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_9900
A sequence alteration has been identified in PROP1 (PROP paired-like homeobox 1) on Chromosome 5. Is it disease-inducing or harmless?
Pathogenic; Pituitary hormone deficiency, combined, 2
TCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGGTATTTCTAGGACAGAATAAACAAAAGTCAGTGACTGATTGAGATGGCGGGGTGGGCAATGGGGAAGGGATGTATAGGTAGACTCTTAAGTCAGAAGCCTTACTGAAATCAGCCAGAAAGAGCTGGGATCTTCTTCAATCGTGATCTCAATTAATGAAGGCCCTCACCTCCTAGCCCTTCAATCATCTCCACTCACCAGCAACTGTCTTCATCAATATCACCCTTCAGCAGGCAGCTCCACCGAGGCATCTTGCCCTGTCTCTTCCAGTAGCTCACCTCCCCAGACTTCCTCCACTAATCACCCCAGTGAGAATTCACCATGATCTCCCATTTTTAAATTTCTAATCGCTGAGCTGACCCTCACCATGCATCTGCTTCACCCATAGATGGAAAGGAAGCCACCCCATTTTCTTGTCTTTTCACGAGGGCCGCAGGCTGGGGATCACCTTGGTGGTACTTGTTTGACCTCAGTTCCAGGACTTGGATGGCTCAAGGCTGAGGGGGAGCATGGGAGGGGGTGGGGGGCAGGGCAGATGGCCGGCAGGGGCTGGGTGCAAGGTAGGGTACCAGTCCTCAGACTGGTGTGACAAAGCAAAGGCGCCTCCTGTGGAGGGCTGGGAAGGGAGGGCATGGCTGTAGGGGTGAGGGAAGCAGGTCACTGGTGGTGGTGGTGCTGCGTAAGAATAGGGGCAAGCAGTGGACTCTGGCAAGAAGCTGGAAAAGGCGGCAGGAGACAGATGGGCCAGAGGCTGAAGCAGTGAGCGCTCTTGCTTCCGTTGCTTAGCTCTGCGGTTCTGGAACCAGACCTGAGAAGGGGTAGGAACCACATCAGAGCCCACACTTGACATAGGTGGTGACACCCTACTCCAATGACAAGAGGTGCAGGGACAGGGAGCAGGCTTCTCCAGCATGGCCAGAGGGAGTAAAGCTCTTCCACAAGGCTTGGCTGAGCCTGGTCTGCTGACAAAGGAACCCACAGACTTGTCCCCAGCCTCTGTCCACATGTGCCCTTTTCTAACACTCGGGGCAAGTAAGAAGTGTCAGCTTCCACCAAGGAGATAAATATGGTGACAATGACATTTCCCTTCCCCAGAGAATGGGAAATTTCCCCTAGGGTTAAGTTTAACGATTAAGACTGTAGATAAATGTAATTGCTATAGACAAGCTTGAATTTAGGGTAGGGTTTACACTTAAGGCTAACCAACCCTGGGGTTAGGATTGAGGGAGCATTTGGCTCATTGAGTTTCAAGGCTATGGTTAGGGACAAGCTTCTGTAAGAATATGGACAGTTAGGATTGAACTTCTGTTGGAATTGGCATCACTATTTTTTTTTTTTTGAGACAAAGTTTTGTTCTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTAATTATAGGCACCTGCCACTATGCCTGGCTAATTTTTTGTATTTTTAGCAGAGATGGGGTTTCACCATGTTAACCAGGCTGGTCTCGAACTCTTAACCTCAGGTGATCCATCCAGCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTATTGTGCCCAGCCGGAATTGGCATCACTATTAAATATTGAGGGTAGGTGTTGAAATTCAAGTTAGATTAGCTTATAGCTAGGGTTAAACTCAAGTGATATGATATTCTCAATGCAGTTGCTCTGATGCTGGTGGTGAGATGAGGCCTGTGTCTGGTGACCATTTAGGTTAGGGTTATAATGCCCAACATTCTATGATAGCACCAAAGAAATCTGCATTTCTTTCCTGAGAGAGGAGGATCCTGGAGCATCACCTGGATTCGGGCCTCACTGAGGCCAGTGTCCCGGGCAAGACTCTCTCGGGCCCAGATGTCGGGGTACTGGTTCCTCCCAAAGGCTGACTCCAGCTGTTCCAACTGCACTGGGCTGAAGGTGGTGCGGTGGCGGCGCCGGGAGTGCGGGCGGCCCCTCTGTCCTCCTTGCGGGGAGAACCTTGATCTCCCCCCTCCTGCACCAGGGAGCCTTCTGCAGGGTGGAGCACTCGAGTCTGAGAACGGAGAGAAGGGAGGGGCGGCTTCTGAGGAGGACGCTCCTCGGTGCTGGACCACATGTGCCTGTCCCGGGATTGCGCTCAGTGCGTCCTGTGCTGCTCCAGTCTTTTTTTGAGACAGAGTCTTGCTCTGTCTCCCAGACTGGAGTGCAGTGGTGTGATCACAGCTCACTGCAGCCTCGAACCCCTGGGCTCCAGTGATCCTACTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGTGCACACCAACATACCCAGCTAATTAAAAAAATAAAAAATTAGAGATGGGGTCTTGCTATCTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAGTCCTCCCATGTCAGCCTCTCAAAGTGCTGGGATTATAGGCCTGAGCCACCGCACCCAGCCCTGCCCCACCGGGAATCTTTTAGCTGCCATAGCCTGGTTCCTGCACCCTGCTCAGCCTCGGCCCCTGGTTGCCTCTGAGTCTCTGACACCAGGCTGTGCTGTCTACACAGGGCACACCCTCAGACTCATTCCTGGCCCTGGCACTCATGCACTGTCTACCTGGCAACTCTACTGTCTGCCCACTTCCTATTGCACTGCCAGACACATACCCCTCCATGTACGTTCACCCTTCTGGACACACACGACCACCTGGGGCTCACCCTGTGGGTCTGCTGTGTGCACCTGCACCCTAACAATCGTCCCAGCTGTCTACGGAAGACCCTAGTGCTTGTCCCCTGCTGGCGAGGCTCCTGTTCAACCTGTGCCTTCTTCAGACTGCTGCCATCTCCCGCACCCCTCACCTGGGAAGATGGGCACCCCCCTCTTCCGCTCAGACACACCCTCCCCTACTTACTTTTCATCTCCTCCCTACCCCTGCCCTGGCCCAGCCACCAGGCTGCAGGAACTTGAGCTCGTGGGAAAGGCTTGCCTTCCTCCCCACAGGCTCCCTAAGCCCCCACACTAATTAGTCTGAGAGCTGTTGGGGAGGAGAGAACGGGGAGGGAAAGGACACACCTGGAAGGCGCACACCAAGAAAAGATGTCTGGAGCCGAGGCACCATCCCCATGGGGCCCAAGGGCGTGGACCCTCCTAGAGCTCACTGTCCACCATGGGGGACACACACACGGAGCCCGCCCTCCCGCCCTGGACCCAAAGCCCTGGCCCCTCCAGCTCCCTTCATCAGAGAAGGCAGTGGCTTGGGCTAACCAACTCTGAGGTCAGGAGTGAGGGGACAGAGGTAACTGTCTCACATCCCCACTGCAATGTGAGCTGTTCAGCCGCCCCCTCCTGCCAAGGGCTCAGTTCCCCAGTCTGTAAAGCCAAGGGGTGCTCCAGTCCCTTTTACTTTCAAAGGTTCCCACAGTTTTAACATGATAGGATTCGGGTTTTAATTTCTCCTCCTAACCTTCTTCATGGAGCCTATGCTTTCAGCCTCACACCCGCTGCCTCCTCAGGGACCCACGCACACCGGGACGGTCACTCACCCACCGTGGTGGTCGGGGTCCCAGTGGCCGGGTGTCTCTCAGGCAACAGGTTGCTGCCGACTCGCCCCTTCTTTGGCTTCTCAGCCTGGCGCCTCCTTTCTGCTTCCATGGCTCGCCACGGGGACCAAGTGTCCCTGAATCTCTGACTTGAGATTTCTCTGCTTCCGCAGCTCCTCTCCACACCTGTTCCCTCCCCTTCTCCCTCTGTGTATGCCACCCTCTGGGACTCTGTCTCTGAATGTGTGTGTAGGTGCAGGCAGCTGTCTCTGACTTTTTCACTGTCTTTACTTTTTTTCTAATTGTTTCCTAATTCCCCCTTCCTTGGCTTGAGTGTCAGCTCAATCTCCTGCCTCAGCCTCACCTGTTGCTCTGTTTCTGACTACTTTTCTCTGCCTGGCCCTTCTCCCCACCGGGATGCTGCTCCCTTCTGTCAGCTGCCTACTTTCCCATCCC
TCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGGTATTTCTAGGACAGAATAAACAAAAGTCAGTGACTGATTGAGATGGCGGGGTGGGCAATGGGGAAGGGATGTATAGGTAGACTCTTAAGTCAGAAGCCTTACTGAAATCAGCCAGAAAGAGCTGGGATCTTCTTCAATCGTGATCTCAATTAATGAAGGCCCTCACCTCCTAGCCCTTCAATCATCTCCACTCACCAGCAACTGTCTTCATCAATATCACCCTTCAGCAGGCAGCTCCACCGAGGCATCTTGCCCTGTCTCTTCCAGTAGCTCACCTCCCCAGACTTCCTCCACTAATCACCCCAGTGAGAATTCACCATGATCTCCCATTTTTAAATTTCTAATCGCTGAGCTGACCCTCACCATGCATCTGCTTCACCCATAGATGGAAAGGAAGCCACCCCATTTTCTTGTCTTTTCACGAGGGCCGCAGGCTGGGGATCACCTTGGTGGTACTTGTTTGACCTCAGTTCCAGGACTTGGATGGCTCAAGGCTGAGGGGGAGCATGGGAGGGGGTGGGGGGCAGGGCAGATGGCCGGCAGGGGCTGGGTGCAAGGTAGGGTACCAGTCCTCAGACTGGTGTGACAAAGCAAAGGCGCCTCCTGTGGAGGGCTGGGAAGGGAGGGCATGGCTGTAGGGGTGAGGGAAGCAGGTCACTGGTGGTGGTGGTGCTGCGTAAGAATAGGGGCAAGCAGTGGACTCTGGCAAGAAGCTGGAAAAGGCGGCAGGAGACAGATGGGCCAGAGGCTGAAGCAGTGAGCGCTCTTGCTTCCGTTGCTTAGCTCTGCGGTTCTGGAACCAGACCTGAGAAGGGGTAGGAACCACATCAGAGCCCACACTTGACATAGGTGGTGACACCCTACTCCAATGACAAGAGGTGCAGGGACAGGGAGCAGGCTTCTCCAGCATGGCCAGAGGGAGTAAAGCTCTTCCACAAGGCTTGGCTGAGCCTGGTCTGCTGACAAAGGAACCCACAGACTTGTCCCCAGCCTCTGTCCACATGTGCCCTTTTCTAACACTCGGGGCAAGTAAGAAGTGTCAGCTTCCACCAAGGAGATAAATATGGTGACAATGACATTTCCCTTCCCCAGAGAATGGGAAATTTCCCCTAGGGTTAAGTTTAACGATTAAGACTGTAGATAAATGTAATTGCTATAGACAAGCTTGAATTTAGGGTAGGGTTTACACTTAAGGCTAACCAACCCTGGGGTTAGGATTGAGGGAGCATTTGGCTCATTGAGTTTCAAGGCTATGGTTAGGGACAAGCTTCTGTAAGAATATGGACAGTTAGGATTGAACTTCTGTTGGAATTGGCATCACTATTTTTTTTTTTTTGAGACAAAGTTTTGTTCTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTAATTATAGGCACCTGCCACTATGCCTGGCTAATTTTTTGTATTTTTAGCAGAGATGGGGTTTCACCATGTTAACCAGGCTGGTCTCGAACTCTTAACCTCAGGTGATCCATCCAGCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTATTGTGCCCAGCCGGAATTGGCATCACTATTAAATATTGAGGGTAGGTGTTGAAATTCAAGTTAGATTAGCTTATAGCTAGGGTTAAACTCAAGTGATATGATATTCTCAATGCAGTTGCTCTGATGCTGGTGGTGAGATGAGGCCTGTGTCTGGTGACCATTTAGGTTAGGGTTATAATGCCCAACATTCTATGATAGCACCAAAGAAATCTGCATTTCTTTCCTGAGAGAGGAGGATCCTGGAGCATCACCTGGATTCGGGCCTCACTGAGGCCAGTGTCCCGGGCAAGACTCTCTCGGGCCCAGATGTCGGGGTACTGGTTCCTCCCAAAGGCTGACTCCAGCTGTTCCAACTGCACTGGGCTGAAGGTGGTGTGGTGGCGGCGCCGGGAGTGCGGGCGGCCCCTCTGTCCTCCTTGCGGGGAGAACCTTGATCTCCCCCCTCCTGCACCAGGGAGCCTTCTGCAGGGTGGAGCACTCGAGTCTGAGAACGGAGAGAAGGGAGGGGCGGCTTCTGAGGAGGACGCTCCTCGGTGCTGGACCACATGTGCCTGTCCCGGGATTGCGCTCAGTGCGTCCTGTGCTGCTCCAGTCTTTTTTTGAGACAGAGTCTTGCTCTGTCTCCCAGACTGGAGTGCAGTGGTGTGATCACAGCTCACTGCAGCCTCGAACCCCTGGGCTCCAGTGATCCTACTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGTGCACACCAACATACCCAGCTAATTAAAAAAATAAAAAATTAGAGATGGGGTCTTGCTATCTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAGTCCTCCCATGTCAGCCTCTCAAAGTGCTGGGATTATAGGCCTGAGCCACCGCACCCAGCCCTGCCCCACCGGGAATCTTTTAGCTGCCATAGCCTGGTTCCTGCACCCTGCTCAGCCTCGGCCCCTGGTTGCCTCTGAGTCTCTGACACCAGGCTGTGCTGTCTACACAGGGCACACCCTCAGACTCATTCCTGGCCCTGGCACTCATGCACTGTCTACCTGGCAACTCTACTGTCTGCCCACTTCCTATTGCACTGCCAGACACATACCCCTCCATGTACGTTCACCCTTCTGGACACACACGACCACCTGGGGCTCACCCTGTGGGTCTGCTGTGTGCACCTGCACCCTAACAATCGTCCCAGCTGTCTACGGAAGACCCTAGTGCTTGTCCCCTGCTGGCGAGGCTCCTGTTCAACCTGTGCCTTCTTCAGACTGCTGCCATCTCCCGCACCCCTCACCTGGGAAGATGGGCACCCCCCTCTTCCGCTCAGACACACCCTCCCCTACTTACTTTTCATCTCCTCCCTACCCCTGCCCTGGCCCAGCCACCAGGCTGCAGGAACTTGAGCTCGTGGGAAAGGCTTGCCTTCCTCCCCACAGGCTCCCTAAGCCCCCACACTAATTAGTCTGAGAGCTGTTGGGGAGGAGAGAACGGGGAGGGAAAGGACACACCTGGAAGGCGCACACCAAGAAAAGATGTCTGGAGCCGAGGCACCATCCCCATGGGGCCCAAGGGCGTGGACCCTCCTAGAGCTCACTGTCCACCATGGGGGACACACACACGGAGCCCGCCCTCCCGCCCTGGACCCAAAGCCCTGGCCCCTCCAGCTCCCTTCATCAGAGAAGGCAGTGGCTTGGGCTAACCAACTCTGAGGTCAGGAGTGAGGGGACAGAGGTAACTGTCTCACATCCCCACTGCAATGTGAGCTGTTCAGCCGCCCCCTCCTGCCAAGGGCTCAGTTCCCCAGTCTGTAAAGCCAAGGGGTGCTCCAGTCCCTTTTACTTTCAAAGGTTCCCACAGTTTTAACATGATAGGATTCGGGTTTTAATTTCTCCTCCTAACCTTCTTCATGGAGCCTATGCTTTCAGCCTCACACCCGCTGCCTCCTCAGGGACCCACGCACACCGGGACGGTCACTCACCCACCGTGGTGGTCGGGGTCCCAGTGGCCGGGTGTCTCTCAGGCAACAGGTTGCTGCCGACTCGCCCCTTCTTTGGCTTCTCAGCCTGGCGCCTCCTTTCTGCTTCCATGGCTCGCCACGGGGACCAAGTGTCCCTGAATCTCTGACTTGAGATTTCTCTGCTTCCGCAGCTCCTCTCCACACCTGTTCCCTCCCCTTCTCCCTCTGTGTATGCCACCCTCTGGGACTCTGTCTCTGAATGTGTGTGTAGGTGCAGGCAGCTGTCTCTGACTTTTTCACTGTCTTTACTTTTTTTCTAATTGTTTCCTAATTCCCCCTTCCTTGGCTTGAGTGTCAGCTCAATCTCCTGCCTCAGCCTCACCTGTTGCTCTGTTTCTGACTACTTTTCTCTGCCTGGCCCTTCTCCCCACCGGGATGCTGCTCCCTTCTGTCAGCTGCCTACTTTCCCATCCC
Task1_train_9901
The gene PROP1 (PROP paired-like homeobox 1) on Chromosome 5 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Pituitary hormone deficiency, combined, 2
CCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGGTATTTCTAGGACAGAATAAACAAAAGTCAGTGACTGATTGAGATGGCGGGGTGGGCAATGGGGAAGGGATGTATAGGTAGACTCTTAAGTCAGAAGCCTTACTGAAATCAGCCAGAAAGAGCTGGGATCTTCTTCAATCGTGATCTCAATTAATGAAGGCCCTCACCTCCTAGCCCTTCAATCATCTCCACTCACCAGCAACTGTCTTCATCAATATCACCCTTCAGCAGGCAGCTCCACCGAGGCATCTTGCCCTGTCTCTTCCAGTAGCTCACCTCCCCAGACTTCCTCCACTAATCACCCCAGTGAGAATTCACCATGATCTCCCATTTTTAAATTTCTAATCGCTGAGCTGACCCTCACCATGCATCTGCTTCACCCATAGATGGAAAGGAAGCCACCCCATTTTCTTGTCTTTTCACGAGGGCCGCAGGCTGGGGATCACCTTGGTGGTACTTGTTTGACCTCAGTTCCAGGACTTGGATGGCTCAAGGCTGAGGGGGAGCATGGGAGGGGGTGGGGGGCAGGGCAGATGGCCGGCAGGGGCTGGGTGCAAGGTAGGGTACCAGTCCTCAGACTGGTGTGACAAAGCAAAGGCGCCTCCTGTGGAGGGCTGGGAAGGGAGGGCATGGCTGTAGGGGTGAGGGAAGCAGGTCACTGGTGGTGGTGGTGCTGCGTAAGAATAGGGGCAAGCAGTGGACTCTGGCAAGAAGCTGGAAAAGGCGGCAGGAGACAGATGGGCCAGAGGCTGAAGCAGTGAGCGCTCTTGCTTCCGTTGCTTAGCTCTGCGGTTCTGGAACCAGACCTGAGAAGGGGTAGGAACCACATCAGAGCCCACACTTGACATAGGTGGTGACACCCTACTCCAATGACAAGAGGTGCAGGGACAGGGAGCAGGCTTCTCCAGCATGGCCAGAGGGAGTAAAGCTCTTCCACAAGGCTTGGCTGAGCCTGGTCTGCTGACAAAGGAACCCACAGACTTGTCCCCAGCCTCTGTCCACATGTGCCCTTTTCTAACACTCGGGGCAAGTAAGAAGTGTCAGCTTCCACCAAGGAGATAAATATGGTGACAATGACATTTCCCTTCCCCAGAGAATGGGAAATTTCCCCTAGGGTTAAGTTTAACGATTAAGACTGTAGATAAATGTAATTGCTATAGACAAGCTTGAATTTAGGGTAGGGTTTACACTTAAGGCTAACCAACCCTGGGGTTAGGATTGAGGGAGCATTTGGCTCATTGAGTTTCAAGGCTATGGTTAGGGACAAGCTTCTGTAAGAATATGGACAGTTAGGATTGAACTTCTGTTGGAATTGGCATCACTATTTTTTTTTTTTTGAGACAAAGTTTTGTTCTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTAATTATAGGCACCTGCCACTATGCCTGGCTAATTTTTTGTATTTTTAGCAGAGATGGGGTTTCACCATGTTAACCAGGCTGGTCTCGAACTCTTAACCTCAGGTGATCCATCCAGCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTATTGTGCCCAGCCGGAATTGGCATCACTATTAAATATTGAGGGTAGGTGTTGAAATTCAAGTTAGATTAGCTTATAGCTAGGGTTAAACTCAAGTGATATGATATTCTCAATGCAGTTGCTCTGATGCTGGTGGTGAGATGAGGCCTGTGTCTGGTGACCATTTAGGTTAGGGTTATAATGCCCAACATTCTATGATAGCACCAAAGAAATCTGCATTTCTTTCCTGAGAGAGGAGGATCCTGGAGCATCACCTGGATTCGGGCCTCACTGAGGCCAGTGTCCCGGGCAAGACTCTCTCGGGCCCAGATGTCGGGGTACTGGTTCCTCCCAAAGGCTGACTCCAGCTGTTCCAACTGCACTGGGCTGAAGGTGGTGCGGTGGCGGCGCCGGGAGTGCGGGCGGCCCCTCTGTCCTCCTTGCGGGGAGAACCTTGATCTCCCCCCTCCTGCACCAGGGAGCCTTCTGCAGGGTGGAGCACTCGAGTCTGAGAACGGAGAGAAGGGAGGGGCGGCTTCTGAGGAGGACGCTCCTCGGTGCTGGACCACATGTGCCTGTCCCGGGATTGCGCTCAGTGCGTCCTGTGCTGCTCCAGTCTTTTTTTGAGACAGAGTCTTGCTCTGTCTCCCAGACTGGAGTGCAGTGGTGTGATCACAGCTCACTGCAGCCTCGAACCCCTGGGCTCCAGTGATCCTACTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGTGCACACCAACATACCCAGCTAATTAAAAAAATAAAAAATTAGAGATGGGGTCTTGCTATCTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAGTCCTCCCATGTCAGCCTCTCAAAGTGCTGGGATTATAGGCCTGAGCCACCGCACCCAGCCCTGCCCCACCGGGAATCTTTTAGCTGCCATAGCCTGGTTCCTGCACCCTGCTCAGCCTCGGCCCCTGGTTGCCTCTGAGTCTCTGACACCAGGCTGTGCTGTCTACACAGGGCACACCCTCAGACTCATTCCTGGCCCTGGCACTCATGCACTGTCTACCTGGCAACTCTACTGTCTGCCCACTTCCTATTGCACTGCCAGACACATACCCCTCCATGTACGTTCACCCTTCTGGACACACACGACCACCTGGGGCTCACCCTGTGGGTCTGCTGTGTGCACCTGCACCCTAACAATCGTCCCAGCTGTCTACGGAAGACCCTAGTGCTTGTCCCCTGCTGGCGAGGCTCCTGTTCAACCTGTGCCTTCTTCAGACTGCTGCCATCTCCCGCACCCCTCACCTGGGAAGATGGGCACCCCCCTCTTCCGCTCAGACACACCCTCCCCTACTTACTTTTCATCTCCTCCCTACCCCTGCCCTGGCCCAGCCACCAGGCTGCAGGAACTTGAGCTCGTGGGAAAGGCTTGCCTTCCTCCCCACAGGCTCCCTAAGCCCCCACACTAATTAGTCTGAGAGCTGTTGGGGAGGAGAGAACGGGGAGGGAAAGGACACACCTGGAAGGCGCACACCAAGAAAAGATGTCTGGAGCCGAGGCACCATCCCCATGGGGCCCAAGGGCGTGGACCCTCCTAGAGCTCACTGTCCACCATGGGGGACACACACACGGAGCCCGCCCTCCCGCCCTGGACCCAAAGCCCTGGCCCCTCCAGCTCCCTTCATCAGAGAAGGCAGTGGCTTGGGCTAACCAACTCTGAGGTCAGGAGTGAGGGGACAGAGGTAACTGTCTCACATCCCCACTGCAATGTGAGCTGTTCAGCCGCCCCCTCCTGCCAAGGGCTCAGTTCCCCAGTCTGTAAAGCCAAGGGGTGCTCCAGTCCCTTTTACTTTCAAAGGTTCCCACAGTTTTAACATGATAGGATTCGGGTTTTAATTTCTCCTCCTAACCTTCTTCATGGAGCCTATGCTTTCAGCCTCACACCCGCTGCCTCCTCAGGGACCCACGCACACCGGGACGGTCACTCACCCACCGTGGTGGTCGGGGTCCCAGTGGCCGGGTGTCTCTCAGGCAACAGGTTGCTGCCGACTCGCCCCTTCTTTGGCTTCTCAGCCTGGCGCCTCCTTTCTGCTTCCATGGCTCGCCACGGGGACCAAGTGTCCCTGAATCTCTGACTTGAGATTTCTCTGCTTCCGCAGCTCCTCTCCACACCTGTTCCCTCCCCTTCTCCCTCTGTGTATGCCACCCTCTGGGACTCTGTCTCTGAATGTGTGTGTAGGTGCAGGCAGCTGTCTCTGACTTTTTCACTGTCTTTACTTTTTTTCTAATTGTTTCCTAATTCCCCCTTCCTTGGCTTGAGTGTCAGCTCAATCTCCTGCCTCAGCCTCACCTGTTGCTCTGTTTCTGACTACTTTTCTCTGCCTGGCCCTTCTCCCCACCGGGATGCTGCTCCCTTCTGTCAGCTGCCTACTTTCCCATCCCA
CCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGGTATTTCTAGGACAGAATAAACAAAAGTCAGTGACTGATTGAGATGGCGGGGTGGGCAATGGGGAAGGGATGTATAGGTAGACTCTTAAGTCAGAAGCCTTACTGAAATCAGCCAGAAAGAGCTGGGATCTTCTTCAATCGTGATCTCAATTAATGAAGGCCCTCACCTCCTAGCCCTTCAATCATCTCCACTCACCAGCAACTGTCTTCATCAATATCACCCTTCAGCAGGCAGCTCCACCGAGGCATCTTGCCCTGTCTCTTCCAGTAGCTCACCTCCCCAGACTTCCTCCACTAATCACCCCAGTGAGAATTCACCATGATCTCCCATTTTTAAATTTCTAATCGCTGAGCTGACCCTCACCATGCATCTGCTTCACCCATAGATGGAAAGGAAGCCACCCCATTTTCTTGTCTTTTCACGAGGGCCGCAGGCTGGGGATCACCTTGGTGGTACTTGTTTGACCTCAGTTCCAGGACTTGGATGGCTCAAGGCTGAGGGGGAGCATGGGAGGGGGTGGGGGGCAGGGCAGATGGCCGGCAGGGGCTGGGTGCAAGGTAGGGTACCAGTCCTCAGACTGGTGTGACAAAGCAAAGGCGCCTCCTGTGGAGGGCTGGGAAGGGAGGGCATGGCTGTAGGGGTGAGGGAAGCAGGTCACTGGTGGTGGTGGTGCTGCGTAAGAATAGGGGCAAGCAGTGGACTCTGGCAAGAAGCTGGAAAAGGCGGCAGGAGACAGATGGGCCAGAGGCTGAAGCAGTGAGCGCTCTTGCTTCCGTTGCTTAGCTCTGCGGTTCTGGAACCAGACCTGAGAAGGGGTAGGAACCACATCAGAGCCCACACTTGACATAGGTGGTGACACCCTACTCCAATGACAAGAGGTGCAGGGACAGGGAGCAGGCTTCTCCAGCATGGCCAGAGGGAGTAAAGCTCTTCCACAAGGCTTGGCTGAGCCTGGTCTGCTGACAAAGGAACCCACAGACTTGTCCCCAGCCTCTGTCCACATGTGCCCTTTTCTAACACTCGGGGCAAGTAAGAAGTGTCAGCTTCCACCAAGGAGATAAATATGGTGACAATGACATTTCCCTTCCCCAGAGAATGGGAAATTTCCCCTAGGGTTAAGTTTAACGATTAAGACTGTAGATAAATGTAATTGCTATAGACAAGCTTGAATTTAGGGTAGGGTTTACACTTAAGGCTAACCAACCCTGGGGTTAGGATTGAGGGAGCATTTGGCTCATTGAGTTTCAAGGCTATGGTTAGGGACAAGCTTCTGTAAGAATATGGACAGTTAGGATTGAACTTCTGTTGGAATTGGCATCACTATTTTTTTTTTTTTGAGACAAAGTTTTGTTCTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTAATTATAGGCACCTGCCACTATGCCTGGCTAATTTTTTGTATTTTTAGCAGAGATGGGGTTTCACCATGTTAACCAGGCTGGTCTCGAACTCTTAACCTCAGGTGATCCATCCAGCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTATTGTGCCCAGCCGGAATTGGCATCACTATTAAATATTGAGGGTAGGTGTTGAAATTCAAGTTAGATTAGCTTATAGCTAGGGTTAAACTCAAGTGATATGATATTCTCAATGCAGTTGCTCTGATGCTGGTGGTGAGATGAGGCCTGTGTCTGGTGACCATTTAGGTTAGGGTTATAATGCCCAACATTCTATGATAGCACCAAAGAAATCTGCATTTCTTTCCTGAGAGAGGAGGATCCTGGAGCATCACCTGGATTCGGGCCTCACTGAGGCCAGTGTCCCGGGCAAGACTCTCTCGGGCCCAGATGTCGGGGTACTGGTTCCTCCCAAAGGCTGACTCCAGCTGTTCCAACTGCACTGGGCTGAAGGTGGTGCAGTGGCGGCGCCGGGAGTGCGGGCGGCCCCTCTGTCCTCCTTGCGGGGAGAACCTTGATCTCCCCCCTCCTGCACCAGGGAGCCTTCTGCAGGGTGGAGCACTCGAGTCTGAGAACGGAGAGAAGGGAGGGGCGGCTTCTGAGGAGGACGCTCCTCGGTGCTGGACCACATGTGCCTGTCCCGGGATTGCGCTCAGTGCGTCCTGTGCTGCTCCAGTCTTTTTTTGAGACAGAGTCTTGCTCTGTCTCCCAGACTGGAGTGCAGTGGTGTGATCACAGCTCACTGCAGCCTCGAACCCCTGGGCTCCAGTGATCCTACTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGTGCACACCAACATACCCAGCTAATTAAAAAAATAAAAAATTAGAGATGGGGTCTTGCTATCTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAGTCCTCCCATGTCAGCCTCTCAAAGTGCTGGGATTATAGGCCTGAGCCACCGCACCCAGCCCTGCCCCACCGGGAATCTTTTAGCTGCCATAGCCTGGTTCCTGCACCCTGCTCAGCCTCGGCCCCTGGTTGCCTCTGAGTCTCTGACACCAGGCTGTGCTGTCTACACAGGGCACACCCTCAGACTCATTCCTGGCCCTGGCACTCATGCACTGTCTACCTGGCAACTCTACTGTCTGCCCACTTCCTATTGCACTGCCAGACACATACCCCTCCATGTACGTTCACCCTTCTGGACACACACGACCACCTGGGGCTCACCCTGTGGGTCTGCTGTGTGCACCTGCACCCTAACAATCGTCCCAGCTGTCTACGGAAGACCCTAGTGCTTGTCCCCTGCTGGCGAGGCTCCTGTTCAACCTGTGCCTTCTTCAGACTGCTGCCATCTCCCGCACCCCTCACCTGGGAAGATGGGCACCCCCCTCTTCCGCTCAGACACACCCTCCCCTACTTACTTTTCATCTCCTCCCTACCCCTGCCCTGGCCCAGCCACCAGGCTGCAGGAACTTGAGCTCGTGGGAAAGGCTTGCCTTCCTCCCCACAGGCTCCCTAAGCCCCCACACTAATTAGTCTGAGAGCTGTTGGGGAGGAGAGAACGGGGAGGGAAAGGACACACCTGGAAGGCGCACACCAAGAAAAGATGTCTGGAGCCGAGGCACCATCCCCATGGGGCCCAAGGGCGTGGACCCTCCTAGAGCTCACTGTCCACCATGGGGGACACACACACGGAGCCCGCCCTCCCGCCCTGGACCCAAAGCCCTGGCCCCTCCAGCTCCCTTCATCAGAGAAGGCAGTGGCTTGGGCTAACCAACTCTGAGGTCAGGAGTGAGGGGACAGAGGTAACTGTCTCACATCCCCACTGCAATGTGAGCTGTTCAGCCGCCCCCTCCTGCCAAGGGCTCAGTTCCCCAGTCTGTAAAGCCAAGGGGTGCTCCAGTCCCTTTTACTTTCAAAGGTTCCCACAGTTTTAACATGATAGGATTCGGGTTTTAATTTCTCCTCCTAACCTTCTTCATGGAGCCTATGCTTTCAGCCTCACACCCGCTGCCTCCTCAGGGACCCACGCACACCGGGACGGTCACTCACCCACCGTGGTGGTCGGGGTCCCAGTGGCCGGGTGTCTCTCAGGCAACAGGTTGCTGCCGACTCGCCCCTTCTTTGGCTTCTCAGCCTGGCGCCTCCTTTCTGCTTCCATGGCTCGCCACGGGGACCAAGTGTCCCTGAATCTCTGACTTGAGATTTCTCTGCTTCCGCAGCTCCTCTCCACACCTGTTCCCTCCCCTTCTCCCTCTGTGTATGCCACCCTCTGGGACTCTGTCTCTGAATGTGTGTGTAGGTGCAGGCAGCTGTCTCTGACTTTTTCACTGTCTTTACTTTTTTTCTAATTGTTTCCTAATTCCCCCTTCCTTGGCTTGAGTGTCAGCTCAATCTCCTGCCTCAGCCTCACCTGTTGCTCTGTTTCTGACTACTTTTCTCTGCCTGGCCCTTCTCCCCACCGGGATGCTGCTCCCTTCTGTCAGCTGCCTACTTTCCCATCCCA
Task1_train_9902
A mutation found in NHP2, RMND5B (NHP2 ribonucleoprotein| required for meiotic nuclear division 5 homolog B) on Chromosome 5 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Dyskeratosis congenita, autosomal recessive 2
TTCGCTGCCCTTCCCAGATTGAGATTGAACTAGGCATGAAGTGCTGGTACCACTCCGTGTTCGCTTGCCCCATCCTCCGCCAGCAGACGTCAGATTCCAACCCTCCCATCAAGCTCATCTGTGGCCATGTTATCTCCCGAGATGCACTCAATAAGCTCATTAATGGAGGAAAGTAAGTTCCCCGTGCTCTACTCCACCTTGGCTTGGCTCTCCTACTGGCCACCCCTGAGACGTTCTCGGTTCTCCTCCCTTTGCAGGCTGAAGTGTCCCTACTGTCCCATGGAGCAGAACCCGGCAGATGGGAAACGCATCATATTCTGATTCCTACCTGGAAGGAATTTTGTTGAAAGGGGTTTTCACCTGTGAGCCTTGGTCTGTCTCGGTAGGGTGGTCAACTTCAGTGGACTGTGGTTGGTTTCAGAGCGCCTGGCTGAGGAGTTCCACTGAGGGGAGCACTGGAGCAGCCCTTTGGCAGAGGCTGAGGAGGGAGATGGACCAGCCCACGCCTGGCACCTGGCTCCATGGCATAAGGAAAGGGAGATGCTGGCCTCTGTGCTCCTGCTGTCTTTTCCTGTTTCTGTTTGCGTTTGACTTAGTAGCAACCGACAGAGTGGCAAGGGATTTGGTCTTCAGCAGTAGACATCCTTCCACCCCTGCCCTCAGCCAAGTCTCTTGCTGCCATGCCAATGCTATGTCCACCCTTGCCCCTCGGCCCAAGAGTGTCCAGCGGTGGCCCACCTCTTCCTCCCACTACAGCCTCAACAGTATGTACCATCTCCCACTGTAAATAGTCCCAGTTAGAACGGAATGCCGTTGTTTTATAACTTTGAACAAATGTATTTACTGCCCTTCTCATTTCTCCTGGCCAACCTTTAGCCTCACTGACAAATTATGACCACATGTCTACCACACACAGGGACTGGGCACGGCCTGGTGGCTGCCGCAAACAAAAACATGGCCAGCAGGTATCCAGTGTCCAGGCAGGAAGAACACAACTTGCATCCCTGACTGCGGGGAGCTTAGATGTCAGACCCCGGGCAAGGTGCTTTTACATATACCCATACCAGATCTTACTAACTCCATAGGAGAAATCCGTGTAATGGGATTCAGGAAAATGAAGTAACTTGCACAACAGGGCTCACAGCTTAGAAAGGAGAGAGCTTGGAGTTTTAACCAGATCTGACCCTCAAGCCCAAGCTATTTCCAGTTTATTCCAGGGTGCCTGAACTTGGCTGTTATGTATACTGAGTCCTGTGCAGGGCCTCTGACAGCAGGAAGGGGCCCCAAGTCTAAAATACTTGAAGGGATTGGGTTACTAGGGCCATTATGTTAAGCAAGAGAGCTCGGGGGAATGCATTTTAGCTTCATATTCCTATTTAAAATGTGCTGTGTGGGTGGGTAAATTGCTTCCATAAGCTTCACAGTGGCATTTAAGGCTCCTGGGTTAAGTTAGGAATGGGGGTGTTCCTGATGTGGGGGCTTTAGGCTTCCATGAAGTGGGTCTGGGCCCCCTGCCTTACCTCACAGCCCCCATCTACCCTGGAAGAGGGAGTTGAAAATGCTGGGATAGCAGCAGGATCAGTTCTCAGCTTGAGCCAAAGCACCCGGCCCTGGGCAGCTGAGCATCAGCACAGAACCCTCTGAGTCCTTTGGGCTCTCTGCTGAGGAAGACTGCTTCACTCTTCCCGCCCACCAACTCGCTGGCCCAACCAGCAGCTGCTGCTTAAGAAAACACCCACAGACTCACCACATTTTAGTCTTAGCATTTACTTTCCCCACCCCACATTCTTGGAACAGCCTTTAGTTCTACAGGAAATGGCACTGATGGACAGAAGACTAGCATTACCTTCATGAAAGGGCTGTTAGAGCTGCCTGGGAAGAAGGCGTGCCTTGGGGAACTGGGAAGATGCCGTCAGTGTGGGTGGGCAGGAGGACAGCCAGTCGTCCTGCTGCCAGCCCAATAGCTTCCAGCGGCAGGTGCCCAGGTGCTACCGGAGCCCCTCATAGGGGTAGGGGCAGGGACTGCACCTCCTCCAGGCACTCATCGTAAGCCTCCTGGTACTCCTCATGGGGCTTGACCATTATCACACAGGTGGGGCGCTTGGAGCCTGCGGCTGCACCCAGGTCCTACAGAGGGGAAAGAAGTGCTGTTTGGAAAAAAGCTGTACAACCTGTATGCCAGGAAGTCACCAACTGATGACCCACCAGCCTAATCTGGCCCACAACCATGTTCTGTTCGGTCCATGTTCTATTTAAAAGCATCTTGAATTGGTTGCCATCATTTAAACTCAATCAGACTTTGAAGGCATGGTCCAGCCACACAGGGCCTACATTCCCACATGGCAACTATGAAAGGGCTCCAGCCCAGCAGGGGCTGTCCCGGTCCCTGCCACCCCCACTTCCTGTGCCTCAGATCTGGCCCCTGTTACGTAAGATAAGGACAGCTACAGGTCCCTCTGAGCCTAAACCCACCTAACCGGACTAACATGGGTGAAGCATCTTAGCTTACAAAGCTCTTTCACATACATCTATCTCTTTATTCTCATAGTCCACAGATAACTGACTATTTGGTTCTTACCATCAGGCCAAACGGTAAGTTCCTTCAGAACAGGGCCTCCTGCTTTATCCCAAGAAGTGATACTGTAGGTACCCAAGATCCACCCCCAGCCTCTATTTTTTTTTTTTGAGACAGGGCCTCACTCTGTCATGCAGTCTGGAGTGTGGTGGTGTATGATCATGGCTCACTGCAGCCTTGAACTCCTGGGTTCAAGTGATCTCCTGCTTTAGCCTCCCAAGTGGCTGGGACTACAGGCATGTGCCACCACACCCAGCTAATTAAAAAAATTTTTTTTGTAGAGATGGAGTCTCACTTTGTTGCGCAGGTTATTCCTGAACTCCTGTCCTCAACTGATCCTCCTGTCTTGGCCTCCCAAAGCACTAGGATTACAGGTGTGAGCCACAGCGCCTGGGCTGGGATTCCCACTTTACAAGATGGGAACTGAAATGCAAGAAGTAACATATCTGTAGTCCCAAAACTAAGAAGATGTGGAGCTGAGAATCCATCCAGGCCTGTCTTAGCTCCAACACTCCTGGCTCTTTCCCACACTCTCCTGCTATGGCAGACTATCCCAGACACCCCAGTGCTGAGCAAGGTCAGGGGGCCACGTGCTCCTTACCGTCTTAGAGGGGATATAGACATAGGGCAAATTTCGGTCCTCACACATGACTGGGAGATGGCAGTATACCTCAATGGGCAGTGTGTCTCCTGCCAAAACCATGATCCTGAAATGAGAGAAAACACTGTCATCTCTGGCTTGCTCCTTCCTTCTTTCAGTTTTAAGTGCTGCCCTGGGCTGGGTCTTAGGGATAGAGACAAAATTGTGTTTGGTGAGCACACTATTTGGGGGTGATCTCTACCTCTTGGCAACATACAGGTGCCACCAAAGTGATGTAGTGCTCGGACAGGTGAAGTACAGGATGGGTGCCAAGGTGTATGAGCTCAGCTCTCTTTGGAGAGTCAAAAAAGGGTTCAACCAGGAGGTGACACTTGAACAGCACGCTGATGGATGACTGTGTGGCAGGCAGCCCACGGAGGGGCTGGGGCGGGGGAGAGCATGTGGTGTGAGAATCAGAACGGCACCAGACACAGCCGAGAGACTGGCAGGGGACACCCCCAAGACCTTGAGTACCAGGCTAAGAAGCATGGGCTCTGTCCCAAGAGTGACAGTGAGGCAATGAAAGCTTGCCAGAGACTCAGCCAGGGTTCCTAGCTGGCCAGGTGTCAAGGCTGGGGGGCAAGGGCCTCAGGAGCCTAAGACACAGAAGGAAAAGTCTGCTCTCCCATGCTGGATAACAGGCGGACACACAAGGACAGAGCCCTCGGCTGAAAGAATGCTTCCGCACTCCTAGTGCTCCTCTGGGCCCTCTGCTGGCTCCCCTTCTGTTAAGCGCCTTTCACTGTGAGTGTTCCTCACAGCCTTGTCCTCGGCTGCCCTCTCCTCTCAGGACCTTCTTCCTGGCTGACCGGAGCCACTGCCATGGGGTCAGGTGCCATCTATGTGCTGAAAACTCCCAGATGTACTATCTCCAGCCTGGC
TTCGCTGCCCTTCCCAGATTGAGATTGAACTAGGCATGAAGTGCTGGTACCACTCCGTGTTCGCTTGCCCCATCCTCCGCCAGCAGACGTCAGATTCCAACCCTCCCATCAAGCTCATCTGTGGCCATGTTATCTCCCGAGATGCACTCAATAAGCTCATTAATGGAGGAAAGTAAGTTCCCCGTGCTCTACTCCACCTTGGCTTGGCTCTCCTACTGGCCACCCCTGAGACGTTCTCGGTTCTCCTCCCTTTGCAGGCTGAAGTGTCCCTACTGTCCCATGGAGCAGAACCCGGCAGATGGGAAACGCATCATATTCTGATTCCTACCTGGAAGGAATTTTGTTGAAAGGGGTTTTCACCTGTGAGCCTTGGTCTGTCTCGGTAGGGTGGTCAACTTCAGTGGACTGTGGTTGGTTTCAGAGCGCCTGGCTGAGGAGTTCCACTGAGGGGAGCACTGGAGCAGCCCTTTGGCAGAGGCTGAGGAGGGAGATGGACCAGCCCACGCCTGGCACCTGGCTCCATGGCATAAGGAAAGGGAGATGCTGGCCTCTGTGCTCCTGCTGTCTTTTCCTGTTTCTGTTTGCGTTTGACTTAGTAGCAACCGACAGAGTGGCAAGGGATTTGGTCTTCAGCAGTAGACATCCTTCCACCCCTGCCCTCAGCCAAGTCTCTTGCTGCCATGCCAATGCTATGTCCACCCTTGCCCCTCGGCCCAAGAGTGTCCAGCGGTGGCCCACCTCTTCCTCCCACTACAGCCTCAACAGTATGTACCATCTCCCACTGTAAATAGTCCCAGTTAGAACGGAATGCCGTTGTTTTATAACTTTGAACAAATGTATTTACTGCCCTTCTCATTTCTCCTGGCCAACCTTTAGCCTCACTGACAAATTATGACCACATGTCTACCACACACAGGGACTGGGCACGGCCTGGTGGCTGCCGCAAACAAAAACATGGCCAGCAGGTATCCAGTGTCCAGGCAGGAAGAACACAACTTGCATCCCTGACTGCGGGGAGCTTAGATGTCAGACCCCGGGCAAGGTGCTTTTACATATACCCATACCAGATCTTACTAACTCCATAGGAGAAATCCGTGTAATGGGATTCAGGAAAATGAAGTAACTTGCACAACAGGGCTCACAGCTTAGAAAGGAGAGAGCTTGGAGTTTTAACCAGATCTGACCCTCAAGCCCAAGCTATTTCCAGTTTATTCCAGGGTGCCTGAACTTGGCTGTTATGTATACTGAGTCCTGTGCAGGGCCTCTGACAGCAGGAAGGGGCCCCAAGTCTAAAATACTTGAAGGGATTGGGTTACTAGGGCCATTATGTTAAGCAAGAGAGCTCGGGGGAATGCATTTTAGCTTCATATTCCTATTTAAAATGTGCTGTGTGGGTGGGTAAATTGCTTCCATAAGCTTCACAGTGGCATTTAAGGCTCCTGGGTTAAGTTAGGAATGGGGGTGTTCCTGATGTGGGGGCTTTAGGCTTCCATGAAGTGGGTCTGGGCCCCCTGCCTTACCTCACAGCCCCCATCTACCCTGGAAGAGGGAGTTGAAAATGCTGGGATAGCAGCAGGATCAGTTCTCAGCTTGAGCCAAAGCACCCGGCCCTGGGCAGCTGAGCATCAGCACAGAACCCTCTGAGTCCTTTGGGCTCTCTGCTGAGGAAGACTGCTTCACTCTTCCCGCCCACCAACTCGCTGGCCCAACCAGCAGCTGCTGCTTAAGAAAACACCCACAGACTCACCACATTTTAGTCTTAGCATTTACTTTCCCCACCCCACATTCTTGGAACAGCCTTTAGTTCTACAGGAAATGGCACTGATGGACAGAAGACTAGCATTACCTTCATGAAAGGGCTGTTAGAGCTGCCTGGGAAGAAGGCGTGCCTTGGGGAACTGGGAAGATGCCGTCAGTGTGGGTGGGCAGGAGGACAGCCAGTCGTCCTGCTGCCAGCCCAATAGCTTCCAGCGGCAGGTGCCCAGGTGCTACCGGAGCCCCTCATAGGGGTAGGGGCAGGGACTGCACCTCCTCCAGGCACTCATCGTGAGCCTCCTGGTACTCCTCATGGGGCTTGACCATTATCACACAGGTGGGGCGCTTGGAGCCTGCGGCTGCACCCAGGTCCTACAGAGGGGAAAGAAGTGCTGTTTGGAAAAAAGCTGTACAACCTGTATGCCAGGAAGTCACCAACTGATGACCCACCAGCCTAATCTGGCCCACAACCATGTTCTGTTCGGTCCATGTTCTATTTAAAAGCATCTTGAATTGGTTGCCATCATTTAAACTCAATCAGACTTTGAAGGCATGGTCCAGCCACACAGGGCCTACATTCCCACATGGCAACTATGAAAGGGCTCCAGCCCAGCAGGGGCTGTCCCGGTCCCTGCCACCCCCACTTCCTGTGCCTCAGATCTGGCCCCTGTTACGTAAGATAAGGACAGCTACAGGTCCCTCTGAGCCTAAACCCACCTAACCGGACTAACATGGGTGAAGCATCTTAGCTTACAAAGCTCTTTCACATACATCTATCTCTTTATTCTCATAGTCCACAGATAACTGACTATTTGGTTCTTACCATCAGGCCAAACGGTAAGTTCCTTCAGAACAGGGCCTCCTGCTTTATCCCAAGAAGTGATACTGTAGGTACCCAAGATCCACCCCCAGCCTCTATTTTTTTTTTTTGAGACAGGGCCTCACTCTGTCATGCAGTCTGGAGTGTGGTGGTGTATGATCATGGCTCACTGCAGCCTTGAACTCCTGGGTTCAAGTGATCTCCTGCTTTAGCCTCCCAAGTGGCTGGGACTACAGGCATGTGCCACCACACCCAGCTAATTAAAAAAATTTTTTTTGTAGAGATGGAGTCTCACTTTGTTGCGCAGGTTATTCCTGAACTCCTGTCCTCAACTGATCCTCCTGTCTTGGCCTCCCAAAGCACTAGGATTACAGGTGTGAGCCACAGCGCCTGGGCTGGGATTCCCACTTTACAAGATGGGAACTGAAATGCAAGAAGTAACATATCTGTAGTCCCAAAACTAAGAAGATGTGGAGCTGAGAATCCATCCAGGCCTGTCTTAGCTCCAACACTCCTGGCTCTTTCCCACACTCTCCTGCTATGGCAGACTATCCCAGACACCCCAGTGCTGAGCAAGGTCAGGGGGCCACGTGCTCCTTACCGTCTTAGAGGGGATATAGACATAGGGCAAATTTCGGTCCTCACACATGACTGGGAGATGGCAGTATACCTCAATGGGCAGTGTGTCTCCTGCCAAAACCATGATCCTGAAATGAGAGAAAACACTGTCATCTCTGGCTTGCTCCTTCCTTCTTTCAGTTTTAAGTGCTGCCCTGGGCTGGGTCTTAGGGATAGAGACAAAATTGTGTTTGGTGAGCACACTATTTGGGGGTGATCTCTACCTCTTGGCAACATACAGGTGCCACCAAAGTGATGTAGTGCTCGGACAGGTGAAGTACAGGATGGGTGCCAAGGTGTATGAGCTCAGCTCTCTTTGGAGAGTCAAAAAAGGGTTCAACCAGGAGGTGACACTTGAACAGCACGCTGATGGATGACTGTGTGGCAGGCAGCCCACGGAGGGGCTGGGGCGGGGGAGAGCATGTGGTGTGAGAATCAGAACGGCACCAGACACAGCCGAGAGACTGGCAGGGGACACCCCCAAGACCTTGAGTACCAGGCTAAGAAGCATGGGCTCTGTCCCAAGAGTGACAGTGAGGCAATGAAAGCTTGCCAGAGACTCAGCCAGGGTTCCTAGCTGGCCAGGTGTCAAGGCTGGGGGGCAAGGGCCTCAGGAGCCTAAGACACAGAAGGAAAAGTCTGCTCTCCCATGCTGGATAACAGGCGGACACACAAGGACAGAGCCCTCGGCTGAAAGAATGCTTCCGCACTCCTAGTGCTCCTCTGGGCCCTCTGCTGGCTCCCCTTCTGTTAAGCGCCTTTCACTGTGAGTGTTCCTCACAGCCTTGTCCTCGGCTGCCCTCTCCTCTCAGGACCTTCTTCCTGGCTGACCGGAGCCACTGCCATGGGGTCAGGTGCCATCTATGTGCTGAAAACTCCCAGATGTACTATCTCCAGCCTGGC
Task1_train_9903
An alteration has been detected in NHP2, RMND5B (NHP2 ribonucleoprotein| required for meiotic nuclear division 5 homolog B) on Chromosome 5. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Dyskeratosis congenita, autosomal recessive 2
AGTGCTGGTACCACTCCGTGTTCGCTTGCCCCATCCTCCGCCAGCAGACGTCAGATTCCAACCCTCCCATCAAGCTCATCTGTGGCCATGTTATCTCCCGAGATGCACTCAATAAGCTCATTAATGGAGGAAAGTAAGTTCCCCGTGCTCTACTCCACCTTGGCTTGGCTCTCCTACTGGCCACCCCTGAGACGTTCTCGGTTCTCCTCCCTTTGCAGGCTGAAGTGTCCCTACTGTCCCATGGAGCAGAACCCGGCAGATGGGAAACGCATCATATTCTGATTCCTACCTGGAAGGAATTTTGTTGAAAGGGGTTTTCACCTGTGAGCCTTGGTCTGTCTCGGTAGGGTGGTCAACTTCAGTGGACTGTGGTTGGTTTCAGAGCGCCTGGCTGAGGAGTTCCACTGAGGGGAGCACTGGAGCAGCCCTTTGGCAGAGGCTGAGGAGGGAGATGGACCAGCCCACGCCTGGCACCTGGCTCCATGGCATAAGGAAAGGGAGATGCTGGCCTCTGTGCTCCTGCTGTCTTTTCCTGTTTCTGTTTGCGTTTGACTTAGTAGCAACCGACAGAGTGGCAAGGGATTTGGTCTTCAGCAGTAGACATCCTTCCACCCCTGCCCTCAGCCAAGTCTCTTGCTGCCATGCCAATGCTATGTCCACCCTTGCCCCTCGGCCCAAGAGTGTCCAGCGGTGGCCCACCTCTTCCTCCCACTACAGCCTCAACAGTATGTACCATCTCCCACTGTAAATAGTCCCAGTTAGAACGGAATGCCGTTGTTTTATAACTTTGAACAAATGTATTTACTGCCCTTCTCATTTCTCCTGGCCAACCTTTAGCCTCACTGACAAATTATGACCACATGTCTACCACACACAGGGACTGGGCACGGCCTGGTGGCTGCCGCAAACAAAAACATGGCCAGCAGGTATCCAGTGTCCAGGCAGGAAGAACACAACTTGCATCCCTGACTGCGGGGAGCTTAGATGTCAGACCCCGGGCAAGGTGCTTTTACATATACCCATACCAGATCTTACTAACTCCATAGGAGAAATCCGTGTAATGGGATTCAGGAAAATGAAGTAACTTGCACAACAGGGCTCACAGCTTAGAAAGGAGAGAGCTTGGAGTTTTAACCAGATCTGACCCTCAAGCCCAAGCTATTTCCAGTTTATTCCAGGGTGCCTGAACTTGGCTGTTATGTATACTGAGTCCTGTGCAGGGCCTCTGACAGCAGGAAGGGGCCCCAAGTCTAAAATACTTGAAGGGATTGGGTTACTAGGGCCATTATGTTAAGCAAGAGAGCTCGGGGGAATGCATTTTAGCTTCATATTCCTATTTAAAATGTGCTGTGTGGGTGGGTAAATTGCTTCCATAAGCTTCACAGTGGCATTTAAGGCTCCTGGGTTAAGTTAGGAATGGGGGTGTTCCTGATGTGGGGGCTTTAGGCTTCCATGAAGTGGGTCTGGGCCCCCTGCCTTACCTCACAGCCCCCATCTACCCTGGAAGAGGGAGTTGAAAATGCTGGGATAGCAGCAGGATCAGTTCTCAGCTTGAGCCAAAGCACCCGGCCCTGGGCAGCTGAGCATCAGCACAGAACCCTCTGAGTCCTTTGGGCTCTCTGCTGAGGAAGACTGCTTCACTCTTCCCGCCCACCAACTCGCTGGCCCAACCAGCAGCTGCTGCTTAAGAAAACACCCACAGACTCACCACATTTTAGTCTTAGCATTTACTTTCCCCACCCCACATTCTTGGAACAGCCTTTAGTTCTACAGGAAATGGCACTGATGGACAGAAGACTAGCATTACCTTCATGAAAGGGCTGTTAGAGCTGCCTGGGAAGAAGGCGTGCCTTGGGGAACTGGGAAGATGCCGTCAGTGTGGGTGGGCAGGAGGACAGCCAGTCGTCCTGCTGCCAGCCCAATAGCTTCCAGCGGCAGGTGCCCAGGTGCTACCGGAGCCCCTCATAGGGGTAGGGGCAGGGACTGCACCTCCTCCAGGCACTCATCGTAAGCCTCCTGGTACTCCTCATGGGGCTTGACCATTATCACACAGGTGGGGCGCTTGGAGCCTGCGGCTGCACCCAGGTCCTACAGAGGGGAAAGAAGTGCTGTTTGGAAAAAAGCTGTACAACCTGTATGCCAGGAAGTCACCAACTGATGACCCACCAGCCTAATCTGGCCCACAACCATGTTCTGTTCGGTCCATGTTCTATTTAAAAGCATCTTGAATTGGTTGCCATCATTTAAACTCAATCAGACTTTGAAGGCATGGTCCAGCCACACAGGGCCTACATTCCCACATGGCAACTATGAAAGGGCTCCAGCCCAGCAGGGGCTGTCCCGGTCCCTGCCACCCCCACTTCCTGTGCCTCAGATCTGGCCCCTGTTACGTAAGATAAGGACAGCTACAGGTCCCTCTGAGCCTAAACCCACCTAACCGGACTAACATGGGTGAAGCATCTTAGCTTACAAAGCTCTTTCACATACATCTATCTCTTTATTCTCATAGTCCACAGATAACTGACTATTTGGTTCTTACCATCAGGCCAAACGGTAAGTTCCTTCAGAACAGGGCCTCCTGCTTTATCCCAAGAAGTGATACTGTAGGTACCCAAGATCCACCCCCAGCCTCTATTTTTTTTTTTTGAGACAGGGCCTCACTCTGTCATGCAGTCTGGAGTGTGGTGGTGTATGATCATGGCTCACTGCAGCCTTGAACTCCTGGGTTCAAGTGATCTCCTGCTTTAGCCTCCCAAGTGGCTGGGACTACAGGCATGTGCCACCACACCCAGCTAATTAAAAAAATTTTTTTTGTAGAGATGGAGTCTCACTTTGTTGCGCAGGTTATTCCTGAACTCCTGTCCTCAACTGATCCTCCTGTCTTGGCCTCCCAAAGCACTAGGATTACAGGTGTGAGCCACAGCGCCTGGGCTGGGATTCCCACTTTACAAGATGGGAACTGAAATGCAAGAAGTAACATATCTGTAGTCCCAAAACTAAGAAGATGTGGAGCTGAGAATCCATCCAGGCCTGTCTTAGCTCCAACACTCCTGGCTCTTTCCCACACTCTCCTGCTATGGCAGACTATCCCAGACACCCCAGTGCTGAGCAAGGTCAGGGGGCCACGTGCTCCTTACCGTCTTAGAGGGGATATAGACATAGGGCAAATTTCGGTCCTCACACATGACTGGGAGATGGCAGTATACCTCAATGGGCAGTGTGTCTCCTGCCAAAACCATGATCCTGAAATGAGAGAAAACACTGTCATCTCTGGCTTGCTCCTTCCTTCTTTCAGTTTTAAGTGCTGCCCTGGGCTGGGTCTTAGGGATAGAGACAAAATTGTGTTTGGTGAGCACACTATTTGGGGGTGATCTCTACCTCTTGGCAACATACAGGTGCCACCAAAGTGATGTAGTGCTCGGACAGGTGAAGTACAGGATGGGTGCCAAGGTGTATGAGCTCAGCTCTCTTTGGAGAGTCAAAAAAGGGTTCAACCAGGAGGTGACACTTGAACAGCACGCTGATGGATGACTGTGTGGCAGGCAGCCCACGGAGGGGCTGGGGCGGGGGAGAGCATGTGGTGTGAGAATCAGAACGGCACCAGACACAGCCGAGAGACTGGCAGGGGACACCCCCAAGACCTTGAGTACCAGGCTAAGAAGCATGGGCTCTGTCCCAAGAGTGACAGTGAGGCAATGAAAGCTTGCCAGAGACTCAGCCAGGGTTCCTAGCTGGCCAGGTGTCAAGGCTGGGGGGCAAGGGCCTCAGGAGCCTAAGACACAGAAGGAAAAGTCTGCTCTCCCATGCTGGATAACAGGCGGACACACAAGGACAGAGCCCTCGGCTGAAAGAATGCTTCCGCACTCCTAGTGCTCCTCTGGGCCCTCTGCTGGCTCCCCTTCTGTTAAGCGCCTTTCACTGTGAGTGTTCCTCACAGCCTTGTCCTCGGCTGCCCTCTCCTCTCAGGACCTTCTTCCTGGCTGACCGGAGCCACTGCCATGGGGTCAGGTGCCATCTATGTGCTGAAAACTCCCAGATGTACTATCTCCAGCCTGGCCCTCTCTCTTCCATGCTCCAAACCCCTATAGCCATCTGC
AGTGCTGGTACCACTCCGTGTTCGCTTGCCCCATCCTCCGCCAGCAGACGTCAGATTCCAACCCTCCCATCAAGCTCATCTGTGGCCATGTTATCTCCCGAGATGCACTCAATAAGCTCATTAATGGAGGAAAGTAAGTTCCCCGTGCTCTACTCCACCTTGGCTTGGCTCTCCTACTGGCCACCCCTGAGACGTTCTCGGTTCTCCTCCCTTTGCAGGCTGAAGTGTCCCTACTGTCCCATGGAGCAGAACCCGGCAGATGGGAAACGCATCATATTCTGATTCCTACCTGGAAGGAATTTTGTTGAAAGGGGTTTTCACCTGTGAGCCTTGGTCTGTCTCGGTAGGGTGGTCAACTTCAGTGGACTGTGGTTGGTTTCAGAGCGCCTGGCTGAGGAGTTCCACTGAGGGGAGCACTGGAGCAGCCCTTTGGCAGAGGCTGAGGAGGGAGATGGACCAGCCCACGCCTGGCACCTGGCTCCATGGCATAAGGAAAGGGAGATGCTGGCCTCTGTGCTCCTGCTGTCTTTTCCTGTTTCTGTTTGCGTTTGACTTAGTAGCAACCGACAGAGTGGCAAGGGATTTGGTCTTCAGCAGTAGACATCCTTCCACCCCTGCCCTCAGCCAAGTCTCTTGCTGCCATGCCAATGCTATGTCCACCCTTGCCCCTCGGCCCAAGAGTGTCCAGCGGTGGCCCACCTCTTCCTCCCACTACAGCCTCAACAGTATGTACCATCTCCCACTGTAAATAGTCCCAGTTAGAACGGAATGCCGTTGTTTTATAACTTTGAACAAATGTATTTACTGCCCTTCTCATTTCTCCTGGCCAACCTTTAGCCTCACTGACAAATTATGACCACATGTCTACCACACACAGGGACTGGGCACGGCCTGGTGGCTGCCGCAAACAAAAACATGGCCAGCAGGTATCCAGTGTCCAGGCAGGAAGAACACAACTTGCATCCCTGACTGCGGGGAGCTTAGATGTCAGACCCCGGGCAAGGTGCTTTTACATATACCCATACCAGATCTTACTAACTCCATAGGAGAAATCCGTGTAATGGGATTCAGGAAAATGAAGTAACTTGCACAACAGGGCTCACAGCTTAGAAAGGAGAGAGCTTGGAGTTTTAACCAGATCTGACCCTCAAGCCCAAGCTATTTCCAGTTTATTCCAGGGTGCCTGAACTTGGCTGTTATGTATACTGAGTCCTGTGCAGGGCCTCTGACAGCAGGAAGGGGCCCCAAGTCTAAAATACTTGAAGGGATTGGGTTACTAGGGCCATTATGTTAAGCAAGAGAGCTCGGGGGAATGCATTTTAGCTTCATATTCCTATTTAAAATGTGCTGTGTGGGTGGGTAAATTGCTTCCATAAGCTTCACAGTGGCATTTAAGGCTCCTGGGTTAAGTTAGGAATGGGGGTGTTCCTGATGTGGGGGCTTTAGGCTTCCATGAAGTGGGTCTGGGCCCCCTGCCTTACCTCACAGCCCCCATCTACCCTGGAAGAGGGAGTTGAAAATGCTGGGATAGCAGCAGGATCAGTTCTCAGCTTGAGCCAAAGCACCCGGCCCTGGGCAGCTGAGCATCAGCACAGAACCCTCTGAGTCCTTTGGGCTCTCTGCTGAGGAAGACTGCTTCACTCTTCCCGCCCACCAACTCGCTGGCCCAACCAGCAGCTGCTGCTTAAGAAAACACCCACAGACTCACCACATTTTAGTCTTAGCATTTACTTTCCCCACCCCACATTCTTGGAACAGCCTTTAGTTCTACAGGAAATGGCACTGATGGACAGAAGACTAGCATTACCTTCATGAAAGGGCTGTTAGAGCTGCCTGGGAAGAAGGCGTGCCTTGGGGAACTGGGAAGATGCCGTCAGTGTGGGTGGGCAGGAGGACAGCCAGTCGTCCTGCTGCCAGCCCAATAGCTTCCAGCGGCAGGTGCCCAGGTGCTACCGGAGCCCCTCATAGGGGTAGGGGCAGGGACTGCACCTCCTCCAGGCACTCATCGTAAGCCTCCTGGTACTCCTCATGGGGCTTGACCATTATCATACAGGTGGGGCGCTTGGAGCCTGCGGCTGCACCCAGGTCCTACAGAGGGGAAAGAAGTGCTGTTTGGAAAAAAGCTGTACAACCTGTATGCCAGGAAGTCACCAACTGATGACCCACCAGCCTAATCTGGCCCACAACCATGTTCTGTTCGGTCCATGTTCTATTTAAAAGCATCTTGAATTGGTTGCCATCATTTAAACTCAATCAGACTTTGAAGGCATGGTCCAGCCACACAGGGCCTACATTCCCACATGGCAACTATGAAAGGGCTCCAGCCCAGCAGGGGCTGTCCCGGTCCCTGCCACCCCCACTTCCTGTGCCTCAGATCTGGCCCCTGTTACGTAAGATAAGGACAGCTACAGGTCCCTCTGAGCCTAAACCCACCTAACCGGACTAACATGGGTGAAGCATCTTAGCTTACAAAGCTCTTTCACATACATCTATCTCTTTATTCTCATAGTCCACAGATAACTGACTATTTGGTTCTTACCATCAGGCCAAACGGTAAGTTCCTTCAGAACAGGGCCTCCTGCTTTATCCCAAGAAGTGATACTGTAGGTACCCAAGATCCACCCCCAGCCTCTATTTTTTTTTTTTGAGACAGGGCCTCACTCTGTCATGCAGTCTGGAGTGTGGTGGTGTATGATCATGGCTCACTGCAGCCTTGAACTCCTGGGTTCAAGTGATCTCCTGCTTTAGCCTCCCAAGTGGCTGGGACTACAGGCATGTGCCACCACACCCAGCTAATTAAAAAAATTTTTTTTGTAGAGATGGAGTCTCACTTTGTTGCGCAGGTTATTCCTGAACTCCTGTCCTCAACTGATCCTCCTGTCTTGGCCTCCCAAAGCACTAGGATTACAGGTGTGAGCCACAGCGCCTGGGCTGGGATTCCCACTTTACAAGATGGGAACTGAAATGCAAGAAGTAACATATCTGTAGTCCCAAAACTAAGAAGATGTGGAGCTGAGAATCCATCCAGGCCTGTCTTAGCTCCAACACTCCTGGCTCTTTCCCACACTCTCCTGCTATGGCAGACTATCCCAGACACCCCAGTGCTGAGCAAGGTCAGGGGGCCACGTGCTCCTTACCGTCTTAGAGGGGATATAGACATAGGGCAAATTTCGGTCCTCACACATGACTGGGAGATGGCAGTATACCTCAATGGGCAGTGTGTCTCCTGCCAAAACCATGATCCTGAAATGAGAGAAAACACTGTCATCTCTGGCTTGCTCCTTCCTTCTTTCAGTTTTAAGTGCTGCCCTGGGCTGGGTCTTAGGGATAGAGACAAAATTGTGTTTGGTGAGCACACTATTTGGGGGTGATCTCTACCTCTTGGCAACATACAGGTGCCACCAAAGTGATGTAGTGCTCGGACAGGTGAAGTACAGGATGGGTGCCAAGGTGTATGAGCTCAGCTCTCTTTGGAGAGTCAAAAAAGGGTTCAACCAGGAGGTGACACTTGAACAGCACGCTGATGGATGACTGTGTGGCAGGCAGCCCACGGAGGGGCTGGGGCGGGGGAGAGCATGTGGTGTGAGAATCAGAACGGCACCAGACACAGCCGAGAGACTGGCAGGGGACACCCCCAAGACCTTGAGTACCAGGCTAAGAAGCATGGGCTCTGTCCCAAGAGTGACAGTGAGGCAATGAAAGCTTGCCAGAGACTCAGCCAGGGTTCCTAGCTGGCCAGGTGTCAAGGCTGGGGGGCAAGGGCCTCAGGAGCCTAAGACACAGAAGGAAAAGTCTGCTCTCCCATGCTGGATAACAGGCGGACACACAAGGACAGAGCCCTCGGCTGAAAGAATGCTTCCGCACTCCTAGTGCTCCTCTGGGCCCTCTGCTGGCTCCCCTTCTGTTAAGCGCCTTTCACTGTGAGTGTTCCTCACAGCCTTGTCCTCGGCTGCCCTCTCCTCTCAGGACCTTCTTCCTGGCTGACCGGAGCCACTGCCATGGGGTCAGGTGCCATCTATGTGCTGAAAACTCCCAGATGTACTATCTCCAGCCTGGCCCTCTCTCTTCCATGCTCCAAACCCCTATAGCCATCTGC
Task1_train_9904
The variant affects gene PHYKPL (5-phosphohydroxy-L-lysine phospho-lyase), which is on Chromosome 5. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Phosphohydroxylysinuria
CCCAAGTAAAGTTAGCATCCTGGTCTCTGATCCTCTGCTTGGGTCTCTCAGATGCAGGGTTGGGCCCAGGGCCCTTATACACCAGAACAGCAGCCCCTTGGCTTCTGCCTGAGTTGCCACAGTAACCCTGCCACCCCAAAGGGCAGGATTTCCTCCATCCTAGCTCCTGCGTATGCTAAATGGTCCACGGGCCCCTGTGCCCTGCTCCCCCCACAGGTCAGAGTCAGAGTTGGAATCAGGGCTACGGCAACTACTGGAACCAGGGCTACGGCTACCAGCAGGGCTACGGGCCTGGCTATGGCGGCTACGACTACTCGCCCTATGGCTATTACGGCTACGGCCCCGGCTACGACTACAGTAAGTAGGAGAGAGGGAGGCCCCATCCGCTCACCCCTCGTCCCCAGGGGAGGCAGGACAGTGTAGGAGCCACTGGCAGCAGGGGCTTTGGAGTCAGACAGGCCTGGCTCAGCCATGGGAGCTACTTGATTTTGAGCCTTAGACTTCGGGGTCTTAATAACATGAGGAAGGCAGTCTCTGCTGTCACGGCTGGTGAGGGTCCTGGGAAGATGCATATCAAGCGCGTGGCACAGGGCAAATGCTTGTAAATAGTAGCTGCTATGGTTGTTCTCGTCCCTAGGTCAGGGTAGTACAAACTACGGCAAGAGCCAGCGACGTGGTGGCCATCAGAATAACTACAAGCCATACTGAGGCGGCAGCAGGAGCGACCAACTGATCGCACACATGCTTTGTTTGGATATGGAGTGAACACAATTATGTACCAAATTTAACTTGGCAAACTTTCTATTGCCTGTCCCATGTGCATCTTATTTAAAATTTCCCCCATGGAAATCACTCTCCTGTTGACTATTTCCAGAGCTCTAGGTGTTTAGGCAGCGTGTGGTGTCTGAGAGGCCATAGCGCCATCATGGGCTGATTTTTATTACCAGGTCCCCCAGAAGCAGGTGGGAGGCTCTGCTTCCTGCTGCCGCTCTGCAGCCTGGACCTGTGGACCCTGGTTGTAAAGAGTAAATTGTATCTTAGGAAACCAGTGTCACCTTTTTTTCACCTTTTAATTTTATATTATTTGCGTCATACATTTCCTGTAACGGAAGTGTTAATTTTACTGTACTTTTTGGTACCTTTTGGGAATCTAATGTATTGTAAGGTATTTTACACGTGTCCTGATTTTGCCACAACCTGGATATTGAAGCTATCCAAGCTTTTGAAATAAAATTTAAAAACCCCCAAGCCTGGGTGAGTGTGGGATATGCTGTGTGAGACCTCTTGCTCAGGGTCGAGGGAGGCGGGGGGGGGGTGCCAGGTGCCCTGGACTTGGGGCTTTCTCCTGCAGCAGGCTCTTCCAGCTGCAGGCCCAGTTGTGGGGGTATCCTTTAAGGACTGCCCTGCCTAGGGCTGAGCCCCCCTTCAAAGAAAGGAATGAGAGGCCTATGGGGAGTGAGGATGGGGCAGTGATGAGGGCTTACATCCCCAGCAGGCATGTCCCCTCCTGGGACACCTTGGAACACCAACCTTCTTGGCTGATGAATGAAAAAATGGGATTCTTTACACACTAGGGCAGTGCCAGGGCCGTCTGAATTGGGGCACAATAGTGCTCCTCCTGGCTGGTGAAGAAAAGCCTGCTCTGGCAGGGGATGTTTATTGGCTGGATTGGAGCCCAACTCCAGGTCTGGTATTTAGGGCATAAGACTAGGTGGTTACAAGAGGCAAGGGTGGGTTGGGGTTCCACGTGGATACAGCCCCATAGGTTTCAAGGGAGGATATAGCTGTTCCTGCCATCAAGTGCAAGCTAAGCATTGGAGAATTTCCAGTGTTGAAGAAACTAACCTTTGGGAAGGAGCATCAGTCAGAACAAAAAAAAGTCTTAAAAAAAGGCTCAGCTTGCCGAGGCTGCTTGCTGCTGATGGTAAGGAACCCGCTGTGCATCTTCAAGAGTAAGAAGCAAGGCCCACTCACCTGGAGTACACTTAGGCAGAGCAGGGCTGGCTTAGGGCTGGAGCCTCAGCGTTTCACAACTTCTCACCTTCTCTTCCATGTCTGAAAAAGACCACAAAGCAATGCCGACTCAGTCACCTTTCTCTGCTGAAGATGCCCTGTTGACTTCAGTGTCCAAACTGGAGGACAGTTTAGAGATTGGGCCCTCTGGCTATCCACACCCATGTCCCATTCCCCAAAGGGGTGGCAGCAGTTTCCTGAAAAACAAAGCCAGCCCTCAGTTCTCCTGAGATTTGTAGGCTCTGTCCAGGATCCCTAAGCCTGTTCTGTGGCCAGCCTTTGCTCTCCACAAACACACTCCTATTCATCATATCCCTACCACTTCCAATTTGTGTCTAGCAGGGATGGGCCTCCCCCAGCTCCAGAGCCCTGGGATTAAGCATACCTGTGGGTAGCAGTGATCACCCAGAGGTAGGAGGGCACAGGTTGCTTGGCTGGCAGTTGTGATCTCTACTGTGAGATGCAACTGTGCCTATTTAGGGTCTCACTGAGCTGTAAATGGCAACACAGCCATGAGATTTCCTTGTAAGTGGATTTAGGGGGAACCCTGGGTTGACCACGACCATCCTAGGTGATGGGGAATGTGGGGTAGAGTTTTCATTTTGAGTTCCGTCAGTCCTCAGTGGTACCAATCTTTCAGCCACCCAGCAGCCTTGTGTGACCTGTCTCATGTACAGAATGAAACTCCTGCCATCTCTACATCCTAGGCTGGCGGTAATGGGGTCTCAACTCCCACTGTAGTTCTTATGGCCTGTTTCTCAGGCCCAGTACTGCTTTGTCCTGCATACATCTGATGCCTGCTCAGGCAGGCTGGGTGGTGGCTCACCTTCCACCTCCTGACAGCCCAGGAAGCTCTCTTAGGTACAGGCAGGAATAGGAGCAGATTGGGCCATGAAAGACCCTCTCTTGCTCCCTGCCCTGTCCAGAGGACATGTGCCTCTGCTCTTGGACTCTTGTCCCCTCCCTGTTCCATGCTAGGAGGCTCTAGTTGCTGGCTTCAGGCTGAGTTCTAGAGATATGGCCAAGCTCAGGCTTCAAGCTCACCAGTCAGAATGGCATCCAGCTTTGCCACCACCTGCCGTGCATTGTCCAGGCTGAAGCACATTGGGGGCTTAAACTTCAGGATGTTCCTCCCAGGGCCATCAGTGCTCAGCAAAACGTAGTTCTCCTTCAGCCTGTGAGGACAGGACACCCCTTCACATGGCCTTCAAGGCCTTCCTCAGCCTGGCCTTGGCCTCATGTCCAGTGCTCCAGCCACACTGTCCTCAGAGCCTTCCATGGGCCAGTTCCTGCCAGGTCATTTTACTGGTCACCTCTCCCAGAGTCCTGTGCATCTGGCCCACAGCAGCCTGCTTGGAGTGCACTGCACCTGGCCCTGAGCCTGCTGCCCCACAGAACAGGCACCTTGCCTCACCTAACCCTGGAGCCACAGTCCAAGCCAAGAATGAATGGCCACAGGGAAACGCCAGACTGCAAGAGTCACCTGCATTCTCTGGTTTTCTGTGTGGTTTACGTGATGTATATTGTTTCCTTATATAGAGAATGTCCAACATTGCAGTTGGTGTAATGAGCTCCACGTGCCCCTCACCAGCTTCAGGCATCTTCCTGCCCTGTCTTCCGGGTTATCTTACAATTCCAGTTTAAAATGTCCAATTATTCTTAGGAAGATGGCTTTATCTTAACATCATTTGTAGCTAATAATCACTTTTAGTCCACAGTCTAACCTCATCTCTGAGATGAGGGGTCTGCATGATTGTGTTTATATTCTTTGATCATTGTTCCCCTTCTTTTGTAAACCTTGTTATTTTTATTTCTTGGGGGTGGGGAGTGTGCCTTCTGGTTTCATTTTCCTGTCCCAGTCTTCCTGGCACTGACCATGGCCACGCCAGAAAGAACAGGGCTTGGACTTTGGAGTTAGACGGCCCTGGGGCCAGATCTAGCTCTTGCCACCTAGCAGGGTAACTGCAGGTGACTTACCCATTTCCTCACTGAACTGGAAAAGCACCCCCAGGGTATTGTGAGACACGGGCTGAACTTGGGATCTGTTTCCTTCCATGCCACCTGACCATTCCGAATCCCTGAG
CCCAAGTAAAGTTAGCATCCTGGTCTCTGATCCTCTGCTTGGGTCTCTCAGATGCAGGGTTGGGCCCAGGGCCCTTATACACCAGAACAGCAGCCCCTTGGCTTCTGCCTGAGTTGCCACAGTAACCCTGCCACCCCAAAGGGCAGGATTTCCTCCATCCTAGCTCCTGCGTATGCTAAATGGTCCACGGGCCCCTGTGCCCTGCTCCCCCCACAGGTCAGAGTCAGAGTTGGAATCAGGGCTACGGCAACTACTGGAACCAGGGCTACGGCTACCAGCAGGGCTACGGGCCTGGCTATGGCGGCTACGACTACTCGCCCTATGGCTATTACGGCTACGGCCCCGGCTACGACTACAGTAAGTAGGAGAGAGGGAGGCCCCATCCGCTCACCCCTCGTCCCCAGGGGAGGCAGGACAGTGTAGGAGCCACTGGCAGCAGGGGCTTTGGAGTCAGACAGGCCTGGCTCAGCCATGGGAGCTACTTGATTTTGAGCCTTAGACTTCGGGGTCTTAATAACATGAGGAAGGCAGTCTCTGCTGTCACGGCTGGTGAGGGTCCTGGGAAGATGCATATCAAGCGCGTGGCACAGGGCAAATGCTTGTAAATAGTAGCTGCTATGGTTGTTCTCGTCCCTAGGTCAGGGTAGTACAAACTACGGCAAGAGCCAGCGACGTGGTGGCCATCAGAATAACTACAAGCCATACTGAGGCGGCAGCAGGAGCGACCAACTGATCGCACACATGCTTTGTTTGGATATGGAGTGAACACAATTATGTACCAAATTTAACTTGGCAAACTTTCTATTGCCTGTCCCATGTGCATCTTATTTAAAATTTCCCCCATGGAAATCACTCTCCTGTTGACTATTTCCAGAGCTCTAGGTGTTTAGGCAGCGTGTGGTGTCTGAGAGGCCATAGCGCCATCATGGGCTGATTTTTATTACCAGGTCCCCCAGAAGCAGGTGGGAGGCTCTGCTTCCTGCTGCCGCTCTGCAGCCTGGACCTGTGGACCCTGGTTGTAAAGAGTAAATTGTATCTTAGGAAACCAGTGTCACCTTTTTTTCACCTTTTAATTTTATATTATTTGCGTCATACATTTCCTGTAACGGAAGTGTTAATTTTACTGTACTTTTTGGTACCTTTTGGGAATCTAATGTATTGTAAGGTATTTTACACGTGTCCTGATTTTGCCACAACCTGGATATTGAAGCTATCCAAGCTTTTGAAATAAAATTTAAAAACCCCCAAGCCTGGGTGAGTGTGGGATATGCTGTGTGAGACCTCTTGCTCAGGGTCGAGGGAGGCGGGGGGGGGGTGCCAGGTGCCCTGGACTTGGGGCTTTCTCCTGCAGCAGGCTCTTCCAGCTGCAGGCCCAGTTGTGGGGGTATCCTTTAAGGACTGCCCTGCCTAGGGCTGAGCCCCCCTTCAAAGAAAGGAATGAGAGGCCTATGGGGAGTGAGGATGGGGCAGTGATGAGGGCTTACATCCCCAGCAGGCATGTCCCCTCCTGGGACACCTTGGAACACCAACCTTCTTGGCTGATGAATGAAAAAATGGGATTCTTTACACACTAGGGCAGTGCCAGGGCCGTCTGAATTGGGGCACAATAGTGCTCCTCCTGGCTGGTGAAGAAAAGCCTGCTCTGGCAGGGGATGTTTATTGGCTGGATTGGAGCCCAACTCCAGGTCTGGTATTTAGGGCATAAGACTAGGTGGTTACAAGAGGCAAGGGTGGGTTGGGGTTCCACGTGGATACAGCCCCATAGGTTTCAAGGGAGGATATAGCTGTTCCTGCCATCAAGTGCAAGCTAAGCATTGGAGAATTTCCAGTGTTGAAGAAACTAACCTTTGGGAAGGAGCATCAGTCAGAACAAAAAAAAGTCTTAAAAAAAGGCTCAGCTTGCCGAGGCTGCTTGCTGCTGATGGTAAGGAACCCGCTGTGCATCTTCAAGAGTAAGAAGCAAGGCCCACTCACCTGGAGTACACTTAGGCAGAGCAGGGCTGGCTTAGGGCTGGAGCCTCAGCGTTTCACAACTTCTCACCTTCTCTACCATGTCTGAAAAAGACCACAAAGCAATGCCGACTCAGTCACCTTTCTCTGCTGAAGATGCCCTGTTGACTTCAGTGTCCAAACTGGAGGACAGTTTAGAGATTGGGCCCTCTGGCTATCCACACCCATGTCCCATTCCCCAAAGGGGTGGCAGCAGTTTCCTGAAAAACAAAGCCAGCCCTCAGTTCTCCTGAGATTTGTAGGCTCTGTCCAGGATCCCTAAGCCTGTTCTGTGGCCAGCCTTTGCTCTCCACAAACACACTCCTATTCATCATATCCCTACCACTTCCAATTTGTGTCTAGCAGGGATGGGCCTCCCCCAGCTCCAGAGCCCTGGGATTAAGCATACCTGTGGGTAGCAGTGATCACCCAGAGGTAGGAGGGCACAGGTTGCTTGGCTGGCAGTTGTGATCTCTACTGTGAGATGCAACTGTGCCTATTTAGGGTCTCACTGAGCTGTAAATGGCAACACAGCCATGAGATTTCCTTGTAAGTGGATTTAGGGGGAACCCTGGGTTGACCACGACCATCCTAGGTGATGGGGAATGTGGGGTAGAGTTTTCATTTTGAGTTCCGTCAGTCCTCAGTGGTACCAATCTTTCAGCCACCCAGCAGCCTTGTGTGACCTGTCTCATGTACAGAATGAAACTCCTGCCATCTCTACATCCTAGGCTGGCGGTAATGGGGTCTCAACTCCCACTGTAGTTCTTATGGCCTGTTTCTCAGGCCCAGTACTGCTTTGTCCTGCATACATCTGATGCCTGCTCAGGCAGGCTGGGTGGTGGCTCACCTTCCACCTCCTGACAGCCCAGGAAGCTCTCTTAGGTACAGGCAGGAATAGGAGCAGATTGGGCCATGAAAGACCCTCTCTTGCTCCCTGCCCTGTCCAGAGGACATGTGCCTCTGCTCTTGGACTCTTGTCCCCTCCCTGTTCCATGCTAGGAGGCTCTAGTTGCTGGCTTCAGGCTGAGTTCTAGAGATATGGCCAAGCTCAGGCTTCAAGCTCACCAGTCAGAATGGCATCCAGCTTTGCCACCACCTGCCGTGCATTGTCCAGGCTGAAGCACATTGGGGGCTTAAACTTCAGGATGTTCCTCCCAGGGCCATCAGTGCTCAGCAAAACGTAGTTCTCCTTCAGCCTGTGAGGACAGGACACCCCTTCACATGGCCTTCAAGGCCTTCCTCAGCCTGGCCTTGGCCTCATGTCCAGTGCTCCAGCCACACTGTCCTCAGAGCCTTCCATGGGCCAGTTCCTGCCAGGTCATTTTACTGGTCACCTCTCCCAGAGTCCTGTGCATCTGGCCCACAGCAGCCTGCTTGGAGTGCACTGCACCTGGCCCTGAGCCTGCTGCCCCACAGAACAGGCACCTTGCCTCACCTAACCCTGGAGCCACAGTCCAAGCCAAGAATGAATGGCCACAGGGAAACGCCAGACTGCAAGAGTCACCTGCATTCTCTGGTTTTCTGTGTGGTTTACGTGATGTATATTGTTTCCTTATATAGAGAATGTCCAACATTGCAGTTGGTGTAATGAGCTCCACGTGCCCCTCACCAGCTTCAGGCATCTTCCTGCCCTGTCTTCCGGGTTATCTTACAATTCCAGTTTAAAATGTCCAATTATTCTTAGGAAGATGGCTTTATCTTAACATCATTTGTAGCTAATAATCACTTTTAGTCCACAGTCTAACCTCATCTCTGAGATGAGGGGTCTGCATGATTGTGTTTATATTCTTTGATCATTGTTCCCCTTCTTTTGTAAACCTTGTTATTTTTATTTCTTGGGGGTGGGGAGTGTGCCTTCTGGTTTCATTTTCCTGTCCCAGTCTTCCTGGCACTGACCATGGCCACGCCAGAAAGAACAGGGCTTGGACTTTGGAGTTAGACGGCCCTGGGGCCAGATCTAGCTCTTGCCACCTAGCAGGGTAACTGCAGGTGACTTACCCATTTCCTCACTGAACTGGAAAAGCACCCCCAGGGTATTGTGAGACACGGGCTGAACTTGGGATCTGTTTCCTTCCATGCCACCTGACCATTCCGAATCCCTGAG
Task1_train_9905
Here is a genetic alteration in PHYKPL (5-phosphohydroxy-L-lysine phospho-lyase) on Chromosome 5. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Phosphohydroxylysinuria
AGGATATACACTATATACACTACTGGTGGGGTGTTAACTTGTGAACTACTTTAGAAAACAAATGTCATTATCTTTTAAAATGAAGGGTAAACACATACCATATGGGCCAGCAATTCCACCCTCAGGTACAGTCCTAAGAAAAACTCTTGCTACATGTACAACAGAGACTTATGAAAACTATTCAAAGCAGCACTGTTCATAATTGCAAAAAAAAAAAAAAAACAAAAAAAACATGGAACGACCTCAAAGCACAGCAATAGTAATGGATGACTGAACTGTGGTACATTTATACAAAGATTATAAAGCAGTCAAAGCAAATGAACTTCAGTGACAGGCAATAGGGAGGATTCTTAGTGATATGTTAGTAGAAAAAAAAATCCCCAGAGTATATACAGCATGATAGACTTCATATAAACTCAAATAACAACTAAATAATATGGGATTGAGAGTGATGGTTACCATGGTTATTCAGAGTGATGGGTGGAGAAGGCAACAAGAGGGAATTGGGGGGAACATCTGGAGAGATACATGATATTATCAAGGTCTAAGCTTTCATTAGGGATGCTGGCTTCCCAGGTGCTTAGAACATTAATAAAGGTTAACTGAATAACTAGAAGAGGGCTATGCACAGACAGATGTTGAGAGTCTTCCATGAACCAAGGATTCTATCTAATTATGTACACTTGAGGGTCAAGTAAAACAAAGAAATAAACAAAAGTCAGGATGCTGCTCCACTGGGCCTTTGTTGTTCCCCTTACACAACCCACTTGATTTCCTGCTCAGCCTTCCAGACTGAGATCTGGTCTTGCCTTCTCTATGAAGCCTCTACTGCTTGTCCCACAGCTCTTCACCCACCTCTTGCCTGGGATGTCCTTTGTGCTCTCACAGCACCGTGAACACACTACTTCCACTCATCCTCCACGCTGTCATGACCATGTGTCTGTGAGCCTGTCTTTCCCCGACAGTGAGCTCCTCTGAGGCTCTATGTGTCACATGGACAGAGTGATGGTTTTTGGCTGAATGCACCAAAGTGTCACTTCCCTCACCCCTAAGGACATTATCTTGCCTTATCTATCTTGCCAAATCCTGACATGTTTTAGTCCCCAATTCAAACTGGCTCTTTTTGAGGAACTTACAGTGAATTCTCAACCCTCTGTCCCTGCCCTTCCTCCTCTGGGCCTCCTCCTCTCCTCCCTGGATCAGTCTGCCTTCCTCCAGTTCTTTCTCCACACTGAGCACCAGAGATCTTTCCAAAGAGTACTCTCTCCAGGATTAAAACCCTCCTGTGGTCCTCACTCTTCAAGATCAGTGAGACTCCTCGGCTCTTTCCTGTGGGGCTCGTGCTGCCATCCTCTCACCTACCCTGCAACTGCTGCCTCAGGGCCACTGAATATGCCATGTGTCAGCTTCACTCAGGGAAAGCTCTTGACCCTGTACCCCAAAGACAGGGAGCCACTGCAATGCGAACTCTGCTCTGAGATCATGTGTTACCCAAGCACACCACACTCCTCACAACTCTTAACCAGCTCAAGTTCCAGCACCTGACACAGGGCGTGGCACAGAATGGGTGGCATCTGCTGAAAGGAAGACAGGGACTCCTATTTTTGTATATATTTTATAAGACATGGTCCCTTGTGACAGCTTTTGGATTGACACTAATTTTAAAAGATGTTTTATGTTTTCTTACCTGACCTGGCTATAATCTCCTTAAGGACAGCGTCTTGGAAGCGTGTGCTGGGCACAGTGCTAGCCCTGTAGCCTTTGCTGACTAAGGACAGGCTGATCACCGGGGGCCTATCAGAACCCATGTTGCTCCCTTGACTTAGAGCCATCACTCACCGTGTTGAAGTACTCAACGCCGGTGGCTTCAAATGCCCTCGCCACAGGCTGGGTTGCGGCCACGCAGGCAACAGGGTGGCCGTTGCCAATGGACTTGCCCATGGTGACGATGTCAGGGACGAAGTCTTTTCCCTGGAGCTGGAAGGCCCAGAAGTGCTTGCCTACCCGGCCAAAGCCAACCTGGATCTCATCTGCAACAAAGACCCCTCCGGCCTTGCGGATGTGCCTGTGGCAGAGGAGATGACTGACACGGGGGCTGTGGTTGAGAGGGATAAGATCAGGACCCAGGAGGTCTCGGGGCTTTGCACCCTGGCTCTGCCAGCAGTAAGGTGGGGACCTTGGGCAATGGCTGGCCTTCTCTGGGCCATTCTTTCTTTAAGGGCTTTGTCTCAAAATTCTGGCAGTCAGGACAGGCTGAGGTTGGGATTTGGACCAGAGGTTGGAAAACCTCATTAGACCCCTGCCCTCCCTAGAGCAGACCCCGCCCACCTACTCACTCTGCCACTTGGGAGAAGTAGCCAGCAGGGGGAATGATCTGCCCTCCCACACTGGGCAGAGACTCAGCGAAGAAGGCTGCAATCTGTGAAGAGATGGACATTGGGAACACGACCATGGGGTTGTGCAGTGACCGGCTTAGCGTGCCCTGCTAGTGCTGGCTTAGTCCAAGCAAGACAAGTCACCATCAGTGCTGCACCCCTACTTTGGGTTCCATGTTACATCTGAAGGTTTGTGACTCAGTTTTCTCTCAGGCCTCCAGCCAACTCTTACTACCTGGATGCCTCCAGGCCCCTAGTACTTGGCATGCCCCAAACTACATGCACTGATTTTTCCACCATAAGCCAGTTCCTTCCCTGTCCCCCATTTTTGATCCACGCCTCCTCCCTCAACCCATCAGTCAGCACTGCCCAAGGATTCTACCTCAGCCCCCTCTCTAAACCTACTCCTTGCCCTCTGCCTGGACATGCCTGCCTCCTGCAGATTTGCCTGTTTCTTCCTTGGACTCCTGCAGAGGTCTTCTAACTGAATGCCTTTTCCAGTCCATCCTCCACATGGCCACCAGGGTGATGATGCCTCAACCCAGAGAACTGAGCATGTCACTGTTGTTTAAAACCCCTCAGTGACCCCTTCTGCATATGGCAATGATTTCCCAACCATATTCTGCCTTACAGGTGGGAGGGCAGGGCCAATGGGATGGGATACTGGTCCCCCACACCTGTTGCAATCAGAGCAATCTCCTTTTTTAGGTTTTATAGAAGTGGTCGCAGAGCACCTGAAACACACAGGCAAGGCTCCCCTGGTCGGGTTCTGCTAACCTTTCTGGCCCCACAGGCTGCCTTTCTTTGTCGTACCTCCTGTGTCTGGCTCTGTCACTCCTTCAGTGAAGCCTTCAGAGAGCCCTCACCTGTCGCCAACAGTCTTCCCTCTGTTGTCACCGTAGGTAACACACCTCTCTCTCCTATGTCTGCGCCTCCACTCCATCTCCACCATACTGCCCCCGTCAGGCCTCCCCACAGCTCACTTGGGGCCTGCTGGCCACTTCACGGTCACCTGACCTCAAGCCGCCGCATTCCAATCCATCCTCCACATAGCCCTGGAGTCAGAGAGCAGCCCCGGCCCCAGGTCTTAGCGCTCTCCTGCTTAAGACTCTGGTGGTTCCCGGGGGCCTCCAGGGCAGAACTGCTGCCGCCCAGCATAGTTCCGGTGCCCTCTGGCATGTGGACCCTGCCTGCCTCTCCAGGATCAGCTCCTGGCCACACATTCACACGGTTCCTCAGCCACCCAGTGGGATGCCCTTCCTCTGCTACTCCCCACCCCACCTGGAGTGGCTGACCCCTACTGTGTCAGAGAGCACCCCCTCCAAGGACCCCGCTTGGTACCTCCCAAGGCCTGCTCAGGCTCTGGCTGGCTACCACGCCCATGCTAGGCCGTGCACTCAGACTCTCTGCTGAGCCCAAACTGCCCCTATCCCAGATTCCTGGAGGGCAGGGCCTCGTTTGGTTTTCTCTCTGGGTTCCCAGCATCTAGCACAGTGGCGGTGACAACGGAGGTGACATTCACTGTTGGCTGGATTGGACAGGCGCGGACACGGTTACCTTCCTGCCCTTCTCCTGTGCACTGCTGACCACACGTTTCACCTCGTTGGCATAGGCCATAGCTGGGTTGGGGTGGTCCTCCCGGTAGGGGCCCCGGTAGGTGTCTGGGAGAGGTGCCTGTGGGGAGTGACAGCGCCATGTTATCCGGGCTTGGGGACAGGCAC
AGGATATACACTATATACACTACTGGTGGGGTGTTAACTTGTGAACTACTTTAGAAAACAAATGTCATTATCTTTTAAAATGAAGGGTAAACACATACCATATGGGCCAGCAATTCCACCCTCAGGTACAGTCCTAAGAAAAACTCTTGCTACATGTACAACAGAGACTTATGAAAACTATTCAAAGCAGCACTGTTCATAATTGCAAAAAAAAAAAAAAAACAAAAAAAACATGGAACGACCTCAAAGCACAGCAATAGTAATGGATGACTGAACTGTGGTACATTTATACAAAGATTATAAAGCAGTCAAAGCAAATGAACTTCAGTGACAGGCAATAGGGAGGATTCTTAGTGATATGTTAGTAGAAAAAAAAATCCCCAGAGTATATACAGCATGATAGACTTCATATAAACTCAAATAACAACTAAATAATATGGGATTGAGAGTGATGGTTACCATGGTTATTCAGAGTGATGGGTGGAGAAGGCAACAAGAGGGAATTGGGGGGAACATCTGGAGAGATACATGATATTATCAAGGTCTAAGCTTTCATTAGGGATGCTGGCTTCCCAGGTGCTTAGAACATTAATAAAGGTTAACTGAATAACTAGAAGAGGGCTATGCACAGACAGATGTTGAGAGTCTTCCATGAACCAAGGATTCTATCTAATTATGTACACTTGAGGGTCAAGTAAAACAAAGAAATAAACAAAAGTCAGGATGCTGCTCCACTGGGCCTTTGTTGTTCCCCTTACACAACCCACTTGATTTCCTGCTCAGCCTTCCAGACTGAGATCTGGTCTTGCCTTCTCTATGAAGCCTCTACTGCTTGTCCCACAGCTCTTCACCCACCTCTTGCCTGGGATGTCCTTTGTGCTCTCACAGCACCGTGAACACACTACTTCCACTCATCCTCCACGCTGTCATGACCATGTGTCTGTGAGCCTGTCTTTCCCCGACAGTGAGCTCCTCTGAGGCTCTATGTGTCACATGGACAGAGTGATGGTTTTTGGCTGAATGCACCAAAGTGTCACTTCCCTCACCCCTAAGGACATTATCTTGCCTTATCTATCTTGCCAAATCCTGACATGTTTTAGTCCCCAATTCAAACTGGCTCTTTTTGAGGAACTTACAGTGAATTCTCAACCCTCTGTCCCTGCCCTTCCTCCTCTGGGCCTCCTCCTCTCCTCCCTGGATCAGTCTGCCTTCCTCCAGTTCTTTCTCCACACTGAGCACCAGAGATCTTTCCAAAGAGTACTCTCTCCAGGATTAAAACCCTCCTGTGGTCCTCACTCTTCAAGATCAGTGAGACTCCTCGGCTCTTTCCTGTGGGGCTCGTGCTGCCATCCTCTCACCTACCCTGCAACTGCTGCCTCAGGGCCACTGAATATGCCATGTGTCAGCTTCACTCAGGGAAAGCTCTTGACCCTGTACCCCAAAGACAGGGAGCCACTGCAATGCGAACTCTGCTCTGAGATCATGTGTTACCCAAGCACACCACACTCCTCACAACTCTTAACCAGCTCAAGTTCCAGCACCTGACACAGGGCGTGGCACAGAATGGGTGGCATCTGCTGAAAGGAAGACAGGGACTCCTATTTTTGTATATATTTTATAAGACATGGTCCCTTGTGACAGCTTTTGGATTGACACTAATTTTAAAAGATGTTTTATGTTTTCTTACCTGACCTGGCTATAATCTCCTTAAGGACAGCGTCTTGGAAGCGTGTGCTGGGCACAGTGCTAGCCCTGTAGCCTTTGCTGACTAAGGACAGGCTGATCACCGGGGGCCTATCAGAACCCATGTTGCTCCCTTGACTTAGAGCCATCACTCACCGTGTTGAAGTACTCAACGCCGGTGGCTTCAAATGCCCTCGCCACAGGCTGGGTTGCGGCCACGCAGGCAACAGGGTGGCCGTTGCCAATGGACTTGCCCATGGTGACGATGTCAGGGACGAAGTCTTTTCCCTGGAGCTGGAAGGCCCAGAAGTGCTTGCCTACCCGGCCAAAGCCAACCTGGATCTCATCTGCAACAAAGACCCCTCTGGCCTTGCGGATGTGCCTGTGGCAGAGGAGATGACTGACACGGGGGCTGTGGTTGAGAGGGATAAGATCAGGACCCAGGAGGTCTCGGGGCTTTGCACCCTGGCTCTGCCAGCAGTAAGGTGGGGACCTTGGGCAATGGCTGGCCTTCTCTGGGCCATTCTTTCTTTAAGGGCTTTGTCTCAAAATTCTGGCAGTCAGGACAGGCTGAGGTTGGGATTTGGACCAGAGGTTGGAAAACCTCATTAGACCCCTGCCCTCCCTAGAGCAGACCCCGCCCACCTACTCACTCTGCCACTTGGGAGAAGTAGCCAGCAGGGGGAATGATCTGCCCTCCCACACTGGGCAGAGACTCAGCGAAGAAGGCTGCAATCTGTGAAGAGATGGACATTGGGAACACGACCATGGGGTTGTGCAGTGACCGGCTTAGCGTGCCCTGCTAGTGCTGGCTTAGTCCAAGCAAGACAAGTCACCATCAGTGCTGCACCCCTACTTTGGGTTCCATGTTACATCTGAAGGTTTGTGACTCAGTTTTCTCTCAGGCCTCCAGCCAACTCTTACTACCTGGATGCCTCCAGGCCCCTAGTACTTGGCATGCCCCAAACTACATGCACTGATTTTTCCACCATAAGCCAGTTCCTTCCCTGTCCCCCATTTTTGATCCACGCCTCCTCCCTCAACCCATCAGTCAGCACTGCCCAAGGATTCTACCTCAGCCCCCTCTCTAAACCTACTCCTTGCCCTCTGCCTGGACATGCCTGCCTCCTGCAGATTTGCCTGTTTCTTCCTTGGACTCCTGCAGAGGTCTTCTAACTGAATGCCTTTTCCAGTCCATCCTCCACATGGCCACCAGGGTGATGATGCCTCAACCCAGAGAACTGAGCATGTCACTGTTGTTTAAAACCCCTCAGTGACCCCTTCTGCATATGGCAATGATTTCCCAACCATATTCTGCCTTACAGGTGGGAGGGCAGGGCCAATGGGATGGGATACTGGTCCCCCACACCTGTTGCAATCAGAGCAATCTCCTTTTTTAGGTTTTATAGAAGTGGTCGCAGAGCACCTGAAACACACAGGCAAGGCTCCCCTGGTCGGGTTCTGCTAACCTTTCTGGCCCCACAGGCTGCCTTTCTTTGTCGTACCTCCTGTGTCTGGCTCTGTCACTCCTTCAGTGAAGCCTTCAGAGAGCCCTCACCTGTCGCCAACAGTCTTCCCTCTGTTGTCACCGTAGGTAACACACCTCTCTCTCCTATGTCTGCGCCTCCACTCCATCTCCACCATACTGCCCCCGTCAGGCCTCCCCACAGCTCACTTGGGGCCTGCTGGCCACTTCACGGTCACCTGACCTCAAGCCGCCGCATTCCAATCCATCCTCCACATAGCCCTGGAGTCAGAGAGCAGCCCCGGCCCCAGGTCTTAGCGCTCTCCTGCTTAAGACTCTGGTGGTTCCCGGGGGCCTCCAGGGCAGAACTGCTGCCGCCCAGCATAGTTCCGGTGCCCTCTGGCATGTGGACCCTGCCTGCCTCTCCAGGATCAGCTCCTGGCCACACATTCACACGGTTCCTCAGCCACCCAGTGGGATGCCCTTCCTCTGCTACTCCCCACCCCACCTGGAGTGGCTGACCCCTACTGTGTCAGAGAGCACCCCCTCCAAGGACCCCGCTTGGTACCTCCCAAGGCCTGCTCAGGCTCTGGCTGGCTACCACGCCCATGCTAGGCCGTGCACTCAGACTCTCTGCTGAGCCCAAACTGCCCCTATCCCAGATTCCTGGAGGGCAGGGCCTCGTTTGGTTTTCTCTCTGGGTTCCCAGCATCTAGCACAGTGGCGGTGACAACGGAGGTGACATTCACTGTTGGCTGGATTGGACAGGCGCGGACACGGTTACCTTCCTGCCCTTCTCCTGTGCACTGCTGACCACACGTTTCACCTCGTTGGCATAGGCCATAGCTGGGTTGGGGTGGTCCTCCCGGTAGGGGCCCCGGTAGGTGTCTGGGAGAGGTGCCTGTGGGGAGTGACAGCGCCATGTTATCCGGGCTTGGGGACAGGCAC
Task1_train_9906
A variant found in Chromosome 5 affects GRM6, ZNF454 (glutamate metabotropic receptor 6| zinc finger protein 454). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Retinal dystrophy
TGGCATTGGGAATCTCATGGGGGCGCACCCCAGTTCCTCAGCTCACTCCCGCGCCCACTGCAGGCCCTTCCCATGCTCACAGGGGTCTCACCCAGGGTCTCTCCCTCCGTGCCAGAGGAATCCTACCCAGGCCTGAGTGCCTCCATCCAGATGCACAGCCCCAGGTCTCCTCTTGCTGAGACAGCTCCTCCTCCACTCCAACCCCATGTTTCATTCTGGGGTCTACACGTTCTTCCACACTGCCCAATCCCCAGGTTATGGGGGTTGACTGAGGGGAGGAAATCTCCCGCAAACCAGGCAAAGCCCAGGGCTTCATCATCCTCTTTGGACTTCGGATGAGAGAATAAGTTTAGTCCCTTTCTAGAGCTAGAACCTTCTCGGTGGCTGTTTCCCACCATGGGAAGCGAGTCTGGTCTGTGGTGAGGAAGCATGAAGCTCACATGCTGGAATCGGGGTAGAGCTGGGTCCAGTTCCTTCTCAAGGCCAGCCCCACCGACGCGGAGCATGGTCTTGGCAAACTCCCTGCCACTGACTGTTCACCGTGGACCCGGGCTCTATACAGCTTCCACCTCGAGGCAAGAGGAAGAAAGGAGAGGCAGCAAGCAGTCCCGTTCCCACCTGCCCTGCTACTTGTGGGCCTCTGCATCCTCGCCCTTGGGTGGGGCTGCCACCGTGGAGGTGGCCTTGAGGCTCCGCTTTCGCTTCTGCACATTCTGCTCTGGATGGAAGAGGATGACGTAGGTTTTGGGTACGTAGAGCATGCCGAGGGACACCGAGGCACTCAGGCTCAAGGACACGGTTAGCGTGGTTGTCTGGATGTAGATCTAGGCCATGGAAGAGGGGACCAGATGGGACTCAGCCCTGCTCTCCCTGCCCCGCTCCACACAGTCCTCACCACATACTCTGGAGCTGAGTCTGTTTCAGTTGGGGAACTGGGAATGAGCACTTAGACCAGGACAACAGTATGAGCAGGGGCCCCGCGCCTGAGGGGCTGGCAGCCTCCATGCAGCTCTGGTGTGGGCAGGAGGGAGGGGTGAGGAGGGGTTATTAACAGAGAGACACCTGGGGAAGCGGGAGCCGGGGCATGTCAGTGAATGAGCACGTTTCAAATACATACAAATGAATAAATGGGCAGAGACAAACTTCAGGAGCAGATGGGCAAATAAATGGATGACAGGTGCATAAAATATTCTGCCGCATACGTGAATAAATGATGCAGCAATGGGCTGACGCATTAATGGGTTGGCAGTTATAAAGCACATGAAGCCTGGGCGCAGTGGCTCACGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCAGATGGGTCACTTGAGGTCAAGAATTTGAGACCAGTCTGACTAATATGGTGAAACCCCATCTCTACTAAAATTACAAAAATTGCCCAGGCGTGGTGGCAGGCACCTGTAGTCCCAGCTACGGGGGAGGCTGAGGCTGGAGAATCACTTGACCCAGGAGGCGGAGCTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCATATGAAGAACTTGAATTAAAAAAAACAAGCTAACTGTAACTGGGTGACAGAGTGAGGCAATATCTCTCAAAGAAATGAAAATGATAAAAAAAAAAAAGAAAAAAAGAAGAGTGGAAGTTAAGAAGAGGGGTTAGAAGCTTGGAAAAGTGAATGAATGAACAAAGTAAGAAGGGAATGAGTGAATGAACAAGCAGCCAGATACGGGATAAACAAAAGCACGAACAAGCATTTAATCTCATGAATGAATCGACCAGCCTGACAGGCAGGAAACAGGCAGCGAGACCTCCTGGGGACCTCATTACCTTTTCAGCTGACTGGGCAGTGCCAAAGAAGATGGGCACGAATGCCAGCCAGATGATGCAGGTGGTGTACATGGTGAAGCCGATGGGCTTGGCCTCGTTGAAGGTCTCGGGCACGCCACGGGCCTTGATGGCGTACACTGTGCACGTGACCATGAGCAGGAGGCTGTAGCCCAGGCAGCCGATGAGAGACAGATCCGACATGTCGCACTTGAGCACCCCTCTGGCCTGCTCGGGGTCCACCGTCCGCTGTTCCTCATAGTCAATCACGCTGTGTGGGGGCCGGGCCCCCAGCCATGCTATCATCCCCACCACCTGCAGGAGCCAACACTGCATCAGACACAGCACTTTCCAGGGACAAATCCATTCCAGCCCTGACAGAGGCCCCTGCGGGTCAGGATCCCCTTGAGGCTCTGGCCTATGGAGGGGATGCTCCACCTCTTCGTGGTGGCTCTCAGGAGCACTCAGTGGAGAAGAGGGGATGGCAGCCCAGGCAGGGGCAGCCCAAGAGGGGTCCGTCCAAAGGCCCGTGACCTGGCAGCTGCGGAGAAGGGCTGTGCCGCCCGTATATGTTGGCAACATCAGTGCAGTGTGCATAAGGGGCAGCTTGGTGTCCTCTTCCTGCATTCTAGCCATTACCAATGCCATTTACTGCGCCCCTTCAAGGTAGATGGATGTGGCCGGAAGCTCTGGAACTGAGGCCCTACTCGCATCGCCTCTCTAGCCTCCTCACGTGTACTGAGCTTCAAAATCAGGGCACGCCACAGGCAAGAGAAACAAAGGAGCACTCAGTGGGGAGGAGCAGGAATGGGAGCTGATGCCGAGGAGTACTGGAGTCTGTGCAGGCCCTCACAGGGAGGAGATGGAGTTACCACTCCCTCACATGACAGGAAGCACAACCTCAAGCCAAGGAAAGCTGGGGAACAGGAACGAAGCCACCTGCATAAAGGCGGGACCCTGGAAGGGCTGCCCCACACGTTCGTGCTGGTTGTTCACTGTACGAGAGCGCCTGATTGGGGGCAGGGGTGGAGCTGGAATCCAGCCTGCATGCCAGTGCCATGCCGAGCACCTGGAGCAGGGCCATGTGATCCTGCTGGAAGGGATGCTTTGCAGTCATCTGCCCACCCAGAAGCAGCAGCTTTTTGTGCTTCTCCCAAAGGCAGCAGACCCCTGAACAAAGGACCTTCCAAATAAGTGGATCACGAGGTCAGGAGATCGAGACCAACTTCCAAAATAAGTTTGGAAGTTCCTACTAGAACAAGGCTCCAGGTGGAAAAAAAAAAAGTTGCTCATGAGAAACAAAAATGCAAGCCCAGGGCTGCACAGCGGTAACCACCAAAACGGCCCACAGATGCCGCAGCCCGTGGAGTGGGGAGCGAGCGAGCACGCCTCACTCGGAACGGACTCCTGCAAAATAACAGCAAATGAGCAAAGGACAGGAACAGGCTGAGCCCAGGAGAGGAAAGCCCCATGGCCGGCGCACTGGTGCTAAGTGCAGGCGAATTGAAGCCACAGTGAGATGCCATTTTGCAGCCCGTCATGACGTGGTAGTCATGGCAAAACACCTAGGCCAGTTGCAGGCTTGTGTGTTTTTAAAGATCCCTTGTATCTGGAAAAGAGGGTACAGTGTGGGGCGGGCAGTGGCTGAGGCTGGGGAGGAGAGCTGGGGGTCCCCAACGGGGTCTAAGCATCTCCACCTGAGGGTGGGGGAGCAGGAGCACCTCAGGCCGGGACGTAGAGGGCACCTTCTCAGGATGTGCGGCACACGGAGACCCTGGGCCTGACCAGGGGACACTCAGGCCCTGTTACGTGGAGGAAGACGGGAGCACCTCCTAGTCACGGAGAACTGCATGACCCGAGGCACGTGGCGTGTGTGGAACGAATAGAGAAGGGGCTCGCCGGGAGTGGACAGCACCGGGAGTGCTCCAAACGGGTGAGCAGGTGTTCGCACTGAGGCCACCCTCCACCTGGCCCTGAGAACCCAGCTGGCCCTGCAGTGTCACACCAGGTCACCCTCCCCAAGCCATCTGTCTCTCGTACTCTTCACACAGAAAACATCCAGGGCGCCCCAGACTCCAAGAGTTGTCTCCAAGGCTGTAATAACTTTACTGTCTTAGGAAAATCCCCCAAAGGAGCTCCATTATTTAACGGCCAGCACGAAACGCTGGCCACTGGATGGAATTCGATGCTCTTCCACAGTAAAATGTTGGACCCTGTGCC
TGGCATTGGGAATCTCATGGGGGCGCACCCCAGTTCCTCAGCTCACTCCCGCGCCCACTGCAGGCCCTTCCCATGCTCACAGGGGTCTCACCCAGGGTCTCTCCCTCCGTGCCAGAGGAATCCTACCCAGGCCTGAGTGCCTCCATCCAGATGCACAGCCCCAGGTCTCCTCTTGCTGAGACAGCTCCTCCTCCACTCCAACCCCATGTTTCATTCTGGGGTCTACACGTTCTTCCACACTGCCCAATCCCCAGGTTATGGGGGTTGACTGAGGGGAGGAAATCTCCCGCAAACCAGGCAAAGCCCAGGGCTTCATCATCCTCTTTGGACTTCGGATGAGAGAATAAGTTTAGTCCCTTTCTAGAGCTAGAACCTTCTCGGTGGCTGTTTCCCACCATGGGAAGCGAGTCTGGTCTGTGGTGAGGAAGCATGAAGCTCACATGCTGGAATCGGGGTAGAGCTGGGTCCAGTTCCTTCTCAAGGCCAGCCCCACCGACGCGGAGCATGGTCTTGGCAAACTCCCTGCCACTGACTGTTCACCGTGGACCCGGGCTCTATACAGCTTCCACCTCGAGGCAAGAGGAAGAAAGGAGAGGCAGCAAGCAGTCCCGTTCCCACCTGCCCTGCTACTTGTGGGCCTCTGCATCCTCGCCCTTGGGTGGGGCTGCCACCGTGGAGGTGGCCTTGAGGCTCCGCTTTCGCTTCTGCACATTCTGCTCTGGATGGAAGAGGATGACGTAGGTTTTGGGTACGTAGAGCATGCCGAGGGACACCGAGGCACTCAGGCTCAAGGACACGGTTAGCGTGGTTGTCTGGATGTAGATCTAGGCCATGGAAGAGGGGACCAGATGGGACTCAGCCCTGCTCTCCCTGCCCCGCTCCACACAGTCCTCACCACATACTCTGGAGCTGAGTCTGTTTCAGTTGGGGAACTGGGAATGAGCACTTAGACCAGGACAACAGTATGAGCAGGGGCCCCGCGCCTGAGGGGCTGGCAGCCTCCATGCAGCTCTGGTGTGGGCAGGAGGGAGGGGTGAGGAGGGGTTATTAACAGAGAGACACCTGGGGAAGCGGGAGCCGGGGCATGTCAGTGAATGAGCACGTTTCAAATACATACAAATGAATAAATGGGCAGAGACAAACTTCAGGAGCAGATGGGCAAATAAATGGATGACAGGTGCATAAAATATTCTGCCGCATACGTGAATAAATGATGCAGCAATGGGCTGACGCATTAATGGGTTGGCAGTTATAAAGCACATGAAGCCTGGGCGCAGTGGCTCACGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCAGATGGGTCACTTGAGGTCAAGAATTTGAGACCAGTCTGACTAATATGGTGAAACCCCATCTCTACTAAAATTACAAAAATTGCCCAGGCGTGGTGGCAGGCACCTGTAGTCCCAGCTACGGGGGAGGCTGAGGCTGGAGAATCACTTGACCCAGGAGGCGGAGCTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCATATGAAGAACTTGAATTAAAAAAAACAAGCTAACTGTAACTGGGTGACAGAGTGAGGCAATATCTCTCAAAGAAATGAAAATGATAAAAAAAAAAAAGAAAAAAAGAAGAGTGGAAGTTAAGAAGAGGGGTTAGAAGCTTGGAAAAGTGAATGAATGAACAAAGTAAGAAGGGAATGAGTGAATGAACAAGCAGCCAGATACGGGATAAACAAAAGCACGAACAAGCATTTAATCTCATGAATGAATCGACCAGCCTGACAGGCAGGAAACAGGCAGCGAGACCTCCTGGGGACCTCATTACCTTTTCAGCTGACTGGGCAGTGCCAAAGAAGATGGGCACGAATGCCAGCCAGATGATGCAGGTGGTGTACATGGTGAAGCCGATGGGCTTGGCCTCGTTGAAGGTCTCGGGCACGCCACGGGCCTTGATGGCGTACACTGTGCACGTGACCATGAGCAGGAGGCTGTAGTCCAGGCAGCCGATGAGAGACAGATCCGACATGTCGCACTTGAGCACCCCTCTGGCCTGCTCGGGGTCCACCGTCCGCTGTTCCTCATAGTCAATCACGCTGTGTGGGGGCCGGGCCCCCAGCCATGCTATCATCCCCACCACCTGCAGGAGCCAACACTGCATCAGACACAGCACTTTCCAGGGACAAATCCATTCCAGCCCTGACAGAGGCCCCTGCGGGTCAGGATCCCCTTGAGGCTCTGGCCTATGGAGGGGATGCTCCACCTCTTCGTGGTGGCTCTCAGGAGCACTCAGTGGAGAAGAGGGGATGGCAGCCCAGGCAGGGGCAGCCCAAGAGGGGTCCGTCCAAAGGCCCGTGACCTGGCAGCTGCGGAGAAGGGCTGTGCCGCCCGTATATGTTGGCAACATCAGTGCAGTGTGCATAAGGGGCAGCTTGGTGTCCTCTTCCTGCATTCTAGCCATTACCAATGCCATTTACTGCGCCCCTTCAAGGTAGATGGATGTGGCCGGAAGCTCTGGAACTGAGGCCCTACTCGCATCGCCTCTCTAGCCTCCTCACGTGTACTGAGCTTCAAAATCAGGGCACGCCACAGGCAAGAGAAACAAAGGAGCACTCAGTGGGGAGGAGCAGGAATGGGAGCTGATGCCGAGGAGTACTGGAGTCTGTGCAGGCCCTCACAGGGAGGAGATGGAGTTACCACTCCCTCACATGACAGGAAGCACAACCTCAAGCCAAGGAAAGCTGGGGAACAGGAACGAAGCCACCTGCATAAAGGCGGGACCCTGGAAGGGCTGCCCCACACGTTCGTGCTGGTTGTTCACTGTACGAGAGCGCCTGATTGGGGGCAGGGGTGGAGCTGGAATCCAGCCTGCATGCCAGTGCCATGCCGAGCACCTGGAGCAGGGCCATGTGATCCTGCTGGAAGGGATGCTTTGCAGTCATCTGCCCACCCAGAAGCAGCAGCTTTTTGTGCTTCTCCCAAAGGCAGCAGACCCCTGAACAAAGGACCTTCCAAATAAGTGGATCACGAGGTCAGGAGATCGAGACCAACTTCCAAAATAAGTTTGGAAGTTCCTACTAGAACAAGGCTCCAGGTGGAAAAAAAAAAAGTTGCTCATGAGAAACAAAAATGCAAGCCCAGGGCTGCACAGCGGTAACCACCAAAACGGCCCACAGATGCCGCAGCCCGTGGAGTGGGGAGCGAGCGAGCACGCCTCACTCGGAACGGACTCCTGCAAAATAACAGCAAATGAGCAAAGGACAGGAACAGGCTGAGCCCAGGAGAGGAAAGCCCCATGGCCGGCGCACTGGTGCTAAGTGCAGGCGAATTGAAGCCACAGTGAGATGCCATTTTGCAGCCCGTCATGACGTGGTAGTCATGGCAAAACACCTAGGCCAGTTGCAGGCTTGTGTGTTTTTAAAGATCCCTTGTATCTGGAAAAGAGGGTACAGTGTGGGGCGGGCAGTGGCTGAGGCTGGGGAGGAGAGCTGGGGGTCCCCAACGGGGTCTAAGCATCTCCACCTGAGGGTGGGGGAGCAGGAGCACCTCAGGCCGGGACGTAGAGGGCACCTTCTCAGGATGTGCGGCACACGGAGACCCTGGGCCTGACCAGGGGACACTCAGGCCCTGTTACGTGGAGGAAGACGGGAGCACCTCCTAGTCACGGAGAACTGCATGACCCGAGGCACGTGGCGTGTGTGGAACGAATAGAGAAGGGGCTCGCCGGGAGTGGACAGCACCGGGAGTGCTCCAAACGGGTGAGCAGGTGTTCGCACTGAGGCCACCCTCCACCTGGCCCTGAGAACCCAGCTGGCCCTGCAGTGTCACACCAGGTCACCCTCCCCAAGCCATCTGTCTCTCGTACTCTTCACACAGAAAACATCCAGGGCGCCCCAGACTCCAAGAGTTGTCTCCAAGGCTGTAATAACTTTACTGTCTTAGGAAAATCCCCCAAAGGAGCTCCATTATTTAACGGCCAGCACGAAACGCTGGCCACTGGATGGAATTCGATGCTCTTCCACAGTAAAATGTTGGACCCTGTGCC
Task1_train_9907
A variant was discovered on Chromosome 5, affecting GRM6, ZNF454 (glutamate metabotropic receptor 6| zinc finger protein 454). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; not provided
AAACAAAAATGCAAGCCCAGGGCTGCACAGCGGTAACCACCAAAACGGCCCACAGATGCCGCAGCCCGTGGAGTGGGGAGCGAGCGAGCACGCCTCACTCGGAACGGACTCCTGCAAAATAACAGCAAATGAGCAAAGGACAGGAACAGGCTGAGCCCAGGAGAGGAAAGCCCCATGGCCGGCGCACTGGTGCTAAGTGCAGGCGAATTGAAGCCACAGTGAGATGCCATTTTGCAGCCCGTCATGACGTGGTAGTCATGGCAAAACACCTAGGCCAGTTGCAGGCTTGTGTGTTTTTAAAGATCCCTTGTATCTGGAAAAGAGGGTACAGTGTGGGGCGGGCAGTGGCTGAGGCTGGGGAGGAGAGCTGGGGGTCCCCAACGGGGTCTAAGCATCTCCACCTGAGGGTGGGGGAGCAGGAGCACCTCAGGCCGGGACGTAGAGGGCACCTTCTCAGGATGTGCGGCACACGGAGACCCTGGGCCTGACCAGGGGACACTCAGGCCCTGTTACGTGGAGGAAGACGGGAGCACCTCCTAGTCACGGAGAACTGCATGACCCGAGGCACGTGGCGTGTGTGGAACGAATAGAGAAGGGGCTCGCCGGGAGTGGACAGCACCGGGAGTGCTCCAAACGGGTGAGCAGGTGTTCGCACTGAGGCCACCCTCCACCTGGCCCTGAGAACCCAGCTGGCCCTGCAGTGTCACACCAGGTCACCCTCCCCAAGCCATCTGTCTCTCGTACTCTTCACACAGAAAACATCCAGGGCGCCCCAGACTCCAAGAGTTGTCTCCAAGGCTGTAATAACTTTACTGTCTTAGGAAAATCCCCCAAAGGAGCTCCATTATTTAACGGCCAGCACGAAACGCTGGCCACTGGATGGAATTCGATGCTCTTCCACAGTAAAATGTTGGACCCTGTGCCTCTCATCCACACTGCCCCAGGGAGCAGGGCAGCAGAGACTCCCTTGTGGAAACAGGAAAACCGGTCAGATAGCTCTTTGACCTGTTTCCATATGTGAGCCAAATTGTAGAAGAGCATTTTGGTTTAGAAAATAACTTCACTGTTGTACAGAAAGATCTCTGGAGGCCCACACTCCCCACCTGACTGCCCCGTTTTCCTTCAAGGACCCAGCAGGGGAGATGGCGGCCCTAACTGAGCTGCTGTCACAGGAGGGGAGGGGCTCCATTTCCTGTGGCCTTAAAAAAAAAAAAAAACTCACTGGGCGCAGCGGCTCCCGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAGCCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGAAGGCAGAGCTTGCAGGGAGCTGAGATAGTGCCACTGCACTCCAGCCTGGGCGACACAGCGAGACTCTGTCTAAAAAAAAAAAAACAAAACAACACAGGAACCAAAATAGAAAAGAGTGACTCTAAAAACGGCATTTATCTTTTTGTTTTGAGACAGGGTCTTACTCTGACACCCAAGCTGGATTGTAGTGGTGCGATCTTGGCTCACAGCAACCTTCAACTCTTGGGCTCAAGCGATCCTCCTATTTCAGCCTCCCAAGTAGCTAGGACTACAGGCACGCACCACCATGCCTGGCTAATTTTCATATTTTTTGCAGAGACAGGGTCATGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAGGTGATCCACCCACCTCAGCCTCCAAAGGTGCTGGGACTACAGGCGTGTGCCACTGTGCCTGGCCCTTTTGGCTTTGTAACGTTGCGGACAGTCCCCCTCCCTGCCCTGGCCCTTGGGAGCCTACGGACCCACCTGCAGGGAGGTGAGGCTGAAGGTGATGACCAGCTGTGAGGTGGGGCTGATGAAGGGAGGGGGTGTGACCGAGCGCTTGCCCTGCTCAAAGATGCGGTAGATACGGTTGGTCTTGGTGAGCAGGGCAGAGTAGCTGAGGGTCGTGCCCAGGCCCAGGAAGAGCCTGCGGGCGGCACAGACCGCGGCCCCAGGCTCAGCCACCATGAGGAAGGTGATGGCGTAGATGAGGAAGATGCCGGTGAGGAGGACGTAGCTGAGCTCTCGGCCCGAGGCCCGGACGATGGGCGTGTTGTTGTACCGCACGAAGGTGGCCACCACCGTGGTAGTGGCCACGATGCCCAGCACGGCCAGGAGGAGCGGCGGGGCTGCCCAGGGGGAGGACCAGCTCAGGCGCACCACAGGTGTGGGGCGGCAGCCCGTGTGGTTGGGCGTGGGCCTCATGTCCCCAGGACAGGCCTCGCATGTGAACTCGTCCACCTGGAAGCGGTACCCGTCACAGGCCTCGCAGTGCCAACAGCAGGGGACGCCCTTCACCATCTTCTTCCGCTCCCCCGGCCCGCAGGGCAGGCTGCACAGAGACGAGGGCACCTCGTGGGGGTCGCCAGACCACTGCAGGGCCTCCACCTGGGACGCACAAAACACAGGCTGGGGCGTCTGCCTCCGGGATCCTGGGCCCATGCCCACCTGGGGCTCGGTCTGCACACTCACATCCAGTCTGAGGGTCTCTGCCCACTGGCCCACTGCCTGGTACCCGCCACTGCTGGCACTGCCATTGGTCGCCTGGTACTGGAAGATGTCGTACCGCCCGGGCGCATCTCCGTTCTCGTTGAACATCACAGGGGTTCCTGCGCTGCCTGGAGAGAGAGTCCGTCATCCTCGGTGGTCCTCCAGCCCAGCAGAGCTGGCCTCCTGGGGAGGCCCCAGGGACCAGCAGGAGAAAGGAGGAGCTTAACAAGCATCACTGCTCATAAGGGACGTGCAAATCCAAGCCGCAGGGAGATCCCCCTTCACCCATTGGGATGGCTTCTAGCCAAGAACCAGAAAATAACGAGTGTTGTGAGCGTGTGGAGAAGTCGGAACCCTTGTGCACGGTGGGTGGGAAAAGGCTGCAGCCGCTGCAGAAAACAGTGTGGAGCCTCCTCAAAAGATTAAACACATGACCCAGCAGTTCCACTCCCGGGTAGATACTCGAGAGACTAGAAAGCAGGGTGGCAAGAAATGCTTGTACAGCCACGTTCACAGCAGCGTTATTCACATAGCCACAAGATGAAAGCAACCCGAGCGTCCACTGACAGAAGAATGGACGAACACGACGGGGCCATTCACACAATGGGATGCGATTCAGCCTTCAAAAGGAAGGCAGTTCTGACCCATGCTATAAAATGGATGGACCTGGAGGACATGATGCTCGGTGAAACAAGCCAGTCACACATGCGCAAATACCGTCTGATGCCACCACAGGAGGTACCGAGGGTAGACAATTCATAGAGAGGGGCCGTGGAATGGCGGTTGCAGGTGCTGGCGGGAGGAGGGGATGGGGAAGTGTTTAATGCATACAGAGTTATGGTTTCATAGATGAAGAGTTCTGGGGATAGATGGTGGTGATGGTTGCATAACATTGTGAATTTATTATTTATTTATTTATTTAGAGACAGAGTCTCACTGTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCCCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGTCTCAGACTCCCGAGTAGCTGGGATTATAGGCACCCGTCGCCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGTCTCGGCCTCCCAAAGTGCTCAGATTACAGGAGTGAGCCATTGCGCCCAGACTGAATGTATTTAATATCACTGAACTCTACACTTAAAAAATGGTTAAGGTGATACATTTTATATTATATGTATTTTATCACAATTAAAAATGAAAAAAGTTTCACTGTCCAGGCGAGAGGATGAGTTCAGACACGGAGAGAGGTCTGAGTGACAGTATGAAATTGGAATGACTTGAACAATGAGCTCTATTTTTCTTACAAGCTTGTTCCACCAGCTTGCAGAGATGCTCTGGAGTCATA
AAACAAAAATGCAAGCCCAGGGCTGCACAGCGGTAACCACCAAAACGGCCCACAGATGCCGCAGCCCGTGGAGTGGGGAGCGAGCGAGCACGCCTCACTCGGAACGGACTCCTGCAAAATAACAGCAAATGAGCAAAGGACAGGAACAGGCTGAGCCCAGGAGAGGAAAGCCCCATGGCCGGCGCACTGGTGCTAAGTGCAGGCGAATTGAAGCCACAGTGAGATGCCATTTTGCAGCCCGTCATGACGTGGTAGTCATGGCAAAACACCTAGGCCAGTTGCAGGCTTGTGTGTTTTTAAAGATCCCTTGTATCTGGAAAAGAGGGTACAGTGTGGGGCGGGCAGTGGCTGAGGCTGGGGAGGAGAGCTGGGGGTCCCCAACGGGGTCTAAGCATCTCCACCTGAGGGTGGGGGAGCAGGAGCACCTCAGGCCGGGACGTAGAGGGCACCTTCTCAGGATGTGCGGCACACGGAGACCCTGGGCCTGACCAGGGGACACTCAGGCCCTGTTACGTGGAGGAAGACGGGAGCACCTCCTAGTCACGGAGAACTGCATGACCCGAGGCACGTGGCGTGTGTGGAACGAATAGAGAAGGGGCTCGCCGGGAGTGGACAGCACCGGGAGTGCTCCAAACGGGTGAGCAGGTGTTCGCACTGAGGCCACCCTCCACCTGGCCCTGAGAACCCAGCTGGCCCTGCAGTGTCACACCAGGTCACCCTCCCCAAGCCATCTGTCTCTCGTACTCTTCACACAGAAAACATCCAGGGCGCCCCAGACTCCAAGAGTTGTCTCCAAGGCTGTAATAACTTTACTGTCTTAGGAAAATCCCCCAAAGGAGCTCCATTATTTAACGGCCAGCACGAAACGCTGGCCACTGGATGGAATTCGATGCTCTTCCACAGTAAAATGTTGGACCCTGTGCCTCTCATCCACACTGCCCCAGGGAGCAGGGCAGCAGAGACTCCCTTGTGGAAACAGGAAAACCGGTCAGATAGCTCTTTGACCTGTTTCCATATGTGAGCCAAATTGTAGAAGAGCATTTTGGTTTAGAAAATAACTTCACTGTTGTACAGAAAGATCTCTGGAGGCCCACACTCCCCACCTGACTGCCCCGTTTTCCTTCAAGGACCCAGCAGGGGAGATGGCGGCCCTAACTGAGCTGCTGTCACAGGAGGGGAGGGGCTCCATTTCCTGTGGCCTTAAAAAAAAAAAAAAACTCACTGGGCGCAGCGGCTCCCGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAGCCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGAAGGCAGAGCTTGCAGGGAGCTGAGATAGTGCCACTGCACTCCAGCCTGGGCGACACAGCGAGACTCTGTCTAAAAAAAAAAAAACAAAACAACACAGGAACCAAAATAGAAAAGAGTGACTCTAAAAACGGCATTTATCTTTTTGTTTTGAGACAGGGTCTTACTCTGACACCCAAGCTGGATTGTAGTGGTGCGATCTTGGCTCACAGCAACCTTCAACTCTTGGGCTCAAGCGATCCTCCTATTTCAGCCTCCCAAGTAGCTAGGACTACAGGCACGCACCACCATGCCTGGCTAATTTTCATATTTTTTGCAGAGACAGGGTCATGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAGGTGATCCACCCACCTCAGCCTCCAAAGGTGCTGGGACTACAGGCGTGTGCCACTGTGCCTGGCCCTTTTGGCTTTGTAACGTTGCGGACAGTCCCCCTCCCTGCCCTGGCCCTTGGGAGCCTACGGACCCACCTGCAGGGAGGTGAGGCTGAAGGTGATGACCAGCTGTGAGGTGGGGCTGATGAAGGGAGGGGGTGTGACCGAGCGCTTGCCCTGCTCAAAGATGCGGTAGATACGGTTGGTCTTGGTGAGCGGGGCAGAGTAGCTGAGGGTCGTGCCCAGGCCCAGGAAGAGCCTGCGGGCGGCACAGACCGCGGCCCCAGGCTCAGCCACCATGAGGAAGGTGATGGCGTAGATGAGGAAGATGCCGGTGAGGAGGACGTAGCTGAGCTCTCGGCCCGAGGCCCGGACGATGGGCGTGTTGTTGTACCGCACGAAGGTGGCCACCACCGTGGTAGTGGCCACGATGCCCAGCACGGCCAGGAGGAGCGGCGGGGCTGCCCAGGGGGAGGACCAGCTCAGGCGCACCACAGGTGTGGGGCGGCAGCCCGTGTGGTTGGGCGTGGGCCTCATGTCCCCAGGACAGGCCTCGCATGTGAACTCGTCCACCTGGAAGCGGTACCCGTCACAGGCCTCGCAGTGCCAACAGCAGGGGACGCCCTTCACCATCTTCTTCCGCTCCCCCGGCCCGCAGGGCAGGCTGCACAGAGACGAGGGCACCTCGTGGGGGTCGCCAGACCACTGCAGGGCCTCCACCTGGGACGCACAAAACACAGGCTGGGGCGTCTGCCTCCGGGATCCTGGGCCCATGCCCACCTGGGGCTCGGTCTGCACACTCACATCCAGTCTGAGGGTCTCTGCCCACTGGCCCACTGCCTGGTACCCGCCACTGCTGGCACTGCCATTGGTCGCCTGGTACTGGAAGATGTCGTACCGCCCGGGCGCATCTCCGTTCTCGTTGAACATCACAGGGGTTCCTGCGCTGCCTGGAGAGAGAGTCCGTCATCCTCGGTGGTCCTCCAGCCCAGCAGAGCTGGCCTCCTGGGGAGGCCCCAGGGACCAGCAGGAGAAAGGAGGAGCTTAACAAGCATCACTGCTCATAAGGGACGTGCAAATCCAAGCCGCAGGGAGATCCCCCTTCACCCATTGGGATGGCTTCTAGCCAAGAACCAGAAAATAACGAGTGTTGTGAGCGTGTGGAGAAGTCGGAACCCTTGTGCACGGTGGGTGGGAAAAGGCTGCAGCCGCTGCAGAAAACAGTGTGGAGCCTCCTCAAAAGATTAAACACATGACCCAGCAGTTCCACTCCCGGGTAGATACTCGAGAGACTAGAAAGCAGGGTGGCAAGAAATGCTTGTACAGCCACGTTCACAGCAGCGTTATTCACATAGCCACAAGATGAAAGCAACCCGAGCGTCCACTGACAGAAGAATGGACGAACACGACGGGGCCATTCACACAATGGGATGCGATTCAGCCTTCAAAAGGAAGGCAGTTCTGACCCATGCTATAAAATGGATGGACCTGGAGGACATGATGCTCGGTGAAACAAGCCAGTCACACATGCGCAAATACCGTCTGATGCCACCACAGGAGGTACCGAGGGTAGACAATTCATAGAGAGGGGCCGTGGAATGGCGGTTGCAGGTGCTGGCGGGAGGAGGGGATGGGGAAGTGTTTAATGCATACAGAGTTATGGTTTCATAGATGAAGAGTTCTGGGGATAGATGGTGGTGATGGTTGCATAACATTGTGAATTTATTATTTATTTATTTATTTAGAGACAGAGTCTCACTGTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCCCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGTCTCAGACTCCCGAGTAGCTGGGATTATAGGCACCCGTCGCCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGTCTCGGCCTCCCAAAGTGCTCAGATTACAGGAGTGAGCCATTGCGCCCAGACTGAATGTATTTAATATCACTGAACTCTACACTTAAAAAATGGTTAAGGTGATACATTTTATATTATATGTATTTTATCACAATTAAAAATGAAAAAAGTTTCACTGTCCAGGCGAGAGGATGAGTTCAGACACGGAGAGAGGTCTGAGTGACAGTATGAAATTGGAATGACTTGAACAATGAGCTCTATTTTTCTTACAAGCTTGTTCCACCAGCTTGCAGAGATGCTCTGGAGTCATA
Task1_train_9908
The gene GRM6 (glutamate metabotropic receptor 6) on Chromosome 5 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; not provided
GAGAAACAAGAAGGAGAGAGGGAGAGAGAGAGAGAGAAACAACTGAGGAGACCGAGAGACGAGAAAGGCCCAGTGGCCACAGCTCAGTGAATAATGCTGTGGTCCTCCCAGCTCTCCTGGACACTTGAGTTTGGGAACAACCCTCCCATGCCCCCTGGACCTCCTGAGGGAAGTTAATTTAAAATGCCTGCCAGCACGGTCATGTGGCTGGGAAATGAATGTAGTTCTTTTAGACCAGGAATTGCAGCATCTTGCCTGTGGCTGTGTTTTGCACAGTTTTTATTAATGTTTGCATTTCTAGCCGGGCAGCACAACCTCAATCTGGGCTGAGCTGGCAGCAGCGGGCCCTGGGCTCACAGAGTCCTGCCCACCTGAGTCCCCAACTGGGCCCCTGAAGGCCTTGGGGTCTGGAATCTCTGCATTCGACCTAGAGGACAGAGACAGAAACTAGAGCTCTAGGCAGGGCCGGGGACACATACAGGTGGGTGAAAAACCCCTGGGCGGCCGCACAGCCTGTCTGGTGCCAGCGTGGAGATGTCACATCAACACTGCCAATCCGAGGAAACAGGGATGGGGGCTTTCATGTGCGCAGACGATAGGGAGCGGCCCCGCACGCCTGGAACAAACACAGACGCTGCGCCCGGGAGTCGGAGAAGCTCTCAGGAAACAGAAGTTCCTCTCCTAGGTAGATGGAAGCCAGGCCTTCCTCCTTCACAGAGAGCCGGATGCACACAGGCCCCTCCCGCCACAGAACCCCAGAAAAACTGTCCCACAACCCCCAGTGAATGACCAAATCGAAAACCCCCAAACTTGTATGCCAAAGCCCTCCTAATCCCGATTCTGCTGGCCCCTAGGACTGCAAGGAACACGCTGCCCCTCACGGGACAGTTCCCTACATTTGAGGACAGAGCAGGGCCAGCCCGGGCACCTGCGCAGGGCAGGGTGCAGGAGACCAGAGCTCAGAAGGGAACGCCCCGCCCTGCTCTCAGATGCCCCTTGAGGGAGAGTTCAAGGCATTTTGAAAATAAATTTAAATGATCAAAAAAGAGAAAGACCAGACCTTTCAGGCCTATCCATCCCCCATAGCAGCCCAGGGACACGCCCCAGTTGCTGCTCTGGAAGAAGGGCCCGGGTTCCAAACAAAACTCAAAGTTGCAATATCACTCGAGCGCTCCGCAGGCCCAGGGGGCAGGAGCACCTTGTATGGTTGCAGGGGTGTGCCCAGAACAAGGGCACCCGAGCAGGCTGGCAAATGGGGGCTGAAGTCAGGCCGCCCTCCCCAGCCAACCGGCCAGAGGCGTAGGTGGCACCCGCCCGGGAAGGGGCGCCCTCGCGGGGCGGGGTAGACATGGGCGGCTGGAGTGTTTGGGTGGAGCCGATTCAGGCCTGCGTCGGGCTCAACTGACAGGGCTTCTTTGACGCTGTGTGAATTCGAGTGATTAAAACGGAGACTCTTTCAGAAGAAGTAAAGGAAGGAGACTTGGGCCACCCCAGGGCGAGGACGGGAGAGGGACGCTGGACACCGAGCCCGGCCCCGCGGCCCTCACCGCAAACAGGCGCAGCACGTTGGCGACCATGATGGAGACGGAGCTGGCCGAGGCGCCCACGACGGCCACGACGCGCTCGGGGGGCGCGGGGCGCAGCGGAGGGACGCCTCCCGGGCAGCGCACGCCCACCTCGTCGCCGTCGCCGCGGCCGCGGATCAGCGCCTGCACGAAGCTCAGCGCCTGCTCCAGCGCGTAGGTGTCCCGCGAGCAGGTGTCCAGCAGCCGCGCGCCCAGGCGCACGCCGGGCAGCAGCTCGGGGTCGGCGTTGACGCGGTCCAGCGCGTACAGCATGGCCTCCAGCCGGTGCACGCCCTGCTCCTTCTTCAGCTGCCCGCACGCCCGGCCCGCCGCGCCCCGCGCGTGCACCGGGAACAGGCCGCCCAGCGTCAGGCCGCCCGCCAGGCGCACAGAGCCCGCCGCGCGCGCCAGGCCCGCCTGCGCCAGCCACGCCAGCGGCAGCAGCGCCACGAGCAGCGGCTCCCGGGCTCTCCGGGGCCGCGCCATCGGCTCGTCTAGCGGGCTGCGGGGAGACAGAGGGGCGGGGAGCGCTCTGAGGGCGGGGGAAGGAGAGCGCGGGCTCGGGGCGCGGGGAGGGACACCGGGGTCCTGGGGAGAAGGCGCTCGGGGCGCGCCTTCCACTTCGGCTCTGGGGAGTTAGCTCAGCCGGCCTGCCCGGGCCTCCGTCTCGCTCTTACAAGCGCCGAACCCTGTCGCCCGGGGTCCCGCCCGACCACTGCCTCCACCCCTCCAGCCCTGCCGCTTCCCGACAGCTTGGCCCCTCTTCCTCGGGGTCCATCCCCAGCGCACACCCAGGCTCCCGCCCCAAGCCAGTCACCTGCGCCAGCCGCTGTCGGTTCAGGACAAGTCTGTGACAGATGCGGCCGAGGCCCTGAGCGAGAGAGGATTTAAGGATTCTAGGGAGGGATGAGAGACCGCTCCGAGGGTGGAGACCCCTCCTGAGTGTGGGGGGTGGCGGTGCTGGCTCTCCCCGCATCTCCTTCCCCTCCCTCTCCCAATCTCTGGGTCTGTTTTCCTGTTTTCTTGTCTTTGGTTTGCGTCTGACTCAGACTGTCTGGCTGTCTCTGGGGCTGTGTCTGACACAATCTCTGTCCATCTCTATCTCAGTCTTCTTCTGCCTCTAGGTCTCTGTTTCTCAGTCTCTGTCCCTGGCTTTCTGCCTCTGTCCTCTTCTTGGAAATCTTTTCTGTCTCTGTCCCTTCCTGTCTCTCCCTGCGGTTATCTCTCTCTGTCCCTGACCCCTTTTCTGTCTCTCTGTCTCTGTCCTGGCCACCAGTGCTCCTGACTGCAGTTGCCTAAGGTATTCCCCAGCTTTCTCCTTGCAGAACCCTGCAGGGGGCAGGGGCTGCCTGAGCTGGGAGGGCCTAAGGAAGAGGAGGAAGAGCGAGGGGCAGGAAGGGGCCAGGAGGGAGAAGCCTTTAGTATTAGCGAACTTACAACACCCTGCAGTCGAGAAACAGCCCTCGAGGAGTGAGTTGAGTTGCCCAAGTGCATGCAGCTGGCATGTGTGGGCATCAGGATTCACACCCAGAATGGCATGAAACAAACAGCCCACACTGCCTTGGATGGAGGGAGGGGAGGGGCCGGCTTTCCTCGCAGCTCCCACTCCCGCCTATTGCTTGGGAGGATGGAACCCCGCGGGGTCGTTCTGGCTCCGTATAAAGTCTCCTCGGGCTCTGGGTCTGAGGCAGCCACTCGAGCTGCGGTGCTCACTGTGCCAACGCTCTCTGCACCTAACTCCCCATCTCATCGTGGAGGCCAAGGTGAGGGGGCTTGGCCAAAAGATGCTTTTATCATCCCCCCATCCGAGGCCCAGGATTTGGCTCTCTGATGCCAAGAGAGCAAAGGGCGTCCTGGAGACAGGTGGTGAGCTCCTAGCCACAGGGATTAGCAGGCTCCTCGTCCGAGGGCCTGAGCCGGCTTGGGCTCCATTAGACAGGCTGGATTAGGGTGGCTGCGGGGATTTGGACAAGGCTGGTAGAGGGAGCAAGCAAGAAACATGCCACCTTTCTCTCTTCCCCCGCCTCTCCCAGGCCCCGATAGTTTCTACTGCCAGAACCACTTCTCCTGGTGGAAGCCCAGAGTCAACAGGCTGGGCCTAGCCCTGCTCCTATCCATTTTAACAGTGGGAAGGGTGGGGAGCTTGGCTGGTGCCAGGCCCTGAGCCTGACATTGCGAAGGACTGCATAAACTGGGTTTGGGAGGTGGATGGGCCCTTCCCTGTTCAGGACGAGCCTGACAGCTCCCAGCACACAGCAGCCTCCTGCTTGGCATGACCAAGGCAGCCACTGCCCCTGTCTGGAGGACAGACCATCAGGAAGCGGGGGCAGCAGCTGGGGGACTGGCAGGGGGTCCTCGCCGTGTAGGAGGGAGGCATGCACACCTGTGAGCAGGGGGCTGGAGGAGAAGGGGAGGGGGGTGGCAGGATTTTAGACCTGATGGAGATTTGGCTCTTGGAGGGGTGGAGGATGGCATAGCTGCTGGGGCATTCCCTGAGAATATGAGGACCAGAGACACAGCTGAGCAGGTCA
GAGAAACAAGAAGGAGAGAGGGAGAGAGAGAGAGAGAAACAACTGAGGAGACCGAGAGACGAGAAAGGCCCAGTGGCCACAGCTCAGTGAATAATGCTGTGGTCCTCCCAGCTCTCCTGGACACTTGAGTTTGGGAACAACCCTCCCATGCCCCCTGGACCTCCTGAGGGAAGTTAATTTAAAATGCCTGCCAGCACGGTCATGTGGCTGGGAAATGAATGTAGTTCTTTTAGACCAGGAATTGCAGCATCTTGCCTGTGGCTGTGTTTTGCACAGTTTTTATTAATGTTTGCATTTCTAGCCGGGCAGCACAACCTCAATCTGGGCTGAGCTGGCAGCAGCGGGCCCTGGGCTCACAGAGTCCTGCCCACCTGAGTCCCCAACTGGGCCCCTGAAGGCCTTGGGGTCTGGAATCTCTGCATTCGACCTAGAGGACAGAGACAGAAACTAGAGCTCTAGGCAGGGCCGGGGACACATACAGGTGGGTGAAAAACCCCTGGGCGGCCGCACAGCCTGTCTGGTGCCAGCGTGGAGATGTCACATCAACACTGCCAATCCGAGGAAACAGGGATGGGGGCTTTCATGTGCGCAGACGATAGGGAGCGGCCCCGCACGCCTGGAACAAACACAGACGCTGCGCCCGGGAGTCGGAGAAGCTCTCAGGAAACAGAAGTTCCTCTCCTAGGTAGATGGAAGCCAGGCCTTCCTCCTTCACAGAGAGCCGGATGCACACAGGCCCCTCCCGCCACAGAACCCCAGAAAAACTGTCCCACAACCCCCAGTGAATGACCAAATCGAAAACCCCCAAACTTGTATGCCAAAGCCCTCCTAATCCCGATTCTGCTGGCCCCTAGGACTGCAAGGAACACGCTGCCCCTCACGGGACAGTTCCCTACATTTGAGGACAGAGCAGGGCCAGCCCGGGCACCTGCGCAGGGCAGGGTGCAGGAGACCAGAGCTCAGAAGGGAACGCCCCGCCCTGCTCTCAGATGCCCCTTGAGGGAGAGTTCAAGGCATTTTGAAAATAAATTTAAATGATCAAAAAAGAGAAAGACCAGACCTTTCAGGCCTATCCATCCCCCATAGCAGCCCAGGGACACGCCCCAGTTGCTGCTCTGGAAGAAGGGCCCGGGTTCCAAACAAAACTCAAAGTTGCAATATCACTCGAGCGCTCCGCAGGCCCAGGGGGCAGGAGCACCTTGTATGGTTGCAGGGGTGTGCCCAGAACAAGGGCACCCGAGCAGGCTGGCAAATGGGGGCTGAAGTCAGGCCGCCCTCCCCAGCCAACCGGCCAGAGGCGTAGGTGGCACCCGCCCGGGAAGGGGCGCCCTCGCGGGGCGGGGTAGACATGGGCGGCTGGAGTGTTTGGGTGGAGCCGATTCAGGCCTGCGTCGGGCTCAACTGACAGGGCTTCTTTGACGCTGTGTGAATTCGAGTGATTAAAACGGAGACTCTTTCAGAAGAAGTAAAGGAAGGAGACTTGGGCCACCCCAGGGCGAGGACGGGAGAGGGACGCTGGACACCGAGCCCGGCCCCGCGGCCCTCACCGCAAACAGGCGCAGCACGTTGGCGACCATGATGGAGACGGAGCTGGCCGAGGCGCCCACGACGGCCACGACGCGCTCGGGGGGCGCGGGGCGCAGCGGAGGGACGCCTCCCGGGCAGCGCACGCCCACCTCGTCGCCGTCGCCGCGGCCGCGGATCAGCGCCTGCACGAAGCTCAGCGCCTGCTCCAGCGCGTAGGTGTCCCGCGAGCAGGTGTCCAGCAGCCGCGCGCCCAGGCGCACGCCGGGCAGCAGCTCGGGGTCGGCGTTGACGCGGTCCAGCGCGTACAGCATGGCCTCCAGCCGGTGCACGCCCTGCTCCTTCTTCAGCTGCCCGCACGCCCGGCCCGCCGCGCCCCGCGCGTGCACCGGGAACAGGCCGCCCAGCGTCAGGCCGCCCGCCAGGCGCACAGAGCCCGCCGCGCGCGCCAGGCCCGCCTGCGCCAGCCACGCCAGCGGCAGCAGCGCCACGAGCAGCGGCTCCCGGGCTCTCCGGGGCCGCGCAATCGGCTCGTCTAGCGGGCTGCGGGGAGACAGAGGGGCGGGGAGCGCTCTGAGGGCGGGGGAAGGAGAGCGCGGGCTCGGGGCGCGGGGAGGGACACCGGGGTCCTGGGGAGAAGGCGCTCGGGGCGCGCCTTCCACTTCGGCTCTGGGGAGTTAGCTCAGCCGGCCTGCCCGGGCCTCCGTCTCGCTCTTACAAGCGCCGAACCCTGTCGCCCGGGGTCCCGCCCGACCACTGCCTCCACCCCTCCAGCCCTGCCGCTTCCCGACAGCTTGGCCCCTCTTCCTCGGGGTCCATCCCCAGCGCACACCCAGGCTCCCGCCCCAAGCCAGTCACCTGCGCCAGCCGCTGTCGGTTCAGGACAAGTCTGTGACAGATGCGGCCGAGGCCCTGAGCGAGAGAGGATTTAAGGATTCTAGGGAGGGATGAGAGACCGCTCCGAGGGTGGAGACCCCTCCTGAGTGTGGGGGGTGGCGGTGCTGGCTCTCCCCGCATCTCCTTCCCCTCCCTCTCCCAATCTCTGGGTCTGTTTTCCTGTTTTCTTGTCTTTGGTTTGCGTCTGACTCAGACTGTCTGGCTGTCTCTGGGGCTGTGTCTGACACAATCTCTGTCCATCTCTATCTCAGTCTTCTTCTGCCTCTAGGTCTCTGTTTCTCAGTCTCTGTCCCTGGCTTTCTGCCTCTGTCCTCTTCTTGGAAATCTTTTCTGTCTCTGTCCCTTCCTGTCTCTCCCTGCGGTTATCTCTCTCTGTCCCTGACCCCTTTTCTGTCTCTCTGTCTCTGTCCTGGCCACCAGTGCTCCTGACTGCAGTTGCCTAAGGTATTCCCCAGCTTTCTCCTTGCAGAACCCTGCAGGGGGCAGGGGCTGCCTGAGCTGGGAGGGCCTAAGGAAGAGGAGGAAGAGCGAGGGGCAGGAAGGGGCCAGGAGGGAGAAGCCTTTAGTATTAGCGAACTTACAACACCCTGCAGTCGAGAAACAGCCCTCGAGGAGTGAGTTGAGTTGCCCAAGTGCATGCAGCTGGCATGTGTGGGCATCAGGATTCACACCCAGAATGGCATGAAACAAACAGCCCACACTGCCTTGGATGGAGGGAGGGGAGGGGCCGGCTTTCCTCGCAGCTCCCACTCCCGCCTATTGCTTGGGAGGATGGAACCCCGCGGGGTCGTTCTGGCTCCGTATAAAGTCTCCTCGGGCTCTGGGTCTGAGGCAGCCACTCGAGCTGCGGTGCTCACTGTGCCAACGCTCTCTGCACCTAACTCCCCATCTCATCGTGGAGGCCAAGGTGAGGGGGCTTGGCCAAAAGATGCTTTTATCATCCCCCCATCCGAGGCCCAGGATTTGGCTCTCTGATGCCAAGAGAGCAAAGGGCGTCCTGGAGACAGGTGGTGAGCTCCTAGCCACAGGGATTAGCAGGCTCCTCGTCCGAGGGCCTGAGCCGGCTTGGGCTCCATTAGACAGGCTGGATTAGGGTGGCTGCGGGGATTTGGACAAGGCTGGTAGAGGGAGCAAGCAAGAAACATGCCACCTTTCTCTCTTCCCCCGCCTCTCCCAGGCCCCGATAGTTTCTACTGCCAGAACCACTTCTCCTGGTGGAAGCCCAGAGTCAACAGGCTGGGCCTAGCCCTGCTCCTATCCATTTTAACAGTGGGAAGGGTGGGGAGCTTGGCTGGTGCCAGGCCCTGAGCCTGACATTGCGAAGGACTGCATAAACTGGGTTTGGGAGGTGGATGGGCCCTTCCCTGTTCAGGACGAGCCTGACAGCTCCCAGCACACAGCAGCCTCCTGCTTGGCATGACCAAGGCAGCCACTGCCCCTGTCTGGAGGACAGACCATCAGGAAGCGGGGGCAGCAGCTGGGGGACTGGCAGGGGGTCCTCGCCGTGTAGGAGGGAGGCATGCACACCTGTGAGCAGGGGGCTGGAGGAGAAGGGGAGGGGGGTGGCAGGATTTTAGACCTGATGGAGATTTGGCTCTTGGAGGGGTGGAGGATGGCATAGCTGCTGGGGCATTCCCTGAGAATATGAGGACCAGAGACACAGCTGAGCAGGTCA
Task1_train_9909
A sequence alteration has been identified in HNRNPH1, LOC128966623 (heterogeneous nuclear ribonucleoprotein H1| uncharacterized LOC128966623) on Chromosome 5. Is it disease-inducing or harmless?
Pathogenic; Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects
GGCCCCCGTAGCTGGACTGGTTTGCTGTTAAGTTAAGAAAACATTAGAACCTTTTTTCTTATGTGATGTGGTACCTGGTGGTACCGGGCTTGTAATTCTATAGCTATCATTTTCCAGTCTTGATCTTACATTACTGTAACCCTCTGCCTCCTTCTGCCTACTGTCTATAACCAGGCCACCCTTCTATCCATCATTTGAGCCAGTCAAATATTGATAAACCAAAGTGCTAACGGTACACACATCAGCAGGACTAAAATCAACATGATTCCGTAAGTAGAGGCATTTTGTGAAGATCTTATGAAACTGCTTGACTGGATTTAGTGGGTTCCCCCTCAGTTTGATACATCAAAGGCATGTCAATACACCTAATTATGCCCACATTTATCTTAATCCTGTTTTGCTATTGATTTAAACTTTATACTTAGAAAATTTAAGTAGTTTCACTCCGTAGTCCCCTCCCCCAAGACTACTTAAACCTAATTTGAATTATCTATCCTAAGGAACTTCATAACTCACAAGGATTTAAGTAAGCCAGATACAAAACTCAAATATCAAGAAACTGCTTTGCCTAAGTTTCTTATGCTAAACTTATTAAATAAATAGATTAACTTAACTTATAATTGACTTATACAGATATAAACGTTTTGGTTTTTAAAAAAACTAACGATATTTACACAAGCCCATGCCTCCCATCATTTGGCTACCATAAGCACCACCGCTTGCTCCTGCTGTAGAATTCAAGAAGAGTTCTACATATCTGTGTTCTGAAATGAGAGAAAAGGCATACAAGGTTAGCTTAAAAAAAAGACACTAAAGTGATATTTACACAAACCCATGCCTCCTAGCATTTGGCTACCGTAAGCACCACCGCTTGCTCCTGCTGTAGAATTCAAGAAGAGTTCTACATATCTGTGTTCTGAAATGAGAAAAAAAAAGTTTGAAAATGTTTGTTGGTGAAACAAAACAGAATAAGCACTTTTATAAAGTTTTTAAACAAGCAGATCTGTGAACTTCAAATACTTTGGCAAAGAAATTCTAGCTACTTCTCTTAGGTGATCTACTTTAACTCCAAAATCTAGCCTTTACATATTCATCTGTATTGTCAATTAAGGATATACACTTCAAGATGTGCATATCACAAATCCGTTATACTAATTTTTAAAACCCAAACCTTCAACACACTGCCCCCGCATCCCCCAAGAATTAATCTATTACTGGAGAGGAAACTTCTCATATATCCTTATTTTTCCATTTCTCTATTGTAAATGTTAGTCACACAATCACCTGTTAAGAGCCCACAAATGCTCAATCACACTTACGCATATTTGCTTTGTCTTTTGACATAGCTGCCACAGCATCTTCATGAGTTGCGAACTCGACATCTGCTTCACCAGTTACTCTGCCATCAGGACCAATTTCAATGTGTACTCTCACAGGGTTGAGCGGTGAAAAAAACTACAACACAAGGCATTTCAAAGAATTCAACCAACTTTCTAACGTTACAAAAAAAACCTAAAATTTCTAACATAGTGCTCACATTTATAGAATAAGGCTGACTTACTGCCATACTGAAATATTGACTTGTGAGTTCATCTCACACTTACATTATAAATGTCATTCTCAGTAGCTCTGTAAGGTAATCCCCGCATGTGTACACAGTGTCCTGTTGTGCTCTGGAAAGTAGAGCCACCATCCCCGTATCTGTGATCAGACATTCCTGAAAAACAGTAATTGAGGTCTAGATGGACAAGAGTGTAAGCATCCTTCAACTGAGAAATTCAATTCTTACCTTACCTCTTCCAAATCTATCTGACCCAAATCCATAGCCATCATTATAGCCATTGTAATCATCATAGCCTCCATAGCCTGAAAGACAAAGTACAATCAATCAAATAAAACACCTAGACAAAGGAACAGACGACTTGCCGAACCTTACGAATCCTCACGTACCTCCACCATAAGCACCACGCCTCATCCTCTCAAAGCCAGCTCCTCTGCCAATGCTGTTATACCCTCTACCAGCCCCAGGTCTGTCATAAGGACCTGGCCGCTGCATGGCCATAAGCTTTCGTGGTGGATCATAATGAGTTCTAACTTCAGCTCTACTGCTCTTAAAGATTTCAATATACCTAAAGCATTGTTCATAAGGAAGGGGTAGGGAGGGGAGAGAAAACATTAGTTCATTTTATACAGGTATTTAGTTATACAAGAAAACAATCTAGTCATAGCCATGAAACTGACTAATATTTAAAGCCAGATTTCTTATATTTGCATAGGCAATGACCAGAAATTCACTCAATAAATAGTAAGACAATGTAAACTTTATAGAAAAAAAAAAAAAACTCACTCCTCTGAGGCAGAGCCCAACCTTAGGGGTAGAGAGGAGTACTGTAAATAAATGTTTTAGGAGGGAAATAATTCCACTCAACTTTCAACATTTCAAGTCTTAAATCCATTGGCAGCATGTATAGCAAGTGGGCTAAAAAGCCAGCCTCCACCAACAGTCCAGCCCACACTACACATTTCCTTTCGCCAATAAATACCCCAGCCTATGCTTTTAGTAAGAATCAGCATAGGTAAGCGCATGCTTCAATGAAAAATAGTCACAAGCAAAGAGAATAAAACCTTTTGTGACAATTTCTTGAAAGCTATGCTTATTAATACTATGCAGAATATTTATATACAGCAAGAAAAAGTTTGTTGCATTTCAACTTTAAAAACAAGATCAGAAAGTATCACATTTTCTTATGGTAATATTAATTTATTCTAGGTGGGTGTTATTACAGCTAAAGCCAGGTTTGCATTAATTTTTTAAAGCCATAGTCTCTCAACTCTATTGATTGGGGTTAATAAGACTCACAAAATTGTCAAGCAGACCAATTAACTAGGGACAAATTTCAAACCTAAAATTTAGTTTGCGTGTAACGTGGGACTGACACAAGTTTGGAAATCATGGCAAAACATCAATTACCTAGGACTACAAAACATTAATTTCTTCTTTTAAGCAGAGAGAATATGGATTTAATTGTTTACCATAAGAAAAGTGACATATCCAACCAACCATCCATCCCCACCTGTGCCCTATTCTTTCCTTGTGTTTCTTTAGAGCCTTTTCAGCTATTTCCTGTGAAGCAAACTGCACGAAGGCCTCCCCCGTACTCCTCCCCTGGAAGTCCACCGGCAATGTTATCCCATTTGGCACGATTTCCAACCCTTCAACCCAAGGACAAATAACCCCAGTAGGGGGGCAATATTAACATCACAAGCCCAGAAATGATTCTTCTTATAGCTTTAAATAAACCAGAATTTTTAACTTTAGGTGAATGGTATGCTTTCAACAAGTACTCTTTAAATATGCATTGCAATAATATGAAGTTCCATTATTATAAAGTATAACTATTCTTAACACACCCATGGTACAGTATATATTAAAAAAAACTTGCTGAACACAGGATGCATTAAGAATTCAACAACTTAAGAACACATATCTATGCAACTTAATGTTGAGAATTATACAATTCAATTAAGTTTTAAGCATTAAATAACAGTTTTACTAAATTCAAAACACCTTTTACCTCATTTTATATTTCAATGCTTTAAGTTATTGGAACTTCAAGTTTTTAAAAAGGTATACATTTACAACATTTCATATAAAAACTGAAACATTAAATTATAATTGACAAACACAACAATCTAAACTTTCAACAAAACTGATCTACACAGCACAATCATGCATGCTTATGCTCTAACAGTAGTTATGATTCACTTCTGGAAATTCCGTCTATGAAAAATCCTTTCCGTGGATACATTCCCAAGCTTACAAAAAGGACTTAAAGCACTTTCCTAGAAGATATGAAATTATGTTCATATTTAACGTTGACAGCATTCAATTCTCACCAATTTAGTGTCAAAACAAAACAGACTTGATTTTAAAAATTCTGACATTAGGACTCGATACATATATCAATTTTTAACATACTACACTAAACCATGAAAGGATTTCCTGCTTCCAGCGTATCACATCATAAATATTAATACTTAAAATATACGATATCTTATCTAACATTGTTAAACATGCAATCTTATCAGCTCTTCA
GGCCCCCGTAGCTGGACTGGTTTGCTGTTAAGTTAAGAAAACATTAGAACCTTTTTTCTTATGTGATGTGGTACCTGGTGGTACCGGGCTTGTAATTCTATAGCTATCATTTTCCAGTCTTGATCTTACATTACTGTAACCCTCTGCCTCCTTCTGCCTACTGTCTATAACCAGGCCACCCTTCTATCCATCATTTGAGCCAGTCAAATATTGATAAACCAAAGTGCTAACGGTACACACATCAGCAGGACTAAAATCAACATGATTCCGTAAGTAGAGGCATTTTGTGAAGATCTTATGAAACTGCTTGACTGGATTTAGTGGGTTCCCCCTCAGTTTGATACATCAAAGGCATGTCAATACACCTAATTATGCCCACATTTATCTTAATCCTGTTTTGCTATTGATTTAAACTTTATACTTAGAAAATTTAAGTAGTTTCACTCCGTAGTCCCCTCCCCCAAGACTACTTAAACCTAATTTGAATTATCTATCCTAAGGAACTTCATAACTCACAAGGATTTAAGTAAGCCAGATACAAAACTCAAATATCAAGAAACTGCTTTGCCTAAGTTTCTTATGCTAAACTTATTAAATAAATAGATTAACTTAACTTATAATTGACTTATACAGATATAAACGTTTTGGTTTTTAAAAAAACTAACGATATTTACACAAGCCCATGCCTCCCATCATTTGGCTACCATAAGCACCACCGCTTGCTCCTGCTGTAGAATTCAAGAAGAGTTCTACATATCTGTGTTCTGAAATGAGAGAAAAGGCATACAAGGTTAGCTTAAAAAAAAGACACTAAAGTGATATTTACACAAACCCATGCCTCCTAGCATTTGGCTACCGTAAGCACCACCGCTTGCTCCTGCTGTAGAATTCAAGAAGAGTTCTACATATCTGTGTTCTGAAATGAGAAAAAAAAAGTTTGAAAATGTTTGTTGGTGAAACAAAACAGAATAAGCACTTTTATAAAGTTTTTAAACAAGCAGATCTGTGAACTTCAAATACTTTGGCAAAGAAATTCTAGCTACTTCTCTTAGGTGATCTACTTTAACTCCAAAATCTAGCCTTTACATATTCATCTGTATTGTCAATTAAGGATATACACTTCAAGATGTGCATATCACAAATCCGTTATACTAATTTTTAAAACCCAAACCTTCAACACACTGCCCCCGCATCCCCCAAGAATTAATCTATTACTGGAGAGGAAACTTCTCATATATCCTTATTTTTCCATTTCTCTATTGTAAATGTTAGTCACACAATCACCTGTTAAGAGCCCACAAATGCTCAATCACACTTACGCATATTTGCTTTGTCTTTTGACATAGCTGCCACAGCATCTTCATGAGTTGCGAACTCGACATCTGCTTCACCAGTTACTCTGCCATCAGGACCAATTTCAATGTGTACTCTCACAGGGTTGAGCGGTGAAAAAAACTACAACACAAGGCATTTCAAAGAATTCAACCAACTTTCTAACGTTACAAAAAAAACCTAAAATTTCTAACATAGTGCTCACATTTATAGAATAAGGCTGACTTACTGCCATACTGAAATATTGACTTGTGAGTTCATCTCACACTTACATTATAAATGTCATTCTCAGTAGCTCTGTAAGGTAATCCCCGCATGTGTACACAGTGTCCTGTTGTGCTCTGGAAAGTAGAGCCACCATCCCCGTATCTGTGATCAGACATTCCTGAAAAACAGTAATTGAGGTCTAGATGGACAAGAGTGTAAGCATCCTTCAACTGAGAAATTCAATTCTTACCTTACCTCTTCCAAATCTATCTGACCCAAATCCATAGCCATCATTATAGCCATTGTAATCATCATAGCCTCCATAGCCTGAAAGACAAAGTACAATCAATCAAATAAAACACCTAGACAAAGGAACAGACGACTTGCCGAACCTTACGAATCCTCACGTACCTCCACCATAAGCACCACGCCTCATCCTCTCAAAGCCAGCTCCTCTGCCAATGCTGTTATACCCTCTACCAGCCCCAGGTCTGTCATAAGGACCTGGCTGCTGCATGGCCATAAGCTTTCGTGGTGGATCATAATGAGTTCTAACTTCAGCTCTACTGCTCTTAAAGATTTCAATATACCTAAAGCATTGTTCATAAGGAAGGGGTAGGGAGGGGAGAGAAAACATTAGTTCATTTTATACAGGTATTTAGTTATACAAGAAAACAATCTAGTCATAGCCATGAAACTGACTAATATTTAAAGCCAGATTTCTTATATTTGCATAGGCAATGACCAGAAATTCACTCAATAAATAGTAAGACAATGTAAACTTTATAGAAAAAAAAAAAAAACTCACTCCTCTGAGGCAGAGCCCAACCTTAGGGGTAGAGAGGAGTACTGTAAATAAATGTTTTAGGAGGGAAATAATTCCACTCAACTTTCAACATTTCAAGTCTTAAATCCATTGGCAGCATGTATAGCAAGTGGGCTAAAAAGCCAGCCTCCACCAACAGTCCAGCCCACACTACACATTTCCTTTCGCCAATAAATACCCCAGCCTATGCTTTTAGTAAGAATCAGCATAGGTAAGCGCATGCTTCAATGAAAAATAGTCACAAGCAAAGAGAATAAAACCTTTTGTGACAATTTCTTGAAAGCTATGCTTATTAATACTATGCAGAATATTTATATACAGCAAGAAAAAGTTTGTTGCATTTCAACTTTAAAAACAAGATCAGAAAGTATCACATTTTCTTATGGTAATATTAATTTATTCTAGGTGGGTGTTATTACAGCTAAAGCCAGGTTTGCATTAATTTTTTAAAGCCATAGTCTCTCAACTCTATTGATTGGGGTTAATAAGACTCACAAAATTGTCAAGCAGACCAATTAACTAGGGACAAATTTCAAACCTAAAATTTAGTTTGCGTGTAACGTGGGACTGACACAAGTTTGGAAATCATGGCAAAACATCAATTACCTAGGACTACAAAACATTAATTTCTTCTTTTAAGCAGAGAGAATATGGATTTAATTGTTTACCATAAGAAAAGTGACATATCCAACCAACCATCCATCCCCACCTGTGCCCTATTCTTTCCTTGTGTTTCTTTAGAGCCTTTTCAGCTATTTCCTGTGAAGCAAACTGCACGAAGGCCTCCCCCGTACTCCTCCCCTGGAAGTCCACCGGCAATGTTATCCCATTTGGCACGATTTCCAACCCTTCAACCCAAGGACAAATAACCCCAGTAGGGGGGCAATATTAACATCACAAGCCCAGAAATGATTCTTCTTATAGCTTTAAATAAACCAGAATTTTTAACTTTAGGTGAATGGTATGCTTTCAACAAGTACTCTTTAAATATGCATTGCAATAATATGAAGTTCCATTATTATAAAGTATAACTATTCTTAACACACCCATGGTACAGTATATATTAAAAAAAACTTGCTGAACACAGGATGCATTAAGAATTCAACAACTTAAGAACACATATCTATGCAACTTAATGTTGAGAATTATACAATTCAATTAAGTTTTAAGCATTAAATAACAGTTTTACTAAATTCAAAACACCTTTTACCTCATTTTATATTTCAATGCTTTAAGTTATTGGAACTTCAAGTTTTTAAAAAGGTATACATTTACAACATTTCATATAAAAACTGAAACATTAAATTATAATTGACAAACACAACAATCTAAACTTTCAACAAAACTGATCTACACAGCACAATCATGCATGCTTATGCTCTAACAGTAGTTATGATTCACTTCTGGAAATTCCGTCTATGAAAAATCCTTTCCGTGGATACATTCCCAAGCTTACAAAAAGGACTTAAAGCACTTTCCTAGAAGATATGAAATTATGTTCATATTTAACGTTGACAGCATTCAATTCTCACCAATTTAGTGTCAAAACAAAACAGACTTGATTTTAAAAATTCTGACATTAGGACTCGATACATATATCAATTTTTAACATACTACACTAAACCATGAAAGGATTTCCTGCTTCCAGCGTATCACATCATAAATATTAATACTTAAAATATACGATATCTTATCTAACATTGTTAAACATGCAATCTTATCAGCTCTTCA
Task1_train_9910
This variant lies on Chromosome 5 and affects the gene SQSTM1 (sequestosome 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
GAGCCTGCGGGGTGGGACTGCATCGGGAAAGGGGAAGGAGTCAGAGGCGAGAAGGGGGAGAGTGTCTGTCTGGCTCCAGCCGCTGCACGCTCTTCCTGCTCAGGGGACTCACGGTGACCCCGGAGCCACTCCCCAGCCCAGCCTCCAGGTAAGAGGTCACTGAGATGGGTGGCAGCAGGGGCCGGGGATCCCCCTATTACGACAGCGGTCATGGGACGCTGACTCACTGCCGGCCAGACCACCTGACCTCCGCGGCGGGAGGAGAGGGCCCTGCCAGGGGGTTCCCGCCGCGCCTTGTTTACCTCCGGGAGGCCTCGGCCTCGCGTGGGGGCAGGGCGGCCGCTGGGGCCGCAAGGCGTGCGGGGAAGGGCCAGAGCCGGGTGTCCACCCCAGCTTCCCAAAGACTCCCTCTTCTGTGCTTCCTTCTCCCCTCCCCGCCCCCCCCCCAGTCTCTTCACATGCCCCTAGCCCCCGCGGAAACTTCCCGCGATCCCAAACGGGCCAAATGGCGAGAAAGCAAAGGAGCTCCTTCTTGGGGGTGAGTGGGGCGCCTTGAGCGCTTCCTCAAAGCTATGTTCCCAGAGCCACAGGCCTTCCTTGTGTCCCTCACCCTGCTCAGACCGGGCCATAGCCGGGGGCTGGGGCAGGAAAGCCGGCCCTCGGCGGGGGCCACGTGGCTCTCAGGCGCCTGGGCTGCTGAGTCACGCTTGGCCAGCACCTGTCTGTAGGCCACAGCCTCTGCCAGCACGCCCCTCTGTGTCCCCTGCCCCTGTCTGCAAGGCAGTGGCTCCAGCAGGCCCTGGGGCATTTTCCACTCTCCACCGCCGGATGCAGGGAGAGGCCTGAACCCTCTCCACAGGGCTGCTCTGGGCAGGGTGGAAGCCTTGCCCACTTCGGAGCCCTCCGGGAAGGATCATTCACACCTGTGGACCAGCCCCTGCTGTGCGCACACCCACACATCACCTTCGCACCTGACTGGCCCCATCCAGCCACTCTTGCCTCCCTCTGGGTTTCCTCCCCTGGGAGGTTTCTCCAGCTCCTGCAAGCCCTGGGCTGAAATGGCATGAGTTGGACCCAGCAGGTTCTGACCTCCTACTCACAGGACCTTGCCTGGGAGGCTCCAGAGGGTGACCACTCGTCCTGCCCCTCTCCTTGCCCCAGTTCTGGCGGACAGGTTACTCTGGTGGCATAAAGCAGTGTTTCTTCCTTCCTAGCTGAGGAGGCTGTTGGCTGACCCCCTTGGCTGCCCACAAGGCCAACGGGCCTGAGCCCCCACAGGGCCATGGGCATTACCTGCTGAATTGAGGAGCCCATAAGGAGTCACTTGGACCACAGTGAACACTTGGCGACCACTGACACTCAGGAGACCTTAGCTGGTCCTCCAGCACCTCTCAACTCCACTCCTACTAAACTGGGAACTTCTCTGGTGCTCAGGCCAGAGTCGGGGTCCGTCACCGAGTATGCTATGCGCTGCCCATCACCGAGGATGCCATGCGCTGTAAGAGGGCTGCCACCGCGGCAGGCTGACCATGGCAGGGTCGGAACAGCAACCTGAGAGCCAGCTTGTTCTGGCCAGCAGTGCCCACTGGGCGACCTAGCAGCCTCCTGATATGGGGGCTGTGTCCCCCTCTCCCTGCACTGGGTACCCCCAACTGAGGATATTGCTGAGTCATGGCCAGGCCCAAGCCTGGGAGGGGCGAGGGGCTGGACCCCCGCCAGTACCCTGATCCCAGGTGCAGAGGCTGGAGCCCAGGCCTGTATGAGTGCCAGGGCCGGTTTCCTGGGGTCCTTGGTGCACCGGGGCAATGAAGAGAGGGGTCAGCAATGAGGGGGCCGGGAGACCTGGAGCGAGGGGTAGCGGGGAAGGGGAGAGTAGTGAAGGGGCCTCTGCAGGGCGGCTCTCGCGCCGCGACGACGGTGGCGGGGGCGGGGAGGGCGCGAGAGACTCCGCCCCTCTCGAGGCGGGGCGGGGCCTCCGCGTTCGCTACAAAAGCCGCGCGGCGGCTGCGACCGGGACGGCCCGTTTTCCGCCAGCTCGCCGCTCGCTATGGCGTCGCTCACCGTGAAGGCCTACCTTCTGGGCAAGGAGGACGCGGCGCGCGAGATTCGCCGCTTCAGCTTCTGCTGCAGCCCCGAGCCTGAGGCGGAAGCCGAGGCTGCGGCGGGTCCGGGACCCTGCGAGCGGCTGCTGAGCCGGGTGGCCGCCCTGTTCCCCGCGCTGCGGCCTGGCGGCTTCCAGGCGCACTACCGCGGTGAGCGGGCCGGGGAGCGGCGGGGGCGGTGACGCAGGCCGGACACGGCCTCCTGCCGCGGGGTGGCTGCCCCCTCCCTTCTCGGCGACGCCTGGCGGGCCGTGAGGGGGTCTGCGCTGGCTGCTCCCTGGATGGCGGTGGCCTGCATGGGTCCCCAGTTCGGCCATGGGAGCCGGCCTGGTGACTGGAGTGGTGACCAAGGCCGGGACCCGCTGCTCAGCGTCGGCCCCCTGGGGCGGTGGAGCCCTGCCGGCCGGGGGCTCGAGCCTGGGGGCGTCAGACGCCCCGCTCCACCCCCCGCGCTGTTGGGGATTTTGGCAAGGACGCGCCGGGGCGAACGCTCTGGCTCTCCGCGGGCACTGGGTGGTCAGGCGGGCACTCGGGTTACACTGACACCTTGCTGCGCCAGGTGGTGGGTTCAGATAATGCCCTGGAGGAGCCGGGCGAGCGCCGGCGAGGGGAGGGAGTGACGCGGGTAAACAAGCGCGGGGGTGCGGGGGACTCGCGAGCGCCGCGACAGCGCCTGGGAGAAGGGCACGGATCGCCGGCGGAACGCTCCGAGCCAGGTCGAGTACAGATGTTTTCCCATTGGCAAGTGGACGAGAACGTTCTTCAGAAGTGTTGGTGTTGGCACAGAAGCCCTGTTTCCTGCTGCGCTGGTGTGACCAGTGGCTGCTGGGGGTGGGGTTAGGGAGGTGGTTGTGGCCAGGAGGGCGGGAGGTGGCCAAGGCCGGCCCCTGGGAGGGTGCAGTGCTAGGACCTCCCTCTGGAGCGCTGCCAGCATACCAGGCCCTCTCCTATTCTTAAAAAAAAAAAAATTGTGATGTTATTGAGCTGTAACTGAAATAAGGGTTCACCCATTTAGTGTACAAGTCAGTGGTTTTCACTATTTTCATAGGTTTGTGGACCATATTCAGTGTGAGAGCTTTTCATCACCTTATAAACGCCATACATACCTTTTATCACCCTCTTATCCACATGCCCCCAGCAACCTCCTTTCTGTATCTATTCATCTTGCAATCCTGGACATTTCATGTAAATAGAATCAGACAATGTAGTCTTGCAAGTGGTTTCTTTCACTTAGTGTAATGTGTTCAGTGTTGTGGCACATATCAGAACTAGTTTTTTTTGGAGGAATAATATTCTGTTGTGTGGACAGGCCATGTTTTGTTTACCTGTTCATTAGTTGACAGACATTTGGGTTGTTTGCATCTTTGGGTGCCTCACCTGTGCCCTCGGTGGATGGCGTGGTTTGGTCTGCACAGCTGTGCTTTAAAGCCATTTCAGCTCATATGTATCTGTCACAAATGGAGACTACATACAAATACGTGTCTTTCAGCTTTGTTAGGGAAGGAAGCAGGCAGATGCCCTTGTCTTCTCCTTTACTCCCAAGCCACTAGAAGTCTAAGGCCTTTGTGGGGCTGGGCCCCTCAGGAGCAGGTCACAGGCAGGGATCTCCCACAGTTGAAGACGGACATGGGCCTGGTCGGATGGGGAATGAGGTGGCACGTTTCTGAAAAGGCAGCTGGCCCAAGGCTAAATAAGTGCAGCAGCCAAAGCTGCTGCCCCTGTGCACAGGCCCTCCGCCCCCTGCATGTGGCTGTGGTCCAGGGCCCAGGTCGGAGCACTCACCTTCCAGGAGGTGCCAGAGCAAGGGGGTAGTCTTGCCTCTCACTCCTGCCCTCTGTGGCTCAAGTAGGTGTGTTTGTTTATAGCCCTGTGAGTGTCCCTTTCATACTTGCCTCAGCCCATTCCAGCAGCTTATGTCCAGCTGAGAACCCCTGGGTGCTCACGTGCTGTCTTTTAAACAATCTAGATGAGGACGGGGACTTGGTTGCCTTTTC
GAGCCTGCGGGGTGGGACTGCATCGGGAAAGGGGAAGGAGTCAGAGGCGAGAAGGGGGAGAGTGTCTGTCTGGCTCCAGCCGCTGCACGCTCTTCCTGCTCAGGGGACTCACGGTGACCCCGGAGCCACTCCCCAGCCCAGCCTCCAGGTAAGAGGTCACTGAGATGGGTGGCAGCAGGGGCCGGGGATCCCCCTATTACGACAGCGGTCATGGGACGCTGACTCACTGCCGGCCAGACCACCTGACCTCCGCGGCGGGAGGAGAGGGCCCTGCCAGGGGGTTCCCGCCGCGCCTTGTTTACCTCCGGGAGGCCTCGGCCTCGCGTGGGGGCAGGGCGGCCGCTGGGGCCGCAAGGCGTGCGGGGAAGGGCCAGAGCCGGGTGTCCACCCCAGCTTCCCAAAGACTCCCTCTTCTGTGCTTCCTTCTCCCCTCCCCGCCCCCCCCCCAGTCTCTTCACATGCCCCTAGCCCCCGCGGAAACTTCCCGCGATCCCAAACGGGCCAAATGGCGAGAAAGCAAAGGAGCTCCTTCTTGGGGGTGAGTGGGGCGCCTTGAGCGCTTCCTCAAAGCTATGTTCCCAGAGCCACAGGCCTTCCTTGTGTCCCTCACCCTGCTCAGACCGGGCCATAGCCGGGGGCTGGGGCAGGAAAGCCGGCCCTCGGCGGGGGCCACGTGGCTCTCAGGCGCCTGGGCTGCTGAGTCACGCTTGGCCAGCACCTGTCTGTAGGCCACAGCCTCTGCCAGCACGCCCCTCTGTGTCCCCTGCCCCTGTCTGCAAGGCAGTGGCTCCAGCAGGCCCTGGGGCATTTTCCACTCTCCACCGCCGGATGCAGGGAGAGGCCTGAACCCTCTCCACAGGGCTGCTCTGGGCAGGGTGGAAGCCTTGCCCACTTCGGAGCCCTCCGGGAAGGATCATTCACACCTGTGGACCAGCCCCTGCTGTGCGCACACCCACACATCACCTTCGCACCTGACTGGCCCCATCCAGCCACTCTTGCCTCCCTCTGGGTTTCCTCCCCTGGGAGGTTTCTCCAGCTCCTGCAAGCCCTGGGCTGAAATGGCATGAGTTGGACCCAGCAGGTTCTGACCTCCTACTCACAGGACCTTGCCTGGGAGGCTCCAGAGGGTGACCACTCGTCCTGCCCCTCTCCTTGCCCCAGTTCTGGCGGACAGGTTACTCTGGTGGCATAAAGCAGTGTTTCTTCCTTCCTAGCTGAGGAGGCTGTTGGCTGACCCCCTTGGCTGCCCACAAGGCCAACGGGCCTGAGCCCCCACAGGGCCATGGGCATTACCTGCTGAATTGAGGAGCCCATAAGGAGTCACTTGGACCACAGTGAACACTTGGCGACCACTGACACTCAGGAGACCTTAGCTGGTCCTCCAGCACCTCTCAACTCCACTCCTACTAAACTGGGAACTTCTCTGGTGCTCAGGCCAGAGTCGGGGTCCGTCACCGAGTATGCTATGCGCTGCCCATCACCGAGGATGCCATGCGCTGTAAGAGGGCTGCCACCGCGGCAGGCTGACCATGGCAGGGTCGGAACAGCAACCTGAGAGCCAGCTTGTTCTGGCCAGCAGTGCCCACTGGGCGACCTAGCAGCCTCCTGATATGGGGGCTGTGTCCCCCTCTCCCTGCACTGGGTACCCCCAACTGAGGATATTGCTGAGTCATGGCCAGGCCCAAGCCTGGGAGGGGCGAGGGGCTGGACCCCCGCCAGTACCCTGATCCCAGGTGCAGAGGCTGGAGCCCAGGCCTGTATGAGTGCCAGGGCCGGTTTCCTGGGGTCCTTGGTGCACCGGGGCAATGAAGAGAGGGGTCAGCAATGAGGGGGCCGGGAGACCTGGAGCGAGGGGTAGCGGGGAAGGGGAGAGTAGTGAAGGGGCCTCTGCAGGGCGGCTCTCGCGCCGCGACGACGGTGGCGGGGGCGGGGAGGGCGCGAGAGACTCCGCCCCTCTCGAGGCGGGGCGGGGCCTCCGCGTTCGCTACAAAAGCCGCGCGGCGGCTGCGACCGGGACGGCCCGTTTTCCGCCAGCTCGCCGCTCGCTAAGGCGTCGCTCACCGTGAAGGCCTACCTTCTGGGCAAGGAGGACGCGGCGCGCGAGATTCGCCGCTTCAGCTTCTGCTGCAGCCCCGAGCCTGAGGCGGAAGCCGAGGCTGCGGCGGGTCCGGGACCCTGCGAGCGGCTGCTGAGCCGGGTGGCCGCCCTGTTCCCCGCGCTGCGGCCTGGCGGCTTCCAGGCGCACTACCGCGGTGAGCGGGCCGGGGAGCGGCGGGGGCGGTGACGCAGGCCGGACACGGCCTCCTGCCGCGGGGTGGCTGCCCCCTCCCTTCTCGGCGACGCCTGGCGGGCCGTGAGGGGGTCTGCGCTGGCTGCTCCCTGGATGGCGGTGGCCTGCATGGGTCCCCAGTTCGGCCATGGGAGCCGGCCTGGTGACTGGAGTGGTGACCAAGGCCGGGACCCGCTGCTCAGCGTCGGCCCCCTGGGGCGGTGGAGCCCTGCCGGCCGGGGGCTCGAGCCTGGGGGCGTCAGACGCCCCGCTCCACCCCCCGCGCTGTTGGGGATTTTGGCAAGGACGCGCCGGGGCGAACGCTCTGGCTCTCCGCGGGCACTGGGTGGTCAGGCGGGCACTCGGGTTACACTGACACCTTGCTGCGCCAGGTGGTGGGTTCAGATAATGCCCTGGAGGAGCCGGGCGAGCGCCGGCGAGGGGAGGGAGTGACGCGGGTAAACAAGCGCGGGGGTGCGGGGGACTCGCGAGCGCCGCGACAGCGCCTGGGAGAAGGGCACGGATCGCCGGCGGAACGCTCCGAGCCAGGTCGAGTACAGATGTTTTCCCATTGGCAAGTGGACGAGAACGTTCTTCAGAAGTGTTGGTGTTGGCACAGAAGCCCTGTTTCCTGCTGCGCTGGTGTGACCAGTGGCTGCTGGGGGTGGGGTTAGGGAGGTGGTTGTGGCCAGGAGGGCGGGAGGTGGCCAAGGCCGGCCCCTGGGAGGGTGCAGTGCTAGGACCTCCCTCTGGAGCGCTGCCAGCATACCAGGCCCTCTCCTATTCTTAAAAAAAAAAAAATTGTGATGTTATTGAGCTGTAACTGAAATAAGGGTTCACCCATTTAGTGTACAAGTCAGTGGTTTTCACTATTTTCATAGGTTTGTGGACCATATTCAGTGTGAGAGCTTTTCATCACCTTATAAACGCCATACATACCTTTTATCACCCTCTTATCCACATGCCCCCAGCAACCTCCTTTCTGTATCTATTCATCTTGCAATCCTGGACATTTCATGTAAATAGAATCAGACAATGTAGTCTTGCAAGTGGTTTCTTTCACTTAGTGTAATGTGTTCAGTGTTGTGGCACATATCAGAACTAGTTTTTTTTGGAGGAATAATATTCTGTTGTGTGGACAGGCCATGTTTTGTTTACCTGTTCATTAGTTGACAGACATTTGGGTTGTTTGCATCTTTGGGTGCCTCACCTGTGCCCTCGGTGGATGGCGTGGTTTGGTCTGCACAGCTGTGCTTTAAAGCCATTTCAGCTCATATGTATCTGTCACAAATGGAGACTACATACAAATACGTGTCTTTCAGCTTTGTTAGGGAAGGAAGCAGGCAGATGCCCTTGTCTTCTCCTTTACTCCCAAGCCACTAGAAGTCTAAGGCCTTTGTGGGGCTGGGCCCCTCAGGAGCAGGTCACAGGCAGGGATCTCCCACAGTTGAAGACGGACATGGGCCTGGTCGGATGGGGAATGAGGTGGCACGTTTCTGAAAAGGCAGCTGGCCCAAGGCTAAATAAGTGCAGCAGCCAAAGCTGCTGCCCCTGTGCACAGGCCCTCCGCCCCCTGCATGTGGCTGTGGTCCAGGGCCCAGGTCGGAGCACTCACCTTCCAGGAGGTGCCAGAGCAAGGGGGTAGTCTTGCCTCTCACTCCTGCCCTCTGTGGCTCAAGTAGGTGTGTTTGTTTATAGCCCTGTGAGTGTCCCTTTCATACTTGCCTCAGCCCATTCCAGCAGCTTATGTCCAGCTGAGAACCCCTGGGTGCTCACGTGCTGTCTTTTAAACAATCTAGATGAGGACGGGGACTTGGTTGCCTTTTC
Task1_train_9911
A sequence alteration has been identified in SQSTM1 (sequestosome 1) on Chromosome 5. Is it disease-inducing or harmless?
Pathogenic; Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
TACTTGACCCAGCAAAGAACATTTAGATAGAGGTCCTAGCTGAAACATTGAATGTTCTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCCAACTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTTCTGCCTCGGCCTCCCGAGTAACTGAGACTACAGGCGATTGCCACCACGCCCAGCTGATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGCCAGGGTAGTCTCGATCTCCTGATCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCTCGGCCTACTGAATGTTCTTTTAACAAAAAATTGCGTCTTGGAAAGGGTAGTGGAAGGAGAGGCAGGTACTGGTCCAGAGTAGGAAGTGCGCAGATGTGAACTCCAGCAGCAGGCAAGAGCAGCGTGAGCTGAAAGGGCACAGGGAGAGTTTGGGGAGTGGGATGGGGGCAGGGAGTGTGCACCACAGCCTTTGGCAACTGGTGACTCTAAGCTGTGGGTGTGGAGACTTTTGACACATTTAATTTCAAAAATAGTGCAGGTGATTCTCCCCTCTGTCCCTGGTGAGTCACGTGAGCCTGGAGGTGTGCAGGTTCCCTGTGGGGCCAGCGTTGGGCCCTACGCAGCGCCTGCACGGCCCATCCACCTCCCAGAGCAGAGCTCCGGCGTTGAGGTGTGCGTGTGTGTCGTCGCACAAAGCCTCTGTGTGCAGGTGTCAGGAGGCACATGGCCTTCCATCACTGTGGCTGGAAGCGCCTGCCACATGTGGTATTGGCTCTCCCTGTACTTAGGGCCTGGCCCCACCTGCCGTGTGGCCCGTGTCCTGCATGGTTAGGAAAAAGGTCTCTTTCGACTTTCTGGCTCAGAAGCTGACTTTAGATGCTAGCTGAGGTTAATGTTTTACTGAATTGGAGAAAGAGAAAGGTCCAGTATCATGGGCCCACCAAGAATGTTTCCAGAAGCCACAGAGATTTGTAGCTGGGATATGGGGAGAAGCCTCTGACTCATGGGTTTGTATCGTCTGGTCCCATACTGGCTGTGTGATTGCGGGGTCGAGCTGGGTAGAACCTAGCACCTGCATCCACACGCTGAGTGCCACCATCCAGACACTTAGCTGCTTGTGGGGACTGAACGTTGAGATCTTCGTGAGTCTGTAGTCTCCACAGGCCAAGCTCCTGCTTGCAGGTGCATCCTTGGGGGAACTTCACGGCTTGCTCTTTCCTCCTCCGCCTCTAGGCATTGAAGTTGATATCGATGTGGAGCACGGAGGGAAAAGAAGCCGCCTGACCCCCGTCTCTCCAGAGAGTTCCAGCACAGAGGAGAAGAGCAGCTCACAGCCAAGCAGCTGCTGCTCTGACCCCAGCAAGCCGGGTGGGAATGTTGAGGGCGCCACGCAGTCTCTGGCGGAGCAGATGAGGAAGATCGCCTTGGAGTCCGAGGGGCGCCCTGAGGCAAGCCTGTGCCCCTCCCGCCACCTGGGACCACGGCCAGCCTAGTGATCTGTGGCCTGCACCTCCGCCTCATCCTCAGCACCTCTGCAGCCCCACTTACAAACCCGAGGGAGCTGCTGCTGCTGCAGTGATGTCTGTGCCATTAAAGTCACGCTGGGAACCTGCTAGAACTTTGTAGTTACTTGGTCTTTGTGAGTGGCCACTGTTCCCCCTAGACCCCTGCAGCCTTAACTGCACGTGTGCATGCGTGCTCCCCGACTGTCTGCCAGGAGCCAGGGCCATGGTCAGGCTTGGCCTGTTGCGCGTGTCTCCTGTGTGCTCATGGTGAGTTTTGTTCCAGGAACAGATGGAGTCGGATAACTGTTCAGGAGGAGATGATGACTGGACCCATCTGTCTTCAAAAGAAGTGGACCCGTCTACAGGTGAACTCCAGTCCCTACAGATGCCAGAATCCGAAGGGCCAAGCTCTCTGGACCCCTCCCAGGAGGGACCCACAGGGCTGAAGGAAGCTGCCTTGTACCCACATCTCCCGCCAGGCAAGTGAACCAAGAGGTTTTGTACATATTCCTACCTTTCCCTTTAGAGCATCCTGCCCTCCTCTGATTTCAGCGACACAAACAGAAGGATGAGATGTTCTCCACTGCAGGGCTGTCTGTAGGTGTGGGAGGTTAGGAGTTGGTTTTGTCCTATTATGTGTACCCTGAGCAATAGCGAGTAAGCTCTGCTAATGCAGTTCTGAAAATGTTTTTCTTTAGGCAAACTCCAGAGCCAGGAATATTAATTGTAGGAGTTTCTAAAACTTAACATGCAGACCAGGAATTAAGGCAGGTGTGACACAGAGAGGGGGCAGCACTGGGTGTGTCCCTACTACTCACACTCAAGTGCCGCCTCAGGGAGTGCTGGTCTGAGAGGGGGGGGGGTCATAGCCAAGATCCCTGTAGGAGCCAGGCAGAAGCCACCGTTGAAGTGGATGGTGTGGCAGGCAGCAGTGGGGGGGTGGGGGGTGGGGACAGCTGACAGAAACTCCTCATTGTCACATGGCAGCCGTGTGTAAACCAAGGTCCGTGTGCACAACCTGCTGTGGGCCGCCGCTGTGTGTCTTCTCTGCCTTAGGGCAGGGGATGGCGAGCTATGGCCTATGGGCCAAGAGTAGTTCTTATTTTTGTTTATTTATTTATTTATTTTTATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGCGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACGGGGTTGGGGGTAAGGTCACAGATCAACAGGATAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCCACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCCGCTTTCTATTCCACAAAGCCGCCATTGTCATCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACATCCCGGACGGGGTGGCTGCCGGGCGGAGGGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCACCTCCCGGATGGGGTCGCGGCCAGGCAGAGGCGCTCCTCACATCCCAGACAGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGTGGCCGGGCAGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATTCCAGACGATGGGCGGCCAGGCAGAGACGCTCCTCACTTCCCAGACGGGGTGGCGGCCGGGCAGAGGCTGCAATCTCGGCACTTTGGGAGGCTAAGGCAGGCAGCTGGGAGGTGGAGGTTGTAGCGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCACCATTGAGCACTGAGTGAACCAGACTCCGTCTGCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCGGATCACTCGTGGTTAGGAGCTGGAGACCAGCCCGGCCAACACAGCGAAACCCCGTCTCCACCAAAAAAACACGAAAACCAGTCAGTCGTGGCGGCGCGCACCTGCAATCGCAGGCACTCGGCAGGCTGAGGCAAGAGAATCAGGCAGGGAGGTTGCAGTGAGCCGAGATGGCAGCAGTACAGTCCAGCTTTGGCTCGGCATCAGAGGGAGACCGTGGAGAAAGAGGGAGAGGGAAAGCTATATCATTCTTATGTCTTTGCATCATCATAGCTTAGCATCTACTCATAAGTGAGAACATATGATATTTGGTATCCATTCCTGAATTACTTTACTTAGGATAATGGCCTCCAGCTCCGTCCAAGTTGCTGCA
TACTTGACCCAGCAAAGAACATTTAGATAGAGGTCCTAGCTGAAACATTGAATGTTCTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCCAACTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTTCTGCCTCGGCCTCCCGAGTAACTGAGACTACAGGCGATTGCCACCACGCCCAGCTGATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGCCAGGGTAGTCTCGATCTCCTGATCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCTCGGCCTACTGAATGTTCTTTTAACAAAAAATTGCGTCTTGGAAAGGGTAGTGGAAGGAGAGGCAGGTACTGGTCCAGAGTAGGAAGTGCGCAGATGTGAACTCCAGCAGCAGGCAAGAGCAGCGTGAGCTGAAAGGGCACAGGGAGAGTTTGGGGAGTGGGATGGGGGCAGGGAGTGTGCACCACAGCCTTTGGCAACTGGTGACTCTAAGCTGTGGGTGTGGAGACTTTTGACACATTTAATTTCAAAAATAGTGCAGGTGATTCTCCCCTCTGTCCCTGGTGAGTCACGTGAGCCTGGAGGTGTGCAGGTTCCCTGTGGGGCCAGCGTTGGGCCCTACGCAGCGCCTGCACGGCCCATCCACCTCCCAGAGCAGAGCTCCGGCGTTGAGGTGTGCGTGTGTGTCGTCGCACAAAGCCTCTGTGTGCAGGTGTCAGGAGGCACATGGCCTTCCATCACTGTGGCTGGAAGCGCCTGCCACATGTGGTATTGGCTCTCCCTGTACTTAGGGCCTGGCCCCACCTGCCGTGTGGCCCGTGTCCTGCATGGTTAGGAAAAAGGTCTCTTTCGACTTTCTGGCTCAGAAGCTGACTTTAGATGCTAGCTGAGGTTAATGTTTTACTGAATTGGAGAAAGAGAAAGGTCCAGTATCATGGGCCCACCAAGAATGTTTCCAGAAGCCACAGAGATTTGTAGCTGGGATATGGGGAGAAGCCTCTGACTCATGGGTTTGTATCGTCTGGTCCCATACTGGCTGTGTGATTGCGGGGTCGAGCTGGGTAGAACCTAGCACCTGCATCCACACGCTGAGTGCCACCATCCAGACACTTAGCTGCTTGTGGGGACTGAACGTTGAGATCTTCGTGAGTCTGTAGTCTCCACAGGCCAAGCTCCTGCTTGCAGGTGCATCCTTGGGGGAACTTCACGGCTTGCTCTTTCCTCCTCCGCCTCTAGGCATTGAAGTTGATATCGATGTGGAGCACGGAGGGAAAAGAAGCCGCCTGACCCCCGTCTCTCCAGAGAGTTCCAGCACAGAGGAGAAGAGCAGCTCACAGCCAAGCAGCTGCTGCTCTGACCCCAGCAAGCCGGGTGGGAATGTTGAGGGCGCCACGCAGTCTCTGGCGGAGCAGATGAGGAAGATCGCCTTGGAGTCCGAGGGGCGCCCTGAGGCAAGCCTGTGCCCCTCCCGCCACCTGGGACCACGGCCAGCCTAGTGATCTGTGGCCTGCACCTCCGCCTCATCCTCAGCACCTCTGCAGCCCCACTTACAAACCCGAGGGAGCTGCTGCTGCTGCAGTGATGTCTGTGCCATTAAAGTCACGCTGGGAACCTGCTAGAACTTTGTAGTTACTTGGTCTTTGTGAGTGGCCACTGTTCCCCCTAGACCCCTGCAGCCTTAACTGCACGTGTGCATGCGTGCTCCCCGACTGTCTGCCAGGAGCCAGGGCCATGGTCAGGCTTGGCCTGTTGCGCGTGTCTCCTGTGTGCTCATGGTGAGTTTTGTTCCAGGAACAGATGGAGTCGGATAACTGTTCAGGAGGAGATGATGACTGGACCCATCTGTCTTCAAAAGAAGTGGACCCGTCTACAGGTGAACTCCAGTCCCTACAGATGCCAGAATCCGAAGGGCCAAGCTCTCTGGACCCCTCCCAGGAGGGACCCACAGGGCTGAAGGAAGCTGCCTTGTACCCACATCTCCCGCCACGCAAGTGAACCAAGAGGTTTTGTACATATTCCTACCTTTCCCTTTAGAGCATCCTGCCCTCCTCTGATTTCAGCGACACAAACAGAAGGATGAGATGTTCTCCACTGCAGGGCTGTCTGTAGGTGTGGGAGGTTAGGAGTTGGTTTTGTCCTATTATGTGTACCCTGAGCAATAGCGAGTAAGCTCTGCTAATGCAGTTCTGAAAATGTTTTTCTTTAGGCAAACTCCAGAGCCAGGAATATTAATTGTAGGAGTTTCTAAAACTTAACATGCAGACCAGGAATTAAGGCAGGTGTGACACAGAGAGGGGGCAGCACTGGGTGTGTCCCTACTACTCACACTCAAGTGCCGCCTCAGGGAGTGCTGGTCTGAGAGGGGGGGGGGTCATAGCCAAGATCCCTGTAGGAGCCAGGCAGAAGCCACCGTTGAAGTGGATGGTGTGGCAGGCAGCAGTGGGGGGGTGGGGGGTGGGGACAGCTGACAGAAACTCCTCATTGTCACATGGCAGCCGTGTGTAAACCAAGGTCCGTGTGCACAACCTGCTGTGGGCCGCCGCTGTGTGTCTTCTCTGCCTTAGGGCAGGGGATGGCGAGCTATGGCCTATGGGCCAAGAGTAGTTCTTATTTTTGTTTATTTATTTATTTATTTTTATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGCGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACGGGGTTGGGGGTAAGGTCACAGATCAACAGGATAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCCACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCCGCTTTCTATTCCACAAAGCCGCCATTGTCATCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACATCCCGGACGGGGTGGCTGCCGGGCGGAGGGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCACCTCCCGGATGGGGTCGCGGCCAGGCAGAGGCGCTCCTCACATCCCAGACAGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGTGGCCGGGCAGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATTCCAGACGATGGGCGGCCAGGCAGAGACGCTCCTCACTTCCCAGACGGGGTGGCGGCCGGGCAGAGGCTGCAATCTCGGCACTTTGGGAGGCTAAGGCAGGCAGCTGGGAGGTGGAGGTTGTAGCGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCACCATTGAGCACTGAGTGAACCAGACTCCGTCTGCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCGGATCACTCGTGGTTAGGAGCTGGAGACCAGCCCGGCCAACACAGCGAAACCCCGTCTCCACCAAAAAAACACGAAAACCAGTCAGTCGTGGCGGCGCGCACCTGCAATCGCAGGCACTCGGCAGGCTGAGGCAAGAGAATCAGGCAGGGAGGTTGCAGTGAGCCGAGATGGCAGCAGTACAGTCCAGCTTTGGCTCGGCATCAGAGGGAGACCGTGGAGAAAGAGGGAGAGGGAAAGCTATATCATTCTTATGTCTTTGCATCATCATAGCTTAGCATCTACTCATAAGTGAGAACATATGATATTTGGTATCCATTCCTGAATTACTTTACTTAGGATAATGGCCTCCAGCTCCGTCCAAGTTGCTGCA
Task1_train_9912
Here is a variant affecting SQSTM1 (sequestosome 1) on Chromosome 5. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Paget disease of bone 2, early-onset
TACTTGACCCAGCAAAGAACATTTAGATAGAGGTCCTAGCTGAAACATTGAATGTTCTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCCAACTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTTCTGCCTCGGCCTCCCGAGTAACTGAGACTACAGGCGATTGCCACCACGCCCAGCTGATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGCCAGGGTAGTCTCGATCTCCTGATCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCTCGGCCTACTGAATGTTCTTTTAACAAAAAATTGCGTCTTGGAAAGGGTAGTGGAAGGAGAGGCAGGTACTGGTCCAGAGTAGGAAGTGCGCAGATGTGAACTCCAGCAGCAGGCAAGAGCAGCGTGAGCTGAAAGGGCACAGGGAGAGTTTGGGGAGTGGGATGGGGGCAGGGAGTGTGCACCACAGCCTTTGGCAACTGGTGACTCTAAGCTGTGGGTGTGGAGACTTTTGACACATTTAATTTCAAAAATAGTGCAGGTGATTCTCCCCTCTGTCCCTGGTGAGTCACGTGAGCCTGGAGGTGTGCAGGTTCCCTGTGGGGCCAGCGTTGGGCCCTACGCAGCGCCTGCACGGCCCATCCACCTCCCAGAGCAGAGCTCCGGCGTTGAGGTGTGCGTGTGTGTCGTCGCACAAAGCCTCTGTGTGCAGGTGTCAGGAGGCACATGGCCTTCCATCACTGTGGCTGGAAGCGCCTGCCACATGTGGTATTGGCTCTCCCTGTACTTAGGGCCTGGCCCCACCTGCCGTGTGGCCCGTGTCCTGCATGGTTAGGAAAAAGGTCTCTTTCGACTTTCTGGCTCAGAAGCTGACTTTAGATGCTAGCTGAGGTTAATGTTTTACTGAATTGGAGAAAGAGAAAGGTCCAGTATCATGGGCCCACCAAGAATGTTTCCAGAAGCCACAGAGATTTGTAGCTGGGATATGGGGAGAAGCCTCTGACTCATGGGTTTGTATCGTCTGGTCCCATACTGGCTGTGTGATTGCGGGGTCGAGCTGGGTAGAACCTAGCACCTGCATCCACACGCTGAGTGCCACCATCCAGACACTTAGCTGCTTGTGGGGACTGAACGTTGAGATCTTCGTGAGTCTGTAGTCTCCACAGGCCAAGCTCCTGCTTGCAGGTGCATCCTTGGGGGAACTTCACGGCTTGCTCTTTCCTCCTCCGCCTCTAGGCATTGAAGTTGATATCGATGTGGAGCACGGAGGGAAAAGAAGCCGCCTGACCCCCGTCTCTCCAGAGAGTTCCAGCACAGAGGAGAAGAGCAGCTCACAGCCAAGCAGCTGCTGCTCTGACCCCAGCAAGCCGGGTGGGAATGTTGAGGGCGCCACGCAGTCTCTGGCGGAGCAGATGAGGAAGATCGCCTTGGAGTCCGAGGGGCGCCCTGAGGCAAGCCTGTGCCCCTCCCGCCACCTGGGACCACGGCCAGCCTAGTGATCTGTGGCCTGCACCTCCGCCTCATCCTCAGCACCTCTGCAGCCCCACTTACAAACCCGAGGGAGCTGCTGCTGCTGCAGTGATGTCTGTGCCATTAAAGTCACGCTGGGAACCTGCTAGAACTTTGTAGTTACTTGGTCTTTGTGAGTGGCCACTGTTCCCCCTAGACCCCTGCAGCCTTAACTGCACGTGTGCATGCGTGCTCCCCGACTGTCTGCCAGGAGCCAGGGCCATGGTCAGGCTTGGCCTGTTGCGCGTGTCTCCTGTGTGCTCATGGTGAGTTTTGTTCCAGGAACAGATGGAGTCGGATAACTGTTCAGGAGGAGATGATGACTGGACCCATCTGTCTTCAAAAGAAGTGGACCCGTCTACAGGTGAACTCCAGTCCCTACAGATGCCAGAATCCGAAGGGCCAAGCTCTCTGGACCCCTCCCAGGAGGGACCCACAGGGCTGAAGGAAGCTGCCTTGTACCCACATCTCCCGCCAGGCAAGTGAACCAAGAGGTTTTGTACATATTCCTACCTTTCCCTTTAGAGCATCCTGCCCTCCTCTGATTTCAGCGACACAAACAGAAGGATGAGATGTTCTCCACTGCAGGGCTGTCTGTAGGTGTGGGAGGTTAGGAGTTGGTTTTGTCCTATTATGTGTACCCTGAGCAATAGCGAGTAAGCTCTGCTAATGCAGTTCTGAAAATGTTTTTCTTTAGGCAAACTCCAGAGCCAGGAATATTAATTGTAGGAGTTTCTAAAACTTAACATGCAGACCAGGAATTAAGGCAGGTGTGACACAGAGAGGGGGCAGCACTGGGTGTGTCCCTACTACTCACACTCAAGTGCCGCCTCAGGGAGTGCTGGTCTGAGAGGGGGGGGGGTCATAGCCAAGATCCCTGTAGGAGCCAGGCAGAAGCCACCGTTGAAGTGGATGGTGTGGCAGGCAGCAGTGGGGGGGTGGGGGGTGGGGACAGCTGACAGAAACTCCTCATTGTCACATGGCAGCCGTGTGTAAACCAAGGTCCGTGTGCACAACCTGCTGTGGGCCGCCGCTGTGTGTCTTCTCTGCCTTAGGGCAGGGGATGGCGAGCTATGGCCTATGGGCCAAGAGTAGTTCTTATTTTTGTTTATTTATTTATTTATTTTTATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGCGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACGGGGTTGGGGGTAAGGTCACAGATCAACAGGATAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCCACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCCGCTTTCTATTCCACAAAGCCGCCATTGTCATCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACATCCCGGACGGGGTGGCTGCCGGGCGGAGGGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCACCTCCCGGATGGGGTCGCGGCCAGGCAGAGGCGCTCCTCACATCCCAGACAGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGTGGCCGGGCAGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATTCCAGACGATGGGCGGCCAGGCAGAGACGCTCCTCACTTCCCAGACGGGGTGGCGGCCGGGCAGAGGCTGCAATCTCGGCACTTTGGGAGGCTAAGGCAGGCAGCTGGGAGGTGGAGGTTGTAGCGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCACCATTGAGCACTGAGTGAACCAGACTCCGTCTGCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCGGATCACTCGTGGTTAGGAGCTGGAGACCAGCCCGGCCAACACAGCGAAACCCCGTCTCCACCAAAAAAACACGAAAACCAGTCAGTCGTGGCGGCGCGCACCTGCAATCGCAGGCACTCGGCAGGCTGAGGCAAGAGAATCAGGCAGGGAGGTTGCAGTGAGCCGAGATGGCAGCAGTACAGTCCAGCTTTGGCTCGGCATCAGAGGGAGACCGTGGAGAAAGAGGGAGAGGGAAAGCTATATCATTCTTATGTCTTTGCATCATCATAGCTTAGCATCTACTCATAAGTGAGAACATATGATATTTGGTATCCATTCCTGAATTACTTTACTTAGGATAATGGCCTCCAGCTCCGTCCAAGTTGCTGCA
TACTTGACCCAGCAAAGAACATTTAGATAGAGGTCCTAGCTGAAACATTGAATGTTCTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCCAACTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTTCTGCCTCGGCCTCCCGAGTAACTGAGACTACAGGCGATTGCCACCACGCCCAGCTGATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGCCAGGGTAGTCTCGATCTCCTGATCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCTCGGCCTACTGAATGTTCTTTTAACAAAAAATTGCGTCTTGGAAAGGGTAGTGGAAGGAGAGGCAGGTACTGGTCCAGAGTAGGAAGTGCGCAGATGTGAACTCCAGCAGCAGGCAAGAGCAGCGTGAGCTGAAAGGGCACAGGGAGAGTTTGGGGAGTGGGATGGGGGCAGGGAGTGTGCACCACAGCCTTTGGCAACTGGTGACTCTAAGCTGTGGGTGTGGAGACTTTTGACACATTTAATTTCAAAAATAGTGCAGGTGATTCTCCCCTCTGTCCCTGGTGAGTCACGTGAGCCTGGAGGTGTGCAGGTTCCCTGTGGGGCCAGCGTTGGGCCCTACGCAGCGCCTGCACGGCCCATCCACCTCCCAGAGCAGAGCTCCGGCGTTGAGGTGTGCGTGTGTGTCGTCGCACAAAGCCTCTGTGTGCAGGTGTCAGGAGGCACATGGCCTTCCATCACTGTGGCTGGAAGCGCCTGCCACATGTGGTATTGGCTCTCCCTGTACTTAGGGCCTGGCCCCACCTGCCGTGTGGCCCGTGTCCTGCATGGTTAGGAAAAAGGTCTCTTTCGACTTTCTGGCTCAGAAGCTGACTTTAGATGCTAGCTGAGGTTAATGTTTTACTGAATTGGAGAAAGAGAAAGGTCCAGTATCATGGGCCCACCAAGAATGTTTCCAGAAGCCACAGAGATTTGTAGCTGGGATATGGGGAGAAGCCTCTGACTCATGGGTTTGTATCGTCTGGTCCCATACTGGCTGTGTGATTGCGGGGTCGAGCTGGGTAGAACCTAGCACCTGCATCCACACGCTGAGTGCCACCATCCAGACACTTAGCTGCTTGTGGGGACTGAACGTTGAGATCTTCGTGAGTCTGTAGTCTCCACAGGCCAAGCTCCTGCTTGCAGGTGCATCCTTGGGGGAACTTCACGGCTTGCTCTTTCCTCCTCCGCCTCTAGGCATTGAAGTTGATATCGATGTGGAGCACGGAGGGAAAAGAAGCCGCCTGACCCCCGTCTCTCCAGAGAGTTCCAGCACAGAGGAGAAGAGCAGCTCACAGCCAAGCAGCTGCTGCTCTGACCCCAGCAAGCCGGGTGGGAATGTTGAGGGCGCCACGCAGTCTCTGGCGGAGCAGATGAGGAAGATCGCCTTGGAGTCCGAGGGGCGCCCTGAGGCAAGCCTGTGCCCCTCCCGCCACCTGGGACCACGGCCAGCCTAGTGATCTGTGGCCTGCACCTCCGCCTCATCCTCAGCACCTCTGCAGCCCCACTTACAAACCCGAGGGAGCTGCTGCTGCTGCAGTGATGTCTGTGCCATTAAAGTCACGCTGGGAACCTGCTAGAACTTTGTAGTTACTTGGTCTTTGTGAGTGGCCACTGTTCCCCCTAGACCCCTGCAGCCTTAACTGCACGTGTGCATGCGTGCTCCCCGACTGTCTGCCAGGAGCCAGGGCCATGGTCAGGCTTGGCCTGTTGCGCGTGTCTCCTGTGTGCTCATGGTGAGTTTTGTTCCAGGAACAGATGGAGTCGGATAACTGTTCAGGAGGAGATGATGACTGGACCCATCTGTCTTCAAAAGAAGTGGACCCGTCTACAGGTGAACTCCAGTCCCTACAGATGCCAGAATCCGAAGGGCCAAGCTCTCTGGACCCCTCCCAGGAGGGACCCACAGGGCTGAAGGAAGCTGCCTTGTACCCACATCTCCCGCCACGCAAGTGAACCAAGAGGTTTTGTACATATTCCTACCTTTCCCTTTAGAGCATCCTGCCCTCCTCTGATTTCAGCGACACAAACAGAAGGATGAGATGTTCTCCACTGCAGGGCTGTCTGTAGGTGTGGGAGGTTAGGAGTTGGTTTTGTCCTATTATGTGTACCCTGAGCAATAGCGAGTAAGCTCTGCTAATGCAGTTCTGAAAATGTTTTTCTTTAGGCAAACTCCAGAGCCAGGAATATTAATTGTAGGAGTTTCTAAAACTTAACATGCAGACCAGGAATTAAGGCAGGTGTGACACAGAGAGGGGGCAGCACTGGGTGTGTCCCTACTACTCACACTCAAGTGCCGCCTCAGGGAGTGCTGGTCTGAGAGGGGGGGGGGTCATAGCCAAGATCCCTGTAGGAGCCAGGCAGAAGCCACCGTTGAAGTGGATGGTGTGGCAGGCAGCAGTGGGGGGGTGGGGGGTGGGGACAGCTGACAGAAACTCCTCATTGTCACATGGCAGCCGTGTGTAAACCAAGGTCCGTGTGCACAACCTGCTGTGGGCCGCCGCTGTGTGTCTTCTCTGCCTTAGGGCAGGGGATGGCGAGCTATGGCCTATGGGCCAAGAGTAGTTCTTATTTTTGTTTATTTATTTATTTATTTTTATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGCGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACGGGGTTGGGGGTAAGGTCACAGATCAACAGGATAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCCACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCCGCTTTCTATTCCACAAAGCCGCCATTGTCATCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACATCCCGGACGGGGTGGCTGCCGGGCGGAGGGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCACCTCCCGGATGGGGTCGCGGCCAGGCAGAGGCGCTCCTCACATCCCAGACAGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGTGGCCGGGCAGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATTCCAGACGATGGGCGGCCAGGCAGAGACGCTCCTCACTTCCCAGACGGGGTGGCGGCCGGGCAGAGGCTGCAATCTCGGCACTTTGGGAGGCTAAGGCAGGCAGCTGGGAGGTGGAGGTTGTAGCGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCACCATTGAGCACTGAGTGAACCAGACTCCGTCTGCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCGGATCACTCGTGGTTAGGAGCTGGAGACCAGCCCGGCCAACACAGCGAAACCCCGTCTCCACCAAAAAAACACGAAAACCAGTCAGTCGTGGCGGCGCGCACCTGCAATCGCAGGCACTCGGCAGGCTGAGGCAAGAGAATCAGGCAGGGAGGTTGCAGTGAGCCGAGATGGCAGCAGTACAGTCCAGCTTTGGCTCGGCATCAGAGGGAGACCGTGGAGAAAGAGGGAGAGGGAAAGCTATATCATTCTTATGTCTTTGCATCATCATAGCTTAGCATCTACTCATAAGTGAGAACATATGATATTTGGTATCCATTCCTGAATTACTTTACTTAGGATAATGGCCTCCAGCTCCGTCCAAGTTGCTGCA
Task1_train_9913
A sequence alteration has been identified in SQSTM1 (sequestosome 1) on Chromosome 5. Is it disease-inducing or harmless?
Pathogenic; SQSTM1-related disorder
TATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGCGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACGGGGTTGGGGGTAAGGTCACAGATCAACAGGATAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCCACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCCGCTTTCTATTCCACAAAGCCGCCATTGTCATCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACATCCCGGACGGGGTGGCTGCCGGGCGGAGGGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCACCTCCCGGATGGGGTCGCGGCCAGGCAGAGGCGCTCCTCACATCCCAGACAGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGTGGCCGGGCAGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATTCCAGACGATGGGCGGCCAGGCAGAGACGCTCCTCACTTCCCAGACGGGGTGGCGGCCGGGCAGAGGCTGCAATCTCGGCACTTTGGGAGGCTAAGGCAGGCAGCTGGGAGGTGGAGGTTGTAGCGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCACCATTGAGCACTGAGTGAACCAGACTCCGTCTGCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCGGATCACTCGTGGTTAGGAGCTGGAGACCAGCCCGGCCAACACAGCGAAACCCCGTCTCCACCAAAAAAACACGAAAACCAGTCAGTCGTGGCGGCGCGCACCTGCAATCGCAGGCACTCGGCAGGCTGAGGCAAGAGAATCAGGCAGGGAGGTTGCAGTGAGCCGAGATGGCAGCAGTACAGTCCAGCTTTGGCTCGGCATCAGAGGGAGACCGTGGAGAAAGAGGGAGAGGGAAAGCTATATCATTCTTATGTCTTTGCATCATCATAGCTTAGCATCTACTCATAAGTGAGAACATATGATATTTGGTATCCATTCCTGAATTACTTTACTTAGGATAATGGCCTCCAGCTCCGTCCAAGTTGCTGCAAAAGGTATTATTTCGTTCCTTTTTGTGGCTGAGTAGTATTCCATGGTGTATATATACCACATTTTCTTTATCCACTCATTGCTTGATGGGCAGTTAGGTTGGTTCCACATCTTTGCAATTGTGAGTTGTGCTGCTCCAGATATCATCTTTAACTCCTTTGCCTTCTCCACATACATTTCCAAGTCCTGTTCATTCTACCTCCAAAATGTATCTTGTATCCATTCATCTCTCTCCATCTTCAATCTATTTCAATGCCCCATCATCTCTTGCATGGAGGAGTGTAATAATTGGCTAACTGGCCTGTTCTTACATTTTAAAATCAAAAGATGTGACAGGTGAAATGCCTATTTCAGTGTCCATTGATGGTTCTGCTTACACACCACCTGGCTGCCTGGTGTCGCAGTGGCAGAGTTGAGCAGTGTGAAAAAGACTGCTTGGCCCTTTACAGGGAAAGCAGGTCCACTGTGGCCTGTGAGGACGAGAGCTCTGGGCAGGCTCGGACACTGGCAGACCCTGGTCCTGGCTGGCCAAGGCAGCAGGGTATGTGTTTCGGGTCACTCACAGGGCTCAGCACCACTCCTCATGGCTTCCTTACTGTTTCGGCAGAGGCTGACCCGCGGCTGATTGAGTCCCTCTCCCAGATGCTGTCCATGGGCTTCTCTGATGAAGGCGGCTGGCTCACCAGGCTCCTGCAGACCAAGAACTATGACATCGGAGCGGCTCTGGACACCATCCAGTATTCAAAGCATCCCCCGCCGTTGTGACCACTTTTGCCCACCTCTTCTGCGTGCCCCTCTTCTGTCTCATAGTTGTGTTAAGCTTGCGTAGAATTGCAGGTCTCTGTACGGGCCAGTTTCTCTGCCTTCTTCCAGGATCAGGGGTTAGGGTGCAAGAAGCCATTTAGGGCAGCAAAACAAGTGACATGAAGGGAGGGTCCCTGTGTGTGTGTGTGCTGATGTTTCCTGGGTGCCCTGGCTCCTTGCAGCAGGGCTGGGCCTGCGAGACCCAAGGCTCACTGCAGCGCGCTCCTGACCCCTCCCTGCAGGGGCTACGTTAGCAGCCCAGCACATAGCTTGCCTAATGGCTTTCACTTTCTCTTTTGTTTTAAATGACTCATAGGTCCCTGACATTTAGTTGATTATTTTCTGCTACAGACCTGGTACACTCTGATTTTAGATAAAGTAAGCCTAGGTGTTGTCAGCAGGCAGGCTGGGGAGGCCAGTGTTGTGGGCTTCCTGCTGGGACTGAGAAGGCTCACGAAGGGCATCCGCAATGTTGGTTTCACTGAGAGCTGCCTCCTGGTCTCTTCACCACTGTAGTTCTCTCATTTCCAAACCATCAGCTGCTTTTAAAATAAGATCTCTTTGTAGCCATCCTGTTAAATTTGTAAACAATCTAATTAAATGGCATCAGCACTTTAACCAATGACGTTTGCATAGAGAGAAATGATTGACAGTAAGTTTATTGTTAATGGTTCTTACAGAGTATCTTTAAAAGTGCCTTAGGGGAACCCTGTCCCTCCTAACAAGTGTATCTCGATTAATAACCTGCCAGTCCCAGATCACACATCATCATCGAAGTCTTCCCCAGTTATAAAGAGGTCACATAGTCGTGTGGGTCGAGGATTCTGTGCCTCCAGGACCAGGGGCCCACCCTCTGCCCAGGGAGTCCTTGCGTCCCATGAGGTCTTCCCGCAAGGCCTCTCAGACCCAGATGTGACGGGGTGTGTGGCCCGAGGAAGCTGGACAGCGGCAGTGGGCCTGCTGAGGCCTTCTCTTGAGGCCTGTGCTCTGGGGGTCCCTTGCTTAGCCTGTGCTGGACCAGCTGGCCTGGGGTCCCTCTGAAGAGACCTTGGCTGCTCACTGTCCACATGTGAACTTTTTCTAGGTGGCAGGACAAATTGCGCCCATTTAGAGGATGTGGCTGTAACCTGCTGGATGGGACTCCATAGCTCCTTCCCAGGACCCCTCAGCTCCCCGGCACTGCAGTCTGCAGAGTTCTCCTGGAGGCAGGGGCTGCTGCCTTGTTTCACCTTCCATGTCAGGCCAGCCTGTCCCTGAAAGAGAAGATGGCCATGCCCTCCATGTGTAAGAACAATGCCAGGGCCCAGGAGGACCGCCTGCCCTGCCTGGGCCTTGGCTGGGCCTCTGGTTCTGACACTTTCTGCTGGAAGCTGTCAGGCTGGGACAGGCTTTGATTTTGAGGGTTAGCAAGACAAAGCAAATAAATGCCTTCCACCTCACCGCAAACCTTCTGCTAAATTGCATGACCAGGCTTTCCAAAAACAAGACATTCTCATGTCATCAGGTGATCCATCTCCTGGGGACCTTAGAATCAGGTTACCGGTGCCTACAAAAGAATTTTGAGCAGAAGGGCCTCGAGACATCGGGAAAGGGGTGCGCTGGCTCCATTCTGCTACCTCCCACCGGGGGGCAGCTCTCCAGAGCCTGCCGGGTTCTGCAGCTGCAGAGGTGGCAGCACCGAGCTCCCTGTGGGATAGGACTGGTGCTGGGGTCTGGCTTCTCTCACCCCAGGAACCAAAGATGCTCTGAAAGTTGGGTGTCGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTAGATCACCTGAGGCCAGGAGTTCGAGATCAACCTGGCCAACATGGCGAAACCCTATCACTACTAAAAATACAAAAAT
TATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGCGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACGGGGTTGGGGGTAAGGTCACAGATCAACAGGATAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCCACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCCGCTTTCTATTCCACAAAGCCGCCATTGTCATCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACATCCCGGACGGGGTGGCTGCCGGGCGGAGGGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCACCTCCCGGATGGGGTCGCGGCCAGGCAGAGGCGCTCCTCACATCCCAGACAGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGTGGCCGGGCAGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATTCCAGACGATGGGCGGCCAGGCAGAGACGCTCCTCACTTCCCAGACGGGGTGGCGGCCGGGCAGAGGCTGCAATCTCGGCACTTTGGGAGGCTAAGGCAGGCAGCTGGGAGGTGGAGGTTGTAGCGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCACCATTGAGCACTGAGTGAACCAGACTCCGTCTGCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCGGATCACTCGTGGTTAGGAGCTGGAGACCAGCCCGGCCAACACAGCGAAACCCCGTCTCCACCAAAAAAACACGAAAACCAGTCAGTCGTGGCGGCGCGCACCTGCAATCGCAGGCACTCGGCAGGCTGAGGCAAGAGAATCAGGCAGGGAGGTTGCAGTGAGCCGAGATGGCAGCAGTACAGTCCAGCTTTGGCTCGGCATCAGAGGGAGACCGTGGAGAAAGAGGGAGAGGGAAAGCTATATCATTCTTATGTCTTTGCATCATCATAGCTTAGCATCTACTCATAAGTGAGAACATATGATATTTGGTATCCATTCCTGAATTACTTTACTTAGGATAATGGCCTCCAGCTCCGTCCAAGTTGCTGCAAAAGGTATTATTTCGTTCCTTTTTGTGGCTGAGTAGTATTCCATGGTGTATATATACCACATTTTCTTTATCCACTCATTGCTTGATGGGCAGTTAGGTTGGTTCCACATCTTTGCAATTGTGAGTTGTGCTGCTCCAGATATCATCTTTAACTCCTTTGCCTTCTCCACATACATTTCCAAGTCCTGTTCATTCTACCTCCAAAATGTATCTTGTATCCATTCATCTCTCTCCATCTTCAATCTATTTCAATGCCCCATCATCTCTTGCATGGAGGAGTGTAATAATTGGCTAACTGGCCTGTTCTTACATTTTAAAATCAAAAGATGTGACAGGTGAAATGCCTATTTCAGTGTCCATTGATGGTTCTGCTTACACACCACCTGGCTGCCTGGTGTCGCAGTGGCAGAGTTGAGCAGTGTGAAAAAGACTGCTTGGCCCTTTACAGGGAAAGCAGGTCCACTGTGGCCTGTGAGGACGAGAGCTCTGGGCAGGCTCGGACACTGGCAGACCCTGGTCCTGGCTGGCCAAGGCAGCAGGGTATGTGTTTCGGGTCACTCACAGGGCTCAGCACCACTCCTCATGGCTTCCTTACTGTTTCGGCAGAGGCTGACCCGCGGCTGATTGAGTCCCTCTCCCAGATGCTGTCCGTGGGCTTCTCTGATGAAGGCGGCTGGCTCACCAGGCTCCTGCAGACCAAGAACTATGACATCGGAGCGGCTCTGGACACCATCCAGTATTCAAAGCATCCCCCGCCGTTGTGACCACTTTTGCCCACCTCTTCTGCGTGCCCCTCTTCTGTCTCATAGTTGTGTTAAGCTTGCGTAGAATTGCAGGTCTCTGTACGGGCCAGTTTCTCTGCCTTCTTCCAGGATCAGGGGTTAGGGTGCAAGAAGCCATTTAGGGCAGCAAAACAAGTGACATGAAGGGAGGGTCCCTGTGTGTGTGTGTGCTGATGTTTCCTGGGTGCCCTGGCTCCTTGCAGCAGGGCTGGGCCTGCGAGACCCAAGGCTCACTGCAGCGCGCTCCTGACCCCTCCCTGCAGGGGCTACGTTAGCAGCCCAGCACATAGCTTGCCTAATGGCTTTCACTTTCTCTTTTGTTTTAAATGACTCATAGGTCCCTGACATTTAGTTGATTATTTTCTGCTACAGACCTGGTACACTCTGATTTTAGATAAAGTAAGCCTAGGTGTTGTCAGCAGGCAGGCTGGGGAGGCCAGTGTTGTGGGCTTCCTGCTGGGACTGAGAAGGCTCACGAAGGGCATCCGCAATGTTGGTTTCACTGAGAGCTGCCTCCTGGTCTCTTCACCACTGTAGTTCTCTCATTTCCAAACCATCAGCTGCTTTTAAAATAAGATCTCTTTGTAGCCATCCTGTTAAATTTGTAAACAATCTAATTAAATGGCATCAGCACTTTAACCAATGACGTTTGCATAGAGAGAAATGATTGACAGTAAGTTTATTGTTAATGGTTCTTACAGAGTATCTTTAAAAGTGCCTTAGGGGAACCCTGTCCCTCCTAACAAGTGTATCTCGATTAATAACCTGCCAGTCCCAGATCACACATCATCATCGAAGTCTTCCCCAGTTATAAAGAGGTCACATAGTCGTGTGGGTCGAGGATTCTGTGCCTCCAGGACCAGGGGCCCACCCTCTGCCCAGGGAGTCCTTGCGTCCCATGAGGTCTTCCCGCAAGGCCTCTCAGACCCAGATGTGACGGGGTGTGTGGCCCGAGGAAGCTGGACAGCGGCAGTGGGCCTGCTGAGGCCTTCTCTTGAGGCCTGTGCTCTGGGGGTCCCTTGCTTAGCCTGTGCTGGACCAGCTGGCCTGGGGTCCCTCTGAAGAGACCTTGGCTGCTCACTGTCCACATGTGAACTTTTTCTAGGTGGCAGGACAAATTGCGCCCATTTAGAGGATGTGGCTGTAACCTGCTGGATGGGACTCCATAGCTCCTTCCCAGGACCCCTCAGCTCCCCGGCACTGCAGTCTGCAGAGTTCTCCTGGAGGCAGGGGCTGCTGCCTTGTTTCACCTTCCATGTCAGGCCAGCCTGTCCCTGAAAGAGAAGATGGCCATGCCCTCCATGTGTAAGAACAATGCCAGGGCCCAGGAGGACCGCCTGCCCTGCCTGGGCCTTGGCTGGGCCTCTGGTTCTGACACTTTCTGCTGGAAGCTGTCAGGCTGGGACAGGCTTTGATTTTGAGGGTTAGCAAGACAAAGCAAATAAATGCCTTCCACCTCACCGCAAACCTTCTGCTAAATTGCATGACCAGGCTTTCCAAAAACAAGACATTCTCATGTCATCAGGTGATCCATCTCCTGGGGACCTTAGAATCAGGTTACCGGTGCCTACAAAAGAATTTTGAGCAGAAGGGCCTCGAGACATCGGGAAAGGGGTGCGCTGGCTCCATTCTGCTACCTCCCACCGGGGGGCAGCTCTCCAGAGCCTGCCGGGTTCTGCAGCTGCAGAGGTGGCAGCACCGAGCTCCCTGTGGGATAGGACTGGTGCTGGGGTCTGGCTTCTCTCACCCCAGGAACCAAAGATGCTCTGAAAGTTGGGTGTCGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTAGATCACCTGAGGCCAGGAGTTCGAGATCAACCTGGCCAACATGGCGAAACCCTATCACTACTAAAAATACAAAAAT
Task1_train_9914
This alteration occurs within gene SQSTM1 (sequestosome 1) located on Chromosome 5. Is it associated with a disease or is it a benign variant?
Pathogenic; Paget disease of bone 2, early-onset
TATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGCGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACGGGGTTGGGGGTAAGGTCACAGATCAACAGGATAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCCACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCCGCTTTCTATTCCACAAAGCCGCCATTGTCATCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACATCCCGGACGGGGTGGCTGCCGGGCGGAGGGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCACCTCCCGGATGGGGTCGCGGCCAGGCAGAGGCGCTCCTCACATCCCAGACAGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGTGGCCGGGCAGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATTCCAGACGATGGGCGGCCAGGCAGAGACGCTCCTCACTTCCCAGACGGGGTGGCGGCCGGGCAGAGGCTGCAATCTCGGCACTTTGGGAGGCTAAGGCAGGCAGCTGGGAGGTGGAGGTTGTAGCGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCACCATTGAGCACTGAGTGAACCAGACTCCGTCTGCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCGGATCACTCGTGGTTAGGAGCTGGAGACCAGCCCGGCCAACACAGCGAAACCCCGTCTCCACCAAAAAAACACGAAAACCAGTCAGTCGTGGCGGCGCGCACCTGCAATCGCAGGCACTCGGCAGGCTGAGGCAAGAGAATCAGGCAGGGAGGTTGCAGTGAGCCGAGATGGCAGCAGTACAGTCCAGCTTTGGCTCGGCATCAGAGGGAGACCGTGGAGAAAGAGGGAGAGGGAAAGCTATATCATTCTTATGTCTTTGCATCATCATAGCTTAGCATCTACTCATAAGTGAGAACATATGATATTTGGTATCCATTCCTGAATTACTTTACTTAGGATAATGGCCTCCAGCTCCGTCCAAGTTGCTGCAAAAGGTATTATTTCGTTCCTTTTTGTGGCTGAGTAGTATTCCATGGTGTATATATACCACATTTTCTTTATCCACTCATTGCTTGATGGGCAGTTAGGTTGGTTCCACATCTTTGCAATTGTGAGTTGTGCTGCTCCAGATATCATCTTTAACTCCTTTGCCTTCTCCACATACATTTCCAAGTCCTGTTCATTCTACCTCCAAAATGTATCTTGTATCCATTCATCTCTCTCCATCTTCAATCTATTTCAATGCCCCATCATCTCTTGCATGGAGGAGTGTAATAATTGGCTAACTGGCCTGTTCTTACATTTTAAAATCAAAAGATGTGACAGGTGAAATGCCTATTTCAGTGTCCATTGATGGTTCTGCTTACACACCACCTGGCTGCCTGGTGTCGCAGTGGCAGAGTTGAGCAGTGTGAAAAAGACTGCTTGGCCCTTTACAGGGAAAGCAGGTCCACTGTGGCCTGTGAGGACGAGAGCTCTGGGCAGGCTCGGACACTGGCAGACCCTGGTCCTGGCTGGCCAAGGCAGCAGGGTATGTGTTTCGGGTCACTCACAGGGCTCAGCACCACTCCTCATGGCTTCCTTACTGTTTCGGCAGAGGCTGACCCGCGGCTGATTGAGTCCCTCTCCCAGATGCTGTCCATGGGCTTCTCTGATGAAGGCGGCTGGCTCACCAGGCTCCTGCAGACCAAGAACTATGACATCGGAGCGGCTCTGGACACCATCCAGTATTCAAAGCATCCCCCGCCGTTGTGACCACTTTTGCCCACCTCTTCTGCGTGCCCCTCTTCTGTCTCATAGTTGTGTTAAGCTTGCGTAGAATTGCAGGTCTCTGTACGGGCCAGTTTCTCTGCCTTCTTCCAGGATCAGGGGTTAGGGTGCAAGAAGCCATTTAGGGCAGCAAAACAAGTGACATGAAGGGAGGGTCCCTGTGTGTGTGTGTGCTGATGTTTCCTGGGTGCCCTGGCTCCTTGCAGCAGGGCTGGGCCTGCGAGACCCAAGGCTCACTGCAGCGCGCTCCTGACCCCTCCCTGCAGGGGCTACGTTAGCAGCCCAGCACATAGCTTGCCTAATGGCTTTCACTTTCTCTTTTGTTTTAAATGACTCATAGGTCCCTGACATTTAGTTGATTATTTTCTGCTACAGACCTGGTACACTCTGATTTTAGATAAAGTAAGCCTAGGTGTTGTCAGCAGGCAGGCTGGGGAGGCCAGTGTTGTGGGCTTCCTGCTGGGACTGAGAAGGCTCACGAAGGGCATCCGCAATGTTGGTTTCACTGAGAGCTGCCTCCTGGTCTCTTCACCACTGTAGTTCTCTCATTTCCAAACCATCAGCTGCTTTTAAAATAAGATCTCTTTGTAGCCATCCTGTTAAATTTGTAAACAATCTAATTAAATGGCATCAGCACTTTAACCAATGACGTTTGCATAGAGAGAAATGATTGACAGTAAGTTTATTGTTAATGGTTCTTACAGAGTATCTTTAAAAGTGCCTTAGGGGAACCCTGTCCCTCCTAACAAGTGTATCTCGATTAATAACCTGCCAGTCCCAGATCACACATCATCATCGAAGTCTTCCCCAGTTATAAAGAGGTCACATAGTCGTGTGGGTCGAGGATTCTGTGCCTCCAGGACCAGGGGCCCACCCTCTGCCCAGGGAGTCCTTGCGTCCCATGAGGTCTTCCCGCAAGGCCTCTCAGACCCAGATGTGACGGGGTGTGTGGCCCGAGGAAGCTGGACAGCGGCAGTGGGCCTGCTGAGGCCTTCTCTTGAGGCCTGTGCTCTGGGGGTCCCTTGCTTAGCCTGTGCTGGACCAGCTGGCCTGGGGTCCCTCTGAAGAGACCTTGGCTGCTCACTGTCCACATGTGAACTTTTTCTAGGTGGCAGGACAAATTGCGCCCATTTAGAGGATGTGGCTGTAACCTGCTGGATGGGACTCCATAGCTCCTTCCCAGGACCCCTCAGCTCCCCGGCACTGCAGTCTGCAGAGTTCTCCTGGAGGCAGGGGCTGCTGCCTTGTTTCACCTTCCATGTCAGGCCAGCCTGTCCCTGAAAGAGAAGATGGCCATGCCCTCCATGTGTAAGAACAATGCCAGGGCCCAGGAGGACCGCCTGCCCTGCCTGGGCCTTGGCTGGGCCTCTGGTTCTGACACTTTCTGCTGGAAGCTGTCAGGCTGGGACAGGCTTTGATTTTGAGGGTTAGCAAGACAAAGCAAATAAATGCCTTCCACCTCACCGCAAACCTTCTGCTAAATTGCATGACCAGGCTTTCCAAAAACAAGACATTCTCATGTCATCAGGTGATCCATCTCCTGGGGACCTTAGAATCAGGTTACCGGTGCCTACAAAAGAATTTTGAGCAGAAGGGCCTCGAGACATCGGGAAAGGGGTGCGCTGGCTCCATTCTGCTACCTCCCACCGGGGGGCAGCTCTCCAGAGCCTGCCGGGTTCTGCAGCTGCAGAGGTGGCAGCACCGAGCTCCCTGTGGGATAGGACTGGTGCTGGGGTCTGGCTTCTCTCACCCCAGGAACCAAAGATGCTCTGAAAGTTGGGTGTCGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTAGATCACCTGAGGCCAGGAGTTCGAGATCAACCTGGCCAACATGGCGAAACCCTATCACTACTAAAAATACAAAAAT
TATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGCGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACGGGGTTGGGGGTAAGGTCACAGATCAACAGGATAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCCACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCCGCTTTCTATTCCACAAAGCCGCCATTGTCATCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACATCCCGGACGGGGTGGCTGCCGGGCGGAGGGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCACCTCCCGGATGGGGTCGCGGCCAGGCAGAGGCGCTCCTCACATCCCAGACAGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGTGGCCGGGCAGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATTCCAGACGATGGGCGGCCAGGCAGAGACGCTCCTCACTTCCCAGACGGGGTGGCGGCCGGGCAGAGGCTGCAATCTCGGCACTTTGGGAGGCTAAGGCAGGCAGCTGGGAGGTGGAGGTTGTAGCGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCACCATTGAGCACTGAGTGAACCAGACTCCGTCTGCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCGGATCACTCGTGGTTAGGAGCTGGAGACCAGCCCGGCCAACACAGCGAAACCCCGTCTCCACCAAAAAAACACGAAAACCAGTCAGTCGTGGCGGCGCGCACCTGCAATCGCAGGCACTCGGCAGGCTGAGGCAAGAGAATCAGGCAGGGAGGTTGCAGTGAGCCGAGATGGCAGCAGTACAGTCCAGCTTTGGCTCGGCATCAGAGGGAGACCGTGGAGAAAGAGGGAGAGGGAAAGCTATATCATTCTTATGTCTTTGCATCATCATAGCTTAGCATCTACTCATAAGTGAGAACATATGATATTTGGTATCCATTCCTGAATTACTTTACTTAGGATAATGGCCTCCAGCTCCGTCCAAGTTGCTGCAAAAGGTATTATTTCGTTCCTTTTTGTGGCTGAGTAGTATTCCATGGTGTATATATACCACATTTTCTTTATCCACTCATTGCTTGATGGGCAGTTAGGTTGGTTCCACATCTTTGCAATTGTGAGTTGTGCTGCTCCAGATATCATCTTTAACTCCTTTGCCTTCTCCACATACATTTCCAAGTCCTGTTCATTCTACCTCCAAAATGTATCTTGTATCCATTCATCTCTCTCCATCTTCAATCTATTTCAATGCCCCATCATCTCTTGCATGGAGGAGTGTAATAATTGGCTAACTGGCCTGTTCTTACATTTTAAAATCAAAAGATGTGACAGGTGAAATGCCTATTTCAGTGTCCATTGATGGTTCTGCTTACACACCACCTGGCTGCCTGGTGTCGCAGTGGCAGAGTTGAGCAGTGTGAAAAAGACTGCTTGGCCCTTTACAGGGAAAGCAGGTCCACTGTGGCCTGTGAGGACGAGAGCTCTGGGCAGGCTCGGACACTGGCAGACCCTGGTCCTGGCTGGCCAAGGCAGCAGGGTATGTGTTTCGGGTCACTCACAGGGCTCAGCACCACTCCTCATGGCTTCCTTACTGTTTCGGCAGAGGCTGACCCGCGGCTGATTGAGTCCCTCTCCCAGATGCTGTCCGTGGGCTTCTCTGATGAAGGCGGCTGGCTCACCAGGCTCCTGCAGACCAAGAACTATGACATCGGAGCGGCTCTGGACACCATCCAGTATTCAAAGCATCCCCCGCCGTTGTGACCACTTTTGCCCACCTCTTCTGCGTGCCCCTCTTCTGTCTCATAGTTGTGTTAAGCTTGCGTAGAATTGCAGGTCTCTGTACGGGCCAGTTTCTCTGCCTTCTTCCAGGATCAGGGGTTAGGGTGCAAGAAGCCATTTAGGGCAGCAAAACAAGTGACATGAAGGGAGGGTCCCTGTGTGTGTGTGTGCTGATGTTTCCTGGGTGCCCTGGCTCCTTGCAGCAGGGCTGGGCCTGCGAGACCCAAGGCTCACTGCAGCGCGCTCCTGACCCCTCCCTGCAGGGGCTACGTTAGCAGCCCAGCACATAGCTTGCCTAATGGCTTTCACTTTCTCTTTTGTTTTAAATGACTCATAGGTCCCTGACATTTAGTTGATTATTTTCTGCTACAGACCTGGTACACTCTGATTTTAGATAAAGTAAGCCTAGGTGTTGTCAGCAGGCAGGCTGGGGAGGCCAGTGTTGTGGGCTTCCTGCTGGGACTGAGAAGGCTCACGAAGGGCATCCGCAATGTTGGTTTCACTGAGAGCTGCCTCCTGGTCTCTTCACCACTGTAGTTCTCTCATTTCCAAACCATCAGCTGCTTTTAAAATAAGATCTCTTTGTAGCCATCCTGTTAAATTTGTAAACAATCTAATTAAATGGCATCAGCACTTTAACCAATGACGTTTGCATAGAGAGAAATGATTGACAGTAAGTTTATTGTTAATGGTTCTTACAGAGTATCTTTAAAAGTGCCTTAGGGGAACCCTGTCCCTCCTAACAAGTGTATCTCGATTAATAACCTGCCAGTCCCAGATCACACATCATCATCGAAGTCTTCCCCAGTTATAAAGAGGTCACATAGTCGTGTGGGTCGAGGATTCTGTGCCTCCAGGACCAGGGGCCCACCCTCTGCCCAGGGAGTCCTTGCGTCCCATGAGGTCTTCCCGCAAGGCCTCTCAGACCCAGATGTGACGGGGTGTGTGGCCCGAGGAAGCTGGACAGCGGCAGTGGGCCTGCTGAGGCCTTCTCTTGAGGCCTGTGCTCTGGGGGTCCCTTGCTTAGCCTGTGCTGGACCAGCTGGCCTGGGGTCCCTCTGAAGAGACCTTGGCTGCTCACTGTCCACATGTGAACTTTTTCTAGGTGGCAGGACAAATTGCGCCCATTTAGAGGATGTGGCTGTAACCTGCTGGATGGGACTCCATAGCTCCTTCCCAGGACCCCTCAGCTCCCCGGCACTGCAGTCTGCAGAGTTCTCCTGGAGGCAGGGGCTGCTGCCTTGTTTCACCTTCCATGTCAGGCCAGCCTGTCCCTGAAAGAGAAGATGGCCATGCCCTCCATGTGTAAGAACAATGCCAGGGCCCAGGAGGACCGCCTGCCCTGCCTGGGCCTTGGCTGGGCCTCTGGTTCTGACACTTTCTGCTGGAAGCTGTCAGGCTGGGACAGGCTTTGATTTTGAGGGTTAGCAAGACAAAGCAAATAAATGCCTTCCACCTCACCGCAAACCTTCTGCTAAATTGCATGACCAGGCTTTCCAAAAACAAGACATTCTCATGTCATCAGGTGATCCATCTCCTGGGGACCTTAGAATCAGGTTACCGGTGCCTACAAAAGAATTTTGAGCAGAAGGGCCTCGAGACATCGGGAAAGGGGTGCGCTGGCTCCATTCTGCTACCTCCCACCGGGGGGCAGCTCTCCAGAGCCTGCCGGGTTCTGCAGCTGCAGAGGTGGCAGCACCGAGCTCCCTGTGGGATAGGACTGGTGCTGGGGTCTGGCTTCTCTCACCCCAGGAACCAAAGATGCTCTGAAAGTTGGGTGTCGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTAGATCACCTGAGGCCAGGAGTTCGAGATCAACCTGGCCAACATGGCGAAACCCTATCACTACTAAAAATACAAAAAT
Task1_train_9915
This sequence change occurs on Chromosome 5, altering SQSTM1 (sequestosome 1). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
TATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGCGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACGGGGTTGGGGGTAAGGTCACAGATCAACAGGATAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCCACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCCGCTTTCTATTCCACAAAGCCGCCATTGTCATCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACATCCCGGACGGGGTGGCTGCCGGGCGGAGGGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCACCTCCCGGATGGGGTCGCGGCCAGGCAGAGGCGCTCCTCACATCCCAGACAGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGTGGCCGGGCAGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATTCCAGACGATGGGCGGCCAGGCAGAGACGCTCCTCACTTCCCAGACGGGGTGGCGGCCGGGCAGAGGCTGCAATCTCGGCACTTTGGGAGGCTAAGGCAGGCAGCTGGGAGGTGGAGGTTGTAGCGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCACCATTGAGCACTGAGTGAACCAGACTCCGTCTGCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCGGATCACTCGTGGTTAGGAGCTGGAGACCAGCCCGGCCAACACAGCGAAACCCCGTCTCCACCAAAAAAACACGAAAACCAGTCAGTCGTGGCGGCGCGCACCTGCAATCGCAGGCACTCGGCAGGCTGAGGCAAGAGAATCAGGCAGGGAGGTTGCAGTGAGCCGAGATGGCAGCAGTACAGTCCAGCTTTGGCTCGGCATCAGAGGGAGACCGTGGAGAAAGAGGGAGAGGGAAAGCTATATCATTCTTATGTCTTTGCATCATCATAGCTTAGCATCTACTCATAAGTGAGAACATATGATATTTGGTATCCATTCCTGAATTACTTTACTTAGGATAATGGCCTCCAGCTCCGTCCAAGTTGCTGCAAAAGGTATTATTTCGTTCCTTTTTGTGGCTGAGTAGTATTCCATGGTGTATATATACCACATTTTCTTTATCCACTCATTGCTTGATGGGCAGTTAGGTTGGTTCCACATCTTTGCAATTGTGAGTTGTGCTGCTCCAGATATCATCTTTAACTCCTTTGCCTTCTCCACATACATTTCCAAGTCCTGTTCATTCTACCTCCAAAATGTATCTTGTATCCATTCATCTCTCTCCATCTTCAATCTATTTCAATGCCCCATCATCTCTTGCATGGAGGAGTGTAATAATTGGCTAACTGGCCTGTTCTTACATTTTAAAATCAAAAGATGTGACAGGTGAAATGCCTATTTCAGTGTCCATTGATGGTTCTGCTTACACACCACCTGGCTGCCTGGTGTCGCAGTGGCAGAGTTGAGCAGTGTGAAAAAGACTGCTTGGCCCTTTACAGGGAAAGCAGGTCCACTGTGGCCTGTGAGGACGAGAGCTCTGGGCAGGCTCGGACACTGGCAGACCCTGGTCCTGGCTGGCCAAGGCAGCAGGGTATGTGTTTCGGGTCACTCACAGGGCTCAGCACCACTCCTCATGGCTTCCTTACTGTTTCGGCAGAGGCTGACCCGCGGCTGATTGAGTCCCTCTCCCAGATGCTGTCCATGGGCTTCTCTGATGAAGGCGGCTGGCTCACCAGGCTCCTGCAGACCAAGAACTATGACATCGGAGCGGCTCTGGACACCATCCAGTATTCAAAGCATCCCCCGCCGTTGTGACCACTTTTGCCCACCTCTTCTGCGTGCCCCTCTTCTGTCTCATAGTTGTGTTAAGCTTGCGTAGAATTGCAGGTCTCTGTACGGGCCAGTTTCTCTGCCTTCTTCCAGGATCAGGGGTTAGGGTGCAAGAAGCCATTTAGGGCAGCAAAACAAGTGACATGAAGGGAGGGTCCCTGTGTGTGTGTGTGCTGATGTTTCCTGGGTGCCCTGGCTCCTTGCAGCAGGGCTGGGCCTGCGAGACCCAAGGCTCACTGCAGCGCGCTCCTGACCCCTCCCTGCAGGGGCTACGTTAGCAGCCCAGCACATAGCTTGCCTAATGGCTTTCACTTTCTCTTTTGTTTTAAATGACTCATAGGTCCCTGACATTTAGTTGATTATTTTCTGCTACAGACCTGGTACACTCTGATTTTAGATAAAGTAAGCCTAGGTGTTGTCAGCAGGCAGGCTGGGGAGGCCAGTGTTGTGGGCTTCCTGCTGGGACTGAGAAGGCTCACGAAGGGCATCCGCAATGTTGGTTTCACTGAGAGCTGCCTCCTGGTCTCTTCACCACTGTAGTTCTCTCATTTCCAAACCATCAGCTGCTTTTAAAATAAGATCTCTTTGTAGCCATCCTGTTAAATTTGTAAACAATCTAATTAAATGGCATCAGCACTTTAACCAATGACGTTTGCATAGAGAGAAATGATTGACAGTAAGTTTATTGTTAATGGTTCTTACAGAGTATCTTTAAAAGTGCCTTAGGGGAACCCTGTCCCTCCTAACAAGTGTATCTCGATTAATAACCTGCCAGTCCCAGATCACACATCATCATCGAAGTCTTCCCCAGTTATAAAGAGGTCACATAGTCGTGTGGGTCGAGGATTCTGTGCCTCCAGGACCAGGGGCCCACCCTCTGCCCAGGGAGTCCTTGCGTCCCATGAGGTCTTCCCGCAAGGCCTCTCAGACCCAGATGTGACGGGGTGTGTGGCCCGAGGAAGCTGGACAGCGGCAGTGGGCCTGCTGAGGCCTTCTCTTGAGGCCTGTGCTCTGGGGGTCCCTTGCTTAGCCTGTGCTGGACCAGCTGGCCTGGGGTCCCTCTGAAGAGACCTTGGCTGCTCACTGTCCACATGTGAACTTTTTCTAGGTGGCAGGACAAATTGCGCCCATTTAGAGGATGTGGCTGTAACCTGCTGGATGGGACTCCATAGCTCCTTCCCAGGACCCCTCAGCTCCCCGGCACTGCAGTCTGCAGAGTTCTCCTGGAGGCAGGGGCTGCTGCCTTGTTTCACCTTCCATGTCAGGCCAGCCTGTCCCTGAAAGAGAAGATGGCCATGCCCTCCATGTGTAAGAACAATGCCAGGGCCCAGGAGGACCGCCTGCCCTGCCTGGGCCTTGGCTGGGCCTCTGGTTCTGACACTTTCTGCTGGAAGCTGTCAGGCTGGGACAGGCTTTGATTTTGAGGGTTAGCAAGACAAAGCAAATAAATGCCTTCCACCTCACCGCAAACCTTCTGCTAAATTGCATGACCAGGCTTTCCAAAAACAAGACATTCTCATGTCATCAGGTGATCCATCTCCTGGGGACCTTAGAATCAGGTTACCGGTGCCTACAAAAGAATTTTGAGCAGAAGGGCCTCGAGACATCGGGAAAGGGGTGCGCTGGCTCCATTCTGCTACCTCCCACCGGGGGGCAGCTCTCCAGAGCCTGCCGGGTTCTGCAGCTGCAGAGGTGGCAGCACCGAGCTCCCTGTGGGATAGGACTGGTGCTGGGGTCTGGCTTCTCTCACCCCAGGAACCAAAGATGCTCTGAAAGTTGGGTGTCGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTAGATCACCTGAGGCCAGGAGTTCGAGATCAACCTGGCCAACATGGCGAAACCCTATCACTACTAAAAATACAAAAAT
TATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGCGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACGGGGTTGGGGGTAAGGTCACAGATCAACAGGATAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCCACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCCGCTTTCTATTCCACAAAGCCGCCATTGTCATCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACATCCCGGACGGGGTGGCTGCCGGGCGGAGGGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCACCTCCCGGATGGGGTCGCGGCCAGGCAGAGGCGCTCCTCACATCCCAGACAGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGTGGCCGGGCAGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATTCCAGACGATGGGCGGCCAGGCAGAGACGCTCCTCACTTCCCAGACGGGGTGGCGGCCGGGCAGAGGCTGCAATCTCGGCACTTTGGGAGGCTAAGGCAGGCAGCTGGGAGGTGGAGGTTGTAGCGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCACCATTGAGCACTGAGTGAACCAGACTCCGTCTGCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCGGATCACTCGTGGTTAGGAGCTGGAGACCAGCCCGGCCAACACAGCGAAACCCCGTCTCCACCAAAAAAACACGAAAACCAGTCAGTCGTGGCGGCGCGCACCTGCAATCGCAGGCACTCGGCAGGCTGAGGCAAGAGAATCAGGCAGGGAGGTTGCAGTGAGCCGAGATGGCAGCAGTACAGTCCAGCTTTGGCTCGGCATCAGAGGGAGACCGTGGAGAAAGAGGGAGAGGGAAAGCTATATCATTCTTATGTCTTTGCATCATCATAGCTTAGCATCTACTCATAAGTGAGAACATATGATATTTGGTATCCATTCCTGAATTACTTTACTTAGGATAATGGCCTCCAGCTCCGTCCAAGTTGCTGCAAAAGGTATTATTTCGTTCCTTTTTGTGGCTGAGTAGTATTCCATGGTGTATATATACCACATTTTCTTTATCCACTCATTGCTTGATGGGCAGTTAGGTTGGTTCCACATCTTTGCAATTGTGAGTTGTGCTGCTCCAGATATCATCTTTAACTCCTTTGCCTTCTCCACATACATTTCCAAGTCCTGTTCATTCTACCTCCAAAATGTATCTTGTATCCATTCATCTCTCTCCATCTTCAATCTATTTCAATGCCCCATCATCTCTTGCATGGAGGAGTGTAATAATTGGCTAACTGGCCTGTTCTTACATTTTAAAATCAAAAGATGTGACAGGTGAAATGCCTATTTCAGTGTCCATTGATGGTTCTGCTTACACACCACCTGGCTGCCTGGTGTCGCAGTGGCAGAGTTGAGCAGTGTGAAAAAGACTGCTTGGCCCTTTACAGGGAAAGCAGGTCCACTGTGGCCTGTGAGGACGAGAGCTCTGGGCAGGCTCGGACACTGGCAGACCCTGGTCCTGGCTGGCCAAGGCAGCAGGGTATGTGTTTCGGGTCACTCACAGGGCTCAGCACCACTCCTCATGGCTTCCTTACTGTTTCGGCAGAGGCTGACCCGCGGCTGATTGAGTCCCTCTCCCAGATGCTGTCCGTGGGCTTCTCTGATGAAGGCGGCTGGCTCACCAGGCTCCTGCAGACCAAGAACTATGACATCGGAGCGGCTCTGGACACCATCCAGTATTCAAAGCATCCCCCGCCGTTGTGACCACTTTTGCCCACCTCTTCTGCGTGCCCCTCTTCTGTCTCATAGTTGTGTTAAGCTTGCGTAGAATTGCAGGTCTCTGTACGGGCCAGTTTCTCTGCCTTCTTCCAGGATCAGGGGTTAGGGTGCAAGAAGCCATTTAGGGCAGCAAAACAAGTGACATGAAGGGAGGGTCCCTGTGTGTGTGTGTGCTGATGTTTCCTGGGTGCCCTGGCTCCTTGCAGCAGGGCTGGGCCTGCGAGACCCAAGGCTCACTGCAGCGCGCTCCTGACCCCTCCCTGCAGGGGCTACGTTAGCAGCCCAGCACATAGCTTGCCTAATGGCTTTCACTTTCTCTTTTGTTTTAAATGACTCATAGGTCCCTGACATTTAGTTGATTATTTTCTGCTACAGACCTGGTACACTCTGATTTTAGATAAAGTAAGCCTAGGTGTTGTCAGCAGGCAGGCTGGGGAGGCCAGTGTTGTGGGCTTCCTGCTGGGACTGAGAAGGCTCACGAAGGGCATCCGCAATGTTGGTTTCACTGAGAGCTGCCTCCTGGTCTCTTCACCACTGTAGTTCTCTCATTTCCAAACCATCAGCTGCTTTTAAAATAAGATCTCTTTGTAGCCATCCTGTTAAATTTGTAAACAATCTAATTAAATGGCATCAGCACTTTAACCAATGACGTTTGCATAGAGAGAAATGATTGACAGTAAGTTTATTGTTAATGGTTCTTACAGAGTATCTTTAAAAGTGCCTTAGGGGAACCCTGTCCCTCCTAACAAGTGTATCTCGATTAATAACCTGCCAGTCCCAGATCACACATCATCATCGAAGTCTTCCCCAGTTATAAAGAGGTCACATAGTCGTGTGGGTCGAGGATTCTGTGCCTCCAGGACCAGGGGCCCACCCTCTGCCCAGGGAGTCCTTGCGTCCCATGAGGTCTTCCCGCAAGGCCTCTCAGACCCAGATGTGACGGGGTGTGTGGCCCGAGGAAGCTGGACAGCGGCAGTGGGCCTGCTGAGGCCTTCTCTTGAGGCCTGTGCTCTGGGGGTCCCTTGCTTAGCCTGTGCTGGACCAGCTGGCCTGGGGTCCCTCTGAAGAGACCTTGGCTGCTCACTGTCCACATGTGAACTTTTTCTAGGTGGCAGGACAAATTGCGCCCATTTAGAGGATGTGGCTGTAACCTGCTGGATGGGACTCCATAGCTCCTTCCCAGGACCCCTCAGCTCCCCGGCACTGCAGTCTGCAGAGTTCTCCTGGAGGCAGGGGCTGCTGCCTTGTTTCACCTTCCATGTCAGGCCAGCCTGTCCCTGAAAGAGAAGATGGCCATGCCCTCCATGTGTAAGAACAATGCCAGGGCCCAGGAGGACCGCCTGCCCTGCCTGGGCCTTGGCTGGGCCTCTGGTTCTGACACTTTCTGCTGGAAGCTGTCAGGCTGGGACAGGCTTTGATTTTGAGGGTTAGCAAGACAAAGCAAATAAATGCCTTCCACCTCACCGCAAACCTTCTGCTAAATTGCATGACCAGGCTTTCCAAAAACAAGACATTCTCATGTCATCAGGTGATCCATCTCCTGGGGACCTTAGAATCAGGTTACCGGTGCCTACAAAAGAATTTTGAGCAGAAGGGCCTCGAGACATCGGGAAAGGGGTGCGCTGGCTCCATTCTGCTACCTCCCACCGGGGGGCAGCTCTCCAGAGCCTGCCGGGTTCTGCAGCTGCAGAGGTGGCAGCACCGAGCTCCCTGTGGGATAGGACTGGTGCTGGGGTCTGGCTTCTCTCACCCCAGGAACCAAAGATGCTCTGAAAGTTGGGTGTCGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTAGATCACCTGAGGCCAGGAGTTCGAGATCAACCTGGCCAACATGGCGAAACCCTATCACTACTAAAAATACAAAAAT
Task1_train_9916
A genetic alteration is present in SQSTM1 (sequestosome 1) on Chromosome 5. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
ATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGCGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACGGGGTTGGGGGTAAGGTCACAGATCAACAGGATAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCCACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCCGCTTTCTATTCCACAAAGCCGCCATTGTCATCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACATCCCGGACGGGGTGGCTGCCGGGCGGAGGGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCACCTCCCGGATGGGGTCGCGGCCAGGCAGAGGCGCTCCTCACATCCCAGACAGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGTGGCCGGGCAGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATTCCAGACGATGGGCGGCCAGGCAGAGACGCTCCTCACTTCCCAGACGGGGTGGCGGCCGGGCAGAGGCTGCAATCTCGGCACTTTGGGAGGCTAAGGCAGGCAGCTGGGAGGTGGAGGTTGTAGCGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCACCATTGAGCACTGAGTGAACCAGACTCCGTCTGCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCGGATCACTCGTGGTTAGGAGCTGGAGACCAGCCCGGCCAACACAGCGAAACCCCGTCTCCACCAAAAAAACACGAAAACCAGTCAGTCGTGGCGGCGCGCACCTGCAATCGCAGGCACTCGGCAGGCTGAGGCAAGAGAATCAGGCAGGGAGGTTGCAGTGAGCCGAGATGGCAGCAGTACAGTCCAGCTTTGGCTCGGCATCAGAGGGAGACCGTGGAGAAAGAGGGAGAGGGAAAGCTATATCATTCTTATGTCTTTGCATCATCATAGCTTAGCATCTACTCATAAGTGAGAACATATGATATTTGGTATCCATTCCTGAATTACTTTACTTAGGATAATGGCCTCCAGCTCCGTCCAAGTTGCTGCAAAAGGTATTATTTCGTTCCTTTTTGTGGCTGAGTAGTATTCCATGGTGTATATATACCACATTTTCTTTATCCACTCATTGCTTGATGGGCAGTTAGGTTGGTTCCACATCTTTGCAATTGTGAGTTGTGCTGCTCCAGATATCATCTTTAACTCCTTTGCCTTCTCCACATACATTTCCAAGTCCTGTTCATTCTACCTCCAAAATGTATCTTGTATCCATTCATCTCTCTCCATCTTCAATCTATTTCAATGCCCCATCATCTCTTGCATGGAGGAGTGTAATAATTGGCTAACTGGCCTGTTCTTACATTTTAAAATCAAAAGATGTGACAGGTGAAATGCCTATTTCAGTGTCCATTGATGGTTCTGCTTACACACCACCTGGCTGCCTGGTGTCGCAGTGGCAGAGTTGAGCAGTGTGAAAAAGACTGCTTGGCCCTTTACAGGGAAAGCAGGTCCACTGTGGCCTGTGAGGACGAGAGCTCTGGGCAGGCTCGGACACTGGCAGACCCTGGTCCTGGCTGGCCAAGGCAGCAGGGTATGTGTTTCGGGTCACTCACAGGGCTCAGCACCACTCCTCATGGCTTCCTTACTGTTTCGGCAGAGGCTGACCCGCGGCTGATTGAGTCCCTCTCCCAGATGCTGTCCATGGGCTTCTCTGATGAAGGCGGCTGGCTCACCAGGCTCCTGCAGACCAAGAACTATGACATCGGAGCGGCTCTGGACACCATCCAGTATTCAAAGCATCCCCCGCCGTTGTGACCACTTTTGCCCACCTCTTCTGCGTGCCCCTCTTCTGTCTCATAGTTGTGTTAAGCTTGCGTAGAATTGCAGGTCTCTGTACGGGCCAGTTTCTCTGCCTTCTTCCAGGATCAGGGGTTAGGGTGCAAGAAGCCATTTAGGGCAGCAAAACAAGTGACATGAAGGGAGGGTCCCTGTGTGTGTGTGTGCTGATGTTTCCTGGGTGCCCTGGCTCCTTGCAGCAGGGCTGGGCCTGCGAGACCCAAGGCTCACTGCAGCGCGCTCCTGACCCCTCCCTGCAGGGGCTACGTTAGCAGCCCAGCACATAGCTTGCCTAATGGCTTTCACTTTCTCTTTTGTTTTAAATGACTCATAGGTCCCTGACATTTAGTTGATTATTTTCTGCTACAGACCTGGTACACTCTGATTTTAGATAAAGTAAGCCTAGGTGTTGTCAGCAGGCAGGCTGGGGAGGCCAGTGTTGTGGGCTTCCTGCTGGGACTGAGAAGGCTCACGAAGGGCATCCGCAATGTTGGTTTCACTGAGAGCTGCCTCCTGGTCTCTTCACCACTGTAGTTCTCTCATTTCCAAACCATCAGCTGCTTTTAAAATAAGATCTCTTTGTAGCCATCCTGTTAAATTTGTAAACAATCTAATTAAATGGCATCAGCACTTTAACCAATGACGTTTGCATAGAGAGAAATGATTGACAGTAAGTTTATTGTTAATGGTTCTTACAGAGTATCTTTAAAAGTGCCTTAGGGGAACCCTGTCCCTCCTAACAAGTGTATCTCGATTAATAACCTGCCAGTCCCAGATCACACATCATCATCGAAGTCTTCCCCAGTTATAAAGAGGTCACATAGTCGTGTGGGTCGAGGATTCTGTGCCTCCAGGACCAGGGGCCCACCCTCTGCCCAGGGAGTCCTTGCGTCCCATGAGGTCTTCCCGCAAGGCCTCTCAGACCCAGATGTGACGGGGTGTGTGGCCCGAGGAAGCTGGACAGCGGCAGTGGGCCTGCTGAGGCCTTCTCTTGAGGCCTGTGCTCTGGGGGTCCCTTGCTTAGCCTGTGCTGGACCAGCTGGCCTGGGGTCCCTCTGAAGAGACCTTGGCTGCTCACTGTCCACATGTGAACTTTTTCTAGGTGGCAGGACAAATTGCGCCCATTTAGAGGATGTGGCTGTAACCTGCTGGATGGGACTCCATAGCTCCTTCCCAGGACCCCTCAGCTCCCCGGCACTGCAGTCTGCAGAGTTCTCCTGGAGGCAGGGGCTGCTGCCTTGTTTCACCTTCCATGTCAGGCCAGCCTGTCCCTGAAAGAGAAGATGGCCATGCCCTCCATGTGTAAGAACAATGCCAGGGCCCAGGAGGACCGCCTGCCCTGCCTGGGCCTTGGCTGGGCCTCTGGTTCTGACACTTTCTGCTGGAAGCTGTCAGGCTGGGACAGGCTTTGATTTTGAGGGTTAGCAAGACAAAGCAAATAAATGCCTTCCACCTCACCGCAAACCTTCTGCTAAATTGCATGACCAGGCTTTCCAAAAACAAGACATTCTCATGTCATCAGGTGATCCATCTCCTGGGGACCTTAGAATCAGGTTACCGGTGCCTACAAAAGAATTTTGAGCAGAAGGGCCTCGAGACATCGGGAAAGGGGTGCGCTGGCTCCATTCTGCTACCTCCCACCGGGGGGCAGCTCTCCAGAGCCTGCCGGGTTCTGCAGCTGCAGAGGTGGCAGCACCGAGCTCCCTGTGGGATAGGACTGGTGCTGGGGTCTGGCTTCTCTCACCCCAGGAACCAAAGATGCTCTGAAAGTTGGGTGTCGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTAGATCACCTGAGGCCAGGAGTTCGAGATCAACCTGGCCAACATGGCGAAACCCTATCACTACTAAAAATACAAAAATT
ATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGCGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACGGGGTTGGGGGTAAGGTCACAGATCAACAGGATAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCCACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCCGCTTTCTATTCCACAAAGCCGCCATTGTCATCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACATCCCGGACGGGGTGGCTGCCGGGCGGAGGGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCACCTCCCGGATGGGGTCGCGGCCAGGCAGAGGCGCTCCTCACATCCCAGACAGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGTGGCCGGGCAGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATTCCAGACGATGGGCGGCCAGGCAGAGACGCTCCTCACTTCCCAGACGGGGTGGCGGCCGGGCAGAGGCTGCAATCTCGGCACTTTGGGAGGCTAAGGCAGGCAGCTGGGAGGTGGAGGTTGTAGCGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCACCATTGAGCACTGAGTGAACCAGACTCCGTCTGCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCGGATCACTCGTGGTTAGGAGCTGGAGACCAGCCCGGCCAACACAGCGAAACCCCGTCTCCACCAAAAAAACACGAAAACCAGTCAGTCGTGGCGGCGCGCACCTGCAATCGCAGGCACTCGGCAGGCTGAGGCAAGAGAATCAGGCAGGGAGGTTGCAGTGAGCCGAGATGGCAGCAGTACAGTCCAGCTTTGGCTCGGCATCAGAGGGAGACCGTGGAGAAAGAGGGAGAGGGAAAGCTATATCATTCTTATGTCTTTGCATCATCATAGCTTAGCATCTACTCATAAGTGAGAACATATGATATTTGGTATCCATTCCTGAATTACTTTACTTAGGATAATGGCCTCCAGCTCCGTCCAAGTTGCTGCAAAAGGTATTATTTCGTTCCTTTTTGTGGCTGAGTAGTATTCCATGGTGTATATATACCACATTTTCTTTATCCACTCATTGCTTGATGGGCAGTTAGGTTGGTTCCACATCTTTGCAATTGTGAGTTGTGCTGCTCCAGATATCATCTTTAACTCCTTTGCCTTCTCCACATACATTTCCAAGTCCTGTTCATTCTACCTCCAAAATGTATCTTGTATCCATTCATCTCTCTCCATCTTCAATCTATTTCAATGCCCCATCATCTCTTGCATGGAGGAGTGTAATAATTGGCTAACTGGCCTGTTCTTACATTTTAAAATCAAAAGATGTGACAGGTGAAATGCCTATTTCAGTGTCCATTGATGGTTCTGCTTACACACCACCTGGCTGCCTGGTGTCGCAGTGGCAGAGTTGAGCAGTGTGAAAAAGACTGCTTGGCCCTTTACAGGGAAAGCAGGTCCACTGTGGCCTGTGAGGACGAGAGCTCTGGGCAGGCTCGGACACTGGCAGACCCTGGTCCTGGCTGGCCAAGGCAGCAGGGTATGTGTTTCGGGTCACTCACAGGGCTCAGCACCACTCCTCATGGCTTCCTTACTGTTTCGGCAGAGGCTGACCCGCGGCTGATTGAGTCCCTCTCCCAGATGCTGTCCACGGGCTTCTCTGATGAAGGCGGCTGGCTCACCAGGCTCCTGCAGACCAAGAACTATGACATCGGAGCGGCTCTGGACACCATCCAGTATTCAAAGCATCCCCCGCCGTTGTGACCACTTTTGCCCACCTCTTCTGCGTGCCCCTCTTCTGTCTCATAGTTGTGTTAAGCTTGCGTAGAATTGCAGGTCTCTGTACGGGCCAGTTTCTCTGCCTTCTTCCAGGATCAGGGGTTAGGGTGCAAGAAGCCATTTAGGGCAGCAAAACAAGTGACATGAAGGGAGGGTCCCTGTGTGTGTGTGTGCTGATGTTTCCTGGGTGCCCTGGCTCCTTGCAGCAGGGCTGGGCCTGCGAGACCCAAGGCTCACTGCAGCGCGCTCCTGACCCCTCCCTGCAGGGGCTACGTTAGCAGCCCAGCACATAGCTTGCCTAATGGCTTTCACTTTCTCTTTTGTTTTAAATGACTCATAGGTCCCTGACATTTAGTTGATTATTTTCTGCTACAGACCTGGTACACTCTGATTTTAGATAAAGTAAGCCTAGGTGTTGTCAGCAGGCAGGCTGGGGAGGCCAGTGTTGTGGGCTTCCTGCTGGGACTGAGAAGGCTCACGAAGGGCATCCGCAATGTTGGTTTCACTGAGAGCTGCCTCCTGGTCTCTTCACCACTGTAGTTCTCTCATTTCCAAACCATCAGCTGCTTTTAAAATAAGATCTCTTTGTAGCCATCCTGTTAAATTTGTAAACAATCTAATTAAATGGCATCAGCACTTTAACCAATGACGTTTGCATAGAGAGAAATGATTGACAGTAAGTTTATTGTTAATGGTTCTTACAGAGTATCTTTAAAAGTGCCTTAGGGGAACCCTGTCCCTCCTAACAAGTGTATCTCGATTAATAACCTGCCAGTCCCAGATCACACATCATCATCGAAGTCTTCCCCAGTTATAAAGAGGTCACATAGTCGTGTGGGTCGAGGATTCTGTGCCTCCAGGACCAGGGGCCCACCCTCTGCCCAGGGAGTCCTTGCGTCCCATGAGGTCTTCCCGCAAGGCCTCTCAGACCCAGATGTGACGGGGTGTGTGGCCCGAGGAAGCTGGACAGCGGCAGTGGGCCTGCTGAGGCCTTCTCTTGAGGCCTGTGCTCTGGGGGTCCCTTGCTTAGCCTGTGCTGGACCAGCTGGCCTGGGGTCCCTCTGAAGAGACCTTGGCTGCTCACTGTCCACATGTGAACTTTTTCTAGGTGGCAGGACAAATTGCGCCCATTTAGAGGATGTGGCTGTAACCTGCTGGATGGGACTCCATAGCTCCTTCCCAGGACCCCTCAGCTCCCCGGCACTGCAGTCTGCAGAGTTCTCCTGGAGGCAGGGGCTGCTGCCTTGTTTCACCTTCCATGTCAGGCCAGCCTGTCCCTGAAAGAGAAGATGGCCATGCCCTCCATGTGTAAGAACAATGCCAGGGCCCAGGAGGACCGCCTGCCCTGCCTGGGCCTTGGCTGGGCCTCTGGTTCTGACACTTTCTGCTGGAAGCTGTCAGGCTGGGACAGGCTTTGATTTTGAGGGTTAGCAAGACAAAGCAAATAAATGCCTTCCACCTCACCGCAAACCTTCTGCTAAATTGCATGACCAGGCTTTCCAAAAACAAGACATTCTCATGTCATCAGGTGATCCATCTCCTGGGGACCTTAGAATCAGGTTACCGGTGCCTACAAAAGAATTTTGAGCAGAAGGGCCTCGAGACATCGGGAAAGGGGTGCGCTGGCTCCATTCTGCTACCTCCCACCGGGGGGCAGCTCTCCAGAGCCTGCCGGGTTCTGCAGCTGCAGAGGTGGCAGCACCGAGCTCCCTGTGGGATAGGACTGGTGCTGGGGTCTGGCTTCTCTCACCCCAGGAACCAAAGATGCTCTGAAAGTTGGGTGTCGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTAGATCACCTGAGGCCAGGAGTTCGAGATCAACCTGGCCAACATGGCGAAACCCTATCACTACTAAAAATACAAAAATT
Task1_train_9917
Given this context: Chromosome 5, gene SQSTM1 (sequestosome 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Paget disease of bone 2, early-onset
ATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGCGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACGGGGTTGGGGGTAAGGTCACAGATCAACAGGATAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCCACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCCGCTTTCTATTCCACAAAGCCGCCATTGTCATCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACATCCCGGACGGGGTGGCTGCCGGGCGGAGGGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCACCTCCCGGATGGGGTCGCGGCCAGGCAGAGGCGCTCCTCACATCCCAGACAGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGTGGCCGGGCAGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATTCCAGACGATGGGCGGCCAGGCAGAGACGCTCCTCACTTCCCAGACGGGGTGGCGGCCGGGCAGAGGCTGCAATCTCGGCACTTTGGGAGGCTAAGGCAGGCAGCTGGGAGGTGGAGGTTGTAGCGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCACCATTGAGCACTGAGTGAACCAGACTCCGTCTGCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCGGATCACTCGTGGTTAGGAGCTGGAGACCAGCCCGGCCAACACAGCGAAACCCCGTCTCCACCAAAAAAACACGAAAACCAGTCAGTCGTGGCGGCGCGCACCTGCAATCGCAGGCACTCGGCAGGCTGAGGCAAGAGAATCAGGCAGGGAGGTTGCAGTGAGCCGAGATGGCAGCAGTACAGTCCAGCTTTGGCTCGGCATCAGAGGGAGACCGTGGAGAAAGAGGGAGAGGGAAAGCTATATCATTCTTATGTCTTTGCATCATCATAGCTTAGCATCTACTCATAAGTGAGAACATATGATATTTGGTATCCATTCCTGAATTACTTTACTTAGGATAATGGCCTCCAGCTCCGTCCAAGTTGCTGCAAAAGGTATTATTTCGTTCCTTTTTGTGGCTGAGTAGTATTCCATGGTGTATATATACCACATTTTCTTTATCCACTCATTGCTTGATGGGCAGTTAGGTTGGTTCCACATCTTTGCAATTGTGAGTTGTGCTGCTCCAGATATCATCTTTAACTCCTTTGCCTTCTCCACATACATTTCCAAGTCCTGTTCATTCTACCTCCAAAATGTATCTTGTATCCATTCATCTCTCTCCATCTTCAATCTATTTCAATGCCCCATCATCTCTTGCATGGAGGAGTGTAATAATTGGCTAACTGGCCTGTTCTTACATTTTAAAATCAAAAGATGTGACAGGTGAAATGCCTATTTCAGTGTCCATTGATGGTTCTGCTTACACACCACCTGGCTGCCTGGTGTCGCAGTGGCAGAGTTGAGCAGTGTGAAAAAGACTGCTTGGCCCTTTACAGGGAAAGCAGGTCCACTGTGGCCTGTGAGGACGAGAGCTCTGGGCAGGCTCGGACACTGGCAGACCCTGGTCCTGGCTGGCCAAGGCAGCAGGGTATGTGTTTCGGGTCACTCACAGGGCTCAGCACCACTCCTCATGGCTTCCTTACTGTTTCGGCAGAGGCTGACCCGCGGCTGATTGAGTCCCTCTCCCAGATGCTGTCCATGGGCTTCTCTGATGAAGGCGGCTGGCTCACCAGGCTCCTGCAGACCAAGAACTATGACATCGGAGCGGCTCTGGACACCATCCAGTATTCAAAGCATCCCCCGCCGTTGTGACCACTTTTGCCCACCTCTTCTGCGTGCCCCTCTTCTGTCTCATAGTTGTGTTAAGCTTGCGTAGAATTGCAGGTCTCTGTACGGGCCAGTTTCTCTGCCTTCTTCCAGGATCAGGGGTTAGGGTGCAAGAAGCCATTTAGGGCAGCAAAACAAGTGACATGAAGGGAGGGTCCCTGTGTGTGTGTGTGCTGATGTTTCCTGGGTGCCCTGGCTCCTTGCAGCAGGGCTGGGCCTGCGAGACCCAAGGCTCACTGCAGCGCGCTCCTGACCCCTCCCTGCAGGGGCTACGTTAGCAGCCCAGCACATAGCTTGCCTAATGGCTTTCACTTTCTCTTTTGTTTTAAATGACTCATAGGTCCCTGACATTTAGTTGATTATTTTCTGCTACAGACCTGGTACACTCTGATTTTAGATAAAGTAAGCCTAGGTGTTGTCAGCAGGCAGGCTGGGGAGGCCAGTGTTGTGGGCTTCCTGCTGGGACTGAGAAGGCTCACGAAGGGCATCCGCAATGTTGGTTTCACTGAGAGCTGCCTCCTGGTCTCTTCACCACTGTAGTTCTCTCATTTCCAAACCATCAGCTGCTTTTAAAATAAGATCTCTTTGTAGCCATCCTGTTAAATTTGTAAACAATCTAATTAAATGGCATCAGCACTTTAACCAATGACGTTTGCATAGAGAGAAATGATTGACAGTAAGTTTATTGTTAATGGTTCTTACAGAGTATCTTTAAAAGTGCCTTAGGGGAACCCTGTCCCTCCTAACAAGTGTATCTCGATTAATAACCTGCCAGTCCCAGATCACACATCATCATCGAAGTCTTCCCCAGTTATAAAGAGGTCACATAGTCGTGTGGGTCGAGGATTCTGTGCCTCCAGGACCAGGGGCCCACCCTCTGCCCAGGGAGTCCTTGCGTCCCATGAGGTCTTCCCGCAAGGCCTCTCAGACCCAGATGTGACGGGGTGTGTGGCCCGAGGAAGCTGGACAGCGGCAGTGGGCCTGCTGAGGCCTTCTCTTGAGGCCTGTGCTCTGGGGGTCCCTTGCTTAGCCTGTGCTGGACCAGCTGGCCTGGGGTCCCTCTGAAGAGACCTTGGCTGCTCACTGTCCACATGTGAACTTTTTCTAGGTGGCAGGACAAATTGCGCCCATTTAGAGGATGTGGCTGTAACCTGCTGGATGGGACTCCATAGCTCCTTCCCAGGACCCCTCAGCTCCCCGGCACTGCAGTCTGCAGAGTTCTCCTGGAGGCAGGGGCTGCTGCCTTGTTTCACCTTCCATGTCAGGCCAGCCTGTCCCTGAAAGAGAAGATGGCCATGCCCTCCATGTGTAAGAACAATGCCAGGGCCCAGGAGGACCGCCTGCCCTGCCTGGGCCTTGGCTGGGCCTCTGGTTCTGACACTTTCTGCTGGAAGCTGTCAGGCTGGGACAGGCTTTGATTTTGAGGGTTAGCAAGACAAAGCAAATAAATGCCTTCCACCTCACCGCAAACCTTCTGCTAAATTGCATGACCAGGCTTTCCAAAAACAAGACATTCTCATGTCATCAGGTGATCCATCTCCTGGGGACCTTAGAATCAGGTTACCGGTGCCTACAAAAGAATTTTGAGCAGAAGGGCCTCGAGACATCGGGAAAGGGGTGCGCTGGCTCCATTCTGCTACCTCCCACCGGGGGGCAGCTCTCCAGAGCCTGCCGGGTTCTGCAGCTGCAGAGGTGGCAGCACCGAGCTCCCTGTGGGATAGGACTGGTGCTGGGGTCTGGCTTCTCTCACCCCAGGAACCAAAGATGCTCTGAAAGTTGGGTGTCGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTAGATCACCTGAGGCCAGGAGTTCGAGATCAACCTGGCCAACATGGCGAAACCCTATCACTACTAAAAATACAAAAATT
ATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGCGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACGGGGTTGGGGGTAAGGTCACAGATCAACAGGATAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCCACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCCGCTTTCTATTCCACAAAGCCGCCATTGTCATCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACATCCCGGACGGGGTGGCTGCCGGGCGGAGGGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCACCTCCCGGATGGGGTCGCGGCCAGGCAGAGGCGCTCCTCACATCCCAGACAGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGTGGCCGGGCAGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATTCCAGACGATGGGCGGCCAGGCAGAGACGCTCCTCACTTCCCAGACGGGGTGGCGGCCGGGCAGAGGCTGCAATCTCGGCACTTTGGGAGGCTAAGGCAGGCAGCTGGGAGGTGGAGGTTGTAGCGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCACCATTGAGCACTGAGTGAACCAGACTCCGTCTGCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCGGATCACTCGTGGTTAGGAGCTGGAGACCAGCCCGGCCAACACAGCGAAACCCCGTCTCCACCAAAAAAACACGAAAACCAGTCAGTCGTGGCGGCGCGCACCTGCAATCGCAGGCACTCGGCAGGCTGAGGCAAGAGAATCAGGCAGGGAGGTTGCAGTGAGCCGAGATGGCAGCAGTACAGTCCAGCTTTGGCTCGGCATCAGAGGGAGACCGTGGAGAAAGAGGGAGAGGGAAAGCTATATCATTCTTATGTCTTTGCATCATCATAGCTTAGCATCTACTCATAAGTGAGAACATATGATATTTGGTATCCATTCCTGAATTACTTTACTTAGGATAATGGCCTCCAGCTCCGTCCAAGTTGCTGCAAAAGGTATTATTTCGTTCCTTTTTGTGGCTGAGTAGTATTCCATGGTGTATATATACCACATTTTCTTTATCCACTCATTGCTTGATGGGCAGTTAGGTTGGTTCCACATCTTTGCAATTGTGAGTTGTGCTGCTCCAGATATCATCTTTAACTCCTTTGCCTTCTCCACATACATTTCCAAGTCCTGTTCATTCTACCTCCAAAATGTATCTTGTATCCATTCATCTCTCTCCATCTTCAATCTATTTCAATGCCCCATCATCTCTTGCATGGAGGAGTGTAATAATTGGCTAACTGGCCTGTTCTTACATTTTAAAATCAAAAGATGTGACAGGTGAAATGCCTATTTCAGTGTCCATTGATGGTTCTGCTTACACACCACCTGGCTGCCTGGTGTCGCAGTGGCAGAGTTGAGCAGTGTGAAAAAGACTGCTTGGCCCTTTACAGGGAAAGCAGGTCCACTGTGGCCTGTGAGGACGAGAGCTCTGGGCAGGCTCGGACACTGGCAGACCCTGGTCCTGGCTGGCCAAGGCAGCAGGGTATGTGTTTCGGGTCACTCACAGGGCTCAGCACCACTCCTCATGGCTTCCTTACTGTTTCGGCAGAGGCTGACCCGCGGCTGATTGAGTCCCTCTCCCAGATGCTGTCCACGGGCTTCTCTGATGAAGGCGGCTGGCTCACCAGGCTCCTGCAGACCAAGAACTATGACATCGGAGCGGCTCTGGACACCATCCAGTATTCAAAGCATCCCCCGCCGTTGTGACCACTTTTGCCCACCTCTTCTGCGTGCCCCTCTTCTGTCTCATAGTTGTGTTAAGCTTGCGTAGAATTGCAGGTCTCTGTACGGGCCAGTTTCTCTGCCTTCTTCCAGGATCAGGGGTTAGGGTGCAAGAAGCCATTTAGGGCAGCAAAACAAGTGACATGAAGGGAGGGTCCCTGTGTGTGTGTGTGCTGATGTTTCCTGGGTGCCCTGGCTCCTTGCAGCAGGGCTGGGCCTGCGAGACCCAAGGCTCACTGCAGCGCGCTCCTGACCCCTCCCTGCAGGGGCTACGTTAGCAGCCCAGCACATAGCTTGCCTAATGGCTTTCACTTTCTCTTTTGTTTTAAATGACTCATAGGTCCCTGACATTTAGTTGATTATTTTCTGCTACAGACCTGGTACACTCTGATTTTAGATAAAGTAAGCCTAGGTGTTGTCAGCAGGCAGGCTGGGGAGGCCAGTGTTGTGGGCTTCCTGCTGGGACTGAGAAGGCTCACGAAGGGCATCCGCAATGTTGGTTTCACTGAGAGCTGCCTCCTGGTCTCTTCACCACTGTAGTTCTCTCATTTCCAAACCATCAGCTGCTTTTAAAATAAGATCTCTTTGTAGCCATCCTGTTAAATTTGTAAACAATCTAATTAAATGGCATCAGCACTTTAACCAATGACGTTTGCATAGAGAGAAATGATTGACAGTAAGTTTATTGTTAATGGTTCTTACAGAGTATCTTTAAAAGTGCCTTAGGGGAACCCTGTCCCTCCTAACAAGTGTATCTCGATTAATAACCTGCCAGTCCCAGATCACACATCATCATCGAAGTCTTCCCCAGTTATAAAGAGGTCACATAGTCGTGTGGGTCGAGGATTCTGTGCCTCCAGGACCAGGGGCCCACCCTCTGCCCAGGGAGTCCTTGCGTCCCATGAGGTCTTCCCGCAAGGCCTCTCAGACCCAGATGTGACGGGGTGTGTGGCCCGAGGAAGCTGGACAGCGGCAGTGGGCCTGCTGAGGCCTTCTCTTGAGGCCTGTGCTCTGGGGGTCCCTTGCTTAGCCTGTGCTGGACCAGCTGGCCTGGGGTCCCTCTGAAGAGACCTTGGCTGCTCACTGTCCACATGTGAACTTTTTCTAGGTGGCAGGACAAATTGCGCCCATTTAGAGGATGTGGCTGTAACCTGCTGGATGGGACTCCATAGCTCCTTCCCAGGACCCCTCAGCTCCCCGGCACTGCAGTCTGCAGAGTTCTCCTGGAGGCAGGGGCTGCTGCCTTGTTTCACCTTCCATGTCAGGCCAGCCTGTCCCTGAAAGAGAAGATGGCCATGCCCTCCATGTGTAAGAACAATGCCAGGGCCCAGGAGGACCGCCTGCCCTGCCTGGGCCTTGGCTGGGCCTCTGGTTCTGACACTTTCTGCTGGAAGCTGTCAGGCTGGGACAGGCTTTGATTTTGAGGGTTAGCAAGACAAAGCAAATAAATGCCTTCCACCTCACCGCAAACCTTCTGCTAAATTGCATGACCAGGCTTTCCAAAAACAAGACATTCTCATGTCATCAGGTGATCCATCTCCTGGGGACCTTAGAATCAGGTTACCGGTGCCTACAAAAGAATTTTGAGCAGAAGGGCCTCGAGACATCGGGAAAGGGGTGCGCTGGCTCCATTCTGCTACCTCCCACCGGGGGGCAGCTCTCCAGAGCCTGCCGGGTTCTGCAGCTGCAGAGGTGGCAGCACCGAGCTCCCTGTGGGATAGGACTGGTGCTGGGGTCTGGCTTCTCTCACCCCAGGAACCAAAGATGCTCTGAAAGTTGGGTGTCGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTAGATCACCTGAGGCCAGGAGTTCGAGATCAACCTGGCCAACATGGCGAAACCCTATCACTACTAAAAATACAAAAATT
Task1_train_9918
A genetic alteration is present in FLT4 (fms related receptor tyrosine kinase 4) on Chromosome 5. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; not provided
TCTCAAAAAAATAAATAAATAAATAAAAAGTACCCTTGATGTTGGGGTGAGGGGACACTGGTGGGTGGACAGGACTCAAAAACAAGCACGCAGCCAGGCCACACGGCCGTGGAAGGACCCTGCAGTGGGTCATTTAAAGCCACTCTGTGCTCTGAGTTTGTGCACACTGGCCTCTGACGTCGCATGATTTGCTTTTCCCCGATGACGCAGAGGGATAAAATGCACCTTGTCCACATGGCTTTCTCCCACCCTACTCCTGGACCTGCAGGACAGCTGACCTGGCGGCCAGGCTGTGGCGCTGCAGGCTTGGCGGGCTGTCCTCAGCGTCAGCCTGGGCGATGTGTAGGGCCATGGTGGACACCTGCGAGAAGCTGCCCTCTTCTGAGCTCTGAGAGCTGCGCGGGGCCATGCAGACCTCCTCTTCCTCCTGGCGGGAACAGGAGAGGCAGCCAGGCCAGAAACCACCAGCCACTGCCCTCAGCCCTCGCCCCCACCCTCAGCCCTCACCCCCGCCCTCAGCCCTCACCCCCGCCCTCAGCCCTCGCCCCCGCACTCAGCTCTCGCCCCCGCCCTCGCCCTGCCCTCAGCCCTCGCTCTGCCCTCGGGACTGCTTGGGCTCCTGACCCCTGAGATAGGGCCCTAACAGACCATGCGGGCACGTGAGTGCTCCACAGAGGAAACGAGCTCATGCCAGAAACCAGCACATCTCAGCCATCAAGACAGATAAGGGGTCAAGGTAGCAGAATGCTGGCTGTGCCAGCCTCGCTAAGTTCTCCCAACAGCCCTTCCAGGTACATTTATGGATGAGGCAGGTGGGGCAGGCTGGGGCTCAGCCGGATCATCCCTCCTCCAGTCCCTAGCTGAGCTGGCAGCCTCAGGAACTGGGGCCAGCACTCCCTACCTTCTTCTTTGGATGGAACTAGACCCGCAGCACCCATCCCAGTCCCTAAGGCCTGGGCAACAGGCCACCCCCTGCTTCTTGCTCCAGGCCCCACCTTGAGCTGGGTCACAAGCCGGCTCCATCCCCCACCCTGGAGGAGCACCACGTGGGGAGGGAGAGATGTCAGCACACACAGGTCAAGGGTCCGTGTGTTCAGTGGAGTGGGGGACAGAACTGGCACCAGGTGAAGGAATACATCATGACGATGCCAGGGAGATGGGGCTGCCTCACAGGCCGGGGGGGACCAGCCTAGGATTCCCCTCGCGCAGGGACAGGCTCTGACTATCCACACAGCACCTGGAGCAGGCAGTGGAGCTGTGCAGCGGGTGTGTACTCAACAGAAAGATGCAAGGGTGTGGGGACGAGGTGTGGATAGGGGCCCAGGACCCCACCACCCTAGCCTAGCAGCTGAGAGGTGGGCAGAGCCTAGATGGGCTTGGAGGGGCAGCTCGGGCCAGGGACCCAGGGCAGGGGCCAAAGGCCATAGTAGAACAGGGTGGGGAAGGGGCTCACTTGCAGGCCCCTGCCCTGGAGCAGGTCCCCCAGGATCTCCACCAGCTCCGAGAATGCAGGTCTCGCCTTGGGGTCTCCGGACCAGCAGTTCAGCATGATGCGGCGTCTGCAGGATCACGTGGGCTGCTGGACTGCATGCACCCCACCCCCGTCCCAGGACCTTCAGTGCCCCAGCCTTCCTGGGCCCTCTCACCCACTCTGCCCTCCTCCTGACACGTCTCCCACTCTTGTCCAGCTACCCTCGTTCCTCCTTCAAGTGTTAGCCCAGCGTCCCCTCCTGGTGATGCTTTCCCTGAACACTCGGCTCTGTTCCGACAGCGCCCGGCCTTCCCTCCTGGTGTCCTCCTGGTGCAGCTGTGCTACAGACTACCCGTGTATCTTGAGGGTGGTGCCCAGGCCTGTCCTACTGGCCCTGGCTTCCCTGATGCCACCTTCTCATGGACACAACCCCCACGCCCCCGACGCTTGCTGTCCCCAAAACCTGCAGGGCCATGGGGAGGCTCACATGGCGGGAGTGGCCAGCTCCGGGGCCCTCATCCTTGTGCCGTCTCTCAGCCGCTGGCAGAACTCCTCATTGATCTGCACCCCAGGGTACGGGGAGGCCCCTGACAACAGGAAGGGGAGGTGGGTGGGGAGCAAGCCTCCTGCGGCTCAGCCCAGCCCCCCAAGTCACCCCATCCTGTCCCTTCCCCATCAAGTCACCCCGTCCTGTCCCTTTCCCCATCCGTGGTGGGGTGGAGATGGCTCACCCGACTGTGCTCTACCTGGGACCTGTGGGCAAGTCGCTGCCCTCCCCAGCTCTAGTTCATTTGGTTAAAAGAGGACTGTGCCGCCTGCTTGCTAGGGGTGCCAAGAGCATCCACCCACTGGCGACACGGTAGACATCATGGTTACTGGATCATCAGCGGCGGGGGAGCCGCCTGCAGGCAGTTTCAACAAAGCCTCTCTTGCTTCTCGCTGCTTCTCCTGCTGCTCCCCCCAACCCCTGCTGCTCCCCCCAACCCCTGCTGCTCCTCCCAACCCCTGCTGCTCCCCGTCCTGGACTGCTGAACTCCCTCCTTGGGCCCCTCTGGCTTACCCGAGCTCCCACGCCTCCTACACTCTTCCTGCTCCTTTAGTTTCCGCAGTAGCGTGGATCAGTTGCCACTTGGTGACATTTTAACTTTTTCAAGTTCACTGCCCTACCCTGGCCTGGAGACTTCATCATGCTCGCAGCGGGGCCTGAGTTCCCACATGGAGCTCTTGGAGCTCTTGGAGTAGGCACGTCTGCTGACTGGGCACTGAGCTCCCTCTGGGGCTGCCATGTGAAAAGGCTCAGTCCTGGCTCAGGCTTCAATGTGCACCCCACAGAGGGTGGCCCACGTTGGAGGCAAAGTCCTCTCGGAGGCTGGGCCAGGCTGGGGAGAGGTGGGGGGCCCTTGGTGGCCCACAAACCACCTGCTTCAGAACGACCTGGCACACACCTCCAGGTGCCCAGTCCCTTACTCCAGCAGGGGCGGTCATGTAACCTGCCGCCAGTGACCTCGCCTCCTCTCCCCACCGGCACCCCATCCTGCACTCACCCAGAGAGAAGATCTCCCAGAGAAGCACCCCAAAGGACCACACGTCACTCTGCGTGGTGTACACCTTGTCGAAGATGCTTTCAGGGGCCATCCACTTCAGGGGCAGCCGGGCCTGGGGAGACAGAGGGAAGCTTGTCCCGTGGTGGATGGGGAGACGGAGGGAAGCGTGTCCCGTGGTGGATGGGGAGACGGAGGGAAGCGTGTCCTGCGGTGGATGGGGAGACGGAGGGAAGCGTGTCCCGTGGTGGATGGGAAGAGAGGGCTGAGGCCAGATGCTCTGGCACCCCCTAACAGGGTCCTCTGCCTGGGTTGAAGGTATCTCCCTGCTGCTGTTCTCCTGGGTCTGTCTGGGCCCCTCTCCCTCCCAGCTCTCAGGGGAGGGGTATCGGGGTAGACTGTACACCTTCCTCCAGCCCTAGACCTCCAGCGCAGCCTCCTGATGAAACGCACCCCTGCACACTCTCACCATCTCCCCTGACAAGCACGCTCTGTCCACTCACTGTCCCCACCCTGGAAGCCGGGCCATCACTCCTGACACCCTCCTCCTGGGCTCCTGAGGCATCTCCGCCGCCGGCTGTCTCTCTCCCTCTCATGGTCTCTACCTGGGAGCCCTGAGGGCCAGGGCCCTTCTGGACTGGCCTCTACCTCCACCCCAGCACCCCCACTCCCCTCTCTTCCCAGCTTACGGCATAAGGGAGGTTTTTGTAACTGCAGACAACCTGACACTTCCCTCCAACCAGCGGCCATGCTGGGCTGGATGGCTCATCAAGACCAGGCCCTGGGCCCATCCTGCTCCTCCCCCTCTGACACCCTTTCTCCCCCAGGCGCGGAACCCTGACCCGCCTTGGAGGCTCATCCAGGCACCTGCTGCCCTGCCTGAGCTCCATTCACAAGACACTCCGCCTCCTGAGTTCCACATACTGCACCAAGCGGGTCCATCTCCAGGACAGACACCACAGAATGCTTTGCACTCTCAGGCTCCATAGGGCAGGCCCTGGGAGTCAGGACCCACCGCACGGAGCAAGGCGCGGGGCAAAGACAAGCTCCAATCAGAACAAGCTCCAATCGGAGCACTGCGGCC
TCTCAAAAAAATAAATAAATAAATAAAAAGTACCCTTGATGTTGGGGTGAGGGGACACTGGTGGGTGGACAGGACTCAAAAACAAGCACGCAGCCAGGCCACACGGCCGTGGAAGGACCCTGCAGTGGGTCATTTAAAGCCACTCTGTGCTCTGAGTTTGTGCACACTGGCCTCTGACGTCGCATGATTTGCTTTTCCCCGATGACGCAGAGGGATAAAATGCACCTTGTCCACATGGCTTTCTCCCACCCTACTCCTGGACCTGCAGGACAGCTGACCTGGCGGCCAGGCTGTGGCGCTGCAGGCTTGGCGGGCTGTCCTCAGCGTCAGCCTGGGCGATGTGTAGGGCCATGGTGGACACCTGCGAGAAGCTGCCCTCTTCTGAGCTCTGAGAGCTGCGCGGGGCCATGCAGACCTCCTCTTCCTCCTGGCGGGAACAGGAGAGGCAGCCAGGCCAGAAACCACCAGCCACTGCCCTCAGCCCTCGCCCCCACCCTCAGCCCTCACCCCCGCCCTCAGCCCTCACCCCCGCCCTCAGCCCTCGCCCCCGCACTCAGCTCTCGCCCCCGCCCTCGCCCTGCCCTCAGCCCTCGCTCTGCCCTCGGGACTGCTTGGGCTCCTGACCCCTGAGATAGGGCCCTAACAGACCATGCGGGCACGTGAGTGCTCCACAGAGGAAACGAGCTCATGCCAGAAACCAGCACATCTCAGCCATCAAGACAGATAAGGGGTCAAGGTAGCAGAATGCTGGCTGTGCCAGCCTCGCTAAGTTCTCCCAACAGCCCTTCCAGGTACATTTATGGATGAGGCAGGTGGGGCAGGCTGGGGCTCAGCCGGATCATCCCTCCTCCAGTCCCTAGCTGAGCTGGCAGCCTCAGGAACTGGGGCCAGCACTCCCTACCTTCTTCTTTGGATGGAACTAGACCCGCAGCACCCATCCCAGTCCCTAAGGCCTGGGCAACAGGCCACCCCCTGCTTCTTGCTCCAGGCCCCACCTTGAGCTGGGTCACAAGCCGGCTCCATCCCCCACCCTGGAGGAGCACCACGTGGGGAGGGAGAGATGTCAGCACACACAGGTCAAGGGTCCGTGTGTTCAGTGGAGTGGGGGACAGAACTGGCACCAGGTGAAGGAATACATCATGACGATGCCAGGGAGATGGGGCTGCCTCACAGGCCGGGGGGGACCAGCCTAGGATTCCCCTCGCGCAGGGACAGGCTCTGACTATCCACACAGCACCTGGAGCAGGCAGTGGAGCTGTGCAGCGGGTGTGTACTCAACAGAAAGATGCAAGGGTGTGGGGACGAGGTGTGGATAGGGGCCCAGGACCCCACCACCCTAGCCTAGCAGCTGAGAGGTGGGCAGAGCCTAGATGGGCTTGGAGGGGCAGCTCGGGCCAGGGACCCAGGGCAGGGGCCAAAGGCCATAGTAGAACAGGGTGGGGAAGGGGCTCACTTGCAGGCCCCTGCCCTGGAGCAGGTCCCCCAGGATCTCCACCAGCTCCGAGAATGCAGGTCTCGCCTTGGGGTCTCCGGACCAGCAGTTCAGCATGATGCGGCGTCTGCAGGATCACGTGGGCTGCTGGACTGCATGCACCCCACCCCCGTCCCAGGACCTTCAGTGCCCCAGCCTTCCTGGGCCCTCTCACCCACTCTGCCCTCCTCCTGACACGTCTCCCACTCTTGTCCAGCTACCCTCGTTCCTCCTTCAAGTGTTAGCCCAGCGTCCCCTCCTGGTGATGCTTTCCCTGAACACTCGGCTCTGTTCCGACAGCGCCCGGCCTTCCCTCCTGGTGTCCTCCTGGTGCAGCTGTGCTACAGACTACCCGTGTATCTTGAGGGTGGTGCCCAGGCCTGTCCTACTGGCCCTGGCTTCCCTGATGCCACCTTCTCATGGACACAACCCCCACGCCCCCGACGCTTGCTGTCCCCAAAACCTGCAGGGCCATGGGGAGGCTCACATGGCGGGAGTGGCCAGCTCCGGGGCCCTCATCCTTGTGCCGTCTCTCAGCCGCTGGCAGAACTCCTCATTGATCTGCACCCCAGGGTACAGGGAGGCCCCTGACAACAGGAAGGGGAGGTGGGTGGGGAGCAAGCCTCCTGCGGCTCAGCCCAGCCCCCCAAGTCACCCCATCCTGTCCCTTCCCCATCAAGTCACCCCGTCCTGTCCCTTTCCCCATCCGTGGTGGGGTGGAGATGGCTCACCCGACTGTGCTCTACCTGGGACCTGTGGGCAAGTCGCTGCCCTCCCCAGCTCTAGTTCATTTGGTTAAAAGAGGACTGTGCCGCCTGCTTGCTAGGGGTGCCAAGAGCATCCACCCACTGGCGACACGGTAGACATCATGGTTACTGGATCATCAGCGGCGGGGGAGCCGCCTGCAGGCAGTTTCAACAAAGCCTCTCTTGCTTCTCGCTGCTTCTCCTGCTGCTCCCCCCAACCCCTGCTGCTCCCCCCAACCCCTGCTGCTCCTCCCAACCCCTGCTGCTCCCCGTCCTGGACTGCTGAACTCCCTCCTTGGGCCCCTCTGGCTTACCCGAGCTCCCACGCCTCCTACACTCTTCCTGCTCCTTTAGTTTCCGCAGTAGCGTGGATCAGTTGCCACTTGGTGACATTTTAACTTTTTCAAGTTCACTGCCCTACCCTGGCCTGGAGACTTCATCATGCTCGCAGCGGGGCCTGAGTTCCCACATGGAGCTCTTGGAGCTCTTGGAGTAGGCACGTCTGCTGACTGGGCACTGAGCTCCCTCTGGGGCTGCCATGTGAAAAGGCTCAGTCCTGGCTCAGGCTTCAATGTGCACCCCACAGAGGGTGGCCCACGTTGGAGGCAAAGTCCTCTCGGAGGCTGGGCCAGGCTGGGGAGAGGTGGGGGGCCCTTGGTGGCCCACAAACCACCTGCTTCAGAACGACCTGGCACACACCTCCAGGTGCCCAGTCCCTTACTCCAGCAGGGGCGGTCATGTAACCTGCCGCCAGTGACCTCGCCTCCTCTCCCCACCGGCACCCCATCCTGCACTCACCCAGAGAGAAGATCTCCCAGAGAAGCACCCCAAAGGACCACACGTCACTCTGCGTGGTGTACACCTTGTCGAAGATGCTTTCAGGGGCCATCCACTTCAGGGGCAGCCGGGCCTGGGGAGACAGAGGGAAGCTTGTCCCGTGGTGGATGGGGAGACGGAGGGAAGCGTGTCCCGTGGTGGATGGGGAGACGGAGGGAAGCGTGTCCTGCGGTGGATGGGGAGACGGAGGGAAGCGTGTCCCGTGGTGGATGGGAAGAGAGGGCTGAGGCCAGATGCTCTGGCACCCCCTAACAGGGTCCTCTGCCTGGGTTGAAGGTATCTCCCTGCTGCTGTTCTCCTGGGTCTGTCTGGGCCCCTCTCCCTCCCAGCTCTCAGGGGAGGGGTATCGGGGTAGACTGTACACCTTCCTCCAGCCCTAGACCTCCAGCGCAGCCTCCTGATGAAACGCACCCCTGCACACTCTCACCATCTCCCCTGACAAGCACGCTCTGTCCACTCACTGTCCCCACCCTGGAAGCCGGGCCATCACTCCTGACACCCTCCTCCTGGGCTCCTGAGGCATCTCCGCCGCCGGCTGTCTCTCTCCCTCTCATGGTCTCTACCTGGGAGCCCTGAGGGCCAGGGCCCTTCTGGACTGGCCTCTACCTCCACCCCAGCACCCCCACTCCCCTCTCTTCCCAGCTTACGGCATAAGGGAGGTTTTTGTAACTGCAGACAACCTGACACTTCCCTCCAACCAGCGGCCATGCTGGGCTGGATGGCTCATCAAGACCAGGCCCTGGGCCCATCCTGCTCCTCCCCCTCTGACACCCTTTCTCCCCCAGGCGCGGAACCCTGACCCGCCTTGGAGGCTCATCCAGGCACCTGCTGCCCTGCCTGAGCTCCATTCACAAGACACTCCGCCTCCTGAGTTCCACATACTGCACCAAGCGGGTCCATCTCCAGGACAGACACCACAGAATGCTTTGCACTCTCAGGCTCCATAGGGCAGGCCCTGGGAGTCAGGACCCACCGCACGGAGCAAGGCGCGGGGCAAAGACAAGCTCCAATCAGAACAAGCTCCAATCGGAGCACTGCGGCC
Task1_train_9919
The gene FLT4 (fms related receptor tyrosine kinase 4) on Chromosome 5 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Hereditary lymphedema type I
AATAAATAAATAAATAAAAAGTACCCTTGATGTTGGGGTGAGGGGACACTGGTGGGTGGACAGGACTCAAAAACAAGCACGCAGCCAGGCCACACGGCCGTGGAAGGACCCTGCAGTGGGTCATTTAAAGCCACTCTGTGCTCTGAGTTTGTGCACACTGGCCTCTGACGTCGCATGATTTGCTTTTCCCCGATGACGCAGAGGGATAAAATGCACCTTGTCCACATGGCTTTCTCCCACCCTACTCCTGGACCTGCAGGACAGCTGACCTGGCGGCCAGGCTGTGGCGCTGCAGGCTTGGCGGGCTGTCCTCAGCGTCAGCCTGGGCGATGTGTAGGGCCATGGTGGACACCTGCGAGAAGCTGCCCTCTTCTGAGCTCTGAGAGCTGCGCGGGGCCATGCAGACCTCCTCTTCCTCCTGGCGGGAACAGGAGAGGCAGCCAGGCCAGAAACCACCAGCCACTGCCCTCAGCCCTCGCCCCCACCCTCAGCCCTCACCCCCGCCCTCAGCCCTCACCCCCGCCCTCAGCCCTCGCCCCCGCACTCAGCTCTCGCCCCCGCCCTCGCCCTGCCCTCAGCCCTCGCTCTGCCCTCGGGACTGCTTGGGCTCCTGACCCCTGAGATAGGGCCCTAACAGACCATGCGGGCACGTGAGTGCTCCACAGAGGAAACGAGCTCATGCCAGAAACCAGCACATCTCAGCCATCAAGACAGATAAGGGGTCAAGGTAGCAGAATGCTGGCTGTGCCAGCCTCGCTAAGTTCTCCCAACAGCCCTTCCAGGTACATTTATGGATGAGGCAGGTGGGGCAGGCTGGGGCTCAGCCGGATCATCCCTCCTCCAGTCCCTAGCTGAGCTGGCAGCCTCAGGAACTGGGGCCAGCACTCCCTACCTTCTTCTTTGGATGGAACTAGACCCGCAGCACCCATCCCAGTCCCTAAGGCCTGGGCAACAGGCCACCCCCTGCTTCTTGCTCCAGGCCCCACCTTGAGCTGGGTCACAAGCCGGCTCCATCCCCCACCCTGGAGGAGCACCACGTGGGGAGGGAGAGATGTCAGCACACACAGGTCAAGGGTCCGTGTGTTCAGTGGAGTGGGGGACAGAACTGGCACCAGGTGAAGGAATACATCATGACGATGCCAGGGAGATGGGGCTGCCTCACAGGCCGGGGGGGACCAGCCTAGGATTCCCCTCGCGCAGGGACAGGCTCTGACTATCCACACAGCACCTGGAGCAGGCAGTGGAGCTGTGCAGCGGGTGTGTACTCAACAGAAAGATGCAAGGGTGTGGGGACGAGGTGTGGATAGGGGCCCAGGACCCCACCACCCTAGCCTAGCAGCTGAGAGGTGGGCAGAGCCTAGATGGGCTTGGAGGGGCAGCTCGGGCCAGGGACCCAGGGCAGGGGCCAAAGGCCATAGTAGAACAGGGTGGGGAAGGGGCTCACTTGCAGGCCCCTGCCCTGGAGCAGGTCCCCCAGGATCTCCACCAGCTCCGAGAATGCAGGTCTCGCCTTGGGGTCTCCGGACCAGCAGTTCAGCATGATGCGGCGTCTGCAGGATCACGTGGGCTGCTGGACTGCATGCACCCCACCCCCGTCCCAGGACCTTCAGTGCCCCAGCCTTCCTGGGCCCTCTCACCCACTCTGCCCTCCTCCTGACACGTCTCCCACTCTTGTCCAGCTACCCTCGTTCCTCCTTCAAGTGTTAGCCCAGCGTCCCCTCCTGGTGATGCTTTCCCTGAACACTCGGCTCTGTTCCGACAGCGCCCGGCCTTCCCTCCTGGTGTCCTCCTGGTGCAGCTGTGCTACAGACTACCCGTGTATCTTGAGGGTGGTGCCCAGGCCTGTCCTACTGGCCCTGGCTTCCCTGATGCCACCTTCTCATGGACACAACCCCCACGCCCCCGACGCTTGCTGTCCCCAAAACCTGCAGGGCCATGGGGAGGCTCACATGGCGGGAGTGGCCAGCTCCGGGGCCCTCATCCTTGTGCCGTCTCTCAGCCGCTGGCAGAACTCCTCATTGATCTGCACCCCAGGGTACGGGGAGGCCCCTGACAACAGGAAGGGGAGGTGGGTGGGGAGCAAGCCTCCTGCGGCTCAGCCCAGCCCCCCAAGTCACCCCATCCTGTCCCTTCCCCATCAAGTCACCCCGTCCTGTCCCTTTCCCCATCCGTGGTGGGGTGGAGATGGCTCACCCGACTGTGCTCTACCTGGGACCTGTGGGCAAGTCGCTGCCCTCCCCAGCTCTAGTTCATTTGGTTAAAAGAGGACTGTGCCGCCTGCTTGCTAGGGGTGCCAAGAGCATCCACCCACTGGCGACACGGTAGACATCATGGTTACTGGATCATCAGCGGCGGGGGAGCCGCCTGCAGGCAGTTTCAACAAAGCCTCTCTTGCTTCTCGCTGCTTCTCCTGCTGCTCCCCCCAACCCCTGCTGCTCCCCCCAACCCCTGCTGCTCCTCCCAACCCCTGCTGCTCCCCGTCCTGGACTGCTGAACTCCCTCCTTGGGCCCCTCTGGCTTACCCGAGCTCCCACGCCTCCTACACTCTTCCTGCTCCTTTAGTTTCCGCAGTAGCGTGGATCAGTTGCCACTTGGTGACATTTTAACTTTTTCAAGTTCACTGCCCTACCCTGGCCTGGAGACTTCATCATGCTCGCAGCGGGGCCTGAGTTCCCACATGGAGCTCTTGGAGCTCTTGGAGTAGGCACGTCTGCTGACTGGGCACTGAGCTCCCTCTGGGGCTGCCATGTGAAAAGGCTCAGTCCTGGCTCAGGCTTCAATGTGCACCCCACAGAGGGTGGCCCACGTTGGAGGCAAAGTCCTCTCGGAGGCTGGGCCAGGCTGGGGAGAGGTGGGGGGCCCTTGGTGGCCCACAAACCACCTGCTTCAGAACGACCTGGCACACACCTCCAGGTGCCCAGTCCCTTACTCCAGCAGGGGCGGTCATGTAACCTGCCGCCAGTGACCTCGCCTCCTCTCCCCACCGGCACCCCATCCTGCACTCACCCAGAGAGAAGATCTCCCAGAGAAGCACCCCAAAGGACCACACGTCACTCTGCGTGGTGTACACCTTGTCGAAGATGCTTTCAGGGGCCATCCACTTCAGGGGCAGCCGGGCCTGGGGAGACAGAGGGAAGCTTGTCCCGTGGTGGATGGGGAGACGGAGGGAAGCGTGTCCCGTGGTGGATGGGGAGACGGAGGGAAGCGTGTCCTGCGGTGGATGGGGAGACGGAGGGAAGCGTGTCCCGTGGTGGATGGGAAGAGAGGGCTGAGGCCAGATGCTCTGGCACCCCCTAACAGGGTCCTCTGCCTGGGTTGAAGGTATCTCCCTGCTGCTGTTCTCCTGGGTCTGTCTGGGCCCCTCTCCCTCCCAGCTCTCAGGGGAGGGGTATCGGGGTAGACTGTACACCTTCCTCCAGCCCTAGACCTCCAGCGCAGCCTCCTGATGAAACGCACCCCTGCACACTCTCACCATCTCCCCTGACAAGCACGCTCTGTCCACTCACTGTCCCCACCCTGGAAGCCGGGCCATCACTCCTGACACCCTCCTCCTGGGCTCCTGAGGCATCTCCGCCGCCGGCTGTCTCTCTCCCTCTCATGGTCTCTACCTGGGAGCCCTGAGGGCCAGGGCCCTTCTGGACTGGCCTCTACCTCCACCCCAGCACCCCCACTCCCCTCTCTTCCCAGCTTACGGCATAAGGGAGGTTTTTGTAACTGCAGACAACCTGACACTTCCCTCCAACCAGCGGCCATGCTGGGCTGGATGGCTCATCAAGACCAGGCCCTGGGCCCATCCTGCTCCTCCCCCTCTGACACCCTTTCTCCCCCAGGCGCGGAACCCTGACCCGCCTTGGAGGCTCATCCAGGCACCTGCTGCCCTGCCTGAGCTCCATTCACAAGACACTCCGCCTCCTGAGTTCCACATACTGCACCAAGCGGGTCCATCTCCAGGACAGACACCACAGAATGCTTTGCACTCTCAGGCTCCATAGGGCAGGCCCTGGGAGTCAGGACCCACCGCACGGAGCAAGGCGCGGGGCAAAGACAAGCTCCAATCAGAACAAGCTCCAATCGGAGCACTGCGGCCCCGCTGGTC
AATAAATAAATAAATAAAAAGTACCCTTGATGTTGGGGTGAGGGGACACTGGTGGGTGGACAGGACTCAAAAACAAGCACGCAGCCAGGCCACACGGCCGTGGAAGGACCCTGCAGTGGGTCATTTAAAGCCACTCTGTGCTCTGAGTTTGTGCACACTGGCCTCTGACGTCGCATGATTTGCTTTTCCCCGATGACGCAGAGGGATAAAATGCACCTTGTCCACATGGCTTTCTCCCACCCTACTCCTGGACCTGCAGGACAGCTGACCTGGCGGCCAGGCTGTGGCGCTGCAGGCTTGGCGGGCTGTCCTCAGCGTCAGCCTGGGCGATGTGTAGGGCCATGGTGGACACCTGCGAGAAGCTGCCCTCTTCTGAGCTCTGAGAGCTGCGCGGGGCCATGCAGACCTCCTCTTCCTCCTGGCGGGAACAGGAGAGGCAGCCAGGCCAGAAACCACCAGCCACTGCCCTCAGCCCTCGCCCCCACCCTCAGCCCTCACCCCCGCCCTCAGCCCTCACCCCCGCCCTCAGCCCTCGCCCCCGCACTCAGCTCTCGCCCCCGCCCTCGCCCTGCCCTCAGCCCTCGCTCTGCCCTCGGGACTGCTTGGGCTCCTGACCCCTGAGATAGGGCCCTAACAGACCATGCGGGCACGTGAGTGCTCCACAGAGGAAACGAGCTCATGCCAGAAACCAGCACATCTCAGCCATCAAGACAGATAAGGGGTCAAGGTAGCAGAATGCTGGCTGTGCCAGCCTCGCTAAGTTCTCCCAACAGCCCTTCCAGGTACATTTATGGATGAGGCAGGTGGGGCAGGCTGGGGCTCAGCCGGATCATCCCTCCTCCAGTCCCTAGCTGAGCTGGCAGCCTCAGGAACTGGGGCCAGCACTCCCTACCTTCTTCTTTGGATGGAACTAGACCCGCAGCACCCATCCCAGTCCCTAAGGCCTGGGCAACAGGCCACCCCCTGCTTCTTGCTCCAGGCCCCACCTTGAGCTGGGTCACAAGCCGGCTCCATCCCCCACCCTGGAGGAGCACCACGTGGGGAGGGAGAGATGTCAGCACACACAGGTCAAGGGTCCGTGTGTTCAGTGGAGTGGGGGACAGAACTGGCACCAGGTGAAGGAATACATCATGACGATGCCAGGGAGATGGGGCTGCCTCACAGGCCGGGGGGGACCAGCCTAGGATTCCCCTCGCGCAGGGACAGGCTCTGACTATCCACACAGCACCTGGAGCAGGCAGTGGAGCTGTGCAGCGGGTGTGTACTCAACAGAAAGATGCAAGGGTGTGGGGACGAGGTGTGGATAGGGGCCCAGGACCCCACCACCCTAGCCTAGCAGCTGAGAGGTGGGCAGAGCCTAGATGGGCTTGGAGGGGCAGCTCGGGCCAGGGACCCAGGGCAGGGGCCAAAGGCCATAGTAGAACAGGGTGGGGAAGGGGCTCACTTGCAGGCCCCTGCCCTGGAGCAGGTCCCCCAGGATCTCCACCAGCTCCGAGAATGCAGGTCTCGCCTTGGGGTCTCCGGACCAGCAGTTCAGCATGATGCGGCGTCTGCAGGATCACGTGGGCTGCTGGACTGCATGCACCCCACCCCCGTCCCAGGACCTTCAGTGCCCCAGCCTTCCTGGGCCCTCTCACCCACTCTGCCCTCCTCCTGACACGTCTCCCACTCTTGTCCAGCTACCCTCGTTCCTCCTTCAAGTGTTAGCCCAGCGTCCCCTCCTGGTGATGCTTTCCCTGAACACTCGGCTCTGTTCCGACAGCGCCCGGCCTTCCCTCCTGGTGTCCTCCTGGTGCAGCTGTGCTACAGACTACCCGTGTATCTTGAGGGTGGTGCCCAGGCCTGTCCTACTGGCCCTGGCTTCCCTGATGCCACCTTCTCATGGACACAACCCCCACGCCCCCGACGCTTGCTGTCCCCAAAACCTGCAGGGCCATGGGGAGGCTCACATGGCGGGAGTGGCCAGCTCCGGGGCCCTCATCCTTGTGCCGTCTCTCAGCCGCTGGCAGAACTCCTCATTGATCTGCACCCCAGGGTACGGGGAGGCCTCTGACAACAGGAAGGGGAGGTGGGTGGGGAGCAAGCCTCCTGCGGCTCAGCCCAGCCCCCCAAGTCACCCCATCCTGTCCCTTCCCCATCAAGTCACCCCGTCCTGTCCCTTTCCCCATCCGTGGTGGGGTGGAGATGGCTCACCCGACTGTGCTCTACCTGGGACCTGTGGGCAAGTCGCTGCCCTCCCCAGCTCTAGTTCATTTGGTTAAAAGAGGACTGTGCCGCCTGCTTGCTAGGGGTGCCAAGAGCATCCACCCACTGGCGACACGGTAGACATCATGGTTACTGGATCATCAGCGGCGGGGGAGCCGCCTGCAGGCAGTTTCAACAAAGCCTCTCTTGCTTCTCGCTGCTTCTCCTGCTGCTCCCCCCAACCCCTGCTGCTCCCCCCAACCCCTGCTGCTCCTCCCAACCCCTGCTGCTCCCCGTCCTGGACTGCTGAACTCCCTCCTTGGGCCCCTCTGGCTTACCCGAGCTCCCACGCCTCCTACACTCTTCCTGCTCCTTTAGTTTCCGCAGTAGCGTGGATCAGTTGCCACTTGGTGACATTTTAACTTTTTCAAGTTCACTGCCCTACCCTGGCCTGGAGACTTCATCATGCTCGCAGCGGGGCCTGAGTTCCCACATGGAGCTCTTGGAGCTCTTGGAGTAGGCACGTCTGCTGACTGGGCACTGAGCTCCCTCTGGGGCTGCCATGTGAAAAGGCTCAGTCCTGGCTCAGGCTTCAATGTGCACCCCACAGAGGGTGGCCCACGTTGGAGGCAAAGTCCTCTCGGAGGCTGGGCCAGGCTGGGGAGAGGTGGGGGGCCCTTGGTGGCCCACAAACCACCTGCTTCAGAACGACCTGGCACACACCTCCAGGTGCCCAGTCCCTTACTCCAGCAGGGGCGGTCATGTAACCTGCCGCCAGTGACCTCGCCTCCTCTCCCCACCGGCACCCCATCCTGCACTCACCCAGAGAGAAGATCTCCCAGAGAAGCACCCCAAAGGACCACACGTCACTCTGCGTGGTGTACACCTTGTCGAAGATGCTTTCAGGGGCCATCCACTTCAGGGGCAGCCGGGCCTGGGGAGACAGAGGGAAGCTTGTCCCGTGGTGGATGGGGAGACGGAGGGAAGCGTGTCCCGTGGTGGATGGGGAGACGGAGGGAAGCGTGTCCTGCGGTGGATGGGGAGACGGAGGGAAGCGTGTCCCGTGGTGGATGGGAAGAGAGGGCTGAGGCCAGATGCTCTGGCACCCCCTAACAGGGTCCTCTGCCTGGGTTGAAGGTATCTCCCTGCTGCTGTTCTCCTGGGTCTGTCTGGGCCCCTCTCCCTCCCAGCTCTCAGGGGAGGGGTATCGGGGTAGACTGTACACCTTCCTCCAGCCCTAGACCTCCAGCGCAGCCTCCTGATGAAACGCACCCCTGCACACTCTCACCATCTCCCCTGACAAGCACGCTCTGTCCACTCACTGTCCCCACCCTGGAAGCCGGGCCATCACTCCTGACACCCTCCTCCTGGGCTCCTGAGGCATCTCCGCCGCCGGCTGTCTCTCTCCCTCTCATGGTCTCTACCTGGGAGCCCTGAGGGCCAGGGCCCTTCTGGACTGGCCTCTACCTCCACCCCAGCACCCCCACTCCCCTCTCTTCCCAGCTTACGGCATAAGGGAGGTTTTTGTAACTGCAGACAACCTGACACTTCCCTCCAACCAGCGGCCATGCTGGGCTGGATGGCTCATCAAGACCAGGCCCTGGGCCCATCCTGCTCCTCCCCCTCTGACACCCTTTCTCCCCCAGGCGCGGAACCCTGACCCGCCTTGGAGGCTCATCCAGGCACCTGCTGCCCTGCCTGAGCTCCATTCACAAGACACTCCGCCTCCTGAGTTCCACATACTGCACCAAGCGGGTCCATCTCCAGGACAGACACCACAGAATGCTTTGCACTCTCAGGCTCCATAGGGCAGGCCCTGGGAGTCAGGACCCACCGCACGGAGCAAGGCGCGGGGCAAAGACAAGCTCCAATCAGAACAAGCTCCAATCGGAGCACTGCGGCCCCGCTGGTC
Task1_train_9920
A variant affecting Chromosome 5, within the gene FLT4 (fms related receptor tyrosine kinase 4), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Hereditary lymphedema type I
CTCCAGGCCCCACCTTGAGCTGGGTCACAAGCCGGCTCCATCCCCCACCCTGGAGGAGCACCACGTGGGGAGGGAGAGATGTCAGCACACACAGGTCAAGGGTCCGTGTGTTCAGTGGAGTGGGGGACAGAACTGGCACCAGGTGAAGGAATACATCATGACGATGCCAGGGAGATGGGGCTGCCTCACAGGCCGGGGGGGACCAGCCTAGGATTCCCCTCGCGCAGGGACAGGCTCTGACTATCCACACAGCACCTGGAGCAGGCAGTGGAGCTGTGCAGCGGGTGTGTACTCAACAGAAAGATGCAAGGGTGTGGGGACGAGGTGTGGATAGGGGCCCAGGACCCCACCACCCTAGCCTAGCAGCTGAGAGGTGGGCAGAGCCTAGATGGGCTTGGAGGGGCAGCTCGGGCCAGGGACCCAGGGCAGGGGCCAAAGGCCATAGTAGAACAGGGTGGGGAAGGGGCTCACTTGCAGGCCCCTGCCCTGGAGCAGGTCCCCCAGGATCTCCACCAGCTCCGAGAATGCAGGTCTCGCCTTGGGGTCTCCGGACCAGCAGTTCAGCATGATGCGGCGTCTGCAGGATCACGTGGGCTGCTGGACTGCATGCACCCCACCCCCGTCCCAGGACCTTCAGTGCCCCAGCCTTCCTGGGCCCTCTCACCCACTCTGCCCTCCTCCTGACACGTCTCCCACTCTTGTCCAGCTACCCTCGTTCCTCCTTCAAGTGTTAGCCCAGCGTCCCCTCCTGGTGATGCTTTCCCTGAACACTCGGCTCTGTTCCGACAGCGCCCGGCCTTCCCTCCTGGTGTCCTCCTGGTGCAGCTGTGCTACAGACTACCCGTGTATCTTGAGGGTGGTGCCCAGGCCTGTCCTACTGGCCCTGGCTTCCCTGATGCCACCTTCTCATGGACACAACCCCCACGCCCCCGACGCTTGCTGTCCCCAAAACCTGCAGGGCCATGGGGAGGCTCACATGGCGGGAGTGGCCAGCTCCGGGGCCCTCATCCTTGTGCCGTCTCTCAGCCGCTGGCAGAACTCCTCATTGATCTGCACCCCAGGGTACGGGGAGGCCCCTGACAACAGGAAGGGGAGGTGGGTGGGGAGCAAGCCTCCTGCGGCTCAGCCCAGCCCCCCAAGTCACCCCATCCTGTCCCTTCCCCATCAAGTCACCCCGTCCTGTCCCTTTCCCCATCCGTGGTGGGGTGGAGATGGCTCACCCGACTGTGCTCTACCTGGGACCTGTGGGCAAGTCGCTGCCCTCCCCAGCTCTAGTTCATTTGGTTAAAAGAGGACTGTGCCGCCTGCTTGCTAGGGGTGCCAAGAGCATCCACCCACTGGCGACACGGTAGACATCATGGTTACTGGATCATCAGCGGCGGGGGAGCCGCCTGCAGGCAGTTTCAACAAAGCCTCTCTTGCTTCTCGCTGCTTCTCCTGCTGCTCCCCCCAACCCCTGCTGCTCCCCCCAACCCCTGCTGCTCCTCCCAACCCCTGCTGCTCCCCGTCCTGGACTGCTGAACTCCCTCCTTGGGCCCCTCTGGCTTACCCGAGCTCCCACGCCTCCTACACTCTTCCTGCTCCTTTAGTTTCCGCAGTAGCGTGGATCAGTTGCCACTTGGTGACATTTTAACTTTTTCAAGTTCACTGCCCTACCCTGGCCTGGAGACTTCATCATGCTCGCAGCGGGGCCTGAGTTCCCACATGGAGCTCTTGGAGCTCTTGGAGTAGGCACGTCTGCTGACTGGGCACTGAGCTCCCTCTGGGGCTGCCATGTGAAAAGGCTCAGTCCTGGCTCAGGCTTCAATGTGCACCCCACAGAGGGTGGCCCACGTTGGAGGCAAAGTCCTCTCGGAGGCTGGGCCAGGCTGGGGAGAGGTGGGGGGCCCTTGGTGGCCCACAAACCACCTGCTTCAGAACGACCTGGCACACACCTCCAGGTGCCCAGTCCCTTACTCCAGCAGGGGCGGTCATGTAACCTGCCGCCAGTGACCTCGCCTCCTCTCCCCACCGGCACCCCATCCTGCACTCACCCAGAGAGAAGATCTCCCAGAGAAGCACCCCAAAGGACCACACGTCACTCTGCGTGGTGTACACCTTGTCGAAGATGCTTTCAGGGGCCATCCACTTCAGGGGCAGCCGGGCCTGGGGAGACAGAGGGAAGCTTGTCCCGTGGTGGATGGGGAGACGGAGGGAAGCGTGTCCCGTGGTGGATGGGGAGACGGAGGGAAGCGTGTCCTGCGGTGGATGGGGAGACGGAGGGAAGCGTGTCCCGTGGTGGATGGGAAGAGAGGGCTGAGGCCAGATGCTCTGGCACCCCCTAACAGGGTCCTCTGCCTGGGTTGAAGGTATCTCCCTGCTGCTGTTCTCCTGGGTCTGTCTGGGCCCCTCTCCCTCCCAGCTCTCAGGGGAGGGGTATCGGGGTAGACTGTACACCTTCCTCCAGCCCTAGACCTCCAGCGCAGCCTCCTGATGAAACGCACCCCTGCACACTCTCACCATCTCCCCTGACAAGCACGCTCTGTCCACTCACTGTCCCCACCCTGGAAGCCGGGCCATCACTCCTGACACCCTCCTCCTGGGCTCCTGAGGCATCTCCGCCGCCGGCTGTCTCTCTCCCTCTCATGGTCTCTACCTGGGAGCCCTGAGGGCCAGGGCCCTTCTGGACTGGCCTCTACCTCCACCCCAGCACCCCCACTCCCCTCTCTTCCCAGCTTACGGCATAAGGGAGGTTTTTGTAACTGCAGACAACCTGACACTTCCCTCCAACCAGCGGCCATGCTGGGCTGGATGGCTCATCAAGACCAGGCCCTGGGCCCATCCTGCTCCTCCCCCTCTGACACCCTTTCTCCCCCAGGCGCGGAACCCTGACCCGCCTTGGAGGCTCATCCAGGCACCTGCTGCCCTGCCTGAGCTCCATTCACAAGACACTCCGCCTCCTGAGTTCCACATACTGCACCAAGCGGGTCCATCTCCAGGACAGACACCACAGAATGCTTTGCACTCTCAGGCTCCATAGGGCAGGCCCTGGGAGTCAGGACCCACCGCACGGAGCAAGGCGCGGGGCAAAGACAAGCTCCAATCAGAACAAGCTCCAATCGGAGCACTGCGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGCCCCGCTGGTCAACTCCCATCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACTGGGTCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTGTCTTTCGGAGCACTGGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGTCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCAC
CTCCAGGCCCCACCTTGAGCTGGGTCACAAGCCGGCTCCATCCCCCACCCTGGAGGAGCACCACGTGGGGAGGGAGAGATGTCAGCACACACAGGTCAAGGGTCCGTGTGTTCAGTGGAGTGGGGGACAGAACTGGCACCAGGTGAAGGAATACATCATGACGATGCCAGGGAGATGGGGCTGCCTCACAGGCCGGGGGGGACCAGCCTAGGATTCCCCTCGCGCAGGGACAGGCTCTGACTATCCACACAGCACCTGGAGCAGGCAGTGGAGCTGTGCAGCGGGTGTGTACTCAACAGAAAGATGCAAGGGTGTGGGGACGAGGTGTGGATAGGGGCCCAGGACCCCACCACCCTAGCCTAGCAGCTGAGAGGTGGGCAGAGCCTAGATGGGCTTGGAGGGGCAGCTCGGGCCAGGGACCCAGGGCAGGGGCCAAAGGCCATAGTAGAACAGGGTGGGGAAGGGGCTCACTTGCAGGCCCCTGCCCTGGAGCAGGTCCCCCAGGATCTCCACCAGCTCCGAGAATGCAGGTCTCGCCTTGGGGTCTCCGGACCAGCAGTTCAGCATGATGCGGCGTCTGCAGGATCACGTGGGCTGCTGGACTGCATGCACCCCACCCCCGTCCCAGGACCTTCAGTGCCCCAGCCTTCCTGGGCCCTCTCACCCACTCTGCCCTCCTCCTGACACGTCTCCCACTCTTGTCCAGCTACCCTCGTTCCTCCTTCAAGTGTTAGCCCAGCGTCCCCTCCTGGTGATGCTTTCCCTGAACACTCGGCTCTGTTCCGACAGCGCCCGGCCTTCCCTCCTGGTGTCCTCCTGGTGCAGCTGTGCTACAGACTACCCGTGTATCTTGAGGGTGGTGCCCAGGCCTGTCCTACTGGCCCTGGCTTCCCTGATGCCACCTTCTCATGGACACAACCCCCACGCCCCCGACGCTTGCTGTCCCCAAAACCTGCAGGGCCATGGGGAGGCTCACATGGCGGGAGTGGCCAGCTCCGGGGCCCTCATCCTTGTGCCGTCTCTCAGCCGCTGGCAGAACTCCTCATTGATCTGCACCCCAGGGTACGGGGAGGCCCCTGACAACAGGAAGGGGAGGTGGGTGGGGAGCAAGCCTCCTGCGGCTCAGCCCAGCCCCCCAAGTCACCCCATCCTGTCCCTTCCCCATCAAGTCACCCCGTCCTGTCCCTTTCCCCATCCGTGGTGGGGTGGAGATGGCTCACCCGACTGTGCTCTACCTGGGACCTGTGGGCAAGTCGCTGCCCTCCCCAGCTCTAGTTCATTTGGTTAAAAGAGGACTGTGCCGCCTGCTTGCTAGGGGTGCCAAGAGCATCCACCCACTGGCGACACGGTAGACATCATGGTTACTGGATCATCAGCGGCGGGGGAGCCGCCTGCAGGCAGTTTCAACAAAGCCTCTCTTGCTTCTCGCTGCTTCTCCTGCTGCTCCCCCCAACCCCTGCTGCTCCCCCCAACCCCTGCTGCTCCTCCCAACCCCTGCTGCTCCCCGTCCTGGACTGCTGAACTCCCTCCTTGGGCCCCTCTGGCTTACCCGAGCTCCCACGCCTCCTACACTCTTCCTGCTCCTTTAGTTTCCGCAGTAGCGTGGATCAGTTGCCACTTGGTGACATTTTAACTTTTTCAAGTTCACTGCCCTACCCTGGCCTGGAGACTTCATCATGCTCGCAGCGGGGCCTGAGTTCCCACATGGAGCTCTTGGAGCTCTTGGAGTAGGCACGTCTGCTGACTGGGCACTGAGCTCCCTCTGGGGCTGCCATGTGAAAAGGCTCAGTCCTGGCTCAGGCTTCAATGTGCACCCCACAGAGGGTGGCCCACGTTGGAGGCAAAGTCCTCTCGGAGGCTGGGCCAGGCTGGGGAGAGGTGGGGGGCCCTTGGTGGCCCACAAACCACCTGCTTCAGAACGACCTGGCACACACCTCCAGGTGCCCAGTCCCTTACTCCAGCAGGGGCGGTCATGTAACCTGCCGCCAGTGACCTCGCCTCCTCTCCCCACCGGCACCCCATCCTGCACTCACCCAGAGAGAAGATCTTCCAGAGAAGCACCCCAAAGGACCACACGTCACTCTGCGTGGTGTACACCTTGTCGAAGATGCTTTCAGGGGCCATCCACTTCAGGGGCAGCCGGGCCTGGGGAGACAGAGGGAAGCTTGTCCCGTGGTGGATGGGGAGACGGAGGGAAGCGTGTCCCGTGGTGGATGGGGAGACGGAGGGAAGCGTGTCCTGCGGTGGATGGGGAGACGGAGGGAAGCGTGTCCCGTGGTGGATGGGAAGAGAGGGCTGAGGCCAGATGCTCTGGCACCCCCTAACAGGGTCCTCTGCCTGGGTTGAAGGTATCTCCCTGCTGCTGTTCTCCTGGGTCTGTCTGGGCCCCTCTCCCTCCCAGCTCTCAGGGGAGGGGTATCGGGGTAGACTGTACACCTTCCTCCAGCCCTAGACCTCCAGCGCAGCCTCCTGATGAAACGCACCCCTGCACACTCTCACCATCTCCCCTGACAAGCACGCTCTGTCCACTCACTGTCCCCACCCTGGAAGCCGGGCCATCACTCCTGACACCCTCCTCCTGGGCTCCTGAGGCATCTCCGCCGCCGGCTGTCTCTCTCCCTCTCATGGTCTCTACCTGGGAGCCCTGAGGGCCAGGGCCCTTCTGGACTGGCCTCTACCTCCACCCCAGCACCCCCACTCCCCTCTCTTCCCAGCTTACGGCATAAGGGAGGTTTTTGTAACTGCAGACAACCTGACACTTCCCTCCAACCAGCGGCCATGCTGGGCTGGATGGCTCATCAAGACCAGGCCCTGGGCCCATCCTGCTCCTCCCCCTCTGACACCCTTTCTCCCCCAGGCGCGGAACCCTGACCCGCCTTGGAGGCTCATCCAGGCACCTGCTGCCCTGCCTGAGCTCCATTCACAAGACACTCCGCCTCCTGAGTTCCACATACTGCACCAAGCGGGTCCATCTCCAGGACAGACACCACAGAATGCTTTGCACTCTCAGGCTCCATAGGGCAGGCCCTGGGAGTCAGGACCCACCGCACGGAGCAAGGCGCGGGGCAAAGACAAGCTCCAATCAGAACAAGCTCCAATCGGAGCACTGCGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGCCCCGCTGGTCAACTCCCATCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACTGGGTCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTGTCTTTCGGAGCACTGGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGTCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCAC
Task1_train_9921
This alteration in FLT4 (fms related receptor tyrosine kinase 4) on Chromosome 5 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; FLT4-related disorder
ACCACGTGGGGAGGGAGAGATGTCAGCACACACAGGTCAAGGGTCCGTGTGTTCAGTGGAGTGGGGGACAGAACTGGCACCAGGTGAAGGAATACATCATGACGATGCCAGGGAGATGGGGCTGCCTCACAGGCCGGGGGGGACCAGCCTAGGATTCCCCTCGCGCAGGGACAGGCTCTGACTATCCACACAGCACCTGGAGCAGGCAGTGGAGCTGTGCAGCGGGTGTGTACTCAACAGAAAGATGCAAGGGTGTGGGGACGAGGTGTGGATAGGGGCCCAGGACCCCACCACCCTAGCCTAGCAGCTGAGAGGTGGGCAGAGCCTAGATGGGCTTGGAGGGGCAGCTCGGGCCAGGGACCCAGGGCAGGGGCCAAAGGCCATAGTAGAACAGGGTGGGGAAGGGGCTCACTTGCAGGCCCCTGCCCTGGAGCAGGTCCCCCAGGATCTCCACCAGCTCCGAGAATGCAGGTCTCGCCTTGGGGTCTCCGGACCAGCAGTTCAGCATGATGCGGCGTCTGCAGGATCACGTGGGCTGCTGGACTGCATGCACCCCACCCCCGTCCCAGGACCTTCAGTGCCCCAGCCTTCCTGGGCCCTCTCACCCACTCTGCCCTCCTCCTGACACGTCTCCCACTCTTGTCCAGCTACCCTCGTTCCTCCTTCAAGTGTTAGCCCAGCGTCCCCTCCTGGTGATGCTTTCCCTGAACACTCGGCTCTGTTCCGACAGCGCCCGGCCTTCCCTCCTGGTGTCCTCCTGGTGCAGCTGTGCTACAGACTACCCGTGTATCTTGAGGGTGGTGCCCAGGCCTGTCCTACTGGCCCTGGCTTCCCTGATGCCACCTTCTCATGGACACAACCCCCACGCCCCCGACGCTTGCTGTCCCCAAAACCTGCAGGGCCATGGGGAGGCTCACATGGCGGGAGTGGCCAGCTCCGGGGCCCTCATCCTTGTGCCGTCTCTCAGCCGCTGGCAGAACTCCTCATTGATCTGCACCCCAGGGTACGGGGAGGCCCCTGACAACAGGAAGGGGAGGTGGGTGGGGAGCAAGCCTCCTGCGGCTCAGCCCAGCCCCCCAAGTCACCCCATCCTGTCCCTTCCCCATCAAGTCACCCCGTCCTGTCCCTTTCCCCATCCGTGGTGGGGTGGAGATGGCTCACCCGACTGTGCTCTACCTGGGACCTGTGGGCAAGTCGCTGCCCTCCCCAGCTCTAGTTCATTTGGTTAAAAGAGGACTGTGCCGCCTGCTTGCTAGGGGTGCCAAGAGCATCCACCCACTGGCGACACGGTAGACATCATGGTTACTGGATCATCAGCGGCGGGGGAGCCGCCTGCAGGCAGTTTCAACAAAGCCTCTCTTGCTTCTCGCTGCTTCTCCTGCTGCTCCCCCCAACCCCTGCTGCTCCCCCCAACCCCTGCTGCTCCTCCCAACCCCTGCTGCTCCCCGTCCTGGACTGCTGAACTCCCTCCTTGGGCCCCTCTGGCTTACCCGAGCTCCCACGCCTCCTACACTCTTCCTGCTCCTTTAGTTTCCGCAGTAGCGTGGATCAGTTGCCACTTGGTGACATTTTAACTTTTTCAAGTTCACTGCCCTACCCTGGCCTGGAGACTTCATCATGCTCGCAGCGGGGCCTGAGTTCCCACATGGAGCTCTTGGAGCTCTTGGAGTAGGCACGTCTGCTGACTGGGCACTGAGCTCCCTCTGGGGCTGCCATGTGAAAAGGCTCAGTCCTGGCTCAGGCTTCAATGTGCACCCCACAGAGGGTGGCCCACGTTGGAGGCAAAGTCCTCTCGGAGGCTGGGCCAGGCTGGGGAGAGGTGGGGGGCCCTTGGTGGCCCACAAACCACCTGCTTCAGAACGACCTGGCACACACCTCCAGGTGCCCAGTCCCTTACTCCAGCAGGGGCGGTCATGTAACCTGCCGCCAGTGACCTCGCCTCCTCTCCCCACCGGCACCCCATCCTGCACTCACCCAGAGAGAAGATCTCCCAGAGAAGCACCCCAAAGGACCACACGTCACTCTGCGTGGTGTACACCTTGTCGAAGATGCTTTCAGGGGCCATCCACTTCAGGGGCAGCCGGGCCTGGGGAGACAGAGGGAAGCTTGTCCCGTGGTGGATGGGGAGACGGAGGGAAGCGTGTCCCGTGGTGGATGGGGAGACGGAGGGAAGCGTGTCCTGCGGTGGATGGGGAGACGGAGGGAAGCGTGTCCCGTGGTGGATGGGAAGAGAGGGCTGAGGCCAGATGCTCTGGCACCCCCTAACAGGGTCCTCTGCCTGGGTTGAAGGTATCTCCCTGCTGCTGTTCTCCTGGGTCTGTCTGGGCCCCTCTCCCTCCCAGCTCTCAGGGGAGGGGTATCGGGGTAGACTGTACACCTTCCTCCAGCCCTAGACCTCCAGCGCAGCCTCCTGATGAAACGCACCCCTGCACACTCTCACCATCTCCCCTGACAAGCACGCTCTGTCCACTCACTGTCCCCACCCTGGAAGCCGGGCCATCACTCCTGACACCCTCCTCCTGGGCTCCTGAGGCATCTCCGCCGCCGGCTGTCTCTCTCCCTCTCATGGTCTCTACCTGGGAGCCCTGAGGGCCAGGGCCCTTCTGGACTGGCCTCTACCTCCACCCCAGCACCCCCACTCCCCTCTCTTCCCAGCTTACGGCATAAGGGAGGTTTTTGTAACTGCAGACAACCTGACACTTCCCTCCAACCAGCGGCCATGCTGGGCTGGATGGCTCATCAAGACCAGGCCCTGGGCCCATCCTGCTCCTCCCCCTCTGACACCCTTTCTCCCCCAGGCGCGGAACCCTGACCCGCCTTGGAGGCTCATCCAGGCACCTGCTGCCCTGCCTGAGCTCCATTCACAAGACACTCCGCCTCCTGAGTTCCACATACTGCACCAAGCGGGTCCATCTCCAGGACAGACACCACAGAATGCTTTGCACTCTCAGGCTCCATAGGGCAGGCCCTGGGAGTCAGGACCCACCGCACGGAGCAAGGCGCGGGGCAAAGACAAGCTCCAATCAGAACAAGCTCCAATCGGAGCACTGCGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGCCCCGCTGGTCAACTCCCATCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACTGGGTCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTGTCTTTCGGAGCACTGGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGTCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTGCCCCAAGATGCCTAAGGTGGGGG
ACCACGTGGGGAGGGAGAGATGTCAGCACACACAGGTCAAGGGTCCGTGTGTTCAGTGGAGTGGGGGACAGAACTGGCACCAGGTGAAGGAATACATCATGACGATGCCAGGGAGATGGGGCTGCCTCACAGGCCGGGGGGGACCAGCCTAGGATTCCCCTCGCGCAGGGACAGGCTCTGACTATCCACACAGCACCTGGAGCAGGCAGTGGAGCTGTGCAGCGGGTGTGTACTCAACAGAAAGATGCAAGGGTGTGGGGACGAGGTGTGGATAGGGGCCCAGGACCCCACCACCCTAGCCTAGCAGCTGAGAGGTGGGCAGAGCCTAGATGGGCTTGGAGGGGCAGCTCGGGCCAGGGACCCAGGGCAGGGGCCAAAGGCCATAGTAGAACAGGGTGGGGAAGGGGCTCACTTGCAGGCCCCTGCCCTGGAGCAGGTCCCCCAGGATCTCCACCAGCTCCGAGAATGCAGGTCTCGCCTTGGGGTCTCCGGACCAGCAGTTCAGCATGATGCGGCGTCTGCAGGATCACGTGGGCTGCTGGACTGCATGCACCCCACCCCCGTCCCAGGACCTTCAGTGCCCCAGCCTTCCTGGGCCCTCTCACCCACTCTGCCCTCCTCCTGACACGTCTCCCACTCTTGTCCAGCTACCCTCGTTCCTCCTTCAAGTGTTAGCCCAGCGTCCCCTCCTGGTGATGCTTTCCCTGAACACTCGGCTCTGTTCCGACAGCGCCCGGCCTTCCCTCCTGGTGTCCTCCTGGTGCAGCTGTGCTACAGACTACCCGTGTATCTTGAGGGTGGTGCCCAGGCCTGTCCTACTGGCCCTGGCTTCCCTGATGCCACCTTCTCATGGACACAACCCCCACGCCCCCGACGCTTGCTGTCCCCAAAACCTGCAGGGCCATGGGGAGGCTCACATGGCGGGAGTGGCCAGCTCCGGGGCCCTCATCCTTGTGCCGTCTCTCAGCCGCTGGCAGAACTCCTCATTGATCTGCACCCCAGGGTACGGGGAGGCCCCTGACAACAGGAAGGGGAGGTGGGTGGGGAGCAAGCCTCCTGCGGCTCAGCCCAGCCCCCCAAGTCACCCCATCCTGTCCCTTCCCCATCAAGTCACCCCGTCCTGTCCCTTTCCCCATCCGTGGTGGGGTGGAGATGGCTCACCCGACTGTGCTCTACCTGGGACCTGTGGGCAAGTCGCTGCCCTCCCCAGCTCTAGTTCATTTGGTTAAAAGAGGACTGTGCCGCCTGCTTGCTAGGGGTGCCAAGAGCATCCACCCACTGGCGACACGGTAGACATCATGGTTACTGGATCATCAGCGGCGGGGGAGCCGCCTGCAGGCAGTTTCAACAAAGCCTCTCTTGCTTCTCGCTGCTTCTCCTGCTGCTCCCCCCAACCCCTGCTGCTCCCCCCAACCCCTGCTGCTCCTCCCAACCCCTGCTGCTCCCCGTCCTGGACTGCTGAACTCCCTCCTTGGGCCCCTCTGGCTTACCCGAGCTCCCACGCCTCCTACACTCTTCCTGCTCCTTTAGTTTCCGCAGTAGCGTGGATCAGTTGCCACTTGGTGACATTTTAACTTTTTCAAGTTCACTGCCCTACCCTGGCCTGGAGACTTCATCATGCTCGCAGCGGGGCCTGAGTTCCCACATGGAGCTCTTGGAGCTCTTGGAGTAGGCACGTCTGCTGACTGGGCACTGAGCTCCCTCTGGGGCTGCCATGTGAAAAGGCTCAGTCCTGGCTCAGGCTTCAATGTGCACCCCACAGAGGGTGGCCCACGTTGGAGGCAAAGTCCTCTCGGAGGCTGGGCCAGGCTGGGGAGAGGTGGGGGGCCCTTGGTGGCCCACAAACCACCTGCTTCAGAACGACCTGGCACACACCTCCAGGTGCCCAGTCCCTTACTCCAGCAGGGGCGGTCATGTAACCTGCCGCCAGTGACCTCGCCTCCTCTCCCCACCGGCACCCCATCCTGCACTCACCCAGAGAGAAGATCTCCCAGAGAAGCACCCCAAAGGACCACACGTCACTCTGCGTGGTGTACACCTTGTCGAAGGTGCTTTCAGGGGCCATCCACTTCAGGGGCAGCCGGGCCTGGGGAGACAGAGGGAAGCTTGTCCCGTGGTGGATGGGGAGACGGAGGGAAGCGTGTCCCGTGGTGGATGGGGAGACGGAGGGAAGCGTGTCCTGCGGTGGATGGGGAGACGGAGGGAAGCGTGTCCCGTGGTGGATGGGAAGAGAGGGCTGAGGCCAGATGCTCTGGCACCCCCTAACAGGGTCCTCTGCCTGGGTTGAAGGTATCTCCCTGCTGCTGTTCTCCTGGGTCTGTCTGGGCCCCTCTCCCTCCCAGCTCTCAGGGGAGGGGTATCGGGGTAGACTGTACACCTTCCTCCAGCCCTAGACCTCCAGCGCAGCCTCCTGATGAAACGCACCCCTGCACACTCTCACCATCTCCCCTGACAAGCACGCTCTGTCCACTCACTGTCCCCACCCTGGAAGCCGGGCCATCACTCCTGACACCCTCCTCCTGGGCTCCTGAGGCATCTCCGCCGCCGGCTGTCTCTCTCCCTCTCATGGTCTCTACCTGGGAGCCCTGAGGGCCAGGGCCCTTCTGGACTGGCCTCTACCTCCACCCCAGCACCCCCACTCCCCTCTCTTCCCAGCTTACGGCATAAGGGAGGTTTTTGTAACTGCAGACAACCTGACACTTCCCTCCAACCAGCGGCCATGCTGGGCTGGATGGCTCATCAAGACCAGGCCCTGGGCCCATCCTGCTCCTCCCCCTCTGACACCCTTTCTCCCCCAGGCGCGGAACCCTGACCCGCCTTGGAGGCTCATCCAGGCACCTGCTGCCCTGCCTGAGCTCCATTCACAAGACACTCCGCCTCCTGAGTTCCACATACTGCACCAAGCGGGTCCATCTCCAGGACAGACACCACAGAATGCTTTGCACTCTCAGGCTCCATAGGGCAGGCCCTGGGAGTCAGGACCCACCGCACGGAGCAAGGCGCGGGGCAAAGACAAGCTCCAATCAGAACAAGCTCCAATCGGAGCACTGCGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGCCCCGCTGGTCAACTCCCATCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACTGGGTCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTGTCTTTCGGAGCACTGGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGTCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTGCCCCAAGATGCCTAAGGTGGGGG
Task1_train_9922
A mutation found in FLT4 (fms related receptor tyrosine kinase 4) on Chromosome 5 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Hereditary lymphedema type I
ACCACGTGGGGAGGGAGAGATGTCAGCACACACAGGTCAAGGGTCCGTGTGTTCAGTGGAGTGGGGGACAGAACTGGCACCAGGTGAAGGAATACATCATGACGATGCCAGGGAGATGGGGCTGCCTCACAGGCCGGGGGGGACCAGCCTAGGATTCCCCTCGCGCAGGGACAGGCTCTGACTATCCACACAGCACCTGGAGCAGGCAGTGGAGCTGTGCAGCGGGTGTGTACTCAACAGAAAGATGCAAGGGTGTGGGGACGAGGTGTGGATAGGGGCCCAGGACCCCACCACCCTAGCCTAGCAGCTGAGAGGTGGGCAGAGCCTAGATGGGCTTGGAGGGGCAGCTCGGGCCAGGGACCCAGGGCAGGGGCCAAAGGCCATAGTAGAACAGGGTGGGGAAGGGGCTCACTTGCAGGCCCCTGCCCTGGAGCAGGTCCCCCAGGATCTCCACCAGCTCCGAGAATGCAGGTCTCGCCTTGGGGTCTCCGGACCAGCAGTTCAGCATGATGCGGCGTCTGCAGGATCACGTGGGCTGCTGGACTGCATGCACCCCACCCCCGTCCCAGGACCTTCAGTGCCCCAGCCTTCCTGGGCCCTCTCACCCACTCTGCCCTCCTCCTGACACGTCTCCCACTCTTGTCCAGCTACCCTCGTTCCTCCTTCAAGTGTTAGCCCAGCGTCCCCTCCTGGTGATGCTTTCCCTGAACACTCGGCTCTGTTCCGACAGCGCCCGGCCTTCCCTCCTGGTGTCCTCCTGGTGCAGCTGTGCTACAGACTACCCGTGTATCTTGAGGGTGGTGCCCAGGCCTGTCCTACTGGCCCTGGCTTCCCTGATGCCACCTTCTCATGGACACAACCCCCACGCCCCCGACGCTTGCTGTCCCCAAAACCTGCAGGGCCATGGGGAGGCTCACATGGCGGGAGTGGCCAGCTCCGGGGCCCTCATCCTTGTGCCGTCTCTCAGCCGCTGGCAGAACTCCTCATTGATCTGCACCCCAGGGTACGGGGAGGCCCCTGACAACAGGAAGGGGAGGTGGGTGGGGAGCAAGCCTCCTGCGGCTCAGCCCAGCCCCCCAAGTCACCCCATCCTGTCCCTTCCCCATCAAGTCACCCCGTCCTGTCCCTTTCCCCATCCGTGGTGGGGTGGAGATGGCTCACCCGACTGTGCTCTACCTGGGACCTGTGGGCAAGTCGCTGCCCTCCCCAGCTCTAGTTCATTTGGTTAAAAGAGGACTGTGCCGCCTGCTTGCTAGGGGTGCCAAGAGCATCCACCCACTGGCGACACGGTAGACATCATGGTTACTGGATCATCAGCGGCGGGGGAGCCGCCTGCAGGCAGTTTCAACAAAGCCTCTCTTGCTTCTCGCTGCTTCTCCTGCTGCTCCCCCCAACCCCTGCTGCTCCCCCCAACCCCTGCTGCTCCTCCCAACCCCTGCTGCTCCCCGTCCTGGACTGCTGAACTCCCTCCTTGGGCCCCTCTGGCTTACCCGAGCTCCCACGCCTCCTACACTCTTCCTGCTCCTTTAGTTTCCGCAGTAGCGTGGATCAGTTGCCACTTGGTGACATTTTAACTTTTTCAAGTTCACTGCCCTACCCTGGCCTGGAGACTTCATCATGCTCGCAGCGGGGCCTGAGTTCCCACATGGAGCTCTTGGAGCTCTTGGAGTAGGCACGTCTGCTGACTGGGCACTGAGCTCCCTCTGGGGCTGCCATGTGAAAAGGCTCAGTCCTGGCTCAGGCTTCAATGTGCACCCCACAGAGGGTGGCCCACGTTGGAGGCAAAGTCCTCTCGGAGGCTGGGCCAGGCTGGGGAGAGGTGGGGGGCCCTTGGTGGCCCACAAACCACCTGCTTCAGAACGACCTGGCACACACCTCCAGGTGCCCAGTCCCTTACTCCAGCAGGGGCGGTCATGTAACCTGCCGCCAGTGACCTCGCCTCCTCTCCCCACCGGCACCCCATCCTGCACTCACCCAGAGAGAAGATCTCCCAGAGAAGCACCCCAAAGGACCACACGTCACTCTGCGTGGTGTACACCTTGTCGAAGATGCTTTCAGGGGCCATCCACTTCAGGGGCAGCCGGGCCTGGGGAGACAGAGGGAAGCTTGTCCCGTGGTGGATGGGGAGACGGAGGGAAGCGTGTCCCGTGGTGGATGGGGAGACGGAGGGAAGCGTGTCCTGCGGTGGATGGGGAGACGGAGGGAAGCGTGTCCCGTGGTGGATGGGAAGAGAGGGCTGAGGCCAGATGCTCTGGCACCCCCTAACAGGGTCCTCTGCCTGGGTTGAAGGTATCTCCCTGCTGCTGTTCTCCTGGGTCTGTCTGGGCCCCTCTCCCTCCCAGCTCTCAGGGGAGGGGTATCGGGGTAGACTGTACACCTTCCTCCAGCCCTAGACCTCCAGCGCAGCCTCCTGATGAAACGCACCCCTGCACACTCTCACCATCTCCCCTGACAAGCACGCTCTGTCCACTCACTGTCCCCACCCTGGAAGCCGGGCCATCACTCCTGACACCCTCCTCCTGGGCTCCTGAGGCATCTCCGCCGCCGGCTGTCTCTCTCCCTCTCATGGTCTCTACCTGGGAGCCCTGAGGGCCAGGGCCCTTCTGGACTGGCCTCTACCTCCACCCCAGCACCCCCACTCCCCTCTCTTCCCAGCTTACGGCATAAGGGAGGTTTTTGTAACTGCAGACAACCTGACACTTCCCTCCAACCAGCGGCCATGCTGGGCTGGATGGCTCATCAAGACCAGGCCCTGGGCCCATCCTGCTCCTCCCCCTCTGACACCCTTTCTCCCCCAGGCGCGGAACCCTGACCCGCCTTGGAGGCTCATCCAGGCACCTGCTGCCCTGCCTGAGCTCCATTCACAAGACACTCCGCCTCCTGAGTTCCACATACTGCACCAAGCGGGTCCATCTCCAGGACAGACACCACAGAATGCTTTGCACTCTCAGGCTCCATAGGGCAGGCCCTGGGAGTCAGGACCCACCGCACGGAGCAAGGCGCGGGGCAAAGACAAGCTCCAATCAGAACAAGCTCCAATCGGAGCACTGCGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGCCCCGCTGGTCAACTCCCATCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACTGGGTCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTGTCTTTCGGAGCACTGGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGTCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTGCCCCAAGATGCCTAAGGTGGGGG
ACCACGTGGGGAGGGAGAGATGTCAGCACACACAGGTCAAGGGTCCGTGTGTTCAGTGGAGTGGGGGACAGAACTGGCACCAGGTGAAGGAATACATCATGACGATGCCAGGGAGATGGGGCTGCCTCACAGGCCGGGGGGGACCAGCCTAGGATTCCCCTCGCGCAGGGACAGGCTCTGACTATCCACACAGCACCTGGAGCAGGCAGTGGAGCTGTGCAGCGGGTGTGTACTCAACAGAAAGATGCAAGGGTGTGGGGACGAGGTGTGGATAGGGGCCCAGGACCCCACCACCCTAGCCTAGCAGCTGAGAGGTGGGCAGAGCCTAGATGGGCTTGGAGGGGCAGCTCGGGCCAGGGACCCAGGGCAGGGGCCAAAGGCCATAGTAGAACAGGGTGGGGAAGGGGCTCACTTGCAGGCCCCTGCCCTGGAGCAGGTCCCCCAGGATCTCCACCAGCTCCGAGAATGCAGGTCTCGCCTTGGGGTCTCCGGACCAGCAGTTCAGCATGATGCGGCGTCTGCAGGATCACGTGGGCTGCTGGACTGCATGCACCCCACCCCCGTCCCAGGACCTTCAGTGCCCCAGCCTTCCTGGGCCCTCTCACCCACTCTGCCCTCCTCCTGACACGTCTCCCACTCTTGTCCAGCTACCCTCGTTCCTCCTTCAAGTGTTAGCCCAGCGTCCCCTCCTGGTGATGCTTTCCCTGAACACTCGGCTCTGTTCCGACAGCGCCCGGCCTTCCCTCCTGGTGTCCTCCTGGTGCAGCTGTGCTACAGACTACCCGTGTATCTTGAGGGTGGTGCCCAGGCCTGTCCTACTGGCCCTGGCTTCCCTGATGCCACCTTCTCATGGACACAACCCCCACGCCCCCGACGCTTGCTGTCCCCAAAACCTGCAGGGCCATGGGGAGGCTCACATGGCGGGAGTGGCCAGCTCCGGGGCCCTCATCCTTGTGCCGTCTCTCAGCCGCTGGCAGAACTCCTCATTGATCTGCACCCCAGGGTACGGGGAGGCCCCTGACAACAGGAAGGGGAGGTGGGTGGGGAGCAAGCCTCCTGCGGCTCAGCCCAGCCCCCCAAGTCACCCCATCCTGTCCCTTCCCCATCAAGTCACCCCGTCCTGTCCCTTTCCCCATCCGTGGTGGGGTGGAGATGGCTCACCCGACTGTGCTCTACCTGGGACCTGTGGGCAAGTCGCTGCCCTCCCCAGCTCTAGTTCATTTGGTTAAAAGAGGACTGTGCCGCCTGCTTGCTAGGGGTGCCAAGAGCATCCACCCACTGGCGACACGGTAGACATCATGGTTACTGGATCATCAGCGGCGGGGGAGCCGCCTGCAGGCAGTTTCAACAAAGCCTCTCTTGCTTCTCGCTGCTTCTCCTGCTGCTCCCCCCAACCCCTGCTGCTCCCCCCAACCCCTGCTGCTCCTCCCAACCCCTGCTGCTCCCCGTCCTGGACTGCTGAACTCCCTCCTTGGGCCCCTCTGGCTTACCCGAGCTCCCACGCCTCCTACACTCTTCCTGCTCCTTTAGTTTCCGCAGTAGCGTGGATCAGTTGCCACTTGGTGACATTTTAACTTTTTCAAGTTCACTGCCCTACCCTGGCCTGGAGACTTCATCATGCTCGCAGCGGGGCCTGAGTTCCCACATGGAGCTCTTGGAGCTCTTGGAGTAGGCACGTCTGCTGACTGGGCACTGAGCTCCCTCTGGGGCTGCCATGTGAAAAGGCTCAGTCCTGGCTCAGGCTTCAATGTGCACCCCACAGAGGGTGGCCCACGTTGGAGGCAAAGTCCTCTCGGAGGCTGGGCCAGGCTGGGGAGAGGTGGGGGGCCCTTGGTGGCCCACAAACCACCTGCTTCAGAACGACCTGGCACACACCTCCAGGTGCCCAGTCCCTTACTCCAGCAGGGGCGGTCATGTAACCTGCCGCCAGTGACCTCGCCTCCTCTCCCCACCGGCACCCCATCCTGCACTCACCCAGAGAGAAGATCTCCCAGAGAAGCACCCCAAAGGACCACACGTCACTCTGCGTGGTGTACACCTTGTCGAAGGTGCTTTCAGGGGCCATCCACTTCAGGGGCAGCCGGGCCTGGGGAGACAGAGGGAAGCTTGTCCCGTGGTGGATGGGGAGACGGAGGGAAGCGTGTCCCGTGGTGGATGGGGAGACGGAGGGAAGCGTGTCCTGCGGTGGATGGGGAGACGGAGGGAAGCGTGTCCCGTGGTGGATGGGAAGAGAGGGCTGAGGCCAGATGCTCTGGCACCCCCTAACAGGGTCCTCTGCCTGGGTTGAAGGTATCTCCCTGCTGCTGTTCTCCTGGGTCTGTCTGGGCCCCTCTCCCTCCCAGCTCTCAGGGGAGGGGTATCGGGGTAGACTGTACACCTTCCTCCAGCCCTAGACCTCCAGCGCAGCCTCCTGATGAAACGCACCCCTGCACACTCTCACCATCTCCCCTGACAAGCACGCTCTGTCCACTCACTGTCCCCACCCTGGAAGCCGGGCCATCACTCCTGACACCCTCCTCCTGGGCTCCTGAGGCATCTCCGCCGCCGGCTGTCTCTCTCCCTCTCATGGTCTCTACCTGGGAGCCCTGAGGGCCAGGGCCCTTCTGGACTGGCCTCTACCTCCACCCCAGCACCCCCACTCCCCTCTCTTCCCAGCTTACGGCATAAGGGAGGTTTTTGTAACTGCAGACAACCTGACACTTCCCTCCAACCAGCGGCCATGCTGGGCTGGATGGCTCATCAAGACCAGGCCCTGGGCCCATCCTGCTCCTCCCCCTCTGACACCCTTTCTCCCCCAGGCGCGGAACCCTGACCCGCCTTGGAGGCTCATCCAGGCACCTGCTGCCCTGCCTGAGCTCCATTCACAAGACACTCCGCCTCCTGAGTTCCACATACTGCACCAAGCGGGTCCATCTCCAGGACAGACACCACAGAATGCTTTGCACTCTCAGGCTCCATAGGGCAGGCCCTGGGAGTCAGGACCCACCGCACGGAGCAAGGCGCGGGGCAAAGACAAGCTCCAATCAGAACAAGCTCCAATCGGAGCACTGCGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGCCCCGCTGGTCAACTCCCATCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACTGGGTCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTGTCTTTCGGAGCACTGGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGTCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTGCCCCAAGATGCCTAAGGTGGGGG
Task1_train_9923
A variant affecting Chromosome 5, within the gene FLT4 (fms related receptor tyrosine kinase 4), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Hereditary lymphedema type I
GGGTCTGTCTGGGCCCCTCTCCCTCCCAGCTCTCAGGGGAGGGGTATCGGGGTAGACTGTACACCTTCCTCCAGCCCTAGACCTCCAGCGCAGCCTCCTGATGAAACGCACCCCTGCACACTCTCACCATCTCCCCTGACAAGCACGCTCTGTCCACTCACTGTCCCCACCCTGGAAGCCGGGCCATCACTCCTGACACCCTCCTCCTGGGCTCCTGAGGCATCTCCGCCGCCGGCTGTCTCTCTCCCTCTCATGGTCTCTACCTGGGAGCCCTGAGGGCCAGGGCCCTTCTGGACTGGCCTCTACCTCCACCCCAGCACCCCCACTCCCCTCTCTTCCCAGCTTACGGCATAAGGGAGGTTTTTGTAACTGCAGACAACCTGACACTTCCCTCCAACCAGCGGCCATGCTGGGCTGGATGGCTCATCAAGACCAGGCCCTGGGCCCATCCTGCTCCTCCCCCTCTGACACCCTTTCTCCCCCAGGCGCGGAACCCTGACCCGCCTTGGAGGCTCATCCAGGCACCTGCTGCCCTGCCTGAGCTCCATTCACAAGACACTCCGCCTCCTGAGTTCCACATACTGCACCAAGCGGGTCCATCTCCAGGACAGACACCACAGAATGCTTTGCACTCTCAGGCTCCATAGGGCAGGCCCTGGGAGTCAGGACCCACCGCACGGAGCAAGGCGCGGGGCAAAGACAAGCTCCAATCAGAACAAGCTCCAATCGGAGCACTGCGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGCCCCGCTGGTCAACTCCCATCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACTGGGTCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTGTCTTTCGGAGCACTGGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGTCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTGCCCCAAGATGCCTAAGGTGGGGGGTGGTCAGTAGGGTCCCCTGGGGGCAGGAGGTCCACCAGCAGCTGGGCACATGGCTGGCCAACCAAGGAGCTCACCTCACCCTGTGCCAGCCCTCCCTCTCCTGGACAGGCAGTCTGTGGTCCCACCCCTTCACCTGTTCCGCCCCACGTTCCCTCTCCTCAATGGCCTGCACTCACACTGCCCTTGCGGACGTAGTCGGGGTCTTTGTAGATGTCCCGGGCAAGGCCAAAGTCACAGATCTTCACCACGTCGCTTTCCGACAGCAGAATGTTCCGAGCAGCCAGGTCTCTGTGGATGCACTGGGGTGCGGGGAGGCGGCAGGGGGGCTGTCAGTGCAGGCCCCTGGGGTAATACCCACACCCGAAACTCCAGGGTGCCCAAGCAGTGGGGACCATGGGGATGCCCTGCCTGAACTGTGCTCCTTTGGGGAAGGATTCCCATCCATCTCCAGGACTCATCATGGAGAGAGCTTGTGGAATTGTGGGGACAGCAGAGAAAGTTGTGGAGTCAAACAGACTCTGCTGCTGACCAGCCAAGAGACCTTGGGAGGTCAACTCCATGCTTTGGGCAGAGTTTCCTCCTCTGCAAAGTGGGAGAGACACTGATGGACCACAGAGCCATTGCAGGGTGAGGCCAGTACCAAGCACTTCTTGGCGACTGGTGGGGATGCACCCTTTTCCCGTCTGAAGGGCCTTCGGGGGAAGCTCACCTTTCGGGAAGCCAGGAACTCCATCCCTCTGGCCACCTGGAAGCTGTAGCAGACAAGATCTTCCATGGTCAGCGGGCTCAGCCACAGGTCCTCAGCTACACAGTGGAGCCAGGTGGGCTCAGGAGGCGCCTCCTCCGCGGCCTCCATCTACCCAGCCCCAGGGAACAGCTAACAAGCATGTCAGCCCCTCTCCTGCCCCTCAGACTCTGGGACACCCACATCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACACACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGACTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGACTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGTACACCCACGTCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAACCTCTGGGACACCCACGTCCTATTCCAGAGCACCCTCTCCTGCCACTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTATTCCAGAGTACCCTCTCCTGCCACTCAGCCTCTGGGACACCCACATCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTACTCCAGAGCACCCTCTCCTGCTCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGGACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCAGTAAATACTGTT
GGGTCTGTCTGGGCCCCTCTCCCTCCCAGCTCTCAGGGGAGGGGTATCGGGGTAGACTGTACACCTTCCTCCAGCCCTAGACCTCCAGCGCAGCCTCCTGATGAAACGCACCCCTGCACACTCTCACCATCTCCCCTGACAAGCACGCTCTGTCCACTCACTGTCCCCACCCTGGAAGCCGGGCCATCACTCCTGACACCCTCCTCCTGGGCTCCTGAGGCATCTCCGCCGCCGGCTGTCTCTCTCCCTCTCATGGTCTCTACCTGGGAGCCCTGAGGGCCAGGGCCCTTCTGGACTGGCCTCTACCTCCACCCCAGCACCCCCACTCCCCTCTCTTCCCAGCTTACGGCATAAGGGAGGTTTTTGTAACTGCAGACAACCTGACACTTCCCTCCAACCAGCGGCCATGCTGGGCTGGATGGCTCATCAAGACCAGGCCCTGGGCCCATCCTGCTCCTCCCCCTCTGACACCCTTTCTCCCCCAGGCGCGGAACCCTGACCCGCCTTGGAGGCTCATCCAGGCACCTGCTGCCCTGCCTGAGCTCCATTCACAAGACACTCCGCCTCCTGAGTTCCACATACTGCACCAAGCGGGTCCATCTCCAGGACAGACACCACAGAATGCTTTGCACTCTCAGGCTCCATAGGGCAGGCCCTGGGAGTCAGGACCCACCGCACGGAGCAAGGCGCGGGGCAAAGACAAGCTCCAATCAGAACAAGCTCCAATCGGAGCACTGCGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGCCCCGCTGGTCAACTCCCATCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACTGGGTCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTGTCTTTCGGAGCACTGGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGTCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTGCCCCAAGATGCCTAAGGTGGGGGGTGGTCAGTAGGGTCCCCTGGGGGCAGGAGGTCCACCAGCAGCTGGGCACATGGCTGGCCAACCAAGGAGCTCACCTCACCCTGTGCCAGCCCTCCCTCTCCTGGACAGGCAGTCTGTGGTCCCACCCCTTCACCTGTTCCGCCCCACGTTCCCTCTCCTCAATGGCCTGCACTCACACTGCCCTTGCGGACGTAGTCGGGGTCTTTGTAGATGTCCCGGGCAAGGCCAAAGTCACAGATCTTCACCACGTCGCTTTCCGACAGCGGAATGTTCCGAGCAGCCAGGTCTCTGTGGATGCACTGGGGTGCGGGGAGGCGGCAGGGGGGCTGTCAGTGCAGGCCCCTGGGGTAATACCCACACCCGAAACTCCAGGGTGCCCAAGCAGTGGGGACCATGGGGATGCCCTGCCTGAACTGTGCTCCTTTGGGGAAGGATTCCCATCCATCTCCAGGACTCATCATGGAGAGAGCTTGTGGAATTGTGGGGACAGCAGAGAAAGTTGTGGAGTCAAACAGACTCTGCTGCTGACCAGCCAAGAGACCTTGGGAGGTCAACTCCATGCTTTGGGCAGAGTTTCCTCCTCTGCAAAGTGGGAGAGACACTGATGGACCACAGAGCCATTGCAGGGTGAGGCCAGTACCAAGCACTTCTTGGCGACTGGTGGGGATGCACCCTTTTCCCGTCTGAAGGGCCTTCGGGGGAAGCTCACCTTTCGGGAAGCCAGGAACTCCATCCCTCTGGCCACCTGGAAGCTGTAGCAGACAAGATCTTCCATGGTCAGCGGGCTCAGCCACAGGTCCTCAGCTACACAGTGGAGCCAGGTGGGCTCAGGAGGCGCCTCCTCCGCGGCCTCCATCTACCCAGCCCCAGGGAACAGCTAACAAGCATGTCAGCCCCTCTCCTGCCCCTCAGACTCTGGGACACCCACATCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACACACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGACTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGACTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGTACACCCACGTCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAACCTCTGGGACACCCACGTCCTATTCCAGAGCACCCTCTCCTGCCACTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTATTCCAGAGTACCCTCTCCTGCCACTCAGCCTCTGGGACACCCACATCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTACTCCAGAGCACCCTCTCCTGCTCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGGACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCAGTAAATACTGTT
Task1_train_9924
This is a variant in FLT4 (fms related receptor tyrosine kinase 4), located on Chromosome 5. Is this mutation a likely cause of disease or not?
Pathogenic; not provided
TGGGCCCCTCTCCCTCCCAGCTCTCAGGGGAGGGGTATCGGGGTAGACTGTACACCTTCCTCCAGCCCTAGACCTCCAGCGCAGCCTCCTGATGAAACGCACCCCTGCACACTCTCACCATCTCCCCTGACAAGCACGCTCTGTCCACTCACTGTCCCCACCCTGGAAGCCGGGCCATCACTCCTGACACCCTCCTCCTGGGCTCCTGAGGCATCTCCGCCGCCGGCTGTCTCTCTCCCTCTCATGGTCTCTACCTGGGAGCCCTGAGGGCCAGGGCCCTTCTGGACTGGCCTCTACCTCCACCCCAGCACCCCCACTCCCCTCTCTTCCCAGCTTACGGCATAAGGGAGGTTTTTGTAACTGCAGACAACCTGACACTTCCCTCCAACCAGCGGCCATGCTGGGCTGGATGGCTCATCAAGACCAGGCCCTGGGCCCATCCTGCTCCTCCCCCTCTGACACCCTTTCTCCCCCAGGCGCGGAACCCTGACCCGCCTTGGAGGCTCATCCAGGCACCTGCTGCCCTGCCTGAGCTCCATTCACAAGACACTCCGCCTCCTGAGTTCCACATACTGCACCAAGCGGGTCCATCTCCAGGACAGACACCACAGAATGCTTTGCACTCTCAGGCTCCATAGGGCAGGCCCTGGGAGTCAGGACCCACCGCACGGAGCAAGGCGCGGGGCAAAGACAAGCTCCAATCAGAACAAGCTCCAATCGGAGCACTGCGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGCCCCGCTGGTCAACTCCCATCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACTGGGTCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTGTCTTTCGGAGCACTGGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGTCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTGCCCCAAGATGCCTAAGGTGGGGGGTGGTCAGTAGGGTCCCCTGGGGGCAGGAGGTCCACCAGCAGCTGGGCACATGGCTGGCCAACCAAGGAGCTCACCTCACCCTGTGCCAGCCCTCCCTCTCCTGGACAGGCAGTCTGTGGTCCCACCCCTTCACCTGTTCCGCCCCACGTTCCCTCTCCTCAATGGCCTGCACTCACACTGCCCTTGCGGACGTAGTCGGGGTCTTTGTAGATGTCCCGGGCAAGGCCAAAGTCACAGATCTTCACCACGTCGCTTTCCGACAGCAGAATGTTCCGAGCAGCCAGGTCTCTGTGGATGCACTGGGGTGCGGGGAGGCGGCAGGGGGGCTGTCAGTGCAGGCCCCTGGGGTAATACCCACACCCGAAACTCCAGGGTGCCCAAGCAGTGGGGACCATGGGGATGCCCTGCCTGAACTGTGCTCCTTTGGGGAAGGATTCCCATCCATCTCCAGGACTCATCATGGAGAGAGCTTGTGGAATTGTGGGGACAGCAGAGAAAGTTGTGGAGTCAAACAGACTCTGCTGCTGACCAGCCAAGAGACCTTGGGAGGTCAACTCCATGCTTTGGGCAGAGTTTCCTCCTCTGCAAAGTGGGAGAGACACTGATGGACCACAGAGCCATTGCAGGGTGAGGCCAGTACCAAGCACTTCTTGGCGACTGGTGGGGATGCACCCTTTTCCCGTCTGAAGGGCCTTCGGGGGAAGCTCACCTTTCGGGAAGCCAGGAACTCCATCCCTCTGGCCACCTGGAAGCTGTAGCAGACAAGATCTTCCATGGTCAGCGGGCTCAGCCACAGGTCCTCAGCTACACAGTGGAGCCAGGTGGGCTCAGGAGGCGCCTCCTCCGCGGCCTCCATCTACCCAGCCCCAGGGAACAGCTAACAAGCATGTCAGCCCCTCTCCTGCCCCTCAGACTCTGGGACACCCACATCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACACACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGACTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGACTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGTACACCCACGTCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAACCTCTGGGACACCCACGTCCTATTCCAGAGCACCCTCTCCTGCCACTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTATTCCAGAGTACCCTCTCCTGCCACTCAGCCTCTGGGACACCCACATCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTACTCCAGAGCACCCTCTCCTGCTCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGGACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCAGTAAATACTGTTGCTCTGTGG
TGGGCCCCTCTCCCTCCCAGCTCTCAGGGGAGGGGTATCGGGGTAGACTGTACACCTTCCTCCAGCCCTAGACCTCCAGCGCAGCCTCCTGATGAAACGCACCCCTGCACACTCTCACCATCTCCCCTGACAAGCACGCTCTGTCCACTCACTGTCCCCACCCTGGAAGCCGGGCCATCACTCCTGACACCCTCCTCCTGGGCTCCTGAGGCATCTCCGCCGCCGGCTGTCTCTCTCCCTCTCATGGTCTCTACCTGGGAGCCCTGAGGGCCAGGGCCCTTCTGGACTGGCCTCTACCTCCACCCCAGCACCCCCACTCCCCTCTCTTCCCAGCTTACGGCATAAGGGAGGTTTTTGTAACTGCAGACAACCTGACACTTCCCTCCAACCAGCGGCCATGCTGGGCTGGATGGCTCATCAAGACCAGGCCCTGGGCCCATCCTGCTCCTCCCCCTCTGACACCCTTTCTCCCCCAGGCGCGGAACCCTGACCCGCCTTGGAGGCTCATCCAGGCACCTGCTGCCCTGCCTGAGCTCCATTCACAAGACACTCCGCCTCCTGAGTTCCACATACTGCACCAAGCGGGTCCATCTCCAGGACAGACACCACAGAATGCTTTGCACTCTCAGGCTCCATAGGGCAGGCCCTGGGAGTCAGGACCCACCGCACGGAGCAAGGCGCGGGGCAAAGACAAGCTCCAATCAGAACAAGCTCCAATCGGAGCACTGCGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGCCCCGCTGGTCAACTCCCATCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACTGGGTCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTGTCTTTCGGAGCACTGGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGTCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTGCCCCAAGATGCCTAAGGTGGGGGGTGGTCAGTAGGGTCCCCTGGGGGCAGGAGGTCCACCAGCAGCTGGGCACATGGCTGGCCAACCAAGGAGCTCACCTCACCCTGTGCCAGCCCTCCCTCTCCTGGACAGGCAGTCTGTGGTCCCACCCCTTCACCTGTTCCGCCCCACGTTCCCTCTCCTCAATGGCCTGCACTCACACTGCCCTTGCGGACGTAGTCGGGGTCTTTGTAGATGTCCCGGGCAAGGCCAAAGTCACAGATCTTCACCACGTCGCTTTCCGACAGCAGAATGTTCGGAGCAGCCAGGTCTCTGTGGATGCACTGGGGTGCGGGGAGGCGGCAGGGGGGCTGTCAGTGCAGGCCCCTGGGGTAATACCCACACCCGAAACTCCAGGGTGCCCAAGCAGTGGGGACCATGGGGATGCCCTGCCTGAACTGTGCTCCTTTGGGGAAGGATTCCCATCCATCTCCAGGACTCATCATGGAGAGAGCTTGTGGAATTGTGGGGACAGCAGAGAAAGTTGTGGAGTCAAACAGACTCTGCTGCTGACCAGCCAAGAGACCTTGGGAGGTCAACTCCATGCTTTGGGCAGAGTTTCCTCCTCTGCAAAGTGGGAGAGACACTGATGGACCACAGAGCCATTGCAGGGTGAGGCCAGTACCAAGCACTTCTTGGCGACTGGTGGGGATGCACCCTTTTCCCGTCTGAAGGGCCTTCGGGGGAAGCTCACCTTTCGGGAAGCCAGGAACTCCATCCCTCTGGCCACCTGGAAGCTGTAGCAGACAAGATCTTCCATGGTCAGCGGGCTCAGCCACAGGTCCTCAGCTACACAGTGGAGCCAGGTGGGCTCAGGAGGCGCCTCCTCCGCGGCCTCCATCTACCCAGCCCCAGGGAACAGCTAACAAGCATGTCAGCCCCTCTCCTGCCCCTCAGACTCTGGGACACCCACATCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACACACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGACTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGACTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGTACACCCACGTCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAACCTCTGGGACACCCACGTCCTATTCCAGAGCACCCTCTCCTGCCACTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTATTCCAGAGTACCCTCTCCTGCCACTCAGCCTCTGGGACACCCACATCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTACTCCAGAGCACCCTCTCCTGCTCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGGACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCAGTAAATACTGTTGCTCTGTGG
Task1_train_9925
Here’s a variant in FLT4 (fms related receptor tyrosine kinase 4) located on Chromosome 5. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Hereditary lymphedema type I
AGCTCTCAGGGGAGGGGTATCGGGGTAGACTGTACACCTTCCTCCAGCCCTAGACCTCCAGCGCAGCCTCCTGATGAAACGCACCCCTGCACACTCTCACCATCTCCCCTGACAAGCACGCTCTGTCCACTCACTGTCCCCACCCTGGAAGCCGGGCCATCACTCCTGACACCCTCCTCCTGGGCTCCTGAGGCATCTCCGCCGCCGGCTGTCTCTCTCCCTCTCATGGTCTCTACCTGGGAGCCCTGAGGGCCAGGGCCCTTCTGGACTGGCCTCTACCTCCACCCCAGCACCCCCACTCCCCTCTCTTCCCAGCTTACGGCATAAGGGAGGTTTTTGTAACTGCAGACAACCTGACACTTCCCTCCAACCAGCGGCCATGCTGGGCTGGATGGCTCATCAAGACCAGGCCCTGGGCCCATCCTGCTCCTCCCCCTCTGACACCCTTTCTCCCCCAGGCGCGGAACCCTGACCCGCCTTGGAGGCTCATCCAGGCACCTGCTGCCCTGCCTGAGCTCCATTCACAAGACACTCCGCCTCCTGAGTTCCACATACTGCACCAAGCGGGTCCATCTCCAGGACAGACACCACAGAATGCTTTGCACTCTCAGGCTCCATAGGGCAGGCCCTGGGAGTCAGGACCCACCGCACGGAGCAAGGCGCGGGGCAAAGACAAGCTCCAATCAGAACAAGCTCCAATCGGAGCACTGCGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGCCCCGCTGGTCAACTCCCATCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACTGGGTCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTGTCTTTCGGAGCACTGGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGTCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTGCCCCAAGATGCCTAAGGTGGGGGGTGGTCAGTAGGGTCCCCTGGGGGCAGGAGGTCCACCAGCAGCTGGGCACATGGCTGGCCAACCAAGGAGCTCACCTCACCCTGTGCCAGCCCTCCCTCTCCTGGACAGGCAGTCTGTGGTCCCACCCCTTCACCTGTTCCGCCCCACGTTCCCTCTCCTCAATGGCCTGCACTCACACTGCCCTTGCGGACGTAGTCGGGGTCTTTGTAGATGTCCCGGGCAAGGCCAAAGTCACAGATCTTCACCACGTCGCTTTCCGACAGCAGAATGTTCCGAGCAGCCAGGTCTCTGTGGATGCACTGGGGTGCGGGGAGGCGGCAGGGGGGCTGTCAGTGCAGGCCCCTGGGGTAATACCCACACCCGAAACTCCAGGGTGCCCAAGCAGTGGGGACCATGGGGATGCCCTGCCTGAACTGTGCTCCTTTGGGGAAGGATTCCCATCCATCTCCAGGACTCATCATGGAGAGAGCTTGTGGAATTGTGGGGACAGCAGAGAAAGTTGTGGAGTCAAACAGACTCTGCTGCTGACCAGCCAAGAGACCTTGGGAGGTCAACTCCATGCTTTGGGCAGAGTTTCCTCCTCTGCAAAGTGGGAGAGACACTGATGGACCACAGAGCCATTGCAGGGTGAGGCCAGTACCAAGCACTTCTTGGCGACTGGTGGGGATGCACCCTTTTCCCGTCTGAAGGGCCTTCGGGGGAAGCTCACCTTTCGGGAAGCCAGGAACTCCATCCCTCTGGCCACCTGGAAGCTGTAGCAGACAAGATCTTCCATGGTCAGCGGGCTCAGCCACAGGTCCTCAGCTACACAGTGGAGCCAGGTGGGCTCAGGAGGCGCCTCCTCCGCGGCCTCCATCTACCCAGCCCCAGGGAACAGCTAACAAGCATGTCAGCCCCTCTCCTGCCCCTCAGACTCTGGGACACCCACATCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACACACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGACTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGACTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGTACACCCACGTCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAACCTCTGGGACACCCACGTCCTATTCCAGAGCACCCTCTCCTGCCACTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTATTCCAGAGTACCCTCTCCTGCCACTCAGCCTCTGGGACACCCACATCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTACTCCAGAGCACCCTCTCCTGCTCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGGACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCAGTAAATACTGTTGCTCTGTGGGGGCCGGGCACCTGCTGC
AGCTCTCAGGGGAGGGGTATCGGGGTAGACTGTACACCTTCCTCCAGCCCTAGACCTCCAGCGCAGCCTCCTGATGAAACGCACCCCTGCACACTCTCACCATCTCCCCTGACAAGCACGCTCTGTCCACTCACTGTCCCCACCCTGGAAGCCGGGCCATCACTCCTGACACCCTCCTCCTGGGCTCCTGAGGCATCTCCGCCGCCGGCTGTCTCTCTCCCTCTCATGGTCTCTACCTGGGAGCCCTGAGGGCCAGGGCCCTTCTGGACTGGCCTCTACCTCCACCCCAGCACCCCCACTCCCCTCTCTTCCCAGCTTACGGCATAAGGGAGGTTTTTGTAACTGCAGACAACCTGACACTTCCCTCCAACCAGCGGCCATGCTGGGCTGGATGGCTCATCAAGACCAGGCCCTGGGCCCATCCTGCTCCTCCCCCTCTGACACCCTTTCTCCCCCAGGCGCGGAACCCTGACCCGCCTTGGAGGCTCATCCAGGCACCTGCTGCCCTGCCTGAGCTCCATTCACAAGACACTCCGCCTCCTGAGTTCCACATACTGCACCAAGCGGGTCCATCTCCAGGACAGACACCACAGAATGCTTTGCACTCTCAGGCTCCATAGGGCAGGCCCTGGGAGTCAGGACCCACCGCACGGAGCAAGGCGCGGGGCAAAGACAAGCTCCAATCAGAACAAGCTCCAATCGGAGCACTGCGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGCCCCGCTGGTCAACTCCCATCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACTGGGTCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTGTCTTTCGGAGCACTGGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGTCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTGCCCCAAGATGCCTAAGGTGGGGGGTGGTCAGTAGGGTCCCCTGGGGGCAGGAGGTCCACCAGCAGCTGGGCACATGGCTGGCCAACCAAGGAGCTCACCTCACCCTGTGCCAGCCCTCCCTCTCCTGGACAGGCAGTCTGTGGTCCCACCCCTTCACCTGTTCCGCCCCACGTTCCCTCTCCTCAATGGCCTGCACTCACACTGCCCTTGCGGACGTAGTCGGGGTCTTTGTAGATGTCCCGGGCAAGGCCAAAGTCACAGATCTTCACCACGTCGCTTTCCGACAGCAGAATGTTCCGAGCAGCCAGGTCTCTGCGGATGCACTGGGGTGCGGGGAGGCGGCAGGGGGGCTGTCAGTGCAGGCCCCTGGGGTAATACCCACACCCGAAACTCCAGGGTGCCCAAGCAGTGGGGACCATGGGGATGCCCTGCCTGAACTGTGCTCCTTTGGGGAAGGATTCCCATCCATCTCCAGGACTCATCATGGAGAGAGCTTGTGGAATTGTGGGGACAGCAGAGAAAGTTGTGGAGTCAAACAGACTCTGCTGCTGACCAGCCAAGAGACCTTGGGAGGTCAACTCCATGCTTTGGGCAGAGTTTCCTCCTCTGCAAAGTGGGAGAGACACTGATGGACCACAGAGCCATTGCAGGGTGAGGCCAGTACCAAGCACTTCTTGGCGACTGGTGGGGATGCACCCTTTTCCCGTCTGAAGGGCCTTCGGGGGAAGCTCACCTTTCGGGAAGCCAGGAACTCCATCCCTCTGGCCACCTGGAAGCTGTAGCAGACAAGATCTTCCATGGTCAGCGGGCTCAGCCACAGGTCCTCAGCTACACAGTGGAGCCAGGTGGGCTCAGGAGGCGCCTCCTCCGCGGCCTCCATCTACCCAGCCCCAGGGAACAGCTAACAAGCATGTCAGCCCCTCTCCTGCCCCTCAGACTCTGGGACACCCACATCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACACACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGACTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGACTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGTACACCCACGTCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAACCTCTGGGACACCCACGTCCTATTCCAGAGCACCCTCTCCTGCCACTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTATTCCAGAGTACCCTCTCCTGCCACTCAGCCTCTGGGACACCCACATCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTACTCCAGAGCACCCTCTCCTGCTCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGGACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCAGTAAATACTGTTGCTCTGTGGGGGCCGGGCACCTGCTGC
Task1_train_9926
This variant affects gene FLT4 (fms related receptor tyrosine kinase 4) located on Chromosome 5. Evaluate its biological effect and specify any disease association.
Pathogenic; Hereditary lymphedema type I
GCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGTACACCCACGTCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAACCTCTGGGACACCCACGTCCTATTCCAGAGCACCCTCTCCTGCCACTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTATTCCAGAGTACCCTCTCCTGCCACTCAGCCTCTGGGACACCCACATCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTACTCCAGAGCACCCTCTCCTGCTCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGGACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCAGTAAATACTGTTGCTCTGTGGGGGCCGGGCACCTGCTGCTTGGCCCTCCACTGCCTGCCTTGTCTGCAGGGCAATTTCCTATTCAGCCTCTGATGACCCAGTCAATCGTAAAACATCTGTGTGAAAATTGTCCCCGAGGTGTCTTCCCTTCCTAAGGCAGAGCCCATTCCACACTCTCCCATGAAAGCCCCCGCTGAGGACCCCAGGCTGGGGTGCCTGATCACGGGATATAACCGGGCCCGTCAGGCACTAGGAAAAGGGAAGAGGCCAGGCTCTCACCTTCTTGGTCTGGAGAAGCCCGCCTCGCTCCGCCCTCGGTCTTCGAGAACCGCGCGAAGAGGACCCTGTCGCTGCTCCCCGGCCGCCTCCGATCCAGCCTGGCGAGCTCCACCATGGCGCGGAAGCGTCCGCGCTGCTCGGGAGACTTCTCCTGCGGATGCACGAAGCTGGCTCGAGGGCGCCCAGTCGTCCGCCGCAGAGGCGCCTCCATTCCCCCGCCGCCCGCGGCGCCCCGCAGGCCGCCCGCTCACCGCGCAGGGGCTGAAGGCGTCCCGCTTGGCGCGCAGGAAGTTGGAGAGGTTGCCGTACTTGCAGAACTCCACGATCACCATGAGGGGGCCTGCGGCGGGACCGGGCGGCGGCCGTGCGTTCGGAACCCGGGGCGCGCTGCGGGCGCGCTCCGCGTTTGCACCCGCGCCCCCTCCCGCCCGCGGCGCCCCGCGCCCGGGGTCTCGCCGTCCCAGCGGGCCGCCCGCTCCGTACCCTGCGGCTTGGTGCACGCCCCGAGGAGGTTGACCACGTTGAGGTGGTTGCCGATGTGAATGAGGATCTTGAGCTCCGACATCAGCGCGCGGTGCTCGCTGGCCGTGGCGCCCTCTGGAGGGGACACGGGCCTCACACCGGCCCCGACCCTGGCAGGTCCCCGTTCCCCGCCACCCGGCGCTTTTGGGAGGGGGAGGGTTACTAAGGGCCCCCAGGACATCCTGCCGGCCCCACTGAGGCAGAGGGGGTTCGGGTGGTCCCTCGGCTCTGAAGCCCGCAGCCTCCCTGTAGAATCTCGGATGAGACTGGCTTCCAGCCTCAGTCTCCCTTCCCGAGTTGCCGTCCCACCGGCCCACCCCGAGCTGCTGCTCCTCACCAGCTAGGCTGCCCCTTCCGCCCGCTGACCCCACACCTTTCAGCATTTTCACGGCCACGGTGTCACAGCTGCTGCCCTTGTGGATGCCGAAAGCGGAGGCTTCCACCACCTTCCCGAAGGCGCCGTAGCCGAGCACTCTCCCTGTCGGGGCAGGGGGCCAGTTGCAGGTGAGCTGTACGGGGTGAGCGTGGAGACAGGTGGGCGGCGGGGGAGCCCCGTGCAGAGGTCCAGGAGGACAGGCCTGGCAGCAGGAGGAGCGTGGGGAGCCACAGCGGGAAGACAAGGAGAGGTGGACAGGAGGCCGCGCATCCTCCCGGGTAGGTGTGACAGATACACCCTGCTCAGGGTGGCAGCAGGTGACCTCAGGGAGCCTGGGAACTGGGGACCCTGGCTGAGGTTCTAGGTACCCACGCCCACAGGGACAGGTCAGGCCAGGCGGAACTTCCTGGTGCAAGTTTTGAAAATGGAGGGATTCAGGCACTCCGGCCTGCAGCAGGTGGGTCGGGCAGGAGGTGTGGGTTGGGCAGGCTGGTGCTGGCCTCACCCAGGTGCAGCCGCTCTCGGGGGAATTCCCACTGGCTGGCATCGTAGGACAGGTATTCGCATTGCTCCTCCAGAGGCACCTCCCCGGGGTCCATGATGATGGACAGGTAGCCCGTCTTGATGTCTGCGTGGGCCGGCTGCGGGGAGGGGACAGGGAGGAGTGGGGCAGCTCACTGATTTGGCCATACCACTGTGGCTTGGGCAGAACTTTGCCCAGGACAGATGGCACTTCCTGCGGGGTTCTCAGTCAAGGAGGGGACAGAAAAAAAGACAGACAACCTCTGCGGGGTTGGAGCCCAGCGTGAAGGGCAGGGAGGCTTCCCAGGAAACAAGGCTGCCAGGTGAACTAGGGCGGGCACCTTATTCTTTATCTTAGGGGCGGCCAGGGTGGGGAAGGCCTGAGAGAGACTCCATCAGGAGCGGGGAGGGACACTCACCCTCCTCATGTTACAGAAGATGAGGAGGAGGAGGACCCAGAAGAAGACAGCGATGACGCCGGTACCGACAAGGATCACGATCTCCATGCTGCCCTTATCCTCGGAGCCTGCGTGGGCAGAAAGGGGCCGGCGTGTGTGTGTGTGTGTGTAAGAGCGTGCACCTGCAGGCAGCACCCCTTCTGGTGGCCACGACTTGCCCAAGGTGGCCACAAGAAAGCGTTAACTGGGGACGGGAAGGGAGTTGAGGGGTGCAGCCTGAGGCCAGACCTTCCACGGCCACGCTGGCGGAGGAGTTGACGCAGCCCTTGGCGTTGCACACGCTGCACAGATAGCGTCCCGCATCCTCCTCGCGCACGCGCTGGATGCTCAGCTTCTGGTTGGAGTCCGCCAAGTCGACTCCTGCAGGGGGTGGGGTGGAGGTGCGGGTCCACCTGGGTTTGGGATCGTCGGCCTCGCGGGCCTCCGGACCTGCCCTTCGCCAGGGCCACCCTCCCTACCAGACTTTTCCTCCAGCAGCCTCTCGTCTTTGTACCACACGATGCTGGGCGCGTGCGCTCCGGCCACCAAGCACTGCATCTCCAGCGAGTCGCTCACGTTCACCAGGAGGTCGGTCAAGTTCTGCGTGAGCCGAGGGGCTTCCAGGGCTGGGGGCAGGGGTCGAGAGGGAGCTAAGTGGAGCTGCACTTAGCAGGAGGACCCTCTTTGGGCTGGGAGCAGAGGTAGAAAAGGATCCCTGGAAGCTGGACTTAGGGGTTGTGCGCCGGGCAGGAGCGCGGCGCGCCTCCGCAGGGGGCGGCGGATAGTCAGGAGGGGTAGCTCCTGCAGGCCAGGGCTGTGAATAGACCTCCCAGGGGCGAGCCACGCCGGGGCAAAGGCAGAGGCAGCTACTGCTAGAAGAGAGCGCGTCCCCGCCCTCCCCGCGGCCAGCCTCACCCTGCACCGACAGGTACTTCTTGTGGCAGTGCTTGTCATGGCTGCGCCGGTCTTGCACTTCGCACACATAGTGGCCCTCGTGCTCGGGCGCGACGCGGGGGATACTCAGGCTGAGCGTGGCGTGGCGCGCCCCAGGTGCCACCTCCTCCAGGCTGGCGGCCAGAGGGGTGGCGAACAGATGCACGT
GCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGTACACCCACGTCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAACCTCTGGGACACCCACGTCCTATTCCAGAGCACCCTCTCCTGCCACTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTATTCCAGAGTACCCTCTCCTGCCACTCAGCCTCTGGGACACCCACATCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTACTCCAGAGCACCCTCTCCTGCTCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGGACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCAGTAAATACTGTTGCTCTGTGGGGGCCGGGCACCTGCTGCTTGGCCCTCCACTGCCTGCCTTGTCTGCAGGGCAATTTCCTATTCAGCCTCTGATGACCCAGTCAATCGTAAAACATCTGTGTGAAAATTGTCCCCGAGGTGTCTTCCCTTCCTAAGGCAGAGCCCATTCCACACTCTCCCATGAAAGCCCCCGCTGAGGACCCCAGGCTGGGGTGCCTGATCACGGGATATAACCGGGCCCGTCAGGCACTAGGAAAAGGGAAGAGGCCAGGCTCTCACCTTCTTGGTCTGGAGAAGCCCGCCTCGCTCCGCCCTCGGTCTTCGAGAACCGCGCGAAGAGGACCCTGTCGCTGCTCCCCGGCCGCCTCCGATCCAGCCTGGCGAGCTCCACCATGGCGCGGAAGCGTCCGCGCTGCTCGGGAGACTTCTCCTGCGGATGCACGAAGCTGGCTCGAGGGCGCCCAGTCGTCCGCCGCAGAGGCGCCTCCATTCCCCCGCCGCCCGCGGCGCCCCGCAGGCCGCCCGCTCACCGCGCAGGGGCTGAAGGCGTCCCGCTTGGCGCGCAGGAAGTTGGAGAGGTTGCCGTACTTGCAGAACTCCACGATCACCATGAGGGGGCCTGCGGCGGGACCGGGCGGCGGCCGTGCGTTCGGAACCCGGGGCGCGCTGCGGGCGCGCTCCGCGTTTGCACCCGCGCCCCCTCCCGCCCGCGGCGCCCCGCGCCCGGGGTCTCGCCGTCCCAGCGGGCCGCCCGCTCCGTACCCTGCGGCTTGGTGCACGCCCCGAGGAGGTTGACCACGTTGAGGTGGTTGCCGATGTGAATGAGGATCTTGAGCTCCGACATCAGCGCGCGGTGCTCGCTGGCCGTGGCGCCCTCTGGAGGGGACACGGGCCTCACACCGGCCCCGACCCTGGCAGGTCCCCGTTCCCCGCCACCCGGCGCTTTTGGGAGGGGGAGGGTTACTAAGGGCCCCCAGGACATCCTGCCGGCCCCACTGAGGCAGAGGGGGTTCGGGTGGTCCCTCGGCTCTGAAGCCCGCAGCCTCCCTGTAGAATCTCGGATGAGACTGGCTTCCAGCCTCAGTCTCCCTTCCCGAGTTGCCGTCCCACCGGCCCACCCCGAGCTGCTGCTCCTCACCAGCTAGGCTGCCCCTTCCGCCCGCTGACCCCACACCTTTCAGCATTTTCATGGCCACGGTGTCACAGCTGCTGCCCTTGTGGATGCCGAAAGCGGAGGCTTCCACCACCTTCCCGAAGGCGCCGTAGCCGAGCACTCTCCCTGTCGGGGCAGGGGGCCAGTTGCAGGTGAGCTGTACGGGGTGAGCGTGGAGACAGGTGGGCGGCGGGGGAGCCCCGTGCAGAGGTCCAGGAGGACAGGCCTGGCAGCAGGAGGAGCGTGGGGAGCCACAGCGGGAAGACAAGGAGAGGTGGACAGGAGGCCGCGCATCCTCCCGGGTAGGTGTGACAGATACACCCTGCTCAGGGTGGCAGCAGGTGACCTCAGGGAGCCTGGGAACTGGGGACCCTGGCTGAGGTTCTAGGTACCCACGCCCACAGGGACAGGTCAGGCCAGGCGGAACTTCCTGGTGCAAGTTTTGAAAATGGAGGGATTCAGGCACTCCGGCCTGCAGCAGGTGGGTCGGGCAGGAGGTGTGGGTTGGGCAGGCTGGTGCTGGCCTCACCCAGGTGCAGCCGCTCTCGGGGGAATTCCCACTGGCTGGCATCGTAGGACAGGTATTCGCATTGCTCCTCCAGAGGCACCTCCCCGGGGTCCATGATGATGGACAGGTAGCCCGTCTTGATGTCTGCGTGGGCCGGCTGCGGGGAGGGGACAGGGAGGAGTGGGGCAGCTCACTGATTTGGCCATACCACTGTGGCTTGGGCAGAACTTTGCCCAGGACAGATGGCACTTCCTGCGGGGTTCTCAGTCAAGGAGGGGACAGAAAAAAAGACAGACAACCTCTGCGGGGTTGGAGCCCAGCGTGAAGGGCAGGGAGGCTTCCCAGGAAACAAGGCTGCCAGGTGAACTAGGGCGGGCACCTTATTCTTTATCTTAGGGGCGGCCAGGGTGGGGAAGGCCTGAGAGAGACTCCATCAGGAGCGGGGAGGGACACTCACCCTCCTCATGTTACAGAAGATGAGGAGGAGGAGGACCCAGAAGAAGACAGCGATGACGCCGGTACCGACAAGGATCACGATCTCCATGCTGCCCTTATCCTCGGAGCCTGCGTGGGCAGAAAGGGGCCGGCGTGTGTGTGTGTGTGTGTAAGAGCGTGCACCTGCAGGCAGCACCCCTTCTGGTGGCCACGACTTGCCCAAGGTGGCCACAAGAAAGCGTTAACTGGGGACGGGAAGGGAGTTGAGGGGTGCAGCCTGAGGCCAGACCTTCCACGGCCACGCTGGCGGAGGAGTTGACGCAGCCCTTGGCGTTGCACACGCTGCACAGATAGCGTCCCGCATCCTCCTCGCGCACGCGCTGGATGCTCAGCTTCTGGTTGGAGTCCGCCAAGTCGACTCCTGCAGGGGGTGGGGTGGAGGTGCGGGTCCACCTGGGTTTGGGATCGTCGGCCTCGCGGGCCTCCGGACCTGCCCTTCGCCAGGGCCACCCTCCCTACCAGACTTTTCCTCCAGCAGCCTCTCGTCTTTGTACCACACGATGCTGGGCGCGTGCGCTCCGGCCACCAAGCACTGCATCTCCAGCGAGTCGCTCACGTTCACCAGGAGGTCGGTCAAGTTCTGCGTGAGCCGAGGGGCTTCCAGGGCTGGGGGCAGGGGTCGAGAGGGAGCTAAGTGGAGCTGCACTTAGCAGGAGGACCCTCTTTGGGCTGGGAGCAGAGGTAGAAAAGGATCCCTGGAAGCTGGACTTAGGGGTTGTGCGCCGGGCAGGAGCGCGGCGCGCCTCCGCAGGGGGCGGCGGATAGTCAGGAGGGGTAGCTCCTGCAGGCCAGGGCTGTGAATAGACCTCCCAGGGGCGAGCCACGCCGGGGCAAAGGCAGAGGCAGCTACTGCTAGAAGAGAGCGCGTCCCCGCCCTCCCCGCGGCCAGCCTCACCCTGCACCGACAGGTACTTCTTGTGGCAGTGCTTGTCATGGCTGCGCCGGTCTTGCACTTCGCACACATAGTGGCCCTCGTGCTCGGGCGCGACGCGGGGGATACTCAGGCTGAGCGTGGCGTGGCGCGCCCCAGGTGCCACCTCCTCCAGGCTGGCGGCCAGAGGGGTGGCGAACAGATGCACGT
Task1_train_9927
This variant affects gene FLT4 (fms related receptor tyrosine kinase 4) located on Chromosome 5. Evaluate its biological effect and specify any disease association.
Pathogenic; Hereditary lymphedema type I
CCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGTACACCCACGTCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAACCTCTGGGACACCCACGTCCTATTCCAGAGCACCCTCTCCTGCCACTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTATTCCAGAGTACCCTCTCCTGCCACTCAGCCTCTGGGACACCCACATCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTACTCCAGAGCACCCTCTCCTGCTCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGGACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCAGTAAATACTGTTGCTCTGTGGGGGCCGGGCACCTGCTGCTTGGCCCTCCACTGCCTGCCTTGTCTGCAGGGCAATTTCCTATTCAGCCTCTGATGACCCAGTCAATCGTAAAACATCTGTGTGAAAATTGTCCCCGAGGTGTCTTCCCTTCCTAAGGCAGAGCCCATTCCACACTCTCCCATGAAAGCCCCCGCTGAGGACCCCAGGCTGGGGTGCCTGATCACGGGATATAACCGGGCCCGTCAGGCACTAGGAAAAGGGAAGAGGCCAGGCTCTCACCTTCTTGGTCTGGAGAAGCCCGCCTCGCTCCGCCCTCGGTCTTCGAGAACCGCGCGAAGAGGACCCTGTCGCTGCTCCCCGGCCGCCTCCGATCCAGCCTGGCGAGCTCCACCATGGCGCGGAAGCGTCCGCGCTGCTCGGGAGACTTCTCCTGCGGATGCACGAAGCTGGCTCGAGGGCGCCCAGTCGTCCGCCGCAGAGGCGCCTCCATTCCCCCGCCGCCCGCGGCGCCCCGCAGGCCGCCCGCTCACCGCGCAGGGGCTGAAGGCGTCCCGCTTGGCGCGCAGGAAGTTGGAGAGGTTGCCGTACTTGCAGAACTCCACGATCACCATGAGGGGGCCTGCGGCGGGACCGGGCGGCGGCCGTGCGTTCGGAACCCGGGGCGCGCTGCGGGCGCGCTCCGCGTTTGCACCCGCGCCCCCTCCCGCCCGCGGCGCCCCGCGCCCGGGGTCTCGCCGTCCCAGCGGGCCGCCCGCTCCGTACCCTGCGGCTTGGTGCACGCCCCGAGGAGGTTGACCACGTTGAGGTGGTTGCCGATGTGAATGAGGATCTTGAGCTCCGACATCAGCGCGCGGTGCTCGCTGGCCGTGGCGCCCTCTGGAGGGGACACGGGCCTCACACCGGCCCCGACCCTGGCAGGTCCCCGTTCCCCGCCACCCGGCGCTTTTGGGAGGGGGAGGGTTACTAAGGGCCCCCAGGACATCCTGCCGGCCCCACTGAGGCAGAGGGGGTTCGGGTGGTCCCTCGGCTCTGAAGCCCGCAGCCTCCCTGTAGAATCTCGGATGAGACTGGCTTCCAGCCTCAGTCTCCCTTCCCGAGTTGCCGTCCCACCGGCCCACCCCGAGCTGCTGCTCCTCACCAGCTAGGCTGCCCCTTCCGCCCGCTGACCCCACACCTTTCAGCATTTTCACGGCCACGGTGTCACAGCTGCTGCCCTTGTGGATGCCGAAAGCGGAGGCTTCCACCACCTTCCCGAAGGCGCCGTAGCCGAGCACTCTCCCTGTCGGGGCAGGGGGCCAGTTGCAGGTGAGCTGTACGGGGTGAGCGTGGAGACAGGTGGGCGGCGGGGGAGCCCCGTGCAGAGGTCCAGGAGGACAGGCCTGGCAGCAGGAGGAGCGTGGGGAGCCACAGCGGGAAGACAAGGAGAGGTGGACAGGAGGCCGCGCATCCTCCCGGGTAGGTGTGACAGATACACCCTGCTCAGGGTGGCAGCAGGTGACCTCAGGGAGCCTGGGAACTGGGGACCCTGGCTGAGGTTCTAGGTACCCACGCCCACAGGGACAGGTCAGGCCAGGCGGAACTTCCTGGTGCAAGTTTTGAAAATGGAGGGATTCAGGCACTCCGGCCTGCAGCAGGTGGGTCGGGCAGGAGGTGTGGGTTGGGCAGGCTGGTGCTGGCCTCACCCAGGTGCAGCCGCTCTCGGGGGAATTCCCACTGGCTGGCATCGTAGGACAGGTATTCGCATTGCTCCTCCAGAGGCACCTCCCCGGGGTCCATGATGATGGACAGGTAGCCCGTCTTGATGTCTGCGTGGGCCGGCTGCGGGGAGGGGACAGGGAGGAGTGGGGCAGCTCACTGATTTGGCCATACCACTGTGGCTTGGGCAGAACTTTGCCCAGGACAGATGGCACTTCCTGCGGGGTTCTCAGTCAAGGAGGGGACAGAAAAAAAGACAGACAACCTCTGCGGGGTTGGAGCCCAGCGTGAAGGGCAGGGAGGCTTCCCAGGAAACAAGGCTGCCAGGTGAACTAGGGCGGGCACCTTATTCTTTATCTTAGGGGCGGCCAGGGTGGGGAAGGCCTGAGAGAGACTCCATCAGGAGCGGGGAGGGACACTCACCCTCCTCATGTTACAGAAGATGAGGAGGAGGAGGACCCAGAAGAAGACAGCGATGACGCCGGTACCGACAAGGATCACGATCTCCATGCTGCCCTTATCCTCGGAGCCTGCGTGGGCAGAAAGGGGCCGGCGTGTGTGTGTGTGTGTGTAAGAGCGTGCACCTGCAGGCAGCACCCCTTCTGGTGGCCACGACTTGCCCAAGGTGGCCACAAGAAAGCGTTAACTGGGGACGGGAAGGGAGTTGAGGGGTGCAGCCTGAGGCCAGACCTTCCACGGCCACGCTGGCGGAGGAGTTGACGCAGCCCTTGGCGTTGCACACGCTGCACAGATAGCGTCCCGCATCCTCCTCGCGCACGCGCTGGATGCTCAGCTTCTGGTTGGAGTCCGCCAAGTCGACTCCTGCAGGGGGTGGGGTGGAGGTGCGGGTCCACCTGGGTTTGGGATCGTCGGCCTCGCGGGCCTCCGGACCTGCCCTTCGCCAGGGCCACCCTCCCTACCAGACTTTTCCTCCAGCAGCCTCTCGTCTTTGTACCACACGATGCTGGGCGCGTGCGCTCCGGCCACCAAGCACTGCATCTCCAGCGAGTCGCTCACGTTCACCAGGAGGTCGGTCAAGTTCTGCGTGAGCCGAGGGGCTTCCAGGGCTGGGGGCAGGGGTCGAGAGGGAGCTAAGTGGAGCTGCACTTAGCAGGAGGACCCTCTTTGGGCTGGGAGCAGAGGTAGAAAAGGATCCCTGGAAGCTGGACTTAGGGGTTGTGCGCCGGGCAGGAGCGCGGCGCGCCTCCGCAGGGGGCGGCGGATAGTCAGGAGGGGTAGCTCCTGCAGGCCAGGGCTGTGAATAGACCTCCCAGGGGCGAGCCACGCCGGGGCAAAGGCAGAGGCAGCTACTGCTAGAAGAGAGCGCGTCCCCGCCCTCCCCGCGGCCAGCCTCACCCTGCACCGACAGGTACTTCTTGTGGCAGTGCTTGTCATGGCTGCGCCGGTCTTGCACTTCGCACACATAGTGGCCCTCGTGCTCGGGCGCGACGCGGGGGATACTCAGGCTGAGCGTGGCGTGGCGCGCCCCAGGTGCCACCTCCTCCAGGCTGGCGGCCAGAGGGGTGGCGAACAGATGCACGTTCTTGCAGTCGAGCAGAAGCGGGTTCCCGTGCGCATCGTGCAGCGTGGACAGGTTGAGGCGGT
CCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGTACACCCACGTCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAACCTCTGGGACACCCACGTCCTATTCCAGAGCACCCTCTCCTGCCACTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTATTCCAGAGTACCCTCTCCTGCCACTCAGCCTCTGGGACACCCACATCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTACTCCAGAGCACCCTCTCCTGCTCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGGACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCAGTAAATACTGTTGCTCTGTGGGGGCCGGGCACCTGCTGCTTGGCCCTCCACTGCCTGCCTTGTCTGCAGGGCAATTTCCTATTCAGCCTCTGATGACCCAGTCAATCGTAAAACATCTGTGTGAAAATTGTCCCCGAGGTGTCTTCCCTTCCTAAGGCAGAGCCCATTCCACACTCTCCCATGAAAGCCCCCGCTGAGGACCCCAGGCTGGGGTGCCTGATCACGGGATATAACCGGGCCCGTCAGGCACTAGGAAAAGGGAAGAGGCCAGGCTCTCACCTTCTTGGTCTGGAGAAGCCCGCCTCGCTCCGCCCTCGGTCTTCGAGAACCGCGCGAAGAGGACCCTGTCGCTGCTCCCCGGCCGCCTCCGATCCAGCCTGGCGAGCTCCACCATGGCGCGGAAGCGTCCGCGCTGCTCGGGAGACTTCTCCTGCGGATGCACGAAGCTGGCTCGAGGGCGCCCAGTCGTCCGCCGCAGAGGCGCCTCCATTCCCCCGCCGCCCGCGGCGCCCCGCAGGCCGCCCGCTCACCGCGCAGGGGCTGAAGGCGTCCCGCTTGGCGCGCAGGAAGTTGGAGAGGTTGCCGTACTTGCAGAACTCCACGATCACCATGAGGGGGCCTGCGGCGGGACCGGGCGGCGGCCGTGCGTTCGGAACCCGGGGCGCGCTGCGGGCGCGCTCCGCGTTTGCACCCGCGCCCCCTCCCGCCCGCGGCGCCCCGCGCCCGGGGTCTCGCCGTCCCAGCGGGCCGCCCGCTCCGTACCCTGCGGCTTGGTGCACGCCCCGAGGAGGTTGACCACGTTGAGGTGGTTGCCGATGTGAATGAGGATCTTGAGCTCCGACATCAGCGCGCGGTGCTCGCTGGCCGTGGCGCCCTCTGGAGGGGACACGGGCCTCACACCGGCCCCGACCCTGGCAGGTCCCCGTTCCCCGCCACCCGGCGCTTTTGGGAGGGGGAGGGTTACTAAGGGCCCCCAGGACATCCTGCCGGCCCCACTGAGGCAGAGGGGGTTCGGGTGGTCCCTCGGCTCTGAAGCCCGCAGCCTCCCTGTAGAATCTCGGATGAGACTGGCTTCCAGCCTCAGTCTCCCTTCCCGAGTTGCCGTCCCACCGGCCCACCCCGAGCTGCTGCTCCTCACCAGCTAGGCTGCCCCTTCCGCCCGCTGACCCCACACCTTTCAGCATTTTCACGGCCACGGTGTCACAGCTGCTGCCCTTGTGGATGCCGAAAGCGGAGGCTTCCACCACCTTCCTGAAGGCGCCGTAGCCGAGCACTCTCCCTGTCGGGGCAGGGGGCCAGTTGCAGGTGAGCTGTACGGGGTGAGCGTGGAGACAGGTGGGCGGCGGGGGAGCCCCGTGCAGAGGTCCAGGAGGACAGGCCTGGCAGCAGGAGGAGCGTGGGGAGCCACAGCGGGAAGACAAGGAGAGGTGGACAGGAGGCCGCGCATCCTCCCGGGTAGGTGTGACAGATACACCCTGCTCAGGGTGGCAGCAGGTGACCTCAGGGAGCCTGGGAACTGGGGACCCTGGCTGAGGTTCTAGGTACCCACGCCCACAGGGACAGGTCAGGCCAGGCGGAACTTCCTGGTGCAAGTTTTGAAAATGGAGGGATTCAGGCACTCCGGCCTGCAGCAGGTGGGTCGGGCAGGAGGTGTGGGTTGGGCAGGCTGGTGCTGGCCTCACCCAGGTGCAGCCGCTCTCGGGGGAATTCCCACTGGCTGGCATCGTAGGACAGGTATTCGCATTGCTCCTCCAGAGGCACCTCCCCGGGGTCCATGATGATGGACAGGTAGCCCGTCTTGATGTCTGCGTGGGCCGGCTGCGGGGAGGGGACAGGGAGGAGTGGGGCAGCTCACTGATTTGGCCATACCACTGTGGCTTGGGCAGAACTTTGCCCAGGACAGATGGCACTTCCTGCGGGGTTCTCAGTCAAGGAGGGGACAGAAAAAAAGACAGACAACCTCTGCGGGGTTGGAGCCCAGCGTGAAGGGCAGGGAGGCTTCCCAGGAAACAAGGCTGCCAGGTGAACTAGGGCGGGCACCTTATTCTTTATCTTAGGGGCGGCCAGGGTGGGGAAGGCCTGAGAGAGACTCCATCAGGAGCGGGGAGGGACACTCACCCTCCTCATGTTACAGAAGATGAGGAGGAGGAGGACCCAGAAGAAGACAGCGATGACGCCGGTACCGACAAGGATCACGATCTCCATGCTGCCCTTATCCTCGGAGCCTGCGTGGGCAGAAAGGGGCCGGCGTGTGTGTGTGTGTGTGTAAGAGCGTGCACCTGCAGGCAGCACCCCTTCTGGTGGCCACGACTTGCCCAAGGTGGCCACAAGAAAGCGTTAACTGGGGACGGGAAGGGAGTTGAGGGGTGCAGCCTGAGGCCAGACCTTCCACGGCCACGCTGGCGGAGGAGTTGACGCAGCCCTTGGCGTTGCACACGCTGCACAGATAGCGTCCCGCATCCTCCTCGCGCACGCGCTGGATGCTCAGCTTCTGGTTGGAGTCCGCCAAGTCGACTCCTGCAGGGGGTGGGGTGGAGGTGCGGGTCCACCTGGGTTTGGGATCGTCGGCCTCGCGGGCCTCCGGACCTGCCCTTCGCCAGGGCCACCCTCCCTACCAGACTTTTCCTCCAGCAGCCTCTCGTCTTTGTACCACACGATGCTGGGCGCGTGCGCTCCGGCCACCAAGCACTGCATCTCCAGCGAGTCGCTCACGTTCACCAGGAGGTCGGTCAAGTTCTGCGTGAGCCGAGGGGCTTCCAGGGCTGGGGGCAGGGGTCGAGAGGGAGCTAAGTGGAGCTGCACTTAGCAGGAGGACCCTCTTTGGGCTGGGAGCAGAGGTAGAAAAGGATCCCTGGAAGCTGGACTTAGGGGTTGTGCGCCGGGCAGGAGCGCGGCGCGCCTCCGCAGGGGGCGGCGGATAGTCAGGAGGGGTAGCTCCTGCAGGCCAGGGCTGTGAATAGACCTCCCAGGGGCGAGCCACGCCGGGGCAAAGGCAGAGGCAGCTACTGCTAGAAGAGAGCGCGTCCCCGCCCTCCCCGCGGCCAGCCTCACCCTGCACCGACAGGTACTTCTTGTGGCAGTGCTTGTCATGGCTGCGCCGGTCTTGCACTTCGCACACATAGTGGCCCTCGTGCTCGGGCGCGACGCGGGGGATACTCAGGCTGAGCGTGGCGTGGCGCGCCCCAGGTGCCACCTCCTCCAGGCTGGCGGCCAGAGGGGTGGCGAACAGATGCACGTTCTTGCAGTCGAGCAGAAGCGGGTTCCCGTGCGCATCGTGCAGCGTGGACAGGTTGAGGCGGT
Task1_train_9928
This sequence change occurs on Chromosome 5, altering FLT4 (fms related receptor tyrosine kinase 4). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; not specified
AGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGTACACCCACGTCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAACCTCTGGGACACCCACGTCCTATTCCAGAGCACCCTCTCCTGCCACTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTATTCCAGAGTACCCTCTCCTGCCACTCAGCCTCTGGGACACCCACATCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTACTCCAGAGCACCCTCTCCTGCTCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGGACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCAGTAAATACTGTTGCTCTGTGGGGGCCGGGCACCTGCTGCTTGGCCCTCCACTGCCTGCCTTGTCTGCAGGGCAATTTCCTATTCAGCCTCTGATGACCCAGTCAATCGTAAAACATCTGTGTGAAAATTGTCCCCGAGGTGTCTTCCCTTCCTAAGGCAGAGCCCATTCCACACTCTCCCATGAAAGCCCCCGCTGAGGACCCCAGGCTGGGGTGCCTGATCACGGGATATAACCGGGCCCGTCAGGCACTAGGAAAAGGGAAGAGGCCAGGCTCTCACCTTCTTGGTCTGGAGAAGCCCGCCTCGCTCCGCCCTCGGTCTTCGAGAACCGCGCGAAGAGGACCCTGTCGCTGCTCCCCGGCCGCCTCCGATCCAGCCTGGCGAGCTCCACCATGGCGCGGAAGCGTCCGCGCTGCTCGGGAGACTTCTCCTGCGGATGCACGAAGCTGGCTCGAGGGCGCCCAGTCGTCCGCCGCAGAGGCGCCTCCATTCCCCCGCCGCCCGCGGCGCCCCGCAGGCCGCCCGCTCACCGCGCAGGGGCTGAAGGCGTCCCGCTTGGCGCGCAGGAAGTTGGAGAGGTTGCCGTACTTGCAGAACTCCACGATCACCATGAGGGGGCCTGCGGCGGGACCGGGCGGCGGCCGTGCGTTCGGAACCCGGGGCGCGCTGCGGGCGCGCTCCGCGTTTGCACCCGCGCCCCCTCCCGCCCGCGGCGCCCCGCGCCCGGGGTCTCGCCGTCCCAGCGGGCCGCCCGCTCCGTACCCTGCGGCTTGGTGCACGCCCCGAGGAGGTTGACCACGTTGAGGTGGTTGCCGATGTGAATGAGGATCTTGAGCTCCGACATCAGCGCGCGGTGCTCGCTGGCCGTGGCGCCCTCTGGAGGGGACACGGGCCTCACACCGGCCCCGACCCTGGCAGGTCCCCGTTCCCCGCCACCCGGCGCTTTTGGGAGGGGGAGGGTTACTAAGGGCCCCCAGGACATCCTGCCGGCCCCACTGAGGCAGAGGGGGTTCGGGTGGTCCCTCGGCTCTGAAGCCCGCAGCCTCCCTGTAGAATCTCGGATGAGACTGGCTTCCAGCCTCAGTCTCCCTTCCCGAGTTGCCGTCCCACCGGCCCACCCCGAGCTGCTGCTCCTCACCAGCTAGGCTGCCCCTTCCGCCCGCTGACCCCACACCTTTCAGCATTTTCACGGCCACGGTGTCACAGCTGCTGCCCTTGTGGATGCCGAAAGCGGAGGCTTCCACCACCTTCCCGAAGGCGCCGTAGCCGAGCACTCTCCCTGTCGGGGCAGGGGGCCAGTTGCAGGTGAGCTGTACGGGGTGAGCGTGGAGACAGGTGGGCGGCGGGGGAGCCCCGTGCAGAGGTCCAGGAGGACAGGCCTGGCAGCAGGAGGAGCGTGGGGAGCCACAGCGGGAAGACAAGGAGAGGTGGACAGGAGGCCGCGCATCCTCCCGGGTAGGTGTGACAGATACACCCTGCTCAGGGTGGCAGCAGGTGACCTCAGGGAGCCTGGGAACTGGGGACCCTGGCTGAGGTTCTAGGTACCCACGCCCACAGGGACAGGTCAGGCCAGGCGGAACTTCCTGGTGCAAGTTTTGAAAATGGAGGGATTCAGGCACTCCGGCCTGCAGCAGGTGGGTCGGGCAGGAGGTGTGGGTTGGGCAGGCTGGTGCTGGCCTCACCCAGGTGCAGCCGCTCTCGGGGGAATTCCCACTGGCTGGCATCGTAGGACAGGTATTCGCATTGCTCCTCCAGAGGCACCTCCCCGGGGTCCATGATGATGGACAGGTAGCCCGTCTTGATGTCTGCGTGGGCCGGCTGCGGGGAGGGGACAGGGAGGAGTGGGGCAGCTCACTGATTTGGCCATACCACTGTGGCTTGGGCAGAACTTTGCCCAGGACAGATGGCACTTCCTGCGGGGTTCTCAGTCAAGGAGGGGACAGAAAAAAAGACAGACAACCTCTGCGGGGTTGGAGCCCAGCGTGAAGGGCAGGGAGGCTTCCCAGGAAACAAGGCTGCCAGGTGAACTAGGGCGGGCACCTTATTCTTTATCTTAGGGGCGGCCAGGGTGGGGAAGGCCTGAGAGAGACTCCATCAGGAGCGGGGAGGGACACTCACCCTCCTCATGTTACAGAAGATGAGGAGGAGGAGGACCCAGAAGAAGACAGCGATGACGCCGGTACCGACAAGGATCACGATCTCCATGCTGCCCTTATCCTCGGAGCCTGCGTGGGCAGAAAGGGGCCGGCGTGTGTGTGTGTGTGTGTAAGAGCGTGCACCTGCAGGCAGCACCCCTTCTGGTGGCCACGACTTGCCCAAGGTGGCCACAAGAAAGCGTTAACTGGGGACGGGAAGGGAGTTGAGGGGTGCAGCCTGAGGCCAGACCTTCCACGGCCACGCTGGCGGAGGAGTTGACGCAGCCCTTGGCGTTGCACACGCTGCACAGATAGCGTCCCGCATCCTCCTCGCGCACGCGCTGGATGCTCAGCTTCTGGTTGGAGTCCGCCAAGTCGACTCCTGCAGGGGGTGGGGTGGAGGTGCGGGTCCACCTGGGTTTGGGATCGTCGGCCTCGCGGGCCTCCGGACCTGCCCTTCGCCAGGGCCACCCTCCCTACCAGACTTTTCCTCCAGCAGCCTCTCGTCTTTGTACCACACGATGCTGGGCGCGTGCGCTCCGGCCACCAAGCACTGCATCTCCAGCGAGTCGCTCACGTTCACCAGGAGGTCGGTCAAGTTCTGCGTGAGCCGAGGGGCTTCCAGGGCTGGGGGCAGGGGTCGAGAGGGAGCTAAGTGGAGCTGCACTTAGCAGGAGGACCCTCTTTGGGCTGGGAGCAGAGGTAGAAAAGGATCCCTGGAAGCTGGACTTAGGGGTTGTGCGCCGGGCAGGAGCGCGGCGCGCCTCCGCAGGGGGCGGCGGATAGTCAGGAGGGGTAGCTCCTGCAGGCCAGGGCTGTGAATAGACCTCCCAGGGGCGAGCCACGCCGGGGCAAAGGCAGAGGCAGCTACTGCTAGAAGAGAGCGCGTCCCCGCCCTCCCCGCGGCCAGCCTCACCCTGCACCGACAGGTACTTCTTGTGGCAGTGCTTGTCATGGCTGCGCCGGTCTTGCACTTCGCACACATAGTGGCCCTCGTGCTCGGGCGCGACGCGGGGGATACTCAGGCTGAGCGTGGCGTGGCGCGCCCCAGGTGCCACCTCCTCCAGGCTGGCGGCCAGAGGGGTGGCGAACAGATGCACGTTCTTGCAGTCGAGCAGAAGCGGGTTCCCGTGCGCATCGTGCAGCGTGGACAGGTTGAGGCGGTACCAGC
AGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGTACACCCACGTCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAACCTCTGGGACACCCACGTCCTATTCCAGAGCACCCTCTCCTGCCACTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTATTCCAGAGTACCCTCTCCTGCCACTCAGCCTCTGGGACACCCACATCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTACTCCAGAGCACCCTCTCCTGCTCCTCAGCCTCTGGGACACCCACGTCCTACTCCAGAGGACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCAGTAAATACTGTTGCTCTGTGGGGGCCGGGCACCTGCTGCTTGGCCCTCCACTGCCTGCCTTGTCTGCAGGGCAATTTCCTATTCAGCCTCTGATGACCCAGTCAATCGTAAAACATCTGTGTGAAAATTGTCCCCGAGGTGTCTTCCCTTCCTAAGGCAGAGCCCATTCCACACTCTCCCATGAAAGCCCCCGCTGAGGACCCCAGGCTGGGGTGCCTGATCACGGGATATAACCGGGCCCGTCAGGCACTAGGAAAAGGGAAGAGGCCAGGCTCTCACCTTCTTGGTCTGGAGAAGCCCGCCTCGCTCCGCCCTCGGTCTTCGAGAACCGCGCGAAGAGGACCCTGTCGCTGCTCCCCGGCCGCCTCCGATCCAGCCTGGCGAGCTCCACCATGGCGCGGAAGCGTCCGCGCTGCTCGGGAGACTTCTCCTGCGGATGCACGAAGCTGGCTCGAGGGCGCCCAGTCGTCCGCCGCAGAGGCGCCTCCATTCCCCCGCCGCCCGCGGCGCCCCGCAGGCCGCCCGCTCACCGCGCAGGGGCTGAAGGCGTCCCGCTTGGCGCGCAGGAAGTTGGAGAGGTTGCCGTACTTGCAGAACTCCACGATCACCATGAGGGGGCCTGCGGCGGGACCGGGCGGCGGCCGTGCGTTCGGAACCCGGGGCGCGCTGCGGGCGCGCTCCGCGTTTGCACCCGCGCCCCCTCCCGCCCGCGGCGCCCCGCGCCCGGGGTCTCGCCGTCCCAGCGGGCCGCCCGCTCCGTACCCTGCGGCTTGGTGCACGCCCCGAGGAGGTTGACCACGTTGAGGTGGTTGCCGATGTGAATGAGGATCTTGAGCTCCGACATCAGCGCGCGGTGCTCGCTGGCCGTGGCGCCCTCTGGAGGGGACACGGGCCTCACACCGGCCCCGACCCTGGCAGGTCCCCGTTCCCCGCCACCCGGCGCTTTTGGGAGGGGGAGGGTTACTAAGGGCCCCCAGGACATCCTGCCGGCCCCACTGAGGCAGAGGGGGTTCGGGTGGTCCCTCGGCTCTGAAGCCCGCAGCCTCCCTGTAGAATCTCGGATGAGACTGGCTTCCAGCCTCAGTCTCCCTTCCCGAGTTGCCGTCCCACCGGCCCACCCCGAGCTGCTGCTCCTCACCAGCTAGGCTGCCCCTTCCGCCCGCTGACCCCACACCTTTCAGCATTTTCACGGCCACGGTGTCACAGCTGCTGCCCTTGTGGATGCCGAAAGCGGAGGCTTCCACCACCTTCCCGAAGGTGCCGTAGCCGAGCACTCTCCCTGTCGGGGCAGGGGGCCAGTTGCAGGTGAGCTGTACGGGGTGAGCGTGGAGACAGGTGGGCGGCGGGGGAGCCCCGTGCAGAGGTCCAGGAGGACAGGCCTGGCAGCAGGAGGAGCGTGGGGAGCCACAGCGGGAAGACAAGGAGAGGTGGACAGGAGGCCGCGCATCCTCCCGGGTAGGTGTGACAGATACACCCTGCTCAGGGTGGCAGCAGGTGACCTCAGGGAGCCTGGGAACTGGGGACCCTGGCTGAGGTTCTAGGTACCCACGCCCACAGGGACAGGTCAGGCCAGGCGGAACTTCCTGGTGCAAGTTTTGAAAATGGAGGGATTCAGGCACTCCGGCCTGCAGCAGGTGGGTCGGGCAGGAGGTGTGGGTTGGGCAGGCTGGTGCTGGCCTCACCCAGGTGCAGCCGCTCTCGGGGGAATTCCCACTGGCTGGCATCGTAGGACAGGTATTCGCATTGCTCCTCCAGAGGCACCTCCCCGGGGTCCATGATGATGGACAGGTAGCCCGTCTTGATGTCTGCGTGGGCCGGCTGCGGGGAGGGGACAGGGAGGAGTGGGGCAGCTCACTGATTTGGCCATACCACTGTGGCTTGGGCAGAACTTTGCCCAGGACAGATGGCACTTCCTGCGGGGTTCTCAGTCAAGGAGGGGACAGAAAAAAAGACAGACAACCTCTGCGGGGTTGGAGCCCAGCGTGAAGGGCAGGGAGGCTTCCCAGGAAACAAGGCTGCCAGGTGAACTAGGGCGGGCACCTTATTCTTTATCTTAGGGGCGGCCAGGGTGGGGAAGGCCTGAGAGAGACTCCATCAGGAGCGGGGAGGGACACTCACCCTCCTCATGTTACAGAAGATGAGGAGGAGGAGGACCCAGAAGAAGACAGCGATGACGCCGGTACCGACAAGGATCACGATCTCCATGCTGCCCTTATCCTCGGAGCCTGCGTGGGCAGAAAGGGGCCGGCGTGTGTGTGTGTGTGTGTAAGAGCGTGCACCTGCAGGCAGCACCCCTTCTGGTGGCCACGACTTGCCCAAGGTGGCCACAAGAAAGCGTTAACTGGGGACGGGAAGGGAGTTGAGGGGTGCAGCCTGAGGCCAGACCTTCCACGGCCACGCTGGCGGAGGAGTTGACGCAGCCCTTGGCGTTGCACACGCTGCACAGATAGCGTCCCGCATCCTCCTCGCGCACGCGCTGGATGCTCAGCTTCTGGTTGGAGTCCGCCAAGTCGACTCCTGCAGGGGGTGGGGTGGAGGTGCGGGTCCACCTGGGTTTGGGATCGTCGGCCTCGCGGGCCTCCGGACCTGCCCTTCGCCAGGGCCACCCTCCCTACCAGACTTTTCCTCCAGCAGCCTCTCGTCTTTGTACCACACGATGCTGGGCGCGTGCGCTCCGGCCACCAAGCACTGCATCTCCAGCGAGTCGCTCACGTTCACCAGGAGGTCGGTCAAGTTCTGCGTGAGCCGAGGGGCTTCCAGGGCTGGGGGCAGGGGTCGAGAGGGAGCTAAGTGGAGCTGCACTTAGCAGGAGGACCCTCTTTGGGCTGGGAGCAGAGGTAGAAAAGGATCCCTGGAAGCTGGACTTAGGGGTTGTGCGCCGGGCAGGAGCGCGGCGCGCCTCCGCAGGGGGCGGCGGATAGTCAGGAGGGGTAGCTCCTGCAGGCCAGGGCTGTGAATAGACCTCCCAGGGGCGAGCCACGCCGGGGCAAAGGCAGAGGCAGCTACTGCTAGAAGAGAGCGCGTCCCCGCCCTCCCCGCGGCCAGCCTCACCCTGCACCGACAGGTACTTCTTGTGGCAGTGCTTGTCATGGCTGCGCCGGTCTTGCACTTCGCACACATAGTGGCCCTCGTGCTCGGGCGCGACGCGGGGGATACTCAGGCTGAGCGTGGCGTGGCGCGCCCCAGGTGCCACCTCCTCCAGGCTGGCGGCCAGAGGGGTGGCGAACAGATGCACGTTCTTGCAGTCGAGCAGAAGCGGGTTCCCGTGCGCATCGTGCAGCGTGGACAGGTTGAGGCGGTACCAGC
Task1_train_9929
A mutation in EXOC2, LOC126859547 (exocyst complex component 2| CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:563721-564920), located on Chromosome 6, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
CTTCCTGACAGCAGCCAGGCCACGAGTGACCCCGAGGCCAGCCTGAGTAGAAGGCAGTGTGAAGGGTCACAGGGAAGAAGGATGGAGGCAGCCCTGGGCACTGACTGTGTGACCACGCTGCCAGGCTGCTGTGAGAGACAGAAGTCCCCCCCTGGTGAAAGCCACTGGGATGTGTCGGCCGCTGCCTGGCCATCGTCACTGGCACAGCCACCCACAGGACCGCGAGGGGCACCCGTGAGACAAGTGTGAAAACCCGTGAAATCATGAAGATGATTTTTAAACCTAAAAGTCCCAGCTGAAAAGATGAAGATTCTAGAAACAGGTCACAGTTGGCTGCCTGGCCTGAGAATGTATCTGCAGTGGTCTGTGGTGGTTGTTTTTGTTTGTTTGGTTTGTTTTGGCTTTGGAGCCAGCAACGTCATCTCTTCTATCCTGCTTTCCGGAAAAGCTCAAGTTGCTGAGTAATTTAGAATTGAGCATACTCTGTTTTTAAAAAACTAATTCAAACAAAAATCGTAAGTTATACAGGATGAAAAAGGTCAAGTCTAAAAGAAACGCATTGTTCTCATTAATTTTTCAATATTTATGGTTCGTGTTAAGCAAAAATGTCTCTGAGAAGAAAACCTTTAAGAAGCTTCTATTTCTATTTAGAGCTGCAACACATGGAGCACATGCTCCCTATTAATATGATAAACTATTTATTTTAAATACACACTAATGACTAATAATTGAAAAGAACTTAAACTTACTAGAGAAGTCAGTCCTTCATTGTCAACAATCCAGTCTTCTTTTTCAGCTAATCTCTTTATTTCTATATGAGAAGAAGCACACAAATACTTTATTATAATTATCTCACTAAATTTTATACAGATTAAAAATGTATACAGGTTATGGTTTTTCATTGTTTTATATAGGTTTGTAAAAACTCGATGAAAGTAGGCAAAGAATATAATTTTGGTAGACTTGATGATTTAAGTACATATTGTTCACTGGATGATTCTACTAAGATATTAATGTGAATAAAAGTTTTTACTGTATAGCCCAATTTGGGGAATTCTACGTTGGATTTAATGACAACTTGAGACAATCATTTATTACTTATTCAGGATTCTTCACAACACTAGGCATGTACAAAATAAGTCATACAGTATTTTTTTTCCTAAAATTTCTGATGAGTAATTTGGCTGTTTTTTGAATCCTACAGATTCCTGACAAGGGCAATATGATTCTCAGTTGGCTAAGGGAATGCCACCTGCTCAAACCTTCGGCCTTGGGGCAGGCTCAGGTTCCTAGGTGAGGAGGAGGTAATCAACTAAGAGGGGAATATCCAACTTCTCACCTGGGTTCCATTCCCTTCCCATTTACACAGTATCGCCCACCAATTTTGCAGAGATGTAAGCTTCCTACCTAAAAAGCCAAGCCTGGTAGTAGATAGTAAAGGCCTGTGCCATTTTAGCAATGTTCTTATTTTTGAAAATATTTAATAACTAAAAGGCTGCTTTGTAAAGAAAACCTTTATGGTTTTTTTATGATTTTATGTAGAAAAGCCTGAAAAATTTAAAAAGTATAAAGAAAACAAGAATCATCTATAATTTCTGGAATCCAGAGAACCAACACTAACAGAGTTTCCTTTGATTGGACATTGATTTCTGTAAATTAAAATTTAAAAATATACATCCATATATTTTCAAAAGTGAGATCAGACTTTATGTACATTTTATACCCTATGTTTTCTACTTAACATTTATCATAACAATATTCTTATATCTTTAAACATTTTCAAGTGTATCCATCTTAGTTTCTGCATGGTCTTAATTCTCAACAATACATCACAAAAAGAAAAAACACTTATTGAGCAGCTAGAAATAAGATGAACTAATATATTCCAATTTCCAGAAGAGTAATTTTCCCTTGTTTTCAAGGATTTGGACACTGAAAGGAGGTGGCACATTCAGATAATCATTGCACAGTGAACGTCACCGATTTATCAAAACACACCTTCCGCCGTGTGCTGCAACGTGGCCATTACGCAACGTACTCGGAGATCCAAGATGAGATCCTGGATAGTCTGTAACAGGTCATTAGGAATTTCAAGGGCAGTCAACGATTCATGAGTAAGTCTGCGAACAAACACATCCAAACAGAAGTGAGCAGAGTGGGATCGCAAAGCAATCCCTAGCATCTCTTTCACTGTATAATCATTCCTCACGGAGCTTACGAGCTACAGCATTAGGCTGAAAACAGAAACAGACCACAACTGGGACTGTACTGTCAGAGTAATACTGAGTGAAACAACGGAGAAGATGCGTAAACTCAAGAACATTCTAGTCCAACACAAAAACCAGGAACAGTGAGGAGCTTAGCTGTCAGATGATGAACAGGAAACAGTGGAGGCAAAAGGACAAAAAGAAGAAAAAGAAGAATTTCTTCTTCACTGAATGTATTAATTCTTTCCAAAAAGTTAAAAAAAACAGAAGTACGCCTTTCTCTGAGAATGTGTCCATACTCACCTTACAGTCTGGATGGCGTGAGCGAGCCACTGTCCGGAGAGCTCGCACTTCACCTCCCAGCCTCCGTACTGCTTGGCTTCCCCATCCCGGATGCTGAGGGGAAGCAGGGCTCCGCGGGTAAGCTTCACCAGGGAGTGCATTACTTCCTGAATCATTTTCTAGAAAACCAGGAACAAGCATAACCGTGTTCAAATGTGATTAATCGGGTTACATTAACTAAAAGATGCTGCCTGGGCAGTAATGGATGTCTTGAATACAAAGTGAGAAAGGAAAAACCCTACCCTGTGAAAAGGTCTACATACTTATCACCCTTACTCACCTTAAAATCATTTTGTCTTTGCCTTACATTCTTTGATCTTTCAATCTGGCCTGACTTCTCAGCAGTCTTAAAAATTAAAAAAACAAAATAAAACATATTAGAAATAATTTAAAAATAAGAAATGCTTTAGCACTTGTACATCAAGAGAACATTAAATATGGTTATAACTTGATTAAAAGAAATGCTTAAGACATAATCTATGTTTCTGATTAAAGAATGATTCATTAGAAAACCTTTCTTATCCCAATGAGAAGTTATTTATCTTTCTAAAACCTTTACGTACAATTCCCATGAATGAATCCAAGAATTAAGTTGAAACTACCGATTTTACAGGTGAATTTCATCTACCATTTTCACCAACGATGTCGTATGGTTAAACCATCAGGTATCATACCCACGACAACACTGTCAACATCATTTCTCATTAGCTAGTAAAGAAACCAAAGGAAGCCTAAACTCTGAAATCTGTCATTTTAGTTTTAAATACTATAAACTATGGCTCTTCCTTCAGAGATTTCAGTGTAATTTAGGATAAAATACATTCTATCATTCTAGAATTAATTTTTGTTTGTTTACTGATATAACTCATGTTTTTTTCCATTGTCTCTTTCCCCTTAATGTATGGAAAACTACTTTATATTGACTAAAAGAGAAGCCTGTTCAGTTGGATTTCAGAGAACTGTTTATTAACAAATTTTCTAACTAAATATTTTTATATAAAATAACCTAGAAGGACAAGCCCAGGAAGCTTTCTAAATAAAGAAGCATTAACAAAATTATACAATGTAAAATAAAATTCTGACACTTCATTGACATAATGCAAAAGTTAACCTTTAAGGTGAAAATGCTCATGCCTTATCGGTTAACGCATGACAAGTCAAGAGACCTTTCAAGTTAAGAACAGTTGCATTATAAATTATCATGATATTGACTTTAAGTCAGTTTTAAAATACAAGCAATGTTATGCACGTTGTATATATATTTATTTCTGTATAAGCTATAAAAACTGCGTGTAGGGTTAGTTTATATAATGAACATATCAATGTAAGTAAAATATGGGTTAGGATTGTTGGGTGTTTTCAACAGAACTATCAGACAAACCTGACAAAAAAACGGGCAGCACATACACAGACCAACATCCTTCAAACTGTAGTTTCCATTCATTTTTAAATTTTATATTAAACTACGCAGCTTTTATCATTTTTTTCTTTGTAGAAATATGTTTTTGTCTTGAAAGAATTAAAGGTATGTATAAAAACTAAACCTG
CTTCCTGACAGCAGCCAGGCCACGAGTGACCCCGAGGCCAGCCTGAGTAGAAGGCAGTGTGAAGGGTCACAGGGAAGAAGGATGGAGGCAGCCCTGGGCACTGACTGTGTGACCACGCTGCCAGGCTGCTGTGAGAGACAGAAGTCCCCCCCTGGTGAAAGCCACTGGGATGTGTCGGCCGCTGCCTGGCCATCGTCACTGGCACAGCCACCCACAGGACCGCGAGGGGCACCCGTGAGACAAGTGTGAAAACCCGTGAAATCATGAAGATGATTTTTAAACCTAAAAGTCCCAGCTGAAAAGATGAAGATTCTAGAAACAGGTCACAGTTGGCTGCCTGGCCTGAGAATGTATCTGCAGTGGTCTGTGGTGGTTGTTTTTGTTTGTTTGGTTTGTTTTGGCTTTGGAGCCAGCAACGTCATCTCTTCTATCCTGCTTTCCGGAAAAGCTCAAGTTGCTGAGTAATTTAGAATTGAGCATACTCTGTTTTTAAAAAACTAATTCAAACAAAAATCGTAAGTTATACAGGATGAAAAAGGTCAAGTCTAAAAGAAACGCATTGTTCTCATTAATTTTTCAATATTTATGGTTCGTGTTAAGCAAAAATGTCTCTGAGAAGAAAACCTTTAAGAAGCTTCTATTTCTATTTAGAGCTGCAACACATGGAGCACATGCTCCCTATTAATATGATAAACTATTTATTTTAAATACACACTAATGACTAATAATTGAAAAGAACTTAAACTTACTAGAGAAGTCAGTCCTTCATTGTCAACAATCCAGTCTTCTTTTTCAGCTAATCTCTTTATTTCTATATGAGAAGAAGCACACAAATACTTTATTATAATTATCTCACTAAATTTTATACAGATTAAAAATGTATACAGGTTATGGTTTTTCATTGTTTTATATAGGTTTGTAAAAACTCGATGAAAGTAGGCAAAGAATATAATTTTGGTAGACTTGATGATTTAAGTACATATTGTTCACTGGATGATTCTACTAAGATATTAATGTGAATAAAAGTTTTTACTGTATAGCCCAATTTGGGGAATTCTACGTTGGATTTAATGACAACTTGAGACAATCATTTATTACTTATTCAGGATTCTTCACAACACTAGGCATGTACAAAATAAGTCATACAGTATTTTTTTTCCTAAAATTTCTGATGAGTAATTTGGCTGTTTTTTGAATCCTACAGATTCCTGACAAGGGCAATATGATTCTCAGTTGGCTAAGGGAATGCCACCTGCTCAAACCTTCGGCCTTGGGGCAGGCTCAGGTTCCTAGGTGAGGAGGAGGTAATCAACTAAGAGGGGAATATCCAACTTCTCACCTGGGTTCCATTCCCTTCCCATTTACACAGTATCGCCCACCAATTTTGCAGAGATGTAAGCTTCCTACCTAAAAAGCCAAGCCTGGTAGTAGATAGTAAAGGCCTGTGCCATTTTAGCAATGTTCTTATTTTTGAAAATATTTAATAACTAAAAGGCTGCTTTGTAAAGAAAACCTTTATGGTTTTTTTATGATTTTATGTAGAAAAGCCTGAAAAATTTAAAAAGTATAAAGAAAACAAGAATCATCTATAATTTCTGGAATCCAGAGAACCAACACTAACAGAGTTTCCTTTGATTGGACATTGATTTCTGTAAATTAAAATTTAAAAATATACATCCATATATTTTCAAAAGTGAGATCAGACTTTATGTACATTTTATACCCTATGTTTTCTACTTAACATTTATCATAACAATATTCTTATATCTTTAAACATTTTCAAGTGTATCCATCTTAGTTTCTGCATGGTCTTAATTCTCAACAATACATCACAAAAAGAAAAAACACTTATTGAGCAGCTAGAAATAAGATGAACTAATATATTCCAATTTCCAGAAGAGTAATTTTCCCTTGTTTTCAAGGATTTGGACACTGAAAGGAGGTGGCACATTCAGATAATCATTGCACAGTGAACGTCACCGATTTATCAAAACACACCTTCCGCCGTGTGCTGCAACGTGGCCATTACGCAACGTACTCGGAGATCCGAGATGAGATCCTGGATAGTCTGTAACAGGTCATTAGGAATTTCAAGGGCAGTCAACGATTCATGAGTAAGTCTGCGAACAAACACATCCAAACAGAAGTGAGCAGAGTGGGATCGCAAAGCAATCCCTAGCATCTCTTTCACTGTATAATCATTCCTCACGGAGCTTACGAGCTACAGCATTAGGCTGAAAACAGAAACAGACCACAACTGGGACTGTACTGTCAGAGTAATACTGAGTGAAACAACGGAGAAGATGCGTAAACTCAAGAACATTCTAGTCCAACACAAAAACCAGGAACAGTGAGGAGCTTAGCTGTCAGATGATGAACAGGAAACAGTGGAGGCAAAAGGACAAAAAGAAGAAAAAGAAGAATTTCTTCTTCACTGAATGTATTAATTCTTTCCAAAAAGTTAAAAAAAACAGAAGTACGCCTTTCTCTGAGAATGTGTCCATACTCACCTTACAGTCTGGATGGCGTGAGCGAGCCACTGTCCGGAGAGCTCGCACTTCACCTCCCAGCCTCCGTACTGCTTGGCTTCCCCATCCCGGATGCTGAGGGGAAGCAGGGCTCCGCGGGTAAGCTTCACCAGGGAGTGCATTACTTCCTGAATCATTTTCTAGAAAACCAGGAACAAGCATAACCGTGTTCAAATGTGATTAATCGGGTTACATTAACTAAAAGATGCTGCCTGGGCAGTAATGGATGTCTTGAATACAAAGTGAGAAAGGAAAAACCCTACCCTGTGAAAAGGTCTACATACTTATCACCCTTACTCACCTTAAAATCATTTTGTCTTTGCCTTACATTCTTTGATCTTTCAATCTGGCCTGACTTCTCAGCAGTCTTAAAAATTAAAAAAACAAAATAAAACATATTAGAAATAATTTAAAAATAAGAAATGCTTTAGCACTTGTACATCAAGAGAACATTAAATATGGTTATAACTTGATTAAAAGAAATGCTTAAGACATAATCTATGTTTCTGATTAAAGAATGATTCATTAGAAAACCTTTCTTATCCCAATGAGAAGTTATTTATCTTTCTAAAACCTTTACGTACAATTCCCATGAATGAATCCAAGAATTAAGTTGAAACTACCGATTTTACAGGTGAATTTCATCTACCATTTTCACCAACGATGTCGTATGGTTAAACCATCAGGTATCATACCCACGACAACACTGTCAACATCATTTCTCATTAGCTAGTAAAGAAACCAAAGGAAGCCTAAACTCTGAAATCTGTCATTTTAGTTTTAAATACTATAAACTATGGCTCTTCCTTCAGAGATTTCAGTGTAATTTAGGATAAAATACATTCTATCATTCTAGAATTAATTTTTGTTTGTTTACTGATATAACTCATGTTTTTTTCCATTGTCTCTTTCCCCTTAATGTATGGAAAACTACTTTATATTGACTAAAAGAGAAGCCTGTTCAGTTGGATTTCAGAGAACTGTTTATTAACAAATTTTCTAACTAAATATTTTTATATAAAATAACCTAGAAGGACAAGCCCAGGAAGCTTTCTAAATAAAGAAGCATTAACAAAATTATACAATGTAAAATAAAATTCTGACACTTCATTGACATAATGCAAAAGTTAACCTTTAAGGTGAAAATGCTCATGCCTTATCGGTTAACGCATGACAAGTCAAGAGACCTTTCAAGTTAAGAACAGTTGCATTATAAATTATCATGATATTGACTTTAAGTCAGTTTTAAAATACAAGCAATGTTATGCACGTTGTATATATATTTATTTCTGTATAAGCTATAAAAACTGCGTGTAGGGTTAGTTTATATAATGAACATATCAATGTAAGTAAAATATGGGTTAGGATTGTTGGGTGTTTTCAACAGAACTATCAGACAAACCTGACAAAAAAACGGGCAGCACATACACAGACCAACATCCTTCAAACTGTAGTTTCCATTCATTTTTAAATTTTATATTAAACTACGCAGCTTTTATCATTTTTTTCTTTGTAGAAATATGTTTTTGTCTTGAAAGAATTAAAGGTATGTATAAAAACTAAACCTG
Task1_train_9930
A mutation found in EXOC2 (exocyst complex component 2) on Chromosome 6 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
TTTTACTTTATCCCATGGCTGAGCAAATATTTCTGAAACTTAAGTAACAATCTGTACAGTAACATCAAAATCTGTTAATTTTATTCCCACTGAAGTACTTATTGGATAAATGTACATAATGTTATTTTAAAATTTTAAAACACTTTAGTACCCTGGAATCTTAAGTCATTAAACAAAAACTTTTCCTATGTGGCAGAACAATGAATAGTATATATCCAAGAAGAGCAAAGAATCCTGTAAGGATGAACACTTGTGAGGCACTTGCTATGCTCCAAGTTGTTTACCTCCTCACTTCCTGATTCCTCGCATCGACCCTAAGGAACAGGTACTGCATTGTACACCTGAGGAAACTGAGGCAAAAGGAATCTAAGTAACTTACTCAATGTCATATTGCTAGTAAGTGGCACAGCCCAAGTTCAAATTGAGAGAGTTTTGCCCCACACAAAATCAAACTACCTCTCAGAGAAGAAAAGAACATTTTAAGAAAGCTAAGTACTTTCAGTGCCATTATTCTTCACTGCCATTACCAATCTCATCAAATAATTAACCTGACACTTATTAGGAACACTGCTGTTAGACGCAGTTCAGGCCAAACCACACTGTGGGCAGCAGCAACAGGAATAATAAAGAGATTCAAAGGCTGAGAAGGTGTGGGGAGGTAGAGAGAACAGGGGTGGGGGTAAACACCAAAACAGAAGTTGAAGAAATCACGTTTATGATAGTAAACGTCTGAATGAACCCTAACTGATAATTTTGTCCAAGTCTCATACTAAATATATTTTGTATATCTCCATATTCCTTTTGCCCATGTATAAAACTGGCTCTTGGTTATGAAGAGCAGCTCAGAGGGCCTCCTGCTCCACACTTCTCAGGCAGGTTGGAAAGAGACTGGCTTTCCAGAGCCTTGAAGCACCCATAAGGGGCTTACTATCAACTGCAAGTCTATTCATGCTTAAAACTGTGCTCAAATAAATACCCAACTGTTACCATTATTTTCTAAACCTTCTCAATCTTTGAACTCTTAATTTTGGAGGCACTGGAATCCTTAAACGGCTCTAGAATGACCCATACTGCAAAAATGTTTCAAAGATGTTACCTAGAACAGTCAAAGCTCACGTGAAGCTGCTAAGCCCCAGACTTTTTCAACACGTGCTACTTTCCCAAGACAAACATGCTACTTCCCCTCAGCCAGGGGCAAACCCCAGCAGGTGAAAATGAAACTAATGATCTTCAAGAGTAGGCTTGAAGATTATATATAGAGAGATTATTGGAGAATTTTCCCCATTCCTAGAAAACCCTAAACTAAAACCATGGTTAAAGTATTAACAGTGCTAATTTGTCACTTTTGGTAAGAGTTTACAGAGCAATACTCAGTATACAATTCCATAAGCAGAAGCACTAAGGCCAGAAGATAAATTAGCTGCGATTAACACATTAGGTGAATTGTTTAAGTAGAAAGGCACTAATTATAAAAGTTACTAAAACACTGTACTAGGAATTCAGAAAAAAACTCTAGATTCAGTTATAAGGCATCTTGAAAGATATCATTTACCTGGCAGAATTCTGATGATTAAAGTTAAATAAGTCTGGATTAAGCAAGAATGAGTAGACATTATAGACAAAATTAAAGACCAGATTAGACCTGGCTATTCTAAAATACTTCTAGAAAAATCAAAAAAACAGATTATGTATGCTATTTTGACTTCAGGTGCCATCTACCTATTTAAACTTAACCATCTCTAGACAACATACTAAAGACTTTTCTTTTTCACAAAATGCAAAATCAAAAAACTGAAGAGGTAAAAGTAGTTTTAGCCACAAGTTTTAACTAACTGCAAAGTTTACTTGCAGCATAGCTAACAAGGCTTCATAAATAACACCCATCTCCAAACAACTGAGGTGTCTTCAACTGTGTTTCCTGGGATGTTTCTGGAGTTTGAGTCCCTTTCCTGTAAGTATATAAAACTTTTCAGGAACTGAAAAATAAAGAAGACTGAAAGCAAGATGGTACTCACTTTTCAATCTCAATGCCAAGCGGGTTAGCAGGACGTAAGGACAAGGGCGGAATTCCTTTGTTCCTGTCAGTGCGCATATCATAATAATTCATTTCATCAACCCACACAGCAGACTGATCCAAAATGCCTACAGAAATGAGGAGCATATGCTTAATAAGATGAAGCCTACCCCAGGCACCTTCTACGTCTGGCCTATTGTCTGACTTCTTAAAGACCTAATACAAAATGCCTGTTGGATAATCTTTAAGAGATTTGAGGACATAACAGCTAAATTTTTAAAAAATGACTAGTAGTTTAATTATAAGCACTAAAAAAATTTATAAAAAGGCAAAAATTACACCTCTCAGCTTATGGTTTCATTGTACATTACTCAACAGAGAAGACAAATTAAGCTGCTTAGACAAAGTTTTGCAATAACAAACATATTTTACAAATAATAAACACTACAATTAAACATTGTTAAATGTAGCTGATTAAATCTGCACAAAAAATTCAGAAAGTCAGTAAGATGAAATAATATGACCTATAATATCTGTTTATTCAAGAGAATATTCTGAAATCATGTAAACTCTTGGAAAATGTCTGGGAAATATCCAAGCACAAAACATTCGAGTAAAATGTTAGCTCAGTGGAAAGCTTCTGGTTTATGATAAATGCCGAAAAACCATTATGCATATATGATTTTATATTTAATACTGTGAGTTTCTGCTTCTGGGTTCCATAAGCTACCTAAGGACATTTCACTACAAATGAAAACCAAATGTTTTTTAAATGGTTCTTGAAAGCTCTCAAGAAATATCTTTTATTTTCTTTTCCTCTACAAACTCTGGCATGTTTTCATGAATAGTTATGCAAAAATAATATGCTACTTGCTATTTCTCATTCTTTTTGCTGTTATCAGTGCTGGAAATGTCCTAGATGGTAGAAACAGCAGGGATTTTTTTCCGTATTAGGCTGAAATCAATTTGGTAAATTCAATAAAATATCTAACGATTAAATCAAACACCTTTCAAGGAACGCATGGCTTGTATAATGGAAATAACCAGGTTATTCAGGGAAAACTGACTGGGTGTGGACCCTGTGAACAAGACAACATAAGCTCTAAAAACAGCATCTTCCTTTATGGGACTGAACTCCGTTATCATTCAACCTAGCACAGGGCTTACCAGCTAGGCCTCCAAGGCCCTGGGCTGCAACAGAAAAAGAGCCAAGTGCCAGGGAGCACAGACAAAGCGTGCCTGCCTCCCCAGGCGAGGATCAGAAGGCTTCATGGGAGAAGGCTGTCTGAATACCAGGCAACCTGTAGCTGCAAGGCCCTCTATGAACCCACTCATTCTCTCAGCACTCGTGGTTCTGCCAGCATGCAACAGGGGCTTCTGCTCAAGTCCAGGCACTCTTGAGTTCAGTTCAAGAAAGCTTTACTGGCCGGGTGCAGTAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGAATCACAAGGTCCGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGCACCTGTAATCCCGGCTACTGCAGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCCAAGATTGAGATCGCGCCATTGCACTCCAGCATGGGCGACAGAGCAAGACTCTGTCTCAAAACAAAAAGAAAAAAAAAAAGAAACCTTTACTAAGCCTACTATGTGCTAGGTCCTGGAATGAGTATTCCAGAATAATAAAATTACCACTTTTGCCTAAGTTTTCTTTATCTGCTATATAAATAGATCATAAGATATTAGATTTTTATCAAAATGTTTAAGTCCCTCTAGAAAACTGTACAACAAGTTCCTGCTTTAGTTTCAGTTTAGTTTTTGAAGACACTAAATAAAAAGAGTAAACAAAAATAGAAATGTTATATATGTATATATGTACACATGCACGTACATGTACATATATAAAGTCCACTCTGAATTTTCCCTGAAATTCCTTGAATTTTTATTTATAAAAATAATCTAGGAATTTGTGGAGAA
TTTTACTTTATCCCATGGCTGAGCAAATATTTCTGAAACTTAAGTAACAATCTGTACAGTAACATCAAAATCTGTTAATTTTATTCCCACTGAAGTACTTATTGGATAAATGTACATAATGTTATTTTAAAATTTTAAAACACTTTAGTACCCTGGAATCTTAAGTCATTAAACAAAAACTTTTCCTATGTGGCAGAACAATGAATAGTATATATCCAAGAAGAGCAAAGAATCCTGTAAGGATGAACACTTGTGAGGCACTTGCTATGCTCCAAGTTGTTTACCTCCTCACTTCCTGATTCCTCGCATCGACCCTAAGGAACAGGTACTGCATTGTACACCTGAGGAAACTGAGGCAAAAGGAATCTAAGTAACTTACTCAATGTCATATTGCTAGTAAGTGGCACAGCCCAAGTTCAAATTGAGAGAGTTTTGCCCCACACAAAATCAAACTACCTCTCAGAGAAGAAAAGAACATTTTAAGAAAGCTAAGTACTTTCAGTGCCATTATTCTTCACTGCCATTACCAATCTCATCAAATAATTAACCTGACACTTATTAGGAACACTGCTGTTAGACGCAGTTCAGGCCAAACCACACTGTGGGCAGCAGCAACAGGAATAATAAAGAGATTCAAAGGCTGAGAAGGTGTGGGGAGGTAGAGAGAACAGGGGTGGGGGTAAACACCAAAACAGAAGTTGAAGAAATCACGTTTATGATAGTAAACGTCTGAATGAACCCTAACTGATAATTTTGTCCAAGTCTCATACTAAATATATTTTGTATATCTCCATATTCCTTTTGCCCATGTATAAAACTGGCTCTTGGTTATGAAGAGCAGCTCAGAGGGCCTCCTGCTCCACACTTCTCAGGCAGGTTGGAAAGAGACTGGCTTTCCAGAGCCTTGAAGCACCCATAAGGGGCTTACTATCAACTGCAAGTCTATTCATGCTTAAAACTGTGCTCAAATAAATACCCAACTGTTACCATTATTTTCTAAACCTTCTCAATCTTTGAACTCTTAATTTTGGAGGCACTGGAATCCTTAAACGGCTCTAGAATGACCCATACTGCAAAAATGTTTCAAAGATGTTACCTAGAACAGTCAAAGCTCACGTGAAGCTGCTAAGCCCCAGACTTTTTCAACACGTGCTACTTTCCCAAGACAAACATGCTACTTCCCCTCAGCCAGGGGCAAACCCCAGCAGGTGAAAATGAAACTAATGATCTTCAAGAGTAGGCTTGAAGATTATATATAGAGAGATTATTGGAGAATTTTCCCCATTCCTAGAAAACCCTAAACTAAAACCATGGTTAAAGTATTAACAGTGCTAATTTGTCACTTTTGGTAAGAGTTTACAGAGCAATACTCAGTATACAATTCCATAAGCAGAAGCACTAAGGCCAGAAGATAAATTAGCTGCGATTAACACATTAGGTGAATTGTTTAAGTAGAAAGGCACTAATTATAAAAGTTACTAAAACACTGTACTAGGAATTCAGAAAAAAACTCTAGATTCAGTTATAAGGCATCTTGAAAGATATCATTTACCTGGCAGAATTCTGATGATTAAAGTTAAATAAGTCTGGATTAAGCAAGAATGAGTAGACATTATAGACAAAATTAAAGACCAGATTAGACCTGGCTATTCTAAAATACTTCTAGAAAAATCAAAAAAACAGATTATGTATGCTATTTTGACTTCAGGTGCCATCTACCTATTTAAACTTAACCATCTCTAGACAACATACTAAAGACTTTTCTTTTTCACAAAATGCAAAATCAAAAAACTGAAGAGGTAAAAGTAGTTTTAGCCACAAGTTTTAACTAACTGCAAAGTTTACTTGCAGCATAGCTAACAAGGCTTCATAAATAACACCCATCTCCAAACAACTGAGGTGTCTTCAACTGTGTTTCCTGGGATGTTTCTGGAGTTTGAGTCCCTTTCCTGTAAGTATATAAAACTTTTCAGGAACTGAAAAATAAAGAAGACTGAAAGCAAGATGGTACTCACTTTTCAATCTCAATGCCAAGCGGGTTAGCAGGATGTAAGGACAAGGGCGGAATTCCTTTGTTCCTGTCAGTGCGCATATCATAATAATTCATTTCATCAACCCACACAGCAGACTGATCCAAAATGCCTACAGAAATGAGGAGCATATGCTTAATAAGATGAAGCCTACCCCAGGCACCTTCTACGTCTGGCCTATTGTCTGACTTCTTAAAGACCTAATACAAAATGCCTGTTGGATAATCTTTAAGAGATTTGAGGACATAACAGCTAAATTTTTAAAAAATGACTAGTAGTTTAATTATAAGCACTAAAAAAATTTATAAAAAGGCAAAAATTACACCTCTCAGCTTATGGTTTCATTGTACATTACTCAACAGAGAAGACAAATTAAGCTGCTTAGACAAAGTTTTGCAATAACAAACATATTTTACAAATAATAAACACTACAATTAAACATTGTTAAATGTAGCTGATTAAATCTGCACAAAAAATTCAGAAAGTCAGTAAGATGAAATAATATGACCTATAATATCTGTTTATTCAAGAGAATATTCTGAAATCATGTAAACTCTTGGAAAATGTCTGGGAAATATCCAAGCACAAAACATTCGAGTAAAATGTTAGCTCAGTGGAAAGCTTCTGGTTTATGATAAATGCCGAAAAACCATTATGCATATATGATTTTATATTTAATACTGTGAGTTTCTGCTTCTGGGTTCCATAAGCTACCTAAGGACATTTCACTACAAATGAAAACCAAATGTTTTTTAAATGGTTCTTGAAAGCTCTCAAGAAATATCTTTTATTTTCTTTTCCTCTACAAACTCTGGCATGTTTTCATGAATAGTTATGCAAAAATAATATGCTACTTGCTATTTCTCATTCTTTTTGCTGTTATCAGTGCTGGAAATGTCCTAGATGGTAGAAACAGCAGGGATTTTTTTCCGTATTAGGCTGAAATCAATTTGGTAAATTCAATAAAATATCTAACGATTAAATCAAACACCTTTCAAGGAACGCATGGCTTGTATAATGGAAATAACCAGGTTATTCAGGGAAAACTGACTGGGTGTGGACCCTGTGAACAAGACAACATAAGCTCTAAAAACAGCATCTTCCTTTATGGGACTGAACTCCGTTATCATTCAACCTAGCACAGGGCTTACCAGCTAGGCCTCCAAGGCCCTGGGCTGCAACAGAAAAAGAGCCAAGTGCCAGGGAGCACAGACAAAGCGTGCCTGCCTCCCCAGGCGAGGATCAGAAGGCTTCATGGGAGAAGGCTGTCTGAATACCAGGCAACCTGTAGCTGCAAGGCCCTCTATGAACCCACTCATTCTCTCAGCACTCGTGGTTCTGCCAGCATGCAACAGGGGCTTCTGCTCAAGTCCAGGCACTCTTGAGTTCAGTTCAAGAAAGCTTTACTGGCCGGGTGCAGTAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGAATCACAAGGTCCGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGCACCTGTAATCCCGGCTACTGCAGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCCAAGATTGAGATCGCGCCATTGCACTCCAGCATGGGCGACAGAGCAAGACTCTGTCTCAAAACAAAAAGAAAAAAAAAAAGAAACCTTTACTAAGCCTACTATGTGCTAGGTCCTGGAATGAGTATTCCAGAATAATAAAATTACCACTTTTGCCTAAGTTTTCTTTATCTGCTATATAAATAGATCATAAGATATTAGATTTTTATCAAAATGTTTAAGTCCCTCTAGAAAACTGTACAACAAGTTCCTGCTTTAGTTTCAGTTTAGTTTTTGAAGACACTAAATAAAAAGAGTAAACAAAAATAGAAATGTTATATATGTATATATGTACACATGCACGTACATGTACATATATAAAGTCCACTCTGAATTTTCCCTGAAATTCCTTGAATTTTTATTTATAAAAATAATCTAGGAATTTGTGGAGAA
Task1_train_9931
Given this variant in gene FOXC1, LOC129995601 (forkhead box C1| ATAC-STARR-seq lymphoblastoid active region 23864) on Chromosome 6, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; not provided
CTCTTTCCCGCTCCTTCGTTTCTTTCCCTCATTTCTCTTCTTCCTGTCCCATTCCAACCACCCAGCGACGGCGAATCTCAGGCGTGTGCACAACGAGCGGGGGCCCTTCCGTGCGTGTCCCCCCAGAATCCTTGAACCGCCCTCTAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCCCCCCGGGGAGGGGGGCGAGAAGCAGGGCGGCCCGCAGCGGGGCGGGCTCATCCTTCGCGGGTGAACGGCCGTCGGAAACTCCCAGCAGGGCCCCGCACCCCTTGCCTTCATTTCGGCTGGGGAGGGGTCATGGAGGGGGGCCAGATGGGCGACGAACCTTCTTCCCCACCGCGAGCAGGGCCTGGCTGTGACCGAGCCCTCAAAATCATGTCCTTTGTAGCCGAGTTCAGGACAGGAGAACCTCCAAGTGGAGAAAAGCCGGAGACGTCAGTGACCCGAGTGAGACTGGCGTTGGAGAAGGGAGGGAAGGGGCTGCGGGAGGGGAGAGGCGGCGGGGAGGAGAGGCTGGGGCAACCCCAGCGCTGGCGTCGGCGGGGCTGGCGAAGGAATGAGAGCGAGCCAGCACGAGGCGGGGCGGAGACGCCAGGGCCACTCGGGAGCCGTGGGCGAAGGAAGGGTCTGCACGGGGTCCCGGGAGGACCCAGGAAGTCTGCGCGAACGGCGGGCGTGGGTCCGGAGGGCCCGGGGTGGGAGGTCTGCCGGGCGCCGGCGGCAGGCAGGTGGACTGCGGGGGGCGAACCGACGGCGGGCCGGGCGCCGGCGCGGGCGCAGGGCCGGGGCCCGGGCCAGGGCGGCCGGCGCGCGTGTGGTCAGCCCCGCGGTCCTCCGGCCTCCGGGAGCGGGCCGGCAGGGCTCGGCCTCCGGCTCATTCGGAGGCGGTTCTCACCTCCCATTGGCTGCCGCCGCTGGCGGGGCGGGGCTCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCGCCGGCAGCTCAGGGCAGAGTCTCCTGGAAGGCGCAGGCAGTGTGGCGAGAAGGGCGCCTGCTTGTTCTTTCTTTTTGTCTGCTTTCCCCCGTTTGCGCCTGGAAGCTGCGCCGCGAGTTCCTGCAAGGCGGTCTGCCGCGGCCGGGCCCGGCCTTCTCCCCTCGCAGCGACCCCGCCTCGCGGCCGCGCGGGCCCCGAGGTAGCCCGAGGCGCCGGAGGAGCCAGCCCCAGCGAGCGCCGGGAGAGGCGGCAGCGCAGCCGGACGCACAGCGCAGCGGGCCGGCACCAGCTCGGCCGGGCCCGGACTCGGACTCGGCGGCCGGCGCGGCGCGGCCCGGCCCGAGCGAGGGTGGGGGGCGGCGGGCGGCGCGGGGCGGCGGCGAGCGGGGGCCATGCAGGCGCGCTACTCCGTGTCCAGCCCCAACTCCCTGGGAGTGGTGCCCTACCTCGGCGGCGAGCAGAGCTACTACCGCGCGGCGGCCGCGGCGGCCGGGGGCGGCTACACCGCCATGCCGGCCCCCATGAGCGTGTACTCGCACCCTGCGCACGCCGAGCAGTACCCGGGCGGCATGGCCCGCGCCTACGGGCCCTACACGCCGCAGCCGCAGCCCAAGGACATGGTGAAGCCGCCCTATAGCTACATCGCGCTCATCACCATGGCCATCCAGAACGCCCCGGACAAGAAGATCACCCTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGACAACAAGCAGGGCTGGCAGAACAGCATCCGCCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCGCGCGACGACAAGAAGCCGGGCAAGGGCAGCTACTGGACGCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGGCGGCGGCGCTTCAAGAAGAAGGACGCGGTGAAGGACAAGGAGGAGAAGGACAGGCTGCACCTCAAGGAGCCGCCCCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACGCGCCCGGTCCGCAGCCGCCGCCCGTGCGCATCCAGGACATCAAGACCGAGAACGGTACGTGCCCCTCGCCGCCCCAGCCCCTGTCCCCGGCCGCCGCCCTGGGCAGCGGCAGCGCCGCCGCGGTGCCCAAGATCGAGAGCCCCGACAGCAGCAGCAGCAGCCTGTCCAGCGGGAGCAGCCCCCCGGGCAGCCTGCCGTCGGCGCGGCCGCTCAGCCTGGACGGTGCGGATTCCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCGCCGCCGCACCATAGCCAGGGCTTCAGCGTGGACAACATCATGACGTCGCTGCGGGGGTCGCCGCAGAGCGCGGCCGCGGAGCTCAGCTCCGGCCTTCTGGCCTCGGCGGCCGCGTCCTCGCGCGCGGGGATCGCACCCCCGCTGGCGCTCGGCGCCTACTCGCCCGGCCAGAGCTCCCTCTACAGCTCCCCCTGCAGCCAGACCTCCAGCGCGGGCAGCTCGGGCGGCGGCGGCGGCGGCGCGGGGGCCGCGGGGGGCGCGGGCGGCGCCGGGACCTACCACTGCAACCTGCAAGCCATGAGCCTGTACGCGGCCGGCGAGCGCGGGGGCCACTTGCAGGGCGCGCCCGGGGGCGCGGGCGGCTCGGCCGTGGACGACCCCCTGCCCGACTACTCTCTGCCTCCGGTCACCAGCAGCAGCTCGTCGTCCCTGAGTCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCCAGGAGGCCGGCCACCACCCTGCGGCCCACCAAGGCCGCCTCACCTCGTGGTACCTGAACCAGGCGGGCGGAGACCTGGGCCACTTGGCGAGCGCGGCGGCGGCGGCGGCGGCCGCAGGCTACCCGGGCCAGCAGCAGAACTTCCACTCGGTGCGGGAGATGTTCGAGTCACAGAGGATCGGCTTGAACAACTCTCCAGTGAACGGGAATAGTAGCTGTCAAATGGCCTTCCCTTCCAGCCAGTCTCTGTACCGCACGTCCGGAGCTTTCGTCTACGACTGTAGCAAGTTTTGACACACCCTCAAAGCCGAACTAAATCGAACCCCAAAGCAGGAAAAGCTAAAGGAACCCATCAAGGCAAAATCGAAACTAAAAAAAAAAAATCCAATTAAAAAAAACCCCTGAGAATATTCACCACACCAGCGAACAGAATATCCCTCCAAAAATTCAGCTCACCAGCACCAGCACGAAGAAAACTCTATTTTCTTAACCGATTAATTCAGAGCCACCTCCACTTTGCCTTGTCTAAATAAACAAACCCGTAAACTGTTTTATACAGAGACAGCAAAATCTTGGTTTATTAAAGGACAGTGTTACTCCAGATAACACGTAAGTTTCTTCTTGCTTTTCAGAGACCTGCTTTCCCCTCCTCCCGTCTCCCCTCTCTTGCCTTCTTCCTTGCCTCTCACCTGTAAGATATTATTTTATCCTATGTTGAAGGGAGGGGGAAAGTCCCCGTTTATGAAAGTCGCTTTCTTTTTATTCATGGACTTGTTTTAAAATGTAAATTGCAACATAGTAATTTATTTTTAATTTGTAGTTGGATGTCGTGGACCAAACGCCAGAAAGTGTTCCCAAAACCTGACGTTAAATTGCCTGAAACTTTAAATTGTGCTTTTTTTCTCATTATAAAAA
CTCTTTCCCGCTCCTTCGTTTCTTTCCCTCATTTCTCTTCTTCCTGTCCCATTCCAACCACCCAGCGACGGCGAATCTCAGGCGTGTGCACAACGAGCGGGGGCCCTTCCGTGCGTGTCCCCCCAGAATCCTTGAACCGCCCTCTAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCCCCCCGGGGAGGGGGGCGAGAAGCAGGGCGGCCCGCAGCGGGGCGGGCTCATCCTTCGCGGGTGAACGGCCGTCGGAAACTCCCAGCAGGGCCCCGCACCCCTTGCCTTCATTTCGGCTGGGGAGGGGTCATGGAGGGGGGCCAGATGGGCGACGAACCTTCTTCCCCACCGCGAGCAGGGCCTGGCTGTGACCGAGCCCTCAAAATCATGTCCTTTGTAGCCGAGTTCAGGACAGGAGAACCTCCAAGTGGAGAAAAGCCGGAGACGTCAGTGACCCGAGTGAGACTGGCGTTGGAGAAGGGAGGGAAGGGGCTGCGGGAGGGGAGAGGCGGCGGGGAGGAGAGGCTGGGGCAACCCCAGCGCTGGCGTCGGCGGGGCTGGCGAAGGAATGAGAGCGAGCCAGCACGAGGCGGGGCGGAGACGCCAGGGCCACTCGGGAGCCGTGGGCGAAGGAAGGGTCTGCACGGGGTCCCGGGAGGACCCAGGAAGTCTGCGCGAACGGCGGGCGTGGGTCCGGAGGGCCCGGGGTGGGAGGTCTGCCGGGCGCCGGCGGCAGGCAGGTGGACTGCGGGGGGCGAACCGACGGCGGGCCGGGCGCCGGCGCGGGCGCAGGGCCGGGGCCCGGGCCAGGGCGGCCGGCGCGCGTGTGGTCAGCCCCGCGGTCCTCCGGCCTCCGGGAGCGGGCCGGCAGGGCTCGGCCTCCGGCTCATTCGGAGGCGGTTCTCACCTCCCATTGGCTGCCGCCGCTGGCGGGGCGGGGCTCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCGCCGGCAGCTCAGGGCAGAGTCTCCTGGAAGGCGCAGGCAGTGTGGCGAGAAGGGCGCCTGCTTGTTCTTTCTTTTTGTCTGCTTTCCCCCGTTTGCGCCTGGAAGCTGCGCCGCGAGTTCCTGCAAGGCGGTCTGCCGCGGCCGGGCCCGGCCTTCTCCCCTCGCAGCGACCCCGCCTCGCGGCCGCGCGGGCCCCGAGGTAGCCCGAGGCGCCGGAGGAGCCAGCCCCAGCGAGCGCCGGGAGAGGCGGCAGCGCAGCCGGACGCACAGCGCAGCGGGCCGGCACCAGCTCGGCCGGGCCCGGACTCGGACTCGGCGGCCGGCGCGGCGCGGCCCGGCCCGAGCGAGGGTGGGGGGCGGCGGGCGGCGCGGGGCGGCGGCGAGCGGGGGCCATGCAGGCGCGCTACTCCGTGTCCAGCCCCAACTCCCTGGGAGTGGTGCCCTACCTCGGCGGCGAGCAGAGCTACTACCGCGCGGCGGCCGCGGCGGCCGGGGGCGGCTACACCGCCATGCCGGCCCCCATGAGCGTGTACTCGCACCCTGCGCACGCCGAGCAGTACCCGGGCGGCATGGCCCGCGCCTACGGGCCCTACACGCCGCAGCCGCAGCCCAAGGACATGGTGAAGCAGCCCTATAGCTACATCGCGCTCATCACCATGGCCATCCAGAACGCCCCGGACAAGAAGATCACCCTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGACAACAAGCAGGGCTGGCAGAACAGCATCCGCCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCGCGCGACGACAAGAAGCCGGGCAAGGGCAGCTACTGGACGCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGGCGGCGGCGCTTCAAGAAGAAGGACGCGGTGAAGGACAAGGAGGAGAAGGACAGGCTGCACCTCAAGGAGCCGCCCCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACGCGCCCGGTCCGCAGCCGCCGCCCGTGCGCATCCAGGACATCAAGACCGAGAACGGTACGTGCCCCTCGCCGCCCCAGCCCCTGTCCCCGGCCGCCGCCCTGGGCAGCGGCAGCGCCGCCGCGGTGCCCAAGATCGAGAGCCCCGACAGCAGCAGCAGCAGCCTGTCCAGCGGGAGCAGCCCCCCGGGCAGCCTGCCGTCGGCGCGGCCGCTCAGCCTGGACGGTGCGGATTCCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCGCCGCCGCACCATAGCCAGGGCTTCAGCGTGGACAACATCATGACGTCGCTGCGGGGGTCGCCGCAGAGCGCGGCCGCGGAGCTCAGCTCCGGCCTTCTGGCCTCGGCGGCCGCGTCCTCGCGCGCGGGGATCGCACCCCCGCTGGCGCTCGGCGCCTACTCGCCCGGCCAGAGCTCCCTCTACAGCTCCCCCTGCAGCCAGACCTCCAGCGCGGGCAGCTCGGGCGGCGGCGGCGGCGGCGCGGGGGCCGCGGGGGGCGCGGGCGGCGCCGGGACCTACCACTGCAACCTGCAAGCCATGAGCCTGTACGCGGCCGGCGAGCGCGGGGGCCACTTGCAGGGCGCGCCCGGGGGCGCGGGCGGCTCGGCCGTGGACGACCCCCTGCCCGACTACTCTCTGCCTCCGGTCACCAGCAGCAGCTCGTCGTCCCTGAGTCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCCAGGAGGCCGGCCACCACCCTGCGGCCCACCAAGGCCGCCTCACCTCGTGGTACCTGAACCAGGCGGGCGGAGACCTGGGCCACTTGGCGAGCGCGGCGGCGGCGGCGGCGGCCGCAGGCTACCCGGGCCAGCAGCAGAACTTCCACTCGGTGCGGGAGATGTTCGAGTCACAGAGGATCGGCTTGAACAACTCTCCAGTGAACGGGAATAGTAGCTGTCAAATGGCCTTCCCTTCCAGCCAGTCTCTGTACCGCACGTCCGGAGCTTTCGTCTACGACTGTAGCAAGTTTTGACACACCCTCAAAGCCGAACTAAATCGAACCCCAAAGCAGGAAAAGCTAAAGGAACCCATCAAGGCAAAATCGAAACTAAAAAAAAAAAATCCAATTAAAAAAAACCCCTGAGAATATTCACCACACCAGCGAACAGAATATCCCTCCAAAAATTCAGCTCACCAGCACCAGCACGAAGAAAACTCTATTTTCTTAACCGATTAATTCAGAGCCACCTCCACTTTGCCTTGTCTAAATAAACAAACCCGTAAACTGTTTTATACAGAGACAGCAAAATCTTGGTTTATTAAAGGACAGTGTTACTCCAGATAACACGTAAGTTTCTTCTTGCTTTTCAGAGACCTGCTTTCCCCTCCTCCCGTCTCCCCTCTCTTGCCTTCTTCCTTGCCTCTCACCTGTAAGATATTATTTTATCCTATGTTGAAGGGAGGGGGAAAGTCCCCGTTTATGAAAGTCGCTTTCTTTTTATTCATGGACTTGTTTTAAAATGTAAATTGCAACATAGTAATTTATTTTTAATTTGTAGTTGGATGTCGTGGACCAAACGCCAGAAAGTGTTCCCAAAACCTGACGTTAAATTGCCTGAAACTTTAAATTGTGCTTTTTTTCTCATTATAAAAA
Task1_train_9932
A mutation found in FOXC1, LOC129995601 (forkhead box C1| ATAC-STARR-seq lymphoblastoid active region 23864) on Chromosome 6 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Axenfeld-Rieger syndrome type 3
TCCCGCTCCTTCGTTTCTTTCCCTCATTTCTCTTCTTCCTGTCCCATTCCAACCACCCAGCGACGGCGAATCTCAGGCGTGTGCACAACGAGCGGGGGCCCTTCCGTGCGTGTCCCCCCAGAATCCTTGAACCGCCCTCTAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCCCCCCGGGGAGGGGGGCGAGAAGCAGGGCGGCCCGCAGCGGGGCGGGCTCATCCTTCGCGGGTGAACGGCCGTCGGAAACTCCCAGCAGGGCCCCGCACCCCTTGCCTTCATTTCGGCTGGGGAGGGGTCATGGAGGGGGGCCAGATGGGCGACGAACCTTCTTCCCCACCGCGAGCAGGGCCTGGCTGTGACCGAGCCCTCAAAATCATGTCCTTTGTAGCCGAGTTCAGGACAGGAGAACCTCCAAGTGGAGAAAAGCCGGAGACGTCAGTGACCCGAGTGAGACTGGCGTTGGAGAAGGGAGGGAAGGGGCTGCGGGAGGGGAGAGGCGGCGGGGAGGAGAGGCTGGGGCAACCCCAGCGCTGGCGTCGGCGGGGCTGGCGAAGGAATGAGAGCGAGCCAGCACGAGGCGGGGCGGAGACGCCAGGGCCACTCGGGAGCCGTGGGCGAAGGAAGGGTCTGCACGGGGTCCCGGGAGGACCCAGGAAGTCTGCGCGAACGGCGGGCGTGGGTCCGGAGGGCCCGGGGTGGGAGGTCTGCCGGGCGCCGGCGGCAGGCAGGTGGACTGCGGGGGGCGAACCGACGGCGGGCCGGGCGCCGGCGCGGGCGCAGGGCCGGGGCCCGGGCCAGGGCGGCCGGCGCGCGTGTGGTCAGCCCCGCGGTCCTCCGGCCTCCGGGAGCGGGCCGGCAGGGCTCGGCCTCCGGCTCATTCGGAGGCGGTTCTCACCTCCCATTGGCTGCCGCCGCTGGCGGGGCGGGGCTCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCGCCGGCAGCTCAGGGCAGAGTCTCCTGGAAGGCGCAGGCAGTGTGGCGAGAAGGGCGCCTGCTTGTTCTTTCTTTTTGTCTGCTTTCCCCCGTTTGCGCCTGGAAGCTGCGCCGCGAGTTCCTGCAAGGCGGTCTGCCGCGGCCGGGCCCGGCCTTCTCCCCTCGCAGCGACCCCGCCTCGCGGCCGCGCGGGCCCCGAGGTAGCCCGAGGCGCCGGAGGAGCCAGCCCCAGCGAGCGCCGGGAGAGGCGGCAGCGCAGCCGGACGCACAGCGCAGCGGGCCGGCACCAGCTCGGCCGGGCCCGGACTCGGACTCGGCGGCCGGCGCGGCGCGGCCCGGCCCGAGCGAGGGTGGGGGGCGGCGGGCGGCGCGGGGCGGCGGCGAGCGGGGGCCATGCAGGCGCGCTACTCCGTGTCCAGCCCCAACTCCCTGGGAGTGGTGCCCTACCTCGGCGGCGAGCAGAGCTACTACCGCGCGGCGGCCGCGGCGGCCGGGGGCGGCTACACCGCCATGCCGGCCCCCATGAGCGTGTACTCGCACCCTGCGCACGCCGAGCAGTACCCGGGCGGCATGGCCCGCGCCTACGGGCCCTACACGCCGCAGCCGCAGCCCAAGGACATGGTGAAGCCGCCCTATAGCTACATCGCGCTCATCACCATGGCCATCCAGAACGCCCCGGACAAGAAGATCACCCTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGACAACAAGCAGGGCTGGCAGAACAGCATCCGCCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCGCGCGACGACAAGAAGCCGGGCAAGGGCAGCTACTGGACGCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGGCGGCGGCGCTTCAAGAAGAAGGACGCGGTGAAGGACAAGGAGGAGAAGGACAGGCTGCACCTCAAGGAGCCGCCCCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACGCGCCCGGTCCGCAGCCGCCGCCCGTGCGCATCCAGGACATCAAGACCGAGAACGGTACGTGCCCCTCGCCGCCCCAGCCCCTGTCCCCGGCCGCCGCCCTGGGCAGCGGCAGCGCCGCCGCGGTGCCCAAGATCGAGAGCCCCGACAGCAGCAGCAGCAGCCTGTCCAGCGGGAGCAGCCCCCCGGGCAGCCTGCCGTCGGCGCGGCCGCTCAGCCTGGACGGTGCGGATTCCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCGCCGCCGCACCATAGCCAGGGCTTCAGCGTGGACAACATCATGACGTCGCTGCGGGGGTCGCCGCAGAGCGCGGCCGCGGAGCTCAGCTCCGGCCTTCTGGCCTCGGCGGCCGCGTCCTCGCGCGCGGGGATCGCACCCCCGCTGGCGCTCGGCGCCTACTCGCCCGGCCAGAGCTCCCTCTACAGCTCCCCCTGCAGCCAGACCTCCAGCGCGGGCAGCTCGGGCGGCGGCGGCGGCGGCGCGGGGGCCGCGGGGGGCGCGGGCGGCGCCGGGACCTACCACTGCAACCTGCAAGCCATGAGCCTGTACGCGGCCGGCGAGCGCGGGGGCCACTTGCAGGGCGCGCCCGGGGGCGCGGGCGGCTCGGCCGTGGACGACCCCCTGCCCGACTACTCTCTGCCTCCGGTCACCAGCAGCAGCTCGTCGTCCCTGAGTCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCCAGGAGGCCGGCCACCACCCTGCGGCCCACCAAGGCCGCCTCACCTCGTGGTACCTGAACCAGGCGGGCGGAGACCTGGGCCACTTGGCGAGCGCGGCGGCGGCGGCGGCGGCCGCAGGCTACCCGGGCCAGCAGCAGAACTTCCACTCGGTGCGGGAGATGTTCGAGTCACAGAGGATCGGCTTGAACAACTCTCCAGTGAACGGGAATAGTAGCTGTCAAATGGCCTTCCCTTCCAGCCAGTCTCTGTACCGCACGTCCGGAGCTTTCGTCTACGACTGTAGCAAGTTTTGACACACCCTCAAAGCCGAACTAAATCGAACCCCAAAGCAGGAAAAGCTAAAGGAACCCATCAAGGCAAAATCGAAACTAAAAAAAAAAAATCCAATTAAAAAAAACCCCTGAGAATATTCACCACACCAGCGAACAGAATATCCCTCCAAAAATTCAGCTCACCAGCACCAGCACGAAGAAAACTCTATTTTCTTAACCGATTAATTCAGAGCCACCTCCACTTTGCCTTGTCTAAATAAACAAACCCGTAAACTGTTTTATACAGAGACAGCAAAATCTTGGTTTATTAAAGGACAGTGTTACTCCAGATAACACGTAAGTTTCTTCTTGCTTTTCAGAGACCTGCTTTCCCCTCCTCCCGTCTCCCCTCTCTTGCCTTCTTCCTTGCCTCTCACCTGTAAGATATTATTTTATCCTATGTTGAAGGGAGGGGGAAAGTCCCCGTTTATGAAAGTCGCTTTCTTTTTATTCATGGACTTGTTTTAAAATGTAAATTGCAACATAGTAATTTATTTTTAATTTGTAGTTGGATGTCGTGGACCAAACGCCAGAAAGTGTTCCCAAAACCTGACGTTAAATTGCCTGAAACTTTAAATTGTGCTTTTTTTCTCATTATAAAAAGGGAA
TCCCGCTCCTTCGTTTCTTTCCCTCATTTCTCTTCTTCCTGTCCCATTCCAACCACCCAGCGACGGCGAATCTCAGGCGTGTGCACAACGAGCGGGGGCCCTTCCGTGCGTGTCCCCCCAGAATCCTTGAACCGCCCTCTAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCCCCCCGGGGAGGGGGGCGAGAAGCAGGGCGGCCCGCAGCGGGGCGGGCTCATCCTTCGCGGGTGAACGGCCGTCGGAAACTCCCAGCAGGGCCCCGCACCCCTTGCCTTCATTTCGGCTGGGGAGGGGTCATGGAGGGGGGCCAGATGGGCGACGAACCTTCTTCCCCACCGCGAGCAGGGCCTGGCTGTGACCGAGCCCTCAAAATCATGTCCTTTGTAGCCGAGTTCAGGACAGGAGAACCTCCAAGTGGAGAAAAGCCGGAGACGTCAGTGACCCGAGTGAGACTGGCGTTGGAGAAGGGAGGGAAGGGGCTGCGGGAGGGGAGAGGCGGCGGGGAGGAGAGGCTGGGGCAACCCCAGCGCTGGCGTCGGCGGGGCTGGCGAAGGAATGAGAGCGAGCCAGCACGAGGCGGGGCGGAGACGCCAGGGCCACTCGGGAGCCGTGGGCGAAGGAAGGGTCTGCACGGGGTCCCGGGAGGACCCAGGAAGTCTGCGCGAACGGCGGGCGTGGGTCCGGAGGGCCCGGGGTGGGAGGTCTGCCGGGCGCCGGCGGCAGGCAGGTGGACTGCGGGGGGCGAACCGACGGCGGGCCGGGCGCCGGCGCGGGCGCAGGGCCGGGGCCCGGGCCAGGGCGGCCGGCGCGCGTGTGGTCAGCCCCGCGGTCCTCCGGCCTCCGGGAGCGGGCCGGCAGGGCTCGGCCTCCGGCTCATTCGGAGGCGGTTCTCACCTCCCATTGGCTGCCGCCGCTGGCGGGGCGGGGCTCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCGCCGGCAGCTCAGGGCAGAGTCTCCTGGAAGGCGCAGGCAGTGTGGCGAGAAGGGCGCCTGCTTGTTCTTTCTTTTTGTCTGCTTTCCCCCGTTTGCGCCTGGAAGCTGCGCCGCGAGTTCCTGCAAGGCGGTCTGCCGCGGCCGGGCCCGGCCTTCTCCCCTCGCAGCGACCCCGCCTCGCGGCCGCGCGGGCCCCGAGGTAGCCCGAGGCGCCGGAGGAGCCAGCCCCAGCGAGCGCCGGGAGAGGCGGCAGCGCAGCCGGACGCACAGCGCAGCGGGCCGGCACCAGCTCGGCCGGGCCCGGACTCGGACTCGGCGGCCGGCGCGGCGCGGCCCGGCCCGAGCGAGGGTGGGGGGCGGCGGGCGGCGCGGGGCGGCGGCGAGCGGGGGCCATGCAGGCGCGCTACTCCGTGTCCAGCCCCAACTCCCTGGGAGTGGTGCCCTACCTCGGCGGCGAGCAGAGCTACTACCGCGCGGCGGCCGCGGCGGCCGGGGGCGGCTACACCGCCATGCCGGCCCCCATGAGCGTGTACTCGCACCCTGCGCACGCCGAGCAGTACCCGGGCGGCATGGCCCGCGCCTACGGGCCCTACACGCCGCAGCCGCAGCCCAAGGACATGGTGAAGCCGCCCCATAGCTACATCGCGCTCATCACCATGGCCATCCAGAACGCCCCGGACAAGAAGATCACCCTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGACAACAAGCAGGGCTGGCAGAACAGCATCCGCCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCGCGCGACGACAAGAAGCCGGGCAAGGGCAGCTACTGGACGCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGGCGGCGGCGCTTCAAGAAGAAGGACGCGGTGAAGGACAAGGAGGAGAAGGACAGGCTGCACCTCAAGGAGCCGCCCCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACGCGCCCGGTCCGCAGCCGCCGCCCGTGCGCATCCAGGACATCAAGACCGAGAACGGTACGTGCCCCTCGCCGCCCCAGCCCCTGTCCCCGGCCGCCGCCCTGGGCAGCGGCAGCGCCGCCGCGGTGCCCAAGATCGAGAGCCCCGACAGCAGCAGCAGCAGCCTGTCCAGCGGGAGCAGCCCCCCGGGCAGCCTGCCGTCGGCGCGGCCGCTCAGCCTGGACGGTGCGGATTCCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCGCCGCCGCACCATAGCCAGGGCTTCAGCGTGGACAACATCATGACGTCGCTGCGGGGGTCGCCGCAGAGCGCGGCCGCGGAGCTCAGCTCCGGCCTTCTGGCCTCGGCGGCCGCGTCCTCGCGCGCGGGGATCGCACCCCCGCTGGCGCTCGGCGCCTACTCGCCCGGCCAGAGCTCCCTCTACAGCTCCCCCTGCAGCCAGACCTCCAGCGCGGGCAGCTCGGGCGGCGGCGGCGGCGGCGCGGGGGCCGCGGGGGGCGCGGGCGGCGCCGGGACCTACCACTGCAACCTGCAAGCCATGAGCCTGTACGCGGCCGGCGAGCGCGGGGGCCACTTGCAGGGCGCGCCCGGGGGCGCGGGCGGCTCGGCCGTGGACGACCCCCTGCCCGACTACTCTCTGCCTCCGGTCACCAGCAGCAGCTCGTCGTCCCTGAGTCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCCAGGAGGCCGGCCACCACCCTGCGGCCCACCAAGGCCGCCTCACCTCGTGGTACCTGAACCAGGCGGGCGGAGACCTGGGCCACTTGGCGAGCGCGGCGGCGGCGGCGGCGGCCGCAGGCTACCCGGGCCAGCAGCAGAACTTCCACTCGGTGCGGGAGATGTTCGAGTCACAGAGGATCGGCTTGAACAACTCTCCAGTGAACGGGAATAGTAGCTGTCAAATGGCCTTCCCTTCCAGCCAGTCTCTGTACCGCACGTCCGGAGCTTTCGTCTACGACTGTAGCAAGTTTTGACACACCCTCAAAGCCGAACTAAATCGAACCCCAAAGCAGGAAAAGCTAAAGGAACCCATCAAGGCAAAATCGAAACTAAAAAAAAAAAATCCAATTAAAAAAAACCCCTGAGAATATTCACCACACCAGCGAACAGAATATCCCTCCAAAAATTCAGCTCACCAGCACCAGCACGAAGAAAACTCTATTTTCTTAACCGATTAATTCAGAGCCACCTCCACTTTGCCTTGTCTAAATAAACAAACCCGTAAACTGTTTTATACAGAGACAGCAAAATCTTGGTTTATTAAAGGACAGTGTTACTCCAGATAACACGTAAGTTTCTTCTTGCTTTTCAGAGACCTGCTTTCCCCTCCTCCCGTCTCCCCTCTCTTGCCTTCTTCCTTGCCTCTCACCTGTAAGATATTATTTTATCCTATGTTGAAGGGAGGGGGAAAGTCCCCGTTTATGAAAGTCGCTTTCTTTTTATTCATGGACTTGTTTTAAAATGTAAATTGCAACATAGTAATTTATTTTTAATTTGTAGTTGGATGTCGTGGACCAAACGCCAGAAAGTGTTCCCAAAACCTGACGTTAAATTGCCTGAAACTTTAAATTGTGCTTTTTTTCTCATTATAAAAAGGGAA
Task1_train_9933
Assess the clinical impact of this variant on gene FOXC1, LOC129995601 (forkhead box C1| ATAC-STARR-seq lymphoblastoid active region 23864), found on Chromosome 6. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Axenfeld-Rieger syndrome type 3
GCTCCTTCGTTTCTTTCCCTCATTTCTCTTCTTCCTGTCCCATTCCAACCACCCAGCGACGGCGAATCTCAGGCGTGTGCACAACGAGCGGGGGCCCTTCCGTGCGTGTCCCCCCAGAATCCTTGAACCGCCCTCTAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCCCCCCGGGGAGGGGGGCGAGAAGCAGGGCGGCCCGCAGCGGGGCGGGCTCATCCTTCGCGGGTGAACGGCCGTCGGAAACTCCCAGCAGGGCCCCGCACCCCTTGCCTTCATTTCGGCTGGGGAGGGGTCATGGAGGGGGGCCAGATGGGCGACGAACCTTCTTCCCCACCGCGAGCAGGGCCTGGCTGTGACCGAGCCCTCAAAATCATGTCCTTTGTAGCCGAGTTCAGGACAGGAGAACCTCCAAGTGGAGAAAAGCCGGAGACGTCAGTGACCCGAGTGAGACTGGCGTTGGAGAAGGGAGGGAAGGGGCTGCGGGAGGGGAGAGGCGGCGGGGAGGAGAGGCTGGGGCAACCCCAGCGCTGGCGTCGGCGGGGCTGGCGAAGGAATGAGAGCGAGCCAGCACGAGGCGGGGCGGAGACGCCAGGGCCACTCGGGAGCCGTGGGCGAAGGAAGGGTCTGCACGGGGTCCCGGGAGGACCCAGGAAGTCTGCGCGAACGGCGGGCGTGGGTCCGGAGGGCCCGGGGTGGGAGGTCTGCCGGGCGCCGGCGGCAGGCAGGTGGACTGCGGGGGGCGAACCGACGGCGGGCCGGGCGCCGGCGCGGGCGCAGGGCCGGGGCCCGGGCCAGGGCGGCCGGCGCGCGTGTGGTCAGCCCCGCGGTCCTCCGGCCTCCGGGAGCGGGCCGGCAGGGCTCGGCCTCCGGCTCATTCGGAGGCGGTTCTCACCTCCCATTGGCTGCCGCCGCTGGCGGGGCGGGGCTCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCGCCGGCAGCTCAGGGCAGAGTCTCCTGGAAGGCGCAGGCAGTGTGGCGAGAAGGGCGCCTGCTTGTTCTTTCTTTTTGTCTGCTTTCCCCCGTTTGCGCCTGGAAGCTGCGCCGCGAGTTCCTGCAAGGCGGTCTGCCGCGGCCGGGCCCGGCCTTCTCCCCTCGCAGCGACCCCGCCTCGCGGCCGCGCGGGCCCCGAGGTAGCCCGAGGCGCCGGAGGAGCCAGCCCCAGCGAGCGCCGGGAGAGGCGGCAGCGCAGCCGGACGCACAGCGCAGCGGGCCGGCACCAGCTCGGCCGGGCCCGGACTCGGACTCGGCGGCCGGCGCGGCGCGGCCCGGCCCGAGCGAGGGTGGGGGGCGGCGGGCGGCGCGGGGCGGCGGCGAGCGGGGGCCATGCAGGCGCGCTACTCCGTGTCCAGCCCCAACTCCCTGGGAGTGGTGCCCTACCTCGGCGGCGAGCAGAGCTACTACCGCGCGGCGGCCGCGGCGGCCGGGGGCGGCTACACCGCCATGCCGGCCCCCATGAGCGTGTACTCGCACCCTGCGCACGCCGAGCAGTACCCGGGCGGCATGGCCCGCGCCTACGGGCCCTACACGCCGCAGCCGCAGCCCAAGGACATGGTGAAGCCGCCCTATAGCTACATCGCGCTCATCACCATGGCCATCCAGAACGCCCCGGACAAGAAGATCACCCTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGACAACAAGCAGGGCTGGCAGAACAGCATCCGCCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCGCGCGACGACAAGAAGCCGGGCAAGGGCAGCTACTGGACGCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGGCGGCGGCGCTTCAAGAAGAAGGACGCGGTGAAGGACAAGGAGGAGAAGGACAGGCTGCACCTCAAGGAGCCGCCCCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACGCGCCCGGTCCGCAGCCGCCGCCCGTGCGCATCCAGGACATCAAGACCGAGAACGGTACGTGCCCCTCGCCGCCCCAGCCCCTGTCCCCGGCCGCCGCCCTGGGCAGCGGCAGCGCCGCCGCGGTGCCCAAGATCGAGAGCCCCGACAGCAGCAGCAGCAGCCTGTCCAGCGGGAGCAGCCCCCCGGGCAGCCTGCCGTCGGCGCGGCCGCTCAGCCTGGACGGTGCGGATTCCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCGCCGCCGCACCATAGCCAGGGCTTCAGCGTGGACAACATCATGACGTCGCTGCGGGGGTCGCCGCAGAGCGCGGCCGCGGAGCTCAGCTCCGGCCTTCTGGCCTCGGCGGCCGCGTCCTCGCGCGCGGGGATCGCACCCCCGCTGGCGCTCGGCGCCTACTCGCCCGGCCAGAGCTCCCTCTACAGCTCCCCCTGCAGCCAGACCTCCAGCGCGGGCAGCTCGGGCGGCGGCGGCGGCGGCGCGGGGGCCGCGGGGGGCGCGGGCGGCGCCGGGACCTACCACTGCAACCTGCAAGCCATGAGCCTGTACGCGGCCGGCGAGCGCGGGGGCCACTTGCAGGGCGCGCCCGGGGGCGCGGGCGGCTCGGCCGTGGACGACCCCCTGCCCGACTACTCTCTGCCTCCGGTCACCAGCAGCAGCTCGTCGTCCCTGAGTCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCCAGGAGGCCGGCCACCACCCTGCGGCCCACCAAGGCCGCCTCACCTCGTGGTACCTGAACCAGGCGGGCGGAGACCTGGGCCACTTGGCGAGCGCGGCGGCGGCGGCGGCGGCCGCAGGCTACCCGGGCCAGCAGCAGAACTTCCACTCGGTGCGGGAGATGTTCGAGTCACAGAGGATCGGCTTGAACAACTCTCCAGTGAACGGGAATAGTAGCTGTCAAATGGCCTTCCCTTCCAGCCAGTCTCTGTACCGCACGTCCGGAGCTTTCGTCTACGACTGTAGCAAGTTTTGACACACCCTCAAAGCCGAACTAAATCGAACCCCAAAGCAGGAAAAGCTAAAGGAACCCATCAAGGCAAAATCGAAACTAAAAAAAAAAAATCCAATTAAAAAAAACCCCTGAGAATATTCACCACACCAGCGAACAGAATATCCCTCCAAAAATTCAGCTCACCAGCACCAGCACGAAGAAAACTCTATTTTCTTAACCGATTAATTCAGAGCCACCTCCACTTTGCCTTGTCTAAATAAACAAACCCGTAAACTGTTTTATACAGAGACAGCAAAATCTTGGTTTATTAAAGGACAGTGTTACTCCAGATAACACGTAAGTTTCTTCTTGCTTTTCAGAGACCTGCTTTCCCCTCCTCCCGTCTCCCCTCTCTTGCCTTCTTCCTTGCCTCTCACCTGTAAGATATTATTTTATCCTATGTTGAAGGGAGGGGGAAAGTCCCCGTTTATGAAAGTCGCTTTCTTTTTATTCATGGACTTGTTTTAAAATGTAAATTGCAACATAGTAATTTATTTTTAATTTGTAGTTGGATGTCGTGGACCAAACGCCAGAAAGTGTTCCCAAAACCTGACGTTAAATTGCCTGAAACTTTAAATTGTGCTTTTTTTCTCATTATAAAAAGGGAAACTG
GCTCCTTCGTTTCTTTCCCTCATTTCTCTTCTTCCTGTCCCATTCCAACCACCCAGCGACGGCGAATCTCAGGCGTGTGCACAACGAGCGGGGGCCCTTCCGTGCGTGTCCCCCCAGAATCCTTGAACCGCCCTCTAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCCCCCCGGGGAGGGGGGCGAGAAGCAGGGCGGCCCGCAGCGGGGCGGGCTCATCCTTCGCGGGTGAACGGCCGTCGGAAACTCCCAGCAGGGCCCCGCACCCCTTGCCTTCATTTCGGCTGGGGAGGGGTCATGGAGGGGGGCCAGATGGGCGACGAACCTTCTTCCCCACCGCGAGCAGGGCCTGGCTGTGACCGAGCCCTCAAAATCATGTCCTTTGTAGCCGAGTTCAGGACAGGAGAACCTCCAAGTGGAGAAAAGCCGGAGACGTCAGTGACCCGAGTGAGACTGGCGTTGGAGAAGGGAGGGAAGGGGCTGCGGGAGGGGAGAGGCGGCGGGGAGGAGAGGCTGGGGCAACCCCAGCGCTGGCGTCGGCGGGGCTGGCGAAGGAATGAGAGCGAGCCAGCACGAGGCGGGGCGGAGACGCCAGGGCCACTCGGGAGCCGTGGGCGAAGGAAGGGTCTGCACGGGGTCCCGGGAGGACCCAGGAAGTCTGCGCGAACGGCGGGCGTGGGTCCGGAGGGCCCGGGGTGGGAGGTCTGCCGGGCGCCGGCGGCAGGCAGGTGGACTGCGGGGGGCGAACCGACGGCGGGCCGGGCGCCGGCGCGGGCGCAGGGCCGGGGCCCGGGCCAGGGCGGCCGGCGCGCGTGTGGTCAGCCCCGCGGTCCTCCGGCCTCCGGGAGCGGGCCGGCAGGGCTCGGCCTCCGGCTCATTCGGAGGCGGTTCTCACCTCCCATTGGCTGCCGCCGCTGGCGGGGCGGGGCTCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCGCCGGCAGCTCAGGGCAGAGTCTCCTGGAAGGCGCAGGCAGTGTGGCGAGAAGGGCGCCTGCTTGTTCTTTCTTTTTGTCTGCTTTCCCCCGTTTGCGCCTGGAAGCTGCGCCGCGAGTTCCTGCAAGGCGGTCTGCCGCGGCCGGGCCCGGCCTTCTCCCCTCGCAGCGACCCCGCCTCGCGGCCGCGCGGGCCCCGAGGTAGCCCGAGGCGCCGGAGGAGCCAGCCCCAGCGAGCGCCGGGAGAGGCGGCAGCGCAGCCGGACGCACAGCGCAGCGGGCCGGCACCAGCTCGGCCGGGCCCGGACTCGGACTCGGCGGCCGGCGCGGCGCGGCCCGGCCCGAGCGAGGGTGGGGGGCGGCGGGCGGCGCGGGGCGGCGGCGAGCGGGGGCCATGCAGGCGCGCTACTCCGTGTCCAGCCCCAACTCCCTGGGAGTGGTGCCCTACCTCGGCGGCGAGCAGAGCTACTACCGCGCGGCGGCCGCGGCGGCCGGGGGCGGCTACACCGCCATGCCGGCCCCCATGAGCGTGTACTCGCACCCTGCGCACGCCGAGCAGTACCCGGGCGGCATGGCCCGCGCCTACGGGCCCTACACGCCGCAGCCGCAGCCCAAGGACATGGTGAAGCCGCCCTATACCTACATCGCGCTCATCACCATGGCCATCCAGAACGCCCCGGACAAGAAGATCACCCTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGACAACAAGCAGGGCTGGCAGAACAGCATCCGCCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCGCGCGACGACAAGAAGCCGGGCAAGGGCAGCTACTGGACGCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGGCGGCGGCGCTTCAAGAAGAAGGACGCGGTGAAGGACAAGGAGGAGAAGGACAGGCTGCACCTCAAGGAGCCGCCCCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACGCGCCCGGTCCGCAGCCGCCGCCCGTGCGCATCCAGGACATCAAGACCGAGAACGGTACGTGCCCCTCGCCGCCCCAGCCCCTGTCCCCGGCCGCCGCCCTGGGCAGCGGCAGCGCCGCCGCGGTGCCCAAGATCGAGAGCCCCGACAGCAGCAGCAGCAGCCTGTCCAGCGGGAGCAGCCCCCCGGGCAGCCTGCCGTCGGCGCGGCCGCTCAGCCTGGACGGTGCGGATTCCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCGCCGCCGCACCATAGCCAGGGCTTCAGCGTGGACAACATCATGACGTCGCTGCGGGGGTCGCCGCAGAGCGCGGCCGCGGAGCTCAGCTCCGGCCTTCTGGCCTCGGCGGCCGCGTCCTCGCGCGCGGGGATCGCACCCCCGCTGGCGCTCGGCGCCTACTCGCCCGGCCAGAGCTCCCTCTACAGCTCCCCCTGCAGCCAGACCTCCAGCGCGGGCAGCTCGGGCGGCGGCGGCGGCGGCGCGGGGGCCGCGGGGGGCGCGGGCGGCGCCGGGACCTACCACTGCAACCTGCAAGCCATGAGCCTGTACGCGGCCGGCGAGCGCGGGGGCCACTTGCAGGGCGCGCCCGGGGGCGCGGGCGGCTCGGCCGTGGACGACCCCCTGCCCGACTACTCTCTGCCTCCGGTCACCAGCAGCAGCTCGTCGTCCCTGAGTCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCCAGGAGGCCGGCCACCACCCTGCGGCCCACCAAGGCCGCCTCACCTCGTGGTACCTGAACCAGGCGGGCGGAGACCTGGGCCACTTGGCGAGCGCGGCGGCGGCGGCGGCGGCCGCAGGCTACCCGGGCCAGCAGCAGAACTTCCACTCGGTGCGGGAGATGTTCGAGTCACAGAGGATCGGCTTGAACAACTCTCCAGTGAACGGGAATAGTAGCTGTCAAATGGCCTTCCCTTCCAGCCAGTCTCTGTACCGCACGTCCGGAGCTTTCGTCTACGACTGTAGCAAGTTTTGACACACCCTCAAAGCCGAACTAAATCGAACCCCAAAGCAGGAAAAGCTAAAGGAACCCATCAAGGCAAAATCGAAACTAAAAAAAAAAAATCCAATTAAAAAAAACCCCTGAGAATATTCACCACACCAGCGAACAGAATATCCCTCCAAAAATTCAGCTCACCAGCACCAGCACGAAGAAAACTCTATTTTCTTAACCGATTAATTCAGAGCCACCTCCACTTTGCCTTGTCTAAATAAACAAACCCGTAAACTGTTTTATACAGAGACAGCAAAATCTTGGTTTATTAAAGGACAGTGTTACTCCAGATAACACGTAAGTTTCTTCTTGCTTTTCAGAGACCTGCTTTCCCCTCCTCCCGTCTCCCCTCTCTTGCCTTCTTCCTTGCCTCTCACCTGTAAGATATTATTTTATCCTATGTTGAAGGGAGGGGGAAAGTCCCCGTTTATGAAAGTCGCTTTCTTTTTATTCATGGACTTGTTTTAAAATGTAAATTGCAACATAGTAATTTATTTTTAATTTGTAGTTGGATGTCGTGGACCAAACGCCAGAAAGTGTTCCCAAAACCTGACGTTAAATTGCCTGAAACTTTAAATTGTGCTTTTTTTCTCATTATAAAAAGGGAAACTG
Task1_train_9934
Here is a mutation in FOXC1, LOC129995601 (forkhead box C1| ATAC-STARR-seq lymphoblastoid active region 23864) on Chromosome 6. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Axenfeld-Rieger syndrome type 3
CTCCTTCGTTTCTTTCCCTCATTTCTCTTCTTCCTGTCCCATTCCAACCACCCAGCGACGGCGAATCTCAGGCGTGTGCACAACGAGCGGGGGCCCTTCCGTGCGTGTCCCCCCAGAATCCTTGAACCGCCCTCTAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCCCCCCGGGGAGGGGGGCGAGAAGCAGGGCGGCCCGCAGCGGGGCGGGCTCATCCTTCGCGGGTGAACGGCCGTCGGAAACTCCCAGCAGGGCCCCGCACCCCTTGCCTTCATTTCGGCTGGGGAGGGGTCATGGAGGGGGGCCAGATGGGCGACGAACCTTCTTCCCCACCGCGAGCAGGGCCTGGCTGTGACCGAGCCCTCAAAATCATGTCCTTTGTAGCCGAGTTCAGGACAGGAGAACCTCCAAGTGGAGAAAAGCCGGAGACGTCAGTGACCCGAGTGAGACTGGCGTTGGAGAAGGGAGGGAAGGGGCTGCGGGAGGGGAGAGGCGGCGGGGAGGAGAGGCTGGGGCAACCCCAGCGCTGGCGTCGGCGGGGCTGGCGAAGGAATGAGAGCGAGCCAGCACGAGGCGGGGCGGAGACGCCAGGGCCACTCGGGAGCCGTGGGCGAAGGAAGGGTCTGCACGGGGTCCCGGGAGGACCCAGGAAGTCTGCGCGAACGGCGGGCGTGGGTCCGGAGGGCCCGGGGTGGGAGGTCTGCCGGGCGCCGGCGGCAGGCAGGTGGACTGCGGGGGGCGAACCGACGGCGGGCCGGGCGCCGGCGCGGGCGCAGGGCCGGGGCCCGGGCCAGGGCGGCCGGCGCGCGTGTGGTCAGCCCCGCGGTCCTCCGGCCTCCGGGAGCGGGCCGGCAGGGCTCGGCCTCCGGCTCATTCGGAGGCGGTTCTCACCTCCCATTGGCTGCCGCCGCTGGCGGGGCGGGGCTCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCGCCGGCAGCTCAGGGCAGAGTCTCCTGGAAGGCGCAGGCAGTGTGGCGAGAAGGGCGCCTGCTTGTTCTTTCTTTTTGTCTGCTTTCCCCCGTTTGCGCCTGGAAGCTGCGCCGCGAGTTCCTGCAAGGCGGTCTGCCGCGGCCGGGCCCGGCCTTCTCCCCTCGCAGCGACCCCGCCTCGCGGCCGCGCGGGCCCCGAGGTAGCCCGAGGCGCCGGAGGAGCCAGCCCCAGCGAGCGCCGGGAGAGGCGGCAGCGCAGCCGGACGCACAGCGCAGCGGGCCGGCACCAGCTCGGCCGGGCCCGGACTCGGACTCGGCGGCCGGCGCGGCGCGGCCCGGCCCGAGCGAGGGTGGGGGGCGGCGGGCGGCGCGGGGCGGCGGCGAGCGGGGGCCATGCAGGCGCGCTACTCCGTGTCCAGCCCCAACTCCCTGGGAGTGGTGCCCTACCTCGGCGGCGAGCAGAGCTACTACCGCGCGGCGGCCGCGGCGGCCGGGGGCGGCTACACCGCCATGCCGGCCCCCATGAGCGTGTACTCGCACCCTGCGCACGCCGAGCAGTACCCGGGCGGCATGGCCCGCGCCTACGGGCCCTACACGCCGCAGCCGCAGCCCAAGGACATGGTGAAGCCGCCCTATAGCTACATCGCGCTCATCACCATGGCCATCCAGAACGCCCCGGACAAGAAGATCACCCTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGACAACAAGCAGGGCTGGCAGAACAGCATCCGCCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCGCGCGACGACAAGAAGCCGGGCAAGGGCAGCTACTGGACGCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGGCGGCGGCGCTTCAAGAAGAAGGACGCGGTGAAGGACAAGGAGGAGAAGGACAGGCTGCACCTCAAGGAGCCGCCCCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACGCGCCCGGTCCGCAGCCGCCGCCCGTGCGCATCCAGGACATCAAGACCGAGAACGGTACGTGCCCCTCGCCGCCCCAGCCCCTGTCCCCGGCCGCCGCCCTGGGCAGCGGCAGCGCCGCCGCGGTGCCCAAGATCGAGAGCCCCGACAGCAGCAGCAGCAGCCTGTCCAGCGGGAGCAGCCCCCCGGGCAGCCTGCCGTCGGCGCGGCCGCTCAGCCTGGACGGTGCGGATTCCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCGCCGCCGCACCATAGCCAGGGCTTCAGCGTGGACAACATCATGACGTCGCTGCGGGGGTCGCCGCAGAGCGCGGCCGCGGAGCTCAGCTCCGGCCTTCTGGCCTCGGCGGCCGCGTCCTCGCGCGCGGGGATCGCACCCCCGCTGGCGCTCGGCGCCTACTCGCCCGGCCAGAGCTCCCTCTACAGCTCCCCCTGCAGCCAGACCTCCAGCGCGGGCAGCTCGGGCGGCGGCGGCGGCGGCGCGGGGGCCGCGGGGGGCGCGGGCGGCGCCGGGACCTACCACTGCAACCTGCAAGCCATGAGCCTGTACGCGGCCGGCGAGCGCGGGGGCCACTTGCAGGGCGCGCCCGGGGGCGCGGGCGGCTCGGCCGTGGACGACCCCCTGCCCGACTACTCTCTGCCTCCGGTCACCAGCAGCAGCTCGTCGTCCCTGAGTCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCCAGGAGGCCGGCCACCACCCTGCGGCCCACCAAGGCCGCCTCACCTCGTGGTACCTGAACCAGGCGGGCGGAGACCTGGGCCACTTGGCGAGCGCGGCGGCGGCGGCGGCGGCCGCAGGCTACCCGGGCCAGCAGCAGAACTTCCACTCGGTGCGGGAGATGTTCGAGTCACAGAGGATCGGCTTGAACAACTCTCCAGTGAACGGGAATAGTAGCTGTCAAATGGCCTTCCCTTCCAGCCAGTCTCTGTACCGCACGTCCGGAGCTTTCGTCTACGACTGTAGCAAGTTTTGACACACCCTCAAAGCCGAACTAAATCGAACCCCAAAGCAGGAAAAGCTAAAGGAACCCATCAAGGCAAAATCGAAACTAAAAAAAAAAAATCCAATTAAAAAAAACCCCTGAGAATATTCACCACACCAGCGAACAGAATATCCCTCCAAAAATTCAGCTCACCAGCACCAGCACGAAGAAAACTCTATTTTCTTAACCGATTAATTCAGAGCCACCTCCACTTTGCCTTGTCTAAATAAACAAACCCGTAAACTGTTTTATACAGAGACAGCAAAATCTTGGTTTATTAAAGGACAGTGTTACTCCAGATAACACGTAAGTTTCTTCTTGCTTTTCAGAGACCTGCTTTCCCCTCCTCCCGTCTCCCCTCTCTTGCCTTCTTCCTTGCCTCTCACCTGTAAGATATTATTTTATCCTATGTTGAAGGGAGGGGGAAAGTCCCCGTTTATGAAAGTCGCTTTCTTTTTATTCATGGACTTGTTTTAAAATGTAAATTGCAACATAGTAATTTATTTTTAATTTGTAGTTGGATGTCGTGGACCAAACGCCAGAAAGTGTTCCCAAAACCTGACGTTAAATTGCCTGAAACTTTAAATTGTGCTTTTTTTCTCATTATAAAAAGGGAAACTGT
CTCCTTCGTTTCTTTCCCTCATTTCTCTTCTTCCTGTCCCATTCCAACCACCCAGCGACGGCGAATCTCAGGCGTGTGCACAACGAGCGGGGGCCCTTCCGTGCGTGTCCCCCCAGAATCCTTGAACCGCCCTCTAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCCCCCCGGGGAGGGGGGCGAGAAGCAGGGCGGCCCGCAGCGGGGCGGGCTCATCCTTCGCGGGTGAACGGCCGTCGGAAACTCCCAGCAGGGCCCCGCACCCCTTGCCTTCATTTCGGCTGGGGAGGGGTCATGGAGGGGGGCCAGATGGGCGACGAACCTTCTTCCCCACCGCGAGCAGGGCCTGGCTGTGACCGAGCCCTCAAAATCATGTCCTTTGTAGCCGAGTTCAGGACAGGAGAACCTCCAAGTGGAGAAAAGCCGGAGACGTCAGTGACCCGAGTGAGACTGGCGTTGGAGAAGGGAGGGAAGGGGCTGCGGGAGGGGAGAGGCGGCGGGGAGGAGAGGCTGGGGCAACCCCAGCGCTGGCGTCGGCGGGGCTGGCGAAGGAATGAGAGCGAGCCAGCACGAGGCGGGGCGGAGACGCCAGGGCCACTCGGGAGCCGTGGGCGAAGGAAGGGTCTGCACGGGGTCCCGGGAGGACCCAGGAAGTCTGCGCGAACGGCGGGCGTGGGTCCGGAGGGCCCGGGGTGGGAGGTCTGCCGGGCGCCGGCGGCAGGCAGGTGGACTGCGGGGGGCGAACCGACGGCGGGCCGGGCGCCGGCGCGGGCGCAGGGCCGGGGCCCGGGCCAGGGCGGCCGGCGCGCGTGTGGTCAGCCCCGCGGTCCTCCGGCCTCCGGGAGCGGGCCGGCAGGGCTCGGCCTCCGGCTCATTCGGAGGCGGTTCTCACCTCCCATTGGCTGCCGCCGCTGGCGGGGCGGGGCTCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCGCCGGCAGCTCAGGGCAGAGTCTCCTGGAAGGCGCAGGCAGTGTGGCGAGAAGGGCGCCTGCTTGTTCTTTCTTTTTGTCTGCTTTCCCCCGTTTGCGCCTGGAAGCTGCGCCGCGAGTTCCTGCAAGGCGGTCTGCCGCGGCCGGGCCCGGCCTTCTCCCCTCGCAGCGACCCCGCCTCGCGGCCGCGCGGGCCCCGAGGTAGCCCGAGGCGCCGGAGGAGCCAGCCCCAGCGAGCGCCGGGAGAGGCGGCAGCGCAGCCGGACGCACAGCGCAGCGGGCCGGCACCAGCTCGGCCGGGCCCGGACTCGGACTCGGCGGCCGGCGCGGCGCGGCCCGGCCCGAGCGAGGGTGGGGGGCGGCGGGCGGCGCGGGGCGGCGGCGAGCGGGGGCCATGCAGGCGCGCTACTCCGTGTCCAGCCCCAACTCCCTGGGAGTGGTGCCCTACCTCGGCGGCGAGCAGAGCTACTACCGCGCGGCGGCCGCGGCGGCCGGGGGCGGCTACACCGCCATGCCGGCCCCCATGAGCGTGTACTCGCACCCTGCGCACGCCGAGCAGTACCCGGGCGGCATGGCCCGCGCCTACGGGCCCTACACGCCGCAGCCGCAGCCCAAGGACATGGTGAAGCCGCCCTATAGATACATCGCGCTCATCACCATGGCCATCCAGAACGCCCCGGACAAGAAGATCACCCTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGACAACAAGCAGGGCTGGCAGAACAGCATCCGCCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCGCGCGACGACAAGAAGCCGGGCAAGGGCAGCTACTGGACGCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGGCGGCGGCGCTTCAAGAAGAAGGACGCGGTGAAGGACAAGGAGGAGAAGGACAGGCTGCACCTCAAGGAGCCGCCCCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACGCGCCCGGTCCGCAGCCGCCGCCCGTGCGCATCCAGGACATCAAGACCGAGAACGGTACGTGCCCCTCGCCGCCCCAGCCCCTGTCCCCGGCCGCCGCCCTGGGCAGCGGCAGCGCCGCCGCGGTGCCCAAGATCGAGAGCCCCGACAGCAGCAGCAGCAGCCTGTCCAGCGGGAGCAGCCCCCCGGGCAGCCTGCCGTCGGCGCGGCCGCTCAGCCTGGACGGTGCGGATTCCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCGCCGCCGCACCATAGCCAGGGCTTCAGCGTGGACAACATCATGACGTCGCTGCGGGGGTCGCCGCAGAGCGCGGCCGCGGAGCTCAGCTCCGGCCTTCTGGCCTCGGCGGCCGCGTCCTCGCGCGCGGGGATCGCACCCCCGCTGGCGCTCGGCGCCTACTCGCCCGGCCAGAGCTCCCTCTACAGCTCCCCCTGCAGCCAGACCTCCAGCGCGGGCAGCTCGGGCGGCGGCGGCGGCGGCGCGGGGGCCGCGGGGGGCGCGGGCGGCGCCGGGACCTACCACTGCAACCTGCAAGCCATGAGCCTGTACGCGGCCGGCGAGCGCGGGGGCCACTTGCAGGGCGCGCCCGGGGGCGCGGGCGGCTCGGCCGTGGACGACCCCCTGCCCGACTACTCTCTGCCTCCGGTCACCAGCAGCAGCTCGTCGTCCCTGAGTCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCCAGGAGGCCGGCCACCACCCTGCGGCCCACCAAGGCCGCCTCACCTCGTGGTACCTGAACCAGGCGGGCGGAGACCTGGGCCACTTGGCGAGCGCGGCGGCGGCGGCGGCGGCCGCAGGCTACCCGGGCCAGCAGCAGAACTTCCACTCGGTGCGGGAGATGTTCGAGTCACAGAGGATCGGCTTGAACAACTCTCCAGTGAACGGGAATAGTAGCTGTCAAATGGCCTTCCCTTCCAGCCAGTCTCTGTACCGCACGTCCGGAGCTTTCGTCTACGACTGTAGCAAGTTTTGACACACCCTCAAAGCCGAACTAAATCGAACCCCAAAGCAGGAAAAGCTAAAGGAACCCATCAAGGCAAAATCGAAACTAAAAAAAAAAAATCCAATTAAAAAAAACCCCTGAGAATATTCACCACACCAGCGAACAGAATATCCCTCCAAAAATTCAGCTCACCAGCACCAGCACGAAGAAAACTCTATTTTCTTAACCGATTAATTCAGAGCCACCTCCACTTTGCCTTGTCTAAATAAACAAACCCGTAAACTGTTTTATACAGAGACAGCAAAATCTTGGTTTATTAAAGGACAGTGTTACTCCAGATAACACGTAAGTTTCTTCTTGCTTTTCAGAGACCTGCTTTCCCCTCCTCCCGTCTCCCCTCTCTTGCCTTCTTCCTTGCCTCTCACCTGTAAGATATTATTTTATCCTATGTTGAAGGGAGGGGGAAAGTCCCCGTTTATGAAAGTCGCTTTCTTTTTATTCATGGACTTGTTTTAAAATGTAAATTGCAACATAGTAATTTATTTTTAATTTGTAGTTGGATGTCGTGGACCAAACGCCAGAAAGTGTTCCCAAAACCTGACGTTAAATTGCCTGAAACTTTAAATTGTGCTTTTTTTCTCATTATAAAAAGGGAAACTGT
Task1_train_9935
This sequence change occurs on Chromosome 6, altering FOXC1, LOC129995601 (forkhead box C1| ATAC-STARR-seq lymphoblastoid active region 23864). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Axenfeld-Rieger syndrome type 3
CTCCTTCGTTTCTTTCCCTCATTTCTCTTCTTCCTGTCCCATTCCAACCACCCAGCGACGGCGAATCTCAGGCGTGTGCACAACGAGCGGGGGCCCTTCCGTGCGTGTCCCCCCAGAATCCTTGAACCGCCCTCTAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCCCCCCGGGGAGGGGGGCGAGAAGCAGGGCGGCCCGCAGCGGGGCGGGCTCATCCTTCGCGGGTGAACGGCCGTCGGAAACTCCCAGCAGGGCCCCGCACCCCTTGCCTTCATTTCGGCTGGGGAGGGGTCATGGAGGGGGGCCAGATGGGCGACGAACCTTCTTCCCCACCGCGAGCAGGGCCTGGCTGTGACCGAGCCCTCAAAATCATGTCCTTTGTAGCCGAGTTCAGGACAGGAGAACCTCCAAGTGGAGAAAAGCCGGAGACGTCAGTGACCCGAGTGAGACTGGCGTTGGAGAAGGGAGGGAAGGGGCTGCGGGAGGGGAGAGGCGGCGGGGAGGAGAGGCTGGGGCAACCCCAGCGCTGGCGTCGGCGGGGCTGGCGAAGGAATGAGAGCGAGCCAGCACGAGGCGGGGCGGAGACGCCAGGGCCACTCGGGAGCCGTGGGCGAAGGAAGGGTCTGCACGGGGTCCCGGGAGGACCCAGGAAGTCTGCGCGAACGGCGGGCGTGGGTCCGGAGGGCCCGGGGTGGGAGGTCTGCCGGGCGCCGGCGGCAGGCAGGTGGACTGCGGGGGGCGAACCGACGGCGGGCCGGGCGCCGGCGCGGGCGCAGGGCCGGGGCCCGGGCCAGGGCGGCCGGCGCGCGTGTGGTCAGCCCCGCGGTCCTCCGGCCTCCGGGAGCGGGCCGGCAGGGCTCGGCCTCCGGCTCATTCGGAGGCGGTTCTCACCTCCCATTGGCTGCCGCCGCTGGCGGGGCGGGGCTCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCGCCGGCAGCTCAGGGCAGAGTCTCCTGGAAGGCGCAGGCAGTGTGGCGAGAAGGGCGCCTGCTTGTTCTTTCTTTTTGTCTGCTTTCCCCCGTTTGCGCCTGGAAGCTGCGCCGCGAGTTCCTGCAAGGCGGTCTGCCGCGGCCGGGCCCGGCCTTCTCCCCTCGCAGCGACCCCGCCTCGCGGCCGCGCGGGCCCCGAGGTAGCCCGAGGCGCCGGAGGAGCCAGCCCCAGCGAGCGCCGGGAGAGGCGGCAGCGCAGCCGGACGCACAGCGCAGCGGGCCGGCACCAGCTCGGCCGGGCCCGGACTCGGACTCGGCGGCCGGCGCGGCGCGGCCCGGCCCGAGCGAGGGTGGGGGGCGGCGGGCGGCGCGGGGCGGCGGCGAGCGGGGGCCATGCAGGCGCGCTACTCCGTGTCCAGCCCCAACTCCCTGGGAGTGGTGCCCTACCTCGGCGGCGAGCAGAGCTACTACCGCGCGGCGGCCGCGGCGGCCGGGGGCGGCTACACCGCCATGCCGGCCCCCATGAGCGTGTACTCGCACCCTGCGCACGCCGAGCAGTACCCGGGCGGCATGGCCCGCGCCTACGGGCCCTACACGCCGCAGCCGCAGCCCAAGGACATGGTGAAGCCGCCCTATAGCTACATCGCGCTCATCACCATGGCCATCCAGAACGCCCCGGACAAGAAGATCACCCTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGACAACAAGCAGGGCTGGCAGAACAGCATCCGCCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCGCGCGACGACAAGAAGCCGGGCAAGGGCAGCTACTGGACGCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGGCGGCGGCGCTTCAAGAAGAAGGACGCGGTGAAGGACAAGGAGGAGAAGGACAGGCTGCACCTCAAGGAGCCGCCCCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACGCGCCCGGTCCGCAGCCGCCGCCCGTGCGCATCCAGGACATCAAGACCGAGAACGGTACGTGCCCCTCGCCGCCCCAGCCCCTGTCCCCGGCCGCCGCCCTGGGCAGCGGCAGCGCCGCCGCGGTGCCCAAGATCGAGAGCCCCGACAGCAGCAGCAGCAGCCTGTCCAGCGGGAGCAGCCCCCCGGGCAGCCTGCCGTCGGCGCGGCCGCTCAGCCTGGACGGTGCGGATTCCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCGCCGCCGCACCATAGCCAGGGCTTCAGCGTGGACAACATCATGACGTCGCTGCGGGGGTCGCCGCAGAGCGCGGCCGCGGAGCTCAGCTCCGGCCTTCTGGCCTCGGCGGCCGCGTCCTCGCGCGCGGGGATCGCACCCCCGCTGGCGCTCGGCGCCTACTCGCCCGGCCAGAGCTCCCTCTACAGCTCCCCCTGCAGCCAGACCTCCAGCGCGGGCAGCTCGGGCGGCGGCGGCGGCGGCGCGGGGGCCGCGGGGGGCGCGGGCGGCGCCGGGACCTACCACTGCAACCTGCAAGCCATGAGCCTGTACGCGGCCGGCGAGCGCGGGGGCCACTTGCAGGGCGCGCCCGGGGGCGCGGGCGGCTCGGCCGTGGACGACCCCCTGCCCGACTACTCTCTGCCTCCGGTCACCAGCAGCAGCTCGTCGTCCCTGAGTCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCCAGGAGGCCGGCCACCACCCTGCGGCCCACCAAGGCCGCCTCACCTCGTGGTACCTGAACCAGGCGGGCGGAGACCTGGGCCACTTGGCGAGCGCGGCGGCGGCGGCGGCGGCCGCAGGCTACCCGGGCCAGCAGCAGAACTTCCACTCGGTGCGGGAGATGTTCGAGTCACAGAGGATCGGCTTGAACAACTCTCCAGTGAACGGGAATAGTAGCTGTCAAATGGCCTTCCCTTCCAGCCAGTCTCTGTACCGCACGTCCGGAGCTTTCGTCTACGACTGTAGCAAGTTTTGACACACCCTCAAAGCCGAACTAAATCGAACCCCAAAGCAGGAAAAGCTAAAGGAACCCATCAAGGCAAAATCGAAACTAAAAAAAAAAAATCCAATTAAAAAAAACCCCTGAGAATATTCACCACACCAGCGAACAGAATATCCCTCCAAAAATTCAGCTCACCAGCACCAGCACGAAGAAAACTCTATTTTCTTAACCGATTAATTCAGAGCCACCTCCACTTTGCCTTGTCTAAATAAACAAACCCGTAAACTGTTTTATACAGAGACAGCAAAATCTTGGTTTATTAAAGGACAGTGTTACTCCAGATAACACGTAAGTTTCTTCTTGCTTTTCAGAGACCTGCTTTCCCCTCCTCCCGTCTCCCCTCTCTTGCCTTCTTCCTTGCCTCTCACCTGTAAGATATTATTTTATCCTATGTTGAAGGGAGGGGGAAAGTCCCCGTTTATGAAAGTCGCTTTCTTTTTATTCATGGACTTGTTTTAAAATGTAAATTGCAACATAGTAATTTATTTTTAATTTGTAGTTGGATGTCGTGGACCAAACGCCAGAAAGTGTTCCCAAAACCTGACGTTAAATTGCCTGAAACTTTAAATTGTGCTTTTTTTCTCATTATAAAAAGGGAAACTGT
CTCCTTCGTTTCTTTCCCTCATTTCTCTTCTTCCTGTCCCATTCCAACCACCCAGCGACGGCGAATCTCAGGCGTGTGCACAACGAGCGGGGGCCCTTCCGTGCGTGTCCCCCCAGAATCCTTGAACCGCCCTCTAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCCCCCCGGGGAGGGGGGCGAGAAGCAGGGCGGCCCGCAGCGGGGCGGGCTCATCCTTCGCGGGTGAACGGCCGTCGGAAACTCCCAGCAGGGCCCCGCACCCCTTGCCTTCATTTCGGCTGGGGAGGGGTCATGGAGGGGGGCCAGATGGGCGACGAACCTTCTTCCCCACCGCGAGCAGGGCCTGGCTGTGACCGAGCCCTCAAAATCATGTCCTTTGTAGCCGAGTTCAGGACAGGAGAACCTCCAAGTGGAGAAAAGCCGGAGACGTCAGTGACCCGAGTGAGACTGGCGTTGGAGAAGGGAGGGAAGGGGCTGCGGGAGGGGAGAGGCGGCGGGGAGGAGAGGCTGGGGCAACCCCAGCGCTGGCGTCGGCGGGGCTGGCGAAGGAATGAGAGCGAGCCAGCACGAGGCGGGGCGGAGACGCCAGGGCCACTCGGGAGCCGTGGGCGAAGGAAGGGTCTGCACGGGGTCCCGGGAGGACCCAGGAAGTCTGCGCGAACGGCGGGCGTGGGTCCGGAGGGCCCGGGGTGGGAGGTCTGCCGGGCGCCGGCGGCAGGCAGGTGGACTGCGGGGGGCGAACCGACGGCGGGCCGGGCGCCGGCGCGGGCGCAGGGCCGGGGCCCGGGCCAGGGCGGCCGGCGCGCGTGTGGTCAGCCCCGCGGTCCTCCGGCCTCCGGGAGCGGGCCGGCAGGGCTCGGCCTCCGGCTCATTCGGAGGCGGTTCTCACCTCCCATTGGCTGCCGCCGCTGGCGGGGCGGGGCTCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCGCCGGCAGCTCAGGGCAGAGTCTCCTGGAAGGCGCAGGCAGTGTGGCGAGAAGGGCGCCTGCTTGTTCTTTCTTTTTGTCTGCTTTCCCCCGTTTGCGCCTGGAAGCTGCGCCGCGAGTTCCTGCAAGGCGGTCTGCCGCGGCCGGGCCCGGCCTTCTCCCCTCGCAGCGACCCCGCCTCGCGGCCGCGCGGGCCCCGAGGTAGCCCGAGGCGCCGGAGGAGCCAGCCCCAGCGAGCGCCGGGAGAGGCGGCAGCGCAGCCGGACGCACAGCGCAGCGGGCCGGCACCAGCTCGGCCGGGCCCGGACTCGGACTCGGCGGCCGGCGCGGCGCGGCCCGGCCCGAGCGAGGGTGGGGGGCGGCGGGCGGCGCGGGGCGGCGGCGAGCGGGGGCCATGCAGGCGCGCTACTCCGTGTCCAGCCCCAACTCCCTGGGAGTGGTGCCCTACCTCGGCGGCGAGCAGAGCTACTACCGCGCGGCGGCCGCGGCGGCCGGGGGCGGCTACACCGCCATGCCGGCCCCCATGAGCGTGTACTCGCACCCTGCGCACGCCGAGCAGTACCCGGGCGGCATGGCCCGCGCCTACGGGCCCTACACGCCGCAGCCGCAGCCCAAGGACATGGTGAAGCCGCCCTATAGGTACATCGCGCTCATCACCATGGCCATCCAGAACGCCCCGGACAAGAAGATCACCCTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGACAACAAGCAGGGCTGGCAGAACAGCATCCGCCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCGCGCGACGACAAGAAGCCGGGCAAGGGCAGCTACTGGACGCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGGCGGCGGCGCTTCAAGAAGAAGGACGCGGTGAAGGACAAGGAGGAGAAGGACAGGCTGCACCTCAAGGAGCCGCCCCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACGCGCCCGGTCCGCAGCCGCCGCCCGTGCGCATCCAGGACATCAAGACCGAGAACGGTACGTGCCCCTCGCCGCCCCAGCCCCTGTCCCCGGCCGCCGCCCTGGGCAGCGGCAGCGCCGCCGCGGTGCCCAAGATCGAGAGCCCCGACAGCAGCAGCAGCAGCCTGTCCAGCGGGAGCAGCCCCCCGGGCAGCCTGCCGTCGGCGCGGCCGCTCAGCCTGGACGGTGCGGATTCCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCGCCGCCGCACCATAGCCAGGGCTTCAGCGTGGACAACATCATGACGTCGCTGCGGGGGTCGCCGCAGAGCGCGGCCGCGGAGCTCAGCTCCGGCCTTCTGGCCTCGGCGGCCGCGTCCTCGCGCGCGGGGATCGCACCCCCGCTGGCGCTCGGCGCCTACTCGCCCGGCCAGAGCTCCCTCTACAGCTCCCCCTGCAGCCAGACCTCCAGCGCGGGCAGCTCGGGCGGCGGCGGCGGCGGCGCGGGGGCCGCGGGGGGCGCGGGCGGCGCCGGGACCTACCACTGCAACCTGCAAGCCATGAGCCTGTACGCGGCCGGCGAGCGCGGGGGCCACTTGCAGGGCGCGCCCGGGGGCGCGGGCGGCTCGGCCGTGGACGACCCCCTGCCCGACTACTCTCTGCCTCCGGTCACCAGCAGCAGCTCGTCGTCCCTGAGTCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCCAGGAGGCCGGCCACCACCCTGCGGCCCACCAAGGCCGCCTCACCTCGTGGTACCTGAACCAGGCGGGCGGAGACCTGGGCCACTTGGCGAGCGCGGCGGCGGCGGCGGCGGCCGCAGGCTACCCGGGCCAGCAGCAGAACTTCCACTCGGTGCGGGAGATGTTCGAGTCACAGAGGATCGGCTTGAACAACTCTCCAGTGAACGGGAATAGTAGCTGTCAAATGGCCTTCCCTTCCAGCCAGTCTCTGTACCGCACGTCCGGAGCTTTCGTCTACGACTGTAGCAAGTTTTGACACACCCTCAAAGCCGAACTAAATCGAACCCCAAAGCAGGAAAAGCTAAAGGAACCCATCAAGGCAAAATCGAAACTAAAAAAAAAAAATCCAATTAAAAAAAACCCCTGAGAATATTCACCACACCAGCGAACAGAATATCCCTCCAAAAATTCAGCTCACCAGCACCAGCACGAAGAAAACTCTATTTTCTTAACCGATTAATTCAGAGCCACCTCCACTTTGCCTTGTCTAAATAAACAAACCCGTAAACTGTTTTATACAGAGACAGCAAAATCTTGGTTTATTAAAGGACAGTGTTACTCCAGATAACACGTAAGTTTCTTCTTGCTTTTCAGAGACCTGCTTTCCCCTCCTCCCGTCTCCCCTCTCTTGCCTTCTTCCTTGCCTCTCACCTGTAAGATATTATTTTATCCTATGTTGAAGGGAGGGGGAAAGTCCCCGTTTATGAAAGTCGCTTTCTTTTTATTCATGGACTTGTTTTAAAATGTAAATTGCAACATAGTAATTTATTTTTAATTTGTAGTTGGATGTCGTGGACCAAACGCCAGAAAGTGTTCCCAAAACCTGACGTTAAATTGCCTGAAACTTTAAATTGTGCTTTTTTTCTCATTATAAAAAGGGAAACTGT
Task1_train_9936
This alteration occurs within gene FOXC1, LOC129995601 (forkhead box C1| ATAC-STARR-seq lymphoblastoid active region 23864) located on Chromosome 6. Is it associated with a disease or is it a benign variant?
Pathogenic; Axenfeld-Rieger syndrome type 3
TCTTTCCCTCATTTCTCTTCTTCCTGTCCCATTCCAACCACCCAGCGACGGCGAATCTCAGGCGTGTGCACAACGAGCGGGGGCCCTTCCGTGCGTGTCCCCCCAGAATCCTTGAACCGCCCTCTAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCCCCCCGGGGAGGGGGGCGAGAAGCAGGGCGGCCCGCAGCGGGGCGGGCTCATCCTTCGCGGGTGAACGGCCGTCGGAAACTCCCAGCAGGGCCCCGCACCCCTTGCCTTCATTTCGGCTGGGGAGGGGTCATGGAGGGGGGCCAGATGGGCGACGAACCTTCTTCCCCACCGCGAGCAGGGCCTGGCTGTGACCGAGCCCTCAAAATCATGTCCTTTGTAGCCGAGTTCAGGACAGGAGAACCTCCAAGTGGAGAAAAGCCGGAGACGTCAGTGACCCGAGTGAGACTGGCGTTGGAGAAGGGAGGGAAGGGGCTGCGGGAGGGGAGAGGCGGCGGGGAGGAGAGGCTGGGGCAACCCCAGCGCTGGCGTCGGCGGGGCTGGCGAAGGAATGAGAGCGAGCCAGCACGAGGCGGGGCGGAGACGCCAGGGCCACTCGGGAGCCGTGGGCGAAGGAAGGGTCTGCACGGGGTCCCGGGAGGACCCAGGAAGTCTGCGCGAACGGCGGGCGTGGGTCCGGAGGGCCCGGGGTGGGAGGTCTGCCGGGCGCCGGCGGCAGGCAGGTGGACTGCGGGGGGCGAACCGACGGCGGGCCGGGCGCCGGCGCGGGCGCAGGGCCGGGGCCCGGGCCAGGGCGGCCGGCGCGCGTGTGGTCAGCCCCGCGGTCCTCCGGCCTCCGGGAGCGGGCCGGCAGGGCTCGGCCTCCGGCTCATTCGGAGGCGGTTCTCACCTCCCATTGGCTGCCGCCGCTGGCGGGGCGGGGCTCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCGCCGGCAGCTCAGGGCAGAGTCTCCTGGAAGGCGCAGGCAGTGTGGCGAGAAGGGCGCCTGCTTGTTCTTTCTTTTTGTCTGCTTTCCCCCGTTTGCGCCTGGAAGCTGCGCCGCGAGTTCCTGCAAGGCGGTCTGCCGCGGCCGGGCCCGGCCTTCTCCCCTCGCAGCGACCCCGCCTCGCGGCCGCGCGGGCCCCGAGGTAGCCCGAGGCGCCGGAGGAGCCAGCCCCAGCGAGCGCCGGGAGAGGCGGCAGCGCAGCCGGACGCACAGCGCAGCGGGCCGGCACCAGCTCGGCCGGGCCCGGACTCGGACTCGGCGGCCGGCGCGGCGCGGCCCGGCCCGAGCGAGGGTGGGGGGCGGCGGGCGGCGCGGGGCGGCGGCGAGCGGGGGCCATGCAGGCGCGCTACTCCGTGTCCAGCCCCAACTCCCTGGGAGTGGTGCCCTACCTCGGCGGCGAGCAGAGCTACTACCGCGCGGCGGCCGCGGCGGCCGGGGGCGGCTACACCGCCATGCCGGCCCCCATGAGCGTGTACTCGCACCCTGCGCACGCCGAGCAGTACCCGGGCGGCATGGCCCGCGCCTACGGGCCCTACACGCCGCAGCCGCAGCCCAAGGACATGGTGAAGCCGCCCTATAGCTACATCGCGCTCATCACCATGGCCATCCAGAACGCCCCGGACAAGAAGATCACCCTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGACAACAAGCAGGGCTGGCAGAACAGCATCCGCCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCGCGCGACGACAAGAAGCCGGGCAAGGGCAGCTACTGGACGCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGGCGGCGGCGCTTCAAGAAGAAGGACGCGGTGAAGGACAAGGAGGAGAAGGACAGGCTGCACCTCAAGGAGCCGCCCCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACGCGCCCGGTCCGCAGCCGCCGCCCGTGCGCATCCAGGACATCAAGACCGAGAACGGTACGTGCCCCTCGCCGCCCCAGCCCCTGTCCCCGGCCGCCGCCCTGGGCAGCGGCAGCGCCGCCGCGGTGCCCAAGATCGAGAGCCCCGACAGCAGCAGCAGCAGCCTGTCCAGCGGGAGCAGCCCCCCGGGCAGCCTGCCGTCGGCGCGGCCGCTCAGCCTGGACGGTGCGGATTCCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCGCCGCCGCACCATAGCCAGGGCTTCAGCGTGGACAACATCATGACGTCGCTGCGGGGGTCGCCGCAGAGCGCGGCCGCGGAGCTCAGCTCCGGCCTTCTGGCCTCGGCGGCCGCGTCCTCGCGCGCGGGGATCGCACCCCCGCTGGCGCTCGGCGCCTACTCGCCCGGCCAGAGCTCCCTCTACAGCTCCCCCTGCAGCCAGACCTCCAGCGCGGGCAGCTCGGGCGGCGGCGGCGGCGGCGCGGGGGCCGCGGGGGGCGCGGGCGGCGCCGGGACCTACCACTGCAACCTGCAAGCCATGAGCCTGTACGCGGCCGGCGAGCGCGGGGGCCACTTGCAGGGCGCGCCCGGGGGCGCGGGCGGCTCGGCCGTGGACGACCCCCTGCCCGACTACTCTCTGCCTCCGGTCACCAGCAGCAGCTCGTCGTCCCTGAGTCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCCAGGAGGCCGGCCACCACCCTGCGGCCCACCAAGGCCGCCTCACCTCGTGGTACCTGAACCAGGCGGGCGGAGACCTGGGCCACTTGGCGAGCGCGGCGGCGGCGGCGGCGGCCGCAGGCTACCCGGGCCAGCAGCAGAACTTCCACTCGGTGCGGGAGATGTTCGAGTCACAGAGGATCGGCTTGAACAACTCTCCAGTGAACGGGAATAGTAGCTGTCAAATGGCCTTCCCTTCCAGCCAGTCTCTGTACCGCACGTCCGGAGCTTTCGTCTACGACTGTAGCAAGTTTTGACACACCCTCAAAGCCGAACTAAATCGAACCCCAAAGCAGGAAAAGCTAAAGGAACCCATCAAGGCAAAATCGAAACTAAAAAAAAAAAATCCAATTAAAAAAAACCCCTGAGAATATTCACCACACCAGCGAACAGAATATCCCTCCAAAAATTCAGCTCACCAGCACCAGCACGAAGAAAACTCTATTTTCTTAACCGATTAATTCAGAGCCACCTCCACTTTGCCTTGTCTAAATAAACAAACCCGTAAACTGTTTTATACAGAGACAGCAAAATCTTGGTTTATTAAAGGACAGTGTTACTCCAGATAACACGTAAGTTTCTTCTTGCTTTTCAGAGACCTGCTTTCCCCTCCTCCCGTCTCCCCTCTCTTGCCTTCTTCCTTGCCTCTCACCTGTAAGATATTATTTTATCCTATGTTGAAGGGAGGGGGAAAGTCCCCGTTTATGAAAGTCGCTTTCTTTTTATTCATGGACTTGTTTTAAAATGTAAATTGCAACATAGTAATTTATTTTTAATTTGTAGTTGGATGTCGTGGACCAAACGCCAGAAAGTGTTCCCAAAACCTGACGTTAAATTGCCTGAAACTTTAAATTGTGCTTTTTTTCTCATTATAAAAAGGGAAACTGTATTAATCTTA
TCTTTCCCTCATTTCTCTTCTTCCTGTCCCATTCCAACCACCCAGCGACGGCGAATCTCAGGCGTGTGCACAACGAGCGGGGGCCCTTCCGTGCGTGTCCCCCCAGAATCCTTGAACCGCCCTCTAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCCCCCCGGGGAGGGGGGCGAGAAGCAGGGCGGCCCGCAGCGGGGCGGGCTCATCCTTCGCGGGTGAACGGCCGTCGGAAACTCCCAGCAGGGCCCCGCACCCCTTGCCTTCATTTCGGCTGGGGAGGGGTCATGGAGGGGGGCCAGATGGGCGACGAACCTTCTTCCCCACCGCGAGCAGGGCCTGGCTGTGACCGAGCCCTCAAAATCATGTCCTTTGTAGCCGAGTTCAGGACAGGAGAACCTCCAAGTGGAGAAAAGCCGGAGACGTCAGTGACCCGAGTGAGACTGGCGTTGGAGAAGGGAGGGAAGGGGCTGCGGGAGGGGAGAGGCGGCGGGGAGGAGAGGCTGGGGCAACCCCAGCGCTGGCGTCGGCGGGGCTGGCGAAGGAATGAGAGCGAGCCAGCACGAGGCGGGGCGGAGACGCCAGGGCCACTCGGGAGCCGTGGGCGAAGGAAGGGTCTGCACGGGGTCCCGGGAGGACCCAGGAAGTCTGCGCGAACGGCGGGCGTGGGTCCGGAGGGCCCGGGGTGGGAGGTCTGCCGGGCGCCGGCGGCAGGCAGGTGGACTGCGGGGGGCGAACCGACGGCGGGCCGGGCGCCGGCGCGGGCGCAGGGCCGGGGCCCGGGCCAGGGCGGCCGGCGCGCGTGTGGTCAGCCCCGCGGTCCTCCGGCCTCCGGGAGCGGGCCGGCAGGGCTCGGCCTCCGGCTCATTCGGAGGCGGTTCTCACCTCCCATTGGCTGCCGCCGCTGGCGGGGCGGGGCTCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCGCCGGCAGCTCAGGGCAGAGTCTCCTGGAAGGCGCAGGCAGTGTGGCGAGAAGGGCGCCTGCTTGTTCTTTCTTTTTGTCTGCTTTCCCCCGTTTGCGCCTGGAAGCTGCGCCGCGAGTTCCTGCAAGGCGGTCTGCCGCGGCCGGGCCCGGCCTTCTCCCCTCGCAGCGACCCCGCCTCGCGGCCGCGCGGGCCCCGAGGTAGCCCGAGGCGCCGGAGGAGCCAGCCCCAGCGAGCGCCGGGAGAGGCGGCAGCGCAGCCGGACGCACAGCGCAGCGGGCCGGCACCAGCTCGGCCGGGCCCGGACTCGGACTCGGCGGCCGGCGCGGCGCGGCCCGGCCCGAGCGAGGGTGGGGGGCGGCGGGCGGCGCGGGGCGGCGGCGAGCGGGGGCCATGCAGGCGCGCTACTCCGTGTCCAGCCCCAACTCCCTGGGAGTGGTGCCCTACCTCGGCGGCGAGCAGAGCTACTACCGCGCGGCGGCCGCGGCGGCCGGGGGCGGCTACACCGCCATGCCGGCCCCCATGAGCGTGTACTCGCACCCTGCGCACGCCGAGCAGTACCCGGGCGGCATGGCCCGCGCCTACGGGCCCTACACGCCGCAGCCGCAGCCCAAGGACATGGTGAAGCCGCCCTATAGCTACATCGCGTTCATCACCATGGCCATCCAGAACGCCCCGGACAAGAAGATCACCCTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGACAACAAGCAGGGCTGGCAGAACAGCATCCGCCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCGCGCGACGACAAGAAGCCGGGCAAGGGCAGCTACTGGACGCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGGCGGCGGCGCTTCAAGAAGAAGGACGCGGTGAAGGACAAGGAGGAGAAGGACAGGCTGCACCTCAAGGAGCCGCCCCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACGCGCCCGGTCCGCAGCCGCCGCCCGTGCGCATCCAGGACATCAAGACCGAGAACGGTACGTGCCCCTCGCCGCCCCAGCCCCTGTCCCCGGCCGCCGCCCTGGGCAGCGGCAGCGCCGCCGCGGTGCCCAAGATCGAGAGCCCCGACAGCAGCAGCAGCAGCCTGTCCAGCGGGAGCAGCCCCCCGGGCAGCCTGCCGTCGGCGCGGCCGCTCAGCCTGGACGGTGCGGATTCCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCGCCGCCGCACCATAGCCAGGGCTTCAGCGTGGACAACATCATGACGTCGCTGCGGGGGTCGCCGCAGAGCGCGGCCGCGGAGCTCAGCTCCGGCCTTCTGGCCTCGGCGGCCGCGTCCTCGCGCGCGGGGATCGCACCCCCGCTGGCGCTCGGCGCCTACTCGCCCGGCCAGAGCTCCCTCTACAGCTCCCCCTGCAGCCAGACCTCCAGCGCGGGCAGCTCGGGCGGCGGCGGCGGCGGCGCGGGGGCCGCGGGGGGCGCGGGCGGCGCCGGGACCTACCACTGCAACCTGCAAGCCATGAGCCTGTACGCGGCCGGCGAGCGCGGGGGCCACTTGCAGGGCGCGCCCGGGGGCGCGGGCGGCTCGGCCGTGGACGACCCCCTGCCCGACTACTCTCTGCCTCCGGTCACCAGCAGCAGCTCGTCGTCCCTGAGTCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCCAGGAGGCCGGCCACCACCCTGCGGCCCACCAAGGCCGCCTCACCTCGTGGTACCTGAACCAGGCGGGCGGAGACCTGGGCCACTTGGCGAGCGCGGCGGCGGCGGCGGCGGCCGCAGGCTACCCGGGCCAGCAGCAGAACTTCCACTCGGTGCGGGAGATGTTCGAGTCACAGAGGATCGGCTTGAACAACTCTCCAGTGAACGGGAATAGTAGCTGTCAAATGGCCTTCCCTTCCAGCCAGTCTCTGTACCGCACGTCCGGAGCTTTCGTCTACGACTGTAGCAAGTTTTGACACACCCTCAAAGCCGAACTAAATCGAACCCCAAAGCAGGAAAAGCTAAAGGAACCCATCAAGGCAAAATCGAAACTAAAAAAAAAAAATCCAATTAAAAAAAACCCCTGAGAATATTCACCACACCAGCGAACAGAATATCCCTCCAAAAATTCAGCTCACCAGCACCAGCACGAAGAAAACTCTATTTTCTTAACCGATTAATTCAGAGCCACCTCCACTTTGCCTTGTCTAAATAAACAAACCCGTAAACTGTTTTATACAGAGACAGCAAAATCTTGGTTTATTAAAGGACAGTGTTACTCCAGATAACACGTAAGTTTCTTCTTGCTTTTCAGAGACCTGCTTTCCCCTCCTCCCGTCTCCCCTCTCTTGCCTTCTTCCTTGCCTCTCACCTGTAAGATATTATTTTATCCTATGTTGAAGGGAGGGGGAAAGTCCCCGTTTATGAAAGTCGCTTTCTTTTTATTCATGGACTTGTTTTAAAATGTAAATTGCAACATAGTAATTTATTTTTAATTTGTAGTTGGATGTCGTGGACCAAACGCCAGAAAGTGTTCCCAAAACCTGACGTTAAATTGCCTGAAACTTTAAATTGTGCTTTTTTTCTCATTATAAAAAGGGAAACTGTATTAATCTTA
Task1_train_9937
Here’s a variant in FOXC1, LOC129995601 (forkhead box C1| ATAC-STARR-seq lymphoblastoid active region 23864) located on Chromosome 6. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Axenfeld-Rieger syndrome type 3
CTTTCCCTCATTTCTCTTCTTCCTGTCCCATTCCAACCACCCAGCGACGGCGAATCTCAGGCGTGTGCACAACGAGCGGGGGCCCTTCCGTGCGTGTCCCCCCAGAATCCTTGAACCGCCCTCTAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCCCCCCGGGGAGGGGGGCGAGAAGCAGGGCGGCCCGCAGCGGGGCGGGCTCATCCTTCGCGGGTGAACGGCCGTCGGAAACTCCCAGCAGGGCCCCGCACCCCTTGCCTTCATTTCGGCTGGGGAGGGGTCATGGAGGGGGGCCAGATGGGCGACGAACCTTCTTCCCCACCGCGAGCAGGGCCTGGCTGTGACCGAGCCCTCAAAATCATGTCCTTTGTAGCCGAGTTCAGGACAGGAGAACCTCCAAGTGGAGAAAAGCCGGAGACGTCAGTGACCCGAGTGAGACTGGCGTTGGAGAAGGGAGGGAAGGGGCTGCGGGAGGGGAGAGGCGGCGGGGAGGAGAGGCTGGGGCAACCCCAGCGCTGGCGTCGGCGGGGCTGGCGAAGGAATGAGAGCGAGCCAGCACGAGGCGGGGCGGAGACGCCAGGGCCACTCGGGAGCCGTGGGCGAAGGAAGGGTCTGCACGGGGTCCCGGGAGGACCCAGGAAGTCTGCGCGAACGGCGGGCGTGGGTCCGGAGGGCCCGGGGTGGGAGGTCTGCCGGGCGCCGGCGGCAGGCAGGTGGACTGCGGGGGGCGAACCGACGGCGGGCCGGGCGCCGGCGCGGGCGCAGGGCCGGGGCCCGGGCCAGGGCGGCCGGCGCGCGTGTGGTCAGCCCCGCGGTCCTCCGGCCTCCGGGAGCGGGCCGGCAGGGCTCGGCCTCCGGCTCATTCGGAGGCGGTTCTCACCTCCCATTGGCTGCCGCCGCTGGCGGGGCGGGGCTCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCGCCGGCAGCTCAGGGCAGAGTCTCCTGGAAGGCGCAGGCAGTGTGGCGAGAAGGGCGCCTGCTTGTTCTTTCTTTTTGTCTGCTTTCCCCCGTTTGCGCCTGGAAGCTGCGCCGCGAGTTCCTGCAAGGCGGTCTGCCGCGGCCGGGCCCGGCCTTCTCCCCTCGCAGCGACCCCGCCTCGCGGCCGCGCGGGCCCCGAGGTAGCCCGAGGCGCCGGAGGAGCCAGCCCCAGCGAGCGCCGGGAGAGGCGGCAGCGCAGCCGGACGCACAGCGCAGCGGGCCGGCACCAGCTCGGCCGGGCCCGGACTCGGACTCGGCGGCCGGCGCGGCGCGGCCCGGCCCGAGCGAGGGTGGGGGGCGGCGGGCGGCGCGGGGCGGCGGCGAGCGGGGGCCATGCAGGCGCGCTACTCCGTGTCCAGCCCCAACTCCCTGGGAGTGGTGCCCTACCTCGGCGGCGAGCAGAGCTACTACCGCGCGGCGGCCGCGGCGGCCGGGGGCGGCTACACCGCCATGCCGGCCCCCATGAGCGTGTACTCGCACCCTGCGCACGCCGAGCAGTACCCGGGCGGCATGGCCCGCGCCTACGGGCCCTACACGCCGCAGCCGCAGCCCAAGGACATGGTGAAGCCGCCCTATAGCTACATCGCGCTCATCACCATGGCCATCCAGAACGCCCCGGACAAGAAGATCACCCTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGACAACAAGCAGGGCTGGCAGAACAGCATCCGCCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCGCGCGACGACAAGAAGCCGGGCAAGGGCAGCTACTGGACGCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGGCGGCGGCGCTTCAAGAAGAAGGACGCGGTGAAGGACAAGGAGGAGAAGGACAGGCTGCACCTCAAGGAGCCGCCCCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACGCGCCCGGTCCGCAGCCGCCGCCCGTGCGCATCCAGGACATCAAGACCGAGAACGGTACGTGCCCCTCGCCGCCCCAGCCCCTGTCCCCGGCCGCCGCCCTGGGCAGCGGCAGCGCCGCCGCGGTGCCCAAGATCGAGAGCCCCGACAGCAGCAGCAGCAGCCTGTCCAGCGGGAGCAGCCCCCCGGGCAGCCTGCCGTCGGCGCGGCCGCTCAGCCTGGACGGTGCGGATTCCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCGCCGCCGCACCATAGCCAGGGCTTCAGCGTGGACAACATCATGACGTCGCTGCGGGGGTCGCCGCAGAGCGCGGCCGCGGAGCTCAGCTCCGGCCTTCTGGCCTCGGCGGCCGCGTCCTCGCGCGCGGGGATCGCACCCCCGCTGGCGCTCGGCGCCTACTCGCCCGGCCAGAGCTCCCTCTACAGCTCCCCCTGCAGCCAGACCTCCAGCGCGGGCAGCTCGGGCGGCGGCGGCGGCGGCGCGGGGGCCGCGGGGGGCGCGGGCGGCGCCGGGACCTACCACTGCAACCTGCAAGCCATGAGCCTGTACGCGGCCGGCGAGCGCGGGGGCCACTTGCAGGGCGCGCCCGGGGGCGCGGGCGGCTCGGCCGTGGACGACCCCCTGCCCGACTACTCTCTGCCTCCGGTCACCAGCAGCAGCTCGTCGTCCCTGAGTCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCCAGGAGGCCGGCCACCACCCTGCGGCCCACCAAGGCCGCCTCACCTCGTGGTACCTGAACCAGGCGGGCGGAGACCTGGGCCACTTGGCGAGCGCGGCGGCGGCGGCGGCGGCCGCAGGCTACCCGGGCCAGCAGCAGAACTTCCACTCGGTGCGGGAGATGTTCGAGTCACAGAGGATCGGCTTGAACAACTCTCCAGTGAACGGGAATAGTAGCTGTCAAATGGCCTTCCCTTCCAGCCAGTCTCTGTACCGCACGTCCGGAGCTTTCGTCTACGACTGTAGCAAGTTTTGACACACCCTCAAAGCCGAACTAAATCGAACCCCAAAGCAGGAAAAGCTAAAGGAACCCATCAAGGCAAAATCGAAACTAAAAAAAAAAAATCCAATTAAAAAAAACCCCTGAGAATATTCACCACACCAGCGAACAGAATATCCCTCCAAAAATTCAGCTCACCAGCACCAGCACGAAGAAAACTCTATTTTCTTAACCGATTAATTCAGAGCCACCTCCACTTTGCCTTGTCTAAATAAACAAACCCGTAAACTGTTTTATACAGAGACAGCAAAATCTTGGTTTATTAAAGGACAGTGTTACTCCAGATAACACGTAAGTTTCTTCTTGCTTTTCAGAGACCTGCTTTCCCCTCCTCCCGTCTCCCCTCTCTTGCCTTCTTCCTTGCCTCTCACCTGTAAGATATTATTTTATCCTATGTTGAAGGGAGGGGGAAAGTCCCCGTTTATGAAAGTCGCTTTCTTTTTATTCATGGACTTGTTTTAAAATGTAAATTGCAACATAGTAATTTATTTTTAATTTGTAGTTGGATGTCGTGGACCAAACGCCAGAAAGTGTTCCCAAAACCTGACGTTAAATTGCCTGAAACTTTAAATTGTGCTTTTTTTCTCATTATAAAAAGGGAAACTGTATTAATCTTAT
CTTTCCCTCATTTCTCTTCTTCCTGTCCCATTCCAACCACCCAGCGACGGCGAATCTCAGGCGTGTGCACAACGAGCGGGGGCCCTTCCGTGCGTGTCCCCCCAGAATCCTTGAACCGCCCTCTAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCCCCCCGGGGAGGGGGGCGAGAAGCAGGGCGGCCCGCAGCGGGGCGGGCTCATCCTTCGCGGGTGAACGGCCGTCGGAAACTCCCAGCAGGGCCCCGCACCCCTTGCCTTCATTTCGGCTGGGGAGGGGTCATGGAGGGGGGCCAGATGGGCGACGAACCTTCTTCCCCACCGCGAGCAGGGCCTGGCTGTGACCGAGCCCTCAAAATCATGTCCTTTGTAGCCGAGTTCAGGACAGGAGAACCTCCAAGTGGAGAAAAGCCGGAGACGTCAGTGACCCGAGTGAGACTGGCGTTGGAGAAGGGAGGGAAGGGGCTGCGGGAGGGGAGAGGCGGCGGGGAGGAGAGGCTGGGGCAACCCCAGCGCTGGCGTCGGCGGGGCTGGCGAAGGAATGAGAGCGAGCCAGCACGAGGCGGGGCGGAGACGCCAGGGCCACTCGGGAGCCGTGGGCGAAGGAAGGGTCTGCACGGGGTCCCGGGAGGACCCAGGAAGTCTGCGCGAACGGCGGGCGTGGGTCCGGAGGGCCCGGGGTGGGAGGTCTGCCGGGCGCCGGCGGCAGGCAGGTGGACTGCGGGGGGCGAACCGACGGCGGGCCGGGCGCCGGCGCGGGCGCAGGGCCGGGGCCCGGGCCAGGGCGGCCGGCGCGCGTGTGGTCAGCCCCGCGGTCCTCCGGCCTCCGGGAGCGGGCCGGCAGGGCTCGGCCTCCGGCTCATTCGGAGGCGGTTCTCACCTCCCATTGGCTGCCGCCGCTGGCGGGGCGGGGCTCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCGCCGGCAGCTCAGGGCAGAGTCTCCTGGAAGGCGCAGGCAGTGTGGCGAGAAGGGCGCCTGCTTGTTCTTTCTTTTTGTCTGCTTTCCCCCGTTTGCGCCTGGAAGCTGCGCCGCGAGTTCCTGCAAGGCGGTCTGCCGCGGCCGGGCCCGGCCTTCTCCCCTCGCAGCGACCCCGCCTCGCGGCCGCGCGGGCCCCGAGGTAGCCCGAGGCGCCGGAGGAGCCAGCCCCAGCGAGCGCCGGGAGAGGCGGCAGCGCAGCCGGACGCACAGCGCAGCGGGCCGGCACCAGCTCGGCCGGGCCCGGACTCGGACTCGGCGGCCGGCGCGGCGCGGCCCGGCCCGAGCGAGGGTGGGGGGCGGCGGGCGGCGCGGGGCGGCGGCGAGCGGGGGCCATGCAGGCGCGCTACTCCGTGTCCAGCCCCAACTCCCTGGGAGTGGTGCCCTACCTCGGCGGCGAGCAGAGCTACTACCGCGCGGCGGCCGCGGCGGCCGGGGGCGGCTACACCGCCATGCCGGCCCCCATGAGCGTGTACTCGCACCCTGCGCACGCCGAGCAGTACCCGGGCGGCATGGCCCGCGCCTACGGGCCCTACACGCCGCAGCCGCAGCCCAAGGACATGGTGAAGCCGCCCTATAGCTACATCGCGCGCATCACCATGGCCATCCAGAACGCCCCGGACAAGAAGATCACCCTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGACAACAAGCAGGGCTGGCAGAACAGCATCCGCCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCGCGCGACGACAAGAAGCCGGGCAAGGGCAGCTACTGGACGCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGGCGGCGGCGCTTCAAGAAGAAGGACGCGGTGAAGGACAAGGAGGAGAAGGACAGGCTGCACCTCAAGGAGCCGCCCCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACGCGCCCGGTCCGCAGCCGCCGCCCGTGCGCATCCAGGACATCAAGACCGAGAACGGTACGTGCCCCTCGCCGCCCCAGCCCCTGTCCCCGGCCGCCGCCCTGGGCAGCGGCAGCGCCGCCGCGGTGCCCAAGATCGAGAGCCCCGACAGCAGCAGCAGCAGCCTGTCCAGCGGGAGCAGCCCCCCGGGCAGCCTGCCGTCGGCGCGGCCGCTCAGCCTGGACGGTGCGGATTCCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCGCCGCCGCACCATAGCCAGGGCTTCAGCGTGGACAACATCATGACGTCGCTGCGGGGGTCGCCGCAGAGCGCGGCCGCGGAGCTCAGCTCCGGCCTTCTGGCCTCGGCGGCCGCGTCCTCGCGCGCGGGGATCGCACCCCCGCTGGCGCTCGGCGCCTACTCGCCCGGCCAGAGCTCCCTCTACAGCTCCCCCTGCAGCCAGACCTCCAGCGCGGGCAGCTCGGGCGGCGGCGGCGGCGGCGCGGGGGCCGCGGGGGGCGCGGGCGGCGCCGGGACCTACCACTGCAACCTGCAAGCCATGAGCCTGTACGCGGCCGGCGAGCGCGGGGGCCACTTGCAGGGCGCGCCCGGGGGCGCGGGCGGCTCGGCCGTGGACGACCCCCTGCCCGACTACTCTCTGCCTCCGGTCACCAGCAGCAGCTCGTCGTCCCTGAGTCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCCAGGAGGCCGGCCACCACCCTGCGGCCCACCAAGGCCGCCTCACCTCGTGGTACCTGAACCAGGCGGGCGGAGACCTGGGCCACTTGGCGAGCGCGGCGGCGGCGGCGGCGGCCGCAGGCTACCCGGGCCAGCAGCAGAACTTCCACTCGGTGCGGGAGATGTTCGAGTCACAGAGGATCGGCTTGAACAACTCTCCAGTGAACGGGAATAGTAGCTGTCAAATGGCCTTCCCTTCCAGCCAGTCTCTGTACCGCACGTCCGGAGCTTTCGTCTACGACTGTAGCAAGTTTTGACACACCCTCAAAGCCGAACTAAATCGAACCCCAAAGCAGGAAAAGCTAAAGGAACCCATCAAGGCAAAATCGAAACTAAAAAAAAAAAATCCAATTAAAAAAAACCCCTGAGAATATTCACCACACCAGCGAACAGAATATCCCTCCAAAAATTCAGCTCACCAGCACCAGCACGAAGAAAACTCTATTTTCTTAACCGATTAATTCAGAGCCACCTCCACTTTGCCTTGTCTAAATAAACAAACCCGTAAACTGTTTTATACAGAGACAGCAAAATCTTGGTTTATTAAAGGACAGTGTTACTCCAGATAACACGTAAGTTTCTTCTTGCTTTTCAGAGACCTGCTTTCCCCTCCTCCCGTCTCCCCTCTCTTGCCTTCTTCCTTGCCTCTCACCTGTAAGATATTATTTTATCCTATGTTGAAGGGAGGGGGAAAGTCCCCGTTTATGAAAGTCGCTTTCTTTTTATTCATGGACTTGTTTTAAAATGTAAATTGCAACATAGTAATTTATTTTTAATTTGTAGTTGGATGTCGTGGACCAAACGCCAGAAAGTGTTCCCAAAACCTGACGTTAAATTGCCTGAAACTTTAAATTGTGCTTTTTTTCTCATTATAAAAAGGGAAACTGTATTAATCTTAT
Task1_train_9938
This mutation occurs in FOXC1, LOC129995601 (forkhead box C1| ATAC-STARR-seq lymphoblastoid active region 23864) on Chromosome 6. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Anterior segment dysgenesis 3
CCCTCATTTCTCTTCTTCCTGTCCCATTCCAACCACCCAGCGACGGCGAATCTCAGGCGTGTGCACAACGAGCGGGGGCCCTTCCGTGCGTGTCCCCCCAGAATCCTTGAACCGCCCTCTAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCCCCCCGGGGAGGGGGGCGAGAAGCAGGGCGGCCCGCAGCGGGGCGGGCTCATCCTTCGCGGGTGAACGGCCGTCGGAAACTCCCAGCAGGGCCCCGCACCCCTTGCCTTCATTTCGGCTGGGGAGGGGTCATGGAGGGGGGCCAGATGGGCGACGAACCTTCTTCCCCACCGCGAGCAGGGCCTGGCTGTGACCGAGCCCTCAAAATCATGTCCTTTGTAGCCGAGTTCAGGACAGGAGAACCTCCAAGTGGAGAAAAGCCGGAGACGTCAGTGACCCGAGTGAGACTGGCGTTGGAGAAGGGAGGGAAGGGGCTGCGGGAGGGGAGAGGCGGCGGGGAGGAGAGGCTGGGGCAACCCCAGCGCTGGCGTCGGCGGGGCTGGCGAAGGAATGAGAGCGAGCCAGCACGAGGCGGGGCGGAGACGCCAGGGCCACTCGGGAGCCGTGGGCGAAGGAAGGGTCTGCACGGGGTCCCGGGAGGACCCAGGAAGTCTGCGCGAACGGCGGGCGTGGGTCCGGAGGGCCCGGGGTGGGAGGTCTGCCGGGCGCCGGCGGCAGGCAGGTGGACTGCGGGGGGCGAACCGACGGCGGGCCGGGCGCCGGCGCGGGCGCAGGGCCGGGGCCCGGGCCAGGGCGGCCGGCGCGCGTGTGGTCAGCCCCGCGGTCCTCCGGCCTCCGGGAGCGGGCCGGCAGGGCTCGGCCTCCGGCTCATTCGGAGGCGGTTCTCACCTCCCATTGGCTGCCGCCGCTGGCGGGGCGGGGCTCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCGCCGGCAGCTCAGGGCAGAGTCTCCTGGAAGGCGCAGGCAGTGTGGCGAGAAGGGCGCCTGCTTGTTCTTTCTTTTTGTCTGCTTTCCCCCGTTTGCGCCTGGAAGCTGCGCCGCGAGTTCCTGCAAGGCGGTCTGCCGCGGCCGGGCCCGGCCTTCTCCCCTCGCAGCGACCCCGCCTCGCGGCCGCGCGGGCCCCGAGGTAGCCCGAGGCGCCGGAGGAGCCAGCCCCAGCGAGCGCCGGGAGAGGCGGCAGCGCAGCCGGACGCACAGCGCAGCGGGCCGGCACCAGCTCGGCCGGGCCCGGACTCGGACTCGGCGGCCGGCGCGGCGCGGCCCGGCCCGAGCGAGGGTGGGGGGCGGCGGGCGGCGCGGGGCGGCGGCGAGCGGGGGCCATGCAGGCGCGCTACTCCGTGTCCAGCCCCAACTCCCTGGGAGTGGTGCCCTACCTCGGCGGCGAGCAGAGCTACTACCGCGCGGCGGCCGCGGCGGCCGGGGGCGGCTACACCGCCATGCCGGCCCCCATGAGCGTGTACTCGCACCCTGCGCACGCCGAGCAGTACCCGGGCGGCATGGCCCGCGCCTACGGGCCCTACACGCCGCAGCCGCAGCCCAAGGACATGGTGAAGCCGCCCTATAGCTACATCGCGCTCATCACCATGGCCATCCAGAACGCCCCGGACAAGAAGATCACCCTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGACAACAAGCAGGGCTGGCAGAACAGCATCCGCCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCGCGCGACGACAAGAAGCCGGGCAAGGGCAGCTACTGGACGCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGGCGGCGGCGCTTCAAGAAGAAGGACGCGGTGAAGGACAAGGAGGAGAAGGACAGGCTGCACCTCAAGGAGCCGCCCCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACGCGCCCGGTCCGCAGCCGCCGCCCGTGCGCATCCAGGACATCAAGACCGAGAACGGTACGTGCCCCTCGCCGCCCCAGCCCCTGTCCCCGGCCGCCGCCCTGGGCAGCGGCAGCGCCGCCGCGGTGCCCAAGATCGAGAGCCCCGACAGCAGCAGCAGCAGCCTGTCCAGCGGGAGCAGCCCCCCGGGCAGCCTGCCGTCGGCGCGGCCGCTCAGCCTGGACGGTGCGGATTCCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCGCCGCCGCACCATAGCCAGGGCTTCAGCGTGGACAACATCATGACGTCGCTGCGGGGGTCGCCGCAGAGCGCGGCCGCGGAGCTCAGCTCCGGCCTTCTGGCCTCGGCGGCCGCGTCCTCGCGCGCGGGGATCGCACCCCCGCTGGCGCTCGGCGCCTACTCGCCCGGCCAGAGCTCCCTCTACAGCTCCCCCTGCAGCCAGACCTCCAGCGCGGGCAGCTCGGGCGGCGGCGGCGGCGGCGCGGGGGCCGCGGGGGGCGCGGGCGGCGCCGGGACCTACCACTGCAACCTGCAAGCCATGAGCCTGTACGCGGCCGGCGAGCGCGGGGGCCACTTGCAGGGCGCGCCCGGGGGCGCGGGCGGCTCGGCCGTGGACGACCCCCTGCCCGACTACTCTCTGCCTCCGGTCACCAGCAGCAGCTCGTCGTCCCTGAGTCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCCAGGAGGCCGGCCACCACCCTGCGGCCCACCAAGGCCGCCTCACCTCGTGGTACCTGAACCAGGCGGGCGGAGACCTGGGCCACTTGGCGAGCGCGGCGGCGGCGGCGGCGGCCGCAGGCTACCCGGGCCAGCAGCAGAACTTCCACTCGGTGCGGGAGATGTTCGAGTCACAGAGGATCGGCTTGAACAACTCTCCAGTGAACGGGAATAGTAGCTGTCAAATGGCCTTCCCTTCCAGCCAGTCTCTGTACCGCACGTCCGGAGCTTTCGTCTACGACTGTAGCAAGTTTTGACACACCCTCAAAGCCGAACTAAATCGAACCCCAAAGCAGGAAAAGCTAAAGGAACCCATCAAGGCAAAATCGAAACTAAAAAAAAAAAATCCAATTAAAAAAAACCCCTGAGAATATTCACCACACCAGCGAACAGAATATCCCTCCAAAAATTCAGCTCACCAGCACCAGCACGAAGAAAACTCTATTTTCTTAACCGATTAATTCAGAGCCACCTCCACTTTGCCTTGTCTAAATAAACAAACCCGTAAACTGTTTTATACAGAGACAGCAAAATCTTGGTTTATTAAAGGACAGTGTTACTCCAGATAACACGTAAGTTTCTTCTTGCTTTTCAGAGACCTGCTTTCCCCTCCTCCCGTCTCCCCTCTCTTGCCTTCTTCCTTGCCTCTCACCTGTAAGATATTATTTTATCCTATGTTGAAGGGAGGGGGAAAGTCCCCGTTTATGAAAGTCGCTTTCTTTTTATTCATGGACTTGTTTTAAAATGTAAATTGCAACATAGTAATTTATTTTTAATTTGTAGTTGGATGTCGTGGACCAAACGCCAGAAAGTGTTCCCAAAACCTGACGTTAAATTGCCTGAAACTTTAAATTGTGCTTTTTTTCTCATTATAAAAAGGGAAACTGTATTAATCTTATTCTA
CCCTCATTTCTCTTCTTCCTGTCCCATTCCAACCACCCAGCGACGGCGAATCTCAGGCGTGTGCACAACGAGCGGGGGCCCTTCCGTGCGTGTCCCCCCAGAATCCTTGAACCGCCCTCTAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCCCCCCGGGGAGGGGGGCGAGAAGCAGGGCGGCCCGCAGCGGGGCGGGCTCATCCTTCGCGGGTGAACGGCCGTCGGAAACTCCCAGCAGGGCCCCGCACCCCTTGCCTTCATTTCGGCTGGGGAGGGGTCATGGAGGGGGGCCAGATGGGCGACGAACCTTCTTCCCCACCGCGAGCAGGGCCTGGCTGTGACCGAGCCCTCAAAATCATGTCCTTTGTAGCCGAGTTCAGGACAGGAGAACCTCCAAGTGGAGAAAAGCCGGAGACGTCAGTGACCCGAGTGAGACTGGCGTTGGAGAAGGGAGGGAAGGGGCTGCGGGAGGGGAGAGGCGGCGGGGAGGAGAGGCTGGGGCAACCCCAGCGCTGGCGTCGGCGGGGCTGGCGAAGGAATGAGAGCGAGCCAGCACGAGGCGGGGCGGAGACGCCAGGGCCACTCGGGAGCCGTGGGCGAAGGAAGGGTCTGCACGGGGTCCCGGGAGGACCCAGGAAGTCTGCGCGAACGGCGGGCGTGGGTCCGGAGGGCCCGGGGTGGGAGGTCTGCCGGGCGCCGGCGGCAGGCAGGTGGACTGCGGGGGGCGAACCGACGGCGGGCCGGGCGCCGGCGCGGGCGCAGGGCCGGGGCCCGGGCCAGGGCGGCCGGCGCGCGTGTGGTCAGCCCCGCGGTCCTCCGGCCTCCGGGAGCGGGCCGGCAGGGCTCGGCCTCCGGCTCATTCGGAGGCGGTTCTCACCTCCCATTGGCTGCCGCCGCTGGCGGGGCGGGGCTCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCGCCGGCAGCTCAGGGCAGAGTCTCCTGGAAGGCGCAGGCAGTGTGGCGAGAAGGGCGCCTGCTTGTTCTTTCTTTTTGTCTGCTTTCCCCCGTTTGCGCCTGGAAGCTGCGCCGCGAGTTCCTGCAAGGCGGTCTGCCGCGGCCGGGCCCGGCCTTCTCCCCTCGCAGCGACCCCGCCTCGCGGCCGCGCGGGCCCCGAGGTAGCCCGAGGCGCCGGAGGAGCCAGCCCCAGCGAGCGCCGGGAGAGGCGGCAGCGCAGCCGGACGCACAGCGCAGCGGGCCGGCACCAGCTCGGCCGGGCCCGGACTCGGACTCGGCGGCCGGCGCGGCGCGGCCCGGCCCGAGCGAGGGTGGGGGGCGGCGGGCGGCGCGGGGCGGCGGCGAGCGGGGGCCATGCAGGCGCGCTACTCCGTGTCCAGCCCCAACTCCCTGGGAGTGGTGCCCTACCTCGGCGGCGAGCAGAGCTACTACCGCGCGGCGGCCGCGGCGGCCGGGGGCGGCTACACCGCCATGCCGGCCCCCATGAGCGTGTACTCGCACCCTGCGCACGCCGAGCAGTACCCGGGCGGCATGGCCCGCGCCTACGGGCCCTACACGCCGCAGCCGCAGCCCAAGGACATGGTGAAGCCGCCCTATAGCTACATCGCGCTCATGACCATGGCCATCCAGAACGCCCCGGACAAGAAGATCACCCTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGACAACAAGCAGGGCTGGCAGAACAGCATCCGCCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCGCGCGACGACAAGAAGCCGGGCAAGGGCAGCTACTGGACGCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGGCGGCGGCGCTTCAAGAAGAAGGACGCGGTGAAGGACAAGGAGGAGAAGGACAGGCTGCACCTCAAGGAGCCGCCCCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACGCGCCCGGTCCGCAGCCGCCGCCCGTGCGCATCCAGGACATCAAGACCGAGAACGGTACGTGCCCCTCGCCGCCCCAGCCCCTGTCCCCGGCCGCCGCCCTGGGCAGCGGCAGCGCCGCCGCGGTGCCCAAGATCGAGAGCCCCGACAGCAGCAGCAGCAGCCTGTCCAGCGGGAGCAGCCCCCCGGGCAGCCTGCCGTCGGCGCGGCCGCTCAGCCTGGACGGTGCGGATTCCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCGCCGCCGCACCATAGCCAGGGCTTCAGCGTGGACAACATCATGACGTCGCTGCGGGGGTCGCCGCAGAGCGCGGCCGCGGAGCTCAGCTCCGGCCTTCTGGCCTCGGCGGCCGCGTCCTCGCGCGCGGGGATCGCACCCCCGCTGGCGCTCGGCGCCTACTCGCCCGGCCAGAGCTCCCTCTACAGCTCCCCCTGCAGCCAGACCTCCAGCGCGGGCAGCTCGGGCGGCGGCGGCGGCGGCGCGGGGGCCGCGGGGGGCGCGGGCGGCGCCGGGACCTACCACTGCAACCTGCAAGCCATGAGCCTGTACGCGGCCGGCGAGCGCGGGGGCCACTTGCAGGGCGCGCCCGGGGGCGCGGGCGGCTCGGCCGTGGACGACCCCCTGCCCGACTACTCTCTGCCTCCGGTCACCAGCAGCAGCTCGTCGTCCCTGAGTCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCCAGGAGGCCGGCCACCACCCTGCGGCCCACCAAGGCCGCCTCACCTCGTGGTACCTGAACCAGGCGGGCGGAGACCTGGGCCACTTGGCGAGCGCGGCGGCGGCGGCGGCGGCCGCAGGCTACCCGGGCCAGCAGCAGAACTTCCACTCGGTGCGGGAGATGTTCGAGTCACAGAGGATCGGCTTGAACAACTCTCCAGTGAACGGGAATAGTAGCTGTCAAATGGCCTTCCCTTCCAGCCAGTCTCTGTACCGCACGTCCGGAGCTTTCGTCTACGACTGTAGCAAGTTTTGACACACCCTCAAAGCCGAACTAAATCGAACCCCAAAGCAGGAAAAGCTAAAGGAACCCATCAAGGCAAAATCGAAACTAAAAAAAAAAAATCCAATTAAAAAAAACCCCTGAGAATATTCACCACACCAGCGAACAGAATATCCCTCCAAAAATTCAGCTCACCAGCACCAGCACGAAGAAAACTCTATTTTCTTAACCGATTAATTCAGAGCCACCTCCACTTTGCCTTGTCTAAATAAACAAACCCGTAAACTGTTTTATACAGAGACAGCAAAATCTTGGTTTATTAAAGGACAGTGTTACTCCAGATAACACGTAAGTTTCTTCTTGCTTTTCAGAGACCTGCTTTCCCCTCCTCCCGTCTCCCCTCTCTTGCCTTCTTCCTTGCCTCTCACCTGTAAGATATTATTTTATCCTATGTTGAAGGGAGGGGGAAAGTCCCCGTTTATGAAAGTCGCTTTCTTTTTATTCATGGACTTGTTTTAAAATGTAAATTGCAACATAGTAATTTATTTTTAATTTGTAGTTGGATGTCGTGGACCAAACGCCAGAAAGTGTTCCCAAAACCTGACGTTAAATTGCCTGAAACTTTAAATTGTGCTTTTTTTCTCATTATAAAAAGGGAAACTGTATTAATCTTATTCTA
Task1_train_9939
The gene FOXC1 (forkhead box C1), on Chromosome 6, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Axenfeld-Rieger syndrome type 3
GGGGCCCTTCCGTGCGTGTCCCCCCAGAATCCTTGAACCGCCCTCTAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCCCCCCGGGGAGGGGGGCGAGAAGCAGGGCGGCCCGCAGCGGGGCGGGCTCATCCTTCGCGGGTGAACGGCCGTCGGAAACTCCCAGCAGGGCCCCGCACCCCTTGCCTTCATTTCGGCTGGGGAGGGGTCATGGAGGGGGGCCAGATGGGCGACGAACCTTCTTCCCCACCGCGAGCAGGGCCTGGCTGTGACCGAGCCCTCAAAATCATGTCCTTTGTAGCCGAGTTCAGGACAGGAGAACCTCCAAGTGGAGAAAAGCCGGAGACGTCAGTGACCCGAGTGAGACTGGCGTTGGAGAAGGGAGGGAAGGGGCTGCGGGAGGGGAGAGGCGGCGGGGAGGAGAGGCTGGGGCAACCCCAGCGCTGGCGTCGGCGGGGCTGGCGAAGGAATGAGAGCGAGCCAGCACGAGGCGGGGCGGAGACGCCAGGGCCACTCGGGAGCCGTGGGCGAAGGAAGGGTCTGCACGGGGTCCCGGGAGGACCCAGGAAGTCTGCGCGAACGGCGGGCGTGGGTCCGGAGGGCCCGGGGTGGGAGGTCTGCCGGGCGCCGGCGGCAGGCAGGTGGACTGCGGGGGGCGAACCGACGGCGGGCCGGGCGCCGGCGCGGGCGCAGGGCCGGGGCCCGGGCCAGGGCGGCCGGCGCGCGTGTGGTCAGCCCCGCGGTCCTCCGGCCTCCGGGAGCGGGCCGGCAGGGCTCGGCCTCCGGCTCATTCGGAGGCGGTTCTCACCTCCCATTGGCTGCCGCCGCTGGCGGGGCGGGGCTCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCGCCGGCAGCTCAGGGCAGAGTCTCCTGGAAGGCGCAGGCAGTGTGGCGAGAAGGGCGCCTGCTTGTTCTTTCTTTTTGTCTGCTTTCCCCCGTTTGCGCCTGGAAGCTGCGCCGCGAGTTCCTGCAAGGCGGTCTGCCGCGGCCGGGCCCGGCCTTCTCCCCTCGCAGCGACCCCGCCTCGCGGCCGCGCGGGCCCCGAGGTAGCCCGAGGCGCCGGAGGAGCCAGCCCCAGCGAGCGCCGGGAGAGGCGGCAGCGCAGCCGGACGCACAGCGCAGCGGGCCGGCACCAGCTCGGCCGGGCCCGGACTCGGACTCGGCGGCCGGCGCGGCGCGGCCCGGCCCGAGCGAGGGTGGGGGGCGGCGGGCGGCGCGGGGCGGCGGCGAGCGGGGGCCATGCAGGCGCGCTACTCCGTGTCCAGCCCCAACTCCCTGGGAGTGGTGCCCTACCTCGGCGGCGAGCAGAGCTACTACCGCGCGGCGGCCGCGGCGGCCGGGGGCGGCTACACCGCCATGCCGGCCCCCATGAGCGTGTACTCGCACCCTGCGCACGCCGAGCAGTACCCGGGCGGCATGGCCCGCGCCTACGGGCCCTACACGCCGCAGCCGCAGCCCAAGGACATGGTGAAGCCGCCCTATAGCTACATCGCGCTCATCACCATGGCCATCCAGAACGCCCCGGACAAGAAGATCACCCTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGACAACAAGCAGGGCTGGCAGAACAGCATCCGCCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCGCGCGACGACAAGAAGCCGGGCAAGGGCAGCTACTGGACGCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGGCGGCGGCGCTTCAAGAAGAAGGACGCGGTGAAGGACAAGGAGGAGAAGGACAGGCTGCACCTCAAGGAGCCGCCCCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACGCGCCCGGTCCGCAGCCGCCGCCCGTGCGCATCCAGGACATCAAGACCGAGAACGGTACGTGCCCCTCGCCGCCCCAGCCCCTGTCCCCGGCCGCCGCCCTGGGCAGCGGCAGCGCCGCCGCGGTGCCCAAGATCGAGAGCCCCGACAGCAGCAGCAGCAGCCTGTCCAGCGGGAGCAGCCCCCCGGGCAGCCTGCCGTCGGCGCGGCCGCTCAGCCTGGACGGTGCGGATTCCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCGCCGCCGCACCATAGCCAGGGCTTCAGCGTGGACAACATCATGACGTCGCTGCGGGGGTCGCCGCAGAGCGCGGCCGCGGAGCTCAGCTCCGGCCTTCTGGCCTCGGCGGCCGCGTCCTCGCGCGCGGGGATCGCACCCCCGCTGGCGCTCGGCGCCTACTCGCCCGGCCAGAGCTCCCTCTACAGCTCCCCCTGCAGCCAGACCTCCAGCGCGGGCAGCTCGGGCGGCGGCGGCGGCGGCGCGGGGGCCGCGGGGGGCGCGGGCGGCGCCGGGACCTACCACTGCAACCTGCAAGCCATGAGCCTGTACGCGGCCGGCGAGCGCGGGGGCCACTTGCAGGGCGCGCCCGGGGGCGCGGGCGGCTCGGCCGTGGACGACCCCCTGCCCGACTACTCTCTGCCTCCGGTCACCAGCAGCAGCTCGTCGTCCCTGAGTCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCCAGGAGGCCGGCCACCACCCTGCGGCCCACCAAGGCCGCCTCACCTCGTGGTACCTGAACCAGGCGGGCGGAGACCTGGGCCACTTGGCGAGCGCGGCGGCGGCGGCGGCGGCCGCAGGCTACCCGGGCCAGCAGCAGAACTTCCACTCGGTGCGGGAGATGTTCGAGTCACAGAGGATCGGCTTGAACAACTCTCCAGTGAACGGGAATAGTAGCTGTCAAATGGCCTTCCCTTCCAGCCAGTCTCTGTACCGCACGTCCGGAGCTTTCGTCTACGACTGTAGCAAGTTTTGACACACCCTCAAAGCCGAACTAAATCGAACCCCAAAGCAGGAAAAGCTAAAGGAACCCATCAAGGCAAAATCGAAACTAAAAAAAAAAAATCCAATTAAAAAAAACCCCTGAGAATATTCACCACACCAGCGAACAGAATATCCCTCCAAAAATTCAGCTCACCAGCACCAGCACGAAGAAAACTCTATTTTCTTAACCGATTAATTCAGAGCCACCTCCACTTTGCCTTGTCTAAATAAACAAACCCGTAAACTGTTTTATACAGAGACAGCAAAATCTTGGTTTATTAAAGGACAGTGTTACTCCAGATAACACGTAAGTTTCTTCTTGCTTTTCAGAGACCTGCTTTCCCCTCCTCCCGTCTCCCCTCTCTTGCCTTCTTCCTTGCCTCTCACCTGTAAGATATTATTTTATCCTATGTTGAAGGGAGGGGGAAAGTCCCCGTTTATGAAAGTCGCTTTCTTTTTATTCATGGACTTGTTTTAAAATGTAAATTGCAACATAGTAATTTATTTTTAATTTGTAGTTGGATGTCGTGGACCAAACGCCAGAAAGTGTTCCCAAAACCTGACGTTAAATTGCCTGAAACTTTAAATTGTGCTTTTTTTCTCATTATAAAAAGGGAAACTGTATTAATCTTATTCTATCCTCTTTTCTTTCTTTTTGTTGAACATATTCATTGTTTGTTTATTAATAAATTACCATTCAGTTTGAATGAGA
GGGGCCCTTCCGTGCGTGTCCCCCCAGAATCCTTGAACCGCCCTCTAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCCCCCCGGGGAGGGGGGCGAGAAGCAGGGCGGCCCGCAGCGGGGCGGGCTCATCCTTCGCGGGTGAACGGCCGTCGGAAACTCCCAGCAGGGCCCCGCACCCCTTGCCTTCATTTCGGCTGGGGAGGGGTCATGGAGGGGGGCCAGATGGGCGACGAACCTTCTTCCCCACCGCGAGCAGGGCCTGGCTGTGACCGAGCCCTCAAAATCATGTCCTTTGTAGCCGAGTTCAGGACAGGAGAACCTCCAAGTGGAGAAAAGCCGGAGACGTCAGTGACCCGAGTGAGACTGGCGTTGGAGAAGGGAGGGAAGGGGCTGCGGGAGGGGAGAGGCGGCGGGGAGGAGAGGCTGGGGCAACCCCAGCGCTGGCGTCGGCGGGGCTGGCGAAGGAATGAGAGCGAGCCAGCACGAGGCGGGGCGGAGACGCCAGGGCCACTCGGGAGCCGTGGGCGAAGGAAGGGTCTGCACGGGGTCCCGGGAGGACCCAGGAAGTCTGCGCGAACGGCGGGCGTGGGTCCGGAGGGCCCGGGGTGGGAGGTCTGCCGGGCGCCGGCGGCAGGCAGGTGGACTGCGGGGGGCGAACCGACGGCGGGCCGGGCGCCGGCGCGGGCGCAGGGCCGGGGCCCGGGCCAGGGCGGCCGGCGCGCGTGTGGTCAGCCCCGCGGTCCTCCGGCCTCCGGGAGCGGGCCGGCAGGGCTCGGCCTCCGGCTCATTCGGAGGCGGTTCTCACCTCCCATTGGCTGCCGCCGCTGGCGGGGCGGGGCTCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCGCCGGCAGCTCAGGGCAGAGTCTCCTGGAAGGCGCAGGCAGTGTGGCGAGAAGGGCGCCTGCTTGTTCTTTCTTTTTGTCTGCTTTCCCCCGTTTGCGCCTGGAAGCTGCGCCGCGAGTTCCTGCAAGGCGGTCTGCCGCGGCCGGGCCCGGCCTTCTCCCCTCGCAGCGACCCCGCCTCGCGGCCGCGCGGGCCCCGAGGTAGCCCGAGGCGCCGGAGGAGCCAGCCCCAGCGAGCGCCGGGAGAGGCGGCAGCGCAGCCGGACGCACAGCGCAGCGGGCCGGCACCAGCTCGGCCGGGCCCGGACTCGGACTCGGCGGCCGGCGCGGCGCGGCCCGGCCCGAGCGAGGGTGGGGGGCGGCGGGCGGCGCGGGGCGGCGGCGAGCGGGGGCCATGCAGGCGCGCTACTCCGTGTCCAGCCCCAACTCCCTGGGAGTGGTGCCCTACCTCGGCGGCGAGCAGAGCTACTACCGCGCGGCGGCCGCGGCGGCCGGGGGCGGCTACACCGCCATGCCGGCCCCCATGAGCGTGTACTCGCACCCTGCGCACGCCGAGCAGTACCCGGGCGGCATGGCCCGCGCCTACGGGCCCTACACGCCGCAGCCGCAGCCCAAGGACATGGTGAAGCCGCCCTATAGCTACATCGCGCTCATCACCATGGCCATCCAGAACGCCCCGGACAAGAAGATCACCCTGAACGGCATCTACCAGTTCATCATGGACCGCTCCCCCTTCTACCGGGACAACAAGCAGGGCTGGCAGAACAGCATCCGCCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCGCGCGACGACAAGAAGCCGGGCAAGGGCAGCTACTGGACGCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGGCGGCGGCGCTTCAAGAAGAAGGACGCGGTGAAGGACAAGGAGGAGAAGGACAGGCTGCACCTCAAGGAGCCGCCCCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACGCGCCCGGTCCGCAGCCGCCGCCCGTGCGCATCCAGGACATCAAGACCGAGAACGGTACGTGCCCCTCGCCGCCCCAGCCCCTGTCCCCGGCCGCCGCCCTGGGCAGCGGCAGCGCCGCCGCGGTGCCCAAGATCGAGAGCCCCGACAGCAGCAGCAGCAGCCTGTCCAGCGGGAGCAGCCCCCCGGGCAGCCTGCCGTCGGCGCGGCCGCTCAGCCTGGACGGTGCGGATTCCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCGCCGCCGCACCATAGCCAGGGCTTCAGCGTGGACAACATCATGACGTCGCTGCGGGGGTCGCCGCAGAGCGCGGCCGCGGAGCTCAGCTCCGGCCTTCTGGCCTCGGCGGCCGCGTCCTCGCGCGCGGGGATCGCACCCCCGCTGGCGCTCGGCGCCTACTCGCCCGGCCAGAGCTCCCTCTACAGCTCCCCCTGCAGCCAGACCTCCAGCGCGGGCAGCTCGGGCGGCGGCGGCGGCGGCGCGGGGGCCGCGGGGGGCGCGGGCGGCGCCGGGACCTACCACTGCAACCTGCAAGCCATGAGCCTGTACGCGGCCGGCGAGCGCGGGGGCCACTTGCAGGGCGCGCCCGGGGGCGCGGGCGGCTCGGCCGTGGACGACCCCCTGCCCGACTACTCTCTGCCTCCGGTCACCAGCAGCAGCTCGTCGTCCCTGAGTCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCCAGGAGGCCGGCCACCACCCTGCGGCCCACCAAGGCCGCCTCACCTCGTGGTACCTGAACCAGGCGGGCGGAGACCTGGGCCACTTGGCGAGCGCGGCGGCGGCGGCGGCGGCCGCAGGCTACCCGGGCCAGCAGCAGAACTTCCACTCGGTGCGGGAGATGTTCGAGTCACAGAGGATCGGCTTGAACAACTCTCCAGTGAACGGGAATAGTAGCTGTCAAATGGCCTTCCCTTCCAGCCAGTCTCTGTACCGCACGTCCGGAGCTTTCGTCTACGACTGTAGCAAGTTTTGACACACCCTCAAAGCCGAACTAAATCGAACCCCAAAGCAGGAAAAGCTAAAGGAACCCATCAAGGCAAAATCGAAACTAAAAAAAAAAAATCCAATTAAAAAAAACCCCTGAGAATATTCACCACACCAGCGAACAGAATATCCCTCCAAAAATTCAGCTCACCAGCACCAGCACGAAGAAAACTCTATTTTCTTAACCGATTAATTCAGAGCCACCTCCACTTTGCCTTGTCTAAATAAACAAACCCGTAAACTGTTTTATACAGAGACAGCAAAATCTTGGTTTATTAAAGGACAGTGTTACTCCAGATAACACGTAAGTTTCTTCTTGCTTTTCAGAGACCTGCTTTCCCCTCCTCCCGTCTCCCCTCTCTTGCCTTCTTCCTTGCCTCTCACCTGTAAGATATTATTTTATCCTATGTTGAAGGGAGGGGGAAAGTCCCCGTTTATGAAAGTCGCTTTCTTTTTATTCATGGACTTGTTTTAAAATGTAAATTGCAACATAGTAATTTATTTTTAATTTGTAGTTGGATGTCGTGGACCAAACGCCAGAAAGTGTTCCCAAAACCTGACGTTAAATTGCCTGAAACTTTAAATTGTGCTTTTTTTCTCATTATAAAAAGGGAAACTGTATTAATCTTATTCTATCCTCTTTTCTTTCTTTTTGTTGAACATATTCATTGTTTGTTTATTAATAAATTACCATTCAGTTTGAATGAGA
Task1_train_9940
Gene FOXC1 (forkhead box C1) on Chromosome 6 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; not provided
CTCTAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCCCCCCGGGGAGGGGGGCGAGAAGCAGGGCGGCCCGCAGCGGGGCGGGCTCATCCTTCGCGGGTGAACGGCCGTCGGAAACTCCCAGCAGGGCCCCGCACCCCTTGCCTTCATTTCGGCTGGGGAGGGGTCATGGAGGGGGGCCAGATGGGCGACGAACCTTCTTCCCCACCGCGAGCAGGGCCTGGCTGTGACCGAGCCCTCAAAATCATGTCCTTTGTAGCCGAGTTCAGGACAGGAGAACCTCCAAGTGGAGAAAAGCCGGAGACGTCAGTGACCCGAGTGAGACTGGCGTTGGAGAAGGGAGGGAAGGGGCTGCGGGAGGGGAGAGGCGGCGGGGAGGAGAGGCTGGGGCAACCCCAGCGCTGGCGTCGGCGGGGCTGGCGAAGGAATGAGAGCGAGCCAGCACGAGGCGGGGCGGAGACGCCAGGGCCACTCGGGAGCCGTGGGCGAAGGAAGGGTCTGCACGGGGTCCCGGGAGGACCCAGGAAGTCTGCGCGAACGGCGGGCGTGGGTCCGGAGGGCCCGGGGTGGGAGGTCTGCCGGGCGCCGGCGGCAGGCAGGTGGACTGCGGGGGGCGAACCGACGGCGGGCCGGGCGCCGGCGCGGGCGCAGGGCCGGGGCCCGGGCCAGGGCGGCCGGCGCGCGTGTGGTCAGCCCCGCGGTCCTCCGGCCTCCGGGAGCGGGCCGGCAGGGCTCGGCCTCCGGCTCATTCGGAGGCGGTTCTCACCTCCCATTGGCTGCCGCCGCTGGCGGGGCGGGGCTCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCGCCGGCAGCTCAGGGCAGAGTCTCCTGGAAGGCGCAGGCAGTGTGGCGAGAAGGGCGCCTGCTTGTTCTTTCTTTTTGTCTGCTTTCCCCCGTTTGCGCCTGGAAGCTGCGCCGCGAGTTCCTGCAAGGCGGTCTGCCGCGGCCGGGCCCGGCCTTCTCCCCTCGCAGCGACCCCGCCTCGCGGCCGCGCGGGCCCCGAGGTAGCCCGAGGCGCCGGAGGAGCCAGCCCCAGCGAGCGCCGGGAGAGGCGGCAGCGCAGCCGGACGCACAGCGCAGCGGGCCGGCACCAGCTCGGCCGGGCCCGGACTCGGACTCGGCGGCCGGCGCGGCGCGGCCCGGCCCGAGCGAGGGTGGGGGGCGGCGGGCGGCGCGGGGCGGCGGCGAGCGGGGGCCATGCAGGCGCGCTACTCCGTGTCCAGCCCCAACTCCCTGGGAGTGGTGCCCTACCTCGGCGGCGAGCAGAGCTACTACCGCGCGGCGGCCGCGGCGGCCGGGGGCGGCTACACCGCCATGCCGGCCCCCATGAGCGTGTACTCGCACCCTGCGCACGCCGAGCAGTACCCGGGCGGCATGGCCCGCGCCTACGGGCCCTACACGCCGCAGCCGCAGCCCAAGGACATGGTGAAGCCGCCCTATAGCTACATCGCGCTCATCACCATGGCCATCCAGAACGCCCCGGACAAGAAGATCACCCTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGACAACAAGCAGGGCTGGCAGAACAGCATCCGCCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCGCGCGACGACAAGAAGCCGGGCAAGGGCAGCTACTGGACGCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGGCGGCGGCGCTTCAAGAAGAAGGACGCGGTGAAGGACAAGGAGGAGAAGGACAGGCTGCACCTCAAGGAGCCGCCCCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACGCGCCCGGTCCGCAGCCGCCGCCCGTGCGCATCCAGGACATCAAGACCGAGAACGGTACGTGCCCCTCGCCGCCCCAGCCCCTGTCCCCGGCCGCCGCCCTGGGCAGCGGCAGCGCCGCCGCGGTGCCCAAGATCGAGAGCCCCGACAGCAGCAGCAGCAGCCTGTCCAGCGGGAGCAGCCCCCCGGGCAGCCTGCCGTCGGCGCGGCCGCTCAGCCTGGACGGTGCGGATTCCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCGCCGCCGCACCATAGCCAGGGCTTCAGCGTGGACAACATCATGACGTCGCTGCGGGGGTCGCCGCAGAGCGCGGCCGCGGAGCTCAGCTCCGGCCTTCTGGCCTCGGCGGCCGCGTCCTCGCGCGCGGGGATCGCACCCCCGCTGGCGCTCGGCGCCTACTCGCCCGGCCAGAGCTCCCTCTACAGCTCCCCCTGCAGCCAGACCTCCAGCGCGGGCAGCTCGGGCGGCGGCGGCGGCGGCGCGGGGGCCGCGGGGGGCGCGGGCGGCGCCGGGACCTACCACTGCAACCTGCAAGCCATGAGCCTGTACGCGGCCGGCGAGCGCGGGGGCCACTTGCAGGGCGCGCCCGGGGGCGCGGGCGGCTCGGCCGTGGACGACCCCCTGCCCGACTACTCTCTGCCTCCGGTCACCAGCAGCAGCTCGTCGTCCCTGAGTCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCCAGGAGGCCGGCCACCACCCTGCGGCCCACCAAGGCCGCCTCACCTCGTGGTACCTGAACCAGGCGGGCGGAGACCTGGGCCACTTGGCGAGCGCGGCGGCGGCGGCGGCGGCCGCAGGCTACCCGGGCCAGCAGCAGAACTTCCACTCGGTGCGGGAGATGTTCGAGTCACAGAGGATCGGCTTGAACAACTCTCCAGTGAACGGGAATAGTAGCTGTCAAATGGCCTTCCCTTCCAGCCAGTCTCTGTACCGCACGTCCGGAGCTTTCGTCTACGACTGTAGCAAGTTTTGACACACCCTCAAAGCCGAACTAAATCGAACCCCAAAGCAGGAAAAGCTAAAGGAACCCATCAAGGCAAAATCGAAACTAAAAAAAAAAAATCCAATTAAAAAAAACCCCTGAGAATATTCACCACACCAGCGAACAGAATATCCCTCCAAAAATTCAGCTCACCAGCACCAGCACGAAGAAAACTCTATTTTCTTAACCGATTAATTCAGAGCCACCTCCACTTTGCCTTGTCTAAATAAACAAACCCGTAAACTGTTTTATACAGAGACAGCAAAATCTTGGTTTATTAAAGGACAGTGTTACTCCAGATAACACGTAAGTTTCTTCTTGCTTTTCAGAGACCTGCTTTCCCCTCCTCCCGTCTCCCCTCTCTTGCCTTCTTCCTTGCCTCTCACCTGTAAGATATTATTTTATCCTATGTTGAAGGGAGGGGGAAAGTCCCCGTTTATGAAAGTCGCTTTCTTTTTATTCATGGACTTGTTTTAAAATGTAAATTGCAACATAGTAATTTATTTTTAATTTGTAGTTGGATGTCGTGGACCAAACGCCAGAAAGTGTTCCCAAAACCTGACGTTAAATTGCCTGAAACTTTAAATTGTGCTTTTTTTCTCATTATAAAAAGGGAAACTGTATTAATCTTATTCTATCCTCTTTTCTTTCTTTTTGTTGAACATATTCATTGTTTGTTTATTAATAAATTACCATTCAGTTTGAATGAGACCTATATGTCTGGATACTTTAATAGAGCTTTAATTATTACGA
CTCTAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCCCCCCGGGGAGGGGGGCGAGAAGCAGGGCGGCCCGCAGCGGGGCGGGCTCATCCTTCGCGGGTGAACGGCCGTCGGAAACTCCCAGCAGGGCCCCGCACCCCTTGCCTTCATTTCGGCTGGGGAGGGGTCATGGAGGGGGGCCAGATGGGCGACGAACCTTCTTCCCCACCGCGAGCAGGGCCTGGCTGTGACCGAGCCCTCAAAATCATGTCCTTTGTAGCCGAGTTCAGGACAGGAGAACCTCCAAGTGGAGAAAAGCCGGAGACGTCAGTGACCCGAGTGAGACTGGCGTTGGAGAAGGGAGGGAAGGGGCTGCGGGAGGGGAGAGGCGGCGGGGAGGAGAGGCTGGGGCAACCCCAGCGCTGGCGTCGGCGGGGCTGGCGAAGGAATGAGAGCGAGCCAGCACGAGGCGGGGCGGAGACGCCAGGGCCACTCGGGAGCCGTGGGCGAAGGAAGGGTCTGCACGGGGTCCCGGGAGGACCCAGGAAGTCTGCGCGAACGGCGGGCGTGGGTCCGGAGGGCCCGGGGTGGGAGGTCTGCCGGGCGCCGGCGGCAGGCAGGTGGACTGCGGGGGGCGAACCGACGGCGGGCCGGGCGCCGGCGCGGGCGCAGGGCCGGGGCCCGGGCCAGGGCGGCCGGCGCGCGTGTGGTCAGCCCCGCGGTCCTCCGGCCTCCGGGAGCGGGCCGGCAGGGCTCGGCCTCCGGCTCATTCGGAGGCGGTTCTCACCTCCCATTGGCTGCCGCCGCTGGCGGGGCGGGGCTCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCGCCGGCAGCTCAGGGCAGAGTCTCCTGGAAGGCGCAGGCAGTGTGGCGAGAAGGGCGCCTGCTTGTTCTTTCTTTTTGTCTGCTTTCCCCCGTTTGCGCCTGGAAGCTGCGCCGCGAGTTCCTGCAAGGCGGTCTGCCGCGGCCGGGCCCGGCCTTCTCCCCTCGCAGCGACCCCGCCTCGCGGCCGCGCGGGCCCCGAGGTAGCCCGAGGCGCCGGAGGAGCCAGCCCCAGCGAGCGCCGGGAGAGGCGGCAGCGCAGCCGGACGCACAGCGCAGCGGGCCGGCACCAGCTCGGCCGGGCCCGGACTCGGACTCGGCGGCCGGCGCGGCGCGGCCCGGCCCGAGCGAGGGTGGGGGGCGGCGGGCGGCGCGGGGCGGCGGCGAGCGGGGGCCATGCAGGCGCGCTACTCCGTGTCCAGCCCCAACTCCCTGGGAGTGGTGCCCTACCTCGGCGGCGAGCAGAGCTACTACCGCGCGGCGGCCGCGGCGGCCGGGGGCGGCTACACCGCCATGCCGGCCCCCATGAGCGTGTACTCGCACCCTGCGCACGCCGAGCAGTACCCGGGCGGCATGGCCCGCGCCTACGGGCCCTACACGCCGCAGCCGCAGCCCAAGGACATGGTGAAGCCGCCCTATAGCTACATCGCGCTCATCACCATGGCCATCCAGAACGCCCCGGACAAGAAGATCACCCTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGACAACAAGCAGGGCTGGCAGAACAGCAGCCGCCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCGCGCGACGACAAGAAGCCGGGCAAGGGCAGCTACTGGACGCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGGCGGCGGCGCTTCAAGAAGAAGGACGCGGTGAAGGACAAGGAGGAGAAGGACAGGCTGCACCTCAAGGAGCCGCCCCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACGCGCCCGGTCCGCAGCCGCCGCCCGTGCGCATCCAGGACATCAAGACCGAGAACGGTACGTGCCCCTCGCCGCCCCAGCCCCTGTCCCCGGCCGCCGCCCTGGGCAGCGGCAGCGCCGCCGCGGTGCCCAAGATCGAGAGCCCCGACAGCAGCAGCAGCAGCCTGTCCAGCGGGAGCAGCCCCCCGGGCAGCCTGCCGTCGGCGCGGCCGCTCAGCCTGGACGGTGCGGATTCCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCGCCGCCGCACCATAGCCAGGGCTTCAGCGTGGACAACATCATGACGTCGCTGCGGGGGTCGCCGCAGAGCGCGGCCGCGGAGCTCAGCTCCGGCCTTCTGGCCTCGGCGGCCGCGTCCTCGCGCGCGGGGATCGCACCCCCGCTGGCGCTCGGCGCCTACTCGCCCGGCCAGAGCTCCCTCTACAGCTCCCCCTGCAGCCAGACCTCCAGCGCGGGCAGCTCGGGCGGCGGCGGCGGCGGCGCGGGGGCCGCGGGGGGCGCGGGCGGCGCCGGGACCTACCACTGCAACCTGCAAGCCATGAGCCTGTACGCGGCCGGCGAGCGCGGGGGCCACTTGCAGGGCGCGCCCGGGGGCGCGGGCGGCTCGGCCGTGGACGACCCCCTGCCCGACTACTCTCTGCCTCCGGTCACCAGCAGCAGCTCGTCGTCCCTGAGTCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCCAGGAGGCCGGCCACCACCCTGCGGCCCACCAAGGCCGCCTCACCTCGTGGTACCTGAACCAGGCGGGCGGAGACCTGGGCCACTTGGCGAGCGCGGCGGCGGCGGCGGCGGCCGCAGGCTACCCGGGCCAGCAGCAGAACTTCCACTCGGTGCGGGAGATGTTCGAGTCACAGAGGATCGGCTTGAACAACTCTCCAGTGAACGGGAATAGTAGCTGTCAAATGGCCTTCCCTTCCAGCCAGTCTCTGTACCGCACGTCCGGAGCTTTCGTCTACGACTGTAGCAAGTTTTGACACACCCTCAAAGCCGAACTAAATCGAACCCCAAAGCAGGAAAAGCTAAAGGAACCCATCAAGGCAAAATCGAAACTAAAAAAAAAAAATCCAATTAAAAAAAACCCCTGAGAATATTCACCACACCAGCGAACAGAATATCCCTCCAAAAATTCAGCTCACCAGCACCAGCACGAAGAAAACTCTATTTTCTTAACCGATTAATTCAGAGCCACCTCCACTTTGCCTTGTCTAAATAAACAAACCCGTAAACTGTTTTATACAGAGACAGCAAAATCTTGGTTTATTAAAGGACAGTGTTACTCCAGATAACACGTAAGTTTCTTCTTGCTTTTCAGAGACCTGCTTTCCCCTCCTCCCGTCTCCCCTCTCTTGCCTTCTTCCTTGCCTCTCACCTGTAAGATATTATTTTATCCTATGTTGAAGGGAGGGGGAAAGTCCCCGTTTATGAAAGTCGCTTTCTTTTTATTCATGGACTTGTTTTAAAATGTAAATTGCAACATAGTAATTTATTTTTAATTTGTAGTTGGATGTCGTGGACCAAACGCCAGAAAGTGTTCCCAAAACCTGACGTTAAATTGCCTGAAACTTTAAATTGTGCTTTTTTTCTCATTATAAAAAGGGAAACTGTATTAATCTTATTCTATCCTCTTTTCTTTCTTTTTGTTGAACATATTCATTGTTTGTTTATTAATAAATTACCATTCAGTTTGAATGAGACCTATATGTCTGGATACTTTAATAGAGCTTTAATTATTACGA
Task1_train_9941
This variant lies on Chromosome 6 and affects the gene FOXC1 (forkhead box C1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Anterior segment dysgenesis 3
TCTAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCCCCCCGGGGAGGGGGGCGAGAAGCAGGGCGGCCCGCAGCGGGGCGGGCTCATCCTTCGCGGGTGAACGGCCGTCGGAAACTCCCAGCAGGGCCCCGCACCCCTTGCCTTCATTTCGGCTGGGGAGGGGTCATGGAGGGGGGCCAGATGGGCGACGAACCTTCTTCCCCACCGCGAGCAGGGCCTGGCTGTGACCGAGCCCTCAAAATCATGTCCTTTGTAGCCGAGTTCAGGACAGGAGAACCTCCAAGTGGAGAAAAGCCGGAGACGTCAGTGACCCGAGTGAGACTGGCGTTGGAGAAGGGAGGGAAGGGGCTGCGGGAGGGGAGAGGCGGCGGGGAGGAGAGGCTGGGGCAACCCCAGCGCTGGCGTCGGCGGGGCTGGCGAAGGAATGAGAGCGAGCCAGCACGAGGCGGGGCGGAGACGCCAGGGCCACTCGGGAGCCGTGGGCGAAGGAAGGGTCTGCACGGGGTCCCGGGAGGACCCAGGAAGTCTGCGCGAACGGCGGGCGTGGGTCCGGAGGGCCCGGGGTGGGAGGTCTGCCGGGCGCCGGCGGCAGGCAGGTGGACTGCGGGGGGCGAACCGACGGCGGGCCGGGCGCCGGCGCGGGCGCAGGGCCGGGGCCCGGGCCAGGGCGGCCGGCGCGCGTGTGGTCAGCCCCGCGGTCCTCCGGCCTCCGGGAGCGGGCCGGCAGGGCTCGGCCTCCGGCTCATTCGGAGGCGGTTCTCACCTCCCATTGGCTGCCGCCGCTGGCGGGGCGGGGCTCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCGCCGGCAGCTCAGGGCAGAGTCTCCTGGAAGGCGCAGGCAGTGTGGCGAGAAGGGCGCCTGCTTGTTCTTTCTTTTTGTCTGCTTTCCCCCGTTTGCGCCTGGAAGCTGCGCCGCGAGTTCCTGCAAGGCGGTCTGCCGCGGCCGGGCCCGGCCTTCTCCCCTCGCAGCGACCCCGCCTCGCGGCCGCGCGGGCCCCGAGGTAGCCCGAGGCGCCGGAGGAGCCAGCCCCAGCGAGCGCCGGGAGAGGCGGCAGCGCAGCCGGACGCACAGCGCAGCGGGCCGGCACCAGCTCGGCCGGGCCCGGACTCGGACTCGGCGGCCGGCGCGGCGCGGCCCGGCCCGAGCGAGGGTGGGGGGCGGCGGGCGGCGCGGGGCGGCGGCGAGCGGGGGCCATGCAGGCGCGCTACTCCGTGTCCAGCCCCAACTCCCTGGGAGTGGTGCCCTACCTCGGCGGCGAGCAGAGCTACTACCGCGCGGCGGCCGCGGCGGCCGGGGGCGGCTACACCGCCATGCCGGCCCCCATGAGCGTGTACTCGCACCCTGCGCACGCCGAGCAGTACCCGGGCGGCATGGCCCGCGCCTACGGGCCCTACACGCCGCAGCCGCAGCCCAAGGACATGGTGAAGCCGCCCTATAGCTACATCGCGCTCATCACCATGGCCATCCAGAACGCCCCGGACAAGAAGATCACCCTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGACAACAAGCAGGGCTGGCAGAACAGCATCCGCCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCGCGCGACGACAAGAAGCCGGGCAAGGGCAGCTACTGGACGCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGGCGGCGGCGCTTCAAGAAGAAGGACGCGGTGAAGGACAAGGAGGAGAAGGACAGGCTGCACCTCAAGGAGCCGCCCCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACGCGCCCGGTCCGCAGCCGCCGCCCGTGCGCATCCAGGACATCAAGACCGAGAACGGTACGTGCCCCTCGCCGCCCCAGCCCCTGTCCCCGGCCGCCGCCCTGGGCAGCGGCAGCGCCGCCGCGGTGCCCAAGATCGAGAGCCCCGACAGCAGCAGCAGCAGCCTGTCCAGCGGGAGCAGCCCCCCGGGCAGCCTGCCGTCGGCGCGGCCGCTCAGCCTGGACGGTGCGGATTCCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCGCCGCCGCACCATAGCCAGGGCTTCAGCGTGGACAACATCATGACGTCGCTGCGGGGGTCGCCGCAGAGCGCGGCCGCGGAGCTCAGCTCCGGCCTTCTGGCCTCGGCGGCCGCGTCCTCGCGCGCGGGGATCGCACCCCCGCTGGCGCTCGGCGCCTACTCGCCCGGCCAGAGCTCCCTCTACAGCTCCCCCTGCAGCCAGACCTCCAGCGCGGGCAGCTCGGGCGGCGGCGGCGGCGGCGCGGGGGCCGCGGGGGGCGCGGGCGGCGCCGGGACCTACCACTGCAACCTGCAAGCCATGAGCCTGTACGCGGCCGGCGAGCGCGGGGGCCACTTGCAGGGCGCGCCCGGGGGCGCGGGCGGCTCGGCCGTGGACGACCCCCTGCCCGACTACTCTCTGCCTCCGGTCACCAGCAGCAGCTCGTCGTCCCTGAGTCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCCAGGAGGCCGGCCACCACCCTGCGGCCCACCAAGGCCGCCTCACCTCGTGGTACCTGAACCAGGCGGGCGGAGACCTGGGCCACTTGGCGAGCGCGGCGGCGGCGGCGGCGGCCGCAGGCTACCCGGGCCAGCAGCAGAACTTCCACTCGGTGCGGGAGATGTTCGAGTCACAGAGGATCGGCTTGAACAACTCTCCAGTGAACGGGAATAGTAGCTGTCAAATGGCCTTCCCTTCCAGCCAGTCTCTGTACCGCACGTCCGGAGCTTTCGTCTACGACTGTAGCAAGTTTTGACACACCCTCAAAGCCGAACTAAATCGAACCCCAAAGCAGGAAAAGCTAAAGGAACCCATCAAGGCAAAATCGAAACTAAAAAAAAAAAATCCAATTAAAAAAAACCCCTGAGAATATTCACCACACCAGCGAACAGAATATCCCTCCAAAAATTCAGCTCACCAGCACCAGCACGAAGAAAACTCTATTTTCTTAACCGATTAATTCAGAGCCACCTCCACTTTGCCTTGTCTAAATAAACAAACCCGTAAACTGTTTTATACAGAGACAGCAAAATCTTGGTTTATTAAAGGACAGTGTTACTCCAGATAACACGTAAGTTTCTTCTTGCTTTTCAGAGACCTGCTTTCCCCTCCTCCCGTCTCCCCTCTCTTGCCTTCTTCCTTGCCTCTCACCTGTAAGATATTATTTTATCCTATGTTGAAGGGAGGGGGAAAGTCCCCGTTTATGAAAGTCGCTTTCTTTTTATTCATGGACTTGTTTTAAAATGTAAATTGCAACATAGTAATTTATTTTTAATTTGTAGTTGGATGTCGTGGACCAAACGCCAGAAAGTGTTCCCAAAACCTGACGTTAAATTGCCTGAAACTTTAAATTGTGCTTTTTTTCTCATTATAAAAAGGGAAACTGTATTAATCTTATTCTATCCTCTTTTCTTTCTTTTTGTTGAACATATTCATTGTTTGTTTATTAATAAATTACCATTCAGTTTGAATGAGACCTATATGTCTGGATACTTTAATAGAGCTTTAATTATTACGAA
TCTAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCCCCCCGGGGAGGGGGGCGAGAAGCAGGGCGGCCCGCAGCGGGGCGGGCTCATCCTTCGCGGGTGAACGGCCGTCGGAAACTCCCAGCAGGGCCCCGCACCCCTTGCCTTCATTTCGGCTGGGGAGGGGTCATGGAGGGGGGCCAGATGGGCGACGAACCTTCTTCCCCACCGCGAGCAGGGCCTGGCTGTGACCGAGCCCTCAAAATCATGTCCTTTGTAGCCGAGTTCAGGACAGGAGAACCTCCAAGTGGAGAAAAGCCGGAGACGTCAGTGACCCGAGTGAGACTGGCGTTGGAGAAGGGAGGGAAGGGGCTGCGGGAGGGGAGAGGCGGCGGGGAGGAGAGGCTGGGGCAACCCCAGCGCTGGCGTCGGCGGGGCTGGCGAAGGAATGAGAGCGAGCCAGCACGAGGCGGGGCGGAGACGCCAGGGCCACTCGGGAGCCGTGGGCGAAGGAAGGGTCTGCACGGGGTCCCGGGAGGACCCAGGAAGTCTGCGCGAACGGCGGGCGTGGGTCCGGAGGGCCCGGGGTGGGAGGTCTGCCGGGCGCCGGCGGCAGGCAGGTGGACTGCGGGGGGCGAACCGACGGCGGGCCGGGCGCCGGCGCGGGCGCAGGGCCGGGGCCCGGGCCAGGGCGGCCGGCGCGCGTGTGGTCAGCCCCGCGGTCCTCCGGCCTCCGGGAGCGGGCCGGCAGGGCTCGGCCTCCGGCTCATTCGGAGGCGGTTCTCACCTCCCATTGGCTGCCGCCGCTGGCGGGGCGGGGCTCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCGCCGGCAGCTCAGGGCAGAGTCTCCTGGAAGGCGCAGGCAGTGTGGCGAGAAGGGCGCCTGCTTGTTCTTTCTTTTTGTCTGCTTTCCCCCGTTTGCGCCTGGAAGCTGCGCCGCGAGTTCCTGCAAGGCGGTCTGCCGCGGCCGGGCCCGGCCTTCTCCCCTCGCAGCGACCCCGCCTCGCGGCCGCGCGGGCCCCGAGGTAGCCCGAGGCGCCGGAGGAGCCAGCCCCAGCGAGCGCCGGGAGAGGCGGCAGCGCAGCCGGACGCACAGCGCAGCGGGCCGGCACCAGCTCGGCCGGGCCCGGACTCGGACTCGGCGGCCGGCGCGGCGCGGCCCGGCCCGAGCGAGGGTGGGGGGCGGCGGGCGGCGCGGGGCGGCGGCGAGCGGGGGCCATGCAGGCGCGCTACTCCGTGTCCAGCCCCAACTCCCTGGGAGTGGTGCCCTACCTCGGCGGCGAGCAGAGCTACTACCGCGCGGCGGCCGCGGCGGCCGGGGGCGGCTACACCGCCATGCCGGCCCCCATGAGCGTGTACTCGCACCCTGCGCACGCCGAGCAGTACCCGGGCGGCATGGCCCGCGCCTACGGGCCCTACACGCCGCAGCCGCAGCCCAAGGACATGGTGAAGCCGCCCTATAGCTACATCGCGCTCATCACCATGGCCATCCAGAACGCCCCGGACAAGAAGATCACCCTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGACAACAAGCAGGGCTGGCAGAACAGCATGCGCCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCGCGCGACGACAAGAAGCCGGGCAAGGGCAGCTACTGGACGCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGGCGGCGGCGCTTCAAGAAGAAGGACGCGGTGAAGGACAAGGAGGAGAAGGACAGGCTGCACCTCAAGGAGCCGCCCCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACGCGCCCGGTCCGCAGCCGCCGCCCGTGCGCATCCAGGACATCAAGACCGAGAACGGTACGTGCCCCTCGCCGCCCCAGCCCCTGTCCCCGGCCGCCGCCCTGGGCAGCGGCAGCGCCGCCGCGGTGCCCAAGATCGAGAGCCCCGACAGCAGCAGCAGCAGCCTGTCCAGCGGGAGCAGCCCCCCGGGCAGCCTGCCGTCGGCGCGGCCGCTCAGCCTGGACGGTGCGGATTCCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCGCCGCCGCACCATAGCCAGGGCTTCAGCGTGGACAACATCATGACGTCGCTGCGGGGGTCGCCGCAGAGCGCGGCCGCGGAGCTCAGCTCCGGCCTTCTGGCCTCGGCGGCCGCGTCCTCGCGCGCGGGGATCGCACCCCCGCTGGCGCTCGGCGCCTACTCGCCCGGCCAGAGCTCCCTCTACAGCTCCCCCTGCAGCCAGACCTCCAGCGCGGGCAGCTCGGGCGGCGGCGGCGGCGGCGCGGGGGCCGCGGGGGGCGCGGGCGGCGCCGGGACCTACCACTGCAACCTGCAAGCCATGAGCCTGTACGCGGCCGGCGAGCGCGGGGGCCACTTGCAGGGCGCGCCCGGGGGCGCGGGCGGCTCGGCCGTGGACGACCCCCTGCCCGACTACTCTCTGCCTCCGGTCACCAGCAGCAGCTCGTCGTCCCTGAGTCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCCAGGAGGCCGGCCACCACCCTGCGGCCCACCAAGGCCGCCTCACCTCGTGGTACCTGAACCAGGCGGGCGGAGACCTGGGCCACTTGGCGAGCGCGGCGGCGGCGGCGGCGGCCGCAGGCTACCCGGGCCAGCAGCAGAACTTCCACTCGGTGCGGGAGATGTTCGAGTCACAGAGGATCGGCTTGAACAACTCTCCAGTGAACGGGAATAGTAGCTGTCAAATGGCCTTCCCTTCCAGCCAGTCTCTGTACCGCACGTCCGGAGCTTTCGTCTACGACTGTAGCAAGTTTTGACACACCCTCAAAGCCGAACTAAATCGAACCCCAAAGCAGGAAAAGCTAAAGGAACCCATCAAGGCAAAATCGAAACTAAAAAAAAAAAATCCAATTAAAAAAAACCCCTGAGAATATTCACCACACCAGCGAACAGAATATCCCTCCAAAAATTCAGCTCACCAGCACCAGCACGAAGAAAACTCTATTTTCTTAACCGATTAATTCAGAGCCACCTCCACTTTGCCTTGTCTAAATAAACAAACCCGTAAACTGTTTTATACAGAGACAGCAAAATCTTGGTTTATTAAAGGACAGTGTTACTCCAGATAACACGTAAGTTTCTTCTTGCTTTTCAGAGACCTGCTTTCCCCTCCTCCCGTCTCCCCTCTCTTGCCTTCTTCCTTGCCTCTCACCTGTAAGATATTATTTTATCCTATGTTGAAGGGAGGGGGAAAGTCCCCGTTTATGAAAGTCGCTTTCTTTTTATTCATGGACTTGTTTTAAAATGTAAATTGCAACATAGTAATTTATTTTTAATTTGTAGTTGGATGTCGTGGACCAAACGCCAGAAAGTGTTCCCAAAACCTGACGTTAAATTGCCTGAAACTTTAAATTGTGCTTTTTTTCTCATTATAAAAAGGGAAACTGTATTAATCTTATTCTATCCTCTTTTCTTTCTTTTTGTTGAACATATTCATTGTTTGTTTATTAATAAATTACCATTCAGTTTGAATGAGACCTATATGTCTGGATACTTTAATAGAGCTTTAATTATTACGAA
Task1_train_9942
Gene FOXC1 (forkhead box C1) on Chromosome 6 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; FOXC1-related disorder
TAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCCCCCCGGGGAGGGGGGCGAGAAGCAGGGCGGCCCGCAGCGGGGCGGGCTCATCCTTCGCGGGTGAACGGCCGTCGGAAACTCCCAGCAGGGCCCCGCACCCCTTGCCTTCATTTCGGCTGGGGAGGGGTCATGGAGGGGGGCCAGATGGGCGACGAACCTTCTTCCCCACCGCGAGCAGGGCCTGGCTGTGACCGAGCCCTCAAAATCATGTCCTTTGTAGCCGAGTTCAGGACAGGAGAACCTCCAAGTGGAGAAAAGCCGGAGACGTCAGTGACCCGAGTGAGACTGGCGTTGGAGAAGGGAGGGAAGGGGCTGCGGGAGGGGAGAGGCGGCGGGGAGGAGAGGCTGGGGCAACCCCAGCGCTGGCGTCGGCGGGGCTGGCGAAGGAATGAGAGCGAGCCAGCACGAGGCGGGGCGGAGACGCCAGGGCCACTCGGGAGCCGTGGGCGAAGGAAGGGTCTGCACGGGGTCCCGGGAGGACCCAGGAAGTCTGCGCGAACGGCGGGCGTGGGTCCGGAGGGCCCGGGGTGGGAGGTCTGCCGGGCGCCGGCGGCAGGCAGGTGGACTGCGGGGGGCGAACCGACGGCGGGCCGGGCGCCGGCGCGGGCGCAGGGCCGGGGCCCGGGCCAGGGCGGCCGGCGCGCGTGTGGTCAGCCCCGCGGTCCTCCGGCCTCCGGGAGCGGGCCGGCAGGGCTCGGCCTCCGGCTCATTCGGAGGCGGTTCTCACCTCCCATTGGCTGCCGCCGCTGGCGGGGCGGGGCTCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCGCCGGCAGCTCAGGGCAGAGTCTCCTGGAAGGCGCAGGCAGTGTGGCGAGAAGGGCGCCTGCTTGTTCTTTCTTTTTGTCTGCTTTCCCCCGTTTGCGCCTGGAAGCTGCGCCGCGAGTTCCTGCAAGGCGGTCTGCCGCGGCCGGGCCCGGCCTTCTCCCCTCGCAGCGACCCCGCCTCGCGGCCGCGCGGGCCCCGAGGTAGCCCGAGGCGCCGGAGGAGCCAGCCCCAGCGAGCGCCGGGAGAGGCGGCAGCGCAGCCGGACGCACAGCGCAGCGGGCCGGCACCAGCTCGGCCGGGCCCGGACTCGGACTCGGCGGCCGGCGCGGCGCGGCCCGGCCCGAGCGAGGGTGGGGGGCGGCGGGCGGCGCGGGGCGGCGGCGAGCGGGGGCCATGCAGGCGCGCTACTCCGTGTCCAGCCCCAACTCCCTGGGAGTGGTGCCCTACCTCGGCGGCGAGCAGAGCTACTACCGCGCGGCGGCCGCGGCGGCCGGGGGCGGCTACACCGCCATGCCGGCCCCCATGAGCGTGTACTCGCACCCTGCGCACGCCGAGCAGTACCCGGGCGGCATGGCCCGCGCCTACGGGCCCTACACGCCGCAGCCGCAGCCCAAGGACATGGTGAAGCCGCCCTATAGCTACATCGCGCTCATCACCATGGCCATCCAGAACGCCCCGGACAAGAAGATCACCCTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGACAACAAGCAGGGCTGGCAGAACAGCATCCGCCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCGCGCGACGACAAGAAGCCGGGCAAGGGCAGCTACTGGACGCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGGCGGCGGCGCTTCAAGAAGAAGGACGCGGTGAAGGACAAGGAGGAGAAGGACAGGCTGCACCTCAAGGAGCCGCCCCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACGCGCCCGGTCCGCAGCCGCCGCCCGTGCGCATCCAGGACATCAAGACCGAGAACGGTACGTGCCCCTCGCCGCCCCAGCCCCTGTCCCCGGCCGCCGCCCTGGGCAGCGGCAGCGCCGCCGCGGTGCCCAAGATCGAGAGCCCCGACAGCAGCAGCAGCAGCCTGTCCAGCGGGAGCAGCCCCCCGGGCAGCCTGCCGTCGGCGCGGCCGCTCAGCCTGGACGGTGCGGATTCCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCGCCGCCGCACCATAGCCAGGGCTTCAGCGTGGACAACATCATGACGTCGCTGCGGGGGTCGCCGCAGAGCGCGGCCGCGGAGCTCAGCTCCGGCCTTCTGGCCTCGGCGGCCGCGTCCTCGCGCGCGGGGATCGCACCCCCGCTGGCGCTCGGCGCCTACTCGCCCGGCCAGAGCTCCCTCTACAGCTCCCCCTGCAGCCAGACCTCCAGCGCGGGCAGCTCGGGCGGCGGCGGCGGCGGCGCGGGGGCCGCGGGGGGCGCGGGCGGCGCCGGGACCTACCACTGCAACCTGCAAGCCATGAGCCTGTACGCGGCCGGCGAGCGCGGGGGCCACTTGCAGGGCGCGCCCGGGGGCGCGGGCGGCTCGGCCGTGGACGACCCCCTGCCCGACTACTCTCTGCCTCCGGTCACCAGCAGCAGCTCGTCGTCCCTGAGTCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCCAGGAGGCCGGCCACCACCCTGCGGCCCACCAAGGCCGCCTCACCTCGTGGTACCTGAACCAGGCGGGCGGAGACCTGGGCCACTTGGCGAGCGCGGCGGCGGCGGCGGCGGCCGCAGGCTACCCGGGCCAGCAGCAGAACTTCCACTCGGTGCGGGAGATGTTCGAGTCACAGAGGATCGGCTTGAACAACTCTCCAGTGAACGGGAATAGTAGCTGTCAAATGGCCTTCCCTTCCAGCCAGTCTCTGTACCGCACGTCCGGAGCTTTCGTCTACGACTGTAGCAAGTTTTGACACACCCTCAAAGCCGAACTAAATCGAACCCCAAAGCAGGAAAAGCTAAAGGAACCCATCAAGGCAAAATCGAAACTAAAAAAAAAAAATCCAATTAAAAAAAACCCCTGAGAATATTCACCACACCAGCGAACAGAATATCCCTCCAAAAATTCAGCTCACCAGCACCAGCACGAAGAAAACTCTATTTTCTTAACCGATTAATTCAGAGCCACCTCCACTTTGCCTTGTCTAAATAAACAAACCCGTAAACTGTTTTATACAGAGACAGCAAAATCTTGGTTTATTAAAGGACAGTGTTACTCCAGATAACACGTAAGTTTCTTCTTGCTTTTCAGAGACCTGCTTTCCCCTCCTCCCGTCTCCCCTCTCTTGCCTTCTTCCTTGCCTCTCACCTGTAAGATATTATTTTATCCTATGTTGAAGGGAGGGGGAAAGTCCCCGTTTATGAAAGTCGCTTTCTTTTTATTCATGGACTTGTTTTAAAATGTAAATTGCAACATAGTAATTTATTTTTAATTTGTAGTTGGATGTCGTGGACCAAACGCCAGAAAGTGTTCCCAAAACCTGACGTTAAATTGCCTGAAACTTTAAATTGTGCTTTTTTTCTCATTATAAAAAGGGAAACTGTATTAATCTTATTCTATCCTCTTTTCTTTCTTTTTGTTGAACATATTCATTGTTTGTTTATTAATAAATTACCATTCAGTTTGAATGAGACCTATATGTCTGGATACTTTAATAGAGCTTTAATTATTACGAAAA
TAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCCCCCCGGGGAGGGGGGCGAGAAGCAGGGCGGCCCGCAGCGGGGCGGGCTCATCCTTCGCGGGTGAACGGCCGTCGGAAACTCCCAGCAGGGCCCCGCACCCCTTGCCTTCATTTCGGCTGGGGAGGGGTCATGGAGGGGGGCCAGATGGGCGACGAACCTTCTTCCCCACCGCGAGCAGGGCCTGGCTGTGACCGAGCCCTCAAAATCATGTCCTTTGTAGCCGAGTTCAGGACAGGAGAACCTCCAAGTGGAGAAAAGCCGGAGACGTCAGTGACCCGAGTGAGACTGGCGTTGGAGAAGGGAGGGAAGGGGCTGCGGGAGGGGAGAGGCGGCGGGGAGGAGAGGCTGGGGCAACCCCAGCGCTGGCGTCGGCGGGGCTGGCGAAGGAATGAGAGCGAGCCAGCACGAGGCGGGGCGGAGACGCCAGGGCCACTCGGGAGCCGTGGGCGAAGGAAGGGTCTGCACGGGGTCCCGGGAGGACCCAGGAAGTCTGCGCGAACGGCGGGCGTGGGTCCGGAGGGCCCGGGGTGGGAGGTCTGCCGGGCGCCGGCGGCAGGCAGGTGGACTGCGGGGGGCGAACCGACGGCGGGCCGGGCGCCGGCGCGGGCGCAGGGCCGGGGCCCGGGCCAGGGCGGCCGGCGCGCGTGTGGTCAGCCCCGCGGTCCTCCGGCCTCCGGGAGCGGGCCGGCAGGGCTCGGCCTCCGGCTCATTCGGAGGCGGTTCTCACCTCCCATTGGCTGCCGCCGCTGGCGGGGCGGGGCTCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCGCCGGCAGCTCAGGGCAGAGTCTCCTGGAAGGCGCAGGCAGTGTGGCGAGAAGGGCGCCTGCTTGTTCTTTCTTTTTGTCTGCTTTCCCCCGTTTGCGCCTGGAAGCTGCGCCGCGAGTTCCTGCAAGGCGGTCTGCCGCGGCCGGGCCCGGCCTTCTCCCCTCGCAGCGACCCCGCCTCGCGGCCGCGCGGGCCCCGAGGTAGCCCGAGGCGCCGGAGGAGCCAGCCCCAGCGAGCGCCGGGAGAGGCGGCAGCGCAGCCGGACGCACAGCGCAGCGGGCCGGCACCAGCTCGGCCGGGCCCGGACTCGGACTCGGCGGCCGGCGCGGCGCGGCCCGGCCCGAGCGAGGGTGGGGGGCGGCGGGCGGCGCGGGGCGGCGGCGAGCGGGGGCCATGCAGGCGCGCTACTCCGTGTCCAGCCCCAACTCCCTGGGAGTGGTGCCCTACCTCGGCGGCGAGCAGAGCTACTACCGCGCGGCGGCCGCGGCGGCCGGGGGCGGCTACACCGCCATGCCGGCCCCCATGAGCGTGTACTCGCACCCTGCGCACGCCGAGCAGTACCCGGGCGGCATGGCCCGCGCCTACGGGCCCTACACGCCGCAGCCGCAGCCCAAGGACATGGTGAAGCCGCCCTATAGCTACATCGCGCTCATCACCATGGCCATCCAGAACGCCCCGGACAAGAAGATCACCCTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGACAACAAGCAGGGCTGGCAGAACAGCATCCACCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCGCGCGACGACAAGAAGCCGGGCAAGGGCAGCTACTGGACGCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGGCGGCGGCGCTTCAAGAAGAAGGACGCGGTGAAGGACAAGGAGGAGAAGGACAGGCTGCACCTCAAGGAGCCGCCCCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACGCGCCCGGTCCGCAGCCGCCGCCCGTGCGCATCCAGGACATCAAGACCGAGAACGGTACGTGCCCCTCGCCGCCCCAGCCCCTGTCCCCGGCCGCCGCCCTGGGCAGCGGCAGCGCCGCCGCGGTGCCCAAGATCGAGAGCCCCGACAGCAGCAGCAGCAGCCTGTCCAGCGGGAGCAGCCCCCCGGGCAGCCTGCCGTCGGCGCGGCCGCTCAGCCTGGACGGTGCGGATTCCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCGCCGCCGCACCATAGCCAGGGCTTCAGCGTGGACAACATCATGACGTCGCTGCGGGGGTCGCCGCAGAGCGCGGCCGCGGAGCTCAGCTCCGGCCTTCTGGCCTCGGCGGCCGCGTCCTCGCGCGCGGGGATCGCACCCCCGCTGGCGCTCGGCGCCTACTCGCCCGGCCAGAGCTCCCTCTACAGCTCCCCCTGCAGCCAGACCTCCAGCGCGGGCAGCTCGGGCGGCGGCGGCGGCGGCGCGGGGGCCGCGGGGGGCGCGGGCGGCGCCGGGACCTACCACTGCAACCTGCAAGCCATGAGCCTGTACGCGGCCGGCGAGCGCGGGGGCCACTTGCAGGGCGCGCCCGGGGGCGCGGGCGGCTCGGCCGTGGACGACCCCCTGCCCGACTACTCTCTGCCTCCGGTCACCAGCAGCAGCTCGTCGTCCCTGAGTCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCCAGGAGGCCGGCCACCACCCTGCGGCCCACCAAGGCCGCCTCACCTCGTGGTACCTGAACCAGGCGGGCGGAGACCTGGGCCACTTGGCGAGCGCGGCGGCGGCGGCGGCGGCCGCAGGCTACCCGGGCCAGCAGCAGAACTTCCACTCGGTGCGGGAGATGTTCGAGTCACAGAGGATCGGCTTGAACAACTCTCCAGTGAACGGGAATAGTAGCTGTCAAATGGCCTTCCCTTCCAGCCAGTCTCTGTACCGCACGTCCGGAGCTTTCGTCTACGACTGTAGCAAGTTTTGACACACCCTCAAAGCCGAACTAAATCGAACCCCAAAGCAGGAAAAGCTAAAGGAACCCATCAAGGCAAAATCGAAACTAAAAAAAAAAAATCCAATTAAAAAAAACCCCTGAGAATATTCACCACACCAGCGAACAGAATATCCCTCCAAAAATTCAGCTCACCAGCACCAGCACGAAGAAAACTCTATTTTCTTAACCGATTAATTCAGAGCCACCTCCACTTTGCCTTGTCTAAATAAACAAACCCGTAAACTGTTTTATACAGAGACAGCAAAATCTTGGTTTATTAAAGGACAGTGTTACTCCAGATAACACGTAAGTTTCTTCTTGCTTTTCAGAGACCTGCTTTCCCCTCCTCCCGTCTCCCCTCTCTTGCCTTCTTCCTTGCCTCTCACCTGTAAGATATTATTTTATCCTATGTTGAAGGGAGGGGGAAAGTCCCCGTTTATGAAAGTCGCTTTCTTTTTATTCATGGACTTGTTTTAAAATGTAAATTGCAACATAGTAATTTATTTTTAATTTGTAGTTGGATGTCGTGGACCAAACGCCAGAAAGTGTTCCCAAAACCTGACGTTAAATTGCCTGAAACTTTAAATTGTGCTTTTTTTCTCATTATAAAAAGGGAAACTGTATTAATCTTATTCTATCCTCTTTTCTTTCTTTTTGTTGAACATATTCATTGTTTGTTTATTAATAAATTACCATTCAGTTTGAATGAGACCTATATGTCTGGATACTTTAATAGAGCTTTAATTATTACGAAAA
Task1_train_9943
Here is a genetic alteration in FOXC1 (forkhead box C1) on Chromosome 6. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Axenfeld-Rieger syndrome type 3
TAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCCCCCCGGGGAGGGGGGCGAGAAGCAGGGCGGCCCGCAGCGGGGCGGGCTCATCCTTCGCGGGTGAACGGCCGTCGGAAACTCCCAGCAGGGCCCCGCACCCCTTGCCTTCATTTCGGCTGGGGAGGGGTCATGGAGGGGGGCCAGATGGGCGACGAACCTTCTTCCCCACCGCGAGCAGGGCCTGGCTGTGACCGAGCCCTCAAAATCATGTCCTTTGTAGCCGAGTTCAGGACAGGAGAACCTCCAAGTGGAGAAAAGCCGGAGACGTCAGTGACCCGAGTGAGACTGGCGTTGGAGAAGGGAGGGAAGGGGCTGCGGGAGGGGAGAGGCGGCGGGGAGGAGAGGCTGGGGCAACCCCAGCGCTGGCGTCGGCGGGGCTGGCGAAGGAATGAGAGCGAGCCAGCACGAGGCGGGGCGGAGACGCCAGGGCCACTCGGGAGCCGTGGGCGAAGGAAGGGTCTGCACGGGGTCCCGGGAGGACCCAGGAAGTCTGCGCGAACGGCGGGCGTGGGTCCGGAGGGCCCGGGGTGGGAGGTCTGCCGGGCGCCGGCGGCAGGCAGGTGGACTGCGGGGGGCGAACCGACGGCGGGCCGGGCGCCGGCGCGGGCGCAGGGCCGGGGCCCGGGCCAGGGCGGCCGGCGCGCGTGTGGTCAGCCCCGCGGTCCTCCGGCCTCCGGGAGCGGGCCGGCAGGGCTCGGCCTCCGGCTCATTCGGAGGCGGTTCTCACCTCCCATTGGCTGCCGCCGCTGGCGGGGCGGGGCTCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCGCCGGCAGCTCAGGGCAGAGTCTCCTGGAAGGCGCAGGCAGTGTGGCGAGAAGGGCGCCTGCTTGTTCTTTCTTTTTGTCTGCTTTCCCCCGTTTGCGCCTGGAAGCTGCGCCGCGAGTTCCTGCAAGGCGGTCTGCCGCGGCCGGGCCCGGCCTTCTCCCCTCGCAGCGACCCCGCCTCGCGGCCGCGCGGGCCCCGAGGTAGCCCGAGGCGCCGGAGGAGCCAGCCCCAGCGAGCGCCGGGAGAGGCGGCAGCGCAGCCGGACGCACAGCGCAGCGGGCCGGCACCAGCTCGGCCGGGCCCGGACTCGGACTCGGCGGCCGGCGCGGCGCGGCCCGGCCCGAGCGAGGGTGGGGGGCGGCGGGCGGCGCGGGGCGGCGGCGAGCGGGGGCCATGCAGGCGCGCTACTCCGTGTCCAGCCCCAACTCCCTGGGAGTGGTGCCCTACCTCGGCGGCGAGCAGAGCTACTACCGCGCGGCGGCCGCGGCGGCCGGGGGCGGCTACACCGCCATGCCGGCCCCCATGAGCGTGTACTCGCACCCTGCGCACGCCGAGCAGTACCCGGGCGGCATGGCCCGCGCCTACGGGCCCTACACGCCGCAGCCGCAGCCCAAGGACATGGTGAAGCCGCCCTATAGCTACATCGCGCTCATCACCATGGCCATCCAGAACGCCCCGGACAAGAAGATCACCCTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGACAACAAGCAGGGCTGGCAGAACAGCATCCGCCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCGCGCGACGACAAGAAGCCGGGCAAGGGCAGCTACTGGACGCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGGCGGCGGCGCTTCAAGAAGAAGGACGCGGTGAAGGACAAGGAGGAGAAGGACAGGCTGCACCTCAAGGAGCCGCCCCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACGCGCCCGGTCCGCAGCCGCCGCCCGTGCGCATCCAGGACATCAAGACCGAGAACGGTACGTGCCCCTCGCCGCCCCAGCCCCTGTCCCCGGCCGCCGCCCTGGGCAGCGGCAGCGCCGCCGCGGTGCCCAAGATCGAGAGCCCCGACAGCAGCAGCAGCAGCCTGTCCAGCGGGAGCAGCCCCCCGGGCAGCCTGCCGTCGGCGCGGCCGCTCAGCCTGGACGGTGCGGATTCCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCGCCGCCGCACCATAGCCAGGGCTTCAGCGTGGACAACATCATGACGTCGCTGCGGGGGTCGCCGCAGAGCGCGGCCGCGGAGCTCAGCTCCGGCCTTCTGGCCTCGGCGGCCGCGTCCTCGCGCGCGGGGATCGCACCCCCGCTGGCGCTCGGCGCCTACTCGCCCGGCCAGAGCTCCCTCTACAGCTCCCCCTGCAGCCAGACCTCCAGCGCGGGCAGCTCGGGCGGCGGCGGCGGCGGCGCGGGGGCCGCGGGGGGCGCGGGCGGCGCCGGGACCTACCACTGCAACCTGCAAGCCATGAGCCTGTACGCGGCCGGCGAGCGCGGGGGCCACTTGCAGGGCGCGCCCGGGGGCGCGGGCGGCTCGGCCGTGGACGACCCCCTGCCCGACTACTCTCTGCCTCCGGTCACCAGCAGCAGCTCGTCGTCCCTGAGTCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCCAGGAGGCCGGCCACCACCCTGCGGCCCACCAAGGCCGCCTCACCTCGTGGTACCTGAACCAGGCGGGCGGAGACCTGGGCCACTTGGCGAGCGCGGCGGCGGCGGCGGCGGCCGCAGGCTACCCGGGCCAGCAGCAGAACTTCCACTCGGTGCGGGAGATGTTCGAGTCACAGAGGATCGGCTTGAACAACTCTCCAGTGAACGGGAATAGTAGCTGTCAAATGGCCTTCCCTTCCAGCCAGTCTCTGTACCGCACGTCCGGAGCTTTCGTCTACGACTGTAGCAAGTTTTGACACACCCTCAAAGCCGAACTAAATCGAACCCCAAAGCAGGAAAAGCTAAAGGAACCCATCAAGGCAAAATCGAAACTAAAAAAAAAAAATCCAATTAAAAAAAACCCCTGAGAATATTCACCACACCAGCGAACAGAATATCCCTCCAAAAATTCAGCTCACCAGCACCAGCACGAAGAAAACTCTATTTTCTTAACCGATTAATTCAGAGCCACCTCCACTTTGCCTTGTCTAAATAAACAAACCCGTAAACTGTTTTATACAGAGACAGCAAAATCTTGGTTTATTAAAGGACAGTGTTACTCCAGATAACACGTAAGTTTCTTCTTGCTTTTCAGAGACCTGCTTTCCCCTCCTCCCGTCTCCCCTCTCTTGCCTTCTTCCTTGCCTCTCACCTGTAAGATATTATTTTATCCTATGTTGAAGGGAGGGGGAAAGTCCCCGTTTATGAAAGTCGCTTTCTTTTTATTCATGGACTTGTTTTAAAATGTAAATTGCAACATAGTAATTTATTTTTAATTTGTAGTTGGATGTCGTGGACCAAACGCCAGAAAGTGTTCCCAAAACCTGACGTTAAATTGCCTGAAACTTTAAATTGTGCTTTTTTTCTCATTATAAAAAGGGAAACTGTATTAATCTTATTCTATCCTCTTTTCTTTCTTTTTGTTGAACATATTCATTGTTTGTTTATTAATAAATTACCATTCAGTTTGAATGAGACCTATATGTCTGGATACTTTAATAGAGCTTTAATTATTACGAAAA
TAGGTGCGACCCTGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCCCCCCGGGGAGGGGGGCGAGAAGCAGGGCGGCCCGCAGCGGGGCGGGCTCATCCTTCGCGGGTGAACGGCCGTCGGAAACTCCCAGCAGGGCCCCGCACCCCTTGCCTTCATTTCGGCTGGGGAGGGGTCATGGAGGGGGGCCAGATGGGCGACGAACCTTCTTCCCCACCGCGAGCAGGGCCTGGCTGTGACCGAGCCCTCAAAATCATGTCCTTTGTAGCCGAGTTCAGGACAGGAGAACCTCCAAGTGGAGAAAAGCCGGAGACGTCAGTGACCCGAGTGAGACTGGCGTTGGAGAAGGGAGGGAAGGGGCTGCGGGAGGGGAGAGGCGGCGGGGAGGAGAGGCTGGGGCAACCCCAGCGCTGGCGTCGGCGGGGCTGGCGAAGGAATGAGAGCGAGCCAGCACGAGGCGGGGCGGAGACGCCAGGGCCACTCGGGAGCCGTGGGCGAAGGAAGGGTCTGCACGGGGTCCCGGGAGGACCCAGGAAGTCTGCGCGAACGGCGGGCGTGGGTCCGGAGGGCCCGGGGTGGGAGGTCTGCCGGGCGCCGGCGGCAGGCAGGTGGACTGCGGGGGGCGAACCGACGGCGGGCCGGGCGCCGGCGCGGGCGCAGGGCCGGGGCCCGGGCCAGGGCGGCCGGCGCGCGTGTGGTCAGCCCCGCGGTCCTCCGGCCTCCGGGAGCGGGCCGGCAGGGCTCGGCCTCCGGCTCATTCGGAGGCGGTTCTCACCTCCCATTGGCTGCCGCCGCTGGCGGGGCGGGGCTCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCGCCGGCAGCTCAGGGCAGAGTCTCCTGGAAGGCGCAGGCAGTGTGGCGAGAAGGGCGCCTGCTTGTTCTTTCTTTTTGTCTGCTTTCCCCCGTTTGCGCCTGGAAGCTGCGCCGCGAGTTCCTGCAAGGCGGTCTGCCGCGGCCGGGCCCGGCCTTCTCCCCTCGCAGCGACCCCGCCTCGCGGCCGCGCGGGCCCCGAGGTAGCCCGAGGCGCCGGAGGAGCCAGCCCCAGCGAGCGCCGGGAGAGGCGGCAGCGCAGCCGGACGCACAGCGCAGCGGGCCGGCACCAGCTCGGCCGGGCCCGGACTCGGACTCGGCGGCCGGCGCGGCGCGGCCCGGCCCGAGCGAGGGTGGGGGGCGGCGGGCGGCGCGGGGCGGCGGCGAGCGGGGGCCATGCAGGCGCGCTACTCCGTGTCCAGCCCCAACTCCCTGGGAGTGGTGCCCTACCTCGGCGGCGAGCAGAGCTACTACCGCGCGGCGGCCGCGGCGGCCGGGGGCGGCTACACCGCCATGCCGGCCCCCATGAGCGTGTACTCGCACCCTGCGCACGCCGAGCAGTACCCGGGCGGCATGGCCCGCGCCTACGGGCCCTACACGCCGCAGCCGCAGCCCAAGGACATGGTGAAGCCGCCCTATAGCTACATCGCGCTCATCACCATGGCCATCCAGAACGCCCCGGACAAGAAGATCACCCTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGACAACAAGCAGGGCTGGCAGAACAGCATCCACCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCGCGCGACGACAAGAAGCCGGGCAAGGGCAGCTACTGGACGCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGGCGGCGGCGCTTCAAGAAGAAGGACGCGGTGAAGGACAAGGAGGAGAAGGACAGGCTGCACCTCAAGGAGCCGCCCCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACGCGCCCGGTCCGCAGCCGCCGCCCGTGCGCATCCAGGACATCAAGACCGAGAACGGTACGTGCCCCTCGCCGCCCCAGCCCCTGTCCCCGGCCGCCGCCCTGGGCAGCGGCAGCGCCGCCGCGGTGCCCAAGATCGAGAGCCCCGACAGCAGCAGCAGCAGCCTGTCCAGCGGGAGCAGCCCCCCGGGCAGCCTGCCGTCGGCGCGGCCGCTCAGCCTGGACGGTGCGGATTCCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCGCCGCCGCACCATAGCCAGGGCTTCAGCGTGGACAACATCATGACGTCGCTGCGGGGGTCGCCGCAGAGCGCGGCCGCGGAGCTCAGCTCCGGCCTTCTGGCCTCGGCGGCCGCGTCCTCGCGCGCGGGGATCGCACCCCCGCTGGCGCTCGGCGCCTACTCGCCCGGCCAGAGCTCCCTCTACAGCTCCCCCTGCAGCCAGACCTCCAGCGCGGGCAGCTCGGGCGGCGGCGGCGGCGGCGCGGGGGCCGCGGGGGGCGCGGGCGGCGCCGGGACCTACCACTGCAACCTGCAAGCCATGAGCCTGTACGCGGCCGGCGAGCGCGGGGGCCACTTGCAGGGCGCGCCCGGGGGCGCGGGCGGCTCGGCCGTGGACGACCCCCTGCCCGACTACTCTCTGCCTCCGGTCACCAGCAGCAGCTCGTCGTCCCTGAGTCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCCAGGAGGCCGGCCACCACCCTGCGGCCCACCAAGGCCGCCTCACCTCGTGGTACCTGAACCAGGCGGGCGGAGACCTGGGCCACTTGGCGAGCGCGGCGGCGGCGGCGGCGGCCGCAGGCTACCCGGGCCAGCAGCAGAACTTCCACTCGGTGCGGGAGATGTTCGAGTCACAGAGGATCGGCTTGAACAACTCTCCAGTGAACGGGAATAGTAGCTGTCAAATGGCCTTCCCTTCCAGCCAGTCTCTGTACCGCACGTCCGGAGCTTTCGTCTACGACTGTAGCAAGTTTTGACACACCCTCAAAGCCGAACTAAATCGAACCCCAAAGCAGGAAAAGCTAAAGGAACCCATCAAGGCAAAATCGAAACTAAAAAAAAAAAATCCAATTAAAAAAAACCCCTGAGAATATTCACCACACCAGCGAACAGAATATCCCTCCAAAAATTCAGCTCACCAGCACCAGCACGAAGAAAACTCTATTTTCTTAACCGATTAATTCAGAGCCACCTCCACTTTGCCTTGTCTAAATAAACAAACCCGTAAACTGTTTTATACAGAGACAGCAAAATCTTGGTTTATTAAAGGACAGTGTTACTCCAGATAACACGTAAGTTTCTTCTTGCTTTTCAGAGACCTGCTTTCCCCTCCTCCCGTCTCCCCTCTCTTGCCTTCTTCCTTGCCTCTCACCTGTAAGATATTATTTTATCCTATGTTGAAGGGAGGGGGAAAGTCCCCGTTTATGAAAGTCGCTTTCTTTTTATTCATGGACTTGTTTTAAAATGTAAATTGCAACATAGTAATTTATTTTTAATTTGTAGTTGGATGTCGTGGACCAAACGCCAGAAAGTGTTCCCAAAACCTGACGTTAAATTGCCTGAAACTTTAAATTGTGCTTTTTTTCTCATTATAAAAAGGGAAACTGTATTAATCTTATTCTATCCTCTTTTCTTTCTTTTTGTTGAACATATTCATTGTTTGTTTATTAATAAATTACCATTCAGTTTGAATGAGACCTATATGTCTGGATACTTTAATAGAGCTTTAATTATTACGAAAA
Task1_train_9944
This variant lies on Chromosome 6 and affects the gene FOXC1 (forkhead box C1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Axenfeld-Rieger syndrome type 3
TGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCCCCCCGGGGAGGGGGGCGAGAAGCAGGGCGGCCCGCAGCGGGGCGGGCTCATCCTTCGCGGGTGAACGGCCGTCGGAAACTCCCAGCAGGGCCCCGCACCCCTTGCCTTCATTTCGGCTGGGGAGGGGTCATGGAGGGGGGCCAGATGGGCGACGAACCTTCTTCCCCACCGCGAGCAGGGCCTGGCTGTGACCGAGCCCTCAAAATCATGTCCTTTGTAGCCGAGTTCAGGACAGGAGAACCTCCAAGTGGAGAAAAGCCGGAGACGTCAGTGACCCGAGTGAGACTGGCGTTGGAGAAGGGAGGGAAGGGGCTGCGGGAGGGGAGAGGCGGCGGGGAGGAGAGGCTGGGGCAACCCCAGCGCTGGCGTCGGCGGGGCTGGCGAAGGAATGAGAGCGAGCCAGCACGAGGCGGGGCGGAGACGCCAGGGCCACTCGGGAGCCGTGGGCGAAGGAAGGGTCTGCACGGGGTCCCGGGAGGACCCAGGAAGTCTGCGCGAACGGCGGGCGTGGGTCCGGAGGGCCCGGGGTGGGAGGTCTGCCGGGCGCCGGCGGCAGGCAGGTGGACTGCGGGGGGCGAACCGACGGCGGGCCGGGCGCCGGCGCGGGCGCAGGGCCGGGGCCCGGGCCAGGGCGGCCGGCGCGCGTGTGGTCAGCCCCGCGGTCCTCCGGCCTCCGGGAGCGGGCCGGCAGGGCTCGGCCTCCGGCTCATTCGGAGGCGGTTCTCACCTCCCATTGGCTGCCGCCGCTGGCGGGGCGGGGCTCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCGCCGGCAGCTCAGGGCAGAGTCTCCTGGAAGGCGCAGGCAGTGTGGCGAGAAGGGCGCCTGCTTGTTCTTTCTTTTTGTCTGCTTTCCCCCGTTTGCGCCTGGAAGCTGCGCCGCGAGTTCCTGCAAGGCGGTCTGCCGCGGCCGGGCCCGGCCTTCTCCCCTCGCAGCGACCCCGCCTCGCGGCCGCGCGGGCCCCGAGGTAGCCCGAGGCGCCGGAGGAGCCAGCCCCAGCGAGCGCCGGGAGAGGCGGCAGCGCAGCCGGACGCACAGCGCAGCGGGCCGGCACCAGCTCGGCCGGGCCCGGACTCGGACTCGGCGGCCGGCGCGGCGCGGCCCGGCCCGAGCGAGGGTGGGGGGCGGCGGGCGGCGCGGGGCGGCGGCGAGCGGGGGCCATGCAGGCGCGCTACTCCGTGTCCAGCCCCAACTCCCTGGGAGTGGTGCCCTACCTCGGCGGCGAGCAGAGCTACTACCGCGCGGCGGCCGCGGCGGCCGGGGGCGGCTACACCGCCATGCCGGCCCCCATGAGCGTGTACTCGCACCCTGCGCACGCCGAGCAGTACCCGGGCGGCATGGCCCGCGCCTACGGGCCCTACACGCCGCAGCCGCAGCCCAAGGACATGGTGAAGCCGCCCTATAGCTACATCGCGCTCATCACCATGGCCATCCAGAACGCCCCGGACAAGAAGATCACCCTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGACAACAAGCAGGGCTGGCAGAACAGCATCCGCCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCGCGCGACGACAAGAAGCCGGGCAAGGGCAGCTACTGGACGCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGGCGGCGGCGCTTCAAGAAGAAGGACGCGGTGAAGGACAAGGAGGAGAAGGACAGGCTGCACCTCAAGGAGCCGCCCCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACGCGCCCGGTCCGCAGCCGCCGCCCGTGCGCATCCAGGACATCAAGACCGAGAACGGTACGTGCCCCTCGCCGCCCCAGCCCCTGTCCCCGGCCGCCGCCCTGGGCAGCGGCAGCGCCGCCGCGGTGCCCAAGATCGAGAGCCCCGACAGCAGCAGCAGCAGCCTGTCCAGCGGGAGCAGCCCCCCGGGCAGCCTGCCGTCGGCGCGGCCGCTCAGCCTGGACGGTGCGGATTCCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCGCCGCCGCACCATAGCCAGGGCTTCAGCGTGGACAACATCATGACGTCGCTGCGGGGGTCGCCGCAGAGCGCGGCCGCGGAGCTCAGCTCCGGCCTTCTGGCCTCGGCGGCCGCGTCCTCGCGCGCGGGGATCGCACCCCCGCTGGCGCTCGGCGCCTACTCGCCCGGCCAGAGCTCCCTCTACAGCTCCCCCTGCAGCCAGACCTCCAGCGCGGGCAGCTCGGGCGGCGGCGGCGGCGGCGCGGGGGCCGCGGGGGGCGCGGGCGGCGCCGGGACCTACCACTGCAACCTGCAAGCCATGAGCCTGTACGCGGCCGGCGAGCGCGGGGGCCACTTGCAGGGCGCGCCCGGGGGCGCGGGCGGCTCGGCCGTGGACGACCCCCTGCCCGACTACTCTCTGCCTCCGGTCACCAGCAGCAGCTCGTCGTCCCTGAGTCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCCAGGAGGCCGGCCACCACCCTGCGGCCCACCAAGGCCGCCTCACCTCGTGGTACCTGAACCAGGCGGGCGGAGACCTGGGCCACTTGGCGAGCGCGGCGGCGGCGGCGGCGGCCGCAGGCTACCCGGGCCAGCAGCAGAACTTCCACTCGGTGCGGGAGATGTTCGAGTCACAGAGGATCGGCTTGAACAACTCTCCAGTGAACGGGAATAGTAGCTGTCAAATGGCCTTCCCTTCCAGCCAGTCTCTGTACCGCACGTCCGGAGCTTTCGTCTACGACTGTAGCAAGTTTTGACACACCCTCAAAGCCGAACTAAATCGAACCCCAAAGCAGGAAAAGCTAAAGGAACCCATCAAGGCAAAATCGAAACTAAAAAAAAAAAATCCAATTAAAAAAAACCCCTGAGAATATTCACCACACCAGCGAACAGAATATCCCTCCAAAAATTCAGCTCACCAGCACCAGCACGAAGAAAACTCTATTTTCTTAACCGATTAATTCAGAGCCACCTCCACTTTGCCTTGTCTAAATAAACAAACCCGTAAACTGTTTTATACAGAGACAGCAAAATCTTGGTTTATTAAAGGACAGTGTTACTCCAGATAACACGTAAGTTTCTTCTTGCTTTTCAGAGACCTGCTTTCCCCTCCTCCCGTCTCCCCTCTCTTGCCTTCTTCCTTGCCTCTCACCTGTAAGATATTATTTTATCCTATGTTGAAGGGAGGGGGAAAGTCCCCGTTTATGAAAGTCGCTTTCTTTTTATTCATGGACTTGTTTTAAAATGTAAATTGCAACATAGTAATTTATTTTTAATTTGTAGTTGGATGTCGTGGACCAAACGCCAGAAAGTGTTCCCAAAACCTGACGTTAAATTGCCTGAAACTTTAAATTGTGCTTTTTTTCTCATTATAAAAAGGGAAACTGTATTAATCTTATTCTATCCTCTTTTCTTTCTTTTTGTTGAACATATTCATTGTTTGTTTATTAATAAATTACCATTCAGTTTGAATGAGACCTATATGTCTGGATACTTTAATAGAGCTTTAATTATTACGAAAAAAGATTTCAGAG
TGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCCCCCCGGGGAGGGGGGCGAGAAGCAGGGCGGCCCGCAGCGGGGCGGGCTCATCCTTCGCGGGTGAACGGCCGTCGGAAACTCCCAGCAGGGCCCCGCACCCCTTGCCTTCATTTCGGCTGGGGAGGGGTCATGGAGGGGGGCCAGATGGGCGACGAACCTTCTTCCCCACCGCGAGCAGGGCCTGGCTGTGACCGAGCCCTCAAAATCATGTCCTTTGTAGCCGAGTTCAGGACAGGAGAACCTCCAAGTGGAGAAAAGCCGGAGACGTCAGTGACCCGAGTGAGACTGGCGTTGGAGAAGGGAGGGAAGGGGCTGCGGGAGGGGAGAGGCGGCGGGGAGGAGAGGCTGGGGCAACCCCAGCGCTGGCGTCGGCGGGGCTGGCGAAGGAATGAGAGCGAGCCAGCACGAGGCGGGGCGGAGACGCCAGGGCCACTCGGGAGCCGTGGGCGAAGGAAGGGTCTGCACGGGGTCCCGGGAGGACCCAGGAAGTCTGCGCGAACGGCGGGCGTGGGTCCGGAGGGCCCGGGGTGGGAGGTCTGCCGGGCGCCGGCGGCAGGCAGGTGGACTGCGGGGGGCGAACCGACGGCGGGCCGGGCGCCGGCGCGGGCGCAGGGCCGGGGCCCGGGCCAGGGCGGCCGGCGCGCGTGTGGTCAGCCCCGCGGTCCTCCGGCCTCCGGGAGCGGGCCGGCAGGGCTCGGCCTCCGGCTCATTCGGAGGCGGTTCTCACCTCCCATTGGCTGCCGCCGCTGGCGGGGCGGGGCTCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCGCCGGCAGCTCAGGGCAGAGTCTCCTGGAAGGCGCAGGCAGTGTGGCGAGAAGGGCGCCTGCTTGTTCTTTCTTTTTGTCTGCTTTCCCCCGTTTGCGCCTGGAAGCTGCGCCGCGAGTTCCTGCAAGGCGGTCTGCCGCGGCCGGGCCCGGCCTTCTCCCCTCGCAGCGACCCCGCCTCGCGGCCGCGCGGGCCCCGAGGTAGCCCGAGGCGCCGGAGGAGCCAGCCCCAGCGAGCGCCGGGAGAGGCGGCAGCGCAGCCGGACGCACAGCGCAGCGGGCCGGCACCAGCTCGGCCGGGCCCGGACTCGGACTCGGCGGCCGGCGCGGCGCGGCCCGGCCCGAGCGAGGGTGGGGGGCGGCGGGCGGCGCGGGGCGGCGGCGAGCGGGGGCCATGCAGGCGCGCTACTCCGTGTCCAGCCCCAACTCCCTGGGAGTGGTGCCCTACCTCGGCGGCGAGCAGAGCTACTACCGCGCGGCGGCCGCGGCGGCCGGGGGCGGCTACACCGCCATGCCGGCCCCCATGAGCGTGTACTCGCACCCTGCGCACGCCGAGCAGTACCCGGGCGGCATGGCCCGCGCCTACGGGCCCTACACGCCGCAGCCGCAGCCCAAGGACATGGTGAAGCCGCCCTATAGCTACATCGCGCTCATCACCATGGCCATCCAGAACGCCCCGGACAAGAAGATCACCCTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGACAACAAGCAGGGCTGGCAGAACAGCATCCGCCACAACCTCTGGCTCAACGAGTGCTTCGTCAAGGTGCCGCGCGACGACAAGAAGCCGGGCAAGGGCAGCTACTGGACGCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGGCGGCGGCGCTTCAAGAAGAAGGACGCGGTGAAGGACAAGGAGGAGAAGGACAGGCTGCACCTCAAGGAGCCGCCCCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACGCGCCCGGTCCGCAGCCGCCGCCCGTGCGCATCCAGGACATCAAGACCGAGAACGGTACGTGCCCCTCGCCGCCCCAGCCCCTGTCCCCGGCCGCCGCCCTGGGCAGCGGCAGCGCCGCCGCGGTGCCCAAGATCGAGAGCCCCGACAGCAGCAGCAGCAGCCTGTCCAGCGGGAGCAGCCCCCCGGGCAGCCTGCCGTCGGCGCGGCCGCTCAGCCTGGACGGTGCGGATTCCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCGCCGCCGCACCATAGCCAGGGCTTCAGCGTGGACAACATCATGACGTCGCTGCGGGGGTCGCCGCAGAGCGCGGCCGCGGAGCTCAGCTCCGGCCTTCTGGCCTCGGCGGCCGCGTCCTCGCGCGCGGGGATCGCACCCCCGCTGGCGCTCGGCGCCTACTCGCCCGGCCAGAGCTCCCTCTACAGCTCCCCCTGCAGCCAGACCTCCAGCGCGGGCAGCTCGGGCGGCGGCGGCGGCGGCGCGGGGGCCGCGGGGGGCGCGGGCGGCGCCGGGACCTACCACTGCAACCTGCAAGCCATGAGCCTGTACGCGGCCGGCGAGCGCGGGGGCCACTTGCAGGGCGCGCCCGGGGGCGCGGGCGGCTCGGCCGTGGACGACCCCCTGCCCGACTACTCTCTGCCTCCGGTCACCAGCAGCAGCTCGTCGTCCCTGAGTCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCCAGGAGGCCGGCCACCACCCTGCGGCCCACCAAGGCCGCCTCACCTCGTGGTACCTGAACCAGGCGGGCGGAGACCTGGGCCACTTGGCGAGCGCGGCGGCGGCGGCGGCGGCCGCAGGCTACCCGGGCCAGCAGCAGAACTTCCACTCGGTGCGGGAGATGTTCGAGTCACAGAGGATCGGCTTGAACAACTCTCCAGTGAACGGGAATAGTAGCTGTCAAATGGCCTTCCCTTCCAGCCAGTCTCTGTACCGCACGTCCGGAGCTTTCGTCTACGACTGTAGCAAGTTTTGACACACCCTCAAAGCCGAACTAAATCGAACCCCAAAGCAGGAAAAGCTAAAGGAACCCATCAAGGCAAAATCGAAACTAAAAAAAAAAAATCCAATTAAAAAAAACCCCTGAGAATATTCACCACACCAGCGAACAGAATATCCCTCCAAAAATTCAGCTCACCAGCACCAGCACGAAGAAAACTCTATTTTCTTAACCGATTAATTCAGAGCCACCTCCACTTTGCCTTGTCTAAATAAACAAACCCGTAAACTGTTTTATACAGAGACAGCAAAATCTTGGTTTATTAAAGGACAGTGTTACTCCAGATAACACGTAAGTTTCTTCTTGCTTTTCAGAGACCTGCTTTCCCCTCCTCCCGTCTCCCCTCTCTTGCCTTCTTCCTTGCCTCTCACCTGTAAGATATTATTTTATCCTATGTTGAAGGGAGGGGGAAAGTCCCCGTTTATGAAAGTCGCTTTCTTTTTATTCATGGACTTGTTTTAAAATGTAAATTGCAACATAGTAATTTATTTTTAATTTGTAGTTGGATGTCGTGGACCAAACGCCAGAAAGTGTTCCCAAAACCTGACGTTAAATTGCCTGAAACTTTAAATTGTGCTTTTTTTCTCATTATAAAAAGGGAAACTGTATTAATCTTATTCTATCCTCTTTTCTTTCTTTTTGTTGAACATATTCATTGTTTGTTTATTAATAAATTACCATTCAGTTTGAATGAGACCTATATGTCTGGATACTTTAATAGAGCTTTAATTATTACGAAAAAAGATTTCAGAG
Task1_train_9945
Consider a variant on Chromosome 6 in gene FOXC1 (forkhead box C1). Determine its clinical classification and disease relevance.
Pathogenic; Axenfeld-Rieger syndrome type 3
TGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCCCCCCGGGGAGGGGGGCGAGAAGCAGGGCGGCCCGCAGCGGGGCGGGCTCATCCTTCGCGGGTGAACGGCCGTCGGAAACTCCCAGCAGGGCCCCGCACCCCTTGCCTTCATTTCGGCTGGGGAGGGGTCATGGAGGGGGGCCAGATGGGCGACGAACCTTCTTCCCCACCGCGAGCAGGGCCTGGCTGTGACCGAGCCCTCAAAATCATGTCCTTTGTAGCCGAGTTCAGGACAGGAGAACCTCCAAGTGGAGAAAAGCCGGAGACGTCAGTGACCCGAGTGAGACTGGCGTTGGAGAAGGGAGGGAAGGGGCTGCGGGAGGGGAGAGGCGGCGGGGAGGAGAGGCTGGGGCAACCCCAGCGCTGGCGTCGGCGGGGCTGGCGAAGGAATGAGAGCGAGCCAGCACGAGGCGGGGCGGAGACGCCAGGGCCACTCGGGAGCCGTGGGCGAAGGAAGGGTCTGCACGGGGTCCCGGGAGGACCCAGGAAGTCTGCGCGAACGGCGGGCGTGGGTCCGGAGGGCCCGGGGTGGGAGGTCTGCCGGGCGCCGGCGGCAGGCAGGTGGACTGCGGGGGGCGAACCGACGGCGGGCCGGGCGCCGGCGCGGGCGCAGGGCCGGGGCCCGGGCCAGGGCGGCCGGCGCGCGTGTGGTCAGCCCCGCGGTCCTCCGGCCTCCGGGAGCGGGCCGGCAGGGCTCGGCCTCCGGCTCATTCGGAGGCGGTTCTCACCTCCCATTGGCTGCCGCCGCTGGCGGGGCGGGGCTCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCGCCGGCAGCTCAGGGCAGAGTCTCCTGGAAGGCGCAGGCAGTGTGGCGAGAAGGGCGCCTGCTTGTTCTTTCTTTTTGTCTGCTTTCCCCCGTTTGCGCCTGGAAGCTGCGCCGCGAGTTCCTGCAAGGCGGTCTGCCGCGGCCGGGCCCGGCCTTCTCCCCTCGCAGCGACCCCGCCTCGCGGCCGCGCGGGCCCCGAGGTAGCCCGAGGCGCCGGAGGAGCCAGCCCCAGCGAGCGCCGGGAGAGGCGGCAGCGCAGCCGGACGCACAGCGCAGCGGGCCGGCACCAGCTCGGCCGGGCCCGGACTCGGACTCGGCGGCCGGCGCGGCGCGGCCCGGCCCGAGCGAGGGTGGGGGGCGGCGGGCGGCGCGGGGCGGCGGCGAGCGGGGGCCATGCAGGCGCGCTACTCCGTGTCCAGCCCCAACTCCCTGGGAGTGGTGCCCTACCTCGGCGGCGAGCAGAGCTACTACCGCGCGGCGGCCGCGGCGGCCGGGGGCGGCTACACCGCCATGCCGGCCCCCATGAGCGTGTACTCGCACCCTGCGCACGCCGAGCAGTACCCGGGCGGCATGGCCCGCGCCTACGGGCCCTACACGCCGCAGCCGCAGCCCAAGGACATGGTGAAGCCGCCCTATAGCTACATCGCGCTCATCACCATGGCCATCCAGAACGCCCCGGACAAGAAGATCACCCTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGACAACAAGCAGGGCTGGCAGAACAGCATCCGCCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCGCGCGACGACAAGAAGCCGGGCAAGGGCAGCTACTGGACGCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGGCGGCGGCGCTTCAAGAAGAAGGACGCGGTGAAGGACAAGGAGGAGAAGGACAGGCTGCACCTCAAGGAGCCGCCCCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACGCGCCCGGTCCGCAGCCGCCGCCCGTGCGCATCCAGGACATCAAGACCGAGAACGGTACGTGCCCCTCGCCGCCCCAGCCCCTGTCCCCGGCCGCCGCCCTGGGCAGCGGCAGCGCCGCCGCGGTGCCCAAGATCGAGAGCCCCGACAGCAGCAGCAGCAGCCTGTCCAGCGGGAGCAGCCCCCCGGGCAGCCTGCCGTCGGCGCGGCCGCTCAGCCTGGACGGTGCGGATTCCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCGCCGCCGCACCATAGCCAGGGCTTCAGCGTGGACAACATCATGACGTCGCTGCGGGGGTCGCCGCAGAGCGCGGCCGCGGAGCTCAGCTCCGGCCTTCTGGCCTCGGCGGCCGCGTCCTCGCGCGCGGGGATCGCACCCCCGCTGGCGCTCGGCGCCTACTCGCCCGGCCAGAGCTCCCTCTACAGCTCCCCCTGCAGCCAGACCTCCAGCGCGGGCAGCTCGGGCGGCGGCGGCGGCGGCGCGGGGGCCGCGGGGGGCGCGGGCGGCGCCGGGACCTACCACTGCAACCTGCAAGCCATGAGCCTGTACGCGGCCGGCGAGCGCGGGGGCCACTTGCAGGGCGCGCCCGGGGGCGCGGGCGGCTCGGCCGTGGACGACCCCCTGCCCGACTACTCTCTGCCTCCGGTCACCAGCAGCAGCTCGTCGTCCCTGAGTCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCCAGGAGGCCGGCCACCACCCTGCGGCCCACCAAGGCCGCCTCACCTCGTGGTACCTGAACCAGGCGGGCGGAGACCTGGGCCACTTGGCGAGCGCGGCGGCGGCGGCGGCGGCCGCAGGCTACCCGGGCCAGCAGCAGAACTTCCACTCGGTGCGGGAGATGTTCGAGTCACAGAGGATCGGCTTGAACAACTCTCCAGTGAACGGGAATAGTAGCTGTCAAATGGCCTTCCCTTCCAGCCAGTCTCTGTACCGCACGTCCGGAGCTTTCGTCTACGACTGTAGCAAGTTTTGACACACCCTCAAAGCCGAACTAAATCGAACCCCAAAGCAGGAAAAGCTAAAGGAACCCATCAAGGCAAAATCGAAACTAAAAAAAAAAAATCCAATTAAAAAAAACCCCTGAGAATATTCACCACACCAGCGAACAGAATATCCCTCCAAAAATTCAGCTCACCAGCACCAGCACGAAGAAAACTCTATTTTCTTAACCGATTAATTCAGAGCCACCTCCACTTTGCCTTGTCTAAATAAACAAACCCGTAAACTGTTTTATACAGAGACAGCAAAATCTTGGTTTATTAAAGGACAGTGTTACTCCAGATAACACGTAAGTTTCTTCTTGCTTTTCAGAGACCTGCTTTCCCCTCCTCCCGTCTCCCCTCTCTTGCCTTCTTCCTTGCCTCTCACCTGTAAGATATTATTTTATCCTATGTTGAAGGGAGGGGGAAAGTCCCCGTTTATGAAAGTCGCTTTCTTTTTATTCATGGACTTGTTTTAAAATGTAAATTGCAACATAGTAATTTATTTTTAATTTGTAGTTGGATGTCGTGGACCAAACGCCAGAAAGTGTTCCCAAAACCTGACGTTAAATTGCCTGAAACTTTAAATTGTGCTTTTTTTCTCATTATAAAAAGGGAAACTGTATTAATCTTATTCTATCCTCTTTTCTTTCTTTTTGTTGAACATATTCATTGTTTGTTTATTAATAAATTACCATTCAGTTTGAATGAGACCTATATGTCTGGATACTTTAATAGAGCTTTAATTATTACGAAAAAAGATTTCAGAG
TGGACGTTCCCCCAGACACACCCGTTGTCTCTGCGAGCCGGCAGCCCCGCGCATGTGGAGATGGAGACTGGCCTGGGGAAGCGTTAAGCTCTTAGACATATTTATTTGCTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCCCCCCGGGGAGGGGGGCGAGAAGCAGGGCGGCCCGCAGCGGGGCGGGCTCATCCTTCGCGGGTGAACGGCCGTCGGAAACTCCCAGCAGGGCCCCGCACCCCTTGCCTTCATTTCGGCTGGGGAGGGGTCATGGAGGGGGGCCAGATGGGCGACGAACCTTCTTCCCCACCGCGAGCAGGGCCTGGCTGTGACCGAGCCCTCAAAATCATGTCCTTTGTAGCCGAGTTCAGGACAGGAGAACCTCCAAGTGGAGAAAAGCCGGAGACGTCAGTGACCCGAGTGAGACTGGCGTTGGAGAAGGGAGGGAAGGGGCTGCGGGAGGGGAGAGGCGGCGGGGAGGAGAGGCTGGGGCAACCCCAGCGCTGGCGTCGGCGGGGCTGGCGAAGGAATGAGAGCGAGCCAGCACGAGGCGGGGCGGAGACGCCAGGGCCACTCGGGAGCCGTGGGCGAAGGAAGGGTCTGCACGGGGTCCCGGGAGGACCCAGGAAGTCTGCGCGAACGGCGGGCGTGGGTCCGGAGGGCCCGGGGTGGGAGGTCTGCCGGGCGCCGGCGGCAGGCAGGTGGACTGCGGGGGGCGAACCGACGGCGGGCCGGGCGCCGGCGCGGGCGCAGGGCCGGGGCCCGGGCCAGGGCGGCCGGCGCGCGTGTGGTCAGCCCCGCGGTCCTCCGGCCTCCGGGAGCGGGCCGGCAGGGCTCGGCCTCCGGCTCATTCGGAGGCGGTTCTCACCTCCCATTGGCTGCCGCCGCTGGCGGGGCGGGGCTCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCGCCGGCAGCTCAGGGCAGAGTCTCCTGGAAGGCGCAGGCAGTGTGGCGAGAAGGGCGCCTGCTTGTTCTTTCTTTTTGTCTGCTTTCCCCCGTTTGCGCCTGGAAGCTGCGCCGCGAGTTCCTGCAAGGCGGTCTGCCGCGGCCGGGCCCGGCCTTCTCCCCTCGCAGCGACCCCGCCTCGCGGCCGCGCGGGCCCCGAGGTAGCCCGAGGCGCCGGAGGAGCCAGCCCCAGCGAGCGCCGGGAGAGGCGGCAGCGCAGCCGGACGCACAGCGCAGCGGGCCGGCACCAGCTCGGCCGGGCCCGGACTCGGACTCGGCGGCCGGCGCGGCGCGGCCCGGCCCGAGCGAGGGTGGGGGGCGGCGGGCGGCGCGGGGCGGCGGCGAGCGGGGGCCATGCAGGCGCGCTACTCCGTGTCCAGCCCCAACTCCCTGGGAGTGGTGCCCTACCTCGGCGGCGAGCAGAGCTACTACCGCGCGGCGGCCGCGGCGGCCGGGGGCGGCTACACCGCCATGCCGGCCCCCATGAGCGTGTACTCGCACCCTGCGCACGCCGAGCAGTACCCGGGCGGCATGGCCCGCGCCTACGGGCCCTACACGCCGCAGCCGCAGCCCAAGGACATGGTGAAGCCGCCCTATAGCTACATCGCGCTCATCACCATGGCCATCCAGAACGCCCCGGACAAGAAGATCACCCTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGACAACAAGCAGGGCTGGCAGAACAGCATCCGCCACAACCTCTTGCTCAACGAGTGCTTCGTCAAGGTGCCGCGCGACGACAAGAAGCCGGGCAAGGGCAGCTACTGGACGCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGGCGGCGGCGCTTCAAGAAGAAGGACGCGGTGAAGGACAAGGAGGAGAAGGACAGGCTGCACCTCAAGGAGCCGCCCCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACGCGCCCGGTCCGCAGCCGCCGCCCGTGCGCATCCAGGACATCAAGACCGAGAACGGTACGTGCCCCTCGCCGCCCCAGCCCCTGTCCCCGGCCGCCGCCCTGGGCAGCGGCAGCGCCGCCGCGGTGCCCAAGATCGAGAGCCCCGACAGCAGCAGCAGCAGCCTGTCCAGCGGGAGCAGCCCCCCGGGCAGCCTGCCGTCGGCGCGGCCGCTCAGCCTGGACGGTGCGGATTCCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCGCCGCCGCACCATAGCCAGGGCTTCAGCGTGGACAACATCATGACGTCGCTGCGGGGGTCGCCGCAGAGCGCGGCCGCGGAGCTCAGCTCCGGCCTTCTGGCCTCGGCGGCCGCGTCCTCGCGCGCGGGGATCGCACCCCCGCTGGCGCTCGGCGCCTACTCGCCCGGCCAGAGCTCCCTCTACAGCTCCCCCTGCAGCCAGACCTCCAGCGCGGGCAGCTCGGGCGGCGGCGGCGGCGGCGCGGGGGCCGCGGGGGGCGCGGGCGGCGCCGGGACCTACCACTGCAACCTGCAAGCCATGAGCCTGTACGCGGCCGGCGAGCGCGGGGGCCACTTGCAGGGCGCGCCCGGGGGCGCGGGCGGCTCGGCCGTGGACGACCCCCTGCCCGACTACTCTCTGCCTCCGGTCACCAGCAGCAGCTCGTCGTCCCTGAGTCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCCAGGAGGCCGGCCACCACCCTGCGGCCCACCAAGGCCGCCTCACCTCGTGGTACCTGAACCAGGCGGGCGGAGACCTGGGCCACTTGGCGAGCGCGGCGGCGGCGGCGGCGGCCGCAGGCTACCCGGGCCAGCAGCAGAACTTCCACTCGGTGCGGGAGATGTTCGAGTCACAGAGGATCGGCTTGAACAACTCTCCAGTGAACGGGAATAGTAGCTGTCAAATGGCCTTCCCTTCCAGCCAGTCTCTGTACCGCACGTCCGGAGCTTTCGTCTACGACTGTAGCAAGTTTTGACACACCCTCAAAGCCGAACTAAATCGAACCCCAAAGCAGGAAAAGCTAAAGGAACCCATCAAGGCAAAATCGAAACTAAAAAAAAAAAATCCAATTAAAAAAAACCCCTGAGAATATTCACCACACCAGCGAACAGAATATCCCTCCAAAAATTCAGCTCACCAGCACCAGCACGAAGAAAACTCTATTTTCTTAACCGATTAATTCAGAGCCACCTCCACTTTGCCTTGTCTAAATAAACAAACCCGTAAACTGTTTTATACAGAGACAGCAAAATCTTGGTTTATTAAAGGACAGTGTTACTCCAGATAACACGTAAGTTTCTTCTTGCTTTTCAGAGACCTGCTTTCCCCTCCTCCCGTCTCCCCTCTCTTGCCTTCTTCCTTGCCTCTCACCTGTAAGATATTATTTTATCCTATGTTGAAGGGAGGGGGAAAGTCCCCGTTTATGAAAGTCGCTTTCTTTTTATTCATGGACTTGTTTTAAAATGTAAATTGCAACATAGTAATTTATTTTTAATTTGTAGTTGGATGTCGTGGACCAAACGCCAGAAAGTGTTCCCAAAACCTGACGTTAAATTGCCTGAAACTTTAAATTGTGCTTTTTTTCTCATTATAAAAAGGGAAACTGTATTAATCTTATTCTATCCTCTTTTCTTTCTTTTTGTTGAACATATTCATTGTTTGTTTATTAATAAATTACCATTCAGTTTGAATGAGACCTATATGTCTGGATACTTTAATAGAGCTTTAATTATTACGAAAAAAGATTTCAGAG
Task1_train_9946
This variant affects gene FOXC1 (forkhead box C1) located on Chromosome 6. Evaluate its biological effect and specify any disease association.
Pathogenic; Axenfeld-Rieger syndrome type 3
CATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCCCCCCGGGGAGGGGGGCGAGAAGCAGGGCGGCCCGCAGCGGGGCGGGCTCATCCTTCGCGGGTGAACGGCCGTCGGAAACTCCCAGCAGGGCCCCGCACCCCTTGCCTTCATTTCGGCTGGGGAGGGGTCATGGAGGGGGGCCAGATGGGCGACGAACCTTCTTCCCCACCGCGAGCAGGGCCTGGCTGTGACCGAGCCCTCAAAATCATGTCCTTTGTAGCCGAGTTCAGGACAGGAGAACCTCCAAGTGGAGAAAAGCCGGAGACGTCAGTGACCCGAGTGAGACTGGCGTTGGAGAAGGGAGGGAAGGGGCTGCGGGAGGGGAGAGGCGGCGGGGAGGAGAGGCTGGGGCAACCCCAGCGCTGGCGTCGGCGGGGCTGGCGAAGGAATGAGAGCGAGCCAGCACGAGGCGGGGCGGAGACGCCAGGGCCACTCGGGAGCCGTGGGCGAAGGAAGGGTCTGCACGGGGTCCCGGGAGGACCCAGGAAGTCTGCGCGAACGGCGGGCGTGGGTCCGGAGGGCCCGGGGTGGGAGGTCTGCCGGGCGCCGGCGGCAGGCAGGTGGACTGCGGGGGGCGAACCGACGGCGGGCCGGGCGCCGGCGCGGGCGCAGGGCCGGGGCCCGGGCCAGGGCGGCCGGCGCGCGTGTGGTCAGCCCCGCGGTCCTCCGGCCTCCGGGAGCGGGCCGGCAGGGCTCGGCCTCCGGCTCATTCGGAGGCGGTTCTCACCTCCCATTGGCTGCCGCCGCTGGCGGGGCGGGGCTCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCGCCGGCAGCTCAGGGCAGAGTCTCCTGGAAGGCGCAGGCAGTGTGGCGAGAAGGGCGCCTGCTTGTTCTTTCTTTTTGTCTGCTTTCCCCCGTTTGCGCCTGGAAGCTGCGCCGCGAGTTCCTGCAAGGCGGTCTGCCGCGGCCGGGCCCGGCCTTCTCCCCTCGCAGCGACCCCGCCTCGCGGCCGCGCGGGCCCCGAGGTAGCCCGAGGCGCCGGAGGAGCCAGCCCCAGCGAGCGCCGGGAGAGGCGGCAGCGCAGCCGGACGCACAGCGCAGCGGGCCGGCACCAGCTCGGCCGGGCCCGGACTCGGACTCGGCGGCCGGCGCGGCGCGGCCCGGCCCGAGCGAGGGTGGGGGGCGGCGGGCGGCGCGGGGCGGCGGCGAGCGGGGGCCATGCAGGCGCGCTACTCCGTGTCCAGCCCCAACTCCCTGGGAGTGGTGCCCTACCTCGGCGGCGAGCAGAGCTACTACCGCGCGGCGGCCGCGGCGGCCGGGGGCGGCTACACCGCCATGCCGGCCCCCATGAGCGTGTACTCGCACCCTGCGCACGCCGAGCAGTACCCGGGCGGCATGGCCCGCGCCTACGGGCCCTACACGCCGCAGCCGCAGCCCAAGGACATGGTGAAGCCGCCCTATAGCTACATCGCGCTCATCACCATGGCCATCCAGAACGCCCCGGACAAGAAGATCACCCTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGACAACAAGCAGGGCTGGCAGAACAGCATCCGCCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCGCGCGACGACAAGAAGCCGGGCAAGGGCAGCTACTGGACGCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGGCGGCGGCGCTTCAAGAAGAAGGACGCGGTGAAGGACAAGGAGGAGAAGGACAGGCTGCACCTCAAGGAGCCGCCCCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACGCGCCCGGTCCGCAGCCGCCGCCCGTGCGCATCCAGGACATCAAGACCGAGAACGGTACGTGCCCCTCGCCGCCCCAGCCCCTGTCCCCGGCCGCCGCCCTGGGCAGCGGCAGCGCCGCCGCGGTGCCCAAGATCGAGAGCCCCGACAGCAGCAGCAGCAGCCTGTCCAGCGGGAGCAGCCCCCCGGGCAGCCTGCCGTCGGCGCGGCCGCTCAGCCTGGACGGTGCGGATTCCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCGCCGCCGCACCATAGCCAGGGCTTCAGCGTGGACAACATCATGACGTCGCTGCGGGGGTCGCCGCAGAGCGCGGCCGCGGAGCTCAGCTCCGGCCTTCTGGCCTCGGCGGCCGCGTCCTCGCGCGCGGGGATCGCACCCCCGCTGGCGCTCGGCGCCTACTCGCCCGGCCAGAGCTCCCTCTACAGCTCCCCCTGCAGCCAGACCTCCAGCGCGGGCAGCTCGGGCGGCGGCGGCGGCGGCGCGGGGGCCGCGGGGGGCGCGGGCGGCGCCGGGACCTACCACTGCAACCTGCAAGCCATGAGCCTGTACGCGGCCGGCGAGCGCGGGGGCCACTTGCAGGGCGCGCCCGGGGGCGCGGGCGGCTCGGCCGTGGACGACCCCCTGCCCGACTACTCTCTGCCTCCGGTCACCAGCAGCAGCTCGTCGTCCCTGAGTCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCCAGGAGGCCGGCCACCACCCTGCGGCCCACCAAGGCCGCCTCACCTCGTGGTACCTGAACCAGGCGGGCGGAGACCTGGGCCACTTGGCGAGCGCGGCGGCGGCGGCGGCGGCCGCAGGCTACCCGGGCCAGCAGCAGAACTTCCACTCGGTGCGGGAGATGTTCGAGTCACAGAGGATCGGCTTGAACAACTCTCCAGTGAACGGGAATAGTAGCTGTCAAATGGCCTTCCCTTCCAGCCAGTCTCTGTACCGCACGTCCGGAGCTTTCGTCTACGACTGTAGCAAGTTTTGACACACCCTCAAAGCCGAACTAAATCGAACCCCAAAGCAGGAAAAGCTAAAGGAACCCATCAAGGCAAAATCGAAACTAAAAAAAAAAAATCCAATTAAAAAAAACCCCTGAGAATATTCACCACACCAGCGAACAGAATATCCCTCCAAAAATTCAGCTCACCAGCACCAGCACGAAGAAAACTCTATTTTCTTAACCGATTAATTCAGAGCCACCTCCACTTTGCCTTGTCTAAATAAACAAACCCGTAAACTGTTTTATACAGAGACAGCAAAATCTTGGTTTATTAAAGGACAGTGTTACTCCAGATAACACGTAAGTTTCTTCTTGCTTTTCAGAGACCTGCTTTCCCCTCCTCCCGTCTCCCCTCTCTTGCCTTCTTCCTTGCCTCTCACCTGTAAGATATTATTTTATCCTATGTTGAAGGGAGGGGGAAAGTCCCCGTTTATGAAAGTCGCTTTCTTTTTATTCATGGACTTGTTTTAAAATGTAAATTGCAACATAGTAATTTATTTTTAATTTGTAGTTGGATGTCGTGGACCAAACGCCAGAAAGTGTTCCCAAAACCTGACGTTAAATTGCCTGAAACTTTAAATTGTGCTTTTTTTCTCATTATAAAAAGGGAAACTGTATTAATCTTATTCTATCCTCTTTTCTTTCTTTTTGTTGAACATATTCATTGTTTGTTTATTAATAAATTACCATTCAGTTTGAATGAGACCTATATGTCTGGATACTTTAATAGAGCTTTAATTATTACGAAAAAAGATTTCAGAGATAAAACACTAGAAGTTACCTATTCTCCACCTAAATCTCTGAAAAATGGAGAAACCCTCTGACTAGTCCATGTCAAATTTTACTAAAAGTCTTTTTGTTTAGATTTATTTTCCTGC
CATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCCCCCCGGGGAGGGGGGCGAGAAGCAGGGCGGCCCGCAGCGGGGCGGGCTCATCCTTCGCGGGTGAACGGCCGTCGGAAACTCCCAGCAGGGCCCCGCACCCCTTGCCTTCATTTCGGCTGGGGAGGGGTCATGGAGGGGGGCCAGATGGGCGACGAACCTTCTTCCCCACCGCGAGCAGGGCCTGGCTGTGACCGAGCCCTCAAAATCATGTCCTTTGTAGCCGAGTTCAGGACAGGAGAACCTCCAAGTGGAGAAAAGCCGGAGACGTCAGTGACCCGAGTGAGACTGGCGTTGGAGAAGGGAGGGAAGGGGCTGCGGGAGGGGAGAGGCGGCGGGGAGGAGAGGCTGGGGCAACCCCAGCGCTGGCGTCGGCGGGGCTGGCGAAGGAATGAGAGCGAGCCAGCACGAGGCGGGGCGGAGACGCCAGGGCCACTCGGGAGCCGTGGGCGAAGGAAGGGTCTGCACGGGGTCCCGGGAGGACCCAGGAAGTCTGCGCGAACGGCGGGCGTGGGTCCGGAGGGCCCGGGGTGGGAGGTCTGCCGGGCGCCGGCGGCAGGCAGGTGGACTGCGGGGGGCGAACCGACGGCGGGCCGGGCGCCGGCGCGGGCGCAGGGCCGGGGCCCGGGCCAGGGCGGCCGGCGCGCGTGTGGTCAGCCCCGCGGTCCTCCGGCCTCCGGGAGCGGGCCGGCAGGGCTCGGCCTCCGGCTCATTCGGAGGCGGTTCTCACCTCCCATTGGCTGCCGCCGCTGGCGGGGCGGGGCTCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCGCCGGCAGCTCAGGGCAGAGTCTCCTGGAAGGCGCAGGCAGTGTGGCGAGAAGGGCGCCTGCTTGTTCTTTCTTTTTGTCTGCTTTCCCCCGTTTGCGCCTGGAAGCTGCGCCGCGAGTTCCTGCAAGGCGGTCTGCCGCGGCCGGGCCCGGCCTTCTCCCCTCGCAGCGACCCCGCCTCGCGGCCGCGCGGGCCCCGAGGTAGCCCGAGGCGCCGGAGGAGCCAGCCCCAGCGAGCGCCGGGAGAGGCGGCAGCGCAGCCGGACGCACAGCGCAGCGGGCCGGCACCAGCTCGGCCGGGCCCGGACTCGGACTCGGCGGCCGGCGCGGCGCGGCCCGGCCCGAGCGAGGGTGGGGGGCGGCGGGCGGCGCGGGGCGGCGGCGAGCGGGGGCCATGCAGGCGCGCTACTCCGTGTCCAGCCCCAACTCCCTGGGAGTGGTGCCCTACCTCGGCGGCGAGCAGAGCTACTACCGCGCGGCGGCCGCGGCGGCCGGGGGCGGCTACACCGCCATGCCGGCCCCCATGAGCGTGTACTCGCACCCTGCGCACGCCGAGCAGTACCCGGGCGGCATGGCCCGCGCCTACGGGCCCTACACGCCGCAGCCGCAGCCCAAGGACATGGTGAAGCCGCCCTATAGCTACATCGCGCTCATCACCATGGCCATCCAGAACGCCCCGGACAAGAAGATCACCCTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGACAACAAGCAGGGCTGGCAGAACAGCATCCGCCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCGCGCGACGACAAGAAGCCGGGCAAGGGCAGCTACTGGACGCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGTGGCGGCGGCGCTTCAAGAAGAAGGACGCGGTGAAGGACAAGGAGGAGAAGGACAGGCTGCACCTCAAGGAGCCGCCCCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACGCGCCCGGTCCGCAGCCGCCGCCCGTGCGCATCCAGGACATCAAGACCGAGAACGGTACGTGCCCCTCGCCGCCCCAGCCCCTGTCCCCGGCCGCCGCCCTGGGCAGCGGCAGCGCCGCCGCGGTGCCCAAGATCGAGAGCCCCGACAGCAGCAGCAGCAGCCTGTCCAGCGGGAGCAGCCCCCCGGGCAGCCTGCCGTCGGCGCGGCCGCTCAGCCTGGACGGTGCGGATTCCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCGCCGCCGCACCATAGCCAGGGCTTCAGCGTGGACAACATCATGACGTCGCTGCGGGGGTCGCCGCAGAGCGCGGCCGCGGAGCTCAGCTCCGGCCTTCTGGCCTCGGCGGCCGCGTCCTCGCGCGCGGGGATCGCACCCCCGCTGGCGCTCGGCGCCTACTCGCCCGGCCAGAGCTCCCTCTACAGCTCCCCCTGCAGCCAGACCTCCAGCGCGGGCAGCTCGGGCGGCGGCGGCGGCGGCGCGGGGGCCGCGGGGGGCGCGGGCGGCGCCGGGACCTACCACTGCAACCTGCAAGCCATGAGCCTGTACGCGGCCGGCGAGCGCGGGGGCCACTTGCAGGGCGCGCCCGGGGGCGCGGGCGGCTCGGCCGTGGACGACCCCCTGCCCGACTACTCTCTGCCTCCGGTCACCAGCAGCAGCTCGTCGTCCCTGAGTCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCCAGGAGGCCGGCCACCACCCTGCGGCCCACCAAGGCCGCCTCACCTCGTGGTACCTGAACCAGGCGGGCGGAGACCTGGGCCACTTGGCGAGCGCGGCGGCGGCGGCGGCGGCCGCAGGCTACCCGGGCCAGCAGCAGAACTTCCACTCGGTGCGGGAGATGTTCGAGTCACAGAGGATCGGCTTGAACAACTCTCCAGTGAACGGGAATAGTAGCTGTCAAATGGCCTTCCCTTCCAGCCAGTCTCTGTACCGCACGTCCGGAGCTTTCGTCTACGACTGTAGCAAGTTTTGACACACCCTCAAAGCCGAACTAAATCGAACCCCAAAGCAGGAAAAGCTAAAGGAACCCATCAAGGCAAAATCGAAACTAAAAAAAAAAAATCCAATTAAAAAAAACCCCTGAGAATATTCACCACACCAGCGAACAGAATATCCCTCCAAAAATTCAGCTCACCAGCACCAGCACGAAGAAAACTCTATTTTCTTAACCGATTAATTCAGAGCCACCTCCACTTTGCCTTGTCTAAATAAACAAACCCGTAAACTGTTTTATACAGAGACAGCAAAATCTTGGTTTATTAAAGGACAGTGTTACTCCAGATAACACGTAAGTTTCTTCTTGCTTTTCAGAGACCTGCTTTCCCCTCCTCCCGTCTCCCCTCTCTTGCCTTCTTCCTTGCCTCTCACCTGTAAGATATTATTTTATCCTATGTTGAAGGGAGGGGGAAAGTCCCCGTTTATGAAAGTCGCTTTCTTTTTATTCATGGACTTGTTTTAAAATGTAAATTGCAACATAGTAATTTATTTTTAATTTGTAGTTGGATGTCGTGGACCAAACGCCAGAAAGTGTTCCCAAAACCTGACGTTAAATTGCCTGAAACTTTAAATTGTGCTTTTTTTCTCATTATAAAAAGGGAAACTGTATTAATCTTATTCTATCCTCTTTTCTTTCTTTTTGTTGAACATATTCATTGTTTGTTTATTAATAAATTACCATTCAGTTTGAATGAGACCTATATGTCTGGATACTTTAATAGAGCTTTAATTATTACGAAAAAAGATTTCAGAGATAAAACACTAGAAGTTACCTATTCTCCACCTAAATCTCTGAAAAATGGAGAAACCCTCTGACTAGTCCATGTCAAATTTTACTAAAAGTCTTTTTGTTTAGATTTATTTTCCTGC
Task1_train_9947
This variant affects the gene RIPK1 (receptor interacting serine/threonine kinase 1) found on Chromosome 6. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; not provided
CATGATGCCACAAGTGGAAAATACCACACCTGACACCTCTGCTTTCTGATAGTTCAGTATCCTCAAACTTTGTTTCATGCACAAAATTATTAAAATATGGTATAAAGTGACCTTCAGGCTATGTGTATAAGGTGCATATGAAACACAAATAAACTTCATGTTTAGACTTAGGTCCTCTCCCCACGATCTGTCATTCTGTACATGCAAATATTCCCAAATTGGAAACAATCCAAAATCCAAAACACTTCTAATCCCAAGCATTTTGGATAAGGGATACTACACCTGCACCATATTTTGAGTTCCTGCCTTCAGTTCTTTGGGGTATATATATCCGGGTGTGGAATTGCTAGATCATATGGTAATTCTATGTATAACTTTTTGTTTTTCTGAGACAGAGTCTCCCTCTGTTGCCCAGGCTGGAATGCAGTGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCACCTTCCCGAGTAGCTGGGATTACAGGCATACACCACCACGCCCGGCTAGTTTTTTGTATTTTTAGTAGAGATGGGGTGGTTTCACCATGTTGTCCAGGCTGGTCTCAAACTCCTAACCTCAGGTGATCTGAGGTCCCAAAGTGCTGGGATTACAGGCGTGAGCTCCCATGCCCGGCCATGTTTAACTTTTAAGTACTGTTAAAATTGTTTTACATGGTAGCTACACCATTTTATATTCCCCACCAGCAATGCACAAGGATTCTAATTTCTCCACCATCTTACCAACACTTTTTATTTACCATTTTTATATTATAGTCACTCTAAGGAGTGTGAAAGTGTACCTCATGGTGGTTTTGACTTGCATTTCCCTATGACTCATGATGTTGAGCATCTTCATGGCTTATTGGCCATTTGTATATCTTCTATGGAGAAACTGCTATTCAAGTTCTTTGCCCATTTTTGAATTGGGTTGTTTGTTTTTTGTTGTTGAGTTGTAGGATTTTTTTTTTTTATGTTCTGGATTTCATCCGTTTTCAGATATATATTGTTTGCAACTTTTTCCCCATTATTTTATTTTATTTATTTATTTTTTTTTTGGAGACAGAATCTTGCTCTGTCGCCACCCAGACTGGAGTGCAGTGGCAGAATGTTGGTTCACTGCAACCTCTGCCTCCCAGGTTCAAGAGATAACTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACACACCATCATGCCTGGTTAGTTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCTGGCAGGTCTCGAACTCCTGACCTCATGGGATCCACCTGCCTTGGCCTCCCAAAGTATTTTTTCCTTATTCTGTAGGTTATCTTTTTACTCTTTTCATAGTATCCTTTGATGCACAGAAGCTTTTAATTCTGATGTATTATTTTTACTCTTTACTTTTGTTTGTGCTTTTGTGTCATAACCAAGAAATCGCTGCCAAGTCCAATGTCATGAAGCTTTTTCCCTGTGTTTTCTTCTAAGAATTTTTGTGGCACTAGCCCTTAAATTAAGTCTTTGATCCATTGTGAGTTAATTTTTATATGGTATGAAATAAGGGTCCAACTTCATTATTTCATATGTGTATATTCAGTTTTCCCCCATCGAATGCTCTTGGCAACCTTGTCAAAAATCAATTGGCCATTTATAGGAGGGTTTATTCCTAGGCTTTCCATTCTGCCCCACTGGCATATGTGCCTGTCTTTATGCCAGTCCTACGCTGTTTTGAATACTGTAGCTTTGTAGTAAGTTTTGAAATCAGGAAGTGTGAGTCCTACAACCTTGTTCTTTTTAAAGATCATTTTGGCTATTTGGGAAAAACATTAATTTTAAAAAATTACTACTTGTAAGATCTGTGTGAAATTTCTACCTTCTGAAAATATGAATTCTTCTCGTTAAAATTTTCTGGGACTCTATTTCCTGCTGTTCACTAAAGTGTGTATTTATGCTCTTAATTATAGAAAGAGTATTCAAACGAAAATGCAGTTGTGAAGAGAATGCAGTCTCTTCAACTTGATTGTGTGGCAGTACCTTCAAGCCGGTCAAATTCAGGTAAATTACACTATGGTCAAAATCTATTCATTTATTTGTTTGGTTACTCATTCACTCCACTCTCTAAAAGACTATTCAGGACCATATGGGAAACAGAAGAAACTATAAAAGTGAACACCTGCCTTACAGGAATTTATAATAATATTCGAGAGTCAAGTTACATGTATTTGAAATATGAAGTAACAGTGTGCTCACCAGTCATAGAGTGTTCTGAACAAAAGGCCTAATATATCTGATGGGGAGAAGTGACAGTTCAGAAGAAGGAAGGGGACATATGTGAGAGCAAAGTCCCTGAGGAGCTCGGAGTGACTTACAGCCAGGGTACAAGCAGAGAGGCTGGTCTCAGGTCAAGTAGGGATACTTTTTTCACTGTAACAAAAGGGATGGCAGAGTATAGGATACTGAAGCCGCTTAGCTACCTGATCTGTGGCTAATTACTTAACCTCTTCTAAACTTCACTCATCAAATCATAATTGCTCCTCCTCTCATAGGGCTCTTCAAGAATGAAAGAATTCATGGGACATGCTTAGGACAGAGCTGCTGCAGATCTTTTTTTTTTGGAGACAGAGTCTGTCACCCCGGCTGGAGTGCAGTAGTGTGATCTTGGCTCACTACAACCTCCGCCTTTCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGCAGCAGGGATTACAGGCATGCACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGTCCGCCTCAGCCTCCCAACGTGCTAGGATTACAGGCGTGAGCCACCGCACCCAGCCACAGATCTTATTTTCCACCTGAATTGCTCCAAGGAGACAACCACCTTCTCTGCTCCAAACCAAGTCCCTTTTTTCCTTGATCATCCCTGCAACAGCCGCTTTTCTCTTGCTTGCTATAATTTTCCTAGTACTCTCTTACTGCCAGCGAGGAGCTCCTATTATTATTTGTAAAGCTTGTGGGAAGAGGACCATCTCCTAAATGCTTTGGACTGGTCTCGTACTTGTTTTCTGTGTGTTACTTTGAGATACAGATTCATGACGGCGCTCAGATTTTATTTTACTTTTTAATGTTTCATGACACCCATTCTAATGTTGATCATTTCTTCTCAGCCACAGAACAGCCTGGTTCACTGCACAGTTCCCAGGGACTTGGGATGGGTCCTGTGGAGGAGTCCTGGTTTGCTCCTTCCCTGGAGCACCCACAAGAAGAGAATGAGCCCAGCCTGCAGAGTAAACTCCAAGACGAAGCCAACTACCATCTTTATGGCAGCCGCATGGACAGGCAGACGAAACAGCAGCCCAGACAGAATGTGGCTTACAACAGAGAGGAGGAAAGGAGACGCAGGGTCTCCCATGACCCTTTTGCACAGCAAAGACCTTACGAGAATTTTCAGAATACAGAGGGAAAAGGCACTGCTTATTCCAGTGCAGCCAGTCATGGTAATGCAGTGCACCAGCCCTCAGGGCTCACCAGCCAACCTCAAGTACTGTATCAGAACAATGGATTATATAGCTCACATGGCTTTGGAACAAGACCACTGGATCCAGGAACAGCAGGTCCCAGAGTTTGGTACAGGCCAATTCCAAGTCATATGCCTAGTCTGCATAATATCCCAGTGCCTGAGACCAACTATCTAGGAAATACACCCACCATGCCATTCAGCTCCTTGCCACCAACAGGTAAATGGGTCTTCGATAGTCACAAGCTTGTCTTTTTTTATTTTTCAGAAAATACAGCAACCAAGCAGCTCTATTATAGATTGTGGGTTATAATGGGGACAGAGGGCATCATCAGCTGCCAGATGCAAATTGCCCCTGTGGAATGGACCCTGCCAAACCACTTGGTCTGGGAGTATTTCATCTGGGGCTAGGATTCATCACAGATGCCCGCAAGCATCGGGTTACAGGTCCTTGTGACTGGCAGGCATCTTTGACTCTAACCTGGAGTGCATAGT
CATGATGCCACAAGTGGAAAATACCACACCTGACACCTCTGCTTTCTGATAGTTCAGTATCCTCAAACTTTGTTTCATGCACAAAATTATTAAAATATGGTATAAAGTGACCTTCAGGCTATGTGTATAAGGTGCATATGAAACACAAATAAACTTCATGTTTAGACTTAGGTCCTCTCCCCACGATCTGTCATTCTGTACATGCAAATATTCCCAAATTGGAAACAATCCAAAATCCAAAACACTTCTAATCCCAAGCATTTTGGATAAGGGATACTACACCTGCACCATATTTTGAGTTCCTGCCTTCAGTTCTTTGGGGTATATATATCCGGGTGTGGAATTGCTAGATCATATGGTAATTCTATGTATAACTTTTTGTTTTTCTGAGACAGAGTCTCCCTCTGTTGCCCAGGCTGGAATGCAGTGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCACCTTCCCGAGTAGCTGGGATTACAGGCATACACCACCACGCCCGGCTAGTTTTTTGTATTTTTAGTAGAGATGGGGTGGTTTCACCATGTTGTCCAGGCTGGTCTCAAACTCCTAACCTCAGGTGATCTGAGGTCCCAAAGTGCTGGGATTACAGGCGTGAGCTCCCATGCCCGGCCATGTTTAACTTTTAAGTACTGTTAAAATTGTTTTACATGGTAGCTACACCATTTTATATTCCCCACCAGCAATGCACAAGGATTCTAATTTCTCCACCATCTTACCAACACTTTTTATTTACCATTTTTATATTATAGTCACTCTAAGGAGTGTGAAAGTGTACCTCATGGTGGTTTTGACTTGCATTTCCCTATGACTCATGATGTTGAGCATCTTCATGGCTTATTGGCCATTTGTATATCTTCTATGGAGAAACTGCTATTCAAGTTCTTTGCCCATTTTTGAATTGGGTTGTTTGTTTTTTGTTGTTGAGTTGTAGGATTTTTTTTTTTTATGTTCTGGATTTCATCCGTTTTCAGATATATATTGTTTGCAACTTTTTCCCCATTATTTTATTTTATTTATTTATTTTTTTTTTGGAGACAGAATCTTGCTCTGTCGCCACCCAGACTGGAGTGCAGTGGCAGAATGTTGGTTCACTGCAACCTCTGCCTCCCAGGTTCAAGAGATAACTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACACACCATCATGCCTGGTTAGTTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCTGGCAGGTCTCGAACTCCTGACCTCATGGGATCCACCTGCCTTGGCCTCCCAAAGTATTTTTTCCTTATTCTGTAGGTTATCTTTTTACTCTTTTCATAGTATCCTTTGATGCACAGAAGCTTTTAATTCTGATGTATTATTTTTACTCTTTACTTTTGTTTGTGCTTTTGTGTCATAACCAAGAAATCGCTGCCAAGTCCAATGTCATGAAGCTTTTTCCCTGTGTTTTCTTCTAAGAATTTTTGTGGCACTAGCCCTTAAATTAAGTCTTTGATCCATTGTGAGTTAATTTTTATATGGTATGAAATAAGGGTCCAACTTCATTATTTCATATGTGTATATTCAGTTTTCCCCCATCGAATGCTCTTGGCAACCTTGTCAAAAATCAATTGGCCATTTATAGGAGGGTTTATTCCTAGGCTTTCCATTCTGCCCCACTGGCATATGTGCCTGTCTTTATGCCAGTCCTACGCTGTTTTGAATACTGTAGCTTTGTAGTAAGTTTTGAAATCAGGAAGTGTGAGTCCTACAACCTTGTTCTTTTTAAAGATCATTTTGGCTATTTGGGAAAAACATTAATTTTAAAAAATTACTACTTGTAAGATCTGTGTGAAATTTCTACCTTCTGAAAATATGAATTCTTCTCGTTAAAATTTTCTGGGACTCTATTTCCTGCTGTTCACTAAAGTGTGTATTTATGCTCTTAATTATAGAAAGAGTATTCAAACGAAAATGCAGTTGTGAAGAGAATGCAGTCTCTTCAACTTAATTGTGTGGCAGTACCTTCAAGCCGGTCAAATTCAGGTAAATTACACTATGGTCAAAATCTATTCATTTATTTGTTTGGTTACTCATTCACTCCACTCTCTAAAAGACTATTCAGGACCATATGGGAAACAGAAGAAACTATAAAAGTGAACACCTGCCTTACAGGAATTTATAATAATATTCGAGAGTCAAGTTACATGTATTTGAAATATGAAGTAACAGTGTGCTCACCAGTCATAGAGTGTTCTGAACAAAAGGCCTAATATATCTGATGGGGAGAAGTGACAGTTCAGAAGAAGGAAGGGGACATATGTGAGAGCAAAGTCCCTGAGGAGCTCGGAGTGACTTACAGCCAGGGTACAAGCAGAGAGGCTGGTCTCAGGTCAAGTAGGGATACTTTTTTCACTGTAACAAAAGGGATGGCAGAGTATAGGATACTGAAGCCGCTTAGCTACCTGATCTGTGGCTAATTACTTAACCTCTTCTAAACTTCACTCATCAAATCATAATTGCTCCTCCTCTCATAGGGCTCTTCAAGAATGAAAGAATTCATGGGACATGCTTAGGACAGAGCTGCTGCAGATCTTTTTTTTTTGGAGACAGAGTCTGTCACCCCGGCTGGAGTGCAGTAGTGTGATCTTGGCTCACTACAACCTCCGCCTTTCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGCAGCAGGGATTACAGGCATGCACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGTCCGCCTCAGCCTCCCAACGTGCTAGGATTACAGGCGTGAGCCACCGCACCCAGCCACAGATCTTATTTTCCACCTGAATTGCTCCAAGGAGACAACCACCTTCTCTGCTCCAAACCAAGTCCCTTTTTTCCTTGATCATCCCTGCAACAGCCGCTTTTCTCTTGCTTGCTATAATTTTCCTAGTACTCTCTTACTGCCAGCGAGGAGCTCCTATTATTATTTGTAAAGCTTGTGGGAAGAGGACCATCTCCTAAATGCTTTGGACTGGTCTCGTACTTGTTTTCTGTGTGTTACTTTGAGATACAGATTCATGACGGCGCTCAGATTTTATTTTACTTTTTAATGTTTCATGACACCCATTCTAATGTTGATCATTTCTTCTCAGCCACAGAACAGCCTGGTTCACTGCACAGTTCCCAGGGACTTGGGATGGGTCCTGTGGAGGAGTCCTGGTTTGCTCCTTCCCTGGAGCACCCACAAGAAGAGAATGAGCCCAGCCTGCAGAGTAAACTCCAAGACGAAGCCAACTACCATCTTTATGGCAGCCGCATGGACAGGCAGACGAAACAGCAGCCCAGACAGAATGTGGCTTACAACAGAGAGGAGGAAAGGAGACGCAGGGTCTCCCATGACCCTTTTGCACAGCAAAGACCTTACGAGAATTTTCAGAATACAGAGGGAAAAGGCACTGCTTATTCCAGTGCAGCCAGTCATGGTAATGCAGTGCACCAGCCCTCAGGGCTCACCAGCCAACCTCAAGTACTGTATCAGAACAATGGATTATATAGCTCACATGGCTTTGGAACAAGACCACTGGATCCAGGAACAGCAGGTCCCAGAGTTTGGTACAGGCCAATTCCAAGTCATATGCCTAGTCTGCATAATATCCCAGTGCCTGAGACCAACTATCTAGGAAATACACCCACCATGCCATTCAGCTCCTTGCCACCAACAGGTAAATGGGTCTTCGATAGTCACAAGCTTGTCTTTTTTTATTTTTCAGAAAATACAGCAACCAAGCAGCTCTATTATAGATTGTGGGTTATAATGGGGACAGAGGGCATCATCAGCTGCCAGATGCAAATTGCCCCTGTGGAATGGACCCTGCCAAACCACTTGGTCTGGGAGTATTTCATCTGGGGCTAGGATTCATCACAGATGCCCGCAAGCATCGGGTTACAGGTCCTTGTGACTGGCAGGCATCTTTGACTCTAACCTGGAGTGCATAGT
Task1_train_9948
This sequence variant lies in RIPK1 (receptor interacting serine/threonine kinase 1) on Chromosome 6. Is it clinically significant, and what condition might it cause if any?
Pathogenic; not provided
CATGATGCCACAAGTGGAAAATACCACACCTGACACCTCTGCTTTCTGATAGTTCAGTATCCTCAAACTTTGTTTCATGCACAAAATTATTAAAATATGGTATAAAGTGACCTTCAGGCTATGTGTATAAGGTGCATATGAAACACAAATAAACTTCATGTTTAGACTTAGGTCCTCTCCCCACGATCTGTCATTCTGTACATGCAAATATTCCCAAATTGGAAACAATCCAAAATCCAAAACACTTCTAATCCCAAGCATTTTGGATAAGGGATACTACACCTGCACCATATTTTGAGTTCCTGCCTTCAGTTCTTTGGGGTATATATATCCGGGTGTGGAATTGCTAGATCATATGGTAATTCTATGTATAACTTTTTGTTTTTCTGAGACAGAGTCTCCCTCTGTTGCCCAGGCTGGAATGCAGTGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCACCTTCCCGAGTAGCTGGGATTACAGGCATACACCACCACGCCCGGCTAGTTTTTTGTATTTTTAGTAGAGATGGGGTGGTTTCACCATGTTGTCCAGGCTGGTCTCAAACTCCTAACCTCAGGTGATCTGAGGTCCCAAAGTGCTGGGATTACAGGCGTGAGCTCCCATGCCCGGCCATGTTTAACTTTTAAGTACTGTTAAAATTGTTTTACATGGTAGCTACACCATTTTATATTCCCCACCAGCAATGCACAAGGATTCTAATTTCTCCACCATCTTACCAACACTTTTTATTTACCATTTTTATATTATAGTCACTCTAAGGAGTGTGAAAGTGTACCTCATGGTGGTTTTGACTTGCATTTCCCTATGACTCATGATGTTGAGCATCTTCATGGCTTATTGGCCATTTGTATATCTTCTATGGAGAAACTGCTATTCAAGTTCTTTGCCCATTTTTGAATTGGGTTGTTTGTTTTTTGTTGTTGAGTTGTAGGATTTTTTTTTTTTATGTTCTGGATTTCATCCGTTTTCAGATATATATTGTTTGCAACTTTTTCCCCATTATTTTATTTTATTTATTTATTTTTTTTTTGGAGACAGAATCTTGCTCTGTCGCCACCCAGACTGGAGTGCAGTGGCAGAATGTTGGTTCACTGCAACCTCTGCCTCCCAGGTTCAAGAGATAACTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACACACCATCATGCCTGGTTAGTTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCTGGCAGGTCTCGAACTCCTGACCTCATGGGATCCACCTGCCTTGGCCTCCCAAAGTATTTTTTCCTTATTCTGTAGGTTATCTTTTTACTCTTTTCATAGTATCCTTTGATGCACAGAAGCTTTTAATTCTGATGTATTATTTTTACTCTTTACTTTTGTTTGTGCTTTTGTGTCATAACCAAGAAATCGCTGCCAAGTCCAATGTCATGAAGCTTTTTCCCTGTGTTTTCTTCTAAGAATTTTTGTGGCACTAGCCCTTAAATTAAGTCTTTGATCCATTGTGAGTTAATTTTTATATGGTATGAAATAAGGGTCCAACTTCATTATTTCATATGTGTATATTCAGTTTTCCCCCATCGAATGCTCTTGGCAACCTTGTCAAAAATCAATTGGCCATTTATAGGAGGGTTTATTCCTAGGCTTTCCATTCTGCCCCACTGGCATATGTGCCTGTCTTTATGCCAGTCCTACGCTGTTTTGAATACTGTAGCTTTGTAGTAAGTTTTGAAATCAGGAAGTGTGAGTCCTACAACCTTGTTCTTTTTAAAGATCATTTTGGCTATTTGGGAAAAACATTAATTTTAAAAAATTACTACTTGTAAGATCTGTGTGAAATTTCTACCTTCTGAAAATATGAATTCTTCTCGTTAAAATTTTCTGGGACTCTATTTCCTGCTGTTCACTAAAGTGTGTATTTATGCTCTTAATTATAGAAAGAGTATTCAAACGAAAATGCAGTTGTGAAGAGAATGCAGTCTCTTCAACTTGATTGTGTGGCAGTACCTTCAAGCCGGTCAAATTCAGGTAAATTACACTATGGTCAAAATCTATTCATTTATTTGTTTGGTTACTCATTCACTCCACTCTCTAAAAGACTATTCAGGACCATATGGGAAACAGAAGAAACTATAAAAGTGAACACCTGCCTTACAGGAATTTATAATAATATTCGAGAGTCAAGTTACATGTATTTGAAATATGAAGTAACAGTGTGCTCACCAGTCATAGAGTGTTCTGAACAAAAGGCCTAATATATCTGATGGGGAGAAGTGACAGTTCAGAAGAAGGAAGGGGACATATGTGAGAGCAAAGTCCCTGAGGAGCTCGGAGTGACTTACAGCCAGGGTACAAGCAGAGAGGCTGGTCTCAGGTCAAGTAGGGATACTTTTTTCACTGTAACAAAAGGGATGGCAGAGTATAGGATACTGAAGCCGCTTAGCTACCTGATCTGTGGCTAATTACTTAACCTCTTCTAAACTTCACTCATCAAATCATAATTGCTCCTCCTCTCATAGGGCTCTTCAAGAATGAAAGAATTCATGGGACATGCTTAGGACAGAGCTGCTGCAGATCTTTTTTTTTTGGAGACAGAGTCTGTCACCCCGGCTGGAGTGCAGTAGTGTGATCTTGGCTCACTACAACCTCCGCCTTTCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGCAGCAGGGATTACAGGCATGCACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGTCCGCCTCAGCCTCCCAACGTGCTAGGATTACAGGCGTGAGCCACCGCACCCAGCCACAGATCTTATTTTCCACCTGAATTGCTCCAAGGAGACAACCACCTTCTCTGCTCCAAACCAAGTCCCTTTTTTCCTTGATCATCCCTGCAACAGCCGCTTTTCTCTTGCTTGCTATAATTTTCCTAGTACTCTCTTACTGCCAGCGAGGAGCTCCTATTATTATTTGTAAAGCTTGTGGGAAGAGGACCATCTCCTAAATGCTTTGGACTGGTCTCGTACTTGTTTTCTGTGTGTTACTTTGAGATACAGATTCATGACGGCGCTCAGATTTTATTTTACTTTTTAATGTTTCATGACACCCATTCTAATGTTGATCATTTCTTCTCAGCCACAGAACAGCCTGGTTCACTGCACAGTTCCCAGGGACTTGGGATGGGTCCTGTGGAGGAGTCCTGGTTTGCTCCTTCCCTGGAGCACCCACAAGAAGAGAATGAGCCCAGCCTGCAGAGTAAACTCCAAGACGAAGCCAACTACCATCTTTATGGCAGCCGCATGGACAGGCAGACGAAACAGCAGCCCAGACAGAATGTGGCTTACAACAGAGAGGAGGAAAGGAGACGCAGGGTCTCCCATGACCCTTTTGCACAGCAAAGACCTTACGAGAATTTTCAGAATACAGAGGGAAAAGGCACTGCTTATTCCAGTGCAGCCAGTCATGGTAATGCAGTGCACCAGCCCTCAGGGCTCACCAGCCAACCTCAAGTACTGTATCAGAACAATGGATTATATAGCTCACATGGCTTTGGAACAAGACCACTGGATCCAGGAACAGCAGGTCCCAGAGTTTGGTACAGGCCAATTCCAAGTCATATGCCTAGTCTGCATAATATCCCAGTGCCTGAGACCAACTATCTAGGAAATACACCCACCATGCCATTCAGCTCCTTGCCACCAACAGGTAAATGGGTCTTCGATAGTCACAAGCTTGTCTTTTTTTATTTTTCAGAAAATACAGCAACCAAGCAGCTCTATTATAGATTGTGGGTTATAATGGGGACAGAGGGCATCATCAGCTGCCAGATGCAAATTGCCCCTGTGGAATGGACCCTGCCAAACCACTTGGTCTGGGAGTATTTCATCTGGGGCTAGGATTCATCACAGATGCCCGCAAGCATCGGGTTACAGGTCCTTGTGACTGGCAGGCATCTTTGACTCTAACCTGGAGTGCATAGT
CATGATGCCACAAGTGGAAAATACCACACCTGACACCTCTGCTTTCTGATAGTTCAGTATCCTCAAACTTTGTTTCATGCACAAAATTATTAAAATATGGTATAAAGTGACCTTCAGGCTATGTGTATAAGGTGCATATGAAACACAAATAAACTTCATGTTTAGACTTAGGTCCTCTCCCCACGATCTGTCATTCTGTACATGCAAATATTCCCAAATTGGAAACAATCCAAAATCCAAAACACTTCTAATCCCAAGCATTTTGGATAAGGGATACTACACCTGCACCATATTTTGAGTTCCTGCCTTCAGTTCTTTGGGGTATATATATCCGGGTGTGGAATTGCTAGATCATATGGTAATTCTATGTATAACTTTTTGTTTTTCTGAGACAGAGTCTCCCTCTGTTGCCCAGGCTGGAATGCAGTGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCACCTTCCCGAGTAGCTGGGATTACAGGCATACACCACCACGCCCGGCTAGTTTTTTGTATTTTTAGTAGAGATGGGGTGGTTTCACCATGTTGTCCAGGCTGGTCTCAAACTCCTAACCTCAGGTGATCTGAGGTCCCAAAGTGCTGGGATTACAGGCGTGAGCTCCCATGCCCGGCCATGTTTAACTTTTAAGTACTGTTAAAATTGTTTTACATGGTAGCTACACCATTTTATATTCCCCACCAGCAATGCACAAGGATTCTAATTTCTCCACCATCTTACCAACACTTTTTATTTACCATTTTTATATTATAGTCACTCTAAGGAGTGTGAAAGTGTACCTCATGGTGGTTTTGACTTGCATTTCCCTATGACTCATGATGTTGAGCATCTTCATGGCTTATTGGCCATTTGTATATCTTCTATGGAGAAACTGCTATTCAAGTTCTTTGCCCATTTTTGAATTGGGTTGTTTGTTTTTTGTTGTTGAGTTGTAGGATTTTTTTTTTTTATGTTCTGGATTTCATCCGTTTTCAGATATATATTGTTTGCAACTTTTTCCCCATTATTTTATTTTATTTATTTATTTTTTTTTTGGAGACAGAATCTTGCTCTGTCGCCACCCAGACTGGAGTGCAGTGGCAGAATGTTGGTTCACTGCAACCTCTGCCTCCCAGGTTCAAGAGATAACTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACACACCATCATGCCTGGTTAGTTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCTGGCAGGTCTCGAACTCCTGACCTCATGGGATCCACCTGCCTTGGCCTCCCAAAGTATTTTTTCCTTATTCTGTAGGTTATCTTTTTACTCTTTTCATAGTATCCTTTGATGCACAGAAGCTTTTAATTCTGATGTATTATTTTTACTCTTTACTTTTGTTTGTGCTTTTGTGTCATAACCAAGAAATCGCTGCCAAGTCCAATGTCATGAAGCTTTTTCCCTGTGTTTTCTTCTAAGAATTTTTGTGGCACTAGCCCTTAAATTAAGTCTTTGATCCATTGTGAGTTAATTTTTATATGGTATGAAATAAGGGTCCAACTTCATTATTTCATATGTGTATATTCAGTTTTCCCCCATCGAATGCTCTTGGCAACCTTGTCAAAAATCAATTGGCCATTTATAGGAGGGTTTATTCCTAGGCTTTCCATTCTGCCCCACTGGCATATGTGCCTGTCTTTATGCCAGTCCTACGCTGTTTTGAATACTGTAGCTTTGTAGTAAGTTTTGAAATCAGGAAGTGTGAGTCCTACAACCTTGTTCTTTTTAAAGATCATTTTGGCTATTTGGGAAAAACATTAATTTTAAAAAATTACTACTTGTAAGATCTGTGTGAAATTTCTACCTTCTGAAAATATGAATTCTTCTCGTTAAAATTTTCTGGGACTCTATTTCCTGCTGTTCACTAAAGTGTGTATTTATGCTCTTAATTATAGAAAGAGTATTCAAACGAAAATGCAGTTGTGAAGAGAATGCAGTCTCTTCAACTTCATTGTGTGGCAGTACCTTCAAGCCGGTCAAATTCAGGTAAATTACACTATGGTCAAAATCTATTCATTTATTTGTTTGGTTACTCATTCACTCCACTCTCTAAAAGACTATTCAGGACCATATGGGAAACAGAAGAAACTATAAAAGTGAACACCTGCCTTACAGGAATTTATAATAATATTCGAGAGTCAAGTTACATGTATTTGAAATATGAAGTAACAGTGTGCTCACCAGTCATAGAGTGTTCTGAACAAAAGGCCTAATATATCTGATGGGGAGAAGTGACAGTTCAGAAGAAGGAAGGGGACATATGTGAGAGCAAAGTCCCTGAGGAGCTCGGAGTGACTTACAGCCAGGGTACAAGCAGAGAGGCTGGTCTCAGGTCAAGTAGGGATACTTTTTTCACTGTAACAAAAGGGATGGCAGAGTATAGGATACTGAAGCCGCTTAGCTACCTGATCTGTGGCTAATTACTTAACCTCTTCTAAACTTCACTCATCAAATCATAATTGCTCCTCCTCTCATAGGGCTCTTCAAGAATGAAAGAATTCATGGGACATGCTTAGGACAGAGCTGCTGCAGATCTTTTTTTTTTGGAGACAGAGTCTGTCACCCCGGCTGGAGTGCAGTAGTGTGATCTTGGCTCACTACAACCTCCGCCTTTCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGCAGCAGGGATTACAGGCATGCACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGTCCGCCTCAGCCTCCCAACGTGCTAGGATTACAGGCGTGAGCCACCGCACCCAGCCACAGATCTTATTTTCCACCTGAATTGCTCCAAGGAGACAACCACCTTCTCTGCTCCAAACCAAGTCCCTTTTTTCCTTGATCATCCCTGCAACAGCCGCTTTTCTCTTGCTTGCTATAATTTTCCTAGTACTCTCTTACTGCCAGCGAGGAGCTCCTATTATTATTTGTAAAGCTTGTGGGAAGAGGACCATCTCCTAAATGCTTTGGACTGGTCTCGTACTTGTTTTCTGTGTGTTACTTTGAGATACAGATTCATGACGGCGCTCAGATTTTATTTTACTTTTTAATGTTTCATGACACCCATTCTAATGTTGATCATTTCTTCTCAGCCACAGAACAGCCTGGTTCACTGCACAGTTCCCAGGGACTTGGGATGGGTCCTGTGGAGGAGTCCTGGTTTGCTCCTTCCCTGGAGCACCCACAAGAAGAGAATGAGCCCAGCCTGCAGAGTAAACTCCAAGACGAAGCCAACTACCATCTTTATGGCAGCCGCATGGACAGGCAGACGAAACAGCAGCCCAGACAGAATGTGGCTTACAACAGAGAGGAGGAAAGGAGACGCAGGGTCTCCCATGACCCTTTTGCACAGCAAAGACCTTACGAGAATTTTCAGAATACAGAGGGAAAAGGCACTGCTTATTCCAGTGCAGCCAGTCATGGTAATGCAGTGCACCAGCCCTCAGGGCTCACCAGCCAACCTCAAGTACTGTATCAGAACAATGGATTATATAGCTCACATGGCTTTGGAACAAGACCACTGGATCCAGGAACAGCAGGTCCCAGAGTTTGGTACAGGCCAATTCCAAGTCATATGCCTAGTCTGCATAATATCCCAGTGCCTGAGACCAACTATCTAGGAAATACACCCACCATGCCATTCAGCTCCTTGCCACCAACAGGTAAATGGGTCTTCGATAGTCACAAGCTTGTCTTTTTTTATTTTTCAGAAAATACAGCAACCAAGCAGCTCTATTATAGATTGTGGGTTATAATGGGGACAGAGGGCATCATCAGCTGCCAGATGCAAATTGCCCCTGTGGAATGGACCCTGCCAAACCACTTGGTCTGGGAGTATTTCATCTGGGGCTAGGATTCATCACAGATGCCCGCAAGCATCGGGTTACAGGTCCTTGTGACTGGCAGGCATCTTTGACTCTAACCTGGAGTGCATAGT
Task1_train_9949
A variant was discovered in gene RIPK1 (receptor interacting serine/threonine kinase 1), Chromosome 6. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Autoinflammation with episodic fever and lymphadenopathy
CATGATGCCACAAGTGGAAAATACCACACCTGACACCTCTGCTTTCTGATAGTTCAGTATCCTCAAACTTTGTTTCATGCACAAAATTATTAAAATATGGTATAAAGTGACCTTCAGGCTATGTGTATAAGGTGCATATGAAACACAAATAAACTTCATGTTTAGACTTAGGTCCTCTCCCCACGATCTGTCATTCTGTACATGCAAATATTCCCAAATTGGAAACAATCCAAAATCCAAAACACTTCTAATCCCAAGCATTTTGGATAAGGGATACTACACCTGCACCATATTTTGAGTTCCTGCCTTCAGTTCTTTGGGGTATATATATCCGGGTGTGGAATTGCTAGATCATATGGTAATTCTATGTATAACTTTTTGTTTTTCTGAGACAGAGTCTCCCTCTGTTGCCCAGGCTGGAATGCAGTGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCACCTTCCCGAGTAGCTGGGATTACAGGCATACACCACCACGCCCGGCTAGTTTTTTGTATTTTTAGTAGAGATGGGGTGGTTTCACCATGTTGTCCAGGCTGGTCTCAAACTCCTAACCTCAGGTGATCTGAGGTCCCAAAGTGCTGGGATTACAGGCGTGAGCTCCCATGCCCGGCCATGTTTAACTTTTAAGTACTGTTAAAATTGTTTTACATGGTAGCTACACCATTTTATATTCCCCACCAGCAATGCACAAGGATTCTAATTTCTCCACCATCTTACCAACACTTTTTATTTACCATTTTTATATTATAGTCACTCTAAGGAGTGTGAAAGTGTACCTCATGGTGGTTTTGACTTGCATTTCCCTATGACTCATGATGTTGAGCATCTTCATGGCTTATTGGCCATTTGTATATCTTCTATGGAGAAACTGCTATTCAAGTTCTTTGCCCATTTTTGAATTGGGTTGTTTGTTTTTTGTTGTTGAGTTGTAGGATTTTTTTTTTTTATGTTCTGGATTTCATCCGTTTTCAGATATATATTGTTTGCAACTTTTTCCCCATTATTTTATTTTATTTATTTATTTTTTTTTTGGAGACAGAATCTTGCTCTGTCGCCACCCAGACTGGAGTGCAGTGGCAGAATGTTGGTTCACTGCAACCTCTGCCTCCCAGGTTCAAGAGATAACTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACACACCATCATGCCTGGTTAGTTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCTGGCAGGTCTCGAACTCCTGACCTCATGGGATCCACCTGCCTTGGCCTCCCAAAGTATTTTTTCCTTATTCTGTAGGTTATCTTTTTACTCTTTTCATAGTATCCTTTGATGCACAGAAGCTTTTAATTCTGATGTATTATTTTTACTCTTTACTTTTGTTTGTGCTTTTGTGTCATAACCAAGAAATCGCTGCCAAGTCCAATGTCATGAAGCTTTTTCCCTGTGTTTTCTTCTAAGAATTTTTGTGGCACTAGCCCTTAAATTAAGTCTTTGATCCATTGTGAGTTAATTTTTATATGGTATGAAATAAGGGTCCAACTTCATTATTTCATATGTGTATATTCAGTTTTCCCCCATCGAATGCTCTTGGCAACCTTGTCAAAAATCAATTGGCCATTTATAGGAGGGTTTATTCCTAGGCTTTCCATTCTGCCCCACTGGCATATGTGCCTGTCTTTATGCCAGTCCTACGCTGTTTTGAATACTGTAGCTTTGTAGTAAGTTTTGAAATCAGGAAGTGTGAGTCCTACAACCTTGTTCTTTTTAAAGATCATTTTGGCTATTTGGGAAAAACATTAATTTTAAAAAATTACTACTTGTAAGATCTGTGTGAAATTTCTACCTTCTGAAAATATGAATTCTTCTCGTTAAAATTTTCTGGGACTCTATTTCCTGCTGTTCACTAAAGTGTGTATTTATGCTCTTAATTATAGAAAGAGTATTCAAACGAAAATGCAGTTGTGAAGAGAATGCAGTCTCTTCAACTTGATTGTGTGGCAGTACCTTCAAGCCGGTCAAATTCAGGTAAATTACACTATGGTCAAAATCTATTCATTTATTTGTTTGGTTACTCATTCACTCCACTCTCTAAAAGACTATTCAGGACCATATGGGAAACAGAAGAAACTATAAAAGTGAACACCTGCCTTACAGGAATTTATAATAATATTCGAGAGTCAAGTTACATGTATTTGAAATATGAAGTAACAGTGTGCTCACCAGTCATAGAGTGTTCTGAACAAAAGGCCTAATATATCTGATGGGGAGAAGTGACAGTTCAGAAGAAGGAAGGGGACATATGTGAGAGCAAAGTCCCTGAGGAGCTCGGAGTGACTTACAGCCAGGGTACAAGCAGAGAGGCTGGTCTCAGGTCAAGTAGGGATACTTTTTTCACTGTAACAAAAGGGATGGCAGAGTATAGGATACTGAAGCCGCTTAGCTACCTGATCTGTGGCTAATTACTTAACCTCTTCTAAACTTCACTCATCAAATCATAATTGCTCCTCCTCTCATAGGGCTCTTCAAGAATGAAAGAATTCATGGGACATGCTTAGGACAGAGCTGCTGCAGATCTTTTTTTTTTGGAGACAGAGTCTGTCACCCCGGCTGGAGTGCAGTAGTGTGATCTTGGCTCACTACAACCTCCGCCTTTCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGCAGCAGGGATTACAGGCATGCACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGTCCGCCTCAGCCTCCCAACGTGCTAGGATTACAGGCGTGAGCCACCGCACCCAGCCACAGATCTTATTTTCCACCTGAATTGCTCCAAGGAGACAACCACCTTCTCTGCTCCAAACCAAGTCCCTTTTTTCCTTGATCATCCCTGCAACAGCCGCTTTTCTCTTGCTTGCTATAATTTTCCTAGTACTCTCTTACTGCCAGCGAGGAGCTCCTATTATTATTTGTAAAGCTTGTGGGAAGAGGACCATCTCCTAAATGCTTTGGACTGGTCTCGTACTTGTTTTCTGTGTGTTACTTTGAGATACAGATTCATGACGGCGCTCAGATTTTATTTTACTTTTTAATGTTTCATGACACCCATTCTAATGTTGATCATTTCTTCTCAGCCACAGAACAGCCTGGTTCACTGCACAGTTCCCAGGGACTTGGGATGGGTCCTGTGGAGGAGTCCTGGTTTGCTCCTTCCCTGGAGCACCCACAAGAAGAGAATGAGCCCAGCCTGCAGAGTAAACTCCAAGACGAAGCCAACTACCATCTTTATGGCAGCCGCATGGACAGGCAGACGAAACAGCAGCCCAGACAGAATGTGGCTTACAACAGAGAGGAGGAAAGGAGACGCAGGGTCTCCCATGACCCTTTTGCACAGCAAAGACCTTACGAGAATTTTCAGAATACAGAGGGAAAAGGCACTGCTTATTCCAGTGCAGCCAGTCATGGTAATGCAGTGCACCAGCCCTCAGGGCTCACCAGCCAACCTCAAGTACTGTATCAGAACAATGGATTATATAGCTCACATGGCTTTGGAACAAGACCACTGGATCCAGGAACAGCAGGTCCCAGAGTTTGGTACAGGCCAATTCCAAGTCATATGCCTAGTCTGCATAATATCCCAGTGCCTGAGACCAACTATCTAGGAAATACACCCACCATGCCATTCAGCTCCTTGCCACCAACAGGTAAATGGGTCTTCGATAGTCACAAGCTTGTCTTTTTTTATTTTTCAGAAAATACAGCAACCAAGCAGCTCTATTATAGATTGTGGGTTATAATGGGGACAGAGGGCATCATCAGCTGCCAGATGCAAATTGCCCCTGTGGAATGGACCCTGCCAAACCACTTGGTCTGGGAGTATTTCATCTGGGGCTAGGATTCATCACAGATGCCCGCAAGCATCGGGTTACAGGTCCTTGTGACTGGCAGGCATCTTTGACTCTAACCTGGAGTGCATAGT
CATGATGCCACAAGTGGAAAATACCACACCTGACACCTCTGCTTTCTGATAGTTCAGTATCCTCAAACTTTGTTTCATGCACAAAATTATTAAAATATGGTATAAAGTGACCTTCAGGCTATGTGTATAAGGTGCATATGAAACACAAATAAACTTCATGTTTAGACTTAGGTCCTCTCCCCACGATCTGTCATTCTGTACATGCAAATATTCCCAAATTGGAAACAATCCAAAATCCAAAACACTTCTAATCCCAAGCATTTTGGATAAGGGATACTACACCTGCACCATATTTTGAGTTCCTGCCTTCAGTTCTTTGGGGTATATATATCCGGGTGTGGAATTGCTAGATCATATGGTAATTCTATGTATAACTTTTTGTTTTTCTGAGACAGAGTCTCCCTCTGTTGCCCAGGCTGGAATGCAGTGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCACCTTCCCGAGTAGCTGGGATTACAGGCATACACCACCACGCCCGGCTAGTTTTTTGTATTTTTAGTAGAGATGGGGTGGTTTCACCATGTTGTCCAGGCTGGTCTCAAACTCCTAACCTCAGGTGATCTGAGGTCCCAAAGTGCTGGGATTACAGGCGTGAGCTCCCATGCCCGGCCATGTTTAACTTTTAAGTACTGTTAAAATTGTTTTACATGGTAGCTACACCATTTTATATTCCCCACCAGCAATGCACAAGGATTCTAATTTCTCCACCATCTTACCAACACTTTTTATTTACCATTTTTATATTATAGTCACTCTAAGGAGTGTGAAAGTGTACCTCATGGTGGTTTTGACTTGCATTTCCCTATGACTCATGATGTTGAGCATCTTCATGGCTTATTGGCCATTTGTATATCTTCTATGGAGAAACTGCTATTCAAGTTCTTTGCCCATTTTTGAATTGGGTTGTTTGTTTTTTGTTGTTGAGTTGTAGGATTTTTTTTTTTTATGTTCTGGATTTCATCCGTTTTCAGATATATATTGTTTGCAACTTTTTCCCCATTATTTTATTTTATTTATTTATTTTTTTTTTGGAGACAGAATCTTGCTCTGTCGCCACCCAGACTGGAGTGCAGTGGCAGAATGTTGGTTCACTGCAACCTCTGCCTCCCAGGTTCAAGAGATAACTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACACACCATCATGCCTGGTTAGTTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCTGGCAGGTCTCGAACTCCTGACCTCATGGGATCCACCTGCCTTGGCCTCCCAAAGTATTTTTTCCTTATTCTGTAGGTTATCTTTTTACTCTTTTCATAGTATCCTTTGATGCACAGAAGCTTTTAATTCTGATGTATTATTTTTACTCTTTACTTTTGTTTGTGCTTTTGTGTCATAACCAAGAAATCGCTGCCAAGTCCAATGTCATGAAGCTTTTTCCCTGTGTTTTCTTCTAAGAATTTTTGTGGCACTAGCCCTTAAATTAAGTCTTTGATCCATTGTGAGTTAATTTTTATATGGTATGAAATAAGGGTCCAACTTCATTATTTCATATGTGTATATTCAGTTTTCCCCCATCGAATGCTCTTGGCAACCTTGTCAAAAATCAATTGGCCATTTATAGGAGGGTTTATTCCTAGGCTTTCCATTCTGCCCCACTGGCATATGTGCCTGTCTTTATGCCAGTCCTACGCTGTTTTGAATACTGTAGCTTTGTAGTAAGTTTTGAAATCAGGAAGTGTGAGTCCTACAACCTTGTTCTTTTTAAAGATCATTTTGGCTATTTGGGAAAAACATTAATTTTAAAAAATTACTACTTGTAAGATCTGTGTGAAATTTCTACCTTCTGAAAATATGAATTCTTCTCGTTAAAATTTTCTGGGACTCTATTTCCTGCTGTTCACTAAAGTGTGTATTTATGCTCTTAATTATAGAAAGAGTATTCAAACGAAAATGCAGTTGTGAAGAGAATGCAGTCTCTTCAACTTTATTGTGTGGCAGTACCTTCAAGCCGGTCAAATTCAGGTAAATTACACTATGGTCAAAATCTATTCATTTATTTGTTTGGTTACTCATTCACTCCACTCTCTAAAAGACTATTCAGGACCATATGGGAAACAGAAGAAACTATAAAAGTGAACACCTGCCTTACAGGAATTTATAATAATATTCGAGAGTCAAGTTACATGTATTTGAAATATGAAGTAACAGTGTGCTCACCAGTCATAGAGTGTTCTGAACAAAAGGCCTAATATATCTGATGGGGAGAAGTGACAGTTCAGAAGAAGGAAGGGGACATATGTGAGAGCAAAGTCCCTGAGGAGCTCGGAGTGACTTACAGCCAGGGTACAAGCAGAGAGGCTGGTCTCAGGTCAAGTAGGGATACTTTTTTCACTGTAACAAAAGGGATGGCAGAGTATAGGATACTGAAGCCGCTTAGCTACCTGATCTGTGGCTAATTACTTAACCTCTTCTAAACTTCACTCATCAAATCATAATTGCTCCTCCTCTCATAGGGCTCTTCAAGAATGAAAGAATTCATGGGACATGCTTAGGACAGAGCTGCTGCAGATCTTTTTTTTTTGGAGACAGAGTCTGTCACCCCGGCTGGAGTGCAGTAGTGTGATCTTGGCTCACTACAACCTCCGCCTTTCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGCAGCAGGGATTACAGGCATGCACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGTCCGCCTCAGCCTCCCAACGTGCTAGGATTACAGGCGTGAGCCACCGCACCCAGCCACAGATCTTATTTTCCACCTGAATTGCTCCAAGGAGACAACCACCTTCTCTGCTCCAAACCAAGTCCCTTTTTTCCTTGATCATCCCTGCAACAGCCGCTTTTCTCTTGCTTGCTATAATTTTCCTAGTACTCTCTTACTGCCAGCGAGGAGCTCCTATTATTATTTGTAAAGCTTGTGGGAAGAGGACCATCTCCTAAATGCTTTGGACTGGTCTCGTACTTGTTTTCTGTGTGTTACTTTGAGATACAGATTCATGACGGCGCTCAGATTTTATTTTACTTTTTAATGTTTCATGACACCCATTCTAATGTTGATCATTTCTTCTCAGCCACAGAACAGCCTGGTTCACTGCACAGTTCCCAGGGACTTGGGATGGGTCCTGTGGAGGAGTCCTGGTTTGCTCCTTCCCTGGAGCACCCACAAGAAGAGAATGAGCCCAGCCTGCAGAGTAAACTCCAAGACGAAGCCAACTACCATCTTTATGGCAGCCGCATGGACAGGCAGACGAAACAGCAGCCCAGACAGAATGTGGCTTACAACAGAGAGGAGGAAAGGAGACGCAGGGTCTCCCATGACCCTTTTGCACAGCAAAGACCTTACGAGAATTTTCAGAATACAGAGGGAAAAGGCACTGCTTATTCCAGTGCAGCCAGTCATGGTAATGCAGTGCACCAGCCCTCAGGGCTCACCAGCCAACCTCAAGTACTGTATCAGAACAATGGATTATATAGCTCACATGGCTTTGGAACAAGACCACTGGATCCAGGAACAGCAGGTCCCAGAGTTTGGTACAGGCCAATTCCAAGTCATATGCCTAGTCTGCATAATATCCCAGTGCCTGAGACCAACTATCTAGGAAATACACCCACCATGCCATTCAGCTCCTTGCCACCAACAGGTAAATGGGTCTTCGATAGTCACAAGCTTGTCTTTTTTTATTTTTCAGAAAATACAGCAACCAAGCAGCTCTATTATAGATTGTGGGTTATAATGGGGACAGAGGGCATCATCAGCTGCCAGATGCAAATTGCCCCTGTGGAATGGACCCTGCCAAACCACTTGGTCTGGGAGTATTTCATCTGGGGCTAGGATTCATCACAGATGCCCGCAAGCATCGGGTTACAGGTCCTTGTGACTGGCAGGCATCTTTGACTCTAACCTGGAGTGCATAGT
Task1_train_9950
Gene RIPK1 (receptor interacting serine/threonine kinase 1) on Chromosome 6 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Autoinflammation with episodic fever and lymphadenopathy
ATGATGCCACAAGTGGAAAATACCACACCTGACACCTCTGCTTTCTGATAGTTCAGTATCCTCAAACTTTGTTTCATGCACAAAATTATTAAAATATGGTATAAAGTGACCTTCAGGCTATGTGTATAAGGTGCATATGAAACACAAATAAACTTCATGTTTAGACTTAGGTCCTCTCCCCACGATCTGTCATTCTGTACATGCAAATATTCCCAAATTGGAAACAATCCAAAATCCAAAACACTTCTAATCCCAAGCATTTTGGATAAGGGATACTACACCTGCACCATATTTTGAGTTCCTGCCTTCAGTTCTTTGGGGTATATATATCCGGGTGTGGAATTGCTAGATCATATGGTAATTCTATGTATAACTTTTTGTTTTTCTGAGACAGAGTCTCCCTCTGTTGCCCAGGCTGGAATGCAGTGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCACCTTCCCGAGTAGCTGGGATTACAGGCATACACCACCACGCCCGGCTAGTTTTTTGTATTTTTAGTAGAGATGGGGTGGTTTCACCATGTTGTCCAGGCTGGTCTCAAACTCCTAACCTCAGGTGATCTGAGGTCCCAAAGTGCTGGGATTACAGGCGTGAGCTCCCATGCCCGGCCATGTTTAACTTTTAAGTACTGTTAAAATTGTTTTACATGGTAGCTACACCATTTTATATTCCCCACCAGCAATGCACAAGGATTCTAATTTCTCCACCATCTTACCAACACTTTTTATTTACCATTTTTATATTATAGTCACTCTAAGGAGTGTGAAAGTGTACCTCATGGTGGTTTTGACTTGCATTTCCCTATGACTCATGATGTTGAGCATCTTCATGGCTTATTGGCCATTTGTATATCTTCTATGGAGAAACTGCTATTCAAGTTCTTTGCCCATTTTTGAATTGGGTTGTTTGTTTTTTGTTGTTGAGTTGTAGGATTTTTTTTTTTTATGTTCTGGATTTCATCCGTTTTCAGATATATATTGTTTGCAACTTTTTCCCCATTATTTTATTTTATTTATTTATTTTTTTTTTGGAGACAGAATCTTGCTCTGTCGCCACCCAGACTGGAGTGCAGTGGCAGAATGTTGGTTCACTGCAACCTCTGCCTCCCAGGTTCAAGAGATAACTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACACACCATCATGCCTGGTTAGTTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCTGGCAGGTCTCGAACTCCTGACCTCATGGGATCCACCTGCCTTGGCCTCCCAAAGTATTTTTTCCTTATTCTGTAGGTTATCTTTTTACTCTTTTCATAGTATCCTTTGATGCACAGAAGCTTTTAATTCTGATGTATTATTTTTACTCTTTACTTTTGTTTGTGCTTTTGTGTCATAACCAAGAAATCGCTGCCAAGTCCAATGTCATGAAGCTTTTTCCCTGTGTTTTCTTCTAAGAATTTTTGTGGCACTAGCCCTTAAATTAAGTCTTTGATCCATTGTGAGTTAATTTTTATATGGTATGAAATAAGGGTCCAACTTCATTATTTCATATGTGTATATTCAGTTTTCCCCCATCGAATGCTCTTGGCAACCTTGTCAAAAATCAATTGGCCATTTATAGGAGGGTTTATTCCTAGGCTTTCCATTCTGCCCCACTGGCATATGTGCCTGTCTTTATGCCAGTCCTACGCTGTTTTGAATACTGTAGCTTTGTAGTAAGTTTTGAAATCAGGAAGTGTGAGTCCTACAACCTTGTTCTTTTTAAAGATCATTTTGGCTATTTGGGAAAAACATTAATTTTAAAAAATTACTACTTGTAAGATCTGTGTGAAATTTCTACCTTCTGAAAATATGAATTCTTCTCGTTAAAATTTTCTGGGACTCTATTTCCTGCTGTTCACTAAAGTGTGTATTTATGCTCTTAATTATAGAAAGAGTATTCAAACGAAAATGCAGTTGTGAAGAGAATGCAGTCTCTTCAACTTGATTGTGTGGCAGTACCTTCAAGCCGGTCAAATTCAGGTAAATTACACTATGGTCAAAATCTATTCATTTATTTGTTTGGTTACTCATTCACTCCACTCTCTAAAAGACTATTCAGGACCATATGGGAAACAGAAGAAACTATAAAAGTGAACACCTGCCTTACAGGAATTTATAATAATATTCGAGAGTCAAGTTACATGTATTTGAAATATGAAGTAACAGTGTGCTCACCAGTCATAGAGTGTTCTGAACAAAAGGCCTAATATATCTGATGGGGAGAAGTGACAGTTCAGAAGAAGGAAGGGGACATATGTGAGAGCAAAGTCCCTGAGGAGCTCGGAGTGACTTACAGCCAGGGTACAAGCAGAGAGGCTGGTCTCAGGTCAAGTAGGGATACTTTTTTCACTGTAACAAAAGGGATGGCAGAGTATAGGATACTGAAGCCGCTTAGCTACCTGATCTGTGGCTAATTACTTAACCTCTTCTAAACTTCACTCATCAAATCATAATTGCTCCTCCTCTCATAGGGCTCTTCAAGAATGAAAGAATTCATGGGACATGCTTAGGACAGAGCTGCTGCAGATCTTTTTTTTTTGGAGACAGAGTCTGTCACCCCGGCTGGAGTGCAGTAGTGTGATCTTGGCTCACTACAACCTCCGCCTTTCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGCAGCAGGGATTACAGGCATGCACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGTCCGCCTCAGCCTCCCAACGTGCTAGGATTACAGGCGTGAGCCACCGCACCCAGCCACAGATCTTATTTTCCACCTGAATTGCTCCAAGGAGACAACCACCTTCTCTGCTCCAAACCAAGTCCCTTTTTTCCTTGATCATCCCTGCAACAGCCGCTTTTCTCTTGCTTGCTATAATTTTCCTAGTACTCTCTTACTGCCAGCGAGGAGCTCCTATTATTATTTGTAAAGCTTGTGGGAAGAGGACCATCTCCTAAATGCTTTGGACTGGTCTCGTACTTGTTTTCTGTGTGTTACTTTGAGATACAGATTCATGACGGCGCTCAGATTTTATTTTACTTTTTAATGTTTCATGACACCCATTCTAATGTTGATCATTTCTTCTCAGCCACAGAACAGCCTGGTTCACTGCACAGTTCCCAGGGACTTGGGATGGGTCCTGTGGAGGAGTCCTGGTTTGCTCCTTCCCTGGAGCACCCACAAGAAGAGAATGAGCCCAGCCTGCAGAGTAAACTCCAAGACGAAGCCAACTACCATCTTTATGGCAGCCGCATGGACAGGCAGACGAAACAGCAGCCCAGACAGAATGTGGCTTACAACAGAGAGGAGGAAAGGAGACGCAGGGTCTCCCATGACCCTTTTGCACAGCAAAGACCTTACGAGAATTTTCAGAATACAGAGGGAAAAGGCACTGCTTATTCCAGTGCAGCCAGTCATGGTAATGCAGTGCACCAGCCCTCAGGGCTCACCAGCCAACCTCAAGTACTGTATCAGAACAATGGATTATATAGCTCACATGGCTTTGGAACAAGACCACTGGATCCAGGAACAGCAGGTCCCAGAGTTTGGTACAGGCCAATTCCAAGTCATATGCCTAGTCTGCATAATATCCCAGTGCCTGAGACCAACTATCTAGGAAATACACCCACCATGCCATTCAGCTCCTTGCCACCAACAGGTAAATGGGTCTTCGATAGTCACAAGCTTGTCTTTTTTTATTTTTCAGAAAATACAGCAACCAAGCAGCTCTATTATAGATTGTGGGTTATAATGGGGACAGAGGGCATCATCAGCTGCCAGATGCAAATTGCCCCTGTGGAATGGACCCTGCCAAACCACTTGGTCTGGGAGTATTTCATCTGGGGCTAGGATTCATCACAGATGCCCGCAAGCATCGGGTTACAGGTCCTTGTGACTGGCAGGCATCTTTGACTCTAACCTGGAGTGCATAGTA
ATGATGCCACAAGTGGAAAATACCACACCTGACACCTCTGCTTTCTGATAGTTCAGTATCCTCAAACTTTGTTTCATGCACAAAATTATTAAAATATGGTATAAAGTGACCTTCAGGCTATGTGTATAAGGTGCATATGAAACACAAATAAACTTCATGTTTAGACTTAGGTCCTCTCCCCACGATCTGTCATTCTGTACATGCAAATATTCCCAAATTGGAAACAATCCAAAATCCAAAACACTTCTAATCCCAAGCATTTTGGATAAGGGATACTACACCTGCACCATATTTTGAGTTCCTGCCTTCAGTTCTTTGGGGTATATATATCCGGGTGTGGAATTGCTAGATCATATGGTAATTCTATGTATAACTTTTTGTTTTTCTGAGACAGAGTCTCCCTCTGTTGCCCAGGCTGGAATGCAGTGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCACCTTCCCGAGTAGCTGGGATTACAGGCATACACCACCACGCCCGGCTAGTTTTTTGTATTTTTAGTAGAGATGGGGTGGTTTCACCATGTTGTCCAGGCTGGTCTCAAACTCCTAACCTCAGGTGATCTGAGGTCCCAAAGTGCTGGGATTACAGGCGTGAGCTCCCATGCCCGGCCATGTTTAACTTTTAAGTACTGTTAAAATTGTTTTACATGGTAGCTACACCATTTTATATTCCCCACCAGCAATGCACAAGGATTCTAATTTCTCCACCATCTTACCAACACTTTTTATTTACCATTTTTATATTATAGTCACTCTAAGGAGTGTGAAAGTGTACCTCATGGTGGTTTTGACTTGCATTTCCCTATGACTCATGATGTTGAGCATCTTCATGGCTTATTGGCCATTTGTATATCTTCTATGGAGAAACTGCTATTCAAGTTCTTTGCCCATTTTTGAATTGGGTTGTTTGTTTTTTGTTGTTGAGTTGTAGGATTTTTTTTTTTTATGTTCTGGATTTCATCCGTTTTCAGATATATATTGTTTGCAACTTTTTCCCCATTATTTTATTTTATTTATTTATTTTTTTTTTGGAGACAGAATCTTGCTCTGTCGCCACCCAGACTGGAGTGCAGTGGCAGAATGTTGGTTCACTGCAACCTCTGCCTCCCAGGTTCAAGAGATAACTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACACACCATCATGCCTGGTTAGTTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCTGGCAGGTCTCGAACTCCTGACCTCATGGGATCCACCTGCCTTGGCCTCCCAAAGTATTTTTTCCTTATTCTGTAGGTTATCTTTTTACTCTTTTCATAGTATCCTTTGATGCACAGAAGCTTTTAATTCTGATGTATTATTTTTACTCTTTACTTTTGTTTGTGCTTTTGTGTCATAACCAAGAAATCGCTGCCAAGTCCAATGTCATGAAGCTTTTTCCCTGTGTTTTCTTCTAAGAATTTTTGTGGCACTAGCCCTTAAATTAAGTCTTTGATCCATTGTGAGTTAATTTTTATATGGTATGAAATAAGGGTCCAACTTCATTATTTCATATGTGTATATTCAGTTTTCCCCCATCGAATGCTCTTGGCAACCTTGTCAAAAATCAATTGGCCATTTATAGGAGGGTTTATTCCTAGGCTTTCCATTCTGCCCCACTGGCATATGTGCCTGTCTTTATGCCAGTCCTACGCTGTTTTGAATACTGTAGCTTTGTAGTAAGTTTTGAAATCAGGAAGTGTGAGTCCTACAACCTTGTTCTTTTTAAAGATCATTTTGGCTATTTGGGAAAAACATTAATTTTAAAAAATTACTACTTGTAAGATCTGTGTGAAATTTCTACCTTCTGAAAATATGAATTCTTCTCGTTAAAATTTTCTGGGACTCTATTTCCTGCTGTTCACTAAAGTGTGTATTTATGCTCTTAATTATAGAAAGAGTATTCAAACGAAAATGCAGTTGTGAAGAGAATGCAGTCTCTTCAACTTGTTTGTGTGGCAGTACCTTCAAGCCGGTCAAATTCAGGTAAATTACACTATGGTCAAAATCTATTCATTTATTTGTTTGGTTACTCATTCACTCCACTCTCTAAAAGACTATTCAGGACCATATGGGAAACAGAAGAAACTATAAAAGTGAACACCTGCCTTACAGGAATTTATAATAATATTCGAGAGTCAAGTTACATGTATTTGAAATATGAAGTAACAGTGTGCTCACCAGTCATAGAGTGTTCTGAACAAAAGGCCTAATATATCTGATGGGGAGAAGTGACAGTTCAGAAGAAGGAAGGGGACATATGTGAGAGCAAAGTCCCTGAGGAGCTCGGAGTGACTTACAGCCAGGGTACAAGCAGAGAGGCTGGTCTCAGGTCAAGTAGGGATACTTTTTTCACTGTAACAAAAGGGATGGCAGAGTATAGGATACTGAAGCCGCTTAGCTACCTGATCTGTGGCTAATTACTTAACCTCTTCTAAACTTCACTCATCAAATCATAATTGCTCCTCCTCTCATAGGGCTCTTCAAGAATGAAAGAATTCATGGGACATGCTTAGGACAGAGCTGCTGCAGATCTTTTTTTTTTGGAGACAGAGTCTGTCACCCCGGCTGGAGTGCAGTAGTGTGATCTTGGCTCACTACAACCTCCGCCTTTCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGCAGCAGGGATTACAGGCATGCACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGTCCGCCTCAGCCTCCCAACGTGCTAGGATTACAGGCGTGAGCCACCGCACCCAGCCACAGATCTTATTTTCCACCTGAATTGCTCCAAGGAGACAACCACCTTCTCTGCTCCAAACCAAGTCCCTTTTTTCCTTGATCATCCCTGCAACAGCCGCTTTTCTCTTGCTTGCTATAATTTTCCTAGTACTCTCTTACTGCCAGCGAGGAGCTCCTATTATTATTTGTAAAGCTTGTGGGAAGAGGACCATCTCCTAAATGCTTTGGACTGGTCTCGTACTTGTTTTCTGTGTGTTACTTTGAGATACAGATTCATGACGGCGCTCAGATTTTATTTTACTTTTTAATGTTTCATGACACCCATTCTAATGTTGATCATTTCTTCTCAGCCACAGAACAGCCTGGTTCACTGCACAGTTCCCAGGGACTTGGGATGGGTCCTGTGGAGGAGTCCTGGTTTGCTCCTTCCCTGGAGCACCCACAAGAAGAGAATGAGCCCAGCCTGCAGAGTAAACTCCAAGACGAAGCCAACTACCATCTTTATGGCAGCCGCATGGACAGGCAGACGAAACAGCAGCCCAGACAGAATGTGGCTTACAACAGAGAGGAGGAAAGGAGACGCAGGGTCTCCCATGACCCTTTTGCACAGCAAAGACCTTACGAGAATTTTCAGAATACAGAGGGAAAAGGCACTGCTTATTCCAGTGCAGCCAGTCATGGTAATGCAGTGCACCAGCCCTCAGGGCTCACCAGCCAACCTCAAGTACTGTATCAGAACAATGGATTATATAGCTCACATGGCTTTGGAACAAGACCACTGGATCCAGGAACAGCAGGTCCCAGAGTTTGGTACAGGCCAATTCCAAGTCATATGCCTAGTCTGCATAATATCCCAGTGCCTGAGACCAACTATCTAGGAAATACACCCACCATGCCATTCAGCTCCTTGCCACCAACAGGTAAATGGGTCTTCGATAGTCACAAGCTTGTCTTTTTTTATTTTTCAGAAAATACAGCAACCAAGCAGCTCTATTATAGATTGTGGGTTATAATGGGGACAGAGGGCATCATCAGCTGCCAGATGCAAATTGCCCCTGTGGAATGGACCCTGCCAAACCACTTGGTCTGGGAGTATTTCATCTGGGGCTAGGATTCATCACAGATGCCCGCAAGCATCGGGTTACAGGTCCTTGTGACTGGCAGGCATCTTTGACTCTAACCTGGAGTGCATAGTA
Task1_train_9951
This variant lies on Chromosome 6 and affects the gene RIPK1 (receptor interacting serine/threonine kinase 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; IL10-related early-onset inflammatory bowel disease
CTGCAAAATATCTTTGTAATTTCCATATAATTCCTTTGTCATTTATTTATTTTTAATATGGAGATAATCACAGTATTTAATTTATGGATTTGTTGTGAAAATTAAATGAGTTGATATGTATAAAAAGCTTAGAACACTGCCTGGCACATAGTAAGTTCTATAAAAAGTGTTAAACTTTCATCATCATCATCATCAGTATTACTTCTCAGACCCAGAAGAAATAGCTGTGTCAGGCCCTCATCGAAGGAGATCCTGTAAAAGATAGAAGACTGTGCCCTCCACAGCACTTCTGTAATAAAATCAAGAGGGCTATCTCTTATAGGGTTCTATGGTGCAGCCCATAATGCTAATCCCAAAGTACAGTCTGGAAAAAGTCATGAGGCCAAAACGACTTGATTAAGAACTCAGCTTTCTAATTAACCATGGGATTGGCGCTTTTTTTTTTTTTTTCTGTAAAGGAACCAATAGTAAATGTTAGGCCCTGCTGGCTTTGAGGTCTCTTGGAACTACTCACCTCTCTTATTGTAGTGCAAAAGCAACCACAGACAATATGTACATGAATGAGCACGGCTGTGTTCCAATAAAAGTGGATTTACAAATGCTGGCAGGAGTCAGATTTGGCCCACAGGCCATAGTTGGCCAACCCCTGGTCTAACCCATTTGAAGGACAGCTTTTAAAATACCTAGAACAGAACTTGCGAATGGTCAGGGGCACCTGTGAGAATCTAATGAAACCCAGGATCTACCCCCTACAGAAATATTGACAAAATTTGGAAAATATCTTGGGAAGTTCTTGGACTGCTGACAATCTATAAGATATGGATAGAGAGAGAGCCACATCACAGAGGGCTGAGGAAAGAAGAGAGGTGGGAAGGAAGAATGAAATGTTTTCTTCCTTATATTCTGTTTAATGAGGTAGTGTGGGGATTAAGGAATTTTTTTTGTTGTGGTTGTTGTACATTTTCATTTGTTTCCTTTTATTATTTTTATGAAGGGCGAAGGGAAGGAACCAGTAGAAGGAGAGAGGTTATGGCTATTGGAGAAGAGGCAATGTCGGTCGGCAGTGGGGTGGAGTAAAGGAGGGGTTAGGGTCCAAAAACAGACCTTGAAGAGTATAGTTACCTCGTCGCTTGAAAGACAAGGAAGGCTTTGTAACTGAATGGGTTCACGCCTGCTGGACAATTCCTTGATTAAGTAAGAGGAAAGTGAACTGTTGGGCCGGGGTGGTGGTCAGGAGTTGAGCGGCTTTAACTCTGGCCAGATGTAAGCGGAGAATGTCTAAAAGGAACAAAAATGGTGGTTTTCCCTTTACACCCAGGAAGGTCTAATACCAACAGGATCACTGGCTAAGATTGACTAGAACACCCAACCTCGTAGCCACACAGGGGTTTTGTTCACAGAGCCATCAGCTGTGGCTCAGGGATGTGTCTACTAGGAGGAAGGAATGCCTTATTCTTTTTTGTTTTGTTTTTGAGACAACATCCTGCTCTGTGGCCCAGGCTGAAGTACAGGGGCACAGTCATGGCTCACTGCAGCCTCGAACTCCTGAGTTCAAGTGATCCTCCTGTCTCAGCCTCCTCAGTAACTGGGACTACAGGCATGTGCCACCATACCCAGCTAATTAAAAAAAATTTTTTTTTTGGTAGAGACAGGTTCTTGCTGTGTTGCCCAGGACTGGTCTAGAACTCCCGGGTTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGTTGGGATTATAGGCATGAGCCACCACGCCAGGCCGGGAATGCCCTATTCTAATTCACATAAAGACTCCATGTGGGCTAGCAGGCATGTGAAATGTCTGCCAGTGCATCAACAGCTATATAACTAAGAAGTTATCTTTTTCACTGTCTTCTGGTACTCTTCATTTCACTTGGGTTTTTTAGCAATTCAGGAAGCTGGAATGTTTGAATGGGTTTTAGCTTGATACCTTCTTCTTTTTCCCATTTGGCAGATAATACCACTAGTCTGACGGATAAACACCTGGACCCAATCAGGGAAAATCTGGGAAAGCACTGGAAAAACTGTGCCCGTAAACTGGGCTTCACACAGTCTCAGATTGATGAAATTGACCATGACTATGAGCGAGATGGACTGAAAGAAAAGGTTTACCAGATGCTCCAAAAGTGGGTGATGAGGGAAGGCATAAAGGGAGCCACGGTGGGGAAGCTGGCCCAGGCGCTCCACCAGTGTTCCAGGATCGACCTTCTGAGCAGCTTGATTTACGTCAGCCAGAACTAACCCTGGATGGGCTACGGCAGCTGAAGTGGACGCCTCACTTAGTGGATAACCCCAGAAAGTTGGCTGCCTCAGAGCATTCAGAATTCTGTCCTCACTGATAGGGGTTCTGTGTCTGCAGAAATTTTGTTTCCTGTACTTCATAGCTGGAGAATGGGGAAAGAAATCTGCAGCAAAGGGGTCTCACTCTGTTGCCAGGCTGGTCTCAAACTTCTGGACTCAAGTGATCCTCCCGCCTCGGCCTTCCAAAGTGCTGGGATATCAGGCACTGAGCCACTGCGCCCAGCCAACAATCCGCTCTGAGGAAAGCGTAAGCAGGAAGACCTCTTAATGGCATAGCACCAATAAAAAAATGACTCCTAGTTGTGTTTGGAAAGGGAGAGAAGAGATGTCTGAGGAAGGTCATGTTCTTTCAGCTTATGGCATTTCCTAGAGTTTTGTTGAAGCAAGAAGAAAAACTCAGAGAATATAAAATCAACTTTTAAAATTGTGTGCTCTCTTCTTCACGTAGGCTCCTGTTAAAAACAAAGTGCAGTCAGATTCTAAGCCCTGTTCAGAGACTTCGTGGATCACAGCTGCAGCTCACCGCCACATCACAGGATCCGTTAACGTTAATACCCAATACTCTGTCAGCCACTGTAGGCTCTAAGAACCACGTGCAGTCTTCAGCCCATTAAATTATCGATTATTTTTTAATGAATTGAATTTATATTGAGTCTTCAAATTAACTGAATGGATTTAAAGGGGTACCAAGGAGGGGGGAAACATCAGAATTTCCCAGGCAGTTGTTGCAAGGAATTGGTACTAACCGTGACTACAACAAAAATTCTTGATTGACTTTTAAAGTTATTTCCTGGCATTCTGGTACCTTCACCCAGCCTGAGTGCCCTGGAGAGGGAACAGGAAATGCTGATCTCTACCCCTGGGTGAGACCAGAACCTCAGGGCTGATACTGTTGAGTGGCTTCCTCGGTTTACTCTGTGTACTGTGAAAGTATTTTCATATTTTTTCTGTGTGCCAGAGTGAAAAAGGACAGCTTCTGAGTGTGGTAATTGTGCCTCTAGCACCCAGCCTTTCAAAGCCCACCTGAAACCTGGGGGTGGATGAAAGAACTAGAATAGAAGACTGAAGCTGGGTAGGCCGCTCAGTGTCCACTGGCATTTTGCTAAACCGACAAGGAAGGCTGTGTGCTTAGCTCTCCCCAGAGGGAGGGCGAGAAGGGTGTGGTGATGGTCAATCTGGCTGTCGGAACAGATTCTGGTGTCTTGGGCTGATAACAGTGTTGTTGATTCTGATTGTGAATCCCCTCAACTCTAGCAGACACATACACACCCCTGAAATGGGGCTGCAGAGCAGGCTGTCTCAGCCTTGCCACTGTCGGCATCTCGGCCTGGGTAATTCTGTTGTGGGGACTGTCCTGTTCCTTGTAGGATGTTTAGTAGCATCCCTGCCCCCACCTACTAGATGCCAGGGGCACTGTTCTCCCCAGCCCCCCGCCCCAGTTGTGACAATAGTCTCTAAACATTGTCAAATGGTCCAAGGAAAGGGGAAAATTGCCCCGGTTGAGAAGAGCACTGCTGTAAAGTAATGAGCCTCGGCTCTCCTGTCTGCACCTGTCCGGTTACTACTTGGCCACCACGCAGCCTTGGCTCCTACAGCCCAAAAGGGAGAATGGAGGGAGGCTCCAGGCTTTGCTGGAGGGGCCTGGGTGAGTTCTGTTTGCTCCTTGTACCACCATCCAAATGGTGTTATCAAATCTCTTAGATTCCAAAGAGGTTGAATAATTAATGTTCAAAGGCAAGAGGGCAAGGCATTTTTTAACACTTTTTAAAATAA
CTGCAAAATATCTTTGTAATTTCCATATAATTCCTTTGTCATTTATTTATTTTTAATATGGAGATAATCACAGTATTTAATTTATGGATTTGTTGTGAAAATTAAATGAGTTGATATGTATAAAAAGCTTAGAACACTGCCTGGCACATAGTAAGTTCTATAAAAAGTGTTAAACTTTCATCATCATCATCATCAGTATTACTTCTCAGACCCAGAAGAAATAGCTGTGTCAGGCCCTCATCGAAGGAGATCCTGTAAAAGATAGAAGACTGTGCCCTCCACAGCACTTCTGTAATAAAATCAAGAGGGCTATCTCTTATAGGGTTCTATGGTGCAGCCCATAATGCTAATCCCAAAGTACAGTCTGGAAAAAGTCATGAGGCCAAAACGACTTGATTAAGAACTCAGCTTTCTAATTAACCATGGGATTGGCGCTTTTTTTTTTTTTTTCTGTAAAGGAACCAATAGTAAATGTTAGGCCCTGCTGGCTTTGAGGTCTCTTGGAACTACTCACCTCTCTTATTGTAGTGCAAAAGCAACCACAGACAATATGTACATGAATGAGCACGGCTGTGTTCCAATAAAAGTGGATTTACAAATGCTGGCAGGAGTCAGATTTGGCCCACAGGCCATAGTTGGCCAACCCCTGGTCTAACCCATTTGAAGGACAGCTTTTAAAATACCTAGAACAGAACTTGCGAATGGTCAGGGGCACCTGTGAGAATCTAATGAAACCCAGGATCTACCCCCTACAGAAATATTGACAAAATTTGGAAAATATCTTGGGAAGTTCTTGGACTGCTGACAATCTATAAGATATGGATAGAGAGAGAGCCACATCACAGAGGGCTGAGGAAAGAAGAGAGGTGGGAAGGAAGAATGAAATGTTTTCTTCCTTATATTCTGTTTAATGAGGTAGTGTGGGGATTAAGGAATTTTTTTTGTTGTGGTTGTTGTACATTTTCATTTGTTTCCTTTTATTATTTTTATGAAGGGCGAAGGGAAGGAACCAGTAGAAGGAGAGAGGTTATGGCTATTGGAGAAGAGGCAATGTCGGTCGGCAGTGGGGTGGAGTAAAGGAGGGGTTAGGGTCCAAAAACAGACCTTGAAGAGTATAGTTACCTCGTCGCTTGAAAGACAAGGAAGGCTTTGTAACTGAATGGGTTCACGCCTGCTGGACAATTCCTTGATTAAGTAAGAGGAAAGTGAACTGTTGGGCCGGGGTGGTGGTCAGGAGTTGAGCGGCTTTAACTCTGGCCAGATGTAAGCGGAGAATGTCTAAAAGGAACAAAAATGGTGGTTTTCCCTTTACACCCAGGAAGGTCTAATACCAACAGGATCACTGGCTAAGATTGACTAGAACACCCAACCTCGTAGCCACACAGGGGTTTTGTTCACAGAGCCATCAGCTGTGGCTCAGGGATGTGTCTACTAGGAGGAAGGAATGCCTTATTCTTTTTTGTTTTGTTTTTGAGACAACATCCTGCTCTGTGGCCCAGGCTGAAGTACAGGGGCACAGTCATGGCTCACTGCAGCCTCGAACTCCTGAGTTCAAGTGATCCTCCTGTCTCAGCCTCCTCAGTAACTGGGACTACAGGCATGTGCCACCATACCCAGCTAATTAAAAAAAATTTTTTTTTTGGTAGAGACAGGTTCTTGCTGTGTTGCCCAGGACTGGTCTAGAACTCCCGGGTTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGTTGGGATTATAGGCATGAGCCACCACGCCAGGCCGGGAATGCCCTATTCTAATTCACATAAAGACTCCATGTGGGCTAGCAGGCATGTGAAATGTCTGCCAGTGCATCAACAGCTATATAACTAAGAAGTTATCTTTTTCACTGTCTTCTGGTACTCTTCATTTCACTTGGGTTTTTTAGCAATTCAGGAAGCTGGAATGTTTGAATGGGTTTTAGCTTGATACCTTCTTCTTTTTCCCATTTGGCAGATAATACCACTAGTCTGACGGATAAACACCTGGACCCAATCAGGGAAAATCTGGGAAAGCACTGGAAAAACTATGCCCGTAAACTGGGCTTCACACAGTCTCAGATTGATGAAATTGACCATGACTATGAGCGAGATGGACTGAAAGAAAAGGTTTACCAGATGCTCCAAAAGTGGGTGATGAGGGAAGGCATAAAGGGAGCCACGGTGGGGAAGCTGGCCCAGGCGCTCCACCAGTGTTCCAGGATCGACCTTCTGAGCAGCTTGATTTACGTCAGCCAGAACTAACCCTGGATGGGCTACGGCAGCTGAAGTGGACGCCTCACTTAGTGGATAACCCCAGAAAGTTGGCTGCCTCAGAGCATTCAGAATTCTGTCCTCACTGATAGGGGTTCTGTGTCTGCAGAAATTTTGTTTCCTGTACTTCATAGCTGGAGAATGGGGAAAGAAATCTGCAGCAAAGGGGTCTCACTCTGTTGCCAGGCTGGTCTCAAACTTCTGGACTCAAGTGATCCTCCCGCCTCGGCCTTCCAAAGTGCTGGGATATCAGGCACTGAGCCACTGCGCCCAGCCAACAATCCGCTCTGAGGAAAGCGTAAGCAGGAAGACCTCTTAATGGCATAGCACCAATAAAAAAATGACTCCTAGTTGTGTTTGGAAAGGGAGAGAAGAGATGTCTGAGGAAGGTCATGTTCTTTCAGCTTATGGCATTTCCTAGAGTTTTGTTGAAGCAAGAAGAAAAACTCAGAGAATATAAAATCAACTTTTAAAATTGTGTGCTCTCTTCTTCACGTAGGCTCCTGTTAAAAACAAAGTGCAGTCAGATTCTAAGCCCTGTTCAGAGACTTCGTGGATCACAGCTGCAGCTCACCGCCACATCACAGGATCCGTTAACGTTAATACCCAATACTCTGTCAGCCACTGTAGGCTCTAAGAACCACGTGCAGTCTTCAGCCCATTAAATTATCGATTATTTTTTAATGAATTGAATTTATATTGAGTCTTCAAATTAACTGAATGGATTTAAAGGGGTACCAAGGAGGGGGGAAACATCAGAATTTCCCAGGCAGTTGTTGCAAGGAATTGGTACTAACCGTGACTACAACAAAAATTCTTGATTGACTTTTAAAGTTATTTCCTGGCATTCTGGTACCTTCACCCAGCCTGAGTGCCCTGGAGAGGGAACAGGAAATGCTGATCTCTACCCCTGGGTGAGACCAGAACCTCAGGGCTGATACTGTTGAGTGGCTTCCTCGGTTTACTCTGTGTACTGTGAAAGTATTTTCATATTTTTTCTGTGTGCCAGAGTGAAAAAGGACAGCTTCTGAGTGTGGTAATTGTGCCTCTAGCACCCAGCCTTTCAAAGCCCACCTGAAACCTGGGGGTGGATGAAAGAACTAGAATAGAAGACTGAAGCTGGGTAGGCCGCTCAGTGTCCACTGGCATTTTGCTAAACCGACAAGGAAGGCTGTGTGCTTAGCTCTCCCCAGAGGGAGGGCGAGAAGGGTGTGGTGATGGTCAATCTGGCTGTCGGAACAGATTCTGGTGTCTTGGGCTGATAACAGTGTTGTTGATTCTGATTGTGAATCCCCTCAACTCTAGCAGACACATACACACCCCTGAAATGGGGCTGCAGAGCAGGCTGTCTCAGCCTTGCCACTGTCGGCATCTCGGCCTGGGTAATTCTGTTGTGGGGACTGTCCTGTTCCTTGTAGGATGTTTAGTAGCATCCCTGCCCCCACCTACTAGATGCCAGGGGCACTGTTCTCCCCAGCCCCCCGCCCCAGTTGTGACAATAGTCTCTAAACATTGTCAAATGGTCCAAGGAAAGGGGAAAATTGCCCCGGTTGAGAAGAGCACTGCTGTAAAGTAATGAGCCTCGGCTCTCCTGTCTGCACCTGTCCGGTTACTACTTGGCCACCACGCAGCCTTGGCTCCTACAGCCCAAAAGGGAGAATGGAGGGAGGCTCCAGGCTTTGCTGGAGGGGCCTGGGTGAGTTCTGTTTGCTCCTTGTACCACCATCCAAATGGTGTTATCAAATCTCTTAGATTCCAAAGAGGTTGAATAATTAATGTTCAAAGGCAAGAGGGCAAGGCATTTTTTAACACTTTTTAAAATAA
Task1_train_9952
This variant lies on Chromosome 6 and affects the gene RIPK1 (receptor interacting serine/threonine kinase 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Inborn error of immunity
CTGCAAAATATCTTTGTAATTTCCATATAATTCCTTTGTCATTTATTTATTTTTAATATGGAGATAATCACAGTATTTAATTTATGGATTTGTTGTGAAAATTAAATGAGTTGATATGTATAAAAAGCTTAGAACACTGCCTGGCACATAGTAAGTTCTATAAAAAGTGTTAAACTTTCATCATCATCATCATCAGTATTACTTCTCAGACCCAGAAGAAATAGCTGTGTCAGGCCCTCATCGAAGGAGATCCTGTAAAAGATAGAAGACTGTGCCCTCCACAGCACTTCTGTAATAAAATCAAGAGGGCTATCTCTTATAGGGTTCTATGGTGCAGCCCATAATGCTAATCCCAAAGTACAGTCTGGAAAAAGTCATGAGGCCAAAACGACTTGATTAAGAACTCAGCTTTCTAATTAACCATGGGATTGGCGCTTTTTTTTTTTTTTTCTGTAAAGGAACCAATAGTAAATGTTAGGCCCTGCTGGCTTTGAGGTCTCTTGGAACTACTCACCTCTCTTATTGTAGTGCAAAAGCAACCACAGACAATATGTACATGAATGAGCACGGCTGTGTTCCAATAAAAGTGGATTTACAAATGCTGGCAGGAGTCAGATTTGGCCCACAGGCCATAGTTGGCCAACCCCTGGTCTAACCCATTTGAAGGACAGCTTTTAAAATACCTAGAACAGAACTTGCGAATGGTCAGGGGCACCTGTGAGAATCTAATGAAACCCAGGATCTACCCCCTACAGAAATATTGACAAAATTTGGAAAATATCTTGGGAAGTTCTTGGACTGCTGACAATCTATAAGATATGGATAGAGAGAGAGCCACATCACAGAGGGCTGAGGAAAGAAGAGAGGTGGGAAGGAAGAATGAAATGTTTTCTTCCTTATATTCTGTTTAATGAGGTAGTGTGGGGATTAAGGAATTTTTTTTGTTGTGGTTGTTGTACATTTTCATTTGTTTCCTTTTATTATTTTTATGAAGGGCGAAGGGAAGGAACCAGTAGAAGGAGAGAGGTTATGGCTATTGGAGAAGAGGCAATGTCGGTCGGCAGTGGGGTGGAGTAAAGGAGGGGTTAGGGTCCAAAAACAGACCTTGAAGAGTATAGTTACCTCGTCGCTTGAAAGACAAGGAAGGCTTTGTAACTGAATGGGTTCACGCCTGCTGGACAATTCCTTGATTAAGTAAGAGGAAAGTGAACTGTTGGGCCGGGGTGGTGGTCAGGAGTTGAGCGGCTTTAACTCTGGCCAGATGTAAGCGGAGAATGTCTAAAAGGAACAAAAATGGTGGTTTTCCCTTTACACCCAGGAAGGTCTAATACCAACAGGATCACTGGCTAAGATTGACTAGAACACCCAACCTCGTAGCCACACAGGGGTTTTGTTCACAGAGCCATCAGCTGTGGCTCAGGGATGTGTCTACTAGGAGGAAGGAATGCCTTATTCTTTTTTGTTTTGTTTTTGAGACAACATCCTGCTCTGTGGCCCAGGCTGAAGTACAGGGGCACAGTCATGGCTCACTGCAGCCTCGAACTCCTGAGTTCAAGTGATCCTCCTGTCTCAGCCTCCTCAGTAACTGGGACTACAGGCATGTGCCACCATACCCAGCTAATTAAAAAAAATTTTTTTTTTGGTAGAGACAGGTTCTTGCTGTGTTGCCCAGGACTGGTCTAGAACTCCCGGGTTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGTTGGGATTATAGGCATGAGCCACCACGCCAGGCCGGGAATGCCCTATTCTAATTCACATAAAGACTCCATGTGGGCTAGCAGGCATGTGAAATGTCTGCCAGTGCATCAACAGCTATATAACTAAGAAGTTATCTTTTTCACTGTCTTCTGGTACTCTTCATTTCACTTGGGTTTTTTAGCAATTCAGGAAGCTGGAATGTTTGAATGGGTTTTAGCTTGATACCTTCTTCTTTTTCCCATTTGGCAGATAATACCACTAGTCTGACGGATAAACACCTGGACCCAATCAGGGAAAATCTGGGAAAGCACTGGAAAAACTGTGCCCGTAAACTGGGCTTCACACAGTCTCAGATTGATGAAATTGACCATGACTATGAGCGAGATGGACTGAAAGAAAAGGTTTACCAGATGCTCCAAAAGTGGGTGATGAGGGAAGGCATAAAGGGAGCCACGGTGGGGAAGCTGGCCCAGGCGCTCCACCAGTGTTCCAGGATCGACCTTCTGAGCAGCTTGATTTACGTCAGCCAGAACTAACCCTGGATGGGCTACGGCAGCTGAAGTGGACGCCTCACTTAGTGGATAACCCCAGAAAGTTGGCTGCCTCAGAGCATTCAGAATTCTGTCCTCACTGATAGGGGTTCTGTGTCTGCAGAAATTTTGTTTCCTGTACTTCATAGCTGGAGAATGGGGAAAGAAATCTGCAGCAAAGGGGTCTCACTCTGTTGCCAGGCTGGTCTCAAACTTCTGGACTCAAGTGATCCTCCCGCCTCGGCCTTCCAAAGTGCTGGGATATCAGGCACTGAGCCACTGCGCCCAGCCAACAATCCGCTCTGAGGAAAGCGTAAGCAGGAAGACCTCTTAATGGCATAGCACCAATAAAAAAATGACTCCTAGTTGTGTTTGGAAAGGGAGAGAAGAGATGTCTGAGGAAGGTCATGTTCTTTCAGCTTATGGCATTTCCTAGAGTTTTGTTGAAGCAAGAAGAAAAACTCAGAGAATATAAAATCAACTTTTAAAATTGTGTGCTCTCTTCTTCACGTAGGCTCCTGTTAAAAACAAAGTGCAGTCAGATTCTAAGCCCTGTTCAGAGACTTCGTGGATCACAGCTGCAGCTCACCGCCACATCACAGGATCCGTTAACGTTAATACCCAATACTCTGTCAGCCACTGTAGGCTCTAAGAACCACGTGCAGTCTTCAGCCCATTAAATTATCGATTATTTTTTAATGAATTGAATTTATATTGAGTCTTCAAATTAACTGAATGGATTTAAAGGGGTACCAAGGAGGGGGGAAACATCAGAATTTCCCAGGCAGTTGTTGCAAGGAATTGGTACTAACCGTGACTACAACAAAAATTCTTGATTGACTTTTAAAGTTATTTCCTGGCATTCTGGTACCTTCACCCAGCCTGAGTGCCCTGGAGAGGGAACAGGAAATGCTGATCTCTACCCCTGGGTGAGACCAGAACCTCAGGGCTGATACTGTTGAGTGGCTTCCTCGGTTTACTCTGTGTACTGTGAAAGTATTTTCATATTTTTTCTGTGTGCCAGAGTGAAAAAGGACAGCTTCTGAGTGTGGTAATTGTGCCTCTAGCACCCAGCCTTTCAAAGCCCACCTGAAACCTGGGGGTGGATGAAAGAACTAGAATAGAAGACTGAAGCTGGGTAGGCCGCTCAGTGTCCACTGGCATTTTGCTAAACCGACAAGGAAGGCTGTGTGCTTAGCTCTCCCCAGAGGGAGGGCGAGAAGGGTGTGGTGATGGTCAATCTGGCTGTCGGAACAGATTCTGGTGTCTTGGGCTGATAACAGTGTTGTTGATTCTGATTGTGAATCCCCTCAACTCTAGCAGACACATACACACCCCTGAAATGGGGCTGCAGAGCAGGCTGTCTCAGCCTTGCCACTGTCGGCATCTCGGCCTGGGTAATTCTGTTGTGGGGACTGTCCTGTTCCTTGTAGGATGTTTAGTAGCATCCCTGCCCCCACCTACTAGATGCCAGGGGCACTGTTCTCCCCAGCCCCCCGCCCCAGTTGTGACAATAGTCTCTAAACATTGTCAAATGGTCCAAGGAAAGGGGAAAATTGCCCCGGTTGAGAAGAGCACTGCTGTAAAGTAATGAGCCTCGGCTCTCCTGTCTGCACCTGTCCGGTTACTACTTGGCCACCACGCAGCCTTGGCTCCTACAGCCCAAAAGGGAGAATGGAGGGAGGCTCCAGGCTTTGCTGGAGGGGCCTGGGTGAGTTCTGTTTGCTCCTTGTACCACCATCCAAATGGTGTTATCAAATCTCTTAGATTCCAAAGAGGTTGAATAATTAATGTTCAAAGGCAAGAGGGCAAGGCATTTTTTAACACTTTTTAAAATAA
CTGCAAAATATCTTTGTAATTTCCATATAATTCCTTTGTCATTTATTTATTTTTAATATGGAGATAATCACAGTATTTAATTTATGGATTTGTTGTGAAAATTAAATGAGTTGATATGTATAAAAAGCTTAGAACACTGCCTGGCACATAGTAAGTTCTATAAAAAGTGTTAAACTTTCATCATCATCATCATCAGTATTACTTCTCAGACCCAGAAGAAATAGCTGTGTCAGGCCCTCATCGAAGGAGATCCTGTAAAAGATAGAAGACTGTGCCCTCCACAGCACTTCTGTAATAAAATCAAGAGGGCTATCTCTTATAGGGTTCTATGGTGCAGCCCATAATGCTAATCCCAAAGTACAGTCTGGAAAAAGTCATGAGGCCAAAACGACTTGATTAAGAACTCAGCTTTCTAATTAACCATGGGATTGGCGCTTTTTTTTTTTTTTTCTGTAAAGGAACCAATAGTAAATGTTAGGCCCTGCTGGCTTTGAGGTCTCTTGGAACTACTCACCTCTCTTATTGTAGTGCAAAAGCAACCACAGACAATATGTACATGAATGAGCACGGCTGTGTTCCAATAAAAGTGGATTTACAAATGCTGGCAGGAGTCAGATTTGGCCCACAGGCCATAGTTGGCCAACCCCTGGTCTAACCCATTTGAAGGACAGCTTTTAAAATACCTAGAACAGAACTTGCGAATGGTCAGGGGCACCTGTGAGAATCTAATGAAACCCAGGATCTACCCCCTACAGAAATATTGACAAAATTTGGAAAATATCTTGGGAAGTTCTTGGACTGCTGACAATCTATAAGATATGGATAGAGAGAGAGCCACATCACAGAGGGCTGAGGAAAGAAGAGAGGTGGGAAGGAAGAATGAAATGTTTTCTTCCTTATATTCTGTTTAATGAGGTAGTGTGGGGATTAAGGAATTTTTTTTGTTGTGGTTGTTGTACATTTTCATTTGTTTCCTTTTATTATTTTTATGAAGGGCGAAGGGAAGGAACCAGTAGAAGGAGAGAGGTTATGGCTATTGGAGAAGAGGCAATGTCGGTCGGCAGTGGGGTGGAGTAAAGGAGGGGTTAGGGTCCAAAAACAGACCTTGAAGAGTATAGTTACCTCGTCGCTTGAAAGACAAGGAAGGCTTTGTAACTGAATGGGTTCACGCCTGCTGGACAATTCCTTGATTAAGTAAGAGGAAAGTGAACTGTTGGGCCGGGGTGGTGGTCAGGAGTTGAGCGGCTTTAACTCTGGCCAGATGTAAGCGGAGAATGTCTAAAAGGAACAAAAATGGTGGTTTTCCCTTTACACCCAGGAAGGTCTAATACCAACAGGATCACTGGCTAAGATTGACTAGAACACCCAACCTCGTAGCCACACAGGGGTTTTGTTCACAGAGCCATCAGCTGTGGCTCAGGGATGTGTCTACTAGGAGGAAGGAATGCCTTATTCTTTTTTGTTTTGTTTTTGAGACAACATCCTGCTCTGTGGCCCAGGCTGAAGTACAGGGGCACAGTCATGGCTCACTGCAGCCTCGAACTCCTGAGTTCAAGTGATCCTCCTGTCTCAGCCTCCTCAGTAACTGGGACTACAGGCATGTGCCACCATACCCAGCTAATTAAAAAAAATTTTTTTTTTGGTAGAGACAGGTTCTTGCTGTGTTGCCCAGGACTGGTCTAGAACTCCCGGGTTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGTTGGGATTATAGGCATGAGCCACCACGCCAGGCCGGGAATGCCCTATTCTAATTCACATAAAGACTCCATGTGGGCTAGCAGGCATGTGAAATGTCTGCCAGTGCATCAACAGCTATATAACTAAGAAGTTATCTTTTTCACTGTCTTCTGGTACTCTTCATTTCACTTGGGTTTTTTAGCAATTCAGGAAGCTGGAATGTTTGAATGGGTTTTAGCTTGATACCTTCTTCTTTTTCCCATTTGGCAGATAATACCACTAGTCTGACGGATAAACACCTGGACCCAATCAGGGAAAATCTGGGAAAGCACTGGAAAAACTATGCCCGTAAACTGGGCTTCACACAGTCTCAGATTGATGAAATTGACCATGACTATGAGCGAGATGGACTGAAAGAAAAGGTTTACCAGATGCTCCAAAAGTGGGTGATGAGGGAAGGCATAAAGGGAGCCACGGTGGGGAAGCTGGCCCAGGCGCTCCACCAGTGTTCCAGGATCGACCTTCTGAGCAGCTTGATTTACGTCAGCCAGAACTAACCCTGGATGGGCTACGGCAGCTGAAGTGGACGCCTCACTTAGTGGATAACCCCAGAAAGTTGGCTGCCTCAGAGCATTCAGAATTCTGTCCTCACTGATAGGGGTTCTGTGTCTGCAGAAATTTTGTTTCCTGTACTTCATAGCTGGAGAATGGGGAAAGAAATCTGCAGCAAAGGGGTCTCACTCTGTTGCCAGGCTGGTCTCAAACTTCTGGACTCAAGTGATCCTCCCGCCTCGGCCTTCCAAAGTGCTGGGATATCAGGCACTGAGCCACTGCGCCCAGCCAACAATCCGCTCTGAGGAAAGCGTAAGCAGGAAGACCTCTTAATGGCATAGCACCAATAAAAAAATGACTCCTAGTTGTGTTTGGAAAGGGAGAGAAGAGATGTCTGAGGAAGGTCATGTTCTTTCAGCTTATGGCATTTCCTAGAGTTTTGTTGAAGCAAGAAGAAAAACTCAGAGAATATAAAATCAACTTTTAAAATTGTGTGCTCTCTTCTTCACGTAGGCTCCTGTTAAAAACAAAGTGCAGTCAGATTCTAAGCCCTGTTCAGAGACTTCGTGGATCACAGCTGCAGCTCACCGCCACATCACAGGATCCGTTAACGTTAATACCCAATACTCTGTCAGCCACTGTAGGCTCTAAGAACCACGTGCAGTCTTCAGCCCATTAAATTATCGATTATTTTTTAATGAATTGAATTTATATTGAGTCTTCAAATTAACTGAATGGATTTAAAGGGGTACCAAGGAGGGGGGAAACATCAGAATTTCCCAGGCAGTTGTTGCAAGGAATTGGTACTAACCGTGACTACAACAAAAATTCTTGATTGACTTTTAAAGTTATTTCCTGGCATTCTGGTACCTTCACCCAGCCTGAGTGCCCTGGAGAGGGAACAGGAAATGCTGATCTCTACCCCTGGGTGAGACCAGAACCTCAGGGCTGATACTGTTGAGTGGCTTCCTCGGTTTACTCTGTGTACTGTGAAAGTATTTTCATATTTTTTCTGTGTGCCAGAGTGAAAAAGGACAGCTTCTGAGTGTGGTAATTGTGCCTCTAGCACCCAGCCTTTCAAAGCCCACCTGAAACCTGGGGGTGGATGAAAGAACTAGAATAGAAGACTGAAGCTGGGTAGGCCGCTCAGTGTCCACTGGCATTTTGCTAAACCGACAAGGAAGGCTGTGTGCTTAGCTCTCCCCAGAGGGAGGGCGAGAAGGGTGTGGTGATGGTCAATCTGGCTGTCGGAACAGATTCTGGTGTCTTGGGCTGATAACAGTGTTGTTGATTCTGATTGTGAATCCCCTCAACTCTAGCAGACACATACACACCCCTGAAATGGGGCTGCAGAGCAGGCTGTCTCAGCCTTGCCACTGTCGGCATCTCGGCCTGGGTAATTCTGTTGTGGGGACTGTCCTGTTCCTTGTAGGATGTTTAGTAGCATCCCTGCCCCCACCTACTAGATGCCAGGGGCACTGTTCTCCCCAGCCCCCCGCCCCAGTTGTGACAATAGTCTCTAAACATTGTCAAATGGTCCAAGGAAAGGGGAAAATTGCCCCGGTTGAGAAGAGCACTGCTGTAAAGTAATGAGCCTCGGCTCTCCTGTCTGCACCTGTCCGGTTACTACTTGGCCACCACGCAGCCTTGGCTCCTACAGCCCAAAAGGGAGAATGGAGGGAGGCTCCAGGCTTTGCTGGAGGGGCCTGGGTGAGTTCTGTTTGCTCCTTGTACCACCATCCAAATGGTGTTATCAAATCTCTTAGATTCCAAAGAGGTTGAATAATTAATGTTCAAAGGCAAGAGGGCAAGGCATTTTTTAACACTTTTTAAAATAA
Task1_train_9953
This alteration occurs within gene RIPK1 (receptor interacting serine/threonine kinase 1) located on Chromosome 6. Is it associated with a disease or is it a benign variant?
Pathogenic; IL10-related early-onset inflammatory bowel disease
TTATTTATTTTTAATATGGAGATAATCACAGTATTTAATTTATGGATTTGTTGTGAAAATTAAATGAGTTGATATGTATAAAAAGCTTAGAACACTGCCTGGCACATAGTAAGTTCTATAAAAAGTGTTAAACTTTCATCATCATCATCATCAGTATTACTTCTCAGACCCAGAAGAAATAGCTGTGTCAGGCCCTCATCGAAGGAGATCCTGTAAAAGATAGAAGACTGTGCCCTCCACAGCACTTCTGTAATAAAATCAAGAGGGCTATCTCTTATAGGGTTCTATGGTGCAGCCCATAATGCTAATCCCAAAGTACAGTCTGGAAAAAGTCATGAGGCCAAAACGACTTGATTAAGAACTCAGCTTTCTAATTAACCATGGGATTGGCGCTTTTTTTTTTTTTTTCTGTAAAGGAACCAATAGTAAATGTTAGGCCCTGCTGGCTTTGAGGTCTCTTGGAACTACTCACCTCTCTTATTGTAGTGCAAAAGCAACCACAGACAATATGTACATGAATGAGCACGGCTGTGTTCCAATAAAAGTGGATTTACAAATGCTGGCAGGAGTCAGATTTGGCCCACAGGCCATAGTTGGCCAACCCCTGGTCTAACCCATTTGAAGGACAGCTTTTAAAATACCTAGAACAGAACTTGCGAATGGTCAGGGGCACCTGTGAGAATCTAATGAAACCCAGGATCTACCCCCTACAGAAATATTGACAAAATTTGGAAAATATCTTGGGAAGTTCTTGGACTGCTGACAATCTATAAGATATGGATAGAGAGAGAGCCACATCACAGAGGGCTGAGGAAAGAAGAGAGGTGGGAAGGAAGAATGAAATGTTTTCTTCCTTATATTCTGTTTAATGAGGTAGTGTGGGGATTAAGGAATTTTTTTTGTTGTGGTTGTTGTACATTTTCATTTGTTTCCTTTTATTATTTTTATGAAGGGCGAAGGGAAGGAACCAGTAGAAGGAGAGAGGTTATGGCTATTGGAGAAGAGGCAATGTCGGTCGGCAGTGGGGTGGAGTAAAGGAGGGGTTAGGGTCCAAAAACAGACCTTGAAGAGTATAGTTACCTCGTCGCTTGAAAGACAAGGAAGGCTTTGTAACTGAATGGGTTCACGCCTGCTGGACAATTCCTTGATTAAGTAAGAGGAAAGTGAACTGTTGGGCCGGGGTGGTGGTCAGGAGTTGAGCGGCTTTAACTCTGGCCAGATGTAAGCGGAGAATGTCTAAAAGGAACAAAAATGGTGGTTTTCCCTTTACACCCAGGAAGGTCTAATACCAACAGGATCACTGGCTAAGATTGACTAGAACACCCAACCTCGTAGCCACACAGGGGTTTTGTTCACAGAGCCATCAGCTGTGGCTCAGGGATGTGTCTACTAGGAGGAAGGAATGCCTTATTCTTTTTTGTTTTGTTTTTGAGACAACATCCTGCTCTGTGGCCCAGGCTGAAGTACAGGGGCACAGTCATGGCTCACTGCAGCCTCGAACTCCTGAGTTCAAGTGATCCTCCTGTCTCAGCCTCCTCAGTAACTGGGACTACAGGCATGTGCCACCATACCCAGCTAATTAAAAAAAATTTTTTTTTTGGTAGAGACAGGTTCTTGCTGTGTTGCCCAGGACTGGTCTAGAACTCCCGGGTTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGTTGGGATTATAGGCATGAGCCACCACGCCAGGCCGGGAATGCCCTATTCTAATTCACATAAAGACTCCATGTGGGCTAGCAGGCATGTGAAATGTCTGCCAGTGCATCAACAGCTATATAACTAAGAAGTTATCTTTTTCACTGTCTTCTGGTACTCTTCATTTCACTTGGGTTTTTTAGCAATTCAGGAAGCTGGAATGTTTGAATGGGTTTTAGCTTGATACCTTCTTCTTTTTCCCATTTGGCAGATAATACCACTAGTCTGACGGATAAACACCTGGACCCAATCAGGGAAAATCTGGGAAAGCACTGGAAAAACTGTGCCCGTAAACTGGGCTTCACACAGTCTCAGATTGATGAAATTGACCATGACTATGAGCGAGATGGACTGAAAGAAAAGGTTTACCAGATGCTCCAAAAGTGGGTGATGAGGGAAGGCATAAAGGGAGCCACGGTGGGGAAGCTGGCCCAGGCGCTCCACCAGTGTTCCAGGATCGACCTTCTGAGCAGCTTGATTTACGTCAGCCAGAACTAACCCTGGATGGGCTACGGCAGCTGAAGTGGACGCCTCACTTAGTGGATAACCCCAGAAAGTTGGCTGCCTCAGAGCATTCAGAATTCTGTCCTCACTGATAGGGGTTCTGTGTCTGCAGAAATTTTGTTTCCTGTACTTCATAGCTGGAGAATGGGGAAAGAAATCTGCAGCAAAGGGGTCTCACTCTGTTGCCAGGCTGGTCTCAAACTTCTGGACTCAAGTGATCCTCCCGCCTCGGCCTTCCAAAGTGCTGGGATATCAGGCACTGAGCCACTGCGCCCAGCCAACAATCCGCTCTGAGGAAAGCGTAAGCAGGAAGACCTCTTAATGGCATAGCACCAATAAAAAAATGACTCCTAGTTGTGTTTGGAAAGGGAGAGAAGAGATGTCTGAGGAAGGTCATGTTCTTTCAGCTTATGGCATTTCCTAGAGTTTTGTTGAAGCAAGAAGAAAAACTCAGAGAATATAAAATCAACTTTTAAAATTGTGTGCTCTCTTCTTCACGTAGGCTCCTGTTAAAAACAAAGTGCAGTCAGATTCTAAGCCCTGTTCAGAGACTTCGTGGATCACAGCTGCAGCTCACCGCCACATCACAGGATCCGTTAACGTTAATACCCAATACTCTGTCAGCCACTGTAGGCTCTAAGAACCACGTGCAGTCTTCAGCCCATTAAATTATCGATTATTTTTTAATGAATTGAATTTATATTGAGTCTTCAAATTAACTGAATGGATTTAAAGGGGTACCAAGGAGGGGGGAAACATCAGAATTTCCCAGGCAGTTGTTGCAAGGAATTGGTACTAACCGTGACTACAACAAAAATTCTTGATTGACTTTTAAAGTTATTTCCTGGCATTCTGGTACCTTCACCCAGCCTGAGTGCCCTGGAGAGGGAACAGGAAATGCTGATCTCTACCCCTGGGTGAGACCAGAACCTCAGGGCTGATACTGTTGAGTGGCTTCCTCGGTTTACTCTGTGTACTGTGAAAGTATTTTCATATTTTTTCTGTGTGCCAGAGTGAAAAAGGACAGCTTCTGAGTGTGGTAATTGTGCCTCTAGCACCCAGCCTTTCAAAGCCCACCTGAAACCTGGGGGTGGATGAAAGAACTAGAATAGAAGACTGAAGCTGGGTAGGCCGCTCAGTGTCCACTGGCATTTTGCTAAACCGACAAGGAAGGCTGTGTGCTTAGCTCTCCCCAGAGGGAGGGCGAGAAGGGTGTGGTGATGGTCAATCTGGCTGTCGGAACAGATTCTGGTGTCTTGGGCTGATAACAGTGTTGTTGATTCTGATTGTGAATCCCCTCAACTCTAGCAGACACATACACACCCCTGAAATGGGGCTGCAGAGCAGGCTGTCTCAGCCTTGCCACTGTCGGCATCTCGGCCTGGGTAATTCTGTTGTGGGGACTGTCCTGTTCCTTGTAGGATGTTTAGTAGCATCCCTGCCCCCACCTACTAGATGCCAGGGGCACTGTTCTCCCCAGCCCCCCGCCCCAGTTGTGACAATAGTCTCTAAACATTGTCAAATGGTCCAAGGAAAGGGGAAAATTGCCCCGGTTGAGAAGAGCACTGCTGTAAAGTAATGAGCCTCGGCTCTCCTGTCTGCACCTGTCCGGTTACTACTTGGCCACCACGCAGCCTTGGCTCCTACAGCCCAAAAGGGAGAATGGAGGGAGGCTCCAGGCTTTGCTGGAGGGGCCTGGGTGAGTTCTGTTTGCTCCTTGTACCACCATCCAAATGGTGTTATCAAATCTCTTAGATTCCAAAGAGGTTGAATAATTAATGTTCAAAGGCAAGAGGGCAAGGCATTTTTTAACACTTTTTAAAATAAAAATTTATACCACAACTTTAGGCTATTGATGTGATGTGTCAC
TTATTTATTTTTAATATGGAGATAATCACAGTATTTAATTTATGGATTTGTTGTGAAAATTAAATGAGTTGATATGTATAAAAAGCTTAGAACACTGCCTGGCACATAGTAAGTTCTATAAAAAGTGTTAAACTTTCATCATCATCATCATCAGTATTACTTCTCAGACCCAGAAGAAATAGCTGTGTCAGGCCCTCATCGAAGGAGATCCTGTAAAAGATAGAAGACTGTGCCCTCCACAGCACTTCTGTAATAAAATCAAGAGGGCTATCTCTTATAGGGTTCTATGGTGCAGCCCATAATGCTAATCCCAAAGTACAGTCTGGAAAAAGTCATGAGGCCAAAACGACTTGATTAAGAACTCAGCTTTCTAATTAACCATGGGATTGGCGCTTTTTTTTTTTTTTTCTGTAAAGGAACCAATAGTAAATGTTAGGCCCTGCTGGCTTTGAGGTCTCTTGGAACTACTCACCTCTCTTATTGTAGTGCAAAAGCAACCACAGACAATATGTACATGAATGAGCACGGCTGTGTTCCAATAAAAGTGGATTTACAAATGCTGGCAGGAGTCAGATTTGGCCCACAGGCCATAGTTGGCCAACCCCTGGTCTAACCCATTTGAAGGACAGCTTTTAAAATACCTAGAACAGAACTTGCGAATGGTCAGGGGCACCTGTGAGAATCTAATGAAACCCAGGATCTACCCCCTACAGAAATATTGACAAAATTTGGAAAATATCTTGGGAAGTTCTTGGACTGCTGACAATCTATAAGATATGGATAGAGAGAGAGCCACATCACAGAGGGCTGAGGAAAGAAGAGAGGTGGGAAGGAAGAATGAAATGTTTTCTTCCTTATATTCTGTTTAATGAGGTAGTGTGGGGATTAAGGAATTTTTTTTGTTGTGGTTGTTGTACATTTTCATTTGTTTCCTTTTATTATTTTTATGAAGGGCGAAGGGAAGGAACCAGTAGAAGGAGAGAGGTTATGGCTATTGGAGAAGAGGCAATGTCGGTCGGCAGTGGGGTGGAGTAAAGGAGGGGTTAGGGTCCAAAAACAGACCTTGAAGAGTATAGTTACCTCGTCGCTTGAAAGACAAGGAAGGCTTTGTAACTGAATGGGTTCACGCCTGCTGGACAATTCCTTGATTAAGTAAGAGGAAAGTGAACTGTTGGGCCGGGGTGGTGGTCAGGAGTTGAGCGGCTTTAACTCTGGCCAGATGTAAGCGGAGAATGTCTAAAAGGAACAAAAATGGTGGTTTTCCCTTTACACCCAGGAAGGTCTAATACCAACAGGATCACTGGCTAAGATTGACTAGAACACCCAACCTCGTAGCCACACAGGGGTTTTGTTCACAGAGCCATCAGCTGTGGCTCAGGGATGTGTCTACTAGGAGGAAGGAATGCCTTATTCTTTTTTGTTTTGTTTTTGAGACAACATCCTGCTCTGTGGCCCAGGCTGAAGTACAGGGGCACAGTCATGGCTCACTGCAGCCTCGAACTCCTGAGTTCAAGTGATCCTCCTGTCTCAGCCTCCTCAGTAACTGGGACTACAGGCATGTGCCACCATACCCAGCTAATTAAAAAAAATTTTTTTTTTGGTAGAGACAGGTTCTTGCTGTGTTGCCCAGGACTGGTCTAGAACTCCCGGGTTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGTTGGGATTATAGGCATGAGCCACCACGCCAGGCCGGGAATGCCCTATTCTAATTCACATAAAGACTCCATGTGGGCTAGCAGGCATGTGAAATGTCTGCCAGTGCATCAACAGCTATATAACTAAGAAGTTATCTTTTTCACTGTCTTCTGGTACTCTTCATTTCACTTGGGTTTTTTAGCAATTCAGGAAGCTGGAATGTTTGAATGGGTTTTAGCTTGATACCTTCTTCTTTTTCCCATTTGGCAGATAATACCACTAGTCTGACGGATAAACACCTGGACCCAATCAGGGAAAATCTGGGAAAGCACTGGAAAAACTGTGCCCGTAAACTGGGCTTCACACAGTCTCAGATTGATGAAACTGACCATGACTATGAGCGAGATGGACTGAAAGAAAAGGTTTACCAGATGCTCCAAAAGTGGGTGATGAGGGAAGGCATAAAGGGAGCCACGGTGGGGAAGCTGGCCCAGGCGCTCCACCAGTGTTCCAGGATCGACCTTCTGAGCAGCTTGATTTACGTCAGCCAGAACTAACCCTGGATGGGCTACGGCAGCTGAAGTGGACGCCTCACTTAGTGGATAACCCCAGAAAGTTGGCTGCCTCAGAGCATTCAGAATTCTGTCCTCACTGATAGGGGTTCTGTGTCTGCAGAAATTTTGTTTCCTGTACTTCATAGCTGGAGAATGGGGAAAGAAATCTGCAGCAAAGGGGTCTCACTCTGTTGCCAGGCTGGTCTCAAACTTCTGGACTCAAGTGATCCTCCCGCCTCGGCCTTCCAAAGTGCTGGGATATCAGGCACTGAGCCACTGCGCCCAGCCAACAATCCGCTCTGAGGAAAGCGTAAGCAGGAAGACCTCTTAATGGCATAGCACCAATAAAAAAATGACTCCTAGTTGTGTTTGGAAAGGGAGAGAAGAGATGTCTGAGGAAGGTCATGTTCTTTCAGCTTATGGCATTTCCTAGAGTTTTGTTGAAGCAAGAAGAAAAACTCAGAGAATATAAAATCAACTTTTAAAATTGTGTGCTCTCTTCTTCACGTAGGCTCCTGTTAAAAACAAAGTGCAGTCAGATTCTAAGCCCTGTTCAGAGACTTCGTGGATCACAGCTGCAGCTCACCGCCACATCACAGGATCCGTTAACGTTAATACCCAATACTCTGTCAGCCACTGTAGGCTCTAAGAACCACGTGCAGTCTTCAGCCCATTAAATTATCGATTATTTTTTAATGAATTGAATTTATATTGAGTCTTCAAATTAACTGAATGGATTTAAAGGGGTACCAAGGAGGGGGGAAACATCAGAATTTCCCAGGCAGTTGTTGCAAGGAATTGGTACTAACCGTGACTACAACAAAAATTCTTGATTGACTTTTAAAGTTATTTCCTGGCATTCTGGTACCTTCACCCAGCCTGAGTGCCCTGGAGAGGGAACAGGAAATGCTGATCTCTACCCCTGGGTGAGACCAGAACCTCAGGGCTGATACTGTTGAGTGGCTTCCTCGGTTTACTCTGTGTACTGTGAAAGTATTTTCATATTTTTTCTGTGTGCCAGAGTGAAAAAGGACAGCTTCTGAGTGTGGTAATTGTGCCTCTAGCACCCAGCCTTTCAAAGCCCACCTGAAACCTGGGGGTGGATGAAAGAACTAGAATAGAAGACTGAAGCTGGGTAGGCCGCTCAGTGTCCACTGGCATTTTGCTAAACCGACAAGGAAGGCTGTGTGCTTAGCTCTCCCCAGAGGGAGGGCGAGAAGGGTGTGGTGATGGTCAATCTGGCTGTCGGAACAGATTCTGGTGTCTTGGGCTGATAACAGTGTTGTTGATTCTGATTGTGAATCCCCTCAACTCTAGCAGACACATACACACCCCTGAAATGGGGCTGCAGAGCAGGCTGTCTCAGCCTTGCCACTGTCGGCATCTCGGCCTGGGTAATTCTGTTGTGGGGACTGTCCTGTTCCTTGTAGGATGTTTAGTAGCATCCCTGCCCCCACCTACTAGATGCCAGGGGCACTGTTCTCCCCAGCCCCCCGCCCCAGTTGTGACAATAGTCTCTAAACATTGTCAAATGGTCCAAGGAAAGGGGAAAATTGCCCCGGTTGAGAAGAGCACTGCTGTAAAGTAATGAGCCTCGGCTCTCCTGTCTGCACCTGTCCGGTTACTACTTGGCCACCACGCAGCCTTGGCTCCTACAGCCCAAAAGGGAGAATGGAGGGAGGCTCCAGGCTTTGCTGGAGGGGCCTGGGTGAGTTCTGTTTGCTCCTTGTACCACCATCCAAATGGTGTTATCAAATCTCTTAGATTCCAAAGAGGTTGAATAATTAATGTTCAAAGGCAAGAGGGCAAGGCATTTTTTAACACTTTTTAAAATAAAAATTTATACCACAACTTTAGGCTATTGATGTGATGTGTCAC
Task1_train_9954
Here is a genetic alteration in RIPK1 (receptor interacting serine/threonine kinase 1) on Chromosome 6. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Inborn error of immunity
TTATTTATTTTTAATATGGAGATAATCACAGTATTTAATTTATGGATTTGTTGTGAAAATTAAATGAGTTGATATGTATAAAAAGCTTAGAACACTGCCTGGCACATAGTAAGTTCTATAAAAAGTGTTAAACTTTCATCATCATCATCATCAGTATTACTTCTCAGACCCAGAAGAAATAGCTGTGTCAGGCCCTCATCGAAGGAGATCCTGTAAAAGATAGAAGACTGTGCCCTCCACAGCACTTCTGTAATAAAATCAAGAGGGCTATCTCTTATAGGGTTCTATGGTGCAGCCCATAATGCTAATCCCAAAGTACAGTCTGGAAAAAGTCATGAGGCCAAAACGACTTGATTAAGAACTCAGCTTTCTAATTAACCATGGGATTGGCGCTTTTTTTTTTTTTTTCTGTAAAGGAACCAATAGTAAATGTTAGGCCCTGCTGGCTTTGAGGTCTCTTGGAACTACTCACCTCTCTTATTGTAGTGCAAAAGCAACCACAGACAATATGTACATGAATGAGCACGGCTGTGTTCCAATAAAAGTGGATTTACAAATGCTGGCAGGAGTCAGATTTGGCCCACAGGCCATAGTTGGCCAACCCCTGGTCTAACCCATTTGAAGGACAGCTTTTAAAATACCTAGAACAGAACTTGCGAATGGTCAGGGGCACCTGTGAGAATCTAATGAAACCCAGGATCTACCCCCTACAGAAATATTGACAAAATTTGGAAAATATCTTGGGAAGTTCTTGGACTGCTGACAATCTATAAGATATGGATAGAGAGAGAGCCACATCACAGAGGGCTGAGGAAAGAAGAGAGGTGGGAAGGAAGAATGAAATGTTTTCTTCCTTATATTCTGTTTAATGAGGTAGTGTGGGGATTAAGGAATTTTTTTTGTTGTGGTTGTTGTACATTTTCATTTGTTTCCTTTTATTATTTTTATGAAGGGCGAAGGGAAGGAACCAGTAGAAGGAGAGAGGTTATGGCTATTGGAGAAGAGGCAATGTCGGTCGGCAGTGGGGTGGAGTAAAGGAGGGGTTAGGGTCCAAAAACAGACCTTGAAGAGTATAGTTACCTCGTCGCTTGAAAGACAAGGAAGGCTTTGTAACTGAATGGGTTCACGCCTGCTGGACAATTCCTTGATTAAGTAAGAGGAAAGTGAACTGTTGGGCCGGGGTGGTGGTCAGGAGTTGAGCGGCTTTAACTCTGGCCAGATGTAAGCGGAGAATGTCTAAAAGGAACAAAAATGGTGGTTTTCCCTTTACACCCAGGAAGGTCTAATACCAACAGGATCACTGGCTAAGATTGACTAGAACACCCAACCTCGTAGCCACACAGGGGTTTTGTTCACAGAGCCATCAGCTGTGGCTCAGGGATGTGTCTACTAGGAGGAAGGAATGCCTTATTCTTTTTTGTTTTGTTTTTGAGACAACATCCTGCTCTGTGGCCCAGGCTGAAGTACAGGGGCACAGTCATGGCTCACTGCAGCCTCGAACTCCTGAGTTCAAGTGATCCTCCTGTCTCAGCCTCCTCAGTAACTGGGACTACAGGCATGTGCCACCATACCCAGCTAATTAAAAAAAATTTTTTTTTTGGTAGAGACAGGTTCTTGCTGTGTTGCCCAGGACTGGTCTAGAACTCCCGGGTTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGTTGGGATTATAGGCATGAGCCACCACGCCAGGCCGGGAATGCCCTATTCTAATTCACATAAAGACTCCATGTGGGCTAGCAGGCATGTGAAATGTCTGCCAGTGCATCAACAGCTATATAACTAAGAAGTTATCTTTTTCACTGTCTTCTGGTACTCTTCATTTCACTTGGGTTTTTTAGCAATTCAGGAAGCTGGAATGTTTGAATGGGTTTTAGCTTGATACCTTCTTCTTTTTCCCATTTGGCAGATAATACCACTAGTCTGACGGATAAACACCTGGACCCAATCAGGGAAAATCTGGGAAAGCACTGGAAAAACTGTGCCCGTAAACTGGGCTTCACACAGTCTCAGATTGATGAAATTGACCATGACTATGAGCGAGATGGACTGAAAGAAAAGGTTTACCAGATGCTCCAAAAGTGGGTGATGAGGGAAGGCATAAAGGGAGCCACGGTGGGGAAGCTGGCCCAGGCGCTCCACCAGTGTTCCAGGATCGACCTTCTGAGCAGCTTGATTTACGTCAGCCAGAACTAACCCTGGATGGGCTACGGCAGCTGAAGTGGACGCCTCACTTAGTGGATAACCCCAGAAAGTTGGCTGCCTCAGAGCATTCAGAATTCTGTCCTCACTGATAGGGGTTCTGTGTCTGCAGAAATTTTGTTTCCTGTACTTCATAGCTGGAGAATGGGGAAAGAAATCTGCAGCAAAGGGGTCTCACTCTGTTGCCAGGCTGGTCTCAAACTTCTGGACTCAAGTGATCCTCCCGCCTCGGCCTTCCAAAGTGCTGGGATATCAGGCACTGAGCCACTGCGCCCAGCCAACAATCCGCTCTGAGGAAAGCGTAAGCAGGAAGACCTCTTAATGGCATAGCACCAATAAAAAAATGACTCCTAGTTGTGTTTGGAAAGGGAGAGAAGAGATGTCTGAGGAAGGTCATGTTCTTTCAGCTTATGGCATTTCCTAGAGTTTTGTTGAAGCAAGAAGAAAAACTCAGAGAATATAAAATCAACTTTTAAAATTGTGTGCTCTCTTCTTCACGTAGGCTCCTGTTAAAAACAAAGTGCAGTCAGATTCTAAGCCCTGTTCAGAGACTTCGTGGATCACAGCTGCAGCTCACCGCCACATCACAGGATCCGTTAACGTTAATACCCAATACTCTGTCAGCCACTGTAGGCTCTAAGAACCACGTGCAGTCTTCAGCCCATTAAATTATCGATTATTTTTTAATGAATTGAATTTATATTGAGTCTTCAAATTAACTGAATGGATTTAAAGGGGTACCAAGGAGGGGGGAAACATCAGAATTTCCCAGGCAGTTGTTGCAAGGAATTGGTACTAACCGTGACTACAACAAAAATTCTTGATTGACTTTTAAAGTTATTTCCTGGCATTCTGGTACCTTCACCCAGCCTGAGTGCCCTGGAGAGGGAACAGGAAATGCTGATCTCTACCCCTGGGTGAGACCAGAACCTCAGGGCTGATACTGTTGAGTGGCTTCCTCGGTTTACTCTGTGTACTGTGAAAGTATTTTCATATTTTTTCTGTGTGCCAGAGTGAAAAAGGACAGCTTCTGAGTGTGGTAATTGTGCCTCTAGCACCCAGCCTTTCAAAGCCCACCTGAAACCTGGGGGTGGATGAAAGAACTAGAATAGAAGACTGAAGCTGGGTAGGCCGCTCAGTGTCCACTGGCATTTTGCTAAACCGACAAGGAAGGCTGTGTGCTTAGCTCTCCCCAGAGGGAGGGCGAGAAGGGTGTGGTGATGGTCAATCTGGCTGTCGGAACAGATTCTGGTGTCTTGGGCTGATAACAGTGTTGTTGATTCTGATTGTGAATCCCCTCAACTCTAGCAGACACATACACACCCCTGAAATGGGGCTGCAGAGCAGGCTGTCTCAGCCTTGCCACTGTCGGCATCTCGGCCTGGGTAATTCTGTTGTGGGGACTGTCCTGTTCCTTGTAGGATGTTTAGTAGCATCCCTGCCCCCACCTACTAGATGCCAGGGGCACTGTTCTCCCCAGCCCCCCGCCCCAGTTGTGACAATAGTCTCTAAACATTGTCAAATGGTCCAAGGAAAGGGGAAAATTGCCCCGGTTGAGAAGAGCACTGCTGTAAAGTAATGAGCCTCGGCTCTCCTGTCTGCACCTGTCCGGTTACTACTTGGCCACCACGCAGCCTTGGCTCCTACAGCCCAAAAGGGAGAATGGAGGGAGGCTCCAGGCTTTGCTGGAGGGGCCTGGGTGAGTTCTGTTTGCTCCTTGTACCACCATCCAAATGGTGTTATCAAATCTCTTAGATTCCAAAGAGGTTGAATAATTAATGTTCAAAGGCAAGAGGGCAAGGCATTTTTTAACACTTTTTAAAATAAAAATTTATACCACAACTTTAGGCTATTGATGTGATGTGTCAC
TTATTTATTTTTAATATGGAGATAATCACAGTATTTAATTTATGGATTTGTTGTGAAAATTAAATGAGTTGATATGTATAAAAAGCTTAGAACACTGCCTGGCACATAGTAAGTTCTATAAAAAGTGTTAAACTTTCATCATCATCATCATCAGTATTACTTCTCAGACCCAGAAGAAATAGCTGTGTCAGGCCCTCATCGAAGGAGATCCTGTAAAAGATAGAAGACTGTGCCCTCCACAGCACTTCTGTAATAAAATCAAGAGGGCTATCTCTTATAGGGTTCTATGGTGCAGCCCATAATGCTAATCCCAAAGTACAGTCTGGAAAAAGTCATGAGGCCAAAACGACTTGATTAAGAACTCAGCTTTCTAATTAACCATGGGATTGGCGCTTTTTTTTTTTTTTTCTGTAAAGGAACCAATAGTAAATGTTAGGCCCTGCTGGCTTTGAGGTCTCTTGGAACTACTCACCTCTCTTATTGTAGTGCAAAAGCAACCACAGACAATATGTACATGAATGAGCACGGCTGTGTTCCAATAAAAGTGGATTTACAAATGCTGGCAGGAGTCAGATTTGGCCCACAGGCCATAGTTGGCCAACCCCTGGTCTAACCCATTTGAAGGACAGCTTTTAAAATACCTAGAACAGAACTTGCGAATGGTCAGGGGCACCTGTGAGAATCTAATGAAACCCAGGATCTACCCCCTACAGAAATATTGACAAAATTTGGAAAATATCTTGGGAAGTTCTTGGACTGCTGACAATCTATAAGATATGGATAGAGAGAGAGCCACATCACAGAGGGCTGAGGAAAGAAGAGAGGTGGGAAGGAAGAATGAAATGTTTTCTTCCTTATATTCTGTTTAATGAGGTAGTGTGGGGATTAAGGAATTTTTTTTGTTGTGGTTGTTGTACATTTTCATTTGTTTCCTTTTATTATTTTTATGAAGGGCGAAGGGAAGGAACCAGTAGAAGGAGAGAGGTTATGGCTATTGGAGAAGAGGCAATGTCGGTCGGCAGTGGGGTGGAGTAAAGGAGGGGTTAGGGTCCAAAAACAGACCTTGAAGAGTATAGTTACCTCGTCGCTTGAAAGACAAGGAAGGCTTTGTAACTGAATGGGTTCACGCCTGCTGGACAATTCCTTGATTAAGTAAGAGGAAAGTGAACTGTTGGGCCGGGGTGGTGGTCAGGAGTTGAGCGGCTTTAACTCTGGCCAGATGTAAGCGGAGAATGTCTAAAAGGAACAAAAATGGTGGTTTTCCCTTTACACCCAGGAAGGTCTAATACCAACAGGATCACTGGCTAAGATTGACTAGAACACCCAACCTCGTAGCCACACAGGGGTTTTGTTCACAGAGCCATCAGCTGTGGCTCAGGGATGTGTCTACTAGGAGGAAGGAATGCCTTATTCTTTTTTGTTTTGTTTTTGAGACAACATCCTGCTCTGTGGCCCAGGCTGAAGTACAGGGGCACAGTCATGGCTCACTGCAGCCTCGAACTCCTGAGTTCAAGTGATCCTCCTGTCTCAGCCTCCTCAGTAACTGGGACTACAGGCATGTGCCACCATACCCAGCTAATTAAAAAAAATTTTTTTTTTGGTAGAGACAGGTTCTTGCTGTGTTGCCCAGGACTGGTCTAGAACTCCCGGGTTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGTTGGGATTATAGGCATGAGCCACCACGCCAGGCCGGGAATGCCCTATTCTAATTCACATAAAGACTCCATGTGGGCTAGCAGGCATGTGAAATGTCTGCCAGTGCATCAACAGCTATATAACTAAGAAGTTATCTTTTTCACTGTCTTCTGGTACTCTTCATTTCACTTGGGTTTTTTAGCAATTCAGGAAGCTGGAATGTTTGAATGGGTTTTAGCTTGATACCTTCTTCTTTTTCCCATTTGGCAGATAATACCACTAGTCTGACGGATAAACACCTGGACCCAATCAGGGAAAATCTGGGAAAGCACTGGAAAAACTGTGCCCGTAAACTGGGCTTCACACAGTCTCAGATTGATGAAACTGACCATGACTATGAGCGAGATGGACTGAAAGAAAAGGTTTACCAGATGCTCCAAAAGTGGGTGATGAGGGAAGGCATAAAGGGAGCCACGGTGGGGAAGCTGGCCCAGGCGCTCCACCAGTGTTCCAGGATCGACCTTCTGAGCAGCTTGATTTACGTCAGCCAGAACTAACCCTGGATGGGCTACGGCAGCTGAAGTGGACGCCTCACTTAGTGGATAACCCCAGAAAGTTGGCTGCCTCAGAGCATTCAGAATTCTGTCCTCACTGATAGGGGTTCTGTGTCTGCAGAAATTTTGTTTCCTGTACTTCATAGCTGGAGAATGGGGAAAGAAATCTGCAGCAAAGGGGTCTCACTCTGTTGCCAGGCTGGTCTCAAACTTCTGGACTCAAGTGATCCTCCCGCCTCGGCCTTCCAAAGTGCTGGGATATCAGGCACTGAGCCACTGCGCCCAGCCAACAATCCGCTCTGAGGAAAGCGTAAGCAGGAAGACCTCTTAATGGCATAGCACCAATAAAAAAATGACTCCTAGTTGTGTTTGGAAAGGGAGAGAAGAGATGTCTGAGGAAGGTCATGTTCTTTCAGCTTATGGCATTTCCTAGAGTTTTGTTGAAGCAAGAAGAAAAACTCAGAGAATATAAAATCAACTTTTAAAATTGTGTGCTCTCTTCTTCACGTAGGCTCCTGTTAAAAACAAAGTGCAGTCAGATTCTAAGCCCTGTTCAGAGACTTCGTGGATCACAGCTGCAGCTCACCGCCACATCACAGGATCCGTTAACGTTAATACCCAATACTCTGTCAGCCACTGTAGGCTCTAAGAACCACGTGCAGTCTTCAGCCCATTAAATTATCGATTATTTTTTAATGAATTGAATTTATATTGAGTCTTCAAATTAACTGAATGGATTTAAAGGGGTACCAAGGAGGGGGGAAACATCAGAATTTCCCAGGCAGTTGTTGCAAGGAATTGGTACTAACCGTGACTACAACAAAAATTCTTGATTGACTTTTAAAGTTATTTCCTGGCATTCTGGTACCTTCACCCAGCCTGAGTGCCCTGGAGAGGGAACAGGAAATGCTGATCTCTACCCCTGGGTGAGACCAGAACCTCAGGGCTGATACTGTTGAGTGGCTTCCTCGGTTTACTCTGTGTACTGTGAAAGTATTTTCATATTTTTTCTGTGTGCCAGAGTGAAAAAGGACAGCTTCTGAGTGTGGTAATTGTGCCTCTAGCACCCAGCCTTTCAAAGCCCACCTGAAACCTGGGGGTGGATGAAAGAACTAGAATAGAAGACTGAAGCTGGGTAGGCCGCTCAGTGTCCACTGGCATTTTGCTAAACCGACAAGGAAGGCTGTGTGCTTAGCTCTCCCCAGAGGGAGGGCGAGAAGGGTGTGGTGATGGTCAATCTGGCTGTCGGAACAGATTCTGGTGTCTTGGGCTGATAACAGTGTTGTTGATTCTGATTGTGAATCCCCTCAACTCTAGCAGACACATACACACCCCTGAAATGGGGCTGCAGAGCAGGCTGTCTCAGCCTTGCCACTGTCGGCATCTCGGCCTGGGTAATTCTGTTGTGGGGACTGTCCTGTTCCTTGTAGGATGTTTAGTAGCATCCCTGCCCCCACCTACTAGATGCCAGGGGCACTGTTCTCCCCAGCCCCCCGCCCCAGTTGTGACAATAGTCTCTAAACATTGTCAAATGGTCCAAGGAAAGGGGAAAATTGCCCCGGTTGAGAAGAGCACTGCTGTAAAGTAATGAGCCTCGGCTCTCCTGTCTGCACCTGTCCGGTTACTACTTGGCCACCACGCAGCCTTGGCTCCTACAGCCCAAAAGGGAGAATGGAGGGAGGCTCCAGGCTTTGCTGGAGGGGCCTGGGTGAGTTCTGTTTGCTCCTTGTACCACCATCCAAATGGTGTTATCAAATCTCTTAGATTCCAAAGAGGTTGAATAATTAATGTTCAAAGGCAAGAGGGCAAGGCATTTTTTAACACTTTTTAAAATAAAAATTTATACCACAACTTTAGGCTATTGATGTGATGTGTCAC
Task1_train_9955
This sequence change occurs on Chromosome 6, altering TUBB2A (tubulin beta 2A class IIa). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; not provided
TTCTGAACATTTCTTATTTTTATCTTCTTACCAACCTTCTCTCTTAAAATCAGCTTCATTAAAATGGATTTTTCTAGAGTAACCACCAGATCACCTCCCCCACTCTCAGTCCGTTTTCCAGTCAAACCATTTGTTACTTGATTCAGTTCCAAATATAATGTGTGTCTGCTACTGTTAAGTCATTGCCTTATAGTCAACCTCAAGGGTAGTCATAAACTCCAAGAGTTTCACGTGTCTGACTATATTCTTAGGAGATTGATGGGTTACATTTTTCTCCTCGATAGTGGTCATGGGGGAAATGTGTTAATTTTTCACTTTAGATGTTTGTGAAATGTTGGGGAGAGTGAGGGGTTTGTTCTTAAGTGGTGGGCCATTGACCCAAAGTATTTTTAATTCCTTTTTTAGGCTGCATTTGATGCCAGAAGGCAAACACAACCTGCATTTGCGTTTTGCAGATGAATTCAACAAGTTAGCAGAAGACTTCCTACAATGAGAATGCACACTCCAGTCTTGGTGGTTCCTTCGTGTGGGGCTTGATCGTGTTGCTGCCTGTTAACATGATGCCTTTGAAACTCTCCGCCTTTGAAACTTTCTACCCCTCCCTTCAATCTTATCCTAACCAAATGAGAATAATGACATATTGAAAACAGCCTCTAGCTTCAGGCTGGGCACGGTGGCTCACAGCTATAATCTCAGCACTTTGGGAGGCTGAGGTGGGAGAATTGCCTGAGCCCAGGAGTTCAAGACCAGCTTGTGCAATATAGGGAGACTCCGGCTCTACAAAAAAGAGTTTTTCAAAATTAGCCAGGCGAAGTGGCACACATCTGTGGTCCCAGGTGCTCAGGAAGCTGAGGTGGGAGGATCACTTGAGCCCAATTCAAAGCTGCAGTGAGCTGTAATTGCATCACTGCACTCCAACCTGGGCAACAGAGTAAGACCTTGTCTTAAAAAAAAATAAAAACATAAAAAAAAATAAAAAAGGAATAAAGCCTCTAACTTCAATAGCTATGAAAATTAAATCCGATTTTCTAAGATGAAGTTGTGACAAGTTATACCATTGTCTTAACAGGTGAATTCCTGCCATAATTTATTTTCAAATAAATTTTAGGTGGAGAATGTGTAGTGTTAATGTTGGAGATTTTAAGACATCTTGAATTTGTACTGTACCTTTTATCTGAGAGGTTCAAGCTTCACTTGTGTTTTTATTTGTGTTTATCTATCATATTCAAAGAGAAGTAGGGAGAGTCCGTGCCCGAGGTCCTCAATTCTAAGATCAGAGGATGTCCAGAACAGCAGCAGATAGGGGCAGGTTTGCTTTACCCCATATCCCTCTCCTGGTTCACTTTTGAGAGATGAATACTTTGGGCCAGTAAAGGTGAACAAAATATGTATTTTCATCACTCTGTACTAAAAGGACAGGAATGTTATTAATTAAAACACTAAAGCAGAAATCCTACATTGCTATTAAAATTAAACTTTGATTACCACAATAAAAACAGTAGCAAGTTAAACCTTGACACTTTATACTTAAGCATTTAGAGAAAGAATAAAAATTATTTGAAGTGAGAACACAGACCACAAGGTTTTCTACACATGCTTTTTTATTAGTATAGATACCTTCACAGACAATACTGTAATTTTTAGAGGAGTTCCACATCATTACATCAACAGTGTGAATTTCTAACAGAGGCAAAACTGAGCACCATAGTTTACAAGTAGAAAGACCATGCTTGAGGACAACAGAAGTTCACTAAGGATGCACGATTGATCTGAGAAGTTTTTAAGCCTCGTCCTCGCCCTCCTCCTCCTCGAACTCCCCTTGTTCGTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCGGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAGGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTGGCCGACATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGTTCTGCACGTTGAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAAGATGGCAGCCACCGTCAGGTAGCGGCCGTGGCGCGGGTCGCAGGCGGCCATCATGTTCTTGGAGTCGAACATCTGCTGGGTGAGCTCGGGCACCGTGAGCGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGCGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGGAAGGGCACCATGTTCACCGCCAGCTTGCGCAGGTCTGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTCAGGGTGCGGAAGCAGATGTCATACAGGGCCTCGTTATCAATGGAGTAGGTTTCATCTGTGTTTTCCACCAGCTGGTGGACAGAGAGGGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACCTTGGGTGAGGGCATGACGCTGAAGGTGTTCATGATGCGGTCTGGGTACTCTTCCCGGATCTTGCTGATGAGCAGGGTGCCCATCCCGGACCCCGTGCCGCCCCCCAGAGAGTGGGTCAGCTGGAAGCCCTGGAGACAGTCACAGCTCTCTGACTCCTTCCTCACCACATCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTGGCCCTTGGCCCAGTTATTCCCGGCTCCACTCTGGCCTGCCAGAGGGAAAGTGAACATTAGACACTAAAACATAAGGAATTTCAAAATCTGTCATTTTGACTATGGAGGAGAAGGTAGGACTGGTCTTAGACTGGCAGATTCTTCTCTTTTGAATACTCTTCTTTTACCTGAAGAAATATTTTTCTATGTCAGTGACCTCAAAAACACTGGGGATCATAATAAAGTAAGAAGTAAGTTTAGCTCATCTGAGGCTATTGATTGAGGAAGAGGATAGGGTTAGAAAACTTAATTGGTTCTGAAATACATACATTTTTAAGAGGCATTCTCTTTATACTCAACTACAATTAAACAGGCAAGGTGAAGGCAGTGTGACCAGCAGAGAAGGTGGCCTCAGCATCTGTCTAGCTCTGGTCATAACCTGTGCTTTTGGCCCCTGGCTCTTTGAAGTCCTTTCAAGTTGCCTATAGCCTATGAAGCCTGGCTTGAAGCTTTTCCTTGCTCTTTCTTCCTTCCAGTCTGAGGCTGCTCTGCAATGGGAGGGCTGCAGCAGCCCTCTGCAGGCTGGCGTTGATCTGTGAGCCATGACCACCCATGGACTGCATGGAGCTAGGCCAGGACTCAGGGCTGCCGTGGACACAGTGTCACCTTGGCACTGAACACTAAGAACTGTGCTTTGCAGGGCTGTTAGGAAGAAGGTGTGTCATTTGGCCAGTTCCCAGTGATCATGACTACATACCGAACACGAAGTTGTCTGGTCTGAAGATCTGGCCGAAGGGTCCAGACCTGACAGAGTCCATGGTGCCAGGCTCCAGATCCACCAGGATGGCCCGAGGTACATATTTGTTACCTGCAGGAAATAAGAACTGACTCAGGCCTGTGCTTGGGGAGGGACTCACAGCAGCATTCAATTCCAGCATCTGAGACAAAAGGAGAACAGGAGATTTTCTGCTTTTAAGAAAAAGGAGGTCCTGAGTGTGCTTAGCCGTGGCAAACAGGCAGGAATCTTAGGAAACCATAAAACATGTTTTTCCAGCAGTTGGCATTTGAAATGAATATGCAAGAAGCATGCCTTTGTCACGTGCATGTTCCTGGGACGTTTCATCTCCCACATCATGGAAAGCAAGGATTCCTGGGCACACACATCCCGCTACTCACCAGCAGCCTCATTGTAGTACACGTTGATTCTCTCCAGCTGCAAGTCACTGTCTCCATGGTAACTGCCTGTGGGGTCGATCCCATGCTCATCGCTGATGACCTCCCAAAACTGAAATGAAAAAAGAACCACACCAT
TTCTGAACATTTCTTATTTTTATCTTCTTACCAACCTTCTCTCTTAAAATCAGCTTCATTAAAATGGATTTTTCTAGAGTAACCACCAGATCACCTCCCCCACTCTCAGTCCGTTTTCCAGTCAAACCATTTGTTACTTGATTCAGTTCCAAATATAATGTGTGTCTGCTACTGTTAAGTCATTGCCTTATAGTCAACCTCAAGGGTAGTCATAAACTCCAAGAGTTTCACGTGTCTGACTATATTCTTAGGAGATTGATGGGTTACATTTTTCTCCTCGATAGTGGTCATGGGGGAAATGTGTTAATTTTTCACTTTAGATGTTTGTGAAATGTTGGGGAGAGTGAGGGGTTTGTTCTTAAGTGGTGGGCCATTGACCCAAAGTATTTTTAATTCCTTTTTTAGGCTGCATTTGATGCCAGAAGGCAAACACAACCTGCATTTGCGTTTTGCAGATGAATTCAACAAGTTAGCAGAAGACTTCCTACAATGAGAATGCACACTCCAGTCTTGGTGGTTCCTTCGTGTGGGGCTTGATCGTGTTGCTGCCTGTTAACATGATGCCTTTGAAACTCTCCGCCTTTGAAACTTTCTACCCCTCCCTTCAATCTTATCCTAACCAAATGAGAATAATGACATATTGAAAACAGCCTCTAGCTTCAGGCTGGGCACGGTGGCTCACAGCTATAATCTCAGCACTTTGGGAGGCTGAGGTGGGAGAATTGCCTGAGCCCAGGAGTTCAAGACCAGCTTGTGCAATATAGGGAGACTCCGGCTCTACAAAAAAGAGTTTTTCAAAATTAGCCAGGCGAAGTGGCACACATCTGTGGTCCCAGGTGCTCAGGAAGCTGAGGTGGGAGGATCACTTGAGCCCAATTCAAAGCTGCAGTGAGCTGTAATTGCATCACTGCACTCCAACCTGGGCAACAGAGTAAGACCTTGTCTTAAAAAAAAATAAAAACATAAAAAAAAATAAAAAAGGAATAAAGCCTCTAACTTCAATAGCTATGAAAATTAAATCCGATTTTCTAAGATGAAGTTGTGACAAGTTATACCATTGTCTTAACAGGTGAATTCCTGCCATAATTTATTTTCAAATAAATTTTAGGTGGAGAATGTGTAGTGTTAATGTTGGAGATTTTAAGACATCTTGAATTTGTACTGTACCTTTTATCTGAGAGGTTCAAGCTTCACTTGTGTTTTTATTTGTGTTTATCTATCATATTCAAAGAGAAGTAGGGAGAGTCCGTGCCCGAGGTCCTCAATTCTAAGATCAGAGGATGTCCAGAACAGCAGCAGATAGGGGCAGGTTTGCTTTACCCCATATCCCTCTCCTGGTTCACTTTTGAGAGATGAATACTTTGGGCCAGTAAAGGTGAACAAAATATGTATTTTCATCACTCTGTACTAAAAGGACAGGAATGTTATTAATTAAAACACTAAAGCAGAAATCCTACATTGCTATTAAAATTAAACTTTGATTACCACAATAAAAACAGTAGCAAGTTAAACCTTGACACTTTATACTTAAGCATTTAGAGAAAGAATAAAAATTATTTGAAGTGAGAACACAGACCACAAGGTTTTCTACACATGCTTTTTTATTAGTATAGATACCTTCACAGACAATACTGTAATTTTTAGAGGAGTTCCACATCATTACATCAACAGTGTGAATTTCTAACAGAGGCAAAACTGAGCACCATAGTTTACAAGTAGAAAGACCATGCTTGAGGACAACAGAAGTTCACTAAGGATGCACGATTGATCTGAGAAGTTTTTAAGCCTCGTCCTCGCCCTCCTCCTCCTCGAACTCCCCTTGTTCGTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCGGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAGGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTGGCCGACATCTTCAGGCCGCGGGGCAGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGTTCTGCACGTTGAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAAGATGGCAGCCACCGTCAGGTAGCGGCCGTGGCGCGGGTCGCAGGCGGCCATCATGTTCTTGGAGTCGAACATCTGCTGGGTGAGCTCGGGCACCGTGAGCGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGCGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGGAAGGGCACCATGTTCACCGCCAGCTTGCGCAGGTCTGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTCAGGGTGCGGAAGCAGATGTCATACAGGGCCTCGTTATCAATGGAGTAGGTTTCATCTGTGTTTTCCACCAGCTGGTGGACAGAGAGGGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACCTTGGGTGAGGGCATGACGCTGAAGGTGTTCATGATGCGGTCTGGGTACTCTTCCCGGATCTTGCTGATGAGCAGGGTGCCCATCCCGGACCCCGTGCCGCCCCCCAGAGAGTGGGTCAGCTGGAAGCCCTGGAGACAGTCACAGCTCTCTGACTCCTTCCTCACCACATCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTGGCCCTTGGCCCAGTTATTCCCGGCTCCACTCTGGCCTGCCAGAGGGAAAGTGAACATTAGACACTAAAACATAAGGAATTTCAAAATCTGTCATTTTGACTATGGAGGAGAAGGTAGGACTGGTCTTAGACTGGCAGATTCTTCTCTTTTGAATACTCTTCTTTTACCTGAAGAAATATTTTTCTATGTCAGTGACCTCAAAAACACTGGGGATCATAATAAAGTAAGAAGTAAGTTTAGCTCATCTGAGGCTATTGATTGAGGAAGAGGATAGGGTTAGAAAACTTAATTGGTTCTGAAATACATACATTTTTAAGAGGCATTCTCTTTATACTCAACTACAATTAAACAGGCAAGGTGAAGGCAGTGTGACCAGCAGAGAAGGTGGCCTCAGCATCTGTCTAGCTCTGGTCATAACCTGTGCTTTTGGCCCCTGGCTCTTTGAAGTCCTTTCAAGTTGCCTATAGCCTATGAAGCCTGGCTTGAAGCTTTTCCTTGCTCTTTCTTCCTTCCAGTCTGAGGCTGCTCTGCAATGGGAGGGCTGCAGCAGCCCTCTGCAGGCTGGCGTTGATCTGTGAGCCATGACCACCCATGGACTGCATGGAGCTAGGCCAGGACTCAGGGCTGCCGTGGACACAGTGTCACCTTGGCACTGAACACTAAGAACTGTGCTTTGCAGGGCTGTTAGGAAGAAGGTGTGTCATTTGGCCAGTTCCCAGTGATCATGACTACATACCGAACACGAAGTTGTCTGGTCTGAAGATCTGGCCGAAGGGTCCAGACCTGACAGAGTCCATGGTGCCAGGCTCCAGATCCACCAGGATGGCCCGAGGTACATATTTGTTACCTGCAGGAAATAAGAACTGACTCAGGCCTGTGCTTGGGGAGGGACTCACAGCAGCATTCAATTCCAGCATCTGAGACAAAAGGAGAACAGGAGATTTTCTGCTTTTAAGAAAAAGGAGGTCCTGAGTGTGCTTAGCCGTGGCAAACAGGCAGGAATCTTAGGAAACCATAAAACATGTTTTTCCAGCAGTTGGCATTTGAAATGAATATGCAAGAAGCATGCCTTTGTCACGTGCATGTTCCTGGGACGTTTCATCTCCCACATCATGGAAAGCAAGGATTCCTGGGCACACACATCCCGCTACTCACCAGCAGCCTCATTGTAGTACACGTTGATTCTCTCCAGCTGCAAGTCACTGTCTCCATGGTAACTGCCTGTGGGGTCGATCCCATGCTCATCGCTGATGACCTCCCAAAACTGAAATGAAAAAAGAACCACACCAT
Task1_train_9956
This alteration occurs within gene TUBB2A (tubulin beta 2A class IIa) located on Chromosome 6. Is it associated with a disease or is it a benign variant?
Pathogenic; not provided
TTTATCTTCTTACCAACCTTCTCTCTTAAAATCAGCTTCATTAAAATGGATTTTTCTAGAGTAACCACCAGATCACCTCCCCCACTCTCAGTCCGTTTTCCAGTCAAACCATTTGTTACTTGATTCAGTTCCAAATATAATGTGTGTCTGCTACTGTTAAGTCATTGCCTTATAGTCAACCTCAAGGGTAGTCATAAACTCCAAGAGTTTCACGTGTCTGACTATATTCTTAGGAGATTGATGGGTTACATTTTTCTCCTCGATAGTGGTCATGGGGGAAATGTGTTAATTTTTCACTTTAGATGTTTGTGAAATGTTGGGGAGAGTGAGGGGTTTGTTCTTAAGTGGTGGGCCATTGACCCAAAGTATTTTTAATTCCTTTTTTAGGCTGCATTTGATGCCAGAAGGCAAACACAACCTGCATTTGCGTTTTGCAGATGAATTCAACAAGTTAGCAGAAGACTTCCTACAATGAGAATGCACACTCCAGTCTTGGTGGTTCCTTCGTGTGGGGCTTGATCGTGTTGCTGCCTGTTAACATGATGCCTTTGAAACTCTCCGCCTTTGAAACTTTCTACCCCTCCCTTCAATCTTATCCTAACCAAATGAGAATAATGACATATTGAAAACAGCCTCTAGCTTCAGGCTGGGCACGGTGGCTCACAGCTATAATCTCAGCACTTTGGGAGGCTGAGGTGGGAGAATTGCCTGAGCCCAGGAGTTCAAGACCAGCTTGTGCAATATAGGGAGACTCCGGCTCTACAAAAAAGAGTTTTTCAAAATTAGCCAGGCGAAGTGGCACACATCTGTGGTCCCAGGTGCTCAGGAAGCTGAGGTGGGAGGATCACTTGAGCCCAATTCAAAGCTGCAGTGAGCTGTAATTGCATCACTGCACTCCAACCTGGGCAACAGAGTAAGACCTTGTCTTAAAAAAAAATAAAAACATAAAAAAAAATAAAAAAGGAATAAAGCCTCTAACTTCAATAGCTATGAAAATTAAATCCGATTTTCTAAGATGAAGTTGTGACAAGTTATACCATTGTCTTAACAGGTGAATTCCTGCCATAATTTATTTTCAAATAAATTTTAGGTGGAGAATGTGTAGTGTTAATGTTGGAGATTTTAAGACATCTTGAATTTGTACTGTACCTTTTATCTGAGAGGTTCAAGCTTCACTTGTGTTTTTATTTGTGTTTATCTATCATATTCAAAGAGAAGTAGGGAGAGTCCGTGCCCGAGGTCCTCAATTCTAAGATCAGAGGATGTCCAGAACAGCAGCAGATAGGGGCAGGTTTGCTTTACCCCATATCCCTCTCCTGGTTCACTTTTGAGAGATGAATACTTTGGGCCAGTAAAGGTGAACAAAATATGTATTTTCATCACTCTGTACTAAAAGGACAGGAATGTTATTAATTAAAACACTAAAGCAGAAATCCTACATTGCTATTAAAATTAAACTTTGATTACCACAATAAAAACAGTAGCAAGTTAAACCTTGACACTTTATACTTAAGCATTTAGAGAAAGAATAAAAATTATTTGAAGTGAGAACACAGACCACAAGGTTTTCTACACATGCTTTTTTATTAGTATAGATACCTTCACAGACAATACTGTAATTTTTAGAGGAGTTCCACATCATTACATCAACAGTGTGAATTTCTAACAGAGGCAAAACTGAGCACCATAGTTTACAAGTAGAAAGACCATGCTTGAGGACAACAGAAGTTCACTAAGGATGCACGATTGATCTGAGAAGTTTTTAAGCCTCGTCCTCGCCCTCCTCCTCCTCGAACTCCCCTTGTTCGTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCGGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAGGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTGGCCGACATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGTTCTGCACGTTGAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAAGATGGCAGCCACCGTCAGGTAGCGGCCGTGGCGCGGGTCGCAGGCGGCCATCATGTTCTTGGAGTCGAACATCTGCTGGGTGAGCTCGGGCACCGTGAGCGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGCGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGGAAGGGCACCATGTTCACCGCCAGCTTGCGCAGGTCTGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTCAGGGTGCGGAAGCAGATGTCATACAGGGCCTCGTTATCAATGGAGTAGGTTTCATCTGTGTTTTCCACCAGCTGGTGGACAGAGAGGGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACCTTGGGTGAGGGCATGACGCTGAAGGTGTTCATGATGCGGTCTGGGTACTCTTCCCGGATCTTGCTGATGAGCAGGGTGCCCATCCCGGACCCCGTGCCGCCCCCCAGAGAGTGGGTCAGCTGGAAGCCCTGGAGACAGTCACAGCTCTCTGACTCCTTCCTCACCACATCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTGGCCCTTGGCCCAGTTATTCCCGGCTCCACTCTGGCCTGCCAGAGGGAAAGTGAACATTAGACACTAAAACATAAGGAATTTCAAAATCTGTCATTTTGACTATGGAGGAGAAGGTAGGACTGGTCTTAGACTGGCAGATTCTTCTCTTTTGAATACTCTTCTTTTACCTGAAGAAATATTTTTCTATGTCAGTGACCTCAAAAACACTGGGGATCATAATAAAGTAAGAAGTAAGTTTAGCTCATCTGAGGCTATTGATTGAGGAAGAGGATAGGGTTAGAAAACTTAATTGGTTCTGAAATACATACATTTTTAAGAGGCATTCTCTTTATACTCAACTACAATTAAACAGGCAAGGTGAAGGCAGTGTGACCAGCAGAGAAGGTGGCCTCAGCATCTGTCTAGCTCTGGTCATAACCTGTGCTTTTGGCCCCTGGCTCTTTGAAGTCCTTTCAAGTTGCCTATAGCCTATGAAGCCTGGCTTGAAGCTTTTCCTTGCTCTTTCTTCCTTCCAGTCTGAGGCTGCTCTGCAATGGGAGGGCTGCAGCAGCCCTCTGCAGGCTGGCGTTGATCTGTGAGCCATGACCACCCATGGACTGCATGGAGCTAGGCCAGGACTCAGGGCTGCCGTGGACACAGTGTCACCTTGGCACTGAACACTAAGAACTGTGCTTTGCAGGGCTGTTAGGAAGAAGGTGTGTCATTTGGCCAGTTCCCAGTGATCATGACTACATACCGAACACGAAGTTGTCTGGTCTGAAGATCTGGCCGAAGGGTCCAGACCTGACAGAGTCCATGGTGCCAGGCTCCAGATCCACCAGGATGGCCCGAGGTACATATTTGTTACCTGCAGGAAATAAGAACTGACTCAGGCCTGTGCTTGGGGAGGGACTCACAGCAGCATTCAATTCCAGCATCTGAGACAAAAGGAGAACAGGAGATTTTCTGCTTTTAAGAAAAAGGAGGTCCTGAGTGTGCTTAGCCGTGGCAAACAGGCAGGAATCTTAGGAAACCATAAAACATGTTTTTCCAGCAGTTGGCATTTGAAATGAATATGCAAGAAGCATGCCTTTGTCACGTGCATGTTCCTGGGACGTTTCATCTCCCACATCATGGAAAGCAAGGATTCCTGGGCACACACATCCCGCTACTCACCAGCAGCCTCATTGTAGTACACGTTGATTCTCTCCAGCTGCAAGTCACTGTCTCCATGGTAACTGCCTGTGGGGTCGATCCCATGCTCATCGCTGATGACCTCCCAAAACTGAAATGAAAAAAGAACCACACCATGGCTCTGCATCCTGAATG
TTTATCTTCTTACCAACCTTCTCTCTTAAAATCAGCTTCATTAAAATGGATTTTTCTAGAGTAACCACCAGATCACCTCCCCCACTCTCAGTCCGTTTTCCAGTCAAACCATTTGTTACTTGATTCAGTTCCAAATATAATGTGTGTCTGCTACTGTTAAGTCATTGCCTTATAGTCAACCTCAAGGGTAGTCATAAACTCCAAGAGTTTCACGTGTCTGACTATATTCTTAGGAGATTGATGGGTTACATTTTTCTCCTCGATAGTGGTCATGGGGGAAATGTGTTAATTTTTCACTTTAGATGTTTGTGAAATGTTGGGGAGAGTGAGGGGTTTGTTCTTAAGTGGTGGGCCATTGACCCAAAGTATTTTTAATTCCTTTTTTAGGCTGCATTTGATGCCAGAAGGCAAACACAACCTGCATTTGCGTTTTGCAGATGAATTCAACAAGTTAGCAGAAGACTTCCTACAATGAGAATGCACACTCCAGTCTTGGTGGTTCCTTCGTGTGGGGCTTGATCGTGTTGCTGCCTGTTAACATGATGCCTTTGAAACTCTCCGCCTTTGAAACTTTCTACCCCTCCCTTCAATCTTATCCTAACCAAATGAGAATAATGACATATTGAAAACAGCCTCTAGCTTCAGGCTGGGCACGGTGGCTCACAGCTATAATCTCAGCACTTTGGGAGGCTGAGGTGGGAGAATTGCCTGAGCCCAGGAGTTCAAGACCAGCTTGTGCAATATAGGGAGACTCCGGCTCTACAAAAAAGAGTTTTTCAAAATTAGCCAGGCGAAGTGGCACACATCTGTGGTCCCAGGTGCTCAGGAAGCTGAGGTGGGAGGATCACTTGAGCCCAATTCAAAGCTGCAGTGAGCTGTAATTGCATCACTGCACTCCAACCTGGGCAACAGAGTAAGACCTTGTCTTAAAAAAAAATAAAAACATAAAAAAAAATAAAAAAGGAATAAAGCCTCTAACTTCAATAGCTATGAAAATTAAATCCGATTTTCTAAGATGAAGTTGTGACAAGTTATACCATTGTCTTAACAGGTGAATTCCTGCCATAATTTATTTTCAAATAAATTTTAGGTGGAGAATGTGTAGTGTTAATGTTGGAGATTTTAAGACATCTTGAATTTGTACTGTACCTTTTATCTGAGAGGTTCAAGCTTCACTTGTGTTTTTATTTGTGTTTATCTATCATATTCAAAGAGAAGTAGGGAGAGTCCGTGCCCGAGGTCCTCAATTCTAAGATCAGAGGATGTCCAGAACAGCAGCAGATAGGGGCAGGTTTGCTTTACCCCATATCCCTCTCCTGGTTCACTTTTGAGAGATGAATACTTTGGGCCAGTAAAGGTGAACAAAATATGTATTTTCATCACTCTGTACTAAAAGGACAGGAATGTTATTAATTAAAACACTAAAGCAGAAATCCTACATTGCTATTAAAATTAAACTTTGATTACCACAATAAAAACAGTAGCAAGTTAAACCTTGACACTTTATACTTAAGCATTTAGAGAAAGAATAAAAATTATTTGAAGTGAGAACACAGACCACAAGGTTTTCTACACATGCTTTTTTATTAGTATAGATACCTTCACAGACAATACTGTAATTTTTAGAGGAGTTCCACATCATTACATCAACAGTGTGAATTTCTAACAGAGGCAAAACTGAGCACCATAGTTTACAAGTAGAAAGACCATGCTTGAGGACAACAGAAGTTCACTAAGGATGCACGATTGATCTGAGAAGTTTTTAAGCCTCGTCCTCGCCCTCCTCCTCCTCGAACTCCCCTTGTTCGTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCGGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAGGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTGGCCGACATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCATCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGTTCTGCACGTTGAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAAGATGGCAGCCACCGTCAGGTAGCGGCCGTGGCGCGGGTCGCAGGCGGCCATCATGTTCTTGGAGTCGAACATCTGCTGGGTGAGCTCGGGCACCGTGAGCGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGCGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGGAAGGGCACCATGTTCACCGCCAGCTTGCGCAGGTCTGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTCAGGGTGCGGAAGCAGATGTCATACAGGGCCTCGTTATCAATGGAGTAGGTTTCATCTGTGTTTTCCACCAGCTGGTGGACAGAGAGGGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACCTTGGGTGAGGGCATGACGCTGAAGGTGTTCATGATGCGGTCTGGGTACTCTTCCCGGATCTTGCTGATGAGCAGGGTGCCCATCCCGGACCCCGTGCCGCCCCCCAGAGAGTGGGTCAGCTGGAAGCCCTGGAGACAGTCACAGCTCTCTGACTCCTTCCTCACCACATCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTGGCCCTTGGCCCAGTTATTCCCGGCTCCACTCTGGCCTGCCAGAGGGAAAGTGAACATTAGACACTAAAACATAAGGAATTTCAAAATCTGTCATTTTGACTATGGAGGAGAAGGTAGGACTGGTCTTAGACTGGCAGATTCTTCTCTTTTGAATACTCTTCTTTTACCTGAAGAAATATTTTTCTATGTCAGTGACCTCAAAAACACTGGGGATCATAATAAAGTAAGAAGTAAGTTTAGCTCATCTGAGGCTATTGATTGAGGAAGAGGATAGGGTTAGAAAACTTAATTGGTTCTGAAATACATACATTTTTAAGAGGCATTCTCTTTATACTCAACTACAATTAAACAGGCAAGGTGAAGGCAGTGTGACCAGCAGAGAAGGTGGCCTCAGCATCTGTCTAGCTCTGGTCATAACCTGTGCTTTTGGCCCCTGGCTCTTTGAAGTCCTTTCAAGTTGCCTATAGCCTATGAAGCCTGGCTTGAAGCTTTTCCTTGCTCTTTCTTCCTTCCAGTCTGAGGCTGCTCTGCAATGGGAGGGCTGCAGCAGCCCTCTGCAGGCTGGCGTTGATCTGTGAGCCATGACCACCCATGGACTGCATGGAGCTAGGCCAGGACTCAGGGCTGCCGTGGACACAGTGTCACCTTGGCACTGAACACTAAGAACTGTGCTTTGCAGGGCTGTTAGGAAGAAGGTGTGTCATTTGGCCAGTTCCCAGTGATCATGACTACATACCGAACACGAAGTTGTCTGGTCTGAAGATCTGGCCGAAGGGTCCAGACCTGACAGAGTCCATGGTGCCAGGCTCCAGATCCACCAGGATGGCCCGAGGTACATATTTGTTACCTGCAGGAAATAAGAACTGACTCAGGCCTGTGCTTGGGGAGGGACTCACAGCAGCATTCAATTCCAGCATCTGAGACAAAAGGAGAACAGGAGATTTTCTGCTTTTAAGAAAAAGGAGGTCCTGAGTGTGCTTAGCCGTGGCAAACAGGCAGGAATCTTAGGAAACCATAAAACATGTTTTTCCAGCAGTTGGCATTTGAAATGAATATGCAAGAAGCATGCCTTTGTCACGTGCATGTTCCTGGGACGTTTCATCTCCCACATCATGGAAAGCAAGGATTCCTGGGCACACACATCCCGCTACTCACCAGCAGCCTCATTGTAGTACACGTTGATTCTCTCCAGCTGCAAGTCACTGTCTCCATGGTAACTGCCTGTGGGGTCGATCCCATGCTCATCGCTGATGACCTCCCAAAACTGAAATGAAAAAAGAACCACACCATGGCTCTGCATCCTGAATG
Task1_train_9957
The gene TUBB2A (tubulin beta 2A class IIa) on Chromosome 6 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; not provided
TTTGTTACTTGATTCAGTTCCAAATATAATGTGTGTCTGCTACTGTTAAGTCATTGCCTTATAGTCAACCTCAAGGGTAGTCATAAACTCCAAGAGTTTCACGTGTCTGACTATATTCTTAGGAGATTGATGGGTTACATTTTTCTCCTCGATAGTGGTCATGGGGGAAATGTGTTAATTTTTCACTTTAGATGTTTGTGAAATGTTGGGGAGAGTGAGGGGTTTGTTCTTAAGTGGTGGGCCATTGACCCAAAGTATTTTTAATTCCTTTTTTAGGCTGCATTTGATGCCAGAAGGCAAACACAACCTGCATTTGCGTTTTGCAGATGAATTCAACAAGTTAGCAGAAGACTTCCTACAATGAGAATGCACACTCCAGTCTTGGTGGTTCCTTCGTGTGGGGCTTGATCGTGTTGCTGCCTGTTAACATGATGCCTTTGAAACTCTCCGCCTTTGAAACTTTCTACCCCTCCCTTCAATCTTATCCTAACCAAATGAGAATAATGACATATTGAAAACAGCCTCTAGCTTCAGGCTGGGCACGGTGGCTCACAGCTATAATCTCAGCACTTTGGGAGGCTGAGGTGGGAGAATTGCCTGAGCCCAGGAGTTCAAGACCAGCTTGTGCAATATAGGGAGACTCCGGCTCTACAAAAAAGAGTTTTTCAAAATTAGCCAGGCGAAGTGGCACACATCTGTGGTCCCAGGTGCTCAGGAAGCTGAGGTGGGAGGATCACTTGAGCCCAATTCAAAGCTGCAGTGAGCTGTAATTGCATCACTGCACTCCAACCTGGGCAACAGAGTAAGACCTTGTCTTAAAAAAAAATAAAAACATAAAAAAAAATAAAAAAGGAATAAAGCCTCTAACTTCAATAGCTATGAAAATTAAATCCGATTTTCTAAGATGAAGTTGTGACAAGTTATACCATTGTCTTAACAGGTGAATTCCTGCCATAATTTATTTTCAAATAAATTTTAGGTGGAGAATGTGTAGTGTTAATGTTGGAGATTTTAAGACATCTTGAATTTGTACTGTACCTTTTATCTGAGAGGTTCAAGCTTCACTTGTGTTTTTATTTGTGTTTATCTATCATATTCAAAGAGAAGTAGGGAGAGTCCGTGCCCGAGGTCCTCAATTCTAAGATCAGAGGATGTCCAGAACAGCAGCAGATAGGGGCAGGTTTGCTTTACCCCATATCCCTCTCCTGGTTCACTTTTGAGAGATGAATACTTTGGGCCAGTAAAGGTGAACAAAATATGTATTTTCATCACTCTGTACTAAAAGGACAGGAATGTTATTAATTAAAACACTAAAGCAGAAATCCTACATTGCTATTAAAATTAAACTTTGATTACCACAATAAAAACAGTAGCAAGTTAAACCTTGACACTTTATACTTAAGCATTTAGAGAAAGAATAAAAATTATTTGAAGTGAGAACACAGACCACAAGGTTTTCTACACATGCTTTTTTATTAGTATAGATACCTTCACAGACAATACTGTAATTTTTAGAGGAGTTCCACATCATTACATCAACAGTGTGAATTTCTAACAGAGGCAAAACTGAGCACCATAGTTTACAAGTAGAAAGACCATGCTTGAGGACAACAGAAGTTCACTAAGGATGCACGATTGATCTGAGAAGTTTTTAAGCCTCGTCCTCGCCCTCCTCCTCCTCGAACTCCCCTTGTTCGTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCGGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAGGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTGGCCGACATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGTTCTGCACGTTGAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAAGATGGCAGCCACCGTCAGGTAGCGGCCGTGGCGCGGGTCGCAGGCGGCCATCATGTTCTTGGAGTCGAACATCTGCTGGGTGAGCTCGGGCACCGTGAGCGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGCGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGGAAGGGCACCATGTTCACCGCCAGCTTGCGCAGGTCTGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTCAGGGTGCGGAAGCAGATGTCATACAGGGCCTCGTTATCAATGGAGTAGGTTTCATCTGTGTTTTCCACCAGCTGGTGGACAGAGAGGGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACCTTGGGTGAGGGCATGACGCTGAAGGTGTTCATGATGCGGTCTGGGTACTCTTCCCGGATCTTGCTGATGAGCAGGGTGCCCATCCCGGACCCCGTGCCGCCCCCCAGAGAGTGGGTCAGCTGGAAGCCCTGGAGACAGTCACAGCTCTCTGACTCCTTCCTCACCACATCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTGGCCCTTGGCCCAGTTATTCCCGGCTCCACTCTGGCCTGCCAGAGGGAAAGTGAACATTAGACACTAAAACATAAGGAATTTCAAAATCTGTCATTTTGACTATGGAGGAGAAGGTAGGACTGGTCTTAGACTGGCAGATTCTTCTCTTTTGAATACTCTTCTTTTACCTGAAGAAATATTTTTCTATGTCAGTGACCTCAAAAACACTGGGGATCATAATAAAGTAAGAAGTAAGTTTAGCTCATCTGAGGCTATTGATTGAGGAAGAGGATAGGGTTAGAAAACTTAATTGGTTCTGAAATACATACATTTTTAAGAGGCATTCTCTTTATACTCAACTACAATTAAACAGGCAAGGTGAAGGCAGTGTGACCAGCAGAGAAGGTGGCCTCAGCATCTGTCTAGCTCTGGTCATAACCTGTGCTTTTGGCCCCTGGCTCTTTGAAGTCCTTTCAAGTTGCCTATAGCCTATGAAGCCTGGCTTGAAGCTTTTCCTTGCTCTTTCTTCCTTCCAGTCTGAGGCTGCTCTGCAATGGGAGGGCTGCAGCAGCCCTCTGCAGGCTGGCGTTGATCTGTGAGCCATGACCACCCATGGACTGCATGGAGCTAGGCCAGGACTCAGGGCTGCCGTGGACACAGTGTCACCTTGGCACTGAACACTAAGAACTGTGCTTTGCAGGGCTGTTAGGAAGAAGGTGTGTCATTTGGCCAGTTCCCAGTGATCATGACTACATACCGAACACGAAGTTGTCTGGTCTGAAGATCTGGCCGAAGGGTCCAGACCTGACAGAGTCCATGGTGCCAGGCTCCAGATCCACCAGGATGGCCCGAGGTACATATTTGTTACCTGCAGGAAATAAGAACTGACTCAGGCCTGTGCTTGGGGAGGGACTCACAGCAGCATTCAATTCCAGCATCTGAGACAAAAGGAGAACAGGAGATTTTCTGCTTTTAAGAAAAAGGAGGTCCTGAGTGTGCTTAGCCGTGGCAAACAGGCAGGAATCTTAGGAAACCATAAAACATGTTTTTCCAGCAGTTGGCATTTGAAATGAATATGCAAGAAGCATGCCTTTGTCACGTGCATGTTCCTGGGACGTTTCATCTCCCACATCATGGAAAGCAAGGATTCCTGGGCACACACATCCCGCTACTCACCAGCAGCCTCATTGTAGTACACGTTGATTCTCTCCAGCTGCAAGTCACTGTCTCCATGGTAACTGCCTGTGGGGTCGATCCCATGCTCATCGCTGATGACCTCCCAAAACTGAAATGAAAAAAGAACCACACCATGGCTCTGCATCCTGAATGTCACTAAGGATGGCCTTGTCCTCCTCCCATGTCCTTGGAACAGGGGCTTTTGTGGTCAGACAGTTAGTAAGTGCTAGACAGAGAGCAAAGAGCTGCACCCCCTATTTCCTG
TTTGTTACTTGATTCAGTTCCAAATATAATGTGTGTCTGCTACTGTTAAGTCATTGCCTTATAGTCAACCTCAAGGGTAGTCATAAACTCCAAGAGTTTCACGTGTCTGACTATATTCTTAGGAGATTGATGGGTTACATTTTTCTCCTCGATAGTGGTCATGGGGGAAATGTGTTAATTTTTCACTTTAGATGTTTGTGAAATGTTGGGGAGAGTGAGGGGTTTGTTCTTAAGTGGTGGGCCATTGACCCAAAGTATTTTTAATTCCTTTTTTAGGCTGCATTTGATGCCAGAAGGCAAACACAACCTGCATTTGCGTTTTGCAGATGAATTCAACAAGTTAGCAGAAGACTTCCTACAATGAGAATGCACACTCCAGTCTTGGTGGTTCCTTCGTGTGGGGCTTGATCGTGTTGCTGCCTGTTAACATGATGCCTTTGAAACTCTCCGCCTTTGAAACTTTCTACCCCTCCCTTCAATCTTATCCTAACCAAATGAGAATAATGACATATTGAAAACAGCCTCTAGCTTCAGGCTGGGCACGGTGGCTCACAGCTATAATCTCAGCACTTTGGGAGGCTGAGGTGGGAGAATTGCCTGAGCCCAGGAGTTCAAGACCAGCTTGTGCAATATAGGGAGACTCCGGCTCTACAAAAAAGAGTTTTTCAAAATTAGCCAGGCGAAGTGGCACACATCTGTGGTCCCAGGTGCTCAGGAAGCTGAGGTGGGAGGATCACTTGAGCCCAATTCAAAGCTGCAGTGAGCTGTAATTGCATCACTGCACTCCAACCTGGGCAACAGAGTAAGACCTTGTCTTAAAAAAAAATAAAAACATAAAAAAAAATAAAAAAGGAATAAAGCCTCTAACTTCAATAGCTATGAAAATTAAATCCGATTTTCTAAGATGAAGTTGTGACAAGTTATACCATTGTCTTAACAGGTGAATTCCTGCCATAATTTATTTTCAAATAAATTTTAGGTGGAGAATGTGTAGTGTTAATGTTGGAGATTTTAAGACATCTTGAATTTGTACTGTACCTTTTATCTGAGAGGTTCAAGCTTCACTTGTGTTTTTATTTGTGTTTATCTATCATATTCAAAGAGAAGTAGGGAGAGTCCGTGCCCGAGGTCCTCAATTCTAAGATCAGAGGATGTCCAGAACAGCAGCAGATAGGGGCAGGTTTGCTTTACCCCATATCCCTCTCCTGGTTCACTTTTGAGAGATGAATACTTTGGGCCAGTAAAGGTGAACAAAATATGTATTTTCATCACTCTGTACTAAAAGGACAGGAATGTTATTAATTAAAACACTAAAGCAGAAATCCTACATTGCTATTAAAATTAAACTTTGATTACCACAATAAAAACAGTAGCAAGTTAAACCTTGACACTTTATACTTAAGCATTTAGAGAAAGAATAAAAATTATTTGAAGTGAGAACACAGACCACAAGGTTTTCTACACATGCTTTTTTATTAGTATAGATACCTTCACAGACAATACTGTAATTTTTAGAGGAGTTCCACATCATTACATCAACAGTGTGAATTTCTAACAGAGGCAAAACTGAGCACCATAGTTTACAAGTAGAAAGACCATGCTTGAGGACAACAGAAGTTCACTAAGGATGCACGATTGATCTGAGAAGTTTTTAAGCCTCGTCCTCGCCCTCCTCCTCCTCGAACTCCCCTTGTTCGTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCGGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAGGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTGGCCGACATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGTTCTGCACGTTGAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAAGATGGCATCCACCGTCAGGTAGCGGCCGTGGCGCGGGTCGCAGGCGGCCATCATGTTCTTGGAGTCGAACATCTGCTGGGTGAGCTCGGGCACCGTGAGCGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGCGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGGAAGGGCACCATGTTCACCGCCAGCTTGCGCAGGTCTGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTCAGGGTGCGGAAGCAGATGTCATACAGGGCCTCGTTATCAATGGAGTAGGTTTCATCTGTGTTTTCCACCAGCTGGTGGACAGAGAGGGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACCTTGGGTGAGGGCATGACGCTGAAGGTGTTCATGATGCGGTCTGGGTACTCTTCCCGGATCTTGCTGATGAGCAGGGTGCCCATCCCGGACCCCGTGCCGCCCCCCAGAGAGTGGGTCAGCTGGAAGCCCTGGAGACAGTCACAGCTCTCTGACTCCTTCCTCACCACATCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTGGCCCTTGGCCCAGTTATTCCCGGCTCCACTCTGGCCTGCCAGAGGGAAAGTGAACATTAGACACTAAAACATAAGGAATTTCAAAATCTGTCATTTTGACTATGGAGGAGAAGGTAGGACTGGTCTTAGACTGGCAGATTCTTCTCTTTTGAATACTCTTCTTTTACCTGAAGAAATATTTTTCTATGTCAGTGACCTCAAAAACACTGGGGATCATAATAAAGTAAGAAGTAAGTTTAGCTCATCTGAGGCTATTGATTGAGGAAGAGGATAGGGTTAGAAAACTTAATTGGTTCTGAAATACATACATTTTTAAGAGGCATTCTCTTTATACTCAACTACAATTAAACAGGCAAGGTGAAGGCAGTGTGACCAGCAGAGAAGGTGGCCTCAGCATCTGTCTAGCTCTGGTCATAACCTGTGCTTTTGGCCCCTGGCTCTTTGAAGTCCTTTCAAGTTGCCTATAGCCTATGAAGCCTGGCTTGAAGCTTTTCCTTGCTCTTTCTTCCTTCCAGTCTGAGGCTGCTCTGCAATGGGAGGGCTGCAGCAGCCCTCTGCAGGCTGGCGTTGATCTGTGAGCCATGACCACCCATGGACTGCATGGAGCTAGGCCAGGACTCAGGGCTGCCGTGGACACAGTGTCACCTTGGCACTGAACACTAAGAACTGTGCTTTGCAGGGCTGTTAGGAAGAAGGTGTGTCATTTGGCCAGTTCCCAGTGATCATGACTACATACCGAACACGAAGTTGTCTGGTCTGAAGATCTGGCCGAAGGGTCCAGACCTGACAGAGTCCATGGTGCCAGGCTCCAGATCCACCAGGATGGCCCGAGGTACATATTTGTTACCTGCAGGAAATAAGAACTGACTCAGGCCTGTGCTTGGGGAGGGACTCACAGCAGCATTCAATTCCAGCATCTGAGACAAAAGGAGAACAGGAGATTTTCTGCTTTTAAGAAAAAGGAGGTCCTGAGTGTGCTTAGCCGTGGCAAACAGGCAGGAATCTTAGGAAACCATAAAACATGTTTTTCCAGCAGTTGGCATTTGAAATGAATATGCAAGAAGCATGCCTTTGTCACGTGCATGTTCCTGGGACGTTTCATCTCCCACATCATGGAAAGCAAGGATTCCTGGGCACACACATCCCGCTACTCACCAGCAGCCTCATTGTAGTACACGTTGATTCTCTCCAGCTGCAAGTCACTGTCTCCATGGTAACTGCCTGTGGGGTCGATCCCATGCTCATCGCTGATGACCTCCCAAAACTGAAATGAAAAAAGAACCACACCATGGCTCTGCATCCTGAATGTCACTAAGGATGGCCTTGTCCTCCTCCCATGTCCTTGGAACAGGGGCTTTTGTGGTCAGACAGTTAGTAAGTGCTAGACAGAGAGCAAAGAGCTGCACCCCCTATTTCCTG
Task1_train_9958
A variant found in Chromosome 6 affects TUBB2A (tubulin beta 2A class IIa). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; not provided
GGTCATGGGGGAAATGTGTTAATTTTTCACTTTAGATGTTTGTGAAATGTTGGGGAGAGTGAGGGGTTTGTTCTTAAGTGGTGGGCCATTGACCCAAAGTATTTTTAATTCCTTTTTTAGGCTGCATTTGATGCCAGAAGGCAAACACAACCTGCATTTGCGTTTTGCAGATGAATTCAACAAGTTAGCAGAAGACTTCCTACAATGAGAATGCACACTCCAGTCTTGGTGGTTCCTTCGTGTGGGGCTTGATCGTGTTGCTGCCTGTTAACATGATGCCTTTGAAACTCTCCGCCTTTGAAACTTTCTACCCCTCCCTTCAATCTTATCCTAACCAAATGAGAATAATGACATATTGAAAACAGCCTCTAGCTTCAGGCTGGGCACGGTGGCTCACAGCTATAATCTCAGCACTTTGGGAGGCTGAGGTGGGAGAATTGCCTGAGCCCAGGAGTTCAAGACCAGCTTGTGCAATATAGGGAGACTCCGGCTCTACAAAAAAGAGTTTTTCAAAATTAGCCAGGCGAAGTGGCACACATCTGTGGTCCCAGGTGCTCAGGAAGCTGAGGTGGGAGGATCACTTGAGCCCAATTCAAAGCTGCAGTGAGCTGTAATTGCATCACTGCACTCCAACCTGGGCAACAGAGTAAGACCTTGTCTTAAAAAAAAATAAAAACATAAAAAAAAATAAAAAAGGAATAAAGCCTCTAACTTCAATAGCTATGAAAATTAAATCCGATTTTCTAAGATGAAGTTGTGACAAGTTATACCATTGTCTTAACAGGTGAATTCCTGCCATAATTTATTTTCAAATAAATTTTAGGTGGAGAATGTGTAGTGTTAATGTTGGAGATTTTAAGACATCTTGAATTTGTACTGTACCTTTTATCTGAGAGGTTCAAGCTTCACTTGTGTTTTTATTTGTGTTTATCTATCATATTCAAAGAGAAGTAGGGAGAGTCCGTGCCCGAGGTCCTCAATTCTAAGATCAGAGGATGTCCAGAACAGCAGCAGATAGGGGCAGGTTTGCTTTACCCCATATCCCTCTCCTGGTTCACTTTTGAGAGATGAATACTTTGGGCCAGTAAAGGTGAACAAAATATGTATTTTCATCACTCTGTACTAAAAGGACAGGAATGTTATTAATTAAAACACTAAAGCAGAAATCCTACATTGCTATTAAAATTAAACTTTGATTACCACAATAAAAACAGTAGCAAGTTAAACCTTGACACTTTATACTTAAGCATTTAGAGAAAGAATAAAAATTATTTGAAGTGAGAACACAGACCACAAGGTTTTCTACACATGCTTTTTTATTAGTATAGATACCTTCACAGACAATACTGTAATTTTTAGAGGAGTTCCACATCATTACATCAACAGTGTGAATTTCTAACAGAGGCAAAACTGAGCACCATAGTTTACAAGTAGAAAGACCATGCTTGAGGACAACAGAAGTTCACTAAGGATGCACGATTGATCTGAGAAGTTTTTAAGCCTCGTCCTCGCCCTCCTCCTCCTCGAACTCCCCTTGTTCGTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCGGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAGGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTGGCCGACATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGTTCTGCACGTTGAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAAGATGGCAGCCACCGTCAGGTAGCGGCCGTGGCGCGGGTCGCAGGCGGCCATCATGTTCTTGGAGTCGAACATCTGCTGGGTGAGCTCGGGCACCGTGAGCGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGCGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGGAAGGGCACCATGTTCACCGCCAGCTTGCGCAGGTCTGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTCAGGGTGCGGAAGCAGATGTCATACAGGGCCTCGTTATCAATGGAGTAGGTTTCATCTGTGTTTTCCACCAGCTGGTGGACAGAGAGGGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACCTTGGGTGAGGGCATGACGCTGAAGGTGTTCATGATGCGGTCTGGGTACTCTTCCCGGATCTTGCTGATGAGCAGGGTGCCCATCCCGGACCCCGTGCCGCCCCCCAGAGAGTGGGTCAGCTGGAAGCCCTGGAGACAGTCACAGCTCTCTGACTCCTTCCTCACCACATCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTGGCCCTTGGCCCAGTTATTCCCGGCTCCACTCTGGCCTGCCAGAGGGAAAGTGAACATTAGACACTAAAACATAAGGAATTTCAAAATCTGTCATTTTGACTATGGAGGAGAAGGTAGGACTGGTCTTAGACTGGCAGATTCTTCTCTTTTGAATACTCTTCTTTTACCTGAAGAAATATTTTTCTATGTCAGTGACCTCAAAAACACTGGGGATCATAATAAAGTAAGAAGTAAGTTTAGCTCATCTGAGGCTATTGATTGAGGAAGAGGATAGGGTTAGAAAACTTAATTGGTTCTGAAATACATACATTTTTAAGAGGCATTCTCTTTATACTCAACTACAATTAAACAGGCAAGGTGAAGGCAGTGTGACCAGCAGAGAAGGTGGCCTCAGCATCTGTCTAGCTCTGGTCATAACCTGTGCTTTTGGCCCCTGGCTCTTTGAAGTCCTTTCAAGTTGCCTATAGCCTATGAAGCCTGGCTTGAAGCTTTTCCTTGCTCTTTCTTCCTTCCAGTCTGAGGCTGCTCTGCAATGGGAGGGCTGCAGCAGCCCTCTGCAGGCTGGCGTTGATCTGTGAGCCATGACCACCCATGGACTGCATGGAGCTAGGCCAGGACTCAGGGCTGCCGTGGACACAGTGTCACCTTGGCACTGAACACTAAGAACTGTGCTTTGCAGGGCTGTTAGGAAGAAGGTGTGTCATTTGGCCAGTTCCCAGTGATCATGACTACATACCGAACACGAAGTTGTCTGGTCTGAAGATCTGGCCGAAGGGTCCAGACCTGACAGAGTCCATGGTGCCAGGCTCCAGATCCACCAGGATGGCCCGAGGTACATATTTGTTACCTGCAGGAAATAAGAACTGACTCAGGCCTGTGCTTGGGGAGGGACTCACAGCAGCATTCAATTCCAGCATCTGAGACAAAAGGAGAACAGGAGATTTTCTGCTTTTAAGAAAAAGGAGGTCCTGAGTGTGCTTAGCCGTGGCAAACAGGCAGGAATCTTAGGAAACCATAAAACATGTTTTTCCAGCAGTTGGCATTTGAAATGAATATGCAAGAAGCATGCCTTTGTCACGTGCATGTTCCTGGGACGTTTCATCTCCCACATCATGGAAAGCAAGGATTCCTGGGCACACACATCCCGCTACTCACCAGCAGCCTCATTGTAGTACACGTTGATTCTCTCCAGCTGCAAGTCACTGTCTCCATGGTAACTGCCTGTGGGGTCGATCCCATGCTCATCGCTGATGACCTCCCAAAACTGAAATGAAAAAAGAACCACACCATGGCTCTGCATCCTGAATGTCACTAAGGATGGCCTTGTCCTCCTCCCATGTCCTTGGAACAGGGGCTTTTGTGGTCAGACAGTTAGTAAGTGCTAGACAGAGAGCAAAGAGCTGCACCCCCTATTTCCTGCAGCAGCCGCTGCTGAGGGGCTTGAAAATCCGCAGAGCATCGGCCATATTATGGGGATAGACTGAAAGGCTGGGAGGGGCCCTGGAGGAGGAGGGGACACAGCAGATGCCCTTCTAGGGAGAGGGTGGGGAGAGTAGAGAAGTGGAGAAGGGGTAC
GGTCATGGGGGAAATGTGTTAATTTTTCACTTTAGATGTTTGTGAAATGTTGGGGAGAGTGAGGGGTTTGTTCTTAAGTGGTGGGCCATTGACCCAAAGTATTTTTAATTCCTTTTTTAGGCTGCATTTGATGCCAGAAGGCAAACACAACCTGCATTTGCGTTTTGCAGATGAATTCAACAAGTTAGCAGAAGACTTCCTACAATGAGAATGCACACTCCAGTCTTGGTGGTTCCTTCGTGTGGGGCTTGATCGTGTTGCTGCCTGTTAACATGATGCCTTTGAAACTCTCCGCCTTTGAAACTTTCTACCCCTCCCTTCAATCTTATCCTAACCAAATGAGAATAATGACATATTGAAAACAGCCTCTAGCTTCAGGCTGGGCACGGTGGCTCACAGCTATAATCTCAGCACTTTGGGAGGCTGAGGTGGGAGAATTGCCTGAGCCCAGGAGTTCAAGACCAGCTTGTGCAATATAGGGAGACTCCGGCTCTACAAAAAAGAGTTTTTCAAAATTAGCCAGGCGAAGTGGCACACATCTGTGGTCCCAGGTGCTCAGGAAGCTGAGGTGGGAGGATCACTTGAGCCCAATTCAAAGCTGCAGTGAGCTGTAATTGCATCACTGCACTCCAACCTGGGCAACAGAGTAAGACCTTGTCTTAAAAAAAAATAAAAACATAAAAAAAAATAAAAAAGGAATAAAGCCTCTAACTTCAATAGCTATGAAAATTAAATCCGATTTTCTAAGATGAAGTTGTGACAAGTTATACCATTGTCTTAACAGGTGAATTCCTGCCATAATTTATTTTCAAATAAATTTTAGGTGGAGAATGTGTAGTGTTAATGTTGGAGATTTTAAGACATCTTGAATTTGTACTGTACCTTTTATCTGAGAGGTTCAAGCTTCACTTGTGTTTTTATTTGTGTTTATCTATCATATTCAAAGAGAAGTAGGGAGAGTCCGTGCCCGAGGTCCTCAATTCTAAGATCAGAGGATGTCCAGAACAGCAGCAGATAGGGGCAGGTTTGCTTTACCCCATATCCCTCTCCTGGTTCACTTTTGAGAGATGAATACTTTGGGCCAGTAAAGGTGAACAAAATATGTATTTTCATCACTCTGTACTAAAAGGACAGGAATGTTATTAATTAAAACACTAAAGCAGAAATCCTACATTGCTATTAAAATTAAACTTTGATTACCACAATAAAAACAGTAGCAAGTTAAACCTTGACACTTTATACTTAAGCATTTAGAGAAAGAATAAAAATTATTTGAAGTGAGAACACAGACCACAAGGTTTTCTACACATGCTTTTTTATTAGTATAGATACCTTCACAGACAATACTGTAATTTTTAGAGGAGTTCCACATCATTACATCAACAGTGTGAATTTCTAACAGAGGCAAAACTGAGCACCATAGTTTACAAGTAGAAAGACCATGCTTGAGGACAACAGAAGTTCACTAAGGATGCACGATTGATCTGAGAAGTTTTTAAGCCTCGTCCTCGCCCTCCTCCTCCTCGAACTCCCCTTGTTCGTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCGGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAGGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTGGCCGACATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGTTCTGCACGTTGAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAAGATGGCAGCCACCGTCAGGTAGCGGCCGTGGCGCGGGTCGCAGGCGGCCATCATGTTCTTGGAGTCGAACATCTGCTGGGTGAGCTCGGGCACCGTGAGCGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGCGCGAAGCCGGGCATGAAGAAGTGCAGGTGAGGGAAGGGCACCATGTTCACCGCCAGCTTGCGCAGGTCTGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTCAGGGTGCGGAAGCAGATGTCATACAGGGCCTCGTTATCAATGGAGTAGGTTTCATCTGTGTTTTCCACCAGCTGGTGGACAGAGAGGGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACCTTGGGTGAGGGCATGACGCTGAAGGTGTTCATGATGCGGTCTGGGTACTCTTCCCGGATCTTGCTGATGAGCAGGGTGCCCATCCCGGACCCCGTGCCGCCCCCCAGAGAGTGGGTCAGCTGGAAGCCCTGGAGACAGTCACAGCTCTCTGACTCCTTCCTCACCACATCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTGGCCCTTGGCCCAGTTATTCCCGGCTCCACTCTGGCCTGCCAGAGGGAAAGTGAACATTAGACACTAAAACATAAGGAATTTCAAAATCTGTCATTTTGACTATGGAGGAGAAGGTAGGACTGGTCTTAGACTGGCAGATTCTTCTCTTTTGAATACTCTTCTTTTACCTGAAGAAATATTTTTCTATGTCAGTGACCTCAAAAACACTGGGGATCATAATAAAGTAAGAAGTAAGTTTAGCTCATCTGAGGCTATTGATTGAGGAAGAGGATAGGGTTAGAAAACTTAATTGGTTCTGAAATACATACATTTTTAAGAGGCATTCTCTTTATACTCAACTACAATTAAACAGGCAAGGTGAAGGCAGTGTGACCAGCAGAGAAGGTGGCCTCAGCATCTGTCTAGCTCTGGTCATAACCTGTGCTTTTGGCCCCTGGCTCTTTGAAGTCCTTTCAAGTTGCCTATAGCCTATGAAGCCTGGCTTGAAGCTTTTCCTTGCTCTTTCTTCCTTCCAGTCTGAGGCTGCTCTGCAATGGGAGGGCTGCAGCAGCCCTCTGCAGGCTGGCGTTGATCTGTGAGCCATGACCACCCATGGACTGCATGGAGCTAGGCCAGGACTCAGGGCTGCCGTGGACACAGTGTCACCTTGGCACTGAACACTAAGAACTGTGCTTTGCAGGGCTGTTAGGAAGAAGGTGTGTCATTTGGCCAGTTCCCAGTGATCATGACTACATACCGAACACGAAGTTGTCTGGTCTGAAGATCTGGCCGAAGGGTCCAGACCTGACAGAGTCCATGGTGCCAGGCTCCAGATCCACCAGGATGGCCCGAGGTACATATTTGTTACCTGCAGGAAATAAGAACTGACTCAGGCCTGTGCTTGGGGAGGGACTCACAGCAGCATTCAATTCCAGCATCTGAGACAAAAGGAGAACAGGAGATTTTCTGCTTTTAAGAAAAAGGAGGTCCTGAGTGTGCTTAGCCGTGGCAAACAGGCAGGAATCTTAGGAAACCATAAAACATGTTTTTCCAGCAGTTGGCATTTGAAATGAATATGCAAGAAGCATGCCTTTGTCACGTGCATGTTCCTGGGACGTTTCATCTCCCACATCATGGAAAGCAAGGATTCCTGGGCACACACATCCCGCTACTCACCAGCAGCCTCATTGTAGTACACGTTGATTCTCTCCAGCTGCAAGTCACTGTCTCCATGGTAACTGCCTGTGGGGTCGATCCCATGCTCATCGCTGATGACCTCCCAAAACTGAAATGAAAAAAGAACCACACCATGGCTCTGCATCCTGAATGTCACTAAGGATGGCCTTGTCCTCCTCCCATGTCCTTGGAACAGGGGCTTTTGTGGTCAGACAGTTAGTAAGTGCTAGACAGAGAGCAAAGAGCTGCACCCCCTATTTCCTGCAGCAGCCGCTGCTGAGGGGCTTGAAAATCCGCAGAGCATCGGCCATATTATGGGGATAGACTGAAAGGCTGGGAGGGGCCCTGGAGGAGGAGGGGACACAGCAGATGCCCTTCTAGGGAGAGGGTGGGGAGAGTAGAGAAGTGGAGAAGGGGTAC
Task1_train_9959
This mutation occurs in TUBB2A (tubulin beta 2A class IIa) on Chromosome 6. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Complex cortical dysplasia with other brain malformations 5
AAATGTTGGGGAGAGTGAGGGGTTTGTTCTTAAGTGGTGGGCCATTGACCCAAAGTATTTTTAATTCCTTTTTTAGGCTGCATTTGATGCCAGAAGGCAAACACAACCTGCATTTGCGTTTTGCAGATGAATTCAACAAGTTAGCAGAAGACTTCCTACAATGAGAATGCACACTCCAGTCTTGGTGGTTCCTTCGTGTGGGGCTTGATCGTGTTGCTGCCTGTTAACATGATGCCTTTGAAACTCTCCGCCTTTGAAACTTTCTACCCCTCCCTTCAATCTTATCCTAACCAAATGAGAATAATGACATATTGAAAACAGCCTCTAGCTTCAGGCTGGGCACGGTGGCTCACAGCTATAATCTCAGCACTTTGGGAGGCTGAGGTGGGAGAATTGCCTGAGCCCAGGAGTTCAAGACCAGCTTGTGCAATATAGGGAGACTCCGGCTCTACAAAAAAGAGTTTTTCAAAATTAGCCAGGCGAAGTGGCACACATCTGTGGTCCCAGGTGCTCAGGAAGCTGAGGTGGGAGGATCACTTGAGCCCAATTCAAAGCTGCAGTGAGCTGTAATTGCATCACTGCACTCCAACCTGGGCAACAGAGTAAGACCTTGTCTTAAAAAAAAATAAAAACATAAAAAAAAATAAAAAAGGAATAAAGCCTCTAACTTCAATAGCTATGAAAATTAAATCCGATTTTCTAAGATGAAGTTGTGACAAGTTATACCATTGTCTTAACAGGTGAATTCCTGCCATAATTTATTTTCAAATAAATTTTAGGTGGAGAATGTGTAGTGTTAATGTTGGAGATTTTAAGACATCTTGAATTTGTACTGTACCTTTTATCTGAGAGGTTCAAGCTTCACTTGTGTTTTTATTTGTGTTTATCTATCATATTCAAAGAGAAGTAGGGAGAGTCCGTGCCCGAGGTCCTCAATTCTAAGATCAGAGGATGTCCAGAACAGCAGCAGATAGGGGCAGGTTTGCTTTACCCCATATCCCTCTCCTGGTTCACTTTTGAGAGATGAATACTTTGGGCCAGTAAAGGTGAACAAAATATGTATTTTCATCACTCTGTACTAAAAGGACAGGAATGTTATTAATTAAAACACTAAAGCAGAAATCCTACATTGCTATTAAAATTAAACTTTGATTACCACAATAAAAACAGTAGCAAGTTAAACCTTGACACTTTATACTTAAGCATTTAGAGAAAGAATAAAAATTATTTGAAGTGAGAACACAGACCACAAGGTTTTCTACACATGCTTTTTTATTAGTATAGATACCTTCACAGACAATACTGTAATTTTTAGAGGAGTTCCACATCATTACATCAACAGTGTGAATTTCTAACAGAGGCAAAACTGAGCACCATAGTTTACAAGTAGAAAGACCATGCTTGAGGACAACAGAAGTTCACTAAGGATGCACGATTGATCTGAGAAGTTTTTAAGCCTCGTCCTCGCCCTCCTCCTCCTCGAACTCCCCTTGTTCGTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCGGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAGGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTGGCCGACATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGTTCTGCACGTTGAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAAGATGGCAGCCACCGTCAGGTAGCGGCCGTGGCGCGGGTCGCAGGCGGCCATCATGTTCTTGGAGTCGAACATCTGCTGGGTGAGCTCGGGCACCGTGAGCGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGCGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGGAAGGGCACCATGTTCACCGCCAGCTTGCGCAGGTCTGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTCAGGGTGCGGAAGCAGATGTCATACAGGGCCTCGTTATCAATGGAGTAGGTTTCATCTGTGTTTTCCACCAGCTGGTGGACAGAGAGGGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACCTTGGGTGAGGGCATGACGCTGAAGGTGTTCATGATGCGGTCTGGGTACTCTTCCCGGATCTTGCTGATGAGCAGGGTGCCCATCCCGGACCCCGTGCCGCCCCCCAGAGAGTGGGTCAGCTGGAAGCCCTGGAGACAGTCACAGCTCTCTGACTCCTTCCTCACCACATCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTGGCCCTTGGCCCAGTTATTCCCGGCTCCACTCTGGCCTGCCAGAGGGAAAGTGAACATTAGACACTAAAACATAAGGAATTTCAAAATCTGTCATTTTGACTATGGAGGAGAAGGTAGGACTGGTCTTAGACTGGCAGATTCTTCTCTTTTGAATACTCTTCTTTTACCTGAAGAAATATTTTTCTATGTCAGTGACCTCAAAAACACTGGGGATCATAATAAAGTAAGAAGTAAGTTTAGCTCATCTGAGGCTATTGATTGAGGAAGAGGATAGGGTTAGAAAACTTAATTGGTTCTGAAATACATACATTTTTAAGAGGCATTCTCTTTATACTCAACTACAATTAAACAGGCAAGGTGAAGGCAGTGTGACCAGCAGAGAAGGTGGCCTCAGCATCTGTCTAGCTCTGGTCATAACCTGTGCTTTTGGCCCCTGGCTCTTTGAAGTCCTTTCAAGTTGCCTATAGCCTATGAAGCCTGGCTTGAAGCTTTTCCTTGCTCTTTCTTCCTTCCAGTCTGAGGCTGCTCTGCAATGGGAGGGCTGCAGCAGCCCTCTGCAGGCTGGCGTTGATCTGTGAGCCATGACCACCCATGGACTGCATGGAGCTAGGCCAGGACTCAGGGCTGCCGTGGACACAGTGTCACCTTGGCACTGAACACTAAGAACTGTGCTTTGCAGGGCTGTTAGGAAGAAGGTGTGTCATTTGGCCAGTTCCCAGTGATCATGACTACATACCGAACACGAAGTTGTCTGGTCTGAAGATCTGGCCGAAGGGTCCAGACCTGACAGAGTCCATGGTGCCAGGCTCCAGATCCACCAGGATGGCCCGAGGTACATATTTGTTACCTGCAGGAAATAAGAACTGACTCAGGCCTGTGCTTGGGGAGGGACTCACAGCAGCATTCAATTCCAGCATCTGAGACAAAAGGAGAACAGGAGATTTTCTGCTTTTAAGAAAAAGGAGGTCCTGAGTGTGCTTAGCCGTGGCAAACAGGCAGGAATCTTAGGAAACCATAAAACATGTTTTTCCAGCAGTTGGCATTTGAAATGAATATGCAAGAAGCATGCCTTTGTCACGTGCATGTTCCTGGGACGTTTCATCTCCCACATCATGGAAAGCAAGGATTCCTGGGCACACACATCCCGCTACTCACCAGCAGCCTCATTGTAGTACACGTTGATTCTCTCCAGCTGCAAGTCACTGTCTCCATGGTAACTGCCTGTGGGGTCGATCCCATGCTCATCGCTGATGACCTCCCAAAACTGAAATGAAAAAAGAACCACACCATGGCTCTGCATCCTGAATGTCACTAAGGATGGCCTTGTCCTCCTCCCATGTCCTTGGAACAGGGGCTTTTGTGGTCAGACAGTTAGTAAGTGCTAGACAGAGAGCAAAGAGCTGCACCCCCTATTTCCTGCAGCAGCCGCTGCTGAGGGGCTTGAAAATCCGCAGAGCATCGGCCATATTATGGGGATAGACTGAAAGGCTGGGAGGGGCCCTGGAGGAGGAGGGGACACAGCAGATGCCCTTCTAGGGAGAGGGTGGGGAGAGTAGAGAAGTGGAGAAGGGGTACAGGGAGGCTGTGTCACCCCAGGCAGGGCTGAATGCCATTGCATC
AAATGTTGGGGAGAGTGAGGGGTTTGTTCTTAAGTGGTGGGCCATTGACCCAAAGTATTTTTAATTCCTTTTTTAGGCTGCATTTGATGCCAGAAGGCAAACACAACCTGCATTTGCGTTTTGCAGATGAATTCAACAAGTTAGCAGAAGACTTCCTACAATGAGAATGCACACTCCAGTCTTGGTGGTTCCTTCGTGTGGGGCTTGATCGTGTTGCTGCCTGTTAACATGATGCCTTTGAAACTCTCCGCCTTTGAAACTTTCTACCCCTCCCTTCAATCTTATCCTAACCAAATGAGAATAATGACATATTGAAAACAGCCTCTAGCTTCAGGCTGGGCACGGTGGCTCACAGCTATAATCTCAGCACTTTGGGAGGCTGAGGTGGGAGAATTGCCTGAGCCCAGGAGTTCAAGACCAGCTTGTGCAATATAGGGAGACTCCGGCTCTACAAAAAAGAGTTTTTCAAAATTAGCCAGGCGAAGTGGCACACATCTGTGGTCCCAGGTGCTCAGGAAGCTGAGGTGGGAGGATCACTTGAGCCCAATTCAAAGCTGCAGTGAGCTGTAATTGCATCACTGCACTCCAACCTGGGCAACAGAGTAAGACCTTGTCTTAAAAAAAAATAAAAACATAAAAAAAAATAAAAAAGGAATAAAGCCTCTAACTTCAATAGCTATGAAAATTAAATCCGATTTTCTAAGATGAAGTTGTGACAAGTTATACCATTGTCTTAACAGGTGAATTCCTGCCATAATTTATTTTCAAATAAATTTTAGGTGGAGAATGTGTAGTGTTAATGTTGGAGATTTTAAGACATCTTGAATTTGTACTGTACCTTTTATCTGAGAGGTTCAAGCTTCACTTGTGTTTTTATTTGTGTTTATCTATCATATTCAAAGAGAAGTAGGGAGAGTCCGTGCCCGAGGTCCTCAATTCTAAGATCAGAGGATGTCCAGAACAGCAGCAGATAGGGGCAGGTTTGCTTTACCCCATATCCCTCTCCTGGTTCACTTTTGAGAGATGAATACTTTGGGCCAGTAAAGGTGAACAAAATATGTATTTTCATCACTCTGTACTAAAAGGACAGGAATGTTATTAATTAAAACACTAAAGCAGAAATCCTACATTGCTATTAAAATTAAACTTTGATTACCACAATAAAAACAGTAGCAAGTTAAACCTTGACACTTTATACTTAAGCATTTAGAGAAAGAATAAAAATTATTTGAAGTGAGAACACAGACCACAAGGTTTTCTACACATGCTTTTTTATTAGTATAGATACCTTCACAGACAATACTGTAATTTTTAGAGGAGTTCCACATCATTACATCAACAGTGTGAATTTCTAACAGAGGCAAAACTGAGCACCATAGTTTACAAGTAGAAAGACCATGCTTGAGGACAACAGAAGTTCACTAAGGATGCACGATTGATCTGAGAAGTTTTTAAGCCTCGTCCTCGCCCTCCTCCTCCTCGAACTCCCCTTGTTCGTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCGGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAGGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTGGCCGACATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGTTCTGCACGTTGAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAAGATGGCAGCCACCGTCAGGTAGCGGCCGTGGCGCGGGTCGCAGGCGGCCATCATGTTCTTGGAGTCGAACATCTGCTGGGTGAGCTCGGGCACCGTGAGCGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGCGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGGAAGGGCACCATGTTCACCGCCAGCTTGCGCAGGTCTGCCTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTCAGGGTGCGGAAGCAGATGTCATACAGGGCCTCGTTATCAATGGAGTAGGTTTCATCTGTGTTTTCCACCAGCTGGTGGACAGAGAGGGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACCTTGGGTGAGGGCATGACGCTGAAGGTGTTCATGATGCGGTCTGGGTACTCTTCCCGGATCTTGCTGATGAGCAGGGTGCCCATCCCGGACCCCGTGCCGCCCCCCAGAGAGTGGGTCAGCTGGAAGCCCTGGAGACAGTCACAGCTCTCTGACTCCTTCCTCACCACATCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTGGCCCTTGGCCCAGTTATTCCCGGCTCCACTCTGGCCTGCCAGAGGGAAAGTGAACATTAGACACTAAAACATAAGGAATTTCAAAATCTGTCATTTTGACTATGGAGGAGAAGGTAGGACTGGTCTTAGACTGGCAGATTCTTCTCTTTTGAATACTCTTCTTTTACCTGAAGAAATATTTTTCTATGTCAGTGACCTCAAAAACACTGGGGATCATAATAAAGTAAGAAGTAAGTTTAGCTCATCTGAGGCTATTGATTGAGGAAGAGGATAGGGTTAGAAAACTTAATTGGTTCTGAAATACATACATTTTTAAGAGGCATTCTCTTTATACTCAACTACAATTAAACAGGCAAGGTGAAGGCAGTGTGACCAGCAGAGAAGGTGGCCTCAGCATCTGTCTAGCTCTGGTCATAACCTGTGCTTTTGGCCCCTGGCTCTTTGAAGTCCTTTCAAGTTGCCTATAGCCTATGAAGCCTGGCTTGAAGCTTTTCCTTGCTCTTTCTTCCTTCCAGTCTGAGGCTGCTCTGCAATGGGAGGGCTGCAGCAGCCCTCTGCAGGCTGGCGTTGATCTGTGAGCCATGACCACCCATGGACTGCATGGAGCTAGGCCAGGACTCAGGGCTGCCGTGGACACAGTGTCACCTTGGCACTGAACACTAAGAACTGTGCTTTGCAGGGCTGTTAGGAAGAAGGTGTGTCATTTGGCCAGTTCCCAGTGATCATGACTACATACCGAACACGAAGTTGTCTGGTCTGAAGATCTGGCCGAAGGGTCCAGACCTGACAGAGTCCATGGTGCCAGGCTCCAGATCCACCAGGATGGCCCGAGGTACATATTTGTTACCTGCAGGAAATAAGAACTGACTCAGGCCTGTGCTTGGGGAGGGACTCACAGCAGCATTCAATTCCAGCATCTGAGACAAAAGGAGAACAGGAGATTTTCTGCTTTTAAGAAAAAGGAGGTCCTGAGTGTGCTTAGCCGTGGCAAACAGGCAGGAATCTTAGGAAACCATAAAACATGTTTTTCCAGCAGTTGGCATTTGAAATGAATATGCAAGAAGCATGCCTTTGTCACGTGCATGTTCCTGGGACGTTTCATCTCCCACATCATGGAAAGCAAGGATTCCTGGGCACACACATCCCGCTACTCACCAGCAGCCTCATTGTAGTACACGTTGATTCTCTCCAGCTGCAAGTCACTGTCTCCATGGTAACTGCCTGTGGGGTCGATCCCATGCTCATCGCTGATGACCTCCCAAAACTGAAATGAAAAAAGAACCACACCATGGCTCTGCATCCTGAATGTCACTAAGGATGGCCTTGTCCTCCTCCCATGTCCTTGGAACAGGGGCTTTTGTGGTCAGACAGTTAGTAAGTGCTAGACAGAGAGCAAAGAGCTGCACCCCCTATTTCCTGCAGCAGCCGCTGCTGAGGGGCTTGAAAATCCGCAGAGCATCGGCCATATTATGGGGATAGACTGAAAGGCTGGGAGGGGCCCTGGAGGAGGAGGGGACACAGCAGATGCCCTTCTAGGGAGAGGGTGGGGAGAGTAGAGAAGTGGAGAAGGGGTACAGGGAGGCTGTGTCACCCCAGGCAGGGCTGAATGCCATTGCATC
Task1_train_9960
Here is a variant affecting TUBB2A (tubulin beta 2A class IIa) on Chromosome 6. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; not provided
ATGAATTCAACAAGTTAGCAGAAGACTTCCTACAATGAGAATGCACACTCCAGTCTTGGTGGTTCCTTCGTGTGGGGCTTGATCGTGTTGCTGCCTGTTAACATGATGCCTTTGAAACTCTCCGCCTTTGAAACTTTCTACCCCTCCCTTCAATCTTATCCTAACCAAATGAGAATAATGACATATTGAAAACAGCCTCTAGCTTCAGGCTGGGCACGGTGGCTCACAGCTATAATCTCAGCACTTTGGGAGGCTGAGGTGGGAGAATTGCCTGAGCCCAGGAGTTCAAGACCAGCTTGTGCAATATAGGGAGACTCCGGCTCTACAAAAAAGAGTTTTTCAAAATTAGCCAGGCGAAGTGGCACACATCTGTGGTCCCAGGTGCTCAGGAAGCTGAGGTGGGAGGATCACTTGAGCCCAATTCAAAGCTGCAGTGAGCTGTAATTGCATCACTGCACTCCAACCTGGGCAACAGAGTAAGACCTTGTCTTAAAAAAAAATAAAAACATAAAAAAAAATAAAAAAGGAATAAAGCCTCTAACTTCAATAGCTATGAAAATTAAATCCGATTTTCTAAGATGAAGTTGTGACAAGTTATACCATTGTCTTAACAGGTGAATTCCTGCCATAATTTATTTTCAAATAAATTTTAGGTGGAGAATGTGTAGTGTTAATGTTGGAGATTTTAAGACATCTTGAATTTGTACTGTACCTTTTATCTGAGAGGTTCAAGCTTCACTTGTGTTTTTATTTGTGTTTATCTATCATATTCAAAGAGAAGTAGGGAGAGTCCGTGCCCGAGGTCCTCAATTCTAAGATCAGAGGATGTCCAGAACAGCAGCAGATAGGGGCAGGTTTGCTTTACCCCATATCCCTCTCCTGGTTCACTTTTGAGAGATGAATACTTTGGGCCAGTAAAGGTGAACAAAATATGTATTTTCATCACTCTGTACTAAAAGGACAGGAATGTTATTAATTAAAACACTAAAGCAGAAATCCTACATTGCTATTAAAATTAAACTTTGATTACCACAATAAAAACAGTAGCAAGTTAAACCTTGACACTTTATACTTAAGCATTTAGAGAAAGAATAAAAATTATTTGAAGTGAGAACACAGACCACAAGGTTTTCTACACATGCTTTTTTATTAGTATAGATACCTTCACAGACAATACTGTAATTTTTAGAGGAGTTCCACATCATTACATCAACAGTGTGAATTTCTAACAGAGGCAAAACTGAGCACCATAGTTTACAAGTAGAAAGACCATGCTTGAGGACAACAGAAGTTCACTAAGGATGCACGATTGATCTGAGAAGTTTTTAAGCCTCGTCCTCGCCCTCCTCCTCCTCGAACTCCCCTTGTTCGTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCGGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAGGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTGGCCGACATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGTTCTGCACGTTGAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAAGATGGCAGCCACCGTCAGGTAGCGGCCGTGGCGCGGGTCGCAGGCGGCCATCATGTTCTTGGAGTCGAACATCTGCTGGGTGAGCTCGGGCACCGTGAGCGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGCGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGGAAGGGCACCATGTTCACCGCCAGCTTGCGCAGGTCTGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTCAGGGTGCGGAAGCAGATGTCATACAGGGCCTCGTTATCAATGGAGTAGGTTTCATCTGTGTTTTCCACCAGCTGGTGGACAGAGAGGGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACCTTGGGTGAGGGCATGACGCTGAAGGTGTTCATGATGCGGTCTGGGTACTCTTCCCGGATCTTGCTGATGAGCAGGGTGCCCATCCCGGACCCCGTGCCGCCCCCCAGAGAGTGGGTCAGCTGGAAGCCCTGGAGACAGTCACAGCTCTCTGACTCCTTCCTCACCACATCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTGGCCCTTGGCCCAGTTATTCCCGGCTCCACTCTGGCCTGCCAGAGGGAAAGTGAACATTAGACACTAAAACATAAGGAATTTCAAAATCTGTCATTTTGACTATGGAGGAGAAGGTAGGACTGGTCTTAGACTGGCAGATTCTTCTCTTTTGAATACTCTTCTTTTACCTGAAGAAATATTTTTCTATGTCAGTGACCTCAAAAACACTGGGGATCATAATAAAGTAAGAAGTAAGTTTAGCTCATCTGAGGCTATTGATTGAGGAAGAGGATAGGGTTAGAAAACTTAATTGGTTCTGAAATACATACATTTTTAAGAGGCATTCTCTTTATACTCAACTACAATTAAACAGGCAAGGTGAAGGCAGTGTGACCAGCAGAGAAGGTGGCCTCAGCATCTGTCTAGCTCTGGTCATAACCTGTGCTTTTGGCCCCTGGCTCTTTGAAGTCCTTTCAAGTTGCCTATAGCCTATGAAGCCTGGCTTGAAGCTTTTCCTTGCTCTTTCTTCCTTCCAGTCTGAGGCTGCTCTGCAATGGGAGGGCTGCAGCAGCCCTCTGCAGGCTGGCGTTGATCTGTGAGCCATGACCACCCATGGACTGCATGGAGCTAGGCCAGGACTCAGGGCTGCCGTGGACACAGTGTCACCTTGGCACTGAACACTAAGAACTGTGCTTTGCAGGGCTGTTAGGAAGAAGGTGTGTCATTTGGCCAGTTCCCAGTGATCATGACTACATACCGAACACGAAGTTGTCTGGTCTGAAGATCTGGCCGAAGGGTCCAGACCTGACAGAGTCCATGGTGCCAGGCTCCAGATCCACCAGGATGGCCCGAGGTACATATTTGTTACCTGCAGGAAATAAGAACTGACTCAGGCCTGTGCTTGGGGAGGGACTCACAGCAGCATTCAATTCCAGCATCTGAGACAAAAGGAGAACAGGAGATTTTCTGCTTTTAAGAAAAAGGAGGTCCTGAGTGTGCTTAGCCGTGGCAAACAGGCAGGAATCTTAGGAAACCATAAAACATGTTTTTCCAGCAGTTGGCATTTGAAATGAATATGCAAGAAGCATGCCTTTGTCACGTGCATGTTCCTGGGACGTTTCATCTCCCACATCATGGAAAGCAAGGATTCCTGGGCACACACATCCCGCTACTCACCAGCAGCCTCATTGTAGTACACGTTGATTCTCTCCAGCTGCAAGTCACTGTCTCCATGGTAACTGCCTGTGGGGTCGATCCCATGCTCATCGCTGATGACCTCCCAAAACTGAAATGAAAAAAGAACCACACCATGGCTCTGCATCCTGAATGTCACTAAGGATGGCCTTGTCCTCCTCCCATGTCCTTGGAACAGGGGCTTTTGTGGTCAGACAGTTAGTAAGTGCTAGACAGAGAGCAAAGAGCTGCACCCCCTATTTCCTGCAGCAGCCGCTGCTGAGGGGCTTGAAAATCCGCAGAGCATCGGCCATATTATGGGGATAGACTGAAAGGCTGGGAGGGGCCCTGGAGGAGGAGGGGACACAGCAGATGCCCTTCTAGGGAGAGGGTGGGGAGAGTAGAGAAGTGGAGAAGGGGTACAGGGAGGCTGTGTCACCCCAGGCAGGGCTGAATGCCATTGCATCCGGGATGATTGATGGGTCGTGGCAGGCCAAGGACAGGGGGACCCACTCTGTGGCTGCCTCCAGGGATCAAGCTCTCTTGGCACAGATCCCAGGCACTCCTGCAACAGTGCAGGTTTAAGCCACCGA
ATGAATTCAACAAGTTAGCAGAAGACTTCCTACAATGAGAATGCACACTCCAGTCTTGGTGGTTCCTTCGTGTGGGGCTTGATCGTGTTGCTGCCTGTTAACATGATGCCTTTGAAACTCTCCGCCTTTGAAACTTTCTACCCCTCCCTTCAATCTTATCCTAACCAAATGAGAATAATGACATATTGAAAACAGCCTCTAGCTTCAGGCTGGGCACGGTGGCTCACAGCTATAATCTCAGCACTTTGGGAGGCTGAGGTGGGAGAATTGCCTGAGCCCAGGAGTTCAAGACCAGCTTGTGCAATATAGGGAGACTCCGGCTCTACAAAAAAGAGTTTTTCAAAATTAGCCAGGCGAAGTGGCACACATCTGTGGTCCCAGGTGCTCAGGAAGCTGAGGTGGGAGGATCACTTGAGCCCAATTCAAAGCTGCAGTGAGCTGTAATTGCATCACTGCACTCCAACCTGGGCAACAGAGTAAGACCTTGTCTTAAAAAAAAATAAAAACATAAAAAAAAATAAAAAAGGAATAAAGCCTCTAACTTCAATAGCTATGAAAATTAAATCCGATTTTCTAAGATGAAGTTGTGACAAGTTATACCATTGTCTTAACAGGTGAATTCCTGCCATAATTTATTTTCAAATAAATTTTAGGTGGAGAATGTGTAGTGTTAATGTTGGAGATTTTAAGACATCTTGAATTTGTACTGTACCTTTTATCTGAGAGGTTCAAGCTTCACTTGTGTTTTTATTTGTGTTTATCTATCATATTCAAAGAGAAGTAGGGAGAGTCCGTGCCCGAGGTCCTCAATTCTAAGATCAGAGGATGTCCAGAACAGCAGCAGATAGGGGCAGGTTTGCTTTACCCCATATCCCTCTCCTGGTTCACTTTTGAGAGATGAATACTTTGGGCCAGTAAAGGTGAACAAAATATGTATTTTCATCACTCTGTACTAAAAGGACAGGAATGTTATTAATTAAAACACTAAAGCAGAAATCCTACATTGCTATTAAAATTAAACTTTGATTACCACAATAAAAACAGTAGCAAGTTAAACCTTGACACTTTATACTTAAGCATTTAGAGAAAGAATAAAAATTATTTGAAGTGAGAACACAGACCACAAGGTTTTCTACACATGCTTTTTTATTAGTATAGATACCTTCACAGACAATACTGTAATTTTTAGAGGAGTTCCACATCATTACATCAACAGTGTGAATTTCTAACAGAGGCAAAACTGAGCACCATAGTTTACAAGTAGAAAGACCATGCTTGAGGACAACAGAAGTTCACTAAGGATGCACGATTGATCTGAGAAGTTTTTAAGCCTCGTCCTCGCCCTCCTCCTCCTCGAACTCCCCTTGTTCGTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCGGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAGGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTGGCCGACATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGTTCTGCACGTTGAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAAGATGGCAGCCACCGTCAGGTAGCGGCCGTGGCGCGGGTCGCAGGCGGCCATCATGTTCTTGGAGTCGAACATCTGCTGGGTGAGCTCGGGCACCGTGAGCGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGCGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGGAAGGGCACCATGTTCACCGCCAGCTTGCGCAGGTCTGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTCAGGGTGCGGAAGCAGATGTCATACAGGGCGTCGTTATCAATGGAGTAGGTTTCATCTGTGTTTTCCACCAGCTGGTGGACAGAGAGGGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACCTTGGGTGAGGGCATGACGCTGAAGGTGTTCATGATGCGGTCTGGGTACTCTTCCCGGATCTTGCTGATGAGCAGGGTGCCCATCCCGGACCCCGTGCCGCCCCCCAGAGAGTGGGTCAGCTGGAAGCCCTGGAGACAGTCACAGCTCTCTGACTCCTTCCTCACCACATCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTGGCCCTTGGCCCAGTTATTCCCGGCTCCACTCTGGCCTGCCAGAGGGAAAGTGAACATTAGACACTAAAACATAAGGAATTTCAAAATCTGTCATTTTGACTATGGAGGAGAAGGTAGGACTGGTCTTAGACTGGCAGATTCTTCTCTTTTGAATACTCTTCTTTTACCTGAAGAAATATTTTTCTATGTCAGTGACCTCAAAAACACTGGGGATCATAATAAAGTAAGAAGTAAGTTTAGCTCATCTGAGGCTATTGATTGAGGAAGAGGATAGGGTTAGAAAACTTAATTGGTTCTGAAATACATACATTTTTAAGAGGCATTCTCTTTATACTCAACTACAATTAAACAGGCAAGGTGAAGGCAGTGTGACCAGCAGAGAAGGTGGCCTCAGCATCTGTCTAGCTCTGGTCATAACCTGTGCTTTTGGCCCCTGGCTCTTTGAAGTCCTTTCAAGTTGCCTATAGCCTATGAAGCCTGGCTTGAAGCTTTTCCTTGCTCTTTCTTCCTTCCAGTCTGAGGCTGCTCTGCAATGGGAGGGCTGCAGCAGCCCTCTGCAGGCTGGCGTTGATCTGTGAGCCATGACCACCCATGGACTGCATGGAGCTAGGCCAGGACTCAGGGCTGCCGTGGACACAGTGTCACCTTGGCACTGAACACTAAGAACTGTGCTTTGCAGGGCTGTTAGGAAGAAGGTGTGTCATTTGGCCAGTTCCCAGTGATCATGACTACATACCGAACACGAAGTTGTCTGGTCTGAAGATCTGGCCGAAGGGTCCAGACCTGACAGAGTCCATGGTGCCAGGCTCCAGATCCACCAGGATGGCCCGAGGTACATATTTGTTACCTGCAGGAAATAAGAACTGACTCAGGCCTGTGCTTGGGGAGGGACTCACAGCAGCATTCAATTCCAGCATCTGAGACAAAAGGAGAACAGGAGATTTTCTGCTTTTAAGAAAAAGGAGGTCCTGAGTGTGCTTAGCCGTGGCAAACAGGCAGGAATCTTAGGAAACCATAAAACATGTTTTTCCAGCAGTTGGCATTTGAAATGAATATGCAAGAAGCATGCCTTTGTCACGTGCATGTTCCTGGGACGTTTCATCTCCCACATCATGGAAAGCAAGGATTCCTGGGCACACACATCCCGCTACTCACCAGCAGCCTCATTGTAGTACACGTTGATTCTCTCCAGCTGCAAGTCACTGTCTCCATGGTAACTGCCTGTGGGGTCGATCCCATGCTCATCGCTGATGACCTCCCAAAACTGAAATGAAAAAAGAACCACACCATGGCTCTGCATCCTGAATGTCACTAAGGATGGCCTTGTCCTCCTCCCATGTCCTTGGAACAGGGGCTTTTGTGGTCAGACAGTTAGTAAGTGCTAGACAGAGAGCAAAGAGCTGCACCCCCTATTTCCTGCAGCAGCCGCTGCTGAGGGGCTTGAAAATCCGCAGAGCATCGGCCATATTATGGGGATAGACTGAAAGGCTGGGAGGGGCCCTGGAGGAGGAGGGGACACAGCAGATGCCCTTCTAGGGAGAGGGTGGGGAGAGTAGAGAAGTGGAGAAGGGGTACAGGGAGGCTGTGTCACCCCAGGCAGGGCTGAATGCCATTGCATCCGGGATGATTGATGGGTCGTGGCAGGCCAAGGACAGGGGGACCCACTCTGTGGCTGCCTCCAGGGATCAAGCTCTCTTGGCACAGATCCCAGGCACTCCTGCAACAGTGCAGGTTTAAGCCACCGA
Task1_train_9961
Given this variant in gene TUBB2A (tubulin beta 2A class IIa) on Chromosome 6, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; not provided
AGGCTGAGGTGGGAGAATTGCCTGAGCCCAGGAGTTCAAGACCAGCTTGTGCAATATAGGGAGACTCCGGCTCTACAAAAAAGAGTTTTTCAAAATTAGCCAGGCGAAGTGGCACACATCTGTGGTCCCAGGTGCTCAGGAAGCTGAGGTGGGAGGATCACTTGAGCCCAATTCAAAGCTGCAGTGAGCTGTAATTGCATCACTGCACTCCAACCTGGGCAACAGAGTAAGACCTTGTCTTAAAAAAAAATAAAAACATAAAAAAAAATAAAAAAGGAATAAAGCCTCTAACTTCAATAGCTATGAAAATTAAATCCGATTTTCTAAGATGAAGTTGTGACAAGTTATACCATTGTCTTAACAGGTGAATTCCTGCCATAATTTATTTTCAAATAAATTTTAGGTGGAGAATGTGTAGTGTTAATGTTGGAGATTTTAAGACATCTTGAATTTGTACTGTACCTTTTATCTGAGAGGTTCAAGCTTCACTTGTGTTTTTATTTGTGTTTATCTATCATATTCAAAGAGAAGTAGGGAGAGTCCGTGCCCGAGGTCCTCAATTCTAAGATCAGAGGATGTCCAGAACAGCAGCAGATAGGGGCAGGTTTGCTTTACCCCATATCCCTCTCCTGGTTCACTTTTGAGAGATGAATACTTTGGGCCAGTAAAGGTGAACAAAATATGTATTTTCATCACTCTGTACTAAAAGGACAGGAATGTTATTAATTAAAACACTAAAGCAGAAATCCTACATTGCTATTAAAATTAAACTTTGATTACCACAATAAAAACAGTAGCAAGTTAAACCTTGACACTTTATACTTAAGCATTTAGAGAAAGAATAAAAATTATTTGAAGTGAGAACACAGACCACAAGGTTTTCTACACATGCTTTTTTATTAGTATAGATACCTTCACAGACAATACTGTAATTTTTAGAGGAGTTCCACATCATTACATCAACAGTGTGAATTTCTAACAGAGGCAAAACTGAGCACCATAGTTTACAAGTAGAAAGACCATGCTTGAGGACAACAGAAGTTCACTAAGGATGCACGATTGATCTGAGAAGTTTTTAAGCCTCGTCCTCGCCCTCCTCCTCCTCGAACTCCCCTTGTTCGTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCGGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAGGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTGGCCGACATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGTTCTGCACGTTGAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAAGATGGCAGCCACCGTCAGGTAGCGGCCGTGGCGCGGGTCGCAGGCGGCCATCATGTTCTTGGAGTCGAACATCTGCTGGGTGAGCTCGGGCACCGTGAGCGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGCGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGGAAGGGCACCATGTTCACCGCCAGCTTGCGCAGGTCTGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTCAGGGTGCGGAAGCAGATGTCATACAGGGCCTCGTTATCAATGGAGTAGGTTTCATCTGTGTTTTCCACCAGCTGGTGGACAGAGAGGGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACCTTGGGTGAGGGCATGACGCTGAAGGTGTTCATGATGCGGTCTGGGTACTCTTCCCGGATCTTGCTGATGAGCAGGGTGCCCATCCCGGACCCCGTGCCGCCCCCCAGAGAGTGGGTCAGCTGGAAGCCCTGGAGACAGTCACAGCTCTCTGACTCCTTCCTCACCACATCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTGGCCCTTGGCCCAGTTATTCCCGGCTCCACTCTGGCCTGCCAGAGGGAAAGTGAACATTAGACACTAAAACATAAGGAATTTCAAAATCTGTCATTTTGACTATGGAGGAGAAGGTAGGACTGGTCTTAGACTGGCAGATTCTTCTCTTTTGAATACTCTTCTTTTACCTGAAGAAATATTTTTCTATGTCAGTGACCTCAAAAACACTGGGGATCATAATAAAGTAAGAAGTAAGTTTAGCTCATCTGAGGCTATTGATTGAGGAAGAGGATAGGGTTAGAAAACTTAATTGGTTCTGAAATACATACATTTTTAAGAGGCATTCTCTTTATACTCAACTACAATTAAACAGGCAAGGTGAAGGCAGTGTGACCAGCAGAGAAGGTGGCCTCAGCATCTGTCTAGCTCTGGTCATAACCTGTGCTTTTGGCCCCTGGCTCTTTGAAGTCCTTTCAAGTTGCCTATAGCCTATGAAGCCTGGCTTGAAGCTTTTCCTTGCTCTTTCTTCCTTCCAGTCTGAGGCTGCTCTGCAATGGGAGGGCTGCAGCAGCCCTCTGCAGGCTGGCGTTGATCTGTGAGCCATGACCACCCATGGACTGCATGGAGCTAGGCCAGGACTCAGGGCTGCCGTGGACACAGTGTCACCTTGGCACTGAACACTAAGAACTGTGCTTTGCAGGGCTGTTAGGAAGAAGGTGTGTCATTTGGCCAGTTCCCAGTGATCATGACTACATACCGAACACGAAGTTGTCTGGTCTGAAGATCTGGCCGAAGGGTCCAGACCTGACAGAGTCCATGGTGCCAGGCTCCAGATCCACCAGGATGGCCCGAGGTACATATTTGTTACCTGCAGGAAATAAGAACTGACTCAGGCCTGTGCTTGGGGAGGGACTCACAGCAGCATTCAATTCCAGCATCTGAGACAAAAGGAGAACAGGAGATTTTCTGCTTTTAAGAAAAAGGAGGTCCTGAGTGTGCTTAGCCGTGGCAAACAGGCAGGAATCTTAGGAAACCATAAAACATGTTTTTCCAGCAGTTGGCATTTGAAATGAATATGCAAGAAGCATGCCTTTGTCACGTGCATGTTCCTGGGACGTTTCATCTCCCACATCATGGAAAGCAAGGATTCCTGGGCACACACATCCCGCTACTCACCAGCAGCCTCATTGTAGTACACGTTGATTCTCTCCAGCTGCAAGTCACTGTCTCCATGGTAACTGCCTGTGGGGTCGATCCCATGCTCATCGCTGATGACCTCCCAAAACTGAAATGAAAAAAGAACCACACCATGGCTCTGCATCCTGAATGTCACTAAGGATGGCCTTGTCCTCCTCCCATGTCCTTGGAACAGGGGCTTTTGTGGTCAGACAGTTAGTAAGTGCTAGACAGAGAGCAAAGAGCTGCACCCCCTATTTCCTGCAGCAGCCGCTGCTGAGGGGCTTGAAAATCCGCAGAGCATCGGCCATATTATGGGGATAGACTGAAAGGCTGGGAGGGGCCCTGGAGGAGGAGGGGACACAGCAGATGCCCTTCTAGGGAGAGGGTGGGGAGAGTAGAGAAGTGGAGAAGGGGTACAGGGAGGCTGTGTCACCCCAGGCAGGGCTGAATGCCATTGCATCCGGGATGATTGATGGGTCGTGGCAGGCCAAGGACAGGGGGACCCACTCTGTGGCTGCCTCCAGGGATCAAGCTCTCTTGGCACAGATCCCAGGCACTCCTGCAACAGTGCAGGTTTAAGCCACCGATCTACATGCTGGCACTGACCACCGGAGGGACTGGGCGAAGGGCAGCAGGAGCCTGGGAGGGCACCTGGGCGGCAGTGGAAGGAGCTGGCCATCGTGAGGGCGCTGGCTGCATTGTGAATTTGCGGCGGGGAGGCTGGGTGGGCAACATGGCGGTTCTCAAAGAGACCACGTCCTTGTACTGGCGCCCGCCCCCACCCATGCACCAGACCCGCTGCTGCCTCCCACACAGCGGTCGGTAATTGCAGCCCCC
AGGCTGAGGTGGGAGAATTGCCTGAGCCCAGGAGTTCAAGACCAGCTTGTGCAATATAGGGAGACTCCGGCTCTACAAAAAAGAGTTTTTCAAAATTAGCCAGGCGAAGTGGCACACATCTGTGGTCCCAGGTGCTCAGGAAGCTGAGGTGGGAGGATCACTTGAGCCCAATTCAAAGCTGCAGTGAGCTGTAATTGCATCACTGCACTCCAACCTGGGCAACAGAGTAAGACCTTGTCTTAAAAAAAAATAAAAACATAAAAAAAAATAAAAAAGGAATAAAGCCTCTAACTTCAATAGCTATGAAAATTAAATCCGATTTTCTAAGATGAAGTTGTGACAAGTTATACCATTGTCTTAACAGGTGAATTCCTGCCATAATTTATTTTCAAATAAATTTTAGGTGGAGAATGTGTAGTGTTAATGTTGGAGATTTTAAGACATCTTGAATTTGTACTGTACCTTTTATCTGAGAGGTTCAAGCTTCACTTGTGTTTTTATTTGTGTTTATCTATCATATTCAAAGAGAAGTAGGGAGAGTCCGTGCCCGAGGTCCTCAATTCTAAGATCAGAGGATGTCCAGAACAGCAGCAGATAGGGGCAGGTTTGCTTTACCCCATATCCCTCTCCTGGTTCACTTTTGAGAGATGAATACTTTGGGCCAGTAAAGGTGAACAAAATATGTATTTTCATCACTCTGTACTAAAAGGACAGGAATGTTATTAATTAAAACACTAAAGCAGAAATCCTACATTGCTATTAAAATTAAACTTTGATTACCACAATAAAAACAGTAGCAAGTTAAACCTTGACACTTTATACTTAAGCATTTAGAGAAAGAATAAAAATTATTTGAAGTGAGAACACAGACCACAAGGTTTTCTACACATGCTTTTTTATTAGTATAGATACCTTCACAGACAATACTGTAATTTTTAGAGGAGTTCCACATCATTACATCAACAGTGTGAATTTCTAACAGAGGCAAAACTGAGCACCATAGTTTACAAGTAGAAAGACCATGCTTGAGGACAACAGAAGTTCACTAAGGATGCACGATTGATCTGAGAAGTTTTTAAGCCTCGTCCTCGCCCTCCTCCTCCTCGAACTCCCCTTGTTCGTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCGGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAGGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTGGCCGACATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGTTCTGCACGTTGAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAAGATGGCAGCCACCGTCAGGTAGCGGCCGTGGCGCGGGTCGCAGGCGGCCATCATGTTCTTGGAGTCGAACATCTGCTGGGTGAGCTCGGGCACCGTGAGCGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGCGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGGAAGGGCACCATGTTCACCGCCAGCTTGCGCAGGTCTGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTCAGGGTGCGGAAGCAGATGTCATACAGGGCCTCGTTATCAATGGAGTAGGTTTCATCTGTGTTTTCCACCAGCTGGTGGACAGAGAGGGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACCTTGGGTGAGGGCATGACGCTGAAGGTGTTCATGATGCGGTCTGGGTACTCTTCCCGGATCTTGCTGATGAGCAGGGTGCCCATCCCGGACCCCGTGCCGCCCCCCAGAGAGTGGGTCAGCTGGAAGCCCTGGAGACAGTCACAGCTCTCTGACTCCGTCCTCACCACATCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTGGCCCTTGGCCCAGTTATTCCCGGCTCCACTCTGGCCTGCCAGAGGGAAAGTGAACATTAGACACTAAAACATAAGGAATTTCAAAATCTGTCATTTTGACTATGGAGGAGAAGGTAGGACTGGTCTTAGACTGGCAGATTCTTCTCTTTTGAATACTCTTCTTTTACCTGAAGAAATATTTTTCTATGTCAGTGACCTCAAAAACACTGGGGATCATAATAAAGTAAGAAGTAAGTTTAGCTCATCTGAGGCTATTGATTGAGGAAGAGGATAGGGTTAGAAAACTTAATTGGTTCTGAAATACATACATTTTTAAGAGGCATTCTCTTTATACTCAACTACAATTAAACAGGCAAGGTGAAGGCAGTGTGACCAGCAGAGAAGGTGGCCTCAGCATCTGTCTAGCTCTGGTCATAACCTGTGCTTTTGGCCCCTGGCTCTTTGAAGTCCTTTCAAGTTGCCTATAGCCTATGAAGCCTGGCTTGAAGCTTTTCCTTGCTCTTTCTTCCTTCCAGTCTGAGGCTGCTCTGCAATGGGAGGGCTGCAGCAGCCCTCTGCAGGCTGGCGTTGATCTGTGAGCCATGACCACCCATGGACTGCATGGAGCTAGGCCAGGACTCAGGGCTGCCGTGGACACAGTGTCACCTTGGCACTGAACACTAAGAACTGTGCTTTGCAGGGCTGTTAGGAAGAAGGTGTGTCATTTGGCCAGTTCCCAGTGATCATGACTACATACCGAACACGAAGTTGTCTGGTCTGAAGATCTGGCCGAAGGGTCCAGACCTGACAGAGTCCATGGTGCCAGGCTCCAGATCCACCAGGATGGCCCGAGGTACATATTTGTTACCTGCAGGAAATAAGAACTGACTCAGGCCTGTGCTTGGGGAGGGACTCACAGCAGCATTCAATTCCAGCATCTGAGACAAAAGGAGAACAGGAGATTTTCTGCTTTTAAGAAAAAGGAGGTCCTGAGTGTGCTTAGCCGTGGCAAACAGGCAGGAATCTTAGGAAACCATAAAACATGTTTTTCCAGCAGTTGGCATTTGAAATGAATATGCAAGAAGCATGCCTTTGTCACGTGCATGTTCCTGGGACGTTTCATCTCCCACATCATGGAAAGCAAGGATTCCTGGGCACACACATCCCGCTACTCACCAGCAGCCTCATTGTAGTACACGTTGATTCTCTCCAGCTGCAAGTCACTGTCTCCATGGTAACTGCCTGTGGGGTCGATCCCATGCTCATCGCTGATGACCTCCCAAAACTGAAATGAAAAAAGAACCACACCATGGCTCTGCATCCTGAATGTCACTAAGGATGGCCTTGTCCTCCTCCCATGTCCTTGGAACAGGGGCTTTTGTGGTCAGACAGTTAGTAAGTGCTAGACAGAGAGCAAAGAGCTGCACCCCCTATTTCCTGCAGCAGCCGCTGCTGAGGGGCTTGAAAATCCGCAGAGCATCGGCCATATTATGGGGATAGACTGAAAGGCTGGGAGGGGCCCTGGAGGAGGAGGGGACACAGCAGATGCCCTTCTAGGGAGAGGGTGGGGAGAGTAGAGAAGTGGAGAAGGGGTACAGGGAGGCTGTGTCACCCCAGGCAGGGCTGAATGCCATTGCATCCGGGATGATTGATGGGTCGTGGCAGGCCAAGGACAGGGGGACCCACTCTGTGGCTGCCTCCAGGGATCAAGCTCTCTTGGCACAGATCCCAGGCACTCCTGCAACAGTGCAGGTTTAAGCCACCGATCTACATGCTGGCACTGACCACCGGAGGGACTGGGCGAAGGGCAGCAGGAGCCTGGGAGGGCACCTGGGCGGCAGTGGAAGGAGCTGGCCATCGTGAGGGCGCTGGCTGCATTGTGAATTTGCGGCGGGGAGGCTGGGTGGGCAACATGGCGGTTCTCAAAGAGACCACGTCCTTGTACTGGCGCCCGCCCCCACCCATGCACCAGACCCGCTGCTGCCTCCCACACAGCGGTCGGTAATTGCAGCCCCC
Task1_train_9962
Consider a variant on Chromosome 6 in gene TUBB2A (tubulin beta 2A class IIa). Determine its clinical classification and disease relevance.
Pathogenic; not provided
GCTCTACAAAAAAGAGTTTTTCAAAATTAGCCAGGCGAAGTGGCACACATCTGTGGTCCCAGGTGCTCAGGAAGCTGAGGTGGGAGGATCACTTGAGCCCAATTCAAAGCTGCAGTGAGCTGTAATTGCATCACTGCACTCCAACCTGGGCAACAGAGTAAGACCTTGTCTTAAAAAAAAATAAAAACATAAAAAAAAATAAAAAAGGAATAAAGCCTCTAACTTCAATAGCTATGAAAATTAAATCCGATTTTCTAAGATGAAGTTGTGACAAGTTATACCATTGTCTTAACAGGTGAATTCCTGCCATAATTTATTTTCAAATAAATTTTAGGTGGAGAATGTGTAGTGTTAATGTTGGAGATTTTAAGACATCTTGAATTTGTACTGTACCTTTTATCTGAGAGGTTCAAGCTTCACTTGTGTTTTTATTTGTGTTTATCTATCATATTCAAAGAGAAGTAGGGAGAGTCCGTGCCCGAGGTCCTCAATTCTAAGATCAGAGGATGTCCAGAACAGCAGCAGATAGGGGCAGGTTTGCTTTACCCCATATCCCTCTCCTGGTTCACTTTTGAGAGATGAATACTTTGGGCCAGTAAAGGTGAACAAAATATGTATTTTCATCACTCTGTACTAAAAGGACAGGAATGTTATTAATTAAAACACTAAAGCAGAAATCCTACATTGCTATTAAAATTAAACTTTGATTACCACAATAAAAACAGTAGCAAGTTAAACCTTGACACTTTATACTTAAGCATTTAGAGAAAGAATAAAAATTATTTGAAGTGAGAACACAGACCACAAGGTTTTCTACACATGCTTTTTTATTAGTATAGATACCTTCACAGACAATACTGTAATTTTTAGAGGAGTTCCACATCATTACATCAACAGTGTGAATTTCTAACAGAGGCAAAACTGAGCACCATAGTTTACAAGTAGAAAGACCATGCTTGAGGACAACAGAAGTTCACTAAGGATGCACGATTGATCTGAGAAGTTTTTAAGCCTCGTCCTCGCCCTCCTCCTCCTCGAACTCCCCTTGTTCGTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCGGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAGGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTGGCCGACATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGTTCTGCACGTTGAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAAGATGGCAGCCACCGTCAGGTAGCGGCCGTGGCGCGGGTCGCAGGCGGCCATCATGTTCTTGGAGTCGAACATCTGCTGGGTGAGCTCGGGCACCGTGAGCGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGCGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGGAAGGGCACCATGTTCACCGCCAGCTTGCGCAGGTCTGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTCAGGGTGCGGAAGCAGATGTCATACAGGGCCTCGTTATCAATGGAGTAGGTTTCATCTGTGTTTTCCACCAGCTGGTGGACAGAGAGGGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACCTTGGGTGAGGGCATGACGCTGAAGGTGTTCATGATGCGGTCTGGGTACTCTTCCCGGATCTTGCTGATGAGCAGGGTGCCCATCCCGGACCCCGTGCCGCCCCCCAGAGAGTGGGTCAGCTGGAAGCCCTGGAGACAGTCACAGCTCTCTGACTCCTTCCTCACCACATCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTGGCCCTTGGCCCAGTTATTCCCGGCTCCACTCTGGCCTGCCAGAGGGAAAGTGAACATTAGACACTAAAACATAAGGAATTTCAAAATCTGTCATTTTGACTATGGAGGAGAAGGTAGGACTGGTCTTAGACTGGCAGATTCTTCTCTTTTGAATACTCTTCTTTTACCTGAAGAAATATTTTTCTATGTCAGTGACCTCAAAAACACTGGGGATCATAATAAAGTAAGAAGTAAGTTTAGCTCATCTGAGGCTATTGATTGAGGAAGAGGATAGGGTTAGAAAACTTAATTGGTTCTGAAATACATACATTTTTAAGAGGCATTCTCTTTATACTCAACTACAATTAAACAGGCAAGGTGAAGGCAGTGTGACCAGCAGAGAAGGTGGCCTCAGCATCTGTCTAGCTCTGGTCATAACCTGTGCTTTTGGCCCCTGGCTCTTTGAAGTCCTTTCAAGTTGCCTATAGCCTATGAAGCCTGGCTTGAAGCTTTTCCTTGCTCTTTCTTCCTTCCAGTCTGAGGCTGCTCTGCAATGGGAGGGCTGCAGCAGCCCTCTGCAGGCTGGCGTTGATCTGTGAGCCATGACCACCCATGGACTGCATGGAGCTAGGCCAGGACTCAGGGCTGCCGTGGACACAGTGTCACCTTGGCACTGAACACTAAGAACTGTGCTTTGCAGGGCTGTTAGGAAGAAGGTGTGTCATTTGGCCAGTTCCCAGTGATCATGACTACATACCGAACACGAAGTTGTCTGGTCTGAAGATCTGGCCGAAGGGTCCAGACCTGACAGAGTCCATGGTGCCAGGCTCCAGATCCACCAGGATGGCCCGAGGTACATATTTGTTACCTGCAGGAAATAAGAACTGACTCAGGCCTGTGCTTGGGGAGGGACTCACAGCAGCATTCAATTCCAGCATCTGAGACAAAAGGAGAACAGGAGATTTTCTGCTTTTAAGAAAAAGGAGGTCCTGAGTGTGCTTAGCCGTGGCAAACAGGCAGGAATCTTAGGAAACCATAAAACATGTTTTTCCAGCAGTTGGCATTTGAAATGAATATGCAAGAAGCATGCCTTTGTCACGTGCATGTTCCTGGGACGTTTCATCTCCCACATCATGGAAAGCAAGGATTCCTGGGCACACACATCCCGCTACTCACCAGCAGCCTCATTGTAGTACACGTTGATTCTCTCCAGCTGCAAGTCACTGTCTCCATGGTAACTGCCTGTGGGGTCGATCCCATGCTCATCGCTGATGACCTCCCAAAACTGAAATGAAAAAAGAACCACACCATGGCTCTGCATCCTGAATGTCACTAAGGATGGCCTTGTCCTCCTCCCATGTCCTTGGAACAGGGGCTTTTGTGGTCAGACAGTTAGTAAGTGCTAGACAGAGAGCAAAGAGCTGCACCCCCTATTTCCTGCAGCAGCCGCTGCTGAGGGGCTTGAAAATCCGCAGAGCATCGGCCATATTATGGGGATAGACTGAAAGGCTGGGAGGGGCCCTGGAGGAGGAGGGGACACAGCAGATGCCCTTCTAGGGAGAGGGTGGGGAGAGTAGAGAAGTGGAGAAGGGGTACAGGGAGGCTGTGTCACCCCAGGCAGGGCTGAATGCCATTGCATCCGGGATGATTGATGGGTCGTGGCAGGCCAAGGACAGGGGGACCCACTCTGTGGCTGCCTCCAGGGATCAAGCTCTCTTGGCACAGATCCCAGGCACTCCTGCAACAGTGCAGGTTTAAGCCACCGATCTACATGCTGGCACTGACCACCGGAGGGACTGGGCGAAGGGCAGCAGGAGCCTGGGAGGGCACCTGGGCGGCAGTGGAAGGAGCTGGCCATCGTGAGGGCGCTGGCTGCATTGTGAATTTGCGGCGGGGAGGCTGGGTGGGCAACATGGCGGTTCTCAAAGAGACCACGTCCTTGTACTGGCGCCCGCCCCCACCCATGCACCAGACCCGCTGCTGCCTCCCACACAGCGGTCGGTAATTGCAGCCCCCACCCAGCGCAGTCACCTGCCGCCTCGGGGACTGGCAGCAAGACTATCGCGTTGTATGTCATCATGTCAA
GCTCTACAAAAAAGAGTTTTTCAAAATTAGCCAGGCGAAGTGGCACACATCTGTGGTCCCAGGTGCTCAGGAAGCTGAGGTGGGAGGATCACTTGAGCCCAATTCAAAGCTGCAGTGAGCTGTAATTGCATCACTGCACTCCAACCTGGGCAACAGAGTAAGACCTTGTCTTAAAAAAAAATAAAAACATAAAAAAAAATAAAAAAGGAATAAAGCCTCTAACTTCAATAGCTATGAAAATTAAATCCGATTTTCTAAGATGAAGTTGTGACAAGTTATACCATTGTCTTAACAGGTGAATTCCTGCCATAATTTATTTTCAAATAAATTTTAGGTGGAGAATGTGTAGTGTTAATGTTGGAGATTTTAAGACATCTTGAATTTGTACTGTACCTTTTATCTGAGAGGTTCAAGCTTCACTTGTGTTTTTATTTGTGTTTATCTATCATATTCAAAGAGAAGTAGGGAGAGTCCGTGCCCGAGGTCCTCAATTCTAAGATCAGAGGATGTCCAGAACAGCAGCAGATAGGGGCAGGTTTGCTTTACCCCATATCCCTCTCCTGGTTCACTTTTGAGAGATGAATACTTTGGGCCAGTAAAGGTGAACAAAATATGTATTTTCATCACTCTGTACTAAAAGGACAGGAATGTTATTAATTAAAACACTAAAGCAGAAATCCTACATTGCTATTAAAATTAAACTTTGATTACCACAATAAAAACAGTAGCAAGTTAAACCTTGACACTTTATACTTAAGCATTTAGAGAAAGAATAAAAATTATTTGAAGTGAGAACACAGACCACAAGGTTTTCTACACATGCTTTTTTATTAGTATAGATACCTTCACAGACAATACTGTAATTTTTAGAGGAGTTCCACATCATTACATCAACAGTGTGAATTTCTAACAGAGGCAAAACTGAGCACCATAGTTTACAAGTAGAAAGACCATGCTTGAGGACAACAGAAGTTCACTAAGGATGCACGATTGATCTGAGAAGTTTTTAAGCCTCGTCCTCGCCCTCCTCCTCCTCGAACTCCCCTTGTTCGTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCGGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAGGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTGGCCGACATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGTTCTGCACGTTGAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAAGATGGCAGCCACCGTCAGGTAGCGGCCGTGGCGCGGGTCGCAGGCGGCCATCATGTTCTTGGAGTCGAACATCTGCTGGGTGAGCTCGGGCACCGTGAGCGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGCGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGGAAGGGCACCATGTTCACCGCCAGCTTGCGCAGGTCTGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTCAGGGTGCGGAAGCAGATGTCATACAGGGCCTCGTTATCAATGGAGTAGGTTTCATCTGTGTTTTCCACCAGCTGGTGGACAGAGAGGGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACCTTGGGTGAGGGCATGACGCTGAAGGTGTTCATGATGCGGTCTGGGTACTCTTCCCGGATCTTGCTGATGAGCAGGGTGCCCATCCCGGACCCCGTGCCGCCCCCCAGAGAGTGGGTCAGCTGGAAGCCCTGGAGACAGTCACAGCTCTCTGACTCCTTCCTCACCACATCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTGGCCCTTGGCCCAGTTACTCCCGGCTCCACTCTGGCCTGCCAGAGGGAAAGTGAACATTAGACACTAAAACATAAGGAATTTCAAAATCTGTCATTTTGACTATGGAGGAGAAGGTAGGACTGGTCTTAGACTGGCAGATTCTTCTCTTTTGAATACTCTTCTTTTACCTGAAGAAATATTTTTCTATGTCAGTGACCTCAAAAACACTGGGGATCATAATAAAGTAAGAAGTAAGTTTAGCTCATCTGAGGCTATTGATTGAGGAAGAGGATAGGGTTAGAAAACTTAATTGGTTCTGAAATACATACATTTTTAAGAGGCATTCTCTTTATACTCAACTACAATTAAACAGGCAAGGTGAAGGCAGTGTGACCAGCAGAGAAGGTGGCCTCAGCATCTGTCTAGCTCTGGTCATAACCTGTGCTTTTGGCCCCTGGCTCTTTGAAGTCCTTTCAAGTTGCCTATAGCCTATGAAGCCTGGCTTGAAGCTTTTCCTTGCTCTTTCTTCCTTCCAGTCTGAGGCTGCTCTGCAATGGGAGGGCTGCAGCAGCCCTCTGCAGGCTGGCGTTGATCTGTGAGCCATGACCACCCATGGACTGCATGGAGCTAGGCCAGGACTCAGGGCTGCCGTGGACACAGTGTCACCTTGGCACTGAACACTAAGAACTGTGCTTTGCAGGGCTGTTAGGAAGAAGGTGTGTCATTTGGCCAGTTCCCAGTGATCATGACTACATACCGAACACGAAGTTGTCTGGTCTGAAGATCTGGCCGAAGGGTCCAGACCTGACAGAGTCCATGGTGCCAGGCTCCAGATCCACCAGGATGGCCCGAGGTACATATTTGTTACCTGCAGGAAATAAGAACTGACTCAGGCCTGTGCTTGGGGAGGGACTCACAGCAGCATTCAATTCCAGCATCTGAGACAAAAGGAGAACAGGAGATTTTCTGCTTTTAAGAAAAAGGAGGTCCTGAGTGTGCTTAGCCGTGGCAAACAGGCAGGAATCTTAGGAAACCATAAAACATGTTTTTCCAGCAGTTGGCATTTGAAATGAATATGCAAGAAGCATGCCTTTGTCACGTGCATGTTCCTGGGACGTTTCATCTCCCACATCATGGAAAGCAAGGATTCCTGGGCACACACATCCCGCTACTCACCAGCAGCCTCATTGTAGTACACGTTGATTCTCTCCAGCTGCAAGTCACTGTCTCCATGGTAACTGCCTGTGGGGTCGATCCCATGCTCATCGCTGATGACCTCCCAAAACTGAAATGAAAAAAGAACCACACCATGGCTCTGCATCCTGAATGTCACTAAGGATGGCCTTGTCCTCCTCCCATGTCCTTGGAACAGGGGCTTTTGTGGTCAGACAGTTAGTAAGTGCTAGACAGAGAGCAAAGAGCTGCACCCCCTATTTCCTGCAGCAGCCGCTGCTGAGGGGCTTGAAAATCCGCAGAGCATCGGCCATATTATGGGGATAGACTGAAAGGCTGGGAGGGGCCCTGGAGGAGGAGGGGACACAGCAGATGCCCTTCTAGGGAGAGGGTGGGGAGAGTAGAGAAGTGGAGAAGGGGTACAGGGAGGCTGTGTCACCCCAGGCAGGGCTGAATGCCATTGCATCCGGGATGATTGATGGGTCGTGGCAGGCCAAGGACAGGGGGACCCACTCTGTGGCTGCCTCCAGGGATCAAGCTCTCTTGGCACAGATCCCAGGCACTCCTGCAACAGTGCAGGTTTAAGCCACCGATCTACATGCTGGCACTGACCACCGGAGGGACTGGGCGAAGGGCAGCAGGAGCCTGGGAGGGCACCTGGGCGGCAGTGGAAGGAGCTGGCCATCGTGAGGGCGCTGGCTGCATTGTGAATTTGCGGCGGGGAGGCTGGGTGGGCAACATGGCGGTTCTCAAAGAGACCACGTCCTTGTACTGGCGCCCGCCCCCACCCATGCACCAGACCCGCTGCTGCCTCCCACACAGCGGTCGGTAATTGCAGCCCCCACCCAGCGCAGTCACCTGCCGCCTCGGGGACTGGCAGCAAGACTATCGCGTTGTATGTCATCATGTCAA
Task1_train_9963
Here’s a variant in TUBB2B (tubulin beta 2B class IIb) located on Chromosome 6. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Complex cortical dysplasia with other brain malformations 7
TGGAAGCTTTACACCAGCTCAGCAGGAATCACATCTGCCAGTCTGCAGCTAAATATAGAAAACTGAGCTGAAGCCACTGGCTCCAGACACCTGTCTGACCCTACTCATCACTCAGTCAAGTTTTAGAGGTATATAATGCTTGGTAAAGTGAATTGTGCTCTTTTCCATTTATGGGAGCCATGTGGCAGAATTAACTTATTTTCACACTATTTGGAATTATACTGCTTATGGTTTTCTTTGGAACTATTTTCAAATATATTTCAGCCTTTTAAATAATGGAAATCTTGTATCTACACTTTTCTTTCTTTTTTTAACATTTAAGTAAGTGTAGGACCAAGCAGAATAAAATAAATATAAGGTCAGGTTTAAGGTCATATTTTTTCTAATTTTGAGTTTGTGTGAAAACTAGAAAAATCTTAAACCTGGTTTTCATGATCCTTTCTTTCTATAGGGGTGTGTAAATAAGTTTTGTACCTTTGCTTATAACTCACACTCTTTTTCTCTTCTCAAAATGAGAAACTAGCTCAGATTAAAGCAGAGTATCAGCAGTATTTTGACAAGGTATAATTTATCCCATAGGAACATCTTAACTGAAAATCCATTATTGAAATCCTATAGCTTCTTTAGTGGTTGAGTTCAAGTCCAGAGTCAGACTTGGGTTCAAATCCCAAATCCTATTTCTGCATGGAAAAAAAAATGCAATAGGCTGAAAATTATTCTGGATTGCCTACTTAAAGTAAAATTCCCCAACAATGCAGAATTTATAATTCCATCTAAACTCAAATGATGTTAAAAATAAGTACAAATAGTTTGTAATATAGTATAAATATGATTGCCTGGAGAAAAAGTTGCTTGAGAATTGAGAATGAGCCTATTCACTGTTTATAACTCTATAGCTATTCCTAAGTGCAGGTGATATAACTTAAAAAGGCACATGCCTTTGACAAAAAATTCCATTTGTGGAAATTTACAGGATAACTATTCTCATATGCACACTAATAAATGAACAAAATTATTCATTGTGACACTATGCTGTAAGTATAAACCTTAATGACCATTGGTAGGGAATTGGCTAAATAAAACATAGCACAACTATATAATGGACGCTACATATCCATTTAAAGGAGGGAAGCTCTCTGTAGGTTCAAGATACACTGTTTAGTGAAGAAGGCTGCAGAATTGTGTTAGTATCACATCATGTGTGTGAAGAAAGAGAAAAAGGAAATATCCTACATGGGTTTGAAAATATATGGAGTATTTCTGCAAGGAAGTAAGAAAGATAACCGTGATTAGGATGGTTTCCCTCCAGGGAGGAAACTGCATCAAGGAACACAGGAAAAAGACACACTCACTTTCCACTCTTCAGAATTTTGTGCTGTGAGTATGTAGGAACTATTCCAAAAATGCTTTTTTTTTTTTTGTAAAGGAGATAAAAGCATAGTAGGAATTGCACATGAAGACACACACTGTGCTTTCAAGTAGACATTTTTTCAACTAATATTTATTAAAGGTATTTTAAAACTCAGGTTGATCTCTCATCTTAACTGTGATTGGTTCAATTTTACCATACCGAAAGAATAAATTCATTTGAGCTTTTACCTACGCCTTTGCTTTTTGTTAAAGGAAGAATTCAATGCAATGTGTTCAGAAAGTTACATTTAAATCGTTAATAAAGAGAAAAAGGAAGAGAAAGAGAGGACACCATTCCGACACAAACGTTTATGTGATTTTAGCCATTACAACAGTAATTCAGAAATATCTCAAATGTTACATTGATGTCATCAATATTACAAAAAAGGAAAAAAAAAGTGACAGGCAACAGTGAAGAGCACCAGAGACCCAGCGCACACCTAAAGTAGACCATGCTTCTTTCCTTCCACTGCCAGGTTATCGTCCCGGGAAGCCCCCCACCCCCTCGCTTTCCTCCTCCGCTTTCCCTAACCCGTCTCGCGGGGGCATCTACGCCTCGTCCTCGCCCTCCTCCTCCTCGAACTCCCCTTGTTCGTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCGGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAGGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTGGCCGACATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGTTCTGCACGTTGAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAAGATGGCAGCCACCGTCAGGTAGCGGCCGTGGCGCGGGTCGCAGGCGGCCATCATGTTCTTGGAGTCGAACATCTGCTGGGTGAGCTCGGGCACCGTGAGCGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGCGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGGAAGGGCACCATGTTCACCGCCAGCTTGCGCAGGTCTGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTCAGGGTGCGGAAGCAGATGTCATACAGGGCCTCGTTGTCAATGCAGTAGGTTTCATCTGTGTTTTCCACCAGCTGGTGGACCGAGAGGGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACCTTGGGTGAGGGCATGACGCTGAAGGTGTTCATGATGCGGTCTGGGTACTCTTCCCGGATCTTGCTGATGAGCAGGGTGCCCATCCCGGACCCCGTGCCGCCCCCCAGAGAGTGGGTCAGCTGGAAGCCCTGGAGACAGTCACAGCTCTCTGACTCCTTCCTCACCACATCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTGGCCCTTGGCCCAGTTATTCCCGGCTCCACTCTGGCCTGCCAGAGGGAAAGAGAAATCTTAAGTCACCGGTGATTGTACTAAATACCTTACCTCAAACCCCTCAATATAGATCAGTGAGTCAATGCTCAGATAAGACTATTTCAGATTATCACCAAAATGGCCAAACGTTAAAATATTTGTTCATGAATATAATTATAAATAAGGAAGGCCAGGACACCAAGCTCTTAGCAGCTGAAAGGCAAACAATTTTACACTATATTAAAGCTAAGTTGGCACACCGCGGATGTTCTTCATGCTTTCCCTCTGGCAATCACACCTCTTCAGCCTCCACTGCCCAGCGTAAAATGAATCCCTCATGCTCTCAGCCACACCAGGCACTCACCAAACACGAAATTGTCTGGTCTGAAGATCTGGCCGAATGGTCCAGACCTAACCGAATCCATCGTGCCTGGCTCCAGATCCACGAGGATGGCCCGAGGAACATATTTGTTACCTGCAAGGAACAACAGTGACTTAGACCCTCAGGCAAGGACCTCTGCAGAGAAGGGCTTGGCGCCTGCTGCCATCATGCAGATGTTGCCCCAAACAAAGGGAGACCCACCATCAGGTTCTCAAAGGGCTCTGTTGGCATAAGGAAGCCCAATGAAATACTGCAGGGAAAGAGCGGGGATCCTAAACTGAATAGTCCACCCTCTCCCAGGGCCACACCCCTGGGGTCCCACGCAAGGGAAAGGGGAGAAGGTGGAAAAACTGAAGGGAGTGGGGGTGGGGCAAGGGTGATTACCAGTGGCTTCATTGTAGTAAACATTGATTCTCTCCAGCTGCAAATCACTGTCTCCATGGTAACTGCCAGTGGGGTCAATCCCATGCTCATCACTGATGACCTCCCAAAACTGAGACAGAAAGGCTGCATTTAGCCATGAACGATGCCCCCAGAAACGCCAAGGCTCACAATGAAATGTCCCCGACTCAGTTCCGACAACCCAACATTTCAGGAGCTTGAAGCTTTAAAGGGCGTCGTGACCCGGGCACAGCCGCGGGGCTTGTATTTTGCAGGTTCAGAAAGTTGAAACTGGGCGTTTCCCAGGCAAACAGCTGCCGCTCGCGGGGG
TGGAAGCTTTACACCAGCTCAGCAGGAATCACATCTGCCAGTCTGCAGCTAAATATAGAAAACTGAGCTGAAGCCACTGGCTCCAGACACCTGTCTGACCCTACTCATCACTCAGTCAAGTTTTAGAGGTATATAATGCTTGGTAAAGTGAATTGTGCTCTTTTCCATTTATGGGAGCCATGTGGCAGAATTAACTTATTTTCACACTATTTGGAATTATACTGCTTATGGTTTTCTTTGGAACTATTTTCAAATATATTTCAGCCTTTTAAATAATGGAAATCTTGTATCTACACTTTTCTTTCTTTTTTTAACATTTAAGTAAGTGTAGGACCAAGCAGAATAAAATAAATATAAGGTCAGGTTTAAGGTCATATTTTTTCTAATTTTGAGTTTGTGTGAAAACTAGAAAAATCTTAAACCTGGTTTTCATGATCCTTTCTTTCTATAGGGGTGTGTAAATAAGTTTTGTACCTTTGCTTATAACTCACACTCTTTTTCTCTTCTCAAAATGAGAAACTAGCTCAGATTAAAGCAGAGTATCAGCAGTATTTTGACAAGGTATAATTTATCCCATAGGAACATCTTAACTGAAAATCCATTATTGAAATCCTATAGCTTCTTTAGTGGTTGAGTTCAAGTCCAGAGTCAGACTTGGGTTCAAATCCCAAATCCTATTTCTGCATGGAAAAAAAAATGCAATAGGCTGAAAATTATTCTGGATTGCCTACTTAAAGTAAAATTCCCCAACAATGCAGAATTTATAATTCCATCTAAACTCAAATGATGTTAAAAATAAGTACAAATAGTTTGTAATATAGTATAAATATGATTGCCTGGAGAAAAAGTTGCTTGAGAATTGAGAATGAGCCTATTCACTGTTTATAACTCTATAGCTATTCCTAAGTGCAGGTGATATAACTTAAAAAGGCACATGCCTTTGACAAAAAATTCCATTTGTGGAAATTTACAGGATAACTATTCTCATATGCACACTAATAAATGAACAAAATTATTCATTGTGACACTATGCTGTAAGTATAAACCTTAATGACCATTGGTAGGGAATTGGCTAAATAAAACATAGCACAACTATATAATGGACGCTACATATCCATTTAAAGGAGGGAAGCTCTCTGTAGGTTCAAGATACACTGTTTAGTGAAGAAGGCTGCAGAATTGTGTTAGTATCACATCATGTGTGTGAAGAAAGAGAAAAAGGAAATATCCTACATGGGTTTGAAAATATATGGAGTATTTCTGCAAGGAAGTAAGAAAGATAACCGTGATTAGGATGGTTTCCCTCCAGGGAGGAAACTGCATCAAGGAACACAGGAAAAAGACACACTCACTTTCCACTCTTCAGAATTTTGTGCTGTGAGTATGTAGGAACTATTCCAAAAATGCTTTTTTTTTTTTTGTAAAGGAGATAAAAGCATAGTAGGAATTGCACATGAAGACACACACTGTGCTTTCAAGTAGACATTTTTTCAACTAATATTTATTAAAGGTATTTTAAAACTCAGGTTGATCTCTCATCTTAACTGTGATTGGTTCAATTTTACCATACCGAAAGAATAAATTCATTTGAGCTTTTACCTACGCCTTTGCTTTTTGTTAAAGGAAGAATTCAATGCAATGTGTTCAGAAAGTTACATTTAAATCGTTAATAAAGAGAAAAAGGAAGAGAAAGAGAGGACACCATTCCGACACAAACGTTTATGTGATTTTAGCCATTACAACAGTAATTCAGAAATATCTCAAATGTTACATTGATGTCATCAATATTACAAAAAAGGAAAAAAAAAGTGACAGGCAACAGTGAAGAGCACCAGAGACCCAGCGCACACCTAAAGTAGACCATGCTTCTTTCCTTCCACTGCCAGGTTATCGTCCCGGGAAGCCCCCCACCCCCTCGCTTTCCTCCTCCGCTTTCCCTAACCCGTCTCGCGGGGGCATCTACGCCTCGTCCTCGCCCTCCTCCTCCTCGAACTCCCCTTGTTCGTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCGGACACCAGGTTGTTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAGGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTGGCCGACATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGTTCTGCACGTTGAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAAGATGGCAGCCACCGTCAGGTAGCGGCCGTGGCGCGGGTCGCAGGCGGCCATCATGTTCTTGGAGTCGAACATCTGCTGGGTGAGCTCGGGCACCGTGAGCGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGCGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGGAAGGGCACCATGTTCACCGCCAGCTTGCGCAGGTCTGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTCAGGGTGCGGAAGCAGATGTCATACAGGGCCTCGTTGTCAATGCAGTAGGTTTCATCTGTGTTTTCCACCAGCTGGTGGACCGAGAGGGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACCTTGGGTGAGGGCATGACGCTGAAGGTGTTCATGATGCGGTCTGGGTACTCTTCCCGGATCTTGCTGATGAGCAGGGTGCCCATCCCGGACCCCGTGCCGCCCCCCAGAGAGTGGGTCAGCTGGAAGCCCTGGAGACAGTCACAGCTCTCTGACTCCTTCCTCACCACATCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTGGCCCTTGGCCCAGTTATTCCCGGCTCCACTCTGGCCTGCCAGAGGGAAAGAGAAATCTTAAGTCACCGGTGATTGTACTAAATACCTTACCTCAAACCCCTCAATATAGATCAGTGAGTCAATGCTCAGATAAGACTATTTCAGATTATCACCAAAATGGCCAAACGTTAAAATATTTGTTCATGAATATAATTATAAATAAGGAAGGCCAGGACACCAAGCTCTTAGCAGCTGAAAGGCAAACAATTTTACACTATATTAAAGCTAAGTTGGCACACCGCGGATGTTCTTCATGCTTTCCCTCTGGCAATCACACCTCTTCAGCCTCCACTGCCCAGCGTAAAATGAATCCCTCATGCTCTCAGCCACACCAGGCACTCACCAAACACGAAATTGTCTGGTCTGAAGATCTGGCCGAATGGTCCAGACCTAACCGAATCCATCGTGCCTGGCTCCAGATCCACGAGGATGGCCCGAGGAACATATTTGTTACCTGCAAGGAACAACAGTGACTTAGACCCTCAGGCAAGGACCTCTGCAGAGAAGGGCTTGGCGCCTGCTGCCATCATGCAGATGTTGCCCCAAACAAAGGGAGACCCACCATCAGGTTCTCAAAGGGCTCTGTTGGCATAAGGAAGCCCAATGAAATACTGCAGGGAAAGAGCGGGGATCCTAAACTGAATAGTCCACCCTCTCCCAGGGCCACACCCCTGGGGTCCCACGCAAGGGAAAGGGGAGAAGGTGGAAAAACTGAAGGGAGTGGGGGTGGGGCAAGGGTGATTACCAGTGGCTTCATTGTAGTAAACATTGATTCTCTCCAGCTGCAAATCACTGTCTCCATGGTAACTGCCAGTGGGGTCAATCCCATGCTCATCACTGATGACCTCCCAAAACTGAGACAGAAAGGCTGCATTTAGCCATGAACGATGCCCCCAGAAACGCCAAGGCTCACAATGAAATGTCCCCGACTCAGTTCCGACAACCCAACATTTCAGGAGCTTGAAGCTTTAAAGGGCGTCGTGACCCGGGCACAGCCGCGGGGCTTGTATTTTGCAGGTTCAGAAAGTTGAAACTGGGCGTTTCCCAGGCAAACAGCTGCCGCTCGCGGGGG
Task1_train_9964
Gene TUBB2B (tubulin beta 2B class IIb) on Chromosome 6 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Complex cortical dysplasia with other brain malformations 7
TCAGTCAAGTTTTAGAGGTATATAATGCTTGGTAAAGTGAATTGTGCTCTTTTCCATTTATGGGAGCCATGTGGCAGAATTAACTTATTTTCACACTATTTGGAATTATACTGCTTATGGTTTTCTTTGGAACTATTTTCAAATATATTTCAGCCTTTTAAATAATGGAAATCTTGTATCTACACTTTTCTTTCTTTTTTTAACATTTAAGTAAGTGTAGGACCAAGCAGAATAAAATAAATATAAGGTCAGGTTTAAGGTCATATTTTTTCTAATTTTGAGTTTGTGTGAAAACTAGAAAAATCTTAAACCTGGTTTTCATGATCCTTTCTTTCTATAGGGGTGTGTAAATAAGTTTTGTACCTTTGCTTATAACTCACACTCTTTTTCTCTTCTCAAAATGAGAAACTAGCTCAGATTAAAGCAGAGTATCAGCAGTATTTTGACAAGGTATAATTTATCCCATAGGAACATCTTAACTGAAAATCCATTATTGAAATCCTATAGCTTCTTTAGTGGTTGAGTTCAAGTCCAGAGTCAGACTTGGGTTCAAATCCCAAATCCTATTTCTGCATGGAAAAAAAAATGCAATAGGCTGAAAATTATTCTGGATTGCCTACTTAAAGTAAAATTCCCCAACAATGCAGAATTTATAATTCCATCTAAACTCAAATGATGTTAAAAATAAGTACAAATAGTTTGTAATATAGTATAAATATGATTGCCTGGAGAAAAAGTTGCTTGAGAATTGAGAATGAGCCTATTCACTGTTTATAACTCTATAGCTATTCCTAAGTGCAGGTGATATAACTTAAAAAGGCACATGCCTTTGACAAAAAATTCCATTTGTGGAAATTTACAGGATAACTATTCTCATATGCACACTAATAAATGAACAAAATTATTCATTGTGACACTATGCTGTAAGTATAAACCTTAATGACCATTGGTAGGGAATTGGCTAAATAAAACATAGCACAACTATATAATGGACGCTACATATCCATTTAAAGGAGGGAAGCTCTCTGTAGGTTCAAGATACACTGTTTAGTGAAGAAGGCTGCAGAATTGTGTTAGTATCACATCATGTGTGTGAAGAAAGAGAAAAAGGAAATATCCTACATGGGTTTGAAAATATATGGAGTATTTCTGCAAGGAAGTAAGAAAGATAACCGTGATTAGGATGGTTTCCCTCCAGGGAGGAAACTGCATCAAGGAACACAGGAAAAAGACACACTCACTTTCCACTCTTCAGAATTTTGTGCTGTGAGTATGTAGGAACTATTCCAAAAATGCTTTTTTTTTTTTTGTAAAGGAGATAAAAGCATAGTAGGAATTGCACATGAAGACACACACTGTGCTTTCAAGTAGACATTTTTTCAACTAATATTTATTAAAGGTATTTTAAAACTCAGGTTGATCTCTCATCTTAACTGTGATTGGTTCAATTTTACCATACCGAAAGAATAAATTCATTTGAGCTTTTACCTACGCCTTTGCTTTTTGTTAAAGGAAGAATTCAATGCAATGTGTTCAGAAAGTTACATTTAAATCGTTAATAAAGAGAAAAAGGAAGAGAAAGAGAGGACACCATTCCGACACAAACGTTTATGTGATTTTAGCCATTACAACAGTAATTCAGAAATATCTCAAATGTTACATTGATGTCATCAATATTACAAAAAAGGAAAAAAAAAGTGACAGGCAACAGTGAAGAGCACCAGAGACCCAGCGCACACCTAAAGTAGACCATGCTTCTTTCCTTCCACTGCCAGGTTATCGTCCCGGGAAGCCCCCCACCCCCTCGCTTTCCTCCTCCGCTTTCCCTAACCCGTCTCGCGGGGGCATCTACGCCTCGTCCTCGCCCTCCTCCTCCTCGAACTCCCCTTGTTCGTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCGGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAGGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTGGCCGACATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGTTCTGCACGTTGAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAAGATGGCAGCCACCGTCAGGTAGCGGCCGTGGCGCGGGTCGCAGGCGGCCATCATGTTCTTGGAGTCGAACATCTGCTGGGTGAGCTCGGGCACCGTGAGCGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGCGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGGAAGGGCACCATGTTCACCGCCAGCTTGCGCAGGTCTGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTCAGGGTGCGGAAGCAGATGTCATACAGGGCCTCGTTGTCAATGCAGTAGGTTTCATCTGTGTTTTCCACCAGCTGGTGGACCGAGAGGGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACCTTGGGTGAGGGCATGACGCTGAAGGTGTTCATGATGCGGTCTGGGTACTCTTCCCGGATCTTGCTGATGAGCAGGGTGCCCATCCCGGACCCCGTGCCGCCCCCCAGAGAGTGGGTCAGCTGGAAGCCCTGGAGACAGTCACAGCTCTCTGACTCCTTCCTCACCACATCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTGGCCCTTGGCCCAGTTATTCCCGGCTCCACTCTGGCCTGCCAGAGGGAAAGAGAAATCTTAAGTCACCGGTGATTGTACTAAATACCTTACCTCAAACCCCTCAATATAGATCAGTGAGTCAATGCTCAGATAAGACTATTTCAGATTATCACCAAAATGGCCAAACGTTAAAATATTTGTTCATGAATATAATTATAAATAAGGAAGGCCAGGACACCAAGCTCTTAGCAGCTGAAAGGCAAACAATTTTACACTATATTAAAGCTAAGTTGGCACACCGCGGATGTTCTTCATGCTTTCCCTCTGGCAATCACACCTCTTCAGCCTCCACTGCCCAGCGTAAAATGAATCCCTCATGCTCTCAGCCACACCAGGCACTCACCAAACACGAAATTGTCTGGTCTGAAGATCTGGCCGAATGGTCCAGACCTAACCGAATCCATCGTGCCTGGCTCCAGATCCACGAGGATGGCCCGAGGAACATATTTGTTACCTGCAAGGAACAACAGTGACTTAGACCCTCAGGCAAGGACCTCTGCAGAGAAGGGCTTGGCGCCTGCTGCCATCATGCAGATGTTGCCCCAAACAAAGGGAGACCCACCATCAGGTTCTCAAAGGGCTCTGTTGGCATAAGGAAGCCCAATGAAATACTGCAGGGAAAGAGCGGGGATCCTAAACTGAATAGTCCACCCTCTCCCAGGGCCACACCCCTGGGGTCCCACGCAAGGGAAAGGGGAGAAGGTGGAAAAACTGAAGGGAGTGGGGGTGGGGCAAGGGTGATTACCAGTGGCTTCATTGTAGTAAACATTGATTCTCTCCAGCTGCAAATCACTGTCTCCATGGTAACTGCCAGTGGGGTCAATCCCATGCTCATCACTGATGACCTCCCAAAACTGAGACAGAAAGGCTGCATTTAGCCATGAACGATGCCCCCAGAAACGCCAAGGCTCACAATGAAATGTCCCCGACTCAGTTCCGACAACCCAACATTTCAGGAGCTTGAAGCTTTAAAGGGCGTCGTGACCCGGGCACAGCCGCGGGGCTTGTATTTTGCAGGTTCAGAAAGTTGAAACTGGGCGTTTCCCAGGCAAACAGCTGCCGCTCGCGGGGGGAGGTAGGGGTCGAGGGGGTAAGGACCAGCCAAAGCCGGGCAGTGGCGGAGCTTGGCGCACTGGTCGCAGCCCCAGGCTGCGGCAGGAGGCGAGGGCACAGGGACTGCAGC
TCAGTCAAGTTTTAGAGGTATATAATGCTTGGTAAAGTGAATTGTGCTCTTTTCCATTTATGGGAGCCATGTGGCAGAATTAACTTATTTTCACACTATTTGGAATTATACTGCTTATGGTTTTCTTTGGAACTATTTTCAAATATATTTCAGCCTTTTAAATAATGGAAATCTTGTATCTACACTTTTCTTTCTTTTTTTAACATTTAAGTAAGTGTAGGACCAAGCAGAATAAAATAAATATAAGGTCAGGTTTAAGGTCATATTTTTTCTAATTTTGAGTTTGTGTGAAAACTAGAAAAATCTTAAACCTGGTTTTCATGATCCTTTCTTTCTATAGGGGTGTGTAAATAAGTTTTGTACCTTTGCTTATAACTCACACTCTTTTTCTCTTCTCAAAATGAGAAACTAGCTCAGATTAAAGCAGAGTATCAGCAGTATTTTGACAAGGTATAATTTATCCCATAGGAACATCTTAACTGAAAATCCATTATTGAAATCCTATAGCTTCTTTAGTGGTTGAGTTCAAGTCCAGAGTCAGACTTGGGTTCAAATCCCAAATCCTATTTCTGCATGGAAAAAAAAATGCAATAGGCTGAAAATTATTCTGGATTGCCTACTTAAAGTAAAATTCCCCAACAATGCAGAATTTATAATTCCATCTAAACTCAAATGATGTTAAAAATAAGTACAAATAGTTTGTAATATAGTATAAATATGATTGCCTGGAGAAAAAGTTGCTTGAGAATTGAGAATGAGCCTATTCACTGTTTATAACTCTATAGCTATTCCTAAGTGCAGGTGATATAACTTAAAAAGGCACATGCCTTTGACAAAAAATTCCATTTGTGGAAATTTACAGGATAACTATTCTCATATGCACACTAATAAATGAACAAAATTATTCATTGTGACACTATGCTGTAAGTATAAACCTTAATGACCATTGGTAGGGAATTGGCTAAATAAAACATAGCACAACTATATAATGGACGCTACATATCCATTTAAAGGAGGGAAGCTCTCTGTAGGTTCAAGATACACTGTTTAGTGAAGAAGGCTGCAGAATTGTGTTAGTATCACATCATGTGTGTGAAGAAAGAGAAAAAGGAAATATCCTACATGGGTTTGAAAATATATGGAGTATTTCTGCAAGGAAGTAAGAAAGATAACCGTGATTAGGATGGTTTCCCTCCAGGGAGGAAACTGCATCAAGGAACACAGGAAAAAGACACACTCACTTTCCACTCTTCAGAATTTTGTGCTGTGAGTATGTAGGAACTATTCCAAAAATGCTTTTTTTTTTTTTGTAAAGGAGATAAAAGCATAGTAGGAATTGCACATGAAGACACACACTGTGCTTTCAAGTAGACATTTTTTCAACTAATATTTATTAAAGGTATTTTAAAACTCAGGTTGATCTCTCATCTTAACTGTGATTGGTTCAATTTTACCATACCGAAAGAATAAATTCATTTGAGCTTTTACCTACGCCTTTGCTTTTTGTTAAAGGAAGAATTCAATGCAATGTGTTCAGAAAGTTACATTTAAATCGTTAATAAAGAGAAAAAGGAAGAGAAAGAGAGGACACCATTCCGACACAAACGTTTATGTGATTTTAGCCATTACAACAGTAATTCAGAAATATCTCAAATGTTACATTGATGTCATCAATATTACAAAAAAGGAAAAAAAAAGTGACAGGCAACAGTGAAGAGCACCAGAGACCCAGCGCACACCTAAAGTAGACCATGCTTCTTTCCTTCCACTGCCAGGTTATCGTCCCGGGAAGCCCCCCACCCCCTCGCTTTCCTCCTCCGCTTTCCCTAACCCGTCTCGCGGGGGCATCTACGCCTCGTCCTCGCCCTCCTCCTCCTCGAACTCCCCTTGTTCGTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCGGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAGGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCACTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTGGCCGACATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGTTCTGCACGTTGAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAAGATGGCAGCCACCGTCAGGTAGCGGCCGTGGCGCGGGTCGCAGGCGGCCATCATGTTCTTGGAGTCGAACATCTGCTGGGTGAGCTCGGGCACCGTGAGCGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGCGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGGAAGGGCACCATGTTCACCGCCAGCTTGCGCAGGTCTGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTCAGGGTGCGGAAGCAGATGTCATACAGGGCCTCGTTGTCAATGCAGTAGGTTTCATCTGTGTTTTCCACCAGCTGGTGGACCGAGAGGGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACCTTGGGTGAGGGCATGACGCTGAAGGTGTTCATGATGCGGTCTGGGTACTCTTCCCGGATCTTGCTGATGAGCAGGGTGCCCATCCCGGACCCCGTGCCGCCCCCCAGAGAGTGGGTCAGCTGGAAGCCCTGGAGACAGTCACAGCTCTCTGACTCCTTCCTCACCACATCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTGGCCCTTGGCCCAGTTATTCCCGGCTCCACTCTGGCCTGCCAGAGGGAAAGAGAAATCTTAAGTCACCGGTGATTGTACTAAATACCTTACCTCAAACCCCTCAATATAGATCAGTGAGTCAATGCTCAGATAAGACTATTTCAGATTATCACCAAAATGGCCAAACGTTAAAATATTTGTTCATGAATATAATTATAAATAAGGAAGGCCAGGACACCAAGCTCTTAGCAGCTGAAAGGCAAACAATTTTACACTATATTAAAGCTAAGTTGGCACACCGCGGATGTTCTTCATGCTTTCCCTCTGGCAATCACACCTCTTCAGCCTCCACTGCCCAGCGTAAAATGAATCCCTCATGCTCTCAGCCACACCAGGCACTCACCAAACACGAAATTGTCTGGTCTGAAGATCTGGCCGAATGGTCCAGACCTAACCGAATCCATCGTGCCTGGCTCCAGATCCACGAGGATGGCCCGAGGAACATATTTGTTACCTGCAAGGAACAACAGTGACTTAGACCCTCAGGCAAGGACCTCTGCAGAGAAGGGCTTGGCGCCTGCTGCCATCATGCAGATGTTGCCCCAAACAAAGGGAGACCCACCATCAGGTTCTCAAAGGGCTCTGTTGGCATAAGGAAGCCCAATGAAATACTGCAGGGAAAGAGCGGGGATCCTAAACTGAATAGTCCACCCTCTCCCAGGGCCACACCCCTGGGGTCCCACGCAAGGGAAAGGGGAGAAGGTGGAAAAACTGAAGGGAGTGGGGGTGGGGCAAGGGTGATTACCAGTGGCTTCATTGTAGTAAACATTGATTCTCTCCAGCTGCAAATCACTGTCTCCATGGTAACTGCCAGTGGGGTCAATCCCATGCTCATCACTGATGACCTCCCAAAACTGAGACAGAAAGGCTGCATTTAGCCATGAACGATGCCCCCAGAAACGCCAAGGCTCACAATGAAATGTCCCCGACTCAGTTCCGACAACCCAACATTTCAGGAGCTTGAAGCTTTAAAGGGCGTCGTGACCCGGGCACAGCCGCGGGGCTTGTATTTTGCAGGTTCAGAAAGTTGAAACTGGGCGTTTCCCAGGCAAACAGCTGCCGCTCGCGGGGGGAGGTAGGGGTCGAGGGGGTAAGGACCAGCCAAAGCCGGGCAGTGGCGGAGCTTGGCGCACTGGTCGCAGCCCCAGGCTGCGGCAGGAGGCGAGGGCACAGGGACTGCAGC
Task1_train_9965
With a mutation on Chromosome 6 in gene TUBB2B (tubulin beta 2B class IIb), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; not provided
GGAAATCTTGTATCTACACTTTTCTTTCTTTTTTTAACATTTAAGTAAGTGTAGGACCAAGCAGAATAAAATAAATATAAGGTCAGGTTTAAGGTCATATTTTTTCTAATTTTGAGTTTGTGTGAAAACTAGAAAAATCTTAAACCTGGTTTTCATGATCCTTTCTTTCTATAGGGGTGTGTAAATAAGTTTTGTACCTTTGCTTATAACTCACACTCTTTTTCTCTTCTCAAAATGAGAAACTAGCTCAGATTAAAGCAGAGTATCAGCAGTATTTTGACAAGGTATAATTTATCCCATAGGAACATCTTAACTGAAAATCCATTATTGAAATCCTATAGCTTCTTTAGTGGTTGAGTTCAAGTCCAGAGTCAGACTTGGGTTCAAATCCCAAATCCTATTTCTGCATGGAAAAAAAAATGCAATAGGCTGAAAATTATTCTGGATTGCCTACTTAAAGTAAAATTCCCCAACAATGCAGAATTTATAATTCCATCTAAACTCAAATGATGTTAAAAATAAGTACAAATAGTTTGTAATATAGTATAAATATGATTGCCTGGAGAAAAAGTTGCTTGAGAATTGAGAATGAGCCTATTCACTGTTTATAACTCTATAGCTATTCCTAAGTGCAGGTGATATAACTTAAAAAGGCACATGCCTTTGACAAAAAATTCCATTTGTGGAAATTTACAGGATAACTATTCTCATATGCACACTAATAAATGAACAAAATTATTCATTGTGACACTATGCTGTAAGTATAAACCTTAATGACCATTGGTAGGGAATTGGCTAAATAAAACATAGCACAACTATATAATGGACGCTACATATCCATTTAAAGGAGGGAAGCTCTCTGTAGGTTCAAGATACACTGTTTAGTGAAGAAGGCTGCAGAATTGTGTTAGTATCACATCATGTGTGTGAAGAAAGAGAAAAAGGAAATATCCTACATGGGTTTGAAAATATATGGAGTATTTCTGCAAGGAAGTAAGAAAGATAACCGTGATTAGGATGGTTTCCCTCCAGGGAGGAAACTGCATCAAGGAACACAGGAAAAAGACACACTCACTTTCCACTCTTCAGAATTTTGTGCTGTGAGTATGTAGGAACTATTCCAAAAATGCTTTTTTTTTTTTTGTAAAGGAGATAAAAGCATAGTAGGAATTGCACATGAAGACACACACTGTGCTTTCAAGTAGACATTTTTTCAACTAATATTTATTAAAGGTATTTTAAAACTCAGGTTGATCTCTCATCTTAACTGTGATTGGTTCAATTTTACCATACCGAAAGAATAAATTCATTTGAGCTTTTACCTACGCCTTTGCTTTTTGTTAAAGGAAGAATTCAATGCAATGTGTTCAGAAAGTTACATTTAAATCGTTAATAAAGAGAAAAAGGAAGAGAAAGAGAGGACACCATTCCGACACAAACGTTTATGTGATTTTAGCCATTACAACAGTAATTCAGAAATATCTCAAATGTTACATTGATGTCATCAATATTACAAAAAAGGAAAAAAAAAGTGACAGGCAACAGTGAAGAGCACCAGAGACCCAGCGCACACCTAAAGTAGACCATGCTTCTTTCCTTCCACTGCCAGGTTATCGTCCCGGGAAGCCCCCCACCCCCTCGCTTTCCTCCTCCGCTTTCCCTAACCCGTCTCGCGGGGGCATCTACGCCTCGTCCTCGCCCTCCTCCTCCTCGAACTCCCCTTGTTCGTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCGGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAGGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTGGCCGACATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGTTCTGCACGTTGAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAAGATGGCAGCCACCGTCAGGTAGCGGCCGTGGCGCGGGTCGCAGGCGGCCATCATGTTCTTGGAGTCGAACATCTGCTGGGTGAGCTCGGGCACCGTGAGCGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGCGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGGAAGGGCACCATGTTCACCGCCAGCTTGCGCAGGTCTGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTCAGGGTGCGGAAGCAGATGTCATACAGGGCCTCGTTGTCAATGCAGTAGGTTTCATCTGTGTTTTCCACCAGCTGGTGGACCGAGAGGGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACCTTGGGTGAGGGCATGACGCTGAAGGTGTTCATGATGCGGTCTGGGTACTCTTCCCGGATCTTGCTGATGAGCAGGGTGCCCATCCCGGACCCCGTGCCGCCCCCCAGAGAGTGGGTCAGCTGGAAGCCCTGGAGACAGTCACAGCTCTCTGACTCCTTCCTCACCACATCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTGGCCCTTGGCCCAGTTATTCCCGGCTCCACTCTGGCCTGCCAGAGGGAAAGAGAAATCTTAAGTCACCGGTGATTGTACTAAATACCTTACCTCAAACCCCTCAATATAGATCAGTGAGTCAATGCTCAGATAAGACTATTTCAGATTATCACCAAAATGGCCAAACGTTAAAATATTTGTTCATGAATATAATTATAAATAAGGAAGGCCAGGACACCAAGCTCTTAGCAGCTGAAAGGCAAACAATTTTACACTATATTAAAGCTAAGTTGGCACACCGCGGATGTTCTTCATGCTTTCCCTCTGGCAATCACACCTCTTCAGCCTCCACTGCCCAGCGTAAAATGAATCCCTCATGCTCTCAGCCACACCAGGCACTCACCAAACACGAAATTGTCTGGTCTGAAGATCTGGCCGAATGGTCCAGACCTAACCGAATCCATCGTGCCTGGCTCCAGATCCACGAGGATGGCCCGAGGAACATATTTGTTACCTGCAAGGAACAACAGTGACTTAGACCCTCAGGCAAGGACCTCTGCAGAGAAGGGCTTGGCGCCTGCTGCCATCATGCAGATGTTGCCCCAAACAAAGGGAGACCCACCATCAGGTTCTCAAAGGGCTCTGTTGGCATAAGGAAGCCCAATGAAATACTGCAGGGAAAGAGCGGGGATCCTAAACTGAATAGTCCACCCTCTCCCAGGGCCACACCCCTGGGGTCCCACGCAAGGGAAAGGGGAGAAGGTGGAAAAACTGAAGGGAGTGGGGGTGGGGCAAGGGTGATTACCAGTGGCTTCATTGTAGTAAACATTGATTCTCTCCAGCTGCAAATCACTGTCTCCATGGTAACTGCCAGTGGGGTCAATCCCATGCTCATCACTGATGACCTCCCAAAACTGAGACAGAAAGGCTGCATTTAGCCATGAACGATGCCCCCAGAAACGCCAAGGCTCACAATGAAATGTCCCCGACTCAGTTCCGACAACCCAACATTTCAGGAGCTTGAAGCTTTAAAGGGCGTCGTGACCCGGGCACAGCCGCGGGGCTTGTATTTTGCAGGTTCAGAAAGTTGAAACTGGGCGTTTCCCAGGCAAACAGCTGCCGCTCGCGGGGGGAGGTAGGGGTCGAGGGGGTAAGGACCAGCCAAAGCCGGGCAGTGGCGGAGCTTGGCGCACTGGTCGCAGCCCCAGGCTGCGGCAGGAGGCGAGGGCACAGGGACTGCAGCCCGCCAGGAGCGGGTGGGCGGGGAAAGAGGAACGCAAAGGAGCTAAAGGACCGCGGTTTTAGATTCAAAGCACGTCCTGAGACCGCAAGACAATCGCTCTCCTCCCCTCCCCCGGCAGCTCGACTCCGGTTCAAGCGAGTACAATTAATCCTCCTGGTGTCCCAGC
GGAAATCTTGTATCTACACTTTTCTTTCTTTTTTTAACATTTAAGTAAGTGTAGGACCAAGCAGAATAAAATAAATATAAGGTCAGGTTTAAGGTCATATTTTTTCTAATTTTGAGTTTGTGTGAAAACTAGAAAAATCTTAAACCTGGTTTTCATGATCCTTTCTTTCTATAGGGGTGTGTAAATAAGTTTTGTACCTTTGCTTATAACTCACACTCTTTTTCTCTTCTCAAAATGAGAAACTAGCTCAGATTAAAGCAGAGTATCAGCAGTATTTTGACAAGGTATAATTTATCCCATAGGAACATCTTAACTGAAAATCCATTATTGAAATCCTATAGCTTCTTTAGTGGTTGAGTTCAAGTCCAGAGTCAGACTTGGGTTCAAATCCCAAATCCTATTTCTGCATGGAAAAAAAAATGCAATAGGCTGAAAATTATTCTGGATTGCCTACTTAAAGTAAAATTCCCCAACAATGCAGAATTTATAATTCCATCTAAACTCAAATGATGTTAAAAATAAGTACAAATAGTTTGTAATATAGTATAAATATGATTGCCTGGAGAAAAAGTTGCTTGAGAATTGAGAATGAGCCTATTCACTGTTTATAACTCTATAGCTATTCCTAAGTGCAGGTGATATAACTTAAAAAGGCACATGCCTTTGACAAAAAATTCCATTTGTGGAAATTTACAGGATAACTATTCTCATATGCACACTAATAAATGAACAAAATTATTCATTGTGACACTATGCTGTAAGTATAAACCTTAATGACCATTGGTAGGGAATTGGCTAAATAAAACATAGCACAACTATATAATGGACGCTACATATCCATTTAAAGGAGGGAAGCTCTCTGTAGGTTCAAGATACACTGTTTAGTGAAGAAGGCTGCAGAATTGTGTTAGTATCACATCATGTGTGTGAAGAAAGAGAAAAAGGAAATATCCTACATGGGTTTGAAAATATATGGAGTATTTCTGCAAGGAAGTAAGAAAGATAACCGTGATTAGGATGGTTTCCCTCCAGGGAGGAAACTGCATCAAGGAACACAGGAAAAAGACACACTCACTTTCCACTCTTCAGAATTTTGTGCTGTGAGTATGTAGGAACTATTCCAAAAATGCTTTTTTTTTTTTTGTAAAGGAGATAAAAGCATAGTAGGAATTGCACATGAAGACACACACTGTGCTTTCAAGTAGACATTTTTTCAACTAATATTTATTAAAGGTATTTTAAAACTCAGGTTGATCTCTCATCTTAACTGTGATTGGTTCAATTTTACCATACCGAAAGAATAAATTCATTTGAGCTTTTACCTACGCCTTTGCTTTTTGTTAAAGGAAGAATTCAATGCAATGTGTTCAGAAAGTTACATTTAAATCGTTAATAAAGAGAAAAAGGAAGAGAAAGAGAGGACACCATTCCGACACAAACGTTTATGTGATTTTAGCCATTACAACAGTAATTCAGAAATATCTCAAATGTTACATTGATGTCATCAATATTACAAAAAAGGAAAAAAAAAGTGACAGGCAACAGTGAAGAGCACCAGAGACCCAGCGCACACCTAAAGTAGACCATGCTTCTTTCCTTCCACTGCCAGGTTATCGTCCCGGGAAGCCCCCCACCCCCTCGCTTTCCTCCTCCGCTTTCCCTAACCCGTCTCGCGGGGGCATCTACGCCTCGTCCTCGCCCTCCTCCTCCTCGAACTCCCCTTGTTCGTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCGGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAGGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTGGCCGACATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGTTCTGCACGTTGAGCATCTGCTCGTCCACCTCGTTCATGGACATGCGGCCCCGGAAGATGGCAGCCACCGTCAGGTAGCGGCCGTGGCGCGGGTCGCAGGCGGCCATCATGTTCTTGGAGTCGAACATCTGCTGGGTGAGCTCGGGCACCGTGAGCGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGCGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGGAAGGGCACCATGTTCACCGCCAGCTTGCGCAGGTCTGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTCAGGGTGCGGAAGCAGATGTCATACAGGGCCTCGTTGTCAATGCAGTAGGTTTCATCTGTGTTTTCCACCAGCTGGTGGACCGAGAGGGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACCTTGGGTGAGGGCATGACGCTGAAGGTGTTCATGATGCGGTCTGGGTACTCTTCCCGGATCTTGCTGATGAGCAGGGTGCCCATCCCGGACCCCGTGCCGCCCCCCAGAGAGTGGGTCAGCTGGAAGCCCTGGAGACAGTCACAGCTCTCTGACTCCTTCCTCACCACATCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTGGCCCTTGGCCCAGTTATTCCCGGCTCCACTCTGGCCTGCCAGAGGGAAAGAGAAATCTTAAGTCACCGGTGATTGTACTAAATACCTTACCTCAAACCCCTCAATATAGATCAGTGAGTCAATGCTCAGATAAGACTATTTCAGATTATCACCAAAATGGCCAAACGTTAAAATATTTGTTCATGAATATAATTATAAATAAGGAAGGCCAGGACACCAAGCTCTTAGCAGCTGAAAGGCAAACAATTTTACACTATATTAAAGCTAAGTTGGCACACCGCGGATGTTCTTCATGCTTTCCCTCTGGCAATCACACCTCTTCAGCCTCCACTGCCCAGCGTAAAATGAATCCCTCATGCTCTCAGCCACACCAGGCACTCACCAAACACGAAATTGTCTGGTCTGAAGATCTGGCCGAATGGTCCAGACCTAACCGAATCCATCGTGCCTGGCTCCAGATCCACGAGGATGGCCCGAGGAACATATTTGTTACCTGCAAGGAACAACAGTGACTTAGACCCTCAGGCAAGGACCTCTGCAGAGAAGGGCTTGGCGCCTGCTGCCATCATGCAGATGTTGCCCCAAACAAAGGGAGACCCACCATCAGGTTCTCAAAGGGCTCTGTTGGCATAAGGAAGCCCAATGAAATACTGCAGGGAAAGAGCGGGGATCCTAAACTGAATAGTCCACCCTCTCCCAGGGCCACACCCCTGGGGTCCCACGCAAGGGAAAGGGGAGAAGGTGGAAAAACTGAAGGGAGTGGGGGTGGGGCAAGGGTGATTACCAGTGGCTTCATTGTAGTAAACATTGATTCTCTCCAGCTGCAAATCACTGTCTCCATGGTAACTGCCAGTGGGGTCAATCCCATGCTCATCACTGATGACCTCCCAAAACTGAGACAGAAAGGCTGCATTTAGCCATGAACGATGCCCCCAGAAACGCCAAGGCTCACAATGAAATGTCCCCGACTCAGTTCCGACAACCCAACATTTCAGGAGCTTGAAGCTTTAAAGGGCGTCGTGACCCGGGCACAGCCGCGGGGCTTGTATTTTGCAGGTTCAGAAAGTTGAAACTGGGCGTTTCCCAGGCAAACAGCTGCCGCTCGCGGGGGGAGGTAGGGGTCGAGGGGGTAAGGACCAGCCAAAGCCGGGCAGTGGCGGAGCTTGGCGCACTGGTCGCAGCCCCAGGCTGCGGCAGGAGGCGAGGGCACAGGGACTGCAGCCCGCCAGGAGCGGGTGGGCGGGGAAAGAGGAACGCAAAGGAGCTAAAGGACCGCGGTTTTAGATTCAAAGCACGTCCTGAGACCGCAAGACAATCGCTCTCCTCCCCTCCCCCGGCAGCTCGACTCCGGTTCAAGCGAGTACAATTAATCCTCCTGGTGTCCCAGC
Task1_train_9966
Here is a mutation in TUBB2B (tubulin beta 2B class IIb) on Chromosome 6. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Complex cortical dysplasia with other brain malformations 7
TGTAAATAAGTTTTGTACCTTTGCTTATAACTCACACTCTTTTTCTCTTCTCAAAATGAGAAACTAGCTCAGATTAAAGCAGAGTATCAGCAGTATTTTGACAAGGTATAATTTATCCCATAGGAACATCTTAACTGAAAATCCATTATTGAAATCCTATAGCTTCTTTAGTGGTTGAGTTCAAGTCCAGAGTCAGACTTGGGTTCAAATCCCAAATCCTATTTCTGCATGGAAAAAAAAATGCAATAGGCTGAAAATTATTCTGGATTGCCTACTTAAAGTAAAATTCCCCAACAATGCAGAATTTATAATTCCATCTAAACTCAAATGATGTTAAAAATAAGTACAAATAGTTTGTAATATAGTATAAATATGATTGCCTGGAGAAAAAGTTGCTTGAGAATTGAGAATGAGCCTATTCACTGTTTATAACTCTATAGCTATTCCTAAGTGCAGGTGATATAACTTAAAAAGGCACATGCCTTTGACAAAAAATTCCATTTGTGGAAATTTACAGGATAACTATTCTCATATGCACACTAATAAATGAACAAAATTATTCATTGTGACACTATGCTGTAAGTATAAACCTTAATGACCATTGGTAGGGAATTGGCTAAATAAAACATAGCACAACTATATAATGGACGCTACATATCCATTTAAAGGAGGGAAGCTCTCTGTAGGTTCAAGATACACTGTTTAGTGAAGAAGGCTGCAGAATTGTGTTAGTATCACATCATGTGTGTGAAGAAAGAGAAAAAGGAAATATCCTACATGGGTTTGAAAATATATGGAGTATTTCTGCAAGGAAGTAAGAAAGATAACCGTGATTAGGATGGTTTCCCTCCAGGGAGGAAACTGCATCAAGGAACACAGGAAAAAGACACACTCACTTTCCACTCTTCAGAATTTTGTGCTGTGAGTATGTAGGAACTATTCCAAAAATGCTTTTTTTTTTTTTGTAAAGGAGATAAAAGCATAGTAGGAATTGCACATGAAGACACACACTGTGCTTTCAAGTAGACATTTTTTCAACTAATATTTATTAAAGGTATTTTAAAACTCAGGTTGATCTCTCATCTTAACTGTGATTGGTTCAATTTTACCATACCGAAAGAATAAATTCATTTGAGCTTTTACCTACGCCTTTGCTTTTTGTTAAAGGAAGAATTCAATGCAATGTGTTCAGAAAGTTACATTTAAATCGTTAATAAAGAGAAAAAGGAAGAGAAAGAGAGGACACCATTCCGACACAAACGTTTATGTGATTTTAGCCATTACAACAGTAATTCAGAAATATCTCAAATGTTACATTGATGTCATCAATATTACAAAAAAGGAAAAAAAAAGTGACAGGCAACAGTGAAGAGCACCAGAGACCCAGCGCACACCTAAAGTAGACCATGCTTCTTTCCTTCCACTGCCAGGTTATCGTCCCGGGAAGCCCCCCACCCCCTCGCTTTCCTCCTCCGCTTTCCCTAACCCGTCTCGCGGGGGCATCTACGCCTCGTCCTCGCCCTCCTCCTCCTCGAACTCCCCTTGTTCGTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCGGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAGGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTGGCCGACATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGTTCTGCACGTTGAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAAGATGGCAGCCACCGTCAGGTAGCGGCCGTGGCGCGGGTCGCAGGCGGCCATCATGTTCTTGGAGTCGAACATCTGCTGGGTGAGCTCGGGCACCGTGAGCGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGCGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGGAAGGGCACCATGTTCACCGCCAGCTTGCGCAGGTCTGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTCAGGGTGCGGAAGCAGATGTCATACAGGGCCTCGTTGTCAATGCAGTAGGTTTCATCTGTGTTTTCCACCAGCTGGTGGACCGAGAGGGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACCTTGGGTGAGGGCATGACGCTGAAGGTGTTCATGATGCGGTCTGGGTACTCTTCCCGGATCTTGCTGATGAGCAGGGTGCCCATCCCGGACCCCGTGCCGCCCCCCAGAGAGTGGGTCAGCTGGAAGCCCTGGAGACAGTCACAGCTCTCTGACTCCTTCCTCACCACATCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTGGCCCTTGGCCCAGTTATTCCCGGCTCCACTCTGGCCTGCCAGAGGGAAAGAGAAATCTTAAGTCACCGGTGATTGTACTAAATACCTTACCTCAAACCCCTCAATATAGATCAGTGAGTCAATGCTCAGATAAGACTATTTCAGATTATCACCAAAATGGCCAAACGTTAAAATATTTGTTCATGAATATAATTATAAATAAGGAAGGCCAGGACACCAAGCTCTTAGCAGCTGAAAGGCAAACAATTTTACACTATATTAAAGCTAAGTTGGCACACCGCGGATGTTCTTCATGCTTTCCCTCTGGCAATCACACCTCTTCAGCCTCCACTGCCCAGCGTAAAATGAATCCCTCATGCTCTCAGCCACACCAGGCACTCACCAAACACGAAATTGTCTGGTCTGAAGATCTGGCCGAATGGTCCAGACCTAACCGAATCCATCGTGCCTGGCTCCAGATCCACGAGGATGGCCCGAGGAACATATTTGTTACCTGCAAGGAACAACAGTGACTTAGACCCTCAGGCAAGGACCTCTGCAGAGAAGGGCTTGGCGCCTGCTGCCATCATGCAGATGTTGCCCCAAACAAAGGGAGACCCACCATCAGGTTCTCAAAGGGCTCTGTTGGCATAAGGAAGCCCAATGAAATACTGCAGGGAAAGAGCGGGGATCCTAAACTGAATAGTCCACCCTCTCCCAGGGCCACACCCCTGGGGTCCCACGCAAGGGAAAGGGGAGAAGGTGGAAAAACTGAAGGGAGTGGGGGTGGGGCAAGGGTGATTACCAGTGGCTTCATTGTAGTAAACATTGATTCTCTCCAGCTGCAAATCACTGTCTCCATGGTAACTGCCAGTGGGGTCAATCCCATGCTCATCACTGATGACCTCCCAAAACTGAGACAGAAAGGCTGCATTTAGCCATGAACGATGCCCCCAGAAACGCCAAGGCTCACAATGAAATGTCCCCGACTCAGTTCCGACAACCCAACATTTCAGGAGCTTGAAGCTTTAAAGGGCGTCGTGACCCGGGCACAGCCGCGGGGCTTGTATTTTGCAGGTTCAGAAAGTTGAAACTGGGCGTTTCCCAGGCAAACAGCTGCCGCTCGCGGGGGGAGGTAGGGGTCGAGGGGGTAAGGACCAGCCAAAGCCGGGCAGTGGCGGAGCTTGGCGCACTGGTCGCAGCCCCAGGCTGCGGCAGGAGGCGAGGGCACAGGGACTGCAGCCCGCCAGGAGCGGGTGGGCGGGGAAAGAGGAACGCAAAGGAGCTAAAGGACCGCGGTTTTAGATTCAAAGCACGTCCTGAGACCGCAAGACAATCGCTCTCCTCCCCTCCCCCGGCAGCTCGACTCCGGTTCAAGCGAGTACAATTAATCCTCCTGGTGTCCCAGCCCCTCGCGCGGAGCGCCGCGCACAGCCTCGCGGACACACCCTCGTCTTCTCCAGGCACGCGTGCCTGCCAAGCAGCCAGCGCGGAGGGAGGCCGAGGGGGTGACGGGGACTCCAAATGAGTTACAGCAGAAAGAAAGAGAGGTGCCCCCTCCGTCCGCGAAAGTCACCTCCTAGCCCAG
TGTAAATAAGTTTTGTACCTTTGCTTATAACTCACACTCTTTTTCTCTTCTCAAAATGAGAAACTAGCTCAGATTAAAGCAGAGTATCAGCAGTATTTTGACAAGGTATAATTTATCCCATAGGAACATCTTAACTGAAAATCCATTATTGAAATCCTATAGCTTCTTTAGTGGTTGAGTTCAAGTCCAGAGTCAGACTTGGGTTCAAATCCCAAATCCTATTTCTGCATGGAAAAAAAAATGCAATAGGCTGAAAATTATTCTGGATTGCCTACTTAAAGTAAAATTCCCCAACAATGCAGAATTTATAATTCCATCTAAACTCAAATGATGTTAAAAATAAGTACAAATAGTTTGTAATATAGTATAAATATGATTGCCTGGAGAAAAAGTTGCTTGAGAATTGAGAATGAGCCTATTCACTGTTTATAACTCTATAGCTATTCCTAAGTGCAGGTGATATAACTTAAAAAGGCACATGCCTTTGACAAAAAATTCCATTTGTGGAAATTTACAGGATAACTATTCTCATATGCACACTAATAAATGAACAAAATTATTCATTGTGACACTATGCTGTAAGTATAAACCTTAATGACCATTGGTAGGGAATTGGCTAAATAAAACATAGCACAACTATATAATGGACGCTACATATCCATTTAAAGGAGGGAAGCTCTCTGTAGGTTCAAGATACACTGTTTAGTGAAGAAGGCTGCAGAATTGTGTTAGTATCACATCATGTGTGTGAAGAAAGAGAAAAAGGAAATATCCTACATGGGTTTGAAAATATATGGAGTATTTCTGCAAGGAAGTAAGAAAGATAACCGTGATTAGGATGGTTTCCCTCCAGGGAGGAAACTGCATCAAGGAACACAGGAAAAAGACACACTCACTTTCCACTCTTCAGAATTTTGTGCTGTGAGTATGTAGGAACTATTCCAAAAATGCTTTTTTTTTTTTTGTAAAGGAGATAAAAGCATAGTAGGAATTGCACATGAAGACACACACTGTGCTTTCAAGTAGACATTTTTTCAACTAATATTTATTAAAGGTATTTTAAAACTCAGGTTGATCTCTCATCTTAACTGTGATTGGTTCAATTTTACCATACCGAAAGAATAAATTCATTTGAGCTTTTACCTACGCCTTTGCTTTTTGTTAAAGGAAGAATTCAATGCAATGTGTTCAGAAAGTTACATTTAAATCGTTAATAAAGAGAAAAAGGAAGAGAAAGAGAGGACACCATTCCGACACAAACGTTTATGTGATTTTAGCCATTACAACAGTAATTCAGAAATATCTCAAATGTTACATTGATGTCATCAATATTACAAAAAAGGAAAAAAAAAGTGACAGGCAACAGTGAAGAGCACCAGAGACCCAGCGCACACCTAAAGTAGACCATGCTTCTTTCCTTCCACTGCCAGGTTATCGTCCCGGGAAGCCCCCCACCCCCTCGCTTTCCTCCTCCGCTTTCCCTAACCCGTCTCGCGGGGGCATCTACGCCTCGTCCTCGCCCTCCTCCTCCTCGAACTCCCCTTGTTCGTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCGGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAGGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTGGCCGACATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGTTCTGCACGTTGAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAAGATGGCAGCCACCGTCAGGTAGCGGCCGTGGCGCGGGTCGCAGGCGGCCATCATGTTCTTGGAGTCGAACATCTGCTGGGTGAGCTCGGGCACCGTGAGCGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGCGCGAAGCCGGGCATGAAGAGGTGCAGGCGAGGGAAGGGCACCATGTTCACCGCCAGCTTGCGCAGGTCTGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTCAGGGTGCGGAAGCAGATGTCATACAGGGCCTCGTTGTCAATGCAGTAGGTTTCATCTGTGTTTTCCACCAGCTGGTGGACCGAGAGGGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACCTTGGGTGAGGGCATGACGCTGAAGGTGTTCATGATGCGGTCTGGGTACTCTTCCCGGATCTTGCTGATGAGCAGGGTGCCCATCCCGGACCCCGTGCCGCCCCCCAGAGAGTGGGTCAGCTGGAAGCCCTGGAGACAGTCACAGCTCTCTGACTCCTTCCTCACCACATCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTGGCCCTTGGCCCAGTTATTCCCGGCTCCACTCTGGCCTGCCAGAGGGAAAGAGAAATCTTAAGTCACCGGTGATTGTACTAAATACCTTACCTCAAACCCCTCAATATAGATCAGTGAGTCAATGCTCAGATAAGACTATTTCAGATTATCACCAAAATGGCCAAACGTTAAAATATTTGTTCATGAATATAATTATAAATAAGGAAGGCCAGGACACCAAGCTCTTAGCAGCTGAAAGGCAAACAATTTTACACTATATTAAAGCTAAGTTGGCACACCGCGGATGTTCTTCATGCTTTCCCTCTGGCAATCACACCTCTTCAGCCTCCACTGCCCAGCGTAAAATGAATCCCTCATGCTCTCAGCCACACCAGGCACTCACCAAACACGAAATTGTCTGGTCTGAAGATCTGGCCGAATGGTCCAGACCTAACCGAATCCATCGTGCCTGGCTCCAGATCCACGAGGATGGCCCGAGGAACATATTTGTTACCTGCAAGGAACAACAGTGACTTAGACCCTCAGGCAAGGACCTCTGCAGAGAAGGGCTTGGCGCCTGCTGCCATCATGCAGATGTTGCCCCAAACAAAGGGAGACCCACCATCAGGTTCTCAAAGGGCTCTGTTGGCATAAGGAAGCCCAATGAAATACTGCAGGGAAAGAGCGGGGATCCTAAACTGAATAGTCCACCCTCTCCCAGGGCCACACCCCTGGGGTCCCACGCAAGGGAAAGGGGAGAAGGTGGAAAAACTGAAGGGAGTGGGGGTGGGGCAAGGGTGATTACCAGTGGCTTCATTGTAGTAAACATTGATTCTCTCCAGCTGCAAATCACTGTCTCCATGGTAACTGCCAGTGGGGTCAATCCCATGCTCATCACTGATGACCTCCCAAAACTGAGACAGAAAGGCTGCATTTAGCCATGAACGATGCCCCCAGAAACGCCAAGGCTCACAATGAAATGTCCCCGACTCAGTTCCGACAACCCAACATTTCAGGAGCTTGAAGCTTTAAAGGGCGTCGTGACCCGGGCACAGCCGCGGGGCTTGTATTTTGCAGGTTCAGAAAGTTGAAACTGGGCGTTTCCCAGGCAAACAGCTGCCGCTCGCGGGGGGAGGTAGGGGTCGAGGGGGTAAGGACCAGCCAAAGCCGGGCAGTGGCGGAGCTTGGCGCACTGGTCGCAGCCCCAGGCTGCGGCAGGAGGCGAGGGCACAGGGACTGCAGCCCGCCAGGAGCGGGTGGGCGGGGAAAGAGGAACGCAAAGGAGCTAAAGGACCGCGGTTTTAGATTCAAAGCACGTCCTGAGACCGCAAGACAATCGCTCTCCTCCCCTCCCCCGGCAGCTCGACTCCGGTTCAAGCGAGTACAATTAATCCTCCTGGTGTCCCAGCCCCTCGCGCGGAGCGCCGCGCACAGCCTCGCGGACACACCCTCGTCTTCTCCAGGCACGCGTGCCTGCCAAGCAGCCAGCGCGGAGGGAGGCCGAGGGGGTGACGGGGACTCCAAATGAGTTACAGCAGAAAGAAAGAGAGGTGCCCCCTCCGTCCGCGAAAGTCACCTCCTAGCCCAG
Task1_train_9967
This gene mutation involves TUBB2B (tubulin beta 2B class IIb) on Chromosome 6. Is it associated with any clinical condition, or is it benign?
Pathogenic; Complex cortical dysplasia with other brain malformations 7
CCTTTGCTTATAACTCACACTCTTTTTCTCTTCTCAAAATGAGAAACTAGCTCAGATTAAAGCAGAGTATCAGCAGTATTTTGACAAGGTATAATTTATCCCATAGGAACATCTTAACTGAAAATCCATTATTGAAATCCTATAGCTTCTTTAGTGGTTGAGTTCAAGTCCAGAGTCAGACTTGGGTTCAAATCCCAAATCCTATTTCTGCATGGAAAAAAAAATGCAATAGGCTGAAAATTATTCTGGATTGCCTACTTAAAGTAAAATTCCCCAACAATGCAGAATTTATAATTCCATCTAAACTCAAATGATGTTAAAAATAAGTACAAATAGTTTGTAATATAGTATAAATATGATTGCCTGGAGAAAAAGTTGCTTGAGAATTGAGAATGAGCCTATTCACTGTTTATAACTCTATAGCTATTCCTAAGTGCAGGTGATATAACTTAAAAAGGCACATGCCTTTGACAAAAAATTCCATTTGTGGAAATTTACAGGATAACTATTCTCATATGCACACTAATAAATGAACAAAATTATTCATTGTGACACTATGCTGTAAGTATAAACCTTAATGACCATTGGTAGGGAATTGGCTAAATAAAACATAGCACAACTATATAATGGACGCTACATATCCATTTAAAGGAGGGAAGCTCTCTGTAGGTTCAAGATACACTGTTTAGTGAAGAAGGCTGCAGAATTGTGTTAGTATCACATCATGTGTGTGAAGAAAGAGAAAAAGGAAATATCCTACATGGGTTTGAAAATATATGGAGTATTTCTGCAAGGAAGTAAGAAAGATAACCGTGATTAGGATGGTTTCCCTCCAGGGAGGAAACTGCATCAAGGAACACAGGAAAAAGACACACTCACTTTCCACTCTTCAGAATTTTGTGCTGTGAGTATGTAGGAACTATTCCAAAAATGCTTTTTTTTTTTTTGTAAAGGAGATAAAAGCATAGTAGGAATTGCACATGAAGACACACACTGTGCTTTCAAGTAGACATTTTTTCAACTAATATTTATTAAAGGTATTTTAAAACTCAGGTTGATCTCTCATCTTAACTGTGATTGGTTCAATTTTACCATACCGAAAGAATAAATTCATTTGAGCTTTTACCTACGCCTTTGCTTTTTGTTAAAGGAAGAATTCAATGCAATGTGTTCAGAAAGTTACATTTAAATCGTTAATAAAGAGAAAAAGGAAGAGAAAGAGAGGACACCATTCCGACACAAACGTTTATGTGATTTTAGCCATTACAACAGTAATTCAGAAATATCTCAAATGTTACATTGATGTCATCAATATTACAAAAAAGGAAAAAAAAAGTGACAGGCAACAGTGAAGAGCACCAGAGACCCAGCGCACACCTAAAGTAGACCATGCTTCTTTCCTTCCACTGCCAGGTTATCGTCCCGGGAAGCCCCCCACCCCCTCGCTTTCCTCCTCCGCTTTCCCTAACCCGTCTCGCGGGGGCATCTACGCCTCGTCCTCGCCCTCCTCCTCCTCGAACTCCCCTTGTTCGTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCGGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAGGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTGGCCGACATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGTTCTGCACGTTGAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAAGATGGCAGCCACCGTCAGGTAGCGGCCGTGGCGCGGGTCGCAGGCGGCCATCATGTTCTTGGAGTCGAACATCTGCTGGGTGAGCTCGGGCACCGTGAGCGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGCGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGGAAGGGCACCATGTTCACCGCCAGCTTGCGCAGGTCTGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTCAGGGTGCGGAAGCAGATGTCATACAGGGCCTCGTTGTCAATGCAGTAGGTTTCATCTGTGTTTTCCACCAGCTGGTGGACCGAGAGGGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACCTTGGGTGAGGGCATGACGCTGAAGGTGTTCATGATGCGGTCTGGGTACTCTTCCCGGATCTTGCTGATGAGCAGGGTGCCCATCCCGGACCCCGTGCCGCCCCCCAGAGAGTGGGTCAGCTGGAAGCCCTGGAGACAGTCACAGCTCTCTGACTCCTTCCTCACCACATCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTGGCCCTTGGCCCAGTTATTCCCGGCTCCACTCTGGCCTGCCAGAGGGAAAGAGAAATCTTAAGTCACCGGTGATTGTACTAAATACCTTACCTCAAACCCCTCAATATAGATCAGTGAGTCAATGCTCAGATAAGACTATTTCAGATTATCACCAAAATGGCCAAACGTTAAAATATTTGTTCATGAATATAATTATAAATAAGGAAGGCCAGGACACCAAGCTCTTAGCAGCTGAAAGGCAAACAATTTTACACTATATTAAAGCTAAGTTGGCACACCGCGGATGTTCTTCATGCTTTCCCTCTGGCAATCACACCTCTTCAGCCTCCACTGCCCAGCGTAAAATGAATCCCTCATGCTCTCAGCCACACCAGGCACTCACCAAACACGAAATTGTCTGGTCTGAAGATCTGGCCGAATGGTCCAGACCTAACCGAATCCATCGTGCCTGGCTCCAGATCCACGAGGATGGCCCGAGGAACATATTTGTTACCTGCAAGGAACAACAGTGACTTAGACCCTCAGGCAAGGACCTCTGCAGAGAAGGGCTTGGCGCCTGCTGCCATCATGCAGATGTTGCCCCAAACAAAGGGAGACCCACCATCAGGTTCTCAAAGGGCTCTGTTGGCATAAGGAAGCCCAATGAAATACTGCAGGGAAAGAGCGGGGATCCTAAACTGAATAGTCCACCCTCTCCCAGGGCCACACCCCTGGGGTCCCACGCAAGGGAAAGGGGAGAAGGTGGAAAAACTGAAGGGAGTGGGGGTGGGGCAAGGGTGATTACCAGTGGCTTCATTGTAGTAAACATTGATTCTCTCCAGCTGCAAATCACTGTCTCCATGGTAACTGCCAGTGGGGTCAATCCCATGCTCATCACTGATGACCTCCCAAAACTGAGACAGAAAGGCTGCATTTAGCCATGAACGATGCCCCCAGAAACGCCAAGGCTCACAATGAAATGTCCCCGACTCAGTTCCGACAACCCAACATTTCAGGAGCTTGAAGCTTTAAAGGGCGTCGTGACCCGGGCACAGCCGCGGGGCTTGTATTTTGCAGGTTCAGAAAGTTGAAACTGGGCGTTTCCCAGGCAAACAGCTGCCGCTCGCGGGGGGAGGTAGGGGTCGAGGGGGTAAGGACCAGCCAAAGCCGGGCAGTGGCGGAGCTTGGCGCACTGGTCGCAGCCCCAGGCTGCGGCAGGAGGCGAGGGCACAGGGACTGCAGCCCGCCAGGAGCGGGTGGGCGGGGAAAGAGGAACGCAAAGGAGCTAAAGGACCGCGGTTTTAGATTCAAAGCACGTCCTGAGACCGCAAGACAATCGCTCTCCTCCCCTCCCCCGGCAGCTCGACTCCGGTTCAAGCGAGTACAATTAATCCTCCTGGTGTCCCAGCCCCTCGCGCGGAGCGCCGCGCACAGCCTCGCGGACACACCCTCGTCTTCTCCAGGCACGCGTGCCTGCCAAGCAGCCAGCGCGGAGGGAGGCCGAGGGGGTGACGGGGACTCCAAATGAGTTACAGCAGAAAGAAAGAGAGGTGCCCCCTCCGTCCGCGAAAGTCACCTCCTAGCCCAGGCCACACTCGGCGGCAC
CCTTTGCTTATAACTCACACTCTTTTTCTCTTCTCAAAATGAGAAACTAGCTCAGATTAAAGCAGAGTATCAGCAGTATTTTGACAAGGTATAATTTATCCCATAGGAACATCTTAACTGAAAATCCATTATTGAAATCCTATAGCTTCTTTAGTGGTTGAGTTCAAGTCCAGAGTCAGACTTGGGTTCAAATCCCAAATCCTATTTCTGCATGGAAAAAAAAATGCAATAGGCTGAAAATTATTCTGGATTGCCTACTTAAAGTAAAATTCCCCAACAATGCAGAATTTATAATTCCATCTAAACTCAAATGATGTTAAAAATAAGTACAAATAGTTTGTAATATAGTATAAATATGATTGCCTGGAGAAAAAGTTGCTTGAGAATTGAGAATGAGCCTATTCACTGTTTATAACTCTATAGCTATTCCTAAGTGCAGGTGATATAACTTAAAAAGGCACATGCCTTTGACAAAAAATTCCATTTGTGGAAATTTACAGGATAACTATTCTCATATGCACACTAATAAATGAACAAAATTATTCATTGTGACACTATGCTGTAAGTATAAACCTTAATGACCATTGGTAGGGAATTGGCTAAATAAAACATAGCACAACTATATAATGGACGCTACATATCCATTTAAAGGAGGGAAGCTCTCTGTAGGTTCAAGATACACTGTTTAGTGAAGAAGGCTGCAGAATTGTGTTAGTATCACATCATGTGTGTGAAGAAAGAGAAAAAGGAAATATCCTACATGGGTTTGAAAATATATGGAGTATTTCTGCAAGGAAGTAAGAAAGATAACCGTGATTAGGATGGTTTCCCTCCAGGGAGGAAACTGCATCAAGGAACACAGGAAAAAGACACACTCACTTTCCACTCTTCAGAATTTTGTGCTGTGAGTATGTAGGAACTATTCCAAAAATGCTTTTTTTTTTTTTGTAAAGGAGATAAAAGCATAGTAGGAATTGCACATGAAGACACACACTGTGCTTTCAAGTAGACATTTTTTCAACTAATATTTATTAAAGGTATTTTAAAACTCAGGTTGATCTCTCATCTTAACTGTGATTGGTTCAATTTTACCATACCGAAAGAATAAATTCATTTGAGCTTTTACCTACGCCTTTGCTTTTTGTTAAAGGAAGAATTCAATGCAATGTGTTCAGAAAGTTACATTTAAATCGTTAATAAAGAGAAAAAGGAAGAGAAAGAGAGGACACCATTCCGACACAAACGTTTATGTGATTTTAGCCATTACAACAGTAATTCAGAAATATCTCAAATGTTACATTGATGTCATCAATATTACAAAAAAGGAAAAAAAAAGTGACAGGCAACAGTGAAGAGCACCAGAGACCCAGCGCACACCTAAAGTAGACCATGCTTCTTTCCTTCCACTGCCAGGTTATCGTCCCGGGAAGCCCCCCACCCCCTCGCTTTCCTCCTCCGCTTTCCCTAACCCGTCTCGCGGGGGCATCTACGCCTCGTCCTCGCCCTCCTCCTCCTCGAACTCCCCTTGTTCGTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCGGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAGGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTGGCCGACATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGTTCTGCACGTTGAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAAGATGGCAGCCACCGTCAGGTAGCGGCCGTGGCGCGGGTCGCAGGCGGCCATCATGTTCTTGGAGTCGAACATCTGCTGGGTGAGCTCGGGCACCGTGAGCGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGCGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGGAAGAGCACCATGTTCACCGCCAGCTTGCGCAGGTCTGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTCAGGGTGCGGAAGCAGATGTCATACAGGGCCTCGTTGTCAATGCAGTAGGTTTCATCTGTGTTTTCCACCAGCTGGTGGACCGAGAGGGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACCTTGGGTGAGGGCATGACGCTGAAGGTGTTCATGATGCGGTCTGGGTACTCTTCCCGGATCTTGCTGATGAGCAGGGTGCCCATCCCGGACCCCGTGCCGCCCCCCAGAGAGTGGGTCAGCTGGAAGCCCTGGAGACAGTCACAGCTCTCTGACTCCTTCCTCACCACATCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTGGCCCTTGGCCCAGTTATTCCCGGCTCCACTCTGGCCTGCCAGAGGGAAAGAGAAATCTTAAGTCACCGGTGATTGTACTAAATACCTTACCTCAAACCCCTCAATATAGATCAGTGAGTCAATGCTCAGATAAGACTATTTCAGATTATCACCAAAATGGCCAAACGTTAAAATATTTGTTCATGAATATAATTATAAATAAGGAAGGCCAGGACACCAAGCTCTTAGCAGCTGAAAGGCAAACAATTTTACACTATATTAAAGCTAAGTTGGCACACCGCGGATGTTCTTCATGCTTTCCCTCTGGCAATCACACCTCTTCAGCCTCCACTGCCCAGCGTAAAATGAATCCCTCATGCTCTCAGCCACACCAGGCACTCACCAAACACGAAATTGTCTGGTCTGAAGATCTGGCCGAATGGTCCAGACCTAACCGAATCCATCGTGCCTGGCTCCAGATCCACGAGGATGGCCCGAGGAACATATTTGTTACCTGCAAGGAACAACAGTGACTTAGACCCTCAGGCAAGGACCTCTGCAGAGAAGGGCTTGGCGCCTGCTGCCATCATGCAGATGTTGCCCCAAACAAAGGGAGACCCACCATCAGGTTCTCAAAGGGCTCTGTTGGCATAAGGAAGCCCAATGAAATACTGCAGGGAAAGAGCGGGGATCCTAAACTGAATAGTCCACCCTCTCCCAGGGCCACACCCCTGGGGTCCCACGCAAGGGAAAGGGGAGAAGGTGGAAAAACTGAAGGGAGTGGGGGTGGGGCAAGGGTGATTACCAGTGGCTTCATTGTAGTAAACATTGATTCTCTCCAGCTGCAAATCACTGTCTCCATGGTAACTGCCAGTGGGGTCAATCCCATGCTCATCACTGATGACCTCCCAAAACTGAGACAGAAAGGCTGCATTTAGCCATGAACGATGCCCCCAGAAACGCCAAGGCTCACAATGAAATGTCCCCGACTCAGTTCCGACAACCCAACATTTCAGGAGCTTGAAGCTTTAAAGGGCGTCGTGACCCGGGCACAGCCGCGGGGCTTGTATTTTGCAGGTTCAGAAAGTTGAAACTGGGCGTTTCCCAGGCAAACAGCTGCCGCTCGCGGGGGGAGGTAGGGGTCGAGGGGGTAAGGACCAGCCAAAGCCGGGCAGTGGCGGAGCTTGGCGCACTGGTCGCAGCCCCAGGCTGCGGCAGGAGGCGAGGGCACAGGGACTGCAGCCCGCCAGGAGCGGGTGGGCGGGGAAAGAGGAACGCAAAGGAGCTAAAGGACCGCGGTTTTAGATTCAAAGCACGTCCTGAGACCGCAAGACAATCGCTCTCCTCCCCTCCCCCGGCAGCTCGACTCCGGTTCAAGCGAGTACAATTAATCCTCCTGGTGTCCCAGCCCCTCGCGCGGAGCGCCGCGCACAGCCTCGCGGACACACCCTCGTCTTCTCCAGGCACGCGTGCCTGCCAAGCAGCCAGCGCGGAGGGAGGCCGAGGGGGTGACGGGGACTCCAAATGAGTTACAGCAGAAAGAAAGAGAGGTGCCCCCTCCGTCCGCGAAAGTCACCTCCTAGCCCAGGCCACACTCGGCGGCAC
Task1_train_9968
A variant on Chromosome 6 in gene TUBB2B (tubulin beta 2B class IIb) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Congenital bilateral perisylvian syndrome
CCTTTGCTTATAACTCACACTCTTTTTCTCTTCTCAAAATGAGAAACTAGCTCAGATTAAAGCAGAGTATCAGCAGTATTTTGACAAGGTATAATTTATCCCATAGGAACATCTTAACTGAAAATCCATTATTGAAATCCTATAGCTTCTTTAGTGGTTGAGTTCAAGTCCAGAGTCAGACTTGGGTTCAAATCCCAAATCCTATTTCTGCATGGAAAAAAAAATGCAATAGGCTGAAAATTATTCTGGATTGCCTACTTAAAGTAAAATTCCCCAACAATGCAGAATTTATAATTCCATCTAAACTCAAATGATGTTAAAAATAAGTACAAATAGTTTGTAATATAGTATAAATATGATTGCCTGGAGAAAAAGTTGCTTGAGAATTGAGAATGAGCCTATTCACTGTTTATAACTCTATAGCTATTCCTAAGTGCAGGTGATATAACTTAAAAAGGCACATGCCTTTGACAAAAAATTCCATTTGTGGAAATTTACAGGATAACTATTCTCATATGCACACTAATAAATGAACAAAATTATTCATTGTGACACTATGCTGTAAGTATAAACCTTAATGACCATTGGTAGGGAATTGGCTAAATAAAACATAGCACAACTATATAATGGACGCTACATATCCATTTAAAGGAGGGAAGCTCTCTGTAGGTTCAAGATACACTGTTTAGTGAAGAAGGCTGCAGAATTGTGTTAGTATCACATCATGTGTGTGAAGAAAGAGAAAAAGGAAATATCCTACATGGGTTTGAAAATATATGGAGTATTTCTGCAAGGAAGTAAGAAAGATAACCGTGATTAGGATGGTTTCCCTCCAGGGAGGAAACTGCATCAAGGAACACAGGAAAAAGACACACTCACTTTCCACTCTTCAGAATTTTGTGCTGTGAGTATGTAGGAACTATTCCAAAAATGCTTTTTTTTTTTTTGTAAAGGAGATAAAAGCATAGTAGGAATTGCACATGAAGACACACACTGTGCTTTCAAGTAGACATTTTTTCAACTAATATTTATTAAAGGTATTTTAAAACTCAGGTTGATCTCTCATCTTAACTGTGATTGGTTCAATTTTACCATACCGAAAGAATAAATTCATTTGAGCTTTTACCTACGCCTTTGCTTTTTGTTAAAGGAAGAATTCAATGCAATGTGTTCAGAAAGTTACATTTAAATCGTTAATAAAGAGAAAAAGGAAGAGAAAGAGAGGACACCATTCCGACACAAACGTTTATGTGATTTTAGCCATTACAACAGTAATTCAGAAATATCTCAAATGTTACATTGATGTCATCAATATTACAAAAAAGGAAAAAAAAAGTGACAGGCAACAGTGAAGAGCACCAGAGACCCAGCGCACACCTAAAGTAGACCATGCTTCTTTCCTTCCACTGCCAGGTTATCGTCCCGGGAAGCCCCCCACCCCCTCGCTTTCCTCCTCCGCTTTCCCTAACCCGTCTCGCGGGGGCATCTACGCCTCGTCCTCGCCCTCCTCCTCCTCGAACTCCCCTTGTTCGTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCGGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAGGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTGGCCGACATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGTTCTGCACGTTGAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAAGATGGCAGCCACCGTCAGGTAGCGGCCGTGGCGCGGGTCGCAGGCGGCCATCATGTTCTTGGAGTCGAACATCTGCTGGGTGAGCTCGGGCACCGTGAGCGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGCGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGGAAGGGCACCATGTTCACCGCCAGCTTGCGCAGGTCTGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTCAGGGTGCGGAAGCAGATGTCATACAGGGCCTCGTTGTCAATGCAGTAGGTTTCATCTGTGTTTTCCACCAGCTGGTGGACCGAGAGGGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACCTTGGGTGAGGGCATGACGCTGAAGGTGTTCATGATGCGGTCTGGGTACTCTTCCCGGATCTTGCTGATGAGCAGGGTGCCCATCCCGGACCCCGTGCCGCCCCCCAGAGAGTGGGTCAGCTGGAAGCCCTGGAGACAGTCACAGCTCTCTGACTCCTTCCTCACCACATCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTGGCCCTTGGCCCAGTTATTCCCGGCTCCACTCTGGCCTGCCAGAGGGAAAGAGAAATCTTAAGTCACCGGTGATTGTACTAAATACCTTACCTCAAACCCCTCAATATAGATCAGTGAGTCAATGCTCAGATAAGACTATTTCAGATTATCACCAAAATGGCCAAACGTTAAAATATTTGTTCATGAATATAATTATAAATAAGGAAGGCCAGGACACCAAGCTCTTAGCAGCTGAAAGGCAAACAATTTTACACTATATTAAAGCTAAGTTGGCACACCGCGGATGTTCTTCATGCTTTCCCTCTGGCAATCACACCTCTTCAGCCTCCACTGCCCAGCGTAAAATGAATCCCTCATGCTCTCAGCCACACCAGGCACTCACCAAACACGAAATTGTCTGGTCTGAAGATCTGGCCGAATGGTCCAGACCTAACCGAATCCATCGTGCCTGGCTCCAGATCCACGAGGATGGCCCGAGGAACATATTTGTTACCTGCAAGGAACAACAGTGACTTAGACCCTCAGGCAAGGACCTCTGCAGAGAAGGGCTTGGCGCCTGCTGCCATCATGCAGATGTTGCCCCAAACAAAGGGAGACCCACCATCAGGTTCTCAAAGGGCTCTGTTGGCATAAGGAAGCCCAATGAAATACTGCAGGGAAAGAGCGGGGATCCTAAACTGAATAGTCCACCCTCTCCCAGGGCCACACCCCTGGGGTCCCACGCAAGGGAAAGGGGAGAAGGTGGAAAAACTGAAGGGAGTGGGGGTGGGGCAAGGGTGATTACCAGTGGCTTCATTGTAGTAAACATTGATTCTCTCCAGCTGCAAATCACTGTCTCCATGGTAACTGCCAGTGGGGTCAATCCCATGCTCATCACTGATGACCTCCCAAAACTGAGACAGAAAGGCTGCATTTAGCCATGAACGATGCCCCCAGAAACGCCAAGGCTCACAATGAAATGTCCCCGACTCAGTTCCGACAACCCAACATTTCAGGAGCTTGAAGCTTTAAAGGGCGTCGTGACCCGGGCACAGCCGCGGGGCTTGTATTTTGCAGGTTCAGAAAGTTGAAACTGGGCGTTTCCCAGGCAAACAGCTGCCGCTCGCGGGGGGAGGTAGGGGTCGAGGGGGTAAGGACCAGCCAAAGCCGGGCAGTGGCGGAGCTTGGCGCACTGGTCGCAGCCCCAGGCTGCGGCAGGAGGCGAGGGCACAGGGACTGCAGCCCGCCAGGAGCGGGTGGGCGGGGAAAGAGGAACGCAAAGGAGCTAAAGGACCGCGGTTTTAGATTCAAAGCACGTCCTGAGACCGCAAGACAATCGCTCTCCTCCCCTCCCCCGGCAGCTCGACTCCGGTTCAAGCGAGTACAATTAATCCTCCTGGTGTCCCAGCCCCTCGCGCGGAGCGCCGCGCACAGCCTCGCGGACACACCCTCGTCTTCTCCAGGCACGCGTGCCTGCCAAGCAGCCAGCGCGGAGGGAGGCCGAGGGGGTGACGGGGACTCCAAATGAGTTACAGCAGAAAGAAAGAGAGGTGCCCCCTCCGTCCGCGAAAGTCACCTCCTAGCCCAGGCCACACTCGGCGGCAC
CCTTTGCTTATAACTCACACTCTTTTTCTCTTCTCAAAATGAGAAACTAGCTCAGATTAAAGCAGAGTATCAGCAGTATTTTGACAAGGTATAATTTATCCCATAGGAACATCTTAACTGAAAATCCATTATTGAAATCCTATAGCTTCTTTAGTGGTTGAGTTCAAGTCCAGAGTCAGACTTGGGTTCAAATCCCAAATCCTATTTCTGCATGGAAAAAAAAATGCAATAGGCTGAAAATTATTCTGGATTGCCTACTTAAAGTAAAATTCCCCAACAATGCAGAATTTATAATTCCATCTAAACTCAAATGATGTTAAAAATAAGTACAAATAGTTTGTAATATAGTATAAATATGATTGCCTGGAGAAAAAGTTGCTTGAGAATTGAGAATGAGCCTATTCACTGTTTATAACTCTATAGCTATTCCTAAGTGCAGGTGATATAACTTAAAAAGGCACATGCCTTTGACAAAAAATTCCATTTGTGGAAATTTACAGGATAACTATTCTCATATGCACACTAATAAATGAACAAAATTATTCATTGTGACACTATGCTGTAAGTATAAACCTTAATGACCATTGGTAGGGAATTGGCTAAATAAAACATAGCACAACTATATAATGGACGCTACATATCCATTTAAAGGAGGGAAGCTCTCTGTAGGTTCAAGATACACTGTTTAGTGAAGAAGGCTGCAGAATTGTGTTAGTATCACATCATGTGTGTGAAGAAAGAGAAAAAGGAAATATCCTACATGGGTTTGAAAATATATGGAGTATTTCTGCAAGGAAGTAAGAAAGATAACCGTGATTAGGATGGTTTCCCTCCAGGGAGGAAACTGCATCAAGGAACACAGGAAAAAGACACACTCACTTTCCACTCTTCAGAATTTTGTGCTGTGAGTATGTAGGAACTATTCCAAAAATGCTTTTTTTTTTTTTGTAAAGGAGATAAAAGCATAGTAGGAATTGCACATGAAGACACACACTGTGCTTTCAAGTAGACATTTTTTCAACTAATATTTATTAAAGGTATTTTAAAACTCAGGTTGATCTCTCATCTTAACTGTGATTGGTTCAATTTTACCATACCGAAAGAATAAATTCATTTGAGCTTTTACCTACGCCTTTGCTTTTTGTTAAAGGAAGAATTCAATGCAATGTGTTCAGAAAGTTACATTTAAATCGTTAATAAAGAGAAAAAGGAAGAGAAAGAGAGGACACCATTCCGACACAAACGTTTATGTGATTTTAGCCATTACAACAGTAATTCAGAAATATCTCAAATGTTACATTGATGTCATCAATATTACAAAAAAGGAAAAAAAAAGTGACAGGCAACAGTGAAGAGCACCAGAGACCCAGCGCACACCTAAAGTAGACCATGCTTCTTTCCTTCCACTGCCAGGTTATCGTCCCGGGAAGCCCCCCACCCCCTCGCTTTCCTCCTCCGCTTTCCCTAACCCGTCTCGCGGGGGCATCTACGCCTCGTCCTCGCCCTCCTCCTCCTCGAACTCCCCTTGTTCGTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCGGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAGGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTGGCCGACATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGTTCTGCACGTTGAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAAGATGGCAGCCACCGTCAGGTAGCGGCCGTGGCGCGGGTCGCAGGCGGCCATCATGTTCTTGGAGTCGAACATCTGCTGGGTGAGCTCGGGCACCGTGAGCGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGCGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGGAAGAGCACCATGTTCACCGCCAGCTTGCGCAGGTCTGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTCAGGGTGCGGAAGCAGATGTCATACAGGGCCTCGTTGTCAATGCAGTAGGTTTCATCTGTGTTTTCCACCAGCTGGTGGACCGAGAGGGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACCTTGGGTGAGGGCATGACGCTGAAGGTGTTCATGATGCGGTCTGGGTACTCTTCCCGGATCTTGCTGATGAGCAGGGTGCCCATCCCGGACCCCGTGCCGCCCCCCAGAGAGTGGGTCAGCTGGAAGCCCTGGAGACAGTCACAGCTCTCTGACTCCTTCCTCACCACATCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTGGCCCTTGGCCCAGTTATTCCCGGCTCCACTCTGGCCTGCCAGAGGGAAAGAGAAATCTTAAGTCACCGGTGATTGTACTAAATACCTTACCTCAAACCCCTCAATATAGATCAGTGAGTCAATGCTCAGATAAGACTATTTCAGATTATCACCAAAATGGCCAAACGTTAAAATATTTGTTCATGAATATAATTATAAATAAGGAAGGCCAGGACACCAAGCTCTTAGCAGCTGAAAGGCAAACAATTTTACACTATATTAAAGCTAAGTTGGCACACCGCGGATGTTCTTCATGCTTTCCCTCTGGCAATCACACCTCTTCAGCCTCCACTGCCCAGCGTAAAATGAATCCCTCATGCTCTCAGCCACACCAGGCACTCACCAAACACGAAATTGTCTGGTCTGAAGATCTGGCCGAATGGTCCAGACCTAACCGAATCCATCGTGCCTGGCTCCAGATCCACGAGGATGGCCCGAGGAACATATTTGTTACCTGCAAGGAACAACAGTGACTTAGACCCTCAGGCAAGGACCTCTGCAGAGAAGGGCTTGGCGCCTGCTGCCATCATGCAGATGTTGCCCCAAACAAAGGGAGACCCACCATCAGGTTCTCAAAGGGCTCTGTTGGCATAAGGAAGCCCAATGAAATACTGCAGGGAAAGAGCGGGGATCCTAAACTGAATAGTCCACCCTCTCCCAGGGCCACACCCCTGGGGTCCCACGCAAGGGAAAGGGGAGAAGGTGGAAAAACTGAAGGGAGTGGGGGTGGGGCAAGGGTGATTACCAGTGGCTTCATTGTAGTAAACATTGATTCTCTCCAGCTGCAAATCACTGTCTCCATGGTAACTGCCAGTGGGGTCAATCCCATGCTCATCACTGATGACCTCCCAAAACTGAGACAGAAAGGCTGCATTTAGCCATGAACGATGCCCCCAGAAACGCCAAGGCTCACAATGAAATGTCCCCGACTCAGTTCCGACAACCCAACATTTCAGGAGCTTGAAGCTTTAAAGGGCGTCGTGACCCGGGCACAGCCGCGGGGCTTGTATTTTGCAGGTTCAGAAAGTTGAAACTGGGCGTTTCCCAGGCAAACAGCTGCCGCTCGCGGGGGGAGGTAGGGGTCGAGGGGGTAAGGACCAGCCAAAGCCGGGCAGTGGCGGAGCTTGGCGCACTGGTCGCAGCCCCAGGCTGCGGCAGGAGGCGAGGGCACAGGGACTGCAGCCCGCCAGGAGCGGGTGGGCGGGGAAAGAGGAACGCAAAGGAGCTAAAGGACCGCGGTTTTAGATTCAAAGCACGTCCTGAGACCGCAAGACAATCGCTCTCCTCCCCTCCCCCGGCAGCTCGACTCCGGTTCAAGCGAGTACAATTAATCCTCCTGGTGTCCCAGCCCCTCGCGCGGAGCGCCGCGCACAGCCTCGCGGACACACCCTCGTCTTCTCCAGGCACGCGTGCCTGCCAAGCAGCCAGCGCGGAGGGAGGCCGAGGGGGTGACGGGGACTCCAAATGAGTTACAGCAGAAAGAAAGAGAGGTGCCCCCTCCGTCCGCGAAAGTCACCTCCTAGCCCAGGCCACACTCGGCGGCAC
Task1_train_9969
A variant was discovered in gene TUBB2B (tubulin beta 2B class IIb), Chromosome 6. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; not provided
CTAGCTCAGATTAAAGCAGAGTATCAGCAGTATTTTGACAAGGTATAATTTATCCCATAGGAACATCTTAACTGAAAATCCATTATTGAAATCCTATAGCTTCTTTAGTGGTTGAGTTCAAGTCCAGAGTCAGACTTGGGTTCAAATCCCAAATCCTATTTCTGCATGGAAAAAAAAATGCAATAGGCTGAAAATTATTCTGGATTGCCTACTTAAAGTAAAATTCCCCAACAATGCAGAATTTATAATTCCATCTAAACTCAAATGATGTTAAAAATAAGTACAAATAGTTTGTAATATAGTATAAATATGATTGCCTGGAGAAAAAGTTGCTTGAGAATTGAGAATGAGCCTATTCACTGTTTATAACTCTATAGCTATTCCTAAGTGCAGGTGATATAACTTAAAAAGGCACATGCCTTTGACAAAAAATTCCATTTGTGGAAATTTACAGGATAACTATTCTCATATGCACACTAATAAATGAACAAAATTATTCATTGTGACACTATGCTGTAAGTATAAACCTTAATGACCATTGGTAGGGAATTGGCTAAATAAAACATAGCACAACTATATAATGGACGCTACATATCCATTTAAAGGAGGGAAGCTCTCTGTAGGTTCAAGATACACTGTTTAGTGAAGAAGGCTGCAGAATTGTGTTAGTATCACATCATGTGTGTGAAGAAAGAGAAAAAGGAAATATCCTACATGGGTTTGAAAATATATGGAGTATTTCTGCAAGGAAGTAAGAAAGATAACCGTGATTAGGATGGTTTCCCTCCAGGGAGGAAACTGCATCAAGGAACACAGGAAAAAGACACACTCACTTTCCACTCTTCAGAATTTTGTGCTGTGAGTATGTAGGAACTATTCCAAAAATGCTTTTTTTTTTTTTGTAAAGGAGATAAAAGCATAGTAGGAATTGCACATGAAGACACACACTGTGCTTTCAAGTAGACATTTTTTCAACTAATATTTATTAAAGGTATTTTAAAACTCAGGTTGATCTCTCATCTTAACTGTGATTGGTTCAATTTTACCATACCGAAAGAATAAATTCATTTGAGCTTTTACCTACGCCTTTGCTTTTTGTTAAAGGAAGAATTCAATGCAATGTGTTCAGAAAGTTACATTTAAATCGTTAATAAAGAGAAAAAGGAAGAGAAAGAGAGGACACCATTCCGACACAAACGTTTATGTGATTTTAGCCATTACAACAGTAATTCAGAAATATCTCAAATGTTACATTGATGTCATCAATATTACAAAAAAGGAAAAAAAAAGTGACAGGCAACAGTGAAGAGCACCAGAGACCCAGCGCACACCTAAAGTAGACCATGCTTCTTTCCTTCCACTGCCAGGTTATCGTCCCGGGAAGCCCCCCACCCCCTCGCTTTCCTCCTCCGCTTTCCCTAACCCGTCTCGCGGGGGCATCTACGCCTCGTCCTCGCCCTCCTCCTCCTCGAACTCCCCTTGTTCGTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCGGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAGGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTGGCCGACATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGTTCTGCACGTTGAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAAGATGGCAGCCACCGTCAGGTAGCGGCCGTGGCGCGGGTCGCAGGCGGCCATCATGTTCTTGGAGTCGAACATCTGCTGGGTGAGCTCGGGCACCGTGAGCGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGCGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGGAAGGGCACCATGTTCACCGCCAGCTTGCGCAGGTCTGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTCAGGGTGCGGAAGCAGATGTCATACAGGGCCTCGTTGTCAATGCAGTAGGTTTCATCTGTGTTTTCCACCAGCTGGTGGACCGAGAGGGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACCTTGGGTGAGGGCATGACGCTGAAGGTGTTCATGATGCGGTCTGGGTACTCTTCCCGGATCTTGCTGATGAGCAGGGTGCCCATCCCGGACCCCGTGCCGCCCCCCAGAGAGTGGGTCAGCTGGAAGCCCTGGAGACAGTCACAGCTCTCTGACTCCTTCCTCACCACATCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTGGCCCTTGGCCCAGTTATTCCCGGCTCCACTCTGGCCTGCCAGAGGGAAAGAGAAATCTTAAGTCACCGGTGATTGTACTAAATACCTTACCTCAAACCCCTCAATATAGATCAGTGAGTCAATGCTCAGATAAGACTATTTCAGATTATCACCAAAATGGCCAAACGTTAAAATATTTGTTCATGAATATAATTATAAATAAGGAAGGCCAGGACACCAAGCTCTTAGCAGCTGAAAGGCAAACAATTTTACACTATATTAAAGCTAAGTTGGCACACCGCGGATGTTCTTCATGCTTTCCCTCTGGCAATCACACCTCTTCAGCCTCCACTGCCCAGCGTAAAATGAATCCCTCATGCTCTCAGCCACACCAGGCACTCACCAAACACGAAATTGTCTGGTCTGAAGATCTGGCCGAATGGTCCAGACCTAACCGAATCCATCGTGCCTGGCTCCAGATCCACGAGGATGGCCCGAGGAACATATTTGTTACCTGCAAGGAACAACAGTGACTTAGACCCTCAGGCAAGGACCTCTGCAGAGAAGGGCTTGGCGCCTGCTGCCATCATGCAGATGTTGCCCCAAACAAAGGGAGACCCACCATCAGGTTCTCAAAGGGCTCTGTTGGCATAAGGAAGCCCAATGAAATACTGCAGGGAAAGAGCGGGGATCCTAAACTGAATAGTCCACCCTCTCCCAGGGCCACACCCCTGGGGTCCCACGCAAGGGAAAGGGGAGAAGGTGGAAAAACTGAAGGGAGTGGGGGTGGGGCAAGGGTGATTACCAGTGGCTTCATTGTAGTAAACATTGATTCTCTCCAGCTGCAAATCACTGTCTCCATGGTAACTGCCAGTGGGGTCAATCCCATGCTCATCACTGATGACCTCCCAAAACTGAGACAGAAAGGCTGCATTTAGCCATGAACGATGCCCCCAGAAACGCCAAGGCTCACAATGAAATGTCCCCGACTCAGTTCCGACAACCCAACATTTCAGGAGCTTGAAGCTTTAAAGGGCGTCGTGACCCGGGCACAGCCGCGGGGCTTGTATTTTGCAGGTTCAGAAAGTTGAAACTGGGCGTTTCCCAGGCAAACAGCTGCCGCTCGCGGGGGGAGGTAGGGGTCGAGGGGGTAAGGACCAGCCAAAGCCGGGCAGTGGCGGAGCTTGGCGCACTGGTCGCAGCCCCAGGCTGCGGCAGGAGGCGAGGGCACAGGGACTGCAGCCCGCCAGGAGCGGGTGGGCGGGGAAAGAGGAACGCAAAGGAGCTAAAGGACCGCGGTTTTAGATTCAAAGCACGTCCTGAGACCGCAAGACAATCGCTCTCCTCCCCTCCCCCGGCAGCTCGACTCCGGTTCAAGCGAGTACAATTAATCCTCCTGGTGTCCCAGCCCCTCGCGCGGAGCGCCGCGCACAGCCTCGCGGACACACCCTCGTCTTCTCCAGGCACGCGTGCCTGCCAAGCAGCCAGCGCGGAGGGAGGCCGAGGGGGTGACGGGGACTCCAAATGAGTTACAGCAGAAAGAAAGAGAGGTGCCCCCTCCGTCCGCGAAAGTCACCTCCTAGCCCAGGCCACACTCGGCGGCACAAAGCGGCCAGGAAGGTCTGCATTTGGCGATCCCCAGGCCTTCCCA
CTAGCTCAGATTAAAGCAGAGTATCAGCAGTATTTTGACAAGGTATAATTTATCCCATAGGAACATCTTAACTGAAAATCCATTATTGAAATCCTATAGCTTCTTTAGTGGTTGAGTTCAAGTCCAGAGTCAGACTTGGGTTCAAATCCCAAATCCTATTTCTGCATGGAAAAAAAAATGCAATAGGCTGAAAATTATTCTGGATTGCCTACTTAAAGTAAAATTCCCCAACAATGCAGAATTTATAATTCCATCTAAACTCAAATGATGTTAAAAATAAGTACAAATAGTTTGTAATATAGTATAAATATGATTGCCTGGAGAAAAAGTTGCTTGAGAATTGAGAATGAGCCTATTCACTGTTTATAACTCTATAGCTATTCCTAAGTGCAGGTGATATAACTTAAAAAGGCACATGCCTTTGACAAAAAATTCCATTTGTGGAAATTTACAGGATAACTATTCTCATATGCACACTAATAAATGAACAAAATTATTCATTGTGACACTATGCTGTAAGTATAAACCTTAATGACCATTGGTAGGGAATTGGCTAAATAAAACATAGCACAACTATATAATGGACGCTACATATCCATTTAAAGGAGGGAAGCTCTCTGTAGGTTCAAGATACACTGTTTAGTGAAGAAGGCTGCAGAATTGTGTTAGTATCACATCATGTGTGTGAAGAAAGAGAAAAAGGAAATATCCTACATGGGTTTGAAAATATATGGAGTATTTCTGCAAGGAAGTAAGAAAGATAACCGTGATTAGGATGGTTTCCCTCCAGGGAGGAAACTGCATCAAGGAACACAGGAAAAAGACACACTCACTTTCCACTCTTCAGAATTTTGTGCTGTGAGTATGTAGGAACTATTCCAAAAATGCTTTTTTTTTTTTTGTAAAGGAGATAAAAGCATAGTAGGAATTGCACATGAAGACACACACTGTGCTTTCAAGTAGACATTTTTTCAACTAATATTTATTAAAGGTATTTTAAAACTCAGGTTGATCTCTCATCTTAACTGTGATTGGTTCAATTTTACCATACCGAAAGAATAAATTCATTTGAGCTTTTACCTACGCCTTTGCTTTTTGTTAAAGGAAGAATTCAATGCAATGTGTTCAGAAAGTTACATTTAAATCGTTAATAAAGAGAAAAAGGAAGAGAAAGAGAGGACACCATTCCGACACAAACGTTTATGTGATTTTAGCCATTACAACAGTAATTCAGAAATATCTCAAATGTTACATTGATGTCATCAATATTACAAAAAAGGAAAAAAAAAGTGACAGGCAACAGTGAAGAGCACCAGAGACCCAGCGCACACCTAAAGTAGACCATGCTTCTTTCCTTCCACTGCCAGGTTATCGTCCCGGGAAGCCCCCCACCCCCTCGCTTTCCTCCTCCGCTTTCCCTAACCCGTCTCGCGGGGGCATCTACGCCTCGTCCTCGCCCTCCTCCTCCTCGAACTCCCCTTGTTCGTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCGGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAGGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTGGCCGACATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGTTCTGCACGTTGAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAAGATGGCAGCCACCGTCAGGTAGCGGCCGTGGCGCGGGTCGCAGGCGGCCATCATGTTCTTGGAGTCGAACATCTGCTGGGTGAGCTCGGGCACCGTGAGCGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGCGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGGAAGGGCACCATGTTCACCGCCAGCTTGCGCAGGTCTGCGTTCAGCTGGCTCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTCAGGGTGCGGAAGCAGATGTCATACAGGGCCTCGTTGTCAATGCAGTAGGTTTCATCTGTGTTTTCCACCAGCTGGTGGACCGAGAGGGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACCTTGGGTGAGGGCATGACGCTGAAGGTGTTCATGATGCGGTCTGGGTACTCTTCCCGGATCTTGCTGATGAGCAGGGTGCCCATCCCGGACCCCGTGCCGCCCCCCAGAGAGTGGGTCAGCTGGAAGCCCTGGAGACAGTCACAGCTCTCTGACTCCTTCCTCACCACATCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTGGCCCTTGGCCCAGTTATTCCCGGCTCCACTCTGGCCTGCCAGAGGGAAAGAGAAATCTTAAGTCACCGGTGATTGTACTAAATACCTTACCTCAAACCCCTCAATATAGATCAGTGAGTCAATGCTCAGATAAGACTATTTCAGATTATCACCAAAATGGCCAAACGTTAAAATATTTGTTCATGAATATAATTATAAATAAGGAAGGCCAGGACACCAAGCTCTTAGCAGCTGAAAGGCAAACAATTTTACACTATATTAAAGCTAAGTTGGCACACCGCGGATGTTCTTCATGCTTTCCCTCTGGCAATCACACCTCTTCAGCCTCCACTGCCCAGCGTAAAATGAATCCCTCATGCTCTCAGCCACACCAGGCACTCACCAAACACGAAATTGTCTGGTCTGAAGATCTGGCCGAATGGTCCAGACCTAACCGAATCCATCGTGCCTGGCTCCAGATCCACGAGGATGGCCCGAGGAACATATTTGTTACCTGCAAGGAACAACAGTGACTTAGACCCTCAGGCAAGGACCTCTGCAGAGAAGGGCTTGGCGCCTGCTGCCATCATGCAGATGTTGCCCCAAACAAAGGGAGACCCACCATCAGGTTCTCAAAGGGCTCTGTTGGCATAAGGAAGCCCAATGAAATACTGCAGGGAAAGAGCGGGGATCCTAAACTGAATAGTCCACCCTCTCCCAGGGCCACACCCCTGGGGTCCCACGCAAGGGAAAGGGGAGAAGGTGGAAAAACTGAAGGGAGTGGGGGTGGGGCAAGGGTGATTACCAGTGGCTTCATTGTAGTAAACATTGATTCTCTCCAGCTGCAAATCACTGTCTCCATGGTAACTGCCAGTGGGGTCAATCCCATGCTCATCACTGATGACCTCCCAAAACTGAGACAGAAAGGCTGCATTTAGCCATGAACGATGCCCCCAGAAACGCCAAGGCTCACAATGAAATGTCCCCGACTCAGTTCCGACAACCCAACATTTCAGGAGCTTGAAGCTTTAAAGGGCGTCGTGACCCGGGCACAGCCGCGGGGCTTGTATTTTGCAGGTTCAGAAAGTTGAAACTGGGCGTTTCCCAGGCAAACAGCTGCCGCTCGCGGGGGGAGGTAGGGGTCGAGGGGGTAAGGACCAGCCAAAGCCGGGCAGTGGCGGAGCTTGGCGCACTGGTCGCAGCCCCAGGCTGCGGCAGGAGGCGAGGGCACAGGGACTGCAGCCCGCCAGGAGCGGGTGGGCGGGGAAAGAGGAACGCAAAGGAGCTAAAGGACCGCGGTTTTAGATTCAAAGCACGTCCTGAGACCGCAAGACAATCGCTCTCCTCCCCTCCCCCGGCAGCTCGACTCCGGTTCAAGCGAGTACAATTAATCCTCCTGGTGTCCCAGCCCCTCGCGCGGAGCGCCGCGCACAGCCTCGCGGACACACCCTCGTCTTCTCCAGGCACGCGTGCCTGCCAAGCAGCCAGCGCGGAGGGAGGCCGAGGGGGTGACGGGGACTCCAAATGAGTTACAGCAGAAAGAAAGAGAGGTGCCCCCTCCGTCCGCGAAAGTCACCTCCTAGCCCAGGCCACACTCGGCGGCACAAAGCGGCCAGGAAGGTCTGCATTTGGCGATCCCCAGGCCTTCCCA
Task1_train_9970
This alteration occurs within gene TUBB2B (tubulin beta 2B class IIb) located on Chromosome 6. Is it associated with a disease or is it a benign variant?
Pathogenic; Complex cortical dysplasia with other brain malformations 7
AGCAGAGTATCAGCAGTATTTTGACAAGGTATAATTTATCCCATAGGAACATCTTAACTGAAAATCCATTATTGAAATCCTATAGCTTCTTTAGTGGTTGAGTTCAAGTCCAGAGTCAGACTTGGGTTCAAATCCCAAATCCTATTTCTGCATGGAAAAAAAAATGCAATAGGCTGAAAATTATTCTGGATTGCCTACTTAAAGTAAAATTCCCCAACAATGCAGAATTTATAATTCCATCTAAACTCAAATGATGTTAAAAATAAGTACAAATAGTTTGTAATATAGTATAAATATGATTGCCTGGAGAAAAAGTTGCTTGAGAATTGAGAATGAGCCTATTCACTGTTTATAACTCTATAGCTATTCCTAAGTGCAGGTGATATAACTTAAAAAGGCACATGCCTTTGACAAAAAATTCCATTTGTGGAAATTTACAGGATAACTATTCTCATATGCACACTAATAAATGAACAAAATTATTCATTGTGACACTATGCTGTAAGTATAAACCTTAATGACCATTGGTAGGGAATTGGCTAAATAAAACATAGCACAACTATATAATGGACGCTACATATCCATTTAAAGGAGGGAAGCTCTCTGTAGGTTCAAGATACACTGTTTAGTGAAGAAGGCTGCAGAATTGTGTTAGTATCACATCATGTGTGTGAAGAAAGAGAAAAAGGAAATATCCTACATGGGTTTGAAAATATATGGAGTATTTCTGCAAGGAAGTAAGAAAGATAACCGTGATTAGGATGGTTTCCCTCCAGGGAGGAAACTGCATCAAGGAACACAGGAAAAAGACACACTCACTTTCCACTCTTCAGAATTTTGTGCTGTGAGTATGTAGGAACTATTCCAAAAATGCTTTTTTTTTTTTTGTAAAGGAGATAAAAGCATAGTAGGAATTGCACATGAAGACACACACTGTGCTTTCAAGTAGACATTTTTTCAACTAATATTTATTAAAGGTATTTTAAAACTCAGGTTGATCTCTCATCTTAACTGTGATTGGTTCAATTTTACCATACCGAAAGAATAAATTCATTTGAGCTTTTACCTACGCCTTTGCTTTTTGTTAAAGGAAGAATTCAATGCAATGTGTTCAGAAAGTTACATTTAAATCGTTAATAAAGAGAAAAAGGAAGAGAAAGAGAGGACACCATTCCGACACAAACGTTTATGTGATTTTAGCCATTACAACAGTAATTCAGAAATATCTCAAATGTTACATTGATGTCATCAATATTACAAAAAAGGAAAAAAAAAGTGACAGGCAACAGTGAAGAGCACCAGAGACCCAGCGCACACCTAAAGTAGACCATGCTTCTTTCCTTCCACTGCCAGGTTATCGTCCCGGGAAGCCCCCCACCCCCTCGCTTTCCTCCTCCGCTTTCCCTAACCCGTCTCGCGGGGGCATCTACGCCTCGTCCTCGCCCTCCTCCTCCTCGAACTCCCCTTGTTCGTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCGGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAGGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTGGCCGACATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGTTCTGCACGTTGAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAAGATGGCAGCCACCGTCAGGTAGCGGCCGTGGCGCGGGTCGCAGGCGGCCATCATGTTCTTGGAGTCGAACATCTGCTGGGTGAGCTCGGGCACCGTGAGCGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGCGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGGAAGGGCACCATGTTCACCGCCAGCTTGCGCAGGTCTGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTCAGGGTGCGGAAGCAGATGTCATACAGGGCCTCGTTGTCAATGCAGTAGGTTTCATCTGTGTTTTCCACCAGCTGGTGGACCGAGAGGGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACCTTGGGTGAGGGCATGACGCTGAAGGTGTTCATGATGCGGTCTGGGTACTCTTCCCGGATCTTGCTGATGAGCAGGGTGCCCATCCCGGACCCCGTGCCGCCCCCCAGAGAGTGGGTCAGCTGGAAGCCCTGGAGACAGTCACAGCTCTCTGACTCCTTCCTCACCACATCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTGGCCCTTGGCCCAGTTATTCCCGGCTCCACTCTGGCCTGCCAGAGGGAAAGAGAAATCTTAAGTCACCGGTGATTGTACTAAATACCTTACCTCAAACCCCTCAATATAGATCAGTGAGTCAATGCTCAGATAAGACTATTTCAGATTATCACCAAAATGGCCAAACGTTAAAATATTTGTTCATGAATATAATTATAAATAAGGAAGGCCAGGACACCAAGCTCTTAGCAGCTGAAAGGCAAACAATTTTACACTATATTAAAGCTAAGTTGGCACACCGCGGATGTTCTTCATGCTTTCCCTCTGGCAATCACACCTCTTCAGCCTCCACTGCCCAGCGTAAAATGAATCCCTCATGCTCTCAGCCACACCAGGCACTCACCAAACACGAAATTGTCTGGTCTGAAGATCTGGCCGAATGGTCCAGACCTAACCGAATCCATCGTGCCTGGCTCCAGATCCACGAGGATGGCCCGAGGAACATATTTGTTACCTGCAAGGAACAACAGTGACTTAGACCCTCAGGCAAGGACCTCTGCAGAGAAGGGCTTGGCGCCTGCTGCCATCATGCAGATGTTGCCCCAAACAAAGGGAGACCCACCATCAGGTTCTCAAAGGGCTCTGTTGGCATAAGGAAGCCCAATGAAATACTGCAGGGAAAGAGCGGGGATCCTAAACTGAATAGTCCACCCTCTCCCAGGGCCACACCCCTGGGGTCCCACGCAAGGGAAAGGGGAGAAGGTGGAAAAACTGAAGGGAGTGGGGGTGGGGCAAGGGTGATTACCAGTGGCTTCATTGTAGTAAACATTGATTCTCTCCAGCTGCAAATCACTGTCTCCATGGTAACTGCCAGTGGGGTCAATCCCATGCTCATCACTGATGACCTCCCAAAACTGAGACAGAAAGGCTGCATTTAGCCATGAACGATGCCCCCAGAAACGCCAAGGCTCACAATGAAATGTCCCCGACTCAGTTCCGACAACCCAACATTTCAGGAGCTTGAAGCTTTAAAGGGCGTCGTGACCCGGGCACAGCCGCGGGGCTTGTATTTTGCAGGTTCAGAAAGTTGAAACTGGGCGTTTCCCAGGCAAACAGCTGCCGCTCGCGGGGGGAGGTAGGGGTCGAGGGGGTAAGGACCAGCCAAAGCCGGGCAGTGGCGGAGCTTGGCGCACTGGTCGCAGCCCCAGGCTGCGGCAGGAGGCGAGGGCACAGGGACTGCAGCCCGCCAGGAGCGGGTGGGCGGGGAAAGAGGAACGCAAAGGAGCTAAAGGACCGCGGTTTTAGATTCAAAGCACGTCCTGAGACCGCAAGACAATCGCTCTCCTCCCCTCCCCCGGCAGCTCGACTCCGGTTCAAGCGAGTACAATTAATCCTCCTGGTGTCCCAGCCCCTCGCGCGGAGCGCCGCGCACAGCCTCGCGGACACACCCTCGTCTTCTCCAGGCACGCGTGCCTGCCAAGCAGCCAGCGCGGAGGGAGGCCGAGGGGGTGACGGGGACTCCAAATGAGTTACAGCAGAAAGAAAGAGAGGTGCCCCCTCCGTCCGCGAAAGTCACCTCCTAGCCCAGGCCACACTCGGCGGCACAAAGCGGCCAGGAAGGTCTGCATTTGGCGATCCCCAGGCCTTCCCAGGACCGCGCCTGGG
AGCAGAGTATCAGCAGTATTTTGACAAGGTATAATTTATCCCATAGGAACATCTTAACTGAAAATCCATTATTGAAATCCTATAGCTTCTTTAGTGGTTGAGTTCAAGTCCAGAGTCAGACTTGGGTTCAAATCCCAAATCCTATTTCTGCATGGAAAAAAAAATGCAATAGGCTGAAAATTATTCTGGATTGCCTACTTAAAGTAAAATTCCCCAACAATGCAGAATTTATAATTCCATCTAAACTCAAATGATGTTAAAAATAAGTACAAATAGTTTGTAATATAGTATAAATATGATTGCCTGGAGAAAAAGTTGCTTGAGAATTGAGAATGAGCCTATTCACTGTTTATAACTCTATAGCTATTCCTAAGTGCAGGTGATATAACTTAAAAAGGCACATGCCTTTGACAAAAAATTCCATTTGTGGAAATTTACAGGATAACTATTCTCATATGCACACTAATAAATGAACAAAATTATTCATTGTGACACTATGCTGTAAGTATAAACCTTAATGACCATTGGTAGGGAATTGGCTAAATAAAACATAGCACAACTATATAATGGACGCTACATATCCATTTAAAGGAGGGAAGCTCTCTGTAGGTTCAAGATACACTGTTTAGTGAAGAAGGCTGCAGAATTGTGTTAGTATCACATCATGTGTGTGAAGAAAGAGAAAAAGGAAATATCCTACATGGGTTTGAAAATATATGGAGTATTTCTGCAAGGAAGTAAGAAAGATAACCGTGATTAGGATGGTTTCCCTCCAGGGAGGAAACTGCATCAAGGAACACAGGAAAAAGACACACTCACTTTCCACTCTTCAGAATTTTGTGCTGTGAGTATGTAGGAACTATTCCAAAAATGCTTTTTTTTTTTTTGTAAAGGAGATAAAAGCATAGTAGGAATTGCACATGAAGACACACACTGTGCTTTCAAGTAGACATTTTTTCAACTAATATTTATTAAAGGTATTTTAAAACTCAGGTTGATCTCTCATCTTAACTGTGATTGGTTCAATTTTACCATACCGAAAGAATAAATTCATTTGAGCTTTTACCTACGCCTTTGCTTTTTGTTAAAGGAAGAATTCAATGCAATGTGTTCAGAAAGTTACATTTAAATCGTTAATAAAGAGAAAAAGGAAGAGAAAGAGAGGACACCATTCCGACACAAACGTTTATGTGATTTTAGCCATTACAACAGTAATTCAGAAATATCTCAAATGTTACATTGATGTCATCAATATTACAAAAAAGGAAAAAAAAAGTGACAGGCAACAGTGAAGAGCACCAGAGACCCAGCGCACACCTAAAGTAGACCATGCTTCTTTCCTTCCACTGCCAGGTTATCGTCCCGGGAAGCCCCCCACCCCCTCGCTTTCCTCCTCCGCTTTCCCTAACCCGTCTCGCGGGGGCATCTACGCCTCGTCCTCGCCCTCCTCCTCCTCGAACTCCCCTTGTTCGTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCGGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAGGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTGGCCGACATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGTTCTGCACGTTGAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAAGATGGCAGCCACCGTCAGGTAGCGGCCGTGGCGCGGGTCGCAGGCGGCCATCATGTTCTTGGAGTCGAACATCTGCTGGGTGAGCTCGGGCACCGTGAGCGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGCGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGGAAGGGCACCATGTTCACCGCCAGCTTGCGCAGGTCTGCGTTCAGCTGGCCCGGGAAGCGCAGGAAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTCAGGGTGCGGAAGCAGATGTCATACAGGGCCTCGTTGTCAATGCAGTAGGTTTCATCTGTGTTTTCCACCAGCTGGTGGACCGAGAGGGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACCTTGGGTGAGGGCATGACGCTGAAGGTGTTCATGATGCGGTCTGGGTACTCTTCCCGGATCTTGCTGATGAGCAGGGTGCCCATCCCGGACCCCGTGCCGCCCCCCAGAGAGTGGGTCAGCTGGAAGCCCTGGAGACAGTCACAGCTCTCTGACTCCTTCCTCACCACATCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTGGCCCTTGGCCCAGTTATTCCCGGCTCCACTCTGGCCTGCCAGAGGGAAAGAGAAATCTTAAGTCACCGGTGATTGTACTAAATACCTTACCTCAAACCCCTCAATATAGATCAGTGAGTCAATGCTCAGATAAGACTATTTCAGATTATCACCAAAATGGCCAAACGTTAAAATATTTGTTCATGAATATAATTATAAATAAGGAAGGCCAGGACACCAAGCTCTTAGCAGCTGAAAGGCAAACAATTTTACACTATATTAAAGCTAAGTTGGCACACCGCGGATGTTCTTCATGCTTTCCCTCTGGCAATCACACCTCTTCAGCCTCCACTGCCCAGCGTAAAATGAATCCCTCATGCTCTCAGCCACACCAGGCACTCACCAAACACGAAATTGTCTGGTCTGAAGATCTGGCCGAATGGTCCAGACCTAACCGAATCCATCGTGCCTGGCTCCAGATCCACGAGGATGGCCCGAGGAACATATTTGTTACCTGCAAGGAACAACAGTGACTTAGACCCTCAGGCAAGGACCTCTGCAGAGAAGGGCTTGGCGCCTGCTGCCATCATGCAGATGTTGCCCCAAACAAAGGGAGACCCACCATCAGGTTCTCAAAGGGCTCTGTTGGCATAAGGAAGCCCAATGAAATACTGCAGGGAAAGAGCGGGGATCCTAAACTGAATAGTCCACCCTCTCCCAGGGCCACACCCCTGGGGTCCCACGCAAGGGAAAGGGGAGAAGGTGGAAAAACTGAAGGGAGTGGGGGTGGGGCAAGGGTGATTACCAGTGGCTTCATTGTAGTAAACATTGATTCTCTCCAGCTGCAAATCACTGTCTCCATGGTAACTGCCAGTGGGGTCAATCCCATGCTCATCACTGATGACCTCCCAAAACTGAGACAGAAAGGCTGCATTTAGCCATGAACGATGCCCCCAGAAACGCCAAGGCTCACAATGAAATGTCCCCGACTCAGTTCCGACAACCCAACATTTCAGGAGCTTGAAGCTTTAAAGGGCGTCGTGACCCGGGCACAGCCGCGGGGCTTGTATTTTGCAGGTTCAGAAAGTTGAAACTGGGCGTTTCCCAGGCAAACAGCTGCCGCTCGCGGGGGGAGGTAGGGGTCGAGGGGGTAAGGACCAGCCAAAGCCGGGCAGTGGCGGAGCTTGGCGCACTGGTCGCAGCCCCAGGCTGCGGCAGGAGGCGAGGGCACAGGGACTGCAGCCCGCCAGGAGCGGGTGGGCGGGGAAAGAGGAACGCAAAGGAGCTAAAGGACCGCGGTTTTAGATTCAAAGCACGTCCTGAGACCGCAAGACAATCGCTCTCCTCCCCTCCCCCGGCAGCTCGACTCCGGTTCAAGCGAGTACAATTAATCCTCCTGGTGTCCCAGCCCCTCGCGCGGAGCGCCGCGCACAGCCTCGCGGACACACCCTCGTCTTCTCCAGGCACGCGTGCCTGCCAAGCAGCCAGCGCGGAGGGAGGCCGAGGGGGTGACGGGGACTCCAAATGAGTTACAGCAGAAAGAAAGAGAGGTGCCCCCTCCGTCCGCGAAAGTCACCTCCTAGCCCAGGCCACACTCGGCGGCACAAAGCGGCCAGGAAGGTCTGCATTTGGCGATCCCCAGGCCTTCCCAGGACCGCGCCTGGG
Task1_train_9971
Given a variant located on Chromosome 6 and affecting TUBB2B (tubulin beta 2B class IIb), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Complex cortical dysplasia with other brain malformations 7
ATTTATCCCATAGGAACATCTTAACTGAAAATCCATTATTGAAATCCTATAGCTTCTTTAGTGGTTGAGTTCAAGTCCAGAGTCAGACTTGGGTTCAAATCCCAAATCCTATTTCTGCATGGAAAAAAAAATGCAATAGGCTGAAAATTATTCTGGATTGCCTACTTAAAGTAAAATTCCCCAACAATGCAGAATTTATAATTCCATCTAAACTCAAATGATGTTAAAAATAAGTACAAATAGTTTGTAATATAGTATAAATATGATTGCCTGGAGAAAAAGTTGCTTGAGAATTGAGAATGAGCCTATTCACTGTTTATAACTCTATAGCTATTCCTAAGTGCAGGTGATATAACTTAAAAAGGCACATGCCTTTGACAAAAAATTCCATTTGTGGAAATTTACAGGATAACTATTCTCATATGCACACTAATAAATGAACAAAATTATTCATTGTGACACTATGCTGTAAGTATAAACCTTAATGACCATTGGTAGGGAATTGGCTAAATAAAACATAGCACAACTATATAATGGACGCTACATATCCATTTAAAGGAGGGAAGCTCTCTGTAGGTTCAAGATACACTGTTTAGTGAAGAAGGCTGCAGAATTGTGTTAGTATCACATCATGTGTGTGAAGAAAGAGAAAAAGGAAATATCCTACATGGGTTTGAAAATATATGGAGTATTTCTGCAAGGAAGTAAGAAAGATAACCGTGATTAGGATGGTTTCCCTCCAGGGAGGAAACTGCATCAAGGAACACAGGAAAAAGACACACTCACTTTCCACTCTTCAGAATTTTGTGCTGTGAGTATGTAGGAACTATTCCAAAAATGCTTTTTTTTTTTTTGTAAAGGAGATAAAAGCATAGTAGGAATTGCACATGAAGACACACACTGTGCTTTCAAGTAGACATTTTTTCAACTAATATTTATTAAAGGTATTTTAAAACTCAGGTTGATCTCTCATCTTAACTGTGATTGGTTCAATTTTACCATACCGAAAGAATAAATTCATTTGAGCTTTTACCTACGCCTTTGCTTTTTGTTAAAGGAAGAATTCAATGCAATGTGTTCAGAAAGTTACATTTAAATCGTTAATAAAGAGAAAAAGGAAGAGAAAGAGAGGACACCATTCCGACACAAACGTTTATGTGATTTTAGCCATTACAACAGTAATTCAGAAATATCTCAAATGTTACATTGATGTCATCAATATTACAAAAAAGGAAAAAAAAAGTGACAGGCAACAGTGAAGAGCACCAGAGACCCAGCGCACACCTAAAGTAGACCATGCTTCTTTCCTTCCACTGCCAGGTTATCGTCCCGGGAAGCCCCCCACCCCCTCGCTTTCCTCCTCCGCTTTCCCTAACCCGTCTCGCGGGGGCATCTACGCCTCGTCCTCGCCCTCCTCCTCCTCGAACTCCCCTTGTTCGTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCGGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAGGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTGGCCGACATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGTTCTGCACGTTGAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAAGATGGCAGCCACCGTCAGGTAGCGGCCGTGGCGCGGGTCGCAGGCGGCCATCATGTTCTTGGAGTCGAACATCTGCTGGGTGAGCTCGGGCACCGTGAGCGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGCGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGGAAGGGCACCATGTTCACCGCCAGCTTGCGCAGGTCTGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTCAGGGTGCGGAAGCAGATGTCATACAGGGCCTCGTTGTCAATGCAGTAGGTTTCATCTGTGTTTTCCACCAGCTGGTGGACCGAGAGGGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACCTTGGGTGAGGGCATGACGCTGAAGGTGTTCATGATGCGGTCTGGGTACTCTTCCCGGATCTTGCTGATGAGCAGGGTGCCCATCCCGGACCCCGTGCCGCCCCCCAGAGAGTGGGTCAGCTGGAAGCCCTGGAGACAGTCACAGCTCTCTGACTCCTTCCTCACCACATCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTGGCCCTTGGCCCAGTTATTCCCGGCTCCACTCTGGCCTGCCAGAGGGAAAGAGAAATCTTAAGTCACCGGTGATTGTACTAAATACCTTACCTCAAACCCCTCAATATAGATCAGTGAGTCAATGCTCAGATAAGACTATTTCAGATTATCACCAAAATGGCCAAACGTTAAAATATTTGTTCATGAATATAATTATAAATAAGGAAGGCCAGGACACCAAGCTCTTAGCAGCTGAAAGGCAAACAATTTTACACTATATTAAAGCTAAGTTGGCACACCGCGGATGTTCTTCATGCTTTCCCTCTGGCAATCACACCTCTTCAGCCTCCACTGCCCAGCGTAAAATGAATCCCTCATGCTCTCAGCCACACCAGGCACTCACCAAACACGAAATTGTCTGGTCTGAAGATCTGGCCGAATGGTCCAGACCTAACCGAATCCATCGTGCCTGGCTCCAGATCCACGAGGATGGCCCGAGGAACATATTTGTTACCTGCAAGGAACAACAGTGACTTAGACCCTCAGGCAAGGACCTCTGCAGAGAAGGGCTTGGCGCCTGCTGCCATCATGCAGATGTTGCCCCAAACAAAGGGAGACCCACCATCAGGTTCTCAAAGGGCTCTGTTGGCATAAGGAAGCCCAATGAAATACTGCAGGGAAAGAGCGGGGATCCTAAACTGAATAGTCCACCCTCTCCCAGGGCCACACCCCTGGGGTCCCACGCAAGGGAAAGGGGAGAAGGTGGAAAAACTGAAGGGAGTGGGGGTGGGGCAAGGGTGATTACCAGTGGCTTCATTGTAGTAAACATTGATTCTCTCCAGCTGCAAATCACTGTCTCCATGGTAACTGCCAGTGGGGTCAATCCCATGCTCATCACTGATGACCTCCCAAAACTGAGACAGAAAGGCTGCATTTAGCCATGAACGATGCCCCCAGAAACGCCAAGGCTCACAATGAAATGTCCCCGACTCAGTTCCGACAACCCAACATTTCAGGAGCTTGAAGCTTTAAAGGGCGTCGTGACCCGGGCACAGCCGCGGGGCTTGTATTTTGCAGGTTCAGAAAGTTGAAACTGGGCGTTTCCCAGGCAAACAGCTGCCGCTCGCGGGGGGAGGTAGGGGTCGAGGGGGTAAGGACCAGCCAAAGCCGGGCAGTGGCGGAGCTTGGCGCACTGGTCGCAGCCCCAGGCTGCGGCAGGAGGCGAGGGCACAGGGACTGCAGCCCGCCAGGAGCGGGTGGGCGGGGAAAGAGGAACGCAAAGGAGCTAAAGGACCGCGGTTTTAGATTCAAAGCACGTCCTGAGACCGCAAGACAATCGCTCTCCTCCCCTCCCCCGGCAGCTCGACTCCGGTTCAAGCGAGTACAATTAATCCTCCTGGTGTCCCAGCCCCTCGCGCGGAGCGCCGCGCACAGCCTCGCGGACACACCCTCGTCTTCTCCAGGCACGCGTGCCTGCCAAGCAGCCAGCGCGGAGGGAGGCCGAGGGGGTGACGGGGACTCCAAATGAGTTACAGCAGAAAGAAAGAGAGGTGCCCCCTCCGTCCGCGAAAGTCACCTCCTAGCCCAGGCCACACTCGGCGGCACAAAGCGGCCAGGAAGGTCTGCATTTGGCGATCCCCAGGCCTTCCCAGGACCGCGCCTGGGGACCCCGAGGGGCTCTCGGCCCAGGTTCGCGCC
ATTTATCCCATAGGAACATCTTAACTGAAAATCCATTATTGAAATCCTATAGCTTCTTTAGTGGTTGAGTTCAAGTCCAGAGTCAGACTTGGGTTCAAATCCCAAATCCTATTTCTGCATGGAAAAAAAAATGCAATAGGCTGAAAATTATTCTGGATTGCCTACTTAAAGTAAAATTCCCCAACAATGCAGAATTTATAATTCCATCTAAACTCAAATGATGTTAAAAATAAGTACAAATAGTTTGTAATATAGTATAAATATGATTGCCTGGAGAAAAAGTTGCTTGAGAATTGAGAATGAGCCTATTCACTGTTTATAACTCTATAGCTATTCCTAAGTGCAGGTGATATAACTTAAAAAGGCACATGCCTTTGACAAAAAATTCCATTTGTGGAAATTTACAGGATAACTATTCTCATATGCACACTAATAAATGAACAAAATTATTCATTGTGACACTATGCTGTAAGTATAAACCTTAATGACCATTGGTAGGGAATTGGCTAAATAAAACATAGCACAACTATATAATGGACGCTACATATCCATTTAAAGGAGGGAAGCTCTCTGTAGGTTCAAGATACACTGTTTAGTGAAGAAGGCTGCAGAATTGTGTTAGTATCACATCATGTGTGTGAAGAAAGAGAAAAAGGAAATATCCTACATGGGTTTGAAAATATATGGAGTATTTCTGCAAGGAAGTAAGAAAGATAACCGTGATTAGGATGGTTTCCCTCCAGGGAGGAAACTGCATCAAGGAACACAGGAAAAAGACACACTCACTTTCCACTCTTCAGAATTTTGTGCTGTGAGTATGTAGGAACTATTCCAAAAATGCTTTTTTTTTTTTTGTAAAGGAGATAAAAGCATAGTAGGAATTGCACATGAAGACACACACTGTGCTTTCAAGTAGACATTTTTTCAACTAATATTTATTAAAGGTATTTTAAAACTCAGGTTGATCTCTCATCTTAACTGTGATTGGTTCAATTTTACCATACCGAAAGAATAAATTCATTTGAGCTTTTACCTACGCCTTTGCTTTTTGTTAAAGGAAGAATTCAATGCAATGTGTTCAGAAAGTTACATTTAAATCGTTAATAAAGAGAAAAAGGAAGAGAAAGAGAGGACACCATTCCGACACAAACGTTTATGTGATTTTAGCCATTACAACAGTAATTCAGAAATATCTCAAATGTTACATTGATGTCATCAATATTACAAAAAAGGAAAAAAAAAGTGACAGGCAACAGTGAAGAGCACCAGAGACCCAGCGCACACCTAAAGTAGACCATGCTTCTTTCCTTCCACTGCCAGGTTATCGTCCCGGGAAGCCCCCCACCCCCTCGCTTTCCTCCTCCGCTTTCCCTAACCCGTCTCGCGGGGGCATCTACGCCTCGTCCTCGCCCTCCTCCTCCTCGAACTCCCCTTGTTCGTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCGGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAGGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTGGCCGACATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGTTCTGCACGTTGAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAAGATGGCAGCCACCGTCAGGTAGCGGCCGTGGCGCGGGTCGCAGGCGGCCATCATGTTCTTGGAGTCGAACATCTGCTGGGTGAGCTCGGGCACCGTGAGCGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGCGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGGAAGGGCACCATGTTCACCGCCAGCTTGCGCAGGTCTGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCGGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTCAGGGTGCGGAAGCAGATGTCATACAGGGCCTCGTTGTCAATGCAGTAGGTTTCATCTGTGTTTTCCACCAGCTGGTGGACCGAGAGGGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACCTTGGGTGAGGGCATGACGCTGAAGGTGTTCATGATGCGGTCTGGGTACTCTTCCCGGATCTTGCTGATGAGCAGGGTGCCCATCCCGGACCCCGTGCCGCCCCCCAGAGAGTGGGTCAGCTGGAAGCCCTGGAGACAGTCACAGCTCTCTGACTCCTTCCTCACCACATCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTGGCCCTTGGCCCAGTTATTCCCGGCTCCACTCTGGCCTGCCAGAGGGAAAGAGAAATCTTAAGTCACCGGTGATTGTACTAAATACCTTACCTCAAACCCCTCAATATAGATCAGTGAGTCAATGCTCAGATAAGACTATTTCAGATTATCACCAAAATGGCCAAACGTTAAAATATTTGTTCATGAATATAATTATAAATAAGGAAGGCCAGGACACCAAGCTCTTAGCAGCTGAAAGGCAAACAATTTTACACTATATTAAAGCTAAGTTGGCACACCGCGGATGTTCTTCATGCTTTCCCTCTGGCAATCACACCTCTTCAGCCTCCACTGCCCAGCGTAAAATGAATCCCTCATGCTCTCAGCCACACCAGGCACTCACCAAACACGAAATTGTCTGGTCTGAAGATCTGGCCGAATGGTCCAGACCTAACCGAATCCATCGTGCCTGGCTCCAGATCCACGAGGATGGCCCGAGGAACATATTTGTTACCTGCAAGGAACAACAGTGACTTAGACCCTCAGGCAAGGACCTCTGCAGAGAAGGGCTTGGCGCCTGCTGCCATCATGCAGATGTTGCCCCAAACAAAGGGAGACCCACCATCAGGTTCTCAAAGGGCTCTGTTGGCATAAGGAAGCCCAATGAAATACTGCAGGGAAAGAGCGGGGATCCTAAACTGAATAGTCCACCCTCTCCCAGGGCCACACCCCTGGGGTCCCACGCAAGGGAAAGGGGAGAAGGTGGAAAAACTGAAGGGAGTGGGGGTGGGGCAAGGGTGATTACCAGTGGCTTCATTGTAGTAAACATTGATTCTCTCCAGCTGCAAATCACTGTCTCCATGGTAACTGCCAGTGGGGTCAATCCCATGCTCATCACTGATGACCTCCCAAAACTGAGACAGAAAGGCTGCATTTAGCCATGAACGATGCCCCCAGAAACGCCAAGGCTCACAATGAAATGTCCCCGACTCAGTTCCGACAACCCAACATTTCAGGAGCTTGAAGCTTTAAAGGGCGTCGTGACCCGGGCACAGCCGCGGGGCTTGTATTTTGCAGGTTCAGAAAGTTGAAACTGGGCGTTTCCCAGGCAAACAGCTGCCGCTCGCGGGGGGAGGTAGGGGTCGAGGGGGTAAGGACCAGCCAAAGCCGGGCAGTGGCGGAGCTTGGCGCACTGGTCGCAGCCCCAGGCTGCGGCAGGAGGCGAGGGCACAGGGACTGCAGCCCGCCAGGAGCGGGTGGGCGGGGAAAGAGGAACGCAAAGGAGCTAAAGGACCGCGGTTTTAGATTCAAAGCACGTCCTGAGACCGCAAGACAATCGCTCTCCTCCCCTCCCCCGGCAGCTCGACTCCGGTTCAAGCGAGTACAATTAATCCTCCTGGTGTCCCAGCCCCTCGCGCGGAGCGCCGCGCACAGCCTCGCGGACACACCCTCGTCTTCTCCAGGCACGCGTGCCTGCCAAGCAGCCAGCGCGGAGGGAGGCCGAGGGGGTGACGGGGACTCCAAATGAGTTACAGCAGAAAGAAAGAGAGGTGCCCCCTCCGTCCGCGAAAGTCACCTCCTAGCCCAGGCCACACTCGGCGGCACAAAGCGGCCAGGAAGGTCTGCATTTGGCGATCCCCAGGCCTTCCCAGGACCGCGCCTGGGGACCCCGAGGGGCTCTCGGCCCAGGTTCGCGCC
Task1_train_9972
Mutation context: Chromosome 6, Gene TUBB2B (tubulin beta 2B class IIb). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Complex cortical dysplasia with other brain malformations 7
AGTAAAATTCCCCAACAATGCAGAATTTATAATTCCATCTAAACTCAAATGATGTTAAAAATAAGTACAAATAGTTTGTAATATAGTATAAATATGATTGCCTGGAGAAAAAGTTGCTTGAGAATTGAGAATGAGCCTATTCACTGTTTATAACTCTATAGCTATTCCTAAGTGCAGGTGATATAACTTAAAAAGGCACATGCCTTTGACAAAAAATTCCATTTGTGGAAATTTACAGGATAACTATTCTCATATGCACACTAATAAATGAACAAAATTATTCATTGTGACACTATGCTGTAAGTATAAACCTTAATGACCATTGGTAGGGAATTGGCTAAATAAAACATAGCACAACTATATAATGGACGCTACATATCCATTTAAAGGAGGGAAGCTCTCTGTAGGTTCAAGATACACTGTTTAGTGAAGAAGGCTGCAGAATTGTGTTAGTATCACATCATGTGTGTGAAGAAAGAGAAAAAGGAAATATCCTACATGGGTTTGAAAATATATGGAGTATTTCTGCAAGGAAGTAAGAAAGATAACCGTGATTAGGATGGTTTCCCTCCAGGGAGGAAACTGCATCAAGGAACACAGGAAAAAGACACACTCACTTTCCACTCTTCAGAATTTTGTGCTGTGAGTATGTAGGAACTATTCCAAAAATGCTTTTTTTTTTTTTGTAAAGGAGATAAAAGCATAGTAGGAATTGCACATGAAGACACACACTGTGCTTTCAAGTAGACATTTTTTCAACTAATATTTATTAAAGGTATTTTAAAACTCAGGTTGATCTCTCATCTTAACTGTGATTGGTTCAATTTTACCATACCGAAAGAATAAATTCATTTGAGCTTTTACCTACGCCTTTGCTTTTTGTTAAAGGAAGAATTCAATGCAATGTGTTCAGAAAGTTACATTTAAATCGTTAATAAAGAGAAAAAGGAAGAGAAAGAGAGGACACCATTCCGACACAAACGTTTATGTGATTTTAGCCATTACAACAGTAATTCAGAAATATCTCAAATGTTACATTGATGTCATCAATATTACAAAAAAGGAAAAAAAAAGTGACAGGCAACAGTGAAGAGCACCAGAGACCCAGCGCACACCTAAAGTAGACCATGCTTCTTTCCTTCCACTGCCAGGTTATCGTCCCGGGAAGCCCCCCACCCCCTCGCTTTCCTCCTCCGCTTTCCCTAACCCGTCTCGCGGGGGCATCTACGCCTCGTCCTCGCCCTCCTCCTCCTCGAACTCCCCTTGTTCGTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCGGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAGGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTGGCCGACATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGTTCTGCACGTTGAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAAGATGGCAGCCACCGTCAGGTAGCGGCCGTGGCGCGGGTCGCAGGCGGCCATCATGTTCTTGGAGTCGAACATCTGCTGGGTGAGCTCGGGCACCGTGAGCGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGCGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGGAAGGGCACCATGTTCACCGCCAGCTTGCGCAGGTCTGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTCAGGGTGCGGAAGCAGATGTCATACAGGGCCTCGTTGTCAATGCAGTAGGTTTCATCTGTGTTTTCCACCAGCTGGTGGACCGAGAGGGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACCTTGGGTGAGGGCATGACGCTGAAGGTGTTCATGATGCGGTCTGGGTACTCTTCCCGGATCTTGCTGATGAGCAGGGTGCCCATCCCGGACCCCGTGCCGCCCCCCAGAGAGTGGGTCAGCTGGAAGCCCTGGAGACAGTCACAGCTCTCTGACTCCTTCCTCACCACATCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTGGCCCTTGGCCCAGTTATTCCCGGCTCCACTCTGGCCTGCCAGAGGGAAAGAGAAATCTTAAGTCACCGGTGATTGTACTAAATACCTTACCTCAAACCCCTCAATATAGATCAGTGAGTCAATGCTCAGATAAGACTATTTCAGATTATCACCAAAATGGCCAAACGTTAAAATATTTGTTCATGAATATAATTATAAATAAGGAAGGCCAGGACACCAAGCTCTTAGCAGCTGAAAGGCAAACAATTTTACACTATATTAAAGCTAAGTTGGCACACCGCGGATGTTCTTCATGCTTTCCCTCTGGCAATCACACCTCTTCAGCCTCCACTGCCCAGCGTAAAATGAATCCCTCATGCTCTCAGCCACACCAGGCACTCACCAAACACGAAATTGTCTGGTCTGAAGATCTGGCCGAATGGTCCAGACCTAACCGAATCCATCGTGCCTGGCTCCAGATCCACGAGGATGGCCCGAGGAACATATTTGTTACCTGCAAGGAACAACAGTGACTTAGACCCTCAGGCAAGGACCTCTGCAGAGAAGGGCTTGGCGCCTGCTGCCATCATGCAGATGTTGCCCCAAACAAAGGGAGACCCACCATCAGGTTCTCAAAGGGCTCTGTTGGCATAAGGAAGCCCAATGAAATACTGCAGGGAAAGAGCGGGGATCCTAAACTGAATAGTCCACCCTCTCCCAGGGCCACACCCCTGGGGTCCCACGCAAGGGAAAGGGGAGAAGGTGGAAAAACTGAAGGGAGTGGGGGTGGGGCAAGGGTGATTACCAGTGGCTTCATTGTAGTAAACATTGATTCTCTCCAGCTGCAAATCACTGTCTCCATGGTAACTGCCAGTGGGGTCAATCCCATGCTCATCACTGATGACCTCCCAAAACTGAGACAGAAAGGCTGCATTTAGCCATGAACGATGCCCCCAGAAACGCCAAGGCTCACAATGAAATGTCCCCGACTCAGTTCCGACAACCCAACATTTCAGGAGCTTGAAGCTTTAAAGGGCGTCGTGACCCGGGCACAGCCGCGGGGCTTGTATTTTGCAGGTTCAGAAAGTTGAAACTGGGCGTTTCCCAGGCAAACAGCTGCCGCTCGCGGGGGGAGGTAGGGGTCGAGGGGGTAAGGACCAGCCAAAGCCGGGCAGTGGCGGAGCTTGGCGCACTGGTCGCAGCCCCAGGCTGCGGCAGGAGGCGAGGGCACAGGGACTGCAGCCCGCCAGGAGCGGGTGGGCGGGGAAAGAGGAACGCAAAGGAGCTAAAGGACCGCGGTTTTAGATTCAAAGCACGTCCTGAGACCGCAAGACAATCGCTCTCCTCCCCTCCCCCGGCAGCTCGACTCCGGTTCAAGCGAGTACAATTAATCCTCCTGGTGTCCCAGCCCCTCGCGCGGAGCGCCGCGCACAGCCTCGCGGACACACCCTCGTCTTCTCCAGGCACGCGTGCCTGCCAAGCAGCCAGCGCGGAGGGAGGCCGAGGGGGTGACGGGGACTCCAAATGAGTTACAGCAGAAAGAAAGAGAGGTGCCCCCTCCGTCCGCGAAAGTCACCTCCTAGCCCAGGCCACACTCGGCGGCACAAAGCGGCCAGGAAGGTCTGCATTTGGCGATCCCCAGGCCTTCCCAGGACCGCGCCTGGGGACCCCGAGGGGCTCTCGGCCCAGGTTCGCGCCCCCATTGGACCCCCTCCGCTGCGGCGCGCCCACCTTGGCGCCGATCTGGTTGCCGCACTGGCCCGCCTGGATGTGCACGATCTCACGCATGGTGCCTCGTCAGCGTCCTCCTGGTCCGGCGGCGTCTGGGTCTGTCCGTCCTCCCCTCACACACCCACTGCGGGGTCAC
AGTAAAATTCCCCAACAATGCAGAATTTATAATTCCATCTAAACTCAAATGATGTTAAAAATAAGTACAAATAGTTTGTAATATAGTATAAATATGATTGCCTGGAGAAAAAGTTGCTTGAGAATTGAGAATGAGCCTATTCACTGTTTATAACTCTATAGCTATTCCTAAGTGCAGGTGATATAACTTAAAAAGGCACATGCCTTTGACAAAAAATTCCATTTGTGGAAATTTACAGGATAACTATTCTCATATGCACACTAATAAATGAACAAAATTATTCATTGTGACACTATGCTGTAAGTATAAACCTTAATGACCATTGGTAGGGAATTGGCTAAATAAAACATAGCACAACTATATAATGGACGCTACATATCCATTTAAAGGAGGGAAGCTCTCTGTAGGTTCAAGATACACTGTTTAGTGAAGAAGGCTGCAGAATTGTGTTAGTATCACATCATGTGTGTGAAGAAAGAGAAAAAGGAAATATCCTACATGGGTTTGAAAATATATGGAGTATTTCTGCAAGGAAGTAAGAAAGATAACCGTGATTAGGATGGTTTCCCTCCAGGGAGGAAACTGCATCAAGGAACACAGGAAAAAGACACACTCACTTTCCACTCTTCAGAATTTTGTGCTGTGAGTATGTAGGAACTATTCCAAAAATGCTTTTTTTTTTTTTGTAAAGGAGATAAAAGCATAGTAGGAATTGCACATGAAGACACACACTGTGCTTTCAAGTAGACATTTTTTCAACTAATATTTATTAAAGGTATTTTAAAACTCAGGTTGATCTCTCATCTTAACTGTGATTGGTTCAATTTTACCATACCGAAAGAATAAATTCATTTGAGCTTTTACCTACGCCTTTGCTTTTTGTTAAAGGAAGAATTCAATGCAATGTGTTCAGAAAGTTACATTTAAATCGTTAATAAAGAGAAAAAGGAAGAGAAAGAGAGGACACCATTCCGACACAAACGTTTATGTGATTTTAGCCATTACAACAGTAATTCAGAAATATCTCAAATGTTACATTGATGTCATCAATATTACAAAAAAGGAAAAAAAAAGTGACAGGCAACAGTGAAGAGCACCAGAGACCCAGCGCACACCTAAAGTAGACCATGCTTCTTTCCTTCCACTGCCAGGTTATCGTCCCGGGAAGCCCCCCACCCCCTCGCTTTCCTCCTCCGCTTTCCCTAACCCGTCTCGCGGGGGCATCTACGCCTCGTCCTCGCCCTCCTCCTCCTCGAACTCCCCTTGTTCGTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCGGACACCAGGTCGTTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAGGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTGGCCGACATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGTTCTGCACGTTGAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAAGATGGCAGCCACCGTCAGGTAGCGGCCGTGGCGCGGGTCGCAGGCGGCCATCATGTTCTTGGAGTCGAACATCTGCTGGGTGAGCTCGGGCACCGTGAGCGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGCGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGGAAGGGCACCATGTTCACCGCCAGCTTGCGCAGGTCTGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTCAGGGTGCGGAAGCAGATGTCATACAGGGCCTCGTTGTCAATGCAGTAGGTTTCATCTGTGTTTTCCACCAGCTGGTGGACCGAGAGGGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACCTTGGGTGGGGGCATGACGCTGAAGGTGTTCATGATGCGGTCTGGGTACTCTTCCCGGATCTTGCTGATGAGCAGGGTGCCCATCCCGGACCCCGTGCCGCCCCCCAGAGAGTGGGTCAGCTGGAAGCCCTGGAGACAGTCACAGCTCTCTGACTCCTTCCTCACCACATCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTGGCCCTTGGCCCAGTTATTCCCGGCTCCACTCTGGCCTGCCAGAGGGAAAGAGAAATCTTAAGTCACCGGTGATTGTACTAAATACCTTACCTCAAACCCCTCAATATAGATCAGTGAGTCAATGCTCAGATAAGACTATTTCAGATTATCACCAAAATGGCCAAACGTTAAAATATTTGTTCATGAATATAATTATAAATAAGGAAGGCCAGGACACCAAGCTCTTAGCAGCTGAAAGGCAAACAATTTTACACTATATTAAAGCTAAGTTGGCACACCGCGGATGTTCTTCATGCTTTCCCTCTGGCAATCACACCTCTTCAGCCTCCACTGCCCAGCGTAAAATGAATCCCTCATGCTCTCAGCCACACCAGGCACTCACCAAACACGAAATTGTCTGGTCTGAAGATCTGGCCGAATGGTCCAGACCTAACCGAATCCATCGTGCCTGGCTCCAGATCCACGAGGATGGCCCGAGGAACATATTTGTTACCTGCAAGGAACAACAGTGACTTAGACCCTCAGGCAAGGACCTCTGCAGAGAAGGGCTTGGCGCCTGCTGCCATCATGCAGATGTTGCCCCAAACAAAGGGAGACCCACCATCAGGTTCTCAAAGGGCTCTGTTGGCATAAGGAAGCCCAATGAAATACTGCAGGGAAAGAGCGGGGATCCTAAACTGAATAGTCCACCCTCTCCCAGGGCCACACCCCTGGGGTCCCACGCAAGGGAAAGGGGAGAAGGTGGAAAAACTGAAGGGAGTGGGGGTGGGGCAAGGGTGATTACCAGTGGCTTCATTGTAGTAAACATTGATTCTCTCCAGCTGCAAATCACTGTCTCCATGGTAACTGCCAGTGGGGTCAATCCCATGCTCATCACTGATGACCTCCCAAAACTGAGACAGAAAGGCTGCATTTAGCCATGAACGATGCCCCCAGAAACGCCAAGGCTCACAATGAAATGTCCCCGACTCAGTTCCGACAACCCAACATTTCAGGAGCTTGAAGCTTTAAAGGGCGTCGTGACCCGGGCACAGCCGCGGGGCTTGTATTTTGCAGGTTCAGAAAGTTGAAACTGGGCGTTTCCCAGGCAAACAGCTGCCGCTCGCGGGGGGAGGTAGGGGTCGAGGGGGTAAGGACCAGCCAAAGCCGGGCAGTGGCGGAGCTTGGCGCACTGGTCGCAGCCCCAGGCTGCGGCAGGAGGCGAGGGCACAGGGACTGCAGCCCGCCAGGAGCGGGTGGGCGGGGAAAGAGGAACGCAAAGGAGCTAAAGGACCGCGGTTTTAGATTCAAAGCACGTCCTGAGACCGCAAGACAATCGCTCTCCTCCCCTCCCCCGGCAGCTCGACTCCGGTTCAAGCGAGTACAATTAATCCTCCTGGTGTCCCAGCCCCTCGCGCGGAGCGCCGCGCACAGCCTCGCGGACACACCCTCGTCTTCTCCAGGCACGCGTGCCTGCCAAGCAGCCAGCGCGGAGGGAGGCCGAGGGGGTGACGGGGACTCCAAATGAGTTACAGCAGAAAGAAAGAGAGGTGCCCCCTCCGTCCGCGAAAGTCACCTCCTAGCCCAGGCCACACTCGGCGGCACAAAGCGGCCAGGAAGGTCTGCATTTGGCGATCCCCAGGCCTTCCCAGGACCGCGCCTGGGGACCCCGAGGGGCTCTCGGCCCAGGTTCGCGCCCCCATTGGACCCCCTCCGCTGCGGCGCGCCCACCTTGGCGCCGATCTGGTTGCCGCACTGGCCCGCCTGGATGTGCACGATCTCACGCATGGTGCCTCGTCAGCGTCCTCCTGGTCCGGCGGCGTCTGGGTCTGTCCGTCCTCCCCTCACACACCCACTGCGGGGTCAC
Task1_train_9973
This mutation is located in gene TUBB2B (tubulin beta 2B class IIb) on Chromosome 6. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; not provided
GGTTTCATCTGTGTTTTCCACCAGCTGGTGGACCGAGAGGGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACCTTGGGTGAGGGCATGACGCTGAAGGTGTTCATGATGCGGTCTGGGTACTCTTCCCGGATCTTGCTGATGAGCAGGGTGCCCATCCCGGACCCCGTGCCGCCCCCCAGAGAGTGGGTCAGCTGGAAGCCCTGGAGACAGTCACAGCTCTCTGACTCCTTCCTCACCACATCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTGGCCCTTGGCCCAGTTATTCCCGGCTCCACTCTGGCCTGCCAGAGGGAAAGAGAAATCTTAAGTCACCGGTGATTGTACTAAATACCTTACCTCAAACCCCTCAATATAGATCAGTGAGTCAATGCTCAGATAAGACTATTTCAGATTATCACCAAAATGGCCAAACGTTAAAATATTTGTTCATGAATATAATTATAAATAAGGAAGGCCAGGACACCAAGCTCTTAGCAGCTGAAAGGCAAACAATTTTACACTATATTAAAGCTAAGTTGGCACACCGCGGATGTTCTTCATGCTTTCCCTCTGGCAATCACACCTCTTCAGCCTCCACTGCCCAGCGTAAAATGAATCCCTCATGCTCTCAGCCACACCAGGCACTCACCAAACACGAAATTGTCTGGTCTGAAGATCTGGCCGAATGGTCCAGACCTAACCGAATCCATCGTGCCTGGCTCCAGATCCACGAGGATGGCCCGAGGAACATATTTGTTACCTGCAAGGAACAACAGTGACTTAGACCCTCAGGCAAGGACCTCTGCAGAGAAGGGCTTGGCGCCTGCTGCCATCATGCAGATGTTGCCCCAAACAAAGGGAGACCCACCATCAGGTTCTCAAAGGGCTCTGTTGGCATAAGGAAGCCCAATGAAATACTGCAGGGAAAGAGCGGGGATCCTAAACTGAATAGTCCACCCTCTCCCAGGGCCACACCCCTGGGGTCCCACGCAAGGGAAAGGGGAGAAGGTGGAAAAACTGAAGGGAGTGGGGGTGGGGCAAGGGTGATTACCAGTGGCTTCATTGTAGTAAACATTGATTCTCTCCAGCTGCAAATCACTGTCTCCATGGTAACTGCCAGTGGGGTCAATCCCATGCTCATCACTGATGACCTCCCAAAACTGAGACAGAAAGGCTGCATTTAGCCATGAACGATGCCCCCAGAAACGCCAAGGCTCACAATGAAATGTCCCCGACTCAGTTCCGACAACCCAACATTTCAGGAGCTTGAAGCTTTAAAGGGCGTCGTGACCCGGGCACAGCCGCGGGGCTTGTATTTTGCAGGTTCAGAAAGTTGAAACTGGGCGTTTCCCAGGCAAACAGCTGCCGCTCGCGGGGGGAGGTAGGGGTCGAGGGGGTAAGGACCAGCCAAAGCCGGGCAGTGGCGGAGCTTGGCGCACTGGTCGCAGCCCCAGGCTGCGGCAGGAGGCGAGGGCACAGGGACTGCAGCCCGCCAGGAGCGGGTGGGCGGGGAAAGAGGAACGCAAAGGAGCTAAAGGACCGCGGTTTTAGATTCAAAGCACGTCCTGAGACCGCAAGACAATCGCTCTCCTCCCCTCCCCCGGCAGCTCGACTCCGGTTCAAGCGAGTACAATTAATCCTCCTGGTGTCCCAGCCCCTCGCGCGGAGCGCCGCGCACAGCCTCGCGGACACACCCTCGTCTTCTCCAGGCACGCGTGCCTGCCAAGCAGCCAGCGCGGAGGGAGGCCGAGGGGGTGACGGGGACTCCAAATGAGTTACAGCAGAAAGAAAGAGAGGTGCCCCCTCCGTCCGCGAAAGTCACCTCCTAGCCCAGGCCACACTCGGCGGCACAAAGCGGCCAGGAAGGTCTGCATTTGGCGATCCCCAGGCCTTCCCAGGACCGCGCCTGGGGACCCCGAGGGGCTCTCGGCCCAGGTTCGCGCCCCCATTGGACCCCCTCCGCTGCGGCGCGCCCACCTTGGCGCCGATCTGGTTGCCGCACTGGCCCGCCTGGATGTGCACGATCTCACGCATGGTGCCTCGTCAGCGTCCTCCTGGTCCGGCGGCGTCTGGGTCTGTCCGTCCTCCCCTCACACACCCACTGCGGGGTCACCGGGAAGGCGCTCGGGAACCGACGGGCTGAGAGCGCCGGCCCCGCGGGCTCCGGCTTTTATGCAAGGAGGGTGGGGCGGCCGGCACAGGCCGCGCCCCCAGCCCGAGCCCCCCAGTCCCCTTCGCGCTGGCGCTCTCCAGGCCCGGCTGACGTAATGCTCCGAGCCCTAGGGACCGTCCGGGGGGCTGGACCACCGGCCCGCGGCCAATCAGAGCGGGCGTGCCGACCGGGAGAGGGGTGGGGGCTACCGGGAGTATGGTGGGGGCGTGCGCATTGTCTGGGGCTGTGGTGGGGGTCTGGGTATGGGGATATGGGGGAACAGTGAAGAAAAGGAGGGTGAGAGGGCGGCGAGGCGAGGGCCACCAGCGCGTCCTGACCGGGGTGGGGGCAGAGCTGGCACCGGATGGGAACGATGGAGGACTGGAGCATGTGGAGAAGCCGTCAGGTGCTCCAGTGCCGGCAGGTGGGAGGGCTGAGGTGGCACAGGCTGCTCCGCCACCTCGGACTGCGGCTCCTACTCGGCCACTGGCCAGAGTCCCTCCAGCCAACTGCCCCTGGTGAGACCACCGTCTTTTTCCTCAACCCTGGAGGCCAGCGACTGCCCAGGCGGCGCTCCGTCTCACAGAGGCCTGGGGGAGGACAGGTGGCCCCAGAAGGAAGTCGTGCTTGATGGCAACCGGGACACCTGCGGCCCATGAACACCAGCGCGGCCTCCGCCCCCGCCCCAGCGTGGGCCTGCTTTCTCCTTTGTCTGTCTTGGGCTGGTAGCTCCTCTCACTGCGCCGCAGCATCTAGGGGTGAAGCGACCTCGGAGCCCCTCAGCCCTGCCCGACCCTCTCCGGGAGTGCATAACGCCCCTGCTGGTACCCAGGAGCCCTCTGCCCCGGGGGTTGACTTTTGTTGCTCGCTAGTGATGGAGTGGGAGTGGCCGGTGGCGCTGCACTGACCGTCCGGAGGGCAGAAAGAGGGTGGGGTCCCGGGGGCGGGGCTGTCGGCGGAACAAAGGGCTCTCAGAAACGTGGGATACGCTGTGTAACCCAGTATTTAAAACCACACGACAGGCGCCCCACCCCCCCACCCCGCCCTCGGATTCAGTTCATCTATTGTCAAGTAAGAGGGTGGGTTCCAAGGGTGGCCCAAGCCCGAGTAACAAACTTTCTTATCTTCCATCGCGGCGACCTGGAGGTCCGAGGCTTCGTGCTGCGGTTGAAGGGTGGGGAATACGACTAAAAACTGCAGCCCAGCGCGCGCGAGACGACCCAAGACCCACGCGCACTCGCACGAGCGCGTGCACAGACTTGGAGCACAGACCCTCCCTTCAGATCCGCAGTCTCTAGGTACTGAGGCAGGAACTGGTCTCTTTGTTACTTTTCGCGCGCGCGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAAAGAGAGAGAGAGAGAGACTAATCCTGCGTGCGTTTGAGGGCGGGAGGGGAAAGGGTGTCAGAAACGTTCACTGCACAACCTGTTCCCTGCAATTCGATGACTGAAGCGCGCCGCCCCACACTTCGGAAGGGCCGTTGGCGAGGTGACGTGACCTCTTTCATCCCCTGGCGAGAAAGGCCGAATGACCCGGGCGCACGCGGCGGAGCTCAGCCTGCAGCTGTTGAGCGAGACCCTCCCAGAACTATCAGCAAGCTGTCATCGCCTCCCTTTCCCGCTGTGGGGTGGAGGGTGGGGGGTTCAAGTCGATTCCAATGTACAAAGAGAAGTAGCGAGAACAAAAGCCCAGGCGCCCCCAAACATCCAGGGCGCCCAGACTGGAGCTCGCCGGCCGGTATTCCAGACCCGGCCGGCGTGCCCGGGTGAGGGTGGGGTCTACCGAGAGGCAGAGAGCAGCGGAGGGTCTGTCCACATGCCCTGCTCTCCCGGTACCAAGGTCTCGGGGCCTGACCTCCGAGTTTCTAATCCAGATCCTGCAGATGCCGAAACGTCGA
GGTTTCATCTGTGTTTTCCACCAGCTGGTGGACCGAGAGGGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACCTTGGGTGAGGGCATGACGCTGAAGGTGTTCATGATGCGGTCTGGGTACTCTTCCCGGATCTTGCTGATGAGCAGGGTGCCCATCCCGGACCCCGTGCCGCCCCCCAGAGAGTGGGTCAGCTGGAAGCCCTGGAGACAGTCACAGCTCTCTGACTCCTTCCTCACCACATCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTGGCCCTTGGCCCAGTTATTCCCGGCTCCACTCTGGCCTGCCAGAGGGAAAGAGAAATCTTAAGTCACCGGTGATTGTACTAAATACCTTACCTCAAACCCCTCAATATAGATCAGTGAGTCAATGCTCAGATAAGACTATTTCAGATTATCACCAAAATGGCCAAACGTTAAAATATTTGTTCATGAATATAATTATAAATAAGGAAGGCCAGGACACCAAGCTCTTAGCAGCTGAAAGGCAAACAATTTTACACTATATTAAAGCTAAGTTGGCACACCGCGGATGTTCTTCATGCTTTCCCTCTGGCAATCACACCTCTTCAGCCTCCACTGCCCAGCGTAAAATGAATCCCTCATGCTCTCAGCCACACCAGGCACTCACCAAACACGAAATTGTCTGGTCTGAAGATCTGGCCGAATGGTCCAGACCTAACCGAATCCATCGTGCCTGGCTCCAGATCCACGAGGATGGCCCGAGGAACATATTTGTTACCTGCAAGGAACAACAGTGACTTAGACCCTCAGGCAAGGACCTCTGCAGAGAAGGGCTTGGCGCCTGCTGCCATCATGCAGATGTTGCCCCAAACAAAGGGAGACCCACCATCAGGTTCTCAAAGGGCTCTGTTGGCATAAGGAAGCCCAATGAAATACTGCAGGGAAAGAGCGGGGATCCTAAACTGAATAGTCCACCCTCTCCCAGGGCCACACCCCTGGGGTCCCACGCAAGGGAAAGGGGAGAAGGTGGAAAAACTGAAGGGAGTGGGGGTGGGGCAAGGGTGATTACCAGTGGCTTCATTGTAGTAAACATTGATTCTCTCCAGCTGCAAATCACTGTCTCCATGGTAACTGCCAGTGGGGTCAATCCCATGCTCATCACTGATGACCTCCCAAAACTGAGACAGAAAGGCTGCATTTAGCCATGAACGATGCCCCCAGAAACGCCAAGGCTCACAATGAAATGTCCCCGACTCAGTTCCGACAACCCAACATTTCAGGAGCTTGAAGCTTTAAAGGGCGTCGTGACCCGGGCACAGCCGCGGGGCTTGTATTTTGCAGGTTCAGAAAGTTGAAACTGGGCGTTTCCCAGGCAAACAGCTGCCGCTCGCGGGGGGAGGTAGGGGTCGAGGGGGTAAGGACCAGCCAAAGCCGGGCAGTGGCGGAGCTTGGCGCACTGGTCGCAGCCCCAGGCTGCGGCAGGAGGCGAGGGCACAGGGACTGCAGCCCGCCAGGAGCGGGTGGGCGGGGAAAGAGGAACGCAAAGGAGCTAAAGGACCGCGGTTTTAGATTCAAAGCACGTCCTGAGACCGCAAGACAATCGCTCTCCTCCCCTCCCCCGGCAGCTCGACTCCGGTTCAAGCGAGTACAATTAATCCTCCTGGTGTCCCAGCCCCTCGCGCGGAGCGCCGCGCACAGCCTCGCGGACACACCCTCGTCTTCTCCAGGCACGCGTGCCTGCCAAGCAGCCAGCGCGGAGGGAGGCCGAGGGGGTGACGGGGACTCCAAATGAGTTACAGCAGAAAGAAAGAGAGGTGCCCCCTCCGTCCGCGAAAGTCACCTCCTAGCCCAGGCCACACTCGGCGGCACAAAGCGGCCAGGAAGGTCTGCATTTGGCGATCCCCAGGCCTTCCCAGGACCGCGCCTGGGGACCCCGAGGGGCTCTCGGCCCAGGTTCGCGCCCCCATTGGACCCCCTCCGCTGCGGCGCGCCCACCTTGGCGCCGATCTGGTTGCCGCACTGGCCCGCCTGGATGTGCACGATCTCACTCATGGTGCCTCGTCAGCGTCCTCCTGGTCCGGCGGCGTCTGGGTCTGTCCGTCCTCCCCTCACACACCCACTGCGGGGTCACCGGGAAGGCGCTCGGGAACCGACGGGCTGAGAGCGCCGGCCCCGCGGGCTCCGGCTTTTATGCAAGGAGGGTGGGGCGGCCGGCACAGGCCGCGCCCCCAGCCCGAGCCCCCCAGTCCCCTTCGCGCTGGCGCTCTCCAGGCCCGGCTGACGTAATGCTCCGAGCCCTAGGGACCGTCCGGGGGGCTGGACCACCGGCCCGCGGCCAATCAGAGCGGGCGTGCCGACCGGGAGAGGGGTGGGGGCTACCGGGAGTATGGTGGGGGCGTGCGCATTGTCTGGGGCTGTGGTGGGGGTCTGGGTATGGGGATATGGGGGAACAGTGAAGAAAAGGAGGGTGAGAGGGCGGCGAGGCGAGGGCCACCAGCGCGTCCTGACCGGGGTGGGGGCAGAGCTGGCACCGGATGGGAACGATGGAGGACTGGAGCATGTGGAGAAGCCGTCAGGTGCTCCAGTGCCGGCAGGTGGGAGGGCTGAGGTGGCACAGGCTGCTCCGCCACCTCGGACTGCGGCTCCTACTCGGCCACTGGCCAGAGTCCCTCCAGCCAACTGCCCCTGGTGAGACCACCGTCTTTTTCCTCAACCCTGGAGGCCAGCGACTGCCCAGGCGGCGCTCCGTCTCACAGAGGCCTGGGGGAGGACAGGTGGCCCCAGAAGGAAGTCGTGCTTGATGGCAACCGGGACACCTGCGGCCCATGAACACCAGCGCGGCCTCCGCCCCCGCCCCAGCGTGGGCCTGCTTTCTCCTTTGTCTGTCTTGGGCTGGTAGCTCCTCTCACTGCGCCGCAGCATCTAGGGGTGAAGCGACCTCGGAGCCCCTCAGCCCTGCCCGACCCTCTCCGGGAGTGCATAACGCCCCTGCTGGTACCCAGGAGCCCTCTGCCCCGGGGGTTGACTTTTGTTGCTCGCTAGTGATGGAGTGGGAGTGGCCGGTGGCGCTGCACTGACCGTCCGGAGGGCAGAAAGAGGGTGGGGTCCCGGGGGCGGGGCTGTCGGCGGAACAAAGGGCTCTCAGAAACGTGGGATACGCTGTGTAACCCAGTATTTAAAACCACACGACAGGCGCCCCACCCCCCCACCCCGCCCTCGGATTCAGTTCATCTATTGTCAAGTAAGAGGGTGGGTTCCAAGGGTGGCCCAAGCCCGAGTAACAAACTTTCTTATCTTCCATCGCGGCGACCTGGAGGTCCGAGGCTTCGTGCTGCGGTTGAAGGGTGGGGAATACGACTAAAAACTGCAGCCCAGCGCGCGCGAGACGACCCAAGACCCACGCGCACTCGCACGAGCGCGTGCACAGACTTGGAGCACAGACCCTCCCTTCAGATCCGCAGTCTCTAGGTACTGAGGCAGGAACTGGTCTCTTTGTTACTTTTCGCGCGCGCGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAAAGAGAGAGAGAGAGAGACTAATCCTGCGTGCGTTTGAGGGCGGGAGGGGAAAGGGTGTCAGAAACGTTCACTGCACAACCTGTTCCCTGCAATTCGATGACTGAAGCGCGCCGCCCCACACTTCGGAAGGGCCGTTGGCGAGGTGACGTGACCTCTTTCATCCCCTGGCGAGAAAGGCCGAATGACCCGGGCGCACGCGGCGGAGCTCAGCCTGCAGCTGTTGAGCGAGACCCTCCCAGAACTATCAGCAAGCTGTCATCGCCTCCCTTTCCCGCTGTGGGGTGGAGGGTGGGGGGTTCAAGTCGATTCCAATGTACAAAGAGAAGTAGCGAGAACAAAAGCCCAGGCGCCCCCAAACATCCAGGGCGCCCAGACTGGAGCTCGCCGGCCGGTATTCCAGACCCGGCCGGCGTGCCCGGGTGAGGGTGGGGTCTACCGAGAGGCAGAGAGCAGCGGAGGGTCTGTCCACATGCCCTGCTCTCCCGGTACCAAGGTCTCGGGGCCTGACCTCCGAGTTTCTAATCCAGATCCTGCAGATGCCGAAACGTCGA
Task1_train_9974
The variant affects gene LYRM4, LYRM4-AS1 (LYR motif containing 4| LYRM4 antisense RNA 1), which is on Chromosome 6. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Combined oxidative phosphorylation deficiency 19
TAGGGGCAGGGGCACCCGGAGGACAGGTCAGAAGGCTGCTACAGCAGCCAGTTACAGAGAACAGTGTGCAAGAATACAGACTCTCCACCTTGCCATAGGCTGTTAGTCCAAAGGCAACTTACGCCAGCTTGCAGCCAGATGGCCGGGGGAGCCACTGTGCCTTACGCCCTAACTACTGTAAAGGCTGCATGTGGATTCAGGAAGAGTCTTGACATGAAAGGGAAGTGAGTAGAAACTTCCCAGCTGCTGCTGTCTAACTGGTTCTCTGAAGGGATGAGAATGCTTTCATCCCTGAGGTGGTGACAGCAAGCTGTTCTGCAAGGTCGCCGTGTGTATTCTCCATCGGGAACGTGCAGTGGCCAGGCTGCCCTGGGGAGGGCGCCCTTGCCCTGCACATGCCACTGCTCCAGTGCGTCTGTCCTGGGAGGGGAACTCACTGGGATGTCAGATGAGGGCCAGTTTAGTATTTTTTTTTTTTTGCAAGGGTAGTTTGAGCATTTCAAACCAAGAAGTGACACAGACAATTAGATATAGCGGGAGAAATGATGGCACAGATTATTTACAATCCCCCTTTTCTAGGCAGTTTATACTCTGGATAATTTTACGCTAAAGATAAAACCTGCCTGTTTTGCCAACCTCTACACAGAGTAAGTGCCAAAGAACAAAATCTTTCTGAGTTTATGCAAAGTAAGAACTCAGCTGCTTGTTCTTCTATGCTCCACTGCTAAAGGACCTCATAAAATTCAACTACTGGTGACTGGAAATGCCATTGTTCTAGAGTTTTCAAAATGCTGACTCATATAAATGCCACTCTCAAAGTATACATAAATGTGCAGATCAGTTTCTTTTCTGAGTACCTTACTATCCTCATGGCTTTAGTTAGAGATCATTTCCTAGGCCTGTCTGAGTGTGGCAGTTACTGTATTACTAAATAGCTGTAGAACTCAAGGATGGTTAGGAGAATCCGAAATGCTATTCTAGAAAGAACTGTTACATTATGTAGGCAATATAACAAGACCTTTAATCTTGACATAAACTGCAAATTATAGTTTCAAATATTGCTTCTTTTTTGAATTCTTTTTAGAGTCAAGCATGAAGAAGGGTCAGGGAAAGATTATTATCTAATTTAATGTCAGCCAAGCTGGCATCTCTTGATGCTAAAGAAGCCCTTTCAAAACAGCACAGCATAACTTACAAAAATGGTAAAGAGTTTCCCCCTCCACACTTTATAAGCAAATTTCCTGCAAGTAAAAGGGAAACACGAATGGAAGCAGAAATGGAGTTTATTGCGTGATTGCTGCTAAGTCAAAGAAAAACAGTGAAAAGGGTGTTTTTTAGAGAGCAAGAAAACCCATCAGTGGACGGTGACTTTAACCTCTGACGTTCTAATTACTCTTGCGGATGTTATCAGACCACGCAGGAGATCATGCCGCTGCACATGCTCCACCCACCTCATGAGAATGAGAAAAGGAAGCACAAGTCAAGGTGATCCTTGGCACTTCCACAAAACGAAAACTAACACACCCTCCAGGTTCCTTTATGGGGTCAGCACCCAAGCAGCTGTACTTTACACCATCTGCACCTGCAGATGCACCTCCCATGTGGCAACGTAATTCAGGTTCACCACCCACAATGGTGTCTTCAAGAAAAGGGCCACGTTCTGTTTATCCTGAATTATGATTAAAAATACTAGGAAAGGGAGAATATATTTATACTCTGAAATATATCCAAGTACACATGTGCGATACATCTTACAAAAACTTAGCTTTCAAAAAAATTAATGCAGAAGTTTCTCATACTTAAAAGTATCAGCTTTCCAGAAGGATACACTCCCTGGAAATTCCGGAAAGCTGGTATTTTAAGTTCAACTTGAATCTGAAAATATGAGAGTTCACCTTTACATGTCTGTATTAGTACAAGGAACAGAGTTTCATGATCCTGCTCTGTAAATCACCAACACCAAAAGCACGGCTGTCTAATCAAGGGGAATATGTCGAAGTTTAAAGCTCTTAATGAAAAACAGTACATCATTGAACCATCTTACCTGTCGACGAATTACTCCAAGGTCTCTCTTGGCTTTATTCACTAGGGTTTGAATTTCTACAGGATCCTTTACATTTTTATTTTCTCTGAAGGCATCTCTTATCCTCCTGACAGCATATGTTCTAAATGAATTCAGAGGAAAAAAAAGAAAAGGTGTCAGCGTGTCTGAGGCTATGCTTTCAAATGAATTTTAAAGTTTTTCCTTTAGAATTAACTGTTTAATCTTCCCCTACGGATAATCCACTTTGATCTTTGCTCGTGGCGCAGGCTGATCCACTACCATTCTGGGATGACTAAGCAAACAGATTTAGGAAAATAAATCTACTCAACAAGTCACATACAAATGGCAAACTGCTACTGAAGTGTTCCTTAGATTATTGGTTCTTTAGCCTTATTCACATCTGGCTTCATTCCATTTACATGGATAATTGAACCTTTAGTGTACAGAGACAAATCAAGAACTCAGAGGTTAGCGGCAGTGAACCATGATGGTGCTACTGCACTTCAGCCTGGGCGACAATGCGAGACCCTGTCTTAAAAGAAAGGAAGAAAAAATTCAGAGGTTACATGACGATCGTATTTGCATGTACCCAGATAGTGACCTATGCTTTCCAGTCCTTGTCCCATATTCTGGCTCTCACTTCCCTTTCTGTTGTCCACATTAGGATCCCACCACAGTTGAACCTGTGGAATTAGGCCAACACGCTTTCTTTACCTCCATCTTGAAAGTGCACACGCCTACCACCCACCCCCAACCAGACAGCTCACTTGCAGTACAGGACAGCAGTTCCAGAGCAAGGCTTGCCCATCGGACAGGCTTGGGTTTGTAGCCTTGCTCCAGCTTCTACTGTTTGTGTGAACTTGGGCAAGCTTCTTAACACAAGGCCGTGTCTCCTCATCTGTCAAAAAGGCATAATACTGCTAAAGGCTGCTGGGAGGACTAGGCTTTATAATGTGTGTCTGGAATTTGGCCCAAAGCCTGTTACATAGAAAGACTCAATAAATGAAAGCTATTCTTCTTAACACTTGTTATGCCTTAATGCAATTACTGTTCCCTCTCCTCATGCCATAACCTTGCCTTCATCCTGCATCCTTACAGTCACACCATAGTGTGTGTACAGAAGGTAGAGTGGTGTGGATAATTAGCCACAACAGACAGCTCAGCAGTCCTTAGACACAGCCTCATACTCAGATGGCTATGGCCTATCTCTAGCTCTACCCCAACTACTCCAGATTGAAAGGCATAAGACTAAGGAGAAGCAGACTGAGCCAGGCATGTGAGACACCATTTTCTCTATGTTTTTTTTTTCTTTTTTAGAGATGGGGTGTCCCTCTGTTGCCCAGGCAGTGTCATGATCATAGCTCACTGCAATTGCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCAAAGTGGCCAGGATTATAAGCACCCACCACCACGCCTGGCTAATTAAAAAAAATTTTGGGGGATGGGGACTTGCTGCGTTGCCCAGGCTGGTCTTAAACTCCTGGGCTCAAGCTATCCTCCTGCCTTAGCATCTCAAGGAGCTAGGATTACAAGCACACACCACAGTGCCTGGCTCTCTCGTCTTCTTAATGATCACAGACTGCTCTGCTTTTAACTTGGAGCACCGGTTAAAGAATCCATGTGATGCCAGTAGTAATATTTAGCAACAGAAGAATGGAAATACAGGCAAAGAAATGAGAGGAGGGGATATAAATTTCCTTGGGAGCAGCGCGGAGGGGGTGTTGGGAGCTCATATAACTTATTGGGAAACTTTATCTTAAAAAGGACAAATTGTTTCAGATAAAGTTTTTTAAAGTAAAAAGGCATTTTACATTAAAAAATTCAAATGTCAGGTCTATTTGCATTTAAAAGCAAGAGTAAAACTAAATCTTATGATACTAGGAATCATAAAGGAGAAGGGAAGAGTTTAGGAACCGGTACTTAGAATGTAAGACACTGCTGAGACTTTGATCTTAACCCTCTGTGAACCAGCTGGAGTATTTCAGAGGAGCTGCTGAGCGCTCAGTATCAATCCTAA
TAGGGGCAGGGGCACCCGGAGGACAGGTCAGAAGGCTGCTACAGCAGCCAGTTACAGAGAACAGTGTGCAAGAATACAGACTCTCCACCTTGCCATAGGCTGTTAGTCCAAAGGCAACTTACGCCAGCTTGCAGCCAGATGGCCGGGGGAGCCACTGTGCCTTACGCCCTAACTACTGTAAAGGCTGCATGTGGATTCAGGAAGAGTCTTGACATGAAAGGGAAGTGAGTAGAAACTTCCCAGCTGCTGCTGTCTAACTGGTTCTCTGAAGGGATGAGAATGCTTTCATCCCTGAGGTGGTGACAGCAAGCTGTTCTGCAAGGTCGCCGTGTGTATTCTCCATCGGGAACGTGCAGTGGCCAGGCTGCCCTGGGGAGGGCGCCCTTGCCCTGCACATGCCACTGCTCCAGTGCGTCTGTCCTGGGAGGGGAACTCACTGGGATGTCAGATGAGGGCCAGTTTAGTATTTTTTTTTTTTTGCAAGGGTAGTTTGAGCATTTCAAACCAAGAAGTGACACAGACAATTAGATATAGCGGGAGAAATGATGGCACAGATTATTTACAATCCCCCTTTTCTAGGCAGTTTATACTCTGGATAATTTTACGCTAAAGATAAAACCTGCCTGTTTTGCCAACCTCTACACAGAGTAAGTGCCAAAGAACAAAATCTTTCTGAGTTTATGCAAAGTAAGAACTCAGCTGCTTGTTCTTCTATGCTCCACTGCTAAAGGACCTCATAAAATTCAACTACTGGTGACTGGAAATGCCATTGTTCTAGAGTTTTCAAAATGCTGACTCATATAAATGCCACTCTCAAAGTATACATAAATGTGCAGATCAGTTTCTTTTCTGAGTACCTTACTATCCTCATGGCTTTAGTTAGAGATCATTTCCTAGGCCTGTCTGAGTGTGGCAGTTACTGTATTACTAAATAGCTGTAGAACTCAAGGATGGTTAGGAGAATCCGAAATGCTATTCTAGAAAGAACTGTTACATTATGTAGGCAATATAACAAGACCTTTAATCTTGACATAAACTGCAAATTATAGTTTCAAATATTGCTTCTTTTTTGAATTCTTTTTAGAGTCAAGCATGAAGAAGGGTCAGGGAAAGATTATTATCTAATTTAATGTCAGCCAAGCTGGCATCTCTTGATGCTAAAGAAGCCCTTTCAAAACAGCACAGCATAACTTACAAAAATGGTAAAGAGTTTCCCCCTCCACACTTTATAAGCAAATTTCCTGCAAGTAAAAGGGAAACACGAATGGAAGCAGAAATGGAGTTTATTGCGTGATTGCTGCTAAGTCAAAGAAAAACAGTGAAAAGGGTGTTTTTTAGAGAGCAAGAAAACCCATCAGTGGACGGTGACTTTAACCTCTGACGTTCTAATTACTCTTGCGGATGTTATCAGACCACGCAGGAGATCATGCCGCTGCACATGCTCCACCCACCTCATGAGAATGAGAAAAGGAAGCACAAGTCAAGGTGATCCTTGGCACTTCCACAAAACGAAAACTAACACACCCTCCAGGTTCCTTTATGGGGTCAGCACCCAAGCAGCTGTACTTTACACCATCTGCACCTGCAGATGCACCTCCCATGTGGCAACGTAATTCAGGTTCACCACCCACAATGGTGTCTTCAAGAAAAGGGCCACGTTCTGTTTATCCTGAATTATGATTAAAAATACTAGGAAAGGGAGAATATATTTATACTCTGAAATATATCCAAGTACACATGTGCGATACATCTTACAAAAACTTAGCTTTCAAAAAAATTAATGCAGAAGTTTCTCATACTTAAAAGTATCAGCTTTCCAGAAGGATACACTCCCTGGAAATTCCGGAAAGCTGGTATTTTAAGTTCAACTTGAATCTGAAAATATGAGAGTTCACCTTTACATGTCTGTATTAGTACAAGGAACAGAGTTTCATGATCCTGCTCTGTAAATCACCAACACCAAAAGCACGGCTGTCTAATCAAGGGGAATATGTCGAAGTTTAAAGCTCTTAATGAAAAACAGTACATCATTGAACCATCTTACCTGTAGACGAATTACTCCAAGGTCTCTCTTGGCTTTATTCACTAGGGTTTGAATTTCTACAGGATCCTTTACATTTTTATTTTCTCTGAAGGCATCTCTTATCCTCCTGACAGCATATGTTCTAAATGAATTCAGAGGAAAAAAAAGAAAAGGTGTCAGCGTGTCTGAGGCTATGCTTTCAAATGAATTTTAAAGTTTTTCCTTTAGAATTAACTGTTTAATCTTCCCCTACGGATAATCCACTTTGATCTTTGCTCGTGGCGCAGGCTGATCCACTACCATTCTGGGATGACTAAGCAAACAGATTTAGGAAAATAAATCTACTCAACAAGTCACATACAAATGGCAAACTGCTACTGAAGTGTTCCTTAGATTATTGGTTCTTTAGCCTTATTCACATCTGGCTTCATTCCATTTACATGGATAATTGAACCTTTAGTGTACAGAGACAAATCAAGAACTCAGAGGTTAGCGGCAGTGAACCATGATGGTGCTACTGCACTTCAGCCTGGGCGACAATGCGAGACCCTGTCTTAAAAGAAAGGAAGAAAAAATTCAGAGGTTACATGACGATCGTATTTGCATGTACCCAGATAGTGACCTATGCTTTCCAGTCCTTGTCCCATATTCTGGCTCTCACTTCCCTTTCTGTTGTCCACATTAGGATCCCACCACAGTTGAACCTGTGGAATTAGGCCAACACGCTTTCTTTACCTCCATCTTGAAAGTGCACACGCCTACCACCCACCCCCAACCAGACAGCTCACTTGCAGTACAGGACAGCAGTTCCAGAGCAAGGCTTGCCCATCGGACAGGCTTGGGTTTGTAGCCTTGCTCCAGCTTCTACTGTTTGTGTGAACTTGGGCAAGCTTCTTAACACAAGGCCGTGTCTCCTCATCTGTCAAAAAGGCATAATACTGCTAAAGGCTGCTGGGAGGACTAGGCTTTATAATGTGTGTCTGGAATTTGGCCCAAAGCCTGTTACATAGAAAGACTCAATAAATGAAAGCTATTCTTCTTAACACTTGTTATGCCTTAATGCAATTACTGTTCCCTCTCCTCATGCCATAACCTTGCCTTCATCCTGCATCCTTACAGTCACACCATAGTGTGTGTACAGAAGGTAGAGTGGTGTGGATAATTAGCCACAACAGACAGCTCAGCAGTCCTTAGACACAGCCTCATACTCAGATGGCTATGGCCTATCTCTAGCTCTACCCCAACTACTCCAGATTGAAAGGCATAAGACTAAGGAGAAGCAGACTGAGCCAGGCATGTGAGACACCATTTTCTCTATGTTTTTTTTTTCTTTTTTAGAGATGGGGTGTCCCTCTGTTGCCCAGGCAGTGTCATGATCATAGCTCACTGCAATTGCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCAAAGTGGCCAGGATTATAAGCACCCACCACCACGCCTGGCTAATTAAAAAAAATTTTGGGGGATGGGGACTTGCTGCGTTGCCCAGGCTGGTCTTAAACTCCTGGGCTCAAGCTATCCTCCTGCCTTAGCATCTCAAGGAGCTAGGATTACAAGCACACACCACAGTGCCTGGCTCTCTCGTCTTCTTAATGATCACAGACTGCTCTGCTTTTAACTTGGAGCACCGGTTAAAGAATCCATGTGATGCCAGTAGTAATATTTAGCAACAGAAGAATGGAAATACAGGCAAAGAAATGAGAGGAGGGGATATAAATTTCCTTGGGAGCAGCGCGGAGGGGGTGTTGGGAGCTCATATAACTTATTGGGAAACTTTATCTTAAAAAGGACAAATTGTTTCAGATAAAGTTTTTTAAAGTAAAAAGGCATTTTACATTAAAAAATTCAAATGTCAGGTCTATTTGCATTTAAAAGCAAGAGTAAAACTAAATCTTATGATACTAGGAATCATAAAGGAGAAGGGAAGAGTTTAGGAACCGGTACTTAGAATGTAAGACACTGCTGAGACTTTGATCTTAACCCTCTGTGAACCAGCTGGAGTATTTCAGAGGAGCTGCTGAGCGCTCAGTATCAATCCTAA
Task1_train_9975
Gene FARS2, LOC126859565 (phenylalanyl-tRNA synthetase 2, mitochondrial| CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:5368745-5369944) on Chromosome 6 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Combined oxidative phosphorylation defect type 14
TGCCTTTGGGAGGAAGAAAGCTTTTCTTGTGTTTTGGCAAGGGTGCTGAGCTAGGTAGCTAATAACCTAACAGTTTGATTTTGTGCCAAGATGTGTAAGGCTGCATATGCATGTTTAAAATTCATATCCACTGCAGTGACAAGTCACTGAACACTAGATGGGAAGACATTTCAGTTGAAGCTCAGCCAAAAGCCCTTTTGAAACAACTCTGACAAAATAACGCCATAAGTGAATAAAACCAGAGAGTTCCTGGGTATCTTTGAAAATGTCTCCCATGATGACAGTCTCAGACAAAGGTGCTGTGCACAGCTTCTAAGAAGCAATCACACACAAGCACAGCCATTCAACTTGCAGCTAGATTTCCTCAGTTCCAATTTGGAGTCAGGTGGATTGTGTTGTCCAGGGACAGACTGTGCTTTTGATAGTGACTTGGAACAATATAATTCTTTGCTAATGCAGCTTCATATCATGAAGTTACATATTTTCTTGGTATGATTGCACGGCCCTTGAAGTAAAACAGCCACATAGTTGTATGCTTTAAAATAGCCCGGTAGGGAAGAATTCCACATTTTAGAAGATGGATTTTTATAATTTAAGTTTGTGAATGTAAATTATTTGTGAACAATGGGATGTGACATCTCAAGACTCTCCTTATTGGGATCCCTGAGTGAGTTTAAAACTGGCTTCTGTGGCAGTGGGAAGAAGACACTGTGTGAGTGGTTCACAGCCCTTTGCGGTTGTCTTATTGAACTCTTTCAATACCTTAGAGTTTTGCCAGTTATACTTAGGTCCTTCTCACCTCATCCGTGACTTGAACCGCCTATACTAGATGACAGCTGAGGTGACTTTCAGCTGTAAAGTTTGGCATTTTATTTACTTAAAAATCTAGGTCAGTGCTCTGCCTTCTGGCTGCTCTGTCACTCTTCCCCAACAAGTTTAGTCCTGTTTCTGGTTAATTGTGGGTGTGTAGTAGAAATTTGCCCTTTTGCCAAAGGTGTAATTGAGAGGATGCCACAAAGGTATTAAGTTTAAGTGACATGACCAGATGTGAGAAGATTTGCATTTACAGCTGTCCATTGATATAGTCTATCACTTTGTACAATATTTCCTGAGATTTTCTATTTTATCTTTAAAATATTAAAGTTAACCACAATCTAAAGTGGTGTATTTTGTTTAAAACTTTTTAAAAAAATTAGTAATGTCACTTTGTGATCTAGTGAAGTAATACAGAAGTTATGCTATGTCAAAGATAAAGAGAACTCTGTAGTTATGAGGATGGTCGGCAGAAATGTGAAGGATGGCTCTTAAATCTCTTCTCTTCCACTCTCCTTCGGAAGCCTCTGTCTAATCATTTGCTTCCTTTATTAGTGGGACCCTTAATAGGGTCCAATTAAGTTCTGTATTTTAGGGGATCTCTCTGAAGTTTTTTGGTTCTATAATGTAAAGGTTGTCGTGTTTACAGTTTTTTTCCACATCACGAGTTCAGGACATGATAACATAATAAACGAGGTTTTCTACAAAGCCAAGGATCTGAATGACAAAGGAAGGACAACTAGAGATTAGGGATATAAAAGTGACTTCCAGGAATCTTTTCATTTAGTGTATTAAGTATCACATGTCTGTCAGATTTCTTTAATTGGCTCTTTCAGCTGTGTGGAGGTCGTAGTGGGGGAAACATGCCAGTAGGACAAGAGGGAGCTGGTGGGAGATGCAAAGAACACACTTGCTTTCCACAGAGTGACACCTGACTTGTGCTTTGCCTGTGTGCTCTTTCCAGAACCTGTGAGAAGTTTCTACAATGGTGGGCTCAGCTCTCAGGAGAGGTGCCCATGCATATGTCTACCTGGTGAGTAAGGCCAGTCACATCTCCAGAGGCCATCAGCACCAGGCCTGGGGATCGAGGCCTCCTGCAGCAGAGTGTGCCACCCAAAGAGCTCCAGGCAGTGTGGTGGAGCTGCTGGGCAAATCCTACCCTCAGGACGACCACAGCAACCTCACCCGGAAGGTCCTCACCAGAGTTGGCAGGAACCTGCACAACCAGCAGCATCACCCTCTGTGGCTGATCAAGGAGAGGGTGAAGGAGCACTTCTACAAGCAGTATGTGGGCCGCTTTGGGACCCCGTTGTTCTCGGTCTACGACAACCTTTCTCCAGTGGTCACGACCTGGCAGAACTTTGACAGCCTGCTCATCCCAGCTGATCACCCCAGCAGGAAGAAGGGGGACAACTATTACCTGAATCGGACTCACATGCTGAGAGCGCACACGTCTGCACACCAGTGGGACTTGCTGCACGCGGGACTGGATGCCTTCCTGGTGGTGGGTGATGTCTACAGGCGTGACCAGATCGACTCCCAGCACTACCCTATTTTCCACCAGCTGGAGGCCGTGCGGCTCTTCTCCAAGCATGAGGTGAGTCTTGAGATGTTTCTCATCGCTGAAGGATGTCATAGACATTTTATGTTGAGGTCACTAACATTTAGCTCGATGAGACCAGCATAGTCATCCTTGCTTGCCTTATTTTGCCTTAGTGAATCATCCATACTTAATGACATCTTGTGTATAGGTGTGCCCCAGTACTTTTTGACCGCTTTGTTGTGTTAGTAACTACAGAAATTGGTAAGCCTTAGTTTCCAGTTGTCTGTCCTTATCCTTTCTCTCAATACTGACCCGCCATTCTCTGGGTTACTTCTTATGAATGGAGAATAGTCTGTGGCTCAAATTCACCTTTAATCCAGGATGGCTGAAGGTGCAACATGGAAACCTGTGGTCAGGTCATTCTTAATTCTGTTAGGAGAAGTAAATTATATTTTCTTGCTGTTAGAGAGAAATGAATTTCTTAGGTACCTTAGGGGCCTGATGATTTATTGGCTTGGGCTGTAAACTGTGTCTTGTCCCCAGGCACTTTCCTCACCCTCCCTGGCTTTGCATGTTGCTGTGAGATGTCTTAATTGCTGTGGGATGTCTTAATTGCTGCTATTCTTGAAGCATGTGTTAGGATGATGCATGGAGCCTTTTCCCAACTCCTTGCGTCTGTTAGATGTTATCCTAATATGTTGTGTGCATCTGTTAGATGTTATCCTAATACGTTGTGTGCATCTTTTTTTGTTGTTTTTTTTTTTGCAAATTCTGAAATCCCTAAAAGCTTGATTCCATTTCCTAAAAACTTGCCATACCACTTGTCCCTCACTCATGTTTTAAAAACCATCTCTGTTTTTATATAAGAAACAAATGCGTTAAACTAAGCACAGGGTGTATTTCATTTTACTTCCTTAGCAATGTCCCTTCCAGACATGTTCACTGGAACAGGAGGAATTATTATCGTCACAAAACTCTCTCCTGCCAACGTAAGCTAAATGAGTTATTAATATGAAAACAAATAGTATAGCATCCTTAGGCCAATAGGTAACCATTGTTCTGTTGTATTCTATAAGTCCTATAGCAGGAGATAACTGAACAGGACTGCCCTCCCCTTCTCTCCTTTTTCTTTCTGTTTACCTCTGGATGTGCTGTTCTTTTGCGACTCTGTGATAATACAGTAATAGCTTAGCCTTACACAAAAAGGCCATCCGTGCTGGATCTCGGGGGATCTCAAATGAGCATTCTCACTACTTGGAATAGCTGACTATTTTCCAAGTTAGGAAAAATAATGATTAATAAGGATATAGATTTATTAGGGAACTAATATGAGATGAATAAAGACAGGTCAAAATCTGGGAAATATGACCAAGTGATAGAATGTCATTTAAAATTAATGTACAAGAGGAGCTGTGATGCCAGTAATATGACGTCCAGGTCACAGTAGCAGACAGGTGCTCAGCCCAGCTTACCTCATTAAAGAAATAAGAAAGGACTGTGTGCTCTGATTTGTAAGCCTGCATGCCATGAAAGAGGCAATGAAGGCTGCCAGGCACTTCTAGCATTTTAATGGAGGGAAAATCAAGGCTGCCACAGAAGATGGGAAATAGGAAGTGGATAGGAAATTAGCCTTCACCTTGTTTCATATTTGTTTTGGGTCCAGTCCAATTTGGTAGTTAGTACAAATTACTAATCTAAACTGATGATGCTACTATATATTCTGCGTATAGTTAAAAAATT
TGCCTTTGGGAGGAAGAAAGCTTTTCTTGTGTTTTGGCAAGGGTGCTGAGCTAGGTAGCTAATAACCTAACAGTTTGATTTTGTGCCAAGATGTGTAAGGCTGCATATGCATGTTTAAAATTCATATCCACTGCAGTGACAAGTCACTGAACACTAGATGGGAAGACATTTCAGTTGAAGCTCAGCCAAAAGCCCTTTTGAAACAACTCTGACAAAATAACGCCATAAGTGAATAAAACCAGAGAGTTCCTGGGTATCTTTGAAAATGTCTCCCATGATGACAGTCTCAGACAAAGGTGCTGTGCACAGCTTCTAAGAAGCAATCACACACAAGCACAGCCATTCAACTTGCAGCTAGATTTCCTCAGTTCCAATTTGGAGTCAGGTGGATTGTGTTGTCCAGGGACAGACTGTGCTTTTGATAGTGACTTGGAACAATATAATTCTTTGCTAATGCAGCTTCATATCATGAAGTTACATATTTTCTTGGTATGATTGCACGGCCCTTGAAGTAAAACAGCCACATAGTTGTATGCTTTAAAATAGCCCGGTAGGGAAGAATTCCACATTTTAGAAGATGGATTTTTATAATTTAAGTTTGTGAATGTAAATTATTTGTGAACAATGGGATGTGACATCTCAAGACTCTCCTTATTGGGATCCCTGAGTGAGTTTAAAACTGGCTTCTGTGGCAGTGGGAAGAAGACACTGTGTGAGTGGTTCACAGCCCTTTGCGGTTGTCTTATTGAACTCTTTCAATACCTTAGAGTTTTGCCAGTTATACTTAGGTCCTTCTCACCTCATCCGTGACTTGAACCGCCTATACTAGATGACAGCTGAGGTGACTTTCAGCTGTAAAGTTTGGCATTTTATTTACTTAAAAATCTAGGTCAGTGCTCTGCCTTCTGGCTGCTCTGTCACTCTTCCCCAACAAGTTTAGTCCTGTTTCTGGTTAATTGTGGGTGTGTAGTAGAAATTTGCCCTTTTGCCAAAGGTGTAATTGAGAGGATGCCACAAAGGTATTAAGTTTAAGTGACATGACCAGATGTGAGAAGATTTGCATTTACAGCTGTCCATTGATATAGTCTATCACTTTGTACAATATTTCCTGAGATTTTCTATTTTATCTTTAAAATATTAAAGTTAACCACAATCTAAAGTGGTGTATTTTGTTTAAAACTTTTTAAAAAAATTAGTAATGTCACTTTGTGATCTAGTGAAGTAATACAGAAGTTATGCTATGTCAAAGATAAAGAGAACTCTGTAGTTATGAGGATGGTCGGCAGAAATGTGAAGGATGGCTCTTAAATCTCTTCTCTTCCACTCTCCTTCGGAAGCCTCTGTCTAATCATTTGCTTCCTTTATTAGTGGGACCCTTAATAGGGTCCAATTAAGTTCTGTATTTTAGGGGATCTCTCTGAAGTTTTTTGGTTCTATAATGTAAAGGTTGTCGTGTTTACAGTTTTTTTCCACATCACGAGTTCAGGACATGATAACATAATAAACGAGGTTTTCTACAAAGCCAAGGATCTGAATGACAAAGGAAGGACAACTAGAGATTAGGGATATAAAAGTGACTTCCAGGAATCTTTTCATTTAGTGTATTAAGTATCACATGTCTGTCAGATTTCTTTAATTGGCTCTTTCAGCTGTGTGGAGGTCGTAGTGGGGGAAACATGCCAGTAGGACAAGAGGGAGCTGGTGGGAGATGCAAAGAACACACTTGCTTTCCACAGAGTGACACCTGACTTGTGCTTTGCCTGTGTGCTCTTTCCAGAACCTGTGAGAAGTTTCTACAATGGTGGGCTCAGCTCTCAGGAGAGGTGCCCATGCATATGTCTACCTGGTGAGTAAGGCCAGTCACATCTCCAGAGGCCATCAGCACCAGGCCTGGGGATCGAGGCCTCCTGCAGCAGAGTGTGCCACCCAAAGAGCTCCAGGCAGTGTGGTGGAGCTGCTGGGCAAATCCTACCCTCAGGACGACCACAGCAACCTCACCCGGAAGGTCCTCACCAGAGTTGGCAGGAACCTGCACAACCAGCAGCATCCCCCTCTGTGGCTGATCAAGGAGAGGGTGAAGGAGCACTTCTACAAGCAGTATGTGGGCCGCTTTGGGACCCCGTTGTTCTCGGTCTACGACAACCTTTCTCCAGTGGTCACGACCTGGCAGAACTTTGACAGCCTGCTCATCCCAGCTGATCACCCCAGCAGGAAGAAGGGGGACAACTATTACCTGAATCGGACTCACATGCTGAGAGCGCACACGTCTGCACACCAGTGGGACTTGCTGCACGCGGGACTGGATGCCTTCCTGGTGGTGGGTGATGTCTACAGGCGTGACCAGATCGACTCCCAGCACTACCCTATTTTCCACCAGCTGGAGGCCGTGCGGCTCTTCTCCAAGCATGAGGTGAGTCTTGAGATGTTTCTCATCGCTGAAGGATGTCATAGACATTTTATGTTGAGGTCACTAACATTTAGCTCGATGAGACCAGCATAGTCATCCTTGCTTGCCTTATTTTGCCTTAGTGAATCATCCATACTTAATGACATCTTGTGTATAGGTGTGCCCCAGTACTTTTTGACCGCTTTGTTGTGTTAGTAACTACAGAAATTGGTAAGCCTTAGTTTCCAGTTGTCTGTCCTTATCCTTTCTCTCAATACTGACCCGCCATTCTCTGGGTTACTTCTTATGAATGGAGAATAGTCTGTGGCTCAAATTCACCTTTAATCCAGGATGGCTGAAGGTGCAACATGGAAACCTGTGGTCAGGTCATTCTTAATTCTGTTAGGAGAAGTAAATTATATTTTCTTGCTGTTAGAGAGAAATGAATTTCTTAGGTACCTTAGGGGCCTGATGATTTATTGGCTTGGGCTGTAAACTGTGTCTTGTCCCCAGGCACTTTCCTCACCCTCCCTGGCTTTGCATGTTGCTGTGAGATGTCTTAATTGCTGTGGGATGTCTTAATTGCTGCTATTCTTGAAGCATGTGTTAGGATGATGCATGGAGCCTTTTCCCAACTCCTTGCGTCTGTTAGATGTTATCCTAATATGTTGTGTGCATCTGTTAGATGTTATCCTAATACGTTGTGTGCATCTTTTTTTGTTGTTTTTTTTTTTGCAAATTCTGAAATCCCTAAAAGCTTGATTCCATTTCCTAAAAACTTGCCATACCACTTGTCCCTCACTCATGTTTTAAAAACCATCTCTGTTTTTATATAAGAAACAAATGCGTTAAACTAAGCACAGGGTGTATTTCATTTTACTTCCTTAGCAATGTCCCTTCCAGACATGTTCACTGGAACAGGAGGAATTATTATCGTCACAAAACTCTCTCCTGCCAACGTAAGCTAAATGAGTTATTAATATGAAAACAAATAGTATAGCATCCTTAGGCCAATAGGTAACCATTGTTCTGTTGTATTCTATAAGTCCTATAGCAGGAGATAACTGAACAGGACTGCCCTCCCCTTCTCTCCTTTTTCTTTCTGTTTACCTCTGGATGTGCTGTTCTTTTGCGACTCTGTGATAATACAGTAATAGCTTAGCCTTACACAAAAAGGCCATCCGTGCTGGATCTCGGGGGATCTCAAATGAGCATTCTCACTACTTGGAATAGCTGACTATTTTCCAAGTTAGGAAAAATAATGATTAATAAGGATATAGATTTATTAGGGAACTAATATGAGATGAATAAAGACAGGTCAAAATCTGGGAAATATGACCAAGTGATAGAATGTCATTTAAAATTAATGTACAAGAGGAGCTGTGATGCCAGTAATATGACGTCCAGGTCACAGTAGCAGACAGGTGCTCAGCCCAGCTTACCTCATTAAAGAAATAAGAAAGGACTGTGTGCTCTGATTTGTAAGCCTGCATGCCATGAAAGAGGCAATGAAGGCTGCCAGGCACTTCTAGCATTTTAATGGAGGGAAAATCAAGGCTGCCACAGAAGATGGGAAATAGGAAGTGGATAGGAAATTAGCCTTCACCTTGTTTCATATTTGTTTTGGGTCCAGTCCAATTTGGTAGTTAGTACAAATTACTAATCTAAACTGATGATGCTACTATATATTCTGCGTATAGTTAAAAAATT
Task1_train_9976
Gene FARS2, LOC126859565 (phenylalanyl-tRNA synthetase 2, mitochondrial| CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:5368745-5369944) on Chromosome 6 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Hereditary spastic paraplegia 77
GTTGAAGCTCAGCCAAAAGCCCTTTTGAAACAACTCTGACAAAATAACGCCATAAGTGAATAAAACCAGAGAGTTCCTGGGTATCTTTGAAAATGTCTCCCATGATGACAGTCTCAGACAAAGGTGCTGTGCACAGCTTCTAAGAAGCAATCACACACAAGCACAGCCATTCAACTTGCAGCTAGATTTCCTCAGTTCCAATTTGGAGTCAGGTGGATTGTGTTGTCCAGGGACAGACTGTGCTTTTGATAGTGACTTGGAACAATATAATTCTTTGCTAATGCAGCTTCATATCATGAAGTTACATATTTTCTTGGTATGATTGCACGGCCCTTGAAGTAAAACAGCCACATAGTTGTATGCTTTAAAATAGCCCGGTAGGGAAGAATTCCACATTTTAGAAGATGGATTTTTATAATTTAAGTTTGTGAATGTAAATTATTTGTGAACAATGGGATGTGACATCTCAAGACTCTCCTTATTGGGATCCCTGAGTGAGTTTAAAACTGGCTTCTGTGGCAGTGGGAAGAAGACACTGTGTGAGTGGTTCACAGCCCTTTGCGGTTGTCTTATTGAACTCTTTCAATACCTTAGAGTTTTGCCAGTTATACTTAGGTCCTTCTCACCTCATCCGTGACTTGAACCGCCTATACTAGATGACAGCTGAGGTGACTTTCAGCTGTAAAGTTTGGCATTTTATTTACTTAAAAATCTAGGTCAGTGCTCTGCCTTCTGGCTGCTCTGTCACTCTTCCCCAACAAGTTTAGTCCTGTTTCTGGTTAATTGTGGGTGTGTAGTAGAAATTTGCCCTTTTGCCAAAGGTGTAATTGAGAGGATGCCACAAAGGTATTAAGTTTAAGTGACATGACCAGATGTGAGAAGATTTGCATTTACAGCTGTCCATTGATATAGTCTATCACTTTGTACAATATTTCCTGAGATTTTCTATTTTATCTTTAAAATATTAAAGTTAACCACAATCTAAAGTGGTGTATTTTGTTTAAAACTTTTTAAAAAAATTAGTAATGTCACTTTGTGATCTAGTGAAGTAATACAGAAGTTATGCTATGTCAAAGATAAAGAGAACTCTGTAGTTATGAGGATGGTCGGCAGAAATGTGAAGGATGGCTCTTAAATCTCTTCTCTTCCACTCTCCTTCGGAAGCCTCTGTCTAATCATTTGCTTCCTTTATTAGTGGGACCCTTAATAGGGTCCAATTAAGTTCTGTATTTTAGGGGATCTCTCTGAAGTTTTTTGGTTCTATAATGTAAAGGTTGTCGTGTTTACAGTTTTTTTCCACATCACGAGTTCAGGACATGATAACATAATAAACGAGGTTTTCTACAAAGCCAAGGATCTGAATGACAAAGGAAGGACAACTAGAGATTAGGGATATAAAAGTGACTTCCAGGAATCTTTTCATTTAGTGTATTAAGTATCACATGTCTGTCAGATTTCTTTAATTGGCTCTTTCAGCTGTGTGGAGGTCGTAGTGGGGGAAACATGCCAGTAGGACAAGAGGGAGCTGGTGGGAGATGCAAAGAACACACTTGCTTTCCACAGAGTGACACCTGACTTGTGCTTTGCCTGTGTGCTCTTTCCAGAACCTGTGAGAAGTTTCTACAATGGTGGGCTCAGCTCTCAGGAGAGGTGCCCATGCATATGTCTACCTGGTGAGTAAGGCCAGTCACATCTCCAGAGGCCATCAGCACCAGGCCTGGGGATCGAGGCCTCCTGCAGCAGAGTGTGCCACCCAAAGAGCTCCAGGCAGTGTGGTGGAGCTGCTGGGCAAATCCTACCCTCAGGACGACCACAGCAACCTCACCCGGAAGGTCCTCACCAGAGTTGGCAGGAACCTGCACAACCAGCAGCATCACCCTCTGTGGCTGATCAAGGAGAGGGTGAAGGAGCACTTCTACAAGCAGTATGTGGGCCGCTTTGGGACCCCGTTGTTCTCGGTCTACGACAACCTTTCTCCAGTGGTCACGACCTGGCAGAACTTTGACAGCCTGCTCATCCCAGCTGATCACCCCAGCAGGAAGAAGGGGGACAACTATTACCTGAATCGGACTCACATGCTGAGAGCGCACACGTCTGCACACCAGTGGGACTTGCTGCACGCGGGACTGGATGCCTTCCTGGTGGTGGGTGATGTCTACAGGCGTGACCAGATCGACTCCCAGCACTACCCTATTTTCCACCAGCTGGAGGCCGTGCGGCTCTTCTCCAAGCATGAGGTGAGTCTTGAGATGTTTCTCATCGCTGAAGGATGTCATAGACATTTTATGTTGAGGTCACTAACATTTAGCTCGATGAGACCAGCATAGTCATCCTTGCTTGCCTTATTTTGCCTTAGTGAATCATCCATACTTAATGACATCTTGTGTATAGGTGTGCCCCAGTACTTTTTGACCGCTTTGTTGTGTTAGTAACTACAGAAATTGGTAAGCCTTAGTTTCCAGTTGTCTGTCCTTATCCTTTCTCTCAATACTGACCCGCCATTCTCTGGGTTACTTCTTATGAATGGAGAATAGTCTGTGGCTCAAATTCACCTTTAATCCAGGATGGCTGAAGGTGCAACATGGAAACCTGTGGTCAGGTCATTCTTAATTCTGTTAGGAGAAGTAAATTATATTTTCTTGCTGTTAGAGAGAAATGAATTTCTTAGGTACCTTAGGGGCCTGATGATTTATTGGCTTGGGCTGTAAACTGTGTCTTGTCCCCAGGCACTTTCCTCACCCTCCCTGGCTTTGCATGTTGCTGTGAGATGTCTTAATTGCTGTGGGATGTCTTAATTGCTGCTATTCTTGAAGCATGTGTTAGGATGATGCATGGAGCCTTTTCCCAACTCCTTGCGTCTGTTAGATGTTATCCTAATATGTTGTGTGCATCTGTTAGATGTTATCCTAATACGTTGTGTGCATCTTTTTTTGTTGTTTTTTTTTTTGCAAATTCTGAAATCCCTAAAAGCTTGATTCCATTTCCTAAAAACTTGCCATACCACTTGTCCCTCACTCATGTTTTAAAAACCATCTCTGTTTTTATATAAGAAACAAATGCGTTAAACTAAGCACAGGGTGTATTTCATTTTACTTCCTTAGCAATGTCCCTTCCAGACATGTTCACTGGAACAGGAGGAATTATTATCGTCACAAAACTCTCTCCTGCCAACGTAAGCTAAATGAGTTATTAATATGAAAACAAATAGTATAGCATCCTTAGGCCAATAGGTAACCATTGTTCTGTTGTATTCTATAAGTCCTATAGCAGGAGATAACTGAACAGGACTGCCCTCCCCTTCTCTCCTTTTTCTTTCTGTTTACCTCTGGATGTGCTGTTCTTTTGCGACTCTGTGATAATACAGTAATAGCTTAGCCTTACACAAAAAGGCCATCCGTGCTGGATCTCGGGGGATCTCAAATGAGCATTCTCACTACTTGGAATAGCTGACTATTTTCCAAGTTAGGAAAAATAATGATTAATAAGGATATAGATTTATTAGGGAACTAATATGAGATGAATAAAGACAGGTCAAAATCTGGGAAATATGACCAAGTGATAGAATGTCATTTAAAATTAATGTACAAGAGGAGCTGTGATGCCAGTAATATGACGTCCAGGTCACAGTAGCAGACAGGTGCTCAGCCCAGCTTACCTCATTAAAGAAATAAGAAAGGACTGTGTGCTCTGATTTGTAAGCCTGCATGCCATGAAAGAGGCAATGAAGGCTGCCAGGCACTTCTAGCATTTTAATGGAGGGAAAATCAAGGCTGCCACAGAAGATGGGAAATAGGAAGTGGATAGGAAATTAGCCTTCACCTTGTTTCATATTTGTTTTGGGTCCAGTCCAATTTGGTAGTTAGTACAAATTACTAATCTAAACTGATGATGCTACTATATATTCTGCGTATAGTTAAAAAATTATGCTCATGTGTATGTATGTATCTAATCTTCTTATATAAGGTGCATCTGTGTTCATTGCTTCGTTTACTCCTCTTAATAAAAACCTCGCAAGGTAGATCATTTTGACTTCAGCCATGAGGAATGAGGTCCCGAAAGGTTTAGTGACTTACCCAAAGTTGCTGAAGCAGTTAGT
GTTGAAGCTCAGCCAAAAGCCCTTTTGAAACAACTCTGACAAAATAACGCCATAAGTGAATAAAACCAGAGAGTTCCTGGGTATCTTTGAAAATGTCTCCCATGATGACAGTCTCAGACAAAGGTGCTGTGCACAGCTTCTAAGAAGCAATCACACACAAGCACAGCCATTCAACTTGCAGCTAGATTTCCTCAGTTCCAATTTGGAGTCAGGTGGATTGTGTTGTCCAGGGACAGACTGTGCTTTTGATAGTGACTTGGAACAATATAATTCTTTGCTAATGCAGCTTCATATCATGAAGTTACATATTTTCTTGGTATGATTGCACGGCCCTTGAAGTAAAACAGCCACATAGTTGTATGCTTTAAAATAGCCCGGTAGGGAAGAATTCCACATTTTAGAAGATGGATTTTTATAATTTAAGTTTGTGAATGTAAATTATTTGTGAACAATGGGATGTGACATCTCAAGACTCTCCTTATTGGGATCCCTGAGTGAGTTTAAAACTGGCTTCTGTGGCAGTGGGAAGAAGACACTGTGTGAGTGGTTCACAGCCCTTTGCGGTTGTCTTATTGAACTCTTTCAATACCTTAGAGTTTTGCCAGTTATACTTAGGTCCTTCTCACCTCATCCGTGACTTGAACCGCCTATACTAGATGACAGCTGAGGTGACTTTCAGCTGTAAAGTTTGGCATTTTATTTACTTAAAAATCTAGGTCAGTGCTCTGCCTTCTGGCTGCTCTGTCACTCTTCCCCAACAAGTTTAGTCCTGTTTCTGGTTAATTGTGGGTGTGTAGTAGAAATTTGCCCTTTTGCCAAAGGTGTAATTGAGAGGATGCCACAAAGGTATTAAGTTTAAGTGACATGACCAGATGTGAGAAGATTTGCATTTACAGCTGTCCATTGATATAGTCTATCACTTTGTACAATATTTCCTGAGATTTTCTATTTTATCTTTAAAATATTAAAGTTAACCACAATCTAAAGTGGTGTATTTTGTTTAAAACTTTTTAAAAAAATTAGTAATGTCACTTTGTGATCTAGTGAAGTAATACAGAAGTTATGCTATGTCAAAGATAAAGAGAACTCTGTAGTTATGAGGATGGTCGGCAGAAATGTGAAGGATGGCTCTTAAATCTCTTCTCTTCCACTCTCCTTCGGAAGCCTCTGTCTAATCATTTGCTTCCTTTATTAGTGGGACCCTTAATAGGGTCCAATTAAGTTCTGTATTTTAGGGGATCTCTCTGAAGTTTTTTGGTTCTATAATGTAAAGGTTGTCGTGTTTACAGTTTTTTTCCACATCACGAGTTCAGGACATGATAACATAATAAACGAGGTTTTCTACAAAGCCAAGGATCTGAATGACAAAGGAAGGACAACTAGAGATTAGGGATATAAAAGTGACTTCCAGGAATCTTTTCATTTAGTGTATTAAGTATCACATGTCTGTCAGATTTCTTTAATTGGCTCTTTCAGCTGTGTGGAGGTCGTAGTGGGGGAAACATGCCAGTAGGACAAGAGGGAGCTGGTGGGAGATGCAAAGAACACACTTGCTTTCCACAGAGTGACACCTGACTTGTGCTTTGCCTGTGTGCTCTTTCCAGAACCTGTGAGAAGTTTCTACAATGGTGGGCTCAGCTCTCAGGAGAGGTGCCCATGCATATGTCTACCTGGTGAGTAAGGCCAGTCACATCTCCAGAGGCCATCAGCACCAGGCCTGGGGATCGAGGCCTCCTGCAGCAGAGTGTGCCACCCAAAGAGCTCCAGGCAGTGTGGTGGAGCTGCTGGGCAAATCCTACCCTCAGGACGACCACAGCAACCTCACCCGGAAGGTCCTCACCAGAGTTGGCAGGAACCTGCACAACCAGCAGCATCACCCTCTGTGGCTGATCAAGGAGAGGGTGAAGGAGCACTTCTACAAGCAGTATGTGGGCCGCTTTGGGACCCCGTTGTTCTCGGTCTACGACAACCTTTCTCCAGTGGTCACGACCTGGCAGAACTTTGACAGCCTGCTCATCCCAGCTGATCACCCCAGCAGGAAGAAGGGGTACAACTATTACCTGAATCGGACTCACATGCTGAGAGCGCACACGTCTGCACACCAGTGGGACTTGCTGCACGCGGGACTGGATGCCTTCCTGGTGGTGGGTGATGTCTACAGGCGTGACCAGATCGACTCCCAGCACTACCCTATTTTCCACCAGCTGGAGGCCGTGCGGCTCTTCTCCAAGCATGAGGTGAGTCTTGAGATGTTTCTCATCGCTGAAGGATGTCATAGACATTTTATGTTGAGGTCACTAACATTTAGCTCGATGAGACCAGCATAGTCATCCTTGCTTGCCTTATTTTGCCTTAGTGAATCATCCATACTTAATGACATCTTGTGTATAGGTGTGCCCCAGTACTTTTTGACCGCTTTGTTGTGTTAGTAACTACAGAAATTGGTAAGCCTTAGTTTCCAGTTGTCTGTCCTTATCCTTTCTCTCAATACTGACCCGCCATTCTCTGGGTTACTTCTTATGAATGGAGAATAGTCTGTGGCTCAAATTCACCTTTAATCCAGGATGGCTGAAGGTGCAACATGGAAACCTGTGGTCAGGTCATTCTTAATTCTGTTAGGAGAAGTAAATTATATTTTCTTGCTGTTAGAGAGAAATGAATTTCTTAGGTACCTTAGGGGCCTGATGATTTATTGGCTTGGGCTGTAAACTGTGTCTTGTCCCCAGGCACTTTCCTCACCCTCCCTGGCTTTGCATGTTGCTGTGAGATGTCTTAATTGCTGTGGGATGTCTTAATTGCTGCTATTCTTGAAGCATGTGTTAGGATGATGCATGGAGCCTTTTCCCAACTCCTTGCGTCTGTTAGATGTTATCCTAATATGTTGTGTGCATCTGTTAGATGTTATCCTAATACGTTGTGTGCATCTTTTTTTGTTGTTTTTTTTTTTGCAAATTCTGAAATCCCTAAAAGCTTGATTCCATTTCCTAAAAACTTGCCATACCACTTGTCCCTCACTCATGTTTTAAAAACCATCTCTGTTTTTATATAAGAAACAAATGCGTTAAACTAAGCACAGGGTGTATTTCATTTTACTTCCTTAGCAATGTCCCTTCCAGACATGTTCACTGGAACAGGAGGAATTATTATCGTCACAAAACTCTCTCCTGCCAACGTAAGCTAAATGAGTTATTAATATGAAAACAAATAGTATAGCATCCTTAGGCCAATAGGTAACCATTGTTCTGTTGTATTCTATAAGTCCTATAGCAGGAGATAACTGAACAGGACTGCCCTCCCCTTCTCTCCTTTTTCTTTCTGTTTACCTCTGGATGTGCTGTTCTTTTGCGACTCTGTGATAATACAGTAATAGCTTAGCCTTACACAAAAAGGCCATCCGTGCTGGATCTCGGGGGATCTCAAATGAGCATTCTCACTACTTGGAATAGCTGACTATTTTCCAAGTTAGGAAAAATAATGATTAATAAGGATATAGATTTATTAGGGAACTAATATGAGATGAATAAAGACAGGTCAAAATCTGGGAAATATGACCAAGTGATAGAATGTCATTTAAAATTAATGTACAAGAGGAGCTGTGATGCCAGTAATATGACGTCCAGGTCACAGTAGCAGACAGGTGCTCAGCCCAGCTTACCTCATTAAAGAAATAAGAAAGGACTGTGTGCTCTGATTTGTAAGCCTGCATGCCATGAAAGAGGCAATGAAGGCTGCCAGGCACTTCTAGCATTTTAATGGAGGGAAAATCAAGGCTGCCACAGAAGATGGGAAATAGGAAGTGGATAGGAAATTAGCCTTCACCTTGTTTCATATTTGTTTTGGGTCCAGTCCAATTTGGTAGTTAGTACAAATTACTAATCTAAACTGATGATGCTACTATATATTCTGCGTATAGTTAAAAAATTATGCTCATGTGTATGTATGTATCTAATCTTCTTATATAAGGTGCATCTGTGTTCATTGCTTCGTTTACTCCTCTTAATAAAAACCTCGCAAGGTAGATCATTTTGACTTCAGCCATGAGGAATGAGGTCCCGAAAGGTTTAGTGACTTACCCAAAGTTGCTGAAGCAGTTAGT
Task1_train_9977
Here’s a variant in FARS2 (phenylalanyl-tRNA synthetase 2, mitochondrial) located on Chromosome 6. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Combined oxidative phosphorylation defect type 14
GTGCAAGAGAAGGATAGGGTGCAGTAATGGGATTGATGGAGTCTGTGAGGATACCAAGTGAACAGGGTGGCTGAGGGCCAGAAGTGAGGTAGGGAGGGTGGGAAATTTTATATGGAGAAAGCCACTTAGTGTGTTTAAGAAACCCAGTAGGCTGGGCTGGCCTGAACCTACAGAACGTCGGAAAGAGGTAGAAGCTTTTAGGAATTGGAGGCTTTCTCCTGGGGCAGTGGGGAGCCACAGGATGGTTTTTACCACCACCGCTGGTTAAGCACCTAAAAGAAAGCCCACATCTCAGTAACCATGATCTGTAGTTAGCCTCTTATTTCCCAACAAAATCGTATGTCTCCCATTCAAAAAAACAAAGGCCACTAGTAGATATCCCATGTCCGATACCTACCTATTAGTGGATTAAATGCTTTCTTTTCCGTTAAACCATTAAACTTTTTATATTTTTTAGCTTGAAATAGGCTTGCAATATAATAAGCTGTCTGGGTTTTTCTTTTAAACTGCATGGATTTTAAACTGTATTTACCACAATGTATATTTTAATAATGTCTTGGGGCATGTGTTCTGGCTGCCTGCGTTATTATCATATTGACTGTTGTCCATGAATTGTTGACACGTGTTTCATTGGGACACCTTCTGCCATTTCTCTGTCACCGTGCCTGGCATCAGAACTCAGGAAGTGTGGTACCTCAGCTTGGATTAATTGAAGAGGAGATTCCATGCTAATTCTTGGCAATCTCAGTCTCTTATCTCCCTAAATTTCCATTTTCCATAAGGAACAAAAGGGAAAACAACCTGTGTAACCACCAAACTCCTGTCATCTATTGTTACATTAACTCATGGGTCATTTGTCACAGCAGTGTGACTTCAGGAGAGAAAACAAAACGCTTCTCAGGAACCAATATATTTTGTCAACAGCACCCGGATGCTAACTATCGTGTTTGTATGAAATGTGTGTTCTAAACTGATGCATTTGTTTGACAACTTTATTGATATTTCAAGTTGGATAATCATTTATGTTTGAGCATTTAGTTCTTCAGATACTTTGCCATTTAAAAGCTTTATACTTTCTCTGATCAATGATTCACCAAAGGGTTTGTAGCAATGTCAGGCTTGGCATAAATTAGTTTGTAAATTTGCCCTTCTAAAAGATGTTTGGATTTAGCAGATATTTCCTTAGGATTTCATAGTTATGTAACAAAACTTTTTTTATTGCAGCAGTAACTTACAGACCAAAACATACACACATATATCTATGTATAATTTTGATGTATATATGTGAGAGTTATATGTTTAGTTGTGATATATATATATTTGTGTGTGTGTGTGAAAGCAATAAACAAATACAGTAACTTCTAAACATATCTAATTTTAAATGTCTGTCCTATATAATGGTGAACTACTGAGCTAGTAAGCTGGAAAAAATGGAATAAAGTGGGGGAAATGGCTACATTTATGTTTATCACATCCTTAAAGGCATAATTTGAAAAATAATTCCCCAAGGAACTACTTATCAACCCAATCCTTTATTTTAGTAATTAGAAATACTAACAAATAATGACATTACTAATTGAAATATTAATTTTGATAAGCTCTTATTCCTCTACTAAAATGGCTTTCTGAAAGTATCACAAGAAGTTAATGAATTGCATGTTAATTAAATTTGAACTTTTCTCCTCTAGTATTCAAATGGGAAAAACAGAAATATAATACATTCAAATTTCTTTGTACTAAGTTGAACGTTAATGGCAATATAAATATAATATATGGTAATGTTACACATGAATGTGATAAGAATCTGTAATATTCATAATGGAATTTGCTAATTTTGAATATTGATTTGTCTTTTAAGTTCATTTTGTTCTGCAAATTTAGATGCTGAAATGATGTTTTACTAGCATTTCCTAATTAGTCAAGTGCAACTTTTTATGAAAAATTTAAATATTCTCATTCAACTAACAAGTTCATGTATCTTTTCTCCTCTTGTTTTGTTAGCCTCTTAGCAAATATCCGGCTGTGATCAATGATATTTCATTCTGGTTGCCCTCTGAGAATTACGCAGAAAATGATTTCTATGACTTAGTCCGAACAATTGGAGGAGACCTGGTGGAAAAGGTTGATCTCATAGACAAGTTTGTACATCCAAAGTAAGTGAAAAGCTTTCTGATTTTACCCTTGACTATCTCTGTGTGATAAATGTCATGTGGAAGCATATCATAAAATTTGCTGAAACCCAGGGTATCTGAGACAAAATGTCTTCTGAATTTGTAGTGAATGTATAGCTTATCAGAAAACTCTTTGATATCAGTCGTCTCTGAAAATCTTTCCAAGATGCATTTTCCATCTTTCCTGCCTTAGTAAAGAAAATATATGAAACAGAATCTTTTAAAAGTCCTGCAGCTTTTCAGTATTGTTTTTGGAAGTGACTTCTTACCTTAGCATGTTCCAGGTGCAGAGGAAATGGGCAGAAAGAGCAGTTTGTGGAGTAGAAGCTGTTTTGATAGTCTCTCAGCAAATATTTGTTAAGCACTTACCACACGCCAAGATCTATATTACGTCCTAGGAATTAAATGTGTTCCAAACAGACTTAGCTCTGCCTTCTTGGAACTTATAGTCTTGTGAGAGAGGCAGACGTTAAATACATAATTATGAAAGCATGCTATTATGAGGGAAAAATGCATTGGGTGTCATCAAAAAACTAATTTCATGTGGGGAGTCAGGGCAGGCCACTTTGAGACATGGAAGCTGAGAACAGAAGGATGATGGGCAGTGAAGAAAGAAGAAGGAGCATCGCAGATAGCACATGGGAGTCCTGGGGGGAAAAGGGCACATGAGATGCAGAAGGCAGCCAAGAACACGGCAGCTCAAGGACCAAGGGGGAGGCTGTGTAAAGTGATGATTGTTGGGTAGTGATGTGTTTCCAGGGCCAGGTGGGCCTGGAACCTGCAAGGTCTCAGACTTGGAATTTTACCCTAATTGTAGTGGGAAGCTATAGAAGGATAGGAGCAGAGAGATAAGTGACGTGATTTGATTTGCATTTCTGACTGGTCACCTTTAAATGGTCCCCTTTGGCTCCTAGCTGTTAGAGAAGAAACAGTCACCAAATCCTGTCTAATTCACACCTCCATTTTCCCTTCCCCGCCTGATTGTTCCAGGTGTGTCATATCTAAATTGTCAGGGCTCCTGGCTCCCACGTTATATCCTGTCATTCAGACTCCCACCTGTTTCCTTCTTTGTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGATGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCTGCTACGGCCCCCGGCTAATTTTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCGTGGTCTCCATCTCCTGACCTCATGATCCGCCCGCCTGGGCCTCCCAAAGTGCTGTGATTACAGGCGTGAGCCATCGCGCTGGGCTGCCTTCTTTGTCTTTTAAAGCATTCATTCTCTAGATAAAGATGTTCAGTGTTCACTGCCAATTGTTTTGCCTCCCTTTCCCCAATTATCTAAATGACTGAAGTTCATCATCTAGAATTTTGCTCAACAACTTGTGGAAACAATAGTCCCTGAGCTCTCGCATGTTCAAAACTGTTTATCTGTTTATACTTGAATAACAGTTTGGTTGGAAGTAAAATCTTGGCTTGGTCTTTCTTTTTGGGAGGATCTTGTAAGTGCTGCTCGATTGTCCTCTCAAGTTTAATTTCATATAAAGAAATCTGATGCCATACTTGATCTTTTTGCTTTTTGTTTTAAAGGATTCCTTCTTTATCTTTCAAGTTTATTATCTTTATCAGGCTCCACCTCAGTATTGATCTTTTCTCCCTAGTATATATCATTGTGTTTCACAAATTGGATTGGACTCTTATTTATTTTAGGAAAATTTTCTTGAATTATATCTTTAGGGATTTGTTCTGATCCATTGTTCTGTTCTGTTTCATTCTTCAGGGATCCAGTTATGCATAAGTAGGCTCTCCTTTGTCTGA
GTGCAAGAGAAGGATAGGGTGCAGTAATGGGATTGATGGAGTCTGTGAGGATACCAAGTGAACAGGGTGGCTGAGGGCCAGAAGTGAGGTAGGGAGGGTGGGAAATTTTATATGGAGAAAGCCACTTAGTGTGTTTAAGAAACCCAGTAGGCTGGGCTGGCCTGAACCTACAGAACGTCGGAAAGAGGTAGAAGCTTTTAGGAATTGGAGGCTTTCTCCTGGGGCAGTGGGGAGCCACAGGATGGTTTTTACCACCACCGCTGGTTAAGCACCTAAAAGAAAGCCCACATCTCAGTAACCATGATCTGTAGTTAGCCTCTTATTTCCCAACAAAATCGTATGTCTCCCATTCAAAAAAACAAAGGCCACTAGTAGATATCCCATGTCCGATACCTACCTATTAGTGGATTAAATGCTTTCTTTTCCGTTAAACCATTAAACTTTTTATATTTTTTAGCTTGAAATAGGCTTGCAATATAATAAGCTGTCTGGGTTTTTCTTTTAAACTGCATGGATTTTAAACTGTATTTACCACAATGTATATTTTAATAATGTCTTGGGGCATGTGTTCTGGCTGCCTGCGTTATTATCATATTGACTGTTGTCCATGAATTGTTGACACGTGTTTCATTGGGACACCTTCTGCCATTTCTCTGTCACCGTGCCTGGCATCAGAACTCAGGAAGTGTGGTACCTCAGCTTGGATTAATTGAAGAGGAGATTCCATGCTAATTCTTGGCAATCTCAGTCTCTTATCTCCCTAAATTTCCATTTTCCATAAGGAACAAAAGGGAAAACAACCTGTGTAACCACCAAACTCCTGTCATCTATTGTTACATTAACTCATGGGTCATTTGTCACAGCAGTGTGACTTCAGGAGAGAAAACAAAACGCTTCTCAGGAACCAATATATTTTGTCAACAGCACCCGGATGCTAACTATCGTGTTTGTATGAAATGTGTGTTCTAAACTGATGCATTTGTTTGACAACTTTATTGATATTTCAAGTTGGATAATCATTTATGTTTGAGCATTTAGTTCTTCAGATACTTTGCCATTTAAAAGCTTTATACTTTCTCTGATCAATGATTCACCAAAGGGTTTGTAGCAATGTCAGGCTTGGCATAAATTAGTTTGTAAATTTGCCCTTCTAAAAGATGTTTGGATTTAGCAGATATTTCCTTAGGATTTCATAGTTATGTAACAAAACTTTTTTTATTGCAGCAGTAACTTACAGACCAAAACATACACACATATATCTATGTATAATTTTGATGTATATATGTGAGAGTTATATGTTTAGTTGTGATATATATATATTTGTGTGTGTGTGTGAAAGCAATAAACAAATACAGTAACTTCTAAACATATCTAATTTTAAATGTCTGTCCTATATAATGGTGAACTACTGAGCTAGTAAGCTGGAAAAAATGGAATAAAGTGGGGGAAATGGCTACATTTATGTTTATCACATCCTTAAAGGCATAATTTGAAAAATAATTCCCCAAGGAACTACTTATCAACCCAATCCTTTATTTTAGTAATTAGAAATACTAACAAATAATGACATTACTAATTGAAATATTAATTTTGATAAGCTCTTATTCCTCTACTAAAATGGCTTTCTGAAAGTATCACAAGAAGTTAATGAATTGCATGTTAATTAAATTTGAACTTTTCTCCTCTAGTATTCAAATGGGAAAAACAGAAATATAATACATTCAAATTTCTTTGTACTAAGTTGAACGTTAATGGCAATATAAATATAATATATGGTAATGTTACACATGAATGTGATAAGAATCTGTAATATTCATAATGGAATTTGCTAATTTTGAATATTGATTTGTCTTTTAAGTTCATTTTGTTCTGCAAATTTAGATGCTGAAATGATGTTTTACTAGCATTTCCTAATTAGTCAAGTGCAACTTTTTATGAAAAATTTAAATATTCTCATTCAACTAACAAGTTCATGTATCTTTTCTCCTCTTGTTTTGTTAGCCTCTTAGCAAATATCCGGCTGTGATCAATGATATTTCATTCTGGTTTCCCTCTGAGAATTACGCAGAAAATGATTTCTATGACTTAGTCCGAACAATTGGAGGAGACCTGGTGGAAAAGGTTGATCTCATAGACAAGTTTGTACATCCAAAGTAAGTGAAAAGCTTTCTGATTTTACCCTTGACTATCTCTGTGTGATAAATGTCATGTGGAAGCATATCATAAAATTTGCTGAAACCCAGGGTATCTGAGACAAAATGTCTTCTGAATTTGTAGTGAATGTATAGCTTATCAGAAAACTCTTTGATATCAGTCGTCTCTGAAAATCTTTCCAAGATGCATTTTCCATCTTTCCTGCCTTAGTAAAGAAAATATATGAAACAGAATCTTTTAAAAGTCCTGCAGCTTTTCAGTATTGTTTTTGGAAGTGACTTCTTACCTTAGCATGTTCCAGGTGCAGAGGAAATGGGCAGAAAGAGCAGTTTGTGGAGTAGAAGCTGTTTTGATAGTCTCTCAGCAAATATTTGTTAAGCACTTACCACACGCCAAGATCTATATTACGTCCTAGGAATTAAATGTGTTCCAAACAGACTTAGCTCTGCCTTCTTGGAACTTATAGTCTTGTGAGAGAGGCAGACGTTAAATACATAATTATGAAAGCATGCTATTATGAGGGAAAAATGCATTGGGTGTCATCAAAAAACTAATTTCATGTGGGGAGTCAGGGCAGGCCACTTTGAGACATGGAAGCTGAGAACAGAAGGATGATGGGCAGTGAAGAAAGAAGAAGGAGCATCGCAGATAGCACATGGGAGTCCTGGGGGGAAAAGGGCACATGAGATGCAGAAGGCAGCCAAGAACACGGCAGCTCAAGGACCAAGGGGGAGGCTGTGTAAAGTGATGATTGTTGGGTAGTGATGTGTTTCCAGGGCCAGGTGGGCCTGGAACCTGCAAGGTCTCAGACTTGGAATTTTACCCTAATTGTAGTGGGAAGCTATAGAAGGATAGGAGCAGAGAGATAAGTGACGTGATTTGATTTGCATTTCTGACTGGTCACCTTTAAATGGTCCCCTTTGGCTCCTAGCTGTTAGAGAAGAAACAGTCACCAAATCCTGTCTAATTCACACCTCCATTTTCCCTTCCCCGCCTGATTGTTCCAGGTGTGTCATATCTAAATTGTCAGGGCTCCTGGCTCCCACGTTATATCCTGTCATTCAGACTCCCACCTGTTTCCTTCTTTGTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGATGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCTGCTACGGCCCCCGGCTAATTTTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCGTGGTCTCCATCTCCTGACCTCATGATCCGCCCGCCTGGGCCTCCCAAAGTGCTGTGATTACAGGCGTGAGCCATCGCGCTGGGCTGCCTTCTTTGTCTTTTAAAGCATTCATTCTCTAGATAAAGATGTTCAGTGTTCACTGCCAATTGTTTTGCCTCCCTTTCCCCAATTATCTAAATGACTGAAGTTCATCATCTAGAATTTTGCTCAACAACTTGTGGAAACAATAGTCCCTGAGCTCTCGCATGTTCAAAACTGTTTATCTGTTTATACTTGAATAACAGTTTGGTTGGAAGTAAAATCTTGGCTTGGTCTTTCTTTTTGGGAGGATCTTGTAAGTGCTGCTCGATTGTCCTCTCAAGTTTAATTTCATATAAAGAAATCTGATGCCATACTTGATCTTTTTGCTTTTTGTTTTAAAGGATTCCTTCTTTATCTTTCAAGTTTATTATCTTTATCAGGCTCCACCTCAGTATTGATCTTTTCTCCCTAGTATATATCATTGTGTTTCACAAATTGGATTGGACTCTTATTTATTTTAGGAAAATTTTCTTGAATTATATCTTTAGGGATTTGTTCTGATCCATTGTTCTGTTCTGTTTCATTCTTCAGGGATCCAGTTATGCATAAGTAGGCTCTCCTTTGTCTGA
Task1_train_9978
Gene F13A1 (coagulation factor XIII A chain) on Chromosome 6 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Factor XIII, A subunit, deficiency of
ACAATTGTTCAGTGATGTCTGCCATGAATATAGGATCTCCTATACGTGATTATCATAAGACCATAACATGTGTTCGTTATGCTAGGTCTCCATGCTGGCTATCCACTGATTCACCATAATGGTTCATAAGATTATTTATGAGAAAATATCTACAGAGATTTTATAGTTTCTGGAAGCTGGTTTTTGAACTAATATGCAACTTGATCCTTCAGTGAATATAGTTAATAAAATGTAGAAAGAGAGAGGTGAAGAAAACTGTGACATTAACACCTGTTAGAGTCATTTTCTTTAGAGGATAAATGCTTGTTGTTTTCCTATCCAGGGTGGGTTGTCTACTGCGGAGGAAGGATGGTTTCTCAAGAAGTTGTGATTAGTAGTGTGTTATATTGAAAATTAAAAGCATTCACTTCTGCACAGATGCAAATATAATCAGTTTAACTTTATTTTAAGCTTCTATTACATTGTAATTAATAATAATATACTAAGTTAAGCCAGTTTAACTGTCTAGCAAAATGCATTTCATTTTAAAATTGGATATTGGGAGACTTGGCAAATGCTGTGAGATTACTTAGTAAAGTTAAGTATGATGTATATATAGAGGGGACCAGCTCACCCTCATAGGTTAGTGCTGAAGGCTCAGGAACAGTCTCAAAGGCTTAGAAATGTGGTTATATAGACCAGAGCATTCCATTCTGATTTTGCCCCCAGTATACTTATCACTGTTCATTTTTTGCTAAGAATCACAGTCTACTGACCTAAATCACACCCTAGACATATCAGAGGGAAATTCTGACCATAAATCAGCCTTGCAAATACATAGCAGGCAGCCTTCTCTGTAGTAGCCTTGGAACATAATACAAATGATGTCAGCATCCTCTGTGGTTGGGTCAGAACTAGCACTGGCTATTTGCAAGGCTGAGTCCATATTACCCTTCAGCACCTGAGTGCCAAGCTGAGGTCTCAACATGGGTGATGTGAAGGACAAGAGAGAATCAGTGGCTGCAGTCCTTCTATATATCTGGTCACTAGATCCGCCAGCTTCTTCAACTTGTTGGGCTTATTATATCTCTGAAAGGGGACCTGAACCTGCATCATTCTGCAAAGGAGATGATTCCTGAGAGATGGGTGAAATATAATCACTAACTAAAGAGATAAATTCTTCACTTTACTTCCTAGTATTGCATCCCAGAAAGGGTTAAAGTAAGGGATATTGGCTCCTGCTGATCAGGCCACAGTGTGACACATTCTATAAAATGCATCACAAAACTACATTATTCAATAGACTTGAGTGTTGCACCTGCTTTCTTATCTCCTTGTAGGTGGTTAAGTTTCCCACAAATGCAATTTGTTAATATGGGGCCACCTCTTCTAACAAGGTAAATCTAAAATTTGGCAGGCATTTGCTTGGCTGCAGGTGCAAAATGAAAGATCTTTTTCTGGCTTTGCCAAAAATAAAAATTATGTTGTGCTCTAGTCCTGGGAAAAATATTCTCACATGGAGGGTAGAACCTGACCCCGAGAAAGGGGACTGGAATTCTAGAGCCCAAATCATGTGCTATTATTCCCAAAAGGCTGAGTGGGGAATCTGAAGTCTTGTTTTAAATGAGGCCAGGTATTGAGCAAATCTCCCTGGTAAGAGAGCCCACTGATATTTGGAGATGTAGCCATTTGTGATGATAAATGATGACTGTTACTCTTATGAGCTATGAGAGCTTAATTAAAGCTAATGCTTAGCACTCTTTGGAAGGTGGAGAGATTAAAAACTAACTTCCTTGCCGAATAGCCTGGGTTTGGAAAAGCATGTTTTTGAAATATGTGGGATCTCCACTCTGGAGCCCTCTGCAGTCCTGTCTGGGTCTTCACACCTAAGTCAAAGCAAGAGCTATTTTTGCGTTAGAATTTCCTTAGCCAAGACTACAAGAGGCCAAATGCCAGGGTTCATCTCAGCTTCCTGTGCATTCACATGGAAGGTCGTCTTTGAATCTGCACGTCCAGCTCGCCATACACATGTCTCAGGGAGTCACTGCTCATGCTGGCTATCAGCTTCCGATGCCCAGAGACCCAGGGCCGGCACACTTCTTCCCACTGCACGGTGGAGTTGGGCCGGATTTCACTGAAAGGATGGAAAAGAGAGGAGAGGTTGGAAGATCCAGCTTTCCACTTTGATCAGGAAGCAATGAAAACTCTTGCCTAAGTCACTTGCTTTCTTTCTCTCAGTTGGTGCTTAGGACACTGAAGACTCTCACTGGCTGATTCAGCAAGTTATGCCCCAAATGAGGCCCCCACATAAAGCTCTGCAGAACCTGTCACTGACAGTCTTATTGGGTCATGGTTCCTTCCACTGGGATGCATCCGCCAGCCTCCCAGTGGCCATCAGGAGCTGGGCTGATTCCCATCCAACCATTAATCAACTGAACTCTAGCTTGTCTCCAAGCCCTCCATAGTAGCCTTATCTATGTGACTGATCTTCTGAGCCTCAGCTCAGTTTTTGCCACTAGTTTCCTCCTGGAATTACAGTCCTATATGAATCCCCCAGCTGCCTTTGCTGAGGCCCTGACACTCGAATTAGCTTTTGCCAACTCCCTTGGGATAGACCTTGTTCCCAGGCTCAGCATCTGGAATATAGCCCTGCCTGCTGCCATTTGACTTTGAGAATCTTCATGTTCTGTAATTCAAATTCCTATTTCAACCACCAAATTGGGCCCCTCCACCTATGCAACTTTCTGCTACCATTTGTTGCCAATGCCCTAATGTATGCGGCTAATGACATAGCCTTTCATGGTTCTAGTGTTCTCCTCTTCCTCCCAGCCTTTGCCCTGAAGTCTTCCTGAGTGTCACGAACAAGCCCACATCAGTGCAGACTGAGACTAATCAGGGTTGGTGAGATTTAGTGTTCTCTGGGGTGCTTCACATATAGCCTCCCCTATAAACCTTGGGAGATTATATTCAGGTTTTATATGTATGACAGTTCTTTGAGGCAGATACTATTCAGCAGATTTTATGATCAAGAAAAATGGAAGGTAACCAGTGAAGTCCCTTTTTCAAGATCACATAATTGGTAAATGGGCAGAGATGAAATTTGAACCCGGGTTTTTCTGAGTCCCATATTCATACTCTTTCTGCTCCTCTTCACTGCACTTCATAAAAGTGTACACCATATGTTCTATAAGAAAAGGCTTTTTCTAAGATATTTGCACACACATATTTATAGCAGCACAGTGTGCAATTGCAAAAATATGGAACCAGCCCAAATGCCCATCAATGAGTGAATAAAGAAATTGTGGTATGCATATACCATGGAATACTACTCAGCCATAAAAAGGAATGAAACAATGGAATTCACAGTGACCTAGATGAAACTGGAGACCAGTATTCTAAGTGAAGTAACTCAGGAATGGAAAACCAAACATCCTATGTTCTCACTCATAAGCTGGAGCTAAGCTATGAGGATGCAAAGGCATAACAATGAACAATGACGCAATGGTCTTTGGGGACTCAGGGGAAAGGTGGGAGGGATAAAAGACTACAAAATGGTTACAGTATATACTGCTTAGGTGATGGGTGACCAAATGTCTCAGAAACCACCACCAAAGAACTTATTCATGTAACCAAACACCAACTGTTCCCCAAAAACCTATAGAAATAAAAAAAGAAAAGAAGAAAAGGCTTTTTCTGACCATTGTGCTTACTTTTTCATAGGTTTTATTTCTCAAGCAGGAAAGATACTTTTTGACTTAGTAATAAGAGTGTCCTGGAAGTGTTCATGGAGGATTCATTGAACTCTTTGCAAGATAATTTAGGAAAGTTTCTCCTGCCTGTATGCAGAGAGAAAATTCTCAGTGCTCAATTCAATACCAATATAAGTTTGGGATATTTATTTCTCAACAGCTGTGCTATTGTTACCTGTATCCATTCATTCTCTCTCCTCTGGTTCCCCCAAGTGATCAATCAGAAGCACTTTGTGAAACAGTGGCCCTGGTTAAGGACCCGACCTGAGACCATGTACTGTAGATAACCACCTCAAATAGAAGCTAAGTATTTAGCCCCCTCTTATCATTTTCTCTTACTCATAAAACCATCCGGCATAATGATGTGT
ACAATTGTTCAGTGATGTCTGCCATGAATATAGGATCTCCTATACGTGATTATCATAAGACCATAACATGTGTTCGTTATGCTAGGTCTCCATGCTGGCTATCCACTGATTCACCATAATGGTTCATAAGATTATTTATGAGAAAATATCTACAGAGATTTTATAGTTTCTGGAAGCTGGTTTTTGAACTAATATGCAACTTGATCCTTCAGTGAATATAGTTAATAAAATGTAGAAAGAGAGAGGTGAAGAAAACTGTGACATTAACACCTGTTAGAGTCATTTTCTTTAGAGGATAAATGCTTGTTGTTTTCCTATCCAGGGTGGGTTGTCTACTGCGGAGGAAGGATGGTTTCTCAAGAAGTTGTGATTAGTAGTGTGTTATATTGAAAATTAAAAGCATTCACTTCTGCACAGATGCAAATATAATCAGTTTAACTTTATTTTAAGCTTCTATTACATTGTAATTAATAATAATATACTAAGTTAAGCCAGTTTAACTGTCTAGCAAAATGCATTTCATTTTAAAATTGGATATTGGGAGACTTGGCAAATGCTGTGAGATTACTTAGTAAAGTTAAGTATGATGTATATATAGAGGGGACCAGCTCACCCTCATAGGTTAGTGCTGAAGGCTCAGGAACAGTCTCAAAGGCTTAGAAATGTGGTTATATAGACCAGAGCATTCCATTCTGATTTTGCCCCCAGTATACTTATCACTGTTCATTTTTTGCTAAGAATCACAGTCTACTGACCTAAATCACACCCTAGACATATCAGAGGGAAATTCTGACCATAAATCAGCCTTGCAAATACATAGCAGGCAGCCTTCTCTGTAGTAGCCTTGGAACATAATACAAATGATGTCAGCATCCTCTGTGGTTGGGTCAGAACTAGCACTGGCTATTTGCAAGGCTGAGTCCATATTACCCTTCAGCACCTGAGTGCCAAGCTGAGGTCTCAACATGGGTGATGTGAAGGACAAGAGAGAATCAGTGGCTGCAGTCCTTCTATATATCTGGTCACTAGATCCGCCAGCTTCTTCAACTTGTTGGGCTTATTATATCTCTGAAAGGGGACCTGAACCTGCATCATTCTGCAAAGGAGATGATTCCTGAGAGATGGGTGAAATATAATCACTAACTAAAGAGATAAATTCTTCACTTTACTTCCTAGTATTGCATCCCAGAAAGGGTTAAAGTAAGGGATATTGGCTCCTGCTGATCAGGCCACAGTGTGACACATTCTATAAAATGCATCACAAAACTACATTATTCAATAGACTTGAGTGTTGCACCTGCTTTCTTATCTCCTTGTAGGTGGTTAAGTTTCCCACAAATGCAATTTGTTAATATGGGGCCACCTCTTCTAACAAGGTAAATCTAAAATTTGGCAGGCATTTGCTTGGCTGCAGGTGCAAAATGAAAGATCTTTTTCTGGCTTTGCCAAAAATAAAAATTATGTTGTGCTCTAGTCCTGGGAAAAATATTCTCACATGGAGGGTAGAACCTGACCCCGAGAAAGGGGACTGGAATTCTAGAGCCCAAATCATGTGCTATTATTCCCAAAAGGCTGAGTGGGGAATCTGAAGTCTTGTTTTAAATGAGGCCAGGTATTGAGCAAATCTCCCTGGTAAGAGAGCCCACTGATATTTGGAGATGTAGCCATTTGTGATGATAAATGATGACTGTTACTCTTATGAGCTATGAGAGCTTAATTAAAGCTAATGCTTAGCACTCTTTGGAAGGTGGAGAGATTAAAAACTAACTTCCTTGCCGAATAGCCTGGGTTTGGAAAAGCATGTTTTTGAAATATGTGGGATCTCCACTCTGGAGCCCTCTGCAGTCCTGTCTGGGTCTTCACACCTAAGTCAAAGCAAGAGCTATTTTTGCGTTAGAATTTCCTTAGCCAAGACTACAAGAGGCCAAATGCCAGGGTTCATCTCAGCTTCCTGTGCATTCACATGGAAGGTCGTCTTTGAATCTGCACGTCCAGCTCGCCATACACATGTCTCAGGGAGTCACTGCTCATGCTGGCTATCAGCTTCCAATGCCCAGAGACCCAGGGCCGGCACACTTCTTCCCACTGCACGGTGGAGTTGGGCCGGATTTCACTGAAAGGATGGAAAAGAGAGGAGAGGTTGGAAGATCCAGCTTTCCACTTTGATCAGGAAGCAATGAAAACTCTTGCCTAAGTCACTTGCTTTCTTTCTCTCAGTTGGTGCTTAGGACACTGAAGACTCTCACTGGCTGATTCAGCAAGTTATGCCCCAAATGAGGCCCCCACATAAAGCTCTGCAGAACCTGTCACTGACAGTCTTATTGGGTCATGGTTCCTTCCACTGGGATGCATCCGCCAGCCTCCCAGTGGCCATCAGGAGCTGGGCTGATTCCCATCCAACCATTAATCAACTGAACTCTAGCTTGTCTCCAAGCCCTCCATAGTAGCCTTATCTATGTGACTGATCTTCTGAGCCTCAGCTCAGTTTTTGCCACTAGTTTCCTCCTGGAATTACAGTCCTATATGAATCCCCCAGCTGCCTTTGCTGAGGCCCTGACACTCGAATTAGCTTTTGCCAACTCCCTTGGGATAGACCTTGTTCCCAGGCTCAGCATCTGGAATATAGCCCTGCCTGCTGCCATTTGACTTTGAGAATCTTCATGTTCTGTAATTCAAATTCCTATTTCAACCACCAAATTGGGCCCCTCCACCTATGCAACTTTCTGCTACCATTTGTTGCCAATGCCCTAATGTATGCGGCTAATGACATAGCCTTTCATGGTTCTAGTGTTCTCCTCTTCCTCCCAGCCTTTGCCCTGAAGTCTTCCTGAGTGTCACGAACAAGCCCACATCAGTGCAGACTGAGACTAATCAGGGTTGGTGAGATTTAGTGTTCTCTGGGGTGCTTCACATATAGCCTCCCCTATAAACCTTGGGAGATTATATTCAGGTTTTATATGTATGACAGTTCTTTGAGGCAGATACTATTCAGCAGATTTTATGATCAAGAAAAATGGAAGGTAACCAGTGAAGTCCCTTTTTCAAGATCACATAATTGGTAAATGGGCAGAGATGAAATTTGAACCCGGGTTTTTCTGAGTCCCATATTCATACTCTTTCTGCTCCTCTTCACTGCACTTCATAAAAGTGTACACCATATGTTCTATAAGAAAAGGCTTTTTCTAAGATATTTGCACACACATATTTATAGCAGCACAGTGTGCAATTGCAAAAATATGGAACCAGCCCAAATGCCCATCAATGAGTGAATAAAGAAATTGTGGTATGCATATACCATGGAATACTACTCAGCCATAAAAAGGAATGAAACAATGGAATTCACAGTGACCTAGATGAAACTGGAGACCAGTATTCTAAGTGAAGTAACTCAGGAATGGAAAACCAAACATCCTATGTTCTCACTCATAAGCTGGAGCTAAGCTATGAGGATGCAAAGGCATAACAATGAACAATGACGCAATGGTCTTTGGGGACTCAGGGGAAAGGTGGGAGGGATAAAAGACTACAAAATGGTTACAGTATATACTGCTTAGGTGATGGGTGACCAAATGTCTCAGAAACCACCACCAAAGAACTTATTCATGTAACCAAACACCAACTGTTCCCCAAAAACCTATAGAAATAAAAAAAGAAAAGAAGAAAAGGCTTTTTCTGACCATTGTGCTTACTTTTTCATAGGTTTTATTTCTCAAGCAGGAAAGATACTTTTTGACTTAGTAATAAGAGTGTCCTGGAAGTGTTCATGGAGGATTCATTGAACTCTTTGCAAGATAATTTAGGAAAGTTTCTCCTGCCTGTATGCAGAGAGAAAATTCTCAGTGCTCAATTCAATACCAATATAAGTTTGGGATATTTATTTCTCAACAGCTGTGCTATTGTTACCTGTATCCATTCATTCTCTCTCCTCTGGTTCCCCCAAGTGATCAATCAGAAGCACTTTGTGAAACAGTGGCCCTGGTTAAGGACCCGACCTGAGACCATGTACTGTAGATAACCACCTCAAATAGAAGCTAAGTATTTAGCCCCCTCTTATCATTTTCTCTTACTCATAAAACCATCCGGCATAATGATGTGT
Task1_train_9979
The gene F13A1 (coagulation factor XIII A chain) is located on Chromosome 6, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; not provided
TAGCTCTCTGTCTATCTACTTGTCTGCCTAGACTTACGTGTTGCAGTAACTACTAACAGTACCTTAAGCCAGTGTGTGGGCAGGACATCTGTGTCCAAGAAGGGACTGGCCTTATCCATCCTTTCTCCCGATTCACTCCACTTTGCTCCACTCCAATGTCAGACATTAACAATAAACAAACCATCTGGAGATTTAACCTATTTTGAGCCTGAGGCCTCCCAAATAGTGGGTCATTGCACTGTGTAATAATTCACTGTGTAATAATTCATCTTTTGTCTAAGACACACAGTGTCTTTTTTCATGTGTTGGCCTTGACCAAGGTGGAATTCTAGGGGGATAGCCAAGGTGTAAAGATAGAGAAGTTTCCGGTACACTCAGATAAAGCTTGTGGGTTTACTGTCTGGGAAGGAAAAAGTTGGATACAGCAGGGGGCTGTATGGAAGAGGAAACGTGTTTCACTTTGCCTGAACGATTCTTGCATCTGATTTGAGTGGGAAGGTGCGAGAATGGGTGAGTGAGACTGTCGTTTCTGACGAAAGCAGGGGTATGGCTGCTGACCTCTCTATGTAGCTGGGGTTGATTACTAATTTACTTATTTTTTTTTCCTGTAACTTTCCTGTTAGCACAGGAAGGTTGCTATGTTTTGTGCTTGCGTTGTTTCAAAAGCACTAAGATTATTTTCTCTGTTGTTTATTGCATCTGCAATAAGGCATCTCTTAAATGATGAGATGCAGAAGCTACGAGCATTGTAATTTGAAAGAAATGCGGAGAGCCCTTTATGGGCAATAAAGTTGCCCCAGAGGGTATAAGTGAGGCCTTGCATTTATCCCACAGATTCCAGAGTGGGGTCGCTTCCATAAAGGGTGTCGGGAAAATTCTTGACATATCTGGTCATGAGGCAGTTTCCAAAGTCCTCTACCTCCCTTTCTATGCCTTAGAAGGTCACTCCACAGGAAATGTGCTAGATTGATTGATGCTGACAAGGACTTATTTGTGGTAGAAATGAAAGTAATAAACCTCAAAGATTGGGATCCATTCTGGGTGTCACACTTTAAGAGGAGTAGTGACAAATTGGAATGTGTGGGAGAGAGAGAGAGAGAGCTGAAACCATGTTAGAGGAGAGGGAAATAAAGTCAGGACAGATATTTGTCCCCAGGTAGAAAAGATTCAAGGAAGATGAGACAGCTGTTTGCAAACATTTGCAAACCATCAGATGGAAAAGAGATGGGCCTTACTTTCTGTCAGTCCAGATGGCAGAATTAGGATCATTGGCAGGATCAAATGGTAGAAAAACCTGTTTCCTTACTGTTAGAGCTACCTGACCATGGAATGGGTTATCTTGTTGGGTCACACTCTTTGTTAGTAGAAGTCACAGAAACTGAGACCTGTCAAGCACAATTTGAAGTGGCCTGTGTGTGGAAGAGGCTGAGTTTCATTCATATCATTACAGAACCTGGGGTTGTCTTTGGTCCCCTGAATGGGGAACCATCTAGAGCTCTTTAGGCTCAACTAAAAAAAAACCTGAATCCAACAGTTGTAGACACTGATTGGGATGGTAAAATCTGTGAGGTGAGGCTGGAGACAAAGCACCCATGAAAAGGGGGTATCTCTCAGCATAATATCTGACACGTGGTAGGAGCTCAATAAAGATGAGAAGAGACCATACGTGAGTAGGTAGTACAGCAAAGTGGTTCAAACTTGGGTTCTGGAATTCACCAGCCTGAGTCTGAATCTTGGCTCTGTTTTCATAAACTGTGTAACTGAACCTGTGTAACCAGTCAACCTCTCAAAGCCTCAAATTCCTCAGCTACAGAAGGGAGATAATAGCAGTATCTACATCGTAGGGTGTCTTTAAGGATTAAATGATGAAAGTGCTGGTCAAACCAACCCTAGTTTTACTCCACGCCCTACAGAAATGGTCGGCAAGGAGGAGGCAGCTTCCAAGACATTTTCACTGGGGAGCAGATCTATGTTTGGAAAAGACACACACAGAGAAAGCTTCCCACAGCCCTGCACTGCCTGCCCGGTCTCCCCAACCCAAGGTTTACCGGAACATCTTCTTCATTGGTCTTGTTACTCCAGGACCATCCAGGTGTACCCAGACATTTCGCAGGGTTTCTTTTAAAGGATTGGTAAACTCAACTGTCACAGTCATGTCAGAACCAACTACCTGAGTGCCACGGACCTAAGAGAGAGAATGCAGGTCATTAGCACCAAATAAAACCTCGTTCTGCTCTCTTGTTGTCTTAACCATCATCACTTTTACTAGAGTTTTATGATACAGTTATTTTTTTGGCAATGGAACCAGTGTGATGAGGATAGCTGATTGCTTTGACTGGAGGATACCTATTGAGAAAGAGATGGAAATTTACTAATTAGAATCGCACTCTTTTCCTCATTATAAAACCAGCCTAATTAGAGCTCAGGTCAATAGCGGTGGCCACTGACTGCTCTTTGACAGCAGGAGGGGGAAGTTCATTTGGTGTGGCAACACGTTTCCACGGTGAGGGCGGCCAAGTGAACTTTGCTTCTGGATAGGCATCAAGTTTCCTGCTGGGACAAAGGGGATTCCTGAGTTTAAGAAGTAGAAAATGCTTCAGGGCACATGTGCCTTCTTAGTTTTAGACACATTCGCAAGAAATATGCCAAGGATGGAGTCCTTACTGTTGAACATGAAGAGGAACCTGGATACTAAAATAAGTAAAGGAGATTTTTCTTCTACAGCCACAGTACCAGAGTCCAGGAAAATAAAAGGTTATTTGTTGGTGAGTTGATCTATTATGACTCTCAGAAGTATCAGGTATTTGGAAGAACACCACAGGAGACAGCCAGAGCTCAGTGCCAGGTTCAACACTTATTAACAGTGGGGACTCAGGTGATTTAGGCTTTCTGAGACTCAGTTTTCTTGTCTTTAAAATGGGCTGACACTTTTATGGGGCGATCTATGTAGAATGCTCTTATTATTACTATACCTTAAGCTGTGTTTACTGTATGCCACACACTTTAGAACCATATGCTTTTCCAACATAAACGCAATGTGCCGCAAAATGCCAGGTGGCTATAAGACTTGTTTGTTTGTTTAGGAGCTATGTATACCAAATGAATGGATCTGTATAAGCTCTAAGTAACTTGGGAATAAGATAAGAATAATAGTTCTTCCCTTGCAAGAAAGGTTTGGAATGAAAAATGCTCATAAAACGGCAAACATATTGCAAGGCACATGGCAAAGGCCCAATGCATTACAGTTGATGCTTTTTAGGGTAGCAATGCTCTGGGTAGTTTGTCTTATTCACCTTATATTTCAGCCCACTTTTAACTCCAATACTTAGTACTTCAATACCAATGTCCAGTAAATATTTATTAAATTAAGTCAATGGCTCAAAAATGGAATTTACTGGATGTCTGGATCTTCCAGATGACAACACAGCCATTACTATTCCATGTTCCTTTAGCCACTATATAATATGGGAGAAAATATATGGAAATGAGGCGTTTTTAAGAATGGACGTAAAGAGGAAGGACATTGCCCAGAGAAGAGGACCCTTGCTTACTTATGCTACAGTCAAGAATAAAATCTTCCTGATCTGATCATTACACACTGTATGCATGAATTGAAAAATCACATGTACCCCATAAATATGTACAATTATTATATATCGATTAAAAGAAGAATACACTCTTATGGCTTTACTCATCAAGCCATGCTTTGTGACTAAATTTATGGCTATGGGATTTCTTAAGTCTATAAGAAAAACGAAACTTTCAGCCAACTCCCTAAACTTTGTTACATTTAAATCCGCATCTCCTGGAGGGCAGTGGTGGAGAGCTGGATTCAGGGGAACTAGGAGAGGGGCAGACGATGGTCATGGTAGCAACAACAGCAGGTGCACCTAGACAGCATGGATCGTGTGCCAGGCAGGGAGTCCAGCACTTTAACCAGCAATCCTCAGTCTGGTAATGGGTGGATCCTGTAATTCATTTATTTGAGGCACCCCTGTTGATTACAAAGAACCAGCCCCAGCTGACAACCATAATTCACATATATTCTCACATAAGCCTCACAACACAAGGGCTATATTTGTATCAGCTCGATCAG
TAGCTCTCTGTCTATCTACTTGTCTGCCTAGACTTACGTGTTGCAGTAACTACTAACAGTACCTTAAGCCAGTGTGTGGGCAGGACATCTGTGTCCAAGAAGGGACTGGCCTTATCCATCCTTTCTCCCGATTCACTCCACTTTGCTCCACTCCAATGTCAGACATTAACAATAAACAAACCATCTGGAGATTTAACCTATTTTGAGCCTGAGGCCTCCCAAATAGTGGGTCATTGCACTGTGTAATAATTCACTGTGTAATAATTCATCTTTTGTCTAAGACACACAGTGTCTTTTTTCATGTGTTGGCCTTGACCAAGGTGGAATTCTAGGGGGATAGCCAAGGTGTAAAGATAGAGAAGTTTCCGGTACACTCAGATAAAGCTTGTGGGTTTACTGTCTGGGAAGGAAAAAGTTGGATACAGCAGGGGGCTGTATGGAAGAGGAAACGTGTTTCACTTTGCCTGAACGATTCTTGCATCTGATTTGAGTGGGAAGGTGCGAGAATGGGTGAGTGAGACTGTCGTTTCTGACGAAAGCAGGGGTATGGCTGCTGACCTCTCTATGTAGCTGGGGTTGATTACTAATTTACTTATTTTTTTTTCCTGTAACTTTCCTGTTAGCACAGGAAGGTTGCTATGTTTTGTGCTTGCGTTGTTTCAAAAGCACTAAGATTATTTTCTCTGTTGTTTATTGCATCTGCAATAAGGCATCTCTTAAATGATGAGATGCAGAAGCTACGAGCATTGTAATTTGAAAGAAATGCGGAGAGCCCTTTATGGGCAATAAAGTTGCCCCAGAGGGTATAAGTGAGGCCTTGCATTTATCCCACAGATTCCAGAGTGGGGTCGCTTCCATAAAGGGTGTCGGGAAAATTCTTGACATATCTGGTCATGAGGCAGTTTCCAAAGTCCTCTACCTCCCTTTCTATGCCTTAGAAGGTCACTCCACAGGAAATGTGCTAGATTGATTGATGCTGACAAGGACTTATTTGTGGTAGAAATGAAAGTAATAAACCTCAAAGATTGGGATCCATTCTGGGTGTCACACTTTAAGAGGAGTAGTGACAAATTGGAATGTGTGGGAGAGAGAGAGAGAGAGCTGAAACCATGTTAGAGGAGAGGGAAATAAAGTCAGGACAGATATTTGTCCCCAGGTAGAAAAGATTCAAGGAAGATGAGACAGCTGTTTGCAAACATTTGCAAACCATCAGATGGAAAAGAGATGGGCCTTACTTTCTGTCAGTCCAGATGGCAGAATTAGGATCATTGGCAGGATCAAATGGTAGAAAAACCTGTTTCCTTACTGTTAGAGCTACCTGACCATGGAATGGGTTATCTTGTTGGGTCACACTCTTTGTTAGTAGAAGTCACAGAAACTGAGACCTGTCAAGCACAATTTGAAGTGGCCTGTGTGTGGAAGAGGCTGAGTTTCATTCATATCATTACAGAACCTGGGGTTGTCTTTGGTCCCCTGAATGGGGAACCATCTAGAGCTCTTTAGGCTCAACTAAAAAAAAACCTGAATCCAACAGTTGTAGACACTGATTGGGATGGTAAAATCTGTGAGGTGAGGCTGGAGACAAAGCACCCATGAAAAGGGGGTATCTCTCAGCATAATATCTGACACGTGGTAGGAGCTCAATAAAGATGAGAAGAGACCATACGTGAGTAGGTAGTACAGCAAAGTGGTTCAAACTTGGGTTCTGGAATTCACCAGCCTGAGTCTGAATCTTGGCTCTGTTTTCATAAACTGTGTAACTGAACCTGTGTAACCAGTCAACCTCTCAAAGCCTCAAATTCCTCAGCTACAGAAGGGAGATAATAGCAGTATCTACATCGTAGGGTGTCTTTAAGGATTAAATGATGAAAGTGCTGGTCAAACCAACCCTAGTTTTACTCCACGCCCTACAGAAATGGTCGGCAAGGAGGAGGCAGCTTCCAAGACATTTTCACTGGGGAGCAGATCTATGTTTGGAAAAGACACACACAGAGAAAGCTTCCCACAGCCCTGCACTGCCTGCCCGGTCTCCCCAACCCAAGGTTTACTGGAACATCTTCTTCATTGGTCTTGTTACTCCAGGACCATCCAGGTGTACCCAGACATTTCGCAGGGTTTCTTTTAAAGGATTGGTAAACTCAACTGTCACAGTCATGTCAGAACCAACTACCTGAGTGCCACGGACCTAAGAGAGAGAATGCAGGTCATTAGCACCAAATAAAACCTCGTTCTGCTCTCTTGTTGTCTTAACCATCATCACTTTTACTAGAGTTTTATGATACAGTTATTTTTTTGGCAATGGAACCAGTGTGATGAGGATAGCTGATTGCTTTGACTGGAGGATACCTATTGAGAAAGAGATGGAAATTTACTAATTAGAATCGCACTCTTTTCCTCATTATAAAACCAGCCTAATTAGAGCTCAGGTCAATAGCGGTGGCCACTGACTGCTCTTTGACAGCAGGAGGGGGAAGTTCATTTGGTGTGGCAACACGTTTCCACGGTGAGGGCGGCCAAGTGAACTTTGCTTCTGGATAGGCATCAAGTTTCCTGCTGGGACAAAGGGGATTCCTGAGTTTAAGAAGTAGAAAATGCTTCAGGGCACATGTGCCTTCTTAGTTTTAGACACATTCGCAAGAAATATGCCAAGGATGGAGTCCTTACTGTTGAACATGAAGAGGAACCTGGATACTAAAATAAGTAAAGGAGATTTTTCTTCTACAGCCACAGTACCAGAGTCCAGGAAAATAAAAGGTTATTTGTTGGTGAGTTGATCTATTATGACTCTCAGAAGTATCAGGTATTTGGAAGAACACCACAGGAGACAGCCAGAGCTCAGTGCCAGGTTCAACACTTATTAACAGTGGGGACTCAGGTGATTTAGGCTTTCTGAGACTCAGTTTTCTTGTCTTTAAAATGGGCTGACACTTTTATGGGGCGATCTATGTAGAATGCTCTTATTATTACTATACCTTAAGCTGTGTTTACTGTATGCCACACACTTTAGAACCATATGCTTTTCCAACATAAACGCAATGTGCCGCAAAATGCCAGGTGGCTATAAGACTTGTTTGTTTGTTTAGGAGCTATGTATACCAAATGAATGGATCTGTATAAGCTCTAAGTAACTTGGGAATAAGATAAGAATAATAGTTCTTCCCTTGCAAGAAAGGTTTGGAATGAAAAATGCTCATAAAACGGCAAACATATTGCAAGGCACATGGCAAAGGCCCAATGCATTACAGTTGATGCTTTTTAGGGTAGCAATGCTCTGGGTAGTTTGTCTTATTCACCTTATATTTCAGCCCACTTTTAACTCCAATACTTAGTACTTCAATACCAATGTCCAGTAAATATTTATTAAATTAAGTCAATGGCTCAAAAATGGAATTTACTGGATGTCTGGATCTTCCAGATGACAACACAGCCATTACTATTCCATGTTCCTTTAGCCACTATATAATATGGGAGAAAATATATGGAAATGAGGCGTTTTTAAGAATGGACGTAAAGAGGAAGGACATTGCCCAGAGAAGAGGACCCTTGCTTACTTATGCTACAGTCAAGAATAAAATCTTCCTGATCTGATCATTACACACTGTATGCATGAATTGAAAAATCACATGTACCCCATAAATATGTACAATTATTATATATCGATTAAAAGAAGAATACACTCTTATGGCTTTACTCATCAAGCCATGCTTTGTGACTAAATTTATGGCTATGGGATTTCTTAAGTCTATAAGAAAAACGAAACTTTCAGCCAACTCCCTAAACTTTGTTACATTTAAATCCGCATCTCCTGGAGGGCAGTGGTGGAGAGCTGGATTCAGGGGAACTAGGAGAGGGGCAGACGATGGTCATGGTAGCAACAACAGCAGGTGCACCTAGACAGCATGGATCGTGTGCCAGGCAGGGAGTCCAGCACTTTAACCAGCAATCCTCAGTCTGGTAATGGGTGGATCCTGTAATTCATTTATTTGAGGCACCCCTGTTGATTACAAAGAACCAGCCCCAGCTGACAACCATAATTCACATATATTCTCACATAAGCCTCACAACACAAGGGCTATATTTGTATCAGCTCGATCAG
Task1_train_9980
Gene F13A1 (coagulation factor XIII A chain) on Chromosome 6 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Factor XIII, A subunit, deficiency of
CCTGCCACAACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGAGCTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCTGACCTCAGTTGATCCACCCGCCTCAGCCTCCCAAACTGCTGGGATTACAGGCATGAGCCACCATGCCTGGCCCCACTATAGTGATTTCTTAATTGTTAGCTCCATTACTGAAGCTGGGGAGATTTGCTTCCTTCAAATTTGAGTAAGTTCCTTGGAATTAGGATTTTAAAAAATAGTTTCTCATTTTTCTGGGAATATTTTCCAAAACCTCAGTAAGGGGACCATGATCTGTGACAGCCACAAAATCCAGAGAGCTTGAGAGCAATTCAGACTTGTGGCTTGACCATCCCAGGGGAGCGTATTAGTTTTGCTTGCCTTTGCTTTGTCAAAATTATTATTTGTACACTTTTCTCTTCAGTGCCCCATGTCAGGCCAACAGAAATTGGTGCCCCAAAGTATCGAGGTCCTTTGCAACCTGCTCTAACTCATTCTCTGCCTAGAGACCAGTTTCTTCCAATGGACTTGTGTTGCCCATCGTGTGGTCAACTGTTGTGCCCACCAAATACGAACATCCTAGGAAATGTGATTTTTTGAGATTGTAATCCCCAAGGCAAGCTGTAGCACGTGGACCCTGATCTGCTTAAAATATTCTGAGTTTTTACAGTGATGAAAATGCTTGGAAGGATGTGCATGCAAGGACGAGAAAGAGGCCCCACAAGAGATGGCAGAGGCAGAAAACCTCTTCCTAGGCCCCTCCTAGATGACACAGCTTTGTTTCCAGCCTCCATTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTATCGCTCAGTCACCCAGGCTGGAGGGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCGAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGACTACAGGTGCCTGCCACCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCGCTAACCTCAGCCTCCCAAAGTGCTGAGATTACAGGAGACAGCGTTTTAAGAAGCGGCCTATGTCAGCGCGTGTATCTTTTTGAATGGGAAAGCAAAGCACACTATTCATTCTGGACAGCCCCCAAAAGACTTTCCTAACTTGGGCGAGAGGCACCAGCAGAGGGCCTGTTTCTGAGATGGATCATTTAGATCCATGCTCCACAAACTCTCCTGTACACTCCAGTCTGCTTGGGATCTTGTCAAAACATGGATTTTGATTCAGAGGGTGTGGGGTGGGACATGAGATTCTACATTTTTTTCAAACTCCTGGGGAATGCTGATGCAGCTGGCTCATGGACCACACTTTGAGTAGCAAGAAGTTACATTTAATTCTCACAACTCATGGGGCTCTAGGCTTTGAAATTTTCAATGTTCACTTCTGTGCATGAGACGTGAGGATGAAAGTGGAGGCTTTTGGGCCGAGTGCGGTGGCTGACGCCTATAATTCCAGCACTTTGGCAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGATCAGCCTGGCCAACATAGTGAAATCCCGTCTCTACTAAAAATACAAAAATTTGCCTGGCGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGGATTGCTTGAACCCAGGAGGCAAAGGTTGCAGTGAACCAAGATCATCGCATTGCACTCCAGCCTGGGTGTCAGAGCGAGATTCCATCTCAAAAAATAAAAATAAAAAAAAAGAAAGTGGAGGCTTTTGCAGAATGAGTGGGTTCTCCCTGTGAGGCTCACACTTCTGAGATCTTGGAGGGAACTTTAACTTTGATATAAAGCTATAACGGGCATTAACACCTAGCAAGACAGGGGCCAGACAGCGAGTCTCAGAAAGAACCACACCATTGTTAGCTTACAGGACAAGGGCTCCAGCGTCACGTCGAACGTCTCCTTCTTGAATTCTGCCTTCGGGACCCCGGTGTAGAAGGTGATGTTGGCTGAGAGATAAGCTGTGATGGTGTAACGGTTGTGGCTGTTGTTCCGGAAGGTGATGGAGAGCTTGAAGTCTTTTCCCAGCACAGCATTTTCCACTTCAAAGTCCATGTCAACGTTGGACCTTGATTTCATGACACCTTCTGTGTTGAGGGGCTTTTTAGCTCCGTACATCAGGGCAGTTTCTAGGGCCAATCTCTCTTCTTCTTGACCTGGGGGAGATCCAGAGATAATGACAGGCAAAAATACAATCCACCAGAGAGAAAGTCACATTAATGGATGCACCGTGTACTGCACTTGTTGGGGTGTTTCTATAATACAAGCTTCAGACCTCCCCAGGAGGAGGGTGCCGTCATTATTCCTATGTTATAAATTCTGCAAAGTCAGATTGCCAGACAGTCAGTGACCAGCCTAGGCTGCAAGTTAGGAGGTGACAGTGTTGGGATCTATCCAGAAAGGGGTTTCTCCGGGGCCACTATTTCAGGGGGTGGGAGGTAAAATTGGCAATGTCTATCTTTTCTTAAACTGTGGTGTCAGTTTGCTTGCTTTTCTTAGTCCCAGCCATGTGGCTAGAATTTGGGGACCTCTAATAATTGGAAATAATTGCCTCTTGCCATTCCACCTCCTGCAATGTAACTTTTCTCTCTGATTTGTGAATACCTGCCCCCCAATAAGACCTGTCTTCCTCATCTCTCCTTCCACTTGGGCCTGTCCCACTTGCTGTTTGCTGAGCTGACCCTTGAGGGCTCCTGCCCCGTTCTTCCCTATCTCACTCAATTGCCATTGCCCCCAACACCCATGCCATGGCAGAAGGTTCTACCAAAACTTGCATCCCCCAGTCCCCAAGGATGCTGGGCTCTGGCAAGACATTAAAAAGGCGACCCTGCCCAAGGTGCTCCGGTCAGATCCCTTGGAGATGCCCTAGTTGTCCAGCGCCTCCTGGAGATGTTCTCCACCTTAATTAGCAAATTAGAGGTTCTAAGTGAAGCCCAGCAGCAAGGACACCTCTTTGCCTTTCTTTACACAAGGTTTCCCAAACTCATCTGACACGGAGGGCAGTTTTTTGAGGGACATCTGTTGACAGGCGGTGGTGCACCTAAGTTCTAATGCAGTTCGAGGTGTGTGTGCTGCTTTTAGGAAAATGTTTTGTGCAGGGTTTGCAAAGTGGTTGTGGTGGAGATGAAGGGAGGAAAAAGAGGAGGGTAACCTCCAGAAGAAGAAAAACATAGCTTTGTCTAAGTGATGAGGCAGAAAATACAGATACAAGTCAGGCCTCAGAAGGAGCTTATGCCTCAGACACTGGGAAGGTGGGAGAACGGTCCTTACAGAGCCTTGGACAAAAGGCTTTGGCTTGGAAACAGGGCTCATGCAGATGTGAGGGATGGTCATCATCCTCTTTTCCATCCTAAATACCTTTGGGTTTATCTTTGTGTATCCCTAAGGATAGAGATGAGAAGATGAAGGCAAATTCCTTGGCTTGTAAAAACTAGGCTTGAGAATGGCTAGTGAAAAAAAAATCACTTTAAAATAAGAATCCTAGCTTTTATAATTATGCTAGTTTAAAGGTATTGTCTTCTACTTTATCTAGTTAATAATAAAATGCAATGGTGACTGAGAGGTCAATGAATCATCAGAACCCTCACTGAGGGCTAGCTCTGTGCCAAGCACTGGCATAAGTGCTTATGATGCATTGTGTCATTTAATCCTCATAACAACACTATAAGACAGACACTATTATTACCATCACTTTCCTTGTTTGTAAAATAAGGGTGTCTACATCCTAGGTTTATTAGGTGAATTAGAGGAAGTAGATATATAATAAATGGAAGCTACTCTGCAAAGACAGAAAAAATGCCAGAAGGCATTGCATACGAATGTGAATGTGTAGTGTGTGTGTGTATTAACGATTTCCCTGATTGTCAAGACTGCAAGAATGTGCCAGGAACAGTTGGTCTAGGACAAGCATCAGCTAGAGCACTCGGAGGGAGGTAAGAAAAAGGGAAGGAGGAGTGAGGACAAGGGAAGTGCAGTG
CCTGCCACAACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGAGCTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCTGACCTCAGTTGATCCACCCGCCTCAGCCTCCCAAACTGCTGGGATTACAGGCATGAGCCACCATGCCTGGCCCCACTATAGTGATTTCTTAATTGTTAGCTCCATTACTGAAGCTGGGGAGATTTGCTTCCTTCAAATTTGAGTAAGTTCCTTGGAATTAGGATTTTAAAAAATAGTTTCTCATTTTTCTGGGAATATTTTCCAAAACCTCAGTAAGGGGACCATGATCTGTGACAGCCACAAAATCCAGAGAGCTTGAGAGCAATTCAGACTTGTGGCTTGACCATCCCAGGGGAGCGTATTAGTTTTGCTTGCCTTTGCTTTGTCAAAATTATTATTTGTACACTTTTCTCTTCAGTGCCCCATGTCAGGCCAACAGAAATTGGTGCCCCAAAGTATCGAGGTCCTTTGCAACCTGCTCTAACTCATTCTCTGCCTAGAGACCAGTTTCTTCCAATGGACTTGTGTTGCCCATCGTGTGGTCAACTGTTGTGCCCACCAAATACGAACATCCTAGGAAATGTGATTTTTTGAGATTGTAATCCCCAAGGCAAGCTGTAGCACGTGGACCCTGATCTGCTTAAAATATTCTGAGTTTTTACAGTGATGAAAATGCTTGGAAGGATGTGCATGCAAGGACGAGAAAGAGGCCCCACAAGAGATGGCAGAGGCAGAAAACCTCTTCCTAGGCCCCTCCTAGATGACACAGCTTTGTTTCCAGCCTCCATTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTATCGCTCAGTCACCCAGGCTGGAGGGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCGAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGACTACAGGTGCCTGCCACCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTAACCTCAGGTGATCCGCTAACCTCAGCCTCCCAAAGTGCTGAGATTACAGGAGACAGCGTTTTAAGAAGCGGCCTATGTCAGCGCGTGTATCTTTTTGAATGGGAAAGCAAAGCACACTATTCATTCTGGACAGCCCCCAAAAGACTTTCCTAACTTGGGCGAGAGGCACCAGCAGAGGGCCTGTTTCTGAGATGGATCATTTAGATCCATGCTCCACAAACTCTCCTGTACACTCCAGTCTGCTTGGGATCTTGTCAAAACATGGATTTTGATTCAGAGGGTGTGGGGTGGGACATGAGATTCTACATTTTTTTCAAACTCCTGGGGAATGCTGATGCAGCTGGCTCATGGACCACACTTTGAGTAGCAAGAAGTTACATTTAATTCTCACAACTCATGGGGCTCTAGGCTTTGAAATTTTCAATGTTCACTTCTGTGCATGAGACGTGAGGATGAAAGTGGAGGCTTTTGGGCCGAGTGCGGTGGCTGACGCCTATAATTCCAGCACTTTGGCAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGATCAGCCTGGCCAACATAGTGAAATCCCGTCTCTACTAAAAATACAAAAATTTGCCTGGCGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGGATTGCTTGAACCCAGGAGGCAAAGGTTGCAGTGAACCAAGATCATCGCATTGCACTCCAGCCTGGGTGTCAGAGCGAGATTCCATCTCAAAAAATAAAAATAAAAAAAAAGAAAGTGGAGGCTTTTGCAGAATGAGTGGGTTCTCCCTGTGAGGCTCACACTTCTGAGATCTTGGAGGGAACTTTAACTTTGATATAAAGCTATAACGGGCATTAACACCTAGCAAGACAGGGGCCAGACAGCGAGTCTCAGAAAGAACCACACCATTGTTAGCTTACAGGACAAGGGCTCCAGCGTCACGTCGAACGTCTCCTTCTTGAATTCTGCCTTCGGGACCCTGGTGTAGAAGGTGATGTTGGCTGAGAGATAAGCTGTGATGGTGTAACGGTTGTGGCTGTTGTTCCGGAAGGTGATGGAGAGCTTGAAGTCTTTTCCCAGCACAGCATTTTCCACTTCAAAGTCCATGTCAACGTTGGACCTTGATTTCATGACACCTTCTGTGTTGAGGGGCTTTTTAGCTCCGTACATCAGGGCAGTTTCTAGGGCCAATCTCTCTTCTTCTTGACCTGGGGGAGATCCAGAGATAATGACAGGCAAAAATACAATCCACCAGAGAGAAAGTCACATTAATGGATGCACCGTGTACTGCACTTGTTGGGGTGTTTCTATAATACAAGCTTCAGACCTCCCCAGGAGGAGGGTGCCGTCATTATTCCTATGTTATAAATTCTGCAAAGTCAGATTGCCAGACAGTCAGTGACCAGCCTAGGCTGCAAGTTAGGAGGTGACAGTGTTGGGATCTATCCAGAAAGGGGTTTCTCCGGGGCCACTATTTCAGGGGGTGGGAGGTAAAATTGGCAATGTCTATCTTTTCTTAAACTGTGGTGTCAGTTTGCTTGCTTTTCTTAGTCCCAGCCATGTGGCTAGAATTTGGGGACCTCTAATAATTGGAAATAATTGCCTCTTGCCATTCCACCTCCTGCAATGTAACTTTTCTCTCTGATTTGTGAATACCTGCCCCCCAATAAGACCTGTCTTCCTCATCTCTCCTTCCACTTGGGCCTGTCCCACTTGCTGTTTGCTGAGCTGACCCTTGAGGGCTCCTGCCCCGTTCTTCCCTATCTCACTCAATTGCCATTGCCCCCAACACCCATGCCATGGCAGAAGGTTCTACCAAAACTTGCATCCCCCAGTCCCCAAGGATGCTGGGCTCTGGCAAGACATTAAAAAGGCGACCCTGCCCAAGGTGCTCCGGTCAGATCCCTTGGAGATGCCCTAGTTGTCCAGCGCCTCCTGGAGATGTTCTCCACCTTAATTAGCAAATTAGAGGTTCTAAGTGAAGCCCAGCAGCAAGGACACCTCTTTGCCTTTCTTTACACAAGGTTTCCCAAACTCATCTGACACGGAGGGCAGTTTTTTGAGGGACATCTGTTGACAGGCGGTGGTGCACCTAAGTTCTAATGCAGTTCGAGGTGTGTGTGCTGCTTTTAGGAAAATGTTTTGTGCAGGGTTTGCAAAGTGGTTGTGGTGGAGATGAAGGGAGGAAAAAGAGGAGGGTAACCTCCAGAAGAAGAAAAACATAGCTTTGTCTAAGTGATGAGGCAGAAAATACAGATACAAGTCAGGCCTCAGAAGGAGCTTATGCCTCAGACACTGGGAAGGTGGGAGAACGGTCCTTACAGAGCCTTGGACAAAAGGCTTTGGCTTGGAAACAGGGCTCATGCAGATGTGAGGGATGGTCATCATCCTCTTTTCCATCCTAAATACCTTTGGGTTTATCTTTGTGTATCCCTAAGGATAGAGATGAGAAGATGAAGGCAAATTCCTTGGCTTGTAAAAACTAGGCTTGAGAATGGCTAGTGAAAAAAAAATCACTTTAAAATAAGAATCCTAGCTTTTATAATTATGCTAGTTTAAAGGTATTGTCTTCTACTTTATCTAGTTAATAATAAAATGCAATGGTGACTGAGAGGTCAATGAATCATCAGAACCCTCACTGAGGGCTAGCTCTGTGCCAAGCACTGGCATAAGTGCTTATGATGCATTGTGTCATTTAATCCTCATAACAACACTATAAGACAGACACTATTATTACCATCACTTTCCTTGTTTGTAAAATAAGGGTGTCTACATCCTAGGTTTATTAGGTGAATTAGAGGAAGTAGATATATAATAAATGGAAGCTACTCTGCAAAGACAGAAAAAATGCCAGAAGGCATTGCATACGAATGTGAATGTGTAGTGTGTGTGTGTATTAACGATTTCCCTGATTGTCAAGACTGCAAGAATGTGCCAGGAACAGTTGGTCTAGGACAAGCATCAGCTAGAGCACTCGGAGGGAGGTAAGAAAAAGGGAAGGAGGAGTGAGGACAAGGGAAGTGCAGTG
Task1_train_9981
The gene F13A1 (coagulation factor XIII A chain), on Chromosome 6, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Factor XIII, A subunit, deficiency of
GGGCTCTCGTAGCATCATAAACTATCAAATGACAGCTGGGAGGTTTGTGGAAATCTTCAAATCCCAAAGTGAAAACGAGGGGATAAAATTCCAAGTCCAGTAAGCTTGGTCTCCAAAGGCTTCTGTAAACTGCCACGGCAGGTACGATGAGATGAACACTGGTCTTTTGTGTGTTTCAAATTCCTGATCTTGCTGTCTGAATTTTGATGTTCGTTTTGCTTTCTAAATATTAACATTTCTCAGTCCTGCCTCCTCTTTTCCTCATTATTGCCATTTGTCTAGCTCATGCCCTTTCCATCTCTGGCTTGGAGGGATGACCAGCCCTCTAGATGTTCCCCACAACTTCATAACAACCCCTCCAATCCGTGTTCCACAAGGCTGTCAGCACCTTGCCCAAGTTCCCACCCAGTGAAAACTCTCCCTCACTTACAGGAGGGACAAGGAGCAAGTCTCTCAGGGAGGTCCTCTGCACTGCGTTCCTTCAGCCTCCACCTTCCAACACCCCTGATGCATCCTTGGCGTTCTAGTGAGTCTGCACAGCTTTCAACTGCCCCCACAAAGCTTTCAGATGCTCAACTCATCCCCCTGCTTTGCACTCCTCCCTTCCTCTGGCTTCTTTCTAATCATTTTGCCTAATCATCCCTCCTTCCCATGTGGTCCCACAGTTCTCTGCTCTTACTACCTGGGGACACTTCCACAGGCATCCTCACTGTCTGTTCCCAGGTCGCCCTTCCTTCCTAGATGGTGTCTTGTGGTCTTTGCCATCCTGCTTCAGTTCTTGGCCTCTACTTCCCAACTCATGCATCATATGAATGCAGATCTGTGCTCTCTACATGGCCCACCTGACAAGTATTGTTGTTATTTCATGTTCAGTGTGTTTGTGCCCTGTCACCTGGCATCTAGAAATACGTTTCTTAAAGACTTGAACCTTAGAATTCCCCCCAGTACAATGCCTGGTGTACATTAATAATAACTATTTGTTCCTCCTGGAGTACTAGAGTGCAATGGTTACCAGTATGCATTCAGGTATCTGCCTGGCTTCAAATCTTAGCACTGCTATTTATTAGCTAGATGGTTGTGAGAAAGTCACTTAATCACTCTTTGCCTCGATTTTATTTTCTGTAAAATGGGAAGAATTATCAATTTTAGAAGGTTGCTAAGAGCATCCAATGGTAGGCAAAGTGAAAGACATTATTTCAGTGTATTTACTGGTGCAAATATACCCTGGGGAAGTCCTGCCTCTCAGTCTTTCAAGTCTTCCTAGGCCGGCAGCCCAGCCTTCTCGTTTACCCAACATCTCTTACATTTAATTTGATTTTCAGAGCTCTCCTTGAGTATCCTTTAACAGCCTGTTCTGCTTCCAGTCCCTGCCTAGTTCTTCTGAAATGGCAGAGCCTTTGCCCAGGCATTCCCATCAACCCTGTAGGTGGGCTGTATTCCTCTCTTAGAGTAGCCTCCAGGCTCCCCTTCCTCCTTTGGCAACTCAACCCTCCCTCCCTGGCCACAGGTGATGGTGTGGGATGGCAGGACATAGATTGCAAAGGCCAGGGTAAGACCATGGTTGGGTGTGTGTATGTGGATTTTGTCTTACCTGGATTGCTGGACTAGTCCCAGAGGGAAGTGGCATGTCCTGAAATTTCAATTCATGACCCATCTCTTCCAATGAGGTTAGTTGAGAGATCCATTAGTCATATAATTTCTCTGGAGCAGTTGATACTTAATGGGTGCAGAGAACTAAGCTAATGTTAGTAAAGCATTTACTTTTGGGAGTAGGGAATCCCAAAACATCAAGGAAAGAAAAATGTTAAACAAGAACTGCATTTAGCATTAATAGCCTGGAAGTTGGAATAATGCCTAGTTACCTTTGTCAACACGAAGCATACGCTATGTACCTGGAAAACTTAGAAACAACAACTTTTAGCTTACTCTTTCATGTGTTAAGAGGTTGGGGAGAAAAACAGCACTTTCCTCCAGCTTCCTGCTTACCTCTGCAAAAACAAAAGGTGCATCAAATTGGAAGCAGACATGGCCGTGCTTGATGGCTTGAACCGAGGCGGGGCCACACCGATACATGCCTGCATTGCACAGAGGAAGGGCGGTGTGAGTTTGTCATCTCCAATTCTGTCCAGATACTGCAAGATTCATGGCACTGAGGGTGACTCTGTAAAGACCAGTGTTCCCAACTTCATTGCTGATTTAGCCCAGATGCTTTCCAAGGCTGAAGAGAATTCCATTGGCTATGCCCCCTCAAGCCAAAAATTGAAGCCATGGAAATAAATACAAGGCAACACTATTCCTGCATCTACTCTGCCACCTACAGACACATACCCAGATGTGTTGATGCCAAGCAGGTGGCTTACACAGCATTTATCTCTTGTTCAGGTGGTATCTGAAATGTTGGAAATGTTGATGTGTGCTCTGTGGTTGTGCTGCTGTTGCTGTTTGTTTTGCTTTTTGTCTTTTGTTTTTGGACATTATGAACATATGTCAAGTTTAACTGGAGAATTTGGACATTGCCTGTGCATTTTGGCCATGCCCACCATGCATTTAGGAAGTCAGAGGGCCTATGTTACTCTTCTAAAATGCTTTAAATTTTAACCACCTATCTATATAGTTAATAAGAGATTAGCTGCTATTAGTCACCTGTAAAATGTCCCCATGATATATATACCAGAACACCAGAAAGTGCTAAACTTTCTTCCTTAAAGCCTAGGATTATAATATGGTTTCAGTATGAATATCCATTGAATGTTTATGCATGTTCCTGTGTGTGCCCATCGATATATCAACACCTGAGGAAATAAACATAATATCCACAGTCTACTGATTCTTTATATTATCATATTAAAGAGAGATGGAGGCTTATGATGTGATTTTATAAAAATCTGGGGGAGGTCAGAGCTGCAGCTGCTTAGCATAGTTGGCAAGTTAGAAGACAAATACCCACATACTGAAGCTTTGGAGGAAATCACATGACATAAAAGGAGGCCAGGTTCTGGAAAAACAATTTAAAGGATGATCTATAATTATTTTTCGAGTTCTCTATTTTCTCTCCTGCCTTATATCTTACCAGTGCATACCACAAAGGGCTGAAGTATATTTTATAGCCTAGTAAAAATGCTTACAGATATTTTCTCTCCTGTCTTCAAAACTGCTTAGCAAAGCAAGAATGGATGAATTATACGTTGTTTTATATTCTTTCTCTAAAATCTGTAAAATAATCAGGGTAAAGCTGACAATGGAAATGAAATTAAACCTGATTGGAAGGTAGCTAATACTGTACATGTGCCCAGGAAGCACACTTCAGATGTTGCCTCCCAATGGGCGTGGTTCCCACACATCAAATGCAAGCATAAAAGCAAAACAAAGATCAGCAATGAAGCAAGTTCCCAGAGGGAGGACACAGTTTTACCATCGCTATTTTCCTGGGGGGTGCTGTCCACAGCTTGCCAGCCTCCAAATCCAACAGGAAGGTCAGGCCTTGTCATCCATGCTTCATTCCAGCAGTGGTAGTTCCTTAGAAAACACAAGCCCAGAAAGGTTAAACTTCCCATCACACCCAATGCTCCAAGAGATCAAGAAGTGACGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCAATTTGGGAGGCCAAGGCAGGTGAGTCACAAGGTCAAGACATCAAGACCAGCCTTGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGGGTGCCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAATCTGGGATATGGAGGTTACAGTGAGCTGAGATTGTGCCACTGCACTTCAGCCTGGTGACAGAGGGAGACTCCATCTCAAAAAAAAAAAAAAGTGACCCCAAATCCTGTGCATATGCTATCTACAGATTATTAGAATGGATTAAGCCAAATCTGAGGGCTCCTGGAGATATCCTGGGGCTCTAGACTTGGGTTTTCTGGGCAGATTCATTCTCATTGGCATCCCTCAGGACACTCACATGGCTGGATGTCTCTTTCCCTCTGCTAAGAGCAGCTTCAAGGCCACCCAAAGATATTTGAATCAGTGCAT
GGGCTCTCGTAGCATCATAAACTATCAAATGACAGCTGGGAGGTTTGTGGAAATCTTCAAATCCCAAAGTGAAAACGAGGGGATAAAATTCCAAGTCCAGTAAGCTTGGTCTCCAAAGGCTTCTGTAAACTGCCACGGCAGGTACGATGAGATGAACACTGGTCTTTTGTGTGTTTCAAATTCCTGATCTTGCTGTCTGAATTTTGATGTTCGTTTTGCTTTCTAAATATTAACATTTCTCAGTCCTGCCTCCTCTTTTCCTCATTATTGCCATTTGTCTAGCTCATGCCCTTTCCATCTCTGGCTTGGAGGGATGACCAGCCCTCTAGATGTTCCCCACAACTTCATAACAACCCCTCCAATCCGTGTTCCACAAGGCTGTCAGCACCTTGCCCAAGTTCCCACCCAGTGAAAACTCTCCCTCACTTACAGGAGGGACAAGGAGCAAGTCTCTCAGGGAGGTCCTCTGCACTGCGTTCCTTCAGCCTCCACCTTCCAACACCCCTGATGCATCCTTGGCGTTCTAGTGAGTCTGCACAGCTTTCAACTGCCCCCACAAAGCTTTCAGATGCTCAACTCATCCCCCTGCTTTGCACTCCTCCCTTCCTCTGGCTTCTTTCTAATCATTTTGCCTAATCATCCCTCCTTCCCATGTGGTCCCACAGTTCTCTGCTCTTACTACCTGGGGACACTTCCACAGGCATCCTCACTGTCTGTTCCCAGGTCGCCCTTCCTTCCTAGATGGTGTCTTGTGGTCTTTGCCATCCTGCTTCAGTTCTTGGCCTCTACTTCCCAACTCATGCATCATATGAATGCAGATCTGTGCTCTCTACATGGCCCACCTGACAAGTATTGTTGTTATTTCATGTTCAGTGTGTTTGTGCCCTGTCACCTGGCATCTAGAAATACGTTTCTTAAAGACTTGAACCTTAGAATTCCCCCCAGTACAATGCCTGGTGTACATTAATAATAACTATTTGTTCCTCCTGGAGTACTAGAGTGCAATGGTTACCAGTATGCATTCAGGTATCTGCCTGGCTTCAAATCTTAGCACTGCTATTTATTAGCTAGATGGTTGTGAGAAAGTCACTTAATCACTCTTTGCCTCGATTTTATTTTCTGTAAAATGGGAAGAATTATCAATTTTAGAAGGTTGCTAAGAGCATCCAATGGTAGGCAAAGTGAAAGACATTATTTCAGTGTATTTACTGGTGCAAATATACCCTGGGGAAGTCCTGCCTCTCAGTCTTTCAAGTCTTCCTAGGCCGGCAGCCCAGCCTTCTCGTTTACCCAACATCTCTTACATTTAATTTGATTTTCAGAGCTCTCCTTGAGTATCCTTTAACAGCCTGTTCTGCTTCCAGTCCCTGCCTAGTTCTTCTGAAATGGCAGAGCCTTTGCCCAGGCATTCCCATCAACCCTGTAGGTGGGCTGTATTCCTCTCTTAGAGTAGCCTCCAGGCTCCCCTTCCTCCTTTGGCAACTCAACCCTCCCTCCCTGGCCACAGGTGATGGTGTGGGATGGCAGGACATAGATTGCAAAGGCCAGGGTAAGACCATGGTTGGGTGTGTGTATGTGGATTTTGTCTTACCTGGATTGCTGGACTAGTCCCAGAGGGAAGTGGCATGTCCTGAAATTTCAATTCATGACCCATCTCTTCCAATGAGGTTAGTTGAGAGATCCATTAGTCATATAATTTCTCTGGAGCAGTTGATACTTAATGGGTGCAGAGAACTAAGCTAATGTTAGTAAAGCATTTACTTTTGGGAGTAGGGAATCCCAAAACATCAAGGAAAGAAAAATGTTAAACAAGAACTGCATTTAGCATTAATAGCCTGGAAGTTGGAATAATGCCTAGTTACCTTTGTCAACACGAAGCATACGCTATGTACCTGGAAAACTTAGAAACAACAACTTTTAGCTTACTCTTTCATGTGTTAAGAGGTTGGGGAGAAAAACAGCACTTTCCTCCAGCTTCCTGCTTACCTCTGCAAAAACAAAAGGTGCATCAAATTGGAAGCAGACATGGCCGTGCTTGATGGCTTGAAACGAGGCGGGGCCACACCGATACATGCCTGCATTGCACAGAGGAAGGGCGGTGTGAGTTTGTCATCTCCAATTCTGTCCAGATACTGCAAGATTCATGGCACTGAGGGTGACTCTGTAAAGACCAGTGTTCCCAACTTCATTGCTGATTTAGCCCAGATGCTTTCCAAGGCTGAAGAGAATTCCATTGGCTATGCCCCCTCAAGCCAAAAATTGAAGCCATGGAAATAAATACAAGGCAACACTATTCCTGCATCTACTCTGCCACCTACAGACACATACCCAGATGTGTTGATGCCAAGCAGGTGGCTTACACAGCATTTATCTCTTGTTCAGGTGGTATCTGAAATGTTGGAAATGTTGATGTGTGCTCTGTGGTTGTGCTGCTGTTGCTGTTTGTTTTGCTTTTTGTCTTTTGTTTTTGGACATTATGAACATATGTCAAGTTTAACTGGAGAATTTGGACATTGCCTGTGCATTTTGGCCATGCCCACCATGCATTTAGGAAGTCAGAGGGCCTATGTTACTCTTCTAAAATGCTTTAAATTTTAACCACCTATCTATATAGTTAATAAGAGATTAGCTGCTATTAGTCACCTGTAAAATGTCCCCATGATATATATACCAGAACACCAGAAAGTGCTAAACTTTCTTCCTTAAAGCCTAGGATTATAATATGGTTTCAGTATGAATATCCATTGAATGTTTATGCATGTTCCTGTGTGTGCCCATCGATATATCAACACCTGAGGAAATAAACATAATATCCACAGTCTACTGATTCTTTATATTATCATATTAAAGAGAGATGGAGGCTTATGATGTGATTTTATAAAAATCTGGGGGAGGTCAGAGCTGCAGCTGCTTAGCATAGTTGGCAAGTTAGAAGACAAATACCCACATACTGAAGCTTTGGAGGAAATCACATGACATAAAAGGAGGCCAGGTTCTGGAAAAACAATTTAAAGGATGATCTATAATTATTTTTCGAGTTCTCTATTTTCTCTCCTGCCTTATATCTTACCAGTGCATACCACAAAGGGCTGAAGTATATTTTATAGCCTAGTAAAAATGCTTACAGATATTTTCTCTCCTGTCTTCAAAACTGCTTAGCAAAGCAAGAATGGATGAATTATACGTTGTTTTATATTCTTTCTCTAAAATCTGTAAAATAATCAGGGTAAAGCTGACAATGGAAATGAAATTAAACCTGATTGGAAGGTAGCTAATACTGTACATGTGCCCAGGAAGCACACTTCAGATGTTGCCTCCCAATGGGCGTGGTTCCCACACATCAAATGCAAGCATAAAAGCAAAACAAAGATCAGCAATGAAGCAAGTTCCCAGAGGGAGGACACAGTTTTACCATCGCTATTTTCCTGGGGGGTGCTGTCCACAGCTTGCCAGCCTCCAAATCCAACAGGAAGGTCAGGCCTTGTCATCCATGCTTCATTCCAGCAGTGGTAGTTCCTTAGAAAACACAAGCCCAGAAAGGTTAAACTTCCCATCACACCCAATGCTCCAAGAGATCAAGAAGTGACGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCAATTTGGGAGGCCAAGGCAGGTGAGTCACAAGGTCAAGACATCAAGACCAGCCTTGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGGGTGCCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAATCTGGGATATGGAGGTTACAGTGAGCTGAGATTGTGCCACTGCACTTCAGCCTGGTGACAGAGGGAGACTCCATCTCAAAAAAAAAAAAAAGTGACCCCAAATCCTGTGCATATGCTATCTACAGATTATTAGAATGGATTAAGCCAAATCTGAGGGCTCCTGGAGATATCCTGGGGCTCTAGACTTGGGTTTTCTGGGCAGATTCATTCTCATTGGCATCCCTCAGGACACTCACATGGCTGGATGTCTCTTTCCCTCTGCTAAGAGCAGCTTCAAGGCCACCCAAAGATATTTGAATCAGTGCAT
Task1_train_9982
Consider a variant on Chromosome 6 in gene F13A1 (coagulation factor XIII A chain). Determine its clinical classification and disease relevance.
Pathogenic; Factor XIII, A subunit, deficiency of
GGCACGTCCTGAGTTGTGCTGGTCTCAGCCCCGCAGTCAGTCAGAGCATCTGATCAGGCATCATGCGTTGAAAACCTACTACAAGCCAGGCAAAGGAAGGGAAGAGGAGTCTCGGGCAGTGGTCTGCAGTGGAGGGTGGGTGAGGGTCCCAGGCCAGGAAGAACAGTCTCAGGGTGATGGGATATTTGAGTAAGGCACCAAAGGAACAAATGGTGTCAGGAAAAGGGGAAGTAATTTGGAGCAGGGACCTGAATGAGGACAGGGTTACCAAGGGCAAGATCTACCTTCGCTATTTTGTATTAACTCTGTTTAGGGCCTGTGGGGTTATTTGTAGGAGTGCCTCATAGGGACTTATTTGATGATGGGAGGTACCTGAATCAAGGAGCTGGGAAAGATAACTTTGAACTGCACTTAGCTACAAAGGCTGTGTGTGTGTGTCTGTGTGTCTGTCTGTGTGTGTGTGTGTGTGTCTGTGTGTTTTTAAGGAAGAGATATGGAGAATGCCAAATAACTATCTTTTTGTCATTTTTAACAATTGCAATGAGTTTTTGGGGTGACTATTTTGGTCTGTTTTGTCATCCCATATACATGCAGGGCTGCTATATTATAATTCTGCAGGCTTAAAGTGTTCTTTAAATTTCTGTTCAATTTACAGAGACAAGGTTTTGTCTTACACGTGCCCTCCAGCTTACTATGGCTCAGCTCATTCCCTTCCAATGAACCGAACTATTTTTAATTCATGGTAGCACTTTGCTACTCATTCAGCAATTTCATTTCAACATTCTCCAATGAATGTGTGCCCCTACTGGTGAGTTAATACTGCTGCTACAACTGTGATCCATTCCTGTAACATGAAGTTCAGGCACTTCTAACTTTTAGTTTTGCTTAAAATGAACTTGTAACTTCCTACCATCCCCATTTGGATGCTTGTATAACAGAAAGTGTTTTAGCTTTATTATTTGTGCATGAGACTCATTTTTGGCTTAGAAGTTCTACCTAGCTCAATGCCTGACCACAGAGGAACTTATGCCCCAATTTCCTCCCACACAGACCTTGATAAAAATTCTTCCTACTTAAACTCTTAGGATTTTTTTCGTTTCTTCTTAGTGTATTGATTTGGACTTAGGGGGTCTCAAGGAAAAATGGAATTTCCCTGGGATCTTAAGTTCCCTCTAGCCAGCTTGTAACAAAGCTGTTCAGGGCAGTGAGAGAACCCCACAGCTGGTTTTGGGGAACAATTTCAGCTTTACTCCCATTTCTATATCTCAATGAAAGGTGACAATATAATCAAGGAGAATCTCATCTTTACATTCGAAAAGAAAACCTATACTGCTGAAGTCATTTAAAAGGTTGTGGTTAATGGTCAGAAGCATTTGGGTTTATTCCCAGCTCAACAGATGTATGACCGTGAGCAAGCCTTTTTGGGCCTCAGTTTCCTCATTTGTAAATGGCGATATTAATAACATCCACCTGATACAACTAAAAAGAACTGGATAAGATCATGCATACACCAAGACCGATGCATAGTAAATACTAAATAAATGTTAGCTCTATTAGTCCCAGGGCACTGACCCAGAGAACGCTTGGCTCCAATACTTCTGCTATTAACTGTAATATTAATATATCAAGGTAGAGAGGAACTAGTATAGGCATATGCAGCAGCTAAAACTATGACCTTTTTTTGGTGGTTGCTATTATAAGGAATGATTGATTTTTATCACTAGGAACCCAAACTGTCTCTTCAGTAACATTTCTAATCATTTGCTAGAACATTCTTTGACAATCAGAGTTTTCTGCCTGTGCTGTTGAATGGTCCTCAAAATAGAACAGAAACATCAGATTGAGTCTATCTTGTGGTAAATGTGTAACATTACTATAATGTGACATCAGCCAATGCCATTGTCAATCAAACTCACCACACTGAATCCTTGGTGAGTTTGGAATTCACGTTCCCATCTTCTTCCAGGAAGATGTCCATTTGCAAATTGGCATCATTATCATGGGCAGAGAAATAATTGGTAACAATTCTTGCTGGTATTCCAAGGCATCGTAAAACTACAGGAAAGGACAGACCACAGCTAAACACATCACCAGCATTTAATAAACACAGAGTGAAAAAACCCTTCTTGTAGGGGACTTTCTTCCTGACCCAACATGAAAAGCCCTTTGGACATGTTATTCTCAAATGTTCCATGCTGGAAAAGGGTGGTCATTCAACCCCATGGGGGCGGTAGAGAGAAATCTTGCTGTGTGATCCTTCAGAATTGCAGCTGGTGTCAGGTGAAGCCAACTAGAGTAGAATCCCAACAGGGTTCTAATTGTTTCGTTTCTAAGCGTTTGATCATCAACGTAGTATTATTTTAGTCCCATGAATGGGACTATGTTCCCGAAAATACAATTTTAAAAACCCACTAATAGGAAGTTAGGAATTTACAGAGTAGGTCCTTGGTGGAATTTGCTGTCTTGGCCAGAATTTGCTCCTGTGACATGCATTGGTGGGTGACACCACAGATTCATTTTAGTTCATTTTAATAGATAACAAATTATCTGAATACCTTTCTTGCCATATGTACCTACTGATTAAACTTAATCCAAATGCCCTCCCTGCCTCCCAGGACACCAGACATCAGGGCTCATTGAAAATAATTCAGCTGACAATTTTAAGATTAATGACTTGGCTTGCCTTTTTATTTTCTCCTTCAGAATAGTTTAGCATTTTTAACCAAAGACTACCCACCTCCTTCAACAGAACAACCTTGGAAGTCCAAACTGGAGTCTGGTAGAGATTCAAGGGTCCCCCTCCTTAAAGGACTTGATCTTAATGCCCCAAACAACAGTGGCAGCTGCCACGGGCCTCCCGTTCCCATTTTCCTTTCTTGATTTTCAGCCCTGTTCACCCAGGGTCTTATCAATAAAACGATTGCCACTCTCATTCTGTTTCTGGCTGAACACTAATTCACATTATCCCAGACACGACTTGGTCAAGACTCTGCCTTACTCATAATTTCAAGAAAGTGAGGCTTGACTTTAGGGCACCTGTTCCTCCTTCCCCCAATTTCCATCTTCAGGTTTACTCTCGTTGTGACTTCCCCACTGTGTGTTTCTGCCTTTTCTTGATTTACCGCCAAAGCCTGTTTTCAGGCATAGATTGGATAACCTTTTTATGCCAAAGACACGAACGGATGTAAGGTGTTCACTATTTTATCTTGTTGTGAGCCGGAAGGAATTACACTGGGATAGTGAAATTGTAGGCATGGGGAGAACTTGGGTCCTTTCTGTCTTCTAAAATCATTTCACAAGAGTGGTTGCCTCTGTTGGGCATCTTTTACCTTGTCTTGGTTTGGGAGCCTCGAGGGATGGGATGACCTCCAACCTTTAACCTACCATGAAGTTCCGGCTTCTATCTGGAACTTCAGAGACCAGTGCTTCTAGGGGACTATACTTTTGATTTTCATTGCTCCCAAGAAATATGTATTCCTTCTTCCCTGGGTTATATTTAAATGGCTAAGAAAATAATCTTATCCTGTTTGATACTATGGGAAAATAAAACAAAACAAAACTCATGACTTTTTTTTTTTAAATTTAGATCACCAAGTCTTAGACTGTTGAGACTTTGAGCTAAAACAAATAGGTTTTGTAATCATTTTTTTAAATGACCTCCCTCCAGCCTCCAACCCCTCCCTTTGTTTTTGATTTAAAAAATGTTAGCTAGGTAAAAATTCTTTATTAATGAGCAGGCAGAAAGGACACCCCAACTTGAGCTTAATGTTTCTCCAAGGCTGTAGAAATGACTTGTGAATGAAAATCATTACCAGTGATGAAGACATACTGAAATAAATGTATTTTTAAAAATATTCACTGAATTAATTGTAATATCGTCTGGGTCTAGAGAGGCAAATGCCTCTGAAAAATGATGCATGACACTGAAGAGAATAATTCTGTTCTCATATGCTTTCCTCTACAGATTGGATGTTGGGTGGATTAAAAACCAGAGGGGAAACTGGAGAGGGAAAGATTGTTCATTATGTTCTGATCTCTAATTGCTCAGGGGCATTGAGAAATGTGGAAAAATGAATATGAGACCACCTGCTATAAT
GGCACGTCCTGAGTTGTGCTGGTCTCAGCCCCGCAGTCAGTCAGAGCATCTGATCAGGCATCATGCGTTGAAAACCTACTACAAGCCAGGCAAAGGAAGGGAAGAGGAGTCTCGGGCAGTGGTCTGCAGTGGAGGGTGGGTGAGGGTCCCAGGCCAGGAAGAACAGTCTCAGGGTGATGGGATATTTGAGTAAGGCACCAAAGGAACAAATGGTGTCAGGAAAAGGGGAAGTAATTTGGAGCAGGGACCTGAATGAGGACAGGGTTACCAAGGGCAAGATCTACCTTCGCTATTTTGTATTAACTCTGTTTAGGGCCTGTGGGGTTATTTGTAGGAGTGCCTCATAGGGACTTATTTGATGATGGGAGGTACCTGAATCAAGGAGCTGGGAAAGATAACTTTGAACTGCACTTAGCTACAAAGGCTGTGTGTGTGTGTCTGTGTGTCTGTCTGTGTGTGTGTGTGTGTGTCTGTGTGTTTTTAAGGAAGAGATATGGAGAATGCCAAATAACTATCTTTTTGTCATTTTTAACAATTGCAATGAGTTTTTGGGGTGACTATTTTGGTCTGTTTTGTCATCCCATATACATGCAGGGCTGCTATATTATAATTCTGCAGGCTTAAAGTGTTCTTTAAATTTCTGTTCAATTTACAGAGACAAGGTTTTGTCTTACACGTGCCCTCCAGCTTACTATGGCTCAGCTCATTCCCTTCCAATGAACCGAACTATTTTTAATTCATGGTAGCACTTTGCTACTCATTCAGCAATTTCATTTCAACATTCTCCAATGAATGTGTGCCCCTACTGGTGAGTTAATACTGCTGCTACAACTGTGATCCATTCCTGTAACATGAAGTTCAGGCACTTCTAACTTTTAGTTTTGCTTAAAATGAACTTGTAACTTCCTACCATCCCCATTTGGATGCTTGTATAACAGAAAGTGTTTTAGCTTTATTATTTGTGCATGAGACTCATTTTTGGCTTAGAAGTTCTACCTAGCTCAATGCCTGACCACAGAGGAACTTATGCCCCAATTTCCTCCCACACAGACCTTGATAAAAATTCTTCCTACTTAAACTCTTAGGATTTTTTTCGTTTCTTCTTAGTGTATTGATTTGGACTTAGGGGGTCTCAAGGAAAAATGGAATTTCCCTGGGATCTTAAGTTCCCTCTAGCCAGCTTGTAACAAAGCTGTTCAGGGCAGTGAGAGAACCCCACAGCTGGTTTTGGGGAACAATTTCAGCTTTACTCCCATTTCTATATCTCAATGAAAGGTGACAATATAATCAAGGAGAATCTCATCTTTACATTCGAAAAGAAAACCTATACTGCTGAAGTCATTTAAAAGGTTGTGGTTAATGGTCAGAAGCATTTGGGTTTATTCCCAGCTCAACAGATGTATGACCGTGAGCAAGCCTTTTTGGGCCTCAGTTTCCTCATTTGTAAATGGCGATATTAATAACATCCACCTGATACAACTAAAAAGAACTGGATAAGATCATGCATACACCAAGACCGATGCATAGTAAATACTAAATAAATGTTAGCTCTATTAGTCCCAGGGCACTGACCCAGAGAACGCTTGGCTCCAATACTTCTGCTATTAACTGTAATATTAATATATCAAGGTAGAGAGGAACTAGTATAGGCATATGCAGCAGCTAAAACTATGACCTTTTTTTGGTGGTTGCTATTATAAGGAATGATTGATTTTTATCACTAGGAACCCAAACTGTCTCTTCAGTAACATTTCTAATCATTTGCTAGAACATTCTTTGACAATCAGAGTTTTCTGCCTGTGCTGTTGAATGGTCCTCAAAATAGAACAGAAACATCAGATTGAGTCTATCTTGTGGTAAATGTGTAACATTACTATAATGTGACATCAGCCAATGCCATTGTCAATCAAACTCACCACACTGAATCCTTGGTGAGTTTGGAATTCACGTTCCCATCTTCTTCCAGGAAGATGTCCATTTGCAAATTGGCATCATTATCATGGGCAGAGAAATAATTGGTAACAATTCTTGCTGGTATTCCAAGGCATTGTAAAACTACAGGAAAGGACAGACCACAGCTAAACACATCACCAGCATTTAATAAACACAGAGTGAAAAAACCCTTCTTGTAGGGGACTTTCTTCCTGACCCAACATGAAAAGCCCTTTGGACATGTTATTCTCAAATGTTCCATGCTGGAAAAGGGTGGTCATTCAACCCCATGGGGGCGGTAGAGAGAAATCTTGCTGTGTGATCCTTCAGAATTGCAGCTGGTGTCAGGTGAAGCCAACTAGAGTAGAATCCCAACAGGGTTCTAATTGTTTCGTTTCTAAGCGTTTGATCATCAACGTAGTATTATTTTAGTCCCATGAATGGGACTATGTTCCCGAAAATACAATTTTAAAAACCCACTAATAGGAAGTTAGGAATTTACAGAGTAGGTCCTTGGTGGAATTTGCTGTCTTGGCCAGAATTTGCTCCTGTGACATGCATTGGTGGGTGACACCACAGATTCATTTTAGTTCATTTTAATAGATAACAAATTATCTGAATACCTTTCTTGCCATATGTACCTACTGATTAAACTTAATCCAAATGCCCTCCCTGCCTCCCAGGACACCAGACATCAGGGCTCATTGAAAATAATTCAGCTGACAATTTTAAGATTAATGACTTGGCTTGCCTTTTTATTTTCTCCTTCAGAATAGTTTAGCATTTTTAACCAAAGACTACCCACCTCCTTCAACAGAACAACCTTGGAAGTCCAAACTGGAGTCTGGTAGAGATTCAAGGGTCCCCCTCCTTAAAGGACTTGATCTTAATGCCCCAAACAACAGTGGCAGCTGCCACGGGCCTCCCGTTCCCATTTTCCTTTCTTGATTTTCAGCCCTGTTCACCCAGGGTCTTATCAATAAAACGATTGCCACTCTCATTCTGTTTCTGGCTGAACACTAATTCACATTATCCCAGACACGACTTGGTCAAGACTCTGCCTTACTCATAATTTCAAGAAAGTGAGGCTTGACTTTAGGGCACCTGTTCCTCCTTCCCCCAATTTCCATCTTCAGGTTTACTCTCGTTGTGACTTCCCCACTGTGTGTTTCTGCCTTTTCTTGATTTACCGCCAAAGCCTGTTTTCAGGCATAGATTGGATAACCTTTTTATGCCAAAGACACGAACGGATGTAAGGTGTTCACTATTTTATCTTGTTGTGAGCCGGAAGGAATTACACTGGGATAGTGAAATTGTAGGCATGGGGAGAACTTGGGTCCTTTCTGTCTTCTAAAATCATTTCACAAGAGTGGTTGCCTCTGTTGGGCATCTTTTACCTTGTCTTGGTTTGGGAGCCTCGAGGGATGGGATGACCTCCAACCTTTAACCTACCATGAAGTTCCGGCTTCTATCTGGAACTTCAGAGACCAGTGCTTCTAGGGGACTATACTTTTGATTTTCATTGCTCCCAAGAAATATGTATTCCTTCTTCCCTGGGTTATATTTAAATGGCTAAGAAAATAATCTTATCCTGTTTGATACTATGGGAAAATAAAACAAAACAAAACTCATGACTTTTTTTTTTTAAATTTAGATCACCAAGTCTTAGACTGTTGAGACTTTGAGCTAAAACAAATAGGTTTTGTAATCATTTTTTTAAATGACCTCCCTCCAGCCTCCAACCCCTCCCTTTGTTTTTGATTTAAAAAATGTTAGCTAGGTAAAAATTCTTTATTAATGAGCAGGCAGAAAGGACACCCCAACTTGAGCTTAATGTTTCTCCAAGGCTGTAGAAATGACTTGTGAATGAAAATCATTACCAGTGATGAAGACATACTGAAATAAATGTATTTTTAAAAATATTCACTGAATTAATTGTAATATCGTCTGGGTCTAGAGAGGCAAATGCCTCTGAAAAATGATGCATGACACTGAAGAGAATAATTCTGTTCTCATATGCTTTCCTCTACAGATTGGATGTTGGGTGGATTAAAAACCAGAGGGGAAACTGGAGAGGGAAAGATTGTTCATTATGTTCTGATCTCTAATTGCTCAGGGGCATTGAGAAATGTGGAAAAATGAATATGAGACCACCTGCTATAAT
Task1_train_9983
Given this variant in gene F13A1 (coagulation factor XIII A chain) on Chromosome 6, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Factor XIII, A subunit, deficiency of
ATCTGAATACCTTTCTTGCCATATGTACCTACTGATTAAACTTAATCCAAATGCCCTCCCTGCCTCCCAGGACACCAGACATCAGGGCTCATTGAAAATAATTCAGCTGACAATTTTAAGATTAATGACTTGGCTTGCCTTTTTATTTTCTCCTTCAGAATAGTTTAGCATTTTTAACCAAAGACTACCCACCTCCTTCAACAGAACAACCTTGGAAGTCCAAACTGGAGTCTGGTAGAGATTCAAGGGTCCCCCTCCTTAAAGGACTTGATCTTAATGCCCCAAACAACAGTGGCAGCTGCCACGGGCCTCCCGTTCCCATTTTCCTTTCTTGATTTTCAGCCCTGTTCACCCAGGGTCTTATCAATAAAACGATTGCCACTCTCATTCTGTTTCTGGCTGAACACTAATTCACATTATCCCAGACACGACTTGGTCAAGACTCTGCCTTACTCATAATTTCAAGAAAGTGAGGCTTGACTTTAGGGCACCTGTTCCTCCTTCCCCCAATTTCCATCTTCAGGTTTACTCTCGTTGTGACTTCCCCACTGTGTGTTTCTGCCTTTTCTTGATTTACCGCCAAAGCCTGTTTTCAGGCATAGATTGGATAACCTTTTTATGCCAAAGACACGAACGGATGTAAGGTGTTCACTATTTTATCTTGTTGTGAGCCGGAAGGAATTACACTGGGATAGTGAAATTGTAGGCATGGGGAGAACTTGGGTCCTTTCTGTCTTCTAAAATCATTTCACAAGAGTGGTTGCCTCTGTTGGGCATCTTTTACCTTGTCTTGGTTTGGGAGCCTCGAGGGATGGGATGACCTCCAACCTTTAACCTACCATGAAGTTCCGGCTTCTATCTGGAACTTCAGAGACCAGTGCTTCTAGGGGACTATACTTTTGATTTTCATTGCTCCCAAGAAATATGTATTCCTTCTTCCCTGGGTTATATTTAAATGGCTAAGAAAATAATCTTATCCTGTTTGATACTATGGGAAAATAAAACAAAACAAAACTCATGACTTTTTTTTTTTAAATTTAGATCACCAAGTCTTAGACTGTTGAGACTTTGAGCTAAAACAAATAGGTTTTGTAATCATTTTTTTAAATGACCTCCCTCCAGCCTCCAACCCCTCCCTTTGTTTTTGATTTAAAAAATGTTAGCTAGGTAAAAATTCTTTATTAATGAGCAGGCAGAAAGGACACCCCAACTTGAGCTTAATGTTTCTCCAAGGCTGTAGAAATGACTTGTGAATGAAAATCATTACCAGTGATGAAGACATACTGAAATAAATGTATTTTTAAAAATATTCACTGAATTAATTGTAATATCGTCTGGGTCTAGAGAGGCAAATGCCTCTGAAAAATGATGCATGACACTGAAGAGAATAATTCTGTTCTCATATGCTTTCCTCTACAGATTGGATGTTGGGTGGATTAAAAACCAGAGGGGAAACTGGAGAGGGAAAGATTGTTCATTATGTTCTGATCTCTAATTGCTCAGGGGCATTGAGAAATGTGGAAAAATGAATATGAGACCACCTGCTATAATACCTTCCATAACTGGGATAAAAATTAAGTGTATATATTTATAAAATTCTCAATAATAAATAAATACGCATATTTATACAACTTCTCAATGATAAATAAGCAATATATATCTTTTGTTATTTATTATTTTAGTTTTAACTGTTTTAGTTTTTTTAAAATGTGGTGGCTGAAAAGAAAATGGCTTTTTTCTCTATATTTTTACTGTAACCCTCTATTTCTTCGGGTGTTAAGTGATGGATTACACAGGATATAGTCTATCATTCTTTCTATAAAGATTCTGCAGTCAAAGAGAAACTATGAGCATATTTGGCCCACTACAATTTAATTATGCATTGACTACATCCCAGAATGGCTCACCCATAAATTCTATAGTGTCAACAGGGGCTGCTATGTCTCTTTGTTAGGTTATAGAAAAAATGTCTTAGAGTGAAGTTTCCTTTATATTAAAAAGAAATTACTCAGTTGGATACTTACATGTGTTAAAGACACCAGCAAAAACCCAGCATTGGCCATACCGGACTGGATTCTCAGAGCTCCGGTATTCCAATAGAATGTCAACGCTTCCAGTCCAGGCCGATGGGGGGACGCCATAGGCATAGATATTGTCCCAGGATCCAACGAGGACACCTTCGTCATCTTTGGCATTCACCTAAATGAGTCCGTGAGAAGTGAGAAGGAAGAAAGTTCATTTAGGTTTGTCTACTCCAGGCTATGCATGGCGCAAGCTATGGCTGCCATTGCCTTCTATATGTTGTGCCCAGTGAAAAGAGTTCCACTTCTGTTCGGTTTACCATTACATTGTTAGAAAAAAAAGATGCAAAAACTAAATACGCAAGAGGAGACCAAGTAACCAAGATTGCCTGTTAAATCGCATATTATAGCAAGGCAAAGTTGAACGGCAGATAGGAGGAGTGTGACACCTACCGGATTGGAAGAAGACATACATAGGACACTTGGTTTGGGCTAGGTTAGTGCTCAAGAATGATGTGGGGAAGAGAGGAAGAAGACCTACAAAAGATAAAATCTCAAGTAGGGAACTTGTCTTGGTGGAAAGATAACTCAAAACTCACAAATGAGAAATTAGTGGTCTAATGGATTTTGACTTTCATTTTGAGTGGTAGACTCTACCGACTTGAAAAAGTTAACAGATGTTGTCATTTTGAGTGGTAGACTCTAATGAATTGAAAAAGTTAACAGATGTTGTCTTGGAATCATTAAGAGTTAAGAAAATAGATTCCCATGGGATGCTTACAGAGGTTTTTTGTTTTTGTTTCTTTTTTCTTTTCTTTTCTCTCTCTCTCTCTCTTTCTTTCTAAGATAAGGTCTCGATCTGTCACACAGGCTGGAATGCAGTGGCACGATCATGGTTCACTGTAGCCTCGAACTCTTAGGCTCAAGTGATCCTCCCACTTCAGGCTCCCGAGTAGCTAGGACTACAGGTGTATGCTCGGCTAATTAAATTTATTTTTTTTGTAGAGCCAGGGTCTCCCTATGTTGCCCAGGCTAGTCTTGACCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTTCCAAAGAGTTGGAATTACAGGCATAAGTCACCATGCCTGGCCCAGAGCTTCTTTTTCCCTTTGTAAAATTCACTTAAGTATTCTTTCTTATGATTGTTTAAACAGATTAAAGTTTTAGAGTTTTCTTAGAAGGTATTTCTGTTTCCATAAAGAACCTGGGATGTTATGGTTTAAATATGGAAGAGACTTTAGCAGAGAAAGGCAATCTTGAATATCTGGATAAAACTTGCCACACCTTCAGACTACATTCATCTTGTAGCAGCAGACCTAAAGTGCAGGAGCAAAGACCTTTTGTGTTTACATAGTAAAACAAAGGCCAAGAGGTAACAGTTTCAAGGCATCTTGCCAGTTTTTTTCTGGGCACTGCTGAATCTACCTCTCTTGGTGTAACGTTGATCATGTTTAATTACAGTCAGAAGAGTTTAGGTGGGGAGTCCAGGAGCTTTTCCAAAAACTGGTGCCATTTCAACAATGTTTACATTGACATTACAATGGTGTGGAGCCTTGCTACTTGAGGCATTCATGGATCAGCAATATTGGCATTCCCTGGGAGCTTGTTAGGAATTCAGAATCTGAGGCCCCTCCCAGAACTCTTGAATAAGAATTTGCATTTTAACAAGATCACTGGGTGATTTGTGTGCACATTCGTTTAGAAGCACAGGTCTGAGTTATAATGCAAAGACATTAGTAAGCAATGTGAAACATATGATTGAAGCATGTGTGTTTTGATTATGAAAATCACAGAAGAGACATTAAAACATGGTGAGCTTTTATGTGTTTGCTGCCTCACCAACTAACAACTCAGCCTCATCACCTGCCTAGACCCCTCTTTTTGACTTGCTGTGTCTAGTTGTAGAGAAGTCTGTCTTCCCCGCTGGTTTATCAATTCATTGGGAACAAAGAAAAAAAATCTCCGTCTTTCTGAGTTTTACCAAGTGTTAGCAAAGACTGGATGCTCTGTAGTTGTTCAATAATCACTTATATAGTCAACAAACAT
ATCTGAATACCTTTCTTGCCATATGTACCTACTGATTAAACTTAATCCAAATGCCCTCCCTGCCTCCCAGGACACCAGACATCAGGGCTCATTGAAAATAATTCAGCTGACAATTTTAAGATTAATGACTTGGCTTGCCTTTTTATTTTCTCCTTCAGAATAGTTTAGCATTTTTAACCAAAGACTACCCACCTCCTTCAACAGAACAACCTTGGAAGTCCAAACTGGAGTCTGGTAGAGATTCAAGGGTCCCCCTCCTTAAAGGACTTGATCTTAATGCCCCAAACAACAGTGGCAGCTGCCACGGGCCTCCCGTTCCCATTTTCCTTTCTTGATTTTCAGCCCTGTTCACCCAGGGTCTTATCAATAAAACGATTGCCACTCTCATTCTGTTTCTGGCTGAACACTAATTCACATTATCCCAGACACGACTTGGTCAAGACTCTGCCTTACTCATAATTTCAAGAAAGTGAGGCTTGACTTTAGGGCACCTGTTCCTCCTTCCCCCAATTTCCATCTTCAGGTTTACTCTCGTTGTGACTTCCCCACTGTGTGTTTCTGCCTTTTCTTGATTTACCGCCAAAGCCTGTTTTCAGGCATAGATTGGATAACCTTTTTATGCCAAAGACACGAACGGATGTAAGGTGTTCACTATTTTATCTTGTTGTGAGCCGGAAGGAATTACACTGGGATAGTGAAATTGTAGGCATGGGGAGAACTTGGGTCCTTTCTGTCTTCTAAAATCATTTCACAAGAGTGGTTGCCTCTGTTGGGCATCTTTTACCTTGTCTTGGTTTGGGAGCCTCGAGGGATGGGATGACCTCCAACCTTTAACCTACCATGAAGTTCCGGCTTCTATCTGGAACTTCAGAGACCAGTGCTTCTAGGGGACTATACTTTTGATTTTCATTGCTCCCAAGAAATATGTATTCCTTCTTCCCTGGGTTATATTTAAATGGCTAAGAAAATAATCTTATCCTGTTTGATACTATGGGAAAATAAAACAAAACAAAACTCATGACTTTTTTTTTTTAAATTTAGATCACCAAGTCTTAGACTGTTGAGACTTTGAGCTAAAACAAATAGGTTTTGTAATCATTTTTTTAAATGACCTCCCTCCAGCCTCCAACCCCTCCCTTTGTTTTTGATTTAAAAAATGTTAGCTAGGTAAAAATTCTTTATTAATGAGCAGGCAGAAAGGACACCCCAACTTGAGCTTAATGTTTCTCCAAGGCTGTAGAAATGACTTGTGAATGAAAATCATTACCAGTGATGAAGACATACTGAAATAAATGTATTTTTAAAAATATTCACTGAATTAATTGTAATATCGTCTGGGTCTAGAGAGGCAAATGCCTCTGAAAAATGATGCATGACACTGAAGAGAATAATTCTGTTCTCATATGCTTTCCTCTACAGATTGGATGTTGGGTGGATTAAAAACCAGAGGGGAAACTGGAGAGGGAAAGATTGTTCATTATGTTCTGATCTCTAATTGCTCAGGGGCATTGAGAAATGTGGAAAAATGAATATGAGACCACCTGCTATAATACCTTCCATAACTGGGATAAAAATTAAGTGTATATATTTATAAAATTCTCAATAATAAATAAATACGCATATTTATACAACTTCTCAATGATAAATAAGCAATATATATCTTTTGTTATTTATTATTTTAGTTTTAACTGTTTTAGTTTTTTTAAAATGTGGTGGCTGAAAAGAAAATGGCTTTTTTCTCTATATTTTTACTGTAACCCTCTATTTCTTCGGGTGTTAAGTGATGGATTACACAGGATATAGTCTATCATTCTTTCTATAAAGATTCTGCAGTCAAAGAGAAACTATGAGCATATTTGGCCCACTACAATTTAATTATGCATTGACTACATCCCAGAATGGCTCACCCATAAATTCTATAGTGTCAACAGGGGCTGCTATGTCTCTTTGTTAGGTTATAGAAAAAATGTCTTAGAGTGAAGTTTCCTTTATATTAAAAAGAAATTACTCAGTTGGATACTTACATGTGTTAAAGACACCAGCAAAAAACCAGCATTGGCCATACCGGACTGGATTCTCAGAGCTCCGGTATTCCAATAGAATGTCAACGCTTCCAGTCCAGGCCGATGGGGGGACGCCATAGGCATAGATATTGTCCCAGGATCCAACGAGGACACCTTCGTCATCTTTGGCATTCACCTAAATGAGTCCGTGAGAAGTGAGAAGGAAGAAAGTTCATTTAGGTTTGTCTACTCCAGGCTATGCATGGCGCAAGCTATGGCTGCCATTGCCTTCTATATGTTGTGCCCAGTGAAAAGAGTTCCACTTCTGTTCGGTTTACCATTACATTGTTAGAAAAAAAAGATGCAAAAACTAAATACGCAAGAGGAGACCAAGTAACCAAGATTGCCTGTTAAATCGCATATTATAGCAAGGCAAAGTTGAACGGCAGATAGGAGGAGTGTGACACCTACCGGATTGGAAGAAGACATACATAGGACACTTGGTTTGGGCTAGGTTAGTGCTCAAGAATGATGTGGGGAAGAGAGGAAGAAGACCTACAAAAGATAAAATCTCAAGTAGGGAACTTGTCTTGGTGGAAAGATAACTCAAAACTCACAAATGAGAAATTAGTGGTCTAATGGATTTTGACTTTCATTTTGAGTGGTAGACTCTACCGACTTGAAAAAGTTAACAGATGTTGTCATTTTGAGTGGTAGACTCTAATGAATTGAAAAAGTTAACAGATGTTGTCTTGGAATCATTAAGAGTTAAGAAAATAGATTCCCATGGGATGCTTACAGAGGTTTTTTGTTTTTGTTTCTTTTTTCTTTTCTTTTCTCTCTCTCTCTCTCTTTCTTTCTAAGATAAGGTCTCGATCTGTCACACAGGCTGGAATGCAGTGGCACGATCATGGTTCACTGTAGCCTCGAACTCTTAGGCTCAAGTGATCCTCCCACTTCAGGCTCCCGAGTAGCTAGGACTACAGGTGTATGCTCGGCTAATTAAATTTATTTTTTTTGTAGAGCCAGGGTCTCCCTATGTTGCCCAGGCTAGTCTTGACCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTTCCAAAGAGTTGGAATTACAGGCATAAGTCACCATGCCTGGCCCAGAGCTTCTTTTTCCCTTTGTAAAATTCACTTAAGTATTCTTTCTTATGATTGTTTAAACAGATTAAAGTTTTAGAGTTTTCTTAGAAGGTATTTCTGTTTCCATAAAGAACCTGGGATGTTATGGTTTAAATATGGAAGAGACTTTAGCAGAGAAAGGCAATCTTGAATATCTGGATAAAACTTGCCACACCTTCAGACTACATTCATCTTGTAGCAGCAGACCTAAAGTGCAGGAGCAAAGACCTTTTGTGTTTACATAGTAAAACAAAGGCCAAGAGGTAACAGTTTCAAGGCATCTTGCCAGTTTTTTTCTGGGCACTGCTGAATCTACCTCTCTTGGTGTAACGTTGATCATGTTTAATTACAGTCAGAAGAGTTTAGGTGGGGAGTCCAGGAGCTTTTCCAAAAACTGGTGCCATTTCAACAATGTTTACATTGACATTACAATGGTGTGGAGCCTTGCTACTTGAGGCATTCATGGATCAGCAATATTGGCATTCCCTGGGAGCTTGTTAGGAATTCAGAATCTGAGGCCCCTCCCAGAACTCTTGAATAAGAATTTGCATTTTAACAAGATCACTGGGTGATTTGTGTGCACATTCGTTTAGAAGCACAGGTCTGAGTTATAATGCAAAGACATTAGTAAGCAATGTGAAACATATGATTGAAGCATGTGTGTTTTGATTATGAAAATCACAGAAGAGACATTAAAACATGGTGAGCTTTTATGTGTTTGCTGCCTCACCAACTAACAACTCAGCCTCATCACCTGCCTAGACCCCTCTTTTTGACTTGCTGTGTCTAGTTGTAGAGAAGTCTGTCTTCCCCGCTGGTTTATCAATTCATTGGGAACAAAGAAAAAAAATCTCCGTCTTTCTGAGTTTTACCAAGTGTTAGCAAAGACTGGATGCTCTGTAGTTGTTCAATAATCACTTATATAGTCAACAAACAT
Task1_train_9984
With a mutation on Chromosome 6 in gene F13A1 (coagulation factor XIII A chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Factor XIII, A subunit, deficiency of
TAATTCAGCTGACAATTTTAAGATTAATGACTTGGCTTGCCTTTTTATTTTCTCCTTCAGAATAGTTTAGCATTTTTAACCAAAGACTACCCACCTCCTTCAACAGAACAACCTTGGAAGTCCAAACTGGAGTCTGGTAGAGATTCAAGGGTCCCCCTCCTTAAAGGACTTGATCTTAATGCCCCAAACAACAGTGGCAGCTGCCACGGGCCTCCCGTTCCCATTTTCCTTTCTTGATTTTCAGCCCTGTTCACCCAGGGTCTTATCAATAAAACGATTGCCACTCTCATTCTGTTTCTGGCTGAACACTAATTCACATTATCCCAGACACGACTTGGTCAAGACTCTGCCTTACTCATAATTTCAAGAAAGTGAGGCTTGACTTTAGGGCACCTGTTCCTCCTTCCCCCAATTTCCATCTTCAGGTTTACTCTCGTTGTGACTTCCCCACTGTGTGTTTCTGCCTTTTCTTGATTTACCGCCAAAGCCTGTTTTCAGGCATAGATTGGATAACCTTTTTATGCCAAAGACACGAACGGATGTAAGGTGTTCACTATTTTATCTTGTTGTGAGCCGGAAGGAATTACACTGGGATAGTGAAATTGTAGGCATGGGGAGAACTTGGGTCCTTTCTGTCTTCTAAAATCATTTCACAAGAGTGGTTGCCTCTGTTGGGCATCTTTTACCTTGTCTTGGTTTGGGAGCCTCGAGGGATGGGATGACCTCCAACCTTTAACCTACCATGAAGTTCCGGCTTCTATCTGGAACTTCAGAGACCAGTGCTTCTAGGGGACTATACTTTTGATTTTCATTGCTCCCAAGAAATATGTATTCCTTCTTCCCTGGGTTATATTTAAATGGCTAAGAAAATAATCTTATCCTGTTTGATACTATGGGAAAATAAAACAAAACAAAACTCATGACTTTTTTTTTTTAAATTTAGATCACCAAGTCTTAGACTGTTGAGACTTTGAGCTAAAACAAATAGGTTTTGTAATCATTTTTTTAAATGACCTCCCTCCAGCCTCCAACCCCTCCCTTTGTTTTTGATTTAAAAAATGTTAGCTAGGTAAAAATTCTTTATTAATGAGCAGGCAGAAAGGACACCCCAACTTGAGCTTAATGTTTCTCCAAGGCTGTAGAAATGACTTGTGAATGAAAATCATTACCAGTGATGAAGACATACTGAAATAAATGTATTTTTAAAAATATTCACTGAATTAATTGTAATATCGTCTGGGTCTAGAGAGGCAAATGCCTCTGAAAAATGATGCATGACACTGAAGAGAATAATTCTGTTCTCATATGCTTTCCTCTACAGATTGGATGTTGGGTGGATTAAAAACCAGAGGGGAAACTGGAGAGGGAAAGATTGTTCATTATGTTCTGATCTCTAATTGCTCAGGGGCATTGAGAAATGTGGAAAAATGAATATGAGACCACCTGCTATAATACCTTCCATAACTGGGATAAAAATTAAGTGTATATATTTATAAAATTCTCAATAATAAATAAATACGCATATTTATACAACTTCTCAATGATAAATAAGCAATATATATCTTTTGTTATTTATTATTTTAGTTTTAACTGTTTTAGTTTTTTTAAAATGTGGTGGCTGAAAAGAAAATGGCTTTTTTCTCTATATTTTTACTGTAACCCTCTATTTCTTCGGGTGTTAAGTGATGGATTACACAGGATATAGTCTATCATTCTTTCTATAAAGATTCTGCAGTCAAAGAGAAACTATGAGCATATTTGGCCCACTACAATTTAATTATGCATTGACTACATCCCAGAATGGCTCACCCATAAATTCTATAGTGTCAACAGGGGCTGCTATGTCTCTTTGTTAGGTTATAGAAAAAATGTCTTAGAGTGAAGTTTCCTTTATATTAAAAAGAAATTACTCAGTTGGATACTTACATGTGTTAAAGACACCAGCAAAAACCCAGCATTGGCCATACCGGACTGGATTCTCAGAGCTCCGGTATTCCAATAGAATGTCAACGCTTCCAGTCCAGGCCGATGGGGGGACGCCATAGGCATAGATATTGTCCCAGGATCCAACGAGGACACCTTCGTCATCTTTGGCATTCACCTAAATGAGTCCGTGAGAAGTGAGAAGGAAGAAAGTTCATTTAGGTTTGTCTACTCCAGGCTATGCATGGCGCAAGCTATGGCTGCCATTGCCTTCTATATGTTGTGCCCAGTGAAAAGAGTTCCACTTCTGTTCGGTTTACCATTACATTGTTAGAAAAAAAAGATGCAAAAACTAAATACGCAAGAGGAGACCAAGTAACCAAGATTGCCTGTTAAATCGCATATTATAGCAAGGCAAAGTTGAACGGCAGATAGGAGGAGTGTGACACCTACCGGATTGGAAGAAGACATACATAGGACACTTGGTTTGGGCTAGGTTAGTGCTCAAGAATGATGTGGGGAAGAGAGGAAGAAGACCTACAAAAGATAAAATCTCAAGTAGGGAACTTGTCTTGGTGGAAAGATAACTCAAAACTCACAAATGAGAAATTAGTGGTCTAATGGATTTTGACTTTCATTTTGAGTGGTAGACTCTACCGACTTGAAAAAGTTAACAGATGTTGTCATTTTGAGTGGTAGACTCTAATGAATTGAAAAAGTTAACAGATGTTGTCTTGGAATCATTAAGAGTTAAGAAAATAGATTCCCATGGGATGCTTACAGAGGTTTTTTGTTTTTGTTTCTTTTTTCTTTTCTTTTCTCTCTCTCTCTCTCTTTCTTTCTAAGATAAGGTCTCGATCTGTCACACAGGCTGGAATGCAGTGGCACGATCATGGTTCACTGTAGCCTCGAACTCTTAGGCTCAAGTGATCCTCCCACTTCAGGCTCCCGAGTAGCTAGGACTACAGGTGTATGCTCGGCTAATTAAATTTATTTTTTTTGTAGAGCCAGGGTCTCCCTATGTTGCCCAGGCTAGTCTTGACCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTTCCAAAGAGTTGGAATTACAGGCATAAGTCACCATGCCTGGCCCAGAGCTTCTTTTTCCCTTTGTAAAATTCACTTAAGTATTCTTTCTTATGATTGTTTAAACAGATTAAAGTTTTAGAGTTTTCTTAGAAGGTATTTCTGTTTCCATAAAGAACCTGGGATGTTATGGTTTAAATATGGAAGAGACTTTAGCAGAGAAAGGCAATCTTGAATATCTGGATAAAACTTGCCACACCTTCAGACTACATTCATCTTGTAGCAGCAGACCTAAAGTGCAGGAGCAAAGACCTTTTGTGTTTACATAGTAAAACAAAGGCCAAGAGGTAACAGTTTCAAGGCATCTTGCCAGTTTTTTTCTGGGCACTGCTGAATCTACCTCTCTTGGTGTAACGTTGATCATGTTTAATTACAGTCAGAAGAGTTTAGGTGGGGAGTCCAGGAGCTTTTCCAAAAACTGGTGCCATTTCAACAATGTTTACATTGACATTACAATGGTGTGGAGCCTTGCTACTTGAGGCATTCATGGATCAGCAATATTGGCATTCCCTGGGAGCTTGTTAGGAATTCAGAATCTGAGGCCCCTCCCAGAACTCTTGAATAAGAATTTGCATTTTAACAAGATCACTGGGTGATTTGTGTGCACATTCGTTTAGAAGCACAGGTCTGAGTTATAATGCAAAGACATTAGTAAGCAATGTGAAACATATGATTGAAGCATGTGTGTTTTGATTATGAAAATCACAGAAGAGACATTAAAACATGGTGAGCTTTTATGTGTTTGCTGCCTCACCAACTAACAACTCAGCCTCATCACCTGCCTAGACCCCTCTTTTTGACTTGCTGTGTCTAGTTGTAGAGAAGTCTGTCTTCCCCGCTGGTTTATCAATTCATTGGGAACAAAGAAAAAAAATCTCCGTCTTTCTGAGTTTTACCAAGTGTTAGCAAAGACTGGATGCTCTGTAGTTGTTCAATAATCACTTATATAGTCAACAAACATATAGGAAATGTATATTTGAGTAAGAATAAGACCTTATGCCTGGAGAGAGATGGTCAAGAAACCAATCAAGTGGATGTAAAGATTACTGGTATTAAGAC
TAATTCAGCTGACAATTTTAAGATTAATGACTTGGCTTGCCTTTTTATTTTCTCCTTCAGAATAGTTTAGCATTTTTAACCAAAGACTACCCACCTCCTTCAACAGAACAACCTTGGAAGTCCAAACTGGAGTCTGGTAGAGATTCAAGGGTCCCCCTCCTTAAAGGACTTGATCTTAATGCCCCAAACAACAGTGGCAGCTGCCACGGGCCTCCCGTTCCCATTTTCCTTTCTTGATTTTCAGCCCTGTTCACCCAGGGTCTTATCAATAAAACGATTGCCACTCTCATTCTGTTTCTGGCTGAACACTAATTCACATTATCCCAGACACGACTTGGTCAAGACTCTGCCTTACTCATAATTTCAAGAAAGTGAGGCTTGACTTTAGGGCACCTGTTCCTCCTTCCCCCAATTTCCATCTTCAGGTTTACTCTCGTTGTGACTTCCCCACTGTGTGTTTCTGCCTTTTCTTGATTTACCGCCAAAGCCTGTTTTCAGGCATAGATTGGATAACCTTTTTATGCCAAAGACACGAACGGATGTAAGGTGTTCACTATTTTATCTTGTTGTGAGCCGGAAGGAATTACACTGGGATAGTGAAATTGTAGGCATGGGGAGAACTTGGGTCCTTTCTGTCTTCTAAAATCATTTCACAAGAGTGGTTGCCTCTGTTGGGCATCTTTTACCTTGTCTTGGTTTGGGAGCCTCGAGGGATGGGATGACCTCCAACCTTTAACCTACCATGAAGTTCCGGCTTCTATCTGGAACTTCAGAGACCAGTGCTTCTAGGGGACTATACTTTTGATTTTCATTGCTCCCAAGAAATATGTATTCCTTCTTCCCTGGGTTATATTTAAATGGCTAAGAAAATAATCTTATCCTGTTTGATACTATGGGAAAATAAAACAAAACAAAACTCATGACTTTTTTTTTTTAAATTTAGATCACCAAGTCTTAGACTGTTGAGACTTTGAGCTAAAACAAATAGGTTTTGTAATCATTTTTTTAAATGACCTCCCTCCAGCCTCCAACCCCTCCCTTTGTTTTTGATTTAAAAAATGTTAGCTAGGTAAAAATTCTTTATTAATGAGCAGGCAGAAAGGACACCCCAACTTGAGCTTAATGTTTCTCCAAGGCTGTAGAAATGACTTGTGAATGAAAATCATTACCAGTGATGAAGACATACTGAAATAAATGTATTTTTAAAAATATTCACTGAATTAATTGTAATATCGTCTGGGTCTAGAGAGGCAAATGCCTCTGAAAAATGATGCATGACACTGAAGAGAATAATTCTGTTCTCATATGCTTTCCTCTACAGATTGGATGTTGGGTGGATTAAAAACCAGAGGGGAAACTGGAGAGGGAAAGATTGTTCATTATGTTCTGATCTCTAATTGCTCAGGGGCATTGAGAAATGTGGAAAAATGAATATGAGACCACCTGCTATAATACCTTCCATAACTGGGATAAAAATTAAGTGTATATATTTATAAAATTCTCAATAATAAATAAATACGCATATTTATACAACTTCTCAATGATAAATAAGCAATATATATCTTTTGTTATTTATTATTTTAGTTTTAACTGTTTTAGTTTTTTTAAAATGTGGTGGCTGAAAAGAAAATGGCTTTTTTCTCTATATTTTTACTGTAACCCTCTATTTCTTCGGGTGTTAAGTGATGGATTACACAGGATATAGTCTATCATTCTTTCTATAAAGATTCTGCAGTCAAAGAGAAACTATGAGCATATTTGGCCCACTACAATTTAATTATGCATTGACTACATCCCAGAATGGCTCACCCATAAATTCTATAGTGTCAACAGGGGCTGCTATGTCTCTTTGTTAGGTTATAGAAAAAATGTCTTAGAGTGAAGTTTCCTTTATATTAAAAAGAAATTACTCAGTTGGATACTTACATGTGTTAAAGACACCAGCAAAAACCCAGCATTGGCCATACCGGACTGGATTCTCAGAGCTCCGGTATTCCAATAGAATGTCAACGCTTCCAGTCCAGGCCGATGGGGGGACGCCATAGGCACAGATATTGTCCCAGGATCCAACGAGGACACCTTCGTCATCTTTGGCATTCACCTAAATGAGTCCGTGAGAAGTGAGAAGGAAGAAAGTTCATTTAGGTTTGTCTACTCCAGGCTATGCATGGCGCAAGCTATGGCTGCCATTGCCTTCTATATGTTGTGCCCAGTGAAAAGAGTTCCACTTCTGTTCGGTTTACCATTACATTGTTAGAAAAAAAAGATGCAAAAACTAAATACGCAAGAGGAGACCAAGTAACCAAGATTGCCTGTTAAATCGCATATTATAGCAAGGCAAAGTTGAACGGCAGATAGGAGGAGTGTGACACCTACCGGATTGGAAGAAGACATACATAGGACACTTGGTTTGGGCTAGGTTAGTGCTCAAGAATGATGTGGGGAAGAGAGGAAGAAGACCTACAAAAGATAAAATCTCAAGTAGGGAACTTGTCTTGGTGGAAAGATAACTCAAAACTCACAAATGAGAAATTAGTGGTCTAATGGATTTTGACTTTCATTTTGAGTGGTAGACTCTACCGACTTGAAAAAGTTAACAGATGTTGTCATTTTGAGTGGTAGACTCTAATGAATTGAAAAAGTTAACAGATGTTGTCTTGGAATCATTAAGAGTTAAGAAAATAGATTCCCATGGGATGCTTACAGAGGTTTTTTGTTTTTGTTTCTTTTTTCTTTTCTTTTCTCTCTCTCTCTCTCTTTCTTTCTAAGATAAGGTCTCGATCTGTCACACAGGCTGGAATGCAGTGGCACGATCATGGTTCACTGTAGCCTCGAACTCTTAGGCTCAAGTGATCCTCCCACTTCAGGCTCCCGAGTAGCTAGGACTACAGGTGTATGCTCGGCTAATTAAATTTATTTTTTTTGTAGAGCCAGGGTCTCCCTATGTTGCCCAGGCTAGTCTTGACCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTTCCAAAGAGTTGGAATTACAGGCATAAGTCACCATGCCTGGCCCAGAGCTTCTTTTTCCCTTTGTAAAATTCACTTAAGTATTCTTTCTTATGATTGTTTAAACAGATTAAAGTTTTAGAGTTTTCTTAGAAGGTATTTCTGTTTCCATAAAGAACCTGGGATGTTATGGTTTAAATATGGAAGAGACTTTAGCAGAGAAAGGCAATCTTGAATATCTGGATAAAACTTGCCACACCTTCAGACTACATTCATCTTGTAGCAGCAGACCTAAAGTGCAGGAGCAAAGACCTTTTGTGTTTACATAGTAAAACAAAGGCCAAGAGGTAACAGTTTCAAGGCATCTTGCCAGTTTTTTTCTGGGCACTGCTGAATCTACCTCTCTTGGTGTAACGTTGATCATGTTTAATTACAGTCAGAAGAGTTTAGGTGGGGAGTCCAGGAGCTTTTCCAAAAACTGGTGCCATTTCAACAATGTTTACATTGACATTACAATGGTGTGGAGCCTTGCTACTTGAGGCATTCATGGATCAGCAATATTGGCATTCCCTGGGAGCTTGTTAGGAATTCAGAATCTGAGGCCCCTCCCAGAACTCTTGAATAAGAATTTGCATTTTAACAAGATCACTGGGTGATTTGTGTGCACATTCGTTTAGAAGCACAGGTCTGAGTTATAATGCAAAGACATTAGTAAGCAATGTGAAACATATGATTGAAGCATGTGTGTTTTGATTATGAAAATCACAGAAGAGACATTAAAACATGGTGAGCTTTTATGTGTTTGCTGCCTCACCAACTAACAACTCAGCCTCATCACCTGCCTAGACCCCTCTTTTTGACTTGCTGTGTCTAGTTGTAGAGAAGTCTGTCTTCCCCGCTGGTTTATCAATTCATTGGGAACAAAGAAAAAAAATCTCCGTCTTTCTGAGTTTTACCAAGTGTTAGCAAAGACTGGATGCTCTGTAGTTGTTCAATAATCACTTATATAGTCAACAAACATATAGGAAATGTATATTTGAGTAAGAATAAGACCTTATGCCTGGAGAGAGATGGTCAAGAAACCAATCAAGTGGATGTAAAGATTACTGGTATTAAGAC
Task1_train_9985
The variant affects gene F13A1 (coagulation factor XIII A chain), which is on Chromosome 6. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Factor XIII, A subunit, deficiency of
GAAAGATTCACAGAGGTATTCTAAGGTTTAAAGGAGCTAATAGAGGTGAAAGTGTTTTTGAAAACCATTGAATATTTTGTGTATATAAACAAGGGTATGACGGAAATGGAAATATTGCTCAAAATGTCTCAGGTCAGGACCTCTACCCCTTAACACCCAAATTCTCCCCCTCCAAAAATAAAACCAAACCGTTTTCCAAATGGATTTTCTCTGTCTAGTTTTAAATCTTTTAATTGGGATATAAATTTTCAAACTTAGAACTTCATAGGCTTTACATGATTAATAAAATCTCAGGGCAATTTGCATTAGGAGTATGTGTGCTTATTCAATAATTAACAGCTTCCGCTTAGCCAGCTGCCACCACAGACACATTAGGTTAACTGCTTCCTGTCTGCTTCTCTTTTGCACTGGCTTCTGCTAGGCAGTGATTTCTGACTTCTGGGTGCGTAAAAGTACACACAGTGTGTGAGTAAGCTTATGCTGATGAGTGTGCCATTTTAGAATGCTTAAGAAGGAATTAATTTAAATTTAACCACTGCTAGCTGTTGCTTCCTTTCTTACTGCAAAATTGTTATGGTAACTTCAAAGAAGAAAAAGAGAAATCTTGTGGGCGAAACAGTAAAAATAGTGATCAGATGCAAGTCTAATATATTTGTTATAAACGGTCATGACACTTTGGTAAACATTTCCCAAATTCAACATTCCCCCAAATCTTTGGAATTCATTGGCTTCCCATTATGGAATGTAAATGCATAGGAAACAAAACTGCCTTTACATGTTGGTTTCTATTTTTACTTTTTATGCTCTGCTGTTTCTTAAATTCACATGTAGCTTAGTTATTAATAAAATAAAAGCCACCATTCTTAAAAGCTAACCAGAAATTATATTTCATATCATTCACAGTCTAATATTTTTATATTAACAATATTGATTTCATTTAGCTCAAAAGAATATACAAACCAAACTCAAACATAACATTCTTTCAAAAAGAGGATTTCTTAGAAAACTTAGGGAAATTGGTAATATAAGTATTTCTTTTTTTCAGTCTTTGATTGTTTGAAATACCACCCAGTTTAACATTTCTTCAGAAATAATCTACTCTTCAGCCAGATTGGGTCTACTTCTCTGTACCAACATCTGGCTCTCCATGTTGGGTACATTGATATAATCCAGGACTGCATGGGTCCTGGACATCCCATTTAATCCACGTCCTATGCCTGGCCCACCCTTCCCACTCATGGGAGTTCTATCTCCTTTCTCAGAAAGTTGTTCCACTGCAAGATCTCTGCATTCTCAAAGTTGTTTTAGGATATCCTGCAGAGAGCGGCATGAAAAGTAGAAAATGTCTAGATTTGAAGTCAGCAGACCGGAGTTCTAGCTGTGGCTTTGTCACTGAAAGCTGTCCTTACCCTGTGTCCTAACTTGTAAAAGTGCATGAGTAATGGCTGCCCTACTTACCACACAGGATCCTGCAAAGAATCAATACCCACTTCGTAAGTGAGAAAGCCCTACAGTGACACATCCTTGTGACAGGAGTTAGGATGAGATGTAGCCATTCATTTCTTCACTCTTACTATCAGTGTGAAAATTGAGAAAAGCTGTGCCTTGCACATCTTCTGTGCACCTTGATGTTTGGTTGATCAACTGTTTGATTATAGTCATTGACATTTTTGTCATGATCACTCCTCAGTCTCTAGGCAAGGGGTTCTTAAGAATAACTGGTCTACAGTATCATTATATCTATCATTGTTTTCTAAAGCCAAAGAAACATACAGTATTGAGACGATAATTTTGTTTTATAGCACATGATAAGCTCAGAAAATTCCAGGAGCTATAACTGGGTGTCAGAAGCTAGAATCTTACAAATGAAAGTTTATTAAGTGTAAGTCATCATTTCAGCAGCTCTTAATGAACTGGCATATATACTGAGGCAAATGACAGGTGTAACAGATTTTAGGTATCAGTAATTGCTGCTTACCATTGCAGACCCCACACGGCTGACTTTGATGGGATTCCCTCTTCCAGAGAGGTCCATTTGTGCTCTGTCCATCACATACAGGCAAGTGTCCAGGATGCCATCTTCAAACTATTTGGAGAAAGAAAAACAAAGAGAAACTAGTGTTCACTCTGCAAGCAAAATATTCTCTGATGAAAAATAACATGAAACCACAACCTAATGTTTAGAAATGTGTGTTTCCTGTATAGTGATCTCCCATAATCTTTAGTATGAAATATTAAAGTAGAAGGAATGAGACATCTTCTTTTGTTTTTCATTAAAGTGAATAAGAATATAAAAGCAAGCCAGAAACATAAACAGAAATACTAGAGAGTTGATATACTCAGGGATCATAAGCTGACTTGAAGTTCTTCAGAAAATGATTCAATTTAGAAGGTCTTTTCAACATATTGGCTCCTGTACCCAAGAAGAAGGAATGAATCATTTACCAAAGTCAGGCCAGAGTCTTAGGACCTCGAAAGTAATGTGAATCCTCGTGCATTTAGAAAATAAAGAGCTCTCAGGTGTATCACAGGAAGGTGCTTCACACTACTTAGTTTGCACCCAAAATAGTAGGAGACCTCATATAGTGACTGTCCCTCTAAGGTTTCCCCTCTTCTGAGACAAGGTGGACCCCAGGATCAAGGAGAGGGCAGAAGGCTGCAGAAAGTAGATTACACTATCAAGGGAGGAGTCTGGTACCAGTTCAGTCTTCTTAGAAAGAACTGCTAGCCACAGGCAATACCAGAATTTTCTTAAAAAGGAATAAAGATCAAATAGCAAGACAGGAAGATTTTACCTATACTGTACCTCACTGTAGTAAGAGATTTTCCTGAATAGAGAAACCTTGTGTGCTATCCACCCAAGTGCTTGTGACAGAAACCACAATCATAATGGCTAATTACCACACAATTCTTTATTCAGTCCAGTTAGAATACCCACTCTGGGTGTATCCCAAACTGACAGGATGGATGCAGTAATGGGTAATTGCACTAGTTCTTCAGGTATGCAAATAGCTCAGTATTTTGGTTCTTATTAAGCAGCTTCTCTCAGCTGTGTTTGCTGGGCAGGATAGCAACTAACTGGAGAGTTAAGGAAATAGTCATAGAACGGATTGATTCCCTGCATCACTGTAAACATGCTTGGCTGGTTATTCTGGCCAAAGGATACACACCAATAGCCTCTTTGAGTGGCAGAAGATACAATCAAGTGACTGTGCTCCAGGGTGCCTACCCAAAGGCAAGCTGGCGAAGAGTGCCCTGACTGGGCTTGGGACACTTTTCCAGACCTCCTTGCTGCCCACCTTGATGACTTTTCCCCTTGTTAGCTATCTATAGATTGTCATATTTGGGCCATAAATAGAATCACCAGGCTAAAGGCTAGAAATTGGGGACCCAAGACAAGGGCATCAGGCAGTAGGCAGTATAGTCAAAGGTTGCATGTCACTGAGGAGGGGATGGCTTGAAACCAGGGAGTCAGGCAGGAATCCAAGAACAGGGGGTGCCAACTAGCTTGTAGCTTGGCAGGACATTAGAAATGCAGGCGGGGAAGCCTGAGCACTGGGCATGTAATTCTCCGGAGTCAGGGAAGCTGTTCACAAAGCCAGGTAGGCAGGATAACACGGGTACTGGAGCAGTGGGTAAGGAACACAGGGAGATCCCATATGGAAGTCAAAGCAAGGCATCCGGAGCCAAGAAAGTACCCTGTGACCACCAGATTCCATGAAAACTCCCTGCTGGATGCCCAGCGCAATGATGCACAGTTCCAGCCATCCCAGCCAAAACTCCTGAGAAATGACATTCGCCCCCGCTTGTGTCGCTAATTAAAAATCATTTTGAAATCACAGGACATGCATTCATTTATGGAAAATTGGTAAAATATCATTCATTTGCTCCATTGTTAAAGATACCAAACTGAAATAGTTTGAATGACTGAACATCTTAAAGAAATGCCATTTGCTACTTTGTGTCTAGACAATCAACTTGCAGCTGATAAAATCTTTCTATGTAAAAGCTCAGTGGCCCTTCCTTTGATGAAATGATAACACTCTTTTCTAATTAGCAGTACCCTAGGCTAACACTTAAAAAAAAAAAAAAAGAA
GAAAGATTCACAGAGGTATTCTAAGGTTTAAAGGAGCTAATAGAGGTGAAAGTGTTTTTGAAAACCATTGAATATTTTGTGTATATAAACAAGGGTATGACGGAAATGGAAATATTGCTCAAAATGTCTCAGGTCAGGACCTCTACCCCTTAACACCCAAATTCTCCCCCTCCAAAAATAAAACCAAACCGTTTTCCAAATGGATTTTCTCTGTCTAGTTTTAAATCTTTTAATTGGGATATAAATTTTCAAACTTAGAACTTCATAGGCTTTACATGATTAATAAAATCTCAGGGCAATTTGCATTAGGAGTATGTGTGCTTATTCAATAATTAACAGCTTCCGCTTAGCCAGCTGCCACCACAGACACATTAGGTTAACTGCTTCCTGTCTGCTTCTCTTTTGCACTGGCTTCTGCTAGGCAGTGATTTCTGACTTCTGGGTGCGTAAAAGTACACACAGTGTGTGAGTAAGCTTATGCTGATGAGTGTGCCATTTTAGAATGCTTAAGAAGGAATTAATTTAAATTTAACCACTGCTAGCTGTTGCTTCCTTTCTTACTGCAAAATTGTTATGGTAACTTCAAAGAAGAAAAAGAGAAATCTTGTGGGCGAAACAGTAAAAATAGTGATCAGATGCAAGTCTAATATATTTGTTATAAACGGTCATGACACTTTGGTAAACATTTCCCAAATTCAACATTCCCCCAAATCTTTGGAATTCATTGGCTTCCCATTATGGAATGTAAATGCATAGGAAACAAAACTGCCTTTACATGTTGGTTTCTATTTTTACTTTTTATGCTCTGCTGTTTCTTAAATTCACATGTAGCTTAGTTATTAATAAAATAAAAGCCACCATTCTTAAAAGCTAACCAGAAATTATATTTCATATCATTCACAGTCTAATATTTTTATATTAACAATATTGATTTCATTTAGCTCAAAAGAATATACAAACCAAACTCAAACATAACATTCTTTCAAAAAGAGGATTTCTTAGAAAACTTAGGGAAATTGGTAATATAAGTATTTCTTTTTTTCAGTCTTTGATTGTTTGAAATACCACCCAGTTTAACATTTCTTCAGAAATAATCTACTCTTCAGCCAGATTGGGTCTACTTCTCTGTACCAACATCTGGCTCTCCATGTTGGGTACATTGATATAATCCAGGACTGCATGGGTCCTGGACATCCCATTTAATCCACGTCCTATGCCTGGCCCACCCTTCCCACTCATGGGAGTTCTATCTCCTTTCTCAGAAAGTTGTTCCACTGCAAGATCTCTGCATTCTCAAAGTTGTTTTAGGATATCCTGCAGAGAGCGGCATGAAAAGTAGAAAATGTCTAGATTTGAAGTCAGCAGACCGGAGTTCTAGCTGTGGCTTTGTCACTGAAAGCTGTCCTTACCCTGTGTCCTAACTTGTAAAAGTGCATGAGTAATGGCTGCCCTACTTACCACACAGGATCCTGCAAAGAATCAATACCCACTTCGTAAGTGAGAAAGCCCTACAGTGACACATCCTTGTGACAGGAGTTAGGATGAGATGTAGCCATTCATTTCTTCACTCTTACTATCAGTGTGAAAATTGAGAAAAGCTGTGCCTTGCACATCTTCTGTGCACCTTGATGTTTGGTTGATCAACTGTTTGATTATAGTCATTGACATTTTTGTCATGATCACTCCTCAGTCTCTAGGCAAGGGGTTCTTAAGAATAACTGGTCTACAGTATCATTATATCTATCATTGTTTTCTAAAGCCAAAGAAACATACAGTATTGAGACGATAATTTTGTTTTATAGCACATGATAAGCTCAGAAAATTCCAGGAGCTATAACTGGGTGTCAGAAGCTAGAATCTTACAAATGAAAGTTTATTAAGTGTAAGTCATCATTTCAGCAGCTCTTAATGAACTGGCATATATACTGAGGCAAATGACAGGTGTAACAGATTTTAGGTATCAGTAATTGCTGCTTACCATTGCAGACCCCACACGGCTGACTTTGATGGGATTCCCTCTTCCAGAGAGGTCCATTTGTGCTCTGTCCGTCACATACAGGCAAGTGTCCAGGATGCCATCTTCAAACTATTTGGAGAAAGAAAAACAAAGAGAAACTAGTGTTCACTCTGCAAGCAAAATATTCTCTGATGAAAAATAACATGAAACCACAACCTAATGTTTAGAAATGTGTGTTTCCTGTATAGTGATCTCCCATAATCTTTAGTATGAAATATTAAAGTAGAAGGAATGAGACATCTTCTTTTGTTTTTCATTAAAGTGAATAAGAATATAAAAGCAAGCCAGAAACATAAACAGAAATACTAGAGAGTTGATATACTCAGGGATCATAAGCTGACTTGAAGTTCTTCAGAAAATGATTCAATTTAGAAGGTCTTTTCAACATATTGGCTCCTGTACCCAAGAAGAAGGAATGAATCATTTACCAAAGTCAGGCCAGAGTCTTAGGACCTCGAAAGTAATGTGAATCCTCGTGCATTTAGAAAATAAAGAGCTCTCAGGTGTATCACAGGAAGGTGCTTCACACTACTTAGTTTGCACCCAAAATAGTAGGAGACCTCATATAGTGACTGTCCCTCTAAGGTTTCCCCTCTTCTGAGACAAGGTGGACCCCAGGATCAAGGAGAGGGCAGAAGGCTGCAGAAAGTAGATTACACTATCAAGGGAGGAGTCTGGTACCAGTTCAGTCTTCTTAGAAAGAACTGCTAGCCACAGGCAATACCAGAATTTTCTTAAAAAGGAATAAAGATCAAATAGCAAGACAGGAAGATTTTACCTATACTGTACCTCACTGTAGTAAGAGATTTTCCTGAATAGAGAAACCTTGTGTGCTATCCACCCAAGTGCTTGTGACAGAAACCACAATCATAATGGCTAATTACCACACAATTCTTTATTCAGTCCAGTTAGAATACCCACTCTGGGTGTATCCCAAACTGACAGGATGGATGCAGTAATGGGTAATTGCACTAGTTCTTCAGGTATGCAAATAGCTCAGTATTTTGGTTCTTATTAAGCAGCTTCTCTCAGCTGTGTTTGCTGGGCAGGATAGCAACTAACTGGAGAGTTAAGGAAATAGTCATAGAACGGATTGATTCCCTGCATCACTGTAAACATGCTTGGCTGGTTATTCTGGCCAAAGGATACACACCAATAGCCTCTTTGAGTGGCAGAAGATACAATCAAGTGACTGTGCTCCAGGGTGCCTACCCAAAGGCAAGCTGGCGAAGAGTGCCCTGACTGGGCTTGGGACACTTTTCCAGACCTCCTTGCTGCCCACCTTGATGACTTTTCCCCTTGTTAGCTATCTATAGATTGTCATATTTGGGCCATAAATAGAATCACCAGGCTAAAGGCTAGAAATTGGGGACCCAAGACAAGGGCATCAGGCAGTAGGCAGTATAGTCAAAGGTTGCATGTCACTGAGGAGGGGATGGCTTGAAACCAGGGAGTCAGGCAGGAATCCAAGAACAGGGGGTGCCAACTAGCTTGTAGCTTGGCAGGACATTAGAAATGCAGGCGGGGAAGCCTGAGCACTGGGCATGTAATTCTCCGGAGTCAGGGAAGCTGTTCACAAAGCCAGGTAGGCAGGATAACACGGGTACTGGAGCAGTGGGTAAGGAACACAGGGAGATCCCATATGGAAGTCAAAGCAAGGCATCCGGAGCCAAGAAAGTACCCTGTGACCACCAGATTCCATGAAAACTCCCTGCTGGATGCCCAGCGCAATGATGCACAGTTCCAGCCATCCCAGCCAAAACTCCTGAGAAATGACATTCGCCCCCGCTTGTGTCGCTAATTAAAAATCATTTTGAAATCACAGGACATGCATTCATTTATGGAAAATTGGTAAAATATCATTCATTTGCTCCATTGTTAAAGATACCAAACTGAAATAGTTTGAATGACTGAACATCTTAAAGAAATGCCATTTGCTACTTTGTGTCTAGACAATCAACTTGCAGCTGATAAAATCTTTCTATGTAAAAGCTCAGTGGCCCTTCCTTTGATGAAATGATAACACTCTTTTCTAATTAGCAGTACCCTAGGCTAACACTTAAAAAAAAAAAAAAAGAA
Task1_train_9986
Here is a genetic alteration in F13A1 (coagulation factor XIII A chain) on Chromosome 6. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Hereditary factor XIII deficiency disease
GGTGTTCCTGAAGGCTAGATACTATATCCTATTTCCTTCTTTATCTATATTTTCTCCCTAGGTACAGATAACTCCCAAATATATATCTCTGATTTTCTTCTCCAGATTCACATACCTATTTGTCATTTCTGCTGTCTATCTATGGTTATCTCCAACTTAACATATTCAAAATCTTAATTTATATATCTGTAACTCTGATCCTCTCAGTATTTTTCATCTCTGTAAATATCACCCCATCAACCAGTTGCAAATGCCTCACATCTGGTTTTAAGATTACTATCAAGAGTTCATTTTTTGAACTGCACATGGCCCAGTTAACATTTCCTGTTACCATTTACCTTGAATATCTGTCTCATAGATAGGAGTGTTGGGTACAATATGATGAGGATGGATGTATAGGGAGTGTAGGAATAGCTTGGCGCCTTTTGCCAACACTAGTGGAACAGGTAATTCCCAAGCCATGCTGGGCATGGTGGTTCATGACTGTAATCCCAACACTTTGGGAGGCTCAGGCAGGAGCACTGCTTGAGCCCAAGAGTTCGAGACCAGCCTGGACAACATAGTGACACCACGTCTCTACAAAAAGTAAATAAATATAAATATAAAACAAAGAAAAGATCAGTAGGACCAAGGTGTATGTTCTAGATGAGTAGCAAATATTGTTGTGCACTTATCTATATCTAGGACAGATTAACCCTGATTCAAATGTGACTTTCACATACAAGGATCATTCAAAATCAGCAATAATATGGGCTCATTTTGGATGATGTTAGAGAGCAGTGCATATGGGGTAGGGTGCCATGGGAAGTCTCCTGCCCCATGTGAGCTTTCATATCTTTCACTGCCTTATTTCCTAGGACCTAGAAGTGGTCTCTCCCACATTGATGCTGCTGCAACATCTGCATCTGCCTCTGGAACTTAAAACAGCTTCGTACAAAGTGTGGGAGCAGGGGAGAGGTATGAAAGGGCAGAGATGAAGATGAGGAGAAAATGCTATGTGTGACTGAGGCACAAAACAGAATTGATAGAGAAATCATTGAACTTGACTGAGTTTTATTTGAATATAACTAGATTAAGCTTCTGCCGCAGACAGAAAGGAAGACTGAAAATAGCACTAGAGATCAAGTTATATTATATTAAAGTACAGCTACATCTTTGCACATCCAGAGTTATGGTTTGCAAAATTTGCACCCACTATGCACATAAACAACTTTGTGGAATCCTTTAGATATACAGACTTTCTGTTCTTAAAGTAGGGGGATAGAGAGGTTAGTTCTACTATGAACAGCGTCGACTTTATTTTATTTTTCTGAAGTCAGAGTTATAGACTCTAATAGTTTTGATAATCAAGCTTAATAAGCCCAATTTGTTTACAGAGTAATAGTGTACAGAGGTTATACTGTCAACATATATTAGGTTGGTGAGGTTGGTGCAAAAGTAATTGTGATTTTTGCAATTACTTTTAATTACAAAACTGCAATTAATAGCTCCACAAATAACTAACTGCAACTTTAGACAATCTCCAATTAATCCCGAAATAAATGTATAGCAGCATTGACTTCACATATAGAGGTTTTATCTTCATACACATGGAGGATGAATTTTCTATCTTTCTCTTTCAATCATTAAAGATGGTATATGTAGGAGAGGCATATGTATTTAGAATAATCTTACTACCCCTTCAAAAAGAGATGTATTGGAAATACATGAGCTTGTTTTTTTTCTTTTTTCAAAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTACAGTGGCACAATCATTGCTCACTGTAACCTCCAACTCCCGAACTCAAGCAATTCTCCCACTTCAGCCTCCCAAGTAGCTGGGAGTACAGGTGTGCACCACCACACCCATCTAATTTTTAATTTTTATTTTTTAGAGACTAGGTCTCAAACTCCTGGCCTCAAGCGATCCTCCCATCTTGGCCTCCCAAAGAGCTGGGAGTATAGGCATGTGCCATGGCACCCCGCCAAATAGGTGAATTTTTAAATGAGAAAACTAAATGTCTGCCTCTTACCTTCACACCAAGGATTGAAGAGAATGTACGTGTCTGTTTCTGGGTTTCGACTGGTTCGAAGTACGCCATAGGGAGTCCAGACAGCAACATACATGCGGAATTTCCCCACAATACATTTGGGGGAAGACTGGATGGACAGCCGCACAGACCTGTCCTCTCTCATGACAATCTTGGCCCCCCACTTTCCACTTTGTAACTCTGAGACTATAGGCACTGGGATGTAGGTTCCCTTGTTCTCCTGTGGGTAGCGACCTATGAGAAGAGAGAAGAAATACTCTGTTAGGTTGATTTCACAAGCCATTTTTGTTCTCACTCTGTTATCTTATAGCTGAAGGGACAGGAGTAATCCATTAGAATTATTCTTGACTTGAAGAAACATACAAATCAGGCAAGTCTGCAAATTACTTTGATTGTAAGCAGGAGAACCTTCAAGAGCAAAACTTATTCACTTCATTTGTTTTCTATAAAGCATGTAGAGGATTCCACATTAAGACAAGCAAACAGTGCTCCATTGTAACCTCCCTAATTACTAATTTCAAAGATCTTTAAAAGAGTCTTTGGTAGGCATATTGTCAGAGAGAGAACATTCTAAGGAGGTGGTTACATAAGTTACTGCTGTGCAATTCTGTGAGGATGCTTAATCTTAATGAAAATAATAATTTACACAGTGCAAACCACTGAGAAAGATTAGAACTTCAACACTTTGCTATTAGGGATATAGGTTATACCACTCAGAATGAATATCACATATACTTGTAAATCCAGCACAAATTTAAACATTGTTTTCTGCCTAGGTGCCATGGCATCTAAGTAATGCTCTTGAAGACTCATGGGACTCACCCTCTCAGGAGCCCCTCCATAAACCCACCTGCATAAGCATGTTTGTTCCAGAGGCACCCATCTCCTGTTTCTGCTCCCTCTTCGTGCATACTCAATCTTGGGATGAGCTTGCCCTTTTTACCAGAGGCTTTGTTTTTCTCTGGAACCCCTTTCACTGTTGACGTGTAGACATCAAAGGCAATCTTGCCAGGTAAATGGGACCCATAATTCATTTATTACAGTGGTTCCCAGCAGCTGTTGTCACTAAATACTGATTTAGATTCAGAATACGTCGTATTTAAAAAGATGCAAGTTTAGTAAAAATAAACTTAGAGATAAAAATCTACGTGTTAATGATAGATTTAAAAAAAAATAAGGGATGAAAGGAATTTTAAAGCTAATTATGTAAGGATGCACTTTGGGGAATAGCAAAAAACTAGAGAAGTACATCTGAAAGCACTCTTTGTACCTGTTATGTGCTCAACCTCAGCTTCACCTTTGTGCTAACTTCCACTTTTGTTTTAAAAGCTTCACCTTTGTACTAACTTCTACTTTTGTTGGGAACATGGAAAGAATGAAGACAATCACTAGTTTCCACTGTTACACTTTAAATTAAGACTTCAAAGACTCATATTGAATTTCACCTATCAAATCCAAGTTATACAAAAATAGTAAAGCAAAAGGAAAGCTATGCTTTTTCATGCTGACTTTGAATCCAGTCATAACCTAATTTAAAGACTACTTCTGACATTTTTCATTCATATATTGATATTGCCTACTATGTGCTAGACATTATCCTAAGTGCTAAGGATACAACAGTGAAGAAAACAGACAATAACTTCTGTGCTCATAGAGCTGATATTCCACAGAAAAAGCCAAAGCATGTGGCTTACCATGTTCTTATTACCCCTTTATTCCCTATAACAAAAGATGAGAAGGAAACCATTATCATCATCCTAATTTGACAAATCAGGAAACTAAGAGTCATTAAGCAACTTACCTAGGGTGATACAACTAGCAAATAGTGGAGTTCAGATTTGAACCCAGACCATCTGGTTTGAGAGTCGGCCTGTTCTAAGCTCTATGGCAGCTGTGTGAGTTGAAAATGTTTTGGAGTTGATGAGAACCATGTCAAATTCTGACTCCACTATTAACTACTGGTGCAACTTCAGGCAAATCACTTACTTGTCTTAGCTTCCATTTTCTTGATTCTTTGCAGTTTAGTTTGGGAAATAAA
GGTGTTCCTGAAGGCTAGATACTATATCCTATTTCCTTCTTTATCTATATTTTCTCCCTAGGTACAGATAACTCCCAAATATATATCTCTGATTTTCTTCTCCAGATTCACATACCTATTTGTCATTTCTGCTGTCTATCTATGGTTATCTCCAACTTAACATATTCAAAATCTTAATTTATATATCTGTAACTCTGATCCTCTCAGTATTTTTCATCTCTGTAAATATCACCCCATCAACCAGTTGCAAATGCCTCACATCTGGTTTTAAGATTACTATCAAGAGTTCATTTTTTGAACTGCACATGGCCCAGTTAACATTTCCTGTTACCATTTACCTTGAATATCTGTCTCATAGATAGGAGTGTTGGGTACAATATGATGAGGATGGATGTATAGGGAGTGTAGGAATAGCTTGGCGCCTTTTGCCAACACTAGTGGAACAGGTAATTCCCAAGCCATGCTGGGCATGGTGGTTCATGACTGTAATCCCAACACTTTGGGAGGCTCAGGCAGGAGCACTGCTTGAGCCCAAGAGTTCGAGACCAGCCTGGACAACATAGTGACACCACGTCTCTACAAAAAGTAAATAAATATAAATATAAAACAAAGAAAAGATCAGTAGGACCAAGGTGTATGTTCTAGATGAGTAGCAAATATTGTTGTGCACTTATCTATATCTAGGACAGATTAACCCTGATTCAAATGTGACTTTCACATACAAGGATCATTCAAAATCAGCAATAATATGGGCTCATTTTGGATGATGTTAGAGAGCAGTGCATATGGGGTAGGGTGCCATGGGAAGTCTCCTGCCCCATGTGAGCTTTCATATCTTTCACTGCCTTATTTCCTAGGACCTAGAAGTGGTCTCTCCCACATTGATGCTGCTGCAACATCTGCATCTGCCTCTGGAACTTAAAACAGCTTCGTACAAAGTGTGGGAGCAGGGGAGAGGTATGAAAGGGCAGAGATGAAGATGAGGAGAAAATGCTATGTGTGACTGAGGCACAAAACAGAATTGATAGAGAAATCATTGAACTTGACTGAGTTTTATTTGAATATAACTAGATTAAGCTTCTGCCGCAGACAGAAAGGAAGACTGAAAATAGCACTAGAGATCAAGTTATATTATATTAAAGTACAGCTACATCTTTGCACATCCAGAGTTATGGTTTGCAAAATTTGCACCCACTATGCACATAAACAACTTTGTGGAATCCTTTAGATATACAGACTTTCTGTTCTTAAAGTAGGGGGATAGAGAGGTTAGTTCTACTATGAACAGCGTCGACTTTATTTTATTTTTCTGAAGTCAGAGTTATAGACTCTAATAGTTTTGATAATCAAGCTTAATAAGCCCAATTTGTTTACAGAGTAATAGTGTACAGAGGTTATACTGTCAACATATATTAGGTTGGTGAGGTTGGTGCAAAAGTAATTGTGATTTTTGCAATTACTTTTAATTACAAAACTGCAATTAATAGCTCCACAAATAACTAACTGCAACTTTAGACAATCTCCAATTAATCCCGAAATAAATGTATAGCAGCATTGACTTCACATATAGAGGTTTTATCTTCATACACATGGAGGATGAATTTTCTATCTTTCTCTTTCAATCATTAAAGATGGTATATGTAGGAGAGGCATATGTATTTAGAATAATCTTACTACCCCTTCAAAAAGAGATGTATTGGAAATACATGAGCTTGTTTTTTTTCTTTTTTCAAAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTACAGTGGCACAATCATTGCTCACTGTAACCTCCAACTCCCGAACTCAAGCAATTCTCCCACTTCAGCCTCCCAAGTAGCTGGGAGTACAGGTGTGCACCACCACACCCATCTAATTTTTAATTTTTATTTTTTAGAGACTAGGTCTCAAACTCCTGGCCTCAAGCGATCCTCCCATCTTGGCCTCCCAAAGAGCTGGGAGTATAGGCATGTGCCATGGCACCCCGCCAAATAGGTGAATTTTTAAATGAGAAAACTAAATGTCTGCCTCTTACCTTCACACAAAGGATTGAAGAGAATGTACGTGTCTGTTTCTGGGTTTCGACTGGTTCGAAGTACGCCATAGGGAGTCCAGACAGCAACATACATGCGGAATTTCCCCACAATACATTTGGGGGAAGACTGGATGGACAGCCGCACAGACCTGTCCTCTCTCATGACAATCTTGGCCCCCCACTTTCCACTTTGTAACTCTGAGACTATAGGCACTGGGATGTAGGTTCCCTTGTTCTCCTGTGGGTAGCGACCTATGAGAAGAGAGAAGAAATACTCTGTTAGGTTGATTTCACAAGCCATTTTTGTTCTCACTCTGTTATCTTATAGCTGAAGGGACAGGAGTAATCCATTAGAATTATTCTTGACTTGAAGAAACATACAAATCAGGCAAGTCTGCAAATTACTTTGATTGTAAGCAGGAGAACCTTCAAGAGCAAAACTTATTCACTTCATTTGTTTTCTATAAAGCATGTAGAGGATTCCACATTAAGACAAGCAAACAGTGCTCCATTGTAACCTCCCTAATTACTAATTTCAAAGATCTTTAAAAGAGTCTTTGGTAGGCATATTGTCAGAGAGAGAACATTCTAAGGAGGTGGTTACATAAGTTACTGCTGTGCAATTCTGTGAGGATGCTTAATCTTAATGAAAATAATAATTTACACAGTGCAAACCACTGAGAAAGATTAGAACTTCAACACTTTGCTATTAGGGATATAGGTTATACCACTCAGAATGAATATCACATATACTTGTAAATCCAGCACAAATTTAAACATTGTTTTCTGCCTAGGTGCCATGGCATCTAAGTAATGCTCTTGAAGACTCATGGGACTCACCCTCTCAGGAGCCCCTCCATAAACCCACCTGCATAAGCATGTTTGTTCCAGAGGCACCCATCTCCTGTTTCTGCTCCCTCTTCGTGCATACTCAATCTTGGGATGAGCTTGCCCTTTTTACCAGAGGCTTTGTTTTTCTCTGGAACCCCTTTCACTGTTGACGTGTAGACATCAAAGGCAATCTTGCCAGGTAAATGGGACCCATAATTCATTTATTACAGTGGTTCCCAGCAGCTGTTGTCACTAAATACTGATTTAGATTCAGAATACGTCGTATTTAAAAAGATGCAAGTTTAGTAAAAATAAACTTAGAGATAAAAATCTACGTGTTAATGATAGATTTAAAAAAAAATAAGGGATGAAAGGAATTTTAAAGCTAATTATGTAAGGATGCACTTTGGGGAATAGCAAAAAACTAGAGAAGTACATCTGAAAGCACTCTTTGTACCTGTTATGTGCTCAACCTCAGCTTCACCTTTGTGCTAACTTCCACTTTTGTTTTAAAAGCTTCACCTTTGTACTAACTTCTACTTTTGTTGGGAACATGGAAAGAATGAAGACAATCACTAGTTTCCACTGTTACACTTTAAATTAAGACTTCAAAGACTCATATTGAATTTCACCTATCAAATCCAAGTTATACAAAAATAGTAAAGCAAAAGGAAAGCTATGCTTTTTCATGCTGACTTTGAATCCAGTCATAACCTAATTTAAAGACTACTTCTGACATTTTTCATTCATATATTGATATTGCCTACTATGTGCTAGACATTATCCTAAGTGCTAAGGATACAACAGTGAAGAAAACAGACAATAACTTCTGTGCTCATAGAGCTGATATTCCACAGAAAAAGCCAAAGCATGTGGCTTACCATGTTCTTATTACCCCTTTATTCCCTATAACAAAAGATGAGAAGGAAACCATTATCATCATCCTAATTTGACAAATCAGGAAACTAAGAGTCATTAAGCAACTTACCTAGGGTGATACAACTAGCAAATAGTGGAGTTCAGATTTGAACCCAGACCATCTGGTTTGAGAGTCGGCCTGTTCTAAGCTCTATGGCAGCTGTGTGAGTTGAAAATGTTTTGGAGTTGATGAGAACCATGTCAAATTCTGACTCCACTATTAACTACTGGTGCAACTTCAGGCAAATCACTTACTTGTCTTAGCTTCCATTTTCTTGATTCTTTGCAGTTTAGTTTGGGAAATAAA
Task1_train_9987
A mutation in F13A1 (coagulation factor XIII A chain), located on Chromosome 6, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Factor XIII, A subunit, deficiency of
TGATGTTTTGATCAATATGTGATGTTTTGATCAAAATATACATTGTGGATTGATTAATTCAAGCTAATTAACATATTCATTCCTTCACATACCATTTCTTTGTGGTGAGAATATTTAAAATCTACTCTTTTAGTAATTTGGAAATATACATTATTATTAACTATAGTCACCATGCTGTGGAATAGGTCACTAAAACTCATTCCTTCCATCTAACTGAAATTTTGTATTCTTTGACCAACCCCTTGGGAGACTAAAAATGTATACAGAAAGACTTCCCACTCAAGAACATGTTTGACTTTTCATTGGTTTCTCATGTTTTTTATTAAGATTTAATAGCTGGTTTATATAGGTTGCGTGTTCAGGTTTTAGTCCTACATTTTATAGTTTTGGTCATGTGAAATTTTTTTATGTCTATTTCTGGGTGCTTAGTGCTGGGGAAGATAAAAGTTATTGATTTTTATATATTTATCTTCTATCTAGCCAACTTACAAAGTTTTATTAATACAGTGCTTTTTTCCCTTGAATCTGTTGGGTTTTCTACATACACAATCATAGTATTAGCAAATATATAGTTTTACTTCTTAGTTTCCAGCATTTATAGCAGATGTATCTCTTACATTGTTCATTTACTAAAACCTTTAAAGTACTTCTTTTTAAAAAGGGAATGATGATAGCAGGCATTTCTTTCTAATTTCTGATTACAGTGAAATTTGTTAACTTTTTTCCACTTAGATATCAAAAGTTGTTGTTTTGATGTAAGCAATCTTTATTATCATTGAGGTGTTTTTTTTCTAAATTTTTCCCCTTAAACTCTTCCTAAAACTGGATGCTGAATTTTACCATGTACCTTTCTGTGACTGCTGATTTGATTGCCTAATTTTTTCCTTTAATTTGTGCATAGGATTATATGGGCAGATTTCCTATGTTGTGCCACCCCTGCTTCTCTGTGCATGTATTTCCTTGATAATCTTATAAATTCCTATAGAAATGTTTACCAAAATGTGTCAAAAGTTAATAGCTATAACTTAATAAAAGGGTTCCATGATCAAATTAATTTAAGAAGCACCAGACCAAAGTTAAATGGTCCTTCCCCAGACCTTTGAAGCTAATGTGCATCGTTAATCTTCAAGAGGAGGTTAAAGGCTGGGCATGGTGTCTCATGCCTGCAATCCCAGCACTTTGGGAAGCTGAGGTGGGTGGATAACTTGAGGTTAGGAGTGCGAAACCAGCCTGGACAACATGGTGAAACTCTGCCTCTACCAAAAATACATAAAATTAGCTGGGCGTAATGGTGTGCAACTGTGGTCCCAGCTACTCTGGAGGCTGAGGCACCAGAATCGCTTGAACCTAGGAGGAAGAGGTTGCAGTGAGCTGAGATCACACCACTGTTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAGGGTGATTAAAGTACAAAGTGTTTAGTGAAGTTTATTGGACTATATTTTTCACGGGCCATCCCATGGGACTAGATCAGAGCAGAATCAACTTTCGGAATGCATACTTGGATTGCATGCTAAGATTTACAAACATTTTCAGCACGAGACCAATTAAATCATGGAGATAAAAGTTAGAATCATAGGATGCCAAAACCATTTGTTTGAGGAAGAATAATTTAGTTAAGCAACACATTATACCAGTTTTACTTTTATTTATATGAGATTTTCTCCTTGGGTGGGCCCAAGTTATCAATATTTGGCACTATACAGACCAGTCTTAGAGCACAGGGTAATTCAGGGGCTGGATGTCATTCCAGCTCCTGCCACTGTTGACATATGACACTAGGAAATCACACAACTGTGCCTGTACCCACCTCTCTCTACAATGCAACCCATGGTGTCAAGACTGGAGCTTGCACATGGCACTCACCAATGACGTATTCCACCCTGAAGAGATCCCTTCTGGGGTCATATGGACGACTGAAGTCAATCTGCACATAGAAAGACTGCCCTCTGCGGACAATCAGCTTGTTGTTTTCATACTTGTCAGTGTGGTGGTCCACCTTGTTAGTGTCCCATCTCTCCTTGAACAGGTGAACGCTCGTGACATTAAGAAACTCTATGAACAAGAAAAACAAGGGTTGAAGAAAATAATCAACTAACTTTAGTTTAAACATAAACTCAAAAACAAGATTATTTTCCCTGAAGAAGGCAGGTAGCAAGGTCTGCTGAATGAAACTCTGTAGGAGGCAGGGGTAGGGGAACACAGTCTCGAGAGTCAGCCTCTTGTGACATTCTTGTTTTTGAAGAGAGCTTTTTAAAGCTTTTTCCACCTTTGATCTCGTTTCAGACCACAAGGCACTCACTGTGGGATAGATGGATGCCTGTCTGGGAGATCCAAATACAGAGAAGCTAGGGCCAGAGTTGAAGTCTTCAGGTTCTCAGTCTCACGCTAGTTTTCGTTATGTTAGAAGCTTCCCATCATGTCACTGCCTCACTCTGTGACTAACCAGGCAGAAGCAGGGAATAGCCACTTCAATTTTCTTATCTTTCCAAAGGAAGGAATCAAATCTGACAAAGCCTCAAGGGGACATTCGAAGGACAAAGTTAGCCATTAATCTAAAATTCTCCTTTTACCTCAAAAAGGGTCAAATGCCTCCTCCCTCTGTAATTCTAAAAGTAGATCTCATCCCTCAAATGCAGGAAAGAGAGGGAGCAGGTCTGGAGAAAGGACACTAAGATTTCCATGAGATAAGTGTGATTGTTTTCAGTGACACAGAAACTATCCTCAGCTTTCCTTAGCTACTAATGGGCCAGTTCAAAAGTCAAAACCTGGACTGTCTGATGCCAACATTCACAGGTTTTTCTTTTGATTTGTGGCATCAGGAGTGTAAACGTAAATCACATGTTTCTTAGTTGTCTAACTTTGTATGTGTGACTTAAATTCATTTCTTCATCATAGAATGGAGACACTAATATTCATTTCATAGCCTAACATGTTCCACTTCTTACAGGAATGTGACAGGAGACGGCATGAGATGACACGTATGCAAGCATTTAGCAAAGGGTCTGACACATGAAAGTCAGCTCTCTTCCTGCCCTTTTCCCCTTCCCCTCTATGAATGATGACTGAAAGTGGGGGTCATCCTAACTCCCTGTCCTCACTGTACTTTAGAAGATCTAGTCTAGAGACTGGTTTCTGCATGTGCATTTGGCATTGTAAAGAGTTATTGGGGAGAAGGTGGGGTGGGAGGGTAGAAGGGTCGGCAGGGGTGCCCTGGCCTCTTGCCCTCCCCCTCCCTGCCCCTGCCTGATGCATGATTTGCCTTCATGGCTATAAGCACCATGTGCGCAGAAAGCACAGTTGCTGAGCTTGTACCCATGCCGGGGCATCTCCTGCCATAGTCGAATGGCTTCCTTTACCTCCACACATAAATCCTGTGCAGGATGCCTGGTCCCTTTGGACCCCATTGTGTTCCATAGTCAAAACCAAGAAGTTGGGCTCTTTAAGATCCTCTTCGGTCCTAAAGTCCAGGAGTTCCTGAAACACTGCTGAGCAATTCAAAGTTCAGGCAATCCTGAGTTTGAATCTCAGGTGTCAAAATTACTGCGTTAAGGTACTTTACCTTTCAGAATCTGAATTTTCTTATTTTAAAATGAGGATACTAATACCCTGAGAAGGTCTATGAAGGCTCAATGAGATAACGGTGCAGTGGGTCTGGCACTATGCCTGGCACATAGTGGGTCCTAGGCTTACTGTGGCTCACTGCCCCTAAACTGTGACAGCCATTTCACAGGGCGTGGTGCTCCCCGGGTTACCCTGACTGCAGCATTACGGCAAGCAGAAAGTGCAGGATGCAGTTTTATTTTTACCTCTTCTCAGAACCCTGTTGTATACATGTTCCCCTGAAGGGCACTTTCTTTCCATTATGCTGTGAGCTAAAGATGTTTAATTCTCTAGACCTCTCTATTCCAAGCTGCCTTTCTCCTAAGTCCTCTGGTCTTATTAAGACCACAATCCCCGTGATAAACCAGCCCAAGAATGAGCTGGAGGAGCACAAATGTTCCTGTTGAAAAGGAGCTTAGCAATCAACTCCTCTGGTCCTCTTTCTTA
TGATGTTTTGATCAATATGTGATGTTTTGATCAAAATATACATTGTGGATTGATTAATTCAAGCTAATTAACATATTCATTCCTTCACATACCATTTCTTTGTGGTGAGAATATTTAAAATCTACTCTTTTAGTAATTTGGAAATATACATTATTATTAACTATAGTCACCATGCTGTGGAATAGGTCACTAAAACTCATTCCTTCCATCTAACTGAAATTTTGTATTCTTTGACCAACCCCTTGGGAGACTAAAAATGTATACAGAAAGACTTCCCACTCAAGAACATGTTTGACTTTTCATTGGTTTCTCATGTTTTTTATTAAGATTTAATAGCTGGTTTATATAGGTTGCGTGTTCAGGTTTTAGTCCTACATTTTATAGTTTTGGTCATGTGAAATTTTTTTATGTCTATTTCTGGGTGCTTAGTGCTGGGGAAGATAAAAGTTATTGATTTTTATATATTTATCTTCTATCTAGCCAACTTACAAAGTTTTATTAATACAGTGCTTTTTTCCCTTGAATCTGTTGGGTTTTCTACATACACAATCATAGTATTAGCAAATATATAGTTTTACTTCTTAGTTTCCAGCATTTATAGCAGATGTATCTCTTACATTGTTCATTTACTAAAACCTTTAAAGTACTTCTTTTTAAAAAGGGAATGATGATAGCAGGCATTTCTTTCTAATTTCTGATTACAGTGAAATTTGTTAACTTTTTTCCACTTAGATATCAAAAGTTGTTGTTTTGATGTAAGCAATCTTTATTATCATTGAGGTGTTTTTTTTCTAAATTTTTCCCCTTAAACTCTTCCTAAAACTGGATGCTGAATTTTACCATGTACCTTTCTGTGACTGCTGATTTGATTGCCTAATTTTTTCCTTTAATTTGTGCATAGGATTATATGGGCAGATTTCCTATGTTGTGCCACCCCTGCTTCTCTGTGCATGTATTTCCTTGATAATCTTATAAATTCCTATAGAAATGTTTACCAAAATGTGTCAAAAGTTAATAGCTATAACTTAATAAAAGGGTTCCATGATCAAATTAATTTAAGAAGCACCAGACCAAAGTTAAATGGTCCTTCCCCAGACCTTTGAAGCTAATGTGCATCGTTAATCTTCAAGAGGAGGTTAAAGGCTGGGCATGGTGTCTCATGCCTGCAATCCCAGCACTTTGGGAAGCTGAGGTGGGTGGATAACTTGAGGTTAGGAGTGCGAAACCAGCCTGGACAACATGGTGAAACTCTGCCTCTACCAAAAATACATAAAATTAGCTGGGCGTAATGGTGTGCAACTGTGGTCCCAGCTACTCTGGAGGCTGAGGCACCAGAATCGCTTGAACCTAGGAGGAAGAGGTTGCAGTGAGCTGAGATCACACCACTGTTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAGGGTGATTAAAGTACAAAGTGTTTAGTGAAGTTTATTGGACTATATTTTTCACGGGCCATCCCATGGGACTAGATCAGAGCAGAATCAACTTTCGGAATGCATACTTGGATTGCATGCTAAGATTTACAAACATTTTCAGCACGAGACCAATTAAATCATGGAGATAAAAGTTAGAATCATAGGATGCCAAAACCATTTGTTTGAGGAAGAATAATTTAGTTAAGCAACACATTATACCAGTTTTACTTTTATTTATATGAGATTTTCTCCTTGGGTGGGCCCAAGTTATCAATATTTGGCACTATACAGACCAGTCTTAGAGCACAGGGTAATTCAGGGGCTGGATGTCATTCCAGCTCCTGCCACTGTTGACATATGACACTAGGAAATCACACAACTGTGCCTGTACCCACCTCTCTCTACAATGCAACCCATGGTGTCAAGACTGGAGCTTGCACATGGCACTCACCAATGACGTATTCCACCCTGAAGAGATCCCTTCTGGGGTCATATGGACGACTGAAGTCAATCTGCACATAGAAAGACTGCCCTCTGCGGACAATCAGCTTGTTGTTTTCATACTTGTCAGTGTGGTGGTCCACCTTTTTAGTGTCCCATCTCTCCTTGAACAGGTGAACGCTCGTGACATTAAGAAACTCTATGAACAAGAAAAACAAGGGTTGAAGAAAATAATCAACTAACTTTAGTTTAAACATAAACTCAAAAACAAGATTATTTTCCCTGAAGAAGGCAGGTAGCAAGGTCTGCTGAATGAAACTCTGTAGGAGGCAGGGGTAGGGGAACACAGTCTCGAGAGTCAGCCTCTTGTGACATTCTTGTTTTTGAAGAGAGCTTTTTAAAGCTTTTTCCACCTTTGATCTCGTTTCAGACCACAAGGCACTCACTGTGGGATAGATGGATGCCTGTCTGGGAGATCCAAATACAGAGAAGCTAGGGCCAGAGTTGAAGTCTTCAGGTTCTCAGTCTCACGCTAGTTTTCGTTATGTTAGAAGCTTCCCATCATGTCACTGCCTCACTCTGTGACTAACCAGGCAGAAGCAGGGAATAGCCACTTCAATTTTCTTATCTTTCCAAAGGAAGGAATCAAATCTGACAAAGCCTCAAGGGGACATTCGAAGGACAAAGTTAGCCATTAATCTAAAATTCTCCTTTTACCTCAAAAAGGGTCAAATGCCTCCTCCCTCTGTAATTCTAAAAGTAGATCTCATCCCTCAAATGCAGGAAAGAGAGGGAGCAGGTCTGGAGAAAGGACACTAAGATTTCCATGAGATAAGTGTGATTGTTTTCAGTGACACAGAAACTATCCTCAGCTTTCCTTAGCTACTAATGGGCCAGTTCAAAAGTCAAAACCTGGACTGTCTGATGCCAACATTCACAGGTTTTTCTTTTGATTTGTGGCATCAGGAGTGTAAACGTAAATCACATGTTTCTTAGTTGTCTAACTTTGTATGTGTGACTTAAATTCATTTCTTCATCATAGAATGGAGACACTAATATTCATTTCATAGCCTAACATGTTCCACTTCTTACAGGAATGTGACAGGAGACGGCATGAGATGACACGTATGCAAGCATTTAGCAAAGGGTCTGACACATGAAAGTCAGCTCTCTTCCTGCCCTTTTCCCCTTCCCCTCTATGAATGATGACTGAAAGTGGGGGTCATCCTAACTCCCTGTCCTCACTGTACTTTAGAAGATCTAGTCTAGAGACTGGTTTCTGCATGTGCATTTGGCATTGTAAAGAGTTATTGGGGAGAAGGTGGGGTGGGAGGGTAGAAGGGTCGGCAGGGGTGCCCTGGCCTCTTGCCCTCCCCCTCCCTGCCCCTGCCTGATGCATGATTTGCCTTCATGGCTATAAGCACCATGTGCGCAGAAAGCACAGTTGCTGAGCTTGTACCCATGCCGGGGCATCTCCTGCCATAGTCGAATGGCTTCCTTTACCTCCACACATAAATCCTGTGCAGGATGCCTGGTCCCTTTGGACCCCATTGTGTTCCATAGTCAAAACCAAGAAGTTGGGCTCTTTAAGATCCTCTTCGGTCCTAAAGTCCAGGAGTTCCTGAAACACTGCTGAGCAATTCAAAGTTCAGGCAATCCTGAGTTTGAATCTCAGGTGTCAAAATTACTGCGTTAAGGTACTTTACCTTTCAGAATCTGAATTTTCTTATTTTAAAATGAGGATACTAATACCCTGAGAAGGTCTATGAAGGCTCAATGAGATAACGGTGCAGTGGGTCTGGCACTATGCCTGGCACATAGTGGGTCCTAGGCTTACTGTGGCTCACTGCCCCTAAACTGTGACAGCCATTTCACAGGGCGTGGTGCTCCCCGGGTTACCCTGACTGCAGCATTACGGCAAGCAGAAAGTGCAGGATGCAGTTTTATTTTTACCTCTTCTCAGAACCCTGTTGTATACATGTTCCCCTGAAGGGCACTTTCTTTCCATTATGCTGTGAGCTAAAGATGTTTAATTCTCTAGACCTCTCTATTCCAAGCTGCCTTTCTCCTAAGTCCTCTGGTCTTATTAAGACCACAATCCCCGTGATAAACCAGCCCAAGAATGAGCTGGAGGAGCACAAATGTTCCTGTTGAAAAGGAGCTTAGCAATCAACTCCTCTGGTCCTCTTTCTTA
Task1_train_9988
This variant impacts the gene DSP (desmoplakin) on Chromosome 6. Is the change likely to result in a pathogenic outcome?
Pathogenic; Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
ACCTGAGCCCCTGACCAACTTTCTCCTTCATTTCTCTAAGACCTAGGGAATCCTAAATGATGTCTTTAAACTTTAAGACAATTTTCTAACACGTGAGTCTTTAAGTGACCCTGATCTGGGCTTTCCTTTGTGGAGACGGTGCTGCCAGGCCAGCAAGGGTTTGCTTTCCAACCGCCTAGGAAAAAGTCCCCATGGGTGAAATATCTCATAGAGCTAGTAATTCTTTCTTTCTATGGAGGGATCTGAGGCCAGTATCTGAAGAAAAGGAGGCTTAGAAGGGCCACTCTTTTCTATACAATCCACAAGGGGATTTATATCTACCTGCTTTTTGTTGTCTTCTAGCGCGAGAAATCTGCGATCTACCAGTTGGAGGAGGAGTATGAAAACCTGCTGGTAAGCTGATTTATTTCTCAAGTGCATCGACTTTCTGTTGTTTCCAATTCAATTCAGTTCAAGAAATATCAAGCACATCCTGGCGGGGAGGCACCTGTTCATCGATGCTAATGTTGTTGCTGCTGCTGAGTTTCCTTTAGAAGTGAATTTTAAAAGTTGTTTTCTTTTCTTTTTTTCTTTTAAGTAGAGACAGGGTTTCACCATGTTCACCATGTTAACCAGGGTGGTCTCAAACTCCTGACCTCAAGTGATCCGCCCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTAAAAGTTGTTTTCAGAAGTCAGTCCCTACTGCTGTTCTGTTTTCAAGTTGTGTCACATAAATGGCACTTGTTAAGTACTTGCAGTTGAAGCAAGAAAACGTTGCCACTTGTGAATTGTGGTCTTTTTTACGAAGTGTAAGCAAAAATAAAAGTTATTTTTCTCAAGATAGAGGTCTACCAGATCGTCATCACAATTTTATGACACTCAGTCATATCAGTTACTTGATTCATAAGAGGAGAGATTTCCATTCTTTTGCCTATTTGTGTCATCATATCTTTACTTTTTAATGTTTCCTTGTTGGCAATGATACTTTTTAAATAATGTCACTCGTGGTGACACAGTGATTTTCCTATTGGGCTGGGGTGTGACTTATGGCACTTTGAATTTTTGGGGAGAAGGTAGGAAAAGCTTGATTTCTCTAACAGTCCATTTTCCCCCTTATAGTCCAAAACTAATTATTGATGGGTACAAAAATACAGTTAGATAGAAGGAGTAAGTTCTAATATTTGATAGTACAATAGGGATATTATAGTTAATGATAATTTATTGTATATTTCAAAATAGCTTGAAGAAAATATTTGTAATGTTCCCAACACACAGAAAAGATAAATGTTCGAGGTGATGGATATCCCACTTATCCTGATTTGATCATTATACATTGTATACATGTGTCCAGATATCATGTGTACCCCCAAATATGTACAACTATATCAGTAAAAAATACCAAAAAAAGACCTTATTTAGAAGAATAAAAAAAATTTAAGGCCAGGTGTGGTGGCTCACGCCCATAATTCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGCCAACTGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGACGTGGTGGTGCATGTCTGTAATCCCACCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGGGGGAGGTTGCAGTGAACCGAGATCGCTCATGCCACTGCACTCCAGCCTGGGAGACGAGAGCGACAGTCCGTCTCAAAAAAAAAAAAGTTGCTGCCTTCTTGTTCATTGCAGATTTGGATGGGTCTTTTCCCATACCAGGTGGTCAGTGAATGCACAAGGTTAACATTTTTCCTATCCGTGTGATTTTTTTTTTAAAGGGACCACAGGTTTAATCTTTAAACCTGCAGAGAACACCAGTCACTGCATATTGTTATTTTAATGCTGCCTTTGAACCTCCTGTGCAGAAAGCGTCCTTTGAGAGGATGGATCACCTGCGACAGCTGCAGAACATCATTCAGGCCACGTCCAGGGAGATCATGTGGATCAATGACTGCGAGGAGGAGGAGCTGCTGTACGACTGGAGCGACAAGAACACCAACATCGCTCAGAAACAGGAGGCCTTCTCCGTAAGTTCACCCCACGCGGCTGTAGATGCTTGTCTTGAGCCTGTTGCCTTGAAGAGCTGGGGTCTCGGGGAATGATTGGTCTATTAATAATTTAATCAGCCACTTGCAATTCAGCCTTCTTTGAAATGGTCGTGAAAAATCCTTCCTTCCTGAAAACTTCTCCGTGTGGAGGCCATTATCCTTAGCAAACTTATGCGGGAACAGAAAACCAAATACCACATGTTCTCACTTAGGAGTGGGAACTAAATGATGAGAATACATGGATACATCGAGGGCAACAACACACACTGGGGCCTTTCGGAGGGCAGAGGGTGGAGGTGGAAGGAGGGAGAGGATCAGGCAAGATAACTAATGGGTACTAGGCTTAATCGTGGGTGATGAAATAACCTGTACAACAAATCCCTGTGATACAAGTTTACCTGTGTAACAAACCTGCACATGTATCCCTGAACTTAAAATAAAAGTTAAAAAGAAAAAGAGGGGCAATACCTTGTTTAATATCCCAGAAGACCGTAGTTTGTTTAGAGAGGATAAGAACTGGTACGTTCAGATAACCCAGGATGTGTGTGGCACTGCAGGAGGGTGGGTGGAAGCCTGGGATTAGAAAACCTCAGGATGGATGTAGCTCTTCTTTCCTCCTGTGTCATCTTGAGTAAGCCTCTGCCACATCCTCTCCTGTAGCAAACATCCTTTTCAGCCTTAAAAATGCTGTGATTCTTGAGGAAAACAGCGTGATTCTTTGGCATTGTTCATTTCCAAAATGCAGTTTTGTATTTCACTTTTAAAAAGTACTGTGGGGGTGATGGAAGTTTAATGATGACTTGCTGCAAAGGATTTCTTATTTCTTCATTCACAGATACGCATGAGTCAACTGGAAGTTAAAGAAAAAGAGCTCAATAAGCTGAAACAAGAAAGTGACCAACTTGTCCTCAATCAGCATCCAGCTTCAGACAAAATTGAGGTAGGCTTCATGAGGTTTATATTTTTGTTAGAAAAAAAAAAACTTTTCATAAAGTAAGACTAACCAAATGAGTAATTCTTATATGACTTAAAGCCGTGCCAACTTTATTTTCTATTTTGGGATCAATACCCTACACCAGGGGTTGGCAAACTCTTTTCAGGAAAGGACCAGACAATCAGTATTTTAGACTTTCAGGCCATTTGGTCTCTGTTACAATTACTTAACCCTGCTATTATAGTGCAGAAGGAGGCATAGACACTGTGTAAATGAATGAGTGTGCCTGTATTCCAATAAAACTTTATTTACAAATAGAAGTGGGCCACATGTGGCCCTTGAGCTATAGTTTGGTGACCGCTGCCCTAGACTGCCATCTTTGGGCCACGCTCAAGGCTGACATTAGCTGGTACCACTGGTATGGCCATACTGCTTGTTAAAAAACACAGAAAGTTCCATATCAGTTGGTAAGAATCACTGTCTTGAGCCCCCTAAGCCCTTTGCTTGGATGCCTCGAACCTCCCCATGATTCAGCAATCCTCCAGGAACAGGGCTCGGTGTGGCAAAGGGATGCCACTCCAGTGCTAGCCCCAGTGACAGTTCTGATTGGTCAGTATCTCTGCTATTTGGGTGATACATATTTTGACTAAGACTCCTCATGGTGTCTATTTGTGAAAGCTGATTTTAAAATTTAGTTTTGACCATACCAAGAGATATATGGTGAGAAATTCTCTTTCCAACTTTTAGAAAAATATCTGCTTGACTTAGAATGAGATAAAAACTGCTTACTAGCTTTCATGCAGGCTCACCTATCTCTTGGTGTTCATGCATCTGTACAACTGAGCTAGGCTAAGACAGCTGACATTTTCTTGTTTCAGGCCTATATGGACACTCTGCAGACGCAGTGGAGTTGGATTCTTCAGATCACCAAGTGCATTGATGTTCATCTGAAAGAAAATGCTGCCTACTTTCAGGTTTTTATATTTAGTGATAATTTTGTTGTTATTTAGGTCT
ACCTGAGCCCCTGACCAACTTTCTCCTTCATTTCTCTAAGACCTAGGGAATCCTAAATGATGTCTTTAAACTTTAAGACAATTTTCTAACACGTGAGTCTTTAAGTGACCCTGATCTGGGCTTTCCTTTGTGGAGACGGTGCTGCCAGGCCAGCAAGGGTTTGCTTTCCAACCGCCTAGGAAAAAGTCCCCATGGGTGAAATATCTCATAGAGCTAGTAATTCTTTCTTTCTATGGAGGGATCTGAGGCCAGTATCTGAAGAAAAGGAGGCTTAGAAGGGCCACTCTTTTCTATACAATCCACAAGGGGATTTATATCTACCTGCTTTTTGTTGTCTTCTAGCGCGAGAAATCTGCGATCTACCAGTTGGAGGAGGAGTATGAAAACCTGCTGGTAAGCTGATTTATTTCTCAAGTGCATCGACTTTCTGTTGTTTCCAATTCAATTCAGTTCAAGAAATATCAAGCACATCCTGGCGGGGAGGCACCTGTTCATCGATGCTAATGTTGTTGCTGCTGCTGAGTTTCCTTTAGAAGTGAATTTTAAAAGTTGTTTTCTTTTCTTTTTTTCTTTTAAGTAGAGACAGGGTTTCACCATGTTCACCATGTTAACCAGGGTGGTCTCAAACTCCTGACCTCAAGTGATCCGCCCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTAAAAGTTGTTTTCAGAAGTCAGTCCCTACTGCTGTTCTGTTTTCAAGTTGTGTCACATAAATGGCACTTGTTAAGTACTTGCAGTTGAAGCAAGAAAACGTTGCCACTTGTGAATTGTGGTCTTTTTTACGAAGTGTAAGCAAAAATAAAAGTTATTTTTCTCAAGATAGAGGTCTACCAGATCGTCATCACAATTTTATGACACTCAGTCATATCAGTTACTTGATTCATAAGAGGAGAGATTTCCATTCTTTTGCCTATTTGTGTCATCATATCTTTACTTTTTAATGTTTCCTTGTTGGCAATGATACTTTTTAAATAATGTCACTCGTGGTGACACAGTGATTTTCCTATTGGGCTGGGGTGTGACTTATGGCACTTTGAATTTTTGGGGAGAAGGTAGGAAAAGCTTGATTTCTCTAACAGTCCATTTTCCCCCTTATAGTCCAAAACTAATTATTGATGGGTACAAAAATACAGTTAGATAGAAGGAGTAAGTTCTAATATTTGATAGTACAATAGGGATATTATAGTTAATGATAATTTATTGTATATTTCAAAATAGCTTGAAGAAAATATTTGTAATGTTCCCAACACACAGAAAAGATAAATGTTCGAGGTGATGGATATCCCACTTATCCTGATTTGATCATTATACATTGTATACATGTGTCCAGATATCATGTGTACCCCCAAATATGTACAACTATATCAGTAAAAAATACCAAAAAAAGACCTTATTTAGAAGAATAAAAAAAATTTAAGGCCAGGTGTGGTGGCTCACGCCCATAATTCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGCCAACTGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGACGTGGTGGTGCATGTCTGTAATCCCACCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGGGGGAGGTTGCAGTGAACCGAGATCGCTCATGCCACTGCACTCCAGCCTGGGAGACGAGAGCGACAGTCCGTCTCAAAAAAAAAAAAGTTGCTGCCTTCTTGTTCATTGCAGATTTGGATGGGTCTTTTCCCATACCAGGTGGTCAGTGAATGCACAAGGTTAACATTTTTCCTATCCGTGTGATTTTTTTTTTAAAGGGACCACAGGTTTAATCTTTAAACCTGCAGAGAACACCAGTCACTGCATATTGTTATTTTAATGCTGCCTTTGAACCTCCTGTGCAGAAAGCGTCCTTTGAGAGGATGGATCACCTGCGACAGCTGCAGAACATCATTCAGGCCACGTCCAGGGAGATCATGTGGATCAAGGACTGCGAGGAGGAGGAGCTGCTGTACGACTGGAGCGACAAGAACACCAACATCGCTCAGAAACAGGAGGCCTTCTCCGTAAGTTCACCCCACGCGGCTGTAGATGCTTGTCTTGAGCCTGTTGCCTTGAAGAGCTGGGGTCTCGGGGAATGATTGGTCTATTAATAATTTAATCAGCCACTTGCAATTCAGCCTTCTTTGAAATGGTCGTGAAAAATCCTTCCTTCCTGAAAACTTCTCCGTGTGGAGGCCATTATCCTTAGCAAACTTATGCGGGAACAGAAAACCAAATACCACATGTTCTCACTTAGGAGTGGGAACTAAATGATGAGAATACATGGATACATCGAGGGCAACAACACACACTGGGGCCTTTCGGAGGGCAGAGGGTGGAGGTGGAAGGAGGGAGAGGATCAGGCAAGATAACTAATGGGTACTAGGCTTAATCGTGGGTGATGAAATAACCTGTACAACAAATCCCTGTGATACAAGTTTACCTGTGTAACAAACCTGCACATGTATCCCTGAACTTAAAATAAAAGTTAAAAAGAAAAAGAGGGGCAATACCTTGTTTAATATCCCAGAAGACCGTAGTTTGTTTAGAGAGGATAAGAACTGGTACGTTCAGATAACCCAGGATGTGTGTGGCACTGCAGGAGGGTGGGTGGAAGCCTGGGATTAGAAAACCTCAGGATGGATGTAGCTCTTCTTTCCTCCTGTGTCATCTTGAGTAAGCCTCTGCCACATCCTCTCCTGTAGCAAACATCCTTTTCAGCCTTAAAAATGCTGTGATTCTTGAGGAAAACAGCGTGATTCTTTGGCATTGTTCATTTCCAAAATGCAGTTTTGTATTTCACTTTTAAAAAGTACTGTGGGGGTGATGGAAGTTTAATGATGACTTGCTGCAAAGGATTTCTTATTTCTTCATTCACAGATACGCATGAGTCAACTGGAAGTTAAAGAAAAAGAGCTCAATAAGCTGAAACAAGAAAGTGACCAACTTGTCCTCAATCAGCATCCAGCTTCAGACAAAATTGAGGTAGGCTTCATGAGGTTTATATTTTTGTTAGAAAAAAAAAAACTTTTCATAAAGTAAGACTAACCAAATGAGTAATTCTTATATGACTTAAAGCCGTGCCAACTTTATTTTCTATTTTGGGATCAATACCCTACACCAGGGGTTGGCAAACTCTTTTCAGGAAAGGACCAGACAATCAGTATTTTAGACTTTCAGGCCATTTGGTCTCTGTTACAATTACTTAACCCTGCTATTATAGTGCAGAAGGAGGCATAGACACTGTGTAAATGAATGAGTGTGCCTGTATTCCAATAAAACTTTATTTACAAATAGAAGTGGGCCACATGTGGCCCTTGAGCTATAGTTTGGTGACCGCTGCCCTAGACTGCCATCTTTGGGCCACGCTCAAGGCTGACATTAGCTGGTACCACTGGTATGGCCATACTGCTTGTTAAAAAACACAGAAAGTTCCATATCAGTTGGTAAGAATCACTGTCTTGAGCCCCCTAAGCCCTTTGCTTGGATGCCTCGAACCTCCCCATGATTCAGCAATCCTCCAGGAACAGGGCTCGGTGTGGCAAAGGGATGCCACTCCAGTGCTAGCCCCAGTGACAGTTCTGATTGGTCAGTATCTCTGCTATTTGGGTGATACATATTTTGACTAAGACTCCTCATGGTGTCTATTTGTGAAAGCTGATTTTAAAATTTAGTTTTGACCATACCAAGAGATATATGGTGAGAAATTCTCTTTCCAACTTTTAGAAAAATATCTGCTTGACTTAGAATGAGATAAAAACTGCTTACTAGCTTTCATGCAGGCTCACCTATCTCTTGGTGTTCATGCATCTGTACAACTGAGCTAGGCTAAGACAGCTGACATTTTCTTGTTTCAGGCCTATATGGACACTCTGCAGACGCAGTGGAGTTGGATTCTTCAGATCACCAAGTGCATTGATGTTCATCTGAAAGAAAATGCTGCCTACTTTCAGGTTTTTATATTTAGTGATAATTTTGTTGTTATTTAGGTCT
Task1_train_9989
The following genetic variant occurs in DSP (desmoplakin) on Chromosome 6. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Arrhythmogenic right ventricular dysplasia 8
TAAGACCTAGGGAATCCTAAATGATGTCTTTAAACTTTAAGACAATTTTCTAACACGTGAGTCTTTAAGTGACCCTGATCTGGGCTTTCCTTTGTGGAGACGGTGCTGCCAGGCCAGCAAGGGTTTGCTTTCCAACCGCCTAGGAAAAAGTCCCCATGGGTGAAATATCTCATAGAGCTAGTAATTCTTTCTTTCTATGGAGGGATCTGAGGCCAGTATCTGAAGAAAAGGAGGCTTAGAAGGGCCACTCTTTTCTATACAATCCACAAGGGGATTTATATCTACCTGCTTTTTGTTGTCTTCTAGCGCGAGAAATCTGCGATCTACCAGTTGGAGGAGGAGTATGAAAACCTGCTGGTAAGCTGATTTATTTCTCAAGTGCATCGACTTTCTGTTGTTTCCAATTCAATTCAGTTCAAGAAATATCAAGCACATCCTGGCGGGGAGGCACCTGTTCATCGATGCTAATGTTGTTGCTGCTGCTGAGTTTCCTTTAGAAGTGAATTTTAAAAGTTGTTTTCTTTTCTTTTTTTCTTTTAAGTAGAGACAGGGTTTCACCATGTTCACCATGTTAACCAGGGTGGTCTCAAACTCCTGACCTCAAGTGATCCGCCCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTAAAAGTTGTTTTCAGAAGTCAGTCCCTACTGCTGTTCTGTTTTCAAGTTGTGTCACATAAATGGCACTTGTTAAGTACTTGCAGTTGAAGCAAGAAAACGTTGCCACTTGTGAATTGTGGTCTTTTTTACGAAGTGTAAGCAAAAATAAAAGTTATTTTTCTCAAGATAGAGGTCTACCAGATCGTCATCACAATTTTATGACACTCAGTCATATCAGTTACTTGATTCATAAGAGGAGAGATTTCCATTCTTTTGCCTATTTGTGTCATCATATCTTTACTTTTTAATGTTTCCTTGTTGGCAATGATACTTTTTAAATAATGTCACTCGTGGTGACACAGTGATTTTCCTATTGGGCTGGGGTGTGACTTATGGCACTTTGAATTTTTGGGGAGAAGGTAGGAAAAGCTTGATTTCTCTAACAGTCCATTTTCCCCCTTATAGTCCAAAACTAATTATTGATGGGTACAAAAATACAGTTAGATAGAAGGAGTAAGTTCTAATATTTGATAGTACAATAGGGATATTATAGTTAATGATAATTTATTGTATATTTCAAAATAGCTTGAAGAAAATATTTGTAATGTTCCCAACACACAGAAAAGATAAATGTTCGAGGTGATGGATATCCCACTTATCCTGATTTGATCATTATACATTGTATACATGTGTCCAGATATCATGTGTACCCCCAAATATGTACAACTATATCAGTAAAAAATACCAAAAAAAGACCTTATTTAGAAGAATAAAAAAAATTTAAGGCCAGGTGTGGTGGCTCACGCCCATAATTCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGCCAACTGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGACGTGGTGGTGCATGTCTGTAATCCCACCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGGGGGAGGTTGCAGTGAACCGAGATCGCTCATGCCACTGCACTCCAGCCTGGGAGACGAGAGCGACAGTCCGTCTCAAAAAAAAAAAAGTTGCTGCCTTCTTGTTCATTGCAGATTTGGATGGGTCTTTTCCCATACCAGGTGGTCAGTGAATGCACAAGGTTAACATTTTTCCTATCCGTGTGATTTTTTTTTTAAAGGGACCACAGGTTTAATCTTTAAACCTGCAGAGAACACCAGTCACTGCATATTGTTATTTTAATGCTGCCTTTGAACCTCCTGTGCAGAAAGCGTCCTTTGAGAGGATGGATCACCTGCGACAGCTGCAGAACATCATTCAGGCCACGTCCAGGGAGATCATGTGGATCAATGACTGCGAGGAGGAGGAGCTGCTGTACGACTGGAGCGACAAGAACACCAACATCGCTCAGAAACAGGAGGCCTTCTCCGTAAGTTCACCCCACGCGGCTGTAGATGCTTGTCTTGAGCCTGTTGCCTTGAAGAGCTGGGGTCTCGGGGAATGATTGGTCTATTAATAATTTAATCAGCCACTTGCAATTCAGCCTTCTTTGAAATGGTCGTGAAAAATCCTTCCTTCCTGAAAACTTCTCCGTGTGGAGGCCATTATCCTTAGCAAACTTATGCGGGAACAGAAAACCAAATACCACATGTTCTCACTTAGGAGTGGGAACTAAATGATGAGAATACATGGATACATCGAGGGCAACAACACACACTGGGGCCTTTCGGAGGGCAGAGGGTGGAGGTGGAAGGAGGGAGAGGATCAGGCAAGATAACTAATGGGTACTAGGCTTAATCGTGGGTGATGAAATAACCTGTACAACAAATCCCTGTGATACAAGTTTACCTGTGTAACAAACCTGCACATGTATCCCTGAACTTAAAATAAAAGTTAAAAAGAAAAAGAGGGGCAATACCTTGTTTAATATCCCAGAAGACCGTAGTTTGTTTAGAGAGGATAAGAACTGGTACGTTCAGATAACCCAGGATGTGTGTGGCACTGCAGGAGGGTGGGTGGAAGCCTGGGATTAGAAAACCTCAGGATGGATGTAGCTCTTCTTTCCTCCTGTGTCATCTTGAGTAAGCCTCTGCCACATCCTCTCCTGTAGCAAACATCCTTTTCAGCCTTAAAAATGCTGTGATTCTTGAGGAAAACAGCGTGATTCTTTGGCATTGTTCATTTCCAAAATGCAGTTTTGTATTTCACTTTTAAAAAGTACTGTGGGGGTGATGGAAGTTTAATGATGACTTGCTGCAAAGGATTTCTTATTTCTTCATTCACAGATACGCATGAGTCAACTGGAAGTTAAAGAAAAAGAGCTCAATAAGCTGAAACAAGAAAGTGACCAACTTGTCCTCAATCAGCATCCAGCTTCAGACAAAATTGAGGTAGGCTTCATGAGGTTTATATTTTTGTTAGAAAAAAAAAAACTTTTCATAAAGTAAGACTAACCAAATGAGTAATTCTTATATGACTTAAAGCCGTGCCAACTTTATTTTCTATTTTGGGATCAATACCCTACACCAGGGGTTGGCAAACTCTTTTCAGGAAAGGACCAGACAATCAGTATTTTAGACTTTCAGGCCATTTGGTCTCTGTTACAATTACTTAACCCTGCTATTATAGTGCAGAAGGAGGCATAGACACTGTGTAAATGAATGAGTGTGCCTGTATTCCAATAAAACTTTATTTACAAATAGAAGTGGGCCACATGTGGCCCTTGAGCTATAGTTTGGTGACCGCTGCCCTAGACTGCCATCTTTGGGCCACGCTCAAGGCTGACATTAGCTGGTACCACTGGTATGGCCATACTGCTTGTTAAAAAACACAGAAAGTTCCATATCAGTTGGTAAGAATCACTGTCTTGAGCCCCCTAAGCCCTTTGCTTGGATGCCTCGAACCTCCCCATGATTCAGCAATCCTCCAGGAACAGGGCTCGGTGTGGCAAAGGGATGCCACTCCAGTGCTAGCCCCAGTGACAGTTCTGATTGGTCAGTATCTCTGCTATTTGGGTGATACATATTTTGACTAAGACTCCTCATGGTGTCTATTTGTGAAAGCTGATTTTAAAATTTAGTTTTGACCATACCAAGAGATATATGGTGAGAAATTCTCTTTCCAACTTTTAGAAAAATATCTGCTTGACTTAGAATGAGATAAAAACTGCTTACTAGCTTTCATGCAGGCTCACCTATCTCTTGGTGTTCATGCATCTGTACAACTGAGCTAGGCTAAGACAGCTGACATTTTCTTGTTTCAGGCCTATATGGACACTCTGCAGACGCAGTGGAGTTGGATTCTTCAGATCACCAAGTGCATTGATGTTCATCTGAAAGAAAATGCTGCCTACTTTCAGGTTTTTATATTTAGTGATAATTTTGTTGTTATTTAGGTCTTAATACCTAATCTTTTGAGTGTGTTTTATAAAGCAC
TAAGACCTAGGGAATCCTAAATGATGTCTTTAAACTTTAAGACAATTTTCTAACACGTGAGTCTTTAAGTGACCCTGATCTGGGCTTTCCTTTGTGGAGACGGTGCTGCCAGGCCAGCAAGGGTTTGCTTTCCAACCGCCTAGGAAAAAGTCCCCATGGGTGAAATATCTCATAGAGCTAGTAATTCTTTCTTTCTATGGAGGGATCTGAGGCCAGTATCTGAAGAAAAGGAGGCTTAGAAGGGCCACTCTTTTCTATACAATCCACAAGGGGATTTATATCTACCTGCTTTTTGTTGTCTTCTAGCGCGAGAAATCTGCGATCTACCAGTTGGAGGAGGAGTATGAAAACCTGCTGGTAAGCTGATTTATTTCTCAAGTGCATCGACTTTCTGTTGTTTCCAATTCAATTCAGTTCAAGAAATATCAAGCACATCCTGGCGGGGAGGCACCTGTTCATCGATGCTAATGTTGTTGCTGCTGCTGAGTTTCCTTTAGAAGTGAATTTTAAAAGTTGTTTTCTTTTCTTTTTTTCTTTTAAGTAGAGACAGGGTTTCACCATGTTCACCATGTTAACCAGGGTGGTCTCAAACTCCTGACCTCAAGTGATCCGCCCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTAAAAGTTGTTTTCAGAAGTCAGTCCCTACTGCTGTTCTGTTTTCAAGTTGTGTCACATAAATGGCACTTGTTAAGTACTTGCAGTTGAAGCAAGAAAACGTTGCCACTTGTGAATTGTGGTCTTTTTTACGAAGTGTAAGCAAAAATAAAAGTTATTTTTCTCAAGATAGAGGTCTACCAGATCGTCATCACAATTTTATGACACTCAGTCATATCAGTTACTTGATTCATAAGAGGAGAGATTTCCATTCTTTTGCCTATTTGTGTCATCATATCTTTACTTTTTAATGTTTCCTTGTTGGCAATGATACTTTTTAAATAATGTCACTCGTGGTGACACAGTGATTTTCCTATTGGGCTGGGGTGTGACTTATGGCACTTTGAATTTTTGGGGAGAAGGTAGGAAAAGCTTGATTTCTCTAACAGTCCATTTTCCCCCTTATAGTCCAAAACTAATTATTGATGGGTACAAAAATACAGTTAGATAGAAGGAGTAAGTTCTAATATTTGATAGTACAATAGGGATATTATAGTTAATGATAATTTATTGTATATTTCAAAATAGCTTGAAGAAAATATTTGTAATGTTCCCAACACACAGAAAAGATAAATGTTCGAGGTGATGGATATCCCACTTATCCTGATTTGATCATTATACATTGTATACATGTGTCCAGATATCATGTGTACCCCCAAATATGTACAACTATATCAGTAAAAAATACCAAAAAAAGACCTTATTTAGAAGAATAAAAAAAATTTAAGGCCAGGTGTGGTGGCTCACGCCCATAATTCCAGCACTTTGGGGGGCCGAGGTGGGCGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGGCCAACTGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGACGTGGTGGTGCATGTCTGTAATCCCACCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGGGGGAGGTTGCAGTGAACCGAGATCGCTCATGCCACTGCACTCCAGCCTGGGAGACGAGAGCGACAGTCCGTCTCAAAAAAAAAAAAGTTGCTGCCTTCTTGTTCATTGCAGATTTGGATGGGTCTTTTCCCATACCAGGTGGTCAGTGAATGCACAAGGTTAACATTTTTCCTATCCGTGTGATTTTTTTTTTAAAGGGACCACAGGTTTAATCTTTAAACCTGCAGAGAACACCAGTCACTGCATATTGTTATTTTAATGCTGCCTTTGAACCTCCTGTGCAGAAAGCGTCCTTTGAGAGGATGGATCACCTGCGACAGCTGCAGAACATCATTCAGGCCACGTCCAGGGAGATCATGTGGATCAATGACTGCGAGGAGGAGGAGCTGCTGTACGACTGGAGGGACAAGAACACCAACATCGCTCAGAAACAGGAGGCCTTCTCCGTAAGTTCACCCCACGCGGCTGTAGATGCTTGTCTTGAGCCTGTTGCCTTGAAGAGCTGGGGTCTCGGGGAATGATTGGTCTATTAATAATTTAATCAGCCACTTGCAATTCAGCCTTCTTTGAAATGGTCGTGAAAAATCCTTCCTTCCTGAAAACTTCTCCGTGTGGAGGCCATTATCCTTAGCAAACTTATGCGGGAACAGAAAACCAAATACCACATGTTCTCACTTAGGAGTGGGAACTAAATGATGAGAATACATGGATACATCGAGGGCAACAACACACACTGGGGCCTTTCGGAGGGCAGAGGGTGGAGGTGGAAGGAGGGAGAGGATCAGGCAAGATAACTAATGGGTACTAGGCTTAATCGTGGGTGATGAAATAACCTGTACAACAAATCCCTGTGATACAAGTTTACCTGTGTAACAAACCTGCACATGTATCCCTGAACTTAAAATAAAAGTTAAAAAGAAAAAGAGGGGCAATACCTTGTTTAATATCCCAGAAGACCGTAGTTTGTTTAGAGAGGATAAGAACTGGTACGTTCAGATAACCCAGGATGTGTGTGGCACTGCAGGAGGGTGGGTGGAAGCCTGGGATTAGAAAACCTCAGGATGGATGTAGCTCTTCTTTCCTCCTGTGTCATCTTGAGTAAGCCTCTGCCACATCCTCTCCTGTAGCAAACATCCTTTTCAGCCTTAAAAATGCTGTGATTCTTGAGGAAAACAGCGTGATTCTTTGGCATTGTTCATTTCCAAAATGCAGTTTTGTATTTCACTTTTAAAAAGTACTGTGGGGGTGATGGAAGTTTAATGATGACTTGCTGCAAAGGATTTCTTATTTCTTCATTCACAGATACGCATGAGTCAACTGGAAGTTAAAGAAAAAGAGCTCAATAAGCTGAAACAAGAAAGTGACCAACTTGTCCTCAATCAGCATCCAGCTTCAGACAAAATTGAGGTAGGCTTCATGAGGTTTATATTTTTGTTAGAAAAAAAAAAACTTTTCATAAAGTAAGACTAACCAAATGAGTAATTCTTATATGACTTAAAGCCGTGCCAACTTTATTTTCTATTTTGGGATCAATACCCTACACCAGGGGTTGGCAAACTCTTTTCAGGAAAGGACCAGACAATCAGTATTTTAGACTTTCAGGCCATTTGGTCTCTGTTACAATTACTTAACCCTGCTATTATAGTGCAGAAGGAGGCATAGACACTGTGTAAATGAATGAGTGTGCCTGTATTCCAATAAAACTTTATTTACAAATAGAAGTGGGCCACATGTGGCCCTTGAGCTATAGTTTGGTGACCGCTGCCCTAGACTGCCATCTTTGGGCCACGCTCAAGGCTGACATTAGCTGGTACCACTGGTATGGCCATACTGCTTGTTAAAAAACACAGAAAGTTCCATATCAGTTGGTAAGAATCACTGTCTTGAGCCCCCTAAGCCCTTTGCTTGGATGCCTCGAACCTCCCCATGATTCAGCAATCCTCCAGGAACAGGGCTCGGTGTGGCAAAGGGATGCCACTCCAGTGCTAGCCCCAGTGACAGTTCTGATTGGTCAGTATCTCTGCTATTTGGGTGATACATATTTTGACTAAGACTCCTCATGGTGTCTATTTGTGAAAGCTGATTTTAAAATTTAGTTTTGACCATACCAAGAGATATATGGTGAGAAATTCTCTTTCCAACTTTTAGAAAAATATCTGCTTGACTTAGAATGAGATAAAAACTGCTTACTAGCTTTCATGCAGGCTCACCTATCTCTTGGTGTTCATGCATCTGTACAACTGAGCTAGGCTAAGACAGCTGACATTTTCTTGTTTCAGGCCTATATGGACACTCTGCAGACGCAGTGGAGTTGGATTCTTCAGATCACCAAGTGCATTGATGTTCATCTGAAAGAAAATGCTGCCTACTTTCAGGTTTTTATATTTAGTGATAATTTTGTTGTTATTTAGGTCTTAATACCTAATCTTTTGAGTGTGTTTTATAAAGCAC
Task1_train_9990
A mutation on Chromosome 6 affecting DSP (desmoplakin) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Cardiovascular phenotype
AAAATTGAGGTAGGCTTCATGAGGTTTATATTTTTGTTAGAAAAAAAAAAACTTTTCATAAAGTAAGACTAACCAAATGAGTAATTCTTATATGACTTAAAGCCGTGCCAACTTTATTTTCTATTTTGGGATCAATACCCTACACCAGGGGTTGGCAAACTCTTTTCAGGAAAGGACCAGACAATCAGTATTTTAGACTTTCAGGCCATTTGGTCTCTGTTACAATTACTTAACCCTGCTATTATAGTGCAGAAGGAGGCATAGACACTGTGTAAATGAATGAGTGTGCCTGTATTCCAATAAAACTTTATTTACAAATAGAAGTGGGCCACATGTGGCCCTTGAGCTATAGTTTGGTGACCGCTGCCCTAGACTGCCATCTTTGGGCCACGCTCAAGGCTGACATTAGCTGGTACCACTGGTATGGCCATACTGCTTGTTAAAAAACACAGAAAGTTCCATATCAGTTGGTAAGAATCACTGTCTTGAGCCCCCTAAGCCCTTTGCTTGGATGCCTCGAACCTCCCCATGATTCAGCAATCCTCCAGGAACAGGGCTCGGTGTGGCAAAGGGATGCCACTCCAGTGCTAGCCCCAGTGACAGTTCTGATTGGTCAGTATCTCTGCTATTTGGGTGATACATATTTTGACTAAGACTCCTCATGGTGTCTATTTGTGAAAGCTGATTTTAAAATTTAGTTTTGACCATACCAAGAGATATATGGTGAGAAATTCTCTTTCCAACTTTTAGAAAAATATCTGCTTGACTTAGAATGAGATAAAAACTGCTTACTAGCTTTCATGCAGGCTCACCTATCTCTTGGTGTTCATGCATCTGTACAACTGAGCTAGGCTAAGACAGCTGACATTTTCTTGTTTCAGGCCTATATGGACACTCTGCAGACGCAGTGGAGTTGGATTCTTCAGATCACCAAGTGCATTGATGTTCATCTGAAAGAAAATGCTGCCTACTTTCAGGTTTTTATATTTAGTGATAATTTTGTTGTTATTTAGGTCTTAATACCTAATCTTTTGAGTGTGTTTTATAAAGCACTGAAAATAATCTTCAAAATGTTGCATAAATCCTCTTCATTGATTTTGAGTGCAGAGTAGCATAGATTTGCAACCTTGCCATCAGTCCTACAAATAGTTTCCCGCTGCCACATACCTAAATACTTTCTGCACGAATTTTTTCCTTTAGCCACCTGTCAAAGAGATGTTTAGGGATGACAATCCTTGAAACAGAACTACTAGATGAAATTGCTCATTGAGTTGCTGTTCATTCACTGATCACTCTCATCCTTCACAGTTTTTTGAAGAGGCGCAGTCTACTGAAGCATACCTGAAGGGGCTCCAGGACTCCATCAGGAAGAAGTACCCCTGCGACAAGAACATGCCCCTGCAGCACCTGCTGGAACAGATCAAGGAGCTGGAGGTATCGTCTCAGACCCAGAACCTCAGCAGCTGTGCCTGATCAGGGAGATAAAACACATGCCTTGGATGCAGTTGGCTCTGATTAGTATTATTGTACAATGCACGCCCAGAGCCAAGCAAGCATTTTCTTCAGCTTCCAGTGGCTTTTCTCAAAATTAACTTCTTTACATGCCCAACTACTCTTGACAGTTACTTTTGCTTCAGTCTGGGCAATTGGTTGAAAATAAGAACAGAGAGAACATTACTTCACATGACAATTCCTTTGGGAACGCATACTTCAAATTTTATCAGCATAGCCCTTTCACACAAGGATGTTCTTCCCTGCCCACTTAATTCCTGCCTGCATAGCTTCTGGAGAGTGTTGTCATGAAAGGTTCTCATGTTTCCTGCCGACGAATTTGTGATTTTTTACAATTGATGCAACTGCAGTGATACTCAGTGTGTCATGTAGCTACATTAATGCAGGTTGAAAATCTCCTCTAAAACTCACAGGGTATCTATGTTTAAGTATGATTTTATTCACCATTGCAGAAAGAACGAGAGAAAATCCTTGAATACAAGCGTCAGGTGCAGAACTTGGTAAACAAGTCTAAGAAGATTGTACAGCTGAAGCCTCGTAACCCAGACTACAGAAGCAATAAACCCATTATTCTCAGAGCTCTCTGTGACTACAAACAAGATCAGGTGTGTACTCATTTAGAATGATACAAAAGTTTTCCCTGTCTTTACACACAAATTTTTGTCCATCAAGAAAGCAACATTTAATCTAGAGTTCAATAATCACCACAGTCAATGTCTTTGATCTATGAAATCAGCAGCTATGGAACAAAAGCAGCAGCTCTGTTCTGAATCATATGGTAGTTGTCAATAACAAGGACAGTAGTTATTTTTAGAACTTTTAAAAATTCGCAAGGCTTAATACTTTTCTTCTAGTATGTCAAAGTTGTCTGTGATCACTCTCATCTTTAAATTTCTGATAAAAGAAATGAGAAATGATGCTTTTATGTTGCATATAAAGTGAATGTCTCTCACTATGGGTGACACAGTGAGACCAAATAAATAAATAAAATGTAGCTCACTTCATGTATACCTTTTAGGCTCACATGTATTATTTAAAGCATCGGTATTGTTGGGTTGTATGATGATCAGCTTCATTTGAGGGGAAAAACGTAAAAGCTTTAATAATTCGCATGTGTTCATCTCTGTTTCCATCATTGAGAAAAAAAATAAAAACACATACTTATGAATAAAGCCAAACCCTGGGGTTGCTTGCCTTACAGAAAATCGTGCATAAGGGGGATGAGTGTATCCTGAAGGACAACAACGAGCGCAGCAAGTGGTACGTGACGGGCCCGGGAGGCGTTGACATGCTTGTTCCCTCTGTGGGGCTGATCATCCCTCCTCCGAACCCACTGGCCGTGGACCTCTCTTGCAAGTAAGTCATCCAAGTTCCCAAAGCCACGCATGCACGCATGAATGTGAGGGCAGAGGAAGAGGGCAGGTGTTTATACCTGAAGCTTAGACACACGATGCCTTGCCATAATAAACACCTTCTAAAAAAAGGAACCTTGTGAAGGTCACCTTCACTTTGTCTTGCAATTTTATGTTGAATAGACAGTCGTTATTGAAGAATAAAAGGGAATATCTGGCCGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTGGGGAGACCGAGGTGGGCGGATCACCTGAGGTTAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACTCTGTCTCTACTAAAAATATAAAATTAGCCAGGTGTGGTGGTACATGCCTGTAATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATTGCTTGAACCTGGGAGGGGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACGAGAGCAAAACTCCATCTCAAAAAAAAAAAAGGAATGTCTGACTGTAGTGGGGCCAGAGTGAATAATACTTGTCATGCACTTCAAAGGCATCATTTTAAGGTTCTCCTTTTCTTAGAAAATCAGTTGTTATACATGTAGCTACAAATATAAAATGCCTTTAATATCAATATTCACTCATTGTAGGAAGAACATTCGTTTAACAGGTTGTCCATGGCAGATTCCTTTAAACCATTTAGTATCGAAATCTTCAACCACACACTGAATAGGGAGAGTAGTGTAGTAAGCTGCTGTGTGCTCATGACCAAGCTTTGGGTCATTGGCATCTAATGCACCTGCCATCCTGCCTTAGACCTCTGTCAATTACAAAGTTGCCGAAAAACAAGACAACAACAAAAAGTTGTAGTATATATGTCAGCCAATAATGTAGATAATTCAGAATGTACTTTTGGGGAGTAAATGAATCCAAATCCATGAACTGTTTTCAAAGTTATACCTCTACCTGTTACTTTATCAGTGACTGTTGTAGGTTTTTGTGCAGTGGTGTGAGCGTGTCCAGGTTTCCCATTTGGGATGAAGTGTGAAAGCCTGGCTCTAGCATGTTTTCCCTTTGTGCCTCTTAGGATTGAGCAGTACTACGAAGCCATCTTGGCTCTGTGGAACCAGCTCTACATCAACATGAAGAGCCTGGTGTCCTGGCACTACTGCATGATTGACATAGAGAAGATCAGGGCCATGACAATCGCCAAGGTATG
AAAATTGAGGTAGGCTTCATGAGGTTTATATTTTTGTTAGAAAAAAAAAAACTTTTCATAAAGTAAGACTAACCAAATGAGTAATTCTTATATGACTTAAAGCCGTGCCAACTTTATTTTCTATTTTGGGATCAATACCCTACACCAGGGGTTGGCAAACTCTTTTCAGGAAAGGACCAGACAATCAGTATTTTAGACTTTCAGGCCATTTGGTCTCTGTTACAATTACTTAACCCTGCTATTATAGTGCAGAAGGAGGCATAGACACTGTGTAAATGAATGAGTGTGCCTGTATTCCAATAAAACTTTATTTACAAATAGAAGTGGGCCACATGTGGCCCTTGAGCTATAGTTTGGTGACCGCTGCCCTAGACTGCCATCTTTGGGCCACGCTCAAGGCTGACATTAGCTGGTACCACTGGTATGGCCATACTGCTTGTTAAAAAACACAGAAAGTTCCATATCAGTTGGTAAGAATCACTGTCTTGAGCCCCCTAAGCCCTTTGCTTGGATGCCTCGAACCTCCCCATGATTCAGCAATCCTCCAGGAACAGGGCTCGGTGTGGCAAAGGGATGCCACTCCAGTGCTAGCCCCAGTGACAGTTCTGATTGGTCAGTATCTCTGCTATTTGGGTGATACATATTTTGACTAAGACTCCTCATGGTGTCTATTTGTGAAAGCTGATTTTAAAATTTAGTTTTGACCATACCAAGAGATATATGGTGAGAAATTCTCTTTCCAACTTTTAGAAAAATATCTGCTTGACTTAGAATGAGATAAAAACTGCTTACTAGCTTTCATGCAGGCTCACCTATCTCTTGGTGTTCATGCATCTGTACAACTGAGCTAGGCTAAGACAGCTGACATTTTCTTGTTTCAGGCCTATATGGACACTCTGCAGACGCAGTGGAGTTGGATTCTTCAGATCACCAAGTGCATTGATGTTCATCTGAAAGAAAATGCTGCCTACTTTCAGGTTTTTATATTTAGTGATAATTTTGTTGTTATTTAGGTCTTAATACCTAATCTTTTGAGTGTGTTTTATAAAGCACTGAAAATAATCTTCAAAATGTTGCATAAATCCTCTTCATTGATTTTGAGTGCAGAGTAGCATAGATTTGCAACCTTGCCATCAGTCCTACAAATAGTTTCCCGCTGCCACATACCTAAATACTTTCTGCACGAATTTTTTCCTTTAGCCACCTGTCAAAGAGATGTTTAGGGATGACAATCCTTGAAACAGAACTACTAGATGAAATTGCTCATTGAGTTGCTGTTCATTCACTGATCACTCTCATCCTTCACAGTTTTTTGAAGAGGCGCAGTCTACTGAAGCATACCTGAAGGGGCTCCAGGACTCCATCAGGAAGAAGTACCCCTGCGACAAGAACATGCCCCTGCAGCACCTGCTGGAACAGATCAAGGAGCTGGAGGTATCGTCTCAGACCCAGAACCTCAGCAGCTGTGCCTGATCAGGGAGATAAAACACATGCCTTGGATGCAGTTGGCTCTGATTAGTATTATTGTACAATGCACGCCCAGAGCCAAGCAAGCATTTTCTTCAGCTTCCAGTGGCTTTTCTCAAAATTAACTTCTTTACATGCCCAACTACTCTTGACAGTTACTTTTGCTTCAGTCTGGGCAATTGGTTGAAAATAAGAACAGAGAGAACATTACTTCACATGACAATTCCTTTGGGAACGCATACTTCAAATTTTATCAGCATAGCCCTTTCACACAAGGATGTTCTTCCCTGCCCACTTAATTCCTGCCTGCATAGCTTCTGGAGAGTGTTGTCATGAAAGGTTCTCATGTTTCCTGCCGACGAATTTGTGATTTTTTACAATTGATGCAACTGCAGTGATACTCAGTGTGTCATGTAGCTACATTAATGCAGGTTGAAAATCTCCTCTAAAACTCACAGGGTATCTATGTTTAAGTATGATTTTATTCACCATTGCAGAAAGAACGAGAGAAAATCCTTGAATACAAGCGTCAGGTGCAGAACTTGGTAAACAAGTCTAAGAAGATTGTACAGCTGAAGCCTGGTAACCCAGACTACAGAAGCAATAAACCCATTATTCTCAGAGCTCTCTGTGACTACAAACAAGATCAGGTGTGTACTCATTTAGAATGATACAAAAGTTTTCCCTGTCTTTACACACAAATTTTTGTCCATCAAGAAAGCAACATTTAATCTAGAGTTCAATAATCACCACAGTCAATGTCTTTGATCTATGAAATCAGCAGCTATGGAACAAAAGCAGCAGCTCTGTTCTGAATCATATGGTAGTTGTCAATAACAAGGACAGTAGTTATTTTTAGAACTTTTAAAAATTCGCAAGGCTTAATACTTTTCTTCTAGTATGTCAAAGTTGTCTGTGATCACTCTCATCTTTAAATTTCTGATAAAAGAAATGAGAAATGATGCTTTTATGTTGCATATAAAGTGAATGTCTCTCACTATGGGTGACACAGTGAGACCAAATAAATAAATAAAATGTAGCTCACTTCATGTATACCTTTTAGGCTCACATGTATTATTTAAAGCATCGGTATTGTTGGGTTGTATGATGATCAGCTTCATTTGAGGGGAAAAACGTAAAAGCTTTAATAATTCGCATGTGTTCATCTCTGTTTCCATCATTGAGAAAAAAAATAAAAACACATACTTATGAATAAAGCCAAACCCTGGGGTTGCTTGCCTTACAGAAAATCGTGCATAAGGGGGATGAGTGTATCCTGAAGGACAACAACGAGCGCAGCAAGTGGTACGTGACGGGCCCGGGAGGCGTTGACATGCTTGTTCCCTCTGTGGGGCTGATCATCCCTCCTCCGAACCCACTGGCCGTGGACCTCTCTTGCAAGTAAGTCATCCAAGTTCCCAAAGCCACGCATGCACGCATGAATGTGAGGGCAGAGGAAGAGGGCAGGTGTTTATACCTGAAGCTTAGACACACGATGCCTTGCCATAATAAACACCTTCTAAAAAAAGGAACCTTGTGAAGGTCACCTTCACTTTGTCTTGCAATTTTATGTTGAATAGACAGTCGTTATTGAAGAATAAAAGGGAATATCTGGCCGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTGGGGAGACCGAGGTGGGCGGATCACCTGAGGTTAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACTCTGTCTCTACTAAAAATATAAAATTAGCCAGGTGTGGTGGTACATGCCTGTAATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATTGCTTGAACCTGGGAGGGGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACGAGAGCAAAACTCCATCTCAAAAAAAAAAAAGGAATGTCTGACTGTAGTGGGGCCAGAGTGAATAATACTTGTCATGCACTTCAAAGGCATCATTTTAAGGTTCTCCTTTTCTTAGAAAATCAGTTGTTATACATGTAGCTACAAATATAAAATGCCTTTAATATCAATATTCACTCATTGTAGGAAGAACATTCGTTTAACAGGTTGTCCATGGCAGATTCCTTTAAACCATTTAGTATCGAAATCTTCAACCACACACTGAATAGGGAGAGTAGTGTAGTAAGCTGCTGTGTGCTCATGACCAAGCTTTGGGTCATTGGCATCTAATGCACCTGCCATCCTGCCTTAGACCTCTGTCAATTACAAAGTTGCCGAAAAACAAGACAACAACAAAAAGTTGTAGTATATATGTCAGCCAATAATGTAGATAATTCAGAATGTACTTTTGGGGAGTAAATGAATCCAAATCCATGAACTGTTTTCAAAGTTATACCTCTACCTGTTACTTTATCAGTGACTGTTGTAGGTTTTTGTGCAGTGGTGTGAGCGTGTCCAGGTTTCCCATTTGGGATGAAGTGTGAAAGCCTGGCTCTAGCATGTTTTCCCTTTGTGCCTCTTAGGATTGAGCAGTACTACGAAGCCATCTTGGCTCTGTGGAACCAGCTCTACATCAACATGAAGAGCCTGGTGTCCTGGCACTACTGCATGATTGACATAGAGAAGATCAGGGCCATGACAATCGCCAAGGTATG
Task1_train_9991
This sequence variant lies in DSP (desmoplakin) on Chromosome 6. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Arrhythmogenic right ventricular dysplasia 8
AAAATTGAGGTAGGCTTCATGAGGTTTATATTTTTGTTAGAAAAAAAAAAACTTTTCATAAAGTAAGACTAACCAAATGAGTAATTCTTATATGACTTAAAGCCGTGCCAACTTTATTTTCTATTTTGGGATCAATACCCTACACCAGGGGTTGGCAAACTCTTTTCAGGAAAGGACCAGACAATCAGTATTTTAGACTTTCAGGCCATTTGGTCTCTGTTACAATTACTTAACCCTGCTATTATAGTGCAGAAGGAGGCATAGACACTGTGTAAATGAATGAGTGTGCCTGTATTCCAATAAAACTTTATTTACAAATAGAAGTGGGCCACATGTGGCCCTTGAGCTATAGTTTGGTGACCGCTGCCCTAGACTGCCATCTTTGGGCCACGCTCAAGGCTGACATTAGCTGGTACCACTGGTATGGCCATACTGCTTGTTAAAAAACACAGAAAGTTCCATATCAGTTGGTAAGAATCACTGTCTTGAGCCCCCTAAGCCCTTTGCTTGGATGCCTCGAACCTCCCCATGATTCAGCAATCCTCCAGGAACAGGGCTCGGTGTGGCAAAGGGATGCCACTCCAGTGCTAGCCCCAGTGACAGTTCTGATTGGTCAGTATCTCTGCTATTTGGGTGATACATATTTTGACTAAGACTCCTCATGGTGTCTATTTGTGAAAGCTGATTTTAAAATTTAGTTTTGACCATACCAAGAGATATATGGTGAGAAATTCTCTTTCCAACTTTTAGAAAAATATCTGCTTGACTTAGAATGAGATAAAAACTGCTTACTAGCTTTCATGCAGGCTCACCTATCTCTTGGTGTTCATGCATCTGTACAACTGAGCTAGGCTAAGACAGCTGACATTTTCTTGTTTCAGGCCTATATGGACACTCTGCAGACGCAGTGGAGTTGGATTCTTCAGATCACCAAGTGCATTGATGTTCATCTGAAAGAAAATGCTGCCTACTTTCAGGTTTTTATATTTAGTGATAATTTTGTTGTTATTTAGGTCTTAATACCTAATCTTTTGAGTGTGTTTTATAAAGCACTGAAAATAATCTTCAAAATGTTGCATAAATCCTCTTCATTGATTTTGAGTGCAGAGTAGCATAGATTTGCAACCTTGCCATCAGTCCTACAAATAGTTTCCCGCTGCCACATACCTAAATACTTTCTGCACGAATTTTTTCCTTTAGCCACCTGTCAAAGAGATGTTTAGGGATGACAATCCTTGAAACAGAACTACTAGATGAAATTGCTCATTGAGTTGCTGTTCATTCACTGATCACTCTCATCCTTCACAGTTTTTTGAAGAGGCGCAGTCTACTGAAGCATACCTGAAGGGGCTCCAGGACTCCATCAGGAAGAAGTACCCCTGCGACAAGAACATGCCCCTGCAGCACCTGCTGGAACAGATCAAGGAGCTGGAGGTATCGTCTCAGACCCAGAACCTCAGCAGCTGTGCCTGATCAGGGAGATAAAACACATGCCTTGGATGCAGTTGGCTCTGATTAGTATTATTGTACAATGCACGCCCAGAGCCAAGCAAGCATTTTCTTCAGCTTCCAGTGGCTTTTCTCAAAATTAACTTCTTTACATGCCCAACTACTCTTGACAGTTACTTTTGCTTCAGTCTGGGCAATTGGTTGAAAATAAGAACAGAGAGAACATTACTTCACATGACAATTCCTTTGGGAACGCATACTTCAAATTTTATCAGCATAGCCCTTTCACACAAGGATGTTCTTCCCTGCCCACTTAATTCCTGCCTGCATAGCTTCTGGAGAGTGTTGTCATGAAAGGTTCTCATGTTTCCTGCCGACGAATTTGTGATTTTTTACAATTGATGCAACTGCAGTGATACTCAGTGTGTCATGTAGCTACATTAATGCAGGTTGAAAATCTCCTCTAAAACTCACAGGGTATCTATGTTTAAGTATGATTTTATTCACCATTGCAGAAAGAACGAGAGAAAATCCTTGAATACAAGCGTCAGGTGCAGAACTTGGTAAACAAGTCTAAGAAGATTGTACAGCTGAAGCCTCGTAACCCAGACTACAGAAGCAATAAACCCATTATTCTCAGAGCTCTCTGTGACTACAAACAAGATCAGGTGTGTACTCATTTAGAATGATACAAAAGTTTTCCCTGTCTTTACACACAAATTTTTGTCCATCAAGAAAGCAACATTTAATCTAGAGTTCAATAATCACCACAGTCAATGTCTTTGATCTATGAAATCAGCAGCTATGGAACAAAAGCAGCAGCTCTGTTCTGAATCATATGGTAGTTGTCAATAACAAGGACAGTAGTTATTTTTAGAACTTTTAAAAATTCGCAAGGCTTAATACTTTTCTTCTAGTATGTCAAAGTTGTCTGTGATCACTCTCATCTTTAAATTTCTGATAAAAGAAATGAGAAATGATGCTTTTATGTTGCATATAAAGTGAATGTCTCTCACTATGGGTGACACAGTGAGACCAAATAAATAAATAAAATGTAGCTCACTTCATGTATACCTTTTAGGCTCACATGTATTATTTAAAGCATCGGTATTGTTGGGTTGTATGATGATCAGCTTCATTTGAGGGGAAAAACGTAAAAGCTTTAATAATTCGCATGTGTTCATCTCTGTTTCCATCATTGAGAAAAAAAATAAAAACACATACTTATGAATAAAGCCAAACCCTGGGGTTGCTTGCCTTACAGAAAATCGTGCATAAGGGGGATGAGTGTATCCTGAAGGACAACAACGAGCGCAGCAAGTGGTACGTGACGGGCCCGGGAGGCGTTGACATGCTTGTTCCCTCTGTGGGGCTGATCATCCCTCCTCCGAACCCACTGGCCGTGGACCTCTCTTGCAAGTAAGTCATCCAAGTTCCCAAAGCCACGCATGCACGCATGAATGTGAGGGCAGAGGAAGAGGGCAGGTGTTTATACCTGAAGCTTAGACACACGATGCCTTGCCATAATAAACACCTTCTAAAAAAAGGAACCTTGTGAAGGTCACCTTCACTTTGTCTTGCAATTTTATGTTGAATAGACAGTCGTTATTGAAGAATAAAAGGGAATATCTGGCCGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTGGGGAGACCGAGGTGGGCGGATCACCTGAGGTTAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACTCTGTCTCTACTAAAAATATAAAATTAGCCAGGTGTGGTGGTACATGCCTGTAATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATTGCTTGAACCTGGGAGGGGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACGAGAGCAAAACTCCATCTCAAAAAAAAAAAAGGAATGTCTGACTGTAGTGGGGCCAGAGTGAATAATACTTGTCATGCACTTCAAAGGCATCATTTTAAGGTTCTCCTTTTCTTAGAAAATCAGTTGTTATACATGTAGCTACAAATATAAAATGCCTTTAATATCAATATTCACTCATTGTAGGAAGAACATTCGTTTAACAGGTTGTCCATGGCAGATTCCTTTAAACCATTTAGTATCGAAATCTTCAACCACACACTGAATAGGGAGAGTAGTGTAGTAAGCTGCTGTGTGCTCATGACCAAGCTTTGGGTCATTGGCATCTAATGCACCTGCCATCCTGCCTTAGACCTCTGTCAATTACAAAGTTGCCGAAAAACAAGACAACAACAAAAAGTTGTAGTATATATGTCAGCCAATAATGTAGATAATTCAGAATGTACTTTTGGGGAGTAAATGAATCCAAATCCATGAACTGTTTTCAAAGTTATACCTCTACCTGTTACTTTATCAGTGACTGTTGTAGGTTTTTGTGCAGTGGTGTGAGCGTGTCCAGGTTTCCCATTTGGGATGAAGTGTGAAAGCCTGGCTCTAGCATGTTTTCCCTTTGTGCCTCTTAGGATTGAGCAGTACTACGAAGCCATCTTGGCTCTGTGGAACCAGCTCTACATCAACATGAAGAGCCTGGTGTCCTGGCACTACTGCATGATTGACATAGAGAAGATCAGGGCCATGACAATCGCCAAGGTATG
AAAATTGAGGTAGGCTTCATGAGGTTTATATTTTTGTTAGAAAAAAAAAAACTTTTCATAAAGTAAGACTAACCAAATGAGTAATTCTTATATGACTTAAAGCCGTGCCAACTTTATTTTCTATTTTGGGATCAATACCCTACACCAGGGGTTGGCAAACTCTTTTCAGGAAAGGACCAGACAATCAGTATTTTAGACTTTCAGGCCATTTGGTCTCTGTTACAATTACTTAACCCTGCTATTATAGTGCAGAAGGAGGCATAGACACTGTGTAAATGAATGAGTGTGCCTGTATTCCAATAAAACTTTATTTACAAATAGAAGTGGGCCACATGTGGCCCTTGAGCTATAGTTTGGTGACCGCTGCCCTAGACTGCCATCTTTGGGCCACGCTCAAGGCTGACATTAGCTGGTACCACTGGTATGGCCATACTGCTTGTTAAAAAACACAGAAAGTTCCATATCAGTTGGTAAGAATCACTGTCTTGAGCCCCCTAAGCCCTTTGCTTGGATGCCTCGAACCTCCCCATGATTCAGCAATCCTCCAGGAACAGGGCTCGGTGTGGCAAAGGGATGCCACTCCAGTGCTAGCCCCAGTGACAGTTCTGATTGGTCAGTATCTCTGCTATTTGGGTGATACATATTTTGACTAAGACTCCTCATGGTGTCTATTTGTGAAAGCTGATTTTAAAATTTAGTTTTGACCATACCAAGAGATATATGGTGAGAAATTCTCTTTCCAACTTTTAGAAAAATATCTGCTTGACTTAGAATGAGATAAAAACTGCTTACTAGCTTTCATGCAGGCTCACCTATCTCTTGGTGTTCATGCATCTGTACAACTGAGCTAGGCTAAGACAGCTGACATTTTCTTGTTTCAGGCCTATATGGACACTCTGCAGACGCAGTGGAGTTGGATTCTTCAGATCACCAAGTGCATTGATGTTCATCTGAAAGAAAATGCTGCCTACTTTCAGGTTTTTATATTTAGTGATAATTTTGTTGTTATTTAGGTCTTAATACCTAATCTTTTGAGTGTGTTTTATAAAGCACTGAAAATAATCTTCAAAATGTTGCATAAATCCTCTTCATTGATTTTGAGTGCAGAGTAGCATAGATTTGCAACCTTGCCATCAGTCCTACAAATAGTTTCCCGCTGCCACATACCTAAATACTTTCTGCACGAATTTTTTCCTTTAGCCACCTGTCAAAGAGATGTTTAGGGATGACAATCCTTGAAACAGAACTACTAGATGAAATTGCTCATTGAGTTGCTGTTCATTCACTGATCACTCTCATCCTTCACAGTTTTTTGAAGAGGCGCAGTCTACTGAAGCATACCTGAAGGGGCTCCAGGACTCCATCAGGAAGAAGTACCCCTGCGACAAGAACATGCCCCTGCAGCACCTGCTGGAACAGATCAAGGAGCTGGAGGTATCGTCTCAGACCCAGAACCTCAGCAGCTGTGCCTGATCAGGGAGATAAAACACATGCCTTGGATGCAGTTGGCTCTGATTAGTATTATTGTACAATGCACGCCCAGAGCCAAGCAAGCATTTTCTTCAGCTTCCAGTGGCTTTTCTCAAAATTAACTTCTTTACATGCCCAACTACTCTTGACAGTTACTTTTGCTTCAGTCTGGGCAATTGGTTGAAAATAAGAACAGAGAGAACATTACTTCACATGACAATTCCTTTGGGAACGCATACTTCAAATTTTATCAGCATAGCCCTTTCACACAAGGATGTTCTTCCCTGCCCACTTAATTCCTGCCTGCATAGCTTCTGGAGAGTGTTGTCATGAAAGGTTCTCATGTTTCCTGCCGACGAATTTGTGATTTTTTACAATTGATGCAACTGCAGTGATACTCAGTGTGTCATGTAGCTACATTAATGCAGGTTGAAAATCTCCTCTAAAACTCACAGGGTATCTATGTTTAAGTATGATTTTATTCACCATTGCAGAAAGAACGAGAGAAAATCCTTGAATACAAGCGTCAGGTGCAGAACTTGGTAAACAAGTCTAAGAAGATTGTACAGCTGAAGCCTGGTAACCCAGACTACAGAAGCAATAAACCCATTATTCTCAGAGCTCTCTGTGACTACAAACAAGATCAGGTGTGTACTCATTTAGAATGATACAAAAGTTTTCCCTGTCTTTACACACAAATTTTTGTCCATCAAGAAAGCAACATTTAATCTAGAGTTCAATAATCACCACAGTCAATGTCTTTGATCTATGAAATCAGCAGCTATGGAACAAAAGCAGCAGCTCTGTTCTGAATCATATGGTAGTTGTCAATAACAAGGACAGTAGTTATTTTTAGAACTTTTAAAAATTCGCAAGGCTTAATACTTTTCTTCTAGTATGTCAAAGTTGTCTGTGATCACTCTCATCTTTAAATTTCTGATAAAAGAAATGAGAAATGATGCTTTTATGTTGCATATAAAGTGAATGTCTCTCACTATGGGTGACACAGTGAGACCAAATAAATAAATAAAATGTAGCTCACTTCATGTATACCTTTTAGGCTCACATGTATTATTTAAAGCATCGGTATTGTTGGGTTGTATGATGATCAGCTTCATTTGAGGGGAAAAACGTAAAAGCTTTAATAATTCGCATGTGTTCATCTCTGTTTCCATCATTGAGAAAAAAAATAAAAACACATACTTATGAATAAAGCCAAACCCTGGGGTTGCTTGCCTTACAGAAAATCGTGCATAAGGGGGATGAGTGTATCCTGAAGGACAACAACGAGCGCAGCAAGTGGTACGTGACGGGCCCGGGAGGCGTTGACATGCTTGTTCCCTCTGTGGGGCTGATCATCCCTCCTCCGAACCCACTGGCCGTGGACCTCTCTTGCAAGTAAGTCATCCAAGTTCCCAAAGCCACGCATGCACGCATGAATGTGAGGGCAGAGGAAGAGGGCAGGTGTTTATACCTGAAGCTTAGACACACGATGCCTTGCCATAATAAACACCTTCTAAAAAAAGGAACCTTGTGAAGGTCACCTTCACTTTGTCTTGCAATTTTATGTTGAATAGACAGTCGTTATTGAAGAATAAAAGGGAATATCTGGCCGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTGGGGAGACCGAGGTGGGCGGATCACCTGAGGTTAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACTCTGTCTCTACTAAAAATATAAAATTAGCCAGGTGTGGTGGTACATGCCTGTAATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATTGCTTGAACCTGGGAGGGGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACGAGAGCAAAACTCCATCTCAAAAAAAAAAAAGGAATGTCTGACTGTAGTGGGGCCAGAGTGAATAATACTTGTCATGCACTTCAAAGGCATCATTTTAAGGTTCTCCTTTTCTTAGAAAATCAGTTGTTATACATGTAGCTACAAATATAAAATGCCTTTAATATCAATATTCACTCATTGTAGGAAGAACATTCGTTTAACAGGTTGTCCATGGCAGATTCCTTTAAACCATTTAGTATCGAAATCTTCAACCACACACTGAATAGGGAGAGTAGTGTAGTAAGCTGCTGTGTGCTCATGACCAAGCTTTGGGTCATTGGCATCTAATGCACCTGCCATCCTGCCTTAGACCTCTGTCAATTACAAAGTTGCCGAAAAACAAGACAACAACAAAAAGTTGTAGTATATATGTCAGCCAATAATGTAGATAATTCAGAATGTACTTTTGGGGAGTAAATGAATCCAAATCCATGAACTGTTTTCAAAGTTATACCTCTACCTGTTACTTTATCAGTGACTGTTGTAGGTTTTTGTGCAGTGGTGTGAGCGTGTCCAGGTTTCCCATTTGGGATGAAGTGTGAAAGCCTGGCTCTAGCATGTTTTCCCTTTGTGCCTCTTAGGATTGAGCAGTACTACGAAGCCATCTTGGCTCTGTGGAACCAGCTCTACATCAACATGAAGAGCCTGGTGTCCTGGCACTACTGCATGATTGACATAGAGAAGATCAGGGCCATGACAATCGCCAAGGTATG
Task1_train_9992
Located on Chromosome 6, this mutation impacts DSP (desmoplakin). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
AAAATTGAGGTAGGCTTCATGAGGTTTATATTTTTGTTAGAAAAAAAAAAACTTTTCATAAAGTAAGACTAACCAAATGAGTAATTCTTATATGACTTAAAGCCGTGCCAACTTTATTTTCTATTTTGGGATCAATACCCTACACCAGGGGTTGGCAAACTCTTTTCAGGAAAGGACCAGACAATCAGTATTTTAGACTTTCAGGCCATTTGGTCTCTGTTACAATTACTTAACCCTGCTATTATAGTGCAGAAGGAGGCATAGACACTGTGTAAATGAATGAGTGTGCCTGTATTCCAATAAAACTTTATTTACAAATAGAAGTGGGCCACATGTGGCCCTTGAGCTATAGTTTGGTGACCGCTGCCCTAGACTGCCATCTTTGGGCCACGCTCAAGGCTGACATTAGCTGGTACCACTGGTATGGCCATACTGCTTGTTAAAAAACACAGAAAGTTCCATATCAGTTGGTAAGAATCACTGTCTTGAGCCCCCTAAGCCCTTTGCTTGGATGCCTCGAACCTCCCCATGATTCAGCAATCCTCCAGGAACAGGGCTCGGTGTGGCAAAGGGATGCCACTCCAGTGCTAGCCCCAGTGACAGTTCTGATTGGTCAGTATCTCTGCTATTTGGGTGATACATATTTTGACTAAGACTCCTCATGGTGTCTATTTGTGAAAGCTGATTTTAAAATTTAGTTTTGACCATACCAAGAGATATATGGTGAGAAATTCTCTTTCCAACTTTTAGAAAAATATCTGCTTGACTTAGAATGAGATAAAAACTGCTTACTAGCTTTCATGCAGGCTCACCTATCTCTTGGTGTTCATGCATCTGTACAACTGAGCTAGGCTAAGACAGCTGACATTTTCTTGTTTCAGGCCTATATGGACACTCTGCAGACGCAGTGGAGTTGGATTCTTCAGATCACCAAGTGCATTGATGTTCATCTGAAAGAAAATGCTGCCTACTTTCAGGTTTTTATATTTAGTGATAATTTTGTTGTTATTTAGGTCTTAATACCTAATCTTTTGAGTGTGTTTTATAAAGCACTGAAAATAATCTTCAAAATGTTGCATAAATCCTCTTCATTGATTTTGAGTGCAGAGTAGCATAGATTTGCAACCTTGCCATCAGTCCTACAAATAGTTTCCCGCTGCCACATACCTAAATACTTTCTGCACGAATTTTTTCCTTTAGCCACCTGTCAAAGAGATGTTTAGGGATGACAATCCTTGAAACAGAACTACTAGATGAAATTGCTCATTGAGTTGCTGTTCATTCACTGATCACTCTCATCCTTCACAGTTTTTTGAAGAGGCGCAGTCTACTGAAGCATACCTGAAGGGGCTCCAGGACTCCATCAGGAAGAAGTACCCCTGCGACAAGAACATGCCCCTGCAGCACCTGCTGGAACAGATCAAGGAGCTGGAGGTATCGTCTCAGACCCAGAACCTCAGCAGCTGTGCCTGATCAGGGAGATAAAACACATGCCTTGGATGCAGTTGGCTCTGATTAGTATTATTGTACAATGCACGCCCAGAGCCAAGCAAGCATTTTCTTCAGCTTCCAGTGGCTTTTCTCAAAATTAACTTCTTTACATGCCCAACTACTCTTGACAGTTACTTTTGCTTCAGTCTGGGCAATTGGTTGAAAATAAGAACAGAGAGAACATTACTTCACATGACAATTCCTTTGGGAACGCATACTTCAAATTTTATCAGCATAGCCCTTTCACACAAGGATGTTCTTCCCTGCCCACTTAATTCCTGCCTGCATAGCTTCTGGAGAGTGTTGTCATGAAAGGTTCTCATGTTTCCTGCCGACGAATTTGTGATTTTTTACAATTGATGCAACTGCAGTGATACTCAGTGTGTCATGTAGCTACATTAATGCAGGTTGAAAATCTCCTCTAAAACTCACAGGGTATCTATGTTTAAGTATGATTTTATTCACCATTGCAGAAAGAACGAGAGAAAATCCTTGAATACAAGCGTCAGGTGCAGAACTTGGTAAACAAGTCTAAGAAGATTGTACAGCTGAAGCCTCGTAACCCAGACTACAGAAGCAATAAACCCATTATTCTCAGAGCTCTCTGTGACTACAAACAAGATCAGGTGTGTACTCATTTAGAATGATACAAAAGTTTTCCCTGTCTTTACACACAAATTTTTGTCCATCAAGAAAGCAACATTTAATCTAGAGTTCAATAATCACCACAGTCAATGTCTTTGATCTATGAAATCAGCAGCTATGGAACAAAAGCAGCAGCTCTGTTCTGAATCATATGGTAGTTGTCAATAACAAGGACAGTAGTTATTTTTAGAACTTTTAAAAATTCGCAAGGCTTAATACTTTTCTTCTAGTATGTCAAAGTTGTCTGTGATCACTCTCATCTTTAAATTTCTGATAAAAGAAATGAGAAATGATGCTTTTATGTTGCATATAAAGTGAATGTCTCTCACTATGGGTGACACAGTGAGACCAAATAAATAAATAAAATGTAGCTCACTTCATGTATACCTTTTAGGCTCACATGTATTATTTAAAGCATCGGTATTGTTGGGTTGTATGATGATCAGCTTCATTTGAGGGGAAAAACGTAAAAGCTTTAATAATTCGCATGTGTTCATCTCTGTTTCCATCATTGAGAAAAAAAATAAAAACACATACTTATGAATAAAGCCAAACCCTGGGGTTGCTTGCCTTACAGAAAATCGTGCATAAGGGGGATGAGTGTATCCTGAAGGACAACAACGAGCGCAGCAAGTGGTACGTGACGGGCCCGGGAGGCGTTGACATGCTTGTTCCCTCTGTGGGGCTGATCATCCCTCCTCCGAACCCACTGGCCGTGGACCTCTCTTGCAAGTAAGTCATCCAAGTTCCCAAAGCCACGCATGCACGCATGAATGTGAGGGCAGAGGAAGAGGGCAGGTGTTTATACCTGAAGCTTAGACACACGATGCCTTGCCATAATAAACACCTTCTAAAAAAAGGAACCTTGTGAAGGTCACCTTCACTTTGTCTTGCAATTTTATGTTGAATAGACAGTCGTTATTGAAGAATAAAAGGGAATATCTGGCCGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTGGGGAGACCGAGGTGGGCGGATCACCTGAGGTTAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACTCTGTCTCTACTAAAAATATAAAATTAGCCAGGTGTGGTGGTACATGCCTGTAATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATTGCTTGAACCTGGGAGGGGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACGAGAGCAAAACTCCATCTCAAAAAAAAAAAAGGAATGTCTGACTGTAGTGGGGCCAGAGTGAATAATACTTGTCATGCACTTCAAAGGCATCATTTTAAGGTTCTCCTTTTCTTAGAAAATCAGTTGTTATACATGTAGCTACAAATATAAAATGCCTTTAATATCAATATTCACTCATTGTAGGAAGAACATTCGTTTAACAGGTTGTCCATGGCAGATTCCTTTAAACCATTTAGTATCGAAATCTTCAACCACACACTGAATAGGGAGAGTAGTGTAGTAAGCTGCTGTGTGCTCATGACCAAGCTTTGGGTCATTGGCATCTAATGCACCTGCCATCCTGCCTTAGACCTCTGTCAATTACAAAGTTGCCGAAAAACAAGACAACAACAAAAAGTTGTAGTATATATGTCAGCCAATAATGTAGATAATTCAGAATGTACTTTTGGGGAGTAAATGAATCCAAATCCATGAACTGTTTTCAAAGTTATACCTCTACCTGTTACTTTATCAGTGACTGTTGTAGGTTTTTGTGCAGTGGTGTGAGCGTGTCCAGGTTTCCCATTTGGGATGAAGTGTGAAAGCCTGGCTCTAGCATGTTTTCCCTTTGTGCCTCTTAGGATTGAGCAGTACTACGAAGCCATCTTGGCTCTGTGGAACCAGCTCTACATCAACATGAAGAGCCTGGTGTCCTGGCACTACTGCATGATTGACATAGAGAAGATCAGGGCCATGACAATCGCCAAGGTATG
AAAATTGAGGTAGGCTTCATGAGGTTTATATTTTTGTTAGAAAAAAAAAAACTTTTCATAAAGTAAGACTAACCAAATGAGTAATTCTTATATGACTTAAAGCCGTGCCAACTTTATTTTCTATTTTGGGATCAATACCCTACACCAGGGGTTGGCAAACTCTTTTCAGGAAAGGACCAGACAATCAGTATTTTAGACTTTCAGGCCATTTGGTCTCTGTTACAATTACTTAACCCTGCTATTATAGTGCAGAAGGAGGCATAGACACTGTGTAAATGAATGAGTGTGCCTGTATTCCAATAAAACTTTATTTACAAATAGAAGTGGGCCACATGTGGCCCTTGAGCTATAGTTTGGTGACCGCTGCCCTAGACTGCCATCTTTGGGCCACGCTCAAGGCTGACATTAGCTGGTACCACTGGTATGGCCATACTGCTTGTTAAAAAACACAGAAAGTTCCATATCAGTTGGTAAGAATCACTGTCTTGAGCCCCCTAAGCCCTTTGCTTGGATGCCTCGAACCTCCCCATGATTCAGCAATCCTCCAGGAACAGGGCTCGGTGTGGCAAAGGGATGCCACTCCAGTGCTAGCCCCAGTGACAGTTCTGATTGGTCAGTATCTCTGCTATTTGGGTGATACATATTTTGACTAAGACTCCTCATGGTGTCTATTTGTGAAAGCTGATTTTAAAATTTAGTTTTGACCATACCAAGAGATATATGGTGAGAAATTCTCTTTCCAACTTTTAGAAAAATATCTGCTTGACTTAGAATGAGATAAAAACTGCTTACTAGCTTTCATGCAGGCTCACCTATCTCTTGGTGTTCATGCATCTGTACAACTGAGCTAGGCTAAGACAGCTGACATTTTCTTGTTTCAGGCCTATATGGACACTCTGCAGACGCAGTGGAGTTGGATTCTTCAGATCACCAAGTGCATTGATGTTCATCTGAAAGAAAATGCTGCCTACTTTCAGGTTTTTATATTTAGTGATAATTTTGTTGTTATTTAGGTCTTAATACCTAATCTTTTGAGTGTGTTTTATAAAGCACTGAAAATAATCTTCAAAATGTTGCATAAATCCTCTTCATTGATTTTGAGTGCAGAGTAGCATAGATTTGCAACCTTGCCATCAGTCCTACAAATAGTTTCCCGCTGCCACATACCTAAATACTTTCTGCACGAATTTTTTCCTTTAGCCACCTGTCAAAGAGATGTTTAGGGATGACAATCCTTGAAACAGAACTACTAGATGAAATTGCTCATTGAGTTGCTGTTCATTCACTGATCACTCTCATCCTTCACAGTTTTTTGAAGAGGCGCAGTCTACTGAAGCATACCTGAAGGGGCTCCAGGACTCCATCAGGAAGAAGTACCCCTGCGACAAGAACATGCCCCTGCAGCACCTGCTGGAACAGATCAAGGAGCTGGAGGTATCGTCTCAGACCCAGAACCTCAGCAGCTGTGCCTGATCAGGGAGATAAAACACATGCCTTGGATGCAGTTGGCTCTGATTAGTATTATTGTACAATGCACGCCCAGAGCCAAGCAAGCATTTTCTTCAGCTTCCAGTGGCTTTTCTCAAAATTAACTTCTTTACATGCCCAACTACTCTTGACAGTTACTTTTGCTTCAGTCTGGGCAATTGGTTGAAAATAAGAACAGAGAGAACATTACTTCACATGACAATTCCTTTGGGAACGCATACTTCAAATTTTATCAGCATAGCCCTTTCACACAAGGATGTTCTTCCCTGCCCACTTAATTCCTGCCTGCATAGCTTCTGGAGAGTGTTGTCATGAAAGGTTCTCATGTTTCCTGCCGACGAATTTGTGATTTTTTACAATTGATGCAACTGCAGTGATACTCAGTGTGTCATGTAGCTACATTAATGCAGGTTGAAAATCTCCTCTAAAACTCACAGGGTATCTATGTTTAAGTATGATTTTATTCACCATTGCAGAAAGAACGAGAGAAAATCCTTGAATACAAGCGTCAGGTGCAGAACTTGGTAAACAAGTCTAAGAAGATTGTACAGCTGAAGCCTGGTAACCCAGACTACAGAAGCAATAAACCCATTATTCTCAGAGCTCTCTGTGACTACAAACAAGATCAGGTGTGTACTCATTTAGAATGATACAAAAGTTTTCCCTGTCTTTACACACAAATTTTTGTCCATCAAGAAAGCAACATTTAATCTAGAGTTCAATAATCACCACAGTCAATGTCTTTGATCTATGAAATCAGCAGCTATGGAACAAAAGCAGCAGCTCTGTTCTGAATCATATGGTAGTTGTCAATAACAAGGACAGTAGTTATTTTTAGAACTTTTAAAAATTCGCAAGGCTTAATACTTTTCTTCTAGTATGTCAAAGTTGTCTGTGATCACTCTCATCTTTAAATTTCTGATAAAAGAAATGAGAAATGATGCTTTTATGTTGCATATAAAGTGAATGTCTCTCACTATGGGTGACACAGTGAGACCAAATAAATAAATAAAATGTAGCTCACTTCATGTATACCTTTTAGGCTCACATGTATTATTTAAAGCATCGGTATTGTTGGGTTGTATGATGATCAGCTTCATTTGAGGGGAAAAACGTAAAAGCTTTAATAATTCGCATGTGTTCATCTCTGTTTCCATCATTGAGAAAAAAAATAAAAACACATACTTATGAATAAAGCCAAACCCTGGGGTTGCTTGCCTTACAGAAAATCGTGCATAAGGGGGATGAGTGTATCCTGAAGGACAACAACGAGCGCAGCAAGTGGTACGTGACGGGCCCGGGAGGCGTTGACATGCTTGTTCCCTCTGTGGGGCTGATCATCCCTCCTCCGAACCCACTGGCCGTGGACCTCTCTTGCAAGTAAGTCATCCAAGTTCCCAAAGCCACGCATGCACGCATGAATGTGAGGGCAGAGGAAGAGGGCAGGTGTTTATACCTGAAGCTTAGACACACGATGCCTTGCCATAATAAACACCTTCTAAAAAAAGGAACCTTGTGAAGGTCACCTTCACTTTGTCTTGCAATTTTATGTTGAATAGACAGTCGTTATTGAAGAATAAAAGGGAATATCTGGCCGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTGGGGAGACCGAGGTGGGCGGATCACCTGAGGTTAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACTCTGTCTCTACTAAAAATATAAAATTAGCCAGGTGTGGTGGTACATGCCTGTAATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATTGCTTGAACCTGGGAGGGGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACGAGAGCAAAACTCCATCTCAAAAAAAAAAAAGGAATGTCTGACTGTAGTGGGGCCAGAGTGAATAATACTTGTCATGCACTTCAAAGGCATCATTTTAAGGTTCTCCTTTTCTTAGAAAATCAGTTGTTATACATGTAGCTACAAATATAAAATGCCTTTAATATCAATATTCACTCATTGTAGGAAGAACATTCGTTTAACAGGTTGTCCATGGCAGATTCCTTTAAACCATTTAGTATCGAAATCTTCAACCACACACTGAATAGGGAGAGTAGTGTAGTAAGCTGCTGTGTGCTCATGACCAAGCTTTGGGTCATTGGCATCTAATGCACCTGCCATCCTGCCTTAGACCTCTGTCAATTACAAAGTTGCCGAAAAACAAGACAACAACAAAAAGTTGTAGTATATATGTCAGCCAATAATGTAGATAATTCAGAATGTACTTTTGGGGAGTAAATGAATCCAAATCCATGAACTGTTTTCAAAGTTATACCTCTACCTGTTACTTTATCAGTGACTGTTGTAGGTTTTTGTGCAGTGGTGTGAGCGTGTCCAGGTTTCCCATTTGGGATGAAGTGTGAAAGCCTGGCTCTAGCATGTTTTCCCTTTGTGCCTCTTAGGATTGAGCAGTACTACGAAGCCATCTTGGCTCTGTGGAACCAGCTCTACATCAACATGAAGAGCCTGGTGTCCTGGCACTACTGCATGATTGACATAGAGAAGATCAGGGCCATGACAATCGCCAAGGTATG
Task1_train_9993
This variant affects gene DSP (desmoplakin) located on Chromosome 6. Evaluate its biological effect and specify any disease association.
Pathogenic; Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
TGTACAGCTGAAGCCTCGTAACCCAGACTACAGAAGCAATAAACCCATTATTCTCAGAGCTCTCTGTGACTACAAACAAGATCAGGTGTGTACTCATTTAGAATGATACAAAAGTTTTCCCTGTCTTTACACACAAATTTTTGTCCATCAAGAAAGCAACATTTAATCTAGAGTTCAATAATCACCACAGTCAATGTCTTTGATCTATGAAATCAGCAGCTATGGAACAAAAGCAGCAGCTCTGTTCTGAATCATATGGTAGTTGTCAATAACAAGGACAGTAGTTATTTTTAGAACTTTTAAAAATTCGCAAGGCTTAATACTTTTCTTCTAGTATGTCAAAGTTGTCTGTGATCACTCTCATCTTTAAATTTCTGATAAAAGAAATGAGAAATGATGCTTTTATGTTGCATATAAAGTGAATGTCTCTCACTATGGGTGACACAGTGAGACCAAATAAATAAATAAAATGTAGCTCACTTCATGTATACCTTTTAGGCTCACATGTATTATTTAAAGCATCGGTATTGTTGGGTTGTATGATGATCAGCTTCATTTGAGGGGAAAAACGTAAAAGCTTTAATAATTCGCATGTGTTCATCTCTGTTTCCATCATTGAGAAAAAAAATAAAAACACATACTTATGAATAAAGCCAAACCCTGGGGTTGCTTGCCTTACAGAAAATCGTGCATAAGGGGGATGAGTGTATCCTGAAGGACAACAACGAGCGCAGCAAGTGGTACGTGACGGGCCCGGGAGGCGTTGACATGCTTGTTCCCTCTGTGGGGCTGATCATCCCTCCTCCGAACCCACTGGCCGTGGACCTCTCTTGCAAGTAAGTCATCCAAGTTCCCAAAGCCACGCATGCACGCATGAATGTGAGGGCAGAGGAAGAGGGCAGGTGTTTATACCTGAAGCTTAGACACACGATGCCTTGCCATAATAAACACCTTCTAAAAAAAGGAACCTTGTGAAGGTCACCTTCACTTTGTCTTGCAATTTTATGTTGAATAGACAGTCGTTATTGAAGAATAAAAGGGAATATCTGGCCGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTGGGGAGACCGAGGTGGGCGGATCACCTGAGGTTAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACTCTGTCTCTACTAAAAATATAAAATTAGCCAGGTGTGGTGGTACATGCCTGTAATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATTGCTTGAACCTGGGAGGGGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACGAGAGCAAAACTCCATCTCAAAAAAAAAAAAGGAATGTCTGACTGTAGTGGGGCCAGAGTGAATAATACTTGTCATGCACTTCAAAGGCATCATTTTAAGGTTCTCCTTTTCTTAGAAAATCAGTTGTTATACATGTAGCTACAAATATAAAATGCCTTTAATATCAATATTCACTCATTGTAGGAAGAACATTCGTTTAACAGGTTGTCCATGGCAGATTCCTTTAAACCATTTAGTATCGAAATCTTCAACCACACACTGAATAGGGAGAGTAGTGTAGTAAGCTGCTGTGTGCTCATGACCAAGCTTTGGGTCATTGGCATCTAATGCACCTGCCATCCTGCCTTAGACCTCTGTCAATTACAAAGTTGCCGAAAAACAAGACAACAACAAAAAGTTGTAGTATATATGTCAGCCAATAATGTAGATAATTCAGAATGTACTTTTGGGGAGTAAATGAATCCAAATCCATGAACTGTTTTCAAAGTTATACCTCTACCTGTTACTTTATCAGTGACTGTTGTAGGTTTTTGTGCAGTGGTGTGAGCGTGTCCAGGTTTCCCATTTGGGATGAAGTGTGAAAGCCTGGCTCTAGCATGTTTTCCCTTTGTGCCTCTTAGGATTGAGCAGTACTACGAAGCCATCTTGGCTCTGTGGAACCAGCTCTACATCAACATGAAGAGCCTGGTGTCCTGGCACTACTGCATGATTGACATAGAGAAGATCAGGGCCATGACAATCGCCAAGGTATGTCCTCAGGGCCACTTAGGCTGCCTGGAGGGAGGGCAGCGCTGCCCCCCGCAGTGCCTGTGTCCAACAGTTCAACCTTCTTGCTGTGTAGCAGTGCTTTTGTGTCTCGTCAAGCAAGTCAGCTCAGCCCTCCTTAGAGGTTCTGGTCTGTCCAATAGAGAACAGGAGGGATTAGCATATGGCTGATTATGAGAGAAAGAAGCAATACTAATTCAGGTGGCCTGACAAGCAAGCCAGAAGTGCCTGTGGAAAAGTCATGCACTCCTGTAAGATTCTGGACCCTATGCTCCTTTGATGTAATGGAAAGTTAGGTCATAAAGGATTAACTGGGTATCACAAAAGTAAAAGGTGGGATAGAATTCTTGGAAGAGCACCCAAAGCATTACTTACTCTAAATCAGTTGTTTTCAGATCATGGTCTGAAGAATCCTAGCAGGAGAGGGAGATCCTTTAGGAGTGACAGGGATGGAAGTGAGGAGAGGGGCACAGAAAGTACCTTTTGGGGTCCCCCGAGCCCTTTTTCTCTTTGTAGTTGGAGCAGCTTTGCTGGGCTCTGCTTTACATTTAGGGCTTCTGAATAATATTTCGTTGAAGAAAAATATTCTGTAGGCAAAAAAAAAAAAAAAAAATTAGCAACCCATTCCTGTGGCTCTTGGGAACAATGTCTAAAACCTAAAAGACCTTTTATATCTTAATGAGCCTGTGATGAGTGTTGCTTTGAGTCCCATCTAGTGGGTGGCATTTTTTGGCCAACTCTTCTTGATTGCATTGTGGGGCAGTCATAAATCCCAAATCACTTCTGCCTGTCTCCTTTCAGCTGAAAACAATGCGGCAGGAAGATTACATGAAGACGATAGCCGACCTTGAGTTACATTACCAAGAGTTCATCAGAAATAGCCAAGGCTCAGAGATGTTTGGAGATGATGACAAGCGGAAAATACAGTCTCAGTTCACCGATGCCCAGAAGCATTACCAGACCCTGGTCATTCAGCTCCCTGGCTATCCCCAGCACCAGACAGGTCGGCTTGGGACATCTTTCTCTTTGTATCAACCATCCATACCATTTTAAAAAGAAGGGAGTTTGCATAAAACTGGTTTCAGAACCATTTCTCTGAATGCTATATAGCCAGTGTTCTTCGTGCACTAAATTTTCAGAATTGATTCTGAAATTCAAAGGAAGAAGGTATACTTTTAGGTAGTATGGATGTTTTTTGAGGCCTAGCACCTTGATACCTAGGTATTCTCTGATTTTTGTGGCCCTAACTTCTTTTTACAGTGACCACAACTGAAATCACTCATCATGGAACCTGCCAAGATGTCAACCATAATAAAGTAATTGAAACCAACAGAGAAAATGACAAGCAAGAAACATGGATGCTGATGGAGCTGCAGAAGATTCGCAGGCAGATAGAGCACTGCGAGGGCAGGATGACTCTCAAAAACCTCCCTCTAGCAGACCAGGGATCTTCTCACCACATCACAGTGAAAATTAACGAGCTTAAGGTAGGTATCTGCTAGTATTTTGCCTGGTTACCCTGTATATTTTTATTTACCTGTAAATGAATAAAAAAAATCCTGGTTTAAATGTTTGTAGGCAAAAATATTAACTTTCAAGAAAACAGGCTTCTGGCAGGATTTCCTTATGTATTATGTTTCCAAATTTGTAGACGGTTATCAGGCTGGGGGTTAAACTGTTCGTTTGTGTGTTGTTGAATCAGGCTACCGTCCATCTCAAAAGTTTTCACAACCATTAATTTGGCTTCTTGCAGAGAACAACCTATGATATGGGTTAGACAGGGGGAATGATCTTTATTTGTAGACATGACACTGACATGAAGAGATTTGGTTGGTGAGATACGATCTCAAAGCCATAGACAGAGTGTGACTATGGCCCAGGTGTGTCAGCTCCTAACTCAGTGATGTTTTCTGCTCAACCAAGCCTGGGCACACTGCACTGGAAGGCCTAAATAGAGATATTCTAAGAGGATCACATTTACAGTGCTAATGAGGCCATACTCAAGAAAGAAATAGAAGG
TGTACAGCTGAAGCCTCGTAACCCAGACTACAGAAGCAATAAACCCATTATTCTCAGAGCTCTCTGTGACTACAAACAAGATCAGGTGTGTACTCATTTAGAATGATACAAAAGTTTTCCCTGTCTTTACACACAAATTTTTGTCCATCAAGAAAGCAACATTTAATCTAGAGTTCAATAATCACCACAGTCAATGTCTTTGATCTATGAAATCAGCAGCTATGGAACAAAAGCAGCAGCTCTGTTCTGAATCATATGGTAGTTGTCAATAACAAGGACAGTAGTTATTTTTAGAACTTTTAAAAATTCGCAAGGCTTAATACTTTTCTTCTAGTATGTCAAAGTTGTCTGTGATCACTCTCATCTTTAAATTTCTGATAAAAGAAATGAGAAATGATGCTTTTATGTTGCATATAAAGTGAATGTCTCTCACTATGGGTGACACAGTGAGACCAAATAAATAAATAAAATGTAGCTCACTTCATGTATACCTTTTAGGCTCACATGTATTATTTAAAGCATCGGTATTGTTGGGTTGTATGATGATCAGCTTCATTTGAGGGGAAAAACGTAAAAGCTTTAATAATTCGCATGTGTTCATCTCTGTTTCCATCATTGAGAAAAAAAATAAAAACACATACTTATGAATAAAGCCAAACCCTGGGGTTGCTTGCCTTACAGAAAATCGTGCATAAGGGGGATGAGTGTATCCTGAAGGACAACAACGAGCGCAGCAAGTGGTACGTGACGGGCCCGGGAGGCGTTGACATGCTTGTTCCCTCTGTGGGGCTGATCATCCCTCCTCCGAACCCACTGGCCGTGGACCTCTCTTGCAAGTAAGTCATCCAAGTTCCCAAAGCCACGCATGCACGCATGAATGTGAGGGCAGAGGAAGAGGGCAGGTGTTTATACCTGAAGCTTAGACACACGATGCCTTGCCATAATAAACACCTTCTAAAAAAAGGAACCTTGTGAAGGTCACCTTCACTTTGTCTTGCAATTTTATGTTGAATAGACAGTCGTTATTGAAGAATAAAAGGGAATATCTGGCCGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTGGGGAGACCGAGGTGGGCGGATCACCTGAGGTTAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACTCTGTCTCTACTAAAAATATAAAATTAGCCAGGTGTGGTGGTACATGCCTGTAATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATTGCTTGAACCTGGGAGGGGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACGAGAGCAAAACTCCATCTCAAAAAAAAAAAAGGAATGTCTGACTGTAGTGGGGCCAGAGTGAATAATACTTGTCATGCACTTCAAAGGCATCATTTTAAGGTTCTCCTTTTCTTAGAAAATCAGTTGTTATACATGTAGCTACAAATATAAAATGCCTTTAATATCAATATTCACTCATTGTAGGAAGAACATTCGTTTAACAGGTTGTCCATGGCAGATTCCTTTAAACCATTTAGTATCGAAATCTTCAACCACACACTGAATAGGGAGAGTAGTGTAGTAAGCTGCTGTGTGCTCATGACCAAGCTTTGGGTCATTGGCATCTAATGCACCTGCCATCCTGCCTTAGACCTCTGTCAATTACAAAGTTGCCGAAAAACAAGACAACAACAAAAAGTTGTAGTATATATGTCAGCCAATAATGTAGATAATTCAGAATGTACTTTTGGGGAGTAAATGAATCCAAATCCATGAACTGTTTTCAAAGTTATACCTCTACCTGTTACTTTATCAGTGACTGTTGTAGGTTTTTGTGCAGTGGTGTGAGCGTGTCCAGGTTTCCCATTTGGGATGAAGTGTGAAAGCCTGGCTCTAGCATGTTTTCCCTTTGTGCCTCTTAGGATTGAGCAGTACTACGAAGCCATCTTGGCTCTGTGGAACCAGCTCTACATCAACATGAAGAGCCTGGTGTCCTGGCACTACTGCATGATTGACATAGAGAAGATCAGGGCCATGATAATCGCCAAGGTATGTCCTCAGGGCCACTTAGGCTGCCTGGAGGGAGGGCAGCGCTGCCCCCCGCAGTGCCTGTGTCCAACAGTTCAACCTTCTTGCTGTGTAGCAGTGCTTTTGTGTCTCGTCAAGCAAGTCAGCTCAGCCCTCCTTAGAGGTTCTGGTCTGTCCAATAGAGAACAGGAGGGATTAGCATATGGCTGATTATGAGAGAAAGAAGCAATACTAATTCAGGTGGCCTGACAAGCAAGCCAGAAGTGCCTGTGGAAAAGTCATGCACTCCTGTAAGATTCTGGACCCTATGCTCCTTTGATGTAATGGAAAGTTAGGTCATAAAGGATTAACTGGGTATCACAAAAGTAAAAGGTGGGATAGAATTCTTGGAAGAGCACCCAAAGCATTACTTACTCTAAATCAGTTGTTTTCAGATCATGGTCTGAAGAATCCTAGCAGGAGAGGGAGATCCTTTAGGAGTGACAGGGATGGAAGTGAGGAGAGGGGCACAGAAAGTACCTTTTGGGGTCCCCCGAGCCCTTTTTCTCTTTGTAGTTGGAGCAGCTTTGCTGGGCTCTGCTTTACATTTAGGGCTTCTGAATAATATTTCGTTGAAGAAAAATATTCTGTAGGCAAAAAAAAAAAAAAAAAATTAGCAACCCATTCCTGTGGCTCTTGGGAACAATGTCTAAAACCTAAAAGACCTTTTATATCTTAATGAGCCTGTGATGAGTGTTGCTTTGAGTCCCATCTAGTGGGTGGCATTTTTTGGCCAACTCTTCTTGATTGCATTGTGGGGCAGTCATAAATCCCAAATCACTTCTGCCTGTCTCCTTTCAGCTGAAAACAATGCGGCAGGAAGATTACATGAAGACGATAGCCGACCTTGAGTTACATTACCAAGAGTTCATCAGAAATAGCCAAGGCTCAGAGATGTTTGGAGATGATGACAAGCGGAAAATACAGTCTCAGTTCACCGATGCCCAGAAGCATTACCAGACCCTGGTCATTCAGCTCCCTGGCTATCCCCAGCACCAGACAGGTCGGCTTGGGACATCTTTCTCTTTGTATCAACCATCCATACCATTTTAAAAAGAAGGGAGTTTGCATAAAACTGGTTTCAGAACCATTTCTCTGAATGCTATATAGCCAGTGTTCTTCGTGCACTAAATTTTCAGAATTGATTCTGAAATTCAAAGGAAGAAGGTATACTTTTAGGTAGTATGGATGTTTTTTGAGGCCTAGCACCTTGATACCTAGGTATTCTCTGATTTTTGTGGCCCTAACTTCTTTTTACAGTGACCACAACTGAAATCACTCATCATGGAACCTGCCAAGATGTCAACCATAATAAAGTAATTGAAACCAACAGAGAAAATGACAAGCAAGAAACATGGATGCTGATGGAGCTGCAGAAGATTCGCAGGCAGATAGAGCACTGCGAGGGCAGGATGACTCTCAAAAACCTCCCTCTAGCAGACCAGGGATCTTCTCACCACATCACAGTGAAAATTAACGAGCTTAAGGTAGGTATCTGCTAGTATTTTGCCTGGTTACCCTGTATATTTTTATTTACCTGTAAATGAATAAAAAAAATCCTGGTTTAAATGTTTGTAGGCAAAAATATTAACTTTCAAGAAAACAGGCTTCTGGCAGGATTTCCTTATGTATTATGTTTCCAAATTTGTAGACGGTTATCAGGCTGGGGGTTAAACTGTTCGTTTGTGTGTTGTTGAATCAGGCTACCGTCCATCTCAAAAGTTTTCACAACCATTAATTTGGCTTCTTGCAGAGAACAACCTATGATATGGGTTAGACAGGGGGAATGATCTTTATTTGTAGACATGACACTGACATGAAGAGATTTGGTTGGTGAGATACGATCTCAAAGCCATAGACAGAGTGTGACTATGGCCCAGGTGTGTCAGCTCCTAACTCAGTGATGTTTTCTGCTCAACCAAGCCTGGGCACACTGCACTGGAAGGCCTAAATAGAGATATTCTAAGAGGATCACATTTACAGTGCTAATGAGGCCATACTCAAGAAAGAAATAGAAGG
Task1_train_9994
This variant lies on Chromosome 6 and affects the gene DSP (desmoplakin). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Arrhythmogenic right ventricular dysplasia 8
TGTACAGCTGAAGCCTCGTAACCCAGACTACAGAAGCAATAAACCCATTATTCTCAGAGCTCTCTGTGACTACAAACAAGATCAGGTGTGTACTCATTTAGAATGATACAAAAGTTTTCCCTGTCTTTACACACAAATTTTTGTCCATCAAGAAAGCAACATTTAATCTAGAGTTCAATAATCACCACAGTCAATGTCTTTGATCTATGAAATCAGCAGCTATGGAACAAAAGCAGCAGCTCTGTTCTGAATCATATGGTAGTTGTCAATAACAAGGACAGTAGTTATTTTTAGAACTTTTAAAAATTCGCAAGGCTTAATACTTTTCTTCTAGTATGTCAAAGTTGTCTGTGATCACTCTCATCTTTAAATTTCTGATAAAAGAAATGAGAAATGATGCTTTTATGTTGCATATAAAGTGAATGTCTCTCACTATGGGTGACACAGTGAGACCAAATAAATAAATAAAATGTAGCTCACTTCATGTATACCTTTTAGGCTCACATGTATTATTTAAAGCATCGGTATTGTTGGGTTGTATGATGATCAGCTTCATTTGAGGGGAAAAACGTAAAAGCTTTAATAATTCGCATGTGTTCATCTCTGTTTCCATCATTGAGAAAAAAAATAAAAACACATACTTATGAATAAAGCCAAACCCTGGGGTTGCTTGCCTTACAGAAAATCGTGCATAAGGGGGATGAGTGTATCCTGAAGGACAACAACGAGCGCAGCAAGTGGTACGTGACGGGCCCGGGAGGCGTTGACATGCTTGTTCCCTCTGTGGGGCTGATCATCCCTCCTCCGAACCCACTGGCCGTGGACCTCTCTTGCAAGTAAGTCATCCAAGTTCCCAAAGCCACGCATGCACGCATGAATGTGAGGGCAGAGGAAGAGGGCAGGTGTTTATACCTGAAGCTTAGACACACGATGCCTTGCCATAATAAACACCTTCTAAAAAAAGGAACCTTGTGAAGGTCACCTTCACTTTGTCTTGCAATTTTATGTTGAATAGACAGTCGTTATTGAAGAATAAAAGGGAATATCTGGCCGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTGGGGAGACCGAGGTGGGCGGATCACCTGAGGTTAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACTCTGTCTCTACTAAAAATATAAAATTAGCCAGGTGTGGTGGTACATGCCTGTAATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATTGCTTGAACCTGGGAGGGGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACGAGAGCAAAACTCCATCTCAAAAAAAAAAAAGGAATGTCTGACTGTAGTGGGGCCAGAGTGAATAATACTTGTCATGCACTTCAAAGGCATCATTTTAAGGTTCTCCTTTTCTTAGAAAATCAGTTGTTATACATGTAGCTACAAATATAAAATGCCTTTAATATCAATATTCACTCATTGTAGGAAGAACATTCGTTTAACAGGTTGTCCATGGCAGATTCCTTTAAACCATTTAGTATCGAAATCTTCAACCACACACTGAATAGGGAGAGTAGTGTAGTAAGCTGCTGTGTGCTCATGACCAAGCTTTGGGTCATTGGCATCTAATGCACCTGCCATCCTGCCTTAGACCTCTGTCAATTACAAAGTTGCCGAAAAACAAGACAACAACAAAAAGTTGTAGTATATATGTCAGCCAATAATGTAGATAATTCAGAATGTACTTTTGGGGAGTAAATGAATCCAAATCCATGAACTGTTTTCAAAGTTATACCTCTACCTGTTACTTTATCAGTGACTGTTGTAGGTTTTTGTGCAGTGGTGTGAGCGTGTCCAGGTTTCCCATTTGGGATGAAGTGTGAAAGCCTGGCTCTAGCATGTTTTCCCTTTGTGCCTCTTAGGATTGAGCAGTACTACGAAGCCATCTTGGCTCTGTGGAACCAGCTCTACATCAACATGAAGAGCCTGGTGTCCTGGCACTACTGCATGATTGACATAGAGAAGATCAGGGCCATGACAATCGCCAAGGTATGTCCTCAGGGCCACTTAGGCTGCCTGGAGGGAGGGCAGCGCTGCCCCCCGCAGTGCCTGTGTCCAACAGTTCAACCTTCTTGCTGTGTAGCAGTGCTTTTGTGTCTCGTCAAGCAAGTCAGCTCAGCCCTCCTTAGAGGTTCTGGTCTGTCCAATAGAGAACAGGAGGGATTAGCATATGGCTGATTATGAGAGAAAGAAGCAATACTAATTCAGGTGGCCTGACAAGCAAGCCAGAAGTGCCTGTGGAAAAGTCATGCACTCCTGTAAGATTCTGGACCCTATGCTCCTTTGATGTAATGGAAAGTTAGGTCATAAAGGATTAACTGGGTATCACAAAAGTAAAAGGTGGGATAGAATTCTTGGAAGAGCACCCAAAGCATTACTTACTCTAAATCAGTTGTTTTCAGATCATGGTCTGAAGAATCCTAGCAGGAGAGGGAGATCCTTTAGGAGTGACAGGGATGGAAGTGAGGAGAGGGGCACAGAAAGTACCTTTTGGGGTCCCCCGAGCCCTTTTTCTCTTTGTAGTTGGAGCAGCTTTGCTGGGCTCTGCTTTACATTTAGGGCTTCTGAATAATATTTCGTTGAAGAAAAATATTCTGTAGGCAAAAAAAAAAAAAAAAAATTAGCAACCCATTCCTGTGGCTCTTGGGAACAATGTCTAAAACCTAAAAGACCTTTTATATCTTAATGAGCCTGTGATGAGTGTTGCTTTGAGTCCCATCTAGTGGGTGGCATTTTTTGGCCAACTCTTCTTGATTGCATTGTGGGGCAGTCATAAATCCCAAATCACTTCTGCCTGTCTCCTTTCAGCTGAAAACAATGCGGCAGGAAGATTACATGAAGACGATAGCCGACCTTGAGTTACATTACCAAGAGTTCATCAGAAATAGCCAAGGCTCAGAGATGTTTGGAGATGATGACAAGCGGAAAATACAGTCTCAGTTCACCGATGCCCAGAAGCATTACCAGACCCTGGTCATTCAGCTCCCTGGCTATCCCCAGCACCAGACAGGTCGGCTTGGGACATCTTTCTCTTTGTATCAACCATCCATACCATTTTAAAAAGAAGGGAGTTTGCATAAAACTGGTTTCAGAACCATTTCTCTGAATGCTATATAGCCAGTGTTCTTCGTGCACTAAATTTTCAGAATTGATTCTGAAATTCAAAGGAAGAAGGTATACTTTTAGGTAGTATGGATGTTTTTTGAGGCCTAGCACCTTGATACCTAGGTATTCTCTGATTTTTGTGGCCCTAACTTCTTTTTACAGTGACCACAACTGAAATCACTCATCATGGAACCTGCCAAGATGTCAACCATAATAAAGTAATTGAAACCAACAGAGAAAATGACAAGCAAGAAACATGGATGCTGATGGAGCTGCAGAAGATTCGCAGGCAGATAGAGCACTGCGAGGGCAGGATGACTCTCAAAAACCTCCCTCTAGCAGACCAGGGATCTTCTCACCACATCACAGTGAAAATTAACGAGCTTAAGGTAGGTATCTGCTAGTATTTTGCCTGGTTACCCTGTATATTTTTATTTACCTGTAAATGAATAAAAAAAATCCTGGTTTAAATGTTTGTAGGCAAAAATATTAACTTTCAAGAAAACAGGCTTCTGGCAGGATTTCCTTATGTATTATGTTTCCAAATTTGTAGACGGTTATCAGGCTGGGGGTTAAACTGTTCGTTTGTGTGTTGTTGAATCAGGCTACCGTCCATCTCAAAAGTTTTCACAACCATTAATTTGGCTTCTTGCAGAGAACAACCTATGATATGGGTTAGACAGGGGGAATGATCTTTATTTGTAGACATGACACTGACATGAAGAGATTTGGTTGGTGAGATACGATCTCAAAGCCATAGACAGAGTGTGACTATGGCCCAGGTGTGTCAGCTCCTAACTCAGTGATGTTTTCTGCTCAACCAAGCCTGGGCACACTGCACTGGAAGGCCTAAATAGAGATATTCTAAGAGGATCACATTTACAGTGCTAATGAGGCCATACTCAAGAAAGAAATAGAAGG
TGTACAGCTGAAGCCTCGTAACCCAGACTACAGAAGCAATAAACCCATTATTCTCAGAGCTCTCTGTGACTACAAACAAGATCAGGTGTGTACTCATTTAGAATGATACAAAAGTTTTCCCTGTCTTTACACACAAATTTTTGTCCATCAAGAAAGCAACATTTAATCTAGAGTTCAATAATCACCACAGTCAATGTCTTTGATCTATGAAATCAGCAGCTATGGAACAAAAGCAGCAGCTCTGTTCTGAATCATATGGTAGTTGTCAATAACAAGGACAGTAGTTATTTTTAGAACTTTTAAAAATTCGCAAGGCTTAATACTTTTCTTCTAGTATGTCAAAGTTGTCTGTGATCACTCTCATCTTTAAATTTCTGATAAAAGAAATGAGAAATGATGCTTTTATGTTGCATATAAAGTGAATGTCTCTCACTATGGGTGACACAGTGAGACCAAATAAATAAATAAAATGTAGCTCACTTCATGTATACCTTTTAGGCTCACATGTATTATTTAAAGCATCGGTATTGTTGGGTTGTATGATGATCAGCTTCATTTGAGGGGAAAAACGTAAAAGCTTTAATAATTCGCATGTGTTCATCTCTGTTTCCATCATTGAGAAAAAAAATAAAAACACATACTTATGAATAAAGCCAAACCCTGGGGTTGCTTGCCTTACAGAAAATCGTGCATAAGGGGGATGAGTGTATCCTGAAGGACAACAACGAGCGCAGCAAGTGGTACGTGACGGGCCCGGGAGGCGTTGACATGCTTGTTCCCTCTGTGGGGCTGATCATCCCTCCTCCGAACCCACTGGCCGTGGACCTCTCTTGCAAGTAAGTCATCCAAGTTCCCAAAGCCACGCATGCACGCATGAATGTGAGGGCAGAGGAAGAGGGCAGGTGTTTATACCTGAAGCTTAGACACACGATGCCTTGCCATAATAAACACCTTCTAAAAAAAGGAACCTTGTGAAGGTCACCTTCACTTTGTCTTGCAATTTTATGTTGAATAGACAGTCGTTATTGAAGAATAAAAGGGAATATCTGGCCGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTGGGGAGACCGAGGTGGGCGGATCACCTGAGGTTAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACTCTGTCTCTACTAAAAATATAAAATTAGCCAGGTGTGGTGGTACATGCCTGTAATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATTGCTTGAACCTGGGAGGGGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACGAGAGCAAAACTCCATCTCAAAAAAAAAAAAGGAATGTCTGACTGTAGTGGGGCCAGAGTGAATAATACTTGTCATGCACTTCAAAGGCATCATTTTAAGGTTCTCCTTTTCTTAGAAAATCAGTTGTTATACATGTAGCTACAAATATAAAATGCCTTTAATATCAATATTCACTCATTGTAGGAAGAACATTCGTTTAACAGGTTGTCCATGGCAGATTCCTTTAAACCATTTAGTATCGAAATCTTCAACCACACACTGAATAGGGAGAGTAGTGTAGTAAGCTGCTGTGTGCTCATGACCAAGCTTTGGGTCATTGGCATCTAATGCACCTGCCATCCTGCCTTAGACCTCTGTCAATTACAAAGTTGCCGAAAAACAAGACAACAACAAAAAGTTGTAGTATATATGTCAGCCAATAATGTAGATAATTCAGAATGTACTTTTGGGGAGTAAATGAATCCAAATCCATGAACTGTTTTCAAAGTTATACCTCTACCTGTTACTTTATCAGTGACTGTTGTAGGTTTTTGTGCAGTGGTGTGAGCGTGTCCAGGTTTCCCATTTGGGATGAAGTGTGAAAGCCTGGCTCTAGCATGTTTTCCCTTTGTGCCTCTTAGGATTGAGCAGTACTACGAAGCCATCTTGGCTCTGTGGAACCAGCTCTACATCAACATGAAGAGCCTGGTGTCCTGGCACTACTGCATGATTGACATAGAGAAGATCAGGGCCATGATAATCGCCAAGGTATGTCCTCAGGGCCACTTAGGCTGCCTGGAGGGAGGGCAGCGCTGCCCCCCGCAGTGCCTGTGTCCAACAGTTCAACCTTCTTGCTGTGTAGCAGTGCTTTTGTGTCTCGTCAAGCAAGTCAGCTCAGCCCTCCTTAGAGGTTCTGGTCTGTCCAATAGAGAACAGGAGGGATTAGCATATGGCTGATTATGAGAGAAAGAAGCAATACTAATTCAGGTGGCCTGACAAGCAAGCCAGAAGTGCCTGTGGAAAAGTCATGCACTCCTGTAAGATTCTGGACCCTATGCTCCTTTGATGTAATGGAAAGTTAGGTCATAAAGGATTAACTGGGTATCACAAAAGTAAAAGGTGGGATAGAATTCTTGGAAGAGCACCCAAAGCATTACTTACTCTAAATCAGTTGTTTTCAGATCATGGTCTGAAGAATCCTAGCAGGAGAGGGAGATCCTTTAGGAGTGACAGGGATGGAAGTGAGGAGAGGGGCACAGAAAGTACCTTTTGGGGTCCCCCGAGCCCTTTTTCTCTTTGTAGTTGGAGCAGCTTTGCTGGGCTCTGCTTTACATTTAGGGCTTCTGAATAATATTTCGTTGAAGAAAAATATTCTGTAGGCAAAAAAAAAAAAAAAAAATTAGCAACCCATTCCTGTGGCTCTTGGGAACAATGTCTAAAACCTAAAAGACCTTTTATATCTTAATGAGCCTGTGATGAGTGTTGCTTTGAGTCCCATCTAGTGGGTGGCATTTTTTGGCCAACTCTTCTTGATTGCATTGTGGGGCAGTCATAAATCCCAAATCACTTCTGCCTGTCTCCTTTCAGCTGAAAACAATGCGGCAGGAAGATTACATGAAGACGATAGCCGACCTTGAGTTACATTACCAAGAGTTCATCAGAAATAGCCAAGGCTCAGAGATGTTTGGAGATGATGACAAGCGGAAAATACAGTCTCAGTTCACCGATGCCCAGAAGCATTACCAGACCCTGGTCATTCAGCTCCCTGGCTATCCCCAGCACCAGACAGGTCGGCTTGGGACATCTTTCTCTTTGTATCAACCATCCATACCATTTTAAAAAGAAGGGAGTTTGCATAAAACTGGTTTCAGAACCATTTCTCTGAATGCTATATAGCCAGTGTTCTTCGTGCACTAAATTTTCAGAATTGATTCTGAAATTCAAAGGAAGAAGGTATACTTTTAGGTAGTATGGATGTTTTTTGAGGCCTAGCACCTTGATACCTAGGTATTCTCTGATTTTTGTGGCCCTAACTTCTTTTTACAGTGACCACAACTGAAATCACTCATCATGGAACCTGCCAAGATGTCAACCATAATAAAGTAATTGAAACCAACAGAGAAAATGACAAGCAAGAAACATGGATGCTGATGGAGCTGCAGAAGATTCGCAGGCAGATAGAGCACTGCGAGGGCAGGATGACTCTCAAAAACCTCCCTCTAGCAGACCAGGGATCTTCTCACCACATCACAGTGAAAATTAACGAGCTTAAGGTAGGTATCTGCTAGTATTTTGCCTGGTTACCCTGTATATTTTTATTTACCTGTAAATGAATAAAAAAAATCCTGGTTTAAATGTTTGTAGGCAAAAATATTAACTTTCAAGAAAACAGGCTTCTGGCAGGATTTCCTTATGTATTATGTTTCCAAATTTGTAGACGGTTATCAGGCTGGGGGTTAAACTGTTCGTTTGTGTGTTGTTGAATCAGGCTACCGTCCATCTCAAAAGTTTTCACAACCATTAATTTGGCTTCTTGCAGAGAACAACCTATGATATGGGTTAGACAGGGGGAATGATCTTTATTTGTAGACATGACACTGACATGAAGAGATTTGGTTGGTGAGATACGATCTCAAAGCCATAGACAGAGTGTGACTATGGCCCAGGTGTGTCAGCTCCTAACTCAGTGATGTTTTCTGCTCAACCAAGCCTGGGCACACTGCACTGGAAGGCCTAAATAGAGATATTCTAAGAGGATCACATTTACAGTGCTAATGAGGCCATACTCAAGAAAGAAATAGAAGG
Task1_train_9995
Here’s a variant in DSP (desmoplakin) located on Chromosome 6. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
TGTACAGCTGAAGCCTCGTAACCCAGACTACAGAAGCAATAAACCCATTATTCTCAGAGCTCTCTGTGACTACAAACAAGATCAGGTGTGTACTCATTTAGAATGATACAAAAGTTTTCCCTGTCTTTACACACAAATTTTTGTCCATCAAGAAAGCAACATTTAATCTAGAGTTCAATAATCACCACAGTCAATGTCTTTGATCTATGAAATCAGCAGCTATGGAACAAAAGCAGCAGCTCTGTTCTGAATCATATGGTAGTTGTCAATAACAAGGACAGTAGTTATTTTTAGAACTTTTAAAAATTCGCAAGGCTTAATACTTTTCTTCTAGTATGTCAAAGTTGTCTGTGATCACTCTCATCTTTAAATTTCTGATAAAAGAAATGAGAAATGATGCTTTTATGTTGCATATAAAGTGAATGTCTCTCACTATGGGTGACACAGTGAGACCAAATAAATAAATAAAATGTAGCTCACTTCATGTATACCTTTTAGGCTCACATGTATTATTTAAAGCATCGGTATTGTTGGGTTGTATGATGATCAGCTTCATTTGAGGGGAAAAACGTAAAAGCTTTAATAATTCGCATGTGTTCATCTCTGTTTCCATCATTGAGAAAAAAAATAAAAACACATACTTATGAATAAAGCCAAACCCTGGGGTTGCTTGCCTTACAGAAAATCGTGCATAAGGGGGATGAGTGTATCCTGAAGGACAACAACGAGCGCAGCAAGTGGTACGTGACGGGCCCGGGAGGCGTTGACATGCTTGTTCCCTCTGTGGGGCTGATCATCCCTCCTCCGAACCCACTGGCCGTGGACCTCTCTTGCAAGTAAGTCATCCAAGTTCCCAAAGCCACGCATGCACGCATGAATGTGAGGGCAGAGGAAGAGGGCAGGTGTTTATACCTGAAGCTTAGACACACGATGCCTTGCCATAATAAACACCTTCTAAAAAAAGGAACCTTGTGAAGGTCACCTTCACTTTGTCTTGCAATTTTATGTTGAATAGACAGTCGTTATTGAAGAATAAAAGGGAATATCTGGCCGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTGGGGAGACCGAGGTGGGCGGATCACCTGAGGTTAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACTCTGTCTCTACTAAAAATATAAAATTAGCCAGGTGTGGTGGTACATGCCTGTAATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATTGCTTGAACCTGGGAGGGGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACGAGAGCAAAACTCCATCTCAAAAAAAAAAAAGGAATGTCTGACTGTAGTGGGGCCAGAGTGAATAATACTTGTCATGCACTTCAAAGGCATCATTTTAAGGTTCTCCTTTTCTTAGAAAATCAGTTGTTATACATGTAGCTACAAATATAAAATGCCTTTAATATCAATATTCACTCATTGTAGGAAGAACATTCGTTTAACAGGTTGTCCATGGCAGATTCCTTTAAACCATTTAGTATCGAAATCTTCAACCACACACTGAATAGGGAGAGTAGTGTAGTAAGCTGCTGTGTGCTCATGACCAAGCTTTGGGTCATTGGCATCTAATGCACCTGCCATCCTGCCTTAGACCTCTGTCAATTACAAAGTTGCCGAAAAACAAGACAACAACAAAAAGTTGTAGTATATATGTCAGCCAATAATGTAGATAATTCAGAATGTACTTTTGGGGAGTAAATGAATCCAAATCCATGAACTGTTTTCAAAGTTATACCTCTACCTGTTACTTTATCAGTGACTGTTGTAGGTTTTTGTGCAGTGGTGTGAGCGTGTCCAGGTTTCCCATTTGGGATGAAGTGTGAAAGCCTGGCTCTAGCATGTTTTCCCTTTGTGCCTCTTAGGATTGAGCAGTACTACGAAGCCATCTTGGCTCTGTGGAACCAGCTCTACATCAACATGAAGAGCCTGGTGTCCTGGCACTACTGCATGATTGACATAGAGAAGATCAGGGCCATGACAATCGCCAAGGTATGTCCTCAGGGCCACTTAGGCTGCCTGGAGGGAGGGCAGCGCTGCCCCCCGCAGTGCCTGTGTCCAACAGTTCAACCTTCTTGCTGTGTAGCAGTGCTTTTGTGTCTCGTCAAGCAAGTCAGCTCAGCCCTCCTTAGAGGTTCTGGTCTGTCCAATAGAGAACAGGAGGGATTAGCATATGGCTGATTATGAGAGAAAGAAGCAATACTAATTCAGGTGGCCTGACAAGCAAGCCAGAAGTGCCTGTGGAAAAGTCATGCACTCCTGTAAGATTCTGGACCCTATGCTCCTTTGATGTAATGGAAAGTTAGGTCATAAAGGATTAACTGGGTATCACAAAAGTAAAAGGTGGGATAGAATTCTTGGAAGAGCACCCAAAGCATTACTTACTCTAAATCAGTTGTTTTCAGATCATGGTCTGAAGAATCCTAGCAGGAGAGGGAGATCCTTTAGGAGTGACAGGGATGGAAGTGAGGAGAGGGGCACAGAAAGTACCTTTTGGGGTCCCCCGAGCCCTTTTTCTCTTTGTAGTTGGAGCAGCTTTGCTGGGCTCTGCTTTACATTTAGGGCTTCTGAATAATATTTCGTTGAAGAAAAATATTCTGTAGGCAAAAAAAAAAAAAAAAAATTAGCAACCCATTCCTGTGGCTCTTGGGAACAATGTCTAAAACCTAAAAGACCTTTTATATCTTAATGAGCCTGTGATGAGTGTTGCTTTGAGTCCCATCTAGTGGGTGGCATTTTTTGGCCAACTCTTCTTGATTGCATTGTGGGGCAGTCATAAATCCCAAATCACTTCTGCCTGTCTCCTTTCAGCTGAAAACAATGCGGCAGGAAGATTACATGAAGACGATAGCCGACCTTGAGTTACATTACCAAGAGTTCATCAGAAATAGCCAAGGCTCAGAGATGTTTGGAGATGATGACAAGCGGAAAATACAGTCTCAGTTCACCGATGCCCAGAAGCATTACCAGACCCTGGTCATTCAGCTCCCTGGCTATCCCCAGCACCAGACAGGTCGGCTTGGGACATCTTTCTCTTTGTATCAACCATCCATACCATTTTAAAAAGAAGGGAGTTTGCATAAAACTGGTTTCAGAACCATTTCTCTGAATGCTATATAGCCAGTGTTCTTCGTGCACTAAATTTTCAGAATTGATTCTGAAATTCAAAGGAAGAAGGTATACTTTTAGGTAGTATGGATGTTTTTTGAGGCCTAGCACCTTGATACCTAGGTATTCTCTGATTTTTGTGGCCCTAACTTCTTTTTACAGTGACCACAACTGAAATCACTCATCATGGAACCTGCCAAGATGTCAACCATAATAAAGTAATTGAAACCAACAGAGAAAATGACAAGCAAGAAACATGGATGCTGATGGAGCTGCAGAAGATTCGCAGGCAGATAGAGCACTGCGAGGGCAGGATGACTCTCAAAAACCTCCCTCTAGCAGACCAGGGATCTTCTCACCACATCACAGTGAAAATTAACGAGCTTAAGGTAGGTATCTGCTAGTATTTTGCCTGGTTACCCTGTATATTTTTATTTACCTGTAAATGAATAAAAAAAATCCTGGTTTAAATGTTTGTAGGCAAAAATATTAACTTTCAAGAAAACAGGCTTCTGGCAGGATTTCCTTATGTATTATGTTTCCAAATTTGTAGACGGTTATCAGGCTGGGGGTTAAACTGTTCGTTTGTGTGTTGTTGAATCAGGCTACCGTCCATCTCAAAAGTTTTCACAACCATTAATTTGGCTTCTTGCAGAGAACAACCTATGATATGGGTTAGACAGGGGGAATGATCTTTATTTGTAGACATGACACTGACATGAAGAGATTTGGTTGGTGAGATACGATCTCAAAGCCATAGACAGAGTGTGACTATGGCCCAGGTGTGTCAGCTCCTAACTCAGTGATGTTTTCTGCTCAACCAAGCCTGGGCACACTGCACTGGAAGGCCTAAATAGAGATATTCTAAGAGGATCACATTTACAGTGCTAATGAGGCCATACTCAAGAAAGAAATAGAAGG
TGTACAGCTGAAGCCTCGTAACCCAGACTACAGAAGCAATAAACCCATTATTCTCAGAGCTCTCTGTGACTACAAACAAGATCAGGTGTGTACTCATTTAGAATGATACAAAAGTTTTCCCTGTCTTTACACACAAATTTTTGTCCATCAAGAAAGCAACATTTAATCTAGAGTTCAATAATCACCACAGTCAATGTCTTTGATCTATGAAATCAGCAGCTATGGAACAAAAGCAGCAGCTCTGTTCTGAATCATATGGTAGTTGTCAATAACAAGGACAGTAGTTATTTTTAGAACTTTTAAAAATTCGCAAGGCTTAATACTTTTCTTCTAGTATGTCAAAGTTGTCTGTGATCACTCTCATCTTTAAATTTCTGATAAAAGAAATGAGAAATGATGCTTTTATGTTGCATATAAAGTGAATGTCTCTCACTATGGGTGACACAGTGAGACCAAATAAATAAATAAAATGTAGCTCACTTCATGTATACCTTTTAGGCTCACATGTATTATTTAAAGCATCGGTATTGTTGGGTTGTATGATGATCAGCTTCATTTGAGGGGAAAAACGTAAAAGCTTTAATAATTCGCATGTGTTCATCTCTGTTTCCATCATTGAGAAAAAAAATAAAAACACATACTTATGAATAAAGCCAAACCCTGGGGTTGCTTGCCTTACAGAAAATCGTGCATAAGGGGGATGAGTGTATCCTGAAGGACAACAACGAGCGCAGCAAGTGGTACGTGACGGGCCCGGGAGGCGTTGACATGCTTGTTCCCTCTGTGGGGCTGATCATCCCTCCTCCGAACCCACTGGCCGTGGACCTCTCTTGCAAGTAAGTCATCCAAGTTCCCAAAGCCACGCATGCACGCATGAATGTGAGGGCAGAGGAAGAGGGCAGGTGTTTATACCTGAAGCTTAGACACACGATGCCTTGCCATAATAAACACCTTCTAAAAAAAGGAACCTTGTGAAGGTCACCTTCACTTTGTCTTGCAATTTTATGTTGAATAGACAGTCGTTATTGAAGAATAAAAGGGAATATCTGGCCGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTGGGGAGACCGAGGTGGGCGGATCACCTGAGGTTAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACTCTGTCTCTACTAAAAATATAAAATTAGCCAGGTGTGGTGGTACATGCCTGTAATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATTGCTTGAACCTGGGAGGGGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACGAGAGCAAAACTCCATCTCAAAAAAAAAAAAGGAATGTCTGACTGTAGTGGGGCCAGAGTGAATAATACTTGTCATGCACTTCAAAGGCATCATTTTAAGGTTCTCCTTTTCTTAGAAAATCAGTTGTTATACATGTAGCTACAAATATAAAATGCCTTTAATATCAATATTCACTCATTGTAGGAAGAACATTCGTTTAACAGGTTGTCCATGGCAGATTCCTTTAAACCATTTAGTATCGAAATCTTCAACCACACACTGAATAGGGAGAGTAGTGTAGTAAGCTGCTGTGTGCTCATGACCAAGCTTTGGGTCATTGGCATCTAATGCACCTGCCATCCTGCCTTAGACCTCTGTCAATTACAAAGTTGCCGAAAAACAAGACAACAACAAAAAGTTGTAGTATATATGTCAGCCAATAATGTAGATAATTCAGAATGTACTTTTGGGGAGTAAATGAATCCAAATCCATGAACTGTTTTCAAAGTTATACCTCTACCTGTTACTTTATCAGTGACTGTTGTAGGTTTTTGTGCAGTGGTGTGAGCGTGTCCAGGTTTCCCATTTGGGATGAAGTGTGAAAGCCTGGCTCTAGCATGTTTTCCCTTTGTGCCTCTTAGGATTGAGCAGTACTACGAAGCCATCTTGGCTCTGTGGAACCAGCTCTACATCAACATGAAGAGCCTGGTGTCCTGGCACTACTGCATGATTGACATAGAGAAGATCAGGGCCATGATAATCGCCAAGGTATGTCCTCAGGGCCACTTAGGCTGCCTGGAGGGAGGGCAGCGCTGCCCCCCGCAGTGCCTGTGTCCAACAGTTCAACCTTCTTGCTGTGTAGCAGTGCTTTTGTGTCTCGTCAAGCAAGTCAGCTCAGCCCTCCTTAGAGGTTCTGGTCTGTCCAATAGAGAACAGGAGGGATTAGCATATGGCTGATTATGAGAGAAAGAAGCAATACTAATTCAGGTGGCCTGACAAGCAAGCCAGAAGTGCCTGTGGAAAAGTCATGCACTCCTGTAAGATTCTGGACCCTATGCTCCTTTGATGTAATGGAAAGTTAGGTCATAAAGGATTAACTGGGTATCACAAAAGTAAAAGGTGGGATAGAATTCTTGGAAGAGCACCCAAAGCATTACTTACTCTAAATCAGTTGTTTTCAGATCATGGTCTGAAGAATCCTAGCAGGAGAGGGAGATCCTTTAGGAGTGACAGGGATGGAAGTGAGGAGAGGGGCACAGAAAGTACCTTTTGGGGTCCCCCGAGCCCTTTTTCTCTTTGTAGTTGGAGCAGCTTTGCTGGGCTCTGCTTTACATTTAGGGCTTCTGAATAATATTTCGTTGAAGAAAAATATTCTGTAGGCAAAAAAAAAAAAAAAAAATTAGCAACCCATTCCTGTGGCTCTTGGGAACAATGTCTAAAACCTAAAAGACCTTTTATATCTTAATGAGCCTGTGATGAGTGTTGCTTTGAGTCCCATCTAGTGGGTGGCATTTTTTGGCCAACTCTTCTTGATTGCATTGTGGGGCAGTCATAAATCCCAAATCACTTCTGCCTGTCTCCTTTCAGCTGAAAACAATGCGGCAGGAAGATTACATGAAGACGATAGCCGACCTTGAGTTACATTACCAAGAGTTCATCAGAAATAGCCAAGGCTCAGAGATGTTTGGAGATGATGACAAGCGGAAAATACAGTCTCAGTTCACCGATGCCCAGAAGCATTACCAGACCCTGGTCATTCAGCTCCCTGGCTATCCCCAGCACCAGACAGGTCGGCTTGGGACATCTTTCTCTTTGTATCAACCATCCATACCATTTTAAAAAGAAGGGAGTTTGCATAAAACTGGTTTCAGAACCATTTCTCTGAATGCTATATAGCCAGTGTTCTTCGTGCACTAAATTTTCAGAATTGATTCTGAAATTCAAAGGAAGAAGGTATACTTTTAGGTAGTATGGATGTTTTTTGAGGCCTAGCACCTTGATACCTAGGTATTCTCTGATTTTTGTGGCCCTAACTTCTTTTTACAGTGACCACAACTGAAATCACTCATCATGGAACCTGCCAAGATGTCAACCATAATAAAGTAATTGAAACCAACAGAGAAAATGACAAGCAAGAAACATGGATGCTGATGGAGCTGCAGAAGATTCGCAGGCAGATAGAGCACTGCGAGGGCAGGATGACTCTCAAAAACCTCCCTCTAGCAGACCAGGGATCTTCTCACCACATCACAGTGAAAATTAACGAGCTTAAGGTAGGTATCTGCTAGTATTTTGCCTGGTTACCCTGTATATTTTTATTTACCTGTAAATGAATAAAAAAAATCCTGGTTTAAATGTTTGTAGGCAAAAATATTAACTTTCAAGAAAACAGGCTTCTGGCAGGATTTCCTTATGTATTATGTTTCCAAATTTGTAGACGGTTATCAGGCTGGGGGTTAAACTGTTCGTTTGTGTGTTGTTGAATCAGGCTACCGTCCATCTCAAAAGTTTTCACAACCATTAATTTGGCTTCTTGCAGAGAACAACCTATGATATGGGTTAGACAGGGGGAATGATCTTTATTTGTAGACATGACACTGACATGAAGAGATTTGGTTGGTGAGATACGATCTCAAAGCCATAGACAGAGTGTGACTATGGCCCAGGTGTGTCAGCTCCTAACTCAGTGATGTTTTCTGCTCAACCAAGCCTGGGCACACTGCACTGGAAGGCCTAAATAGAGATATTCTAAGAGGATCACATTTACAGTGCTAATGAGGCCATACTCAAGAAAGAAATAGAAGG
Task1_train_9996
A variant was discovered on Chromosome 6, affecting DSP (desmoplakin). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
AGGTCACCTTCACTTTGTCTTGCAATTTTATGTTGAATAGACAGTCGTTATTGAAGAATAAAAGGGAATATCTGGCCGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTGGGGAGACCGAGGTGGGCGGATCACCTGAGGTTAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACTCTGTCTCTACTAAAAATATAAAATTAGCCAGGTGTGGTGGTACATGCCTGTAATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATTGCTTGAACCTGGGAGGGGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACGAGAGCAAAACTCCATCTCAAAAAAAAAAAAGGAATGTCTGACTGTAGTGGGGCCAGAGTGAATAATACTTGTCATGCACTTCAAAGGCATCATTTTAAGGTTCTCCTTTTCTTAGAAAATCAGTTGTTATACATGTAGCTACAAATATAAAATGCCTTTAATATCAATATTCACTCATTGTAGGAAGAACATTCGTTTAACAGGTTGTCCATGGCAGATTCCTTTAAACCATTTAGTATCGAAATCTTCAACCACACACTGAATAGGGAGAGTAGTGTAGTAAGCTGCTGTGTGCTCATGACCAAGCTTTGGGTCATTGGCATCTAATGCACCTGCCATCCTGCCTTAGACCTCTGTCAATTACAAAGTTGCCGAAAAACAAGACAACAACAAAAAGTTGTAGTATATATGTCAGCCAATAATGTAGATAATTCAGAATGTACTTTTGGGGAGTAAATGAATCCAAATCCATGAACTGTTTTCAAAGTTATACCTCTACCTGTTACTTTATCAGTGACTGTTGTAGGTTTTTGTGCAGTGGTGTGAGCGTGTCCAGGTTTCCCATTTGGGATGAAGTGTGAAAGCCTGGCTCTAGCATGTTTTCCCTTTGTGCCTCTTAGGATTGAGCAGTACTACGAAGCCATCTTGGCTCTGTGGAACCAGCTCTACATCAACATGAAGAGCCTGGTGTCCTGGCACTACTGCATGATTGACATAGAGAAGATCAGGGCCATGACAATCGCCAAGGTATGTCCTCAGGGCCACTTAGGCTGCCTGGAGGGAGGGCAGCGCTGCCCCCCGCAGTGCCTGTGTCCAACAGTTCAACCTTCTTGCTGTGTAGCAGTGCTTTTGTGTCTCGTCAAGCAAGTCAGCTCAGCCCTCCTTAGAGGTTCTGGTCTGTCCAATAGAGAACAGGAGGGATTAGCATATGGCTGATTATGAGAGAAAGAAGCAATACTAATTCAGGTGGCCTGACAAGCAAGCCAGAAGTGCCTGTGGAAAAGTCATGCACTCCTGTAAGATTCTGGACCCTATGCTCCTTTGATGTAATGGAAAGTTAGGTCATAAAGGATTAACTGGGTATCACAAAAGTAAAAGGTGGGATAGAATTCTTGGAAGAGCACCCAAAGCATTACTTACTCTAAATCAGTTGTTTTCAGATCATGGTCTGAAGAATCCTAGCAGGAGAGGGAGATCCTTTAGGAGTGACAGGGATGGAAGTGAGGAGAGGGGCACAGAAAGTACCTTTTGGGGTCCCCCGAGCCCTTTTTCTCTTTGTAGTTGGAGCAGCTTTGCTGGGCTCTGCTTTACATTTAGGGCTTCTGAATAATATTTCGTTGAAGAAAAATATTCTGTAGGCAAAAAAAAAAAAAAAAAATTAGCAACCCATTCCTGTGGCTCTTGGGAACAATGTCTAAAACCTAAAAGACCTTTTATATCTTAATGAGCCTGTGATGAGTGTTGCTTTGAGTCCCATCTAGTGGGTGGCATTTTTTGGCCAACTCTTCTTGATTGCATTGTGGGGCAGTCATAAATCCCAAATCACTTCTGCCTGTCTCCTTTCAGCTGAAAACAATGCGGCAGGAAGATTACATGAAGACGATAGCCGACCTTGAGTTACATTACCAAGAGTTCATCAGAAATAGCCAAGGCTCAGAGATGTTTGGAGATGATGACAAGCGGAAAATACAGTCTCAGTTCACCGATGCCCAGAAGCATTACCAGACCCTGGTCATTCAGCTCCCTGGCTATCCCCAGCACCAGACAGGTCGGCTTGGGACATCTTTCTCTTTGTATCAACCATCCATACCATTTTAAAAAGAAGGGAGTTTGCATAAAACTGGTTTCAGAACCATTTCTCTGAATGCTATATAGCCAGTGTTCTTCGTGCACTAAATTTTCAGAATTGATTCTGAAATTCAAAGGAAGAAGGTATACTTTTAGGTAGTATGGATGTTTTTTGAGGCCTAGCACCTTGATACCTAGGTATTCTCTGATTTTTGTGGCCCTAACTTCTTTTTACAGTGACCACAACTGAAATCACTCATCATGGAACCTGCCAAGATGTCAACCATAATAAAGTAATTGAAACCAACAGAGAAAATGACAAGCAAGAAACATGGATGCTGATGGAGCTGCAGAAGATTCGCAGGCAGATAGAGCACTGCGAGGGCAGGATGACTCTCAAAAACCTCCCTCTAGCAGACCAGGGATCTTCTCACCACATCACAGTGAAAATTAACGAGCTTAAGGTAGGTATCTGCTAGTATTTTGCCTGGTTACCCTGTATATTTTTATTTACCTGTAAATGAATAAAAAAAATCCTGGTTTAAATGTTTGTAGGCAAAAATATTAACTTTCAAGAAAACAGGCTTCTGGCAGGATTTCCTTATGTATTATGTTTCCAAATTTGTAGACGGTTATCAGGCTGGGGGTTAAACTGTTCGTTTGTGTGTTGTTGAATCAGGCTACCGTCCATCTCAAAAGTTTTCACAACCATTAATTTGGCTTCTTGCAGAGAACAACCTATGATATGGGTTAGACAGGGGGAATGATCTTTATTTGTAGACATGACACTGACATGAAGAGATTTGGTTGGTGAGATACGATCTCAAAGCCATAGACAGAGTGTGACTATGGCCCAGGTGTGTCAGCTCCTAACTCAGTGATGTTTTCTGCTCAACCAAGCCTGGGCACACTGCACTGGAAGGCCTAAATAGAGATATTCTAAGAGGATCACATTTACAGTGCTAATGAGGCCATACTCAAGAAAGAAATAGAAGGTCAACTCCTCTCTCTTCCTTGAATCCTTTACTTTTAGTGGACTTTTTAAGGGCAAAAATGATCATAAGATTCACACAGCTACAATGCAGAGTACTAACCTCTGTGTGATCAGTATGCCAAAATTGGAATGTAGTTGTGTTGCTTAATGACCGGGGCACATTCTAAGAAATGCATGGTTAGGCGATTTTGTCATGCAAGCGCCATAGAGCATACTTACACAAACCTAGATGGTATAGCCTACTATACACCTAGGCTACAAACCTGTAGGGCATGTGACTGTCCTAAATACTGTAGGCAATTGTGACACAATGGTAAGTGTGTATCTAAATATATCTAAACGTCGAAAAGATACAATAAAAATACAGTATTATAATCTTACGGGGGCTGGATGCAGGGGCACATGCCTGTAATCCCAGCTACTTGCTTGAGCTCAGGAGTTGGAGGCTGCAGGGAGCTATGATTGTACCACTGTACTCCAGTCTGGGCAACAGAGCAAGACCCTTCTCTTTAAAAAAAAATGTGTGTGTGTGTGTGTGTGTTTATATGTATGTATGTACATATGTGTGTGTGTATATATCTTAAGGGACCACCATTGTGTATACAGTTCATCATTGACCAAAACATCATTAGTAGACACATGACTATACACACACACAGTGGGGTACTATTTACCTTTAAAAAAGAAAGAGATCCTGGGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGTTCAAGACCAGCATGACCAACATGGTGAAACCCCATCTCTACTAAAAAGTACAAAAATTAGCTGGGTGTGGTGGCGTGCGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTC
AGGTCACCTTCACTTTGTCTTGCAATTTTATGTTGAATAGACAGTCGTTATTGAAGAATAAAAGGGAATATCTGGCCGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTGGGGAGACCGAGGTGGGCGGATCACCTGAGGTTAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACTCTGTCTCTACTAAAAATATAAAATTAGCCAGGTGTGGTGGTACATGCCTGTAATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATTGCTTGAACCTGGGAGGGGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACGAGAGCAAAACTCCATCTCAAAAAAAAAAAAGGAATGTCTGACTGTAGTGGGGCCAGAGTGAATAATACTTGTCATGCACTTCAAAGGCATCATTTTAAGGTTCTCCTTTTCTTAGAAAATCAGTTGTTATACATGTAGCTACAAATATAAAATGCCTTTAATATCAATATTCACTCATTGTAGGAAGAACATTCGTTTAACAGGTTGTCCATGGCAGATTCCTTTAAACCATTTAGTATCGAAATCTTCAACCACACACTGAATAGGGAGAGTAGTGTAGTAAGCTGCTGTGTGCTCATGACCAAGCTTTGGGTCATTGGCATCTAATGCACCTGCCATCCTGCCTTAGACCTCTGTCAATTACAAAGTTGCCGAAAAACAAGACAACAACAAAAAGTTGTAGTATATATGTCAGCCAATAATGTAGATAATTCAGAATGTACTTTTGGGGAGTAAATGAATCCAAATCCATGAACTGTTTTCAAAGTTATACCTCTACCTGTTACTTTATCAGTGACTGTTGTAGGTTTTTGTGCAGTGGTGTGAGCGTGTCCAGGTTTCCCATTTGGGATGAAGTGTGAAAGCCTGGCTCTAGCATGTTTTCCCTTTGTGCCTCTTAGGATTGAGCAGTACTACGAAGCCATCTTGGCTCTGTGGAACCAGCTCTACATCAACATGAAGAGCCTGGTGTCCTGGCACTACTGCATGATTGACATAGAGAAGATCAGGGCCATGACAATCGCCAAGGTATGTCCTCAGGGCCACTTAGGCTGCCTGGAGGGAGGGCAGCGCTGCCCCCCGCAGTGCCTGTGTCCAACAGTTCAACCTTCTTGCTGTGTAGCAGTGCTTTTGTGTCTCGTCAAGCAAGTCAGCTCAGCCCTCCTTAGAGGTTCTGGTCTGTCCAATAGAGAACAGGAGGGATTAGCATATGGCTGATTATGAGAGAAAGAAGCAATACTAATTCAGGTGGCCTGACAAGCAAGCCAGAAGTGCCTGTGGAAAAGTCATGCACTCCTGTAAGATTCTGGACCCTATGCTCCTTTGATGTAATGGAAAGTTAGGTCATAAAGGATTAACTGGGTATCACAAAAGTAAAAGGTGGGATAGAATTCTTGGAAGAGCACCCAAAGCATTACTTACTCTAAATCAGTTGTTTTCAGATCATGGTCTGAAGAATCCTAGCAGGAGAGGGAGATCCTTTAGGAGTGACAGGGATGGAAGTGAGGAGAGGGGCACAGAAAGTACCTTTTGGGGTCCCCCGAGCCCTTTTTCTCTTTGTAGTTGGAGCAGCTTTGCTGGGCTCTGCTTTACATTTAGGGCTTCTGAATAATATTTCGTTGAAGAAAAATATTCTGTAGGCAAAAAAAAAAAAAAAAAATTAGCAACCCATTCCTGTGGCTCTTGGGAACAATGTCTAAAACCTAAAAGACCTTTTATATCTTAATGAGCCTGTGATGAGTGTTGCTTTGAGTCCCATCTAGTGGGTGGCATTTTTTGGCCAACTCTTCTTGATTGCATTGTGGGGCAGTCATAAATCCCAAATCACTTCTGCCTGTCTCCTTTCAGCTGAAAACAATGCGGCAGGAAGATTACATGAAGACGATAGCCGACCTTGAGTTACATTACCAAGAGTTCATCAGAAATAGCCAAGGCTCAGAGATGTTTGGAGATGATGACAAGCGGAAAATACAGTCTCAGTTCACCGATGCCCCGAAGCATTACCAGACCCTGGTCATTCAGCTCCCTGGCTATCCCCAGCACCAGACAGGTCGGCTTGGGACATCTTTCTCTTTGTATCAACCATCCATACCATTTTAAAAAGAAGGGAGTTTGCATAAAACTGGTTTCAGAACCATTTCTCTGAATGCTATATAGCCAGTGTTCTTCGTGCACTAAATTTTCAGAATTGATTCTGAAATTCAAAGGAAGAAGGTATACTTTTAGGTAGTATGGATGTTTTTTGAGGCCTAGCACCTTGATACCTAGGTATTCTCTGATTTTTGTGGCCCTAACTTCTTTTTACAGTGACCACAACTGAAATCACTCATCATGGAACCTGCCAAGATGTCAACCATAATAAAGTAATTGAAACCAACAGAGAAAATGACAAGCAAGAAACATGGATGCTGATGGAGCTGCAGAAGATTCGCAGGCAGATAGAGCACTGCGAGGGCAGGATGACTCTCAAAAACCTCCCTCTAGCAGACCAGGGATCTTCTCACCACATCACAGTGAAAATTAACGAGCTTAAGGTAGGTATCTGCTAGTATTTTGCCTGGTTACCCTGTATATTTTTATTTACCTGTAAATGAATAAAAAAAATCCTGGTTTAAATGTTTGTAGGCAAAAATATTAACTTTCAAGAAAACAGGCTTCTGGCAGGATTTCCTTATGTATTATGTTTCCAAATTTGTAGACGGTTATCAGGCTGGGGGTTAAACTGTTCGTTTGTGTGTTGTTGAATCAGGCTACCGTCCATCTCAAAAGTTTTCACAACCATTAATTTGGCTTCTTGCAGAGAACAACCTATGATATGGGTTAGACAGGGGGAATGATCTTTATTTGTAGACATGACACTGACATGAAGAGATTTGGTTGGTGAGATACGATCTCAAAGCCATAGACAGAGTGTGACTATGGCCCAGGTGTGTCAGCTCCTAACTCAGTGATGTTTTCTGCTCAACCAAGCCTGGGCACACTGCACTGGAAGGCCTAAATAGAGATATTCTAAGAGGATCACATTTACAGTGCTAATGAGGCCATACTCAAGAAAGAAATAGAAGGTCAACTCCTCTCTCTTCCTTGAATCCTTTACTTTTAGTGGACTTTTTAAGGGCAAAAATGATCATAAGATTCACACAGCTACAATGCAGAGTACTAACCTCTGTGTGATCAGTATGCCAAAATTGGAATGTAGTTGTGTTGCTTAATGACCGGGGCACATTCTAAGAAATGCATGGTTAGGCGATTTTGTCATGCAAGCGCCATAGAGCATACTTACACAAACCTAGATGGTATAGCCTACTATACACCTAGGCTACAAACCTGTAGGGCATGTGACTGTCCTAAATACTGTAGGCAATTGTGACACAATGGTAAGTGTGTATCTAAATATATCTAAACGTCGAAAAGATACAATAAAAATACAGTATTATAATCTTACGGGGGCTGGATGCAGGGGCACATGCCTGTAATCCCAGCTACTTGCTTGAGCTCAGGAGTTGGAGGCTGCAGGGAGCTATGATTGTACCACTGTACTCCAGTCTGGGCAACAGAGCAAGACCCTTCTCTTTAAAAAAAAATGTGTGTGTGTGTGTGTGTGTTTATATGTATGTATGTACATATGTGTGTGTGTATATATCTTAAGGGACCACCATTGTGTATACAGTTCATCATTGACCAAAACATCATTAGTAGACACATGACTATACACACACACAGTGGGGTACTATTTACCTTTAAAAAAGAAAGAGATCCTGGGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGTTCAAGACCAGCATGACCAACATGGTGAAACCCCATCTCTACTAAAAAGTACAAAAATTAGCTGGGTGTGGTGGCGTGCGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTC
Task1_train_9997
Gene DSP (desmoplakin) on Chromosome 6 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
CCTTCACTTTGTCTTGCAATTTTATGTTGAATAGACAGTCGTTATTGAAGAATAAAAGGGAATATCTGGCCGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTGGGGAGACCGAGGTGGGCGGATCACCTGAGGTTAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACTCTGTCTCTACTAAAAATATAAAATTAGCCAGGTGTGGTGGTACATGCCTGTAATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATTGCTTGAACCTGGGAGGGGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACGAGAGCAAAACTCCATCTCAAAAAAAAAAAAGGAATGTCTGACTGTAGTGGGGCCAGAGTGAATAATACTTGTCATGCACTTCAAAGGCATCATTTTAAGGTTCTCCTTTTCTTAGAAAATCAGTTGTTATACATGTAGCTACAAATATAAAATGCCTTTAATATCAATATTCACTCATTGTAGGAAGAACATTCGTTTAACAGGTTGTCCATGGCAGATTCCTTTAAACCATTTAGTATCGAAATCTTCAACCACACACTGAATAGGGAGAGTAGTGTAGTAAGCTGCTGTGTGCTCATGACCAAGCTTTGGGTCATTGGCATCTAATGCACCTGCCATCCTGCCTTAGACCTCTGTCAATTACAAAGTTGCCGAAAAACAAGACAACAACAAAAAGTTGTAGTATATATGTCAGCCAATAATGTAGATAATTCAGAATGTACTTTTGGGGAGTAAATGAATCCAAATCCATGAACTGTTTTCAAAGTTATACCTCTACCTGTTACTTTATCAGTGACTGTTGTAGGTTTTTGTGCAGTGGTGTGAGCGTGTCCAGGTTTCCCATTTGGGATGAAGTGTGAAAGCCTGGCTCTAGCATGTTTTCCCTTTGTGCCTCTTAGGATTGAGCAGTACTACGAAGCCATCTTGGCTCTGTGGAACCAGCTCTACATCAACATGAAGAGCCTGGTGTCCTGGCACTACTGCATGATTGACATAGAGAAGATCAGGGCCATGACAATCGCCAAGGTATGTCCTCAGGGCCACTTAGGCTGCCTGGAGGGAGGGCAGCGCTGCCCCCCGCAGTGCCTGTGTCCAACAGTTCAACCTTCTTGCTGTGTAGCAGTGCTTTTGTGTCTCGTCAAGCAAGTCAGCTCAGCCCTCCTTAGAGGTTCTGGTCTGTCCAATAGAGAACAGGAGGGATTAGCATATGGCTGATTATGAGAGAAAGAAGCAATACTAATTCAGGTGGCCTGACAAGCAAGCCAGAAGTGCCTGTGGAAAAGTCATGCACTCCTGTAAGATTCTGGACCCTATGCTCCTTTGATGTAATGGAAAGTTAGGTCATAAAGGATTAACTGGGTATCACAAAAGTAAAAGGTGGGATAGAATTCTTGGAAGAGCACCCAAAGCATTACTTACTCTAAATCAGTTGTTTTCAGATCATGGTCTGAAGAATCCTAGCAGGAGAGGGAGATCCTTTAGGAGTGACAGGGATGGAAGTGAGGAGAGGGGCACAGAAAGTACCTTTTGGGGTCCCCCGAGCCCTTTTTCTCTTTGTAGTTGGAGCAGCTTTGCTGGGCTCTGCTTTACATTTAGGGCTTCTGAATAATATTTCGTTGAAGAAAAATATTCTGTAGGCAAAAAAAAAAAAAAAAAATTAGCAACCCATTCCTGTGGCTCTTGGGAACAATGTCTAAAACCTAAAAGACCTTTTATATCTTAATGAGCCTGTGATGAGTGTTGCTTTGAGTCCCATCTAGTGGGTGGCATTTTTTGGCCAACTCTTCTTGATTGCATTGTGGGGCAGTCATAAATCCCAAATCACTTCTGCCTGTCTCCTTTCAGCTGAAAACAATGCGGCAGGAAGATTACATGAAGACGATAGCCGACCTTGAGTTACATTACCAAGAGTTCATCAGAAATAGCCAAGGCTCAGAGATGTTTGGAGATGATGACAAGCGGAAAATACAGTCTCAGTTCACCGATGCCCAGAAGCATTACCAGACCCTGGTCATTCAGCTCCCTGGCTATCCCCAGCACCAGACAGGTCGGCTTGGGACATCTTTCTCTTTGTATCAACCATCCATACCATTTTAAAAAGAAGGGAGTTTGCATAAAACTGGTTTCAGAACCATTTCTCTGAATGCTATATAGCCAGTGTTCTTCGTGCACTAAATTTTCAGAATTGATTCTGAAATTCAAAGGAAGAAGGTATACTTTTAGGTAGTATGGATGTTTTTTGAGGCCTAGCACCTTGATACCTAGGTATTCTCTGATTTTTGTGGCCCTAACTTCTTTTTACAGTGACCACAACTGAAATCACTCATCATGGAACCTGCCAAGATGTCAACCATAATAAAGTAATTGAAACCAACAGAGAAAATGACAAGCAAGAAACATGGATGCTGATGGAGCTGCAGAAGATTCGCAGGCAGATAGAGCACTGCGAGGGCAGGATGACTCTCAAAAACCTCCCTCTAGCAGACCAGGGATCTTCTCACCACATCACAGTGAAAATTAACGAGCTTAAGGTAGGTATCTGCTAGTATTTTGCCTGGTTACCCTGTATATTTTTATTTACCTGTAAATGAATAAAAAAAATCCTGGTTTAAATGTTTGTAGGCAAAAATATTAACTTTCAAGAAAACAGGCTTCTGGCAGGATTTCCTTATGTATTATGTTTCCAAATTTGTAGACGGTTATCAGGCTGGGGGTTAAACTGTTCGTTTGTGTGTTGTTGAATCAGGCTACCGTCCATCTCAAAAGTTTTCACAACCATTAATTTGGCTTCTTGCAGAGAACAACCTATGATATGGGTTAGACAGGGGGAATGATCTTTATTTGTAGACATGACACTGACATGAAGAGATTTGGTTGGTGAGATACGATCTCAAAGCCATAGACAGAGTGTGACTATGGCCCAGGTGTGTCAGCTCCTAACTCAGTGATGTTTTCTGCTCAACCAAGCCTGGGCACACTGCACTGGAAGGCCTAAATAGAGATATTCTAAGAGGATCACATTTACAGTGCTAATGAGGCCATACTCAAGAAAGAAATAGAAGGTCAACTCCTCTCTCTTCCTTGAATCCTTTACTTTTAGTGGACTTTTTAAGGGCAAAAATGATCATAAGATTCACACAGCTACAATGCAGAGTACTAACCTCTGTGTGATCAGTATGCCAAAATTGGAATGTAGTTGTGTTGCTTAATGACCGGGGCACATTCTAAGAAATGCATGGTTAGGCGATTTTGTCATGCAAGCGCCATAGAGCATACTTACACAAACCTAGATGGTATAGCCTACTATACACCTAGGCTACAAACCTGTAGGGCATGTGACTGTCCTAAATACTGTAGGCAATTGTGACACAATGGTAAGTGTGTATCTAAATATATCTAAACGTCGAAAAGATACAATAAAAATACAGTATTATAATCTTACGGGGGCTGGATGCAGGGGCACATGCCTGTAATCCCAGCTACTTGCTTGAGCTCAGGAGTTGGAGGCTGCAGGGAGCTATGATTGTACCACTGTACTCCAGTCTGGGCAACAGAGCAAGACCCTTCTCTTTAAAAAAAAATGTGTGTGTGTGTGTGTGTGTTTATATGTATGTATGTACATATGTGTGTGTGTATATATCTTAAGGGACCACCATTGTGTATACAGTTCATCATTGACCAAAACATCATTAGTAGACACATGACTATACACACACACAGTGGGGTACTATTTACCTTTAAAAAAGAAAGAGATCCTGGGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGTTCAAGACCAGCATGACCAACATGGTGAAACCCCATCTCTACTAAAAAGTACAAAAATTAGCTGGGTGTGGTGGCGTGCGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAA
CCTTCACTTTGTCTTGCAATTTTATGTTGAATAGACAGTCGTTATTGAAGAATAAAAGGGAATATCTGGCCGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTGGGGAGACCGAGGTGGGCGGATCACCTGAGGTTAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACTCTGTCTCTACTAAAAATATAAAATTAGCCAGGTGTGGTGGTACATGCCTGTAATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATTGCTTGAACCTGGGAGGGGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACGAGAGCAAAACTCCATCTCAAAAAAAAAAAAGGAATGTCTGACTGTAGTGGGGCCAGAGTGAATAATACTTGTCATGCACTTCAAAGGCATCATTTTAAGGTTCTCCTTTTCTTAGAAAATCAGTTGTTATACATGTAGCTACAAATATAAAATGCCTTTAATATCAATATTCACTCATTGTAGGAAGAACATTCGTTTAACAGGTTGTCCATGGCAGATTCCTTTAAACCATTTAGTATCGAAATCTTCAACCACACACTGAATAGGGAGAGTAGTGTAGTAAGCTGCTGTGTGCTCATGACCAAGCTTTGGGTCATTGGCATCTAATGCACCTGCCATCCTGCCTTAGACCTCTGTCAATTACAAAGTTGCCGAAAAACAAGACAACAACAAAAAGTTGTAGTATATATGTCAGCCAATAATGTAGATAATTCAGAATGTACTTTTGGGGAGTAAATGAATCCAAATCCATGAACTGTTTTCAAAGTTATACCTCTACCTGTTACTTTATCAGTGACTGTTGTAGGTTTTTGTGCAGTGGTGTGAGCGTGTCCAGGTTTCCCATTTGGGATGAAGTGTGAAAGCCTGGCTCTAGCATGTTTTCCCTTTGTGCCTCTTAGGATTGAGCAGTACTACGAAGCCATCTTGGCTCTGTGGAACCAGCTCTACATCAACATGAAGAGCCTGGTGTCCTGGCACTACTGCATGATTGACATAGAGAAGATCAGGGCCATGACAATCGCCAAGGTATGTCCTCAGGGCCACTTAGGCTGCCTGGAGGGAGGGCAGCGCTGCCCCCCGCAGTGCCTGTGTCCAACAGTTCAACCTTCTTGCTGTGTAGCAGTGCTTTTGTGTCTCGTCAAGCAAGTCAGCTCAGCCCTCCTTAGAGGTTCTGGTCTGTCCAATAGAGAACAGGAGGGATTAGCATATGGCTGATTATGAGAGAAAGAAGCAATACTAATTCAGGTGGCCTGACAAGCAAGCCAGAAGTGCCTGTGGAAAAGTCATGCACTCCTGTAAGATTCTGGACCCTATGCTCCTTTGATGTAATGGAAAGTTAGGTCATAAAGGATTAACTGGGTATCACAAAAGTAAAAGGTGGGATAGAATTCTTGGAAGAGCACCCAAAGCATTACTTACTCTAAATCAGTTGTTTTCAGATCATGGTCTGAAGAATCCTAGCAGGAGAGGGAGATCCTTTAGGAGTGACAGGGATGGAAGTGAGGAGAGGGGCACAGAAAGTACCTTTTGGGGTCCCCCGAGCCCTTTTTCTCTTTGTAGTTGGAGCAGCTTTGCTGGGCTCTGCTTTACATTTAGGGCTTCTGAATAATATTTCGTTGAAGAAAAATATTCTGTAGGCAAAAAAAAAAAAAAAAAATTAGCAACCCATTCCTGTGGCTCTTGGGAACAATGTCTAAAACCTAAAAGACCTTTTATATCTTAATGAGCCTGTGATGAGTGTTGCTTTGAGTCCCATCTAGTGGGTGGCATTTTTTGGCCAACTCTTCTTGATTGCATTGTGGGGCAGTCATAAATCCCAAATCACTTCTGCCTGTCTCCTTTCAGCTGAAAACAATGCGGCAGGAAGATTACATGAAGACGATAGCCGACCTTGAGTTACATTACCAAGAGTTCATCAGAAATAGCCAAGGCTCAGAGATGTTTGGAGATGATGACAAGCGGAAAATACAGTCTCAGTTCACCGATGCCCAGAAGCCTTACCAGACCCTGGTCATTCAGCTCCCTGGCTATCCCCAGCACCAGACAGGTCGGCTTGGGACATCTTTCTCTTTGTATCAACCATCCATACCATTTTAAAAAGAAGGGAGTTTGCATAAAACTGGTTTCAGAACCATTTCTCTGAATGCTATATAGCCAGTGTTCTTCGTGCACTAAATTTTCAGAATTGATTCTGAAATTCAAAGGAAGAAGGTATACTTTTAGGTAGTATGGATGTTTTTTGAGGCCTAGCACCTTGATACCTAGGTATTCTCTGATTTTTGTGGCCCTAACTTCTTTTTACAGTGACCACAACTGAAATCACTCATCATGGAACCTGCCAAGATGTCAACCATAATAAAGTAATTGAAACCAACAGAGAAAATGACAAGCAAGAAACATGGATGCTGATGGAGCTGCAGAAGATTCGCAGGCAGATAGAGCACTGCGAGGGCAGGATGACTCTCAAAAACCTCCCTCTAGCAGACCAGGGATCTTCTCACCACATCACAGTGAAAATTAACGAGCTTAAGGTAGGTATCTGCTAGTATTTTGCCTGGTTACCCTGTATATTTTTATTTACCTGTAAATGAATAAAAAAAATCCTGGTTTAAATGTTTGTAGGCAAAAATATTAACTTTCAAGAAAACAGGCTTCTGGCAGGATTTCCTTATGTATTATGTTTCCAAATTTGTAGACGGTTATCAGGCTGGGGGTTAAACTGTTCGTTTGTGTGTTGTTGAATCAGGCTACCGTCCATCTCAAAAGTTTTCACAACCATTAATTTGGCTTCTTGCAGAGAACAACCTATGATATGGGTTAGACAGGGGGAATGATCTTTATTTGTAGACATGACACTGACATGAAGAGATTTGGTTGGTGAGATACGATCTCAAAGCCATAGACAGAGTGTGACTATGGCCCAGGTGTGTCAGCTCCTAACTCAGTGATGTTTTCTGCTCAACCAAGCCTGGGCACACTGCACTGGAAGGCCTAAATAGAGATATTCTAAGAGGATCACATTTACAGTGCTAATGAGGCCATACTCAAGAAAGAAATAGAAGGTCAACTCCTCTCTCTTCCTTGAATCCTTTACTTTTAGTGGACTTTTTAAGGGCAAAAATGATCATAAGATTCACACAGCTACAATGCAGAGTACTAACCTCTGTGTGATCAGTATGCCAAAATTGGAATGTAGTTGTGTTGCTTAATGACCGGGGCACATTCTAAGAAATGCATGGTTAGGCGATTTTGTCATGCAAGCGCCATAGAGCATACTTACACAAACCTAGATGGTATAGCCTACTATACACCTAGGCTACAAACCTGTAGGGCATGTGACTGTCCTAAATACTGTAGGCAATTGTGACACAATGGTAAGTGTGTATCTAAATATATCTAAACGTCGAAAAGATACAATAAAAATACAGTATTATAATCTTACGGGGGCTGGATGCAGGGGCACATGCCTGTAATCCCAGCTACTTGCTTGAGCTCAGGAGTTGGAGGCTGCAGGGAGCTATGATTGTACCACTGTACTCCAGTCTGGGCAACAGAGCAAGACCCTTCTCTTTAAAAAAAAATGTGTGTGTGTGTGTGTGTGTTTATATGTATGTATGTACATATGTGTGTGTGTATATATCTTAAGGGACCACCATTGTGTATACAGTTCATCATTGACCAAAACATCATTAGTAGACACATGACTATACACACACACAGTGGGGTACTATTTACCTTTAAAAAAGAAAGAGATCCTGGGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGTTCAAGACCAGCATGACCAACATGGTGAAACCCCATCTCTACTAAAAAGTACAAAAATTAGCTGGGTGTGGTGGCGTGCGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAA
Task1_train_9998
This variant affects gene DSP (desmoplakin) located on Chromosome 6. Evaluate its biological effect and specify any disease association.
Pathogenic; Arrhythmogenic right ventricular dysplasia 8
CCTTCACTTTGTCTTGCAATTTTATGTTGAATAGACAGTCGTTATTGAAGAATAAAAGGGAATATCTGGCCGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTGGGGAGACCGAGGTGGGCGGATCACCTGAGGTTAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACTCTGTCTCTACTAAAAATATAAAATTAGCCAGGTGTGGTGGTACATGCCTGTAATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATTGCTTGAACCTGGGAGGGGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACGAGAGCAAAACTCCATCTCAAAAAAAAAAAAGGAATGTCTGACTGTAGTGGGGCCAGAGTGAATAATACTTGTCATGCACTTCAAAGGCATCATTTTAAGGTTCTCCTTTTCTTAGAAAATCAGTTGTTATACATGTAGCTACAAATATAAAATGCCTTTAATATCAATATTCACTCATTGTAGGAAGAACATTCGTTTAACAGGTTGTCCATGGCAGATTCCTTTAAACCATTTAGTATCGAAATCTTCAACCACACACTGAATAGGGAGAGTAGTGTAGTAAGCTGCTGTGTGCTCATGACCAAGCTTTGGGTCATTGGCATCTAATGCACCTGCCATCCTGCCTTAGACCTCTGTCAATTACAAAGTTGCCGAAAAACAAGACAACAACAAAAAGTTGTAGTATATATGTCAGCCAATAATGTAGATAATTCAGAATGTACTTTTGGGGAGTAAATGAATCCAAATCCATGAACTGTTTTCAAAGTTATACCTCTACCTGTTACTTTATCAGTGACTGTTGTAGGTTTTTGTGCAGTGGTGTGAGCGTGTCCAGGTTTCCCATTTGGGATGAAGTGTGAAAGCCTGGCTCTAGCATGTTTTCCCTTTGTGCCTCTTAGGATTGAGCAGTACTACGAAGCCATCTTGGCTCTGTGGAACCAGCTCTACATCAACATGAAGAGCCTGGTGTCCTGGCACTACTGCATGATTGACATAGAGAAGATCAGGGCCATGACAATCGCCAAGGTATGTCCTCAGGGCCACTTAGGCTGCCTGGAGGGAGGGCAGCGCTGCCCCCCGCAGTGCCTGTGTCCAACAGTTCAACCTTCTTGCTGTGTAGCAGTGCTTTTGTGTCTCGTCAAGCAAGTCAGCTCAGCCCTCCTTAGAGGTTCTGGTCTGTCCAATAGAGAACAGGAGGGATTAGCATATGGCTGATTATGAGAGAAAGAAGCAATACTAATTCAGGTGGCCTGACAAGCAAGCCAGAAGTGCCTGTGGAAAAGTCATGCACTCCTGTAAGATTCTGGACCCTATGCTCCTTTGATGTAATGGAAAGTTAGGTCATAAAGGATTAACTGGGTATCACAAAAGTAAAAGGTGGGATAGAATTCTTGGAAGAGCACCCAAAGCATTACTTACTCTAAATCAGTTGTTTTCAGATCATGGTCTGAAGAATCCTAGCAGGAGAGGGAGATCCTTTAGGAGTGACAGGGATGGAAGTGAGGAGAGGGGCACAGAAAGTACCTTTTGGGGTCCCCCGAGCCCTTTTTCTCTTTGTAGTTGGAGCAGCTTTGCTGGGCTCTGCTTTACATTTAGGGCTTCTGAATAATATTTCGTTGAAGAAAAATATTCTGTAGGCAAAAAAAAAAAAAAAAAATTAGCAACCCATTCCTGTGGCTCTTGGGAACAATGTCTAAAACCTAAAAGACCTTTTATATCTTAATGAGCCTGTGATGAGTGTTGCTTTGAGTCCCATCTAGTGGGTGGCATTTTTTGGCCAACTCTTCTTGATTGCATTGTGGGGCAGTCATAAATCCCAAATCACTTCTGCCTGTCTCCTTTCAGCTGAAAACAATGCGGCAGGAAGATTACATGAAGACGATAGCCGACCTTGAGTTACATTACCAAGAGTTCATCAGAAATAGCCAAGGCTCAGAGATGTTTGGAGATGATGACAAGCGGAAAATACAGTCTCAGTTCACCGATGCCCAGAAGCATTACCAGACCCTGGTCATTCAGCTCCCTGGCTATCCCCAGCACCAGACAGGTCGGCTTGGGACATCTTTCTCTTTGTATCAACCATCCATACCATTTTAAAAAGAAGGGAGTTTGCATAAAACTGGTTTCAGAACCATTTCTCTGAATGCTATATAGCCAGTGTTCTTCGTGCACTAAATTTTCAGAATTGATTCTGAAATTCAAAGGAAGAAGGTATACTTTTAGGTAGTATGGATGTTTTTTGAGGCCTAGCACCTTGATACCTAGGTATTCTCTGATTTTTGTGGCCCTAACTTCTTTTTACAGTGACCACAACTGAAATCACTCATCATGGAACCTGCCAAGATGTCAACCATAATAAAGTAATTGAAACCAACAGAGAAAATGACAAGCAAGAAACATGGATGCTGATGGAGCTGCAGAAGATTCGCAGGCAGATAGAGCACTGCGAGGGCAGGATGACTCTCAAAAACCTCCCTCTAGCAGACCAGGGATCTTCTCACCACATCACAGTGAAAATTAACGAGCTTAAGGTAGGTATCTGCTAGTATTTTGCCTGGTTACCCTGTATATTTTTATTTACCTGTAAATGAATAAAAAAAATCCTGGTTTAAATGTTTGTAGGCAAAAATATTAACTTTCAAGAAAACAGGCTTCTGGCAGGATTTCCTTATGTATTATGTTTCCAAATTTGTAGACGGTTATCAGGCTGGGGGTTAAACTGTTCGTTTGTGTGTTGTTGAATCAGGCTACCGTCCATCTCAAAAGTTTTCACAACCATTAATTTGGCTTCTTGCAGAGAACAACCTATGATATGGGTTAGACAGGGGGAATGATCTTTATTTGTAGACATGACACTGACATGAAGAGATTTGGTTGGTGAGATACGATCTCAAAGCCATAGACAGAGTGTGACTATGGCCCAGGTGTGTCAGCTCCTAACTCAGTGATGTTTTCTGCTCAACCAAGCCTGGGCACACTGCACTGGAAGGCCTAAATAGAGATATTCTAAGAGGATCACATTTACAGTGCTAATGAGGCCATACTCAAGAAAGAAATAGAAGGTCAACTCCTCTCTCTTCCTTGAATCCTTTACTTTTAGTGGACTTTTTAAGGGCAAAAATGATCATAAGATTCACACAGCTACAATGCAGAGTACTAACCTCTGTGTGATCAGTATGCCAAAATTGGAATGTAGTTGTGTTGCTTAATGACCGGGGCACATTCTAAGAAATGCATGGTTAGGCGATTTTGTCATGCAAGCGCCATAGAGCATACTTACACAAACCTAGATGGTATAGCCTACTATACACCTAGGCTACAAACCTGTAGGGCATGTGACTGTCCTAAATACTGTAGGCAATTGTGACACAATGGTAAGTGTGTATCTAAATATATCTAAACGTCGAAAAGATACAATAAAAATACAGTATTATAATCTTACGGGGGCTGGATGCAGGGGCACATGCCTGTAATCCCAGCTACTTGCTTGAGCTCAGGAGTTGGAGGCTGCAGGGAGCTATGATTGTACCACTGTACTCCAGTCTGGGCAACAGAGCAAGACCCTTCTCTTTAAAAAAAAATGTGTGTGTGTGTGTGTGTGTTTATATGTATGTATGTACATATGTGTGTGTGTATATATCTTAAGGGACCACCATTGTGTATACAGTTCATCATTGACCAAAACATCATTAGTAGACACATGACTATACACACACACAGTGGGGTACTATTTACCTTTAAAAAAGAAAGAGATCCTGGGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGTTCAAGACCAGCATGACCAACATGGTGAAACCCCATCTCTACTAAAAAGTACAAAAATTAGCTGGGTGTGGTGGCGTGCGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAA
CCTTCACTTTGTCTTGCAATTTTATGTTGAATAGACAGTCGTTATTGAAGAATAAAAGGGAATATCTGGCCGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTGGGGAGACCGAGGTGGGCGGATCACCTGAGGTTAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACTCTGTCTCTACTAAAAATATAAAATTAGCCAGGTGTGGTGGTACATGCCTGTAATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATTGCTTGAACCTGGGAGGGGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACGAGAGCAAAACTCCATCTCAAAAAAAAAAAAGGAATGTCTGACTGTAGTGGGGCCAGAGTGAATAATACTTGTCATGCACTTCAAAGGCATCATTTTAAGGTTCTCCTTTTCTTAGAAAATCAGTTGTTATACATGTAGCTACAAATATAAAATGCCTTTAATATCAATATTCACTCATTGTAGGAAGAACATTCGTTTAACAGGTTGTCCATGGCAGATTCCTTTAAACCATTTAGTATCGAAATCTTCAACCACACACTGAATAGGGAGAGTAGTGTAGTAAGCTGCTGTGTGCTCATGACCAAGCTTTGGGTCATTGGCATCTAATGCACCTGCCATCCTGCCTTAGACCTCTGTCAATTACAAAGTTGCCGAAAAACAAGACAACAACAAAAAGTTGTAGTATATATGTCAGCCAATAATGTAGATAATTCAGAATGTACTTTTGGGGAGTAAATGAATCCAAATCCATGAACTGTTTTCAAAGTTATACCTCTACCTGTTACTTTATCAGTGACTGTTGTAGGTTTTTGTGCAGTGGTGTGAGCGTGTCCAGGTTTCCCATTTGGGATGAAGTGTGAAAGCCTGGCTCTAGCATGTTTTCCCTTTGTGCCTCTTAGGATTGAGCAGTACTACGAAGCCATCTTGGCTCTGTGGAACCAGCTCTACATCAACATGAAGAGCCTGGTGTCCTGGCACTACTGCATGATTGACATAGAGAAGATCAGGGCCATGACAATCGCCAAGGTATGTCCTCAGGGCCACTTAGGCTGCCTGGAGGGAGGGCAGCGCTGCCCCCCGCAGTGCCTGTGTCCAACAGTTCAACCTTCTTGCTGTGTAGCAGTGCTTTTGTGTCTCGTCAAGCAAGTCAGCTCAGCCCTCCTTAGAGGTTCTGGTCTGTCCAATAGAGAACAGGAGGGATTAGCATATGGCTGATTATGAGAGAAAGAAGCAATACTAATTCAGGTGGCCTGACAAGCAAGCCAGAAGTGCCTGTGGAAAAGTCATGCACTCCTGTAAGATTCTGGACCCTATGCTCCTTTGATGTAATGGAAAGTTAGGTCATAAAGGATTAACTGGGTATCACAAAAGTAAAAGGTGGGATAGAATTCTTGGAAGAGCACCCAAAGCATTACTTACTCTAAATCAGTTGTTTTCAGATCATGGTCTGAAGAATCCTAGCAGGAGAGGGAGATCCTTTAGGAGTGACAGGGATGGAAGTGAGGAGAGGGGCACAGAAAGTACCTTTTGGGGTCCCCCGAGCCCTTTTTCTCTTTGTAGTTGGAGCAGCTTTGCTGGGCTCTGCTTTACATTTAGGGCTTCTGAATAATATTTCGTTGAAGAAAAATATTCTGTAGGCAAAAAAAAAAAAAAAAAATTAGCAACCCATTCCTGTGGCTCTTGGGAACAATGTCTAAAACCTAAAAGACCTTTTATATCTTAATGAGCCTGTGATGAGTGTTGCTTTGAGTCCCATCTAGTGGGTGGCATTTTTTGGCCAACTCTTCTTGATTGCATTGTGGGGCAGTCATAAATCCCAAATCACTTCTGCCTGTCTCCTTTCAGCTGAAAACAATGCGGCAGGAAGATTACATGAAGACGATAGCCGACCTTGAGTTACATTACCAAGAGTTCATCAGAAATAGCCAAGGCTCAGAGATGTTTGGAGATGATGACAAGCGGAAAATACAGTCTCAGTTCACCGATGCCCAGAAGCCTTACCAGACCCTGGTCATTCAGCTCCCTGGCTATCCCCAGCACCAGACAGGTCGGCTTGGGACATCTTTCTCTTTGTATCAACCATCCATACCATTTTAAAAAGAAGGGAGTTTGCATAAAACTGGTTTCAGAACCATTTCTCTGAATGCTATATAGCCAGTGTTCTTCGTGCACTAAATTTTCAGAATTGATTCTGAAATTCAAAGGAAGAAGGTATACTTTTAGGTAGTATGGATGTTTTTTGAGGCCTAGCACCTTGATACCTAGGTATTCTCTGATTTTTGTGGCCCTAACTTCTTTTTACAGTGACCACAACTGAAATCACTCATCATGGAACCTGCCAAGATGTCAACCATAATAAAGTAATTGAAACCAACAGAGAAAATGACAAGCAAGAAACATGGATGCTGATGGAGCTGCAGAAGATTCGCAGGCAGATAGAGCACTGCGAGGGCAGGATGACTCTCAAAAACCTCCCTCTAGCAGACCAGGGATCTTCTCACCACATCACAGTGAAAATTAACGAGCTTAAGGTAGGTATCTGCTAGTATTTTGCCTGGTTACCCTGTATATTTTTATTTACCTGTAAATGAATAAAAAAAATCCTGGTTTAAATGTTTGTAGGCAAAAATATTAACTTTCAAGAAAACAGGCTTCTGGCAGGATTTCCTTATGTATTATGTTTCCAAATTTGTAGACGGTTATCAGGCTGGGGGTTAAACTGTTCGTTTGTGTGTTGTTGAATCAGGCTACCGTCCATCTCAAAAGTTTTCACAACCATTAATTTGGCTTCTTGCAGAGAACAACCTATGATATGGGTTAGACAGGGGGAATGATCTTTATTTGTAGACATGACACTGACATGAAGAGATTTGGTTGGTGAGATACGATCTCAAAGCCATAGACAGAGTGTGACTATGGCCCAGGTGTGTCAGCTCCTAACTCAGTGATGTTTTCTGCTCAACCAAGCCTGGGCACACTGCACTGGAAGGCCTAAATAGAGATATTCTAAGAGGATCACATTTACAGTGCTAATGAGGCCATACTCAAGAAAGAAATAGAAGGTCAACTCCTCTCTCTTCCTTGAATCCTTTACTTTTAGTGGACTTTTTAAGGGCAAAAATGATCATAAGATTCACACAGCTACAATGCAGAGTACTAACCTCTGTGTGATCAGTATGCCAAAATTGGAATGTAGTTGTGTTGCTTAATGACCGGGGCACATTCTAAGAAATGCATGGTTAGGCGATTTTGTCATGCAAGCGCCATAGAGCATACTTACACAAACCTAGATGGTATAGCCTACTATACACCTAGGCTACAAACCTGTAGGGCATGTGACTGTCCTAAATACTGTAGGCAATTGTGACACAATGGTAAGTGTGTATCTAAATATATCTAAACGTCGAAAAGATACAATAAAAATACAGTATTATAATCTTACGGGGGCTGGATGCAGGGGCACATGCCTGTAATCCCAGCTACTTGCTTGAGCTCAGGAGTTGGAGGCTGCAGGGAGCTATGATTGTACCACTGTACTCCAGTCTGGGCAACAGAGCAAGACCCTTCTCTTTAAAAAAAAATGTGTGTGTGTGTGTGTGTGTTTATATGTATGTATGTACATATGTGTGTGTGTATATATCTTAAGGGACCACCATTGTGTATACAGTTCATCATTGACCAAAACATCATTAGTAGACACATGACTATACACACACACAGTGGGGTACTATTTACCTTTAAAAAAGAAAGAGATCCTGGGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGTTCAAGACCAGCATGACCAACATGGTGAAACCCCATCTCTACTAAAAAGTACAAAAATTAGCTGGGTGTGGTGGCGTGCGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAA
Task1_train_9999
Given a variant located on Chromosome 6 and affecting DSP (desmoplakin), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
CTTGCAATTTTATGTTGAATAGACAGTCGTTATTGAAGAATAAAAGGGAATATCTGGCCGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTGGGGAGACCGAGGTGGGCGGATCACCTGAGGTTAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACTCTGTCTCTACTAAAAATATAAAATTAGCCAGGTGTGGTGGTACATGCCTGTAATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATTGCTTGAACCTGGGAGGGGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACGAGAGCAAAACTCCATCTCAAAAAAAAAAAAGGAATGTCTGACTGTAGTGGGGCCAGAGTGAATAATACTTGTCATGCACTTCAAAGGCATCATTTTAAGGTTCTCCTTTTCTTAGAAAATCAGTTGTTATACATGTAGCTACAAATATAAAATGCCTTTAATATCAATATTCACTCATTGTAGGAAGAACATTCGTTTAACAGGTTGTCCATGGCAGATTCCTTTAAACCATTTAGTATCGAAATCTTCAACCACACACTGAATAGGGAGAGTAGTGTAGTAAGCTGCTGTGTGCTCATGACCAAGCTTTGGGTCATTGGCATCTAATGCACCTGCCATCCTGCCTTAGACCTCTGTCAATTACAAAGTTGCCGAAAAACAAGACAACAACAAAAAGTTGTAGTATATATGTCAGCCAATAATGTAGATAATTCAGAATGTACTTTTGGGGAGTAAATGAATCCAAATCCATGAACTGTTTTCAAAGTTATACCTCTACCTGTTACTTTATCAGTGACTGTTGTAGGTTTTTGTGCAGTGGTGTGAGCGTGTCCAGGTTTCCCATTTGGGATGAAGTGTGAAAGCCTGGCTCTAGCATGTTTTCCCTTTGTGCCTCTTAGGATTGAGCAGTACTACGAAGCCATCTTGGCTCTGTGGAACCAGCTCTACATCAACATGAAGAGCCTGGTGTCCTGGCACTACTGCATGATTGACATAGAGAAGATCAGGGCCATGACAATCGCCAAGGTATGTCCTCAGGGCCACTTAGGCTGCCTGGAGGGAGGGCAGCGCTGCCCCCCGCAGTGCCTGTGTCCAACAGTTCAACCTTCTTGCTGTGTAGCAGTGCTTTTGTGTCTCGTCAAGCAAGTCAGCTCAGCCCTCCTTAGAGGTTCTGGTCTGTCCAATAGAGAACAGGAGGGATTAGCATATGGCTGATTATGAGAGAAAGAAGCAATACTAATTCAGGTGGCCTGACAAGCAAGCCAGAAGTGCCTGTGGAAAAGTCATGCACTCCTGTAAGATTCTGGACCCTATGCTCCTTTGATGTAATGGAAAGTTAGGTCATAAAGGATTAACTGGGTATCACAAAAGTAAAAGGTGGGATAGAATTCTTGGAAGAGCACCCAAAGCATTACTTACTCTAAATCAGTTGTTTTCAGATCATGGTCTGAAGAATCCTAGCAGGAGAGGGAGATCCTTTAGGAGTGACAGGGATGGAAGTGAGGAGAGGGGCACAGAAAGTACCTTTTGGGGTCCCCCGAGCCCTTTTTCTCTTTGTAGTTGGAGCAGCTTTGCTGGGCTCTGCTTTACATTTAGGGCTTCTGAATAATATTTCGTTGAAGAAAAATATTCTGTAGGCAAAAAAAAAAAAAAAAAATTAGCAACCCATTCCTGTGGCTCTTGGGAACAATGTCTAAAACCTAAAAGACCTTTTATATCTTAATGAGCCTGTGATGAGTGTTGCTTTGAGTCCCATCTAGTGGGTGGCATTTTTTGGCCAACTCTTCTTGATTGCATTGTGGGGCAGTCATAAATCCCAAATCACTTCTGCCTGTCTCCTTTCAGCTGAAAACAATGCGGCAGGAAGATTACATGAAGACGATAGCCGACCTTGAGTTACATTACCAAGAGTTCATCAGAAATAGCCAAGGCTCAGAGATGTTTGGAGATGATGACAAGCGGAAAATACAGTCTCAGTTCACCGATGCCCAGAAGCATTACCAGACCCTGGTCATTCAGCTCCCTGGCTATCCCCAGCACCAGACAGGTCGGCTTGGGACATCTTTCTCTTTGTATCAACCATCCATACCATTTTAAAAAGAAGGGAGTTTGCATAAAACTGGTTTCAGAACCATTTCTCTGAATGCTATATAGCCAGTGTTCTTCGTGCACTAAATTTTCAGAATTGATTCTGAAATTCAAAGGAAGAAGGTATACTTTTAGGTAGTATGGATGTTTTTTGAGGCCTAGCACCTTGATACCTAGGTATTCTCTGATTTTTGTGGCCCTAACTTCTTTTTACAGTGACCACAACTGAAATCACTCATCATGGAACCTGCCAAGATGTCAACCATAATAAAGTAATTGAAACCAACAGAGAAAATGACAAGCAAGAAACATGGATGCTGATGGAGCTGCAGAAGATTCGCAGGCAGATAGAGCACTGCGAGGGCAGGATGACTCTCAAAAACCTCCCTCTAGCAGACCAGGGATCTTCTCACCACATCACAGTGAAAATTAACGAGCTTAAGGTAGGTATCTGCTAGTATTTTGCCTGGTTACCCTGTATATTTTTATTTACCTGTAAATGAATAAAAAAAATCCTGGTTTAAATGTTTGTAGGCAAAAATATTAACTTTCAAGAAAACAGGCTTCTGGCAGGATTTCCTTATGTATTATGTTTCCAAATTTGTAGACGGTTATCAGGCTGGGGGTTAAACTGTTCGTTTGTGTGTTGTTGAATCAGGCTACCGTCCATCTCAAAAGTTTTCACAACCATTAATTTGGCTTCTTGCAGAGAACAACCTATGATATGGGTTAGACAGGGGGAATGATCTTTATTTGTAGACATGACACTGACATGAAGAGATTTGGTTGGTGAGATACGATCTCAAAGCCATAGACAGAGTGTGACTATGGCCCAGGTGTGTCAGCTCCTAACTCAGTGATGTTTTCTGCTCAACCAAGCCTGGGCACACTGCACTGGAAGGCCTAAATAGAGATATTCTAAGAGGATCACATTTACAGTGCTAATGAGGCCATACTCAAGAAAGAAATAGAAGGTCAACTCCTCTCTCTTCCTTGAATCCTTTACTTTTAGTGGACTTTTTAAGGGCAAAAATGATCATAAGATTCACACAGCTACAATGCAGAGTACTAACCTCTGTGTGATCAGTATGCCAAAATTGGAATGTAGTTGTGTTGCTTAATGACCGGGGCACATTCTAAGAAATGCATGGTTAGGCGATTTTGTCATGCAAGCGCCATAGAGCATACTTACACAAACCTAGATGGTATAGCCTACTATACACCTAGGCTACAAACCTGTAGGGCATGTGACTGTCCTAAATACTGTAGGCAATTGTGACACAATGGTAAGTGTGTATCTAAATATATCTAAACGTCGAAAAGATACAATAAAAATACAGTATTATAATCTTACGGGGGCTGGATGCAGGGGCACATGCCTGTAATCCCAGCTACTTGCTTGAGCTCAGGAGTTGGAGGCTGCAGGGAGCTATGATTGTACCACTGTACTCCAGTCTGGGCAACAGAGCAAGACCCTTCTCTTTAAAAAAAAATGTGTGTGTGTGTGTGTGTGTTTATATGTATGTATGTACATATGTGTGTGTGTATATATCTTAAGGGACCACCATTGTGTATACAGTTCATCATTGACCAAAACATCATTAGTAGACACATGACTATACACACACACAGTGGGGTACTATTTACCTTTAAAAAAGAAAGAGATCCTGGGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGTTCAAGACCAGCATGACCAACATGGTGAAACCCCATCTCTACTAAAAAGTACAAAAATTAGCTGGGTGTGGTGGCGTGCGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAGA
CTTGCAATTTTATGTTGAATAGACAGTCGTTATTGAAGAATAAAAGGGAATATCTGGCCGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTGGGGAGACCGAGGTGGGCGGATCACCTGAGGTTAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACTCTGTCTCTACTAAAAATATAAAATTAGCCAGGTGTGGTGGTACATGCCTGTAATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATTGCTTGAACCTGGGAGGGGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACGAGAGCAAAACTCCATCTCAAAAAAAAAAAAGGAATGTCTGACTGTAGTGGGGCCAGAGTGAATAATACTTGTCATGCACTTCAAAGGCATCATTTTAAGGTTCTCCTTTTCTTAGAAAATCAGTTGTTATACATGTAGCTACAAATATAAAATGCCTTTAATATCAATATTCACTCATTGTAGGAAGAACATTCGTTTAACAGGTTGTCCATGGCAGATTCCTTTAAACCATTTAGTATCGAAATCTTCAACCACACACTGAATAGGGAGAGTAGTGTAGTAAGCTGCTGTGTGCTCATGACCAAGCTTTGGGTCATTGGCATCTAATGCACCTGCCATCCTGCCTTAGACCTCTGTCAATTACAAAGTTGCCGAAAAACAAGACAACAACAAAAAGTTGTAGTATATATGTCAGCCAATAATGTAGATAATTCAGAATGTACTTTTGGGGAGTAAATGAATCCAAATCCATGAACTGTTTTCAAAGTTATACCTCTACCTGTTACTTTATCAGTGACTGTTGTAGGTTTTTGTGCAGTGGTGTGAGCGTGTCCAGGTTTCCCATTTGGGATGAAGTGTGAAAGCCTGGCTCTAGCATGTTTTCCCTTTGTGCCTCTTAGGATTGAGCAGTACTACGAAGCCATCTTGGCTCTGTGGAACCAGCTCTACATCAACATGAAGAGCCTGGTGTCCTGGCACTACTGCATGATTGACATAGAGAAGATCAGGGCCATGACAATCGCCAAGGTATGTCCTCAGGGCCACTTAGGCTGCCTGGAGGGAGGGCAGCGCTGCCCCCCGCAGTGCCTGTGTCCAACAGTTCAACCTTCTTGCTGTGTAGCAGTGCTTTTGTGTCTCGTCAAGCAAGTCAGCTCAGCCCTCCTTAGAGGTTCTGGTCTGTCCAATAGAGAACAGGAGGGATTAGCATATGGCTGATTATGAGAGAAAGAAGCAATACTAATTCAGGTGGCCTGACAAGCAAGCCAGAAGTGCCTGTGGAAAAGTCATGCACTCCTGTAAGATTCTGGACCCTATGCTCCTTTGATGTAATGGAAAGTTAGGTCATAAAGGATTAACTGGGTATCACAAAAGTAAAAGGTGGGATAGAATTCTTGGAAGAGCACCCAAAGCATTACTTACTCTAAATCAGTTGTTTTCAGATCATGGTCTGAAGAATCCTAGCAGGAGAGGGAGATCCTTTAGGAGTGACAGGGATGGAAGTGAGGAGAGGGGCACAGAAAGTACCTTTTGGGGTCCCCCGAGCCCTTTTTCTCTTTGTAGTTGGAGCAGCTTTGCTGGGCTCTGCTTTACATTTAGGGCTTCTGAATAATATTTCGTTGAAGAAAAATATTCTGTAGGCAAAAAAAAAAAAAAAAAATTAGCAACCCATTCCTGTGGCTCTTGGGAACAATGTCTAAAACCTAAAAGACCTTTTATATCTTAATGAGCCTGTGATGAGTGTTGCTTTGAGTCCCATCTAGTGGGTGGCATTTTTTGGCCAACTCTTCTTGATTGCATTGTGGGGCAGTCATAAATCCCAAATCACTTCTGCCTGTCTCCTTTCAGCTGAAAACAATGCGGCAGGAAGATTACATGAAGACGATAGCCGACCTTGAGTTACATTACCAAGAGTTCATCAGAAATAGCCAAGGCTCAGAGATGTTTGGAGATGATGACAAGCGGAAAATACAGTCTCAGTTCACCGATGCCCAGAAGCATTACCAGACCCCGGTCATTCAGCTCCCTGGCTATCCCCAGCACCAGACAGGTCGGCTTGGGACATCTTTCTCTTTGTATCAACCATCCATACCATTTTAAAAAGAAGGGAGTTTGCATAAAACTGGTTTCAGAACCATTTCTCTGAATGCTATATAGCCAGTGTTCTTCGTGCACTAAATTTTCAGAATTGATTCTGAAATTCAAAGGAAGAAGGTATACTTTTAGGTAGTATGGATGTTTTTTGAGGCCTAGCACCTTGATACCTAGGTATTCTCTGATTTTTGTGGCCCTAACTTCTTTTTACAGTGACCACAACTGAAATCACTCATCATGGAACCTGCCAAGATGTCAACCATAATAAAGTAATTGAAACCAACAGAGAAAATGACAAGCAAGAAACATGGATGCTGATGGAGCTGCAGAAGATTCGCAGGCAGATAGAGCACTGCGAGGGCAGGATGACTCTCAAAAACCTCCCTCTAGCAGACCAGGGATCTTCTCACCACATCACAGTGAAAATTAACGAGCTTAAGGTAGGTATCTGCTAGTATTTTGCCTGGTTACCCTGTATATTTTTATTTACCTGTAAATGAATAAAAAAAATCCTGGTTTAAATGTTTGTAGGCAAAAATATTAACTTTCAAGAAAACAGGCTTCTGGCAGGATTTCCTTATGTATTATGTTTCCAAATTTGTAGACGGTTATCAGGCTGGGGGTTAAACTGTTCGTTTGTGTGTTGTTGAATCAGGCTACCGTCCATCTCAAAAGTTTTCACAACCATTAATTTGGCTTCTTGCAGAGAACAACCTATGATATGGGTTAGACAGGGGGAATGATCTTTATTTGTAGACATGACACTGACATGAAGAGATTTGGTTGGTGAGATACGATCTCAAAGCCATAGACAGAGTGTGACTATGGCCCAGGTGTGTCAGCTCCTAACTCAGTGATGTTTTCTGCTCAACCAAGCCTGGGCACACTGCACTGGAAGGCCTAAATAGAGATATTCTAAGAGGATCACATTTACAGTGCTAATGAGGCCATACTCAAGAAAGAAATAGAAGGTCAACTCCTCTCTCTTCCTTGAATCCTTTACTTTTAGTGGACTTTTTAAGGGCAAAAATGATCATAAGATTCACACAGCTACAATGCAGAGTACTAACCTCTGTGTGATCAGTATGCCAAAATTGGAATGTAGTTGTGTTGCTTAATGACCGGGGCACATTCTAAGAAATGCATGGTTAGGCGATTTTGTCATGCAAGCGCCATAGAGCATACTTACACAAACCTAGATGGTATAGCCTACTATACACCTAGGCTACAAACCTGTAGGGCATGTGACTGTCCTAAATACTGTAGGCAATTGTGACACAATGGTAAGTGTGTATCTAAATATATCTAAACGTCGAAAAGATACAATAAAAATACAGTATTATAATCTTACGGGGGCTGGATGCAGGGGCACATGCCTGTAATCCCAGCTACTTGCTTGAGCTCAGGAGTTGGAGGCTGCAGGGAGCTATGATTGTACCACTGTACTCCAGTCTGGGCAACAGAGCAAGACCCTTCTCTTTAAAAAAAAATGTGTGTGTGTGTGTGTGTGTTTATATGTATGTATGTACATATGTGTGTGTGTATATATCTTAAGGGACCACCATTGTGTATACAGTTCATCATTGACCAAAACATCATTAGTAGACACATGACTATACACACACACAGTGGGGTACTATTTACCTTTAAAAAAGAAAGAGATCCTGGGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGTTCAAGACCAGCATGACCAACATGGTGAAACCCCATCTCTACTAAAAAGTACAAAAATTAGCTGGGTGTGGTGGCGTGCGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAGA