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_17500
|
This variant affects the gene COL2A1 (collagen type II alpha 1 chain) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
|
Pathogenic; Stickler syndrome type 1
|
GAGTGAAGCTGCTTTATTTTGGCCAGCCCTGCAAGGACCTGTGAGGAGGGGCCTCAGAGCTTGGGTGTTGGGGGTATGAAATCAGCAGAAAGCATAATCTTTCTTAAACACAGCTTTCATCGCATCACTCGCCTGACCAAGTGCCTACAAGGACTCTCTATTGCTAAGGAATCAGAGCTAAACGCCTCTGTCTGGCACCCTGCACCCTCCATCAGCTGCCAATCCCCTCACCCTTAATTTCCCACATTAACTAGAGGCCACCAGAGTCTAAGGCTGCAAGGCACTATTTATCTTAAGCTATTTCACCTTTCTGTGTCTCGGTTTTTTCATCCGTAAAATGGGGAGAAGAATAGAACCACCTCTCAGGATATGGAGGAAGATGAGATGAAGTAAAGCATATAGGGTATTAAACACAGGAAGTGCCTATGGAATGGTGGCCCCTGGTACTATAGCATAACATCCCTCACAGCAGCAGCCAGCATAGAGCCCTGTGAGTTGATGCTCACCTGTTCCACTTTTCTAGGGCATTTGAGCAACCAGGAAGAACAGAGAGTAGCACGGTGGTGCTATAGCCAGCTAAGTCTGTCTGTAAACTCCAGCTGGATTGCCCAGGGAGTGGGTGGTGGTTGTTGAAGGGATTACCTGATAATCTGGACTGGTTAAGAGAATCATGCTTTCACCCATCGACCCTCCCATTCCTATCCTTCCTCCTTCAACTGTGCAGACTCAGCCTGGGAAGTTTTGATGGGCACACTGGGGGTGAATTCTTAAGGGATAACAATACTCCCTATGCCTCACAGGGTTGTTTCGAGGGTCAAGAGAAACAAACCTGTAAACTCTAAAGTGCTCGGCAAATGGTGGTGTTTGGCTTTGTCAATTACTCACCGCAGCGCCAGCAGGGCCAGTCCGTCCTCTTTCACCAGGCAGGCCACGAGGACCCTGGAACACACACCAGGACAGCCTAAGCATGAGTTGGCTTTACGGTGCTCAGGGTGACCATTTCTACCTGCAGGCCCTTTGCGGATACCAGAGGAGAGGGAGGATGCCCACACCCAGGAAAACAAGGACCTCCTGATGGTGCTGGCTCCTTGACTAGCCAGGATGCCTCAGATCACACCCAACAGTTTTCTCCACAGGCGGAACACACGAATGTTCCTGTTGCTACCTATTGGGAACCTTTGTTACAAGCACACCTTGCTCCTTGCAGTAGATGAGCTTGACAAAATGTTGAGACTCAACAGAATTTTTTTAAATGGGAGCATCTTTAGTGTGATAAAATGGGTATCTTAAGGAAATGTTGGTGAAATCTTGAACAAATCATCTGTCTAATACATTTTGCTTTTTGCTCACAATCAGATGAAATCTACAACACAGAATATGAACTTTGCACAAAGGGAGCTCTTTGCAGCCATCTGATAGTCTGAAGAGTCTTTGATAAACCTTCCTGGAGGGTGTCCATACTTACCATTGGGCCCGGAGATCCGTTCTCACCCGGGGAACCACTCTCACCCTGGAAAAATGATGCACAAGGTCAGTGTCTGGGACCCCATTCTTGGCCGCCAGCAAACTCCTAGGGAAGACGCCAAAAGCCCTGGTCATCTCAGCTCGCACTGACACAAACTTCAGTCCTGTGAGGGACAATGCCCTGAGCTCTCCAGGCCTGCTGTTGGCCCATCAGGATGTAGGGCTGGTGTTCCCAGCCAAGGCTGTTCTGAGGAGCTAGTTCCACTGAGCTCCACAGTGTCTCCCTGGCTAGGAAGAGGGGCTCCTCATTGTCTCCCTCCTCCCCATCCCATTGTACTTTCTGGCCTCTCACCTTCACACCAGGAGCACCCGCCTCTCCCTTAGCACCGTCCAGGCCTGGATAACCCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGGAAACCACGAGCACCCTGCAATCCAAAGTGGAGGTGTTCAGAGCACAGAGTAAAATAACAGTGGAAAGCTGCCCTGGGCTGCAGGAGGGCCTCCAGTTCCCTTGGGCCACCAGGGCGTTGTCTCGAATCCCCACACTTGGACAGCTCTTTCTGTAAAACCCAGACCACCCCTCCCCGTACCCCCCATTTTATGCAAAGTGGTATAAATAACAACTGCCCAGCCTCCCTCATGAGAGCCTGAGTGGAAATTACAAACATGGTCGTGATAAATATAGGGGCTACTGGCGTTTCATCTCAGAAGTGACCTCATTGAACTGGATGCACTGTGTTTAAGGCCACAGGGAGGGAGACGCTAGGAAAGATGCCTGAGGCTGGGAACGGTGGCGTTTACCTGAGGACCAGGCGGACCCCTTTCACCAGCTTTTCCAGGTTTTCCAGCTTCACCCTGAAGGGAGAGAGAGAGATATCCCAGCTTCCTCAGAGACGCAGTAGCATAGTGGGGGCACCCCAGAGGGCTTCCCTCCTTCCAGCCCTCCATGCCTTTGCCTACCGGCTCACTCATCTCCCTCACCTCCTTCAGACTCCACGTGCCTGGATGCCTTTCATGGGTCACCATTTATTCTTTTGGACACATGCATAGCCCATGGGCAAGCTCCTCTGTCCTCACCAGCCTCCAACTTCCCCTGAGAGGCTTTTTCTCTCCTCTCCTAGGTTCTGCTGACTGTATGTGCTCTCTCTAACCTCAAGAGACTTTTACTGTCTAATGCAATTCATAAAAATAGCACAAGAGTGCCAATTCTTGTCTCTTCATTTCGTTTGCATCCTTTGTAGACATCCTGACTCAGGCTGTGCTTTTTCTAACTCATTTACAATTAAGATAATGCTGGGTTGTTGAACGCTTCTTTCTTTGTTTTTCCTTCTCTACATCTTTCTGCCTTGTATTTTTTCTCTCCCTTCTCTCATTTCTCAATTTCCCTTCCTGGGGCTAATGATGTTTTAATTATTTGTCTTCCCCTTGGATCCAAAGCGGTCCCCAGGGAACTTGCCAGCACAGTCACAGTGGCCATATAGATAGGAGATGGCGTCAGGGTTTGGGACTGCCCAGTCTTGCTCCTCAAGATACCTCCACCCTGGGTGCCTCCCTGTCACTCCCCAAGCACACACCCTCTCCAGGCCCTTTCAAAGGAGGCAGCTCCTCATTTGTCTACTCGTGTATACTCACATCATCACCAGGCTTTCCAGGGGGACCAGGAGGACCACGGGGACCCATGGGACCCTACAAACAAAGGAAGATAGTTTAAGAGATGGTTATAGTGGGAAGACACCTAAGCAATGGACAAAACTTTGACATTGTAGTTTTGGAAGCCAGTTCTTCTATGAAGAAGAAAGATGGGAAGGTCAGAGCAAAGGTGCAGAGATCATAGTGGGACGCAGCAGATAGCACAGGCTGGGGTGACCCGGAAAGGGGGCTGTTAGGACAGAGTCCCTGGTGGTCCTTGCCACATTGGGCTGTCTGTCAGAGTTCCTCCACAGCTAGGAAGTGACATCCGAATTTCCTTGGGGCCACCGACTGTGGGAAAGAGCTGGGCAGAGCCTGGGAGGGACAGCAGCTGCGGTCCTAGTGGTCTATCATTAGAGGCTCCCCCAGAGAAGGGACAGGGCCGTGCTGGTACTCACAGAGACACCAGGTTCACCAGGTTCACCAGGATTGCCTTGAAATCCTTGAGGCCCCTAAAAAGTAAAATGAGGATACCAGGTCAATCCCTATAAACTGCTAAAACATCATAGTGCTTGGGAATCATCTGCGACACGATGGAGGCAAAAAGAATTGCAGATACTTACAGGAGCACCTGCAGGGCCTGGAGGTCCTCGAGGTCCCATGGGGCCCTGCATCGGAACAGAAAATGAGGGGTTTACTACACATGCTTCCTCAGTGGCCTCCAGTGTGCCATCTTCTCCCAGCCAACAGCCCGGGCAAAGGACAAGAAGTTACTCTGTGGGCAAGGGGCCTAGAGTGGCTGCTCCCTCTCATTTCCCACTCCCCACGCAACACTCT
|
GAGTGAAGCTGCTTTATTTTGGCCAGCCCTGCAAGGACCTGTGAGGAGGGGCCTCAGAGCTTGGGTGTTGGGGGTATGAAATCAGCAGAAAGCATAATCTTTCTTAAACACAGCTTTCATCGCATCACTCGCCTGACCAAGTGCCTACAAGGACTCTCTATTGCTAAGGAATCAGAGCTAAACGCCTCTGTCTGGCACCCTGCACCCTCCATCAGCTGCCAATCCCCTCACCCTTAATTTCCCACATTAACTAGAGGCCACCAGAGTCTAAGGCTGCAAGGCACTATTTATCTTAAGCTATTTCACCTTTCTGTGTCTCGGTTTTTTCATCCGTAAAATGGGGAGAAGAATAGAACCACCTCTCAGGATATGGAGGAAGATGAGATGAAGTAAAGCATATAGGGTATTAAACACAGGAAGTGCCTATGGAATGGTGGCCCCTGGTACTATAGCATAACATCCCTCACAGCAGCAGCCAGCATAGAGCCCTGTGAGTTGATGCTCACCTGTTCCACTTTTCTAGGGCATTTGAGCAACCAGGAAGAACAGAGAGTAGCACGGTGGTGCTATAGCCAGCTAAGTCTGTCTGTAAACTCCAGCTGGATTGCCCAGGGAGTGGGTGGTGGTTGTTGAAGGGATTACCTGATAATCTGGACTGGTTAAGAGAATCATGCTTTCACCCATCGACCCTCCCATTCCTATCCTTCCTCCTTCAACTGTGCAGACTCAGCCTGGGAAGTTTTGATGGGCACACTGGGGGTGAATTCTTAAGGGATAACAATACTCCCTATGCCTCACAGGGTTGTTTCGAGGGTCAAGAGAAACAAACCTGTAAACTCTAAAGTGCTCGGCAAATGGTGGTGTTTGGCTTTGTCAATTACTCACCGCAGCGCCAGCAGGGCCAGTCCGTCCTCTTTCACCAGGCAGGCCACGAGGACCCTGGAACACACACCAGGACAGCCTAAGCATGAGTTGGCTTTACGGTGCTCAGGGTGACCATTTCTACCTGCAGGCCCTTTGCGGATACCAGAGGAGAGGGAGGATGCCCACACCCAGGAAAACAAGGACCTCCTGATGGTGCTGGCTCCTTGACTAGCCAGGATGCCTCAGATCACACCCAACAGTTTTCTCCACAGGCGGAACACACGAATGTTCCTGTTGCTACCTATTGGGAACCTTTGTTACAAGCACACCTTGCTCCTTGCAGTAGATGAGCTTGACAAAATGTTGAGACTCAACAGAATTTTTTTAAATGGGAGCATCTTTAGTGTGATAAAATGGGTATCTTAAGGAAATGTTGGTGAAATCTTGAACAAATCATCTGTCTAATACATTTTGCTTTTTGCTCACAATCAGATGAAATCTACAACACAGAATATGAACTTTGCACAAAGGGAGCTCTTTGCAGCCATCTGATAGTCTGAAGAGTCTTTGATAAACCTTCCTGGAGGGTGTCCATACTTACCATTGGGCCCGGAGATCCGTTCTCACCCGGGGAACCACTCTCACCCTGGAAAAATGATGCACAAGGTCAGTGTCTGGGACCCCATTCTTGGCCGCCAGCAAACTCCTAGGGAAGACGCCAAAAGCCCTGGTCATCTCAGCTCGCACTGACACAAACTTCAGTCCTGTGAGGGACAATGCCCTGAGCTCTCCAGGCCTGCTGTTGGCCCATCAGGATGTAGGGCTGGTGTTCCCAGCCAAGGCTGTTCTGAGGAGCTAGTTCCACTGAGCTCCACAGTGTCTCCCTGGCTAGGAAGAGGGGCTCCTCATTGTCTCCCTCCTCCCCATCCCATTGTACTTTCTGGCCTCTCACCTTCACACCAGGAGCACCCGCCTCTCCCTTAGCACCGTCCAGGCCTGGATAACCCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGGAAACCACAAGCACCCTGCAATCCAAAGTGGAGGTGTTCAGAGCACAGAGTAAAATAACAGTGGAAAGCTGCCCTGGGCTGCAGGAGGGCCTCCAGTTCCCTTGGGCCACCAGGGCGTTGTCTCGAATCCCCACACTTGGACAGCTCTTTCTGTAAAACCCAGACCACCCCTCCCCGTACCCCCCATTTTATGCAAAGTGGTATAAATAACAACTGCCCAGCCTCCCTCATGAGAGCCTGAGTGGAAATTACAAACATGGTCGTGATAAATATAGGGGCTACTGGCGTTTCATCTCAGAAGTGACCTCATTGAACTGGATGCACTGTGTTTAAGGCCACAGGGAGGGAGACGCTAGGAAAGATGCCTGAGGCTGGGAACGGTGGCGTTTACCTGAGGACCAGGCGGACCCCTTTCACCAGCTTTTCCAGGTTTTCCAGCTTCACCCTGAAGGGAGAGAGAGAGATATCCCAGCTTCCTCAGAGACGCAGTAGCATAGTGGGGGCACCCCAGAGGGCTTCCCTCCTTCCAGCCCTCCATGCCTTTGCCTACCGGCTCACTCATCTCCCTCACCTCCTTCAGACTCCACGTGCCTGGATGCCTTTCATGGGTCACCATTTATTCTTTTGGACACATGCATAGCCCATGGGCAAGCTCCTCTGTCCTCACCAGCCTCCAACTTCCCCTGAGAGGCTTTTTCTCTCCTCTCCTAGGTTCTGCTGACTGTATGTGCTCTCTCTAACCTCAAGAGACTTTTACTGTCTAATGCAATTCATAAAAATAGCACAAGAGTGCCAATTCTTGTCTCTTCATTTCGTTTGCATCCTTTGTAGACATCCTGACTCAGGCTGTGCTTTTTCTAACTCATTTACAATTAAGATAATGCTGGGTTGTTGAACGCTTCTTTCTTTGTTTTTCCTTCTCTACATCTTTCTGCCTTGTATTTTTTCTCTCCCTTCTCTCATTTCTCAATTTCCCTTCCTGGGGCTAATGATGTTTTAATTATTTGTCTTCCCCTTGGATCCAAAGCGGTCCCCAGGGAACTTGCCAGCACAGTCACAGTGGCCATATAGATAGGAGATGGCGTCAGGGTTTGGGACTGCCCAGTCTTGCTCCTCAAGATACCTCCACCCTGGGTGCCTCCCTGTCACTCCCCAAGCACACACCCTCTCCAGGCCCTTTCAAAGGAGGCAGCTCCTCATTTGTCTACTCGTGTATACTCACATCATCACCAGGCTTTCCAGGGGGACCAGGAGGACCACGGGGACCCATGGGACCCTACAAACAAAGGAAGATAGTTTAAGAGATGGTTATAGTGGGAAGACACCTAAGCAATGGACAAAACTTTGACATTGTAGTTTTGGAAGCCAGTTCTTCTATGAAGAAGAAAGATGGGAAGGTCAGAGCAAAGGTGCAGAGATCATAGTGGGACGCAGCAGATAGCACAGGCTGGGGTGACCCGGAAAGGGGGCTGTTAGGACAGAGTCCCTGGTGGTCCTTGCCACATTGGGCTGTCTGTCAGAGTTCCTCCACAGCTAGGAAGTGACATCCGAATTTCCTTGGGGCCACCGACTGTGGGAAAGAGCTGGGCAGAGCCTGGGAGGGACAGCAGCTGCGGTCCTAGTGGTCTATCATTAGAGGCTCCCCCAGAGAAGGGACAGGGCCGTGCTGGTACTCACAGAGACACCAGGTTCACCAGGTTCACCAGGATTGCCTTGAAATCCTTGAGGCCCCTAAAAAGTAAAATGAGGATACCAGGTCAATCCCTATAAACTGCTAAAACATCATAGTGCTTGGGAATCATCTGCGACACGATGGAGGCAAAAAGAATTGCAGATACTTACAGGAGCACCTGCAGGGCCTGGAGGTCCTCGAGGTCCCATGGGGCCCTGCATCGGAACAGAAAATGAGGGGTTTACTACACATGCTTCCTCAGTGGCCTCCAGTGTGCCATCTTCTCCCAGCCAACAGCCCGGGCAAAGGACAAGAAGTTACTCTGTGGGCAAGGGGCCTAGAGTGGCTGCTCCCTCTCATTTCCCACTCCCCACGCAACACTCT
|
Task1_train_17501
|
This mutation is located in gene COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism?
|
Pathogenic; Stickler syndrome, type I, nonsyndromic ocular
|
TAGGGTATTAAACACAGGAAGTGCCTATGGAATGGTGGCCCCTGGTACTATAGCATAACATCCCTCACAGCAGCAGCCAGCATAGAGCCCTGTGAGTTGATGCTCACCTGTTCCACTTTTCTAGGGCATTTGAGCAACCAGGAAGAACAGAGAGTAGCACGGTGGTGCTATAGCCAGCTAAGTCTGTCTGTAAACTCCAGCTGGATTGCCCAGGGAGTGGGTGGTGGTTGTTGAAGGGATTACCTGATAATCTGGACTGGTTAAGAGAATCATGCTTTCACCCATCGACCCTCCCATTCCTATCCTTCCTCCTTCAACTGTGCAGACTCAGCCTGGGAAGTTTTGATGGGCACACTGGGGGTGAATTCTTAAGGGATAACAATACTCCCTATGCCTCACAGGGTTGTTTCGAGGGTCAAGAGAAACAAACCTGTAAACTCTAAAGTGCTCGGCAAATGGTGGTGTTTGGCTTTGTCAATTACTCACCGCAGCGCCAGCAGGGCCAGTCCGTCCTCTTTCACCAGGCAGGCCACGAGGACCCTGGAACACACACCAGGACAGCCTAAGCATGAGTTGGCTTTACGGTGCTCAGGGTGACCATTTCTACCTGCAGGCCCTTTGCGGATACCAGAGGAGAGGGAGGATGCCCACACCCAGGAAAACAAGGACCTCCTGATGGTGCTGGCTCCTTGACTAGCCAGGATGCCTCAGATCACACCCAACAGTTTTCTCCACAGGCGGAACACACGAATGTTCCTGTTGCTACCTATTGGGAACCTTTGTTACAAGCACACCTTGCTCCTTGCAGTAGATGAGCTTGACAAAATGTTGAGACTCAACAGAATTTTTTTAAATGGGAGCATCTTTAGTGTGATAAAATGGGTATCTTAAGGAAATGTTGGTGAAATCTTGAACAAATCATCTGTCTAATACATTTTGCTTTTTGCTCACAATCAGATGAAATCTACAACACAGAATATGAACTTTGCACAAAGGGAGCTCTTTGCAGCCATCTGATAGTCTGAAGAGTCTTTGATAAACCTTCCTGGAGGGTGTCCATACTTACCATTGGGCCCGGAGATCCGTTCTCACCCGGGGAACCACTCTCACCCTGGAAAAATGATGCACAAGGTCAGTGTCTGGGACCCCATTCTTGGCCGCCAGCAAACTCCTAGGGAAGACGCCAAAAGCCCTGGTCATCTCAGCTCGCACTGACACAAACTTCAGTCCTGTGAGGGACAATGCCCTGAGCTCTCCAGGCCTGCTGTTGGCCCATCAGGATGTAGGGCTGGTGTTCCCAGCCAAGGCTGTTCTGAGGAGCTAGTTCCACTGAGCTCCACAGTGTCTCCCTGGCTAGGAAGAGGGGCTCCTCATTGTCTCCCTCCTCCCCATCCCATTGTACTTTCTGGCCTCTCACCTTCACACCAGGAGCACCCGCCTCTCCCTTAGCACCGTCCAGGCCTGGATAACCCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGGAAACCACGAGCACCCTGCAATCCAAAGTGGAGGTGTTCAGAGCACAGAGTAAAATAACAGTGGAAAGCTGCCCTGGGCTGCAGGAGGGCCTCCAGTTCCCTTGGGCCACCAGGGCGTTGTCTCGAATCCCCACACTTGGACAGCTCTTTCTGTAAAACCCAGACCACCCCTCCCCGTACCCCCCATTTTATGCAAAGTGGTATAAATAACAACTGCCCAGCCTCCCTCATGAGAGCCTGAGTGGAAATTACAAACATGGTCGTGATAAATATAGGGGCTACTGGCGTTTCATCTCAGAAGTGACCTCATTGAACTGGATGCACTGTGTTTAAGGCCACAGGGAGGGAGACGCTAGGAAAGATGCCTGAGGCTGGGAACGGTGGCGTTTACCTGAGGACCAGGCGGACCCCTTTCACCAGCTTTTCCAGGTTTTCCAGCTTCACCCTGAAGGGAGAGAGAGAGATATCCCAGCTTCCTCAGAGACGCAGTAGCATAGTGGGGGCACCCCAGAGGGCTTCCCTCCTTCCAGCCCTCCATGCCTTTGCCTACCGGCTCACTCATCTCCCTCACCTCCTTCAGACTCCACGTGCCTGGATGCCTTTCATGGGTCACCATTTATTCTTTTGGACACATGCATAGCCCATGGGCAAGCTCCTCTGTCCTCACCAGCCTCCAACTTCCCCTGAGAGGCTTTTTCTCTCCTCTCCTAGGTTCTGCTGACTGTATGTGCTCTCTCTAACCTCAAGAGACTTTTACTGTCTAATGCAATTCATAAAAATAGCACAAGAGTGCCAATTCTTGTCTCTTCATTTCGTTTGCATCCTTTGTAGACATCCTGACTCAGGCTGTGCTTTTTCTAACTCATTTACAATTAAGATAATGCTGGGTTGTTGAACGCTTCTTTCTTTGTTTTTCCTTCTCTACATCTTTCTGCCTTGTATTTTTTCTCTCCCTTCTCTCATTTCTCAATTTCCCTTCCTGGGGCTAATGATGTTTTAATTATTTGTCTTCCCCTTGGATCCAAAGCGGTCCCCAGGGAACTTGCCAGCACAGTCACAGTGGCCATATAGATAGGAGATGGCGTCAGGGTTTGGGACTGCCCAGTCTTGCTCCTCAAGATACCTCCACCCTGGGTGCCTCCCTGTCACTCCCCAAGCACACACCCTCTCCAGGCCCTTTCAAAGGAGGCAGCTCCTCATTTGTCTACTCGTGTATACTCACATCATCACCAGGCTTTCCAGGGGGACCAGGAGGACCACGGGGACCCATGGGACCCTACAAACAAAGGAAGATAGTTTAAGAGATGGTTATAGTGGGAAGACACCTAAGCAATGGACAAAACTTTGACATTGTAGTTTTGGAAGCCAGTTCTTCTATGAAGAAGAAAGATGGGAAGGTCAGAGCAAAGGTGCAGAGATCATAGTGGGACGCAGCAGATAGCACAGGCTGGGGTGACCCGGAAAGGGGGCTGTTAGGACAGAGTCCCTGGTGGTCCTTGCCACATTGGGCTGTCTGTCAGAGTTCCTCCACAGCTAGGAAGTGACATCCGAATTTCCTTGGGGCCACCGACTGTGGGAAAGAGCTGGGCAGAGCCTGGGAGGGACAGCAGCTGCGGTCCTAGTGGTCTATCATTAGAGGCTCCCCCAGAGAAGGGACAGGGCCGTGCTGGTACTCACAGAGACACCAGGTTCACCAGGTTCACCAGGATTGCCTTGAAATCCTTGAGGCCCCTAAAAAGTAAAATGAGGATACCAGGTCAATCCCTATAAACTGCTAAAACATCATAGTGCTTGGGAATCATCTGCGACACGATGGAGGCAAAAAGAATTGCAGATACTTACAGGAGCACCTGCAGGGCCTGGAGGTCCTCGAGGTCCCATGGGGCCCTGCATCGGAACAGAAAATGAGGGGTTTACTACACATGCTTCCTCAGTGGCCTCCAGTGTGCCATCTTCTCCCAGCCAACAGCCCGGGCAAAGGACAAGAAGTTACTCTGTGGGCAAGGGGCCTAGAGTGGCTGCTCCCTCTCATTTCCCACTCCCCACGCAACACTCTATTTTTATTTATAGGCACCATTTGGACAGAAAAGCTGGCCTTGCTTTCTCCTGGACAGCAGCCATGTTTACTAAAGGCTGAGTTTCATTTAGCATGTGCCAAGTCAGAGCTGCGGGCTGAGATTTCCTGCTGGAAGTCTGTGGATGCTGGAGAACAGTAGCTGCTGTCTGCATTCTTCAGTTCTCATTCCAAGAGCAATAGCAACTGGTCTTCTAACAGATCAGCCTATATGCATCTCCCCATCTTCATTCTTCTTAGTCACTCCAGCGCATCATTAAAAGTGGCATCCATTGCCATTAAAAACCAAATGCTTTGGGCTAGCTGAATGGGAGGTTACATAACTACGGAGGAGAGCCACTCTAAGCAATTATCTGTAAAGCAGAGGTTGTCAGACTCTCT
|
TAGGGTATTAAACACAGGAAGTGCCTATGGAATGGTGGCCCCTGGTACTATAGCATAACATCCCTCACAGCAGCAGCCAGCATAGAGCCCTGTGAGTTGATGCTCACCTGTTCCACTTTTCTAGGGCATTTGAGCAACCAGGAAGAACAGAGAGTAGCACGGTGGTGCTATAGCCAGCTAAGTCTGTCTGTAAACTCCAGCTGGATTGCCCAGGGAGTGGGTGGTGGTTGTTGAAGGGATTACCTGATAATCTGGACTGGTTAAGAGAATCATGCTTTCACCCATCGACCCTCCCATTCCTATCCTTCCTCCTTCAACTGTGCAGACTCAGCCTGGGAAGTTTTGATGGGCACACTGGGGGTGAATTCTTAAGGGATAACAATACTCCCTATGCCTCACAGGGTTGTTTCGAGGGTCAAGAGAAACAAACCTGTAAACTCTAAAGTGCTCGGCAAATGGTGGTGTTTGGCTTTGTCAATTACTCACCGCAGCGCCAGCAGGGCCAGTCCGTCCTCTTTCACCAGGCAGGCCACGAGGACCCTGGAACACACACCAGGACAGCCTAAGCATGAGTTGGCTTTACGGTGCTCAGGGTGACCATTTCTACCTGCAGGCCCTTTGCGGATACCAGAGGAGAGGGAGGATGCCCACACCCAGGAAAACAAGGACCTCCTGATGGTGCTGGCTCCTTGACTAGCCAGGATGCCTCAGATCACACCCAACAGTTTTCTCCACAGGCGGAACACACGAATGTTCCTGTTGCTACCTATTGGGAACCTTTGTTACAAGCACACCTTGCTCCTTGCAGTAGATGAGCTTGACAAAATGTTGAGACTCAACAGAATTTTTTTAAATGGGAGCATCTTTAGTGTGATAAAATGGGTATCTTAAGGAAATGTTGGTGAAATCTTGAACAAATCATCTGTCTAATACATTTTGCTTTTTGCTCACAATCAGATGAAATCTACAACACAGAATATGAACTTTGCACAAAGGGAGCTCTTTGCAGCCATCTGATAGTCTGAAGAGTCTTTGATAAACCTTCCTGGAGGGTGTCCATACTTACCATTGGGCCCGGAGATCCGTTCTCACCCGGGGAACCACTCTCACCCTGGAAAAATGATGCACAAGGTCAGTGTCTGGGACCCCATTCTTGGCCGCCAGCAAACTCCTAGGGAAGACGCCAAAAGCCCTGGTCATCTCAGCTCGCACTGACACAAACTTCAGTCCTGTGAGGGACAATGCCCTGAGCTCTCCAGGCCTGCTGTTGGCCCATCAGGATGTAGGGCTGGTGTTCCCAGCCAAGGCTGTTCTGAGGAGCTAGTTCCACTGAGCTCCACAGTGTCTCCCTGGCTAGGAAGAGGGGCTCCTCATTGTCTCCCTCCTCCCCATCCCATTGTACTTTCTGGCCTCTCACCTTCACACCAGGAGCACCCGCCTCTCCCTTAGCACCGTCCAGGCCTGGATAACCCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGGAAACCACGAGCACCCTGCAATCCAAAGTGGAGGTGTTCAGAGCACAGAGTAAAATAACAGTGGAAAGCTGCCCTGGGCTGCAGGAGGGCCTCCAGTTCCCTTGGGCCACCAGGGCGTTGTCTCGAATCCCCACACTTGGACAGCTCTTTCTGTAAAACCCAGACCACCCCTCCCCGTACCCCCCATTTTATGCAAAGTGGTATAAATAACAACTGCCCAGCCTCCCTCATGAGAGCCTGAGTGGAAATTACAAACATGGTCGTGATAAATATAGGGGCTACTGGCGTTTCATCTCAGAAGTGACCTCATTGAACTGGATGCACTGTGTTTAAGGCCACAGGGAGGGAGACGCTAGGAAAGATGCCTGAGGCTGGGAACGGTGGCGTTTACCTGAGGACCAGGCGGATCCCTTTCACCAGCTTTTCCAGGTTTTCCAGCTTCACCCTGAAGGGAGAGAGAGAGATATCCCAGCTTCCTCAGAGACGCAGTAGCATAGTGGGGGCACCCCAGAGGGCTTCCCTCCTTCCAGCCCTCCATGCCTTTGCCTACCGGCTCACTCATCTCCCTCACCTCCTTCAGACTCCACGTGCCTGGATGCCTTTCATGGGTCACCATTTATTCTTTTGGACACATGCATAGCCCATGGGCAAGCTCCTCTGTCCTCACCAGCCTCCAACTTCCCCTGAGAGGCTTTTTCTCTCCTCTCCTAGGTTCTGCTGACTGTATGTGCTCTCTCTAACCTCAAGAGACTTTTACTGTCTAATGCAATTCATAAAAATAGCACAAGAGTGCCAATTCTTGTCTCTTCATTTCGTTTGCATCCTTTGTAGACATCCTGACTCAGGCTGTGCTTTTTCTAACTCATTTACAATTAAGATAATGCTGGGTTGTTGAACGCTTCTTTCTTTGTTTTTCCTTCTCTACATCTTTCTGCCTTGTATTTTTTCTCTCCCTTCTCTCATTTCTCAATTTCCCTTCCTGGGGCTAATGATGTTTTAATTATTTGTCTTCCCCTTGGATCCAAAGCGGTCCCCAGGGAACTTGCCAGCACAGTCACAGTGGCCATATAGATAGGAGATGGCGTCAGGGTTTGGGACTGCCCAGTCTTGCTCCTCAAGATACCTCCACCCTGGGTGCCTCCCTGTCACTCCCCAAGCACACACCCTCTCCAGGCCCTTTCAAAGGAGGCAGCTCCTCATTTGTCTACTCGTGTATACTCACATCATCACCAGGCTTTCCAGGGGGACCAGGAGGACCACGGGGACCCATGGGACCCTACAAACAAAGGAAGATAGTTTAAGAGATGGTTATAGTGGGAAGACACCTAAGCAATGGACAAAACTTTGACATTGTAGTTTTGGAAGCCAGTTCTTCTATGAAGAAGAAAGATGGGAAGGTCAGAGCAAAGGTGCAGAGATCATAGTGGGACGCAGCAGATAGCACAGGCTGGGGTGACCCGGAAAGGGGGCTGTTAGGACAGAGTCCCTGGTGGTCCTTGCCACATTGGGCTGTCTGTCAGAGTTCCTCCACAGCTAGGAAGTGACATCCGAATTTCCTTGGGGCCACCGACTGTGGGAAAGAGCTGGGCAGAGCCTGGGAGGGACAGCAGCTGCGGTCCTAGTGGTCTATCATTAGAGGCTCCCCCAGAGAAGGGACAGGGCCGTGCTGGTACTCACAGAGACACCAGGTTCACCAGGTTCACCAGGATTGCCTTGAAATCCTTGAGGCCCCTAAAAAGTAAAATGAGGATACCAGGTCAATCCCTATAAACTGCTAAAACATCATAGTGCTTGGGAATCATCTGCGACACGATGGAGGCAAAAAGAATTGCAGATACTTACAGGAGCACCTGCAGGGCCTGGAGGTCCTCGAGGTCCCATGGGGCCCTGCATCGGAACAGAAAATGAGGGGTTTACTACACATGCTTCCTCAGTGGCCTCCAGTGTGCCATCTTCTCCCAGCCAACAGCCCGGGCAAAGGACAAGAAGTTACTCTGTGGGCAAGGGGCCTAGAGTGGCTGCTCCCTCTCATTTCCCACTCCCCACGCAACACTCTATTTTTATTTATAGGCACCATTTGGACAGAAAAGCTGGCCTTGCTTTCTCCTGGACAGCAGCCATGTTTACTAAAGGCTGAGTTTCATTTAGCATGTGCCAAGTCAGAGCTGCGGGCTGAGATTTCCTGCTGGAAGTCTGTGGATGCTGGAGAACAGTAGCTGCTGTCTGCATTCTTCAGTTCTCATTCCAAGAGCAATAGCAACTGGTCTTCTAACAGATCAGCCTATATGCATCTCCCCATCTTCATTCTTCTTAGTCACTCCAGCGCATCATTAAAAGTGGCATCCATTGCCATTAAAAACCAAATGCTTTGGGCTAGCTGAATGGGAGGTTACATAACTACGGAGGAGAGCCACTCTAAGCAATTATCTGTAAAGCAGAGGTTGTCAGACTCTCT
|
Task1_train_17502
|
This mutation occurs in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; Stickler syndrome type 1
|
AGAATTTTTTTAAATGGGAGCATCTTTAGTGTGATAAAATGGGTATCTTAAGGAAATGTTGGTGAAATCTTGAACAAATCATCTGTCTAATACATTTTGCTTTTTGCTCACAATCAGATGAAATCTACAACACAGAATATGAACTTTGCACAAAGGGAGCTCTTTGCAGCCATCTGATAGTCTGAAGAGTCTTTGATAAACCTTCCTGGAGGGTGTCCATACTTACCATTGGGCCCGGAGATCCGTTCTCACCCGGGGAACCACTCTCACCCTGGAAAAATGATGCACAAGGTCAGTGTCTGGGACCCCATTCTTGGCCGCCAGCAAACTCCTAGGGAAGACGCCAAAAGCCCTGGTCATCTCAGCTCGCACTGACACAAACTTCAGTCCTGTGAGGGACAATGCCCTGAGCTCTCCAGGCCTGCTGTTGGCCCATCAGGATGTAGGGCTGGTGTTCCCAGCCAAGGCTGTTCTGAGGAGCTAGTTCCACTGAGCTCCACAGTGTCTCCCTGGCTAGGAAGAGGGGCTCCTCATTGTCTCCCTCCTCCCCATCCCATTGTACTTTCTGGCCTCTCACCTTCACACCAGGAGCACCCGCCTCTCCCTTAGCACCGTCCAGGCCTGGATAACCCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGGAAACCACGAGCACCCTGCAATCCAAAGTGGAGGTGTTCAGAGCACAGAGTAAAATAACAGTGGAAAGCTGCCCTGGGCTGCAGGAGGGCCTCCAGTTCCCTTGGGCCACCAGGGCGTTGTCTCGAATCCCCACACTTGGACAGCTCTTTCTGTAAAACCCAGACCACCCCTCCCCGTACCCCCCATTTTATGCAAAGTGGTATAAATAACAACTGCCCAGCCTCCCTCATGAGAGCCTGAGTGGAAATTACAAACATGGTCGTGATAAATATAGGGGCTACTGGCGTTTCATCTCAGAAGTGACCTCATTGAACTGGATGCACTGTGTTTAAGGCCACAGGGAGGGAGACGCTAGGAAAGATGCCTGAGGCTGGGAACGGTGGCGTTTACCTGAGGACCAGGCGGACCCCTTTCACCAGCTTTTCCAGGTTTTCCAGCTTCACCCTGAAGGGAGAGAGAGAGATATCCCAGCTTCCTCAGAGACGCAGTAGCATAGTGGGGGCACCCCAGAGGGCTTCCCTCCTTCCAGCCCTCCATGCCTTTGCCTACCGGCTCACTCATCTCCCTCACCTCCTTCAGACTCCACGTGCCTGGATGCCTTTCATGGGTCACCATTTATTCTTTTGGACACATGCATAGCCCATGGGCAAGCTCCTCTGTCCTCACCAGCCTCCAACTTCCCCTGAGAGGCTTTTTCTCTCCTCTCCTAGGTTCTGCTGACTGTATGTGCTCTCTCTAACCTCAAGAGACTTTTACTGTCTAATGCAATTCATAAAAATAGCACAAGAGTGCCAATTCTTGTCTCTTCATTTCGTTTGCATCCTTTGTAGACATCCTGACTCAGGCTGTGCTTTTTCTAACTCATTTACAATTAAGATAATGCTGGGTTGTTGAACGCTTCTTTCTTTGTTTTTCCTTCTCTACATCTTTCTGCCTTGTATTTTTTCTCTCCCTTCTCTCATTTCTCAATTTCCCTTCCTGGGGCTAATGATGTTTTAATTATTTGTCTTCCCCTTGGATCCAAAGCGGTCCCCAGGGAACTTGCCAGCACAGTCACAGTGGCCATATAGATAGGAGATGGCGTCAGGGTTTGGGACTGCCCAGTCTTGCTCCTCAAGATACCTCCACCCTGGGTGCCTCCCTGTCACTCCCCAAGCACACACCCTCTCCAGGCCCTTTCAAAGGAGGCAGCTCCTCATTTGTCTACTCGTGTATACTCACATCATCACCAGGCTTTCCAGGGGGACCAGGAGGACCACGGGGACCCATGGGACCCTACAAACAAAGGAAGATAGTTTAAGAGATGGTTATAGTGGGAAGACACCTAAGCAATGGACAAAACTTTGACATTGTAGTTTTGGAAGCCAGTTCTTCTATGAAGAAGAAAGATGGGAAGGTCAGAGCAAAGGTGCAGAGATCATAGTGGGACGCAGCAGATAGCACAGGCTGGGGTGACCCGGAAAGGGGGCTGTTAGGACAGAGTCCCTGGTGGTCCTTGCCACATTGGGCTGTCTGTCAGAGTTCCTCCACAGCTAGGAAGTGACATCCGAATTTCCTTGGGGCCACCGACTGTGGGAAAGAGCTGGGCAGAGCCTGGGAGGGACAGCAGCTGCGGTCCTAGTGGTCTATCATTAGAGGCTCCCCCAGAGAAGGGACAGGGCCGTGCTGGTACTCACAGAGACACCAGGTTCACCAGGTTCACCAGGATTGCCTTGAAATCCTTGAGGCCCCTAAAAAGTAAAATGAGGATACCAGGTCAATCCCTATAAACTGCTAAAACATCATAGTGCTTGGGAATCATCTGCGACACGATGGAGGCAAAAAGAATTGCAGATACTTACAGGAGCACCTGCAGGGCCTGGAGGTCCTCGAGGTCCCATGGGGCCCTGCATCGGAACAGAAAATGAGGGGTTTACTACACATGCTTCCTCAGTGGCCTCCAGTGTGCCATCTTCTCCCAGCCAACAGCCCGGGCAAAGGACAAGAAGTTACTCTGTGGGCAAGGGGCCTAGAGTGGCTGCTCCCTCTCATTTCCCACTCCCCACGCAACACTCTATTTTTATTTATAGGCACCATTTGGACAGAAAAGCTGGCCTTGCTTTCTCCTGGACAGCAGCCATGTTTACTAAAGGCTGAGTTTCATTTAGCATGTGCCAAGTCAGAGCTGCGGGCTGAGATTTCCTGCTGGAAGTCTGTGGATGCTGGAGAACAGTAGCTGCTGTCTGCATTCTTCAGTTCTCATTCCAAGAGCAATAGCAACTGGTCTTCTAACAGATCAGCCTATATGCATCTCCCCATCTTCATTCTTCTTAGTCACTCCAGCGCATCATTAAAAGTGGCATCCATTGCCATTAAAAACCAAATGCTTTGGGCTAGCTGAATGGGAGGTTACATAACTACGGAGGAGAGCCACTCTAAGCAATTATCTGTAAAGCAGAGGTTGTCAGACTCTCTGGCTCTGCTAAGGGCCACCTCCTGCCATTTTGGCTGCAAAGAACTAGTGTCTTTTCTTACCATTGGTCCTTGCATTACTCCCAACTGGGCGCCACCAGCCTTTTCATCAAATCCTCCAGCCATCTGGGCAGCAAAGTTCTGCAAAGAAACCCAACAACGTTAGGAGGTTGAAAGGCACTAGGTCTTCCCTACTTGGCTAGGTAAGCTCTATATGGATACAAAGAACTCTACTGAGATAAACTCTGATTGTTGGAGACTAACCTATCATTGATCAGAATTACCACTGATGCCTGGAAAGTAATTTTGGGAATGGATTATTAGATGACAGTGGCAAAATCATTTCACTGGAAGGGAAAGTGTTATTTGAGGAAGTATCAGTTCCTTGCATTTCATTTTATAAAATTATTTTTATGCTCTAAAATATGACAGATGTTATTTAACGTATATGGAGAAACATAACCAAACCTTCTAAGGGTGTTCTTTATTCTTTAAGACTTTAGTGCCCAGCAAAAGACTAAAATCAACAGTCTTGGAATATTTCAGCAAGAGATGTAGTAGGCATCTGTGATCCCATTTGAGTTTAAGAATTTAAAATACAGCAAACATCAAAATAGCAAACCTGCAAAAACTAGGCAATCATATAATTTGTTGATTGGTTTGATTCCAGAATTGACTTTAGCCACACACCTTCACTCAGTGGAGCTCTTTCATGAGAGTGAATAGTTGCTTGGAATGTACTTGGCAAGAACCAAGGATAAATGTCTTCCAAGGACAGTGGTCACTCGTCTTCCAGGGAAATACAAGTGCCCAGTCATCCTTCCTCCTATCCCTTACACCCAC
|
AGAATTTTTTTAAATGGGAGCATCTTTAGTGTGATAAAATGGGTATCTTAAGGAAATGTTGGTGAAATCTTGAACAAATCATCTGTCTAATACATTTTGCTTTTTGCTCACAATCAGATGAAATCTACAACACAGAATATGAACTTTGCACAAAGGGAGCTCTTTGCAGCCATCTGATAGTCTGAAGAGTCTTTGATAAACCTTCCTGGAGGGTGTCCATACTTACCATTGGGCCCGGAGATCCGTTCTCACCCGGGGAACCACTCTCACCCTGGAAAAATGATGCACAAGGTCAGTGTCTGGGACCCCATTCTTGGCCGCCAGCAAACTCCTAGGGAAGACGCCAAAAGCCCTGGTCATCTCAGCTCGCACTGACACAAACTTCAGTCCTGTGAGGGACAATGCCCTGAGCTCTCCAGGCCTGCTGTTGGCCCATCAGGATGTAGGGCTGGTGTTCCCAGCCAAGGCTGTTCTGAGGAGCTAGTTCCACTGAGCTCCACAGTGTCTCCCTGGCTAGGAAGAGGGGCTCCTCATTGTCTCCCTCCTCCCCATCCCATTGTACTTTCTGGCCTCTCACCTTCACACCAGGAGCACCCGCCTCTCCCTTAGCACCGTCCAGGCCTGGATAACCCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGGAAACCACGAGCACCCTGCAATCCAAAGTGGAGGTGTTCAGAGCACAGAGTAAAATAACAGTGGAAAGCTGCCCTGGGCTGCAGGAGGGCCTCCAGTTCCCTTGGGCCACCAGGGCGTTGTCTCGAATCCCCACACTTGGACAGCTCTTTCTGTAAAACCCAGACCACCCCTCCCCGTACCCCCCATTTTATGCAAAGTGGTATAAATAACAACTGCCCAGCCTCCCTCATGAGAGCCTGAGTGGAAATTACAAACATGGTCGTGATAAATATAGGGGCTACTGGCGTTTCATCTCAGAAGTGACCTCATTGAACTGGATGCACTGTGTTTAAGGCCACAGGGAGGGAGACGCTAGGAAAGATGCCTGAGGCTGGGAACGGTGGCGTTTACCTGAGGACCAGGCGGACCCCTTTCACCAGCTTTTCCAGGTTTTCCAGCTTCACCCTGAAGGGAGAGAGAGAGATATCCCAGCTTCCTCAGAGACGCAGTAGCATAGTGGGGGCACCCCAGAGGGCTTCCCTCCTTCCAGCCCTCCATGCCTTTGCCTACCGGCTCACTCATCTCCCTCACCTCCTTCAGACTCCACGTGCCTGGATGCCTTTCATGGGTCACCATTTATTCTTTTGGACACATGCATAGCCCATGGGCAAGCTCCTCTGTCCTCACCAGCCTCCAACTTCCCCTGAGAGGCTTTTTCTCTCCTCTCCTAGGTTCTGCTGACTGTATGTGCTCTCTCTAACCTCAAGAGACTTTTACTGTCTAATGCAATTCATAAAAATAGCACAAGAGTGCCAATTCTTGTCTCTTCATTTCGTTTGCATCCTTTGTAGACATCCTGACTCAGGCTGTGCTTTTTCTAACTCATTTACAATTAAGATAATGCTGGGTTGTTGAACGCTTCTTTCTTTGTTTTTCCTTCTCTACATCTTTCTGCCTTGTATTTTTTCTCTCCCTTCTCTCATTTCTCAATTTCCCTTCCTGGGGCTAATGATGTTTTAATTATTTGTCTTCCCCTTGGATCCAAAGCGGTCCCCAGGGAACTTGCCAGCACAGTCACAGTGGCCATATAGATAGGAGATGGCGTCAGGGTTTGGGACTGCCCAGTCTTGCTCCTCAAGATACCTCCACCCTGGGTGCCTCCCTGTCACTCCCCAAGCACACACCCTCTCCAGGCCCTTTCAAAGGAGGCAGCTCCTCATTTGTCTACTCGTGTATACTCACATCATCACCAGGCTTTCCAGGGGGAACAGGAGGACCACGGGGACCCATGGGACCCTACAAACAAAGGAAGATAGTTTAAGAGATGGTTATAGTGGGAAGACACCTAAGCAATGGACAAAACTTTGACATTGTAGTTTTGGAAGCCAGTTCTTCTATGAAGAAGAAAGATGGGAAGGTCAGAGCAAAGGTGCAGAGATCATAGTGGGACGCAGCAGATAGCACAGGCTGGGGTGACCCGGAAAGGGGGCTGTTAGGACAGAGTCCCTGGTGGTCCTTGCCACATTGGGCTGTCTGTCAGAGTTCCTCCACAGCTAGGAAGTGACATCCGAATTTCCTTGGGGCCACCGACTGTGGGAAAGAGCTGGGCAGAGCCTGGGAGGGACAGCAGCTGCGGTCCTAGTGGTCTATCATTAGAGGCTCCCCCAGAGAAGGGACAGGGCCGTGCTGGTACTCACAGAGACACCAGGTTCACCAGGTTCACCAGGATTGCCTTGAAATCCTTGAGGCCCCTAAAAAGTAAAATGAGGATACCAGGTCAATCCCTATAAACTGCTAAAACATCATAGTGCTTGGGAATCATCTGCGACACGATGGAGGCAAAAAGAATTGCAGATACTTACAGGAGCACCTGCAGGGCCTGGAGGTCCTCGAGGTCCCATGGGGCCCTGCATCGGAACAGAAAATGAGGGGTTTACTACACATGCTTCCTCAGTGGCCTCCAGTGTGCCATCTTCTCCCAGCCAACAGCCCGGGCAAAGGACAAGAAGTTACTCTGTGGGCAAGGGGCCTAGAGTGGCTGCTCCCTCTCATTTCCCACTCCCCACGCAACACTCTATTTTTATTTATAGGCACCATTTGGACAGAAAAGCTGGCCTTGCTTTCTCCTGGACAGCAGCCATGTTTACTAAAGGCTGAGTTTCATTTAGCATGTGCCAAGTCAGAGCTGCGGGCTGAGATTTCCTGCTGGAAGTCTGTGGATGCTGGAGAACAGTAGCTGCTGTCTGCATTCTTCAGTTCTCATTCCAAGAGCAATAGCAACTGGTCTTCTAACAGATCAGCCTATATGCATCTCCCCATCTTCATTCTTCTTAGTCACTCCAGCGCATCATTAAAAGTGGCATCCATTGCCATTAAAAACCAAATGCTTTGGGCTAGCTGAATGGGAGGTTACATAACTACGGAGGAGAGCCACTCTAAGCAATTATCTGTAAAGCAGAGGTTGTCAGACTCTCTGGCTCTGCTAAGGGCCACCTCCTGCCATTTTGGCTGCAAAGAACTAGTGTCTTTTCTTACCATTGGTCCTTGCATTACTCCCAACTGGGCGCCACCAGCCTTTTCATCAAATCCTCCAGCCATCTGGGCAGCAAAGTTCTGCAAAGAAACCCAACAACGTTAGGAGGTTGAAAGGCACTAGGTCTTCCCTACTTGGCTAGGTAAGCTCTATATGGATACAAAGAACTCTACTGAGATAAACTCTGATTGTTGGAGACTAACCTATCATTGATCAGAATTACCACTGATGCCTGGAAAGTAATTTTGGGAATGGATTATTAGATGACAGTGGCAAAATCATTTCACTGGAAGGGAAAGTGTTATTTGAGGAAGTATCAGTTCCTTGCATTTCATTTTATAAAATTATTTTTATGCTCTAAAATATGACAGATGTTATTTAACGTATATGGAGAAACATAACCAAACCTTCTAAGGGTGTTCTTTATTCTTTAAGACTTTAGTGCCCAGCAAAAGACTAAAATCAACAGTCTTGGAATATTTCAGCAAGAGATGTAGTAGGCATCTGTGATCCCATTTGAGTTTAAGAATTTAAAATACAGCAAACATCAAAATAGCAAACCTGCAAAAACTAGGCAATCATATAATTTGTTGATTGGTTTGATTCCAGAATTGACTTTAGCCACACACCTTCACTCAGTGGAGCTCTTTCATGAGAGTGAATAGTTGCTTGGAATGTACTTGGCAAGAACCAAGGATAAATGTCTTCCAAGGACAGTGGTCACTCGTCTTCCAGGGAAATACAAGTGCCCAGTCATCCTTCCTCCTATCCCTTACACCCAC
|
Task1_train_17503
|
A sequence alteration has been identified in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it disease-inducing or harmless?
|
Pathogenic; not provided
|
AGCATCTTTAGTGTGATAAAATGGGTATCTTAAGGAAATGTTGGTGAAATCTTGAACAAATCATCTGTCTAATACATTTTGCTTTTTGCTCACAATCAGATGAAATCTACAACACAGAATATGAACTTTGCACAAAGGGAGCTCTTTGCAGCCATCTGATAGTCTGAAGAGTCTTTGATAAACCTTCCTGGAGGGTGTCCATACTTACCATTGGGCCCGGAGATCCGTTCTCACCCGGGGAACCACTCTCACCCTGGAAAAATGATGCACAAGGTCAGTGTCTGGGACCCCATTCTTGGCCGCCAGCAAACTCCTAGGGAAGACGCCAAAAGCCCTGGTCATCTCAGCTCGCACTGACACAAACTTCAGTCCTGTGAGGGACAATGCCCTGAGCTCTCCAGGCCTGCTGTTGGCCCATCAGGATGTAGGGCTGGTGTTCCCAGCCAAGGCTGTTCTGAGGAGCTAGTTCCACTGAGCTCCACAGTGTCTCCCTGGCTAGGAAGAGGGGCTCCTCATTGTCTCCCTCCTCCCCATCCCATTGTACTTTCTGGCCTCTCACCTTCACACCAGGAGCACCCGCCTCTCCCTTAGCACCGTCCAGGCCTGGATAACCCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGGAAACCACGAGCACCCTGCAATCCAAAGTGGAGGTGTTCAGAGCACAGAGTAAAATAACAGTGGAAAGCTGCCCTGGGCTGCAGGAGGGCCTCCAGTTCCCTTGGGCCACCAGGGCGTTGTCTCGAATCCCCACACTTGGACAGCTCTTTCTGTAAAACCCAGACCACCCCTCCCCGTACCCCCCATTTTATGCAAAGTGGTATAAATAACAACTGCCCAGCCTCCCTCATGAGAGCCTGAGTGGAAATTACAAACATGGTCGTGATAAATATAGGGGCTACTGGCGTTTCATCTCAGAAGTGACCTCATTGAACTGGATGCACTGTGTTTAAGGCCACAGGGAGGGAGACGCTAGGAAAGATGCCTGAGGCTGGGAACGGTGGCGTTTACCTGAGGACCAGGCGGACCCCTTTCACCAGCTTTTCCAGGTTTTCCAGCTTCACCCTGAAGGGAGAGAGAGAGATATCCCAGCTTCCTCAGAGACGCAGTAGCATAGTGGGGGCACCCCAGAGGGCTTCCCTCCTTCCAGCCCTCCATGCCTTTGCCTACCGGCTCACTCATCTCCCTCACCTCCTTCAGACTCCACGTGCCTGGATGCCTTTCATGGGTCACCATTTATTCTTTTGGACACATGCATAGCCCATGGGCAAGCTCCTCTGTCCTCACCAGCCTCCAACTTCCCCTGAGAGGCTTTTTCTCTCCTCTCCTAGGTTCTGCTGACTGTATGTGCTCTCTCTAACCTCAAGAGACTTTTACTGTCTAATGCAATTCATAAAAATAGCACAAGAGTGCCAATTCTTGTCTCTTCATTTCGTTTGCATCCTTTGTAGACATCCTGACTCAGGCTGTGCTTTTTCTAACTCATTTACAATTAAGATAATGCTGGGTTGTTGAACGCTTCTTTCTTTGTTTTTCCTTCTCTACATCTTTCTGCCTTGTATTTTTTCTCTCCCTTCTCTCATTTCTCAATTTCCCTTCCTGGGGCTAATGATGTTTTAATTATTTGTCTTCCCCTTGGATCCAAAGCGGTCCCCAGGGAACTTGCCAGCACAGTCACAGTGGCCATATAGATAGGAGATGGCGTCAGGGTTTGGGACTGCCCAGTCTTGCTCCTCAAGATACCTCCACCCTGGGTGCCTCCCTGTCACTCCCCAAGCACACACCCTCTCCAGGCCCTTTCAAAGGAGGCAGCTCCTCATTTGTCTACTCGTGTATACTCACATCATCACCAGGCTTTCCAGGGGGACCAGGAGGACCACGGGGACCCATGGGACCCTACAAACAAAGGAAGATAGTTTAAGAGATGGTTATAGTGGGAAGACACCTAAGCAATGGACAAAACTTTGACATTGTAGTTTTGGAAGCCAGTTCTTCTATGAAGAAGAAAGATGGGAAGGTCAGAGCAAAGGTGCAGAGATCATAGTGGGACGCAGCAGATAGCACAGGCTGGGGTGACCCGGAAAGGGGGCTGTTAGGACAGAGTCCCTGGTGGTCCTTGCCACATTGGGCTGTCTGTCAGAGTTCCTCCACAGCTAGGAAGTGACATCCGAATTTCCTTGGGGCCACCGACTGTGGGAAAGAGCTGGGCAGAGCCTGGGAGGGACAGCAGCTGCGGTCCTAGTGGTCTATCATTAGAGGCTCCCCCAGAGAAGGGACAGGGCCGTGCTGGTACTCACAGAGACACCAGGTTCACCAGGTTCACCAGGATTGCCTTGAAATCCTTGAGGCCCCTAAAAAGTAAAATGAGGATACCAGGTCAATCCCTATAAACTGCTAAAACATCATAGTGCTTGGGAATCATCTGCGACACGATGGAGGCAAAAAGAATTGCAGATACTTACAGGAGCACCTGCAGGGCCTGGAGGTCCTCGAGGTCCCATGGGGCCCTGCATCGGAACAGAAAATGAGGGGTTTACTACACATGCTTCCTCAGTGGCCTCCAGTGTGCCATCTTCTCCCAGCCAACAGCCCGGGCAAAGGACAAGAAGTTACTCTGTGGGCAAGGGGCCTAGAGTGGCTGCTCCCTCTCATTTCCCACTCCCCACGCAACACTCTATTTTTATTTATAGGCACCATTTGGACAGAAAAGCTGGCCTTGCTTTCTCCTGGACAGCAGCCATGTTTACTAAAGGCTGAGTTTCATTTAGCATGTGCCAAGTCAGAGCTGCGGGCTGAGATTTCCTGCTGGAAGTCTGTGGATGCTGGAGAACAGTAGCTGCTGTCTGCATTCTTCAGTTCTCATTCCAAGAGCAATAGCAACTGGTCTTCTAACAGATCAGCCTATATGCATCTCCCCATCTTCATTCTTCTTAGTCACTCCAGCGCATCATTAAAAGTGGCATCCATTGCCATTAAAAACCAAATGCTTTGGGCTAGCTGAATGGGAGGTTACATAACTACGGAGGAGAGCCACTCTAAGCAATTATCTGTAAAGCAGAGGTTGTCAGACTCTCTGGCTCTGCTAAGGGCCACCTCCTGCCATTTTGGCTGCAAAGAACTAGTGTCTTTTCTTACCATTGGTCCTTGCATTACTCCCAACTGGGCGCCACCAGCCTTTTCATCAAATCCTCCAGCCATCTGGGCAGCAAAGTTCTGCAAAGAAACCCAACAACGTTAGGAGGTTGAAAGGCACTAGGTCTTCCCTACTTGGCTAGGTAAGCTCTATATGGATACAAAGAACTCTACTGAGATAAACTCTGATTGTTGGAGACTAACCTATCATTGATCAGAATTACCACTGATGCCTGGAAAGTAATTTTGGGAATGGATTATTAGATGACAGTGGCAAAATCATTTCACTGGAAGGGAAAGTGTTATTTGAGGAAGTATCAGTTCCTTGCATTTCATTTTATAAAATTATTTTTATGCTCTAAAATATGACAGATGTTATTTAACGTATATGGAGAAACATAACCAAACCTTCTAAGGGTGTTCTTTATTCTTTAAGACTTTAGTGCCCAGCAAAAGACTAAAATCAACAGTCTTGGAATATTTCAGCAAGAGATGTAGTAGGCATCTGTGATCCCATTTGAGTTTAAGAATTTAAAATACAGCAAACATCAAAATAGCAAACCTGCAAAAACTAGGCAATCATATAATTTGTTGATTGGTTTGATTCCAGAATTGACTTTAGCCACACACCTTCACTCAGTGGAGCTCTTTCATGAGAGTGAATAGTTGCTTGGAATGTACTTGGCAAGAACCAAGGATAAATGTCTTCCAAGGACAGTGGTCACTCGTCTTCCAGGGAAATACAAGTGCCCAGTCATCCTTCCTCCTATCCCTTACACCCACCCCCCAGCATCAACTACG
|
AGCATCTTTAGTGTGATAAAATGGGTATCTTAAGGAAATGTTGGTGAAATCTTGAACAAATCATCTGTCTAATACATTTTGCTTTTTGCTCACAATCAGATGAAATCTACAACACAGAATATGAACTTTGCACAAAGGGAGCTCTTTGCAGCCATCTGATAGTCTGAAGAGTCTTTGATAAACCTTCCTGGAGGGTGTCCATACTTACCATTGGGCCCGGAGATCCGTTCTCACCCGGGGAACCACTCTCACCCTGGAAAAATGATGCACAAGGTCAGTGTCTGGGACCCCATTCTTGGCCGCCAGCAAACTCCTAGGGAAGACGCCAAAAGCCCTGGTCATCTCAGCTCGCACTGACACAAACTTCAGTCCTGTGAGGGACAATGCCCTGAGCTCTCCAGGCCTGCTGTTGGCCCATCAGGATGTAGGGCTGGTGTTCCCAGCCAAGGCTGTTCTGAGGAGCTAGTTCCACTGAGCTCCACAGTGTCTCCCTGGCTAGGAAGAGGGGCTCCTCATTGTCTCCCTCCTCCCCATCCCATTGTACTTTCTGGCCTCTCACCTTCACACCAGGAGCACCCGCCTCTCCCTTAGCACCGTCCAGGCCTGGATAACCCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGGAAACCACGAGCACCCTGCAATCCAAAGTGGAGGTGTTCAGAGCACAGAGTAAAATAACAGTGGAAAGCTGCCCTGGGCTGCAGGAGGGCCTCCAGTTCCCTTGGGCCACCAGGGCGTTGTCTCGAATCCCCACACTTGGACAGCTCTTTCTGTAAAACCCAGACCACCCCTCCCCGTACCCCCCATTTTATGCAAAGTGGTATAAATAACAACTGCCCAGCCTCCCTCATGAGAGCCTGAGTGGAAATTACAAACATGGTCGTGATAAATATAGGGGCTACTGGCGTTTCATCTCAGAAGTGACCTCATTGAACTGGATGCACTGTGTTTAAGGCCACAGGGAGGGAGACGCTAGGAAAGATGCCTGAGGCTGGGAACGGTGGCGTTTACCTGAGGACCAGGCGGACCCCTTTCACCAGCTTTTCCAGGTTTTCCAGCTTCACCCTGAAGGGAGAGAGAGAGATATCCCAGCTTCCTCAGAGACGCAGTAGCATAGTGGGGGCACCCCAGAGGGCTTCCCTCCTTCCAGCCCTCCATGCCTTTGCCTACCGGCTCACTCATCTCCCTCACCTCCTTCAGACTCCACGTGCCTGGATGCCTTTCATGGGTCACCATTTATTCTTTTGGACACATGCATAGCCCATGGGCAAGCTCCTCTGTCCTCACCAGCCTCCAACTTCCCCTGAGAGGCTTTTTCTCTCCTCTCCTAGGTTCTGCTGACTGTATGTGCTCTCTCTAACCTCAAGAGACTTTTACTGTCTAATGCAATTCATAAAAATAGCACAAGAGTGCCAATTCTTGTCTCTTCATTTCGTTTGCATCCTTTGTAGACATCCTGACTCAGGCTGTGCTTTTTCTAACTCATTTACAATTAAGATAATGCTGGGTTGTTGAACGCTTCTTTCTTTGTTTTTCCTTCTCTACATCTTTCTGCCTTGTATTTTTTCTCTCCCTTCTCTCATTTCTCAATTTCCCTTCCTGGGGCTAATGATGTTTTAATTATTTGTCTTCCCCTTGGATCCAAAGCGGTCCCCAGGGAACTTGCCAGCACAGTCACAGTGGCCATATAGATAGGAGATGGCGTCAGGGTTTGGGACTGCCCAGTCTTGCTCCTCAAGATACCTCCACCCTGGGTGCCTCCCTGTCACTCCCCAAGCACACACCCTCTCCAGGCCCTTTCAAAGGAGGCAGCTCCTCATTTGTCTACTCGTGTATACTCACATCATCACCAGGCTTTCCAGGGGGACCAGGAGGACCACGGGGATCCATGGGACCCTACAAACAAAGGAAGATAGTTTAAGAGATGGTTATAGTGGGAAGACACCTAAGCAATGGACAAAACTTTGACATTGTAGTTTTGGAAGCCAGTTCTTCTATGAAGAAGAAAGATGGGAAGGTCAGAGCAAAGGTGCAGAGATCATAGTGGGACGCAGCAGATAGCACAGGCTGGGGTGACCCGGAAAGGGGGCTGTTAGGACAGAGTCCCTGGTGGTCCTTGCCACATTGGGCTGTCTGTCAGAGTTCCTCCACAGCTAGGAAGTGACATCCGAATTTCCTTGGGGCCACCGACTGTGGGAAAGAGCTGGGCAGAGCCTGGGAGGGACAGCAGCTGCGGTCCTAGTGGTCTATCATTAGAGGCTCCCCCAGAGAAGGGACAGGGCCGTGCTGGTACTCACAGAGACACCAGGTTCACCAGGTTCACCAGGATTGCCTTGAAATCCTTGAGGCCCCTAAAAAGTAAAATGAGGATACCAGGTCAATCCCTATAAACTGCTAAAACATCATAGTGCTTGGGAATCATCTGCGACACGATGGAGGCAAAAAGAATTGCAGATACTTACAGGAGCACCTGCAGGGCCTGGAGGTCCTCGAGGTCCCATGGGGCCCTGCATCGGAACAGAAAATGAGGGGTTTACTACACATGCTTCCTCAGTGGCCTCCAGTGTGCCATCTTCTCCCAGCCAACAGCCCGGGCAAAGGACAAGAAGTTACTCTGTGGGCAAGGGGCCTAGAGTGGCTGCTCCCTCTCATTTCCCACTCCCCACGCAACACTCTATTTTTATTTATAGGCACCATTTGGACAGAAAAGCTGGCCTTGCTTTCTCCTGGACAGCAGCCATGTTTACTAAAGGCTGAGTTTCATTTAGCATGTGCCAAGTCAGAGCTGCGGGCTGAGATTTCCTGCTGGAAGTCTGTGGATGCTGGAGAACAGTAGCTGCTGTCTGCATTCTTCAGTTCTCATTCCAAGAGCAATAGCAACTGGTCTTCTAACAGATCAGCCTATATGCATCTCCCCATCTTCATTCTTCTTAGTCACTCCAGCGCATCATTAAAAGTGGCATCCATTGCCATTAAAAACCAAATGCTTTGGGCTAGCTGAATGGGAGGTTACATAACTACGGAGGAGAGCCACTCTAAGCAATTATCTGTAAAGCAGAGGTTGTCAGACTCTCTGGCTCTGCTAAGGGCCACCTCCTGCCATTTTGGCTGCAAAGAACTAGTGTCTTTTCTTACCATTGGTCCTTGCATTACTCCCAACTGGGCGCCACCAGCCTTTTCATCAAATCCTCCAGCCATCTGGGCAGCAAAGTTCTGCAAAGAAACCCAACAACGTTAGGAGGTTGAAAGGCACTAGGTCTTCCCTACTTGGCTAGGTAAGCTCTATATGGATACAAAGAACTCTACTGAGATAAACTCTGATTGTTGGAGACTAACCTATCATTGATCAGAATTACCACTGATGCCTGGAAAGTAATTTTGGGAATGGATTATTAGATGACAGTGGCAAAATCATTTCACTGGAAGGGAAAGTGTTATTTGAGGAAGTATCAGTTCCTTGCATTTCATTTTATAAAATTATTTTTATGCTCTAAAATATGACAGATGTTATTTAACGTATATGGAGAAACATAACCAAACCTTCTAAGGGTGTTCTTTATTCTTTAAGACTTTAGTGCCCAGCAAAAGACTAAAATCAACAGTCTTGGAATATTTCAGCAAGAGATGTAGTAGGCATCTGTGATCCCATTTGAGTTTAAGAATTTAAAATACAGCAAACATCAAAATAGCAAACCTGCAAAAACTAGGCAATCATATAATTTGTTGATTGGTTTGATTCCAGAATTGACTTTAGCCACACACCTTCACTCAGTGGAGCTCTTTCATGAGAGTGAATAGTTGCTTGGAATGTACTTGGCAAGAACCAAGGATAAATGTCTTCCAAGGACAGTGGTCACTCGTCTTCCAGGGAAATACAAGTGCCCAGTCATCCTTCCTCCTATCCCTTACACCCACCCCCCAGCATCAACTACG
|
Task1_train_17504
|
A variant on Chromosome 12 in gene COL2A1 (collagen type II alpha 1 chain) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
|
Pathogenic; not provided
|
GAGGAGCTAGTTCCACTGAGCTCCACAGTGTCTCCCTGGCTAGGAAGAGGGGCTCCTCATTGTCTCCCTCCTCCCCATCCCATTGTACTTTCTGGCCTCTCACCTTCACACCAGGAGCACCCGCCTCTCCCTTAGCACCGTCCAGGCCTGGATAACCCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGGAAACCACGAGCACCCTGCAATCCAAAGTGGAGGTGTTCAGAGCACAGAGTAAAATAACAGTGGAAAGCTGCCCTGGGCTGCAGGAGGGCCTCCAGTTCCCTTGGGCCACCAGGGCGTTGTCTCGAATCCCCACACTTGGACAGCTCTTTCTGTAAAACCCAGACCACCCCTCCCCGTACCCCCCATTTTATGCAAAGTGGTATAAATAACAACTGCCCAGCCTCCCTCATGAGAGCCTGAGTGGAAATTACAAACATGGTCGTGATAAATATAGGGGCTACTGGCGTTTCATCTCAGAAGTGACCTCATTGAACTGGATGCACTGTGTTTAAGGCCACAGGGAGGGAGACGCTAGGAAAGATGCCTGAGGCTGGGAACGGTGGCGTTTACCTGAGGACCAGGCGGACCCCTTTCACCAGCTTTTCCAGGTTTTCCAGCTTCACCCTGAAGGGAGAGAGAGAGATATCCCAGCTTCCTCAGAGACGCAGTAGCATAGTGGGGGCACCCCAGAGGGCTTCCCTCCTTCCAGCCCTCCATGCCTTTGCCTACCGGCTCACTCATCTCCCTCACCTCCTTCAGACTCCACGTGCCTGGATGCCTTTCATGGGTCACCATTTATTCTTTTGGACACATGCATAGCCCATGGGCAAGCTCCTCTGTCCTCACCAGCCTCCAACTTCCCCTGAGAGGCTTTTTCTCTCCTCTCCTAGGTTCTGCTGACTGTATGTGCTCTCTCTAACCTCAAGAGACTTTTACTGTCTAATGCAATTCATAAAAATAGCACAAGAGTGCCAATTCTTGTCTCTTCATTTCGTTTGCATCCTTTGTAGACATCCTGACTCAGGCTGTGCTTTTTCTAACTCATTTACAATTAAGATAATGCTGGGTTGTTGAACGCTTCTTTCTTTGTTTTTCCTTCTCTACATCTTTCTGCCTTGTATTTTTTCTCTCCCTTCTCTCATTTCTCAATTTCCCTTCCTGGGGCTAATGATGTTTTAATTATTTGTCTTCCCCTTGGATCCAAAGCGGTCCCCAGGGAACTTGCCAGCACAGTCACAGTGGCCATATAGATAGGAGATGGCGTCAGGGTTTGGGACTGCCCAGTCTTGCTCCTCAAGATACCTCCACCCTGGGTGCCTCCCTGTCACTCCCCAAGCACACACCCTCTCCAGGCCCTTTCAAAGGAGGCAGCTCCTCATTTGTCTACTCGTGTATACTCACATCATCACCAGGCTTTCCAGGGGGACCAGGAGGACCACGGGGACCCATGGGACCCTACAAACAAAGGAAGATAGTTTAAGAGATGGTTATAGTGGGAAGACACCTAAGCAATGGACAAAACTTTGACATTGTAGTTTTGGAAGCCAGTTCTTCTATGAAGAAGAAAGATGGGAAGGTCAGAGCAAAGGTGCAGAGATCATAGTGGGACGCAGCAGATAGCACAGGCTGGGGTGACCCGGAAAGGGGGCTGTTAGGACAGAGTCCCTGGTGGTCCTTGCCACATTGGGCTGTCTGTCAGAGTTCCTCCACAGCTAGGAAGTGACATCCGAATTTCCTTGGGGCCACCGACTGTGGGAAAGAGCTGGGCAGAGCCTGGGAGGGACAGCAGCTGCGGTCCTAGTGGTCTATCATTAGAGGCTCCCCCAGAGAAGGGACAGGGCCGTGCTGGTACTCACAGAGACACCAGGTTCACCAGGTTCACCAGGATTGCCTTGAAATCCTTGAGGCCCCTAAAAAGTAAAATGAGGATACCAGGTCAATCCCTATAAACTGCTAAAACATCATAGTGCTTGGGAATCATCTGCGACACGATGGAGGCAAAAAGAATTGCAGATACTTACAGGAGCACCTGCAGGGCCTGGAGGTCCTCGAGGTCCCATGGGGCCCTGCATCGGAACAGAAAATGAGGGGTTTACTACACATGCTTCCTCAGTGGCCTCCAGTGTGCCATCTTCTCCCAGCCAACAGCCCGGGCAAAGGACAAGAAGTTACTCTGTGGGCAAGGGGCCTAGAGTGGCTGCTCCCTCTCATTTCCCACTCCCCACGCAACACTCTATTTTTATTTATAGGCACCATTTGGACAGAAAAGCTGGCCTTGCTTTCTCCTGGACAGCAGCCATGTTTACTAAAGGCTGAGTTTCATTTAGCATGTGCCAAGTCAGAGCTGCGGGCTGAGATTTCCTGCTGGAAGTCTGTGGATGCTGGAGAACAGTAGCTGCTGTCTGCATTCTTCAGTTCTCATTCCAAGAGCAATAGCAACTGGTCTTCTAACAGATCAGCCTATATGCATCTCCCCATCTTCATTCTTCTTAGTCACTCCAGCGCATCATTAAAAGTGGCATCCATTGCCATTAAAAACCAAATGCTTTGGGCTAGCTGAATGGGAGGTTACATAACTACGGAGGAGAGCCACTCTAAGCAATTATCTGTAAAGCAGAGGTTGTCAGACTCTCTGGCTCTGCTAAGGGCCACCTCCTGCCATTTTGGCTGCAAAGAACTAGTGTCTTTTCTTACCATTGGTCCTTGCATTACTCCCAACTGGGCGCCACCAGCCTTTTCATCAAATCCTCCAGCCATCTGGGCAGCAAAGTTCTGCAAAGAAACCCAACAACGTTAGGAGGTTGAAAGGCACTAGGTCTTCCCTACTTGGCTAGGTAAGCTCTATATGGATACAAAGAACTCTACTGAGATAAACTCTGATTGTTGGAGACTAACCTATCATTGATCAGAATTACCACTGATGCCTGGAAAGTAATTTTGGGAATGGATTATTAGATGACAGTGGCAAAATCATTTCACTGGAAGGGAAAGTGTTATTTGAGGAAGTATCAGTTCCTTGCATTTCATTTTATAAAATTATTTTTATGCTCTAAAATATGACAGATGTTATTTAACGTATATGGAGAAACATAACCAAACCTTCTAAGGGTGTTCTTTATTCTTTAAGACTTTAGTGCCCAGCAAAAGACTAAAATCAACAGTCTTGGAATATTTCAGCAAGAGATGTAGTAGGCATCTGTGATCCCATTTGAGTTTAAGAATTTAAAATACAGCAAACATCAAAATAGCAAACCTGCAAAAACTAGGCAATCATATAATTTGTTGATTGGTTTGATTCCAGAATTGACTTTAGCCACACACCTTCACTCAGTGGAGCTCTTTCATGAGAGTGAATAGTTGCTTGGAATGTACTTGGCAAGAACCAAGGATAAATGTCTTCCAAGGACAGTGGTCACTCGTCTTCCAGGGAAATACAAGTGCCCAGTCATCCTTCCTCCTATCCCTTACACCCACCCCCCAGCATCAACTACGTGGTACAGATGCCAGGAAGCCAGGTAACTGAGGACTTTCTTTATAGAATCCCAGTTAGTGAAAAAAGCCAGCCCTTAGCACCACAGTCTCATGCCTAATATGTGACTCTTCTAAATTACAGGCCTGAGGGCAAAGCCCATGGACAGGCTATGTACACACTGCTGGCAGCCCTGGGAGCCAGCCAGGTAAGTGCAAGCAGCAATTTAAAAGCCACATTTCTGGAGGGACAGCCTGAAGGAATGGGAAGTAAGGATACTTACTCCACCAAGACCAGGGGGACCAGGGGGGCCGGGAGGACCAGGGGGGCCAGGATTTCCAGGGGTCCCAGGTTCTCCATCTCTGCCACGAGGTCCAGGGGCACCCTTGGCATAAAGAGAAAAAGGCATCAATGGGAAGCAGTGTTTCTCCAAGAGCCATCTGTCCCTTGGCTGCTCTTTAAGAGGTGACCAGGCCCTT
|
GAGGAGCTAGTTCCACTGAGCTCCACAGTGTCTCCCTGGCTAGGAAGAGGGGCTCCTCATTGTCTCCCTCCTCCCCATCCCATTGTACTTTCTGGCCTCTCACCTTCACACCAGGAGCACCCGCCTCTCCCTTAGCACCGTCCAGGCCTGGATAACCCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGGAAACCACGAGCACCCTGCAATCCAAAGTGGAGGTGTTCAGAGCACAGAGTAAAATAACAGTGGAAAGCTGCCCTGGGCTGCAGGAGGGCCTCCAGTTCCCTTGGGCCACCAGGGCGTTGTCTCGAATCCCCACACTTGGACAGCTCTTTCTGTAAAACCCAGACCACCCCTCCCCGTACCCCCCATTTTATGCAAAGTGGTATAAATAACAACTGCCCAGCCTCCCTCATGAGAGCCTGAGTGGAAATTACAAACATGGTCGTGATAAATATAGGGGCTACTGGCGTTTCATCTCAGAAGTGACCTCATTGAACTGGATGCACTGTGTTTAAGGCCACAGGGAGGGAGACGCTAGGAAAGATGCCTGAGGCTGGGAACGGTGGCGTTTACCTGAGGACCAGGCGGACCCCTTTCACCAGCTTTTCCAGGTTTTCCAGCTTCACCCTGAAGGGAGAGAGAGAGATATCCCAGCTTCCTCAGAGACGCAGTAGCATAGTGGGGGCACCCCAGAGGGCTTCCCTCCTTCCAGCCCTCCATGCCTTTGCCTACCGGCTCACTCATCTCCCTCACCTCCTTCAGACTCCACGTGCCTGGATGCCTTTCATGGGTCACCATTTATTCTTTTGGACACATGCATAGCCCATGGGCAAGCTCCTCTGTCCTCACCAGCCTCCAACTTCCCCTGAGAGGCTTTTTCTCTCCTCTCCTAGGTTCTGCTGACTGTATGTGCTCTCTCTAACCTCAAGAGACTTTTACTGTCTAATGCAATTCATAAAAATAGCACAAGAGTGCCAATTCTTGTCTCTTCATTTCGTTTGCATCCTTTGTAGACATCCTGACTCAGGCTGTGCTTTTTCTAACTCATTTACAATTAAGATAATGCTGGGTTGTTGAACGCTTCTTTCTTTGTTTTTCCTTCTCTACATCTTTCTGCCTTGTATTTTTTCTCTCCCTTCTCTCATTTCTCAATTTCCCTTCCTGGGGCTAATGATGTTTTAATTATTTGTCTTCCCCTTGGATCCAAAGCGGTCCCCAGGGAACTTGCCAGCACAGTCACAGTGGCCATATAGATAGGAGATGGCGTCAGGGTTTGGGACTGCCCAGTCTTGCTCCTCAAGATACCTCCACCCTGGGTGCCTCCCTGTCACTCCCCAAGCACACACCCTCTCCAGGCCCTTTCAAAGGAGGCAGCTCCTCATTTGTCTACTCGTGTATACTCACATCATCACCAGGCTTTCCAGGGGGACCAGGAGGACCACGGGGACCCATGGGACCCTACAAACAAAGGAAGATAGTTTAAGAGATGGTTATAGTGGGAAGACACCTAAGCAATGGACAAAACTTTGACATTGTAGTTTTGGAAGCCAGTTCTTCTATGAAGAAGAAAGATGGGAAGGTCAGAGCAAAGGTGCAGAGATCATAGTGGGACGCAGCAGATAGCACAGGCTGGGGTGACCCGGAAAGGGGGCTGTTAGGACAGAGTCCCTGGTGGTCCTTGCCACATTGGGCTGTCTGTCAGAGTTCCTCCACAGCTAGGAAGTGACATCCGAATTTCCTTGGGGCCACCGACTGTGGGAAAGAGCTGGGCAGAGCCTGGGAGGGACAGCAGCTGCGGTCCTAGTGGTCTATCATTAGAGGCTCCCCCAGAGAAGGGACAGGGCCGTGCTGGTACTCACAGAGACACCAGGTTCACCAGGTTCACCAGGATTGCCTTGAAATCGTTGAGGCCCCTAAAAAGTAAAATGAGGATACCAGGTCAATCCCTATAAACTGCTAAAACATCATAGTGCTTGGGAATCATCTGCGACACGATGGAGGCAAAAAGAATTGCAGATACTTACAGGAGCACCTGCAGGGCCTGGAGGTCCTCGAGGTCCCATGGGGCCCTGCATCGGAACAGAAAATGAGGGGTTTACTACACATGCTTCCTCAGTGGCCTCCAGTGTGCCATCTTCTCCCAGCCAACAGCCCGGGCAAAGGACAAGAAGTTACTCTGTGGGCAAGGGGCCTAGAGTGGCTGCTCCCTCTCATTTCCCACTCCCCACGCAACACTCTATTTTTATTTATAGGCACCATTTGGACAGAAAAGCTGGCCTTGCTTTCTCCTGGACAGCAGCCATGTTTACTAAAGGCTGAGTTTCATTTAGCATGTGCCAAGTCAGAGCTGCGGGCTGAGATTTCCTGCTGGAAGTCTGTGGATGCTGGAGAACAGTAGCTGCTGTCTGCATTCTTCAGTTCTCATTCCAAGAGCAATAGCAACTGGTCTTCTAACAGATCAGCCTATATGCATCTCCCCATCTTCATTCTTCTTAGTCACTCCAGCGCATCATTAAAAGTGGCATCCATTGCCATTAAAAACCAAATGCTTTGGGCTAGCTGAATGGGAGGTTACATAACTACGGAGGAGAGCCACTCTAAGCAATTATCTGTAAAGCAGAGGTTGTCAGACTCTCTGGCTCTGCTAAGGGCCACCTCCTGCCATTTTGGCTGCAAAGAACTAGTGTCTTTTCTTACCATTGGTCCTTGCATTACTCCCAACTGGGCGCCACCAGCCTTTTCATCAAATCCTCCAGCCATCTGGGCAGCAAAGTTCTGCAAAGAAACCCAACAACGTTAGGAGGTTGAAAGGCACTAGGTCTTCCCTACTTGGCTAGGTAAGCTCTATATGGATACAAAGAACTCTACTGAGATAAACTCTGATTGTTGGAGACTAACCTATCATTGATCAGAATTACCACTGATGCCTGGAAAGTAATTTTGGGAATGGATTATTAGATGACAGTGGCAAAATCATTTCACTGGAAGGGAAAGTGTTATTTGAGGAAGTATCAGTTCCTTGCATTTCATTTTATAAAATTATTTTTATGCTCTAAAATATGACAGATGTTATTTAACGTATATGGAGAAACATAACCAAACCTTCTAAGGGTGTTCTTTATTCTTTAAGACTTTAGTGCCCAGCAAAAGACTAAAATCAACAGTCTTGGAATATTTCAGCAAGAGATGTAGTAGGCATCTGTGATCCCATTTGAGTTTAAGAATTTAAAATACAGCAAACATCAAAATAGCAAACCTGCAAAAACTAGGCAATCATATAATTTGTTGATTGGTTTGATTCCAGAATTGACTTTAGCCACACACCTTCACTCAGTGGAGCTCTTTCATGAGAGTGAATAGTTGCTTGGAATGTACTTGGCAAGAACCAAGGATAAATGTCTTCCAAGGACAGTGGTCACTCGTCTTCCAGGGAAATACAAGTGCCCAGTCATCCTTCCTCCTATCCCTTACACCCACCCCCCAGCATCAACTACGTGGTACAGATGCCAGGAAGCCAGGTAACTGAGGACTTTCTTTATAGAATCCCAGTTAGTGAAAAAAGCCAGCCCTTAGCACCACAGTCTCATGCCTAATATGTGACTCTTCTAAATTACAGGCCTGAGGGCAAAGCCCATGGACAGGCTATGTACACACTGCTGGCAGCCCTGGGAGCCAGCCAGGTAAGTGCAAGCAGCAATTTAAAAGCCACATTTCTGGAGGGACAGCCTGAAGGAATGGGAAGTAAGGATACTTACTCCACCAAGACCAGGGGGACCAGGGGGGCCGGGAGGACCAGGGGGGCCAGGATTTCCAGGGGTCCCAGGTTCTCCATCTCTGCCACGAGGTCCAGGGGCACCCTTGGCATAAAGAGAAAAAGGCATCAATGGGAAGCAGTGTTTCTCCAAGAGCCATCTGTCCCTTGGCTGCTCTTTAAGAGGTGACCAGGCCCTT
|
Task1_train_17505
|
The following genetic variant occurs in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Classify its clinical effect — pathogenic or benign — and list any associated condition.
|
Pathogenic; not provided
|
AGTTCCACTGAGCTCCACAGTGTCTCCCTGGCTAGGAAGAGGGGCTCCTCATTGTCTCCCTCCTCCCCATCCCATTGTACTTTCTGGCCTCTCACCTTCACACCAGGAGCACCCGCCTCTCCCTTAGCACCGTCCAGGCCTGGATAACCCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGGAAACCACGAGCACCCTGCAATCCAAAGTGGAGGTGTTCAGAGCACAGAGTAAAATAACAGTGGAAAGCTGCCCTGGGCTGCAGGAGGGCCTCCAGTTCCCTTGGGCCACCAGGGCGTTGTCTCGAATCCCCACACTTGGACAGCTCTTTCTGTAAAACCCAGACCACCCCTCCCCGTACCCCCCATTTTATGCAAAGTGGTATAAATAACAACTGCCCAGCCTCCCTCATGAGAGCCTGAGTGGAAATTACAAACATGGTCGTGATAAATATAGGGGCTACTGGCGTTTCATCTCAGAAGTGACCTCATTGAACTGGATGCACTGTGTTTAAGGCCACAGGGAGGGAGACGCTAGGAAAGATGCCTGAGGCTGGGAACGGTGGCGTTTACCTGAGGACCAGGCGGACCCCTTTCACCAGCTTTTCCAGGTTTTCCAGCTTCACCCTGAAGGGAGAGAGAGAGATATCCCAGCTTCCTCAGAGACGCAGTAGCATAGTGGGGGCACCCCAGAGGGCTTCCCTCCTTCCAGCCCTCCATGCCTTTGCCTACCGGCTCACTCATCTCCCTCACCTCCTTCAGACTCCACGTGCCTGGATGCCTTTCATGGGTCACCATTTATTCTTTTGGACACATGCATAGCCCATGGGCAAGCTCCTCTGTCCTCACCAGCCTCCAACTTCCCCTGAGAGGCTTTTTCTCTCCTCTCCTAGGTTCTGCTGACTGTATGTGCTCTCTCTAACCTCAAGAGACTTTTACTGTCTAATGCAATTCATAAAAATAGCACAAGAGTGCCAATTCTTGTCTCTTCATTTCGTTTGCATCCTTTGTAGACATCCTGACTCAGGCTGTGCTTTTTCTAACTCATTTACAATTAAGATAATGCTGGGTTGTTGAACGCTTCTTTCTTTGTTTTTCCTTCTCTACATCTTTCTGCCTTGTATTTTTTCTCTCCCTTCTCTCATTTCTCAATTTCCCTTCCTGGGGCTAATGATGTTTTAATTATTTGTCTTCCCCTTGGATCCAAAGCGGTCCCCAGGGAACTTGCCAGCACAGTCACAGTGGCCATATAGATAGGAGATGGCGTCAGGGTTTGGGACTGCCCAGTCTTGCTCCTCAAGATACCTCCACCCTGGGTGCCTCCCTGTCACTCCCCAAGCACACACCCTCTCCAGGCCCTTTCAAAGGAGGCAGCTCCTCATTTGTCTACTCGTGTATACTCACATCATCACCAGGCTTTCCAGGGGGACCAGGAGGACCACGGGGACCCATGGGACCCTACAAACAAAGGAAGATAGTTTAAGAGATGGTTATAGTGGGAAGACACCTAAGCAATGGACAAAACTTTGACATTGTAGTTTTGGAAGCCAGTTCTTCTATGAAGAAGAAAGATGGGAAGGTCAGAGCAAAGGTGCAGAGATCATAGTGGGACGCAGCAGATAGCACAGGCTGGGGTGACCCGGAAAGGGGGCTGTTAGGACAGAGTCCCTGGTGGTCCTTGCCACATTGGGCTGTCTGTCAGAGTTCCTCCACAGCTAGGAAGTGACATCCGAATTTCCTTGGGGCCACCGACTGTGGGAAAGAGCTGGGCAGAGCCTGGGAGGGACAGCAGCTGCGGTCCTAGTGGTCTATCATTAGAGGCTCCCCCAGAGAAGGGACAGGGCCGTGCTGGTACTCACAGAGACACCAGGTTCACCAGGTTCACCAGGATTGCCTTGAAATCCTTGAGGCCCCTAAAAAGTAAAATGAGGATACCAGGTCAATCCCTATAAACTGCTAAAACATCATAGTGCTTGGGAATCATCTGCGACACGATGGAGGCAAAAAGAATTGCAGATACTTACAGGAGCACCTGCAGGGCCTGGAGGTCCTCGAGGTCCCATGGGGCCCTGCATCGGAACAGAAAATGAGGGGTTTACTACACATGCTTCCTCAGTGGCCTCCAGTGTGCCATCTTCTCCCAGCCAACAGCCCGGGCAAAGGACAAGAAGTTACTCTGTGGGCAAGGGGCCTAGAGTGGCTGCTCCCTCTCATTTCCCACTCCCCACGCAACACTCTATTTTTATTTATAGGCACCATTTGGACAGAAAAGCTGGCCTTGCTTTCTCCTGGACAGCAGCCATGTTTACTAAAGGCTGAGTTTCATTTAGCATGTGCCAAGTCAGAGCTGCGGGCTGAGATTTCCTGCTGGAAGTCTGTGGATGCTGGAGAACAGTAGCTGCTGTCTGCATTCTTCAGTTCTCATTCCAAGAGCAATAGCAACTGGTCTTCTAACAGATCAGCCTATATGCATCTCCCCATCTTCATTCTTCTTAGTCACTCCAGCGCATCATTAAAAGTGGCATCCATTGCCATTAAAAACCAAATGCTTTGGGCTAGCTGAATGGGAGGTTACATAACTACGGAGGAGAGCCACTCTAAGCAATTATCTGTAAAGCAGAGGTTGTCAGACTCTCTGGCTCTGCTAAGGGCCACCTCCTGCCATTTTGGCTGCAAAGAACTAGTGTCTTTTCTTACCATTGGTCCTTGCATTACTCCCAACTGGGCGCCACCAGCCTTTTCATCAAATCCTCCAGCCATCTGGGCAGCAAAGTTCTGCAAAGAAACCCAACAACGTTAGGAGGTTGAAAGGCACTAGGTCTTCCCTACTTGGCTAGGTAAGCTCTATATGGATACAAAGAACTCTACTGAGATAAACTCTGATTGTTGGAGACTAACCTATCATTGATCAGAATTACCACTGATGCCTGGAAAGTAATTTTGGGAATGGATTATTAGATGACAGTGGCAAAATCATTTCACTGGAAGGGAAAGTGTTATTTGAGGAAGTATCAGTTCCTTGCATTTCATTTTATAAAATTATTTTTATGCTCTAAAATATGACAGATGTTATTTAACGTATATGGAGAAACATAACCAAACCTTCTAAGGGTGTTCTTTATTCTTTAAGACTTTAGTGCCCAGCAAAAGACTAAAATCAACAGTCTTGGAATATTTCAGCAAGAGATGTAGTAGGCATCTGTGATCCCATTTGAGTTTAAGAATTTAAAATACAGCAAACATCAAAATAGCAAACCTGCAAAAACTAGGCAATCATATAATTTGTTGATTGGTTTGATTCCAGAATTGACTTTAGCCACACACCTTCACTCAGTGGAGCTCTTTCATGAGAGTGAATAGTTGCTTGGAATGTACTTGGCAAGAACCAAGGATAAATGTCTTCCAAGGACAGTGGTCACTCGTCTTCCAGGGAAATACAAGTGCCCAGTCATCCTTCCTCCTATCCCTTACACCCACCCCCCAGCATCAACTACGTGGTACAGATGCCAGGAAGCCAGGTAACTGAGGACTTTCTTTATAGAATCCCAGTTAGTGAAAAAAGCCAGCCCTTAGCACCACAGTCTCATGCCTAATATGTGACTCTTCTAAATTACAGGCCTGAGGGCAAAGCCCATGGACAGGCTATGTACACACTGCTGGCAGCCCTGGGAGCCAGCCAGGTAAGTGCAAGCAGCAATTTAAAAGCCACATTTCTGGAGGGACAGCCTGAAGGAATGGGAAGTAAGGATACTTACTCCACCAAGACCAGGGGGACCAGGGGGGCCGGGAGGACCAGGGGGGCCAGGATTTCCAGGGGTCCCAGGTTCTCCATCTCTGCCACGAGGTCCAGGGGCACCCTTGGCATAAAGAGAAAAAGGCATCAATGGGAAGCAGTGTTTCTCCAAGAGCCATCTGTCCCTTGGCTGCTCTTTAAGAGGTGACCAGGCCCTTAAACACAT
|
AGTTCCACTGAGCTCCACAGTGTCTCCCTGGCTAGGAAGAGGGGCTCCTCATTGTCTCCCTCCTCCCCATCCCATTGTACTTTCTGGCCTCTCACCTTCACACCAGGAGCACCCGCCTCTCCCTTAGCACCGTCCAGGCCTGGATAACCCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGGAAACCACGAGCACCCTGCAATCCAAAGTGGAGGTGTTCAGAGCACAGAGTAAAATAACAGTGGAAAGCTGCCCTGGGCTGCAGGAGGGCCTCCAGTTCCCTTGGGCCACCAGGGCGTTGTCTCGAATCCCCACACTTGGACAGCTCTTTCTGTAAAACCCAGACCACCCCTCCCCGTACCCCCCATTTTATGCAAAGTGGTATAAATAACAACTGCCCAGCCTCCCTCATGAGAGCCTGAGTGGAAATTACAAACATGGTCGTGATAAATATAGGGGCTACTGGCGTTTCATCTCAGAAGTGACCTCATTGAACTGGATGCACTGTGTTTAAGGCCACAGGGAGGGAGACGCTAGGAAAGATGCCTGAGGCTGGGAACGGTGGCGTTTACCTGAGGACCAGGCGGACCCCTTTCACCAGCTTTTCCAGGTTTTCCAGCTTCACCCTGAAGGGAGAGAGAGAGATATCCCAGCTTCCTCAGAGACGCAGTAGCATAGTGGGGGCACCCCAGAGGGCTTCCCTCCTTCCAGCCCTCCATGCCTTTGCCTACCGGCTCACTCATCTCCCTCACCTCCTTCAGACTCCACGTGCCTGGATGCCTTTCATGGGTCACCATTTATTCTTTTGGACACATGCATAGCCCATGGGCAAGCTCCTCTGTCCTCACCAGCCTCCAACTTCCCCTGAGAGGCTTTTTCTCTCCTCTCCTAGGTTCTGCTGACTGTATGTGCTCTCTCTAACCTCAAGAGACTTTTACTGTCTAATGCAATTCATAAAAATAGCACAAGAGTGCCAATTCTTGTCTCTTCATTTCGTTTGCATCCTTTGTAGACATCCTGACTCAGGCTGTGCTTTTTCTAACTCATTTACAATTAAGATAATGCTGGGTTGTTGAACGCTTCTTTCTTTGTTTTTCCTTCTCTACATCTTTCTGCCTTGTATTTTTTCTCTCCCTTCTCTCATTTCTCAATTTCCCTTCCTGGGGCTAATGATGTTTTAATTATTTGTCTTCCCCTTGGATCCAAAGCGGTCCCCAGGGAACTTGCCAGCACAGTCACAGTGGCCATATAGATAGGAGATGGCGTCAGGGTTTGGGACTGCCCAGTCTTGCTCCTCAAGATACCTCCACCCTGGGTGCCTCCCTGTCACTCCCCAAGCACACACCCTCTCCAGGCCCTTTCAAAGGAGGCAGCTCCTCATTTGTCTACTCGTGTATACTCACATCATCACCAGGCTTTCCAGGGGGACCAGGAGGACCACGGGGACCCATGGGACCCTACAAACAAAGGAAGATAGTTTAAGAGATGGTTATAGTGGGAAGACACCTAAGCAATGGACAAAACTTTGACATTGTAGTTTTGGAAGCCAGTTCTTCTATGAAGAAGAAAGATGGGAAGGTCAGAGCAAAGGTGCAGAGATCATAGTGGGACGCAGCAGATAGCACAGGCTGGGGTGACCCGGAAAGGGGGCTGTTAGGACAGAGTCCCTGGTGGTCCTTGCCACATTGGGCTGTCTGTCAGAGTTCCTCCACAGCTAGGAAGTGACATCCGAATTTCCTTGGGGCCACCGACTGTGGGAAAGAGCTGGGCAGAGCCTGGGAGGGACAGCAGCTGCGGTCCTAGTGGTCTATCATTAGAGGCTCCCCCAGAGAAGGGACAGGGCCGTGCTGGTACTCACAGAGACACCAGGTTCACCAGGTTCACCAGGATTGCCTTGAAATCCTTGAGGCTCCTAAAAAGTAAAATGAGGATACCAGGTCAATCCCTATAAACTGCTAAAACATCATAGTGCTTGGGAATCATCTGCGACACGATGGAGGCAAAAAGAATTGCAGATACTTACAGGAGCACCTGCAGGGCCTGGAGGTCCTCGAGGTCCCATGGGGCCCTGCATCGGAACAGAAAATGAGGGGTTTACTACACATGCTTCCTCAGTGGCCTCCAGTGTGCCATCTTCTCCCAGCCAACAGCCCGGGCAAAGGACAAGAAGTTACTCTGTGGGCAAGGGGCCTAGAGTGGCTGCTCCCTCTCATTTCCCACTCCCCACGCAACACTCTATTTTTATTTATAGGCACCATTTGGACAGAAAAGCTGGCCTTGCTTTCTCCTGGACAGCAGCCATGTTTACTAAAGGCTGAGTTTCATTTAGCATGTGCCAAGTCAGAGCTGCGGGCTGAGATTTCCTGCTGGAAGTCTGTGGATGCTGGAGAACAGTAGCTGCTGTCTGCATTCTTCAGTTCTCATTCCAAGAGCAATAGCAACTGGTCTTCTAACAGATCAGCCTATATGCATCTCCCCATCTTCATTCTTCTTAGTCACTCCAGCGCATCATTAAAAGTGGCATCCATTGCCATTAAAAACCAAATGCTTTGGGCTAGCTGAATGGGAGGTTACATAACTACGGAGGAGAGCCACTCTAAGCAATTATCTGTAAAGCAGAGGTTGTCAGACTCTCTGGCTCTGCTAAGGGCCACCTCCTGCCATTTTGGCTGCAAAGAACTAGTGTCTTTTCTTACCATTGGTCCTTGCATTACTCCCAACTGGGCGCCACCAGCCTTTTCATCAAATCCTCCAGCCATCTGGGCAGCAAAGTTCTGCAAAGAAACCCAACAACGTTAGGAGGTTGAAAGGCACTAGGTCTTCCCTACTTGGCTAGGTAAGCTCTATATGGATACAAAGAACTCTACTGAGATAAACTCTGATTGTTGGAGACTAACCTATCATTGATCAGAATTACCACTGATGCCTGGAAAGTAATTTTGGGAATGGATTATTAGATGACAGTGGCAAAATCATTTCACTGGAAGGGAAAGTGTTATTTGAGGAAGTATCAGTTCCTTGCATTTCATTTTATAAAATTATTTTTATGCTCTAAAATATGACAGATGTTATTTAACGTATATGGAGAAACATAACCAAACCTTCTAAGGGTGTTCTTTATTCTTTAAGACTTTAGTGCCCAGCAAAAGACTAAAATCAACAGTCTTGGAATATTTCAGCAAGAGATGTAGTAGGCATCTGTGATCCCATTTGAGTTTAAGAATTTAAAATACAGCAAACATCAAAATAGCAAACCTGCAAAAACTAGGCAATCATATAATTTGTTGATTGGTTTGATTCCAGAATTGACTTTAGCCACACACCTTCACTCAGTGGAGCTCTTTCATGAGAGTGAATAGTTGCTTGGAATGTACTTGGCAAGAACCAAGGATAAATGTCTTCCAAGGACAGTGGTCACTCGTCTTCCAGGGAAATACAAGTGCCCAGTCATCCTTCCTCCTATCCCTTACACCCACCCCCCAGCATCAACTACGTGGTACAGATGCCAGGAAGCCAGGTAACTGAGGACTTTCTTTATAGAATCCCAGTTAGTGAAAAAAGCCAGCCCTTAGCACCACAGTCTCATGCCTAATATGTGACTCTTCTAAATTACAGGCCTGAGGGCAAAGCCCATGGACAGGCTATGTACACACTGCTGGCAGCCCTGGGAGCCAGCCAGGTAAGTGCAAGCAGCAATTTAAAAGCCACATTTCTGGAGGGACAGCCTGAAGGAATGGGAAGTAAGGATACTTACTCCACCAAGACCAGGGGGACCAGGGGGGCCGGGAGGACCAGGGGGGCCAGGATTTCCAGGGGTCCCAGGTTCTCCATCTCTGCCACGAGGTCCAGGGGCACCCTTGGCATAAAGAGAAAAAGGCATCAATGGGAAGCAGTGTTTCTCCAAGAGCCATCTGTCCCTTGGCTGCTCTTTAAGAGGTGACCAGGCCCTTAAACACAT
|
Task1_train_17506
|
This genomic variant is located on Chromosome 12, within the COL2A1 (collagen type II alpha 1 chain) gene. Can you determine its pathogenicity and name any linked disease?
|
Pathogenic; COL2A1-related disorder
|
GTTCCACTGAGCTCCACAGTGTCTCCCTGGCTAGGAAGAGGGGCTCCTCATTGTCTCCCTCCTCCCCATCCCATTGTACTTTCTGGCCTCTCACCTTCACACCAGGAGCACCCGCCTCTCCCTTAGCACCGTCCAGGCCTGGATAACCCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGGAAACCACGAGCACCCTGCAATCCAAAGTGGAGGTGTTCAGAGCACAGAGTAAAATAACAGTGGAAAGCTGCCCTGGGCTGCAGGAGGGCCTCCAGTTCCCTTGGGCCACCAGGGCGTTGTCTCGAATCCCCACACTTGGACAGCTCTTTCTGTAAAACCCAGACCACCCCTCCCCGTACCCCCCATTTTATGCAAAGTGGTATAAATAACAACTGCCCAGCCTCCCTCATGAGAGCCTGAGTGGAAATTACAAACATGGTCGTGATAAATATAGGGGCTACTGGCGTTTCATCTCAGAAGTGACCTCATTGAACTGGATGCACTGTGTTTAAGGCCACAGGGAGGGAGACGCTAGGAAAGATGCCTGAGGCTGGGAACGGTGGCGTTTACCTGAGGACCAGGCGGACCCCTTTCACCAGCTTTTCCAGGTTTTCCAGCTTCACCCTGAAGGGAGAGAGAGAGATATCCCAGCTTCCTCAGAGACGCAGTAGCATAGTGGGGGCACCCCAGAGGGCTTCCCTCCTTCCAGCCCTCCATGCCTTTGCCTACCGGCTCACTCATCTCCCTCACCTCCTTCAGACTCCACGTGCCTGGATGCCTTTCATGGGTCACCATTTATTCTTTTGGACACATGCATAGCCCATGGGCAAGCTCCTCTGTCCTCACCAGCCTCCAACTTCCCCTGAGAGGCTTTTTCTCTCCTCTCCTAGGTTCTGCTGACTGTATGTGCTCTCTCTAACCTCAAGAGACTTTTACTGTCTAATGCAATTCATAAAAATAGCACAAGAGTGCCAATTCTTGTCTCTTCATTTCGTTTGCATCCTTTGTAGACATCCTGACTCAGGCTGTGCTTTTTCTAACTCATTTACAATTAAGATAATGCTGGGTTGTTGAACGCTTCTTTCTTTGTTTTTCCTTCTCTACATCTTTCTGCCTTGTATTTTTTCTCTCCCTTCTCTCATTTCTCAATTTCCCTTCCTGGGGCTAATGATGTTTTAATTATTTGTCTTCCCCTTGGATCCAAAGCGGTCCCCAGGGAACTTGCCAGCACAGTCACAGTGGCCATATAGATAGGAGATGGCGTCAGGGTTTGGGACTGCCCAGTCTTGCTCCTCAAGATACCTCCACCCTGGGTGCCTCCCTGTCACTCCCCAAGCACACACCCTCTCCAGGCCCTTTCAAAGGAGGCAGCTCCTCATTTGTCTACTCGTGTATACTCACATCATCACCAGGCTTTCCAGGGGGACCAGGAGGACCACGGGGACCCATGGGACCCTACAAACAAAGGAAGATAGTTTAAGAGATGGTTATAGTGGGAAGACACCTAAGCAATGGACAAAACTTTGACATTGTAGTTTTGGAAGCCAGTTCTTCTATGAAGAAGAAAGATGGGAAGGTCAGAGCAAAGGTGCAGAGATCATAGTGGGACGCAGCAGATAGCACAGGCTGGGGTGACCCGGAAAGGGGGCTGTTAGGACAGAGTCCCTGGTGGTCCTTGCCACATTGGGCTGTCTGTCAGAGTTCCTCCACAGCTAGGAAGTGACATCCGAATTTCCTTGGGGCCACCGACTGTGGGAAAGAGCTGGGCAGAGCCTGGGAGGGACAGCAGCTGCGGTCCTAGTGGTCTATCATTAGAGGCTCCCCCAGAGAAGGGACAGGGCCGTGCTGGTACTCACAGAGACACCAGGTTCACCAGGTTCACCAGGATTGCCTTGAAATCCTTGAGGCCCCTAAAAAGTAAAATGAGGATACCAGGTCAATCCCTATAAACTGCTAAAACATCATAGTGCTTGGGAATCATCTGCGACACGATGGAGGCAAAAAGAATTGCAGATACTTACAGGAGCACCTGCAGGGCCTGGAGGTCCTCGAGGTCCCATGGGGCCCTGCATCGGAACAGAAAATGAGGGGTTTACTACACATGCTTCCTCAGTGGCCTCCAGTGTGCCATCTTCTCCCAGCCAACAGCCCGGGCAAAGGACAAGAAGTTACTCTGTGGGCAAGGGGCCTAGAGTGGCTGCTCCCTCTCATTTCCCACTCCCCACGCAACACTCTATTTTTATTTATAGGCACCATTTGGACAGAAAAGCTGGCCTTGCTTTCTCCTGGACAGCAGCCATGTTTACTAAAGGCTGAGTTTCATTTAGCATGTGCCAAGTCAGAGCTGCGGGCTGAGATTTCCTGCTGGAAGTCTGTGGATGCTGGAGAACAGTAGCTGCTGTCTGCATTCTTCAGTTCTCATTCCAAGAGCAATAGCAACTGGTCTTCTAACAGATCAGCCTATATGCATCTCCCCATCTTCATTCTTCTTAGTCACTCCAGCGCATCATTAAAAGTGGCATCCATTGCCATTAAAAACCAAATGCTTTGGGCTAGCTGAATGGGAGGTTACATAACTACGGAGGAGAGCCACTCTAAGCAATTATCTGTAAAGCAGAGGTTGTCAGACTCTCTGGCTCTGCTAAGGGCCACCTCCTGCCATTTTGGCTGCAAAGAACTAGTGTCTTTTCTTACCATTGGTCCTTGCATTACTCCCAACTGGGCGCCACCAGCCTTTTCATCAAATCCTCCAGCCATCTGGGCAGCAAAGTTCTGCAAAGAAACCCAACAACGTTAGGAGGTTGAAAGGCACTAGGTCTTCCCTACTTGGCTAGGTAAGCTCTATATGGATACAAAGAACTCTACTGAGATAAACTCTGATTGTTGGAGACTAACCTATCATTGATCAGAATTACCACTGATGCCTGGAAAGTAATTTTGGGAATGGATTATTAGATGACAGTGGCAAAATCATTTCACTGGAAGGGAAAGTGTTATTTGAGGAAGTATCAGTTCCTTGCATTTCATTTTATAAAATTATTTTTATGCTCTAAAATATGACAGATGTTATTTAACGTATATGGAGAAACATAACCAAACCTTCTAAGGGTGTTCTTTATTCTTTAAGACTTTAGTGCCCAGCAAAAGACTAAAATCAACAGTCTTGGAATATTTCAGCAAGAGATGTAGTAGGCATCTGTGATCCCATTTGAGTTTAAGAATTTAAAATACAGCAAACATCAAAATAGCAAACCTGCAAAAACTAGGCAATCATATAATTTGTTGATTGGTTTGATTCCAGAATTGACTTTAGCCACACACCTTCACTCAGTGGAGCTCTTTCATGAGAGTGAATAGTTGCTTGGAATGTACTTGGCAAGAACCAAGGATAAATGTCTTCCAAGGACAGTGGTCACTCGTCTTCCAGGGAAATACAAGTGCCCAGTCATCCTTCCTCCTATCCCTTACACCCACCCCCCAGCATCAACTACGTGGTACAGATGCCAGGAAGCCAGGTAACTGAGGACTTTCTTTATAGAATCCCAGTTAGTGAAAAAAGCCAGCCCTTAGCACCACAGTCTCATGCCTAATATGTGACTCTTCTAAATTACAGGCCTGAGGGCAAAGCCCATGGACAGGCTATGTACACACTGCTGGCAGCCCTGGGAGCCAGCCAGGTAAGTGCAAGCAGCAATTTAAAAGCCACATTTCTGGAGGGACAGCCTGAAGGAATGGGAAGTAAGGATACTTACTCCACCAAGACCAGGGGGACCAGGGGGGCCGGGAGGACCAGGGGGGCCAGGATTTCCAGGGGTCCCAGGTTCTCCATCTCTGCCACGAGGTCCAGGGGCACCCTTGGCATAAAGAGAAAAAGGCATCAATGGGAAGCAGTGTTTCTCCAAGAGCCATCTGTCCCTTGGCTGCTCTTTAAGAGGTGACCAGGCCCTTAAACACATG
|
GTTCCACTGAGCTCCACAGTGTCTCCCTGGCTAGGAAGAGGGGCTCCTCATTGTCTCCCTCCTCCCCATCCCATTGTACTTTCTGGCCTCTCACCTTCACACCAGGAGCACCCGCCTCTCCCTTAGCACCGTCCAGGCCTGGATAACCCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGGAAACCACGAGCACCCTGCAATCCAAAGTGGAGGTGTTCAGAGCACAGAGTAAAATAACAGTGGAAAGCTGCCCTGGGCTGCAGGAGGGCCTCCAGTTCCCTTGGGCCACCAGGGCGTTGTCTCGAATCCCCACACTTGGACAGCTCTTTCTGTAAAACCCAGACCACCCCTCCCCGTACCCCCCATTTTATGCAAAGTGGTATAAATAACAACTGCCCAGCCTCCCTCATGAGAGCCTGAGTGGAAATTACAAACATGGTCGTGATAAATATAGGGGCTACTGGCGTTTCATCTCAGAAGTGACCTCATTGAACTGGATGCACTGTGTTTAAGGCCACAGGGAGGGAGACGCTAGGAAAGATGCCTGAGGCTGGGAACGGTGGCGTTTACCTGAGGACCAGGCGGACCCCTTTCACCAGCTTTTCCAGGTTTTCCAGCTTCACCCTGAAGGGAGAGAGAGAGATATCCCAGCTTCCTCAGAGACGCAGTAGCATAGTGGGGGCACCCCAGAGGGCTTCCCTCCTTCCAGCCCTCCATGCCTTTGCCTACCGGCTCACTCATCTCCCTCACCTCCTTCAGACTCCACGTGCCTGGATGCCTTTCATGGGTCACCATTTATTCTTTTGGACACATGCATAGCCCATGGGCAAGCTCCTCTGTCCTCACCAGCCTCCAACTTCCCCTGAGAGGCTTTTTCTCTCCTCTCCTAGGTTCTGCTGACTGTATGTGCTCTCTCTAACCTCAAGAGACTTTTACTGTCTAATGCAATTCATAAAAATAGCACAAGAGTGCCAATTCTTGTCTCTTCATTTCGTTTGCATCCTTTGTAGACATCCTGACTCAGGCTGTGCTTTTTCTAACTCATTTACAATTAAGATAATGCTGGGTTGTTGAACGCTTCTTTCTTTGTTTTTCCTTCTCTACATCTTTCTGCCTTGTATTTTTTCTCTCCCTTCTCTCATTTCTCAATTTCCCTTCCTGGGGCTAATGATGTTTTAATTATTTGTCTTCCCCTTGGATCCAAAGCGGTCCCCAGGGAACTTGCCAGCACAGTCACAGTGGCCATATAGATAGGAGATGGCGTCAGGGTTTGGGACTGCCCAGTCTTGCTCCTCAAGATACCTCCACCCTGGGTGCCTCCCTGTCACTCCCCAAGCACACACCCTCTCCAGGCCCTTTCAAAGGAGGCAGCTCCTCATTTGTCTACTCGTGTATACTCACATCATCACCAGGCTTTCCAGGGGGACCAGGAGGACCACGGGGACCCATGGGACCCTACAAACAAAGGAAGATAGTTTAAGAGATGGTTATAGTGGGAAGACACCTAAGCAATGGACAAAACTTTGACATTGTAGTTTTGGAAGCCAGTTCTTCTATGAAGAAGAAAGATGGGAAGGTCAGAGCAAAGGTGCAGAGATCATAGTGGGACGCAGCAGATAGCACAGGCTGGGGTGACCCGGAAAGGGGGCTGTTAGGACAGAGTCCCTGGTGGTCCTTGCCACATTGGGCTGTCTGTCAGAGTTCCTCCACAGCTAGGAAGTGACATCCGAATTTCCTTGGGGCCACCGACTGTGGGAAAGAGCTGGGCAGAGCCTGGGAGGGACAGCAGCTGCGGTCCTAGTGGTCTATCATTAGAGGCTCCCCCAGAGAAGGGACAGGGCCGTGCTGGTACTCACAGAGACACCAGGTTCACCAGGTTCACCAGGATTGCCTTGAAATCCTTGAGGCCTCTAAAAAGTAAAATGAGGATACCAGGTCAATCCCTATAAACTGCTAAAACATCATAGTGCTTGGGAATCATCTGCGACACGATGGAGGCAAAAAGAATTGCAGATACTTACAGGAGCACCTGCAGGGCCTGGAGGTCCTCGAGGTCCCATGGGGCCCTGCATCGGAACAGAAAATGAGGGGTTTACTACACATGCTTCCTCAGTGGCCTCCAGTGTGCCATCTTCTCCCAGCCAACAGCCCGGGCAAAGGACAAGAAGTTACTCTGTGGGCAAGGGGCCTAGAGTGGCTGCTCCCTCTCATTTCCCACTCCCCACGCAACACTCTATTTTTATTTATAGGCACCATTTGGACAGAAAAGCTGGCCTTGCTTTCTCCTGGACAGCAGCCATGTTTACTAAAGGCTGAGTTTCATTTAGCATGTGCCAAGTCAGAGCTGCGGGCTGAGATTTCCTGCTGGAAGTCTGTGGATGCTGGAGAACAGTAGCTGCTGTCTGCATTCTTCAGTTCTCATTCCAAGAGCAATAGCAACTGGTCTTCTAACAGATCAGCCTATATGCATCTCCCCATCTTCATTCTTCTTAGTCACTCCAGCGCATCATTAAAAGTGGCATCCATTGCCATTAAAAACCAAATGCTTTGGGCTAGCTGAATGGGAGGTTACATAACTACGGAGGAGAGCCACTCTAAGCAATTATCTGTAAAGCAGAGGTTGTCAGACTCTCTGGCTCTGCTAAGGGCCACCTCCTGCCATTTTGGCTGCAAAGAACTAGTGTCTTTTCTTACCATTGGTCCTTGCATTACTCCCAACTGGGCGCCACCAGCCTTTTCATCAAATCCTCCAGCCATCTGGGCAGCAAAGTTCTGCAAAGAAACCCAACAACGTTAGGAGGTTGAAAGGCACTAGGTCTTCCCTACTTGGCTAGGTAAGCTCTATATGGATACAAAGAACTCTACTGAGATAAACTCTGATTGTTGGAGACTAACCTATCATTGATCAGAATTACCACTGATGCCTGGAAAGTAATTTTGGGAATGGATTATTAGATGACAGTGGCAAAATCATTTCACTGGAAGGGAAAGTGTTATTTGAGGAAGTATCAGTTCCTTGCATTTCATTTTATAAAATTATTTTTATGCTCTAAAATATGACAGATGTTATTTAACGTATATGGAGAAACATAACCAAACCTTCTAAGGGTGTTCTTTATTCTTTAAGACTTTAGTGCCCAGCAAAAGACTAAAATCAACAGTCTTGGAATATTTCAGCAAGAGATGTAGTAGGCATCTGTGATCCCATTTGAGTTTAAGAATTTAAAATACAGCAAACATCAAAATAGCAAACCTGCAAAAACTAGGCAATCATATAATTTGTTGATTGGTTTGATTCCAGAATTGACTTTAGCCACACACCTTCACTCAGTGGAGCTCTTTCATGAGAGTGAATAGTTGCTTGGAATGTACTTGGCAAGAACCAAGGATAAATGTCTTCCAAGGACAGTGGTCACTCGTCTTCCAGGGAAATACAAGTGCCCAGTCATCCTTCCTCCTATCCCTTACACCCACCCCCCAGCATCAACTACGTGGTACAGATGCCAGGAAGCCAGGTAACTGAGGACTTTCTTTATAGAATCCCAGTTAGTGAAAAAAGCCAGCCCTTAGCACCACAGTCTCATGCCTAATATGTGACTCTTCTAAATTACAGGCCTGAGGGCAAAGCCCATGGACAGGCTATGTACACACTGCTGGCAGCCCTGGGAGCCAGCCAGGTAAGTGCAAGCAGCAATTTAAAAGCCACATTTCTGGAGGGACAGCCTGAAGGAATGGGAAGTAAGGATACTTACTCCACCAAGACCAGGGGGACCAGGGGGGCCGGGAGGACCAGGGGGGCCAGGATTTCCAGGGGTCCCAGGTTCTCCATCTCTGCCACGAGGTCCAGGGGCACCCTTGGCATAAAGAGAAAAAGGCATCAATGGGAAGCAGTGTTTCTCCAAGAGCCATCTGTCCCTTGGCTGCTCTTTAAGAGGTGACCAGGCCCTTAAACACATG
|
Task1_train_17507
|
This variant impacts the gene COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; Stickler syndrome type 1
|
GTTCCACTGAGCTCCACAGTGTCTCCCTGGCTAGGAAGAGGGGCTCCTCATTGTCTCCCTCCTCCCCATCCCATTGTACTTTCTGGCCTCTCACCTTCACACCAGGAGCACCCGCCTCTCCCTTAGCACCGTCCAGGCCTGGATAACCCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGGAAACCACGAGCACCCTGCAATCCAAAGTGGAGGTGTTCAGAGCACAGAGTAAAATAACAGTGGAAAGCTGCCCTGGGCTGCAGGAGGGCCTCCAGTTCCCTTGGGCCACCAGGGCGTTGTCTCGAATCCCCACACTTGGACAGCTCTTTCTGTAAAACCCAGACCACCCCTCCCCGTACCCCCCATTTTATGCAAAGTGGTATAAATAACAACTGCCCAGCCTCCCTCATGAGAGCCTGAGTGGAAATTACAAACATGGTCGTGATAAATATAGGGGCTACTGGCGTTTCATCTCAGAAGTGACCTCATTGAACTGGATGCACTGTGTTTAAGGCCACAGGGAGGGAGACGCTAGGAAAGATGCCTGAGGCTGGGAACGGTGGCGTTTACCTGAGGACCAGGCGGACCCCTTTCACCAGCTTTTCCAGGTTTTCCAGCTTCACCCTGAAGGGAGAGAGAGAGATATCCCAGCTTCCTCAGAGACGCAGTAGCATAGTGGGGGCACCCCAGAGGGCTTCCCTCCTTCCAGCCCTCCATGCCTTTGCCTACCGGCTCACTCATCTCCCTCACCTCCTTCAGACTCCACGTGCCTGGATGCCTTTCATGGGTCACCATTTATTCTTTTGGACACATGCATAGCCCATGGGCAAGCTCCTCTGTCCTCACCAGCCTCCAACTTCCCCTGAGAGGCTTTTTCTCTCCTCTCCTAGGTTCTGCTGACTGTATGTGCTCTCTCTAACCTCAAGAGACTTTTACTGTCTAATGCAATTCATAAAAATAGCACAAGAGTGCCAATTCTTGTCTCTTCATTTCGTTTGCATCCTTTGTAGACATCCTGACTCAGGCTGTGCTTTTTCTAACTCATTTACAATTAAGATAATGCTGGGTTGTTGAACGCTTCTTTCTTTGTTTTTCCTTCTCTACATCTTTCTGCCTTGTATTTTTTCTCTCCCTTCTCTCATTTCTCAATTTCCCTTCCTGGGGCTAATGATGTTTTAATTATTTGTCTTCCCCTTGGATCCAAAGCGGTCCCCAGGGAACTTGCCAGCACAGTCACAGTGGCCATATAGATAGGAGATGGCGTCAGGGTTTGGGACTGCCCAGTCTTGCTCCTCAAGATACCTCCACCCTGGGTGCCTCCCTGTCACTCCCCAAGCACACACCCTCTCCAGGCCCTTTCAAAGGAGGCAGCTCCTCATTTGTCTACTCGTGTATACTCACATCATCACCAGGCTTTCCAGGGGGACCAGGAGGACCACGGGGACCCATGGGACCCTACAAACAAAGGAAGATAGTTTAAGAGATGGTTATAGTGGGAAGACACCTAAGCAATGGACAAAACTTTGACATTGTAGTTTTGGAAGCCAGTTCTTCTATGAAGAAGAAAGATGGGAAGGTCAGAGCAAAGGTGCAGAGATCATAGTGGGACGCAGCAGATAGCACAGGCTGGGGTGACCCGGAAAGGGGGCTGTTAGGACAGAGTCCCTGGTGGTCCTTGCCACATTGGGCTGTCTGTCAGAGTTCCTCCACAGCTAGGAAGTGACATCCGAATTTCCTTGGGGCCACCGACTGTGGGAAAGAGCTGGGCAGAGCCTGGGAGGGACAGCAGCTGCGGTCCTAGTGGTCTATCATTAGAGGCTCCCCCAGAGAAGGGACAGGGCCGTGCTGGTACTCACAGAGACACCAGGTTCACCAGGTTCACCAGGATTGCCTTGAAATCCTTGAGGCCCCTAAAAAGTAAAATGAGGATACCAGGTCAATCCCTATAAACTGCTAAAACATCATAGTGCTTGGGAATCATCTGCGACACGATGGAGGCAAAAAGAATTGCAGATACTTACAGGAGCACCTGCAGGGCCTGGAGGTCCTCGAGGTCCCATGGGGCCCTGCATCGGAACAGAAAATGAGGGGTTTACTACACATGCTTCCTCAGTGGCCTCCAGTGTGCCATCTTCTCCCAGCCAACAGCCCGGGCAAAGGACAAGAAGTTACTCTGTGGGCAAGGGGCCTAGAGTGGCTGCTCCCTCTCATTTCCCACTCCCCACGCAACACTCTATTTTTATTTATAGGCACCATTTGGACAGAAAAGCTGGCCTTGCTTTCTCCTGGACAGCAGCCATGTTTACTAAAGGCTGAGTTTCATTTAGCATGTGCCAAGTCAGAGCTGCGGGCTGAGATTTCCTGCTGGAAGTCTGTGGATGCTGGAGAACAGTAGCTGCTGTCTGCATTCTTCAGTTCTCATTCCAAGAGCAATAGCAACTGGTCTTCTAACAGATCAGCCTATATGCATCTCCCCATCTTCATTCTTCTTAGTCACTCCAGCGCATCATTAAAAGTGGCATCCATTGCCATTAAAAACCAAATGCTTTGGGCTAGCTGAATGGGAGGTTACATAACTACGGAGGAGAGCCACTCTAAGCAATTATCTGTAAAGCAGAGGTTGTCAGACTCTCTGGCTCTGCTAAGGGCCACCTCCTGCCATTTTGGCTGCAAAGAACTAGTGTCTTTTCTTACCATTGGTCCTTGCATTACTCCCAACTGGGCGCCACCAGCCTTTTCATCAAATCCTCCAGCCATCTGGGCAGCAAAGTTCTGCAAAGAAACCCAACAACGTTAGGAGGTTGAAAGGCACTAGGTCTTCCCTACTTGGCTAGGTAAGCTCTATATGGATACAAAGAACTCTACTGAGATAAACTCTGATTGTTGGAGACTAACCTATCATTGATCAGAATTACCACTGATGCCTGGAAAGTAATTTTGGGAATGGATTATTAGATGACAGTGGCAAAATCATTTCACTGGAAGGGAAAGTGTTATTTGAGGAAGTATCAGTTCCTTGCATTTCATTTTATAAAATTATTTTTATGCTCTAAAATATGACAGATGTTATTTAACGTATATGGAGAAACATAACCAAACCTTCTAAGGGTGTTCTTTATTCTTTAAGACTTTAGTGCCCAGCAAAAGACTAAAATCAACAGTCTTGGAATATTTCAGCAAGAGATGTAGTAGGCATCTGTGATCCCATTTGAGTTTAAGAATTTAAAATACAGCAAACATCAAAATAGCAAACCTGCAAAAACTAGGCAATCATATAATTTGTTGATTGGTTTGATTCCAGAATTGACTTTAGCCACACACCTTCACTCAGTGGAGCTCTTTCATGAGAGTGAATAGTTGCTTGGAATGTACTTGGCAAGAACCAAGGATAAATGTCTTCCAAGGACAGTGGTCACTCGTCTTCCAGGGAAATACAAGTGCCCAGTCATCCTTCCTCCTATCCCTTACACCCACCCCCCAGCATCAACTACGTGGTACAGATGCCAGGAAGCCAGGTAACTGAGGACTTTCTTTATAGAATCCCAGTTAGTGAAAAAAGCCAGCCCTTAGCACCACAGTCTCATGCCTAATATGTGACTCTTCTAAATTACAGGCCTGAGGGCAAAGCCCATGGACAGGCTATGTACACACTGCTGGCAGCCCTGGGAGCCAGCCAGGTAAGTGCAAGCAGCAATTTAAAAGCCACATTTCTGGAGGGACAGCCTGAAGGAATGGGAAGTAAGGATACTTACTCCACCAAGACCAGGGGGACCAGGGGGGCCGGGAGGACCAGGGGGGCCAGGATTTCCAGGGGTCCCAGGTTCTCCATCTCTGCCACGAGGTCCAGGGGCACCCTTGGCATAAAGAGAAAAAGGCATCAATGGGAAGCAGTGTTTCTCCAAGAGCCATCTGTCCCTTGGCTGCTCTTTAAGAGGTGACCAGGCCCTTAAACACATG
|
GTTCCACTGAGCTCCACAGTGTCTCCCTGGCTAGGAAGAGGGGCTCCTCATTGTCTCCCTCCTCCCCATCCCATTGTACTTTCTGGCCTCTCACCTTCACACCAGGAGCACCCGCCTCTCCCTTAGCACCGTCCAGGCCTGGATAACCCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGGAAACCACGAGCACCCTGCAATCCAAAGTGGAGGTGTTCAGAGCACAGAGTAAAATAACAGTGGAAAGCTGCCCTGGGCTGCAGGAGGGCCTCCAGTTCCCTTGGGCCACCAGGGCGTTGTCTCGAATCCCCACACTTGGACAGCTCTTTCTGTAAAACCCAGACCACCCCTCCCCGTACCCCCCATTTTATGCAAAGTGGTATAAATAACAACTGCCCAGCCTCCCTCATGAGAGCCTGAGTGGAAATTACAAACATGGTCGTGATAAATATAGGGGCTACTGGCGTTTCATCTCAGAAGTGACCTCATTGAACTGGATGCACTGTGTTTAAGGCCACAGGGAGGGAGACGCTAGGAAAGATGCCTGAGGCTGGGAACGGTGGCGTTTACCTGAGGACCAGGCGGACCCCTTTCACCAGCTTTTCCAGGTTTTCCAGCTTCACCCTGAAGGGAGAGAGAGAGATATCCCAGCTTCCTCAGAGACGCAGTAGCATAGTGGGGGCACCCCAGAGGGCTTCCCTCCTTCCAGCCCTCCATGCCTTTGCCTACCGGCTCACTCATCTCCCTCACCTCCTTCAGACTCCACGTGCCTGGATGCCTTTCATGGGTCACCATTTATTCTTTTGGACACATGCATAGCCCATGGGCAAGCTCCTCTGTCCTCACCAGCCTCCAACTTCCCCTGAGAGGCTTTTTCTCTCCTCTCCTAGGTTCTGCTGACTGTATGTGCTCTCTCTAACCTCAAGAGACTTTTACTGTCTAATGCAATTCATAAAAATAGCACAAGAGTGCCAATTCTTGTCTCTTCATTTCGTTTGCATCCTTTGTAGACATCCTGACTCAGGCTGTGCTTTTTCTAACTCATTTACAATTAAGATAATGCTGGGTTGTTGAACGCTTCTTTCTTTGTTTTTCCTTCTCTACATCTTTCTGCCTTGTATTTTTTCTCTCCCTTCTCTCATTTCTCAATTTCCCTTCCTGGGGCTAATGATGTTTTAATTATTTGTCTTCCCCTTGGATCCAAAGCGGTCCCCAGGGAACTTGCCAGCACAGTCACAGTGGCCATATAGATAGGAGATGGCGTCAGGGTTTGGGACTGCCCAGTCTTGCTCCTCAAGATACCTCCACCCTGGGTGCCTCCCTGTCACTCCCCAAGCACACACCCTCTCCAGGCCCTTTCAAAGGAGGCAGCTCCTCATTTGTCTACTCGTGTATACTCACATCATCACCAGGCTTTCCAGGGGGACCAGGAGGACCACGGGGACCCATGGGACCCTACAAACAAAGGAAGATAGTTTAAGAGATGGTTATAGTGGGAAGACACCTAAGCAATGGACAAAACTTTGACATTGTAGTTTTGGAAGCCAGTTCTTCTATGAAGAAGAAAGATGGGAAGGTCAGAGCAAAGGTGCAGAGATCATAGTGGGACGCAGCAGATAGCACAGGCTGGGGTGACCCGGAAAGGGGGCTGTTAGGACAGAGTCCCTGGTGGTCCTTGCCACATTGGGCTGTCTGTCAGAGTTCCTCCACAGCTAGGAAGTGACATCCGAATTTCCTTGGGGCCACCGACTGTGGGAAAGAGCTGGGCAGAGCCTGGGAGGGACAGCAGCTGCGGTCCTAGTGGTCTATCATTAGAGGCTCCCCCAGAGAAGGGACAGGGCCGTGCTGGTACTCACAGAGACACCAGGTTCACCAGGTTCACCAGGATTGCCTTGAAATCCTTGAGGCCTCTAAAAAGTAAAATGAGGATACCAGGTCAATCCCTATAAACTGCTAAAACATCATAGTGCTTGGGAATCATCTGCGACACGATGGAGGCAAAAAGAATTGCAGATACTTACAGGAGCACCTGCAGGGCCTGGAGGTCCTCGAGGTCCCATGGGGCCCTGCATCGGAACAGAAAATGAGGGGTTTACTACACATGCTTCCTCAGTGGCCTCCAGTGTGCCATCTTCTCCCAGCCAACAGCCCGGGCAAAGGACAAGAAGTTACTCTGTGGGCAAGGGGCCTAGAGTGGCTGCTCCCTCTCATTTCCCACTCCCCACGCAACACTCTATTTTTATTTATAGGCACCATTTGGACAGAAAAGCTGGCCTTGCTTTCTCCTGGACAGCAGCCATGTTTACTAAAGGCTGAGTTTCATTTAGCATGTGCCAAGTCAGAGCTGCGGGCTGAGATTTCCTGCTGGAAGTCTGTGGATGCTGGAGAACAGTAGCTGCTGTCTGCATTCTTCAGTTCTCATTCCAAGAGCAATAGCAACTGGTCTTCTAACAGATCAGCCTATATGCATCTCCCCATCTTCATTCTTCTTAGTCACTCCAGCGCATCATTAAAAGTGGCATCCATTGCCATTAAAAACCAAATGCTTTGGGCTAGCTGAATGGGAGGTTACATAACTACGGAGGAGAGCCACTCTAAGCAATTATCTGTAAAGCAGAGGTTGTCAGACTCTCTGGCTCTGCTAAGGGCCACCTCCTGCCATTTTGGCTGCAAAGAACTAGTGTCTTTTCTTACCATTGGTCCTTGCATTACTCCCAACTGGGCGCCACCAGCCTTTTCATCAAATCCTCCAGCCATCTGGGCAGCAAAGTTCTGCAAAGAAACCCAACAACGTTAGGAGGTTGAAAGGCACTAGGTCTTCCCTACTTGGCTAGGTAAGCTCTATATGGATACAAAGAACTCTACTGAGATAAACTCTGATTGTTGGAGACTAACCTATCATTGATCAGAATTACCACTGATGCCTGGAAAGTAATTTTGGGAATGGATTATTAGATGACAGTGGCAAAATCATTTCACTGGAAGGGAAAGTGTTATTTGAGGAAGTATCAGTTCCTTGCATTTCATTTTATAAAATTATTTTTATGCTCTAAAATATGACAGATGTTATTTAACGTATATGGAGAAACATAACCAAACCTTCTAAGGGTGTTCTTTATTCTTTAAGACTTTAGTGCCCAGCAAAAGACTAAAATCAACAGTCTTGGAATATTTCAGCAAGAGATGTAGTAGGCATCTGTGATCCCATTTGAGTTTAAGAATTTAAAATACAGCAAACATCAAAATAGCAAACCTGCAAAAACTAGGCAATCATATAATTTGTTGATTGGTTTGATTCCAGAATTGACTTTAGCCACACACCTTCACTCAGTGGAGCTCTTTCATGAGAGTGAATAGTTGCTTGGAATGTACTTGGCAAGAACCAAGGATAAATGTCTTCCAAGGACAGTGGTCACTCGTCTTCCAGGGAAATACAAGTGCCCAGTCATCCTTCCTCCTATCCCTTACACCCACCCCCCAGCATCAACTACGTGGTACAGATGCCAGGAAGCCAGGTAACTGAGGACTTTCTTTATAGAATCCCAGTTAGTGAAAAAAGCCAGCCCTTAGCACCACAGTCTCATGCCTAATATGTGACTCTTCTAAATTACAGGCCTGAGGGCAAAGCCCATGGACAGGCTATGTACACACTGCTGGCAGCCCTGGGAGCCAGCCAGGTAAGTGCAAGCAGCAATTTAAAAGCCACATTTCTGGAGGGACAGCCTGAAGGAATGGGAAGTAAGGATACTTACTCCACCAAGACCAGGGGGACCAGGGGGGCCGGGAGGACCAGGGGGGCCAGGATTTCCAGGGGTCCCAGGTTCTCCATCTCTGCCACGAGGTCCAGGGGCACCCTTGGCATAAAGAGAAAAAGGCATCAATGGGAAGCAGTGTTTCTCCAAGAGCCATCTGTCCCTTGGCTGCTCTTTAAGAGGTGACCAGGCCCTTAAACACATG
|
Task1_train_17508
|
This mutation occurs in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; Spondyloepiphyseal dysplasia with metatarsal shortening
|
CCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGGAAACCACGAGCACCCTGCAATCCAAAGTGGAGGTGTTCAGAGCACAGAGTAAAATAACAGTGGAAAGCTGCCCTGGGCTGCAGGAGGGCCTCCAGTTCCCTTGGGCCACCAGGGCGTTGTCTCGAATCCCCACACTTGGACAGCTCTTTCTGTAAAACCCAGACCACCCCTCCCCGTACCCCCCATTTTATGCAAAGTGGTATAAATAACAACTGCCCAGCCTCCCTCATGAGAGCCTGAGTGGAAATTACAAACATGGTCGTGATAAATATAGGGGCTACTGGCGTTTCATCTCAGAAGTGACCTCATTGAACTGGATGCACTGTGTTTAAGGCCACAGGGAGGGAGACGCTAGGAAAGATGCCTGAGGCTGGGAACGGTGGCGTTTACCTGAGGACCAGGCGGACCCCTTTCACCAGCTTTTCCAGGTTTTCCAGCTTCACCCTGAAGGGAGAGAGAGAGATATCCCAGCTTCCTCAGAGACGCAGTAGCATAGTGGGGGCACCCCAGAGGGCTTCCCTCCTTCCAGCCCTCCATGCCTTTGCCTACCGGCTCACTCATCTCCCTCACCTCCTTCAGACTCCACGTGCCTGGATGCCTTTCATGGGTCACCATTTATTCTTTTGGACACATGCATAGCCCATGGGCAAGCTCCTCTGTCCTCACCAGCCTCCAACTTCCCCTGAGAGGCTTTTTCTCTCCTCTCCTAGGTTCTGCTGACTGTATGTGCTCTCTCTAACCTCAAGAGACTTTTACTGTCTAATGCAATTCATAAAAATAGCACAAGAGTGCCAATTCTTGTCTCTTCATTTCGTTTGCATCCTTTGTAGACATCCTGACTCAGGCTGTGCTTTTTCTAACTCATTTACAATTAAGATAATGCTGGGTTGTTGAACGCTTCTTTCTTTGTTTTTCCTTCTCTACATCTTTCTGCCTTGTATTTTTTCTCTCCCTTCTCTCATTTCTCAATTTCCCTTCCTGGGGCTAATGATGTTTTAATTATTTGTCTTCCCCTTGGATCCAAAGCGGTCCCCAGGGAACTTGCCAGCACAGTCACAGTGGCCATATAGATAGGAGATGGCGTCAGGGTTTGGGACTGCCCAGTCTTGCTCCTCAAGATACCTCCACCCTGGGTGCCTCCCTGTCACTCCCCAAGCACACACCCTCTCCAGGCCCTTTCAAAGGAGGCAGCTCCTCATTTGTCTACTCGTGTATACTCACATCATCACCAGGCTTTCCAGGGGGACCAGGAGGACCACGGGGACCCATGGGACCCTACAAACAAAGGAAGATAGTTTAAGAGATGGTTATAGTGGGAAGACACCTAAGCAATGGACAAAACTTTGACATTGTAGTTTTGGAAGCCAGTTCTTCTATGAAGAAGAAAGATGGGAAGGTCAGAGCAAAGGTGCAGAGATCATAGTGGGACGCAGCAGATAGCACAGGCTGGGGTGACCCGGAAAGGGGGCTGTTAGGACAGAGTCCCTGGTGGTCCTTGCCACATTGGGCTGTCTGTCAGAGTTCCTCCACAGCTAGGAAGTGACATCCGAATTTCCTTGGGGCCACCGACTGTGGGAAAGAGCTGGGCAGAGCCTGGGAGGGACAGCAGCTGCGGTCCTAGTGGTCTATCATTAGAGGCTCCCCCAGAGAAGGGACAGGGCCGTGCTGGTACTCACAGAGACACCAGGTTCACCAGGTTCACCAGGATTGCCTTGAAATCCTTGAGGCCCCTAAAAAGTAAAATGAGGATACCAGGTCAATCCCTATAAACTGCTAAAACATCATAGTGCTTGGGAATCATCTGCGACACGATGGAGGCAAAAAGAATTGCAGATACTTACAGGAGCACCTGCAGGGCCTGGAGGTCCTCGAGGTCCCATGGGGCCCTGCATCGGAACAGAAAATGAGGGGTTTACTACACATGCTTCCTCAGTGGCCTCCAGTGTGCCATCTTCTCCCAGCCAACAGCCCGGGCAAAGGACAAGAAGTTACTCTGTGGGCAAGGGGCCTAGAGTGGCTGCTCCCTCTCATTTCCCACTCCCCACGCAACACTCTATTTTTATTTATAGGCACCATTTGGACAGAAAAGCTGGCCTTGCTTTCTCCTGGACAGCAGCCATGTTTACTAAAGGCTGAGTTTCATTTAGCATGTGCCAAGTCAGAGCTGCGGGCTGAGATTTCCTGCTGGAAGTCTGTGGATGCTGGAGAACAGTAGCTGCTGTCTGCATTCTTCAGTTCTCATTCCAAGAGCAATAGCAACTGGTCTTCTAACAGATCAGCCTATATGCATCTCCCCATCTTCATTCTTCTTAGTCACTCCAGCGCATCATTAAAAGTGGCATCCATTGCCATTAAAAACCAAATGCTTTGGGCTAGCTGAATGGGAGGTTACATAACTACGGAGGAGAGCCACTCTAAGCAATTATCTGTAAAGCAGAGGTTGTCAGACTCTCTGGCTCTGCTAAGGGCCACCTCCTGCCATTTTGGCTGCAAAGAACTAGTGTCTTTTCTTACCATTGGTCCTTGCATTACTCCCAACTGGGCGCCACCAGCCTTTTCATCAAATCCTCCAGCCATCTGGGCAGCAAAGTTCTGCAAAGAAACCCAACAACGTTAGGAGGTTGAAAGGCACTAGGTCTTCCCTACTTGGCTAGGTAAGCTCTATATGGATACAAAGAACTCTACTGAGATAAACTCTGATTGTTGGAGACTAACCTATCATTGATCAGAATTACCACTGATGCCTGGAAAGTAATTTTGGGAATGGATTATTAGATGACAGTGGCAAAATCATTTCACTGGAAGGGAAAGTGTTATTTGAGGAAGTATCAGTTCCTTGCATTTCATTTTATAAAATTATTTTTATGCTCTAAAATATGACAGATGTTATTTAACGTATATGGAGAAACATAACCAAACCTTCTAAGGGTGTTCTTTATTCTTTAAGACTTTAGTGCCCAGCAAAAGACTAAAATCAACAGTCTTGGAATATTTCAGCAAGAGATGTAGTAGGCATCTGTGATCCCATTTGAGTTTAAGAATTTAAAATACAGCAAACATCAAAATAGCAAACCTGCAAAAACTAGGCAATCATATAATTTGTTGATTGGTTTGATTCCAGAATTGACTTTAGCCACACACCTTCACTCAGTGGAGCTCTTTCATGAGAGTGAATAGTTGCTTGGAATGTACTTGGCAAGAACCAAGGATAAATGTCTTCCAAGGACAGTGGTCACTCGTCTTCCAGGGAAATACAAGTGCCCAGTCATCCTTCCTCCTATCCCTTACACCCACCCCCCAGCATCAACTACGTGGTACAGATGCCAGGAAGCCAGGTAACTGAGGACTTTCTTTATAGAATCCCAGTTAGTGAAAAAAGCCAGCCCTTAGCACCACAGTCTCATGCCTAATATGTGACTCTTCTAAATTACAGGCCTGAGGGCAAAGCCCATGGACAGGCTATGTACACACTGCTGGCAGCCCTGGGAGCCAGCCAGGTAAGTGCAAGCAGCAATTTAAAAGCCACATTTCTGGAGGGACAGCCTGAAGGAATGGGAAGTAAGGATACTTACTCCACCAAGACCAGGGGGACCAGGGGGGCCGGGAGGACCAGGGGGGCCAGGATTTCCAGGGGTCCCAGGTTCTCCATCTCTGCCACGAGGTCCAGGGGCACCCTTGGCATAAAGAGAAAAAGGCATCAATGGGAAGCAGTGTTTCTCCAAGAGCCATCTGTCCCTTGGCTGCTCTTTAAGAGGTGACCAGGCCCTTAAACACATGGTGGGGCCTTGGGGGACCTGGGAAGTCCACCAGGGTCAAGCAGCATTGCTTTTTACTCACTTTTTCACCTTTGTCACCACGATCCCCTCTGGGTCCTTGTTCCCCTGCAGGTCCCTGAAGGTGAAGAACATGGTAAGATGACAGCAA
|
CCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGGAAACCACGAGCACCCTGCAATCCAAAGTGGAGGTGTTCAGAGCACAGAGTAAAATAACAGTGGAAAGCTGCCCTGGGCTGCAGGAGGGCCTCCAGTTCCCTTGGGCCACCAGGGCGTTGTCTCGAATCCCCACACTTGGACAGCTCTTTCTGTAAAACCCAGACCACCCCTCCCCGTACCCCCCATTTTATGCAAAGTGGTATAAATAACAACTGCCCAGCCTCCCTCATGAGAGCCTGAGTGGAAATTACAAACATGGTCGTGATAAATATAGGGGCTACTGGCGTTTCATCTCAGAAGTGACCTCATTGAACTGGATGCACTGTGTTTAAGGCCACAGGGAGGGAGACGCTAGGAAAGATGCCTGAGGCTGGGAACGGTGGCGTTTACCTGAGGACCAGGCGGACCCCTTTCACCAGCTTTTCCAGGTTTTCCAGCTTCACCCTGAAGGGAGAGAGAGAGATATCCCAGCTTCCTCAGAGACGCAGTAGCATAGTGGGGGCACCCCAGAGGGCTTCCCTCCTTCCAGCCCTCCATGCCTTTGCCTACCGGCTCACTCATCTCCCTCACCTCCTTCAGACTCCACGTGCCTGGATGCCTTTCATGGGTCACCATTTATTCTTTTGGACACATGCATAGCCCATGGGCAAGCTCCTCTGTCCTCACCAGCCTCCAACTTCCCCTGAGAGGCTTTTTCTCTCCTCTCCTAGGTTCTGCTGACTGTATGTGCTCTCTCTAACCTCAAGAGACTTTTACTGTCTAATGCAATTCATAAAAATAGCACAAGAGTGCCAATTCTTGTCTCTTCATTTCGTTTGCATCCTTTGTAGACATCCTGACTCAGGCTGTGCTTTTTCTAACTCATTTACAATTAAGATAATGCTGGGTTGTTGAACGCTTCTTTCTTTGTTTTTCCTTCTCTACATCTTTCTGCCTTGTATTTTTTCTCTCCCTTCTCTCATTTCTCAATTTCCCTTCCTGGGGCTAATGATGTTTTAATTATTTGTCTTCCCCTTGGATCCAAAGCGGTCCCCAGGGAACTTGCCAGCACAGTCACAGTGGCCATATAGATAGGAGATGGCGTCAGGGTTTGGGACTGCCCAGTCTTGCTCCTCAAGATACCTCCACCCTGGGTGCCTCCCTGTCACTCCCCAAGCACACACCCTCTCCAGGCCCTTTCAAAGGAGGCAGCTCCTCATTTGTCTACTCGTGTATACTCACATCATCACCAGGCTTTCCAGGGGGACCAGGAGGACCACGGGGACCCATGGGACCCTACAAACAAAGGAAGATAGTTTAAGAGATGGTTATAGTGGGAAGACACCTAAGCAATGGACAAAACTTTGACATTGTAGTTTTGGAAGCCAGTTCTTCTATGAAGAAGAAAGATGGGAAGGTCAGAGCAAAGGTGCAGAGATCATAGTGGGACGCAGCAGATAGCACAGGCTGGGGTGACCCGGAAAGGGGGCTGTTAGGACAGAGTCCCTGGTGGTCCTTGCCACATTGGGCTGTCTGTCAGAGTTCCTCCACAGCTAGGAAGTGACATCCGAATTTCCTTGGGGCCACCGACTGTGGGAAAGAGCTGGGCAGAGCCTGGGAGGGACAGCAGCTGCGGTCCTAGTGGTCTATCATTAGAGGCTCCCCCAGAGAAGGGACAGGGCCGTGCTGGTACTCACAGAGACACCAGGTTCACCAGGTTCACCAGGATTGCCTTGAAATCCTTGAGGCCCCTAAAAAGTAAAATGAGGATACCAGGTCAATCCCTATAAACTGCTAAAACATCATAGTGCTTGGGAATCATCTGCGACACGATGGAGGCAAAAAGAATTGCAGATACTTACAGGAGCACCTGCAGGGCCTGGAGGTCCTCGAGGTCGCATGGGGCCCTGCATCGGAACAGAAAATGAGGGGTTTACTACACATGCTTCCTCAGTGGCCTCCAGTGTGCCATCTTCTCCCAGCCAACAGCCCGGGCAAAGGACAAGAAGTTACTCTGTGGGCAAGGGGCCTAGAGTGGCTGCTCCCTCTCATTTCCCACTCCCCACGCAACACTCTATTTTTATTTATAGGCACCATTTGGACAGAAAAGCTGGCCTTGCTTTCTCCTGGACAGCAGCCATGTTTACTAAAGGCTGAGTTTCATTTAGCATGTGCCAAGTCAGAGCTGCGGGCTGAGATTTCCTGCTGGAAGTCTGTGGATGCTGGAGAACAGTAGCTGCTGTCTGCATTCTTCAGTTCTCATTCCAAGAGCAATAGCAACTGGTCTTCTAACAGATCAGCCTATATGCATCTCCCCATCTTCATTCTTCTTAGTCACTCCAGCGCATCATTAAAAGTGGCATCCATTGCCATTAAAAACCAAATGCTTTGGGCTAGCTGAATGGGAGGTTACATAACTACGGAGGAGAGCCACTCTAAGCAATTATCTGTAAAGCAGAGGTTGTCAGACTCTCTGGCTCTGCTAAGGGCCACCTCCTGCCATTTTGGCTGCAAAGAACTAGTGTCTTTTCTTACCATTGGTCCTTGCATTACTCCCAACTGGGCGCCACCAGCCTTTTCATCAAATCCTCCAGCCATCTGGGCAGCAAAGTTCTGCAAAGAAACCCAACAACGTTAGGAGGTTGAAAGGCACTAGGTCTTCCCTACTTGGCTAGGTAAGCTCTATATGGATACAAAGAACTCTACTGAGATAAACTCTGATTGTTGGAGACTAACCTATCATTGATCAGAATTACCACTGATGCCTGGAAAGTAATTTTGGGAATGGATTATTAGATGACAGTGGCAAAATCATTTCACTGGAAGGGAAAGTGTTATTTGAGGAAGTATCAGTTCCTTGCATTTCATTTTATAAAATTATTTTTATGCTCTAAAATATGACAGATGTTATTTAACGTATATGGAGAAACATAACCAAACCTTCTAAGGGTGTTCTTTATTCTTTAAGACTTTAGTGCCCAGCAAAAGACTAAAATCAACAGTCTTGGAATATTTCAGCAAGAGATGTAGTAGGCATCTGTGATCCCATTTGAGTTTAAGAATTTAAAATACAGCAAACATCAAAATAGCAAACCTGCAAAAACTAGGCAATCATATAATTTGTTGATTGGTTTGATTCCAGAATTGACTTTAGCCACACACCTTCACTCAGTGGAGCTCTTTCATGAGAGTGAATAGTTGCTTGGAATGTACTTGGCAAGAACCAAGGATAAATGTCTTCCAAGGACAGTGGTCACTCGTCTTCCAGGGAAATACAAGTGCCCAGTCATCCTTCCTCCTATCCCTTACACCCACCCCCCAGCATCAACTACGTGGTACAGATGCCAGGAAGCCAGGTAACTGAGGACTTTCTTTATAGAATCCCAGTTAGTGAAAAAAGCCAGCCCTTAGCACCACAGTCTCATGCCTAATATGTGACTCTTCTAAATTACAGGCCTGAGGGCAAAGCCCATGGACAGGCTATGTACACACTGCTGGCAGCCCTGGGAGCCAGCCAGGTAAGTGCAAGCAGCAATTTAAAAGCCACATTTCTGGAGGGACAGCCTGAAGGAATGGGAAGTAAGGATACTTACTCCACCAAGACCAGGGGGACCAGGGGGGCCGGGAGGACCAGGGGGGCCAGGATTTCCAGGGGTCCCAGGTTCTCCATCTCTGCCACGAGGTCCAGGGGCACCCTTGGCATAAAGAGAAAAAGGCATCAATGGGAAGCAGTGTTTCTCCAAGAGCCATCTGTCCCTTGGCTGCTCTTTAAGAGGTGACCAGGCCCTTAAACACATGGTGGGGCCTTGGGGGACCTGGGAAGTCCACCAGGGTCAAGCAGCATTGCTTTTTACTCACTTTTTCACCTTTGTCACCACGATCCCCTCTGGGTCCTTGTTCCCCTGCAGGTCCCTGAAGGTGAAGAACATGGTAAGATGACAGCAA
|
Task1_train_17509
|
Gene COL2A1 (collagen type II alpha 1 chain), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; Spondyloepiphyseal dysplasia, Stanescu type
|
CCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGGAAACCACGAGCACCCTGCAATCCAAAGTGGAGGTGTTCAGAGCACAGAGTAAAATAACAGTGGAAAGCTGCCCTGGGCTGCAGGAGGGCCTCCAGTTCCCTTGGGCCACCAGGGCGTTGTCTCGAATCCCCACACTTGGACAGCTCTTTCTGTAAAACCCAGACCACCCCTCCCCGTACCCCCCATTTTATGCAAAGTGGTATAAATAACAACTGCCCAGCCTCCCTCATGAGAGCCTGAGTGGAAATTACAAACATGGTCGTGATAAATATAGGGGCTACTGGCGTTTCATCTCAGAAGTGACCTCATTGAACTGGATGCACTGTGTTTAAGGCCACAGGGAGGGAGACGCTAGGAAAGATGCCTGAGGCTGGGAACGGTGGCGTTTACCTGAGGACCAGGCGGACCCCTTTCACCAGCTTTTCCAGGTTTTCCAGCTTCACCCTGAAGGGAGAGAGAGAGATATCCCAGCTTCCTCAGAGACGCAGTAGCATAGTGGGGGCACCCCAGAGGGCTTCCCTCCTTCCAGCCCTCCATGCCTTTGCCTACCGGCTCACTCATCTCCCTCACCTCCTTCAGACTCCACGTGCCTGGATGCCTTTCATGGGTCACCATTTATTCTTTTGGACACATGCATAGCCCATGGGCAAGCTCCTCTGTCCTCACCAGCCTCCAACTTCCCCTGAGAGGCTTTTTCTCTCCTCTCCTAGGTTCTGCTGACTGTATGTGCTCTCTCTAACCTCAAGAGACTTTTACTGTCTAATGCAATTCATAAAAATAGCACAAGAGTGCCAATTCTTGTCTCTTCATTTCGTTTGCATCCTTTGTAGACATCCTGACTCAGGCTGTGCTTTTTCTAACTCATTTACAATTAAGATAATGCTGGGTTGTTGAACGCTTCTTTCTTTGTTTTTCCTTCTCTACATCTTTCTGCCTTGTATTTTTTCTCTCCCTTCTCTCATTTCTCAATTTCCCTTCCTGGGGCTAATGATGTTTTAATTATTTGTCTTCCCCTTGGATCCAAAGCGGTCCCCAGGGAACTTGCCAGCACAGTCACAGTGGCCATATAGATAGGAGATGGCGTCAGGGTTTGGGACTGCCCAGTCTTGCTCCTCAAGATACCTCCACCCTGGGTGCCTCCCTGTCACTCCCCAAGCACACACCCTCTCCAGGCCCTTTCAAAGGAGGCAGCTCCTCATTTGTCTACTCGTGTATACTCACATCATCACCAGGCTTTCCAGGGGGACCAGGAGGACCACGGGGACCCATGGGACCCTACAAACAAAGGAAGATAGTTTAAGAGATGGTTATAGTGGGAAGACACCTAAGCAATGGACAAAACTTTGACATTGTAGTTTTGGAAGCCAGTTCTTCTATGAAGAAGAAAGATGGGAAGGTCAGAGCAAAGGTGCAGAGATCATAGTGGGACGCAGCAGATAGCACAGGCTGGGGTGACCCGGAAAGGGGGCTGTTAGGACAGAGTCCCTGGTGGTCCTTGCCACATTGGGCTGTCTGTCAGAGTTCCTCCACAGCTAGGAAGTGACATCCGAATTTCCTTGGGGCCACCGACTGTGGGAAAGAGCTGGGCAGAGCCTGGGAGGGACAGCAGCTGCGGTCCTAGTGGTCTATCATTAGAGGCTCCCCCAGAGAAGGGACAGGGCCGTGCTGGTACTCACAGAGACACCAGGTTCACCAGGTTCACCAGGATTGCCTTGAAATCCTTGAGGCCCCTAAAAAGTAAAATGAGGATACCAGGTCAATCCCTATAAACTGCTAAAACATCATAGTGCTTGGGAATCATCTGCGACACGATGGAGGCAAAAAGAATTGCAGATACTTACAGGAGCACCTGCAGGGCCTGGAGGTCCTCGAGGTCCCATGGGGCCCTGCATCGGAACAGAAAATGAGGGGTTTACTACACATGCTTCCTCAGTGGCCTCCAGTGTGCCATCTTCTCCCAGCCAACAGCCCGGGCAAAGGACAAGAAGTTACTCTGTGGGCAAGGGGCCTAGAGTGGCTGCTCCCTCTCATTTCCCACTCCCCACGCAACACTCTATTTTTATTTATAGGCACCATTTGGACAGAAAAGCTGGCCTTGCTTTCTCCTGGACAGCAGCCATGTTTACTAAAGGCTGAGTTTCATTTAGCATGTGCCAAGTCAGAGCTGCGGGCTGAGATTTCCTGCTGGAAGTCTGTGGATGCTGGAGAACAGTAGCTGCTGTCTGCATTCTTCAGTTCTCATTCCAAGAGCAATAGCAACTGGTCTTCTAACAGATCAGCCTATATGCATCTCCCCATCTTCATTCTTCTTAGTCACTCCAGCGCATCATTAAAAGTGGCATCCATTGCCATTAAAAACCAAATGCTTTGGGCTAGCTGAATGGGAGGTTACATAACTACGGAGGAGAGCCACTCTAAGCAATTATCTGTAAAGCAGAGGTTGTCAGACTCTCTGGCTCTGCTAAGGGCCACCTCCTGCCATTTTGGCTGCAAAGAACTAGTGTCTTTTCTTACCATTGGTCCTTGCATTACTCCCAACTGGGCGCCACCAGCCTTTTCATCAAATCCTCCAGCCATCTGGGCAGCAAAGTTCTGCAAAGAAACCCAACAACGTTAGGAGGTTGAAAGGCACTAGGTCTTCCCTACTTGGCTAGGTAAGCTCTATATGGATACAAAGAACTCTACTGAGATAAACTCTGATTGTTGGAGACTAACCTATCATTGATCAGAATTACCACTGATGCCTGGAAAGTAATTTTGGGAATGGATTATTAGATGACAGTGGCAAAATCATTTCACTGGAAGGGAAAGTGTTATTTGAGGAAGTATCAGTTCCTTGCATTTCATTTTATAAAATTATTTTTATGCTCTAAAATATGACAGATGTTATTTAACGTATATGGAGAAACATAACCAAACCTTCTAAGGGTGTTCTTTATTCTTTAAGACTTTAGTGCCCAGCAAAAGACTAAAATCAACAGTCTTGGAATATTTCAGCAAGAGATGTAGTAGGCATCTGTGATCCCATTTGAGTTTAAGAATTTAAAATACAGCAAACATCAAAATAGCAAACCTGCAAAAACTAGGCAATCATATAATTTGTTGATTGGTTTGATTCCAGAATTGACTTTAGCCACACACCTTCACTCAGTGGAGCTCTTTCATGAGAGTGAATAGTTGCTTGGAATGTACTTGGCAAGAACCAAGGATAAATGTCTTCCAAGGACAGTGGTCACTCGTCTTCCAGGGAAATACAAGTGCCCAGTCATCCTTCCTCCTATCCCTTACACCCACCCCCCAGCATCAACTACGTGGTACAGATGCCAGGAAGCCAGGTAACTGAGGACTTTCTTTATAGAATCCCAGTTAGTGAAAAAAGCCAGCCCTTAGCACCACAGTCTCATGCCTAATATGTGACTCTTCTAAATTACAGGCCTGAGGGCAAAGCCCATGGACAGGCTATGTACACACTGCTGGCAGCCCTGGGAGCCAGCCAGGTAAGTGCAAGCAGCAATTTAAAAGCCACATTTCTGGAGGGACAGCCTGAAGGAATGGGAAGTAAGGATACTTACTCCACCAAGACCAGGGGGACCAGGGGGGCCGGGAGGACCAGGGGGGCCAGGATTTCCAGGGGTCCCAGGTTCTCCATCTCTGCCACGAGGTCCAGGGGCACCCTTGGCATAAAGAGAAAAAGGCATCAATGGGAAGCAGTGTTTCTCCAAGAGCCATCTGTCCCTTGGCTGCTCTTTAAGAGGTGACCAGGCCCTTAAACACATGGTGGGGCCTTGGGGGACCTGGGAAGTCCACCAGGGTCAAGCAGCATTGCTTTTTACTCACTTTTTCACCTTTGTCACCACGATCCCCTCTGGGTCCTTGTTCCCCTGCAGGTCCCTGAAGGTGAAGAACATGGTAAGATGACAGCAA
|
CCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGGAAACCACGAGCACCCTGCAATCCAAAGTGGAGGTGTTCAGAGCACAGAGTAAAATAACAGTGGAAAGCTGCCCTGGGCTGCAGGAGGGCCTCCAGTTCCCTTGGGCCACCAGGGCGTTGTCTCGAATCCCCACACTTGGACAGCTCTTTCTGTAAAACCCAGACCACCCCTCCCCGTACCCCCCATTTTATGCAAAGTGGTATAAATAACAACTGCCCAGCCTCCCTCATGAGAGCCTGAGTGGAAATTACAAACATGGTCGTGATAAATATAGGGGCTACTGGCGTTTCATCTCAGAAGTGACCTCATTGAACTGGATGCACTGTGTTTAAGGCCACAGGGAGGGAGACGCTAGGAAAGATGCCTGAGGCTGGGAACGGTGGCGTTTACCTGAGGACCAGGCGGACCCCTTTCACCAGCTTTTCCAGGTTTTCCAGCTTCACCCTGAAGGGAGAGAGAGAGATATCCCAGCTTCCTCAGAGACGCAGTAGCATAGTGGGGGCACCCCAGAGGGCTTCCCTCCTTCCAGCCCTCCATGCCTTTGCCTACCGGCTCACTCATCTCCCTCACCTCCTTCAGACTCCACGTGCCTGGATGCCTTTCATGGGTCACCATTTATTCTTTTGGACACATGCATAGCCCATGGGCAAGCTCCTCTGTCCTCACCAGCCTCCAACTTCCCCTGAGAGGCTTTTTCTCTCCTCTCCTAGGTTCTGCTGACTGTATGTGCTCTCTCTAACCTCAAGAGACTTTTACTGTCTAATGCAATTCATAAAAATAGCACAAGAGTGCCAATTCTTGTCTCTTCATTTCGTTTGCATCCTTTGTAGACATCCTGACTCAGGCTGTGCTTTTTCTAACTCATTTACAATTAAGATAATGCTGGGTTGTTGAACGCTTCTTTCTTTGTTTTTCCTTCTCTACATCTTTCTGCCTTGTATTTTTTCTCTCCCTTCTCTCATTTCTCAATTTCCCTTCCTGGGGCTAATGATGTTTTAATTATTTGTCTTCCCCTTGGATCCAAAGCGGTCCCCAGGGAACTTGCCAGCACAGTCACAGTGGCCATATAGATAGGAGATGGCGTCAGGGTTTGGGACTGCCCAGTCTTGCTCCTCAAGATACCTCCACCCTGGGTGCCTCCCTGTCACTCCCCAAGCACACACCCTCTCCAGGCCCTTTCAAAGGAGGCAGCTCCTCATTTGTCTACTCGTGTATACTCACATCATCACCAGGCTTTCCAGGGGGACCAGGAGGACCACGGGGACCCATGGGACCCTACAAACAAAGGAAGATAGTTTAAGAGATGGTTATAGTGGGAAGACACCTAAGCAATGGACAAAACTTTGACATTGTAGTTTTGGAAGCCAGTTCTTCTATGAAGAAGAAAGATGGGAAGGTCAGAGCAAAGGTGCAGAGATCATAGTGGGACGCAGCAGATAGCACAGGCTGGGGTGACCCGGAAAGGGGGCTGTTAGGACAGAGTCCCTGGTGGTCCTTGCCACATTGGGCTGTCTGTCAGAGTTCCTCCACAGCTAGGAAGTGACATCCGAATTTCCTTGGGGCCACCGACTGTGGGAAAGAGCTGGGCAGAGCCTGGGAGGGACAGCAGCTGCGGTCCTAGTGGTCTATCATTAGAGGCTCCCCCAGAGAAGGGACAGGGCCGTGCTGGTACTCACAGAGACACCAGGTTCACCAGGTTCACCAGGATTGCCTTGAAATCCTTGAGGCCCCTAAAAAGTAAAATGAGGATACCAGGTCAATCCCTATAAACTGCTAAAACATCATAGTGCTTGGGAATCATCTGCGACACGATGGAGGCAAAAAGAATTGCAGATACTTACAGGAGCACCTGCAGGGCCTGGAGGTCCTCGAGGTCTCATGGGGCCCTGCATCGGAACAGAAAATGAGGGGTTTACTACACATGCTTCCTCAGTGGCCTCCAGTGTGCCATCTTCTCCCAGCCAACAGCCCGGGCAAAGGACAAGAAGTTACTCTGTGGGCAAGGGGCCTAGAGTGGCTGCTCCCTCTCATTTCCCACTCCCCACGCAACACTCTATTTTTATTTATAGGCACCATTTGGACAGAAAAGCTGGCCTTGCTTTCTCCTGGACAGCAGCCATGTTTACTAAAGGCTGAGTTTCATTTAGCATGTGCCAAGTCAGAGCTGCGGGCTGAGATTTCCTGCTGGAAGTCTGTGGATGCTGGAGAACAGTAGCTGCTGTCTGCATTCTTCAGTTCTCATTCCAAGAGCAATAGCAACTGGTCTTCTAACAGATCAGCCTATATGCATCTCCCCATCTTCATTCTTCTTAGTCACTCCAGCGCATCATTAAAAGTGGCATCCATTGCCATTAAAAACCAAATGCTTTGGGCTAGCTGAATGGGAGGTTACATAACTACGGAGGAGAGCCACTCTAAGCAATTATCTGTAAAGCAGAGGTTGTCAGACTCTCTGGCTCTGCTAAGGGCCACCTCCTGCCATTTTGGCTGCAAAGAACTAGTGTCTTTTCTTACCATTGGTCCTTGCATTACTCCCAACTGGGCGCCACCAGCCTTTTCATCAAATCCTCCAGCCATCTGGGCAGCAAAGTTCTGCAAAGAAACCCAACAACGTTAGGAGGTTGAAAGGCACTAGGTCTTCCCTACTTGGCTAGGTAAGCTCTATATGGATACAAAGAACTCTACTGAGATAAACTCTGATTGTTGGAGACTAACCTATCATTGATCAGAATTACCACTGATGCCTGGAAAGTAATTTTGGGAATGGATTATTAGATGACAGTGGCAAAATCATTTCACTGGAAGGGAAAGTGTTATTTGAGGAAGTATCAGTTCCTTGCATTTCATTTTATAAAATTATTTTTATGCTCTAAAATATGACAGATGTTATTTAACGTATATGGAGAAACATAACCAAACCTTCTAAGGGTGTTCTTTATTCTTTAAGACTTTAGTGCCCAGCAAAAGACTAAAATCAACAGTCTTGGAATATTTCAGCAAGAGATGTAGTAGGCATCTGTGATCCCATTTGAGTTTAAGAATTTAAAATACAGCAAACATCAAAATAGCAAACCTGCAAAAACTAGGCAATCATATAATTTGTTGATTGGTTTGATTCCAGAATTGACTTTAGCCACACACCTTCACTCAGTGGAGCTCTTTCATGAGAGTGAATAGTTGCTTGGAATGTACTTGGCAAGAACCAAGGATAAATGTCTTCCAAGGACAGTGGTCACTCGTCTTCCAGGGAAATACAAGTGCCCAGTCATCCTTCCTCCTATCCCTTACACCCACCCCCCAGCATCAACTACGTGGTACAGATGCCAGGAAGCCAGGTAACTGAGGACTTTCTTTATAGAATCCCAGTTAGTGAAAAAAGCCAGCCCTTAGCACCACAGTCTCATGCCTAATATGTGACTCTTCTAAATTACAGGCCTGAGGGCAAAGCCCATGGACAGGCTATGTACACACTGCTGGCAGCCCTGGGAGCCAGCCAGGTAAGTGCAAGCAGCAATTTAAAAGCCACATTTCTGGAGGGACAGCCTGAAGGAATGGGAAGTAAGGATACTTACTCCACCAAGACCAGGGGGACCAGGGGGGCCGGGAGGACCAGGGGGGCCAGGATTTCCAGGGGTCCCAGGTTCTCCATCTCTGCCACGAGGTCCAGGGGCACCCTTGGCATAAAGAGAAAAAGGCATCAATGGGAAGCAGTGTTTCTCCAAGAGCCATCTGTCCCTTGGCTGCTCTTTAAGAGGTGACCAGGCCCTTAAACACATGGTGGGGCCTTGGGGGACCTGGGAAGTCCACCAGGGTCAAGCAGCATTGCTTTTTACTCACTTTTTCACCTTTGTCACCACGATCCCCTCTGGGTCCTTGTTCCCCTGCAGGTCCCTGAAGGTGAAGAACATGGTAAGATGACAGCAA
|
Task1_train_17510
|
A variant was discovered in gene COL2A1 (collagen type II alpha 1 chain), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful.
|
Pathogenic; Stickler syndrome, type I, nonsyndromic ocular
|
CGAGGAAGGGACGGAGAAAGAGATTTCTCCCTCTCTTACCTGAGGCCCAGGAGGTCCTTTGGGTCCTACAATCTGTGAGAGAGAGCCCCACAGGATGGTAAGTTAGAGGAGAGCACAAGGAAATGACCCATTTAGAGCAGCAGCTGCAATACCGGGTGAGAATAATTTGCACTTACATCCTTGATGTCTCCAGGTTCTCCTTTCTGTCCCTGAAACATGAAACATTCACAGGATTAAGCCGAGTAAGCCCACTAAGCCCCTAGTCTAAAACCCTGCCAGCAGCCCCTGTGTTGAGGTACCCTCTGAAACAGATATCTTCTGATGTCTAAAAAATCACAGACTGGATTAACATAGCATTGCTTTTGAAGCAGAAAATATAAAGCCAAAAAAATATGAAAAAAGAAAAAGAAGAAAGCCCTTACCTTTGGTCCTGGTTGCCCTGCAAGGGAAAAAATATAGAGAAGAAGAAGGTAAGAATCTTGAGATGGAAAAATACCTATTCTTGTCACTCAAACACTCATTAGATCAAACAAGTAAAAGGACACAATCAAGGAAGGCGGCAGCTTCCTGTGACTCCACTGAACCCCTCTGTTGGGGTGTTAGGGCCACTGTGGCCCTGGGGTTGCTGAGGTCCCATGAGGAATGGAGGTGACCCAGACTTTGTTATTCAAAAAGCAGGCAGCATGCAAAAGAAAGGAGCAAGGGCAGCACAAAAAGGCAATGAAGAGCTCAAGATCTAATCAGCCACAAGAAGGAAAGCACAGATTCAGTCTCTCTTCCCCCCACAGGGTAGGGAGCCGTTCCCGAACCCCAAGCCCTCCCAGAGGAAGAGTTAGGTACTTAGAAAGGTCTTACATTAGAGCTGGGTCTCCTTGAAGCAAGCACAAATAAAAACACAAAAACAGCAAGGCATATGAGTTATGAAGAGCATCGGAGCATCATAGCCTGTGCCATCCCCAGTCAATAACCTCTCCTTCACAGTAGCAGCAAAATAGTAAAGGCAATCAACACTTCACTCACACGGGCCCCTCAGAAAGGATCTGGGAATCTGCACATTAGGGAGCCAGTGTTGGTGAAGTGTTAAGGAAAGGCAGCTTCTCACTTCCCTTGCCACGGCCTTCTCTACTTCAGCAGGAAGCGGACAGCAAGAGCTACCCAAAAAACCTACACAAGCGTCCCCACTCACTCTGCAGGGAGATAGGACATCTGTATGAATGCTGGGAAGGGGTCACCTGCACATATATCATCCACCAGCACTGGATCTAACTGGGAGTTTATAACCACCCACTACAGTGCAGATACATGGGGCTCTGTCTCCACCCGTCCCCACGAGAACTCCCAAAGCCTAGCCCTTCCCTCTCCTATTATTTTGCTTCTGAATTAATGGTCAACTCCAAGAGAGGTAATAGCAGAGAGGAAACTACCACCAATGTTCCATAACTCAAAGAGGGAGCCTCTGCCCCTGCAGTCTCCCCACTAGCTGGCAGAGCTTTCTCCACACTGAAGACCACATACATAGAAGTCTTCTAAGGAGAAGACAAGGTGTCGGTGGCAGAGGAGGAATTAATTCGTGGATTGGCCAGACAGAGCATTTGATCTCCATAGTGGCTCTAGTAATTTGCAGAGATGATTTCAGAGAGGATTTTTTTTTTTTTTTTTTTGTAGAATCACATCTGTCCTTCATGTGTCTTGGAAGCAAATGTTTTTGGAGATGTTGGGCAAAGAAGGACCCCTCTAGTGTCTCAGGCTCGTTCACTCAGTTTCAACCTGCAAGTGAGAAGTGGCCTTTCCTTTCTACCCCAGCTACCAGGTCCCATGGATAACTAGCCCCTCTGCTTTGCAGAGACGACCAGCATCTATGGGAGCGTGTTTGCAGTGCTTGCAAGTAATTTATTTATGTTGAACAGGAAATAAATAAATTACAACCACTGGCAGTGGCGAGGTCAGTTGGGCAGATGGGGCAGCACTCTCCGAAGGGGATCTCAGGGCTGAGGCAGTCTTTCACGTCTTCACAGATTATGTCGTCGCAGAGGACAGTCCCAGTGTCACAGACACAGATCCGGCAGGGCTCCGGCTTCCACACATCCTTATCATTATACCTCTGCCCATCCTGCACACAGCTGCCAGCCTCCTCTGCACCAAGGGTGGGGAGGGAGAAGCAGAGAGCCAAGGGAAGGAGGGGGTGGGGAGCCAGAGAGAAAAAGAGAGAGGTTGCAGTCAACTTGACAGAATTCAAATGCTGAAGAATGTAGGCTGGGGCCACCTGGACATATAGAACTTAAAAATTATTTTCCTAAAACATCATTGATTTTTCCATGTATTCAACAAATATTTATTATGCACCTTGCACCATGTTGTCTATTCACCAGTGAAAATCTTGACCCAGCAATGAAGGTGGGGGGTTACTATACTATATTCTCTTTACCCACCTAATACGGGGGAGACCAGGTGATGGAGTGGGTGGAGGGAGTTGGAGGGTGAGCGGAAGGGAGGAGACAAGATATTCTGAATAGGAATTCTGGGACTATAAAAAGAAAGGAGACAGAAAAATGGCGAGACCTCCCTTCCACCAGCCCAGGAGCAGAGAAGTCTTCTTTCTTCTGCCTTCCTCTGGGAATTATGGGATTAGCTAAATACAACTGACAACTAACATTCAGAGGGAATGTAGAAAATTCTACCTACAAAAATTGGAATCTATAAGCAGTGAGGCTCCAAAAATAGGTATATAAGAAAGGGGGGTGAAAAGACGAGCTATTAGAATTAGGATCTTGTCTCATTCTTTGAACCATATTAGAATTAGGACCAATTTGGGGAGGGGGATAGACCCATTCAAACAATACACTTGGGGCTTGGGCAGGCTAATAAACTGCTTAGGAGGCCAGTGGAGCCAAAGCGCCCCCAGTGCTGACCTCCACCTGTAGCCCTGCCTGGAGAGGCCCTGCCTCCATCTGAAAACAGCACCCCAGTTTGGGGAGCAGGGGTCGTTGAATACCTGGCTAGGGCTAAGATTGGCCAGTCCAGGCCTGGCCTCCTCCAAGACTGCAGAGGAAGAATAGCAGGGACTAGTCTCCTCCACCAGCGCCCTGCCGTCTGGAATTCATGCTGCAAATGAAACCTGTGCTGACAAGAGCGCTCCTTAGCAGCCAAGGGCTGTAGAGCCCGCACCACGTGCTAGGGAGCGCCCAGCGCTGTTTTTCTCATCAAAATCCCCAAGGCAATAGCAGCAGCAGGGGATGAATAATAGGAAAGAGCCACAAACCCAGAGGGCGAGAAAGAAACGAGCCTGCCCACTGCTCTTTAAAGAGAGTGAAAATCCAAAGATAAACTTTCCTTTTTACTTTCCCACTAGAAGAAATCCGCCTAGCCTTTGGGCAAGATAATCACAGGAGGGTGAGGGATTCCAGGGAAAATACAGAAGTTGCGGGGACACACCCGCCGTTAAAATAGCTGGAGCAGTGGAATGCAGGCGGTGAGGAAGGTGTGGGAGAGGGGGCATCGGTTAATGCGCTCCAGCCCAGACTACAGGAGAGCCCACCCTCGCCCATGAGGACCCAGGGAGGAGAGGGGGAAATGCTAGGAGAGGGGCCACTCCCCGTGCGGATCAGATTTCCCGGGGAAGGGCGGCCCGGGAAGCGCCGGCGCAGGGGCGGGGCCAGGCTGCGCTGGGTGTAAGAGCCGCTGAGTGACTCTGTGGCTGCGGCTCTGGACACGGCTCGCTCACAGACACCGGGAGAGTGAAAAGTGGGATTAAATGACTGCCCCAGAAAGGAGCCAGCGCCGTAACCGGATCCCCTAGGTGTGGACGGAGGAGCCCAGCACCACCATAATTGCTGCTCCAAAACGGCTGCCGATAGCATCCCGGCGCGCCTGATCCGGTTCCCCTCATTACCGCAGGGCCGTATAAGTGATTCTTTGTGGCAAGCCAATTAAAAAGCTACCTCTTTCGGGGAACTGTTTTGCTTCACCGCCGCTCTGCGCAGGGCTGGAGCCGAGAGGTGGCGGCGGGCGGGCACAGGGGGGCATTGTGGGAGAGGGGGTCTGGGAGTACGAGAGAACCCACTGGACCTCGTCTCTCATGAATGGGGCTTTTCTCGAG
|
CGAGGAAGGGACGGAGAAAGAGATTTCTCCCTCTCTTACCTGAGGCCCAGGAGGTCCTTTGGGTCCTACAATCTGTGAGAGAGAGCCCCACAGGATGGTAAGTTAGAGGAGAGCACAAGGAAATGACCCATTTAGAGCAGCAGCTGCAATACCGGGTGAGAATAATTTGCACTTACATCCTTGATGTCTCCAGGTTCTCCTTTCTGTCCCTGAAACATGAAACATTCACAGGATTAAGCCGAGTAAGCCCACTAAGCCCCTAGTCTAAAACCCTGCCAGCAGCCCCTGTGTTGAGGTACCCTCTGAAACAGATATCTTCTGATGTCTAAAAAATCACAGACTGGATTAACATAGCATTGCTTTTGAAGCAGAAAATATAAAGCCAAAAAAATATGAAAAAAGAAAAAGAAGAAAGCCCTTACCTTTGGTCCTGGTTGCCCTGCAAGGGAAAAAATATAGAGAAGAAGAAGGTAAGAATCTTGAGATGGAAAAATACCTATTCTTGTCACTCAAACACTCATTAGATCAAACAAGTAAAAGGACACAATCAAGGAAGGCGGCAGCTTCCTGTGACTCCACTGAACCCCTCTGTTGGGGTGTTAGGGCCACTGTGGCCCTGGGGTTGCTGAGGTCCCATGAGGAATGGAGGTGACCCAGACTTTGTTATTCAAAAAGCAGGCAGCATGCAAAAGAAAGGAGCAAGGGCAGCACAAAAAGGCAATGAAGAGCTCAAGATCTAATCAGCCACAAGAAGGAAAGCACAGATTCAGTCTCTCTTCCCCCCACAGGGTAGGGAGCCGTTCCCGAACCCCAAGCCCTCCCAGAGGAAGAGTTAGGTACTTAGAAAGGTCTTACATTAGAGCTGGGTCTCCTTGAAGCAAGCACAAATAAAAACACAAAAACAGCAAGGCATATGAGTTATGAAGAGCATCGGAGCATCATAGCCTGTGCCATCCCCAGTCAATAACCTCTCCTTCACAGTAGCAGCAAAATAGTAAAGGCAATCAACACTTCACTCACACGGGCCCCTCAGAAAGGATCTGGGAATCTGCACATTAGGGAGCCAGTGTTGGTGAAGTGTTAAGGAAAGGCAGCTTCTCACTTCCCTTGCCACGGCCTTCTCTACTTCAGCAGGAAGCGGACAGCAAGAGCTACCCAAAAAACCTACACAAGCGTCCCCACTCACTCTGCAGGGAGATAGGACATCTGTATGAATGCTGGGAAGGGGTCACCTGCACATATATCATCCACCAGCACTGGATCTAACTGGGAGTTTATAACCACCCACTACAGTGCAGATACATGGGGCTCTGTCTCCACCCGTCCCCACGAGAACTCCCAAAGCCTAGCCCTTCCCTCTCCTATTATTTTGCTTCTGAATTAATGGTCAACTCCAAGAGAGGTAATAGCAGAGAGGAAACTACCACCAATGTTCCATAACTCAAAGAGGGAGCCTCTGCCCCTGCAGTCTCCCCACTAGCTGGCAGAGCTTTCTCCACACTGAAGACCACATACATAGAAGTCTTCTAAGGAGAAGACAAGGTGTCGGTGGCAGAGGAGGAATTAATTCGTGGATTGGCCAGACAGAGCATTTGATCTCCATAGTGGCTCTAGTAATTTGCAGAGATGATTTCAGAGAGGATTTTTTTTTTTTTTTTTTTGTAGAATCACATCTGTCCTTCATGTGTCTTGGAAGCAAATGTTTTTGGAGATGTTGGGCAAAGAAGGACCCCTCTAGTGTCTCAGGCTCGTTCACTCAGTTTCAACCTGCAAGTGAGAAGTGGCCTTTCCTTTCTACCCCAGCTACCAGGTCCCATGGATAACTAGCCCCTCTGCTTTGCAGAGACGACCAGCATCTATGGGAGCGTGTTTGCAGTGCTTGCAAGTAATTTATTTATGTTGAACAGGAAATAAATAAATTACAACCACTGGCAGTGGCGAGGTCAGTTGGGCAGATGGGGCAGCACTCTCCGAAGGGGATCTCAGGGCTGAGGCAGTCTTTCACGTCTTCACAGATTATGTCGTCGCAGAGGACAGTCCCAGTGTCATAGACACAGATCCGGCAGGGCTCCGGCTTCCACACATCCTTATCATTATACCTCTGCCCATCCTGCACACAGCTGCCAGCCTCCTCTGCACCAAGGGTGGGGAGGGAGAAGCAGAGAGCCAAGGGAAGGAGGGGGTGGGGAGCCAGAGAGAAAAAGAGAGAGGTTGCAGTCAACTTGACAGAATTCAAATGCTGAAGAATGTAGGCTGGGGCCACCTGGACATATAGAACTTAAAAATTATTTTCCTAAAACATCATTGATTTTTCCATGTATTCAACAAATATTTATTATGCACCTTGCACCATGTTGTCTATTCACCAGTGAAAATCTTGACCCAGCAATGAAGGTGGGGGGTTACTATACTATATTCTCTTTACCCACCTAATACGGGGGAGACCAGGTGATGGAGTGGGTGGAGGGAGTTGGAGGGTGAGCGGAAGGGAGGAGACAAGATATTCTGAATAGGAATTCTGGGACTATAAAAAGAAAGGAGACAGAAAAATGGCGAGACCTCCCTTCCACCAGCCCAGGAGCAGAGAAGTCTTCTTTCTTCTGCCTTCCTCTGGGAATTATGGGATTAGCTAAATACAACTGACAACTAACATTCAGAGGGAATGTAGAAAATTCTACCTACAAAAATTGGAATCTATAAGCAGTGAGGCTCCAAAAATAGGTATATAAGAAAGGGGGGTGAAAAGACGAGCTATTAGAATTAGGATCTTGTCTCATTCTTTGAACCATATTAGAATTAGGACCAATTTGGGGAGGGGGATAGACCCATTCAAACAATACACTTGGGGCTTGGGCAGGCTAATAAACTGCTTAGGAGGCCAGTGGAGCCAAAGCGCCCCCAGTGCTGACCTCCACCTGTAGCCCTGCCTGGAGAGGCCCTGCCTCCATCTGAAAACAGCACCCCAGTTTGGGGAGCAGGGGTCGTTGAATACCTGGCTAGGGCTAAGATTGGCCAGTCCAGGCCTGGCCTCCTCCAAGACTGCAGAGGAAGAATAGCAGGGACTAGTCTCCTCCACCAGCGCCCTGCCGTCTGGAATTCATGCTGCAAATGAAACCTGTGCTGACAAGAGCGCTCCTTAGCAGCCAAGGGCTGTAGAGCCCGCACCACGTGCTAGGGAGCGCCCAGCGCTGTTTTTCTCATCAAAATCCCCAAGGCAATAGCAGCAGCAGGGGATGAATAATAGGAAAGAGCCACAAACCCAGAGGGCGAGAAAGAAACGAGCCTGCCCACTGCTCTTTAAAGAGAGTGAAAATCCAAAGATAAACTTTCCTTTTTACTTTCCCACTAGAAGAAATCCGCCTAGCCTTTGGGCAAGATAATCACAGGAGGGTGAGGGATTCCAGGGAAAATACAGAAGTTGCGGGGACACACCCGCCGTTAAAATAGCTGGAGCAGTGGAATGCAGGCGGTGAGGAAGGTGTGGGAGAGGGGGCATCGGTTAATGCGCTCCAGCCCAGACTACAGGAGAGCCCACCCTCGCCCATGAGGACCCAGGGAGGAGAGGGGGAAATGCTAGGAGAGGGGCCACTCCCCGTGCGGATCAGATTTCCCGGGGAAGGGCGGCCCGGGAAGCGCCGGCGCAGGGGCGGGGCCAGGCTGCGCTGGGTGTAAGAGCCGCTGAGTGACTCTGTGGCTGCGGCTCTGGACACGGCTCGCTCACAGACACCGGGAGAGTGAAAAGTGGGATTAAATGACTGCCCCAGAAAGGAGCCAGCGCCGTAACCGGATCCCCTAGGTGTGGACGGAGGAGCCCAGCACCACCATAATTGCTGCTCCAAAACGGCTGCCGATAGCATCCCGGCGCGCCTGATCCGGTTCCCCTCATTACCGCAGGGCCGTATAAGTGATTCTTTGTGGCAAGCCAATTAAAAAGCTACCTCTTTCGGGGAACTGTTTTGCTTCACCGCCGCTCTGCGCAGGGCTGGAGCCGAGAGGTGGCGGCGGGCGGGCACAGGGGGGCATTGTGGGAGAGGGGGTCTGGGAGTACGAGAGAACCCACTGGACCTCGTCTCTCATGAATGGGGCTTTTCTCGAG
|
Task1_train_17511
|
Given this variant in gene COL2A1 (collagen type II alpha 1 chain) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
|
Pathogenic; not provided
|
AATGCAAACAAGCCTCACAAAGGAGGATTGAGATCTCTCCCCTGAGCCAGGGGCACTTTCGGAGGCGAGGGCTCTGAAATGCAGATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCTAATTAAGCAAGCGACCCTAATACCGGATGGAGAATTTGAGAATTATTTTAAAGCCACCCAGCTAATTCCATTGCGCACTAAGGCAGGGGTCAGTCAAGAAGACAGCTTTGTGGGCGTGTGCTTGTAAATGTAGTACAAAAATATAGTCAGTCTGAGTCCAGGCCACGTATAGTCACGCTGTATTCCTCAAATGCCCAGGAGCGCGCCTCCAGCTTAGCGCACTACCGGGTGACCCGGCCAGAGTCTCCTGCTCCCGGCTCCTCGCAGCTGCGCCGCAGGCTCCAGCCCTGCCCCCGCTGCGCTAATGACCGGAAAGCCCGCCTGAGCCCGCCGCCTTCCACGCTATCCCTGGAAACAGCCTGGTGGCAGGAGAGGGCCCACAGAGCCTCGAAGGCAGAGAACTTTTATTCCCCCCGCCGAAGAGTTTCCCTCTGCGATTGATTTACAATCTGTAACATACAAAGACAGGGCTGGAATCCCAGCCGTCGGAAACGTGCCCAAACACGTGGAAAAAAAAATCCTCTCTACCTAATACACTTTCCAGGCTTCGTTTGTCCTGAATATAATCCCAGACAGTGGACCTTACCAAAGGAGGGGTAGAAAGGTGCAGTCCGAACAGCATTTGGACCCGACTACAAGAGCCATCTCTAACTATACCGGTTGAAATAGTTGTAGCAACCGTAGCAATCGACCAGCCTGCTCCCCTTCCCTGACACACACATACACACACACACACGCACACACACACACACCACGCAGCCTGGCTCGGTGAGTTCCAGAATTTAGAAAAGTAACTCATTGTAGTACCTCGGGGCGGCGGGGAATGGGGTAAGACCGCGGGGAAGGGGGCGCTATTTTCGGGGGCATTTGAAAAGCACGGTCTGGTTGGAATGTTATCGTCTTTCAGATGGCCTCTCCTACTGGAAGTTTCTGTACCCTTTATCAGAAGAGAGGCGCAGGCGGACGGAGGGAAGTCGAGATGAGCGCTAGGGCTGCACCTTGCTCCAGGGCCAGCTGGGAGGGGGAGGGTACCCTAAAGAGGCGCTGAGGTCTCAGAGGGCCTATCGGAAGCCGTTCTTTGTGGCCTGGGATTTCAGCCCACCAGTGTCAGAGTGTTAGTCCCCTTTGTCTAACTCTGCTTTGAGCCCACCAGCCACCAAGCCTTGGACAGGCTGTGAAGTCAACCCTTTGGCGTTTGCTTGCTCCCTCGCTCGCGCTCTCTCTTTCCTACTTCACCTAAGTTCGATGAGTTGAGATCTGTTTTTGCTGAACTCGAAGTGCTTCGAAGAGGCGAGCTGTGTGCATGTGCGCCTAATTATCAAAGCTGGTGGAAAAGAGCCCATTTATATCTGTGCGCAAACTTCTCCGAGCCAACACTTTGCAAGTTCAGTATTCTAGCGCAACGTAGGGACCTGCAAATACTTGCAACTGCGATGGGCACCGAGGACCCTGGGACAGAGTCCTTGATTGGCAGAACTCTTCTTGGTGAACTTCTGCGTGTCCTGTGCCTAAGTCGGCGCGCTACGACCCCGGGAGCCGTTTTAGCCCGGAGCCGCGGGCTCCAGAGCTGGAGCGGGCCGGGGAGAAGGATGCTGAGGGACGCATGGAAAGCAGGCAGGCAGGCAGGGGCGGGGGAAGACTTACGGACATCCTGGCCCTGACACCGAAGGACAGCGGCGACGAGCAGCGTCAGCAGCACCAGCGTCTGGGGAGCCCCGAGGCGAATCATGGCTCACCGCGGGGCCTGGCTGAGCCGGGCCCGGGCGGAGCGCAGCGAAACGGCAGGAGCACGGCGCGGGTCCGGGTCTCTACCGCGCCCTCATGCAGGAGGCCCTTGGAGCAGGAGGGGGAAGCGGGAGACCCGGCAGCCCAGCAGCGCTCTGCGTCTTCTCCCCGCCGCGGCGCCCGTTATATGCGCCCGGCCCCTTTCGAGGCTGGCGAACTCGCCCAAACCGCGGGCCGCCCCCTGCCCCCCGCTGGGCTGTAACCTGAACCGCCCGCCCCCGGAGCCCGCCTGGGCCCTGCCAGTGCCCGCACCTGCCCAAGCCGGACCCCCCTCTCTGGGAGTCACGCTTCCCGCCCTCCACCCCTAGTGCGCCGAGTGGCCTGATCGGGCGGGGCGCAGAGATGGCCCCTGCCCCCCAAACCCGGGGCTGCGGCGCTGCCCCCCTCTGACCACAGGCGGGAAGGGTGGCCTCCGGCCCCTCCCCTCGGAGTTCTGCCGGAGTTGGAGGGGAGGGGGTGTTTGCAGAGGCGCAGGCCGAGAGCCCTAGACCAAGGACGGAAAAGACATGGGAGGGAGGAGGGAAAGCGGTAGAAAGGAGCAGCGGAGGGCGAGGGGGCACCGCGTCAGGCGTTTGGGAGTGGGGACAGGGAGGAGCCCACAGAGATTCAGAGTCCTAAATCTTGGAGACAGGCTAGCTGAGCCAGATCTGAAGGGTTACCCCGACCTATCTTTTAGCCCTTCCCTGCAGTACCTGGTCCCCAGACTCCCACCTGGACGTTCACAGCGACTGCCCTCCACCCCTCCCCCATCCAGCTCTGCGTTGAAGGCTTCCTCTGGAGCACAGGCCGAAGTTGGCCTGAGCCGACAGCCAGGAAAAGAGCTGGTGTGTTACTGCACAGAAGGAGACCTGTGTGAAGGTGTGGGGGGCAGGGGCAGGCCCTGGGAAGGGGACTGAAAGAGCCACAGAGGACGGAGGGAGCCGAGACTAAACGGTGCAAGCTGCCTGCTGTGGGGGGACTGTCTAGCTCCAGGCTCAGACGTGGTGTCTGCTCTTCCTGGCTGGGGTCCGGGAGTCCCCCGGGGAGTGGGCACTGCCGGCCGTCGTAGAGCAGCTTTGGCCAGGGACGGTTGGTCACTGCTGCGGCCCTGGCCAGGGATCGGGGAGGCCGATCCAGCTGGCGAGTTCTGTGAGCCGGGGAGAAGCGCCAGAATTTCCCAGTCGGCCCCCTAGCCCTCCGCTTGCCGCCTCACCTCACCTTCCCCGGTGAGCGCCCTCTCTCACCTTAGCCAAACTGCCTTCTTCCCAGGGCTTAGCTGGTCTCTTCTCTTGGTCTCCGGTGCCTCCTTTCATACCAGGGAGGAAACGTCCCCAAACAGACCTTCCTTTTGAGCGATATGGTCCCCCAAAGAACTATAGGCAAAATGAAACTCAGAATTTGGGGTCTGACTTAACCAGAACTTCTGCCCTCCTGGGCAGTTTTGTTTCTCTGGAGCTTTCCCCCTAGAAGCTGAGAGCACTTGAAAGAAGCTACTTCTGGGCCTTAGGCTTCCACCAGGGGTCCTGGGACCCCATCCCTAGCCTATCATGCTTTGACACTTGTCCTGGTAGAGGCTGGAGTTCCAAGTGCTCTGGTTGGAAAGGGAAAGAACTCATTGTTGAAGGAAATGCTTCTAGGCTTTGTCCAGTCTGGATGGAGATGGGGAAGAATTCAACCAGTTTCCAGCATCTCCCCTACCTTCCACGGGCCTTGTCTGAGTCTCCATGCTCCCATTCAGGGGCTTGCATTAAGCTCTGGGCTCTTCCTCAGGCCCAATCTCTGCTAGAAGAAAGCTGGTCTCTTGCCATCAGTGCCCCATGTCCTCTTTGGGGCTCAGAAGGTCCTATATTCTCTACCTGGAAGATAGAATGACCAAATTCCACACATTTATCAAGACCTCCTAGGTTAAAGCCCCTCTGAGAAGCCTT
|
AATGCAAACAAGCCTCACAAAGGAGGATTGAGATCTCTCCCCTGAGCCAGGGGCACTTTCGGAGGCGAGGGCTCTGAAATGCAGATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCTAATTAAGCAAGCGACCCTAATACCGGATGGAGAATTTGAGAATTATTTTAAAGCCACCCAGCTAATTCCATTGCGCACTAAGGCAGGGGTCAGTCAAGAAGACAGCTTTGTGGGCGTGTGCTTGTAAATGTAGTACAAAAATATAGTCAGTCTGAGTCCAGGCCACGTATAGTCACGCTGTATTCCTCAAATGCCCAGGAGCGCGCCTCCAGCTTAGCGCACTACCGGGTGACCCGGCCAGAGTCTCCTGCTCCCGGCTCCTCGCAGCTGCGCCGCAGGCTCCAGCCCTGCCCCCGCTGCGCTAATGACCGGAAAGCCCGCCTGAGCCCGCCGCCTTCCACGCTATCCCTGGAAACAGCCTGGTGGCAGGAGAGGGCCCACAGAGCCTCGAAGGCAGAGAACTTTTATTCCCCCCGCCGAAGAGTTTCCCTCTGCGATTGATTTACAATCTGTAACATACAAAGACAGGGCTGGAATCCCAGCCGTCGGAAACGTGCCCAAACACGTGGAAAAAAAAATCCTCTCTACCTAATACACTTTCCAGGCTTCGTTTGTCCTGAATATAATCCCAGACAGTGGACCTTACCAAAGGAGGGGTAGAAAGGTGCAGTCCGAACAGCATTTGGACCCGACTACAAGAGCCATCTCTAACTATACCGGTTGAAATAGTTGTAGCAACCGTAGCAATCGACCAGCCTGCTCCCCTTCCCTGACACACACATACACACACACACACGCACACACACACACACCACGCAGCCTGGCTCGGTGAGTTCCAGAATTTAGAAAAGTAACTCATTGTAGTACCTCGGGGCGGCGGGGAATGGGGTAAGACCGCGGGGAAGGGGGCGCTATTTTCGGGGGCATTTGAAAAGCACGGTCTGGTTGGAATGTTATCGTCTTTCAGATGGCCTCTCCTACTGGAAGTTTCTGTACCCTTTATCAGAAGAGAGGCGCAGGCGGACGGAGGGAAGTCGAGATGAGCGCTAGGGCTGCACCTTGCTCCAGGGCCAGCTGGGAGGGGGAGGGTACCCTAAAGAGGCGCTGAGGTCTCAGAGGGCCTATCGGAAGCCGTTCTTTGTGGCCTGGGATTTCAGCCCACCAGTGTCAGAGTGTTAGTCCCCTTTGTCTAACTCTGCTTTGAGCCCACCAGCCACCAAGCCTTGGACAGGCTGTGAAGTCAACCCTTTGGCGTTTGCTTGCTCCCTCGCTCGCGCTCTCTCTTTCCTACTTCACCTAAGTTCGATGAGTTGAGATCTGTTTTTGCTGAACTCGAAGTGCTTCGAAGAGGCGAGCTGTGTGCATGTGCGCCTAATTATCAAAGCTGGTGGAAAAGAGCCCATTTATATCTGTGCGCAAACTTCTCCGAGCCAACACTTTGCAAGTTCAGTATTCTAGCGCAACGTAGGGACCTGCAAATACTTGCAACTGCGATGGGCACCGAGGACCCTGGGACAGAGTCCTTGATTGGCAGAACTCTTCTTGGTGAACTTCTGCGTGTCCTGTGCCTAAGTCGGCGCGCTACGACCCCGGGAGCCGTTTTAGCCCGGAGCCGCGGGCTCCAGAGCTGGAGCGGGCCGGGGAGAAGGATGCTGAGGGACGCATGGAAAGCAGGCAGGCAGGCAGGGGCGGGGGAAGACTTACAGACATCCTGGCCCTGACACCGAAGGACAGCGGCGACGAGCAGCGTCAGCAGCACCAGCGTCTGGGGAGCCCCGAGGCGAATCATGGCTCACCGCGGGGCCTGGCTGAGCCGGGCCCGGGCGGAGCGCAGCGAAACGGCAGGAGCACGGCGCGGGTCCGGGTCTCTACCGCGCCCTCATGCAGGAGGCCCTTGGAGCAGGAGGGGGAAGCGGGAGACCCGGCAGCCCAGCAGCGCTCTGCGTCTTCTCCCCGCCGCGGCGCCCGTTATATGCGCCCGGCCCCTTTCGAGGCTGGCGAACTCGCCCAAACCGCGGGCCGCCCCCTGCCCCCCGCTGGGCTGTAACCTGAACCGCCCGCCCCCGGAGCCCGCCTGGGCCCTGCCAGTGCCCGCACCTGCCCAAGCCGGACCCCCCTCTCTGGGAGTCACGCTTCCCGCCCTCCACCCCTAGTGCGCCGAGTGGCCTGATCGGGCGGGGCGCAGAGATGGCCCCTGCCCCCCAAACCCGGGGCTGCGGCGCTGCCCCCCTCTGACCACAGGCGGGAAGGGTGGCCTCCGGCCCCTCCCCTCGGAGTTCTGCCGGAGTTGGAGGGGAGGGGGTGTTTGCAGAGGCGCAGGCCGAGAGCCCTAGACCAAGGACGGAAAAGACATGGGAGGGAGGAGGGAAAGCGGTAGAAAGGAGCAGCGGAGGGCGAGGGGGCACCGCGTCAGGCGTTTGGGAGTGGGGACAGGGAGGAGCCCACAGAGATTCAGAGTCCTAAATCTTGGAGACAGGCTAGCTGAGCCAGATCTGAAGGGTTACCCCGACCTATCTTTTAGCCCTTCCCTGCAGTACCTGGTCCCCAGACTCCCACCTGGACGTTCACAGCGACTGCCCTCCACCCCTCCCCCATCCAGCTCTGCGTTGAAGGCTTCCTCTGGAGCACAGGCCGAAGTTGGCCTGAGCCGACAGCCAGGAAAAGAGCTGGTGTGTTACTGCACAGAAGGAGACCTGTGTGAAGGTGTGGGGGGCAGGGGCAGGCCCTGGGAAGGGGACTGAAAGAGCCACAGAGGACGGAGGGAGCCGAGACTAAACGGTGCAAGCTGCCTGCTGTGGGGGGACTGTCTAGCTCCAGGCTCAGACGTGGTGTCTGCTCTTCCTGGCTGGGGTCCGGGAGTCCCCCGGGGAGTGGGCACTGCCGGCCGTCGTAGAGCAGCTTTGGCCAGGGACGGTTGGTCACTGCTGCGGCCCTGGCCAGGGATCGGGGAGGCCGATCCAGCTGGCGAGTTCTGTGAGCCGGGGAGAAGCGCCAGAATTTCCCAGTCGGCCCCCTAGCCCTCCGCTTGCCGCCTCACCTCACCTTCCCCGGTGAGCGCCCTCTCTCACCTTAGCCAAACTGCCTTCTTCCCAGGGCTTAGCTGGTCTCTTCTCTTGGTCTCCGGTGCCTCCTTTCATACCAGGGAGGAAACGTCCCCAAACAGACCTTCCTTTTGAGCGATATGGTCCCCCAAAGAACTATAGGCAAAATGAAACTCAGAATTTGGGGTCTGACTTAACCAGAACTTCTGCCCTCCTGGGCAGTTTTGTTTCTCTGGAGCTTTCCCCCTAGAAGCTGAGAGCACTTGAAAGAAGCTACTTCTGGGCCTTAGGCTTCCACCAGGGGTCCTGGGACCCCATCCCTAGCCTATCATGCTTTGACACTTGTCCTGGTAGAGGCTGGAGTTCCAAGTGCTCTGGTTGGAAAGGGAAAGAACTCATTGTTGAAGGAAATGCTTCTAGGCTTTGTCCAGTCTGGATGGAGATGGGGAAGAATTCAACCAGTTTCCAGCATCTCCCCTACCTTCCACGGGCCTTGTCTGAGTCTCCATGCTCCCATTCAGGGGCTTGCATTAAGCTCTGGGCTCTTCCTCAGGCCCAATCTCTGCTAGAAGAAAGCTGGTCTCTTGCCATCAGTGCCCCATGTCCTCTTTGGGGCTCAGAAGGTCCTATATTCTCTACCTGGAAGATAGAATGACCAAATTCCACACATTTATCAAGACCTCCTAGGTTAAAGCCCCTCTGAGAAGCCTT
|
Task1_train_17512
|
Mutation context: Chromosome 12, Gene COL2A1 (collagen type II alpha 1 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
|
Pathogenic; not provided
|
ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCTAATTAAGCAAGCGACCCTAATACCGGATGGAGAATTTGAGAATTATTTTAAAGCCACCCAGCTAATTCCATTGCGCACTAAGGCAGGGGTCAGTCAAGAAGACAGCTTTGTGGGCGTGTGCTTGTAAATGTAGTACAAAAATATAGTCAGTCTGAGTCCAGGCCACGTATAGTCACGCTGTATTCCTCAAATGCCCAGGAGCGCGCCTCCAGCTTAGCGCACTACCGGGTGACCCGGCCAGAGTCTCCTGCTCCCGGCTCCTCGCAGCTGCGCCGCAGGCTCCAGCCCTGCCCCCGCTGCGCTAATGACCGGAAAGCCCGCCTGAGCCCGCCGCCTTCCACGCTATCCCTGGAAACAGCCTGGTGGCAGGAGAGGGCCCACAGAGCCTCGAAGGCAGAGAACTTTTATTCCCCCCGCCGAAGAGTTTCCCTCTGCGATTGATTTACAATCTGTAACATACAAAGACAGGGCTGGAATCCCAGCCGTCGGAAACGTGCCCAAACACGTGGAAAAAAAAATCCTCTCTACCTAATACACTTTCCAGGCTTCGTTTGTCCTGAATATAATCCCAGACAGTGGACCTTACCAAAGGAGGGGTAGAAAGGTGCAGTCCGAACAGCATTTGGACCCGACTACAAGAGCCATCTCTAACTATACCGGTTGAAATAGTTGTAGCAACCGTAGCAATCGACCAGCCTGCTCCCCTTCCCTGACACACACATACACACACACACACGCACACACACACACACCACGCAGCCTGGCTCGGTGAGTTCCAGAATTTAGAAAAGTAACTCATTGTAGTACCTCGGGGCGGCGGGGAATGGGGTAAGACCGCGGGGAAGGGGGCGCTATTTTCGGGGGCATTTGAAAAGCACGGTCTGGTTGGAATGTTATCGTCTTTCAGATGGCCTCTCCTACTGGAAGTTTCTGTACCCTTTATCAGAAGAGAGGCGCAGGCGGACGGAGGGAAGTCGAGATGAGCGCTAGGGCTGCACCTTGCTCCAGGGCCAGCTGGGAGGGGGAGGGTACCCTAAAGAGGCGCTGAGGTCTCAGAGGGCCTATCGGAAGCCGTTCTTTGTGGCCTGGGATTTCAGCCCACCAGTGTCAGAGTGTTAGTCCCCTTTGTCTAACTCTGCTTTGAGCCCACCAGCCACCAAGCCTTGGACAGGCTGTGAAGTCAACCCTTTGGCGTTTGCTTGCTCCCTCGCTCGCGCTCTCTCTTTCCTACTTCACCTAAGTTCGATGAGTTGAGATCTGTTTTTGCTGAACTCGAAGTGCTTCGAAGAGGCGAGCTGTGTGCATGTGCGCCTAATTATCAAAGCTGGTGGAAAAGAGCCCATTTATATCTGTGCGCAAACTTCTCCGAGCCAACACTTTGCAAGTTCAGTATTCTAGCGCAACGTAGGGACCTGCAAATACTTGCAACTGCGATGGGCACCGAGGACCCTGGGACAGAGTCCTTGATTGGCAGAACTCTTCTTGGTGAACTTCTGCGTGTCCTGTGCCTAAGTCGGCGCGCTACGACCCCGGGAGCCGTTTTAGCCCGGAGCCGCGGGCTCCAGAGCTGGAGCGGGCCGGGGAGAAGGATGCTGAGGGACGCATGGAAAGCAGGCAGGCAGGCAGGGGCGGGGGAAGACTTACGGACATCCTGGCCCTGACACCGAAGGACAGCGGCGACGAGCAGCGTCAGCAGCACCAGCGTCTGGGGAGCCCCGAGGCGAATCATGGCTCACCGCGGGGCCTGGCTGAGCCGGGCCCGGGCGGAGCGCAGCGAAACGGCAGGAGCACGGCGCGGGTCCGGGTCTCTACCGCGCCCTCATGCAGGAGGCCCTTGGAGCAGGAGGGGGAAGCGGGAGACCCGGCAGCCCAGCAGCGCTCTGCGTCTTCTCCCCGCCGCGGCGCCCGTTATATGCGCCCGGCCCCTTTCGAGGCTGGCGAACTCGCCCAAACCGCGGGCCGCCCCCTGCCCCCCGCTGGGCTGTAACCTGAACCGCCCGCCCCCGGAGCCCGCCTGGGCCCTGCCAGTGCCCGCACCTGCCCAAGCCGGACCCCCCTCTCTGGGAGTCACGCTTCCCGCCCTCCACCCCTAGTGCGCCGAGTGGCCTGATCGGGCGGGGCGCAGAGATGGCCCCTGCCCCCCAAACCCGGGGCTGCGGCGCTGCCCCCCTCTGACCACAGGCGGGAAGGGTGGCCTCCGGCCCCTCCCCTCGGAGTTCTGCCGGAGTTGGAGGGGAGGGGGTGTTTGCAGAGGCGCAGGCCGAGAGCCCTAGACCAAGGACGGAAAAGACATGGGAGGGAGGAGGGAAAGCGGTAGAAAGGAGCAGCGGAGGGCGAGGGGGCACCGCGTCAGGCGTTTGGGAGTGGGGACAGGGAGGAGCCCACAGAGATTCAGAGTCCTAAATCTTGGAGACAGGCTAGCTGAGCCAGATCTGAAGGGTTACCCCGACCTATCTTTTAGCCCTTCCCTGCAGTACCTGGTCCCCAGACTCCCACCTGGACGTTCACAGCGACTGCCCTCCACCCCTCCCCCATCCAGCTCTGCGTTGAAGGCTTCCTCTGGAGCACAGGCCGAAGTTGGCCTGAGCCGACAGCCAGGAAAAGAGCTGGTGTGTTACTGCACAGAAGGAGACCTGTGTGAAGGTGTGGGGGGCAGGGGCAGGCCCTGGGAAGGGGACTGAAAGAGCCACAGAGGACGGAGGGAGCCGAGACTAAACGGTGCAAGCTGCCTGCTGTGGGGGGACTGTCTAGCTCCAGGCTCAGACGTGGTGTCTGCTCTTCCTGGCTGGGGTCCGGGAGTCCCCCGGGGAGTGGGCACTGCCGGCCGTCGTAGAGCAGCTTTGGCCAGGGACGGTTGGTCACTGCTGCGGCCCTGGCCAGGGATCGGGGAGGCCGATCCAGCTGGCGAGTTCTGTGAGCCGGGGAGAAGCGCCAGAATTTCCCAGTCGGCCCCCTAGCCCTCCGCTTGCCGCCTCACCTCACCTTCCCCGGTGAGCGCCCTCTCTCACCTTAGCCAAACTGCCTTCTTCCCAGGGCTTAGCTGGTCTCTTCTCTTGGTCTCCGGTGCCTCCTTTCATACCAGGGAGGAAACGTCCCCAAACAGACCTTCCTTTTGAGCGATATGGTCCCCCAAAGAACTATAGGCAAAATGAAACTCAGAATTTGGGGTCTGACTTAACCAGAACTTCTGCCCTCCTGGGCAGTTTTGTTTCTCTGGAGCTTTCCCCCTAGAAGCTGAGAGCACTTGAAAGAAGCTACTTCTGGGCCTTAGGCTTCCACCAGGGGTCCTGGGACCCCATCCCTAGCCTATCATGCTTTGACACTTGTCCTGGTAGAGGCTGGAGTTCCAAGTGCTCTGGTTGGAAAGGGAAAGAACTCATTGTTGAAGGAAATGCTTCTAGGCTTTGTCCAGTCTGGATGGAGATGGGGAAGAATTCAACCAGTTTCCAGCATCTCCCCTACCTTCCACGGGCCTTGTCTGAGTCTCCATGCTCCCATTCAGGGGCTTGCATTAAGCTCTGGGCTCTTCCTCAGGCCCAATCTCTGCTAGAAGAAAGCTGGTCTCTTGCCATCAGTGCCCCATGTCCTCTTTGGGGCTCAGAAGGTCCTATATTCTCTACCTGGAAGATAGAATGACCAAATTCCACACATTTATCAAGACCTCCTAGGTTAAAGCCCCTCTGAGAAGCCTTCTCTGATATCTCTAGAACACAACGTCTCCCTGGCTTTCTGAATCCCCCTGGCATTTATAGCCTAAGCTACATATGTTTTTGTGT
|
ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCTAATTAAGCAAGCGACCCTAATACCGGATGGAGAATTTGAGAATTATTTTAAAGCCACCCAGCTAATTCCATTGCGCACTAAGGCAGGGGTCAGTCAAGAAGACAGCTTTGTGGGCGTGTGCTTGTAAATGTAGTACAAAAATATAGTCAGTCTGAGTCCAGGCCACGTATAGTCACGCTGTATTCCTCAAATGCCCAGGAGCGCGCCTCCAGCTTAGCGCACTACCGGGTGACCCGGCCAGAGTCTCCTGCTCCCGGCTCCTCGCAGCTGCGCCGCAGGCTCCAGCCCTGCCCCCGCTGCGCTAATGACCGGAAAGCCCGCCTGAGCCCGCCGCCTTCCACGCTATCCCTGGAAACAGCCTGGTGGCAGGAGAGGGCCCACAGAGCCTCGAAGGCAGAGAACTTTTATTCCCCCCGCCGAAGAGTTTCCCTCTGCGATTGATTTACAATCTGTAACATACAAAGACAGGGCTGGAATCCCAGCCGTCGGAAACGTGCCCAAACACGTGGAAAAAAAAATCCTCTCTACCTAATACACTTTCCAGGCTTCGTTTGTCCTGAATATAATCCCAGACAGTGGACCTTACCAAAGGAGGGGTAGAAAGGTGCAGTCCGAACAGCATTTGGACCCGACTACAAGAGCCATCTCTAACTATACCGGTTGAAATAGTTGTAGCAACCGTAGCAATCGACCAGCCTGCTCCCCTTCCCTGACACACACATACACACACACACACGCACACACACACACACCACGCAGCCTGGCTCGGTGAGTTCCAGAATTTAGAAAAGTAACTCATTGTAGTACCTCGGGGCGGCGGGGAATGGGGTAAGACCGCGGGGAAGGGGGCGCTATTTTCGGGGGCATTTGAAAAGCACGGTCTGGTTGGAATGTTATCGTCTTTCAGATGGCCTCTCCTACTGGAAGTTTCTGTACCCTTTATCAGAAGAGAGGCGCAGGCGGACGGAGGGAAGTCGAGATGAGCGCTAGGGCTGCACCTTGCTCCAGGGCCAGCTGGGAGGGGGAGGGTACCCTAAAGAGGCGCTGAGGTCTCAGAGGGCCTATCGGAAGCCGTTCTTTGTGGCCTGGGATTTCAGCCCACCAGTGTCAGAGTGTTAGTCCCCTTTGTCTAACTCTGCTTTGAGCCCACCAGCCACCAAGCCTTGGACAGGCTGTGAAGTCAACCCTTTGGCGTTTGCTTGCTCCCTCGCTCGCGCTCTCTCTTTCCTACTTCACCTAAGTTCGATGAGTTGAGATCTGTTTTTGCTGAACTCGAAGTGCTTCGAAGAGGCGAGCTGTGTGCATGTGCGCCTAATTATCAAAGCTGGTGGAAAAGAGCCCATTTATATCTGTGCGCAAACTTCTCCGAGCCAACACTTTGCAAGTTCAGTATTCTAGCGCAACGTAGGGACCTGCAAATACTTGCAACTGCGATGGGCACCGAGGACCCTGGGACAGAGTCCTTGATTGGCAGAACTCTTCTTGGTGAACTTCTGCGTGTCCTGTGCCTAAGTCGGCGCGCTACGACCCCGGGAGCCGTTTTAGCCCGGAGCCGCGGGCTCCAGAGCTGGAGCGGGCCGGGGAGAAGGATGCTGAGGGACGCATGGAAAGCAGGCAGGCAGGCAGGGGCGGGGGAAGACTTACGGACATCCTGGCCCTGACACCGAAGGACAGCGGCGACGAGCAGCGTCAGCAGCACCAGCGTCTGGGGAGCCCCGAGGCGAATCAAGGCTCACCGCGGGGCCTGGCTGAGCCGGGCCCGGGCGGAGCGCAGCGAAACGGCAGGAGCACGGCGCGGGTCCGGGTCTCTACCGCGCCCTCATGCAGGAGGCCCTTGGAGCAGGAGGGGGAAGCGGGAGACCCGGCAGCCCAGCAGCGCTCTGCGTCTTCTCCCCGCCGCGGCGCCCGTTATATGCGCCCGGCCCCTTTCGAGGCTGGCGAACTCGCCCAAACCGCGGGCCGCCCCCTGCCCCCCGCTGGGCTGTAACCTGAACCGCCCGCCCCCGGAGCCCGCCTGGGCCCTGCCAGTGCCCGCACCTGCCCAAGCCGGACCCCCCTCTCTGGGAGTCACGCTTCCCGCCCTCCACCCCTAGTGCGCCGAGTGGCCTGATCGGGCGGGGCGCAGAGATGGCCCCTGCCCCCCAAACCCGGGGCTGCGGCGCTGCCCCCCTCTGACCACAGGCGGGAAGGGTGGCCTCCGGCCCCTCCCCTCGGAGTTCTGCCGGAGTTGGAGGGGAGGGGGTGTTTGCAGAGGCGCAGGCCGAGAGCCCTAGACCAAGGACGGAAAAGACATGGGAGGGAGGAGGGAAAGCGGTAGAAAGGAGCAGCGGAGGGCGAGGGGGCACCGCGTCAGGCGTTTGGGAGTGGGGACAGGGAGGAGCCCACAGAGATTCAGAGTCCTAAATCTTGGAGACAGGCTAGCTGAGCCAGATCTGAAGGGTTACCCCGACCTATCTTTTAGCCCTTCCCTGCAGTACCTGGTCCCCAGACTCCCACCTGGACGTTCACAGCGACTGCCCTCCACCCCTCCCCCATCCAGCTCTGCGTTGAAGGCTTCCTCTGGAGCACAGGCCGAAGTTGGCCTGAGCCGACAGCCAGGAAAAGAGCTGGTGTGTTACTGCACAGAAGGAGACCTGTGTGAAGGTGTGGGGGGCAGGGGCAGGCCCTGGGAAGGGGACTGAAAGAGCCACAGAGGACGGAGGGAGCCGAGACTAAACGGTGCAAGCTGCCTGCTGTGGGGGGACTGTCTAGCTCCAGGCTCAGACGTGGTGTCTGCTCTTCCTGGCTGGGGTCCGGGAGTCCCCCGGGGAGTGGGCACTGCCGGCCGTCGTAGAGCAGCTTTGGCCAGGGACGGTTGGTCACTGCTGCGGCCCTGGCCAGGGATCGGGGAGGCCGATCCAGCTGGCGAGTTCTGTGAGCCGGGGAGAAGCGCCAGAATTTCCCAGTCGGCCCCCTAGCCCTCCGCTTGCCGCCTCACCTCACCTTCCCCGGTGAGCGCCCTCTCTCACCTTAGCCAAACTGCCTTCTTCCCAGGGCTTAGCTGGTCTCTTCTCTTGGTCTCCGGTGCCTCCTTTCATACCAGGGAGGAAACGTCCCCAAACAGACCTTCCTTTTGAGCGATATGGTCCCCCAAAGAACTATAGGCAAAATGAAACTCAGAATTTGGGGTCTGACTTAACCAGAACTTCTGCCCTCCTGGGCAGTTTTGTTTCTCTGGAGCTTTCCCCCTAGAAGCTGAGAGCACTTGAAAGAAGCTACTTCTGGGCCTTAGGCTTCCACCAGGGGTCCTGGGACCCCATCCCTAGCCTATCATGCTTTGACACTTGTCCTGGTAGAGGCTGGAGTTCCAAGTGCTCTGGTTGGAAAGGGAAAGAACTCATTGTTGAAGGAAATGCTTCTAGGCTTTGTCCAGTCTGGATGGAGATGGGGAAGAATTCAACCAGTTTCCAGCATCTCCCCTACCTTCCACGGGCCTTGTCTGAGTCTCCATGCTCCCATTCAGGGGCTTGCATTAAGCTCTGGGCTCTTCCTCAGGCCCAATCTCTGCTAGAAGAAAGCTGGTCTCTTGCCATCAGTGCCCCATGTCCTCTTTGGGGCTCAGAAGGTCCTATATTCTCTACCTGGAAGATAGAATGACCAAATTCCACACATTTATCAAGACCTCCTAGGTTAAAGCCCCTCTGAGAAGCCTTCTCTGATATCTCTAGAACACAACGTCTCCCTGGCTTTCTGAATCCCCCTGGCATTTATAGCCTAAGCTACATATGTTTTTGTGT
|
Task1_train_17513
|
Gene COL2A1 (collagen type II alpha 1 chain), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; Kniest dysplasia
|
ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCTAATTAAGCAAGCGACCCTAATACCGGATGGAGAATTTGAGAATTATTTTAAAGCCACCCAGCTAATTCCATTGCGCACTAAGGCAGGGGTCAGTCAAGAAGACAGCTTTGTGGGCGTGTGCTTGTAAATGTAGTACAAAAATATAGTCAGTCTGAGTCCAGGCCACGTATAGTCACGCTGTATTCCTCAAATGCCCAGGAGCGCGCCTCCAGCTTAGCGCACTACCGGGTGACCCGGCCAGAGTCTCCTGCTCCCGGCTCCTCGCAGCTGCGCCGCAGGCTCCAGCCCTGCCCCCGCTGCGCTAATGACCGGAAAGCCCGCCTGAGCCCGCCGCCTTCCACGCTATCCCTGGAAACAGCCTGGTGGCAGGAGAGGGCCCACAGAGCCTCGAAGGCAGAGAACTTTTATTCCCCCCGCCGAAGAGTTTCCCTCTGCGATTGATTTACAATCTGTAACATACAAAGACAGGGCTGGAATCCCAGCCGTCGGAAACGTGCCCAAACACGTGGAAAAAAAAATCCTCTCTACCTAATACACTTTCCAGGCTTCGTTTGTCCTGAATATAATCCCAGACAGTGGACCTTACCAAAGGAGGGGTAGAAAGGTGCAGTCCGAACAGCATTTGGACCCGACTACAAGAGCCATCTCTAACTATACCGGTTGAAATAGTTGTAGCAACCGTAGCAATCGACCAGCCTGCTCCCCTTCCCTGACACACACATACACACACACACACGCACACACACACACACCACGCAGCCTGGCTCGGTGAGTTCCAGAATTTAGAAAAGTAACTCATTGTAGTACCTCGGGGCGGCGGGGAATGGGGTAAGACCGCGGGGAAGGGGGCGCTATTTTCGGGGGCATTTGAAAAGCACGGTCTGGTTGGAATGTTATCGTCTTTCAGATGGCCTCTCCTACTGGAAGTTTCTGTACCCTTTATCAGAAGAGAGGCGCAGGCGGACGGAGGGAAGTCGAGATGAGCGCTAGGGCTGCACCTTGCTCCAGGGCCAGCTGGGAGGGGGAGGGTACCCTAAAGAGGCGCTGAGGTCTCAGAGGGCCTATCGGAAGCCGTTCTTTGTGGCCTGGGATTTCAGCCCACCAGTGTCAGAGTGTTAGTCCCCTTTGTCTAACTCTGCTTTGAGCCCACCAGCCACCAAGCCTTGGACAGGCTGTGAAGTCAACCCTTTGGCGTTTGCTTGCTCCCTCGCTCGCGCTCTCTCTTTCCTACTTCACCTAAGTTCGATGAGTTGAGATCTGTTTTTGCTGAACTCGAAGTGCTTCGAAGAGGCGAGCTGTGTGCATGTGCGCCTAATTATCAAAGCTGGTGGAAAAGAGCCCATTTATATCTGTGCGCAAACTTCTCCGAGCCAACACTTTGCAAGTTCAGTATTCTAGCGCAACGTAGGGACCTGCAAATACTTGCAACTGCGATGGGCACCGAGGACCCTGGGACAGAGTCCTTGATTGGCAGAACTCTTCTTGGTGAACTTCTGCGTGTCCTGTGCCTAAGTCGGCGCGCTACGACCCCGGGAGCCGTTTTAGCCCGGAGCCGCGGGCTCCAGAGCTGGAGCGGGCCGGGGAGAAGGATGCTGAGGGACGCATGGAAAGCAGGCAGGCAGGCAGGGGCGGGGGAAGACTTACGGACATCCTGGCCCTGACACCGAAGGACAGCGGCGACGAGCAGCGTCAGCAGCACCAGCGTCTGGGGAGCCCCGAGGCGAATCATGGCTCACCGCGGGGCCTGGCTGAGCCGGGCCCGGGCGGAGCGCAGCGAAACGGCAGGAGCACGGCGCGGGTCCGGGTCTCTACCGCGCCCTCATGCAGGAGGCCCTTGGAGCAGGAGGGGGAAGCGGGAGACCCGGCAGCCCAGCAGCGCTCTGCGTCTTCTCCCCGCCGCGGCGCCCGTTATATGCGCCCGGCCCCTTTCGAGGCTGGCGAACTCGCCCAAACCGCGGGCCGCCCCCTGCCCCCCGCTGGGCTGTAACCTGAACCGCCCGCCCCCGGAGCCCGCCTGGGCCCTGCCAGTGCCCGCACCTGCCCAAGCCGGACCCCCCTCTCTGGGAGTCACGCTTCCCGCCCTCCACCCCTAGTGCGCCGAGTGGCCTGATCGGGCGGGGCGCAGAGATGGCCCCTGCCCCCCAAACCCGGGGCTGCGGCGCTGCCCCCCTCTGACCACAGGCGGGAAGGGTGGCCTCCGGCCCCTCCCCTCGGAGTTCTGCCGGAGTTGGAGGGGAGGGGGTGTTTGCAGAGGCGCAGGCCGAGAGCCCTAGACCAAGGACGGAAAAGACATGGGAGGGAGGAGGGAAAGCGGTAGAAAGGAGCAGCGGAGGGCGAGGGGGCACCGCGTCAGGCGTTTGGGAGTGGGGACAGGGAGGAGCCCACAGAGATTCAGAGTCCTAAATCTTGGAGACAGGCTAGCTGAGCCAGATCTGAAGGGTTACCCCGACCTATCTTTTAGCCCTTCCCTGCAGTACCTGGTCCCCAGACTCCCACCTGGACGTTCACAGCGACTGCCCTCCACCCCTCCCCCATCCAGCTCTGCGTTGAAGGCTTCCTCTGGAGCACAGGCCGAAGTTGGCCTGAGCCGACAGCCAGGAAAAGAGCTGGTGTGTTACTGCACAGAAGGAGACCTGTGTGAAGGTGTGGGGGGCAGGGGCAGGCCCTGGGAAGGGGACTGAAAGAGCCACAGAGGACGGAGGGAGCCGAGACTAAACGGTGCAAGCTGCCTGCTGTGGGGGGACTGTCTAGCTCCAGGCTCAGACGTGGTGTCTGCTCTTCCTGGCTGGGGTCCGGGAGTCCCCCGGGGAGTGGGCACTGCCGGCCGTCGTAGAGCAGCTTTGGCCAGGGACGGTTGGTCACTGCTGCGGCCCTGGCCAGGGATCGGGGAGGCCGATCCAGCTGGCGAGTTCTGTGAGCCGGGGAGAAGCGCCAGAATTTCCCAGTCGGCCCCCTAGCCCTCCGCTTGCCGCCTCACCTCACCTTCCCCGGTGAGCGCCCTCTCTCACCTTAGCCAAACTGCCTTCTTCCCAGGGCTTAGCTGGTCTCTTCTCTTGGTCTCCGGTGCCTCCTTTCATACCAGGGAGGAAACGTCCCCAAACAGACCTTCCTTTTGAGCGATATGGTCCCCCAAAGAACTATAGGCAAAATGAAACTCAGAATTTGGGGTCTGACTTAACCAGAACTTCTGCCCTCCTGGGCAGTTTTGTTTCTCTGGAGCTTTCCCCCTAGAAGCTGAGAGCACTTGAAAGAAGCTACTTCTGGGCCTTAGGCTTCCACCAGGGGTCCTGGGACCCCATCCCTAGCCTATCATGCTTTGACACTTGTCCTGGTAGAGGCTGGAGTTCCAAGTGCTCTGGTTGGAAAGGGAAAGAACTCATTGTTGAAGGAAATGCTTCTAGGCTTTGTCCAGTCTGGATGGAGATGGGGAAGAATTCAACCAGTTTCCAGCATCTCCCCTACCTTCCACGGGCCTTGTCTGAGTCTCCATGCTCCCATTCAGGGGCTTGCATTAAGCTCTGGGCTCTTCCTCAGGCCCAATCTCTGCTAGAAGAAAGCTGGTCTCTTGCCATCAGTGCCCCATGTCCTCTTTGGGGCTCAGAAGGTCCTATATTCTCTACCTGGAAGATAGAATGACCAAATTCCACACATTTATCAAGACCTCCTAGGTTAAAGCCCCTCTGAGAAGCCTTCTCTGATATCTCTAGAACACAACGTCTCCCTGGCTTTCTGAATCCCCCTGGCATTTATAGCCTAAGCTACATATGTTTTTGTGT
|
ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCTAATTAAGCAAGCGACCCTAATACCGGATGGAGAATTTGAGAATTATTTTAAAGCCACCCAGCTAATTCCATTGCGCACTAAGGCAGGGGTCAGTCAAGAAGACAGCTTTGTGGGCGTGTGCTTGTAAATGTAGTACAAAAATATAGTCAGTCTGAGTCCAGGCCACGTATAGTCACGCTGTATTCCTCAAATGCCCAGGAGCGCGCCTCCAGCTTAGCGCACTACCGGGTGACCCGGCCAGAGTCTCCTGCTCCCGGCTCCTCGCAGCTGCGCCGCAGGCTCCAGCCCTGCCCCCGCTGCGCTAATGACCGGAAAGCCCGCCTGAGCCCGCCGCCTTCCACGCTATCCCTGGAAACAGCCTGGTGGCAGGAGAGGGCCCACAGAGCCTCGAAGGCAGAGAACTTTTATTCCCCCCGCCGAAGAGTTTCCCTCTGCGATTGATTTACAATCTGTAACATACAAAGACAGGGCTGGAATCCCAGCCGTCGGAAACGTGCCCAAACACGTGGAAAAAAAAATCCTCTCTACCTAATACACTTTCCAGGCTTCGTTTGTCCTGAATATAATCCCAGACAGTGGACCTTACCAAAGGAGGGGTAGAAAGGTGCAGTCCGAACAGCATTTGGACCCGACTACAAGAGCCATCTCTAACTATACCGGTTGAAATAGTTGTAGCAACCGTAGCAATCGACCAGCCTGCTCCCCTTCCCTGACACACACATACACACACACACACGCACACACACACACACCACGCAGCCTGGCTCGGTGAGTTCCAGAATTTAGAAAAGTAACTCATTGTAGTACCTCGGGGCGGCGGGGAATGGGGTAAGACCGCGGGGAAGGGGGCGCTATTTTCGGGGGCATTTGAAAAGCACGGTCTGGTTGGAATGTTATCGTCTTTCAGATGGCCTCTCCTACTGGAAGTTTCTGTACCCTTTATCAGAAGAGAGGCGCAGGCGGACGGAGGGAAGTCGAGATGAGCGCTAGGGCTGCACCTTGCTCCAGGGCCAGCTGGGAGGGGGAGGGTACCCTAAAGAGGCGCTGAGGTCTCAGAGGGCCTATCGGAAGCCGTTCTTTGTGGCCTGGGATTTCAGCCCACCAGTGTCAGAGTGTTAGTCCCCTTTGTCTAACTCTGCTTTGAGCCCACCAGCCACCAAGCCTTGGACAGGCTGTGAAGTCAACCCTTTGGCGTTTGCTTGCTCCCTCGCTCGCGCTCTCTCTTTCCTACTTCACCTAAGTTCGATGAGTTGAGATCTGTTTTTGCTGAACTCGAAGTGCTTCGAAGAGGCGAGCTGTGTGCATGTGCGCCTAATTATCAAAGCTGGTGGAAAAGAGCCCATTTATATCTGTGCGCAAACTTCTCCGAGCCAACACTTTGCAAGTTCAGTATTCTAGCGCAACGTAGGGACCTGCAAATACTTGCAACTGCGATGGGCACCGAGGACCCTGGGACAGAGTCCTTGATTGGCAGAACTCTTCTTGGTGAACTTCTGCGTGTCCTGTGCCTAAGTCGGCGCGCTACGACCCCGGGAGCCGTTTTAGCCCGGAGCCGCGGGCTCCAGAGCTGGAGCGGGCCGGGGAGAAGGATGCTGAGGGACGCATGGAAAGCAGGCAGGCAGGCAGGGGCGGGGGAAGACTTACGGACATCCTGGCCCTGACACCGAAGGACAGCGGCGACGAGCAGCGTCAGCAGCACCAGCGTCTGGGGAGCCCCGAGGCGAATCACGGCTCACCGCGGGGCCTGGCTGAGCCGGGCCCGGGCGGAGCGCAGCGAAACGGCAGGAGCACGGCGCGGGTCCGGGTCTCTACCGCGCCCTCATGCAGGAGGCCCTTGGAGCAGGAGGGGGAAGCGGGAGACCCGGCAGCCCAGCAGCGCTCTGCGTCTTCTCCCCGCCGCGGCGCCCGTTATATGCGCCCGGCCCCTTTCGAGGCTGGCGAACTCGCCCAAACCGCGGGCCGCCCCCTGCCCCCCGCTGGGCTGTAACCTGAACCGCCCGCCCCCGGAGCCCGCCTGGGCCCTGCCAGTGCCCGCACCTGCCCAAGCCGGACCCCCCTCTCTGGGAGTCACGCTTCCCGCCCTCCACCCCTAGTGCGCCGAGTGGCCTGATCGGGCGGGGCGCAGAGATGGCCCCTGCCCCCCAAACCCGGGGCTGCGGCGCTGCCCCCCTCTGACCACAGGCGGGAAGGGTGGCCTCCGGCCCCTCCCCTCGGAGTTCTGCCGGAGTTGGAGGGGAGGGGGTGTTTGCAGAGGCGCAGGCCGAGAGCCCTAGACCAAGGACGGAAAAGACATGGGAGGGAGGAGGGAAAGCGGTAGAAAGGAGCAGCGGAGGGCGAGGGGGCACCGCGTCAGGCGTTTGGGAGTGGGGACAGGGAGGAGCCCACAGAGATTCAGAGTCCTAAATCTTGGAGACAGGCTAGCTGAGCCAGATCTGAAGGGTTACCCCGACCTATCTTTTAGCCCTTCCCTGCAGTACCTGGTCCCCAGACTCCCACCTGGACGTTCACAGCGACTGCCCTCCACCCCTCCCCCATCCAGCTCTGCGTTGAAGGCTTCCTCTGGAGCACAGGCCGAAGTTGGCCTGAGCCGACAGCCAGGAAAAGAGCTGGTGTGTTACTGCACAGAAGGAGACCTGTGTGAAGGTGTGGGGGGCAGGGGCAGGCCCTGGGAAGGGGACTGAAAGAGCCACAGAGGACGGAGGGAGCCGAGACTAAACGGTGCAAGCTGCCTGCTGTGGGGGGACTGTCTAGCTCCAGGCTCAGACGTGGTGTCTGCTCTTCCTGGCTGGGGTCCGGGAGTCCCCCGGGGAGTGGGCACTGCCGGCCGTCGTAGAGCAGCTTTGGCCAGGGACGGTTGGTCACTGCTGCGGCCCTGGCCAGGGATCGGGGAGGCCGATCCAGCTGGCGAGTTCTGTGAGCCGGGGAGAAGCGCCAGAATTTCCCAGTCGGCCCCCTAGCCCTCCGCTTGCCGCCTCACCTCACCTTCCCCGGTGAGCGCCCTCTCTCACCTTAGCCAAACTGCCTTCTTCCCAGGGCTTAGCTGGTCTCTTCTCTTGGTCTCCGGTGCCTCCTTTCATACCAGGGAGGAAACGTCCCCAAACAGACCTTCCTTTTGAGCGATATGGTCCCCCAAAGAACTATAGGCAAAATGAAACTCAGAATTTGGGGTCTGACTTAACCAGAACTTCTGCCCTCCTGGGCAGTTTTGTTTCTCTGGAGCTTTCCCCCTAGAAGCTGAGAGCACTTGAAAGAAGCTACTTCTGGGCCTTAGGCTTCCACCAGGGGTCCTGGGACCCCATCCCTAGCCTATCATGCTTTGACACTTGTCCTGGTAGAGGCTGGAGTTCCAAGTGCTCTGGTTGGAAAGGGAAAGAACTCATTGTTGAAGGAAATGCTTCTAGGCTTTGTCCAGTCTGGATGGAGATGGGGAAGAATTCAACCAGTTTCCAGCATCTCCCCTACCTTCCACGGGCCTTGTCTGAGTCTCCATGCTCCCATTCAGGGGCTTGCATTAAGCTCTGGGCTCTTCCTCAGGCCCAATCTCTGCTAGAAGAAAGCTGGTCTCTTGCCATCAGTGCCCCATGTCCTCTTTGGGGCTCAGAAGGTCCTATATTCTCTACCTGGAAGATAGAATGACCAAATTCCACACATTTATCAAGACCTCCTAGGTTAAAGCCCCTCTGAGAAGCCTTCTCTGATATCTCTAGAACACAACGTCTCCCTGGCTTTCTGAATCCCCCTGGCATTTATAGCCTAAGCTACATATGTTTTTGTGT
|
Task1_train_17514
|
Mutation context: Chromosome 12, Gene COL2A1 (collagen type II alpha 1 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
|
Pathogenic; Spondyloepiphyseal dysplasia with metatarsal shortening
|
ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCTAATTAAGCAAGCGACCCTAATACCGGATGGAGAATTTGAGAATTATTTTAAAGCCACCCAGCTAATTCCATTGCGCACTAAGGCAGGGGTCAGTCAAGAAGACAGCTTTGTGGGCGTGTGCTTGTAAATGTAGTACAAAAATATAGTCAGTCTGAGTCCAGGCCACGTATAGTCACGCTGTATTCCTCAAATGCCCAGGAGCGCGCCTCCAGCTTAGCGCACTACCGGGTGACCCGGCCAGAGTCTCCTGCTCCCGGCTCCTCGCAGCTGCGCCGCAGGCTCCAGCCCTGCCCCCGCTGCGCTAATGACCGGAAAGCCCGCCTGAGCCCGCCGCCTTCCACGCTATCCCTGGAAACAGCCTGGTGGCAGGAGAGGGCCCACAGAGCCTCGAAGGCAGAGAACTTTTATTCCCCCCGCCGAAGAGTTTCCCTCTGCGATTGATTTACAATCTGTAACATACAAAGACAGGGCTGGAATCCCAGCCGTCGGAAACGTGCCCAAACACGTGGAAAAAAAAATCCTCTCTACCTAATACACTTTCCAGGCTTCGTTTGTCCTGAATATAATCCCAGACAGTGGACCTTACCAAAGGAGGGGTAGAAAGGTGCAGTCCGAACAGCATTTGGACCCGACTACAAGAGCCATCTCTAACTATACCGGTTGAAATAGTTGTAGCAACCGTAGCAATCGACCAGCCTGCTCCCCTTCCCTGACACACACATACACACACACACACGCACACACACACACACCACGCAGCCTGGCTCGGTGAGTTCCAGAATTTAGAAAAGTAACTCATTGTAGTACCTCGGGGCGGCGGGGAATGGGGTAAGACCGCGGGGAAGGGGGCGCTATTTTCGGGGGCATTTGAAAAGCACGGTCTGGTTGGAATGTTATCGTCTTTCAGATGGCCTCTCCTACTGGAAGTTTCTGTACCCTTTATCAGAAGAGAGGCGCAGGCGGACGGAGGGAAGTCGAGATGAGCGCTAGGGCTGCACCTTGCTCCAGGGCCAGCTGGGAGGGGGAGGGTACCCTAAAGAGGCGCTGAGGTCTCAGAGGGCCTATCGGAAGCCGTTCTTTGTGGCCTGGGATTTCAGCCCACCAGTGTCAGAGTGTTAGTCCCCTTTGTCTAACTCTGCTTTGAGCCCACCAGCCACCAAGCCTTGGACAGGCTGTGAAGTCAACCCTTTGGCGTTTGCTTGCTCCCTCGCTCGCGCTCTCTCTTTCCTACTTCACCTAAGTTCGATGAGTTGAGATCTGTTTTTGCTGAACTCGAAGTGCTTCGAAGAGGCGAGCTGTGTGCATGTGCGCCTAATTATCAAAGCTGGTGGAAAAGAGCCCATTTATATCTGTGCGCAAACTTCTCCGAGCCAACACTTTGCAAGTTCAGTATTCTAGCGCAACGTAGGGACCTGCAAATACTTGCAACTGCGATGGGCACCGAGGACCCTGGGACAGAGTCCTTGATTGGCAGAACTCTTCTTGGTGAACTTCTGCGTGTCCTGTGCCTAAGTCGGCGCGCTACGACCCCGGGAGCCGTTTTAGCCCGGAGCCGCGGGCTCCAGAGCTGGAGCGGGCCGGGGAGAAGGATGCTGAGGGACGCATGGAAAGCAGGCAGGCAGGCAGGGGCGGGGGAAGACTTACGGACATCCTGGCCCTGACACCGAAGGACAGCGGCGACGAGCAGCGTCAGCAGCACCAGCGTCTGGGGAGCCCCGAGGCGAATCATGGCTCACCGCGGGGCCTGGCTGAGCCGGGCCCGGGCGGAGCGCAGCGAAACGGCAGGAGCACGGCGCGGGTCCGGGTCTCTACCGCGCCCTCATGCAGGAGGCCCTTGGAGCAGGAGGGGGAAGCGGGAGACCCGGCAGCCCAGCAGCGCTCTGCGTCTTCTCCCCGCCGCGGCGCCCGTTATATGCGCCCGGCCCCTTTCGAGGCTGGCGAACTCGCCCAAACCGCGGGCCGCCCCCTGCCCCCCGCTGGGCTGTAACCTGAACCGCCCGCCCCCGGAGCCCGCCTGGGCCCTGCCAGTGCCCGCACCTGCCCAAGCCGGACCCCCCTCTCTGGGAGTCACGCTTCCCGCCCTCCACCCCTAGTGCGCCGAGTGGCCTGATCGGGCGGGGCGCAGAGATGGCCCCTGCCCCCCAAACCCGGGGCTGCGGCGCTGCCCCCCTCTGACCACAGGCGGGAAGGGTGGCCTCCGGCCCCTCCCCTCGGAGTTCTGCCGGAGTTGGAGGGGAGGGGGTGTTTGCAGAGGCGCAGGCCGAGAGCCCTAGACCAAGGACGGAAAAGACATGGGAGGGAGGAGGGAAAGCGGTAGAAAGGAGCAGCGGAGGGCGAGGGGGCACCGCGTCAGGCGTTTGGGAGTGGGGACAGGGAGGAGCCCACAGAGATTCAGAGTCCTAAATCTTGGAGACAGGCTAGCTGAGCCAGATCTGAAGGGTTACCCCGACCTATCTTTTAGCCCTTCCCTGCAGTACCTGGTCCCCAGACTCCCACCTGGACGTTCACAGCGACTGCCCTCCACCCCTCCCCCATCCAGCTCTGCGTTGAAGGCTTCCTCTGGAGCACAGGCCGAAGTTGGCCTGAGCCGACAGCCAGGAAAAGAGCTGGTGTGTTACTGCACAGAAGGAGACCTGTGTGAAGGTGTGGGGGGCAGGGGCAGGCCCTGGGAAGGGGACTGAAAGAGCCACAGAGGACGGAGGGAGCCGAGACTAAACGGTGCAAGCTGCCTGCTGTGGGGGGACTGTCTAGCTCCAGGCTCAGACGTGGTGTCTGCTCTTCCTGGCTGGGGTCCGGGAGTCCCCCGGGGAGTGGGCACTGCCGGCCGTCGTAGAGCAGCTTTGGCCAGGGACGGTTGGTCACTGCTGCGGCCCTGGCCAGGGATCGGGGAGGCCGATCCAGCTGGCGAGTTCTGTGAGCCGGGGAGAAGCGCCAGAATTTCCCAGTCGGCCCCCTAGCCCTCCGCTTGCCGCCTCACCTCACCTTCCCCGGTGAGCGCCCTCTCTCACCTTAGCCAAACTGCCTTCTTCCCAGGGCTTAGCTGGTCTCTTCTCTTGGTCTCCGGTGCCTCCTTTCATACCAGGGAGGAAACGTCCCCAAACAGACCTTCCTTTTGAGCGATATGGTCCCCCAAAGAACTATAGGCAAAATGAAACTCAGAATTTGGGGTCTGACTTAACCAGAACTTCTGCCCTCCTGGGCAGTTTTGTTTCTCTGGAGCTTTCCCCCTAGAAGCTGAGAGCACTTGAAAGAAGCTACTTCTGGGCCTTAGGCTTCCACCAGGGGTCCTGGGACCCCATCCCTAGCCTATCATGCTTTGACACTTGTCCTGGTAGAGGCTGGAGTTCCAAGTGCTCTGGTTGGAAAGGGAAAGAACTCATTGTTGAAGGAAATGCTTCTAGGCTTTGTCCAGTCTGGATGGAGATGGGGAAGAATTCAACCAGTTTCCAGCATCTCCCCTACCTTCCACGGGCCTTGTCTGAGTCTCCATGCTCCCATTCAGGGGCTTGCATTAAGCTCTGGGCTCTTCCTCAGGCCCAATCTCTGCTAGAAGAAAGCTGGTCTCTTGCCATCAGTGCCCCATGTCCTCTTTGGGGCTCAGAAGGTCCTATATTCTCTACCTGGAAGATAGAATGACCAAATTCCACACATTTATCAAGACCTCCTAGGTTAAAGCCCCTCTGAGAAGCCTTCTCTGATATCTCTAGAACACAACGTCTCCCTGGCTTTCTGAATCCCCCTGGCATTTATAGCCTAAGCTACATATGTTTTTGTGT
|
ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCTAATTAAGCAAGCGACCCTAATACCGGATGGAGAATTTGAGAATTATTTTAAAGCCACCCAGCTAATTCCATTGCGCACTAAGGCAGGGGTCAGTCAAGAAGACAGCTTTGTGGGCGTGTGCTTGTAAATGTAGTACAAAAATATAGTCAGTCTGAGTCCAGGCCACGTATAGTCACGCTGTATTCCTCAAATGCCCAGGAGCGCGCCTCCAGCTTAGCGCACTACCGGGTGACCCGGCCAGAGTCTCCTGCTCCCGGCTCCTCGCAGCTGCGCCGCAGGCTCCAGCCCTGCCCCCGCTGCGCTAATGACCGGAAAGCCCGCCTGAGCCCGCCGCCTTCCACGCTATCCCTGGAAACAGCCTGGTGGCAGGAGAGGGCCCACAGAGCCTCGAAGGCAGAGAACTTTTATTCCCCCCGCCGAAGAGTTTCCCTCTGCGATTGATTTACAATCTGTAACATACAAAGACAGGGCTGGAATCCCAGCCGTCGGAAACGTGCCCAAACACGTGGAAAAAAAAATCCTCTCTACCTAATACACTTTCCAGGCTTCGTTTGTCCTGAATATAATCCCAGACAGTGGACCTTACCAAAGGAGGGGTAGAAAGGTGCAGTCCGAACAGCATTTGGACCCGACTACAAGAGCCATCTCTAACTATACCGGTTGAAATAGTTGTAGCAACCGTAGCAATCGACCAGCCTGCTCCCCTTCCCTGACACACACATACACACACACACACGCACACACACACACACCACGCAGCCTGGCTCGGTGAGTTCCAGAATTTAGAAAAGTAACTCATTGTAGTACCTCGGGGCGGCGGGGAATGGGGTAAGACCGCGGGGAAGGGGGCGCTATTTTCGGGGGCATTTGAAAAGCACGGTCTGGTTGGAATGTTATCGTCTTTCAGATGGCCTCTCCTACTGGAAGTTTCTGTACCCTTTATCAGAAGAGAGGCGCAGGCGGACGGAGGGAAGTCGAGATGAGCGCTAGGGCTGCACCTTGCTCCAGGGCCAGCTGGGAGGGGGAGGGTACCCTAAAGAGGCGCTGAGGTCTCAGAGGGCCTATCGGAAGCCGTTCTTTGTGGCCTGGGATTTCAGCCCACCAGTGTCAGAGTGTTAGTCCCCTTTGTCTAACTCTGCTTTGAGCCCACCAGCCACCAAGCCTTGGACAGGCTGTGAAGTCAACCCTTTGGCGTTTGCTTGCTCCCTCGCTCGCGCTCTCTCTTTCCTACTTCACCTAAGTTCGATGAGTTGAGATCTGTTTTTGCTGAACTCGAAGTGCTTCGAAGAGGCGAGCTGTGTGCATGTGCGCCTAATTATCAAAGCTGGTGGAAAAGAGCCCATTTATATCTGTGCGCAAACTTCTCCGAGCCAACACTTTGCAAGTTCAGTATTCTAGCGCAACGTAGGGACCTGCAAATACTTGCAACTGCGATGGGCACCGAGGACCCTGGGACAGAGTCCTTGATTGGCAGAACTCTTCTTGGTGAACTTCTGCGTGTCCTGTGCCTAAGTCGGCGCGCTACGACCCCGGGAGCCGTTTTAGCCCGGAGCCGCGGGCTCCAGAGCTGGAGCGGGCCGGGGAGAAGGATGCTGAGGGACGCATGGAAAGCAGGCAGGCAGGCAGGGGCGGGGGAAGACTTACGGACATCCTGGCCCTGACACCGAAGGACAGCGGCGACGAGCAGCGTCAGCAGCACCAGCGTCTGGGGAGCCCCGAGGCGAATCACGGCTCACCGCGGGGCCTGGCTGAGCCGGGCCCGGGCGGAGCGCAGCGAAACGGCAGGAGCACGGCGCGGGTCCGGGTCTCTACCGCGCCCTCATGCAGGAGGCCCTTGGAGCAGGAGGGGGAAGCGGGAGACCCGGCAGCCCAGCAGCGCTCTGCGTCTTCTCCCCGCCGCGGCGCCCGTTATATGCGCCCGGCCCCTTTCGAGGCTGGCGAACTCGCCCAAACCGCGGGCCGCCCCCTGCCCCCCGCTGGGCTGTAACCTGAACCGCCCGCCCCCGGAGCCCGCCTGGGCCCTGCCAGTGCCCGCACCTGCCCAAGCCGGACCCCCCTCTCTGGGAGTCACGCTTCCCGCCCTCCACCCCTAGTGCGCCGAGTGGCCTGATCGGGCGGGGCGCAGAGATGGCCCCTGCCCCCCAAACCCGGGGCTGCGGCGCTGCCCCCCTCTGACCACAGGCGGGAAGGGTGGCCTCCGGCCCCTCCCCTCGGAGTTCTGCCGGAGTTGGAGGGGAGGGGGTGTTTGCAGAGGCGCAGGCCGAGAGCCCTAGACCAAGGACGGAAAAGACATGGGAGGGAGGAGGGAAAGCGGTAGAAAGGAGCAGCGGAGGGCGAGGGGGCACCGCGTCAGGCGTTTGGGAGTGGGGACAGGGAGGAGCCCACAGAGATTCAGAGTCCTAAATCTTGGAGACAGGCTAGCTGAGCCAGATCTGAAGGGTTACCCCGACCTATCTTTTAGCCCTTCCCTGCAGTACCTGGTCCCCAGACTCCCACCTGGACGTTCACAGCGACTGCCCTCCACCCCTCCCCCATCCAGCTCTGCGTTGAAGGCTTCCTCTGGAGCACAGGCCGAAGTTGGCCTGAGCCGACAGCCAGGAAAAGAGCTGGTGTGTTACTGCACAGAAGGAGACCTGTGTGAAGGTGTGGGGGGCAGGGGCAGGCCCTGGGAAGGGGACTGAAAGAGCCACAGAGGACGGAGGGAGCCGAGACTAAACGGTGCAAGCTGCCTGCTGTGGGGGGACTGTCTAGCTCCAGGCTCAGACGTGGTGTCTGCTCTTCCTGGCTGGGGTCCGGGAGTCCCCCGGGGAGTGGGCACTGCCGGCCGTCGTAGAGCAGCTTTGGCCAGGGACGGTTGGTCACTGCTGCGGCCCTGGCCAGGGATCGGGGAGGCCGATCCAGCTGGCGAGTTCTGTGAGCCGGGGAGAAGCGCCAGAATTTCCCAGTCGGCCCCCTAGCCCTCCGCTTGCCGCCTCACCTCACCTTCCCCGGTGAGCGCCCTCTCTCACCTTAGCCAAACTGCCTTCTTCCCAGGGCTTAGCTGGTCTCTTCTCTTGGTCTCCGGTGCCTCCTTTCATACCAGGGAGGAAACGTCCCCAAACAGACCTTCCTTTTGAGCGATATGGTCCCCCAAAGAACTATAGGCAAAATGAAACTCAGAATTTGGGGTCTGACTTAACCAGAACTTCTGCCCTCCTGGGCAGTTTTGTTTCTCTGGAGCTTTCCCCCTAGAAGCTGAGAGCACTTGAAAGAAGCTACTTCTGGGCCTTAGGCTTCCACCAGGGGTCCTGGGACCCCATCCCTAGCCTATCATGCTTTGACACTTGTCCTGGTAGAGGCTGGAGTTCCAAGTGCTCTGGTTGGAAAGGGAAAGAACTCATTGTTGAAGGAAATGCTTCTAGGCTTTGTCCAGTCTGGATGGAGATGGGGAAGAATTCAACCAGTTTCCAGCATCTCCCCTACCTTCCACGGGCCTTGTCTGAGTCTCCATGCTCCCATTCAGGGGCTTGCATTAAGCTCTGGGCTCTTCCTCAGGCCCAATCTCTGCTAGAAGAAAGCTGGTCTCTTGCCATCAGTGCCCCATGTCCTCTTTGGGGCTCAGAAGGTCCTATATTCTCTACCTGGAAGATAGAATGACCAAATTCCACACATTTATCAAGACCTCCTAGGTTAAAGCCCCTCTGAGAAGCCTTCTCTGATATCTCTAGAACACAACGTCTCCCTGGCTTTCTGAATCCCCCTGGCATTTATAGCCTAAGCTACATATGTTTTTGTGT
|
Task1_train_17515
|
Here’s a variant in COL2A1 (collagen type II alpha 1 chain) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; Platyspondylic dysplasia, Torrance type
|
ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCTAATTAAGCAAGCGACCCTAATACCGGATGGAGAATTTGAGAATTATTTTAAAGCCACCCAGCTAATTCCATTGCGCACTAAGGCAGGGGTCAGTCAAGAAGACAGCTTTGTGGGCGTGTGCTTGTAAATGTAGTACAAAAATATAGTCAGTCTGAGTCCAGGCCACGTATAGTCACGCTGTATTCCTCAAATGCCCAGGAGCGCGCCTCCAGCTTAGCGCACTACCGGGTGACCCGGCCAGAGTCTCCTGCTCCCGGCTCCTCGCAGCTGCGCCGCAGGCTCCAGCCCTGCCCCCGCTGCGCTAATGACCGGAAAGCCCGCCTGAGCCCGCCGCCTTCCACGCTATCCCTGGAAACAGCCTGGTGGCAGGAGAGGGCCCACAGAGCCTCGAAGGCAGAGAACTTTTATTCCCCCCGCCGAAGAGTTTCCCTCTGCGATTGATTTACAATCTGTAACATACAAAGACAGGGCTGGAATCCCAGCCGTCGGAAACGTGCCCAAACACGTGGAAAAAAAAATCCTCTCTACCTAATACACTTTCCAGGCTTCGTTTGTCCTGAATATAATCCCAGACAGTGGACCTTACCAAAGGAGGGGTAGAAAGGTGCAGTCCGAACAGCATTTGGACCCGACTACAAGAGCCATCTCTAACTATACCGGTTGAAATAGTTGTAGCAACCGTAGCAATCGACCAGCCTGCTCCCCTTCCCTGACACACACATACACACACACACACGCACACACACACACACCACGCAGCCTGGCTCGGTGAGTTCCAGAATTTAGAAAAGTAACTCATTGTAGTACCTCGGGGCGGCGGGGAATGGGGTAAGACCGCGGGGAAGGGGGCGCTATTTTCGGGGGCATTTGAAAAGCACGGTCTGGTTGGAATGTTATCGTCTTTCAGATGGCCTCTCCTACTGGAAGTTTCTGTACCCTTTATCAGAAGAGAGGCGCAGGCGGACGGAGGGAAGTCGAGATGAGCGCTAGGGCTGCACCTTGCTCCAGGGCCAGCTGGGAGGGGGAGGGTACCCTAAAGAGGCGCTGAGGTCTCAGAGGGCCTATCGGAAGCCGTTCTTTGTGGCCTGGGATTTCAGCCCACCAGTGTCAGAGTGTTAGTCCCCTTTGTCTAACTCTGCTTTGAGCCCACCAGCCACCAAGCCTTGGACAGGCTGTGAAGTCAACCCTTTGGCGTTTGCTTGCTCCCTCGCTCGCGCTCTCTCTTTCCTACTTCACCTAAGTTCGATGAGTTGAGATCTGTTTTTGCTGAACTCGAAGTGCTTCGAAGAGGCGAGCTGTGTGCATGTGCGCCTAATTATCAAAGCTGGTGGAAAAGAGCCCATTTATATCTGTGCGCAAACTTCTCCGAGCCAACACTTTGCAAGTTCAGTATTCTAGCGCAACGTAGGGACCTGCAAATACTTGCAACTGCGATGGGCACCGAGGACCCTGGGACAGAGTCCTTGATTGGCAGAACTCTTCTTGGTGAACTTCTGCGTGTCCTGTGCCTAAGTCGGCGCGCTACGACCCCGGGAGCCGTTTTAGCCCGGAGCCGCGGGCTCCAGAGCTGGAGCGGGCCGGGGAGAAGGATGCTGAGGGACGCATGGAAAGCAGGCAGGCAGGCAGGGGCGGGGGAAGACTTACGGACATCCTGGCCCTGACACCGAAGGACAGCGGCGACGAGCAGCGTCAGCAGCACCAGCGTCTGGGGAGCCCCGAGGCGAATCATGGCTCACCGCGGGGCCTGGCTGAGCCGGGCCCGGGCGGAGCGCAGCGAAACGGCAGGAGCACGGCGCGGGTCCGGGTCTCTACCGCGCCCTCATGCAGGAGGCCCTTGGAGCAGGAGGGGGAAGCGGGAGACCCGGCAGCCCAGCAGCGCTCTGCGTCTTCTCCCCGCCGCGGCGCCCGTTATATGCGCCCGGCCCCTTTCGAGGCTGGCGAACTCGCCCAAACCGCGGGCCGCCCCCTGCCCCCCGCTGGGCTGTAACCTGAACCGCCCGCCCCCGGAGCCCGCCTGGGCCCTGCCAGTGCCCGCACCTGCCCAAGCCGGACCCCCCTCTCTGGGAGTCACGCTTCCCGCCCTCCACCCCTAGTGCGCCGAGTGGCCTGATCGGGCGGGGCGCAGAGATGGCCCCTGCCCCCCAAACCCGGGGCTGCGGCGCTGCCCCCCTCTGACCACAGGCGGGAAGGGTGGCCTCCGGCCCCTCCCCTCGGAGTTCTGCCGGAGTTGGAGGGGAGGGGGTGTTTGCAGAGGCGCAGGCCGAGAGCCCTAGACCAAGGACGGAAAAGACATGGGAGGGAGGAGGGAAAGCGGTAGAAAGGAGCAGCGGAGGGCGAGGGGGCACCGCGTCAGGCGTTTGGGAGTGGGGACAGGGAGGAGCCCACAGAGATTCAGAGTCCTAAATCTTGGAGACAGGCTAGCTGAGCCAGATCTGAAGGGTTACCCCGACCTATCTTTTAGCCCTTCCCTGCAGTACCTGGTCCCCAGACTCCCACCTGGACGTTCACAGCGACTGCCCTCCACCCCTCCCCCATCCAGCTCTGCGTTGAAGGCTTCCTCTGGAGCACAGGCCGAAGTTGGCCTGAGCCGACAGCCAGGAAAAGAGCTGGTGTGTTACTGCACAGAAGGAGACCTGTGTGAAGGTGTGGGGGGCAGGGGCAGGCCCTGGGAAGGGGACTGAAAGAGCCACAGAGGACGGAGGGAGCCGAGACTAAACGGTGCAAGCTGCCTGCTGTGGGGGGACTGTCTAGCTCCAGGCTCAGACGTGGTGTCTGCTCTTCCTGGCTGGGGTCCGGGAGTCCCCCGGGGAGTGGGCACTGCCGGCCGTCGTAGAGCAGCTTTGGCCAGGGACGGTTGGTCACTGCTGCGGCCCTGGCCAGGGATCGGGGAGGCCGATCCAGCTGGCGAGTTCTGTGAGCCGGGGAGAAGCGCCAGAATTTCCCAGTCGGCCCCCTAGCCCTCCGCTTGCCGCCTCACCTCACCTTCCCCGGTGAGCGCCCTCTCTCACCTTAGCCAAACTGCCTTCTTCCCAGGGCTTAGCTGGTCTCTTCTCTTGGTCTCCGGTGCCTCCTTTCATACCAGGGAGGAAACGTCCCCAAACAGACCTTCCTTTTGAGCGATATGGTCCCCCAAAGAACTATAGGCAAAATGAAACTCAGAATTTGGGGTCTGACTTAACCAGAACTTCTGCCCTCCTGGGCAGTTTTGTTTCTCTGGAGCTTTCCCCCTAGAAGCTGAGAGCACTTGAAAGAAGCTACTTCTGGGCCTTAGGCTTCCACCAGGGGTCCTGGGACCCCATCCCTAGCCTATCATGCTTTGACACTTGTCCTGGTAGAGGCTGGAGTTCCAAGTGCTCTGGTTGGAAAGGGAAAGAACTCATTGTTGAAGGAAATGCTTCTAGGCTTTGTCCAGTCTGGATGGAGATGGGGAAGAATTCAACCAGTTTCCAGCATCTCCCCTACCTTCCACGGGCCTTGTCTGAGTCTCCATGCTCCCATTCAGGGGCTTGCATTAAGCTCTGGGCTCTTCCTCAGGCCCAATCTCTGCTAGAAGAAAGCTGGTCTCTTGCCATCAGTGCCCCATGTCCTCTTTGGGGCTCAGAAGGTCCTATATTCTCTACCTGGAAGATAGAATGACCAAATTCCACACATTTATCAAGACCTCCTAGGTTAAAGCCCCTCTGAGAAGCCTTCTCTGATATCTCTAGAACACAACGTCTCCCTGGCTTTCTGAATCCCCCTGGCATTTATAGCCTAAGCTACATATGTTTTTGTGT
|
ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCTAATTAAGCAAGCGACCCTAATACCGGATGGAGAATTTGAGAATTATTTTAAAGCCACCCAGCTAATTCCATTGCGCACTAAGGCAGGGGTCAGTCAAGAAGACAGCTTTGTGGGCGTGTGCTTGTAAATGTAGTACAAAAATATAGTCAGTCTGAGTCCAGGCCACGTATAGTCACGCTGTATTCCTCAAATGCCCAGGAGCGCGCCTCCAGCTTAGCGCACTACCGGGTGACCCGGCCAGAGTCTCCTGCTCCCGGCTCCTCGCAGCTGCGCCGCAGGCTCCAGCCCTGCCCCCGCTGCGCTAATGACCGGAAAGCCCGCCTGAGCCCGCCGCCTTCCACGCTATCCCTGGAAACAGCCTGGTGGCAGGAGAGGGCCCACAGAGCCTCGAAGGCAGAGAACTTTTATTCCCCCCGCCGAAGAGTTTCCCTCTGCGATTGATTTACAATCTGTAACATACAAAGACAGGGCTGGAATCCCAGCCGTCGGAAACGTGCCCAAACACGTGGAAAAAAAAATCCTCTCTACCTAATACACTTTCCAGGCTTCGTTTGTCCTGAATATAATCCCAGACAGTGGACCTTACCAAAGGAGGGGTAGAAAGGTGCAGTCCGAACAGCATTTGGACCCGACTACAAGAGCCATCTCTAACTATACCGGTTGAAATAGTTGTAGCAACCGTAGCAATCGACCAGCCTGCTCCCCTTCCCTGACACACACATACACACACACACACGCACACACACACACACCACGCAGCCTGGCTCGGTGAGTTCCAGAATTTAGAAAAGTAACTCATTGTAGTACCTCGGGGCGGCGGGGAATGGGGTAAGACCGCGGGGAAGGGGGCGCTATTTTCGGGGGCATTTGAAAAGCACGGTCTGGTTGGAATGTTATCGTCTTTCAGATGGCCTCTCCTACTGGAAGTTTCTGTACCCTTTATCAGAAGAGAGGCGCAGGCGGACGGAGGGAAGTCGAGATGAGCGCTAGGGCTGCACCTTGCTCCAGGGCCAGCTGGGAGGGGGAGGGTACCCTAAAGAGGCGCTGAGGTCTCAGAGGGCCTATCGGAAGCCGTTCTTTGTGGCCTGGGATTTCAGCCCACCAGTGTCAGAGTGTTAGTCCCCTTTGTCTAACTCTGCTTTGAGCCCACCAGCCACCAAGCCTTGGACAGGCTGTGAAGTCAACCCTTTGGCGTTTGCTTGCTCCCTCGCTCGCGCTCTCTCTTTCCTACTTCACCTAAGTTCGATGAGTTGAGATCTGTTTTTGCTGAACTCGAAGTGCTTCGAAGAGGCGAGCTGTGTGCATGTGCGCCTAATTATCAAAGCTGGTGGAAAAGAGCCCATTTATATCTGTGCGCAAACTTCTCCGAGCCAACACTTTGCAAGTTCAGTATTCTAGCGCAACGTAGGGACCTGCAAATACTTGCAACTGCGATGGGCACCGAGGACCCTGGGACAGAGTCCTTGATTGGCAGAACTCTTCTTGGTGAACTTCTGCGTGTCCTGTGCCTAAGTCGGCGCGCTACGACCCCGGGAGCCGTTTTAGCCCGGAGCCGCGGGCTCCAGAGCTGGAGCGGGCCGGGGAGAAGGATGCTGAGGGACGCATGGAAAGCAGGCAGGCAGGCAGGGGCGGGGGAAGACTTACGGACATCCTGGCCCTGACACCGAAGGACAGCGGCGACGAGCAGCGTCAGCAGCACCAGCGTCTGGGGAGCCCCGAGGCGAATCACGGCTCACCGCGGGGCCTGGCTGAGCCGGGCCCGGGCGGAGCGCAGCGAAACGGCAGGAGCACGGCGCGGGTCCGGGTCTCTACCGCGCCCTCATGCAGGAGGCCCTTGGAGCAGGAGGGGGAAGCGGGAGACCCGGCAGCCCAGCAGCGCTCTGCGTCTTCTCCCCGCCGCGGCGCCCGTTATATGCGCCCGGCCCCTTTCGAGGCTGGCGAACTCGCCCAAACCGCGGGCCGCCCCCTGCCCCCCGCTGGGCTGTAACCTGAACCGCCCGCCCCCGGAGCCCGCCTGGGCCCTGCCAGTGCCCGCACCTGCCCAAGCCGGACCCCCCTCTCTGGGAGTCACGCTTCCCGCCCTCCACCCCTAGTGCGCCGAGTGGCCTGATCGGGCGGGGCGCAGAGATGGCCCCTGCCCCCCAAACCCGGGGCTGCGGCGCTGCCCCCCTCTGACCACAGGCGGGAAGGGTGGCCTCCGGCCCCTCCCCTCGGAGTTCTGCCGGAGTTGGAGGGGAGGGGGTGTTTGCAGAGGCGCAGGCCGAGAGCCCTAGACCAAGGACGGAAAAGACATGGGAGGGAGGAGGGAAAGCGGTAGAAAGGAGCAGCGGAGGGCGAGGGGGCACCGCGTCAGGCGTTTGGGAGTGGGGACAGGGAGGAGCCCACAGAGATTCAGAGTCCTAAATCTTGGAGACAGGCTAGCTGAGCCAGATCTGAAGGGTTACCCCGACCTATCTTTTAGCCCTTCCCTGCAGTACCTGGTCCCCAGACTCCCACCTGGACGTTCACAGCGACTGCCCTCCACCCCTCCCCCATCCAGCTCTGCGTTGAAGGCTTCCTCTGGAGCACAGGCCGAAGTTGGCCTGAGCCGACAGCCAGGAAAAGAGCTGGTGTGTTACTGCACAGAAGGAGACCTGTGTGAAGGTGTGGGGGGCAGGGGCAGGCCCTGGGAAGGGGACTGAAAGAGCCACAGAGGACGGAGGGAGCCGAGACTAAACGGTGCAAGCTGCCTGCTGTGGGGGGACTGTCTAGCTCCAGGCTCAGACGTGGTGTCTGCTCTTCCTGGCTGGGGTCCGGGAGTCCCCCGGGGAGTGGGCACTGCCGGCCGTCGTAGAGCAGCTTTGGCCAGGGACGGTTGGTCACTGCTGCGGCCCTGGCCAGGGATCGGGGAGGCCGATCCAGCTGGCGAGTTCTGTGAGCCGGGGAGAAGCGCCAGAATTTCCCAGTCGGCCCCCTAGCCCTCCGCTTGCCGCCTCACCTCACCTTCCCCGGTGAGCGCCCTCTCTCACCTTAGCCAAACTGCCTTCTTCCCAGGGCTTAGCTGGTCTCTTCTCTTGGTCTCCGGTGCCTCCTTTCATACCAGGGAGGAAACGTCCCCAAACAGACCTTCCTTTTGAGCGATATGGTCCCCCAAAGAACTATAGGCAAAATGAAACTCAGAATTTGGGGTCTGACTTAACCAGAACTTCTGCCCTCCTGGGCAGTTTTGTTTCTCTGGAGCTTTCCCCCTAGAAGCTGAGAGCACTTGAAAGAAGCTACTTCTGGGCCTTAGGCTTCCACCAGGGGTCCTGGGACCCCATCCCTAGCCTATCATGCTTTGACACTTGTCCTGGTAGAGGCTGGAGTTCCAAGTGCTCTGGTTGGAAAGGGAAAGAACTCATTGTTGAAGGAAATGCTTCTAGGCTTTGTCCAGTCTGGATGGAGATGGGGAAGAATTCAACCAGTTTCCAGCATCTCCCCTACCTTCCACGGGCCTTGTCTGAGTCTCCATGCTCCCATTCAGGGGCTTGCATTAAGCTCTGGGCTCTTCCTCAGGCCCAATCTCTGCTAGAAGAAAGCTGGTCTCTTGCCATCAGTGCCCCATGTCCTCTTTGGGGCTCAGAAGGTCCTATATTCTCTACCTGGAAGATAGAATGACCAAATTCCACACATTTATCAAGACCTCCTAGGTTAAAGCCCCTCTGAGAAGCCTTCTCTGATATCTCTAGAACACAACGTCTCCCTGGCTTTCTGAATCCCCCTGGCATTTATAGCCTAAGCTACATATGTTTTTGTGT
|
Task1_train_17516
|
An alteration has been detected in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Achondrogenesis type II
|
ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCTAATTAAGCAAGCGACCCTAATACCGGATGGAGAATTTGAGAATTATTTTAAAGCCACCCAGCTAATTCCATTGCGCACTAAGGCAGGGGTCAGTCAAGAAGACAGCTTTGTGGGCGTGTGCTTGTAAATGTAGTACAAAAATATAGTCAGTCTGAGTCCAGGCCACGTATAGTCACGCTGTATTCCTCAAATGCCCAGGAGCGCGCCTCCAGCTTAGCGCACTACCGGGTGACCCGGCCAGAGTCTCCTGCTCCCGGCTCCTCGCAGCTGCGCCGCAGGCTCCAGCCCTGCCCCCGCTGCGCTAATGACCGGAAAGCCCGCCTGAGCCCGCCGCCTTCCACGCTATCCCTGGAAACAGCCTGGTGGCAGGAGAGGGCCCACAGAGCCTCGAAGGCAGAGAACTTTTATTCCCCCCGCCGAAGAGTTTCCCTCTGCGATTGATTTACAATCTGTAACATACAAAGACAGGGCTGGAATCCCAGCCGTCGGAAACGTGCCCAAACACGTGGAAAAAAAAATCCTCTCTACCTAATACACTTTCCAGGCTTCGTTTGTCCTGAATATAATCCCAGACAGTGGACCTTACCAAAGGAGGGGTAGAAAGGTGCAGTCCGAACAGCATTTGGACCCGACTACAAGAGCCATCTCTAACTATACCGGTTGAAATAGTTGTAGCAACCGTAGCAATCGACCAGCCTGCTCCCCTTCCCTGACACACACATACACACACACACACGCACACACACACACACCACGCAGCCTGGCTCGGTGAGTTCCAGAATTTAGAAAAGTAACTCATTGTAGTACCTCGGGGCGGCGGGGAATGGGGTAAGACCGCGGGGAAGGGGGCGCTATTTTCGGGGGCATTTGAAAAGCACGGTCTGGTTGGAATGTTATCGTCTTTCAGATGGCCTCTCCTACTGGAAGTTTCTGTACCCTTTATCAGAAGAGAGGCGCAGGCGGACGGAGGGAAGTCGAGATGAGCGCTAGGGCTGCACCTTGCTCCAGGGCCAGCTGGGAGGGGGAGGGTACCCTAAAGAGGCGCTGAGGTCTCAGAGGGCCTATCGGAAGCCGTTCTTTGTGGCCTGGGATTTCAGCCCACCAGTGTCAGAGTGTTAGTCCCCTTTGTCTAACTCTGCTTTGAGCCCACCAGCCACCAAGCCTTGGACAGGCTGTGAAGTCAACCCTTTGGCGTTTGCTTGCTCCCTCGCTCGCGCTCTCTCTTTCCTACTTCACCTAAGTTCGATGAGTTGAGATCTGTTTTTGCTGAACTCGAAGTGCTTCGAAGAGGCGAGCTGTGTGCATGTGCGCCTAATTATCAAAGCTGGTGGAAAAGAGCCCATTTATATCTGTGCGCAAACTTCTCCGAGCCAACACTTTGCAAGTTCAGTATTCTAGCGCAACGTAGGGACCTGCAAATACTTGCAACTGCGATGGGCACCGAGGACCCTGGGACAGAGTCCTTGATTGGCAGAACTCTTCTTGGTGAACTTCTGCGTGTCCTGTGCCTAAGTCGGCGCGCTACGACCCCGGGAGCCGTTTTAGCCCGGAGCCGCGGGCTCCAGAGCTGGAGCGGGCCGGGGAGAAGGATGCTGAGGGACGCATGGAAAGCAGGCAGGCAGGCAGGGGCGGGGGAAGACTTACGGACATCCTGGCCCTGACACCGAAGGACAGCGGCGACGAGCAGCGTCAGCAGCACCAGCGTCTGGGGAGCCCCGAGGCGAATCATGGCTCACCGCGGGGCCTGGCTGAGCCGGGCCCGGGCGGAGCGCAGCGAAACGGCAGGAGCACGGCGCGGGTCCGGGTCTCTACCGCGCCCTCATGCAGGAGGCCCTTGGAGCAGGAGGGGGAAGCGGGAGACCCGGCAGCCCAGCAGCGCTCTGCGTCTTCTCCCCGCCGCGGCGCCCGTTATATGCGCCCGGCCCCTTTCGAGGCTGGCGAACTCGCCCAAACCGCGGGCCGCCCCCTGCCCCCCGCTGGGCTGTAACCTGAACCGCCCGCCCCCGGAGCCCGCCTGGGCCCTGCCAGTGCCCGCACCTGCCCAAGCCGGACCCCCCTCTCTGGGAGTCACGCTTCCCGCCCTCCACCCCTAGTGCGCCGAGTGGCCTGATCGGGCGGGGCGCAGAGATGGCCCCTGCCCCCCAAACCCGGGGCTGCGGCGCTGCCCCCCTCTGACCACAGGCGGGAAGGGTGGCCTCCGGCCCCTCCCCTCGGAGTTCTGCCGGAGTTGGAGGGGAGGGGGTGTTTGCAGAGGCGCAGGCCGAGAGCCCTAGACCAAGGACGGAAAAGACATGGGAGGGAGGAGGGAAAGCGGTAGAAAGGAGCAGCGGAGGGCGAGGGGGCACCGCGTCAGGCGTTTGGGAGTGGGGACAGGGAGGAGCCCACAGAGATTCAGAGTCCTAAATCTTGGAGACAGGCTAGCTGAGCCAGATCTGAAGGGTTACCCCGACCTATCTTTTAGCCCTTCCCTGCAGTACCTGGTCCCCAGACTCCCACCTGGACGTTCACAGCGACTGCCCTCCACCCCTCCCCCATCCAGCTCTGCGTTGAAGGCTTCCTCTGGAGCACAGGCCGAAGTTGGCCTGAGCCGACAGCCAGGAAAAGAGCTGGTGTGTTACTGCACAGAAGGAGACCTGTGTGAAGGTGTGGGGGGCAGGGGCAGGCCCTGGGAAGGGGACTGAAAGAGCCACAGAGGACGGAGGGAGCCGAGACTAAACGGTGCAAGCTGCCTGCTGTGGGGGGACTGTCTAGCTCCAGGCTCAGACGTGGTGTCTGCTCTTCCTGGCTGGGGTCCGGGAGTCCCCCGGGGAGTGGGCACTGCCGGCCGTCGTAGAGCAGCTTTGGCCAGGGACGGTTGGTCACTGCTGCGGCCCTGGCCAGGGATCGGGGAGGCCGATCCAGCTGGCGAGTTCTGTGAGCCGGGGAGAAGCGCCAGAATTTCCCAGTCGGCCCCCTAGCCCTCCGCTTGCCGCCTCACCTCACCTTCCCCGGTGAGCGCCCTCTCTCACCTTAGCCAAACTGCCTTCTTCCCAGGGCTTAGCTGGTCTCTTCTCTTGGTCTCCGGTGCCTCCTTTCATACCAGGGAGGAAACGTCCCCAAACAGACCTTCCTTTTGAGCGATATGGTCCCCCAAAGAACTATAGGCAAAATGAAACTCAGAATTTGGGGTCTGACTTAACCAGAACTTCTGCCCTCCTGGGCAGTTTTGTTTCTCTGGAGCTTTCCCCCTAGAAGCTGAGAGCACTTGAAAGAAGCTACTTCTGGGCCTTAGGCTTCCACCAGGGGTCCTGGGACCCCATCCCTAGCCTATCATGCTTTGACACTTGTCCTGGTAGAGGCTGGAGTTCCAAGTGCTCTGGTTGGAAAGGGAAAGAACTCATTGTTGAAGGAAATGCTTCTAGGCTTTGTCCAGTCTGGATGGAGATGGGGAAGAATTCAACCAGTTTCCAGCATCTCCCCTACCTTCCACGGGCCTTGTCTGAGTCTCCATGCTCCCATTCAGGGGCTTGCATTAAGCTCTGGGCTCTTCCTCAGGCCCAATCTCTGCTAGAAGAAAGCTGGTCTCTTGCCATCAGTGCCCCATGTCCTCTTTGGGGCTCAGAAGGTCCTATATTCTCTACCTGGAAGATAGAATGACCAAATTCCACACATTTATCAAGACCTCCTAGGTTAAAGCCCCTCTGAGAAGCCTTCTCTGATATCTCTAGAACACAACGTCTCCCTGGCTTTCTGAATCCCCCTGGCATTTATAGCCTAAGCTACATATGTTTTTGTGT
|
ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCTAATTAAGCAAGCGACCCTAATACCGGATGGAGAATTTGAGAATTATTTTAAAGCCACCCAGCTAATTCCATTGCGCACTAAGGCAGGGGTCAGTCAAGAAGACAGCTTTGTGGGCGTGTGCTTGTAAATGTAGTACAAAAATATAGTCAGTCTGAGTCCAGGCCACGTATAGTCACGCTGTATTCCTCAAATGCCCAGGAGCGCGCCTCCAGCTTAGCGCACTACCGGGTGACCCGGCCAGAGTCTCCTGCTCCCGGCTCCTCGCAGCTGCGCCGCAGGCTCCAGCCCTGCCCCCGCTGCGCTAATGACCGGAAAGCCCGCCTGAGCCCGCCGCCTTCCACGCTATCCCTGGAAACAGCCTGGTGGCAGGAGAGGGCCCACAGAGCCTCGAAGGCAGAGAACTTTTATTCCCCCCGCCGAAGAGTTTCCCTCTGCGATTGATTTACAATCTGTAACATACAAAGACAGGGCTGGAATCCCAGCCGTCGGAAACGTGCCCAAACACGTGGAAAAAAAAATCCTCTCTACCTAATACACTTTCCAGGCTTCGTTTGTCCTGAATATAATCCCAGACAGTGGACCTTACCAAAGGAGGGGTAGAAAGGTGCAGTCCGAACAGCATTTGGACCCGACTACAAGAGCCATCTCTAACTATACCGGTTGAAATAGTTGTAGCAACCGTAGCAATCGACCAGCCTGCTCCCCTTCCCTGACACACACATACACACACACACACGCACACACACACACACCACGCAGCCTGGCTCGGTGAGTTCCAGAATTTAGAAAAGTAACTCATTGTAGTACCTCGGGGCGGCGGGGAATGGGGTAAGACCGCGGGGAAGGGGGCGCTATTTTCGGGGGCATTTGAAAAGCACGGTCTGGTTGGAATGTTATCGTCTTTCAGATGGCCTCTCCTACTGGAAGTTTCTGTACCCTTTATCAGAAGAGAGGCGCAGGCGGACGGAGGGAAGTCGAGATGAGCGCTAGGGCTGCACCTTGCTCCAGGGCCAGCTGGGAGGGGGAGGGTACCCTAAAGAGGCGCTGAGGTCTCAGAGGGCCTATCGGAAGCCGTTCTTTGTGGCCTGGGATTTCAGCCCACCAGTGTCAGAGTGTTAGTCCCCTTTGTCTAACTCTGCTTTGAGCCCACCAGCCACCAAGCCTTGGACAGGCTGTGAAGTCAACCCTTTGGCGTTTGCTTGCTCCCTCGCTCGCGCTCTCTCTTTCCTACTTCACCTAAGTTCGATGAGTTGAGATCTGTTTTTGCTGAACTCGAAGTGCTTCGAAGAGGCGAGCTGTGTGCATGTGCGCCTAATTATCAAAGCTGGTGGAAAAGAGCCCATTTATATCTGTGCGCAAACTTCTCCGAGCCAACACTTTGCAAGTTCAGTATTCTAGCGCAACGTAGGGACCTGCAAATACTTGCAACTGCGATGGGCACCGAGGACCCTGGGACAGAGTCCTTGATTGGCAGAACTCTTCTTGGTGAACTTCTGCGTGTCCTGTGCCTAAGTCGGCGCGCTACGACCCCGGGAGCCGTTTTAGCCCGGAGCCGCGGGCTCCAGAGCTGGAGCGGGCCGGGGAGAAGGATGCTGAGGGACGCATGGAAAGCAGGCAGGCAGGCAGGGGCGGGGGAAGACTTACGGACATCCTGGCCCTGACACCGAAGGACAGCGGCGACGAGCAGCGTCAGCAGCACCAGCGTCTGGGGAGCCCCGAGGCGAATCACGGCTCACCGCGGGGCCTGGCTGAGCCGGGCCCGGGCGGAGCGCAGCGAAACGGCAGGAGCACGGCGCGGGTCCGGGTCTCTACCGCGCCCTCATGCAGGAGGCCCTTGGAGCAGGAGGGGGAAGCGGGAGACCCGGCAGCCCAGCAGCGCTCTGCGTCTTCTCCCCGCCGCGGCGCCCGTTATATGCGCCCGGCCCCTTTCGAGGCTGGCGAACTCGCCCAAACCGCGGGCCGCCCCCTGCCCCCCGCTGGGCTGTAACCTGAACCGCCCGCCCCCGGAGCCCGCCTGGGCCCTGCCAGTGCCCGCACCTGCCCAAGCCGGACCCCCCTCTCTGGGAGTCACGCTTCCCGCCCTCCACCCCTAGTGCGCCGAGTGGCCTGATCGGGCGGGGCGCAGAGATGGCCCCTGCCCCCCAAACCCGGGGCTGCGGCGCTGCCCCCCTCTGACCACAGGCGGGAAGGGTGGCCTCCGGCCCCTCCCCTCGGAGTTCTGCCGGAGTTGGAGGGGAGGGGGTGTTTGCAGAGGCGCAGGCCGAGAGCCCTAGACCAAGGACGGAAAAGACATGGGAGGGAGGAGGGAAAGCGGTAGAAAGGAGCAGCGGAGGGCGAGGGGGCACCGCGTCAGGCGTTTGGGAGTGGGGACAGGGAGGAGCCCACAGAGATTCAGAGTCCTAAATCTTGGAGACAGGCTAGCTGAGCCAGATCTGAAGGGTTACCCCGACCTATCTTTTAGCCCTTCCCTGCAGTACCTGGTCCCCAGACTCCCACCTGGACGTTCACAGCGACTGCCCTCCACCCCTCCCCCATCCAGCTCTGCGTTGAAGGCTTCCTCTGGAGCACAGGCCGAAGTTGGCCTGAGCCGACAGCCAGGAAAAGAGCTGGTGTGTTACTGCACAGAAGGAGACCTGTGTGAAGGTGTGGGGGGCAGGGGCAGGCCCTGGGAAGGGGACTGAAAGAGCCACAGAGGACGGAGGGAGCCGAGACTAAACGGTGCAAGCTGCCTGCTGTGGGGGGACTGTCTAGCTCCAGGCTCAGACGTGGTGTCTGCTCTTCCTGGCTGGGGTCCGGGAGTCCCCCGGGGAGTGGGCACTGCCGGCCGTCGTAGAGCAGCTTTGGCCAGGGACGGTTGGTCACTGCTGCGGCCCTGGCCAGGGATCGGGGAGGCCGATCCAGCTGGCGAGTTCTGTGAGCCGGGGAGAAGCGCCAGAATTTCCCAGTCGGCCCCCTAGCCCTCCGCTTGCCGCCTCACCTCACCTTCCCCGGTGAGCGCCCTCTCTCACCTTAGCCAAACTGCCTTCTTCCCAGGGCTTAGCTGGTCTCTTCTCTTGGTCTCCGGTGCCTCCTTTCATACCAGGGAGGAAACGTCCCCAAACAGACCTTCCTTTTGAGCGATATGGTCCCCCAAAGAACTATAGGCAAAATGAAACTCAGAATTTGGGGTCTGACTTAACCAGAACTTCTGCCCTCCTGGGCAGTTTTGTTTCTCTGGAGCTTTCCCCCTAGAAGCTGAGAGCACTTGAAAGAAGCTACTTCTGGGCCTTAGGCTTCCACCAGGGGTCCTGGGACCCCATCCCTAGCCTATCATGCTTTGACACTTGTCCTGGTAGAGGCTGGAGTTCCAAGTGCTCTGGTTGGAAAGGGAAAGAACTCATTGTTGAAGGAAATGCTTCTAGGCTTTGTCCAGTCTGGATGGAGATGGGGAAGAATTCAACCAGTTTCCAGCATCTCCCCTACCTTCCACGGGCCTTGTCTGAGTCTCCATGCTCCCATTCAGGGGCTTGCATTAAGCTCTGGGCTCTTCCTCAGGCCCAATCTCTGCTAGAAGAAAGCTGGTCTCTTGCCATCAGTGCCCCATGTCCTCTTTGGGGCTCAGAAGGTCCTATATTCTCTACCTGGAAGATAGAATGACCAAATTCCACACATTTATCAAGACCTCCTAGGTTAAAGCCCCTCTGAGAAGCCTTCTCTGATATCTCTAGAACACAACGTCTCCCTGGCTTTCTGAATCCCCCTGGCATTTATAGCCTAAGCTACATATGTTTTTGTGT
|
Task1_train_17517
|
With a mutation on Chromosome 12 in gene COL2A1 (collagen type II alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
|
Pathogenic; Multiple epiphyseal dysplasia, Beighton type
|
ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCTAATTAAGCAAGCGACCCTAATACCGGATGGAGAATTTGAGAATTATTTTAAAGCCACCCAGCTAATTCCATTGCGCACTAAGGCAGGGGTCAGTCAAGAAGACAGCTTTGTGGGCGTGTGCTTGTAAATGTAGTACAAAAATATAGTCAGTCTGAGTCCAGGCCACGTATAGTCACGCTGTATTCCTCAAATGCCCAGGAGCGCGCCTCCAGCTTAGCGCACTACCGGGTGACCCGGCCAGAGTCTCCTGCTCCCGGCTCCTCGCAGCTGCGCCGCAGGCTCCAGCCCTGCCCCCGCTGCGCTAATGACCGGAAAGCCCGCCTGAGCCCGCCGCCTTCCACGCTATCCCTGGAAACAGCCTGGTGGCAGGAGAGGGCCCACAGAGCCTCGAAGGCAGAGAACTTTTATTCCCCCCGCCGAAGAGTTTCCCTCTGCGATTGATTTACAATCTGTAACATACAAAGACAGGGCTGGAATCCCAGCCGTCGGAAACGTGCCCAAACACGTGGAAAAAAAAATCCTCTCTACCTAATACACTTTCCAGGCTTCGTTTGTCCTGAATATAATCCCAGACAGTGGACCTTACCAAAGGAGGGGTAGAAAGGTGCAGTCCGAACAGCATTTGGACCCGACTACAAGAGCCATCTCTAACTATACCGGTTGAAATAGTTGTAGCAACCGTAGCAATCGACCAGCCTGCTCCCCTTCCCTGACACACACATACACACACACACACGCACACACACACACACCACGCAGCCTGGCTCGGTGAGTTCCAGAATTTAGAAAAGTAACTCATTGTAGTACCTCGGGGCGGCGGGGAATGGGGTAAGACCGCGGGGAAGGGGGCGCTATTTTCGGGGGCATTTGAAAAGCACGGTCTGGTTGGAATGTTATCGTCTTTCAGATGGCCTCTCCTACTGGAAGTTTCTGTACCCTTTATCAGAAGAGAGGCGCAGGCGGACGGAGGGAAGTCGAGATGAGCGCTAGGGCTGCACCTTGCTCCAGGGCCAGCTGGGAGGGGGAGGGTACCCTAAAGAGGCGCTGAGGTCTCAGAGGGCCTATCGGAAGCCGTTCTTTGTGGCCTGGGATTTCAGCCCACCAGTGTCAGAGTGTTAGTCCCCTTTGTCTAACTCTGCTTTGAGCCCACCAGCCACCAAGCCTTGGACAGGCTGTGAAGTCAACCCTTTGGCGTTTGCTTGCTCCCTCGCTCGCGCTCTCTCTTTCCTACTTCACCTAAGTTCGATGAGTTGAGATCTGTTTTTGCTGAACTCGAAGTGCTTCGAAGAGGCGAGCTGTGTGCATGTGCGCCTAATTATCAAAGCTGGTGGAAAAGAGCCCATTTATATCTGTGCGCAAACTTCTCCGAGCCAACACTTTGCAAGTTCAGTATTCTAGCGCAACGTAGGGACCTGCAAATACTTGCAACTGCGATGGGCACCGAGGACCCTGGGACAGAGTCCTTGATTGGCAGAACTCTTCTTGGTGAACTTCTGCGTGTCCTGTGCCTAAGTCGGCGCGCTACGACCCCGGGAGCCGTTTTAGCCCGGAGCCGCGGGCTCCAGAGCTGGAGCGGGCCGGGGAGAAGGATGCTGAGGGACGCATGGAAAGCAGGCAGGCAGGCAGGGGCGGGGGAAGACTTACGGACATCCTGGCCCTGACACCGAAGGACAGCGGCGACGAGCAGCGTCAGCAGCACCAGCGTCTGGGGAGCCCCGAGGCGAATCATGGCTCACCGCGGGGCCTGGCTGAGCCGGGCCCGGGCGGAGCGCAGCGAAACGGCAGGAGCACGGCGCGGGTCCGGGTCTCTACCGCGCCCTCATGCAGGAGGCCCTTGGAGCAGGAGGGGGAAGCGGGAGACCCGGCAGCCCAGCAGCGCTCTGCGTCTTCTCCCCGCCGCGGCGCCCGTTATATGCGCCCGGCCCCTTTCGAGGCTGGCGAACTCGCCCAAACCGCGGGCCGCCCCCTGCCCCCCGCTGGGCTGTAACCTGAACCGCCCGCCCCCGGAGCCCGCCTGGGCCCTGCCAGTGCCCGCACCTGCCCAAGCCGGACCCCCCTCTCTGGGAGTCACGCTTCCCGCCCTCCACCCCTAGTGCGCCGAGTGGCCTGATCGGGCGGGGCGCAGAGATGGCCCCTGCCCCCCAAACCCGGGGCTGCGGCGCTGCCCCCCTCTGACCACAGGCGGGAAGGGTGGCCTCCGGCCCCTCCCCTCGGAGTTCTGCCGGAGTTGGAGGGGAGGGGGTGTTTGCAGAGGCGCAGGCCGAGAGCCCTAGACCAAGGACGGAAAAGACATGGGAGGGAGGAGGGAAAGCGGTAGAAAGGAGCAGCGGAGGGCGAGGGGGCACCGCGTCAGGCGTTTGGGAGTGGGGACAGGGAGGAGCCCACAGAGATTCAGAGTCCTAAATCTTGGAGACAGGCTAGCTGAGCCAGATCTGAAGGGTTACCCCGACCTATCTTTTAGCCCTTCCCTGCAGTACCTGGTCCCCAGACTCCCACCTGGACGTTCACAGCGACTGCCCTCCACCCCTCCCCCATCCAGCTCTGCGTTGAAGGCTTCCTCTGGAGCACAGGCCGAAGTTGGCCTGAGCCGACAGCCAGGAAAAGAGCTGGTGTGTTACTGCACAGAAGGAGACCTGTGTGAAGGTGTGGGGGGCAGGGGCAGGCCCTGGGAAGGGGACTGAAAGAGCCACAGAGGACGGAGGGAGCCGAGACTAAACGGTGCAAGCTGCCTGCTGTGGGGGGACTGTCTAGCTCCAGGCTCAGACGTGGTGTCTGCTCTTCCTGGCTGGGGTCCGGGAGTCCCCCGGGGAGTGGGCACTGCCGGCCGTCGTAGAGCAGCTTTGGCCAGGGACGGTTGGTCACTGCTGCGGCCCTGGCCAGGGATCGGGGAGGCCGATCCAGCTGGCGAGTTCTGTGAGCCGGGGAGAAGCGCCAGAATTTCCCAGTCGGCCCCCTAGCCCTCCGCTTGCCGCCTCACCTCACCTTCCCCGGTGAGCGCCCTCTCTCACCTTAGCCAAACTGCCTTCTTCCCAGGGCTTAGCTGGTCTCTTCTCTTGGTCTCCGGTGCCTCCTTTCATACCAGGGAGGAAACGTCCCCAAACAGACCTTCCTTTTGAGCGATATGGTCCCCCAAAGAACTATAGGCAAAATGAAACTCAGAATTTGGGGTCTGACTTAACCAGAACTTCTGCCCTCCTGGGCAGTTTTGTTTCTCTGGAGCTTTCCCCCTAGAAGCTGAGAGCACTTGAAAGAAGCTACTTCTGGGCCTTAGGCTTCCACCAGGGGTCCTGGGACCCCATCCCTAGCCTATCATGCTTTGACACTTGTCCTGGTAGAGGCTGGAGTTCCAAGTGCTCTGGTTGGAAAGGGAAAGAACTCATTGTTGAAGGAAATGCTTCTAGGCTTTGTCCAGTCTGGATGGAGATGGGGAAGAATTCAACCAGTTTCCAGCATCTCCCCTACCTTCCACGGGCCTTGTCTGAGTCTCCATGCTCCCATTCAGGGGCTTGCATTAAGCTCTGGGCTCTTCCTCAGGCCCAATCTCTGCTAGAAGAAAGCTGGTCTCTTGCCATCAGTGCCCCATGTCCTCTTTGGGGCTCAGAAGGTCCTATATTCTCTACCTGGAAGATAGAATGACCAAATTCCACACATTTATCAAGACCTCCTAGGTTAAAGCCCCTCTGAGAAGCCTTCTCTGATATCTCTAGAACACAACGTCTCCCTGGCTTTCTGAATCCCCCTGGCATTTATAGCCTAAGCTACATATGTTTTTGTGT
|
ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCTAATTAAGCAAGCGACCCTAATACCGGATGGAGAATTTGAGAATTATTTTAAAGCCACCCAGCTAATTCCATTGCGCACTAAGGCAGGGGTCAGTCAAGAAGACAGCTTTGTGGGCGTGTGCTTGTAAATGTAGTACAAAAATATAGTCAGTCTGAGTCCAGGCCACGTATAGTCACGCTGTATTCCTCAAATGCCCAGGAGCGCGCCTCCAGCTTAGCGCACTACCGGGTGACCCGGCCAGAGTCTCCTGCTCCCGGCTCCTCGCAGCTGCGCCGCAGGCTCCAGCCCTGCCCCCGCTGCGCTAATGACCGGAAAGCCCGCCTGAGCCCGCCGCCTTCCACGCTATCCCTGGAAACAGCCTGGTGGCAGGAGAGGGCCCACAGAGCCTCGAAGGCAGAGAACTTTTATTCCCCCCGCCGAAGAGTTTCCCTCTGCGATTGATTTACAATCTGTAACATACAAAGACAGGGCTGGAATCCCAGCCGTCGGAAACGTGCCCAAACACGTGGAAAAAAAAATCCTCTCTACCTAATACACTTTCCAGGCTTCGTTTGTCCTGAATATAATCCCAGACAGTGGACCTTACCAAAGGAGGGGTAGAAAGGTGCAGTCCGAACAGCATTTGGACCCGACTACAAGAGCCATCTCTAACTATACCGGTTGAAATAGTTGTAGCAACCGTAGCAATCGACCAGCCTGCTCCCCTTCCCTGACACACACATACACACACACACACGCACACACACACACACCACGCAGCCTGGCTCGGTGAGTTCCAGAATTTAGAAAAGTAACTCATTGTAGTACCTCGGGGCGGCGGGGAATGGGGTAAGACCGCGGGGAAGGGGGCGCTATTTTCGGGGGCATTTGAAAAGCACGGTCTGGTTGGAATGTTATCGTCTTTCAGATGGCCTCTCCTACTGGAAGTTTCTGTACCCTTTATCAGAAGAGAGGCGCAGGCGGACGGAGGGAAGTCGAGATGAGCGCTAGGGCTGCACCTTGCTCCAGGGCCAGCTGGGAGGGGGAGGGTACCCTAAAGAGGCGCTGAGGTCTCAGAGGGCCTATCGGAAGCCGTTCTTTGTGGCCTGGGATTTCAGCCCACCAGTGTCAGAGTGTTAGTCCCCTTTGTCTAACTCTGCTTTGAGCCCACCAGCCACCAAGCCTTGGACAGGCTGTGAAGTCAACCCTTTGGCGTTTGCTTGCTCCCTCGCTCGCGCTCTCTCTTTCCTACTTCACCTAAGTTCGATGAGTTGAGATCTGTTTTTGCTGAACTCGAAGTGCTTCGAAGAGGCGAGCTGTGTGCATGTGCGCCTAATTATCAAAGCTGGTGGAAAAGAGCCCATTTATATCTGTGCGCAAACTTCTCCGAGCCAACACTTTGCAAGTTCAGTATTCTAGCGCAACGTAGGGACCTGCAAATACTTGCAACTGCGATGGGCACCGAGGACCCTGGGACAGAGTCCTTGATTGGCAGAACTCTTCTTGGTGAACTTCTGCGTGTCCTGTGCCTAAGTCGGCGCGCTACGACCCCGGGAGCCGTTTTAGCCCGGAGCCGCGGGCTCCAGAGCTGGAGCGGGCCGGGGAGAAGGATGCTGAGGGACGCATGGAAAGCAGGCAGGCAGGCAGGGGCGGGGGAAGACTTACGGACATCCTGGCCCTGACACCGAAGGACAGCGGCGACGAGCAGCGTCAGCAGCACCAGCGTCTGGGGAGCCCCGAGGCGAATCACGGCTCACCGCGGGGCCTGGCTGAGCCGGGCCCGGGCGGAGCGCAGCGAAACGGCAGGAGCACGGCGCGGGTCCGGGTCTCTACCGCGCCCTCATGCAGGAGGCCCTTGGAGCAGGAGGGGGAAGCGGGAGACCCGGCAGCCCAGCAGCGCTCTGCGTCTTCTCCCCGCCGCGGCGCCCGTTATATGCGCCCGGCCCCTTTCGAGGCTGGCGAACTCGCCCAAACCGCGGGCCGCCCCCTGCCCCCCGCTGGGCTGTAACCTGAACCGCCCGCCCCCGGAGCCCGCCTGGGCCCTGCCAGTGCCCGCACCTGCCCAAGCCGGACCCCCCTCTCTGGGAGTCACGCTTCCCGCCCTCCACCCCTAGTGCGCCGAGTGGCCTGATCGGGCGGGGCGCAGAGATGGCCCCTGCCCCCCAAACCCGGGGCTGCGGCGCTGCCCCCCTCTGACCACAGGCGGGAAGGGTGGCCTCCGGCCCCTCCCCTCGGAGTTCTGCCGGAGTTGGAGGGGAGGGGGTGTTTGCAGAGGCGCAGGCCGAGAGCCCTAGACCAAGGACGGAAAAGACATGGGAGGGAGGAGGGAAAGCGGTAGAAAGGAGCAGCGGAGGGCGAGGGGGCACCGCGTCAGGCGTTTGGGAGTGGGGACAGGGAGGAGCCCACAGAGATTCAGAGTCCTAAATCTTGGAGACAGGCTAGCTGAGCCAGATCTGAAGGGTTACCCCGACCTATCTTTTAGCCCTTCCCTGCAGTACCTGGTCCCCAGACTCCCACCTGGACGTTCACAGCGACTGCCCTCCACCCCTCCCCCATCCAGCTCTGCGTTGAAGGCTTCCTCTGGAGCACAGGCCGAAGTTGGCCTGAGCCGACAGCCAGGAAAAGAGCTGGTGTGTTACTGCACAGAAGGAGACCTGTGTGAAGGTGTGGGGGGCAGGGGCAGGCCCTGGGAAGGGGACTGAAAGAGCCACAGAGGACGGAGGGAGCCGAGACTAAACGGTGCAAGCTGCCTGCTGTGGGGGGACTGTCTAGCTCCAGGCTCAGACGTGGTGTCTGCTCTTCCTGGCTGGGGTCCGGGAGTCCCCCGGGGAGTGGGCACTGCCGGCCGTCGTAGAGCAGCTTTGGCCAGGGACGGTTGGTCACTGCTGCGGCCCTGGCCAGGGATCGGGGAGGCCGATCCAGCTGGCGAGTTCTGTGAGCCGGGGAGAAGCGCCAGAATTTCCCAGTCGGCCCCCTAGCCCTCCGCTTGCCGCCTCACCTCACCTTCCCCGGTGAGCGCCCTCTCTCACCTTAGCCAAACTGCCTTCTTCCCAGGGCTTAGCTGGTCTCTTCTCTTGGTCTCCGGTGCCTCCTTTCATACCAGGGAGGAAACGTCCCCAAACAGACCTTCCTTTTGAGCGATATGGTCCCCCAAAGAACTATAGGCAAAATGAAACTCAGAATTTGGGGTCTGACTTAACCAGAACTTCTGCCCTCCTGGGCAGTTTTGTTTCTCTGGAGCTTTCCCCCTAGAAGCTGAGAGCACTTGAAAGAAGCTACTTCTGGGCCTTAGGCTTCCACCAGGGGTCCTGGGACCCCATCCCTAGCCTATCATGCTTTGACACTTGTCCTGGTAGAGGCTGGAGTTCCAAGTGCTCTGGTTGGAAAGGGAAAGAACTCATTGTTGAAGGAAATGCTTCTAGGCTTTGTCCAGTCTGGATGGAGATGGGGAAGAATTCAACCAGTTTCCAGCATCTCCCCTACCTTCCACGGGCCTTGTCTGAGTCTCCATGCTCCCATTCAGGGGCTTGCATTAAGCTCTGGGCTCTTCCTCAGGCCCAATCTCTGCTAGAAGAAAGCTGGTCTCTTGCCATCAGTGCCCCATGTCCTCTTTGGGGCTCAGAAGGTCCTATATTCTCTACCTGGAAGATAGAATGACCAAATTCCACACATTTATCAAGACCTCCTAGGTTAAAGCCCCTCTGAGAAGCCTTCTCTGATATCTCTAGAACACAACGTCTCCCTGGCTTTCTGAATCCCCCTGGCATTTATAGCCTAAGCTACATATGTTTTTGTGT
|
Task1_train_17518
|
A variant has been detected on Chromosome 12 in COL2A1 (collagen type II alpha 1 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease.
|
Pathogenic; Namaqualand hip dysplasia
|
ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCTAATTAAGCAAGCGACCCTAATACCGGATGGAGAATTTGAGAATTATTTTAAAGCCACCCAGCTAATTCCATTGCGCACTAAGGCAGGGGTCAGTCAAGAAGACAGCTTTGTGGGCGTGTGCTTGTAAATGTAGTACAAAAATATAGTCAGTCTGAGTCCAGGCCACGTATAGTCACGCTGTATTCCTCAAATGCCCAGGAGCGCGCCTCCAGCTTAGCGCACTACCGGGTGACCCGGCCAGAGTCTCCTGCTCCCGGCTCCTCGCAGCTGCGCCGCAGGCTCCAGCCCTGCCCCCGCTGCGCTAATGACCGGAAAGCCCGCCTGAGCCCGCCGCCTTCCACGCTATCCCTGGAAACAGCCTGGTGGCAGGAGAGGGCCCACAGAGCCTCGAAGGCAGAGAACTTTTATTCCCCCCGCCGAAGAGTTTCCCTCTGCGATTGATTTACAATCTGTAACATACAAAGACAGGGCTGGAATCCCAGCCGTCGGAAACGTGCCCAAACACGTGGAAAAAAAAATCCTCTCTACCTAATACACTTTCCAGGCTTCGTTTGTCCTGAATATAATCCCAGACAGTGGACCTTACCAAAGGAGGGGTAGAAAGGTGCAGTCCGAACAGCATTTGGACCCGACTACAAGAGCCATCTCTAACTATACCGGTTGAAATAGTTGTAGCAACCGTAGCAATCGACCAGCCTGCTCCCCTTCCCTGACACACACATACACACACACACACGCACACACACACACACCACGCAGCCTGGCTCGGTGAGTTCCAGAATTTAGAAAAGTAACTCATTGTAGTACCTCGGGGCGGCGGGGAATGGGGTAAGACCGCGGGGAAGGGGGCGCTATTTTCGGGGGCATTTGAAAAGCACGGTCTGGTTGGAATGTTATCGTCTTTCAGATGGCCTCTCCTACTGGAAGTTTCTGTACCCTTTATCAGAAGAGAGGCGCAGGCGGACGGAGGGAAGTCGAGATGAGCGCTAGGGCTGCACCTTGCTCCAGGGCCAGCTGGGAGGGGGAGGGTACCCTAAAGAGGCGCTGAGGTCTCAGAGGGCCTATCGGAAGCCGTTCTTTGTGGCCTGGGATTTCAGCCCACCAGTGTCAGAGTGTTAGTCCCCTTTGTCTAACTCTGCTTTGAGCCCACCAGCCACCAAGCCTTGGACAGGCTGTGAAGTCAACCCTTTGGCGTTTGCTTGCTCCCTCGCTCGCGCTCTCTCTTTCCTACTTCACCTAAGTTCGATGAGTTGAGATCTGTTTTTGCTGAACTCGAAGTGCTTCGAAGAGGCGAGCTGTGTGCATGTGCGCCTAATTATCAAAGCTGGTGGAAAAGAGCCCATTTATATCTGTGCGCAAACTTCTCCGAGCCAACACTTTGCAAGTTCAGTATTCTAGCGCAACGTAGGGACCTGCAAATACTTGCAACTGCGATGGGCACCGAGGACCCTGGGACAGAGTCCTTGATTGGCAGAACTCTTCTTGGTGAACTTCTGCGTGTCCTGTGCCTAAGTCGGCGCGCTACGACCCCGGGAGCCGTTTTAGCCCGGAGCCGCGGGCTCCAGAGCTGGAGCGGGCCGGGGAGAAGGATGCTGAGGGACGCATGGAAAGCAGGCAGGCAGGCAGGGGCGGGGGAAGACTTACGGACATCCTGGCCCTGACACCGAAGGACAGCGGCGACGAGCAGCGTCAGCAGCACCAGCGTCTGGGGAGCCCCGAGGCGAATCATGGCTCACCGCGGGGCCTGGCTGAGCCGGGCCCGGGCGGAGCGCAGCGAAACGGCAGGAGCACGGCGCGGGTCCGGGTCTCTACCGCGCCCTCATGCAGGAGGCCCTTGGAGCAGGAGGGGGAAGCGGGAGACCCGGCAGCCCAGCAGCGCTCTGCGTCTTCTCCCCGCCGCGGCGCCCGTTATATGCGCCCGGCCCCTTTCGAGGCTGGCGAACTCGCCCAAACCGCGGGCCGCCCCCTGCCCCCCGCTGGGCTGTAACCTGAACCGCCCGCCCCCGGAGCCCGCCTGGGCCCTGCCAGTGCCCGCACCTGCCCAAGCCGGACCCCCCTCTCTGGGAGTCACGCTTCCCGCCCTCCACCCCTAGTGCGCCGAGTGGCCTGATCGGGCGGGGCGCAGAGATGGCCCCTGCCCCCCAAACCCGGGGCTGCGGCGCTGCCCCCCTCTGACCACAGGCGGGAAGGGTGGCCTCCGGCCCCTCCCCTCGGAGTTCTGCCGGAGTTGGAGGGGAGGGGGTGTTTGCAGAGGCGCAGGCCGAGAGCCCTAGACCAAGGACGGAAAAGACATGGGAGGGAGGAGGGAAAGCGGTAGAAAGGAGCAGCGGAGGGCGAGGGGGCACCGCGTCAGGCGTTTGGGAGTGGGGACAGGGAGGAGCCCACAGAGATTCAGAGTCCTAAATCTTGGAGACAGGCTAGCTGAGCCAGATCTGAAGGGTTACCCCGACCTATCTTTTAGCCCTTCCCTGCAGTACCTGGTCCCCAGACTCCCACCTGGACGTTCACAGCGACTGCCCTCCACCCCTCCCCCATCCAGCTCTGCGTTGAAGGCTTCCTCTGGAGCACAGGCCGAAGTTGGCCTGAGCCGACAGCCAGGAAAAGAGCTGGTGTGTTACTGCACAGAAGGAGACCTGTGTGAAGGTGTGGGGGGCAGGGGCAGGCCCTGGGAAGGGGACTGAAAGAGCCACAGAGGACGGAGGGAGCCGAGACTAAACGGTGCAAGCTGCCTGCTGTGGGGGGACTGTCTAGCTCCAGGCTCAGACGTGGTGTCTGCTCTTCCTGGCTGGGGTCCGGGAGTCCCCCGGGGAGTGGGCACTGCCGGCCGTCGTAGAGCAGCTTTGGCCAGGGACGGTTGGTCACTGCTGCGGCCCTGGCCAGGGATCGGGGAGGCCGATCCAGCTGGCGAGTTCTGTGAGCCGGGGAGAAGCGCCAGAATTTCCCAGTCGGCCCCCTAGCCCTCCGCTTGCCGCCTCACCTCACCTTCCCCGGTGAGCGCCCTCTCTCACCTTAGCCAAACTGCCTTCTTCCCAGGGCTTAGCTGGTCTCTTCTCTTGGTCTCCGGTGCCTCCTTTCATACCAGGGAGGAAACGTCCCCAAACAGACCTTCCTTTTGAGCGATATGGTCCCCCAAAGAACTATAGGCAAAATGAAACTCAGAATTTGGGGTCTGACTTAACCAGAACTTCTGCCCTCCTGGGCAGTTTTGTTTCTCTGGAGCTTTCCCCCTAGAAGCTGAGAGCACTTGAAAGAAGCTACTTCTGGGCCTTAGGCTTCCACCAGGGGTCCTGGGACCCCATCCCTAGCCTATCATGCTTTGACACTTGTCCTGGTAGAGGCTGGAGTTCCAAGTGCTCTGGTTGGAAAGGGAAAGAACTCATTGTTGAAGGAAATGCTTCTAGGCTTTGTCCAGTCTGGATGGAGATGGGGAAGAATTCAACCAGTTTCCAGCATCTCCCCTACCTTCCACGGGCCTTGTCTGAGTCTCCATGCTCCCATTCAGGGGCTTGCATTAAGCTCTGGGCTCTTCCTCAGGCCCAATCTCTGCTAGAAGAAAGCTGGTCTCTTGCCATCAGTGCCCCATGTCCTCTTTGGGGCTCAGAAGGTCCTATATTCTCTACCTGGAAGATAGAATGACCAAATTCCACACATTTATCAAGACCTCCTAGGTTAAAGCCCCTCTGAGAAGCCTTCTCTGATATCTCTAGAACACAACGTCTCCCTGGCTTTCTGAATCCCCCTGGCATTTATAGCCTAAGCTACATATGTTTTTGTGT
|
ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCTAATTAAGCAAGCGACCCTAATACCGGATGGAGAATTTGAGAATTATTTTAAAGCCACCCAGCTAATTCCATTGCGCACTAAGGCAGGGGTCAGTCAAGAAGACAGCTTTGTGGGCGTGTGCTTGTAAATGTAGTACAAAAATATAGTCAGTCTGAGTCCAGGCCACGTATAGTCACGCTGTATTCCTCAAATGCCCAGGAGCGCGCCTCCAGCTTAGCGCACTACCGGGTGACCCGGCCAGAGTCTCCTGCTCCCGGCTCCTCGCAGCTGCGCCGCAGGCTCCAGCCCTGCCCCCGCTGCGCTAATGACCGGAAAGCCCGCCTGAGCCCGCCGCCTTCCACGCTATCCCTGGAAACAGCCTGGTGGCAGGAGAGGGCCCACAGAGCCTCGAAGGCAGAGAACTTTTATTCCCCCCGCCGAAGAGTTTCCCTCTGCGATTGATTTACAATCTGTAACATACAAAGACAGGGCTGGAATCCCAGCCGTCGGAAACGTGCCCAAACACGTGGAAAAAAAAATCCTCTCTACCTAATACACTTTCCAGGCTTCGTTTGTCCTGAATATAATCCCAGACAGTGGACCTTACCAAAGGAGGGGTAGAAAGGTGCAGTCCGAACAGCATTTGGACCCGACTACAAGAGCCATCTCTAACTATACCGGTTGAAATAGTTGTAGCAACCGTAGCAATCGACCAGCCTGCTCCCCTTCCCTGACACACACATACACACACACACACGCACACACACACACACCACGCAGCCTGGCTCGGTGAGTTCCAGAATTTAGAAAAGTAACTCATTGTAGTACCTCGGGGCGGCGGGGAATGGGGTAAGACCGCGGGGAAGGGGGCGCTATTTTCGGGGGCATTTGAAAAGCACGGTCTGGTTGGAATGTTATCGTCTTTCAGATGGCCTCTCCTACTGGAAGTTTCTGTACCCTTTATCAGAAGAGAGGCGCAGGCGGACGGAGGGAAGTCGAGATGAGCGCTAGGGCTGCACCTTGCTCCAGGGCCAGCTGGGAGGGGGAGGGTACCCTAAAGAGGCGCTGAGGTCTCAGAGGGCCTATCGGAAGCCGTTCTTTGTGGCCTGGGATTTCAGCCCACCAGTGTCAGAGTGTTAGTCCCCTTTGTCTAACTCTGCTTTGAGCCCACCAGCCACCAAGCCTTGGACAGGCTGTGAAGTCAACCCTTTGGCGTTTGCTTGCTCCCTCGCTCGCGCTCTCTCTTTCCTACTTCACCTAAGTTCGATGAGTTGAGATCTGTTTTTGCTGAACTCGAAGTGCTTCGAAGAGGCGAGCTGTGTGCATGTGCGCCTAATTATCAAAGCTGGTGGAAAAGAGCCCATTTATATCTGTGCGCAAACTTCTCCGAGCCAACACTTTGCAAGTTCAGTATTCTAGCGCAACGTAGGGACCTGCAAATACTTGCAACTGCGATGGGCACCGAGGACCCTGGGACAGAGTCCTTGATTGGCAGAACTCTTCTTGGTGAACTTCTGCGTGTCCTGTGCCTAAGTCGGCGCGCTACGACCCCGGGAGCCGTTTTAGCCCGGAGCCGCGGGCTCCAGAGCTGGAGCGGGCCGGGGAGAAGGATGCTGAGGGACGCATGGAAAGCAGGCAGGCAGGCAGGGGCGGGGGAAGACTTACGGACATCCTGGCCCTGACACCGAAGGACAGCGGCGACGAGCAGCGTCAGCAGCACCAGCGTCTGGGGAGCCCCGAGGCGAATCACGGCTCACCGCGGGGCCTGGCTGAGCCGGGCCCGGGCGGAGCGCAGCGAAACGGCAGGAGCACGGCGCGGGTCCGGGTCTCTACCGCGCCCTCATGCAGGAGGCCCTTGGAGCAGGAGGGGGAAGCGGGAGACCCGGCAGCCCAGCAGCGCTCTGCGTCTTCTCCCCGCCGCGGCGCCCGTTATATGCGCCCGGCCCCTTTCGAGGCTGGCGAACTCGCCCAAACCGCGGGCCGCCCCCTGCCCCCCGCTGGGCTGTAACCTGAACCGCCCGCCCCCGGAGCCCGCCTGGGCCCTGCCAGTGCCCGCACCTGCCCAAGCCGGACCCCCCTCTCTGGGAGTCACGCTTCCCGCCCTCCACCCCTAGTGCGCCGAGTGGCCTGATCGGGCGGGGCGCAGAGATGGCCCCTGCCCCCCAAACCCGGGGCTGCGGCGCTGCCCCCCTCTGACCACAGGCGGGAAGGGTGGCCTCCGGCCCCTCCCCTCGGAGTTCTGCCGGAGTTGGAGGGGAGGGGGTGTTTGCAGAGGCGCAGGCCGAGAGCCCTAGACCAAGGACGGAAAAGACATGGGAGGGAGGAGGGAAAGCGGTAGAAAGGAGCAGCGGAGGGCGAGGGGGCACCGCGTCAGGCGTTTGGGAGTGGGGACAGGGAGGAGCCCACAGAGATTCAGAGTCCTAAATCTTGGAGACAGGCTAGCTGAGCCAGATCTGAAGGGTTACCCCGACCTATCTTTTAGCCCTTCCCTGCAGTACCTGGTCCCCAGACTCCCACCTGGACGTTCACAGCGACTGCCCTCCACCCCTCCCCCATCCAGCTCTGCGTTGAAGGCTTCCTCTGGAGCACAGGCCGAAGTTGGCCTGAGCCGACAGCCAGGAAAAGAGCTGGTGTGTTACTGCACAGAAGGAGACCTGTGTGAAGGTGTGGGGGGCAGGGGCAGGCCCTGGGAAGGGGACTGAAAGAGCCACAGAGGACGGAGGGAGCCGAGACTAAACGGTGCAAGCTGCCTGCTGTGGGGGGACTGTCTAGCTCCAGGCTCAGACGTGGTGTCTGCTCTTCCTGGCTGGGGTCCGGGAGTCCCCCGGGGAGTGGGCACTGCCGGCCGTCGTAGAGCAGCTTTGGCCAGGGACGGTTGGTCACTGCTGCGGCCCTGGCCAGGGATCGGGGAGGCCGATCCAGCTGGCGAGTTCTGTGAGCCGGGGAGAAGCGCCAGAATTTCCCAGTCGGCCCCCTAGCCCTCCGCTTGCCGCCTCACCTCACCTTCCCCGGTGAGCGCCCTCTCTCACCTTAGCCAAACTGCCTTCTTCCCAGGGCTTAGCTGGTCTCTTCTCTTGGTCTCCGGTGCCTCCTTTCATACCAGGGAGGAAACGTCCCCAAACAGACCTTCCTTTTGAGCGATATGGTCCCCCAAAGAACTATAGGCAAAATGAAACTCAGAATTTGGGGTCTGACTTAACCAGAACTTCTGCCCTCCTGGGCAGTTTTGTTTCTCTGGAGCTTTCCCCCTAGAAGCTGAGAGCACTTGAAAGAAGCTACTTCTGGGCCTTAGGCTTCCACCAGGGGTCCTGGGACCCCATCCCTAGCCTATCATGCTTTGACACTTGTCCTGGTAGAGGCTGGAGTTCCAAGTGCTCTGGTTGGAAAGGGAAAGAACTCATTGTTGAAGGAAATGCTTCTAGGCTTTGTCCAGTCTGGATGGAGATGGGGAAGAATTCAACCAGTTTCCAGCATCTCCCCTACCTTCCACGGGCCTTGTCTGAGTCTCCATGCTCCCATTCAGGGGCTTGCATTAAGCTCTGGGCTCTTCCTCAGGCCCAATCTCTGCTAGAAGAAAGCTGGTCTCTTGCCATCAGTGCCCCATGTCCTCTTTGGGGCTCAGAAGGTCCTATATTCTCTACCTGGAAGATAGAATGACCAAATTCCACACATTTATCAAGACCTCCTAGGTTAAAGCCCCTCTGAGAAGCCTTCTCTGATATCTCTAGAACACAACGTCTCCCTGGCTTTCTGAATCCCCCTGGCATTTATAGCCTAAGCTACATATGTTTTTGTGT
|
Task1_train_17519
|
Here is a genetic alteration in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; Spondyloepiphyseal dysplasia congenita
|
ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCTAATTAAGCAAGCGACCCTAATACCGGATGGAGAATTTGAGAATTATTTTAAAGCCACCCAGCTAATTCCATTGCGCACTAAGGCAGGGGTCAGTCAAGAAGACAGCTTTGTGGGCGTGTGCTTGTAAATGTAGTACAAAAATATAGTCAGTCTGAGTCCAGGCCACGTATAGTCACGCTGTATTCCTCAAATGCCCAGGAGCGCGCCTCCAGCTTAGCGCACTACCGGGTGACCCGGCCAGAGTCTCCTGCTCCCGGCTCCTCGCAGCTGCGCCGCAGGCTCCAGCCCTGCCCCCGCTGCGCTAATGACCGGAAAGCCCGCCTGAGCCCGCCGCCTTCCACGCTATCCCTGGAAACAGCCTGGTGGCAGGAGAGGGCCCACAGAGCCTCGAAGGCAGAGAACTTTTATTCCCCCCGCCGAAGAGTTTCCCTCTGCGATTGATTTACAATCTGTAACATACAAAGACAGGGCTGGAATCCCAGCCGTCGGAAACGTGCCCAAACACGTGGAAAAAAAAATCCTCTCTACCTAATACACTTTCCAGGCTTCGTTTGTCCTGAATATAATCCCAGACAGTGGACCTTACCAAAGGAGGGGTAGAAAGGTGCAGTCCGAACAGCATTTGGACCCGACTACAAGAGCCATCTCTAACTATACCGGTTGAAATAGTTGTAGCAACCGTAGCAATCGACCAGCCTGCTCCCCTTCCCTGACACACACATACACACACACACACGCACACACACACACACCACGCAGCCTGGCTCGGTGAGTTCCAGAATTTAGAAAAGTAACTCATTGTAGTACCTCGGGGCGGCGGGGAATGGGGTAAGACCGCGGGGAAGGGGGCGCTATTTTCGGGGGCATTTGAAAAGCACGGTCTGGTTGGAATGTTATCGTCTTTCAGATGGCCTCTCCTACTGGAAGTTTCTGTACCCTTTATCAGAAGAGAGGCGCAGGCGGACGGAGGGAAGTCGAGATGAGCGCTAGGGCTGCACCTTGCTCCAGGGCCAGCTGGGAGGGGGAGGGTACCCTAAAGAGGCGCTGAGGTCTCAGAGGGCCTATCGGAAGCCGTTCTTTGTGGCCTGGGATTTCAGCCCACCAGTGTCAGAGTGTTAGTCCCCTTTGTCTAACTCTGCTTTGAGCCCACCAGCCACCAAGCCTTGGACAGGCTGTGAAGTCAACCCTTTGGCGTTTGCTTGCTCCCTCGCTCGCGCTCTCTCTTTCCTACTTCACCTAAGTTCGATGAGTTGAGATCTGTTTTTGCTGAACTCGAAGTGCTTCGAAGAGGCGAGCTGTGTGCATGTGCGCCTAATTATCAAAGCTGGTGGAAAAGAGCCCATTTATATCTGTGCGCAAACTTCTCCGAGCCAACACTTTGCAAGTTCAGTATTCTAGCGCAACGTAGGGACCTGCAAATACTTGCAACTGCGATGGGCACCGAGGACCCTGGGACAGAGTCCTTGATTGGCAGAACTCTTCTTGGTGAACTTCTGCGTGTCCTGTGCCTAAGTCGGCGCGCTACGACCCCGGGAGCCGTTTTAGCCCGGAGCCGCGGGCTCCAGAGCTGGAGCGGGCCGGGGAGAAGGATGCTGAGGGACGCATGGAAAGCAGGCAGGCAGGCAGGGGCGGGGGAAGACTTACGGACATCCTGGCCCTGACACCGAAGGACAGCGGCGACGAGCAGCGTCAGCAGCACCAGCGTCTGGGGAGCCCCGAGGCGAATCATGGCTCACCGCGGGGCCTGGCTGAGCCGGGCCCGGGCGGAGCGCAGCGAAACGGCAGGAGCACGGCGCGGGTCCGGGTCTCTACCGCGCCCTCATGCAGGAGGCCCTTGGAGCAGGAGGGGGAAGCGGGAGACCCGGCAGCCCAGCAGCGCTCTGCGTCTTCTCCCCGCCGCGGCGCCCGTTATATGCGCCCGGCCCCTTTCGAGGCTGGCGAACTCGCCCAAACCGCGGGCCGCCCCCTGCCCCCCGCTGGGCTGTAACCTGAACCGCCCGCCCCCGGAGCCCGCCTGGGCCCTGCCAGTGCCCGCACCTGCCCAAGCCGGACCCCCCTCTCTGGGAGTCACGCTTCCCGCCCTCCACCCCTAGTGCGCCGAGTGGCCTGATCGGGCGGGGCGCAGAGATGGCCCCTGCCCCCCAAACCCGGGGCTGCGGCGCTGCCCCCCTCTGACCACAGGCGGGAAGGGTGGCCTCCGGCCCCTCCCCTCGGAGTTCTGCCGGAGTTGGAGGGGAGGGGGTGTTTGCAGAGGCGCAGGCCGAGAGCCCTAGACCAAGGACGGAAAAGACATGGGAGGGAGGAGGGAAAGCGGTAGAAAGGAGCAGCGGAGGGCGAGGGGGCACCGCGTCAGGCGTTTGGGAGTGGGGACAGGGAGGAGCCCACAGAGATTCAGAGTCCTAAATCTTGGAGACAGGCTAGCTGAGCCAGATCTGAAGGGTTACCCCGACCTATCTTTTAGCCCTTCCCTGCAGTACCTGGTCCCCAGACTCCCACCTGGACGTTCACAGCGACTGCCCTCCACCCCTCCCCCATCCAGCTCTGCGTTGAAGGCTTCCTCTGGAGCACAGGCCGAAGTTGGCCTGAGCCGACAGCCAGGAAAAGAGCTGGTGTGTTACTGCACAGAAGGAGACCTGTGTGAAGGTGTGGGGGGCAGGGGCAGGCCCTGGGAAGGGGACTGAAAGAGCCACAGAGGACGGAGGGAGCCGAGACTAAACGGTGCAAGCTGCCTGCTGTGGGGGGACTGTCTAGCTCCAGGCTCAGACGTGGTGTCTGCTCTTCCTGGCTGGGGTCCGGGAGTCCCCCGGGGAGTGGGCACTGCCGGCCGTCGTAGAGCAGCTTTGGCCAGGGACGGTTGGTCACTGCTGCGGCCCTGGCCAGGGATCGGGGAGGCCGATCCAGCTGGCGAGTTCTGTGAGCCGGGGAGAAGCGCCAGAATTTCCCAGTCGGCCCCCTAGCCCTCCGCTTGCCGCCTCACCTCACCTTCCCCGGTGAGCGCCCTCTCTCACCTTAGCCAAACTGCCTTCTTCCCAGGGCTTAGCTGGTCTCTTCTCTTGGTCTCCGGTGCCTCCTTTCATACCAGGGAGGAAACGTCCCCAAACAGACCTTCCTTTTGAGCGATATGGTCCCCCAAAGAACTATAGGCAAAATGAAACTCAGAATTTGGGGTCTGACTTAACCAGAACTTCTGCCCTCCTGGGCAGTTTTGTTTCTCTGGAGCTTTCCCCCTAGAAGCTGAGAGCACTTGAAAGAAGCTACTTCTGGGCCTTAGGCTTCCACCAGGGGTCCTGGGACCCCATCCCTAGCCTATCATGCTTTGACACTTGTCCTGGTAGAGGCTGGAGTTCCAAGTGCTCTGGTTGGAAAGGGAAAGAACTCATTGTTGAAGGAAATGCTTCTAGGCTTTGTCCAGTCTGGATGGAGATGGGGAAGAATTCAACCAGTTTCCAGCATCTCCCCTACCTTCCACGGGCCTTGTCTGAGTCTCCATGCTCCCATTCAGGGGCTTGCATTAAGCTCTGGGCTCTTCCTCAGGCCCAATCTCTGCTAGAAGAAAGCTGGTCTCTTGCCATCAGTGCCCCATGTCCTCTTTGGGGCTCAGAAGGTCCTATATTCTCTACCTGGAAGATAGAATGACCAAATTCCACACATTTATCAAGACCTCCTAGGTTAAAGCCCCTCTGAGAAGCCTTCTCTGATATCTCTAGAACACAACGTCTCCCTGGCTTTCTGAATCCCCCTGGCATTTATAGCCTAAGCTACATATGTTTTTGTGT
|
ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCTAATTAAGCAAGCGACCCTAATACCGGATGGAGAATTTGAGAATTATTTTAAAGCCACCCAGCTAATTCCATTGCGCACTAAGGCAGGGGTCAGTCAAGAAGACAGCTTTGTGGGCGTGTGCTTGTAAATGTAGTACAAAAATATAGTCAGTCTGAGTCCAGGCCACGTATAGTCACGCTGTATTCCTCAAATGCCCAGGAGCGCGCCTCCAGCTTAGCGCACTACCGGGTGACCCGGCCAGAGTCTCCTGCTCCCGGCTCCTCGCAGCTGCGCCGCAGGCTCCAGCCCTGCCCCCGCTGCGCTAATGACCGGAAAGCCCGCCTGAGCCCGCCGCCTTCCACGCTATCCCTGGAAACAGCCTGGTGGCAGGAGAGGGCCCACAGAGCCTCGAAGGCAGAGAACTTTTATTCCCCCCGCCGAAGAGTTTCCCTCTGCGATTGATTTACAATCTGTAACATACAAAGACAGGGCTGGAATCCCAGCCGTCGGAAACGTGCCCAAACACGTGGAAAAAAAAATCCTCTCTACCTAATACACTTTCCAGGCTTCGTTTGTCCTGAATATAATCCCAGACAGTGGACCTTACCAAAGGAGGGGTAGAAAGGTGCAGTCCGAACAGCATTTGGACCCGACTACAAGAGCCATCTCTAACTATACCGGTTGAAATAGTTGTAGCAACCGTAGCAATCGACCAGCCTGCTCCCCTTCCCTGACACACACATACACACACACACACGCACACACACACACACCACGCAGCCTGGCTCGGTGAGTTCCAGAATTTAGAAAAGTAACTCATTGTAGTACCTCGGGGCGGCGGGGAATGGGGTAAGACCGCGGGGAAGGGGGCGCTATTTTCGGGGGCATTTGAAAAGCACGGTCTGGTTGGAATGTTATCGTCTTTCAGATGGCCTCTCCTACTGGAAGTTTCTGTACCCTTTATCAGAAGAGAGGCGCAGGCGGACGGAGGGAAGTCGAGATGAGCGCTAGGGCTGCACCTTGCTCCAGGGCCAGCTGGGAGGGGGAGGGTACCCTAAAGAGGCGCTGAGGTCTCAGAGGGCCTATCGGAAGCCGTTCTTTGTGGCCTGGGATTTCAGCCCACCAGTGTCAGAGTGTTAGTCCCCTTTGTCTAACTCTGCTTTGAGCCCACCAGCCACCAAGCCTTGGACAGGCTGTGAAGTCAACCCTTTGGCGTTTGCTTGCTCCCTCGCTCGCGCTCTCTCTTTCCTACTTCACCTAAGTTCGATGAGTTGAGATCTGTTTTTGCTGAACTCGAAGTGCTTCGAAGAGGCGAGCTGTGTGCATGTGCGCCTAATTATCAAAGCTGGTGGAAAAGAGCCCATTTATATCTGTGCGCAAACTTCTCCGAGCCAACACTTTGCAAGTTCAGTATTCTAGCGCAACGTAGGGACCTGCAAATACTTGCAACTGCGATGGGCACCGAGGACCCTGGGACAGAGTCCTTGATTGGCAGAACTCTTCTTGGTGAACTTCTGCGTGTCCTGTGCCTAAGTCGGCGCGCTACGACCCCGGGAGCCGTTTTAGCCCGGAGCCGCGGGCTCCAGAGCTGGAGCGGGCCGGGGAGAAGGATGCTGAGGGACGCATGGAAAGCAGGCAGGCAGGCAGGGGCGGGGGAAGACTTACGGACATCCTGGCCCTGACACCGAAGGACAGCGGCGACGAGCAGCGTCAGCAGCACCAGCGTCTGGGGAGCCCCGAGGCGAATCACGGCTCACCGCGGGGCCTGGCTGAGCCGGGCCCGGGCGGAGCGCAGCGAAACGGCAGGAGCACGGCGCGGGTCCGGGTCTCTACCGCGCCCTCATGCAGGAGGCCCTTGGAGCAGGAGGGGGAAGCGGGAGACCCGGCAGCCCAGCAGCGCTCTGCGTCTTCTCCCCGCCGCGGCGCCCGTTATATGCGCCCGGCCCCTTTCGAGGCTGGCGAACTCGCCCAAACCGCGGGCCGCCCCCTGCCCCCCGCTGGGCTGTAACCTGAACCGCCCGCCCCCGGAGCCCGCCTGGGCCCTGCCAGTGCCCGCACCTGCCCAAGCCGGACCCCCCTCTCTGGGAGTCACGCTTCCCGCCCTCCACCCCTAGTGCGCCGAGTGGCCTGATCGGGCGGGGCGCAGAGATGGCCCCTGCCCCCCAAACCCGGGGCTGCGGCGCTGCCCCCCTCTGACCACAGGCGGGAAGGGTGGCCTCCGGCCCCTCCCCTCGGAGTTCTGCCGGAGTTGGAGGGGAGGGGGTGTTTGCAGAGGCGCAGGCCGAGAGCCCTAGACCAAGGACGGAAAAGACATGGGAGGGAGGAGGGAAAGCGGTAGAAAGGAGCAGCGGAGGGCGAGGGGGCACCGCGTCAGGCGTTTGGGAGTGGGGACAGGGAGGAGCCCACAGAGATTCAGAGTCCTAAATCTTGGAGACAGGCTAGCTGAGCCAGATCTGAAGGGTTACCCCGACCTATCTTTTAGCCCTTCCCTGCAGTACCTGGTCCCCAGACTCCCACCTGGACGTTCACAGCGACTGCCCTCCACCCCTCCCCCATCCAGCTCTGCGTTGAAGGCTTCCTCTGGAGCACAGGCCGAAGTTGGCCTGAGCCGACAGCCAGGAAAAGAGCTGGTGTGTTACTGCACAGAAGGAGACCTGTGTGAAGGTGTGGGGGGCAGGGGCAGGCCCTGGGAAGGGGACTGAAAGAGCCACAGAGGACGGAGGGAGCCGAGACTAAACGGTGCAAGCTGCCTGCTGTGGGGGGACTGTCTAGCTCCAGGCTCAGACGTGGTGTCTGCTCTTCCTGGCTGGGGTCCGGGAGTCCCCCGGGGAGTGGGCACTGCCGGCCGTCGTAGAGCAGCTTTGGCCAGGGACGGTTGGTCACTGCTGCGGCCCTGGCCAGGGATCGGGGAGGCCGATCCAGCTGGCGAGTTCTGTGAGCCGGGGAGAAGCGCCAGAATTTCCCAGTCGGCCCCCTAGCCCTCCGCTTGCCGCCTCACCTCACCTTCCCCGGTGAGCGCCCTCTCTCACCTTAGCCAAACTGCCTTCTTCCCAGGGCTTAGCTGGTCTCTTCTCTTGGTCTCCGGTGCCTCCTTTCATACCAGGGAGGAAACGTCCCCAAACAGACCTTCCTTTTGAGCGATATGGTCCCCCAAAGAACTATAGGCAAAATGAAACTCAGAATTTGGGGTCTGACTTAACCAGAACTTCTGCCCTCCTGGGCAGTTTTGTTTCTCTGGAGCTTTCCCCCTAGAAGCTGAGAGCACTTGAAAGAAGCTACTTCTGGGCCTTAGGCTTCCACCAGGGGTCCTGGGACCCCATCCCTAGCCTATCATGCTTTGACACTTGTCCTGGTAGAGGCTGGAGTTCCAAGTGCTCTGGTTGGAAAGGGAAAGAACTCATTGTTGAAGGAAATGCTTCTAGGCTTTGTCCAGTCTGGATGGAGATGGGGAAGAATTCAACCAGTTTCCAGCATCTCCCCTACCTTCCACGGGCCTTGTCTGAGTCTCCATGCTCCCATTCAGGGGCTTGCATTAAGCTCTGGGCTCTTCCTCAGGCCCAATCTCTGCTAGAAGAAAGCTGGTCTCTTGCCATCAGTGCCCCATGTCCTCTTTGGGGCTCAGAAGGTCCTATATTCTCTACCTGGAAGATAGAATGACCAAATTCCACACATTTATCAAGACCTCCTAGGTTAAAGCCCCTCTGAGAAGCCTTCTCTGATATCTCTAGAACACAACGTCTCCCTGGCTTTCTGAATCCCCCTGGCATTTATAGCCTAAGCTACATATGTTTTTGTGT
|
Task1_train_17520
|
A sequence alteration has been identified in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it disease-inducing or harmless?
|
Pathogenic; Stickler syndrome, type I, nonsyndromic ocular
|
ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCTAATTAAGCAAGCGACCCTAATACCGGATGGAGAATTTGAGAATTATTTTAAAGCCACCCAGCTAATTCCATTGCGCACTAAGGCAGGGGTCAGTCAAGAAGACAGCTTTGTGGGCGTGTGCTTGTAAATGTAGTACAAAAATATAGTCAGTCTGAGTCCAGGCCACGTATAGTCACGCTGTATTCCTCAAATGCCCAGGAGCGCGCCTCCAGCTTAGCGCACTACCGGGTGACCCGGCCAGAGTCTCCTGCTCCCGGCTCCTCGCAGCTGCGCCGCAGGCTCCAGCCCTGCCCCCGCTGCGCTAATGACCGGAAAGCCCGCCTGAGCCCGCCGCCTTCCACGCTATCCCTGGAAACAGCCTGGTGGCAGGAGAGGGCCCACAGAGCCTCGAAGGCAGAGAACTTTTATTCCCCCCGCCGAAGAGTTTCCCTCTGCGATTGATTTACAATCTGTAACATACAAAGACAGGGCTGGAATCCCAGCCGTCGGAAACGTGCCCAAACACGTGGAAAAAAAAATCCTCTCTACCTAATACACTTTCCAGGCTTCGTTTGTCCTGAATATAATCCCAGACAGTGGACCTTACCAAAGGAGGGGTAGAAAGGTGCAGTCCGAACAGCATTTGGACCCGACTACAAGAGCCATCTCTAACTATACCGGTTGAAATAGTTGTAGCAACCGTAGCAATCGACCAGCCTGCTCCCCTTCCCTGACACACACATACACACACACACACGCACACACACACACACCACGCAGCCTGGCTCGGTGAGTTCCAGAATTTAGAAAAGTAACTCATTGTAGTACCTCGGGGCGGCGGGGAATGGGGTAAGACCGCGGGGAAGGGGGCGCTATTTTCGGGGGCATTTGAAAAGCACGGTCTGGTTGGAATGTTATCGTCTTTCAGATGGCCTCTCCTACTGGAAGTTTCTGTACCCTTTATCAGAAGAGAGGCGCAGGCGGACGGAGGGAAGTCGAGATGAGCGCTAGGGCTGCACCTTGCTCCAGGGCCAGCTGGGAGGGGGAGGGTACCCTAAAGAGGCGCTGAGGTCTCAGAGGGCCTATCGGAAGCCGTTCTTTGTGGCCTGGGATTTCAGCCCACCAGTGTCAGAGTGTTAGTCCCCTTTGTCTAACTCTGCTTTGAGCCCACCAGCCACCAAGCCTTGGACAGGCTGTGAAGTCAACCCTTTGGCGTTTGCTTGCTCCCTCGCTCGCGCTCTCTCTTTCCTACTTCACCTAAGTTCGATGAGTTGAGATCTGTTTTTGCTGAACTCGAAGTGCTTCGAAGAGGCGAGCTGTGTGCATGTGCGCCTAATTATCAAAGCTGGTGGAAAAGAGCCCATTTATATCTGTGCGCAAACTTCTCCGAGCCAACACTTTGCAAGTTCAGTATTCTAGCGCAACGTAGGGACCTGCAAATACTTGCAACTGCGATGGGCACCGAGGACCCTGGGACAGAGTCCTTGATTGGCAGAACTCTTCTTGGTGAACTTCTGCGTGTCCTGTGCCTAAGTCGGCGCGCTACGACCCCGGGAGCCGTTTTAGCCCGGAGCCGCGGGCTCCAGAGCTGGAGCGGGCCGGGGAGAAGGATGCTGAGGGACGCATGGAAAGCAGGCAGGCAGGCAGGGGCGGGGGAAGACTTACGGACATCCTGGCCCTGACACCGAAGGACAGCGGCGACGAGCAGCGTCAGCAGCACCAGCGTCTGGGGAGCCCCGAGGCGAATCATGGCTCACCGCGGGGCCTGGCTGAGCCGGGCCCGGGCGGAGCGCAGCGAAACGGCAGGAGCACGGCGCGGGTCCGGGTCTCTACCGCGCCCTCATGCAGGAGGCCCTTGGAGCAGGAGGGGGAAGCGGGAGACCCGGCAGCCCAGCAGCGCTCTGCGTCTTCTCCCCGCCGCGGCGCCCGTTATATGCGCCCGGCCCCTTTCGAGGCTGGCGAACTCGCCCAAACCGCGGGCCGCCCCCTGCCCCCCGCTGGGCTGTAACCTGAACCGCCCGCCCCCGGAGCCCGCCTGGGCCCTGCCAGTGCCCGCACCTGCCCAAGCCGGACCCCCCTCTCTGGGAGTCACGCTTCCCGCCCTCCACCCCTAGTGCGCCGAGTGGCCTGATCGGGCGGGGCGCAGAGATGGCCCCTGCCCCCCAAACCCGGGGCTGCGGCGCTGCCCCCCTCTGACCACAGGCGGGAAGGGTGGCCTCCGGCCCCTCCCCTCGGAGTTCTGCCGGAGTTGGAGGGGAGGGGGTGTTTGCAGAGGCGCAGGCCGAGAGCCCTAGACCAAGGACGGAAAAGACATGGGAGGGAGGAGGGAAAGCGGTAGAAAGGAGCAGCGGAGGGCGAGGGGGCACCGCGTCAGGCGTTTGGGAGTGGGGACAGGGAGGAGCCCACAGAGATTCAGAGTCCTAAATCTTGGAGACAGGCTAGCTGAGCCAGATCTGAAGGGTTACCCCGACCTATCTTTTAGCCCTTCCCTGCAGTACCTGGTCCCCAGACTCCCACCTGGACGTTCACAGCGACTGCCCTCCACCCCTCCCCCATCCAGCTCTGCGTTGAAGGCTTCCTCTGGAGCACAGGCCGAAGTTGGCCTGAGCCGACAGCCAGGAAAAGAGCTGGTGTGTTACTGCACAGAAGGAGACCTGTGTGAAGGTGTGGGGGGCAGGGGCAGGCCCTGGGAAGGGGACTGAAAGAGCCACAGAGGACGGAGGGAGCCGAGACTAAACGGTGCAAGCTGCCTGCTGTGGGGGGACTGTCTAGCTCCAGGCTCAGACGTGGTGTCTGCTCTTCCTGGCTGGGGTCCGGGAGTCCCCCGGGGAGTGGGCACTGCCGGCCGTCGTAGAGCAGCTTTGGCCAGGGACGGTTGGTCACTGCTGCGGCCCTGGCCAGGGATCGGGGAGGCCGATCCAGCTGGCGAGTTCTGTGAGCCGGGGAGAAGCGCCAGAATTTCCCAGTCGGCCCCCTAGCCCTCCGCTTGCCGCCTCACCTCACCTTCCCCGGTGAGCGCCCTCTCTCACCTTAGCCAAACTGCCTTCTTCCCAGGGCTTAGCTGGTCTCTTCTCTTGGTCTCCGGTGCCTCCTTTCATACCAGGGAGGAAACGTCCCCAAACAGACCTTCCTTTTGAGCGATATGGTCCCCCAAAGAACTATAGGCAAAATGAAACTCAGAATTTGGGGTCTGACTTAACCAGAACTTCTGCCCTCCTGGGCAGTTTTGTTTCTCTGGAGCTTTCCCCCTAGAAGCTGAGAGCACTTGAAAGAAGCTACTTCTGGGCCTTAGGCTTCCACCAGGGGTCCTGGGACCCCATCCCTAGCCTATCATGCTTTGACACTTGTCCTGGTAGAGGCTGGAGTTCCAAGTGCTCTGGTTGGAAAGGGAAAGAACTCATTGTTGAAGGAAATGCTTCTAGGCTTTGTCCAGTCTGGATGGAGATGGGGAAGAATTCAACCAGTTTCCAGCATCTCCCCTACCTTCCACGGGCCTTGTCTGAGTCTCCATGCTCCCATTCAGGGGCTTGCATTAAGCTCTGGGCTCTTCCTCAGGCCCAATCTCTGCTAGAAGAAAGCTGGTCTCTTGCCATCAGTGCCCCATGTCCTCTTTGGGGCTCAGAAGGTCCTATATTCTCTACCTGGAAGATAGAATGACCAAATTCCACACATTTATCAAGACCTCCTAGGTTAAAGCCCCTCTGAGAAGCCTTCTCTGATATCTCTAGAACACAACGTCTCCCTGGCTTTCTGAATCCCCCTGGCATTTATAGCCTAAGCTACATATGTTTTTGTGT
|
ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCTAATTAAGCAAGCGACCCTAATACCGGATGGAGAATTTGAGAATTATTTTAAAGCCACCCAGCTAATTCCATTGCGCACTAAGGCAGGGGTCAGTCAAGAAGACAGCTTTGTGGGCGTGTGCTTGTAAATGTAGTACAAAAATATAGTCAGTCTGAGTCCAGGCCACGTATAGTCACGCTGTATTCCTCAAATGCCCAGGAGCGCGCCTCCAGCTTAGCGCACTACCGGGTGACCCGGCCAGAGTCTCCTGCTCCCGGCTCCTCGCAGCTGCGCCGCAGGCTCCAGCCCTGCCCCCGCTGCGCTAATGACCGGAAAGCCCGCCTGAGCCCGCCGCCTTCCACGCTATCCCTGGAAACAGCCTGGTGGCAGGAGAGGGCCCACAGAGCCTCGAAGGCAGAGAACTTTTATTCCCCCCGCCGAAGAGTTTCCCTCTGCGATTGATTTACAATCTGTAACATACAAAGACAGGGCTGGAATCCCAGCCGTCGGAAACGTGCCCAAACACGTGGAAAAAAAAATCCTCTCTACCTAATACACTTTCCAGGCTTCGTTTGTCCTGAATATAATCCCAGACAGTGGACCTTACCAAAGGAGGGGTAGAAAGGTGCAGTCCGAACAGCATTTGGACCCGACTACAAGAGCCATCTCTAACTATACCGGTTGAAATAGTTGTAGCAACCGTAGCAATCGACCAGCCTGCTCCCCTTCCCTGACACACACATACACACACACACACGCACACACACACACACCACGCAGCCTGGCTCGGTGAGTTCCAGAATTTAGAAAAGTAACTCATTGTAGTACCTCGGGGCGGCGGGGAATGGGGTAAGACCGCGGGGAAGGGGGCGCTATTTTCGGGGGCATTTGAAAAGCACGGTCTGGTTGGAATGTTATCGTCTTTCAGATGGCCTCTCCTACTGGAAGTTTCTGTACCCTTTATCAGAAGAGAGGCGCAGGCGGACGGAGGGAAGTCGAGATGAGCGCTAGGGCTGCACCTTGCTCCAGGGCCAGCTGGGAGGGGGAGGGTACCCTAAAGAGGCGCTGAGGTCTCAGAGGGCCTATCGGAAGCCGTTCTTTGTGGCCTGGGATTTCAGCCCACCAGTGTCAGAGTGTTAGTCCCCTTTGTCTAACTCTGCTTTGAGCCCACCAGCCACCAAGCCTTGGACAGGCTGTGAAGTCAACCCTTTGGCGTTTGCTTGCTCCCTCGCTCGCGCTCTCTCTTTCCTACTTCACCTAAGTTCGATGAGTTGAGATCTGTTTTTGCTGAACTCGAAGTGCTTCGAAGAGGCGAGCTGTGTGCATGTGCGCCTAATTATCAAAGCTGGTGGAAAAGAGCCCATTTATATCTGTGCGCAAACTTCTCCGAGCCAACACTTTGCAAGTTCAGTATTCTAGCGCAACGTAGGGACCTGCAAATACTTGCAACTGCGATGGGCACCGAGGACCCTGGGACAGAGTCCTTGATTGGCAGAACTCTTCTTGGTGAACTTCTGCGTGTCCTGTGCCTAAGTCGGCGCGCTACGACCCCGGGAGCCGTTTTAGCCCGGAGCCGCGGGCTCCAGAGCTGGAGCGGGCCGGGGAGAAGGATGCTGAGGGACGCATGGAAAGCAGGCAGGCAGGCAGGGGCGGGGGAAGACTTACGGACATCCTGGCCCTGACACCGAAGGACAGCGGCGACGAGCAGCGTCAGCAGCACCAGCGTCTGGGGAGCCCCGAGGCGAATCACGGCTCACCGCGGGGCCTGGCTGAGCCGGGCCCGGGCGGAGCGCAGCGAAACGGCAGGAGCACGGCGCGGGTCCGGGTCTCTACCGCGCCCTCATGCAGGAGGCCCTTGGAGCAGGAGGGGGAAGCGGGAGACCCGGCAGCCCAGCAGCGCTCTGCGTCTTCTCCCCGCCGCGGCGCCCGTTATATGCGCCCGGCCCCTTTCGAGGCTGGCGAACTCGCCCAAACCGCGGGCCGCCCCCTGCCCCCCGCTGGGCTGTAACCTGAACCGCCCGCCCCCGGAGCCCGCCTGGGCCCTGCCAGTGCCCGCACCTGCCCAAGCCGGACCCCCCTCTCTGGGAGTCACGCTTCCCGCCCTCCACCCCTAGTGCGCCGAGTGGCCTGATCGGGCGGGGCGCAGAGATGGCCCCTGCCCCCCAAACCCGGGGCTGCGGCGCTGCCCCCCTCTGACCACAGGCGGGAAGGGTGGCCTCCGGCCCCTCCCCTCGGAGTTCTGCCGGAGTTGGAGGGGAGGGGGTGTTTGCAGAGGCGCAGGCCGAGAGCCCTAGACCAAGGACGGAAAAGACATGGGAGGGAGGAGGGAAAGCGGTAGAAAGGAGCAGCGGAGGGCGAGGGGGCACCGCGTCAGGCGTTTGGGAGTGGGGACAGGGAGGAGCCCACAGAGATTCAGAGTCCTAAATCTTGGAGACAGGCTAGCTGAGCCAGATCTGAAGGGTTACCCCGACCTATCTTTTAGCCCTTCCCTGCAGTACCTGGTCCCCAGACTCCCACCTGGACGTTCACAGCGACTGCCCTCCACCCCTCCCCCATCCAGCTCTGCGTTGAAGGCTTCCTCTGGAGCACAGGCCGAAGTTGGCCTGAGCCGACAGCCAGGAAAAGAGCTGGTGTGTTACTGCACAGAAGGAGACCTGTGTGAAGGTGTGGGGGGCAGGGGCAGGCCCTGGGAAGGGGACTGAAAGAGCCACAGAGGACGGAGGGAGCCGAGACTAAACGGTGCAAGCTGCCTGCTGTGGGGGGACTGTCTAGCTCCAGGCTCAGACGTGGTGTCTGCTCTTCCTGGCTGGGGTCCGGGAGTCCCCCGGGGAGTGGGCACTGCCGGCCGTCGTAGAGCAGCTTTGGCCAGGGACGGTTGGTCACTGCTGCGGCCCTGGCCAGGGATCGGGGAGGCCGATCCAGCTGGCGAGTTCTGTGAGCCGGGGAGAAGCGCCAGAATTTCCCAGTCGGCCCCCTAGCCCTCCGCTTGCCGCCTCACCTCACCTTCCCCGGTGAGCGCCCTCTCTCACCTTAGCCAAACTGCCTTCTTCCCAGGGCTTAGCTGGTCTCTTCTCTTGGTCTCCGGTGCCTCCTTTCATACCAGGGAGGAAACGTCCCCAAACAGACCTTCCTTTTGAGCGATATGGTCCCCCAAAGAACTATAGGCAAAATGAAACTCAGAATTTGGGGTCTGACTTAACCAGAACTTCTGCCCTCCTGGGCAGTTTTGTTTCTCTGGAGCTTTCCCCCTAGAAGCTGAGAGCACTTGAAAGAAGCTACTTCTGGGCCTTAGGCTTCCACCAGGGGTCCTGGGACCCCATCCCTAGCCTATCATGCTTTGACACTTGTCCTGGTAGAGGCTGGAGTTCCAAGTGCTCTGGTTGGAAAGGGAAAGAACTCATTGTTGAAGGAAATGCTTCTAGGCTTTGTCCAGTCTGGATGGAGATGGGGAAGAATTCAACCAGTTTCCAGCATCTCCCCTACCTTCCACGGGCCTTGTCTGAGTCTCCATGCTCCCATTCAGGGGCTTGCATTAAGCTCTGGGCTCTTCCTCAGGCCCAATCTCTGCTAGAAGAAAGCTGGTCTCTTGCCATCAGTGCCCCATGTCCTCTTTGGGGCTCAGAAGGTCCTATATTCTCTACCTGGAAGATAGAATGACCAAATTCCACACATTTATCAAGACCTCCTAGGTTAAAGCCCCTCTGAGAAGCCTTCTCTGATATCTCTAGAACACAACGTCTCCCTGGCTTTCTGAATCCCCCTGGCATTTATAGCCTAAGCTACATATGTTTTTGTGT
|
Task1_train_17521
|
A mutation on Chromosome 12 affecting COL2A1 (collagen type II alpha 1 chain) has been found. Is it harmful or harmless? What disease, if any, does it cause?
|
Pathogenic; Spondyloepimetaphyseal dysplasia, Strudwick type
|
ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCTAATTAAGCAAGCGACCCTAATACCGGATGGAGAATTTGAGAATTATTTTAAAGCCACCCAGCTAATTCCATTGCGCACTAAGGCAGGGGTCAGTCAAGAAGACAGCTTTGTGGGCGTGTGCTTGTAAATGTAGTACAAAAATATAGTCAGTCTGAGTCCAGGCCACGTATAGTCACGCTGTATTCCTCAAATGCCCAGGAGCGCGCCTCCAGCTTAGCGCACTACCGGGTGACCCGGCCAGAGTCTCCTGCTCCCGGCTCCTCGCAGCTGCGCCGCAGGCTCCAGCCCTGCCCCCGCTGCGCTAATGACCGGAAAGCCCGCCTGAGCCCGCCGCCTTCCACGCTATCCCTGGAAACAGCCTGGTGGCAGGAGAGGGCCCACAGAGCCTCGAAGGCAGAGAACTTTTATTCCCCCCGCCGAAGAGTTTCCCTCTGCGATTGATTTACAATCTGTAACATACAAAGACAGGGCTGGAATCCCAGCCGTCGGAAACGTGCCCAAACACGTGGAAAAAAAAATCCTCTCTACCTAATACACTTTCCAGGCTTCGTTTGTCCTGAATATAATCCCAGACAGTGGACCTTACCAAAGGAGGGGTAGAAAGGTGCAGTCCGAACAGCATTTGGACCCGACTACAAGAGCCATCTCTAACTATACCGGTTGAAATAGTTGTAGCAACCGTAGCAATCGACCAGCCTGCTCCCCTTCCCTGACACACACATACACACACACACACGCACACACACACACACCACGCAGCCTGGCTCGGTGAGTTCCAGAATTTAGAAAAGTAACTCATTGTAGTACCTCGGGGCGGCGGGGAATGGGGTAAGACCGCGGGGAAGGGGGCGCTATTTTCGGGGGCATTTGAAAAGCACGGTCTGGTTGGAATGTTATCGTCTTTCAGATGGCCTCTCCTACTGGAAGTTTCTGTACCCTTTATCAGAAGAGAGGCGCAGGCGGACGGAGGGAAGTCGAGATGAGCGCTAGGGCTGCACCTTGCTCCAGGGCCAGCTGGGAGGGGGAGGGTACCCTAAAGAGGCGCTGAGGTCTCAGAGGGCCTATCGGAAGCCGTTCTTTGTGGCCTGGGATTTCAGCCCACCAGTGTCAGAGTGTTAGTCCCCTTTGTCTAACTCTGCTTTGAGCCCACCAGCCACCAAGCCTTGGACAGGCTGTGAAGTCAACCCTTTGGCGTTTGCTTGCTCCCTCGCTCGCGCTCTCTCTTTCCTACTTCACCTAAGTTCGATGAGTTGAGATCTGTTTTTGCTGAACTCGAAGTGCTTCGAAGAGGCGAGCTGTGTGCATGTGCGCCTAATTATCAAAGCTGGTGGAAAAGAGCCCATTTATATCTGTGCGCAAACTTCTCCGAGCCAACACTTTGCAAGTTCAGTATTCTAGCGCAACGTAGGGACCTGCAAATACTTGCAACTGCGATGGGCACCGAGGACCCTGGGACAGAGTCCTTGATTGGCAGAACTCTTCTTGGTGAACTTCTGCGTGTCCTGTGCCTAAGTCGGCGCGCTACGACCCCGGGAGCCGTTTTAGCCCGGAGCCGCGGGCTCCAGAGCTGGAGCGGGCCGGGGAGAAGGATGCTGAGGGACGCATGGAAAGCAGGCAGGCAGGCAGGGGCGGGGGAAGACTTACGGACATCCTGGCCCTGACACCGAAGGACAGCGGCGACGAGCAGCGTCAGCAGCACCAGCGTCTGGGGAGCCCCGAGGCGAATCATGGCTCACCGCGGGGCCTGGCTGAGCCGGGCCCGGGCGGAGCGCAGCGAAACGGCAGGAGCACGGCGCGGGTCCGGGTCTCTACCGCGCCCTCATGCAGGAGGCCCTTGGAGCAGGAGGGGGAAGCGGGAGACCCGGCAGCCCAGCAGCGCTCTGCGTCTTCTCCCCGCCGCGGCGCCCGTTATATGCGCCCGGCCCCTTTCGAGGCTGGCGAACTCGCCCAAACCGCGGGCCGCCCCCTGCCCCCCGCTGGGCTGTAACCTGAACCGCCCGCCCCCGGAGCCCGCCTGGGCCCTGCCAGTGCCCGCACCTGCCCAAGCCGGACCCCCCTCTCTGGGAGTCACGCTTCCCGCCCTCCACCCCTAGTGCGCCGAGTGGCCTGATCGGGCGGGGCGCAGAGATGGCCCCTGCCCCCCAAACCCGGGGCTGCGGCGCTGCCCCCCTCTGACCACAGGCGGGAAGGGTGGCCTCCGGCCCCTCCCCTCGGAGTTCTGCCGGAGTTGGAGGGGAGGGGGTGTTTGCAGAGGCGCAGGCCGAGAGCCCTAGACCAAGGACGGAAAAGACATGGGAGGGAGGAGGGAAAGCGGTAGAAAGGAGCAGCGGAGGGCGAGGGGGCACCGCGTCAGGCGTTTGGGAGTGGGGACAGGGAGGAGCCCACAGAGATTCAGAGTCCTAAATCTTGGAGACAGGCTAGCTGAGCCAGATCTGAAGGGTTACCCCGACCTATCTTTTAGCCCTTCCCTGCAGTACCTGGTCCCCAGACTCCCACCTGGACGTTCACAGCGACTGCCCTCCACCCCTCCCCCATCCAGCTCTGCGTTGAAGGCTTCCTCTGGAGCACAGGCCGAAGTTGGCCTGAGCCGACAGCCAGGAAAAGAGCTGGTGTGTTACTGCACAGAAGGAGACCTGTGTGAAGGTGTGGGGGGCAGGGGCAGGCCCTGGGAAGGGGACTGAAAGAGCCACAGAGGACGGAGGGAGCCGAGACTAAACGGTGCAAGCTGCCTGCTGTGGGGGGACTGTCTAGCTCCAGGCTCAGACGTGGTGTCTGCTCTTCCTGGCTGGGGTCCGGGAGTCCCCCGGGGAGTGGGCACTGCCGGCCGTCGTAGAGCAGCTTTGGCCAGGGACGGTTGGTCACTGCTGCGGCCCTGGCCAGGGATCGGGGAGGCCGATCCAGCTGGCGAGTTCTGTGAGCCGGGGAGAAGCGCCAGAATTTCCCAGTCGGCCCCCTAGCCCTCCGCTTGCCGCCTCACCTCACCTTCCCCGGTGAGCGCCCTCTCTCACCTTAGCCAAACTGCCTTCTTCCCAGGGCTTAGCTGGTCTCTTCTCTTGGTCTCCGGTGCCTCCTTTCATACCAGGGAGGAAACGTCCCCAAACAGACCTTCCTTTTGAGCGATATGGTCCCCCAAAGAACTATAGGCAAAATGAAACTCAGAATTTGGGGTCTGACTTAACCAGAACTTCTGCCCTCCTGGGCAGTTTTGTTTCTCTGGAGCTTTCCCCCTAGAAGCTGAGAGCACTTGAAAGAAGCTACTTCTGGGCCTTAGGCTTCCACCAGGGGTCCTGGGACCCCATCCCTAGCCTATCATGCTTTGACACTTGTCCTGGTAGAGGCTGGAGTTCCAAGTGCTCTGGTTGGAAAGGGAAAGAACTCATTGTTGAAGGAAATGCTTCTAGGCTTTGTCCAGTCTGGATGGAGATGGGGAAGAATTCAACCAGTTTCCAGCATCTCCCCTACCTTCCACGGGCCTTGTCTGAGTCTCCATGCTCCCATTCAGGGGCTTGCATTAAGCTCTGGGCTCTTCCTCAGGCCCAATCTCTGCTAGAAGAAAGCTGGTCTCTTGCCATCAGTGCCCCATGTCCTCTTTGGGGCTCAGAAGGTCCTATATTCTCTACCTGGAAGATAGAATGACCAAATTCCACACATTTATCAAGACCTCCTAGGTTAAAGCCCCTCTGAGAAGCCTTCTCTGATATCTCTAGAACACAACGTCTCCCTGGCTTTCTGAATCCCCCTGGCATTTATAGCCTAAGCTACATATGTTTTTGTGT
|
ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCTAATTAAGCAAGCGACCCTAATACCGGATGGAGAATTTGAGAATTATTTTAAAGCCACCCAGCTAATTCCATTGCGCACTAAGGCAGGGGTCAGTCAAGAAGACAGCTTTGTGGGCGTGTGCTTGTAAATGTAGTACAAAAATATAGTCAGTCTGAGTCCAGGCCACGTATAGTCACGCTGTATTCCTCAAATGCCCAGGAGCGCGCCTCCAGCTTAGCGCACTACCGGGTGACCCGGCCAGAGTCTCCTGCTCCCGGCTCCTCGCAGCTGCGCCGCAGGCTCCAGCCCTGCCCCCGCTGCGCTAATGACCGGAAAGCCCGCCTGAGCCCGCCGCCTTCCACGCTATCCCTGGAAACAGCCTGGTGGCAGGAGAGGGCCCACAGAGCCTCGAAGGCAGAGAACTTTTATTCCCCCCGCCGAAGAGTTTCCCTCTGCGATTGATTTACAATCTGTAACATACAAAGACAGGGCTGGAATCCCAGCCGTCGGAAACGTGCCCAAACACGTGGAAAAAAAAATCCTCTCTACCTAATACACTTTCCAGGCTTCGTTTGTCCTGAATATAATCCCAGACAGTGGACCTTACCAAAGGAGGGGTAGAAAGGTGCAGTCCGAACAGCATTTGGACCCGACTACAAGAGCCATCTCTAACTATACCGGTTGAAATAGTTGTAGCAACCGTAGCAATCGACCAGCCTGCTCCCCTTCCCTGACACACACATACACACACACACACGCACACACACACACACCACGCAGCCTGGCTCGGTGAGTTCCAGAATTTAGAAAAGTAACTCATTGTAGTACCTCGGGGCGGCGGGGAATGGGGTAAGACCGCGGGGAAGGGGGCGCTATTTTCGGGGGCATTTGAAAAGCACGGTCTGGTTGGAATGTTATCGTCTTTCAGATGGCCTCTCCTACTGGAAGTTTCTGTACCCTTTATCAGAAGAGAGGCGCAGGCGGACGGAGGGAAGTCGAGATGAGCGCTAGGGCTGCACCTTGCTCCAGGGCCAGCTGGGAGGGGGAGGGTACCCTAAAGAGGCGCTGAGGTCTCAGAGGGCCTATCGGAAGCCGTTCTTTGTGGCCTGGGATTTCAGCCCACCAGTGTCAGAGTGTTAGTCCCCTTTGTCTAACTCTGCTTTGAGCCCACCAGCCACCAAGCCTTGGACAGGCTGTGAAGTCAACCCTTTGGCGTTTGCTTGCTCCCTCGCTCGCGCTCTCTCTTTCCTACTTCACCTAAGTTCGATGAGTTGAGATCTGTTTTTGCTGAACTCGAAGTGCTTCGAAGAGGCGAGCTGTGTGCATGTGCGCCTAATTATCAAAGCTGGTGGAAAAGAGCCCATTTATATCTGTGCGCAAACTTCTCCGAGCCAACACTTTGCAAGTTCAGTATTCTAGCGCAACGTAGGGACCTGCAAATACTTGCAACTGCGATGGGCACCGAGGACCCTGGGACAGAGTCCTTGATTGGCAGAACTCTTCTTGGTGAACTTCTGCGTGTCCTGTGCCTAAGTCGGCGCGCTACGACCCCGGGAGCCGTTTTAGCCCGGAGCCGCGGGCTCCAGAGCTGGAGCGGGCCGGGGAGAAGGATGCTGAGGGACGCATGGAAAGCAGGCAGGCAGGCAGGGGCGGGGGAAGACTTACGGACATCCTGGCCCTGACACCGAAGGACAGCGGCGACGAGCAGCGTCAGCAGCACCAGCGTCTGGGGAGCCCCGAGGCGAATCACGGCTCACCGCGGGGCCTGGCTGAGCCGGGCCCGGGCGGAGCGCAGCGAAACGGCAGGAGCACGGCGCGGGTCCGGGTCTCTACCGCGCCCTCATGCAGGAGGCCCTTGGAGCAGGAGGGGGAAGCGGGAGACCCGGCAGCCCAGCAGCGCTCTGCGTCTTCTCCCCGCCGCGGCGCCCGTTATATGCGCCCGGCCCCTTTCGAGGCTGGCGAACTCGCCCAAACCGCGGGCCGCCCCCTGCCCCCCGCTGGGCTGTAACCTGAACCGCCCGCCCCCGGAGCCCGCCTGGGCCCTGCCAGTGCCCGCACCTGCCCAAGCCGGACCCCCCTCTCTGGGAGTCACGCTTCCCGCCCTCCACCCCTAGTGCGCCGAGTGGCCTGATCGGGCGGGGCGCAGAGATGGCCCCTGCCCCCCAAACCCGGGGCTGCGGCGCTGCCCCCCTCTGACCACAGGCGGGAAGGGTGGCCTCCGGCCCCTCCCCTCGGAGTTCTGCCGGAGTTGGAGGGGAGGGGGTGTTTGCAGAGGCGCAGGCCGAGAGCCCTAGACCAAGGACGGAAAAGACATGGGAGGGAGGAGGGAAAGCGGTAGAAAGGAGCAGCGGAGGGCGAGGGGGCACCGCGTCAGGCGTTTGGGAGTGGGGACAGGGAGGAGCCCACAGAGATTCAGAGTCCTAAATCTTGGAGACAGGCTAGCTGAGCCAGATCTGAAGGGTTACCCCGACCTATCTTTTAGCCCTTCCCTGCAGTACCTGGTCCCCAGACTCCCACCTGGACGTTCACAGCGACTGCCCTCCACCCCTCCCCCATCCAGCTCTGCGTTGAAGGCTTCCTCTGGAGCACAGGCCGAAGTTGGCCTGAGCCGACAGCCAGGAAAAGAGCTGGTGTGTTACTGCACAGAAGGAGACCTGTGTGAAGGTGTGGGGGGCAGGGGCAGGCCCTGGGAAGGGGACTGAAAGAGCCACAGAGGACGGAGGGAGCCGAGACTAAACGGTGCAAGCTGCCTGCTGTGGGGGGACTGTCTAGCTCCAGGCTCAGACGTGGTGTCTGCTCTTCCTGGCTGGGGTCCGGGAGTCCCCCGGGGAGTGGGCACTGCCGGCCGTCGTAGAGCAGCTTTGGCCAGGGACGGTTGGTCACTGCTGCGGCCCTGGCCAGGGATCGGGGAGGCCGATCCAGCTGGCGAGTTCTGTGAGCCGGGGAGAAGCGCCAGAATTTCCCAGTCGGCCCCCTAGCCCTCCGCTTGCCGCCTCACCTCACCTTCCCCGGTGAGCGCCCTCTCTCACCTTAGCCAAACTGCCTTCTTCCCAGGGCTTAGCTGGTCTCTTCTCTTGGTCTCCGGTGCCTCCTTTCATACCAGGGAGGAAACGTCCCCAAACAGACCTTCCTTTTGAGCGATATGGTCCCCCAAAGAACTATAGGCAAAATGAAACTCAGAATTTGGGGTCTGACTTAACCAGAACTTCTGCCCTCCTGGGCAGTTTTGTTTCTCTGGAGCTTTCCCCCTAGAAGCTGAGAGCACTTGAAAGAAGCTACTTCTGGGCCTTAGGCTTCCACCAGGGGTCCTGGGACCCCATCCCTAGCCTATCATGCTTTGACACTTGTCCTGGTAGAGGCTGGAGTTCCAAGTGCTCTGGTTGGAAAGGGAAAGAACTCATTGTTGAAGGAAATGCTTCTAGGCTTTGTCCAGTCTGGATGGAGATGGGGAAGAATTCAACCAGTTTCCAGCATCTCCCCTACCTTCCACGGGCCTTGTCTGAGTCTCCATGCTCCCATTCAGGGGCTTGCATTAAGCTCTGGGCTCTTCCTCAGGCCCAATCTCTGCTAGAAGAAAGCTGGTCTCTTGCCATCAGTGCCCCATGTCCTCTTTGGGGCTCAGAAGGTCCTATATTCTCTACCTGGAAGATAGAATGACCAAATTCCACACATTTATCAAGACCTCCTAGGTTAAAGCCCCTCTGAGAAGCCTTCTCTGATATCTCTAGAACACAACGTCTCCCTGGCTTTCTGAATCCCCCTGGCATTTATAGCCTAAGCTACATATGTTTTTGTGT
|
Task1_train_17522
|
Gene COL2A1 (collagen type II alpha 1 chain) on Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign?
|
Pathogenic; Avascular necrosis of femoral head, primary, 1
|
ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCTAATTAAGCAAGCGACCCTAATACCGGATGGAGAATTTGAGAATTATTTTAAAGCCACCCAGCTAATTCCATTGCGCACTAAGGCAGGGGTCAGTCAAGAAGACAGCTTTGTGGGCGTGTGCTTGTAAATGTAGTACAAAAATATAGTCAGTCTGAGTCCAGGCCACGTATAGTCACGCTGTATTCCTCAAATGCCCAGGAGCGCGCCTCCAGCTTAGCGCACTACCGGGTGACCCGGCCAGAGTCTCCTGCTCCCGGCTCCTCGCAGCTGCGCCGCAGGCTCCAGCCCTGCCCCCGCTGCGCTAATGACCGGAAAGCCCGCCTGAGCCCGCCGCCTTCCACGCTATCCCTGGAAACAGCCTGGTGGCAGGAGAGGGCCCACAGAGCCTCGAAGGCAGAGAACTTTTATTCCCCCCGCCGAAGAGTTTCCCTCTGCGATTGATTTACAATCTGTAACATACAAAGACAGGGCTGGAATCCCAGCCGTCGGAAACGTGCCCAAACACGTGGAAAAAAAAATCCTCTCTACCTAATACACTTTCCAGGCTTCGTTTGTCCTGAATATAATCCCAGACAGTGGACCTTACCAAAGGAGGGGTAGAAAGGTGCAGTCCGAACAGCATTTGGACCCGACTACAAGAGCCATCTCTAACTATACCGGTTGAAATAGTTGTAGCAACCGTAGCAATCGACCAGCCTGCTCCCCTTCCCTGACACACACATACACACACACACACGCACACACACACACACCACGCAGCCTGGCTCGGTGAGTTCCAGAATTTAGAAAAGTAACTCATTGTAGTACCTCGGGGCGGCGGGGAATGGGGTAAGACCGCGGGGAAGGGGGCGCTATTTTCGGGGGCATTTGAAAAGCACGGTCTGGTTGGAATGTTATCGTCTTTCAGATGGCCTCTCCTACTGGAAGTTTCTGTACCCTTTATCAGAAGAGAGGCGCAGGCGGACGGAGGGAAGTCGAGATGAGCGCTAGGGCTGCACCTTGCTCCAGGGCCAGCTGGGAGGGGGAGGGTACCCTAAAGAGGCGCTGAGGTCTCAGAGGGCCTATCGGAAGCCGTTCTTTGTGGCCTGGGATTTCAGCCCACCAGTGTCAGAGTGTTAGTCCCCTTTGTCTAACTCTGCTTTGAGCCCACCAGCCACCAAGCCTTGGACAGGCTGTGAAGTCAACCCTTTGGCGTTTGCTTGCTCCCTCGCTCGCGCTCTCTCTTTCCTACTTCACCTAAGTTCGATGAGTTGAGATCTGTTTTTGCTGAACTCGAAGTGCTTCGAAGAGGCGAGCTGTGTGCATGTGCGCCTAATTATCAAAGCTGGTGGAAAAGAGCCCATTTATATCTGTGCGCAAACTTCTCCGAGCCAACACTTTGCAAGTTCAGTATTCTAGCGCAACGTAGGGACCTGCAAATACTTGCAACTGCGATGGGCACCGAGGACCCTGGGACAGAGTCCTTGATTGGCAGAACTCTTCTTGGTGAACTTCTGCGTGTCCTGTGCCTAAGTCGGCGCGCTACGACCCCGGGAGCCGTTTTAGCCCGGAGCCGCGGGCTCCAGAGCTGGAGCGGGCCGGGGAGAAGGATGCTGAGGGACGCATGGAAAGCAGGCAGGCAGGCAGGGGCGGGGGAAGACTTACGGACATCCTGGCCCTGACACCGAAGGACAGCGGCGACGAGCAGCGTCAGCAGCACCAGCGTCTGGGGAGCCCCGAGGCGAATCATGGCTCACCGCGGGGCCTGGCTGAGCCGGGCCCGGGCGGAGCGCAGCGAAACGGCAGGAGCACGGCGCGGGTCCGGGTCTCTACCGCGCCCTCATGCAGGAGGCCCTTGGAGCAGGAGGGGGAAGCGGGAGACCCGGCAGCCCAGCAGCGCTCTGCGTCTTCTCCCCGCCGCGGCGCCCGTTATATGCGCCCGGCCCCTTTCGAGGCTGGCGAACTCGCCCAAACCGCGGGCCGCCCCCTGCCCCCCGCTGGGCTGTAACCTGAACCGCCCGCCCCCGGAGCCCGCCTGGGCCCTGCCAGTGCCCGCACCTGCCCAAGCCGGACCCCCCTCTCTGGGAGTCACGCTTCCCGCCCTCCACCCCTAGTGCGCCGAGTGGCCTGATCGGGCGGGGCGCAGAGATGGCCCCTGCCCCCCAAACCCGGGGCTGCGGCGCTGCCCCCCTCTGACCACAGGCGGGAAGGGTGGCCTCCGGCCCCTCCCCTCGGAGTTCTGCCGGAGTTGGAGGGGAGGGGGTGTTTGCAGAGGCGCAGGCCGAGAGCCCTAGACCAAGGACGGAAAAGACATGGGAGGGAGGAGGGAAAGCGGTAGAAAGGAGCAGCGGAGGGCGAGGGGGCACCGCGTCAGGCGTTTGGGAGTGGGGACAGGGAGGAGCCCACAGAGATTCAGAGTCCTAAATCTTGGAGACAGGCTAGCTGAGCCAGATCTGAAGGGTTACCCCGACCTATCTTTTAGCCCTTCCCTGCAGTACCTGGTCCCCAGACTCCCACCTGGACGTTCACAGCGACTGCCCTCCACCCCTCCCCCATCCAGCTCTGCGTTGAAGGCTTCCTCTGGAGCACAGGCCGAAGTTGGCCTGAGCCGACAGCCAGGAAAAGAGCTGGTGTGTTACTGCACAGAAGGAGACCTGTGTGAAGGTGTGGGGGGCAGGGGCAGGCCCTGGGAAGGGGACTGAAAGAGCCACAGAGGACGGAGGGAGCCGAGACTAAACGGTGCAAGCTGCCTGCTGTGGGGGGACTGTCTAGCTCCAGGCTCAGACGTGGTGTCTGCTCTTCCTGGCTGGGGTCCGGGAGTCCCCCGGGGAGTGGGCACTGCCGGCCGTCGTAGAGCAGCTTTGGCCAGGGACGGTTGGTCACTGCTGCGGCCCTGGCCAGGGATCGGGGAGGCCGATCCAGCTGGCGAGTTCTGTGAGCCGGGGAGAAGCGCCAGAATTTCCCAGTCGGCCCCCTAGCCCTCCGCTTGCCGCCTCACCTCACCTTCCCCGGTGAGCGCCCTCTCTCACCTTAGCCAAACTGCCTTCTTCCCAGGGCTTAGCTGGTCTCTTCTCTTGGTCTCCGGTGCCTCCTTTCATACCAGGGAGGAAACGTCCCCAAACAGACCTTCCTTTTGAGCGATATGGTCCCCCAAAGAACTATAGGCAAAATGAAACTCAGAATTTGGGGTCTGACTTAACCAGAACTTCTGCCCTCCTGGGCAGTTTTGTTTCTCTGGAGCTTTCCCCCTAGAAGCTGAGAGCACTTGAAAGAAGCTACTTCTGGGCCTTAGGCTTCCACCAGGGGTCCTGGGACCCCATCCCTAGCCTATCATGCTTTGACACTTGTCCTGGTAGAGGCTGGAGTTCCAAGTGCTCTGGTTGGAAAGGGAAAGAACTCATTGTTGAAGGAAATGCTTCTAGGCTTTGTCCAGTCTGGATGGAGATGGGGAAGAATTCAACCAGTTTCCAGCATCTCCCCTACCTTCCACGGGCCTTGTCTGAGTCTCCATGCTCCCATTCAGGGGCTTGCATTAAGCTCTGGGCTCTTCCTCAGGCCCAATCTCTGCTAGAAGAAAGCTGGTCTCTTGCCATCAGTGCCCCATGTCCTCTTTGGGGCTCAGAAGGTCCTATATTCTCTACCTGGAAGATAGAATGACCAAATTCCACACATTTATCAAGACCTCCTAGGTTAAAGCCCCTCTGAGAAGCCTTCTCTGATATCTCTAGAACACAACGTCTCCCTGGCTTTCTGAATCCCCCTGGCATTTATAGCCTAAGCTACATATGTTTTTGTGT
|
ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCTAATTAAGCAAGCGACCCTAATACCGGATGGAGAATTTGAGAATTATTTTAAAGCCACCCAGCTAATTCCATTGCGCACTAAGGCAGGGGTCAGTCAAGAAGACAGCTTTGTGGGCGTGTGCTTGTAAATGTAGTACAAAAATATAGTCAGTCTGAGTCCAGGCCACGTATAGTCACGCTGTATTCCTCAAATGCCCAGGAGCGCGCCTCCAGCTTAGCGCACTACCGGGTGACCCGGCCAGAGTCTCCTGCTCCCGGCTCCTCGCAGCTGCGCCGCAGGCTCCAGCCCTGCCCCCGCTGCGCTAATGACCGGAAAGCCCGCCTGAGCCCGCCGCCTTCCACGCTATCCCTGGAAACAGCCTGGTGGCAGGAGAGGGCCCACAGAGCCTCGAAGGCAGAGAACTTTTATTCCCCCCGCCGAAGAGTTTCCCTCTGCGATTGATTTACAATCTGTAACATACAAAGACAGGGCTGGAATCCCAGCCGTCGGAAACGTGCCCAAACACGTGGAAAAAAAAATCCTCTCTACCTAATACACTTTCCAGGCTTCGTTTGTCCTGAATATAATCCCAGACAGTGGACCTTACCAAAGGAGGGGTAGAAAGGTGCAGTCCGAACAGCATTTGGACCCGACTACAAGAGCCATCTCTAACTATACCGGTTGAAATAGTTGTAGCAACCGTAGCAATCGACCAGCCTGCTCCCCTTCCCTGACACACACATACACACACACACACGCACACACACACACACCACGCAGCCTGGCTCGGTGAGTTCCAGAATTTAGAAAAGTAACTCATTGTAGTACCTCGGGGCGGCGGGGAATGGGGTAAGACCGCGGGGAAGGGGGCGCTATTTTCGGGGGCATTTGAAAAGCACGGTCTGGTTGGAATGTTATCGTCTTTCAGATGGCCTCTCCTACTGGAAGTTTCTGTACCCTTTATCAGAAGAGAGGCGCAGGCGGACGGAGGGAAGTCGAGATGAGCGCTAGGGCTGCACCTTGCTCCAGGGCCAGCTGGGAGGGGGAGGGTACCCTAAAGAGGCGCTGAGGTCTCAGAGGGCCTATCGGAAGCCGTTCTTTGTGGCCTGGGATTTCAGCCCACCAGTGTCAGAGTGTTAGTCCCCTTTGTCTAACTCTGCTTTGAGCCCACCAGCCACCAAGCCTTGGACAGGCTGTGAAGTCAACCCTTTGGCGTTTGCTTGCTCCCTCGCTCGCGCTCTCTCTTTCCTACTTCACCTAAGTTCGATGAGTTGAGATCTGTTTTTGCTGAACTCGAAGTGCTTCGAAGAGGCGAGCTGTGTGCATGTGCGCCTAATTATCAAAGCTGGTGGAAAAGAGCCCATTTATATCTGTGCGCAAACTTCTCCGAGCCAACACTTTGCAAGTTCAGTATTCTAGCGCAACGTAGGGACCTGCAAATACTTGCAACTGCGATGGGCACCGAGGACCCTGGGACAGAGTCCTTGATTGGCAGAACTCTTCTTGGTGAACTTCTGCGTGTCCTGTGCCTAAGTCGGCGCGCTACGACCCCGGGAGCCGTTTTAGCCCGGAGCCGCGGGCTCCAGAGCTGGAGCGGGCCGGGGAGAAGGATGCTGAGGGACGCATGGAAAGCAGGCAGGCAGGCAGGGGCGGGGGAAGACTTACGGACATCCTGGCCCTGACACCGAAGGACAGCGGCGACGAGCAGCGTCAGCAGCACCAGCGTCTGGGGAGCCCCGAGGCGAATCACGGCTCACCGCGGGGCCTGGCTGAGCCGGGCCCGGGCGGAGCGCAGCGAAACGGCAGGAGCACGGCGCGGGTCCGGGTCTCTACCGCGCCCTCATGCAGGAGGCCCTTGGAGCAGGAGGGGGAAGCGGGAGACCCGGCAGCCCAGCAGCGCTCTGCGTCTTCTCCCCGCCGCGGCGCCCGTTATATGCGCCCGGCCCCTTTCGAGGCTGGCGAACTCGCCCAAACCGCGGGCCGCCCCCTGCCCCCCGCTGGGCTGTAACCTGAACCGCCCGCCCCCGGAGCCCGCCTGGGCCCTGCCAGTGCCCGCACCTGCCCAAGCCGGACCCCCCTCTCTGGGAGTCACGCTTCCCGCCCTCCACCCCTAGTGCGCCGAGTGGCCTGATCGGGCGGGGCGCAGAGATGGCCCCTGCCCCCCAAACCCGGGGCTGCGGCGCTGCCCCCCTCTGACCACAGGCGGGAAGGGTGGCCTCCGGCCCCTCCCCTCGGAGTTCTGCCGGAGTTGGAGGGGAGGGGGTGTTTGCAGAGGCGCAGGCCGAGAGCCCTAGACCAAGGACGGAAAAGACATGGGAGGGAGGAGGGAAAGCGGTAGAAAGGAGCAGCGGAGGGCGAGGGGGCACCGCGTCAGGCGTTTGGGAGTGGGGACAGGGAGGAGCCCACAGAGATTCAGAGTCCTAAATCTTGGAGACAGGCTAGCTGAGCCAGATCTGAAGGGTTACCCCGACCTATCTTTTAGCCCTTCCCTGCAGTACCTGGTCCCCAGACTCCCACCTGGACGTTCACAGCGACTGCCCTCCACCCCTCCCCCATCCAGCTCTGCGTTGAAGGCTTCCTCTGGAGCACAGGCCGAAGTTGGCCTGAGCCGACAGCCAGGAAAAGAGCTGGTGTGTTACTGCACAGAAGGAGACCTGTGTGAAGGTGTGGGGGGCAGGGGCAGGCCCTGGGAAGGGGACTGAAAGAGCCACAGAGGACGGAGGGAGCCGAGACTAAACGGTGCAAGCTGCCTGCTGTGGGGGGACTGTCTAGCTCCAGGCTCAGACGTGGTGTCTGCTCTTCCTGGCTGGGGTCCGGGAGTCCCCCGGGGAGTGGGCACTGCCGGCCGTCGTAGAGCAGCTTTGGCCAGGGACGGTTGGTCACTGCTGCGGCCCTGGCCAGGGATCGGGGAGGCCGATCCAGCTGGCGAGTTCTGTGAGCCGGGGAGAAGCGCCAGAATTTCCCAGTCGGCCCCCTAGCCCTCCGCTTGCCGCCTCACCTCACCTTCCCCGGTGAGCGCCCTCTCTCACCTTAGCCAAACTGCCTTCTTCCCAGGGCTTAGCTGGTCTCTTCTCTTGGTCTCCGGTGCCTCCTTTCATACCAGGGAGGAAACGTCCCCAAACAGACCTTCCTTTTGAGCGATATGGTCCCCCAAAGAACTATAGGCAAAATGAAACTCAGAATTTGGGGTCTGACTTAACCAGAACTTCTGCCCTCCTGGGCAGTTTTGTTTCTCTGGAGCTTTCCCCCTAGAAGCTGAGAGCACTTGAAAGAAGCTACTTCTGGGCCTTAGGCTTCCACCAGGGGTCCTGGGACCCCATCCCTAGCCTATCATGCTTTGACACTTGTCCTGGTAGAGGCTGGAGTTCCAAGTGCTCTGGTTGGAAAGGGAAAGAACTCATTGTTGAAGGAAATGCTTCTAGGCTTTGTCCAGTCTGGATGGAGATGGGGAAGAATTCAACCAGTTTCCAGCATCTCCCCTACCTTCCACGGGCCTTGTCTGAGTCTCCATGCTCCCATTCAGGGGCTTGCATTAAGCTCTGGGCTCTTCCTCAGGCCCAATCTCTGCTAGAAGAAAGCTGGTCTCTTGCCATCAGTGCCCCATGTCCTCTTTGGGGCTCAGAAGGTCCTATATTCTCTACCTGGAAGATAGAATGACCAAATTCCACACATTTATCAAGACCTCCTAGGTTAAAGCCCCTCTGAGAAGCCTTCTCTGATATCTCTAGAACACAACGTCTCCCTGGCTTTCTGAATCCCCCTGGCATTTATAGCCTAAGCTACATATGTTTTTGTGT
|
Task1_train_17523
|
With a mutation on Chromosome 12 in gene COL2A1 (collagen type II alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
|
Pathogenic; Legg-Calve-Perthes disease
|
ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCTAATTAAGCAAGCGACCCTAATACCGGATGGAGAATTTGAGAATTATTTTAAAGCCACCCAGCTAATTCCATTGCGCACTAAGGCAGGGGTCAGTCAAGAAGACAGCTTTGTGGGCGTGTGCTTGTAAATGTAGTACAAAAATATAGTCAGTCTGAGTCCAGGCCACGTATAGTCACGCTGTATTCCTCAAATGCCCAGGAGCGCGCCTCCAGCTTAGCGCACTACCGGGTGACCCGGCCAGAGTCTCCTGCTCCCGGCTCCTCGCAGCTGCGCCGCAGGCTCCAGCCCTGCCCCCGCTGCGCTAATGACCGGAAAGCCCGCCTGAGCCCGCCGCCTTCCACGCTATCCCTGGAAACAGCCTGGTGGCAGGAGAGGGCCCACAGAGCCTCGAAGGCAGAGAACTTTTATTCCCCCCGCCGAAGAGTTTCCCTCTGCGATTGATTTACAATCTGTAACATACAAAGACAGGGCTGGAATCCCAGCCGTCGGAAACGTGCCCAAACACGTGGAAAAAAAAATCCTCTCTACCTAATACACTTTCCAGGCTTCGTTTGTCCTGAATATAATCCCAGACAGTGGACCTTACCAAAGGAGGGGTAGAAAGGTGCAGTCCGAACAGCATTTGGACCCGACTACAAGAGCCATCTCTAACTATACCGGTTGAAATAGTTGTAGCAACCGTAGCAATCGACCAGCCTGCTCCCCTTCCCTGACACACACATACACACACACACACGCACACACACACACACCACGCAGCCTGGCTCGGTGAGTTCCAGAATTTAGAAAAGTAACTCATTGTAGTACCTCGGGGCGGCGGGGAATGGGGTAAGACCGCGGGGAAGGGGGCGCTATTTTCGGGGGCATTTGAAAAGCACGGTCTGGTTGGAATGTTATCGTCTTTCAGATGGCCTCTCCTACTGGAAGTTTCTGTACCCTTTATCAGAAGAGAGGCGCAGGCGGACGGAGGGAAGTCGAGATGAGCGCTAGGGCTGCACCTTGCTCCAGGGCCAGCTGGGAGGGGGAGGGTACCCTAAAGAGGCGCTGAGGTCTCAGAGGGCCTATCGGAAGCCGTTCTTTGTGGCCTGGGATTTCAGCCCACCAGTGTCAGAGTGTTAGTCCCCTTTGTCTAACTCTGCTTTGAGCCCACCAGCCACCAAGCCTTGGACAGGCTGTGAAGTCAACCCTTTGGCGTTTGCTTGCTCCCTCGCTCGCGCTCTCTCTTTCCTACTTCACCTAAGTTCGATGAGTTGAGATCTGTTTTTGCTGAACTCGAAGTGCTTCGAAGAGGCGAGCTGTGTGCATGTGCGCCTAATTATCAAAGCTGGTGGAAAAGAGCCCATTTATATCTGTGCGCAAACTTCTCCGAGCCAACACTTTGCAAGTTCAGTATTCTAGCGCAACGTAGGGACCTGCAAATACTTGCAACTGCGATGGGCACCGAGGACCCTGGGACAGAGTCCTTGATTGGCAGAACTCTTCTTGGTGAACTTCTGCGTGTCCTGTGCCTAAGTCGGCGCGCTACGACCCCGGGAGCCGTTTTAGCCCGGAGCCGCGGGCTCCAGAGCTGGAGCGGGCCGGGGAGAAGGATGCTGAGGGACGCATGGAAAGCAGGCAGGCAGGCAGGGGCGGGGGAAGACTTACGGACATCCTGGCCCTGACACCGAAGGACAGCGGCGACGAGCAGCGTCAGCAGCACCAGCGTCTGGGGAGCCCCGAGGCGAATCATGGCTCACCGCGGGGCCTGGCTGAGCCGGGCCCGGGCGGAGCGCAGCGAAACGGCAGGAGCACGGCGCGGGTCCGGGTCTCTACCGCGCCCTCATGCAGGAGGCCCTTGGAGCAGGAGGGGGAAGCGGGAGACCCGGCAGCCCAGCAGCGCTCTGCGTCTTCTCCCCGCCGCGGCGCCCGTTATATGCGCCCGGCCCCTTTCGAGGCTGGCGAACTCGCCCAAACCGCGGGCCGCCCCCTGCCCCCCGCTGGGCTGTAACCTGAACCGCCCGCCCCCGGAGCCCGCCTGGGCCCTGCCAGTGCCCGCACCTGCCCAAGCCGGACCCCCCTCTCTGGGAGTCACGCTTCCCGCCCTCCACCCCTAGTGCGCCGAGTGGCCTGATCGGGCGGGGCGCAGAGATGGCCCCTGCCCCCCAAACCCGGGGCTGCGGCGCTGCCCCCCTCTGACCACAGGCGGGAAGGGTGGCCTCCGGCCCCTCCCCTCGGAGTTCTGCCGGAGTTGGAGGGGAGGGGGTGTTTGCAGAGGCGCAGGCCGAGAGCCCTAGACCAAGGACGGAAAAGACATGGGAGGGAGGAGGGAAAGCGGTAGAAAGGAGCAGCGGAGGGCGAGGGGGCACCGCGTCAGGCGTTTGGGAGTGGGGACAGGGAGGAGCCCACAGAGATTCAGAGTCCTAAATCTTGGAGACAGGCTAGCTGAGCCAGATCTGAAGGGTTACCCCGACCTATCTTTTAGCCCTTCCCTGCAGTACCTGGTCCCCAGACTCCCACCTGGACGTTCACAGCGACTGCCCTCCACCCCTCCCCCATCCAGCTCTGCGTTGAAGGCTTCCTCTGGAGCACAGGCCGAAGTTGGCCTGAGCCGACAGCCAGGAAAAGAGCTGGTGTGTTACTGCACAGAAGGAGACCTGTGTGAAGGTGTGGGGGGCAGGGGCAGGCCCTGGGAAGGGGACTGAAAGAGCCACAGAGGACGGAGGGAGCCGAGACTAAACGGTGCAAGCTGCCTGCTGTGGGGGGACTGTCTAGCTCCAGGCTCAGACGTGGTGTCTGCTCTTCCTGGCTGGGGTCCGGGAGTCCCCCGGGGAGTGGGCACTGCCGGCCGTCGTAGAGCAGCTTTGGCCAGGGACGGTTGGTCACTGCTGCGGCCCTGGCCAGGGATCGGGGAGGCCGATCCAGCTGGCGAGTTCTGTGAGCCGGGGAGAAGCGCCAGAATTTCCCAGTCGGCCCCCTAGCCCTCCGCTTGCCGCCTCACCTCACCTTCCCCGGTGAGCGCCCTCTCTCACCTTAGCCAAACTGCCTTCTTCCCAGGGCTTAGCTGGTCTCTTCTCTTGGTCTCCGGTGCCTCCTTTCATACCAGGGAGGAAACGTCCCCAAACAGACCTTCCTTTTGAGCGATATGGTCCCCCAAAGAACTATAGGCAAAATGAAACTCAGAATTTGGGGTCTGACTTAACCAGAACTTCTGCCCTCCTGGGCAGTTTTGTTTCTCTGGAGCTTTCCCCCTAGAAGCTGAGAGCACTTGAAAGAAGCTACTTCTGGGCCTTAGGCTTCCACCAGGGGTCCTGGGACCCCATCCCTAGCCTATCATGCTTTGACACTTGTCCTGGTAGAGGCTGGAGTTCCAAGTGCTCTGGTTGGAAAGGGAAAGAACTCATTGTTGAAGGAAATGCTTCTAGGCTTTGTCCAGTCTGGATGGAGATGGGGAAGAATTCAACCAGTTTCCAGCATCTCCCCTACCTTCCACGGGCCTTGTCTGAGTCTCCATGCTCCCATTCAGGGGCTTGCATTAAGCTCTGGGCTCTTCCTCAGGCCCAATCTCTGCTAGAAGAAAGCTGGTCTCTTGCCATCAGTGCCCCATGTCCTCTTTGGGGCTCAGAAGGTCCTATATTCTCTACCTGGAAGATAGAATGACCAAATTCCACACATTTATCAAGACCTCCTAGGTTAAAGCCCCTCTGAGAAGCCTTCTCTGATATCTCTAGAACACAACGTCTCCCTGGCTTTCTGAATCCCCCTGGCATTTATAGCCTAAGCTACATATGTTTTTGTGT
|
ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCTAATTAAGCAAGCGACCCTAATACCGGATGGAGAATTTGAGAATTATTTTAAAGCCACCCAGCTAATTCCATTGCGCACTAAGGCAGGGGTCAGTCAAGAAGACAGCTTTGTGGGCGTGTGCTTGTAAATGTAGTACAAAAATATAGTCAGTCTGAGTCCAGGCCACGTATAGTCACGCTGTATTCCTCAAATGCCCAGGAGCGCGCCTCCAGCTTAGCGCACTACCGGGTGACCCGGCCAGAGTCTCCTGCTCCCGGCTCCTCGCAGCTGCGCCGCAGGCTCCAGCCCTGCCCCCGCTGCGCTAATGACCGGAAAGCCCGCCTGAGCCCGCCGCCTTCCACGCTATCCCTGGAAACAGCCTGGTGGCAGGAGAGGGCCCACAGAGCCTCGAAGGCAGAGAACTTTTATTCCCCCCGCCGAAGAGTTTCCCTCTGCGATTGATTTACAATCTGTAACATACAAAGACAGGGCTGGAATCCCAGCCGTCGGAAACGTGCCCAAACACGTGGAAAAAAAAATCCTCTCTACCTAATACACTTTCCAGGCTTCGTTTGTCCTGAATATAATCCCAGACAGTGGACCTTACCAAAGGAGGGGTAGAAAGGTGCAGTCCGAACAGCATTTGGACCCGACTACAAGAGCCATCTCTAACTATACCGGTTGAAATAGTTGTAGCAACCGTAGCAATCGACCAGCCTGCTCCCCTTCCCTGACACACACATACACACACACACACGCACACACACACACACCACGCAGCCTGGCTCGGTGAGTTCCAGAATTTAGAAAAGTAACTCATTGTAGTACCTCGGGGCGGCGGGGAATGGGGTAAGACCGCGGGGAAGGGGGCGCTATTTTCGGGGGCATTTGAAAAGCACGGTCTGGTTGGAATGTTATCGTCTTTCAGATGGCCTCTCCTACTGGAAGTTTCTGTACCCTTTATCAGAAGAGAGGCGCAGGCGGACGGAGGGAAGTCGAGATGAGCGCTAGGGCTGCACCTTGCTCCAGGGCCAGCTGGGAGGGGGAGGGTACCCTAAAGAGGCGCTGAGGTCTCAGAGGGCCTATCGGAAGCCGTTCTTTGTGGCCTGGGATTTCAGCCCACCAGTGTCAGAGTGTTAGTCCCCTTTGTCTAACTCTGCTTTGAGCCCACCAGCCACCAAGCCTTGGACAGGCTGTGAAGTCAACCCTTTGGCGTTTGCTTGCTCCCTCGCTCGCGCTCTCTCTTTCCTACTTCACCTAAGTTCGATGAGTTGAGATCTGTTTTTGCTGAACTCGAAGTGCTTCGAAGAGGCGAGCTGTGTGCATGTGCGCCTAATTATCAAAGCTGGTGGAAAAGAGCCCATTTATATCTGTGCGCAAACTTCTCCGAGCCAACACTTTGCAAGTTCAGTATTCTAGCGCAACGTAGGGACCTGCAAATACTTGCAACTGCGATGGGCACCGAGGACCCTGGGACAGAGTCCTTGATTGGCAGAACTCTTCTTGGTGAACTTCTGCGTGTCCTGTGCCTAAGTCGGCGCGCTACGACCCCGGGAGCCGTTTTAGCCCGGAGCCGCGGGCTCCAGAGCTGGAGCGGGCCGGGGAGAAGGATGCTGAGGGACGCATGGAAAGCAGGCAGGCAGGCAGGGGCGGGGGAAGACTTACGGACATCCTGGCCCTGACACCGAAGGACAGCGGCGACGAGCAGCGTCAGCAGCACCAGCGTCTGGGGAGCCCCGAGGCGAATCACGGCTCACCGCGGGGCCTGGCTGAGCCGGGCCCGGGCGGAGCGCAGCGAAACGGCAGGAGCACGGCGCGGGTCCGGGTCTCTACCGCGCCCTCATGCAGGAGGCCCTTGGAGCAGGAGGGGGAAGCGGGAGACCCGGCAGCCCAGCAGCGCTCTGCGTCTTCTCCCCGCCGCGGCGCCCGTTATATGCGCCCGGCCCCTTTCGAGGCTGGCGAACTCGCCCAAACCGCGGGCCGCCCCCTGCCCCCCGCTGGGCTGTAACCTGAACCGCCCGCCCCCGGAGCCCGCCTGGGCCCTGCCAGTGCCCGCACCTGCCCAAGCCGGACCCCCCTCTCTGGGAGTCACGCTTCCCGCCCTCCACCCCTAGTGCGCCGAGTGGCCTGATCGGGCGGGGCGCAGAGATGGCCCCTGCCCCCCAAACCCGGGGCTGCGGCGCTGCCCCCCTCTGACCACAGGCGGGAAGGGTGGCCTCCGGCCCCTCCCCTCGGAGTTCTGCCGGAGTTGGAGGGGAGGGGGTGTTTGCAGAGGCGCAGGCCGAGAGCCCTAGACCAAGGACGGAAAAGACATGGGAGGGAGGAGGGAAAGCGGTAGAAAGGAGCAGCGGAGGGCGAGGGGGCACCGCGTCAGGCGTTTGGGAGTGGGGACAGGGAGGAGCCCACAGAGATTCAGAGTCCTAAATCTTGGAGACAGGCTAGCTGAGCCAGATCTGAAGGGTTACCCCGACCTATCTTTTAGCCCTTCCCTGCAGTACCTGGTCCCCAGACTCCCACCTGGACGTTCACAGCGACTGCCCTCCACCCCTCCCCCATCCAGCTCTGCGTTGAAGGCTTCCTCTGGAGCACAGGCCGAAGTTGGCCTGAGCCGACAGCCAGGAAAAGAGCTGGTGTGTTACTGCACAGAAGGAGACCTGTGTGAAGGTGTGGGGGGCAGGGGCAGGCCCTGGGAAGGGGACTGAAAGAGCCACAGAGGACGGAGGGAGCCGAGACTAAACGGTGCAAGCTGCCTGCTGTGGGGGGACTGTCTAGCTCCAGGCTCAGACGTGGTGTCTGCTCTTCCTGGCTGGGGTCCGGGAGTCCCCCGGGGAGTGGGCACTGCCGGCCGTCGTAGAGCAGCTTTGGCCAGGGACGGTTGGTCACTGCTGCGGCCCTGGCCAGGGATCGGGGAGGCCGATCCAGCTGGCGAGTTCTGTGAGCCGGGGAGAAGCGCCAGAATTTCCCAGTCGGCCCCCTAGCCCTCCGCTTGCCGCCTCACCTCACCTTCCCCGGTGAGCGCCCTCTCTCACCTTAGCCAAACTGCCTTCTTCCCAGGGCTTAGCTGGTCTCTTCTCTTGGTCTCCGGTGCCTCCTTTCATACCAGGGAGGAAACGTCCCCAAACAGACCTTCCTTTTGAGCGATATGGTCCCCCAAAGAACTATAGGCAAAATGAAACTCAGAATTTGGGGTCTGACTTAACCAGAACTTCTGCCCTCCTGGGCAGTTTTGTTTCTCTGGAGCTTTCCCCCTAGAAGCTGAGAGCACTTGAAAGAAGCTACTTCTGGGCCTTAGGCTTCCACCAGGGGTCCTGGGACCCCATCCCTAGCCTATCATGCTTTGACACTTGTCCTGGTAGAGGCTGGAGTTCCAAGTGCTCTGGTTGGAAAGGGAAAGAACTCATTGTTGAAGGAAATGCTTCTAGGCTTTGTCCAGTCTGGATGGAGATGGGGAAGAATTCAACCAGTTTCCAGCATCTCCCCTACCTTCCACGGGCCTTGTCTGAGTCTCCATGCTCCCATTCAGGGGCTTGCATTAAGCTCTGGGCTCTTCCTCAGGCCCAATCTCTGCTAGAAGAAAGCTGGTCTCTTGCCATCAGTGCCCCATGTCCTCTTTGGGGCTCAGAAGGTCCTATATTCTCTACCTGGAAGATAGAATGACCAAATTCCACACATTTATCAAGACCTCCTAGGTTAAAGCCCCTCTGAGAAGCCTTCTCTGATATCTCTAGAACACAACGTCTCCCTGGCTTTCTGAATCCCCCTGGCATTTATAGCCTAAGCTACATATGTTTTTGTGT
|
Task1_train_17524
|
The gene COL2A1 (collagen type II alpha 1 chain) on Chromosome 12 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
|
Pathogenic; Spondyloperipheral dysplasia
|
ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCTAATTAAGCAAGCGACCCTAATACCGGATGGAGAATTTGAGAATTATTTTAAAGCCACCCAGCTAATTCCATTGCGCACTAAGGCAGGGGTCAGTCAAGAAGACAGCTTTGTGGGCGTGTGCTTGTAAATGTAGTACAAAAATATAGTCAGTCTGAGTCCAGGCCACGTATAGTCACGCTGTATTCCTCAAATGCCCAGGAGCGCGCCTCCAGCTTAGCGCACTACCGGGTGACCCGGCCAGAGTCTCCTGCTCCCGGCTCCTCGCAGCTGCGCCGCAGGCTCCAGCCCTGCCCCCGCTGCGCTAATGACCGGAAAGCCCGCCTGAGCCCGCCGCCTTCCACGCTATCCCTGGAAACAGCCTGGTGGCAGGAGAGGGCCCACAGAGCCTCGAAGGCAGAGAACTTTTATTCCCCCCGCCGAAGAGTTTCCCTCTGCGATTGATTTACAATCTGTAACATACAAAGACAGGGCTGGAATCCCAGCCGTCGGAAACGTGCCCAAACACGTGGAAAAAAAAATCCTCTCTACCTAATACACTTTCCAGGCTTCGTTTGTCCTGAATATAATCCCAGACAGTGGACCTTACCAAAGGAGGGGTAGAAAGGTGCAGTCCGAACAGCATTTGGACCCGACTACAAGAGCCATCTCTAACTATACCGGTTGAAATAGTTGTAGCAACCGTAGCAATCGACCAGCCTGCTCCCCTTCCCTGACACACACATACACACACACACACGCACACACACACACACCACGCAGCCTGGCTCGGTGAGTTCCAGAATTTAGAAAAGTAACTCATTGTAGTACCTCGGGGCGGCGGGGAATGGGGTAAGACCGCGGGGAAGGGGGCGCTATTTTCGGGGGCATTTGAAAAGCACGGTCTGGTTGGAATGTTATCGTCTTTCAGATGGCCTCTCCTACTGGAAGTTTCTGTACCCTTTATCAGAAGAGAGGCGCAGGCGGACGGAGGGAAGTCGAGATGAGCGCTAGGGCTGCACCTTGCTCCAGGGCCAGCTGGGAGGGGGAGGGTACCCTAAAGAGGCGCTGAGGTCTCAGAGGGCCTATCGGAAGCCGTTCTTTGTGGCCTGGGATTTCAGCCCACCAGTGTCAGAGTGTTAGTCCCCTTTGTCTAACTCTGCTTTGAGCCCACCAGCCACCAAGCCTTGGACAGGCTGTGAAGTCAACCCTTTGGCGTTTGCTTGCTCCCTCGCTCGCGCTCTCTCTTTCCTACTTCACCTAAGTTCGATGAGTTGAGATCTGTTTTTGCTGAACTCGAAGTGCTTCGAAGAGGCGAGCTGTGTGCATGTGCGCCTAATTATCAAAGCTGGTGGAAAAGAGCCCATTTATATCTGTGCGCAAACTTCTCCGAGCCAACACTTTGCAAGTTCAGTATTCTAGCGCAACGTAGGGACCTGCAAATACTTGCAACTGCGATGGGCACCGAGGACCCTGGGACAGAGTCCTTGATTGGCAGAACTCTTCTTGGTGAACTTCTGCGTGTCCTGTGCCTAAGTCGGCGCGCTACGACCCCGGGAGCCGTTTTAGCCCGGAGCCGCGGGCTCCAGAGCTGGAGCGGGCCGGGGAGAAGGATGCTGAGGGACGCATGGAAAGCAGGCAGGCAGGCAGGGGCGGGGGAAGACTTACGGACATCCTGGCCCTGACACCGAAGGACAGCGGCGACGAGCAGCGTCAGCAGCACCAGCGTCTGGGGAGCCCCGAGGCGAATCATGGCTCACCGCGGGGCCTGGCTGAGCCGGGCCCGGGCGGAGCGCAGCGAAACGGCAGGAGCACGGCGCGGGTCCGGGTCTCTACCGCGCCCTCATGCAGGAGGCCCTTGGAGCAGGAGGGGGAAGCGGGAGACCCGGCAGCCCAGCAGCGCTCTGCGTCTTCTCCCCGCCGCGGCGCCCGTTATATGCGCCCGGCCCCTTTCGAGGCTGGCGAACTCGCCCAAACCGCGGGCCGCCCCCTGCCCCCCGCTGGGCTGTAACCTGAACCGCCCGCCCCCGGAGCCCGCCTGGGCCCTGCCAGTGCCCGCACCTGCCCAAGCCGGACCCCCCTCTCTGGGAGTCACGCTTCCCGCCCTCCACCCCTAGTGCGCCGAGTGGCCTGATCGGGCGGGGCGCAGAGATGGCCCCTGCCCCCCAAACCCGGGGCTGCGGCGCTGCCCCCCTCTGACCACAGGCGGGAAGGGTGGCCTCCGGCCCCTCCCCTCGGAGTTCTGCCGGAGTTGGAGGGGAGGGGGTGTTTGCAGAGGCGCAGGCCGAGAGCCCTAGACCAAGGACGGAAAAGACATGGGAGGGAGGAGGGAAAGCGGTAGAAAGGAGCAGCGGAGGGCGAGGGGGCACCGCGTCAGGCGTTTGGGAGTGGGGACAGGGAGGAGCCCACAGAGATTCAGAGTCCTAAATCTTGGAGACAGGCTAGCTGAGCCAGATCTGAAGGGTTACCCCGACCTATCTTTTAGCCCTTCCCTGCAGTACCTGGTCCCCAGACTCCCACCTGGACGTTCACAGCGACTGCCCTCCACCCCTCCCCCATCCAGCTCTGCGTTGAAGGCTTCCTCTGGAGCACAGGCCGAAGTTGGCCTGAGCCGACAGCCAGGAAAAGAGCTGGTGTGTTACTGCACAGAAGGAGACCTGTGTGAAGGTGTGGGGGGCAGGGGCAGGCCCTGGGAAGGGGACTGAAAGAGCCACAGAGGACGGAGGGAGCCGAGACTAAACGGTGCAAGCTGCCTGCTGTGGGGGGACTGTCTAGCTCCAGGCTCAGACGTGGTGTCTGCTCTTCCTGGCTGGGGTCCGGGAGTCCCCCGGGGAGTGGGCACTGCCGGCCGTCGTAGAGCAGCTTTGGCCAGGGACGGTTGGTCACTGCTGCGGCCCTGGCCAGGGATCGGGGAGGCCGATCCAGCTGGCGAGTTCTGTGAGCCGGGGAGAAGCGCCAGAATTTCCCAGTCGGCCCCCTAGCCCTCCGCTTGCCGCCTCACCTCACCTTCCCCGGTGAGCGCCCTCTCTCACCTTAGCCAAACTGCCTTCTTCCCAGGGCTTAGCTGGTCTCTTCTCTTGGTCTCCGGTGCCTCCTTTCATACCAGGGAGGAAACGTCCCCAAACAGACCTTCCTTTTGAGCGATATGGTCCCCCAAAGAACTATAGGCAAAATGAAACTCAGAATTTGGGGTCTGACTTAACCAGAACTTCTGCCCTCCTGGGCAGTTTTGTTTCTCTGGAGCTTTCCCCCTAGAAGCTGAGAGCACTTGAAAGAAGCTACTTCTGGGCCTTAGGCTTCCACCAGGGGTCCTGGGACCCCATCCCTAGCCTATCATGCTTTGACACTTGTCCTGGTAGAGGCTGGAGTTCCAAGTGCTCTGGTTGGAAAGGGAAAGAACTCATTGTTGAAGGAAATGCTTCTAGGCTTTGTCCAGTCTGGATGGAGATGGGGAAGAATTCAACCAGTTTCCAGCATCTCCCCTACCTTCCACGGGCCTTGTCTGAGTCTCCATGCTCCCATTCAGGGGCTTGCATTAAGCTCTGGGCTCTTCCTCAGGCCCAATCTCTGCTAGAAGAAAGCTGGTCTCTTGCCATCAGTGCCCCATGTCCTCTTTGGGGCTCAGAAGGTCCTATATTCTCTACCTGGAAGATAGAATGACCAAATTCCACACATTTATCAAGACCTCCTAGGTTAAAGCCCCTCTGAGAAGCCTTCTCTGATATCTCTAGAACACAACGTCTCCCTGGCTTTCTGAATCCCCCTGGCATTTATAGCCTAAGCTACATATGTTTTTGTGT
|
ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCTAATTAAGCAAGCGACCCTAATACCGGATGGAGAATTTGAGAATTATTTTAAAGCCACCCAGCTAATTCCATTGCGCACTAAGGCAGGGGTCAGTCAAGAAGACAGCTTTGTGGGCGTGTGCTTGTAAATGTAGTACAAAAATATAGTCAGTCTGAGTCCAGGCCACGTATAGTCACGCTGTATTCCTCAAATGCCCAGGAGCGCGCCTCCAGCTTAGCGCACTACCGGGTGACCCGGCCAGAGTCTCCTGCTCCCGGCTCCTCGCAGCTGCGCCGCAGGCTCCAGCCCTGCCCCCGCTGCGCTAATGACCGGAAAGCCCGCCTGAGCCCGCCGCCTTCCACGCTATCCCTGGAAACAGCCTGGTGGCAGGAGAGGGCCCACAGAGCCTCGAAGGCAGAGAACTTTTATTCCCCCCGCCGAAGAGTTTCCCTCTGCGATTGATTTACAATCTGTAACATACAAAGACAGGGCTGGAATCCCAGCCGTCGGAAACGTGCCCAAACACGTGGAAAAAAAAATCCTCTCTACCTAATACACTTTCCAGGCTTCGTTTGTCCTGAATATAATCCCAGACAGTGGACCTTACCAAAGGAGGGGTAGAAAGGTGCAGTCCGAACAGCATTTGGACCCGACTACAAGAGCCATCTCTAACTATACCGGTTGAAATAGTTGTAGCAACCGTAGCAATCGACCAGCCTGCTCCCCTTCCCTGACACACACATACACACACACACACGCACACACACACACACCACGCAGCCTGGCTCGGTGAGTTCCAGAATTTAGAAAAGTAACTCATTGTAGTACCTCGGGGCGGCGGGGAATGGGGTAAGACCGCGGGGAAGGGGGCGCTATTTTCGGGGGCATTTGAAAAGCACGGTCTGGTTGGAATGTTATCGTCTTTCAGATGGCCTCTCCTACTGGAAGTTTCTGTACCCTTTATCAGAAGAGAGGCGCAGGCGGACGGAGGGAAGTCGAGATGAGCGCTAGGGCTGCACCTTGCTCCAGGGCCAGCTGGGAGGGGGAGGGTACCCTAAAGAGGCGCTGAGGTCTCAGAGGGCCTATCGGAAGCCGTTCTTTGTGGCCTGGGATTTCAGCCCACCAGTGTCAGAGTGTTAGTCCCCTTTGTCTAACTCTGCTTTGAGCCCACCAGCCACCAAGCCTTGGACAGGCTGTGAAGTCAACCCTTTGGCGTTTGCTTGCTCCCTCGCTCGCGCTCTCTCTTTCCTACTTCACCTAAGTTCGATGAGTTGAGATCTGTTTTTGCTGAACTCGAAGTGCTTCGAAGAGGCGAGCTGTGTGCATGTGCGCCTAATTATCAAAGCTGGTGGAAAAGAGCCCATTTATATCTGTGCGCAAACTTCTCCGAGCCAACACTTTGCAAGTTCAGTATTCTAGCGCAACGTAGGGACCTGCAAATACTTGCAACTGCGATGGGCACCGAGGACCCTGGGACAGAGTCCTTGATTGGCAGAACTCTTCTTGGTGAACTTCTGCGTGTCCTGTGCCTAAGTCGGCGCGCTACGACCCCGGGAGCCGTTTTAGCCCGGAGCCGCGGGCTCCAGAGCTGGAGCGGGCCGGGGAGAAGGATGCTGAGGGACGCATGGAAAGCAGGCAGGCAGGCAGGGGCGGGGGAAGACTTACGGACATCCTGGCCCTGACACCGAAGGACAGCGGCGACGAGCAGCGTCAGCAGCACCAGCGTCTGGGGAGCCCCGAGGCGAATCACGGCTCACCGCGGGGCCTGGCTGAGCCGGGCCCGGGCGGAGCGCAGCGAAACGGCAGGAGCACGGCGCGGGTCCGGGTCTCTACCGCGCCCTCATGCAGGAGGCCCTTGGAGCAGGAGGGGGAAGCGGGAGACCCGGCAGCCCAGCAGCGCTCTGCGTCTTCTCCCCGCCGCGGCGCCCGTTATATGCGCCCGGCCCCTTTCGAGGCTGGCGAACTCGCCCAAACCGCGGGCCGCCCCCTGCCCCCCGCTGGGCTGTAACCTGAACCGCCCGCCCCCGGAGCCCGCCTGGGCCCTGCCAGTGCCCGCACCTGCCCAAGCCGGACCCCCCTCTCTGGGAGTCACGCTTCCCGCCCTCCACCCCTAGTGCGCCGAGTGGCCTGATCGGGCGGGGCGCAGAGATGGCCCCTGCCCCCCAAACCCGGGGCTGCGGCGCTGCCCCCCTCTGACCACAGGCGGGAAGGGTGGCCTCCGGCCCCTCCCCTCGGAGTTCTGCCGGAGTTGGAGGGGAGGGGGTGTTTGCAGAGGCGCAGGCCGAGAGCCCTAGACCAAGGACGGAAAAGACATGGGAGGGAGGAGGGAAAGCGGTAGAAAGGAGCAGCGGAGGGCGAGGGGGCACCGCGTCAGGCGTTTGGGAGTGGGGACAGGGAGGAGCCCACAGAGATTCAGAGTCCTAAATCTTGGAGACAGGCTAGCTGAGCCAGATCTGAAGGGTTACCCCGACCTATCTTTTAGCCCTTCCCTGCAGTACCTGGTCCCCAGACTCCCACCTGGACGTTCACAGCGACTGCCCTCCACCCCTCCCCCATCCAGCTCTGCGTTGAAGGCTTCCTCTGGAGCACAGGCCGAAGTTGGCCTGAGCCGACAGCCAGGAAAAGAGCTGGTGTGTTACTGCACAGAAGGAGACCTGTGTGAAGGTGTGGGGGGCAGGGGCAGGCCCTGGGAAGGGGACTGAAAGAGCCACAGAGGACGGAGGGAGCCGAGACTAAACGGTGCAAGCTGCCTGCTGTGGGGGGACTGTCTAGCTCCAGGCTCAGACGTGGTGTCTGCTCTTCCTGGCTGGGGTCCGGGAGTCCCCCGGGGAGTGGGCACTGCCGGCCGTCGTAGAGCAGCTTTGGCCAGGGACGGTTGGTCACTGCTGCGGCCCTGGCCAGGGATCGGGGAGGCCGATCCAGCTGGCGAGTTCTGTGAGCCGGGGAGAAGCGCCAGAATTTCCCAGTCGGCCCCCTAGCCCTCCGCTTGCCGCCTCACCTCACCTTCCCCGGTGAGCGCCCTCTCTCACCTTAGCCAAACTGCCTTCTTCCCAGGGCTTAGCTGGTCTCTTCTCTTGGTCTCCGGTGCCTCCTTTCATACCAGGGAGGAAACGTCCCCAAACAGACCTTCCTTTTGAGCGATATGGTCCCCCAAAGAACTATAGGCAAAATGAAACTCAGAATTTGGGGTCTGACTTAACCAGAACTTCTGCCCTCCTGGGCAGTTTTGTTTCTCTGGAGCTTTCCCCCTAGAAGCTGAGAGCACTTGAAAGAAGCTACTTCTGGGCCTTAGGCTTCCACCAGGGGTCCTGGGACCCCATCCCTAGCCTATCATGCTTTGACACTTGTCCTGGTAGAGGCTGGAGTTCCAAGTGCTCTGGTTGGAAAGGGAAAGAACTCATTGTTGAAGGAAATGCTTCTAGGCTTTGTCCAGTCTGGATGGAGATGGGGAAGAATTCAACCAGTTTCCAGCATCTCCCCTACCTTCCACGGGCCTTGTCTGAGTCTCCATGCTCCCATTCAGGGGCTTGCATTAAGCTCTGGGCTCTTCCTCAGGCCCAATCTCTGCTAGAAGAAAGCTGGTCTCTTGCCATCAGTGCCCCATGTCCTCTTTGGGGCTCAGAAGGTCCTATATTCTCTACCTGGAAGATAGAATGACCAAATTCCACACATTTATCAAGACCTCCTAGGTTAAAGCCCCTCTGAGAAGCCTTCTCTGATATCTCTAGAACACAACGTCTCCCTGGCTTTCTGAATCCCCCTGGCATTTATAGCCTAAGCTACATATGTTTTTGTGT
|
Task1_train_17525
|
A sequence alteration has been identified in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it disease-inducing or harmless?
|
Pathogenic; Spondyloepiphyseal dysplasia, Stanescu type
|
ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCTAATTAAGCAAGCGACCCTAATACCGGATGGAGAATTTGAGAATTATTTTAAAGCCACCCAGCTAATTCCATTGCGCACTAAGGCAGGGGTCAGTCAAGAAGACAGCTTTGTGGGCGTGTGCTTGTAAATGTAGTACAAAAATATAGTCAGTCTGAGTCCAGGCCACGTATAGTCACGCTGTATTCCTCAAATGCCCAGGAGCGCGCCTCCAGCTTAGCGCACTACCGGGTGACCCGGCCAGAGTCTCCTGCTCCCGGCTCCTCGCAGCTGCGCCGCAGGCTCCAGCCCTGCCCCCGCTGCGCTAATGACCGGAAAGCCCGCCTGAGCCCGCCGCCTTCCACGCTATCCCTGGAAACAGCCTGGTGGCAGGAGAGGGCCCACAGAGCCTCGAAGGCAGAGAACTTTTATTCCCCCCGCCGAAGAGTTTCCCTCTGCGATTGATTTACAATCTGTAACATACAAAGACAGGGCTGGAATCCCAGCCGTCGGAAACGTGCCCAAACACGTGGAAAAAAAAATCCTCTCTACCTAATACACTTTCCAGGCTTCGTTTGTCCTGAATATAATCCCAGACAGTGGACCTTACCAAAGGAGGGGTAGAAAGGTGCAGTCCGAACAGCATTTGGACCCGACTACAAGAGCCATCTCTAACTATACCGGTTGAAATAGTTGTAGCAACCGTAGCAATCGACCAGCCTGCTCCCCTTCCCTGACACACACATACACACACACACACGCACACACACACACACCACGCAGCCTGGCTCGGTGAGTTCCAGAATTTAGAAAAGTAACTCATTGTAGTACCTCGGGGCGGCGGGGAATGGGGTAAGACCGCGGGGAAGGGGGCGCTATTTTCGGGGGCATTTGAAAAGCACGGTCTGGTTGGAATGTTATCGTCTTTCAGATGGCCTCTCCTACTGGAAGTTTCTGTACCCTTTATCAGAAGAGAGGCGCAGGCGGACGGAGGGAAGTCGAGATGAGCGCTAGGGCTGCACCTTGCTCCAGGGCCAGCTGGGAGGGGGAGGGTACCCTAAAGAGGCGCTGAGGTCTCAGAGGGCCTATCGGAAGCCGTTCTTTGTGGCCTGGGATTTCAGCCCACCAGTGTCAGAGTGTTAGTCCCCTTTGTCTAACTCTGCTTTGAGCCCACCAGCCACCAAGCCTTGGACAGGCTGTGAAGTCAACCCTTTGGCGTTTGCTTGCTCCCTCGCTCGCGCTCTCTCTTTCCTACTTCACCTAAGTTCGATGAGTTGAGATCTGTTTTTGCTGAACTCGAAGTGCTTCGAAGAGGCGAGCTGTGTGCATGTGCGCCTAATTATCAAAGCTGGTGGAAAAGAGCCCATTTATATCTGTGCGCAAACTTCTCCGAGCCAACACTTTGCAAGTTCAGTATTCTAGCGCAACGTAGGGACCTGCAAATACTTGCAACTGCGATGGGCACCGAGGACCCTGGGACAGAGTCCTTGATTGGCAGAACTCTTCTTGGTGAACTTCTGCGTGTCCTGTGCCTAAGTCGGCGCGCTACGACCCCGGGAGCCGTTTTAGCCCGGAGCCGCGGGCTCCAGAGCTGGAGCGGGCCGGGGAGAAGGATGCTGAGGGACGCATGGAAAGCAGGCAGGCAGGCAGGGGCGGGGGAAGACTTACGGACATCCTGGCCCTGACACCGAAGGACAGCGGCGACGAGCAGCGTCAGCAGCACCAGCGTCTGGGGAGCCCCGAGGCGAATCATGGCTCACCGCGGGGCCTGGCTGAGCCGGGCCCGGGCGGAGCGCAGCGAAACGGCAGGAGCACGGCGCGGGTCCGGGTCTCTACCGCGCCCTCATGCAGGAGGCCCTTGGAGCAGGAGGGGGAAGCGGGAGACCCGGCAGCCCAGCAGCGCTCTGCGTCTTCTCCCCGCCGCGGCGCCCGTTATATGCGCCCGGCCCCTTTCGAGGCTGGCGAACTCGCCCAAACCGCGGGCCGCCCCCTGCCCCCCGCTGGGCTGTAACCTGAACCGCCCGCCCCCGGAGCCCGCCTGGGCCCTGCCAGTGCCCGCACCTGCCCAAGCCGGACCCCCCTCTCTGGGAGTCACGCTTCCCGCCCTCCACCCCTAGTGCGCCGAGTGGCCTGATCGGGCGGGGCGCAGAGATGGCCCCTGCCCCCCAAACCCGGGGCTGCGGCGCTGCCCCCCTCTGACCACAGGCGGGAAGGGTGGCCTCCGGCCCCTCCCCTCGGAGTTCTGCCGGAGTTGGAGGGGAGGGGGTGTTTGCAGAGGCGCAGGCCGAGAGCCCTAGACCAAGGACGGAAAAGACATGGGAGGGAGGAGGGAAAGCGGTAGAAAGGAGCAGCGGAGGGCGAGGGGGCACCGCGTCAGGCGTTTGGGAGTGGGGACAGGGAGGAGCCCACAGAGATTCAGAGTCCTAAATCTTGGAGACAGGCTAGCTGAGCCAGATCTGAAGGGTTACCCCGACCTATCTTTTAGCCCTTCCCTGCAGTACCTGGTCCCCAGACTCCCACCTGGACGTTCACAGCGACTGCCCTCCACCCCTCCCCCATCCAGCTCTGCGTTGAAGGCTTCCTCTGGAGCACAGGCCGAAGTTGGCCTGAGCCGACAGCCAGGAAAAGAGCTGGTGTGTTACTGCACAGAAGGAGACCTGTGTGAAGGTGTGGGGGGCAGGGGCAGGCCCTGGGAAGGGGACTGAAAGAGCCACAGAGGACGGAGGGAGCCGAGACTAAACGGTGCAAGCTGCCTGCTGTGGGGGGACTGTCTAGCTCCAGGCTCAGACGTGGTGTCTGCTCTTCCTGGCTGGGGTCCGGGAGTCCCCCGGGGAGTGGGCACTGCCGGCCGTCGTAGAGCAGCTTTGGCCAGGGACGGTTGGTCACTGCTGCGGCCCTGGCCAGGGATCGGGGAGGCCGATCCAGCTGGCGAGTTCTGTGAGCCGGGGAGAAGCGCCAGAATTTCCCAGTCGGCCCCCTAGCCCTCCGCTTGCCGCCTCACCTCACCTTCCCCGGTGAGCGCCCTCTCTCACCTTAGCCAAACTGCCTTCTTCCCAGGGCTTAGCTGGTCTCTTCTCTTGGTCTCCGGTGCCTCCTTTCATACCAGGGAGGAAACGTCCCCAAACAGACCTTCCTTTTGAGCGATATGGTCCCCCAAAGAACTATAGGCAAAATGAAACTCAGAATTTGGGGTCTGACTTAACCAGAACTTCTGCCCTCCTGGGCAGTTTTGTTTCTCTGGAGCTTTCCCCCTAGAAGCTGAGAGCACTTGAAAGAAGCTACTTCTGGGCCTTAGGCTTCCACCAGGGGTCCTGGGACCCCATCCCTAGCCTATCATGCTTTGACACTTGTCCTGGTAGAGGCTGGAGTTCCAAGTGCTCTGGTTGGAAAGGGAAAGAACTCATTGTTGAAGGAAATGCTTCTAGGCTTTGTCCAGTCTGGATGGAGATGGGGAAGAATTCAACCAGTTTCCAGCATCTCCCCTACCTTCCACGGGCCTTGTCTGAGTCTCCATGCTCCCATTCAGGGGCTTGCATTAAGCTCTGGGCTCTTCCTCAGGCCCAATCTCTGCTAGAAGAAAGCTGGTCTCTTGCCATCAGTGCCCCATGTCCTCTTTGGGGCTCAGAAGGTCCTATATTCTCTACCTGGAAGATAGAATGACCAAATTCCACACATTTATCAAGACCTCCTAGGTTAAAGCCCCTCTGAGAAGCCTTCTCTGATATCTCTAGAACACAACGTCTCCCTGGCTTTCTGAATCCCCCTGGCATTTATAGCCTAAGCTACATATGTTTTTGTGT
|
ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCTAATTAAGCAAGCGACCCTAATACCGGATGGAGAATTTGAGAATTATTTTAAAGCCACCCAGCTAATTCCATTGCGCACTAAGGCAGGGGTCAGTCAAGAAGACAGCTTTGTGGGCGTGTGCTTGTAAATGTAGTACAAAAATATAGTCAGTCTGAGTCCAGGCCACGTATAGTCACGCTGTATTCCTCAAATGCCCAGGAGCGCGCCTCCAGCTTAGCGCACTACCGGGTGACCCGGCCAGAGTCTCCTGCTCCCGGCTCCTCGCAGCTGCGCCGCAGGCTCCAGCCCTGCCCCCGCTGCGCTAATGACCGGAAAGCCCGCCTGAGCCCGCCGCCTTCCACGCTATCCCTGGAAACAGCCTGGTGGCAGGAGAGGGCCCACAGAGCCTCGAAGGCAGAGAACTTTTATTCCCCCCGCCGAAGAGTTTCCCTCTGCGATTGATTTACAATCTGTAACATACAAAGACAGGGCTGGAATCCCAGCCGTCGGAAACGTGCCCAAACACGTGGAAAAAAAAATCCTCTCTACCTAATACACTTTCCAGGCTTCGTTTGTCCTGAATATAATCCCAGACAGTGGACCTTACCAAAGGAGGGGTAGAAAGGTGCAGTCCGAACAGCATTTGGACCCGACTACAAGAGCCATCTCTAACTATACCGGTTGAAATAGTTGTAGCAACCGTAGCAATCGACCAGCCTGCTCCCCTTCCCTGACACACACATACACACACACACACGCACACACACACACACCACGCAGCCTGGCTCGGTGAGTTCCAGAATTTAGAAAAGTAACTCATTGTAGTACCTCGGGGCGGCGGGGAATGGGGTAAGACCGCGGGGAAGGGGGCGCTATTTTCGGGGGCATTTGAAAAGCACGGTCTGGTTGGAATGTTATCGTCTTTCAGATGGCCTCTCCTACTGGAAGTTTCTGTACCCTTTATCAGAAGAGAGGCGCAGGCGGACGGAGGGAAGTCGAGATGAGCGCTAGGGCTGCACCTTGCTCCAGGGCCAGCTGGGAGGGGGAGGGTACCCTAAAGAGGCGCTGAGGTCTCAGAGGGCCTATCGGAAGCCGTTCTTTGTGGCCTGGGATTTCAGCCCACCAGTGTCAGAGTGTTAGTCCCCTTTGTCTAACTCTGCTTTGAGCCCACCAGCCACCAAGCCTTGGACAGGCTGTGAAGTCAACCCTTTGGCGTTTGCTTGCTCCCTCGCTCGCGCTCTCTCTTTCCTACTTCACCTAAGTTCGATGAGTTGAGATCTGTTTTTGCTGAACTCGAAGTGCTTCGAAGAGGCGAGCTGTGTGCATGTGCGCCTAATTATCAAAGCTGGTGGAAAAGAGCCCATTTATATCTGTGCGCAAACTTCTCCGAGCCAACACTTTGCAAGTTCAGTATTCTAGCGCAACGTAGGGACCTGCAAATACTTGCAACTGCGATGGGCACCGAGGACCCTGGGACAGAGTCCTTGATTGGCAGAACTCTTCTTGGTGAACTTCTGCGTGTCCTGTGCCTAAGTCGGCGCGCTACGACCCCGGGAGCCGTTTTAGCCCGGAGCCGCGGGCTCCAGAGCTGGAGCGGGCCGGGGAGAAGGATGCTGAGGGACGCATGGAAAGCAGGCAGGCAGGCAGGGGCGGGGGAAGACTTACGGACATCCTGGCCCTGACACCGAAGGACAGCGGCGACGAGCAGCGTCAGCAGCACCAGCGTCTGGGGAGCCCCGAGGCGAATCACGGCTCACCGCGGGGCCTGGCTGAGCCGGGCCCGGGCGGAGCGCAGCGAAACGGCAGGAGCACGGCGCGGGTCCGGGTCTCTACCGCGCCCTCATGCAGGAGGCCCTTGGAGCAGGAGGGGGAAGCGGGAGACCCGGCAGCCCAGCAGCGCTCTGCGTCTTCTCCCCGCCGCGGCGCCCGTTATATGCGCCCGGCCCCTTTCGAGGCTGGCGAACTCGCCCAAACCGCGGGCCGCCCCCTGCCCCCCGCTGGGCTGTAACCTGAACCGCCCGCCCCCGGAGCCCGCCTGGGCCCTGCCAGTGCCCGCACCTGCCCAAGCCGGACCCCCCTCTCTGGGAGTCACGCTTCCCGCCCTCCACCCCTAGTGCGCCGAGTGGCCTGATCGGGCGGGGCGCAGAGATGGCCCCTGCCCCCCAAACCCGGGGCTGCGGCGCTGCCCCCCTCTGACCACAGGCGGGAAGGGTGGCCTCCGGCCCCTCCCCTCGGAGTTCTGCCGGAGTTGGAGGGGAGGGGGTGTTTGCAGAGGCGCAGGCCGAGAGCCCTAGACCAAGGACGGAAAAGACATGGGAGGGAGGAGGGAAAGCGGTAGAAAGGAGCAGCGGAGGGCGAGGGGGCACCGCGTCAGGCGTTTGGGAGTGGGGACAGGGAGGAGCCCACAGAGATTCAGAGTCCTAAATCTTGGAGACAGGCTAGCTGAGCCAGATCTGAAGGGTTACCCCGACCTATCTTTTAGCCCTTCCCTGCAGTACCTGGTCCCCAGACTCCCACCTGGACGTTCACAGCGACTGCCCTCCACCCCTCCCCCATCCAGCTCTGCGTTGAAGGCTTCCTCTGGAGCACAGGCCGAAGTTGGCCTGAGCCGACAGCCAGGAAAAGAGCTGGTGTGTTACTGCACAGAAGGAGACCTGTGTGAAGGTGTGGGGGGCAGGGGCAGGCCCTGGGAAGGGGACTGAAAGAGCCACAGAGGACGGAGGGAGCCGAGACTAAACGGTGCAAGCTGCCTGCTGTGGGGGGACTGTCTAGCTCCAGGCTCAGACGTGGTGTCTGCTCTTCCTGGCTGGGGTCCGGGAGTCCCCCGGGGAGTGGGCACTGCCGGCCGTCGTAGAGCAGCTTTGGCCAGGGACGGTTGGTCACTGCTGCGGCCCTGGCCAGGGATCGGGGAGGCCGATCCAGCTGGCGAGTTCTGTGAGCCGGGGAGAAGCGCCAGAATTTCCCAGTCGGCCCCCTAGCCCTCCGCTTGCCGCCTCACCTCACCTTCCCCGGTGAGCGCCCTCTCTCACCTTAGCCAAACTGCCTTCTTCCCAGGGCTTAGCTGGTCTCTTCTCTTGGTCTCCGGTGCCTCCTTTCATACCAGGGAGGAAACGTCCCCAAACAGACCTTCCTTTTGAGCGATATGGTCCCCCAAAGAACTATAGGCAAAATGAAACTCAGAATTTGGGGTCTGACTTAACCAGAACTTCTGCCCTCCTGGGCAGTTTTGTTTCTCTGGAGCTTTCCCCCTAGAAGCTGAGAGCACTTGAAAGAAGCTACTTCTGGGCCTTAGGCTTCCACCAGGGGTCCTGGGACCCCATCCCTAGCCTATCATGCTTTGACACTTGTCCTGGTAGAGGCTGGAGTTCCAAGTGCTCTGGTTGGAAAGGGAAAGAACTCATTGTTGAAGGAAATGCTTCTAGGCTTTGTCCAGTCTGGATGGAGATGGGGAAGAATTCAACCAGTTTCCAGCATCTCCCCTACCTTCCACGGGCCTTGTCTGAGTCTCCATGCTCCCATTCAGGGGCTTGCATTAAGCTCTGGGCTCTTCCTCAGGCCCAATCTCTGCTAGAAGAAAGCTGGTCTCTTGCCATCAGTGCCCCATGTCCTCTTTGGGGCTCAGAAGGTCCTATATTCTCTACCTGGAAGATAGAATGACCAAATTCCACACATTTATCAAGACCTCCTAGGTTAAAGCCCCTCTGAGAAGCCTTCTCTGATATCTCTAGAACACAACGTCTCCCTGGCTTTCTGAATCCCCCTGGCATTTATAGCCTAAGCTACATATGTTTTTGTGT
|
Task1_train_17526
|
This variant impacts the gene COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; Stickler syndrome type 1
|
ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCTAATTAAGCAAGCGACCCTAATACCGGATGGAGAATTTGAGAATTATTTTAAAGCCACCCAGCTAATTCCATTGCGCACTAAGGCAGGGGTCAGTCAAGAAGACAGCTTTGTGGGCGTGTGCTTGTAAATGTAGTACAAAAATATAGTCAGTCTGAGTCCAGGCCACGTATAGTCACGCTGTATTCCTCAAATGCCCAGGAGCGCGCCTCCAGCTTAGCGCACTACCGGGTGACCCGGCCAGAGTCTCCTGCTCCCGGCTCCTCGCAGCTGCGCCGCAGGCTCCAGCCCTGCCCCCGCTGCGCTAATGACCGGAAAGCCCGCCTGAGCCCGCCGCCTTCCACGCTATCCCTGGAAACAGCCTGGTGGCAGGAGAGGGCCCACAGAGCCTCGAAGGCAGAGAACTTTTATTCCCCCCGCCGAAGAGTTTCCCTCTGCGATTGATTTACAATCTGTAACATACAAAGACAGGGCTGGAATCCCAGCCGTCGGAAACGTGCCCAAACACGTGGAAAAAAAAATCCTCTCTACCTAATACACTTTCCAGGCTTCGTTTGTCCTGAATATAATCCCAGACAGTGGACCTTACCAAAGGAGGGGTAGAAAGGTGCAGTCCGAACAGCATTTGGACCCGACTACAAGAGCCATCTCTAACTATACCGGTTGAAATAGTTGTAGCAACCGTAGCAATCGACCAGCCTGCTCCCCTTCCCTGACACACACATACACACACACACACGCACACACACACACACCACGCAGCCTGGCTCGGTGAGTTCCAGAATTTAGAAAAGTAACTCATTGTAGTACCTCGGGGCGGCGGGGAATGGGGTAAGACCGCGGGGAAGGGGGCGCTATTTTCGGGGGCATTTGAAAAGCACGGTCTGGTTGGAATGTTATCGTCTTTCAGATGGCCTCTCCTACTGGAAGTTTCTGTACCCTTTATCAGAAGAGAGGCGCAGGCGGACGGAGGGAAGTCGAGATGAGCGCTAGGGCTGCACCTTGCTCCAGGGCCAGCTGGGAGGGGGAGGGTACCCTAAAGAGGCGCTGAGGTCTCAGAGGGCCTATCGGAAGCCGTTCTTTGTGGCCTGGGATTTCAGCCCACCAGTGTCAGAGTGTTAGTCCCCTTTGTCTAACTCTGCTTTGAGCCCACCAGCCACCAAGCCTTGGACAGGCTGTGAAGTCAACCCTTTGGCGTTTGCTTGCTCCCTCGCTCGCGCTCTCTCTTTCCTACTTCACCTAAGTTCGATGAGTTGAGATCTGTTTTTGCTGAACTCGAAGTGCTTCGAAGAGGCGAGCTGTGTGCATGTGCGCCTAATTATCAAAGCTGGTGGAAAAGAGCCCATTTATATCTGTGCGCAAACTTCTCCGAGCCAACACTTTGCAAGTTCAGTATTCTAGCGCAACGTAGGGACCTGCAAATACTTGCAACTGCGATGGGCACCGAGGACCCTGGGACAGAGTCCTTGATTGGCAGAACTCTTCTTGGTGAACTTCTGCGTGTCCTGTGCCTAAGTCGGCGCGCTACGACCCCGGGAGCCGTTTTAGCCCGGAGCCGCGGGCTCCAGAGCTGGAGCGGGCCGGGGAGAAGGATGCTGAGGGACGCATGGAAAGCAGGCAGGCAGGCAGGGGCGGGGGAAGACTTACGGACATCCTGGCCCTGACACCGAAGGACAGCGGCGACGAGCAGCGTCAGCAGCACCAGCGTCTGGGGAGCCCCGAGGCGAATCATGGCTCACCGCGGGGCCTGGCTGAGCCGGGCCCGGGCGGAGCGCAGCGAAACGGCAGGAGCACGGCGCGGGTCCGGGTCTCTACCGCGCCCTCATGCAGGAGGCCCTTGGAGCAGGAGGGGGAAGCGGGAGACCCGGCAGCCCAGCAGCGCTCTGCGTCTTCTCCCCGCCGCGGCGCCCGTTATATGCGCCCGGCCCCTTTCGAGGCTGGCGAACTCGCCCAAACCGCGGGCCGCCCCCTGCCCCCCGCTGGGCTGTAACCTGAACCGCCCGCCCCCGGAGCCCGCCTGGGCCCTGCCAGTGCCCGCACCTGCCCAAGCCGGACCCCCCTCTCTGGGAGTCACGCTTCCCGCCCTCCACCCCTAGTGCGCCGAGTGGCCTGATCGGGCGGGGCGCAGAGATGGCCCCTGCCCCCCAAACCCGGGGCTGCGGCGCTGCCCCCCTCTGACCACAGGCGGGAAGGGTGGCCTCCGGCCCCTCCCCTCGGAGTTCTGCCGGAGTTGGAGGGGAGGGGGTGTTTGCAGAGGCGCAGGCCGAGAGCCCTAGACCAAGGACGGAAAAGACATGGGAGGGAGGAGGGAAAGCGGTAGAAAGGAGCAGCGGAGGGCGAGGGGGCACCGCGTCAGGCGTTTGGGAGTGGGGACAGGGAGGAGCCCACAGAGATTCAGAGTCCTAAATCTTGGAGACAGGCTAGCTGAGCCAGATCTGAAGGGTTACCCCGACCTATCTTTTAGCCCTTCCCTGCAGTACCTGGTCCCCAGACTCCCACCTGGACGTTCACAGCGACTGCCCTCCACCCCTCCCCCATCCAGCTCTGCGTTGAAGGCTTCCTCTGGAGCACAGGCCGAAGTTGGCCTGAGCCGACAGCCAGGAAAAGAGCTGGTGTGTTACTGCACAGAAGGAGACCTGTGTGAAGGTGTGGGGGGCAGGGGCAGGCCCTGGGAAGGGGACTGAAAGAGCCACAGAGGACGGAGGGAGCCGAGACTAAACGGTGCAAGCTGCCTGCTGTGGGGGGACTGTCTAGCTCCAGGCTCAGACGTGGTGTCTGCTCTTCCTGGCTGGGGTCCGGGAGTCCCCCGGGGAGTGGGCACTGCCGGCCGTCGTAGAGCAGCTTTGGCCAGGGACGGTTGGTCACTGCTGCGGCCCTGGCCAGGGATCGGGGAGGCCGATCCAGCTGGCGAGTTCTGTGAGCCGGGGAGAAGCGCCAGAATTTCCCAGTCGGCCCCCTAGCCCTCCGCTTGCCGCCTCACCTCACCTTCCCCGGTGAGCGCCCTCTCTCACCTTAGCCAAACTGCCTTCTTCCCAGGGCTTAGCTGGTCTCTTCTCTTGGTCTCCGGTGCCTCCTTTCATACCAGGGAGGAAACGTCCCCAAACAGACCTTCCTTTTGAGCGATATGGTCCCCCAAAGAACTATAGGCAAAATGAAACTCAGAATTTGGGGTCTGACTTAACCAGAACTTCTGCCCTCCTGGGCAGTTTTGTTTCTCTGGAGCTTTCCCCCTAGAAGCTGAGAGCACTTGAAAGAAGCTACTTCTGGGCCTTAGGCTTCCACCAGGGGTCCTGGGACCCCATCCCTAGCCTATCATGCTTTGACACTTGTCCTGGTAGAGGCTGGAGTTCCAAGTGCTCTGGTTGGAAAGGGAAAGAACTCATTGTTGAAGGAAATGCTTCTAGGCTTTGTCCAGTCTGGATGGAGATGGGGAAGAATTCAACCAGTTTCCAGCATCTCCCCTACCTTCCACGGGCCTTGTCTGAGTCTCCATGCTCCCATTCAGGGGCTTGCATTAAGCTCTGGGCTCTTCCTCAGGCCCAATCTCTGCTAGAAGAAAGCTGGTCTCTTGCCATCAGTGCCCCATGTCCTCTTTGGGGCTCAGAAGGTCCTATATTCTCTACCTGGAAGATAGAATGACCAAATTCCACACATTTATCAAGACCTCCTAGGTTAAAGCCCCTCTGAGAAGCCTTCTCTGATATCTCTAGAACACAACGTCTCCCTGGCTTTCTGAATCCCCCTGGCATTTATAGCCTAAGCTACATATGTTTTTGTGT
|
ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCTAATTAAGCAAGCGACCCTAATACCGGATGGAGAATTTGAGAATTATTTTAAAGCCACCCAGCTAATTCCATTGCGCACTAAGGCAGGGGTCAGTCAAGAAGACAGCTTTGTGGGCGTGTGCTTGTAAATGTAGTACAAAAATATAGTCAGTCTGAGTCCAGGCCACGTATAGTCACGCTGTATTCCTCAAATGCCCAGGAGCGCGCCTCCAGCTTAGCGCACTACCGGGTGACCCGGCCAGAGTCTCCTGCTCCCGGCTCCTCGCAGCTGCGCCGCAGGCTCCAGCCCTGCCCCCGCTGCGCTAATGACCGGAAAGCCCGCCTGAGCCCGCCGCCTTCCACGCTATCCCTGGAAACAGCCTGGTGGCAGGAGAGGGCCCACAGAGCCTCGAAGGCAGAGAACTTTTATTCCCCCCGCCGAAGAGTTTCCCTCTGCGATTGATTTACAATCTGTAACATACAAAGACAGGGCTGGAATCCCAGCCGTCGGAAACGTGCCCAAACACGTGGAAAAAAAAATCCTCTCTACCTAATACACTTTCCAGGCTTCGTTTGTCCTGAATATAATCCCAGACAGTGGACCTTACCAAAGGAGGGGTAGAAAGGTGCAGTCCGAACAGCATTTGGACCCGACTACAAGAGCCATCTCTAACTATACCGGTTGAAATAGTTGTAGCAACCGTAGCAATCGACCAGCCTGCTCCCCTTCCCTGACACACACATACACACACACACACGCACACACACACACACCACGCAGCCTGGCTCGGTGAGTTCCAGAATTTAGAAAAGTAACTCATTGTAGTACCTCGGGGCGGCGGGGAATGGGGTAAGACCGCGGGGAAGGGGGCGCTATTTTCGGGGGCATTTGAAAAGCACGGTCTGGTTGGAATGTTATCGTCTTTCAGATGGCCTCTCCTACTGGAAGTTTCTGTACCCTTTATCAGAAGAGAGGCGCAGGCGGACGGAGGGAAGTCGAGATGAGCGCTAGGGCTGCACCTTGCTCCAGGGCCAGCTGGGAGGGGGAGGGTACCCTAAAGAGGCGCTGAGGTCTCAGAGGGCCTATCGGAAGCCGTTCTTTGTGGCCTGGGATTTCAGCCCACCAGTGTCAGAGTGTTAGTCCCCTTTGTCTAACTCTGCTTTGAGCCCACCAGCCACCAAGCCTTGGACAGGCTGTGAAGTCAACCCTTTGGCGTTTGCTTGCTCCCTCGCTCGCGCTCTCTCTTTCCTACTTCACCTAAGTTCGATGAGTTGAGATCTGTTTTTGCTGAACTCGAAGTGCTTCGAAGAGGCGAGCTGTGTGCATGTGCGCCTAATTATCAAAGCTGGTGGAAAAGAGCCCATTTATATCTGTGCGCAAACTTCTCCGAGCCAACACTTTGCAAGTTCAGTATTCTAGCGCAACGTAGGGACCTGCAAATACTTGCAACTGCGATGGGCACCGAGGACCCTGGGACAGAGTCCTTGATTGGCAGAACTCTTCTTGGTGAACTTCTGCGTGTCCTGTGCCTAAGTCGGCGCGCTACGACCCCGGGAGCCGTTTTAGCCCGGAGCCGCGGGCTCCAGAGCTGGAGCGGGCCGGGGAGAAGGATGCTGAGGGACGCATGGAAAGCAGGCAGGCAGGCAGGGGCGGGGGAAGACTTACGGACATCCTGGCCCTGACACCGAAGGACAGCGGCGACGAGCAGCGTCAGCAGCACCAGCGTCTGGGGAGCCCCGAGGCGAATCACGGCTCACCGCGGGGCCTGGCTGAGCCGGGCCCGGGCGGAGCGCAGCGAAACGGCAGGAGCACGGCGCGGGTCCGGGTCTCTACCGCGCCCTCATGCAGGAGGCCCTTGGAGCAGGAGGGGGAAGCGGGAGACCCGGCAGCCCAGCAGCGCTCTGCGTCTTCTCCCCGCCGCGGCGCCCGTTATATGCGCCCGGCCCCTTTCGAGGCTGGCGAACTCGCCCAAACCGCGGGCCGCCCCCTGCCCCCCGCTGGGCTGTAACCTGAACCGCCCGCCCCCGGAGCCCGCCTGGGCCCTGCCAGTGCCCGCACCTGCCCAAGCCGGACCCCCCTCTCTGGGAGTCACGCTTCCCGCCCTCCACCCCTAGTGCGCCGAGTGGCCTGATCGGGCGGGGCGCAGAGATGGCCCCTGCCCCCCAAACCCGGGGCTGCGGCGCTGCCCCCCTCTGACCACAGGCGGGAAGGGTGGCCTCCGGCCCCTCCCCTCGGAGTTCTGCCGGAGTTGGAGGGGAGGGGGTGTTTGCAGAGGCGCAGGCCGAGAGCCCTAGACCAAGGACGGAAAAGACATGGGAGGGAGGAGGGAAAGCGGTAGAAAGGAGCAGCGGAGGGCGAGGGGGCACCGCGTCAGGCGTTTGGGAGTGGGGACAGGGAGGAGCCCACAGAGATTCAGAGTCCTAAATCTTGGAGACAGGCTAGCTGAGCCAGATCTGAAGGGTTACCCCGACCTATCTTTTAGCCCTTCCCTGCAGTACCTGGTCCCCAGACTCCCACCTGGACGTTCACAGCGACTGCCCTCCACCCCTCCCCCATCCAGCTCTGCGTTGAAGGCTTCCTCTGGAGCACAGGCCGAAGTTGGCCTGAGCCGACAGCCAGGAAAAGAGCTGGTGTGTTACTGCACAGAAGGAGACCTGTGTGAAGGTGTGGGGGGCAGGGGCAGGCCCTGGGAAGGGGACTGAAAGAGCCACAGAGGACGGAGGGAGCCGAGACTAAACGGTGCAAGCTGCCTGCTGTGGGGGGACTGTCTAGCTCCAGGCTCAGACGTGGTGTCTGCTCTTCCTGGCTGGGGTCCGGGAGTCCCCCGGGGAGTGGGCACTGCCGGCCGTCGTAGAGCAGCTTTGGCCAGGGACGGTTGGTCACTGCTGCGGCCCTGGCCAGGGATCGGGGAGGCCGATCCAGCTGGCGAGTTCTGTGAGCCGGGGAGAAGCGCCAGAATTTCCCAGTCGGCCCCCTAGCCCTCCGCTTGCCGCCTCACCTCACCTTCCCCGGTGAGCGCCCTCTCTCACCTTAGCCAAACTGCCTTCTTCCCAGGGCTTAGCTGGTCTCTTCTCTTGGTCTCCGGTGCCTCCTTTCATACCAGGGAGGAAACGTCCCCAAACAGACCTTCCTTTTGAGCGATATGGTCCCCCAAAGAACTATAGGCAAAATGAAACTCAGAATTTGGGGTCTGACTTAACCAGAACTTCTGCCCTCCTGGGCAGTTTTGTTTCTCTGGAGCTTTCCCCCTAGAAGCTGAGAGCACTTGAAAGAAGCTACTTCTGGGCCTTAGGCTTCCACCAGGGGTCCTGGGACCCCATCCCTAGCCTATCATGCTTTGACACTTGTCCTGGTAGAGGCTGGAGTTCCAAGTGCTCTGGTTGGAAAGGGAAAGAACTCATTGTTGAAGGAAATGCTTCTAGGCTTTGTCCAGTCTGGATGGAGATGGGGAAGAATTCAACCAGTTTCCAGCATCTCCCCTACCTTCCACGGGCCTTGTCTGAGTCTCCATGCTCCCATTCAGGGGCTTGCATTAAGCTCTGGGCTCTTCCTCAGGCCCAATCTCTGCTAGAAGAAAGCTGGTCTCTTGCCATCAGTGCCCCATGTCCTCTTTGGGGCTCAGAAGGTCCTATATTCTCTACCTGGAAGATAGAATGACCAAATTCCACACATTTATCAAGACCTCCTAGGTTAAAGCCCCTCTGAGAAGCCTTCTCTGATATCTCTAGAACACAACGTCTCCCTGGCTTTCTGAATCCCCCTGGCATTTATAGCCTAAGCTACATATGTTTTTGTGT
|
Task1_train_17527
|
An alteration has been detected in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Vitreoretinopathy with phalangeal epiphyseal dysplasia
|
ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCTAATTAAGCAAGCGACCCTAATACCGGATGGAGAATTTGAGAATTATTTTAAAGCCACCCAGCTAATTCCATTGCGCACTAAGGCAGGGGTCAGTCAAGAAGACAGCTTTGTGGGCGTGTGCTTGTAAATGTAGTACAAAAATATAGTCAGTCTGAGTCCAGGCCACGTATAGTCACGCTGTATTCCTCAAATGCCCAGGAGCGCGCCTCCAGCTTAGCGCACTACCGGGTGACCCGGCCAGAGTCTCCTGCTCCCGGCTCCTCGCAGCTGCGCCGCAGGCTCCAGCCCTGCCCCCGCTGCGCTAATGACCGGAAAGCCCGCCTGAGCCCGCCGCCTTCCACGCTATCCCTGGAAACAGCCTGGTGGCAGGAGAGGGCCCACAGAGCCTCGAAGGCAGAGAACTTTTATTCCCCCCGCCGAAGAGTTTCCCTCTGCGATTGATTTACAATCTGTAACATACAAAGACAGGGCTGGAATCCCAGCCGTCGGAAACGTGCCCAAACACGTGGAAAAAAAAATCCTCTCTACCTAATACACTTTCCAGGCTTCGTTTGTCCTGAATATAATCCCAGACAGTGGACCTTACCAAAGGAGGGGTAGAAAGGTGCAGTCCGAACAGCATTTGGACCCGACTACAAGAGCCATCTCTAACTATACCGGTTGAAATAGTTGTAGCAACCGTAGCAATCGACCAGCCTGCTCCCCTTCCCTGACACACACATACACACACACACACGCACACACACACACACCACGCAGCCTGGCTCGGTGAGTTCCAGAATTTAGAAAAGTAACTCATTGTAGTACCTCGGGGCGGCGGGGAATGGGGTAAGACCGCGGGGAAGGGGGCGCTATTTTCGGGGGCATTTGAAAAGCACGGTCTGGTTGGAATGTTATCGTCTTTCAGATGGCCTCTCCTACTGGAAGTTTCTGTACCCTTTATCAGAAGAGAGGCGCAGGCGGACGGAGGGAAGTCGAGATGAGCGCTAGGGCTGCACCTTGCTCCAGGGCCAGCTGGGAGGGGGAGGGTACCCTAAAGAGGCGCTGAGGTCTCAGAGGGCCTATCGGAAGCCGTTCTTTGTGGCCTGGGATTTCAGCCCACCAGTGTCAGAGTGTTAGTCCCCTTTGTCTAACTCTGCTTTGAGCCCACCAGCCACCAAGCCTTGGACAGGCTGTGAAGTCAACCCTTTGGCGTTTGCTTGCTCCCTCGCTCGCGCTCTCTCTTTCCTACTTCACCTAAGTTCGATGAGTTGAGATCTGTTTTTGCTGAACTCGAAGTGCTTCGAAGAGGCGAGCTGTGTGCATGTGCGCCTAATTATCAAAGCTGGTGGAAAAGAGCCCATTTATATCTGTGCGCAAACTTCTCCGAGCCAACACTTTGCAAGTTCAGTATTCTAGCGCAACGTAGGGACCTGCAAATACTTGCAACTGCGATGGGCACCGAGGACCCTGGGACAGAGTCCTTGATTGGCAGAACTCTTCTTGGTGAACTTCTGCGTGTCCTGTGCCTAAGTCGGCGCGCTACGACCCCGGGAGCCGTTTTAGCCCGGAGCCGCGGGCTCCAGAGCTGGAGCGGGCCGGGGAGAAGGATGCTGAGGGACGCATGGAAAGCAGGCAGGCAGGCAGGGGCGGGGGAAGACTTACGGACATCCTGGCCCTGACACCGAAGGACAGCGGCGACGAGCAGCGTCAGCAGCACCAGCGTCTGGGGAGCCCCGAGGCGAATCATGGCTCACCGCGGGGCCTGGCTGAGCCGGGCCCGGGCGGAGCGCAGCGAAACGGCAGGAGCACGGCGCGGGTCCGGGTCTCTACCGCGCCCTCATGCAGGAGGCCCTTGGAGCAGGAGGGGGAAGCGGGAGACCCGGCAGCCCAGCAGCGCTCTGCGTCTTCTCCCCGCCGCGGCGCCCGTTATATGCGCCCGGCCCCTTTCGAGGCTGGCGAACTCGCCCAAACCGCGGGCCGCCCCCTGCCCCCCGCTGGGCTGTAACCTGAACCGCCCGCCCCCGGAGCCCGCCTGGGCCCTGCCAGTGCCCGCACCTGCCCAAGCCGGACCCCCCTCTCTGGGAGTCACGCTTCCCGCCCTCCACCCCTAGTGCGCCGAGTGGCCTGATCGGGCGGGGCGCAGAGATGGCCCCTGCCCCCCAAACCCGGGGCTGCGGCGCTGCCCCCCTCTGACCACAGGCGGGAAGGGTGGCCTCCGGCCCCTCCCCTCGGAGTTCTGCCGGAGTTGGAGGGGAGGGGGTGTTTGCAGAGGCGCAGGCCGAGAGCCCTAGACCAAGGACGGAAAAGACATGGGAGGGAGGAGGGAAAGCGGTAGAAAGGAGCAGCGGAGGGCGAGGGGGCACCGCGTCAGGCGTTTGGGAGTGGGGACAGGGAGGAGCCCACAGAGATTCAGAGTCCTAAATCTTGGAGACAGGCTAGCTGAGCCAGATCTGAAGGGTTACCCCGACCTATCTTTTAGCCCTTCCCTGCAGTACCTGGTCCCCAGACTCCCACCTGGACGTTCACAGCGACTGCCCTCCACCCCTCCCCCATCCAGCTCTGCGTTGAAGGCTTCCTCTGGAGCACAGGCCGAAGTTGGCCTGAGCCGACAGCCAGGAAAAGAGCTGGTGTGTTACTGCACAGAAGGAGACCTGTGTGAAGGTGTGGGGGGCAGGGGCAGGCCCTGGGAAGGGGACTGAAAGAGCCACAGAGGACGGAGGGAGCCGAGACTAAACGGTGCAAGCTGCCTGCTGTGGGGGGACTGTCTAGCTCCAGGCTCAGACGTGGTGTCTGCTCTTCCTGGCTGGGGTCCGGGAGTCCCCCGGGGAGTGGGCACTGCCGGCCGTCGTAGAGCAGCTTTGGCCAGGGACGGTTGGTCACTGCTGCGGCCCTGGCCAGGGATCGGGGAGGCCGATCCAGCTGGCGAGTTCTGTGAGCCGGGGAGAAGCGCCAGAATTTCCCAGTCGGCCCCCTAGCCCTCCGCTTGCCGCCTCACCTCACCTTCCCCGGTGAGCGCCCTCTCTCACCTTAGCCAAACTGCCTTCTTCCCAGGGCTTAGCTGGTCTCTTCTCTTGGTCTCCGGTGCCTCCTTTCATACCAGGGAGGAAACGTCCCCAAACAGACCTTCCTTTTGAGCGATATGGTCCCCCAAAGAACTATAGGCAAAATGAAACTCAGAATTTGGGGTCTGACTTAACCAGAACTTCTGCCCTCCTGGGCAGTTTTGTTTCTCTGGAGCTTTCCCCCTAGAAGCTGAGAGCACTTGAAAGAAGCTACTTCTGGGCCTTAGGCTTCCACCAGGGGTCCTGGGACCCCATCCCTAGCCTATCATGCTTTGACACTTGTCCTGGTAGAGGCTGGAGTTCCAAGTGCTCTGGTTGGAAAGGGAAAGAACTCATTGTTGAAGGAAATGCTTCTAGGCTTTGTCCAGTCTGGATGGAGATGGGGAAGAATTCAACCAGTTTCCAGCATCTCCCCTACCTTCCACGGGCCTTGTCTGAGTCTCCATGCTCCCATTCAGGGGCTTGCATTAAGCTCTGGGCTCTTCCTCAGGCCCAATCTCTGCTAGAAGAAAGCTGGTCTCTTGCCATCAGTGCCCCATGTCCTCTTTGGGGCTCAGAAGGTCCTATATTCTCTACCTGGAAGATAGAATGACCAAATTCCACACATTTATCAAGACCTCCTAGGTTAAAGCCCCTCTGAGAAGCCTTCTCTGATATCTCTAGAACACAACGTCTCCCTGGCTTTCTGAATCCCCCTGGCATTTATAGCCTAAGCTACATATGTTTTTGTGT
|
ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCTAATTAAGCAAGCGACCCTAATACCGGATGGAGAATTTGAGAATTATTTTAAAGCCACCCAGCTAATTCCATTGCGCACTAAGGCAGGGGTCAGTCAAGAAGACAGCTTTGTGGGCGTGTGCTTGTAAATGTAGTACAAAAATATAGTCAGTCTGAGTCCAGGCCACGTATAGTCACGCTGTATTCCTCAAATGCCCAGGAGCGCGCCTCCAGCTTAGCGCACTACCGGGTGACCCGGCCAGAGTCTCCTGCTCCCGGCTCCTCGCAGCTGCGCCGCAGGCTCCAGCCCTGCCCCCGCTGCGCTAATGACCGGAAAGCCCGCCTGAGCCCGCCGCCTTCCACGCTATCCCTGGAAACAGCCTGGTGGCAGGAGAGGGCCCACAGAGCCTCGAAGGCAGAGAACTTTTATTCCCCCCGCCGAAGAGTTTCCCTCTGCGATTGATTTACAATCTGTAACATACAAAGACAGGGCTGGAATCCCAGCCGTCGGAAACGTGCCCAAACACGTGGAAAAAAAAATCCTCTCTACCTAATACACTTTCCAGGCTTCGTTTGTCCTGAATATAATCCCAGACAGTGGACCTTACCAAAGGAGGGGTAGAAAGGTGCAGTCCGAACAGCATTTGGACCCGACTACAAGAGCCATCTCTAACTATACCGGTTGAAATAGTTGTAGCAACCGTAGCAATCGACCAGCCTGCTCCCCTTCCCTGACACACACATACACACACACACACGCACACACACACACACCACGCAGCCTGGCTCGGTGAGTTCCAGAATTTAGAAAAGTAACTCATTGTAGTACCTCGGGGCGGCGGGGAATGGGGTAAGACCGCGGGGAAGGGGGCGCTATTTTCGGGGGCATTTGAAAAGCACGGTCTGGTTGGAATGTTATCGTCTTTCAGATGGCCTCTCCTACTGGAAGTTTCTGTACCCTTTATCAGAAGAGAGGCGCAGGCGGACGGAGGGAAGTCGAGATGAGCGCTAGGGCTGCACCTTGCTCCAGGGCCAGCTGGGAGGGGGAGGGTACCCTAAAGAGGCGCTGAGGTCTCAGAGGGCCTATCGGAAGCCGTTCTTTGTGGCCTGGGATTTCAGCCCACCAGTGTCAGAGTGTTAGTCCCCTTTGTCTAACTCTGCTTTGAGCCCACCAGCCACCAAGCCTTGGACAGGCTGTGAAGTCAACCCTTTGGCGTTTGCTTGCTCCCTCGCTCGCGCTCTCTCTTTCCTACTTCACCTAAGTTCGATGAGTTGAGATCTGTTTTTGCTGAACTCGAAGTGCTTCGAAGAGGCGAGCTGTGTGCATGTGCGCCTAATTATCAAAGCTGGTGGAAAAGAGCCCATTTATATCTGTGCGCAAACTTCTCCGAGCCAACACTTTGCAAGTTCAGTATTCTAGCGCAACGTAGGGACCTGCAAATACTTGCAACTGCGATGGGCACCGAGGACCCTGGGACAGAGTCCTTGATTGGCAGAACTCTTCTTGGTGAACTTCTGCGTGTCCTGTGCCTAAGTCGGCGCGCTACGACCCCGGGAGCCGTTTTAGCCCGGAGCCGCGGGCTCCAGAGCTGGAGCGGGCCGGGGAGAAGGATGCTGAGGGACGCATGGAAAGCAGGCAGGCAGGCAGGGGCGGGGGAAGACTTACGGACATCCTGGCCCTGACACCGAAGGACAGCGGCGACGAGCAGCGTCAGCAGCACCAGCGTCTGGGGAGCCCCGAGGCGAATCACGGCTCACCGCGGGGCCTGGCTGAGCCGGGCCCGGGCGGAGCGCAGCGAAACGGCAGGAGCACGGCGCGGGTCCGGGTCTCTACCGCGCCCTCATGCAGGAGGCCCTTGGAGCAGGAGGGGGAAGCGGGAGACCCGGCAGCCCAGCAGCGCTCTGCGTCTTCTCCCCGCCGCGGCGCCCGTTATATGCGCCCGGCCCCTTTCGAGGCTGGCGAACTCGCCCAAACCGCGGGCCGCCCCCTGCCCCCCGCTGGGCTGTAACCTGAACCGCCCGCCCCCGGAGCCCGCCTGGGCCCTGCCAGTGCCCGCACCTGCCCAAGCCGGACCCCCCTCTCTGGGAGTCACGCTTCCCGCCCTCCACCCCTAGTGCGCCGAGTGGCCTGATCGGGCGGGGCGCAGAGATGGCCCCTGCCCCCCAAACCCGGGGCTGCGGCGCTGCCCCCCTCTGACCACAGGCGGGAAGGGTGGCCTCCGGCCCCTCCCCTCGGAGTTCTGCCGGAGTTGGAGGGGAGGGGGTGTTTGCAGAGGCGCAGGCCGAGAGCCCTAGACCAAGGACGGAAAAGACATGGGAGGGAGGAGGGAAAGCGGTAGAAAGGAGCAGCGGAGGGCGAGGGGGCACCGCGTCAGGCGTTTGGGAGTGGGGACAGGGAGGAGCCCACAGAGATTCAGAGTCCTAAATCTTGGAGACAGGCTAGCTGAGCCAGATCTGAAGGGTTACCCCGACCTATCTTTTAGCCCTTCCCTGCAGTACCTGGTCCCCAGACTCCCACCTGGACGTTCACAGCGACTGCCCTCCACCCCTCCCCCATCCAGCTCTGCGTTGAAGGCTTCCTCTGGAGCACAGGCCGAAGTTGGCCTGAGCCGACAGCCAGGAAAAGAGCTGGTGTGTTACTGCACAGAAGGAGACCTGTGTGAAGGTGTGGGGGGCAGGGGCAGGCCCTGGGAAGGGGACTGAAAGAGCCACAGAGGACGGAGGGAGCCGAGACTAAACGGTGCAAGCTGCCTGCTGTGGGGGGACTGTCTAGCTCCAGGCTCAGACGTGGTGTCTGCTCTTCCTGGCTGGGGTCCGGGAGTCCCCCGGGGAGTGGGCACTGCCGGCCGTCGTAGAGCAGCTTTGGCCAGGGACGGTTGGTCACTGCTGCGGCCCTGGCCAGGGATCGGGGAGGCCGATCCAGCTGGCGAGTTCTGTGAGCCGGGGAGAAGCGCCAGAATTTCCCAGTCGGCCCCCTAGCCCTCCGCTTGCCGCCTCACCTCACCTTCCCCGGTGAGCGCCCTCTCTCACCTTAGCCAAACTGCCTTCTTCCCAGGGCTTAGCTGGTCTCTTCTCTTGGTCTCCGGTGCCTCCTTTCATACCAGGGAGGAAACGTCCCCAAACAGACCTTCCTTTTGAGCGATATGGTCCCCCAAAGAACTATAGGCAAAATGAAACTCAGAATTTGGGGTCTGACTTAACCAGAACTTCTGCCCTCCTGGGCAGTTTTGTTTCTCTGGAGCTTTCCCCCTAGAAGCTGAGAGCACTTGAAAGAAGCTACTTCTGGGCCTTAGGCTTCCACCAGGGGTCCTGGGACCCCATCCCTAGCCTATCATGCTTTGACACTTGTCCTGGTAGAGGCTGGAGTTCCAAGTGCTCTGGTTGGAAAGGGAAAGAACTCATTGTTGAAGGAAATGCTTCTAGGCTTTGTCCAGTCTGGATGGAGATGGGGAAGAATTCAACCAGTTTCCAGCATCTCCCCTACCTTCCACGGGCCTTGTCTGAGTCTCCATGCTCCCATTCAGGGGCTTGCATTAAGCTCTGGGCTCTTCCTCAGGCCCAATCTCTGCTAGAAGAAAGCTGGTCTCTTGCCATCAGTGCCCCATGTCCTCTTTGGGGCTCAGAAGGTCCTATATTCTCTACCTGGAAGATAGAATGACCAAATTCCACACATTTATCAAGACCTCCTAGGTTAAAGCCCCTCTGAGAAGCCTTCTCTGATATCTCTAGAACACAACGTCTCCCTGGCTTTCTGAATCCCCCTGGCATTTATAGCCTAAGCTACATATGTTTTTGTGT
|
Task1_train_17528
|
The variant affects gene PFKM (phosphofructokinase, muscle), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
|
Pathogenic; Glycogen storage disease, type VII
|
TCCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTATAGGGATGCACCATTGTACTTGGCTCATGTCTTTTATAGGGACCAATAGACCATATTGTAATTCTCCACATGTCTTGAAGACCATTACCAAGTCCTTTATCTTGGTATTCCCAGACTCTGTGGTGGTCATTGCTGTACCCCCAGTGCCTAGCATAGTGCCTGAAACATGATAGGTGTTCAGTTAGTATTTGTTCAGTGAACAAATGGACCTTCAATTCAATTTGGAGCTAATAGCCATGTAATACCAACCTGCAAAAAAAAGAAACATTTTGATTTTTTTTATTCCATTCTATTCCTGATAGCCTTGGATTATTCAAAAGTTTGTGATGGTTTTTTAGTTTGGTGCTGCAGATTTTTCCGATTACTAGCTCTCTTAGTGCTTGTTGGTATATTACATTTCTCCAGGCAGGGTTAAGGACAACATGAACAGATTTTAGATTAAAACAAAAATATGTACTAGAATGTCTAAGAGAGACTGGCTAAAATGGTTTACAAGAAGTTGACCCTTCATGGCTCTTAAGATTCCCTGTGCATCACCATGTGCTCCTTGTCACATTACATGGTAGGAAAGGAATGTCTCCCATCTCTCACCAATAAGGCCATGCTTAGCAGAGGATCAGTGCATTGTTCCTAATATGAAACACACATATGGGACACCTGCTGTGTGTTTTATGTTGGGACGGGTTGGCTTTTTCACAGTGCTCCTGGAAGAGAGTTCTTTTCACTGAGCAGCTACTAGGAGAGGGATAATATCATCTGTGAAAAAGGGAAAAGGATTGCCTCTCTATTTTAGTCCTAAGTTTTTGTTCTGTTTTGTTTTAATTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTACAGATGGAGTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTAGGCTCAAGCAGTCTTCCCAGCTTGACCTCCCAAAGTACTGAGATTACAGGCATGAGCTACCGTGTCCAGCCCTAGTTCTAAGTTTTTCTTCCAGTAGAAGCAGAGAGAGAATGATTTACAGTATACTTTTTGAGTTCCCCATAAACATCTTATATACAGGGCCACAGGAAGAGACTAGCAAATATTTGTTGACTAATTGAGGAAATGCCAGGAGAACGCAGTGAGAGAATAGAGTCCCCACCAATTCTTCCTGCACACTTGGTCACAGCCTCTTCTGGCAGTGTGATAACTAGTAAATCACAACTGTGTGGCACACATTGGAACATAGACCAACTCAAGTGACACAAAAAAGGGGGGTGTGTGTGTGTAGACTGAGAGAATCAGCTGTCTGGTAACAGATATACTGTGAACTTGTGAATAAACTGTGACTTGCCAGGTTACTGAACCATATAGAGTCATGTCTTTGTCCTGAAATGCCAACTAAAAGCTGATGTCTCGATTCAGTGCAGAAAGCAAGGAAAAACCTAGTACAGCCATTGACATTAGTAGGACAAGCCATAGAGGCTAATAATGTTAACTTAGGCATCTGAGAACTTGAATTCTAATCTGAACTTTCTAAAAGTACTAGCTTTGTGCCCCTTGACCTTTTTGAGTTTCAGTTTCCAAATCTTTAAAATGGAGACAATTCCAGGATTGTTAACAGCATTAAATAAGATGATGTTTGACAAGCTCTTGGCAGTGTCTAGCCCACAATACACATTCAAGAAAATGTGTTATTCTTGTTGTTATTGTTTCCCAGATGGTCCTATCAAGGAAAGGTCTTGGGAAAGGCAGGATTTTGGGGGGGCTTGAGGAGCAATGAATGCAGATTATCTGAAGCTCCAGTAACATTGACTGCAGTAATTGGGAGTGGGGAGGCCAGAAGACTTTGATGAGAGGATTATTCTAGATTCAGAGAAAAGACTAAATAAAGTACTGATTCGTTATCTTTAGCCAAATGTAATATCTCTGGATTCCAGGGCGCCTTTTCTTAGGAGCAACCTCTCCGTGACTTCTTTTGTCCCTCCTTTCAGGTATGAATGCTGCTGTCAGGGCTGTGGTTCGAGTTGGTATCTTCACCGGTGCCCGTGTCTTCTTTGTCCATGAGGTTGGTTCTGTACTTTGTTCTTCATCATTCTTTCTCTGTCTTCTTCTAAATCTGCCTTCTATCCCCTTCCCACATTCTGTGTCCTTACCTCCCAGTTAGTTACATTGCTGTGTTTGATTTTCCTTGACTCCGTAGCTTCATGAGTCACTCTTTCCTACTTGACTCCAATAGTGATGGTGGGACCTGAGCATCTACAAACTGGGTCTTCATGTTGCCTGTTCAATTTAAAGGAAAAAGTAACTCTCAGTCCTCCTTTTATCTCCCTCAAAACAGAGAAAGAAATGGAAATGGGTAGTATTTACAGCAAATTTAGTATATCCAGAGGAAGAGCCCCAGGAGAAAAGAGACTTGCTGCATTTCTGTAGTTTGCATAACTTTCTGAGGTTCTCAAATCTTCTTTTGCACCCTTCTCCCAGTACCCTCTCATGCTTCACCCACTCTTCTTTTTATAAGGTCCACCTGCTTTCTTGTATCAGATTTTATAATCTTTTAGAGCAAGTCGCGTTTCTTTCCTTCCCTCCCACCAACTTCCCCTTCTCCTTTTCTCCATGGTTATCAAGACCATCTGTTATCATTGGCCCCCTAGGAAGCAGGTTGGAGGAGATAGGATGAGCCAAAAATAAGAATTAAGATTAACTATTAGGAAGGATATCCACATCCCAGTATTTCAAAAATGGGAGAAAGTAGAAGAGAGTATTGCAAAAGTTGATGCCTCCTTCTTTGGACTGTGTTAAATATGATAGTCTCACGAGCATCCAGGACTCACTAATGGGAGGAGGTGGCTTGACTCTCAGAGAATCTCTTCCCAGGGATCCTGTCTTAATCTTGGGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCCTTGTTTCATCCCACTCTGTTTTGGGCTCATGGTCTCCTAAATTCCCTGTCATGTGGTTTCATGGGAAGGAATTCAGTGACAAGAGAGGGACCCTATTTGCCCTTTACTCTTAGCATTTGAAAATACCACCCTGGTTTCCTGGGGCAGGGAGAGGGTGGAGGAGTGATCACAGGATGCTTTGCTCTTTATGGAAAGGTCATAAACAAGACTATGGGGACTGACACATAAGCAGATCTTACTCTAGGGTCACAGGGAAGGTCTGGCCCTGAAAATAACCTTACCAGAGGACTGGAGCCAGAGCCAGAAGTGGAGCTGAAATCTGCCAGTCCTCATGTGATGGAGATGAGGTGACCTGAAACCAGACCACTTAAAGGACGAAGGAACTGAGACAGCCTTTCGGAGTCTCAAAAAAATCCTAAGAGTATCCTGAGGATTTCCACAGTCCTTTATGCTACTTGCTCCATGTTGTTTTAGGCTTCTCATGTGTATCCACTGTGGGCTAGCCCACAGTGAGTGAGAGAAATACAATCATTTGCTGGTTTACTGAAAATTTGTAAATTACATTTGTATCCCCCTTTTTTCAGCTCAGTTCCCTAAAAATCCATGGGCAAAAATTTAATATGCAGTGTCTAGTGAAGGCTCTACCTAGGTGCTAAGTAATGGTGCCTGCCATAAAGTGGTCTGAGAATGAGCCAGAATTCTCCACCAGTATCCCAAAGTCATGGCTGCCCAGGAGTACATATGATATGAAAACCTAAGTATACTTACCTCTCTCAGGTAAGTATACTTTCTCTCAGGGATAGAAAGCCTTAATTTCCCAGGGACTTATAGATACCTCTCTTGGGGTATCTATAAGGCTTTCTTTACCTAGAGCTATTTTTCCTGTGAATACCTGGATATTGCAGCTTCTGCTGCTAGCACCATGGATTGCAAGGAGCTAAGGGGAAAGGATTGGCAGTACCTGGGTACAGTTAGAAATCTCAGTGCAGAGAGAGGAAAAATACTA
|
TCCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTATAGGGATGCACCATTGTACTTGGCTCATGTCTTTTATAGGGACCAATAGACCATATTGTAATTCTCCACATGTCTTGAAGACCATTACCAAGTCCTTTATCTTGGTATTCCCAGACTCTGTGGTGGTCATTGCTGTACCCCCAGTGCCTAGCATAGTGCCTGAAACATGATAGGTGTTCAGTTAGTATTTGTTCAGTGAACAAATGGACCTTCAATTCAATTTGGAGCTAATAGCCATGTAATACCAACCTGCAAAAAAAAGAAACATTTTGATTTTTTTTATTCCATTCTATTCCTGATAGCCTTGGATTATTCAAAAGTTTGTGATGGTTTTTTAGTTTGGTGCTGCAGATTTTTCCGATTACTAGCTCTCTTAGTGCTTGTTGGTATATTACATTTCTCCAGGCAGGGTTAAGGACAACATGAACAGATTTTAGATTAAAACAAAAATATGTACTAGAATGTCTAAGAGAGACTGGCTAAAATGGTTTACAAGAAGTTGACCCTTCATGGCTCTTAAGATTCCCTGTGCATCACCATGTGCTCCTTGTCACATTACATGGTAGGAAAGGAATGTCTCCCATCTCTCACCAATAAGGCCATGCTTAGCAGAGGATCAGTGCATTGTTCCTAATATGAAACACACATATGGGACACCTGCTGTGTGTTTTATGTTGGGACGGGTTGGCTTTTTCACAGTGCTCCTGGAAGAGAGTTCTTTTCACTGAGCAGCTACTAGGAGAGGGATAATATCATCTGTGAAAAAGGGAAAAGGATTGCCTCTCTATTTTAGTCCTAAGTTTTTGTTCTGTTTTGTTTTAATTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTACAGATGGAGTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTAGGCTCAAGCAGTCTTCCCAGCTTGACCTCCCAAAGTACTGAGATTACAGGCATGAGCTACCGTGTCCAGCCCTAGTTCTAAGTTTTTCTTCCAGTAGAAGCAGAGAGAGAATGATTTACAGTATACTTTTTGAGTTCCCCATAAACATCTTATATACAGGGCCACAGGAAGAGACTAGCAAATATTTGTTGACTAATTGAGGAAATGCCAGGAGAACGCAGTGAGAGAATAGAGTCCCCACCAATTCTTCCTGCACACTTGGTCACAGCCTCTTCTGGCAGTGTGATAACTAGTAAATCACAACTGTGTGGCACACATTGGAACATAGACCAACTCAAGTGACACAAAAAAGGGGGGTGTGTGTGTGTAGACTGAGAGAATCAGCTGTCTGGTAACAGATATACTGTGAACTTGTGAATAAACTGTGACTTGCCAGGTTACTGAACCATATAGAGTCATGTCTTTGTCCTGAAATGCCAACTAAAAGCTGATGTCTCGATTCAGTGCAGAAAGCAAGGAAAAACCTAGTACAGCCATTGACATTAGTAGGACAAGCCATAGAGGCTAATAATGTTAACTTAGGCATCTGAGAACTTGAATTCTAATCTGAACTTTCTAAAAGTACTAGCTTTGTGCCCCTTGACCTTTTTGAGTTTCAGTTTCCAAATCTTTAAAATGGAGACAATTCCAGGATTGTTAACAGCATTAAATAAGATGATGTTTGACAAGCTCTTGGCAGTGTCTAGCCCACAATACACATTCAAGAAAATGTGTTATTCTTGTTGTTATTGTTTCCCAGATGGTCCTATCAAGGAAAGGTCTTGGGAAAGGCAGGATTTTGGGGGGGCTTGAGGAGCAATGAATGCAGATTATCTGAAGCTCCAGTAACATTGACTGCAGTAATTGGGAGTGGGGAGGCCAGAAGACTTTGATGAGAGGATTATTCTAGATTCAGAGAAAAGACTAAATAAAGTACTGATTCGTTATCTTTAGCCAAATGTAATATCTCTGGATTCCAGGGCGCCTTTTCTTAGGAGCAACCTCTCCGTGACTTCTTTTGTCCCTCCTTTCAGGTATGAATGCTGCTGTCAGGGCTGTGGTTCTAGTTGGTATCTTCACCGGTGCCCGTGTCTTCTTTGTCCATGAGGTTGGTTCTGTACTTTGTTCTTCATCATTCTTTCTCTGTCTTCTTCTAAATCTGCCTTCTATCCCCTTCCCACATTCTGTGTCCTTACCTCCCAGTTAGTTACATTGCTGTGTTTGATTTTCCTTGACTCCGTAGCTTCATGAGTCACTCTTTCCTACTTGACTCCAATAGTGATGGTGGGACCTGAGCATCTACAAACTGGGTCTTCATGTTGCCTGTTCAATTTAAAGGAAAAAGTAACTCTCAGTCCTCCTTTTATCTCCCTCAAAACAGAGAAAGAAATGGAAATGGGTAGTATTTACAGCAAATTTAGTATATCCAGAGGAAGAGCCCCAGGAGAAAAGAGACTTGCTGCATTTCTGTAGTTTGCATAACTTTCTGAGGTTCTCAAATCTTCTTTTGCACCCTTCTCCCAGTACCCTCTCATGCTTCACCCACTCTTCTTTTTATAAGGTCCACCTGCTTTCTTGTATCAGATTTTATAATCTTTTAGAGCAAGTCGCGTTTCTTTCCTTCCCTCCCACCAACTTCCCCTTCTCCTTTTCTCCATGGTTATCAAGACCATCTGTTATCATTGGCCCCCTAGGAAGCAGGTTGGAGGAGATAGGATGAGCCAAAAATAAGAATTAAGATTAACTATTAGGAAGGATATCCACATCCCAGTATTTCAAAAATGGGAGAAAGTAGAAGAGAGTATTGCAAAAGTTGATGCCTCCTTCTTTGGACTGTGTTAAATATGATAGTCTCACGAGCATCCAGGACTCACTAATGGGAGGAGGTGGCTTGACTCTCAGAGAATCTCTTCCCAGGGATCCTGTCTTAATCTTGGGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCCTTGTTTCATCCCACTCTGTTTTGGGCTCATGGTCTCCTAAATTCCCTGTCATGTGGTTTCATGGGAAGGAATTCAGTGACAAGAGAGGGACCCTATTTGCCCTTTACTCTTAGCATTTGAAAATACCACCCTGGTTTCCTGGGGCAGGGAGAGGGTGGAGGAGTGATCACAGGATGCTTTGCTCTTTATGGAAAGGTCATAAACAAGACTATGGGGACTGACACATAAGCAGATCTTACTCTAGGGTCACAGGGAAGGTCTGGCCCTGAAAATAACCTTACCAGAGGACTGGAGCCAGAGCCAGAAGTGGAGCTGAAATCTGCCAGTCCTCATGTGATGGAGATGAGGTGACCTGAAACCAGACCACTTAAAGGACGAAGGAACTGAGACAGCCTTTCGGAGTCTCAAAAAAATCCTAAGAGTATCCTGAGGATTTCCACAGTCCTTTATGCTACTTGCTCCATGTTGTTTTAGGCTTCTCATGTGTATCCACTGTGGGCTAGCCCACAGTGAGTGAGAGAAATACAATCATTTGCTGGTTTACTGAAAATTTGTAAATTACATTTGTATCCCCCTTTTTTCAGCTCAGTTCCCTAAAAATCCATGGGCAAAAATTTAATATGCAGTGTCTAGTGAAGGCTCTACCTAGGTGCTAAGTAATGGTGCCTGCCATAAAGTGGTCTGAGAATGAGCCAGAATTCTCCACCAGTATCCCAAAGTCATGGCTGCCCAGGAGTACATATGATATGAAAACCTAAGTATACTTACCTCTCTCAGGTAAGTATACTTTCTCTCAGGGATAGAAAGCCTTAATTTCCCAGGGACTTATAGATACCTCTCTTGGGGTATCTATAAGGCTTTCTTTACCTAGAGCTATTTTTCCTGTGAATACCTGGATATTGCAGCTTCTGCTGCTAGCACCATGGATTGCAAGGAGCTAAGGGGAAAGGATTGGCAGTACCTGGGTACAGTTAGAAATCTCAGTGCAGAGAGAGGAAAAATACTA
|
Task1_train_17529
|
This sequence variant lies in PFKM (phosphofructokinase, muscle) on Chromosome 12. Is it clinically significant, and what condition might it cause if any?
|
Pathogenic; Glycogen storage disease, type VII
|
TGGTCTGTAGAATCCTGTGAAGACCAGAAAGAGCACTATGCAGGCATTCTCTGGTGTCACCTCATATGCATGACCGCAGCTACTGTTGTTGGAATGCTGATTTTGAGTCAGGCGACCTGGTGCTAAGCCCTTTATGGGCATTTTTGCATTTTATCTTCACAATAGACATGCAAAGAAGATACTATCTCCATATAACATAGAAAGTTTAGAGAGGTTAAAAAACTTTTCTAAACTCCTAAGTGAGCAGATGGTTTAAGTGGTTGAGAAAGTCAGTGATCTTTTTACTACATCATGTCTCCCCTTCAGATTTCCCTTGCTGTCATTCTGCTTTTGAGAGAGATACTCTCTCAAAACAGAGATATAAAGTGTCAACACTGACACTGTGACCACAAGTCAGCCCTCTGAGGCAAGGGGAACCAGAAAGGCTTGGAAAGGGAGATTGGAGAGGGTGAGGGGCTGAACACTGACAGTTACTGCAGCTGTCTGTAGTGCTCCCTCTTCCAGTTCTGTCTCATTTGGAGTCATTGTTTAAATTTCAGTCCACACTGAGCTTCTTACAGGAATTAGGCACAGTTCAGGCCCAGGATTGTAAACAACTCTCTTCCATGTGTCTCTTCCTTCCTGGAGAGGTGTGGTGTGGAAGATGATTTATACCCAACCTTATCCATTCCCAGTTAGGCTTAGGATTTACTCTTTCATTTTCAGGCAAATGTTGAACATCTGGTGCAAAAGATGAAAACAACTGTGAAAAGGGGCTTGGTGTTAAGGTACCTCATCCATGGTTTGTTCCTAAATGAAGAAGAAAAATAAGCTTTGGCTCAAACCCATAGAATGGCCATTGTTGGGACACCCTGAGGAATCTGTAGATATAAAGGGAGGGGGCCAGCCTATCCCTTGAATCCTTGGAGGAGATAAAAATTGAAAGGAAAGAACAAAGGCAGAAATGGGGGATGGGAAGCCAACCACAGAGTCACAGGCTTTTGGTCTCCACCTGGCAGGAATGAAAAGTGCAATGAGAACTATACCACTGACTTCATTTTCAACCTGTACTCTGAGGAGGGGAAGGGCATCTTCGACAGCAGGAAGAATGTGCTTGGTCACATGCAGCAGGTAGGGAAGACACCGTAGTCATGCCCTTCATCAGACAGCCATACCTGCCAACAGCCATACCTGCCAACAGCCACTGAGGCTTCCACTGGCCTTTTCCAGTCTTCTGGAGGAGCCTGTCAGTGCCATCATAGAGCATGGGCCTGCAGTCTCTTACAGTCATAGAATCAAAACATCTTTATCCTGGAAATGACTTTAGAGATTATATGGTCTATCCTTTTCAAAAGCCCTCATGGGAGGGCTTTTCAACCTTGGCAGCTTTGCCTTTTGGGGCTGGATGATAATTTGTCATGGGTGGCTGTTCTATGCACTGTAGGACAGTTGCACAGCATCCCTGGTCTCTACCCACTAGATGCCAGTAGCACCTCCCTCTCACTCCCAATTGTAACAAAAATGTCTCCAAACATTCCCACTTTCCCACCTGCTTCCTCTTAATTCAAAGGAAATCTGTATGATGTTTTATATTAATTCTGAGGTGCTACCAAGGGCAGCCAGATTGGGCCACAAAAAAAACACTTTTATGTCATCATTGACAGTGATCAACAAAAGCTGCTGGGCTGAAGAGGGGCAGGCAGCTGACCCATTGGCCAATAAAACTAAAACAGGATCTGGCAGCTGTGGAGCTAAAAGAGGGGATTGTGGGGCCAATCATCTTTAATTAGTTGTTATTATATCTGATACATGGCCAAATTTGCTGGGCCAGCTTGCCTTGGATCCTGGCACTGCCTCAGGGCACCCTTTCATAGTTTGACTTCTGGATTCCTGTTTTGGGCTGTAAGCCTGGGGCCCATCTTTCTTTTTTTCTCTGTGTGTCTAGATATCTCTGCCACTTCATTAGAGTCCTTCCCTCTGTAATTTTTATGTTTCTTTCTCCAGGGTGGGAGCCCAACCCCATTTGATAGGAATTTTGCCACTAAGATGGGCGCCAAGGCTATGAACTGGATGTCTGGGAAAATCAAAGAGAGTTACCGTAATGGTAGGTGGGGTGAGAGCGAGTGCCCTCTATAGAGGCTGGTTCCCCAGTATAGAAGCTGACTGCCCATCCCTCATTGCAGGGCGGATCTTTGCCAATACTCCAGATTCGGGCTGTGTTCTGGGGATGCGTAAGAGGGCTCTGGTCTTCCAACCAGTGGCTGAGCTGAAGGACCAGACAGATTTTGAGTGAGTACATCTGCTTCCTGGAGTGGTTCTTTTCCCTGGTAGTTTCAAGCTCTACTGTCCTCAACCTGTTCACTGTCTTTAATTCTTTTTTTTTTTTAAGGAGTAACACCTGTATTCTTACCCATTTCAGATGTGATGCACATGTCCTAAATCTAACCTCTTCTGTCTAACTTCTTCCTATAAACCTTTGGTAGAAGTTGATTGGGGTGCTAAAAGATTATATCATCATCTACCTCATTCCTCTGTAGGCATCGAATCCCCAAGGAACAGTGGTGGCTGAAACTGAGGCCCATCCTCAAAATCCTAGCCAAGTACGAGATTGACTTGGACACTTCAGACCATGCCCACCTGGAGCACATCACCCGGAAGCGGTCCGGGGAAGCTGCCGTCTAAACCTCTCTGGAGTGAGGGGAATAGATTACCTGATCATGGTCAGCTCACACCCTAATAAGTCCACATCTTCTCAGTGTTTTAGCTGTTTTTTTCATTAGGTTTCCTTTTATTCTGTACCTTGCAGCCATGACCAGTTCTGGCCAGGAGCTGGAGGAGCAGGCAGTGGGTGGGAGCTCCTTTTAGGTAGAATTTAACATGACTTCTGCCCCAGCTTTATCTGTCACACAAGGCTGGGCACCTCTAGTGCTACTGCTAGATATCACTTACTCAGTTAGAATTTTCCTAAAAATAAGCTTTATTTATTTCTTTGTGATAACAAAGAGTCTTGGTTCCTCTACTACTTTTACTACAGTGACAAATTGTAACTACACTAATAAATGCCAACTGGTCACTGTGCTTTTGCTTCTCCTGTTATCATCTTCCTAAGTGGAATGTAATACTGTCAGCCCCATGTATCAGACACTTGTCTGATGAAGCAGTAAAGACGTTAAGGGTATCACAGGGGGTGGAGGAAGGGATTATCTCTAGTACACTACTTGCTGGCTGTCTGAAAAATTGTCACTGCCAAACTCTAAAAACAGTTCTAAATAGTGACTGAGAAGGTTTGTTGCTGGAGTCAGGGAATAAGGCAGCCAAATACTCTTTGCACAGTTCTTTAGTGGGAAGAGAAATTAACAATAAATATCAAGCACTGTGGTAGGCATTTCATCATTGAATCCTCATAGTAGCTTTTGGAGGGCAATGGTGACAGCCTGACTTCAGAAAGGAGGACACTGGAGCTCAAGGTGATTGATTACATAATGTCTCCTTCAATATTATTCAAGTAGAACTCAAACTCAGTTCTGACTTCAAACCTCATCCTCATTCCCCATTCCTGCTTCCTTATCATGCCATATCAAATCCCCAGAGCCATAAGGCCTATGAAAACAAAGTGAAAGGGAAGGTTCAGGCATTCATTCAGAACATTTTAAATGCTAATTGCCATTGATTTATAGGTTCTCTGTCTCTTTCCTGTCTTTAATCTTAGAGCTGTTTCCTCAAGAAAATGAAGAGGGAAGGATGGCTCAGGGAAAGTTAATCAGAGGGAAAATGTCACTCTGTAAAGAGTAAAAAATTTAGGATGATGATACGATCTGGGAAAAAAAGGCATAGTGAAGACCACTTAAAAACAAACAAAAAAAACCTATGAAGGTGCATGCTATTTCCCCAGAGCTAAAAAGATAAGTGAAATTGTGTTTGAACTCTTAAGTGGAGGTGAAGCAGAATTTATTAGCCACCAACCACATAAGTGATTATGAAGTAACTGAGAAACAGGTAACATTTTTTCCCACATGGACAAAACTTTCTCTTTCTAGAATATTAAGTATCTATGATGAGAAATGAAGTAGCATCTCAAGCAGTTTATAAATCTACCAGAATATTAGAATCACCTGGG
|
TGGTCTGTAGAATCCTGTGAAGACCAGAAAGAGCACTATGCAGGCATTCTCTGGTGTCACCTCATATGCATGACCGCAGCTACTGTTGTTGGAATGCTGATTTTGAGTCAGGCGACCTGGTGCTAAGCCCTTTATGGGCATTTTTGCATTTTATCTTCACAATAGACATGCAAAGAAGATACTATCTCCATATAACATAGAAAGTTTAGAGAGGTTAAAAAACTTTTCTAAACTCCTAAGTGAGCAGATGGTTTAAGTGGTTGAGAAAGTCAGTGATCTTTTTACTACATCATGTCTCCCCTTCAGATTTCCCTTGCTGTCATTCTGCTTTTGAGAGAGATACTCTCTCAAAACAGAGATATAAAGTGTCAACACTGACACTGTGACCACAAGTCAGCCCTCTGAGGCAAGGGGAACCAGAAAGGCTTGGAAAGGGAGATTGGAGAGGGTGAGGGGCTGAACACTGACAGTTACTGCAGCTGTCTGTAGTGCTCCCTCTTCCAGTTCTGTCTCATTTGGAGTCATTGTTTAAATTTCAGTCCACACTGAGCTTCTTACAGGAATTAGGCACAGTTCAGGCCCAGGATTGTAAACAACTCTCTTCCATGTGTCTCTTCCTTCCTGGAGAGGTGTGGTGTGGAAGATGATTTATACCCAACCTTATCCATTCCCAGTTAGGCTTAGGATTTACTCTTTCATTTTCAGGCAAATGTTGAACATCTGGTGCAAAAGATGAAAACAACTGTGAAAAGGGGCTTGGTGTTAAGGTACCTCATCCATGGTTTGTTCCTAAATGAAGAAGAAAAATAAGCTTTGGCTCAAACCCATAGAATGGCCATTGTTGGGACACCCTGAGGAATCTGTAGATATAAAGGGAGGGGGCCAGCCTATCCCTTGAATCCTTGGAGGAGATAAAAATTGAAAGGAAAGAACAAAGGCAGAAATGGGGGATGGGAAGCCAACCACAGAGTCACAGGCTTTTGGTCTCCACCTGGCAGGAATGAAAAGTGCAATGAGAACTATACCACTGACTTCATTTTCAACCTGTACTCTGAGGAGGGGAAGGGCATCTTCGACAGCAGGAAGAATGTGCTTGGTCACATGCAGCAGGTAGGGAAGACACCGTAGTCATGCCCTTCATCAGACAGCCATACCTGCCAACAGCCATACCTGCCAACAGCCACTGAGGCTTCCACTGGCCTTTTCCAGTCTTCTGGAGGAGCCTGTCAGTGCCATCATAGAGCATGGGCCTGCAGTCTCTTACAGTCATAGAATCAAAACATCTTTATCCTGGAAATGACTTTAGAGATTATATGGTCTATCCTTTTCAAAAGCCCTCATGGGAGGGCTTTTCAACCTTGGCAGCTTTGCCTTTTGGGGCTGGATGATAATTTGTCATGGGTGGCTGTTCTATGCACTGTAGGACAGTTGCACAGCATCCCTGGTCTCTACCCACTAGATGCCAGTAGCACCTCCCTCTCACTCCCAATTGTAACAAAAATGTCTCCAAACATTCCCACTTTCCCACCTGCTTCCTCTTAATTCAAAGGAAATCTGTATGATGTTTTATATTAATTCTGAGGTGCTACCAAGGGCAGCCAGATTGGGCCACAAAAAAAACACTTTTATGTCATCATTGACAGTGATCAACAAAAGCTGCTGGGCTGAAGAGGGGCAGGCAGCTGACCCATTGGCCAATAAAACTAAAACAGGATCTGGCAGCTGTGGAGCTAAAAGAGGGGATTGTGGGGCCAATCATCTTTAATTAGTTGTTATTATATCTGATACATGGCCAAATTTGCTGGGCCAGCTTGCCTTGGATCCTGGCACTGCCTCAGGGCACCCTTTCATAGTTTGACTTCTGGATTCCTGTTTTGGGCTGTAAGCCTGGGGCCCATCTTTCTTTTTTTCTCTGTGTGTCTAGATATCTCTGCCACTTCATTAGAGTCCTTCCCTCTGTAATTTTTATGTTTCTTTCTCCAGGGTGGGAGCCCAACCCCATTTGATAGGAATTTTGCCACTAAGATGGGCGCCAAGGCTATGAACTGTATGTCTGGGAAAATCAAAGAGAGTTACCGTAATGGTAGGTGGGGTGAGAGCGAGTGCCCTCTATAGAGGCTGGTTCCCCAGTATAGAAGCTGACTGCCCATCCCTCATTGCAGGGCGGATCTTTGCCAATACTCCAGATTCGGGCTGTGTTCTGGGGATGCGTAAGAGGGCTCTGGTCTTCCAACCAGTGGCTGAGCTGAAGGACCAGACAGATTTTGAGTGAGTACATCTGCTTCCTGGAGTGGTTCTTTTCCCTGGTAGTTTCAAGCTCTACTGTCCTCAACCTGTTCACTGTCTTTAATTCTTTTTTTTTTTTAAGGAGTAACACCTGTATTCTTACCCATTTCAGATGTGATGCACATGTCCTAAATCTAACCTCTTCTGTCTAACTTCTTCCTATAAACCTTTGGTAGAAGTTGATTGGGGTGCTAAAAGATTATATCATCATCTACCTCATTCCTCTGTAGGCATCGAATCCCCAAGGAACAGTGGTGGCTGAAACTGAGGCCCATCCTCAAAATCCTAGCCAAGTACGAGATTGACTTGGACACTTCAGACCATGCCCACCTGGAGCACATCACCCGGAAGCGGTCCGGGGAAGCTGCCGTCTAAACCTCTCTGGAGTGAGGGGAATAGATTACCTGATCATGGTCAGCTCACACCCTAATAAGTCCACATCTTCTCAGTGTTTTAGCTGTTTTTTTCATTAGGTTTCCTTTTATTCTGTACCTTGCAGCCATGACCAGTTCTGGCCAGGAGCTGGAGGAGCAGGCAGTGGGTGGGAGCTCCTTTTAGGTAGAATTTAACATGACTTCTGCCCCAGCTTTATCTGTCACACAAGGCTGGGCACCTCTAGTGCTACTGCTAGATATCACTTACTCAGTTAGAATTTTCCTAAAAATAAGCTTTATTTATTTCTTTGTGATAACAAAGAGTCTTGGTTCCTCTACTACTTTTACTACAGTGACAAATTGTAACTACACTAATAAATGCCAACTGGTCACTGTGCTTTTGCTTCTCCTGTTATCATCTTCCTAAGTGGAATGTAATACTGTCAGCCCCATGTATCAGACACTTGTCTGATGAAGCAGTAAAGACGTTAAGGGTATCACAGGGGGTGGAGGAAGGGATTATCTCTAGTACACTACTTGCTGGCTGTCTGAAAAATTGTCACTGCCAAACTCTAAAAACAGTTCTAAATAGTGACTGAGAAGGTTTGTTGCTGGAGTCAGGGAATAAGGCAGCCAAATACTCTTTGCACAGTTCTTTAGTGGGAAGAGAAATTAACAATAAATATCAAGCACTGTGGTAGGCATTTCATCATTGAATCCTCATAGTAGCTTTTGGAGGGCAATGGTGACAGCCTGACTTCAGAAAGGAGGACACTGGAGCTCAAGGTGATTGATTACATAATGTCTCCTTCAATATTATTCAAGTAGAACTCAAACTCAGTTCTGACTTCAAACCTCATCCTCATTCCCCATTCCTGCTTCCTTATCATGCCATATCAAATCCCCAGAGCCATAAGGCCTATGAAAACAAAGTGAAAGGGAAGGTTCAGGCATTCATTCAGAACATTTTAAATGCTAATTGCCATTGATTTATAGGTTCTCTGTCTCTTTCCTGTCTTTAATCTTAGAGCTGTTTCCTCAAGAAAATGAAGAGGGAAGGATGGCTCAGGGAAAGTTAATCAGAGGGAAAATGTCACTCTGTAAAGAGTAAAAAATTTAGGATGATGATACGATCTGGGAAAAAAAGGCATAGTGAAGACCACTTAAAAACAAACAAAAAAAACCTATGAAGGTGCATGCTATTTCCCCAGAGCTAAAAAGATAAGTGAAATTGTGTTTGAACTCTTAAGTGGAGGTGAAGCAGAATTTATTAGCCACCAACCACATAAGTGATTATGAAGTAACTGAGAAACAGGTAACATTTTTTCCCACATGGACAAAACTTTCTCTTTCTAGAATATTAAGTATCTATGATGAGAAATGAAGTAGCATCTCAAGCAGTTTATAAATCTACCAGAATATTAGAATCACCTGGG
|
Task1_train_17530
|
An alteration has been detected in ADCY6, TEX49 (adenylate cyclase 6| sperm microtubule inner protein 11) on Chromosome 12. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Lethal congenital contracture syndrome 8
|
AGGGGTAAAAGGAAGGCAAAGACAGGAAGGGAATCTAGAGTTCAACCTCCTAACCCTTCTGCCAGCCCTCAAGGCTTCACAAGGGACTGGGGAGCTAGAAACATGCTAGACTCAGGCTGAAGGCTGGGGAAAGCCAAGTTTAAGGTTCCTCTTCCCCACCCCGTAGTACCAGTATCCAGGTCCTCAGAGGGATTCCATGCTACCCCAGCCCCAAAGCATACCATGTCCCAGGACACTATCTGGGGAAGCCAGGAAATTCCTCAGCCTCTGTCCATCAAACCCCAGACAGTTCAAGTGCTGGCATGGAGCACTGGGGCTTAAGCAAGCGCTTGGGTCCCTGCCACAGACAGGGAGAGTCATGCTGCACACATGGCCCCCGAACGGCACTTAGGGATTTGGCACAAAAAGGACTCCTCTCCCTCCTTTTGCTACCACACCCCATCCCACTCCTGTGCAACCTGGGCATCTCTCTACATCCCCTGAAGTAGGAAACCCTGCTTTATTCCCAGAAGACAGAGGCCCACAGGAGAGAGGCAACCTGGGGTGGAGAGCTGAGGAGCAGGAGCACAAGGACTCACATAGACCTGGAAAACAGATATGCACACAAAGACCAACATGCACACACAGTTACACAAACACACGGGCCCTCCCCAACACCAGAGACTTGGGAGGGCAGGTTTGGGATCAGGGTCACCTTTCTCCATGCCCTGACCCTTTTCTATTTGGCAACAGAAGAGGAAGAGATGCTCCATGCCCCCTTGTCAGCAGACAGCAAGAGAGCACTGGGGCAGAGTGACCTGATCTGGACCCCGACGGGGTCCTCAGATCAGAGTCTGGCACTGCCCCAGCCCTGGCCGGCCTGCTCTTTGGCACCTGCAGGTGAACTTCCAGCTCCTGACCTGACATCCCCACACACAGGCTTGCTCTCTGAGCATTTTTCACAGTACCAGTGAGGCCAGACACCCCGTTCCCTGGAGCGTGCAGGAACTGGGGCTAAATCTAAGCTGTCAGAGGTCCCTTTGTTCCCCTTTGGGGACAGATCATGGGACTAAGATTTGGCACATGGAAACATTCTCCTGAAATATGGCCAAAGCTGGCTCCCCAGAGCTTCTCCCTCCTCTGCTCTGTGCATAGGAGGGACACCTGGCTGGGGTGGGGAAGTGCCCAGGACCAGTGCTGGGGATGCAGGTATTGCAAAGGCAAGCATGGAATAGGCACTCCTCATGCCTGTCTTTGTACAAAATATTGTACAAAATATTCCCAGGAAAAAAGAGGGAAAAGAAGGGCTCAGCCCTGAACCTGCTGCCCAGACAGACAGGGAAGGGTAGGCATGGCAAGCTGCCATTTTAATCCCTCAGGCAAGAGGCCTCCCTCTGCTTCTGCTACTGACCCCTCCCCTGCTCCCAAAGGCTGGAAGATTGGAGAGGGAACAGCCCTACCCCAAGTAAGAAAGAAAGTCACTTGCATAATCCTCTCGGTAGGTAGCCCCTTGTTTTCCAGCTTGAGGGCAGACGAGCATGATCCAAGCACAGCCTGCTGGGATGTTCCCTTTTGTGGTTAGCAGGGTCTGGAGGCTCAGTGCCCCCTGCCACAGCTCCACCCAGTGAGCACAGAGTCCACTCAATGCCCACCTTGGTCCCTTCAGCTGAATTTGTGGCTGGGCCCTGTTAACTGCTGGGGCCCCCATTGAGGAAGTAGGTGGTCATCTCCCCCTTGCCCTTCACCTTGACCACCCCTCGACACTCCAGCTGGTAGCCCTTGGCAGCTAGAACCTGGTACAGGTCCGTGGTCACCTGGGGGAGTGGGAGGGGAGCCCGCTTAGCCTGGAATCCTTCCTGCTGCATTTGCAGGGGCCCAGGGGTTCTCTAGTCAGGCTAGCTCCCTTCCCCCAGTCCCTGCCCCACCATACACAGAACACTAGCCACCCTACCCCTGTCCTAGCAGACTGCAGAGACACCTGTGGAAGCCCTCCGGGCCCATGTTCCTCCCAGCCCCTGCTCATATCCCCCTCACCTGGATTCGGTCGGGGACCCCCGTGCTGTCCATACGACTAGAGACATTCACTGTGTTCCCCCAGATGTCATACTGTGGCTTCCGAGCCCCGATGACACCTGCCACGACTGGGCCCATGTTCAGCCCTGAGGTGGAGAGAACAGCAAGAGACTAGTGGATGCTCCAGGGTAAACCCAGGGAGTCATCCCACCTCCTGGCACTGGTAGAAGGACCCAGAGAAAAAAATGGAAAAAGGACAAGTCTCCTGGTTGTAAAGAACAATCTAGTTCAAGACGAGCCTGGCCAACATGGTGAAACCCTATCTTTACAAAAAAAAAATACAAAAATTAGCTGGACAATGGTGGTACATGCCTGTAGTCCCAGCTACTTAGGAGGCTGAGGTGGGAGAATAGATTGATTGAGCCTGGGATTTGAGGCTACAGTGAGCTGTGATTGTGCCACGGCACTCTAGCCTGGTACAGAGCAAATCCCCATCTCAAAAAAAAAAAAAAAAAAAAACCCAAAAAACAAATAAAAATACCCAAAGACCTGAGCACCTCAGTTTAGGAGCTCCCCTGAGTCAAGACAGCCATGCTATAACAGTAATCTCCTGAATGCCTATTCCATGTCAACCACTCTAGTAAGCATTTTACCTGGCTTCATCCTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGATGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGTACCACCACACCCAACTAATTTTTGTTTTTTTTTTTTTTTTGGGGGGGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCCCACCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGAATTTCACCGTGTTAGTCAGGATGGTCTTGATCTCTTGACCTCGTGATCCGCCTGCCTCGGACTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTAATTTTTTTTTTTTTTTTTTTTTCAGTAGAAAAGGGGTTTCACTATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCATGATCTGCCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGCGCCCGGCATGGCTTCATCCTTTCAACACCTCTAAAAGGTAGGTATTATTATCCCCATTTTATAGATAAGGTAACTGAAGCTTAGAGAAGTTAGAAGACTTCTCAAATAAGCCAGTAAATGGAGCAGCCAGAATTCAAACCAAATAGTCCATCTCTAGTAGCCATGCTATTAACCACTCCCATCCACCAGTTCATTTGAGAGGAAATACCTCTTATTGGACTGGTCACAGATAAGGACAGAAGTATTCAAGTTTATATAAACCTGATTTTTAATCCCAGCTCTGCCACTTACTAGTTGTTTGACCTTGGGCAAGTTATTTAATCTCTCTGAGAGTCAGTCTCTATCCAATGAAAGGCGATAATAGTATCAGGATTAAAATATGCTCAAAAATTTATAGGACAGTGCCTAATGATCTCTGTTCTTAATATCAGACTTGATATAGGAGGTCAGAGGGAAGAAAACCCCACAGGAGCCCTGATGGGAAATCTGTGATCCCATCCCCAGCCTATAATCCCAGCTTCACCTGGAAAAAGTCCTGGGAAAACCCGCCAAGCAACAAAGCCCTCTTACCAATCTTCATCTGGAAATTGTTGAAGGAGTGCTCATTGATGTGCTTCATCTGCTCCATGAGCCGCATGGCGTAGTCAGCCAGGGCAGTGATGTGGGAGCGGCCCACCTGATCGTAGGTGCTGGCGTTCAGCCCTGAGGCAGCCATGTAGGTGCTACCAATCGTCTTGATCTTTTCCAGCTGCCGGAACCGCTCCTCGCTGATAATCTGAACAACACAAGGAGACCTGGCTGTCAAGGCAAAGACCCCAGACCCA
|
AGGGGTAAAAGGAAGGCAAAGACAGGAAGGGAATCTAGAGTTCAACCTCCTAACCCTTCTGCCAGCCCTCAAGGCTTCACAAGGGACTGGGGAGCTAGAAACATGCTAGACTCAGGCTGAAGGCTGGGGAAAGCCAAGTTTAAGGTTCCTCTTCCCCACCCCGTAGTACCAGTATCCAGGTCCTCAGAGGGATTCCATGCTACCCCAGCCCCAAAGCATACCATGTCCCAGGACACTATCTGGGGAAGCCAGGAAATTCCTCAGCCTCTGTCCATCAAACCCCAGACAGTTCAAGTGCTGGCATGGAGCACTGGGGCTTAAGCAAGCGCTTGGGTCCCTGCCACAGACAGGGAGAGTCATGCTGCACACATGGCCCCCGAACGGCACTTAGGGATTTGGCACAAAAAGGACTCCTCTCCCTCCTTTTGCTACCACACCCCATCCCACTCCTGTGCAACCTGGGCATCTCTCTACATCCCCTGAAGTAGGAAACCCTGCTTTATTCCCAGAAGACAGAGGCCCACAGGAGAGAGGCAACCTGGGGTGGAGAGCTGAGGAGCAGGAGCACAAGGACTCACATAGACCTGGAAAACAGATATGCACACAAAGACCAACATGCACACACAGTTACACAAACACACGGGCCCTCCCCAACACCAGAGACTTGGGAGGGCAGGTTTGGGATCAGGGTCACCTTTCTCCATGCCCTGACCCTTTTCTATTTGGCAACAGAAGAGGAAGAGATGCTCCATGCCCCCTTGTCAGCAGACAGCAAGAGAGCACTGGGGCAGAGTGACCTGATCTGGACCCCGACGGGGTCCTCAGATCAGAGTCTGGCACTGCCCCAGCCCTGGCCGGCCTGCTCTTTGGCACCTGCAGGTGAACTTCCAGCTCCTGACCTGACATCCCCACACACAGGCTTGCTCTCTGAGCATTTTTCACAGTACCAGTGAGGCCAGACACCCCGTTCCCTGGAGCGTGCAGGAACTGGGGCTAAATCTAAGCTGTCAGAGGTCCCTTTGTTCCCCTTTGGGGACAGATCATGGGACTAAGATTTGGCACATGGAAACATTCTCCTGAAATATGGCCAAAGCTGGCTCCCCAGAGCTTCTCCCTCCTCTGCTCTGTGCATAGGAGGGACACCTGGCTGGGGTGGGGAAGTGCCCAGGACCAGTGCTGGGGATGCAGGTATTGCAAAGGCAAGCATGGAATAGGCACTCCTCATGCCTGTCTTTGTACAAAATATTGTACAAAATATTCCCAGGAAAAAAGAGGGAAAAGAAGGGCTCAGCCCTGAACCTGCTGCCCAGACAGACAGGGAAGGGTAGGCATGGCAAGCTGCCATTTTAATCCCTCAGGCAAGAGGCCTCCCTCTGCTTCTGCTACTGACCCCTCCCCTGCTCCCAAAGGCTGGAAGATTGGAGAGGGAACAGCCCTACCCCAAGTAAGAAAGAAAGTCACTTGCATAATCCTCTCGGTAGGTAGCCCCTTGTTTTCCAGCTTGAGGGCAGACGAGCATGATCCAAGCACAGCCTGCTGGGATGTTCCCTTTTGTGGTTAGCAGGGTCTGGAGGCTCAGTGCCCCCTGCCACAGCTCCACCCAGTGAGCACAGAGTCCACTCAATGCCCACCTTGGTCCCTTCAGCTGAATTTGTGGCTGGGCCCTGTTAACTGCTGGGGCCCCCATTGAGGAAGTAGGTGGTCATCTCCCCCTTGCCCTTCACCTTGACCACCCCTCGACACTCCAGCTGGTAGCCCTTGGCAGCTAGAACCTGGTACAGGTCCGTGGTCACCTGGGGGAGTGGGAGGGGAGCCCGCTTAGCCTGGAATCCTTCCTGCTGCATTTGCAGGGGCCCAGGGGTTCTCTAGTCAGGCTAGCTCCCTTCCCCCAGTCCCTGCCCCACCATACACAGAACACTAGCCACCCTACCCCTGTCCTAGCAGACTGCAGAGACACCTGTGGAAGCCCTCCGGGCCCATGTTCCTCCCAGCCCCTGCTCATATCCCCCTCACCTGGATTCGGTCGGGGACCCCCGTGCTGTCCATACAACTAGAGACATTCACTGTGTTCCCCCAGATGTCATACTGTGGCTTCCGAGCCCCGATGACACCTGCCACGACTGGGCCCATGTTCAGCCCTGAGGTGGAGAGAACAGCAAGAGACTAGTGGATGCTCCAGGGTAAACCCAGGGAGTCATCCCACCTCCTGGCACTGGTAGAAGGACCCAGAGAAAAAAATGGAAAAAGGACAAGTCTCCTGGTTGTAAAGAACAATCTAGTTCAAGACGAGCCTGGCCAACATGGTGAAACCCTATCTTTACAAAAAAAAAATACAAAAATTAGCTGGACAATGGTGGTACATGCCTGTAGTCCCAGCTACTTAGGAGGCTGAGGTGGGAGAATAGATTGATTGAGCCTGGGATTTGAGGCTACAGTGAGCTGTGATTGTGCCACGGCACTCTAGCCTGGTACAGAGCAAATCCCCATCTCAAAAAAAAAAAAAAAAAAAAACCCAAAAAACAAATAAAAATACCCAAAGACCTGAGCACCTCAGTTTAGGAGCTCCCCTGAGTCAAGACAGCCATGCTATAACAGTAATCTCCTGAATGCCTATTCCATGTCAACCACTCTAGTAAGCATTTTACCTGGCTTCATCCTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGATGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGTACCACCACACCCAACTAATTTTTGTTTTTTTTTTTTTTTTGGGGGGGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCCCACCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGAATTTCACCGTGTTAGTCAGGATGGTCTTGATCTCTTGACCTCGTGATCCGCCTGCCTCGGACTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTAATTTTTTTTTTTTTTTTTTTTTCAGTAGAAAAGGGGTTTCACTATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCATGATCTGCCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGCGCCCGGCATGGCTTCATCCTTTCAACACCTCTAAAAGGTAGGTATTATTATCCCCATTTTATAGATAAGGTAACTGAAGCTTAGAGAAGTTAGAAGACTTCTCAAATAAGCCAGTAAATGGAGCAGCCAGAATTCAAACCAAATAGTCCATCTCTAGTAGCCATGCTATTAACCACTCCCATCCACCAGTTCATTTGAGAGGAAATACCTCTTATTGGACTGGTCACAGATAAGGACAGAAGTATTCAAGTTTATATAAACCTGATTTTTAATCCCAGCTCTGCCACTTACTAGTTGTTTGACCTTGGGCAAGTTATTTAATCTCTCTGAGAGTCAGTCTCTATCCAATGAAAGGCGATAATAGTATCAGGATTAAAATATGCTCAAAAATTTATAGGACAGTGCCTAATGATCTCTGTTCTTAATATCAGACTTGATATAGGAGGTCAGAGGGAAGAAAACCCCACAGGAGCCCTGATGGGAAATCTGTGATCCCATCCCCAGCCTATAATCCCAGCTTCACCTGGAAAAAGTCCTGGGAAAACCCGCCAAGCAACAAAGCCCTCTTACCAATCTTCATCTGGAAATTGTTGAAGGAGTGCTCATTGATGTGCTTCATCTGCTCCATGAGCCGCATGGCGTAGTCAGCCAGGGCAGTGATGTGGGAGCGGCCCACCTGATCGTAGGTGCTGGCGTTCAGCCCTGAGGCAGCCATGTAGGTGCTACCAATCGTCTTGATCTTTTCCAGCTGCCGGAACCGCTCCTCGCTGATAATCTGAACAACACAAGGAGACCTGGCTGTCAAGGCAAAGACCCCAGACCCA
|
Task1_train_17531
|
A variant has been detected on Chromosome 12 in ADCY6 (adenylate cyclase 6). What is its effect — pathogenic or benign? If pathogenic, name the disease.
|
Pathogenic; Lethal congenital contracture syndrome 8
|
CCTCCCGAGTAGCTGGGATTACAGACATGTACCACCACACCCAACTAATTTTTGTTTTTTTTTTTTTTTTGGGGGGGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCCCACCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGAATTTCACCGTGTTAGTCAGGATGGTCTTGATCTCTTGACCTCGTGATCCGCCTGCCTCGGACTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTAATTTTTTTTTTTTTTTTTTTTTCAGTAGAAAAGGGGTTTCACTATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCATGATCTGCCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGCGCCCGGCATGGCTTCATCCTTTCAACACCTCTAAAAGGTAGGTATTATTATCCCCATTTTATAGATAAGGTAACTGAAGCTTAGAGAAGTTAGAAGACTTCTCAAATAAGCCAGTAAATGGAGCAGCCAGAATTCAAACCAAATAGTCCATCTCTAGTAGCCATGCTATTAACCACTCCCATCCACCAGTTCATTTGAGAGGAAATACCTCTTATTGGACTGGTCACAGATAAGGACAGAAGTATTCAAGTTTATATAAACCTGATTTTTAATCCCAGCTCTGCCACTTACTAGTTGTTTGACCTTGGGCAAGTTATTTAATCTCTCTGAGAGTCAGTCTCTATCCAATGAAAGGCGATAATAGTATCAGGATTAAAATATGCTCAAAAATTTATAGGACAGTGCCTAATGATCTCTGTTCTTAATATCAGACTTGATATAGGAGGTCAGAGGGAAGAAAACCCCACAGGAGCCCTGATGGGAAATCTGTGATCCCATCCCCAGCCTATAATCCCAGCTTCACCTGGAAAAAGTCCTGGGAAAACCCGCCAAGCAACAAAGCCCTCTTACCAATCTTCATCTGGAAATTGTTGAAGGAGTGCTCATTGATGTGCTTCATCTGCTCCATGAGCCGCATGGCGTAGTCAGCCAGGGCAGTGATGTGGGAGCGGCCCACCTGATCGTAGGTGCTGGCGTTCAGCCCTGAGGCAGCCATGTAGGTGCTACCAATCGTCTTGATCTTTTCCAGCTGCCGGAACCGCTCCTCGCTGATAATCTGAACAACACAAGGAGACCTGGCTGTCAAGGCAAAGACCCCAGACCCAGCCCTGCCCCAACACTCATTTCTTGCCACGCCTTGGCTGCCTTCCCCACTTCCCTGTCTCAAGAGCCCCCTTCCAGCTGCTGCTATCAGTGTAAGACTGAGGAGCTGGGAAAACAGGCAGCCTAGGACTCCAGGCAGGACTTGGGCATACAGCTTCAGAAGGTCCCTCCAGTAGCTCACTCACAGAACACAGACCCACAAGTGCAATATTAAGCAATTTCTCCAATCCTTACCTTTTGGGATACTGAGTCCCAGAGTGAGCAAGTGACTTCCCTCCAGAACAGTGAACAGCCCATTCCTGATCTGGATGTTCAGGACACTACCTCACATTTTGCTTCAATTTTCTCTATTCAGAGGACCATCTTGCTTGGTTGGTCTCATGAGGTTCTGTCCACAGACTATTGCCTTCTTCTTCAGTGACATCCACCTGGTACCTATCCTATCCCCCTACAGATCAAGTCCTCCCCTGCTCCCCAACAGTGATGACCCTGCCCCACTAGGGCTGACCCCCTTGCTGCCTCTGACACCTTCATGGGTTCTTGCCTCTGCCTCCACTGTGCATACCCTTACCCCTGATGACTCTGGGTCCCATCAAATCTCTCTCTCTCTTCCCAGTTCCACTCACCCATTCCAATCCCTGGTCTCCAAGTACCCCCCACTCTCTGCCACCACCAGCCAACTGGAAAAGTACCTCATCAAAGTCAGCGATGATCTCGTTGAGCAGCCGCAGGCACTCGACACCCTCATTGTTTGCCTCCAGCTCCACATAGAACTCAGAGAAGTTGGCAATGGAGGCAAACATAACAGCCACACACTCACACGACTGATAGTAGAGTTCATCATTGCGGCGCTCCCGGGCCAGGAAGTGGGCCGCCACGTCCTTGGGCAGAATGTTATGCAGCAGCCTCCGGTTGTATGCCTGTAGCTCCTCCATCTCCTCCTTCTCCCCTGTTGCCTGTGGACACCACACCCATCACCCATTGCCCGACATTCACAAGGGGTAGGTGTGGTGGCCAAGGCTTGGAAGTGCGGATAAGAGGGAATCACATAGAGAAAGAAAGGCCCAGACAGATGAGGCCTAAAGAACAGGCAAAGGGGTAAAGGGGGCAGGTAGAGGATGGGGCAGGGAGTAAGGGATGGGCACAGAGAAGGAATGGAACCAGGGTGGGCCTAGGTGTGGCCTGAGCCTTAGCCAGCTAGCACAAGATACATTTCTGGCCTGGCCCAGGCTCCGCCCCTAGGTTCCTCCTCTTCCCCCAAAGGCCCACACAGTCACCTGTAGTTTCCAGAGGAAGTCTAGGCGGGCAGTCGACTCCACCTGCTGAGCATGCAGATACAGCGCCAGCGCAAACACCAGCAGAATCACAGGGGTCATATATTTGAGGGCCACCCTCCCTGCAGCTGGACTAAGGATAAGCAGAGACATGCTTGGTGTCTGAAGGAGGCATCTAATGGCTCTACCCTTTGCTGCCTCGGAGCCCTCACTTACCAGTCCAGCCCATCAAAGGTCTCATTGGAAGAAGCCCTGGTAAGAAGATAGAAGAGACAAAGTCATCAGTGCTTCCTGGATTGCTGGGTGGGCACATGGAAGGGGAGACAAGAGACTGCATTTACTGAGCACATACTGTAAGTCAGGCATTGGGCCAGGGCTTTTACTTACATTAATTAACTCATTAAGAGTAGAGGTTAAGAAAACCTCTGCTCTTAGAGACTCCTCTACTTACCAGCTATGTGACCTGAGACAAGTCGCTTAACTCTCTAAGCCTCCTTCCTCATCAGTACAACAGGGATCAGATCTAAATAATGTATGTAAAAGGCTTAGCACAGTGCCTGCCATATAGTCAGCCTTCCATAAATGTTAGTTACTATAATCTTTACAACTACCCTGTGATTTAGGTGACATTGCCATTTTACAGATGAAGAAATTGAGGCTCAGAGAAGCTAACTCACCTGTCTAAAGTCACACAGCTAATGAGCAGCAGAGCAGGGATTCAAACCCAGCAGAGACCAGAGGCTTTTTCTACTACAACAAGCTATGGCCACATATCAAAGGAATGGGGTTTTGCAGAGGAAAAGCCAGTGTGGTGTCCCAGGCAAAGCCCCCAAGCAGGAATCAGAAGCTTTGGTTCCTAACCAGAGCCCTGCCACCAAGCAGCTGTATGTCCTATAGGTGGTTAAGATGGTGGATGTGAAAGCACCATGCAAATGTAAGAGGGAATTTTTTTTTTTAATGTCTAGCCTAAAGACACAAGGATTTCCCAGGACTAGGGTTTCCTTGGGGGTAACTATTTGGGGTCACATGCTGGGAGCTCCTCCATCTCCTCCCTTTCCCCCACAGGGGTGTTGTGGCATTCCAAGGCACAAGGGGCATGGGCACCAGAGAGGCTCACAGTGACCTAGAAAGGTGAGGGAAGCTCCTGGGGTATTAAAGGACCTGAGAATAAACTCACAAGCCATGGACGCCAAGCAGTAGGTCATAGTTGTCAAAGATGGTGGCTGGGGGACCCAGCAGAAGCAGCACCAAATAGATGAGCCCCAAGACAAAGATCATGGCCAACTTCCCGATGCTGCTGATGTGCAGGAAGACAGAGCTGGCCAAGAGACTCAGCAGCATGTTCCCGATGAAGTACTGCGGGGGTGGCAGAGGCAGCGTTGGGTGAAGGCAGAGGCCACAGCACCCTTGGGCAGGGAGAGCCCTGCACTCTCCTGCCTGACCTAACCTTCCCACCACACCCCTCAAACCCCCATATCCTCCACCTTCCATGCCCAGCCCCTACAACACA
|
CCTCCCGAGTAGCTGGGATTACAGACATGTACCACCACACCCAACTAATTTTTGTTTTTTTTTTTTTTTTGGGGGGGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCCCACCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGAATTTCACCGTGTTAGTCAGGATGGTCTTGATCTCTTGACCTCGTGATCCGCCTGCCTCGGACTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTAATTTTTTTTTTTTTTTTTTTTTCAGTAGAAAAGGGGTTTCACTATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCATGATCTGCCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCATGATCCACCGCGCCCGGCATGGCTTCATCCTTTCAACACCTCTAAAAGGTAGGTATTATTATCCCCATTTTATAGATAAGGTAACTGAAGCTTAGAGAAGTTAGAAGACTTCTCAAATAAGCCAGTAAATGGAGCAGCCAGAATTCAAACCAAATAGTCCATCTCTAGTAGCCATGCTATTAACCACTCCCATCCACCAGTTCATTTGAGAGGAAATACCTCTTATTGGACTGGTCACAGATAAGGACAGAAGTATTCAAGTTTATATAAACCTGATTTTTAATCCCAGCTCTGCCACTTACTAGTTGTTTGACCTTGGGCAAGTTATTTAATCTCTCTGAGAGTCAGTCTCTATCCAATGAAAGGCGATAATAGTATCAGGATTAAAATATGCTCAAAAATTTATAGGACAGTGCCTAATGATCTCTGTTCTTAATATCAGACTTGATATAGGAGGTCAGAGGGAAGAAAACCCCACAGGAGCCCTGATGGGAAATCTGTGATCCCATCCCCAGCCTATAATCCCAGCTTCACCTGGAAAAAGTCCTGGGAAAACCCGCCAAGCAACAAAGCCCTCTTACCAATCTTCATCTGGAAATTGTTGAAGGAGTGCTCATTGATGTGCTTCATCTGCTCCATGAGCCGCATGGCGTAGTCAGCCAGGGCAGTGATGTGGGAGCGGCCCACCTGATCGTAGGTGCTGGCGTTCAGCCCTGAGGCAGCCATGTAGGTGCTACCAATCGTCTTGATCTTTTCCAGCTGCCGGAACCGCTCCTCGCTGATAATCTGAACAACACAAGGAGACCTGGCTGTCAAGGCAAAGACCCCAGACCCAGCCCTGCCCCAACACTCATTTCTTGCCACGCCTTGGCTGCCTTCCCCACTTCCCTGTCTCAAGAGCCCCCTTCCAGCTGCTGCTATCAGTGTAAGACTGAGGAGCTGGGAAAACAGGCAGCCTAGGACTCCAGGCAGGACTTGGGCATACAGCTTCAGAAGGTCCCTCCAGTAGCTCACTCACAGAACACAGACCCACAAGTGCAATATTAAGCAATTTCTCCAATCCTTACCTTTTGGGATACTGAGTCCCAGAGTGAGCAAGTGACTTCCCTCCAGAACAGTGAACAGCCCATTCCTGATCTGGATGTTCAGGACACTACCTCACATTTTGCTTCAATTTTCTCTATTCAGAGGACCATCTTGCTTGGTTGGTCTCATGAGGTTCTGTCCACAGACTATTGCCTTCTTCTTCAGTGACATCCACCTGGTACCTATCCTATCCCCCTACAGATCAAGTCCTCCCCTGCTCCCCAACAGTGATGACCCTGCCCCACTAGGGCTGACCCCCTTGCTGCCTCTGACACCTTCATGGGTTCTTGCCTCTGCCTCCACTGTGCATACCCTTACCCCTGATGACTCTGGGTCCCATCAAATCTCTCTCTCTCTTCCCAGTTCCACTCACCCATTCCAATCCCTGGTCTCCAAGTACCCCCCACTCTCTGCCACCACCAGCCAACTGGAAAAGTACCTCATCAAAGTCAGCGATGATCTCGTTGAGCAGCCGCAGGCACTTGACACCCTCATTGTTTGCCTCCAGCTCCACATAGAACTCAGAGAAGTTGGCAATGGAGGCAAACATAACAGCCACACACTCACACGACTGATAGTAGAGTTCATCATTGCGGCGCTCCCGGGCCAGGAAGTGGGCCGCCACGTCCTTGGGCAGAATGTTATGCAGCAGCCTCCGGTTGTATGCCTGTAGCTCCTCCATCTCCTCCTTCTCCCCTGTTGCCTGTGGACACCACACCCATCACCCATTGCCCGACATTCACAAGGGGTAGGTGTGGTGGCCAAGGCTTGGAAGTGCGGATAAGAGGGAATCACATAGAGAAAGAAAGGCCCAGACAGATGAGGCCTAAAGAACAGGCAAAGGGGTAAAGGGGGCAGGTAGAGGATGGGGCAGGGAGTAAGGGATGGGCACAGAGAAGGAATGGAACCAGGGTGGGCCTAGGTGTGGCCTGAGCCTTAGCCAGCTAGCACAAGATACATTTCTGGCCTGGCCCAGGCTCCGCCCCTAGGTTCCTCCTCTTCCCCCAAAGGCCCACACAGTCACCTGTAGTTTCCAGAGGAAGTCTAGGCGGGCAGTCGACTCCACCTGCTGAGCATGCAGATACAGCGCCAGCGCAAACACCAGCAGAATCACAGGGGTCATATATTTGAGGGCCACCCTCCCTGCAGCTGGACTAAGGATAAGCAGAGACATGCTTGGTGTCTGAAGGAGGCATCTAATGGCTCTACCCTTTGCTGCCTCGGAGCCCTCACTTACCAGTCCAGCCCATCAAAGGTCTCATTGGAAGAAGCCCTGGTAAGAAGATAGAAGAGACAAAGTCATCAGTGCTTCCTGGATTGCTGGGTGGGCACATGGAAGGGGAGACAAGAGACTGCATTTACTGAGCACATACTGTAAGTCAGGCATTGGGCCAGGGCTTTTACTTACATTAATTAACTCATTAAGAGTAGAGGTTAAGAAAACCTCTGCTCTTAGAGACTCCTCTACTTACCAGCTATGTGACCTGAGACAAGTCGCTTAACTCTCTAAGCCTCCTTCCTCATCAGTACAACAGGGATCAGATCTAAATAATGTATGTAAAAGGCTTAGCACAGTGCCTGCCATATAGTCAGCCTTCCATAAATGTTAGTTACTATAATCTTTACAACTACCCTGTGATTTAGGTGACATTGCCATTTTACAGATGAAGAAATTGAGGCTCAGAGAAGCTAACTCACCTGTCTAAAGTCACACAGCTAATGAGCAGCAGAGCAGGGATTCAAACCCAGCAGAGACCAGAGGCTTTTTCTACTACAACAAGCTATGGCCACATATCAAAGGAATGGGGTTTTGCAGAGGAAAAGCCAGTGTGGTGTCCCAGGCAAAGCCCCCAAGCAGGAATCAGAAGCTTTGGTTCCTAACCAGAGCCCTGCCACCAAGCAGCTGTATGTCCTATAGGTGGTTAAGATGGTGGATGTGAAAGCACCATGCAAATGTAAGAGGGAATTTTTTTTTTTAATGTCTAGCCTAAAGACACAAGGATTTCCCAGGACTAGGGTTTCCTTGGGGGTAACTATTTGGGGTCACATGCTGGGAGCTCCTCCATCTCCTCCCTTTCCCCCACAGGGGTGTTGTGGCATTCCAAGGCACAAGGGGCATGGGCACCAGAGAGGCTCACAGTGACCTAGAAAGGTGAGGGAAGCTCCTGGGGTATTAAAGGACCTGAGAATAAACTCACAAGCCATGGACGCCAAGCAGTAGGTCATAGTTGTCAAAGATGGTGGCTGGGGGACCCAGCAGAAGCAGCACCAAATAGATGAGCCCCAAGACAAAGATCATGGCCAACTTCCCGATGCTGCTGATGTGCAGGAAGACAGAGCTGGCCAAGAGACTCAGCAGCATGTTCCCGATGAAGTACTGCGGGGGTGGCAGAGGCAGCGTTGGGTGAAGGCAGAGGCCACAGCACCCTTGGGCAGGGAGAGCCCTGCACTCTCCTGCCTGACCTAACCTTCCCACCACACCCCTCAAACCCCCATATCCTCCACCTTCCATGCCCAGCCCCTACAACACA
|
Task1_train_17532
|
Mutation context: Chromosome 12, Gene ARF3 (ARF GTPase 3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
|
Pathogenic; Atrophy/Degeneration affecting the central nervous system
|
ATGGAGGGTGAAGGGACAGCAAGGATGGTCTGAGGGCCTGGAAACAATAGAAAATCTTCGTCCTTTAGCATATCCTGGACTAGAAAACAAGAGTTGGAGAAGAGGGGGGTTGATACTAAGGTCAGCTATGTCACCCCACTTCCCAGCTCCTCATTAGAATACCCAGTCAGCCCTGGTCAGGCCAGTAGGAGTACTAGGGTGAGAAAATTCTGACCAAGGACAGATGACCCATCCAACCCCTAAGATCAGAAGGGTGGTGGGGCACTGGAAGGCAGGAATGGGATTGGCCCATGCCTCACCTTCTCCTAATAACAAAAGAGAATGAAGATGGAAAACCTCAGGCCTTCGCCTCCCTTCCCCCAATGCCCTGGGTCCCTAACACACACCATGGACTTGCCATCCCCACCCCCCAGTCAAGCTCCAGAGGAACAGATCTGAAGATGGTGGGGAAGGATCAGTTGAACACTCTAAGCTGATAAGAGTGAGTGGGTTCCTCTCTCCTTCCCAACAGTAAGGCAGAGCAGAGTGGCATCTCCTTGGGAACAGTCATCTAGAGATAAATGCCATCCTCCAGCCCTAAGAAGGGTGGAGAGAAGAGTACAAGGAAAATGGTGGTGAAGAATCCATCATCTGTCCTATCATCCAGAAAAACCTACCTGCAGAGAGGAGGGTAACCAGTCAAAGACTGGGGCAGTCCGGCTTGACTAATGCCCTCCCACCTTCTTCCCTTAATCTCACCAACACGGAAGGGGCAGATGACAGGCTCCAGTGGGCAGTGTCCTGGCTGCAAGCCCTGAGCTTCACTCCACCCCCTCCCCGCTCCCCCCGGCCCCCACAAATATATCTCTCTATACATGTATATACAGGCGCACACATGCACGCAAACACAGAGAGGCCCGTGCAATTTCCATGTAAAACAGGGAGAGGGTGGCAAAGGAAAGGCAAACAGGGAGTAGAAGGGCTTGTGGGGACAGGGAAAGGACTCAGATGCCAAGAGGACAGCAACCACTGCCAAACAAAGAGAATACCCCACTCGACCTCCCGAAACCCAGAGGGTGAGAGAGAGAGGGGCCACCCCATGAAACCGTAACAACTTTTTGTTTTAAATCCAGTAAATTGGAATGACTCATCATCAGGACAGCAATTAGGGATTGGTCATATAGGTGGACAGGAAAAAGGAGGGGAGGCAGGGGAGGCAAGGCTCTTGCTGGGCATGTGGACATGATACCCAGGGCCCTGGCCACACTTGCATGGAGAGGAAGGGGTAGGACTGGGGCAGGGTGACAGTAGGTATGTCAGGGGTGGGTGGGGTGCTTTGTTAGGGCTGTCTGGCTTTCACTTCTTGTTTTTGAGCTGATTGGCCAGCCAGTCCAGGCCTTCGTACAGCCCGTCCCCGCTGGTGGCACAGGTGGCCTGAATGTACCAGTTACGGTGACGAAGGGAATGCAGGCCCAGCTTGTCTGTGATCTCAGCAGCGTTCATAGCATTAGGCAGATCCTGGAGCACGTGGGAGACACATAAAAAGAAGCCTCAGGATTTTTTAAAGGCTTCTAGAACACCCATCTACCAAAGAAATGTGTACCAGCACCTTCCCCTCCTCCTTTATTTTAGGAAACCCAGAACAAGATCCTAAGGAGCTACTTTGGATTTAGTCACCTAGAACTCAAGATCCAAAGCACTAGAGGTCACTGTACTGAAGAATTGGAAACCAAATACGAGGATGGTGGGGAAGCAAGAGACGTGATTCAGACTGACCAAAGAATCAGGTCTGTCTGACAGCAGGAGTGAGGCCAATTCTCCTAAAGTAGATAACAGGCAAGATGAAAGAAAGATTTGAGACAATTCCTGAGGACTGAAATGTTGCTAAATAAAGCTTGGGGTGGGGCACAAGAAGAGGGGCATAAAGAAGCCAAGTGCTCAGTTTCCCACGCTTCTAACATTGAGAGCATACTAAAAGGGTTAACCATATAATAGGCCCAAGAGCCAACAATTTCCACAGCCAGTTTGCTGTCTCCCAAATTCAGGGGTGGGAAGAAGTCTCACCTGTTTGTTTGCAAAGACAAGGAGTACAGCATCCCGGAGCTCGTCCTCCGCCAGCATTCTCATCAGCTCTTCCCGGGCCTCATTTACTCGCTCCCGATCATTGCTGTCGACCACAAATATCAACCCTAGGAAGGCAGAGCATGGGCTGCACTAAGATGACAGGTAACCCCCTCCCCCCAACCAAAAGACCACACCTGCCTGACACCCTCCAAATATTTGCTCCCTTTCCTCCCTTTCTTCTGCCCCCAGGAGCTGCAGCAGGGTAACAGTTGGCCACCCATTAACAAAGACAGCCACACTCTCTGCTCATACCCAACCAACCCACGCTAGGCCTGAGCATACCTTGGGTGTTCTGGAAGTAGTGTCTCCAGAGGGGTCGAATCTTGTCCTGGCCACCCACATCCCACACTGTAAAGCTGATGTTCTTATACTCCACTGTCTCCACATTGAACCCTTTGGAAAAAAAACAGGCAATGGCCACTTGGCCTCAAACACTAGCCCCGCAAACACCACCACAATGAGTTTGGTTCTGCTTTCCCCCAGTGGTGGCCATAACACCAACAATGGAACAAAAGCTAAGGCTTCCTCAGACCTGATAATCGTTAAGCTAGCAGCCTGAAGGCCAAAATGAAAACCTAAGAGAAGTCAAAGAGGATGAGGAAGTTGGTTGAGAGGTTCACAGTTGCCTGGGTAACGTGGGCCAACTTTCCTGACTTTTCCACTCAGTCTTTGGTGCTCCCTCCTACAAAATGACTCAGCCCTGCTCTGGTACTTTGGCTACCAGAGTCGGCCTCAGCTAAGATGTGGGGCCTGAGAGGCAGAGTGAAGAAAGGGAAGTAAGCTGGCATCCTGGAGCCCCAAAGGCAGAGCCAGCTGACAATGCTGACTGGAGCCCCCATCTACATAGCAAATGTAGGGAGACCTCCCTTCAGCAAACTGTAACCAAGATTGGCCACCAAAGATCTAAACCCAAGTAATTCCAAGCCTTTGGCAGGAACATCAAAGCCTTTTACCTGCTTTCCAAACAACACAGAGAAGAAACCAACTCCGTGCCTGAGGGCAGCTGTTGAGTGCCAGGCCATGGAAGTTCCCGCATCAGGGAGAGCCAGGTTAGGTGGGCAAACAGCAGCCTCAGCACCTGGTAGTAAGCTAAACAACACCACCCTCTTTTCTGAACCCCACAAATTGTATGGACTTGCCTGGGGAGAAGAGGCCAGGTTGGGGAACCAGGAATAGGTCCCTGCCCTGCCTCAGCTGCCGGCGTGAAAGCCCACATCCAAGCTGTGCTCTTACCAATGGTAGGGATGGTGGTGACGATCTCCCCGAGTTTCAGCTTGTATAGGATGGTGGTCTTTCCTGCGGCATCCAGGCCCACCATCAGGATGCGCATCTCCTTCTTCCCAATCAGGCTCTTGAGAAGGTTTCCAAAGATATTGCCCATGATCACAGCAGCTGCTTTCTGGGGACAGTGGGGCCCAAGTAGGGGCAGTGGCAGTCTGGTTTTGGCCTGGTCCCTGGTATGGAAGACTTGATCCTAGACAAAGGAAATGTAAAATCATACCATCATTTGCTTGTCAGGACTTCCAAGTAAATAGAATTTCCCAAGGTCATGGCTAGAGTTCATTCATGACAAACGGAGAGCCTGAGGGGACTATAAATACCAAGGCCCACTCAGATACATACTGAGTCTTTGGGAACAGAGACAAAGCAGTAAACACTAAGGATCCCTGCTCTGCCAGTAATCTAACCATGTGACTCTGGGCAAGTTACTTCACTTTTCCATATCTGCACCTGTAAATGGAAGGGGGATTGAACTAGATGATTTCTGAAGTCCCTTCAGTTCTGACATTCTACCCTATACCCAAAGGCATTGTAAGATCATTAATGCCCCTCCCTCCCCTAACCTTACTTACCCTGAGACTTCTGGCAAGGGTGGGAGAGGAGGGAGCGGAATAAGGAGTGGCTCTCTGTGACTCCTGACAAGGTTCAGGCTTGCCAGTTTCCCAAGGTTTATGCTTTCTCCTTTAATCAAGAGACTCTGCCTCTTCCCTTC
|
ATGGAGGGTGAAGGGACAGCAAGGATGGTCTGAGGGCCTGGAAACAATAGAAAATCTTCGTCCTTTAGCATATCCTGGACTAGAAAACAAGAGTTGGAGAAGAGGGGGGTTGATACTAAGGTCAGCTATGTCACCCCACTTCCCAGCTCCTCATTAGAATACCCAGTCAGCCCTGGTCAGGCCAGTAGGAGTACTAGGGTGAGAAAATTCTGACCAAGGACAGATGACCCATCCAACCCCTAAGATCAGAAGGGTGGTGGGGCACTGGAAGGCAGGAATGGGATTGGCCCATGCCTCACCTTCTCCTAATAACAAAAGAGAATGAAGATGGAAAACCTCAGGCCTTCGCCTCCCTTCCCCCAATGCCCTGGGTCCCTAACACACACCATGGACTTGCCATCCCCACCCCCCAGTCAAGCTCCAGAGGAACAGATCTGAAGATGGTGGGGAAGGATCAGTTGAACACTCTAAGCTGATAAGAGTGAGTGGGTTCCTCTCTCCTTCCCAACAGTAAGGCAGAGCAGAGTGGCATCTCCTTGGGAACAGTCATCTAGAGATAAATGCCATCCTCCAGCCCTAAGAAGGGTGGAGAGAAGAGTACAAGGAAAATGGTGGTGAAGAATCCATCATCTGTCCTATCATCCAGAAAAACCTACCTGCAGAGAGGAGGGTAACCAGTCAAAGACTGGGGCAGTCCGGCTTGACTAATGCCCTCCCACCTTCTTCCCTTAATCTCACCAACACGGAAGGGGCAGATGACAGGCTCCAGTGGGCAGTGTCCTGGCTGCAAGCCCTGAGCTTCACTCCACCCCCTCCCCGCTCCCCCCGGCCCCCACAAATATATCTCTCTATACATGTATATACAGGCGCACACATGCACGCAAACACAGAGAGGCCCGTGCAATTTCCATGTAAAACAGGGAGAGGGTGGCAAAGGAAAGGCAAACAGGGAGTAGAAGGGCTTGTGGGGACAGGGAAAGGACTCAGATGCCAAGAGGACAGCAACCACTGCCAAACAAAGAGAATACCCCACTCGACCTCCCGAAACCCAGAGGGTGAGAGAGAGAGGGGCCACCCCATGAAACCGTAACAACTTTTTGTTTTAAATCCAGTAAATTGGAATGACTCATCATCAGGACAGCAATTAGGGATTGGTCATATAGGTGGACAGGAAAAAGGAGGGGAGGCAGGGGAGGCAAGGCTCTTGCTGGGCATGTGGACATGATACCCAGGGCCCTGGCCACACTTGCATGGAGAGGAAGGGGTAGGACTGGGGCAGGGTGACAGTAGGTATGTCAGGGGTGGGTGGGGTGCTTTGTTAGGGCTGTCTGGCTTTCACTTCTTGTTTTTGAGCTGATTGGCCAGCCAGTCCAGGCCTTCGTACAGCCCGTCCCCGCTGGTGGCACAGGTGGCCTGAATGTACCAGTTACGGTGACGAAGGGAATGCAGGCCCAGCTTGTCTGTGATCTCAGCAGCGTTCATAGCATTAGGCAGATCCTGGAGCACGTGGGAGACACATAAAAAGAAGCCTCAGGATTTTTTAAAGGCTTCTAGAACACCCATCTACCAAAGAAATGTGTACCAGCACCTTCCCCTCCTCCTTTATTTTAGGAAACCCAGAACAAGATCCTAAGGAGCTACTTTGGATTTAGTCACCTAGAACTCAAGATCCAAAGCACTAGAGGTCACTGTACTGAAGAATTGGAAACCAAATACGAGGATGGTGGGGAAGCAAGAGACGTGATTCAGACTGACCAAAGAATCAGGTCTGTCTGACAGCAGGAGTGAGGCCAATTCTCCTAAAGTAGATAACAGGCAAGATGAAAGAAAGATTTGAGACAATTCCTGAGGACTGAAATGTTGCTAAATAAAGCTTGGGGTGGGGCACAAGAAGAGGGGCATAAAGAAGCCAAGTGCTCAGTTTCCCACGCTTCTAACATTGAGAGCATACTAAAAGGGTTAACCATATAATAGGCCCAAGAGCCAACAATTTCCACAGCCAGTTTGCTGTCTCCCAAATTCAGGGGTGGGAAGAAGTCTCACCTGTTCGTTTGCAAAGACAAGGAGTACAGCATCCCGGAGCTCGTCCTCCGCCAGCATTCTCATCAGCTCTTCCCGGGCCTCATTTACTCGCTCCCGATCATTGCTGTCGACCACAAATATCAACCCTAGGAAGGCAGAGCATGGGCTGCACTAAGATGACAGGTAACCCCCTCCCCCCAACCAAAAGACCACACCTGCCTGACACCCTCCAAATATTTGCTCCCTTTCCTCCCTTTCTTCTGCCCCCAGGAGCTGCAGCAGGGTAACAGTTGGCCACCCATTAACAAAGACAGCCACACTCTCTGCTCATACCCAACCAACCCACGCTAGGCCTGAGCATACCTTGGGTGTTCTGGAAGTAGTGTCTCCAGAGGGGTCGAATCTTGTCCTGGCCACCCACATCCCACACTGTAAAGCTGATGTTCTTATACTCCACTGTCTCCACATTGAACCCTTTGGAAAAAAAACAGGCAATGGCCACTTGGCCTCAAACACTAGCCCCGCAAACACCACCACAATGAGTTTGGTTCTGCTTTCCCCCAGTGGTGGCCATAACACCAACAATGGAACAAAAGCTAAGGCTTCCTCAGACCTGATAATCGTTAAGCTAGCAGCCTGAAGGCCAAAATGAAAACCTAAGAGAAGTCAAAGAGGATGAGGAAGTTGGTTGAGAGGTTCACAGTTGCCTGGGTAACGTGGGCCAACTTTCCTGACTTTTCCACTCAGTCTTTGGTGCTCCCTCCTACAAAATGACTCAGCCCTGCTCTGGTACTTTGGCTACCAGAGTCGGCCTCAGCTAAGATGTGGGGCCTGAGAGGCAGAGTGAAGAAAGGGAAGTAAGCTGGCATCCTGGAGCCCCAAAGGCAGAGCCAGCTGACAATGCTGACTGGAGCCCCCATCTACATAGCAAATGTAGGGAGACCTCCCTTCAGCAAACTGTAACCAAGATTGGCCACCAAAGATCTAAACCCAAGTAATTCCAAGCCTTTGGCAGGAACATCAAAGCCTTTTACCTGCTTTCCAAACAACACAGAGAAGAAACCAACTCCGTGCCTGAGGGCAGCTGTTGAGTGCCAGGCCATGGAAGTTCCCGCATCAGGGAGAGCCAGGTTAGGTGGGCAAACAGCAGCCTCAGCACCTGGTAGTAAGCTAAACAACACCACCCTCTTTTCTGAACCCCACAAATTGTATGGACTTGCCTGGGGAGAAGAGGCCAGGTTGGGGAACCAGGAATAGGTCCCTGCCCTGCCTCAGCTGCCGGCGTGAAAGCCCACATCCAAGCTGTGCTCTTACCAATGGTAGGGATGGTGGTGACGATCTCCCCGAGTTTCAGCTTGTATAGGATGGTGGTCTTTCCTGCGGCATCCAGGCCCACCATCAGGATGCGCATCTCCTTCTTCCCAATCAGGCTCTTGAGAAGGTTTCCAAAGATATTGCCCATGATCACAGCAGCTGCTTTCTGGGGACAGTGGGGCCCAAGTAGGGGCAGTGGCAGTCTGGTTTTGGCCTGGTCCCTGGTATGGAAGACTTGATCCTAGACAAAGGAAATGTAAAATCATACCATCATTTGCTTGTCAGGACTTCCAAGTAAATAGAATTTCCCAAGGTCATGGCTAGAGTTCATTCATGACAAACGGAGAGCCTGAGGGGACTATAAATACCAAGGCCCACTCAGATACATACTGAGTCTTTGGGAACAGAGACAAAGCAGTAAACACTAAGGATCCCTGCTCTGCCAGTAATCTAACCATGTGACTCTGGGCAAGTTACTTCACTTTTCCATATCTGCACCTGTAAATGGAAGGGGGATTGAACTAGATGATTTCTGAAGTCCCTTCAGTTCTGACATTCTACCCTATACCCAAAGGCATTGTAAGATCATTAATGCCCCTCCCTCCCCTAACCTTACTTACCCTGAGACTTCTGGCAAGGGTGGGAGAGGAGGGAGCGGAATAAGGAGTGGCTCTCTGTGACTCCTGACAAGGTTCAGGCTTGCCAGTTTCCCAAGGTTTATGCTTTCTCCTTTAATCAAGAGACTCTGCCTCTTCCCTTC
|
Task1_train_17533
|
This sequence variant lies in ARF3 (ARF GTPase 3) on Chromosome 12. Is it clinically significant, and what condition might it cause if any?
|
Pathogenic; Hypotonia
|
ATGGAGGGTGAAGGGACAGCAAGGATGGTCTGAGGGCCTGGAAACAATAGAAAATCTTCGTCCTTTAGCATATCCTGGACTAGAAAACAAGAGTTGGAGAAGAGGGGGGTTGATACTAAGGTCAGCTATGTCACCCCACTTCCCAGCTCCTCATTAGAATACCCAGTCAGCCCTGGTCAGGCCAGTAGGAGTACTAGGGTGAGAAAATTCTGACCAAGGACAGATGACCCATCCAACCCCTAAGATCAGAAGGGTGGTGGGGCACTGGAAGGCAGGAATGGGATTGGCCCATGCCTCACCTTCTCCTAATAACAAAAGAGAATGAAGATGGAAAACCTCAGGCCTTCGCCTCCCTTCCCCCAATGCCCTGGGTCCCTAACACACACCATGGACTTGCCATCCCCACCCCCCAGTCAAGCTCCAGAGGAACAGATCTGAAGATGGTGGGGAAGGATCAGTTGAACACTCTAAGCTGATAAGAGTGAGTGGGTTCCTCTCTCCTTCCCAACAGTAAGGCAGAGCAGAGTGGCATCTCCTTGGGAACAGTCATCTAGAGATAAATGCCATCCTCCAGCCCTAAGAAGGGTGGAGAGAAGAGTACAAGGAAAATGGTGGTGAAGAATCCATCATCTGTCCTATCATCCAGAAAAACCTACCTGCAGAGAGGAGGGTAACCAGTCAAAGACTGGGGCAGTCCGGCTTGACTAATGCCCTCCCACCTTCTTCCCTTAATCTCACCAACACGGAAGGGGCAGATGACAGGCTCCAGTGGGCAGTGTCCTGGCTGCAAGCCCTGAGCTTCACTCCACCCCCTCCCCGCTCCCCCCGGCCCCCACAAATATATCTCTCTATACATGTATATACAGGCGCACACATGCACGCAAACACAGAGAGGCCCGTGCAATTTCCATGTAAAACAGGGAGAGGGTGGCAAAGGAAAGGCAAACAGGGAGTAGAAGGGCTTGTGGGGACAGGGAAAGGACTCAGATGCCAAGAGGACAGCAACCACTGCCAAACAAAGAGAATACCCCACTCGACCTCCCGAAACCCAGAGGGTGAGAGAGAGAGGGGCCACCCCATGAAACCGTAACAACTTTTTGTTTTAAATCCAGTAAATTGGAATGACTCATCATCAGGACAGCAATTAGGGATTGGTCATATAGGTGGACAGGAAAAAGGAGGGGAGGCAGGGGAGGCAAGGCTCTTGCTGGGCATGTGGACATGATACCCAGGGCCCTGGCCACACTTGCATGGAGAGGAAGGGGTAGGACTGGGGCAGGGTGACAGTAGGTATGTCAGGGGTGGGTGGGGTGCTTTGTTAGGGCTGTCTGGCTTTCACTTCTTGTTTTTGAGCTGATTGGCCAGCCAGTCCAGGCCTTCGTACAGCCCGTCCCCGCTGGTGGCACAGGTGGCCTGAATGTACCAGTTACGGTGACGAAGGGAATGCAGGCCCAGCTTGTCTGTGATCTCAGCAGCGTTCATAGCATTAGGCAGATCCTGGAGCACGTGGGAGACACATAAAAAGAAGCCTCAGGATTTTTTAAAGGCTTCTAGAACACCCATCTACCAAAGAAATGTGTACCAGCACCTTCCCCTCCTCCTTTATTTTAGGAAACCCAGAACAAGATCCTAAGGAGCTACTTTGGATTTAGTCACCTAGAACTCAAGATCCAAAGCACTAGAGGTCACTGTACTGAAGAATTGGAAACCAAATACGAGGATGGTGGGGAAGCAAGAGACGTGATTCAGACTGACCAAAGAATCAGGTCTGTCTGACAGCAGGAGTGAGGCCAATTCTCCTAAAGTAGATAACAGGCAAGATGAAAGAAAGATTTGAGACAATTCCTGAGGACTGAAATGTTGCTAAATAAAGCTTGGGGTGGGGCACAAGAAGAGGGGCATAAAGAAGCCAAGTGCTCAGTTTCCCACGCTTCTAACATTGAGAGCATACTAAAAGGGTTAACCATATAATAGGCCCAAGAGCCAACAATTTCCACAGCCAGTTTGCTGTCTCCCAAATTCAGGGGTGGGAAGAAGTCTCACCTGTTTGTTTGCAAAGACAAGGAGTACAGCATCCCGGAGCTCGTCCTCCGCCAGCATTCTCATCAGCTCTTCCCGGGCCTCATTTACTCGCTCCCGATCATTGCTGTCGACCACAAATATCAACCCTAGGAAGGCAGAGCATGGGCTGCACTAAGATGACAGGTAACCCCCTCCCCCCAACCAAAAGACCACACCTGCCTGACACCCTCCAAATATTTGCTCCCTTTCCTCCCTTTCTTCTGCCCCCAGGAGCTGCAGCAGGGTAACAGTTGGCCACCCATTAACAAAGACAGCCACACTCTCTGCTCATACCCAACCAACCCACGCTAGGCCTGAGCATACCTTGGGTGTTCTGGAAGTAGTGTCTCCAGAGGGGTCGAATCTTGTCCTGGCCACCCACATCCCACACTGTAAAGCTGATGTTCTTATACTCCACTGTCTCCACATTGAACCCTTTGGAAAAAAAACAGGCAATGGCCACTTGGCCTCAAACACTAGCCCCGCAAACACCACCACAATGAGTTTGGTTCTGCTTTCCCCCAGTGGTGGCCATAACACCAACAATGGAACAAAAGCTAAGGCTTCCTCAGACCTGATAATCGTTAAGCTAGCAGCCTGAAGGCCAAAATGAAAACCTAAGAGAAGTCAAAGAGGATGAGGAAGTTGGTTGAGAGGTTCACAGTTGCCTGGGTAACGTGGGCCAACTTTCCTGACTTTTCCACTCAGTCTTTGGTGCTCCCTCCTACAAAATGACTCAGCCCTGCTCTGGTACTTTGGCTACCAGAGTCGGCCTCAGCTAAGATGTGGGGCCTGAGAGGCAGAGTGAAGAAAGGGAAGTAAGCTGGCATCCTGGAGCCCCAAAGGCAGAGCCAGCTGACAATGCTGACTGGAGCCCCCATCTACATAGCAAATGTAGGGAGACCTCCCTTCAGCAAACTGTAACCAAGATTGGCCACCAAAGATCTAAACCCAAGTAATTCCAAGCCTTTGGCAGGAACATCAAAGCCTTTTACCTGCTTTCCAAACAACACAGAGAAGAAACCAACTCCGTGCCTGAGGGCAGCTGTTGAGTGCCAGGCCATGGAAGTTCCCGCATCAGGGAGAGCCAGGTTAGGTGGGCAAACAGCAGCCTCAGCACCTGGTAGTAAGCTAAACAACACCACCCTCTTTTCTGAACCCCACAAATTGTATGGACTTGCCTGGGGAGAAGAGGCCAGGTTGGGGAACCAGGAATAGGTCCCTGCCCTGCCTCAGCTGCCGGCGTGAAAGCCCACATCCAAGCTGTGCTCTTACCAATGGTAGGGATGGTGGTGACGATCTCCCCGAGTTTCAGCTTGTATAGGATGGTGGTCTTTCCTGCGGCATCCAGGCCCACCATCAGGATGCGCATCTCCTTCTTCCCAATCAGGCTCTTGAGAAGGTTTCCAAAGATATTGCCCATGATCACAGCAGCTGCTTTCTGGGGACAGTGGGGCCCAAGTAGGGGCAGTGGCAGTCTGGTTTTGGCCTGGTCCCTGGTATGGAAGACTTGATCCTAGACAAAGGAAATGTAAAATCATACCATCATTTGCTTGTCAGGACTTCCAAGTAAATAGAATTTCCCAAGGTCATGGCTAGAGTTCATTCATGACAAACGGAGAGCCTGAGGGGACTATAAATACCAAGGCCCACTCAGATACATACTGAGTCTTTGGGAACAGAGACAAAGCAGTAAACACTAAGGATCCCTGCTCTGCCAGTAATCTAACCATGTGACTCTGGGCAAGTTACTTCACTTTTCCATATCTGCACCTGTAAATGGAAGGGGGATTGAACTAGATGATTTCTGAAGTCCCTTCAGTTCTGACATTCTACCCTATACCCAAAGGCATTGTAAGATCATTAATGCCCCTCCCTCCCCTAACCTTACTTACCCTGAGACTTCTGGCAAGGGTGGGAGAGGAGGGAGCGGAATAAGGAGTGGCTCTCTGTGACTCCTGACAAGGTTCAGGCTTGCCAGTTTCCCAAGGTTTATGCTTTCTCCTTTAATCAAGAGACTCTGCCTCTTCCCTTC
|
ATGGAGGGTGAAGGGACAGCAAGGATGGTCTGAGGGCCTGGAAACAATAGAAAATCTTCGTCCTTTAGCATATCCTGGACTAGAAAACAAGAGTTGGAGAAGAGGGGGGTTGATACTAAGGTCAGCTATGTCACCCCACTTCCCAGCTCCTCATTAGAATACCCAGTCAGCCCTGGTCAGGCCAGTAGGAGTACTAGGGTGAGAAAATTCTGACCAAGGACAGATGACCCATCCAACCCCTAAGATCAGAAGGGTGGTGGGGCACTGGAAGGCAGGAATGGGATTGGCCCATGCCTCACCTTCTCCTAATAACAAAAGAGAATGAAGATGGAAAACCTCAGGCCTTCGCCTCCCTTCCCCCAATGCCCTGGGTCCCTAACACACACCATGGACTTGCCATCCCCACCCCCCAGTCAAGCTCCAGAGGAACAGATCTGAAGATGGTGGGGAAGGATCAGTTGAACACTCTAAGCTGATAAGAGTGAGTGGGTTCCTCTCTCCTTCCCAACAGTAAGGCAGAGCAGAGTGGCATCTCCTTGGGAACAGTCATCTAGAGATAAATGCCATCCTCCAGCCCTAAGAAGGGTGGAGAGAAGAGTACAAGGAAAATGGTGGTGAAGAATCCATCATCTGTCCTATCATCCAGAAAAACCTACCTGCAGAGAGGAGGGTAACCAGTCAAAGACTGGGGCAGTCCGGCTTGACTAATGCCCTCCCACCTTCTTCCCTTAATCTCACCAACACGGAAGGGGCAGATGACAGGCTCCAGTGGGCAGTGTCCTGGCTGCAAGCCCTGAGCTTCACTCCACCCCCTCCCCGCTCCCCCCGGCCCCCACAAATATATCTCTCTATACATGTATATACAGGCGCACACATGCACGCAAACACAGAGAGGCCCGTGCAATTTCCATGTAAAACAGGGAGAGGGTGGCAAAGGAAAGGCAAACAGGGAGTAGAAGGGCTTGTGGGGACAGGGAAAGGACTCAGATGCCAAGAGGACAGCAACCACTGCCAAACAAAGAGAATACCCCACTCGACCTCCCGAAACCCAGAGGGTGAGAGAGAGAGGGGCCACCCCATGAAACCGTAACAACTTTTTGTTTTAAATCCAGTAAATTGGAATGACTCATCATCAGGACAGCAATTAGGGATTGGTCATATAGGTGGACAGGAAAAAGGAGGGGAGGCAGGGGAGGCAAGGCTCTTGCTGGGCATGTGGACATGATACCCAGGGCCCTGGCCACACTTGCATGGAGAGGAAGGGGTAGGACTGGGGCAGGGTGACAGTAGGTATGTCAGGGGTGGGTGGGGTGCTTTGTTAGGGCTGTCTGGCTTTCACTTCTTGTTTTTGAGCTGATTGGCCAGCCAGTCCAGGCCTTCGTACAGCCCGTCCCCGCTGGTGGCACAGGTGGCCTGAATGTACCAGTTACGGTGACGAAGGGAATGCAGGCCCAGCTTGTCTGTGATCTCAGCAGCGTTCATAGCATTAGGCAGATCCTGGAGCACGTGGGAGACACATAAAAAGAAGCCTCAGGATTTTTTAAAGGCTTCTAGAACACCCATCTACCAAAGAAATGTGTACCAGCACCTTCCCCTCCTCCTTTATTTTAGGAAACCCAGAACAAGATCCTAAGGAGCTACTTTGGATTTAGTCACCTAGAACTCAAGATCCAAAGCACTAGAGGTCACTGTACTGAAGAATTGGAAACCAAATACGAGGATGGTGGGGAAGCAAGAGACGTGATTCAGACTGACCAAAGAATCAGGTCTGTCTGACAGCAGGAGTGAGGCCAATTCTCCTAAAGTAGATAACAGGCAAGATGAAAGAAAGATTTGAGACAATTCCTGAGGACTGAAATGTTGCTAAATAAAGCTTGGGGTGGGGCACAAGAAGAGGGGCATAAAGAAGCCAAGTGCTCAGTTTCCCACGCTTCTAACATTGAGAGCATACTAAAAGGGTTAACCATATAATAGGCCCAAGAGCCAACAATTTCCACAGCCAGTTTGCTGTCTCCCAAATTCAGGGGTGGGAAGAAGTCTCACCTGTTCGTTTGCAAAGACAAGGAGTACAGCATCCCGGAGCTCGTCCTCCGCCAGCATTCTCATCAGCTCTTCCCGGGCCTCATTTACTCGCTCCCGATCATTGCTGTCGACCACAAATATCAACCCTAGGAAGGCAGAGCATGGGCTGCACTAAGATGACAGGTAACCCCCTCCCCCCAACCAAAAGACCACACCTGCCTGACACCCTCCAAATATTTGCTCCCTTTCCTCCCTTTCTTCTGCCCCCAGGAGCTGCAGCAGGGTAACAGTTGGCCACCCATTAACAAAGACAGCCACACTCTCTGCTCATACCCAACCAACCCACGCTAGGCCTGAGCATACCTTGGGTGTTCTGGAAGTAGTGTCTCCAGAGGGGTCGAATCTTGTCCTGGCCACCCACATCCCACACTGTAAAGCTGATGTTCTTATACTCCACTGTCTCCACATTGAACCCTTTGGAAAAAAAACAGGCAATGGCCACTTGGCCTCAAACACTAGCCCCGCAAACACCACCACAATGAGTTTGGTTCTGCTTTCCCCCAGTGGTGGCCATAACACCAACAATGGAACAAAAGCTAAGGCTTCCTCAGACCTGATAATCGTTAAGCTAGCAGCCTGAAGGCCAAAATGAAAACCTAAGAGAAGTCAAAGAGGATGAGGAAGTTGGTTGAGAGGTTCACAGTTGCCTGGGTAACGTGGGCCAACTTTCCTGACTTTTCCACTCAGTCTTTGGTGCTCCCTCCTACAAAATGACTCAGCCCTGCTCTGGTACTTTGGCTACCAGAGTCGGCCTCAGCTAAGATGTGGGGCCTGAGAGGCAGAGTGAAGAAAGGGAAGTAAGCTGGCATCCTGGAGCCCCAAAGGCAGAGCCAGCTGACAATGCTGACTGGAGCCCCCATCTACATAGCAAATGTAGGGAGACCTCCCTTCAGCAAACTGTAACCAAGATTGGCCACCAAAGATCTAAACCCAAGTAATTCCAAGCCTTTGGCAGGAACATCAAAGCCTTTTACCTGCTTTCCAAACAACACAGAGAAGAAACCAACTCCGTGCCTGAGGGCAGCTGTTGAGTGCCAGGCCATGGAAGTTCCCGCATCAGGGAGAGCCAGGTTAGGTGGGCAAACAGCAGCCTCAGCACCTGGTAGTAAGCTAAACAACACCACCCTCTTTTCTGAACCCCACAAATTGTATGGACTTGCCTGGGGAGAAGAGGCCAGGTTGGGGAACCAGGAATAGGTCCCTGCCCTGCCTCAGCTGCCGGCGTGAAAGCCCACATCCAAGCTGTGCTCTTACCAATGGTAGGGATGGTGGTGACGATCTCCCCGAGTTTCAGCTTGTATAGGATGGTGGTCTTTCCTGCGGCATCCAGGCCCACCATCAGGATGCGCATCTCCTTCTTCCCAATCAGGCTCTTGAGAAGGTTTCCAAAGATATTGCCCATGATCACAGCAGCTGCTTTCTGGGGACAGTGGGGCCCAAGTAGGGGCAGTGGCAGTCTGGTTTTGGCCTGGTCCCTGGTATGGAAGACTTGATCCTAGACAAAGGAAATGTAAAATCATACCATCATTTGCTTGTCAGGACTTCCAAGTAAATAGAATTTCCCAAGGTCATGGCTAGAGTTCATTCATGACAAACGGAGAGCCTGAGGGGACTATAAATACCAAGGCCCACTCAGATACATACTGAGTCTTTGGGAACAGAGACAAAGCAGTAAACACTAAGGATCCCTGCTCTGCCAGTAATCTAACCATGTGACTCTGGGCAAGTTACTTCACTTTTCCATATCTGCACCTGTAAATGGAAGGGGGATTGAACTAGATGATTTCTGAAGTCCCTTCAGTTCTGACATTCTACCCTATACCCAAAGGCATTGTAAGATCATTAATGCCCCTCCCTCCCCTAACCTTACTTACCCTGAGACTTCTGGCAAGGGTGGGAGAGGAGGGAGCGGAATAAGGAGTGGCTCTCTGTGACTCCTGACAAGGTTCAGGCTTGCCAGTTTCCCAAGGTTTATGCTTTCTCCTTTAATCAAGAGACTCTGCCTCTTCCCTTC
|
Task1_train_17534
|
This sequence variant lies in ARF3 (ARF GTPase 3) on Chromosome 12. Is it clinically significant, and what condition might it cause if any?
|
Pathogenic; Heart, malformation of
|
ATGGAGGGTGAAGGGACAGCAAGGATGGTCTGAGGGCCTGGAAACAATAGAAAATCTTCGTCCTTTAGCATATCCTGGACTAGAAAACAAGAGTTGGAGAAGAGGGGGGTTGATACTAAGGTCAGCTATGTCACCCCACTTCCCAGCTCCTCATTAGAATACCCAGTCAGCCCTGGTCAGGCCAGTAGGAGTACTAGGGTGAGAAAATTCTGACCAAGGACAGATGACCCATCCAACCCCTAAGATCAGAAGGGTGGTGGGGCACTGGAAGGCAGGAATGGGATTGGCCCATGCCTCACCTTCTCCTAATAACAAAAGAGAATGAAGATGGAAAACCTCAGGCCTTCGCCTCCCTTCCCCCAATGCCCTGGGTCCCTAACACACACCATGGACTTGCCATCCCCACCCCCCAGTCAAGCTCCAGAGGAACAGATCTGAAGATGGTGGGGAAGGATCAGTTGAACACTCTAAGCTGATAAGAGTGAGTGGGTTCCTCTCTCCTTCCCAACAGTAAGGCAGAGCAGAGTGGCATCTCCTTGGGAACAGTCATCTAGAGATAAATGCCATCCTCCAGCCCTAAGAAGGGTGGAGAGAAGAGTACAAGGAAAATGGTGGTGAAGAATCCATCATCTGTCCTATCATCCAGAAAAACCTACCTGCAGAGAGGAGGGTAACCAGTCAAAGACTGGGGCAGTCCGGCTTGACTAATGCCCTCCCACCTTCTTCCCTTAATCTCACCAACACGGAAGGGGCAGATGACAGGCTCCAGTGGGCAGTGTCCTGGCTGCAAGCCCTGAGCTTCACTCCACCCCCTCCCCGCTCCCCCCGGCCCCCACAAATATATCTCTCTATACATGTATATACAGGCGCACACATGCACGCAAACACAGAGAGGCCCGTGCAATTTCCATGTAAAACAGGGAGAGGGTGGCAAAGGAAAGGCAAACAGGGAGTAGAAGGGCTTGTGGGGACAGGGAAAGGACTCAGATGCCAAGAGGACAGCAACCACTGCCAAACAAAGAGAATACCCCACTCGACCTCCCGAAACCCAGAGGGTGAGAGAGAGAGGGGCCACCCCATGAAACCGTAACAACTTTTTGTTTTAAATCCAGTAAATTGGAATGACTCATCATCAGGACAGCAATTAGGGATTGGTCATATAGGTGGACAGGAAAAAGGAGGGGAGGCAGGGGAGGCAAGGCTCTTGCTGGGCATGTGGACATGATACCCAGGGCCCTGGCCACACTTGCATGGAGAGGAAGGGGTAGGACTGGGGCAGGGTGACAGTAGGTATGTCAGGGGTGGGTGGGGTGCTTTGTTAGGGCTGTCTGGCTTTCACTTCTTGTTTTTGAGCTGATTGGCCAGCCAGTCCAGGCCTTCGTACAGCCCGTCCCCGCTGGTGGCACAGGTGGCCTGAATGTACCAGTTACGGTGACGAAGGGAATGCAGGCCCAGCTTGTCTGTGATCTCAGCAGCGTTCATAGCATTAGGCAGATCCTGGAGCACGTGGGAGACACATAAAAAGAAGCCTCAGGATTTTTTAAAGGCTTCTAGAACACCCATCTACCAAAGAAATGTGTACCAGCACCTTCCCCTCCTCCTTTATTTTAGGAAACCCAGAACAAGATCCTAAGGAGCTACTTTGGATTTAGTCACCTAGAACTCAAGATCCAAAGCACTAGAGGTCACTGTACTGAAGAATTGGAAACCAAATACGAGGATGGTGGGGAAGCAAGAGACGTGATTCAGACTGACCAAAGAATCAGGTCTGTCTGACAGCAGGAGTGAGGCCAATTCTCCTAAAGTAGATAACAGGCAAGATGAAAGAAAGATTTGAGACAATTCCTGAGGACTGAAATGTTGCTAAATAAAGCTTGGGGTGGGGCACAAGAAGAGGGGCATAAAGAAGCCAAGTGCTCAGTTTCCCACGCTTCTAACATTGAGAGCATACTAAAAGGGTTAACCATATAATAGGCCCAAGAGCCAACAATTTCCACAGCCAGTTTGCTGTCTCCCAAATTCAGGGGTGGGAAGAAGTCTCACCTGTTTGTTTGCAAAGACAAGGAGTACAGCATCCCGGAGCTCGTCCTCCGCCAGCATTCTCATCAGCTCTTCCCGGGCCTCATTTACTCGCTCCCGATCATTGCTGTCGACCACAAATATCAACCCTAGGAAGGCAGAGCATGGGCTGCACTAAGATGACAGGTAACCCCCTCCCCCCAACCAAAAGACCACACCTGCCTGACACCCTCCAAATATTTGCTCCCTTTCCTCCCTTTCTTCTGCCCCCAGGAGCTGCAGCAGGGTAACAGTTGGCCACCCATTAACAAAGACAGCCACACTCTCTGCTCATACCCAACCAACCCACGCTAGGCCTGAGCATACCTTGGGTGTTCTGGAAGTAGTGTCTCCAGAGGGGTCGAATCTTGTCCTGGCCACCCACATCCCACACTGTAAAGCTGATGTTCTTATACTCCACTGTCTCCACATTGAACCCTTTGGAAAAAAAACAGGCAATGGCCACTTGGCCTCAAACACTAGCCCCGCAAACACCACCACAATGAGTTTGGTTCTGCTTTCCCCCAGTGGTGGCCATAACACCAACAATGGAACAAAAGCTAAGGCTTCCTCAGACCTGATAATCGTTAAGCTAGCAGCCTGAAGGCCAAAATGAAAACCTAAGAGAAGTCAAAGAGGATGAGGAAGTTGGTTGAGAGGTTCACAGTTGCCTGGGTAACGTGGGCCAACTTTCCTGACTTTTCCACTCAGTCTTTGGTGCTCCCTCCTACAAAATGACTCAGCCCTGCTCTGGTACTTTGGCTACCAGAGTCGGCCTCAGCTAAGATGTGGGGCCTGAGAGGCAGAGTGAAGAAAGGGAAGTAAGCTGGCATCCTGGAGCCCCAAAGGCAGAGCCAGCTGACAATGCTGACTGGAGCCCCCATCTACATAGCAAATGTAGGGAGACCTCCCTTCAGCAAACTGTAACCAAGATTGGCCACCAAAGATCTAAACCCAAGTAATTCCAAGCCTTTGGCAGGAACATCAAAGCCTTTTACCTGCTTTCCAAACAACACAGAGAAGAAACCAACTCCGTGCCTGAGGGCAGCTGTTGAGTGCCAGGCCATGGAAGTTCCCGCATCAGGGAGAGCCAGGTTAGGTGGGCAAACAGCAGCCTCAGCACCTGGTAGTAAGCTAAACAACACCACCCTCTTTTCTGAACCCCACAAATTGTATGGACTTGCCTGGGGAGAAGAGGCCAGGTTGGGGAACCAGGAATAGGTCCCTGCCCTGCCTCAGCTGCCGGCGTGAAAGCCCACATCCAAGCTGTGCTCTTACCAATGGTAGGGATGGTGGTGACGATCTCCCCGAGTTTCAGCTTGTATAGGATGGTGGTCTTTCCTGCGGCATCCAGGCCCACCATCAGGATGCGCATCTCCTTCTTCCCAATCAGGCTCTTGAGAAGGTTTCCAAAGATATTGCCCATGATCACAGCAGCTGCTTTCTGGGGACAGTGGGGCCCAAGTAGGGGCAGTGGCAGTCTGGTTTTGGCCTGGTCCCTGGTATGGAAGACTTGATCCTAGACAAAGGAAATGTAAAATCATACCATCATTTGCTTGTCAGGACTTCCAAGTAAATAGAATTTCCCAAGGTCATGGCTAGAGTTCATTCATGACAAACGGAGAGCCTGAGGGGACTATAAATACCAAGGCCCACTCAGATACATACTGAGTCTTTGGGAACAGAGACAAAGCAGTAAACACTAAGGATCCCTGCTCTGCCAGTAATCTAACCATGTGACTCTGGGCAAGTTACTTCACTTTTCCATATCTGCACCTGTAAATGGAAGGGGGATTGAACTAGATGATTTCTGAAGTCCCTTCAGTTCTGACATTCTACCCTATACCCAAAGGCATTGTAAGATCATTAATGCCCCTCCCTCCCCTAACCTTACTTACCCTGAGACTTCTGGCAAGGGTGGGAGAGGAGGGAGCGGAATAAGGAGTGGCTCTCTGTGACTCCTGACAAGGTTCAGGCTTGCCAGTTTCCCAAGGTTTATGCTTTCTCCTTTAATCAAGAGACTCTGCCTCTTCCCTTC
|
ATGGAGGGTGAAGGGACAGCAAGGATGGTCTGAGGGCCTGGAAACAATAGAAAATCTTCGTCCTTTAGCATATCCTGGACTAGAAAACAAGAGTTGGAGAAGAGGGGGGTTGATACTAAGGTCAGCTATGTCACCCCACTTCCCAGCTCCTCATTAGAATACCCAGTCAGCCCTGGTCAGGCCAGTAGGAGTACTAGGGTGAGAAAATTCTGACCAAGGACAGATGACCCATCCAACCCCTAAGATCAGAAGGGTGGTGGGGCACTGGAAGGCAGGAATGGGATTGGCCCATGCCTCACCTTCTCCTAATAACAAAAGAGAATGAAGATGGAAAACCTCAGGCCTTCGCCTCCCTTCCCCCAATGCCCTGGGTCCCTAACACACACCATGGACTTGCCATCCCCACCCCCCAGTCAAGCTCCAGAGGAACAGATCTGAAGATGGTGGGGAAGGATCAGTTGAACACTCTAAGCTGATAAGAGTGAGTGGGTTCCTCTCTCCTTCCCAACAGTAAGGCAGAGCAGAGTGGCATCTCCTTGGGAACAGTCATCTAGAGATAAATGCCATCCTCCAGCCCTAAGAAGGGTGGAGAGAAGAGTACAAGGAAAATGGTGGTGAAGAATCCATCATCTGTCCTATCATCCAGAAAAACCTACCTGCAGAGAGGAGGGTAACCAGTCAAAGACTGGGGCAGTCCGGCTTGACTAATGCCCTCCCACCTTCTTCCCTTAATCTCACCAACACGGAAGGGGCAGATGACAGGCTCCAGTGGGCAGTGTCCTGGCTGCAAGCCCTGAGCTTCACTCCACCCCCTCCCCGCTCCCCCCGGCCCCCACAAATATATCTCTCTATACATGTATATACAGGCGCACACATGCACGCAAACACAGAGAGGCCCGTGCAATTTCCATGTAAAACAGGGAGAGGGTGGCAAAGGAAAGGCAAACAGGGAGTAGAAGGGCTTGTGGGGACAGGGAAAGGACTCAGATGCCAAGAGGACAGCAACCACTGCCAAACAAAGAGAATACCCCACTCGACCTCCCGAAACCCAGAGGGTGAGAGAGAGAGGGGCCACCCCATGAAACCGTAACAACTTTTTGTTTTAAATCCAGTAAATTGGAATGACTCATCATCAGGACAGCAATTAGGGATTGGTCATATAGGTGGACAGGAAAAAGGAGGGGAGGCAGGGGAGGCAAGGCTCTTGCTGGGCATGTGGACATGATACCCAGGGCCCTGGCCACACTTGCATGGAGAGGAAGGGGTAGGACTGGGGCAGGGTGACAGTAGGTATGTCAGGGGTGGGTGGGGTGCTTTGTTAGGGCTGTCTGGCTTTCACTTCTTGTTTTTGAGCTGATTGGCCAGCCAGTCCAGGCCTTCGTACAGCCCGTCCCCGCTGGTGGCACAGGTGGCCTGAATGTACCAGTTACGGTGACGAAGGGAATGCAGGCCCAGCTTGTCTGTGATCTCAGCAGCGTTCATAGCATTAGGCAGATCCTGGAGCACGTGGGAGACACATAAAAAGAAGCCTCAGGATTTTTTAAAGGCTTCTAGAACACCCATCTACCAAAGAAATGTGTACCAGCACCTTCCCCTCCTCCTTTATTTTAGGAAACCCAGAACAAGATCCTAAGGAGCTACTTTGGATTTAGTCACCTAGAACTCAAGATCCAAAGCACTAGAGGTCACTGTACTGAAGAATTGGAAACCAAATACGAGGATGGTGGGGAAGCAAGAGACGTGATTCAGACTGACCAAAGAATCAGGTCTGTCTGACAGCAGGAGTGAGGCCAATTCTCCTAAAGTAGATAACAGGCAAGATGAAAGAAAGATTTGAGACAATTCCTGAGGACTGAAATGTTGCTAAATAAAGCTTGGGGTGGGGCACAAGAAGAGGGGCATAAAGAAGCCAAGTGCTCAGTTTCCCACGCTTCTAACATTGAGAGCATACTAAAAGGGTTAACCATATAATAGGCCCAAGAGCCAACAATTTCCACAGCCAGTTTGCTGTCTCCCAAATTCAGGGGTGGGAAGAAGTCTCACCTGTTCGTTTGCAAAGACAAGGAGTACAGCATCCCGGAGCTCGTCCTCCGCCAGCATTCTCATCAGCTCTTCCCGGGCCTCATTTACTCGCTCCCGATCATTGCTGTCGACCACAAATATCAACCCTAGGAAGGCAGAGCATGGGCTGCACTAAGATGACAGGTAACCCCCTCCCCCCAACCAAAAGACCACACCTGCCTGACACCCTCCAAATATTTGCTCCCTTTCCTCCCTTTCTTCTGCCCCCAGGAGCTGCAGCAGGGTAACAGTTGGCCACCCATTAACAAAGACAGCCACACTCTCTGCTCATACCCAACCAACCCACGCTAGGCCTGAGCATACCTTGGGTGTTCTGGAAGTAGTGTCTCCAGAGGGGTCGAATCTTGTCCTGGCCACCCACATCCCACACTGTAAAGCTGATGTTCTTATACTCCACTGTCTCCACATTGAACCCTTTGGAAAAAAAACAGGCAATGGCCACTTGGCCTCAAACACTAGCCCCGCAAACACCACCACAATGAGTTTGGTTCTGCTTTCCCCCAGTGGTGGCCATAACACCAACAATGGAACAAAAGCTAAGGCTTCCTCAGACCTGATAATCGTTAAGCTAGCAGCCTGAAGGCCAAAATGAAAACCTAAGAGAAGTCAAAGAGGATGAGGAAGTTGGTTGAGAGGTTCACAGTTGCCTGGGTAACGTGGGCCAACTTTCCTGACTTTTCCACTCAGTCTTTGGTGCTCCCTCCTACAAAATGACTCAGCCCTGCTCTGGTACTTTGGCTACCAGAGTCGGCCTCAGCTAAGATGTGGGGCCTGAGAGGCAGAGTGAAGAAAGGGAAGTAAGCTGGCATCCTGGAGCCCCAAAGGCAGAGCCAGCTGACAATGCTGACTGGAGCCCCCATCTACATAGCAAATGTAGGGAGACCTCCCTTCAGCAAACTGTAACCAAGATTGGCCACCAAAGATCTAAACCCAAGTAATTCCAAGCCTTTGGCAGGAACATCAAAGCCTTTTACCTGCTTTCCAAACAACACAGAGAAGAAACCAACTCCGTGCCTGAGGGCAGCTGTTGAGTGCCAGGCCATGGAAGTTCCCGCATCAGGGAGAGCCAGGTTAGGTGGGCAAACAGCAGCCTCAGCACCTGGTAGTAAGCTAAACAACACCACCCTCTTTTCTGAACCCCACAAATTGTATGGACTTGCCTGGGGAGAAGAGGCCAGGTTGGGGAACCAGGAATAGGTCCCTGCCCTGCCTCAGCTGCCGGCGTGAAAGCCCACATCCAAGCTGTGCTCTTACCAATGGTAGGGATGGTGGTGACGATCTCCCCGAGTTTCAGCTTGTATAGGATGGTGGTCTTTCCTGCGGCATCCAGGCCCACCATCAGGATGCGCATCTCCTTCTTCCCAATCAGGCTCTTGAGAAGGTTTCCAAAGATATTGCCCATGATCACAGCAGCTGCTTTCTGGGGACAGTGGGGCCCAAGTAGGGGCAGTGGCAGTCTGGTTTTGGCCTGGTCCCTGGTATGGAAGACTTGATCCTAGACAAAGGAAATGTAAAATCATACCATCATTTGCTTGTCAGGACTTCCAAGTAAATAGAATTTCCCAAGGTCATGGCTAGAGTTCATTCATGACAAACGGAGAGCCTGAGGGGACTATAAATACCAAGGCCCACTCAGATACATACTGAGTCTTTGGGAACAGAGACAAAGCAGTAAACACTAAGGATCCCTGCTCTGCCAGTAATCTAACCATGTGACTCTGGGCAAGTTACTTCACTTTTCCATATCTGCACCTGTAAATGGAAGGGGGATTGAACTAGATGATTTCTGAAGTCCCTTCAGTTCTGACATTCTACCCTATACCCAAAGGCATTGTAAGATCATTAATGCCCCTCCCTCCCCTAACCTTACTTACCCTGAGACTTCTGGCAAGGGTGGGAGAGGAGGGAGCGGAATAAGGAGTGGCTCTCTGTGACTCCTGACAAGGTTCAGGCTTGCCAGTTTCCCAAGGTTTATGCTTTCTCCTTTAATCAAGAGACTCTGCCTCTTCCCTTC
|
Task1_train_17535
|
Consider a variant on Chromosome 12 in gene ARF3 (ARF GTPase 3). Determine its clinical classification and disease relevance.
|
Pathogenic; Scoliosis
|
ATGGAGGGTGAAGGGACAGCAAGGATGGTCTGAGGGCCTGGAAACAATAGAAAATCTTCGTCCTTTAGCATATCCTGGACTAGAAAACAAGAGTTGGAGAAGAGGGGGGTTGATACTAAGGTCAGCTATGTCACCCCACTTCCCAGCTCCTCATTAGAATACCCAGTCAGCCCTGGTCAGGCCAGTAGGAGTACTAGGGTGAGAAAATTCTGACCAAGGACAGATGACCCATCCAACCCCTAAGATCAGAAGGGTGGTGGGGCACTGGAAGGCAGGAATGGGATTGGCCCATGCCTCACCTTCTCCTAATAACAAAAGAGAATGAAGATGGAAAACCTCAGGCCTTCGCCTCCCTTCCCCCAATGCCCTGGGTCCCTAACACACACCATGGACTTGCCATCCCCACCCCCCAGTCAAGCTCCAGAGGAACAGATCTGAAGATGGTGGGGAAGGATCAGTTGAACACTCTAAGCTGATAAGAGTGAGTGGGTTCCTCTCTCCTTCCCAACAGTAAGGCAGAGCAGAGTGGCATCTCCTTGGGAACAGTCATCTAGAGATAAATGCCATCCTCCAGCCCTAAGAAGGGTGGAGAGAAGAGTACAAGGAAAATGGTGGTGAAGAATCCATCATCTGTCCTATCATCCAGAAAAACCTACCTGCAGAGAGGAGGGTAACCAGTCAAAGACTGGGGCAGTCCGGCTTGACTAATGCCCTCCCACCTTCTTCCCTTAATCTCACCAACACGGAAGGGGCAGATGACAGGCTCCAGTGGGCAGTGTCCTGGCTGCAAGCCCTGAGCTTCACTCCACCCCCTCCCCGCTCCCCCCGGCCCCCACAAATATATCTCTCTATACATGTATATACAGGCGCACACATGCACGCAAACACAGAGAGGCCCGTGCAATTTCCATGTAAAACAGGGAGAGGGTGGCAAAGGAAAGGCAAACAGGGAGTAGAAGGGCTTGTGGGGACAGGGAAAGGACTCAGATGCCAAGAGGACAGCAACCACTGCCAAACAAAGAGAATACCCCACTCGACCTCCCGAAACCCAGAGGGTGAGAGAGAGAGGGGCCACCCCATGAAACCGTAACAACTTTTTGTTTTAAATCCAGTAAATTGGAATGACTCATCATCAGGACAGCAATTAGGGATTGGTCATATAGGTGGACAGGAAAAAGGAGGGGAGGCAGGGGAGGCAAGGCTCTTGCTGGGCATGTGGACATGATACCCAGGGCCCTGGCCACACTTGCATGGAGAGGAAGGGGTAGGACTGGGGCAGGGTGACAGTAGGTATGTCAGGGGTGGGTGGGGTGCTTTGTTAGGGCTGTCTGGCTTTCACTTCTTGTTTTTGAGCTGATTGGCCAGCCAGTCCAGGCCTTCGTACAGCCCGTCCCCGCTGGTGGCACAGGTGGCCTGAATGTACCAGTTACGGTGACGAAGGGAATGCAGGCCCAGCTTGTCTGTGATCTCAGCAGCGTTCATAGCATTAGGCAGATCCTGGAGCACGTGGGAGACACATAAAAAGAAGCCTCAGGATTTTTTAAAGGCTTCTAGAACACCCATCTACCAAAGAAATGTGTACCAGCACCTTCCCCTCCTCCTTTATTTTAGGAAACCCAGAACAAGATCCTAAGGAGCTACTTTGGATTTAGTCACCTAGAACTCAAGATCCAAAGCACTAGAGGTCACTGTACTGAAGAATTGGAAACCAAATACGAGGATGGTGGGGAAGCAAGAGACGTGATTCAGACTGACCAAAGAATCAGGTCTGTCTGACAGCAGGAGTGAGGCCAATTCTCCTAAAGTAGATAACAGGCAAGATGAAAGAAAGATTTGAGACAATTCCTGAGGACTGAAATGTTGCTAAATAAAGCTTGGGGTGGGGCACAAGAAGAGGGGCATAAAGAAGCCAAGTGCTCAGTTTCCCACGCTTCTAACATTGAGAGCATACTAAAAGGGTTAACCATATAATAGGCCCAAGAGCCAACAATTTCCACAGCCAGTTTGCTGTCTCCCAAATTCAGGGGTGGGAAGAAGTCTCACCTGTTTGTTTGCAAAGACAAGGAGTACAGCATCCCGGAGCTCGTCCTCCGCCAGCATTCTCATCAGCTCTTCCCGGGCCTCATTTACTCGCTCCCGATCATTGCTGTCGACCACAAATATCAACCCTAGGAAGGCAGAGCATGGGCTGCACTAAGATGACAGGTAACCCCCTCCCCCCAACCAAAAGACCACACCTGCCTGACACCCTCCAAATATTTGCTCCCTTTCCTCCCTTTCTTCTGCCCCCAGGAGCTGCAGCAGGGTAACAGTTGGCCACCCATTAACAAAGACAGCCACACTCTCTGCTCATACCCAACCAACCCACGCTAGGCCTGAGCATACCTTGGGTGTTCTGGAAGTAGTGTCTCCAGAGGGGTCGAATCTTGTCCTGGCCACCCACATCCCACACTGTAAAGCTGATGTTCTTATACTCCACTGTCTCCACATTGAACCCTTTGGAAAAAAAACAGGCAATGGCCACTTGGCCTCAAACACTAGCCCCGCAAACACCACCACAATGAGTTTGGTTCTGCTTTCCCCCAGTGGTGGCCATAACACCAACAATGGAACAAAAGCTAAGGCTTCCTCAGACCTGATAATCGTTAAGCTAGCAGCCTGAAGGCCAAAATGAAAACCTAAGAGAAGTCAAAGAGGATGAGGAAGTTGGTTGAGAGGTTCACAGTTGCCTGGGTAACGTGGGCCAACTTTCCTGACTTTTCCACTCAGTCTTTGGTGCTCCCTCCTACAAAATGACTCAGCCCTGCTCTGGTACTTTGGCTACCAGAGTCGGCCTCAGCTAAGATGTGGGGCCTGAGAGGCAGAGTGAAGAAAGGGAAGTAAGCTGGCATCCTGGAGCCCCAAAGGCAGAGCCAGCTGACAATGCTGACTGGAGCCCCCATCTACATAGCAAATGTAGGGAGACCTCCCTTCAGCAAACTGTAACCAAGATTGGCCACCAAAGATCTAAACCCAAGTAATTCCAAGCCTTTGGCAGGAACATCAAAGCCTTTTACCTGCTTTCCAAACAACACAGAGAAGAAACCAACTCCGTGCCTGAGGGCAGCTGTTGAGTGCCAGGCCATGGAAGTTCCCGCATCAGGGAGAGCCAGGTTAGGTGGGCAAACAGCAGCCTCAGCACCTGGTAGTAAGCTAAACAACACCACCCTCTTTTCTGAACCCCACAAATTGTATGGACTTGCCTGGGGAGAAGAGGCCAGGTTGGGGAACCAGGAATAGGTCCCTGCCCTGCCTCAGCTGCCGGCGTGAAAGCCCACATCCAAGCTGTGCTCTTACCAATGGTAGGGATGGTGGTGACGATCTCCCCGAGTTTCAGCTTGTATAGGATGGTGGTCTTTCCTGCGGCATCCAGGCCCACCATCAGGATGCGCATCTCCTTCTTCCCAATCAGGCTCTTGAGAAGGTTTCCAAAGATATTGCCCATGATCACAGCAGCTGCTTTCTGGGGACAGTGGGGCCCAAGTAGGGGCAGTGGCAGTCTGGTTTTGGCCTGGTCCCTGGTATGGAAGACTTGATCCTAGACAAAGGAAATGTAAAATCATACCATCATTTGCTTGTCAGGACTTCCAAGTAAATAGAATTTCCCAAGGTCATGGCTAGAGTTCATTCATGACAAACGGAGAGCCTGAGGGGACTATAAATACCAAGGCCCACTCAGATACATACTGAGTCTTTGGGAACAGAGACAAAGCAGTAAACACTAAGGATCCCTGCTCTGCCAGTAATCTAACCATGTGACTCTGGGCAAGTTACTTCACTTTTCCATATCTGCACCTGTAAATGGAAGGGGGATTGAACTAGATGATTTCTGAAGTCCCTTCAGTTCTGACATTCTACCCTATACCCAAAGGCATTGTAAGATCATTAATGCCCCTCCCTCCCCTAACCTTACTTACCCTGAGACTTCTGGCAAGGGTGGGAGAGGAGGGAGCGGAATAAGGAGTGGCTCTCTGTGACTCCTGACAAGGTTCAGGCTTGCCAGTTTCCCAAGGTTTATGCTTTCTCCTTTAATCAAGAGACTCTGCCTCTTCCCTTC
|
ATGGAGGGTGAAGGGACAGCAAGGATGGTCTGAGGGCCTGGAAACAATAGAAAATCTTCGTCCTTTAGCATATCCTGGACTAGAAAACAAGAGTTGGAGAAGAGGGGGGTTGATACTAAGGTCAGCTATGTCACCCCACTTCCCAGCTCCTCATTAGAATACCCAGTCAGCCCTGGTCAGGCCAGTAGGAGTACTAGGGTGAGAAAATTCTGACCAAGGACAGATGACCCATCCAACCCCTAAGATCAGAAGGGTGGTGGGGCACTGGAAGGCAGGAATGGGATTGGCCCATGCCTCACCTTCTCCTAATAACAAAAGAGAATGAAGATGGAAAACCTCAGGCCTTCGCCTCCCTTCCCCCAATGCCCTGGGTCCCTAACACACACCATGGACTTGCCATCCCCACCCCCCAGTCAAGCTCCAGAGGAACAGATCTGAAGATGGTGGGGAAGGATCAGTTGAACACTCTAAGCTGATAAGAGTGAGTGGGTTCCTCTCTCCTTCCCAACAGTAAGGCAGAGCAGAGTGGCATCTCCTTGGGAACAGTCATCTAGAGATAAATGCCATCCTCCAGCCCTAAGAAGGGTGGAGAGAAGAGTACAAGGAAAATGGTGGTGAAGAATCCATCATCTGTCCTATCATCCAGAAAAACCTACCTGCAGAGAGGAGGGTAACCAGTCAAAGACTGGGGCAGTCCGGCTTGACTAATGCCCTCCCACCTTCTTCCCTTAATCTCACCAACACGGAAGGGGCAGATGACAGGCTCCAGTGGGCAGTGTCCTGGCTGCAAGCCCTGAGCTTCACTCCACCCCCTCCCCGCTCCCCCCGGCCCCCACAAATATATCTCTCTATACATGTATATACAGGCGCACACATGCACGCAAACACAGAGAGGCCCGTGCAATTTCCATGTAAAACAGGGAGAGGGTGGCAAAGGAAAGGCAAACAGGGAGTAGAAGGGCTTGTGGGGACAGGGAAAGGACTCAGATGCCAAGAGGACAGCAACCACTGCCAAACAAAGAGAATACCCCACTCGACCTCCCGAAACCCAGAGGGTGAGAGAGAGAGGGGCCACCCCATGAAACCGTAACAACTTTTTGTTTTAAATCCAGTAAATTGGAATGACTCATCATCAGGACAGCAATTAGGGATTGGTCATATAGGTGGACAGGAAAAAGGAGGGGAGGCAGGGGAGGCAAGGCTCTTGCTGGGCATGTGGACATGATACCCAGGGCCCTGGCCACACTTGCATGGAGAGGAAGGGGTAGGACTGGGGCAGGGTGACAGTAGGTATGTCAGGGGTGGGTGGGGTGCTTTGTTAGGGCTGTCTGGCTTTCACTTCTTGTTTTTGAGCTGATTGGCCAGCCAGTCCAGGCCTTCGTACAGCCCGTCCCCGCTGGTGGCACAGGTGGCCTGAATGTACCAGTTACGGTGACGAAGGGAATGCAGGCCCAGCTTGTCTGTGATCTCAGCAGCGTTCATAGCATTAGGCAGATCCTGGAGCACGTGGGAGACACATAAAAAGAAGCCTCAGGATTTTTTAAAGGCTTCTAGAACACCCATCTACCAAAGAAATGTGTACCAGCACCTTCCCCTCCTCCTTTATTTTAGGAAACCCAGAACAAGATCCTAAGGAGCTACTTTGGATTTAGTCACCTAGAACTCAAGATCCAAAGCACTAGAGGTCACTGTACTGAAGAATTGGAAACCAAATACGAGGATGGTGGGGAAGCAAGAGACGTGATTCAGACTGACCAAAGAATCAGGTCTGTCTGACAGCAGGAGTGAGGCCAATTCTCCTAAAGTAGATAACAGGCAAGATGAAAGAAAGATTTGAGACAATTCCTGAGGACTGAAATGTTGCTAAATAAAGCTTGGGGTGGGGCACAAGAAGAGGGGCATAAAGAAGCCAAGTGCTCAGTTTCCCACGCTTCTAACATTGAGAGCATACTAAAAGGGTTAACCATATAATAGGCCCAAGAGCCAACAATTTCCACAGCCAGTTTGCTGTCTCCCAAATTCAGGGGTGGGAAGAAGTCTCACCTGTTCGTTTGCAAAGACAAGGAGTACAGCATCCCGGAGCTCGTCCTCCGCCAGCATTCTCATCAGCTCTTCCCGGGCCTCATTTACTCGCTCCCGATCATTGCTGTCGACCACAAATATCAACCCTAGGAAGGCAGAGCATGGGCTGCACTAAGATGACAGGTAACCCCCTCCCCCCAACCAAAAGACCACACCTGCCTGACACCCTCCAAATATTTGCTCCCTTTCCTCCCTTTCTTCTGCCCCCAGGAGCTGCAGCAGGGTAACAGTTGGCCACCCATTAACAAAGACAGCCACACTCTCTGCTCATACCCAACCAACCCACGCTAGGCCTGAGCATACCTTGGGTGTTCTGGAAGTAGTGTCTCCAGAGGGGTCGAATCTTGTCCTGGCCACCCACATCCCACACTGTAAAGCTGATGTTCTTATACTCCACTGTCTCCACATTGAACCCTTTGGAAAAAAAACAGGCAATGGCCACTTGGCCTCAAACACTAGCCCCGCAAACACCACCACAATGAGTTTGGTTCTGCTTTCCCCCAGTGGTGGCCATAACACCAACAATGGAACAAAAGCTAAGGCTTCCTCAGACCTGATAATCGTTAAGCTAGCAGCCTGAAGGCCAAAATGAAAACCTAAGAGAAGTCAAAGAGGATGAGGAAGTTGGTTGAGAGGTTCACAGTTGCCTGGGTAACGTGGGCCAACTTTCCTGACTTTTCCACTCAGTCTTTGGTGCTCCCTCCTACAAAATGACTCAGCCCTGCTCTGGTACTTTGGCTACCAGAGTCGGCCTCAGCTAAGATGTGGGGCCTGAGAGGCAGAGTGAAGAAAGGGAAGTAAGCTGGCATCCTGGAGCCCCAAAGGCAGAGCCAGCTGACAATGCTGACTGGAGCCCCCATCTACATAGCAAATGTAGGGAGACCTCCCTTCAGCAAACTGTAACCAAGATTGGCCACCAAAGATCTAAACCCAAGTAATTCCAAGCCTTTGGCAGGAACATCAAAGCCTTTTACCTGCTTTCCAAACAACACAGAGAAGAAACCAACTCCGTGCCTGAGGGCAGCTGTTGAGTGCCAGGCCATGGAAGTTCCCGCATCAGGGAGAGCCAGGTTAGGTGGGCAAACAGCAGCCTCAGCACCTGGTAGTAAGCTAAACAACACCACCCTCTTTTCTGAACCCCACAAATTGTATGGACTTGCCTGGGGAGAAGAGGCCAGGTTGGGGAACCAGGAATAGGTCCCTGCCCTGCCTCAGCTGCCGGCGTGAAAGCCCACATCCAAGCTGTGCTCTTACCAATGGTAGGGATGGTGGTGACGATCTCCCCGAGTTTCAGCTTGTATAGGATGGTGGTCTTTCCTGCGGCATCCAGGCCCACCATCAGGATGCGCATCTCCTTCTTCCCAATCAGGCTCTTGAGAAGGTTTCCAAAGATATTGCCCATGATCACAGCAGCTGCTTTCTGGGGACAGTGGGGCCCAAGTAGGGGCAGTGGCAGTCTGGTTTTGGCCTGGTCCCTGGTATGGAAGACTTGATCCTAGACAAAGGAAATGTAAAATCATACCATCATTTGCTTGTCAGGACTTCCAAGTAAATAGAATTTCCCAAGGTCATGGCTAGAGTTCATTCATGACAAACGGAGAGCCTGAGGGGACTATAAATACCAAGGCCCACTCAGATACATACTGAGTCTTTGGGAACAGAGACAAAGCAGTAAACACTAAGGATCCCTGCTCTGCCAGTAATCTAACCATGTGACTCTGGGCAAGTTACTTCACTTTTCCATATCTGCACCTGTAAATGGAAGGGGGATTGAACTAGATGATTTCTGAAGTCCCTTCAGTTCTGACATTCTACCCTATACCCAAAGGCATTGTAAGATCATTAATGCCCCTCCCTCCCCTAACCTTACTTACCCTGAGACTTCTGGCAAGGGTGGGAGAGGAGGGAGCGGAATAAGGAGTGGCTCTCTGTGACTCCTGACAAGGTTCAGGCTTGCCAGTTTCCCAAGGTTTATGCTTTCTCCTTTAATCAAGAGACTCTGCCTCTTCCCTTC
|
Task1_train_17536
|
This variant impacts the gene ARF3 (ARF GTPase 3) on Chromosome 12. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; Seizure
|
ATGGAGGGTGAAGGGACAGCAAGGATGGTCTGAGGGCCTGGAAACAATAGAAAATCTTCGTCCTTTAGCATATCCTGGACTAGAAAACAAGAGTTGGAGAAGAGGGGGGTTGATACTAAGGTCAGCTATGTCACCCCACTTCCCAGCTCCTCATTAGAATACCCAGTCAGCCCTGGTCAGGCCAGTAGGAGTACTAGGGTGAGAAAATTCTGACCAAGGACAGATGACCCATCCAACCCCTAAGATCAGAAGGGTGGTGGGGCACTGGAAGGCAGGAATGGGATTGGCCCATGCCTCACCTTCTCCTAATAACAAAAGAGAATGAAGATGGAAAACCTCAGGCCTTCGCCTCCCTTCCCCCAATGCCCTGGGTCCCTAACACACACCATGGACTTGCCATCCCCACCCCCCAGTCAAGCTCCAGAGGAACAGATCTGAAGATGGTGGGGAAGGATCAGTTGAACACTCTAAGCTGATAAGAGTGAGTGGGTTCCTCTCTCCTTCCCAACAGTAAGGCAGAGCAGAGTGGCATCTCCTTGGGAACAGTCATCTAGAGATAAATGCCATCCTCCAGCCCTAAGAAGGGTGGAGAGAAGAGTACAAGGAAAATGGTGGTGAAGAATCCATCATCTGTCCTATCATCCAGAAAAACCTACCTGCAGAGAGGAGGGTAACCAGTCAAAGACTGGGGCAGTCCGGCTTGACTAATGCCCTCCCACCTTCTTCCCTTAATCTCACCAACACGGAAGGGGCAGATGACAGGCTCCAGTGGGCAGTGTCCTGGCTGCAAGCCCTGAGCTTCACTCCACCCCCTCCCCGCTCCCCCCGGCCCCCACAAATATATCTCTCTATACATGTATATACAGGCGCACACATGCACGCAAACACAGAGAGGCCCGTGCAATTTCCATGTAAAACAGGGAGAGGGTGGCAAAGGAAAGGCAAACAGGGAGTAGAAGGGCTTGTGGGGACAGGGAAAGGACTCAGATGCCAAGAGGACAGCAACCACTGCCAAACAAAGAGAATACCCCACTCGACCTCCCGAAACCCAGAGGGTGAGAGAGAGAGGGGCCACCCCATGAAACCGTAACAACTTTTTGTTTTAAATCCAGTAAATTGGAATGACTCATCATCAGGACAGCAATTAGGGATTGGTCATATAGGTGGACAGGAAAAAGGAGGGGAGGCAGGGGAGGCAAGGCTCTTGCTGGGCATGTGGACATGATACCCAGGGCCCTGGCCACACTTGCATGGAGAGGAAGGGGTAGGACTGGGGCAGGGTGACAGTAGGTATGTCAGGGGTGGGTGGGGTGCTTTGTTAGGGCTGTCTGGCTTTCACTTCTTGTTTTTGAGCTGATTGGCCAGCCAGTCCAGGCCTTCGTACAGCCCGTCCCCGCTGGTGGCACAGGTGGCCTGAATGTACCAGTTACGGTGACGAAGGGAATGCAGGCCCAGCTTGTCTGTGATCTCAGCAGCGTTCATAGCATTAGGCAGATCCTGGAGCACGTGGGAGACACATAAAAAGAAGCCTCAGGATTTTTTAAAGGCTTCTAGAACACCCATCTACCAAAGAAATGTGTACCAGCACCTTCCCCTCCTCCTTTATTTTAGGAAACCCAGAACAAGATCCTAAGGAGCTACTTTGGATTTAGTCACCTAGAACTCAAGATCCAAAGCACTAGAGGTCACTGTACTGAAGAATTGGAAACCAAATACGAGGATGGTGGGGAAGCAAGAGACGTGATTCAGACTGACCAAAGAATCAGGTCTGTCTGACAGCAGGAGTGAGGCCAATTCTCCTAAAGTAGATAACAGGCAAGATGAAAGAAAGATTTGAGACAATTCCTGAGGACTGAAATGTTGCTAAATAAAGCTTGGGGTGGGGCACAAGAAGAGGGGCATAAAGAAGCCAAGTGCTCAGTTTCCCACGCTTCTAACATTGAGAGCATACTAAAAGGGTTAACCATATAATAGGCCCAAGAGCCAACAATTTCCACAGCCAGTTTGCTGTCTCCCAAATTCAGGGGTGGGAAGAAGTCTCACCTGTTTGTTTGCAAAGACAAGGAGTACAGCATCCCGGAGCTCGTCCTCCGCCAGCATTCTCATCAGCTCTTCCCGGGCCTCATTTACTCGCTCCCGATCATTGCTGTCGACCACAAATATCAACCCTAGGAAGGCAGAGCATGGGCTGCACTAAGATGACAGGTAACCCCCTCCCCCCAACCAAAAGACCACACCTGCCTGACACCCTCCAAATATTTGCTCCCTTTCCTCCCTTTCTTCTGCCCCCAGGAGCTGCAGCAGGGTAACAGTTGGCCACCCATTAACAAAGACAGCCACACTCTCTGCTCATACCCAACCAACCCACGCTAGGCCTGAGCATACCTTGGGTGTTCTGGAAGTAGTGTCTCCAGAGGGGTCGAATCTTGTCCTGGCCACCCACATCCCACACTGTAAAGCTGATGTTCTTATACTCCACTGTCTCCACATTGAACCCTTTGGAAAAAAAACAGGCAATGGCCACTTGGCCTCAAACACTAGCCCCGCAAACACCACCACAATGAGTTTGGTTCTGCTTTCCCCCAGTGGTGGCCATAACACCAACAATGGAACAAAAGCTAAGGCTTCCTCAGACCTGATAATCGTTAAGCTAGCAGCCTGAAGGCCAAAATGAAAACCTAAGAGAAGTCAAAGAGGATGAGGAAGTTGGTTGAGAGGTTCACAGTTGCCTGGGTAACGTGGGCCAACTTTCCTGACTTTTCCACTCAGTCTTTGGTGCTCCCTCCTACAAAATGACTCAGCCCTGCTCTGGTACTTTGGCTACCAGAGTCGGCCTCAGCTAAGATGTGGGGCCTGAGAGGCAGAGTGAAGAAAGGGAAGTAAGCTGGCATCCTGGAGCCCCAAAGGCAGAGCCAGCTGACAATGCTGACTGGAGCCCCCATCTACATAGCAAATGTAGGGAGACCTCCCTTCAGCAAACTGTAACCAAGATTGGCCACCAAAGATCTAAACCCAAGTAATTCCAAGCCTTTGGCAGGAACATCAAAGCCTTTTACCTGCTTTCCAAACAACACAGAGAAGAAACCAACTCCGTGCCTGAGGGCAGCTGTTGAGTGCCAGGCCATGGAAGTTCCCGCATCAGGGAGAGCCAGGTTAGGTGGGCAAACAGCAGCCTCAGCACCTGGTAGTAAGCTAAACAACACCACCCTCTTTTCTGAACCCCACAAATTGTATGGACTTGCCTGGGGAGAAGAGGCCAGGTTGGGGAACCAGGAATAGGTCCCTGCCCTGCCTCAGCTGCCGGCGTGAAAGCCCACATCCAAGCTGTGCTCTTACCAATGGTAGGGATGGTGGTGACGATCTCCCCGAGTTTCAGCTTGTATAGGATGGTGGTCTTTCCTGCGGCATCCAGGCCCACCATCAGGATGCGCATCTCCTTCTTCCCAATCAGGCTCTTGAGAAGGTTTCCAAAGATATTGCCCATGATCACAGCAGCTGCTTTCTGGGGACAGTGGGGCCCAAGTAGGGGCAGTGGCAGTCTGGTTTTGGCCTGGTCCCTGGTATGGAAGACTTGATCCTAGACAAAGGAAATGTAAAATCATACCATCATTTGCTTGTCAGGACTTCCAAGTAAATAGAATTTCCCAAGGTCATGGCTAGAGTTCATTCATGACAAACGGAGAGCCTGAGGGGACTATAAATACCAAGGCCCACTCAGATACATACTGAGTCTTTGGGAACAGAGACAAAGCAGTAAACACTAAGGATCCCTGCTCTGCCAGTAATCTAACCATGTGACTCTGGGCAAGTTACTTCACTTTTCCATATCTGCACCTGTAAATGGAAGGGGGATTGAACTAGATGATTTCTGAAGTCCCTTCAGTTCTGACATTCTACCCTATACCCAAAGGCATTGTAAGATCATTAATGCCCCTCCCTCCCCTAACCTTACTTACCCTGAGACTTCTGGCAAGGGTGGGAGAGGAGGGAGCGGAATAAGGAGTGGCTCTCTGTGACTCCTGACAAGGTTCAGGCTTGCCAGTTTCCCAAGGTTTATGCTTTCTCCTTTAATCAAGAGACTCTGCCTCTTCCCTTC
|
ATGGAGGGTGAAGGGACAGCAAGGATGGTCTGAGGGCCTGGAAACAATAGAAAATCTTCGTCCTTTAGCATATCCTGGACTAGAAAACAAGAGTTGGAGAAGAGGGGGGTTGATACTAAGGTCAGCTATGTCACCCCACTTCCCAGCTCCTCATTAGAATACCCAGTCAGCCCTGGTCAGGCCAGTAGGAGTACTAGGGTGAGAAAATTCTGACCAAGGACAGATGACCCATCCAACCCCTAAGATCAGAAGGGTGGTGGGGCACTGGAAGGCAGGAATGGGATTGGCCCATGCCTCACCTTCTCCTAATAACAAAAGAGAATGAAGATGGAAAACCTCAGGCCTTCGCCTCCCTTCCCCCAATGCCCTGGGTCCCTAACACACACCATGGACTTGCCATCCCCACCCCCCAGTCAAGCTCCAGAGGAACAGATCTGAAGATGGTGGGGAAGGATCAGTTGAACACTCTAAGCTGATAAGAGTGAGTGGGTTCCTCTCTCCTTCCCAACAGTAAGGCAGAGCAGAGTGGCATCTCCTTGGGAACAGTCATCTAGAGATAAATGCCATCCTCCAGCCCTAAGAAGGGTGGAGAGAAGAGTACAAGGAAAATGGTGGTGAAGAATCCATCATCTGTCCTATCATCCAGAAAAACCTACCTGCAGAGAGGAGGGTAACCAGTCAAAGACTGGGGCAGTCCGGCTTGACTAATGCCCTCCCACCTTCTTCCCTTAATCTCACCAACACGGAAGGGGCAGATGACAGGCTCCAGTGGGCAGTGTCCTGGCTGCAAGCCCTGAGCTTCACTCCACCCCCTCCCCGCTCCCCCCGGCCCCCACAAATATATCTCTCTATACATGTATATACAGGCGCACACATGCACGCAAACACAGAGAGGCCCGTGCAATTTCCATGTAAAACAGGGAGAGGGTGGCAAAGGAAAGGCAAACAGGGAGTAGAAGGGCTTGTGGGGACAGGGAAAGGACTCAGATGCCAAGAGGACAGCAACCACTGCCAAACAAAGAGAATACCCCACTCGACCTCCCGAAACCCAGAGGGTGAGAGAGAGAGGGGCCACCCCATGAAACCGTAACAACTTTTTGTTTTAAATCCAGTAAATTGGAATGACTCATCATCAGGACAGCAATTAGGGATTGGTCATATAGGTGGACAGGAAAAAGGAGGGGAGGCAGGGGAGGCAAGGCTCTTGCTGGGCATGTGGACATGATACCCAGGGCCCTGGCCACACTTGCATGGAGAGGAAGGGGTAGGACTGGGGCAGGGTGACAGTAGGTATGTCAGGGGTGGGTGGGGTGCTTTGTTAGGGCTGTCTGGCTTTCACTTCTTGTTTTTGAGCTGATTGGCCAGCCAGTCCAGGCCTTCGTACAGCCCGTCCCCGCTGGTGGCACAGGTGGCCTGAATGTACCAGTTACGGTGACGAAGGGAATGCAGGCCCAGCTTGTCTGTGATCTCAGCAGCGTTCATAGCATTAGGCAGATCCTGGAGCACGTGGGAGACACATAAAAAGAAGCCTCAGGATTTTTTAAAGGCTTCTAGAACACCCATCTACCAAAGAAATGTGTACCAGCACCTTCCCCTCCTCCTTTATTTTAGGAAACCCAGAACAAGATCCTAAGGAGCTACTTTGGATTTAGTCACCTAGAACTCAAGATCCAAAGCACTAGAGGTCACTGTACTGAAGAATTGGAAACCAAATACGAGGATGGTGGGGAAGCAAGAGACGTGATTCAGACTGACCAAAGAATCAGGTCTGTCTGACAGCAGGAGTGAGGCCAATTCTCCTAAAGTAGATAACAGGCAAGATGAAAGAAAGATTTGAGACAATTCCTGAGGACTGAAATGTTGCTAAATAAAGCTTGGGGTGGGGCACAAGAAGAGGGGCATAAAGAAGCCAAGTGCTCAGTTTCCCACGCTTCTAACATTGAGAGCATACTAAAAGGGTTAACCATATAATAGGCCCAAGAGCCAACAATTTCCACAGCCAGTTTGCTGTCTCCCAAATTCAGGGGTGGGAAGAAGTCTCACCTGTTCGTTTGCAAAGACAAGGAGTACAGCATCCCGGAGCTCGTCCTCCGCCAGCATTCTCATCAGCTCTTCCCGGGCCTCATTTACTCGCTCCCGATCATTGCTGTCGACCACAAATATCAACCCTAGGAAGGCAGAGCATGGGCTGCACTAAGATGACAGGTAACCCCCTCCCCCCAACCAAAAGACCACACCTGCCTGACACCCTCCAAATATTTGCTCCCTTTCCTCCCTTTCTTCTGCCCCCAGGAGCTGCAGCAGGGTAACAGTTGGCCACCCATTAACAAAGACAGCCACACTCTCTGCTCATACCCAACCAACCCACGCTAGGCCTGAGCATACCTTGGGTGTTCTGGAAGTAGTGTCTCCAGAGGGGTCGAATCTTGTCCTGGCCACCCACATCCCACACTGTAAAGCTGATGTTCTTATACTCCACTGTCTCCACATTGAACCCTTTGGAAAAAAAACAGGCAATGGCCACTTGGCCTCAAACACTAGCCCCGCAAACACCACCACAATGAGTTTGGTTCTGCTTTCCCCCAGTGGTGGCCATAACACCAACAATGGAACAAAAGCTAAGGCTTCCTCAGACCTGATAATCGTTAAGCTAGCAGCCTGAAGGCCAAAATGAAAACCTAAGAGAAGTCAAAGAGGATGAGGAAGTTGGTTGAGAGGTTCACAGTTGCCTGGGTAACGTGGGCCAACTTTCCTGACTTTTCCACTCAGTCTTTGGTGCTCCCTCCTACAAAATGACTCAGCCCTGCTCTGGTACTTTGGCTACCAGAGTCGGCCTCAGCTAAGATGTGGGGCCTGAGAGGCAGAGTGAAGAAAGGGAAGTAAGCTGGCATCCTGGAGCCCCAAAGGCAGAGCCAGCTGACAATGCTGACTGGAGCCCCCATCTACATAGCAAATGTAGGGAGACCTCCCTTCAGCAAACTGTAACCAAGATTGGCCACCAAAGATCTAAACCCAAGTAATTCCAAGCCTTTGGCAGGAACATCAAAGCCTTTTACCTGCTTTCCAAACAACACAGAGAAGAAACCAACTCCGTGCCTGAGGGCAGCTGTTGAGTGCCAGGCCATGGAAGTTCCCGCATCAGGGAGAGCCAGGTTAGGTGGGCAAACAGCAGCCTCAGCACCTGGTAGTAAGCTAAACAACACCACCCTCTTTTCTGAACCCCACAAATTGTATGGACTTGCCTGGGGAGAAGAGGCCAGGTTGGGGAACCAGGAATAGGTCCCTGCCCTGCCTCAGCTGCCGGCGTGAAAGCCCACATCCAAGCTGTGCTCTTACCAATGGTAGGGATGGTGGTGACGATCTCCCCGAGTTTCAGCTTGTATAGGATGGTGGTCTTTCCTGCGGCATCCAGGCCCACCATCAGGATGCGCATCTCCTTCTTCCCAATCAGGCTCTTGAGAAGGTTTCCAAAGATATTGCCCATGATCACAGCAGCTGCTTTCTGGGGACAGTGGGGCCCAAGTAGGGGCAGTGGCAGTCTGGTTTTGGCCTGGTCCCTGGTATGGAAGACTTGATCCTAGACAAAGGAAATGTAAAATCATACCATCATTTGCTTGTCAGGACTTCCAAGTAAATAGAATTTCCCAAGGTCATGGCTAGAGTTCATTCATGACAAACGGAGAGCCTGAGGGGACTATAAATACCAAGGCCCACTCAGATACATACTGAGTCTTTGGGAACAGAGACAAAGCAGTAAACACTAAGGATCCCTGCTCTGCCAGTAATCTAACCATGTGACTCTGGGCAAGTTACTTCACTTTTCCATATCTGCACCTGTAAATGGAAGGGGGATTGAACTAGATGATTTCTGAAGTCCCTTCAGTTCTGACATTCTACCCTATACCCAAAGGCATTGTAAGATCATTAATGCCCCTCCCTCCCCTAACCTTACTTACCCTGAGACTTCTGGCAAGGGTGGGAGAGGAGGGAGCGGAATAAGGAGTGGCTCTCTGTGACTCCTGACAAGGTTCAGGCTTGCCAGTTTCCCAAGGTTTATGCTTTCTCCTTTAATCAAGAGACTCTGCCTCTTCCCTTC
|
Task1_train_17537
|
Chromosome 12 houses a mutation in gene ARF3 (ARF GTPase 3). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
|
Pathogenic; Microcephaly
|
ATGGAGGGTGAAGGGACAGCAAGGATGGTCTGAGGGCCTGGAAACAATAGAAAATCTTCGTCCTTTAGCATATCCTGGACTAGAAAACAAGAGTTGGAGAAGAGGGGGGTTGATACTAAGGTCAGCTATGTCACCCCACTTCCCAGCTCCTCATTAGAATACCCAGTCAGCCCTGGTCAGGCCAGTAGGAGTACTAGGGTGAGAAAATTCTGACCAAGGACAGATGACCCATCCAACCCCTAAGATCAGAAGGGTGGTGGGGCACTGGAAGGCAGGAATGGGATTGGCCCATGCCTCACCTTCTCCTAATAACAAAAGAGAATGAAGATGGAAAACCTCAGGCCTTCGCCTCCCTTCCCCCAATGCCCTGGGTCCCTAACACACACCATGGACTTGCCATCCCCACCCCCCAGTCAAGCTCCAGAGGAACAGATCTGAAGATGGTGGGGAAGGATCAGTTGAACACTCTAAGCTGATAAGAGTGAGTGGGTTCCTCTCTCCTTCCCAACAGTAAGGCAGAGCAGAGTGGCATCTCCTTGGGAACAGTCATCTAGAGATAAATGCCATCCTCCAGCCCTAAGAAGGGTGGAGAGAAGAGTACAAGGAAAATGGTGGTGAAGAATCCATCATCTGTCCTATCATCCAGAAAAACCTACCTGCAGAGAGGAGGGTAACCAGTCAAAGACTGGGGCAGTCCGGCTTGACTAATGCCCTCCCACCTTCTTCCCTTAATCTCACCAACACGGAAGGGGCAGATGACAGGCTCCAGTGGGCAGTGTCCTGGCTGCAAGCCCTGAGCTTCACTCCACCCCCTCCCCGCTCCCCCCGGCCCCCACAAATATATCTCTCTATACATGTATATACAGGCGCACACATGCACGCAAACACAGAGAGGCCCGTGCAATTTCCATGTAAAACAGGGAGAGGGTGGCAAAGGAAAGGCAAACAGGGAGTAGAAGGGCTTGTGGGGACAGGGAAAGGACTCAGATGCCAAGAGGACAGCAACCACTGCCAAACAAAGAGAATACCCCACTCGACCTCCCGAAACCCAGAGGGTGAGAGAGAGAGGGGCCACCCCATGAAACCGTAACAACTTTTTGTTTTAAATCCAGTAAATTGGAATGACTCATCATCAGGACAGCAATTAGGGATTGGTCATATAGGTGGACAGGAAAAAGGAGGGGAGGCAGGGGAGGCAAGGCTCTTGCTGGGCATGTGGACATGATACCCAGGGCCCTGGCCACACTTGCATGGAGAGGAAGGGGTAGGACTGGGGCAGGGTGACAGTAGGTATGTCAGGGGTGGGTGGGGTGCTTTGTTAGGGCTGTCTGGCTTTCACTTCTTGTTTTTGAGCTGATTGGCCAGCCAGTCCAGGCCTTCGTACAGCCCGTCCCCGCTGGTGGCACAGGTGGCCTGAATGTACCAGTTACGGTGACGAAGGGAATGCAGGCCCAGCTTGTCTGTGATCTCAGCAGCGTTCATAGCATTAGGCAGATCCTGGAGCACGTGGGAGACACATAAAAAGAAGCCTCAGGATTTTTTAAAGGCTTCTAGAACACCCATCTACCAAAGAAATGTGTACCAGCACCTTCCCCTCCTCCTTTATTTTAGGAAACCCAGAACAAGATCCTAAGGAGCTACTTTGGATTTAGTCACCTAGAACTCAAGATCCAAAGCACTAGAGGTCACTGTACTGAAGAATTGGAAACCAAATACGAGGATGGTGGGGAAGCAAGAGACGTGATTCAGACTGACCAAAGAATCAGGTCTGTCTGACAGCAGGAGTGAGGCCAATTCTCCTAAAGTAGATAACAGGCAAGATGAAAGAAAGATTTGAGACAATTCCTGAGGACTGAAATGTTGCTAAATAAAGCTTGGGGTGGGGCACAAGAAGAGGGGCATAAAGAAGCCAAGTGCTCAGTTTCCCACGCTTCTAACATTGAGAGCATACTAAAAGGGTTAACCATATAATAGGCCCAAGAGCCAACAATTTCCACAGCCAGTTTGCTGTCTCCCAAATTCAGGGGTGGGAAGAAGTCTCACCTGTTTGTTTGCAAAGACAAGGAGTACAGCATCCCGGAGCTCGTCCTCCGCCAGCATTCTCATCAGCTCTTCCCGGGCCTCATTTACTCGCTCCCGATCATTGCTGTCGACCACAAATATCAACCCTAGGAAGGCAGAGCATGGGCTGCACTAAGATGACAGGTAACCCCCTCCCCCCAACCAAAAGACCACACCTGCCTGACACCCTCCAAATATTTGCTCCCTTTCCTCCCTTTCTTCTGCCCCCAGGAGCTGCAGCAGGGTAACAGTTGGCCACCCATTAACAAAGACAGCCACACTCTCTGCTCATACCCAACCAACCCACGCTAGGCCTGAGCATACCTTGGGTGTTCTGGAAGTAGTGTCTCCAGAGGGGTCGAATCTTGTCCTGGCCACCCACATCCCACACTGTAAAGCTGATGTTCTTATACTCCACTGTCTCCACATTGAACCCTTTGGAAAAAAAACAGGCAATGGCCACTTGGCCTCAAACACTAGCCCCGCAAACACCACCACAATGAGTTTGGTTCTGCTTTCCCCCAGTGGTGGCCATAACACCAACAATGGAACAAAAGCTAAGGCTTCCTCAGACCTGATAATCGTTAAGCTAGCAGCCTGAAGGCCAAAATGAAAACCTAAGAGAAGTCAAAGAGGATGAGGAAGTTGGTTGAGAGGTTCACAGTTGCCTGGGTAACGTGGGCCAACTTTCCTGACTTTTCCACTCAGTCTTTGGTGCTCCCTCCTACAAAATGACTCAGCCCTGCTCTGGTACTTTGGCTACCAGAGTCGGCCTCAGCTAAGATGTGGGGCCTGAGAGGCAGAGTGAAGAAAGGGAAGTAAGCTGGCATCCTGGAGCCCCAAAGGCAGAGCCAGCTGACAATGCTGACTGGAGCCCCCATCTACATAGCAAATGTAGGGAGACCTCCCTTCAGCAAACTGTAACCAAGATTGGCCACCAAAGATCTAAACCCAAGTAATTCCAAGCCTTTGGCAGGAACATCAAAGCCTTTTACCTGCTTTCCAAACAACACAGAGAAGAAACCAACTCCGTGCCTGAGGGCAGCTGTTGAGTGCCAGGCCATGGAAGTTCCCGCATCAGGGAGAGCCAGGTTAGGTGGGCAAACAGCAGCCTCAGCACCTGGTAGTAAGCTAAACAACACCACCCTCTTTTCTGAACCCCACAAATTGTATGGACTTGCCTGGGGAGAAGAGGCCAGGTTGGGGAACCAGGAATAGGTCCCTGCCCTGCCTCAGCTGCCGGCGTGAAAGCCCACATCCAAGCTGTGCTCTTACCAATGGTAGGGATGGTGGTGACGATCTCCCCGAGTTTCAGCTTGTATAGGATGGTGGTCTTTCCTGCGGCATCCAGGCCCACCATCAGGATGCGCATCTCCTTCTTCCCAATCAGGCTCTTGAGAAGGTTTCCAAAGATATTGCCCATGATCACAGCAGCTGCTTTCTGGGGACAGTGGGGCCCAAGTAGGGGCAGTGGCAGTCTGGTTTTGGCCTGGTCCCTGGTATGGAAGACTTGATCCTAGACAAAGGAAATGTAAAATCATACCATCATTTGCTTGTCAGGACTTCCAAGTAAATAGAATTTCCCAAGGTCATGGCTAGAGTTCATTCATGACAAACGGAGAGCCTGAGGGGACTATAAATACCAAGGCCCACTCAGATACATACTGAGTCTTTGGGAACAGAGACAAAGCAGTAAACACTAAGGATCCCTGCTCTGCCAGTAATCTAACCATGTGACTCTGGGCAAGTTACTTCACTTTTCCATATCTGCACCTGTAAATGGAAGGGGGATTGAACTAGATGATTTCTGAAGTCCCTTCAGTTCTGACATTCTACCCTATACCCAAAGGCATTGTAAGATCATTAATGCCCCTCCCTCCCCTAACCTTACTTACCCTGAGACTTCTGGCAAGGGTGGGAGAGGAGGGAGCGGAATAAGGAGTGGCTCTCTGTGACTCCTGACAAGGTTCAGGCTTGCCAGTTTCCCAAGGTTTATGCTTTCTCCTTTAATCAAGAGACTCTGCCTCTTCCCTTC
|
ATGGAGGGTGAAGGGACAGCAAGGATGGTCTGAGGGCCTGGAAACAATAGAAAATCTTCGTCCTTTAGCATATCCTGGACTAGAAAACAAGAGTTGGAGAAGAGGGGGGTTGATACTAAGGTCAGCTATGTCACCCCACTTCCCAGCTCCTCATTAGAATACCCAGTCAGCCCTGGTCAGGCCAGTAGGAGTACTAGGGTGAGAAAATTCTGACCAAGGACAGATGACCCATCCAACCCCTAAGATCAGAAGGGTGGTGGGGCACTGGAAGGCAGGAATGGGATTGGCCCATGCCTCACCTTCTCCTAATAACAAAAGAGAATGAAGATGGAAAACCTCAGGCCTTCGCCTCCCTTCCCCCAATGCCCTGGGTCCCTAACACACACCATGGACTTGCCATCCCCACCCCCCAGTCAAGCTCCAGAGGAACAGATCTGAAGATGGTGGGGAAGGATCAGTTGAACACTCTAAGCTGATAAGAGTGAGTGGGTTCCTCTCTCCTTCCCAACAGTAAGGCAGAGCAGAGTGGCATCTCCTTGGGAACAGTCATCTAGAGATAAATGCCATCCTCCAGCCCTAAGAAGGGTGGAGAGAAGAGTACAAGGAAAATGGTGGTGAAGAATCCATCATCTGTCCTATCATCCAGAAAAACCTACCTGCAGAGAGGAGGGTAACCAGTCAAAGACTGGGGCAGTCCGGCTTGACTAATGCCCTCCCACCTTCTTCCCTTAATCTCACCAACACGGAAGGGGCAGATGACAGGCTCCAGTGGGCAGTGTCCTGGCTGCAAGCCCTGAGCTTCACTCCACCCCCTCCCCGCTCCCCCCGGCCCCCACAAATATATCTCTCTATACATGTATATACAGGCGCACACATGCACGCAAACACAGAGAGGCCCGTGCAATTTCCATGTAAAACAGGGAGAGGGTGGCAAAGGAAAGGCAAACAGGGAGTAGAAGGGCTTGTGGGGACAGGGAAAGGACTCAGATGCCAAGAGGACAGCAACCACTGCCAAACAAAGAGAATACCCCACTCGACCTCCCGAAACCCAGAGGGTGAGAGAGAGAGGGGCCACCCCATGAAACCGTAACAACTTTTTGTTTTAAATCCAGTAAATTGGAATGACTCATCATCAGGACAGCAATTAGGGATTGGTCATATAGGTGGACAGGAAAAAGGAGGGGAGGCAGGGGAGGCAAGGCTCTTGCTGGGCATGTGGACATGATACCCAGGGCCCTGGCCACACTTGCATGGAGAGGAAGGGGTAGGACTGGGGCAGGGTGACAGTAGGTATGTCAGGGGTGGGTGGGGTGCTTTGTTAGGGCTGTCTGGCTTTCACTTCTTGTTTTTGAGCTGATTGGCCAGCCAGTCCAGGCCTTCGTACAGCCCGTCCCCGCTGGTGGCACAGGTGGCCTGAATGTACCAGTTACGGTGACGAAGGGAATGCAGGCCCAGCTTGTCTGTGATCTCAGCAGCGTTCATAGCATTAGGCAGATCCTGGAGCACGTGGGAGACACATAAAAAGAAGCCTCAGGATTTTTTAAAGGCTTCTAGAACACCCATCTACCAAAGAAATGTGTACCAGCACCTTCCCCTCCTCCTTTATTTTAGGAAACCCAGAACAAGATCCTAAGGAGCTACTTTGGATTTAGTCACCTAGAACTCAAGATCCAAAGCACTAGAGGTCACTGTACTGAAGAATTGGAAACCAAATACGAGGATGGTGGGGAAGCAAGAGACGTGATTCAGACTGACCAAAGAATCAGGTCTGTCTGACAGCAGGAGTGAGGCCAATTCTCCTAAAGTAGATAACAGGCAAGATGAAAGAAAGATTTGAGACAATTCCTGAGGACTGAAATGTTGCTAAATAAAGCTTGGGGTGGGGCACAAGAAGAGGGGCATAAAGAAGCCAAGTGCTCAGTTTCCCACGCTTCTAACATTGAGAGCATACTAAAAGGGTTAACCATATAATAGGCCCAAGAGCCAACAATTTCCACAGCCAGTTTGCTGTCTCCCAAATTCAGGGGTGGGAAGAAGTCTCACCTGTTCGTTTGCAAAGACAAGGAGTACAGCATCCCGGAGCTCGTCCTCCGCCAGCATTCTCATCAGCTCTTCCCGGGCCTCATTTACTCGCTCCCGATCATTGCTGTCGACCACAAATATCAACCCTAGGAAGGCAGAGCATGGGCTGCACTAAGATGACAGGTAACCCCCTCCCCCCAACCAAAAGACCACACCTGCCTGACACCCTCCAAATATTTGCTCCCTTTCCTCCCTTTCTTCTGCCCCCAGGAGCTGCAGCAGGGTAACAGTTGGCCACCCATTAACAAAGACAGCCACACTCTCTGCTCATACCCAACCAACCCACGCTAGGCCTGAGCATACCTTGGGTGTTCTGGAAGTAGTGTCTCCAGAGGGGTCGAATCTTGTCCTGGCCACCCACATCCCACACTGTAAAGCTGATGTTCTTATACTCCACTGTCTCCACATTGAACCCTTTGGAAAAAAAACAGGCAATGGCCACTTGGCCTCAAACACTAGCCCCGCAAACACCACCACAATGAGTTTGGTTCTGCTTTCCCCCAGTGGTGGCCATAACACCAACAATGGAACAAAAGCTAAGGCTTCCTCAGACCTGATAATCGTTAAGCTAGCAGCCTGAAGGCCAAAATGAAAACCTAAGAGAAGTCAAAGAGGATGAGGAAGTTGGTTGAGAGGTTCACAGTTGCCTGGGTAACGTGGGCCAACTTTCCTGACTTTTCCACTCAGTCTTTGGTGCTCCCTCCTACAAAATGACTCAGCCCTGCTCTGGTACTTTGGCTACCAGAGTCGGCCTCAGCTAAGATGTGGGGCCTGAGAGGCAGAGTGAAGAAAGGGAAGTAAGCTGGCATCCTGGAGCCCCAAAGGCAGAGCCAGCTGACAATGCTGACTGGAGCCCCCATCTACATAGCAAATGTAGGGAGACCTCCCTTCAGCAAACTGTAACCAAGATTGGCCACCAAAGATCTAAACCCAAGTAATTCCAAGCCTTTGGCAGGAACATCAAAGCCTTTTACCTGCTTTCCAAACAACACAGAGAAGAAACCAACTCCGTGCCTGAGGGCAGCTGTTGAGTGCCAGGCCATGGAAGTTCCCGCATCAGGGAGAGCCAGGTTAGGTGGGCAAACAGCAGCCTCAGCACCTGGTAGTAAGCTAAACAACACCACCCTCTTTTCTGAACCCCACAAATTGTATGGACTTGCCTGGGGAGAAGAGGCCAGGTTGGGGAACCAGGAATAGGTCCCTGCCCTGCCTCAGCTGCCGGCGTGAAAGCCCACATCCAAGCTGTGCTCTTACCAATGGTAGGGATGGTGGTGACGATCTCCCCGAGTTTCAGCTTGTATAGGATGGTGGTCTTTCCTGCGGCATCCAGGCCCACCATCAGGATGCGCATCTCCTTCTTCCCAATCAGGCTCTTGAGAAGGTTTCCAAAGATATTGCCCATGATCACAGCAGCTGCTTTCTGGGGACAGTGGGGCCCAAGTAGGGGCAGTGGCAGTCTGGTTTTGGCCTGGTCCCTGGTATGGAAGACTTGATCCTAGACAAAGGAAATGTAAAATCATACCATCATTTGCTTGTCAGGACTTCCAAGTAAATAGAATTTCCCAAGGTCATGGCTAGAGTTCATTCATGACAAACGGAGAGCCTGAGGGGACTATAAATACCAAGGCCCACTCAGATACATACTGAGTCTTTGGGAACAGAGACAAAGCAGTAAACACTAAGGATCCCTGCTCTGCCAGTAATCTAACCATGTGACTCTGGGCAAGTTACTTCACTTTTCCATATCTGCACCTGTAAATGGAAGGGGGATTGAACTAGATGATTTCTGAAGTCCCTTCAGTTCTGACATTCTACCCTATACCCAAAGGCATTGTAAGATCATTAATGCCCCTCCCTCCCCTAACCTTACTTACCCTGAGACTTCTGGCAAGGGTGGGAGAGGAGGGAGCGGAATAAGGAGTGGCTCTCTGTGACTCCTGACAAGGTTCAGGCTTGCCAGTTTCCCAAGGTTTATGCTTTCTCCTTTAATCAAGAGACTCTGCCTCTTCCCTTC
|
Task1_train_17538
|
A sequence alteration has been identified in ARF3 (ARF GTPase 3) on Chromosome 12. Is it disease-inducing or harmless?
|
Pathogenic; Intellectual disability
|
ATGGAGGGTGAAGGGACAGCAAGGATGGTCTGAGGGCCTGGAAACAATAGAAAATCTTCGTCCTTTAGCATATCCTGGACTAGAAAACAAGAGTTGGAGAAGAGGGGGGTTGATACTAAGGTCAGCTATGTCACCCCACTTCCCAGCTCCTCATTAGAATACCCAGTCAGCCCTGGTCAGGCCAGTAGGAGTACTAGGGTGAGAAAATTCTGACCAAGGACAGATGACCCATCCAACCCCTAAGATCAGAAGGGTGGTGGGGCACTGGAAGGCAGGAATGGGATTGGCCCATGCCTCACCTTCTCCTAATAACAAAAGAGAATGAAGATGGAAAACCTCAGGCCTTCGCCTCCCTTCCCCCAATGCCCTGGGTCCCTAACACACACCATGGACTTGCCATCCCCACCCCCCAGTCAAGCTCCAGAGGAACAGATCTGAAGATGGTGGGGAAGGATCAGTTGAACACTCTAAGCTGATAAGAGTGAGTGGGTTCCTCTCTCCTTCCCAACAGTAAGGCAGAGCAGAGTGGCATCTCCTTGGGAACAGTCATCTAGAGATAAATGCCATCCTCCAGCCCTAAGAAGGGTGGAGAGAAGAGTACAAGGAAAATGGTGGTGAAGAATCCATCATCTGTCCTATCATCCAGAAAAACCTACCTGCAGAGAGGAGGGTAACCAGTCAAAGACTGGGGCAGTCCGGCTTGACTAATGCCCTCCCACCTTCTTCCCTTAATCTCACCAACACGGAAGGGGCAGATGACAGGCTCCAGTGGGCAGTGTCCTGGCTGCAAGCCCTGAGCTTCACTCCACCCCCTCCCCGCTCCCCCCGGCCCCCACAAATATATCTCTCTATACATGTATATACAGGCGCACACATGCACGCAAACACAGAGAGGCCCGTGCAATTTCCATGTAAAACAGGGAGAGGGTGGCAAAGGAAAGGCAAACAGGGAGTAGAAGGGCTTGTGGGGACAGGGAAAGGACTCAGATGCCAAGAGGACAGCAACCACTGCCAAACAAAGAGAATACCCCACTCGACCTCCCGAAACCCAGAGGGTGAGAGAGAGAGGGGCCACCCCATGAAACCGTAACAACTTTTTGTTTTAAATCCAGTAAATTGGAATGACTCATCATCAGGACAGCAATTAGGGATTGGTCATATAGGTGGACAGGAAAAAGGAGGGGAGGCAGGGGAGGCAAGGCTCTTGCTGGGCATGTGGACATGATACCCAGGGCCCTGGCCACACTTGCATGGAGAGGAAGGGGTAGGACTGGGGCAGGGTGACAGTAGGTATGTCAGGGGTGGGTGGGGTGCTTTGTTAGGGCTGTCTGGCTTTCACTTCTTGTTTTTGAGCTGATTGGCCAGCCAGTCCAGGCCTTCGTACAGCCCGTCCCCGCTGGTGGCACAGGTGGCCTGAATGTACCAGTTACGGTGACGAAGGGAATGCAGGCCCAGCTTGTCTGTGATCTCAGCAGCGTTCATAGCATTAGGCAGATCCTGGAGCACGTGGGAGACACATAAAAAGAAGCCTCAGGATTTTTTAAAGGCTTCTAGAACACCCATCTACCAAAGAAATGTGTACCAGCACCTTCCCCTCCTCCTTTATTTTAGGAAACCCAGAACAAGATCCTAAGGAGCTACTTTGGATTTAGTCACCTAGAACTCAAGATCCAAAGCACTAGAGGTCACTGTACTGAAGAATTGGAAACCAAATACGAGGATGGTGGGGAAGCAAGAGACGTGATTCAGACTGACCAAAGAATCAGGTCTGTCTGACAGCAGGAGTGAGGCCAATTCTCCTAAAGTAGATAACAGGCAAGATGAAAGAAAGATTTGAGACAATTCCTGAGGACTGAAATGTTGCTAAATAAAGCTTGGGGTGGGGCACAAGAAGAGGGGCATAAAGAAGCCAAGTGCTCAGTTTCCCACGCTTCTAACATTGAGAGCATACTAAAAGGGTTAACCATATAATAGGCCCAAGAGCCAACAATTTCCACAGCCAGTTTGCTGTCTCCCAAATTCAGGGGTGGGAAGAAGTCTCACCTGTTTGTTTGCAAAGACAAGGAGTACAGCATCCCGGAGCTCGTCCTCCGCCAGCATTCTCATCAGCTCTTCCCGGGCCTCATTTACTCGCTCCCGATCATTGCTGTCGACCACAAATATCAACCCTAGGAAGGCAGAGCATGGGCTGCACTAAGATGACAGGTAACCCCCTCCCCCCAACCAAAAGACCACACCTGCCTGACACCCTCCAAATATTTGCTCCCTTTCCTCCCTTTCTTCTGCCCCCAGGAGCTGCAGCAGGGTAACAGTTGGCCACCCATTAACAAAGACAGCCACACTCTCTGCTCATACCCAACCAACCCACGCTAGGCCTGAGCATACCTTGGGTGTTCTGGAAGTAGTGTCTCCAGAGGGGTCGAATCTTGTCCTGGCCACCCACATCCCACACTGTAAAGCTGATGTTCTTATACTCCACTGTCTCCACATTGAACCCTTTGGAAAAAAAACAGGCAATGGCCACTTGGCCTCAAACACTAGCCCCGCAAACACCACCACAATGAGTTTGGTTCTGCTTTCCCCCAGTGGTGGCCATAACACCAACAATGGAACAAAAGCTAAGGCTTCCTCAGACCTGATAATCGTTAAGCTAGCAGCCTGAAGGCCAAAATGAAAACCTAAGAGAAGTCAAAGAGGATGAGGAAGTTGGTTGAGAGGTTCACAGTTGCCTGGGTAACGTGGGCCAACTTTCCTGACTTTTCCACTCAGTCTTTGGTGCTCCCTCCTACAAAATGACTCAGCCCTGCTCTGGTACTTTGGCTACCAGAGTCGGCCTCAGCTAAGATGTGGGGCCTGAGAGGCAGAGTGAAGAAAGGGAAGTAAGCTGGCATCCTGGAGCCCCAAAGGCAGAGCCAGCTGACAATGCTGACTGGAGCCCCCATCTACATAGCAAATGTAGGGAGACCTCCCTTCAGCAAACTGTAACCAAGATTGGCCACCAAAGATCTAAACCCAAGTAATTCCAAGCCTTTGGCAGGAACATCAAAGCCTTTTACCTGCTTTCCAAACAACACAGAGAAGAAACCAACTCCGTGCCTGAGGGCAGCTGTTGAGTGCCAGGCCATGGAAGTTCCCGCATCAGGGAGAGCCAGGTTAGGTGGGCAAACAGCAGCCTCAGCACCTGGTAGTAAGCTAAACAACACCACCCTCTTTTCTGAACCCCACAAATTGTATGGACTTGCCTGGGGAGAAGAGGCCAGGTTGGGGAACCAGGAATAGGTCCCTGCCCTGCCTCAGCTGCCGGCGTGAAAGCCCACATCCAAGCTGTGCTCTTACCAATGGTAGGGATGGTGGTGACGATCTCCCCGAGTTTCAGCTTGTATAGGATGGTGGTCTTTCCTGCGGCATCCAGGCCCACCATCAGGATGCGCATCTCCTTCTTCCCAATCAGGCTCTTGAGAAGGTTTCCAAAGATATTGCCCATGATCACAGCAGCTGCTTTCTGGGGACAGTGGGGCCCAAGTAGGGGCAGTGGCAGTCTGGTTTTGGCCTGGTCCCTGGTATGGAAGACTTGATCCTAGACAAAGGAAATGTAAAATCATACCATCATTTGCTTGTCAGGACTTCCAAGTAAATAGAATTTCCCAAGGTCATGGCTAGAGTTCATTCATGACAAACGGAGAGCCTGAGGGGACTATAAATACCAAGGCCCACTCAGATACATACTGAGTCTTTGGGAACAGAGACAAAGCAGTAAACACTAAGGATCCCTGCTCTGCCAGTAATCTAACCATGTGACTCTGGGCAAGTTACTTCACTTTTCCATATCTGCACCTGTAAATGGAAGGGGGATTGAACTAGATGATTTCTGAAGTCCCTTCAGTTCTGACATTCTACCCTATACCCAAAGGCATTGTAAGATCATTAATGCCCCTCCCTCCCCTAACCTTACTTACCCTGAGACTTCTGGCAAGGGTGGGAGAGGAGGGAGCGGAATAAGGAGTGGCTCTCTGTGACTCCTGACAAGGTTCAGGCTTGCCAGTTTCCCAAGGTTTATGCTTTCTCCTTTAATCAAGAGACTCTGCCTCTTCCCTTC
|
ATGGAGGGTGAAGGGACAGCAAGGATGGTCTGAGGGCCTGGAAACAATAGAAAATCTTCGTCCTTTAGCATATCCTGGACTAGAAAACAAGAGTTGGAGAAGAGGGGGGTTGATACTAAGGTCAGCTATGTCACCCCACTTCCCAGCTCCTCATTAGAATACCCAGTCAGCCCTGGTCAGGCCAGTAGGAGTACTAGGGTGAGAAAATTCTGACCAAGGACAGATGACCCATCCAACCCCTAAGATCAGAAGGGTGGTGGGGCACTGGAAGGCAGGAATGGGATTGGCCCATGCCTCACCTTCTCCTAATAACAAAAGAGAATGAAGATGGAAAACCTCAGGCCTTCGCCTCCCTTCCCCCAATGCCCTGGGTCCCTAACACACACCATGGACTTGCCATCCCCACCCCCCAGTCAAGCTCCAGAGGAACAGATCTGAAGATGGTGGGGAAGGATCAGTTGAACACTCTAAGCTGATAAGAGTGAGTGGGTTCCTCTCTCCTTCCCAACAGTAAGGCAGAGCAGAGTGGCATCTCCTTGGGAACAGTCATCTAGAGATAAATGCCATCCTCCAGCCCTAAGAAGGGTGGAGAGAAGAGTACAAGGAAAATGGTGGTGAAGAATCCATCATCTGTCCTATCATCCAGAAAAACCTACCTGCAGAGAGGAGGGTAACCAGTCAAAGACTGGGGCAGTCCGGCTTGACTAATGCCCTCCCACCTTCTTCCCTTAATCTCACCAACACGGAAGGGGCAGATGACAGGCTCCAGTGGGCAGTGTCCTGGCTGCAAGCCCTGAGCTTCACTCCACCCCCTCCCCGCTCCCCCCGGCCCCCACAAATATATCTCTCTATACATGTATATACAGGCGCACACATGCACGCAAACACAGAGAGGCCCGTGCAATTTCCATGTAAAACAGGGAGAGGGTGGCAAAGGAAAGGCAAACAGGGAGTAGAAGGGCTTGTGGGGACAGGGAAAGGACTCAGATGCCAAGAGGACAGCAACCACTGCCAAACAAAGAGAATACCCCACTCGACCTCCCGAAACCCAGAGGGTGAGAGAGAGAGGGGCCACCCCATGAAACCGTAACAACTTTTTGTTTTAAATCCAGTAAATTGGAATGACTCATCATCAGGACAGCAATTAGGGATTGGTCATATAGGTGGACAGGAAAAAGGAGGGGAGGCAGGGGAGGCAAGGCTCTTGCTGGGCATGTGGACATGATACCCAGGGCCCTGGCCACACTTGCATGGAGAGGAAGGGGTAGGACTGGGGCAGGGTGACAGTAGGTATGTCAGGGGTGGGTGGGGTGCTTTGTTAGGGCTGTCTGGCTTTCACTTCTTGTTTTTGAGCTGATTGGCCAGCCAGTCCAGGCCTTCGTACAGCCCGTCCCCGCTGGTGGCACAGGTGGCCTGAATGTACCAGTTACGGTGACGAAGGGAATGCAGGCCCAGCTTGTCTGTGATCTCAGCAGCGTTCATAGCATTAGGCAGATCCTGGAGCACGTGGGAGACACATAAAAAGAAGCCTCAGGATTTTTTAAAGGCTTCTAGAACACCCATCTACCAAAGAAATGTGTACCAGCACCTTCCCCTCCTCCTTTATTTTAGGAAACCCAGAACAAGATCCTAAGGAGCTACTTTGGATTTAGTCACCTAGAACTCAAGATCCAAAGCACTAGAGGTCACTGTACTGAAGAATTGGAAACCAAATACGAGGATGGTGGGGAAGCAAGAGACGTGATTCAGACTGACCAAAGAATCAGGTCTGTCTGACAGCAGGAGTGAGGCCAATTCTCCTAAAGTAGATAACAGGCAAGATGAAAGAAAGATTTGAGACAATTCCTGAGGACTGAAATGTTGCTAAATAAAGCTTGGGGTGGGGCACAAGAAGAGGGGCATAAAGAAGCCAAGTGCTCAGTTTCCCACGCTTCTAACATTGAGAGCATACTAAAAGGGTTAACCATATAATAGGCCCAAGAGCCAACAATTTCCACAGCCAGTTTGCTGTCTCCCAAATTCAGGGGTGGGAAGAAGTCTCACCTGTTCGTTTGCAAAGACAAGGAGTACAGCATCCCGGAGCTCGTCCTCCGCCAGCATTCTCATCAGCTCTTCCCGGGCCTCATTTACTCGCTCCCGATCATTGCTGTCGACCACAAATATCAACCCTAGGAAGGCAGAGCATGGGCTGCACTAAGATGACAGGTAACCCCCTCCCCCCAACCAAAAGACCACACCTGCCTGACACCCTCCAAATATTTGCTCCCTTTCCTCCCTTTCTTCTGCCCCCAGGAGCTGCAGCAGGGTAACAGTTGGCCACCCATTAACAAAGACAGCCACACTCTCTGCTCATACCCAACCAACCCACGCTAGGCCTGAGCATACCTTGGGTGTTCTGGAAGTAGTGTCTCCAGAGGGGTCGAATCTTGTCCTGGCCACCCACATCCCACACTGTAAAGCTGATGTTCTTATACTCCACTGTCTCCACATTGAACCCTTTGGAAAAAAAACAGGCAATGGCCACTTGGCCTCAAACACTAGCCCCGCAAACACCACCACAATGAGTTTGGTTCTGCTTTCCCCCAGTGGTGGCCATAACACCAACAATGGAACAAAAGCTAAGGCTTCCTCAGACCTGATAATCGTTAAGCTAGCAGCCTGAAGGCCAAAATGAAAACCTAAGAGAAGTCAAAGAGGATGAGGAAGTTGGTTGAGAGGTTCACAGTTGCCTGGGTAACGTGGGCCAACTTTCCTGACTTTTCCACTCAGTCTTTGGTGCTCCCTCCTACAAAATGACTCAGCCCTGCTCTGGTACTTTGGCTACCAGAGTCGGCCTCAGCTAAGATGTGGGGCCTGAGAGGCAGAGTGAAGAAAGGGAAGTAAGCTGGCATCCTGGAGCCCCAAAGGCAGAGCCAGCTGACAATGCTGACTGGAGCCCCCATCTACATAGCAAATGTAGGGAGACCTCCCTTCAGCAAACTGTAACCAAGATTGGCCACCAAAGATCTAAACCCAAGTAATTCCAAGCCTTTGGCAGGAACATCAAAGCCTTTTACCTGCTTTCCAAACAACACAGAGAAGAAACCAACTCCGTGCCTGAGGGCAGCTGTTGAGTGCCAGGCCATGGAAGTTCCCGCATCAGGGAGAGCCAGGTTAGGTGGGCAAACAGCAGCCTCAGCACCTGGTAGTAAGCTAAACAACACCACCCTCTTTTCTGAACCCCACAAATTGTATGGACTTGCCTGGGGAGAAGAGGCCAGGTTGGGGAACCAGGAATAGGTCCCTGCCCTGCCTCAGCTGCCGGCGTGAAAGCCCACATCCAAGCTGTGCTCTTACCAATGGTAGGGATGGTGGTGACGATCTCCCCGAGTTTCAGCTTGTATAGGATGGTGGTCTTTCCTGCGGCATCCAGGCCCACCATCAGGATGCGCATCTCCTTCTTCCCAATCAGGCTCTTGAGAAGGTTTCCAAAGATATTGCCCATGATCACAGCAGCTGCTTTCTGGGGACAGTGGGGCCCAAGTAGGGGCAGTGGCAGTCTGGTTTTGGCCTGGTCCCTGGTATGGAAGACTTGATCCTAGACAAAGGAAATGTAAAATCATACCATCATTTGCTTGTCAGGACTTCCAAGTAAATAGAATTTCCCAAGGTCATGGCTAGAGTTCATTCATGACAAACGGAGAGCCTGAGGGGACTATAAATACCAAGGCCCACTCAGATACATACTGAGTCTTTGGGAACAGAGACAAAGCAGTAAACACTAAGGATCCCTGCTCTGCCAGTAATCTAACCATGTGACTCTGGGCAAGTTACTTCACTTTTCCATATCTGCACCTGTAAATGGAAGGGGGATTGAACTAGATGATTTCTGAAGTCCCTTCAGTTCTGACATTCTACCCTATACCCAAAGGCATTGTAAGATCATTAATGCCCCTCCCTCCCCTAACCTTACTTACCCTGAGACTTCTGGCAAGGGTGGGAGAGGAGGGAGCGGAATAAGGAGTGGCTCTCTGTGACTCCTGACAAGGTTCAGGCTTGCCAGTTTCCCAAGGTTTATGCTTTCTCCTTTAATCAAGAGACTCTGCCTCTTCCCTTC
|
Task1_train_17539
|
This gene mutation involves ARF3 (ARF GTPase 3) on Chromosome 12. Is it associated with any clinical condition, or is it benign?
|
Pathogenic; Atrophy/Degeneration affecting the central nervous system
|
CCATCCCCACCCCCCAGTCAAGCTCCAGAGGAACAGATCTGAAGATGGTGGGGAAGGATCAGTTGAACACTCTAAGCTGATAAGAGTGAGTGGGTTCCTCTCTCCTTCCCAACAGTAAGGCAGAGCAGAGTGGCATCTCCTTGGGAACAGTCATCTAGAGATAAATGCCATCCTCCAGCCCTAAGAAGGGTGGAGAGAAGAGTACAAGGAAAATGGTGGTGAAGAATCCATCATCTGTCCTATCATCCAGAAAAACCTACCTGCAGAGAGGAGGGTAACCAGTCAAAGACTGGGGCAGTCCGGCTTGACTAATGCCCTCCCACCTTCTTCCCTTAATCTCACCAACACGGAAGGGGCAGATGACAGGCTCCAGTGGGCAGTGTCCTGGCTGCAAGCCCTGAGCTTCACTCCACCCCCTCCCCGCTCCCCCCGGCCCCCACAAATATATCTCTCTATACATGTATATACAGGCGCACACATGCACGCAAACACAGAGAGGCCCGTGCAATTTCCATGTAAAACAGGGAGAGGGTGGCAAAGGAAAGGCAAACAGGGAGTAGAAGGGCTTGTGGGGACAGGGAAAGGACTCAGATGCCAAGAGGACAGCAACCACTGCCAAACAAAGAGAATACCCCACTCGACCTCCCGAAACCCAGAGGGTGAGAGAGAGAGGGGCCACCCCATGAAACCGTAACAACTTTTTGTTTTAAATCCAGTAAATTGGAATGACTCATCATCAGGACAGCAATTAGGGATTGGTCATATAGGTGGACAGGAAAAAGGAGGGGAGGCAGGGGAGGCAAGGCTCTTGCTGGGCATGTGGACATGATACCCAGGGCCCTGGCCACACTTGCATGGAGAGGAAGGGGTAGGACTGGGGCAGGGTGACAGTAGGTATGTCAGGGGTGGGTGGGGTGCTTTGTTAGGGCTGTCTGGCTTTCACTTCTTGTTTTTGAGCTGATTGGCCAGCCAGTCCAGGCCTTCGTACAGCCCGTCCCCGCTGGTGGCACAGGTGGCCTGAATGTACCAGTTACGGTGACGAAGGGAATGCAGGCCCAGCTTGTCTGTGATCTCAGCAGCGTTCATAGCATTAGGCAGATCCTGGAGCACGTGGGAGACACATAAAAAGAAGCCTCAGGATTTTTTAAAGGCTTCTAGAACACCCATCTACCAAAGAAATGTGTACCAGCACCTTCCCCTCCTCCTTTATTTTAGGAAACCCAGAACAAGATCCTAAGGAGCTACTTTGGATTTAGTCACCTAGAACTCAAGATCCAAAGCACTAGAGGTCACTGTACTGAAGAATTGGAAACCAAATACGAGGATGGTGGGGAAGCAAGAGACGTGATTCAGACTGACCAAAGAATCAGGTCTGTCTGACAGCAGGAGTGAGGCCAATTCTCCTAAAGTAGATAACAGGCAAGATGAAAGAAAGATTTGAGACAATTCCTGAGGACTGAAATGTTGCTAAATAAAGCTTGGGGTGGGGCACAAGAAGAGGGGCATAAAGAAGCCAAGTGCTCAGTTTCCCACGCTTCTAACATTGAGAGCATACTAAAAGGGTTAACCATATAATAGGCCCAAGAGCCAACAATTTCCACAGCCAGTTTGCTGTCTCCCAAATTCAGGGGTGGGAAGAAGTCTCACCTGTTTGTTTGCAAAGACAAGGAGTACAGCATCCCGGAGCTCGTCCTCCGCCAGCATTCTCATCAGCTCTTCCCGGGCCTCATTTACTCGCTCCCGATCATTGCTGTCGACCACAAATATCAACCCTAGGAAGGCAGAGCATGGGCTGCACTAAGATGACAGGTAACCCCCTCCCCCCAACCAAAAGACCACACCTGCCTGACACCCTCCAAATATTTGCTCCCTTTCCTCCCTTTCTTCTGCCCCCAGGAGCTGCAGCAGGGTAACAGTTGGCCACCCATTAACAAAGACAGCCACACTCTCTGCTCATACCCAACCAACCCACGCTAGGCCTGAGCATACCTTGGGTGTTCTGGAAGTAGTGTCTCCAGAGGGGTCGAATCTTGTCCTGGCCACCCACATCCCACACTGTAAAGCTGATGTTCTTATACTCCACTGTCTCCACATTGAACCCTTTGGAAAAAAAACAGGCAATGGCCACTTGGCCTCAAACACTAGCCCCGCAAACACCACCACAATGAGTTTGGTTCTGCTTTCCCCCAGTGGTGGCCATAACACCAACAATGGAACAAAAGCTAAGGCTTCCTCAGACCTGATAATCGTTAAGCTAGCAGCCTGAAGGCCAAAATGAAAACCTAAGAGAAGTCAAAGAGGATGAGGAAGTTGGTTGAGAGGTTCACAGTTGCCTGGGTAACGTGGGCCAACTTTCCTGACTTTTCCACTCAGTCTTTGGTGCTCCCTCCTACAAAATGACTCAGCCCTGCTCTGGTACTTTGGCTACCAGAGTCGGCCTCAGCTAAGATGTGGGGCCTGAGAGGCAGAGTGAAGAAAGGGAAGTAAGCTGGCATCCTGGAGCCCCAAAGGCAGAGCCAGCTGACAATGCTGACTGGAGCCCCCATCTACATAGCAAATGTAGGGAGACCTCCCTTCAGCAAACTGTAACCAAGATTGGCCACCAAAGATCTAAACCCAAGTAATTCCAAGCCTTTGGCAGGAACATCAAAGCCTTTTACCTGCTTTCCAAACAACACAGAGAAGAAACCAACTCCGTGCCTGAGGGCAGCTGTTGAGTGCCAGGCCATGGAAGTTCCCGCATCAGGGAGAGCCAGGTTAGGTGGGCAAACAGCAGCCTCAGCACCTGGTAGTAAGCTAAACAACACCACCCTCTTTTCTGAACCCCACAAATTGTATGGACTTGCCTGGGGAGAAGAGGCCAGGTTGGGGAACCAGGAATAGGTCCCTGCCCTGCCTCAGCTGCCGGCGTGAAAGCCCACATCCAAGCTGTGCTCTTACCAATGGTAGGGATGGTGGTGACGATCTCCCCGAGTTTCAGCTTGTATAGGATGGTGGTCTTTCCTGCGGCATCCAGGCCCACCATCAGGATGCGCATCTCCTTCTTCCCAATCAGGCTCTTGAGAAGGTTTCCAAAGATATTGCCCATGATCACAGCAGCTGCTTTCTGGGGACAGTGGGGCCCAAGTAGGGGCAGTGGCAGTCTGGTTTTGGCCTGGTCCCTGGTATGGAAGACTTGATCCTAGACAAAGGAAATGTAAAATCATACCATCATTTGCTTGTCAGGACTTCCAAGTAAATAGAATTTCCCAAGGTCATGGCTAGAGTTCATTCATGACAAACGGAGAGCCTGAGGGGACTATAAATACCAAGGCCCACTCAGATACATACTGAGTCTTTGGGAACAGAGACAAAGCAGTAAACACTAAGGATCCCTGCTCTGCCAGTAATCTAACCATGTGACTCTGGGCAAGTTACTTCACTTTTCCATATCTGCACCTGTAAATGGAAGGGGGATTGAACTAGATGATTTCTGAAGTCCCTTCAGTTCTGACATTCTACCCTATACCCAAAGGCATTGTAAGATCATTAATGCCCCTCCCTCCCCTAACCTTACTTACCCTGAGACTTCTGGCAAGGGTGGGAGAGGAGGGAGCGGAATAAGGAGTGGCTCTCTGTGACTCCTGACAAGGTTCAGGCTTGCCAGTTTCCCAAGGTTTATGCTTTCTCCTTTAATCAAGAGACTCTGCCTCTTCCCTTCCTATATTTTTGCAACTCCATCTTTCTTCCACACCAAAATAAAGGAGGAATAAGAAAGCCGCACTCTTAAAAGAAGCCGATCCTTTACACTCTGTGGAATGCCAGCTGCTAATGTTGTGCCCTGTTCAAACAACAGTGCACTGGCAGTAGAGAGGTGGGGTATGGCGGGGCTACCCCTTTACTCCTCAGCTAGGTGCATCCTTGGCTTACTGTGGCCCATCCAAGGAGGGGGCTGTCCCACATGGTCGCTGCAATGAGGCAGTCATCTCATTGGTTCTCTGCTTCTTCCCTAAGCCTTTCGGCCTATTCTCCATATAGCATCTAGGGTGGTTTTAAAACCAAACTCAGGTCATATGAGTCCTTTGTTCAAAACCCACTCGTGGCTTCATAGCTCCTT
|
CCATCCCCACCCCCCAGTCAAGCTCCAGAGGAACAGATCTGAAGATGGTGGGGAAGGATCAGTTGAACACTCTAAGCTGATAAGAGTGAGTGGGTTCCTCTCTCCTTCCCAACAGTAAGGCAGAGCAGAGTGGCATCTCCTTGGGAACAGTCATCTAGAGATAAATGCCATCCTCCAGCCCTAAGAAGGGTGGAGAGAAGAGTACAAGGAAAATGGTGGTGAAGAATCCATCATCTGTCCTATCATCCAGAAAAACCTACCTGCAGAGAGGAGGGTAACCAGTCAAAGACTGGGGCAGTCCGGCTTGACTAATGCCCTCCCACCTTCTTCCCTTAATCTCACCAACACGGAAGGGGCAGATGACAGGCTCCAGTGGGCAGTGTCCTGGCTGCAAGCCCTGAGCTTCACTCCACCCCCTCCCCGCTCCCCCCGGCCCCCACAAATATATCTCTCTATACATGTATATACAGGCGCACACATGCACGCAAACACAGAGAGGCCCGTGCAATTTCCATGTAAAACAGGGAGAGGGTGGCAAAGGAAAGGCAAACAGGGAGTAGAAGGGCTTGTGGGGACAGGGAAAGGACTCAGATGCCAAGAGGACAGCAACCACTGCCAAACAAAGAGAATACCCCACTCGACCTCCCGAAACCCAGAGGGTGAGAGAGAGAGGGGCCACCCCATGAAACCGTAACAACTTTTTGTTTTAAATCCAGTAAATTGGAATGACTCATCATCAGGACAGCAATTAGGGATTGGTCATATAGGTGGACAGGAAAAAGGAGGGGAGGCAGGGGAGGCAAGGCTCTTGCTGGGCATGTGGACATGATACCCAGGGCCCTGGCCACACTTGCATGGAGAGGAAGGGGTAGGACTGGGGCAGGGTGACAGTAGGTATGTCAGGGGTGGGTGGGGTGCTTTGTTAGGGCTGTCTGGCTTTCACTTCTTGTTTTTGAGCTGATTGGCCAGCCAGTCCAGGCCTTCGTACAGCCCGTCCCCGCTGGTGGCACAGGTGGCCTGAATGTACCAGTTACGGTGACGAAGGGAATGCAGGCCCAGCTTGTCTGTGATCTCAGCAGCGTTCATAGCATTAGGCAGATCCTGGAGCACGTGGGAGACACATAAAAAGAAGCCTCAGGATTTTTTAAAGGCTTCTAGAACACCCATCTACCAAAGAAATGTGTACCAGCACCTTCCCCTCCTCCTTTATTTTAGGAAACCCAGAACAAGATCCTAAGGAGCTACTTTGGATTTAGTCACCTAGAACTCAAGATCCAAAGCACTAGAGGTCACTGTACTGAAGAATTGGAAACCAAATACGAGGATGGTGGGGAAGCAAGAGACGTGATTCAGACTGACCAAAGAATCAGGTCTGTCTGACAGCAGGAGTGAGGCCAATTCTCCTAAAGTAGATAACAGGCAAGATGAAAGAAAGATTTGAGACAATTCCTGAGGACTGAAATGTTGCTAAATAAAGCTTGGGGTGGGGCACAAGAAGAGGGGCATAAAGAAGCCAAGTGCTCAGTTTCCCACGCTTCTAACATTGAGAGCATACTAAAAGGGTTAACCATATAATAGGCCCAAGAGCCAACAATTTCCACAGCCAGTTTGCTGTCTCCCAAATTCAGGGGTGGGAAGAAGTCTCACCTGTTTGTTTGCAAAGACAAGGAGTACAGCATCCCGGAGCTCGTCCTCCGCCAGCATTCTCATCAGCTCTTCCCGGGCCTCATTTACTCGCTCCCGATCATTGCTGTCGACCACAAATATCAACCCTAGGAAGGCAGAGCATGGGCTGCACTAAGATGACAGGTAACCCCCTCCCCCCAACCAAAAGACCACACCTGCCTGACACCCTCCAAATATTTGCTCCCTTTCCTCCCTTTCTTCTGCCCCCAGGAGCTGCAGCAGGGTAACAGTTGGCCACCCATTAACAAAGACAGCCACACTCTCTGCTCATACCCAACCAACCCACGCTAGGCCTGAGCATACCTTGGGTGTTCTGGAAGTAGTGTCTCCAGAGGGGTCGAATCTTGTCCTGGCCACCCACAACCCACACTGTAAAGCTGATGTTCTTATACTCCACTGTCTCCACATTGAACCCTTTGGAAAAAAAACAGGCAATGGCCACTTGGCCTCAAACACTAGCCCCGCAAACACCACCACAATGAGTTTGGTTCTGCTTTCCCCCAGTGGTGGCCATAACACCAACAATGGAACAAAAGCTAAGGCTTCCTCAGACCTGATAATCGTTAAGCTAGCAGCCTGAAGGCCAAAATGAAAACCTAAGAGAAGTCAAAGAGGATGAGGAAGTTGGTTGAGAGGTTCACAGTTGCCTGGGTAACGTGGGCCAACTTTCCTGACTTTTCCACTCAGTCTTTGGTGCTCCCTCCTACAAAATGACTCAGCCCTGCTCTGGTACTTTGGCTACCAGAGTCGGCCTCAGCTAAGATGTGGGGCCTGAGAGGCAGAGTGAAGAAAGGGAAGTAAGCTGGCATCCTGGAGCCCCAAAGGCAGAGCCAGCTGACAATGCTGACTGGAGCCCCCATCTACATAGCAAATGTAGGGAGACCTCCCTTCAGCAAACTGTAACCAAGATTGGCCACCAAAGATCTAAACCCAAGTAATTCCAAGCCTTTGGCAGGAACATCAAAGCCTTTTACCTGCTTTCCAAACAACACAGAGAAGAAACCAACTCCGTGCCTGAGGGCAGCTGTTGAGTGCCAGGCCATGGAAGTTCCCGCATCAGGGAGAGCCAGGTTAGGTGGGCAAACAGCAGCCTCAGCACCTGGTAGTAAGCTAAACAACACCACCCTCTTTTCTGAACCCCACAAATTGTATGGACTTGCCTGGGGAGAAGAGGCCAGGTTGGGGAACCAGGAATAGGTCCCTGCCCTGCCTCAGCTGCCGGCGTGAAAGCCCACATCCAAGCTGTGCTCTTACCAATGGTAGGGATGGTGGTGACGATCTCCCCGAGTTTCAGCTTGTATAGGATGGTGGTCTTTCCTGCGGCATCCAGGCCCACCATCAGGATGCGCATCTCCTTCTTCCCAATCAGGCTCTTGAGAAGGTTTCCAAAGATATTGCCCATGATCACAGCAGCTGCTTTCTGGGGACAGTGGGGCCCAAGTAGGGGCAGTGGCAGTCTGGTTTTGGCCTGGTCCCTGGTATGGAAGACTTGATCCTAGACAAAGGAAATGTAAAATCATACCATCATTTGCTTGTCAGGACTTCCAAGTAAATAGAATTTCCCAAGGTCATGGCTAGAGTTCATTCATGACAAACGGAGAGCCTGAGGGGACTATAAATACCAAGGCCCACTCAGATACATACTGAGTCTTTGGGAACAGAGACAAAGCAGTAAACACTAAGGATCCCTGCTCTGCCAGTAATCTAACCATGTGACTCTGGGCAAGTTACTTCACTTTTCCATATCTGCACCTGTAAATGGAAGGGGGATTGAACTAGATGATTTCTGAAGTCCCTTCAGTTCTGACATTCTACCCTATACCCAAAGGCATTGTAAGATCATTAATGCCCCTCCCTCCCCTAACCTTACTTACCCTGAGACTTCTGGCAAGGGTGGGAGAGGAGGGAGCGGAATAAGGAGTGGCTCTCTGTGACTCCTGACAAGGTTCAGGCTTGCCAGTTTCCCAAGGTTTATGCTTTCTCCTTTAATCAAGAGACTCTGCCTCTTCCCTTCCTATATTTTTGCAACTCCATCTTTCTTCCACACCAAAATAAAGGAGGAATAAGAAAGCCGCACTCTTAAAAGAAGCCGATCCTTTACACTCTGTGGAATGCCAGCTGCTAATGTTGTGCCCTGTTCAAACAACAGTGCACTGGCAGTAGAGAGGTGGGGTATGGCGGGGCTACCCCTTTACTCCTCAGCTAGGTGCATCCTTGGCTTACTGTGGCCCATCCAAGGAGGGGGCTGTCCCACATGGTCGCTGCAATGAGGCAGTCATCTCATTGGTTCTCTGCTTCTTCCCTAAGCCTTTCGGCCTATTCTCCATATAGCATCTAGGGTGGTTTTAAAACCAAACTCAGGTCATATGAGTCCTTTGTTCAAAACCCACTCGTGGCTTCATAGCTCCTT
|
Task1_train_17540
|
A variant found in Chromosome 12 affects ARF3 (ARF GTPase 3). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
|
Pathogenic; Dystonic disorder
|
CCATCCCCACCCCCCAGTCAAGCTCCAGAGGAACAGATCTGAAGATGGTGGGGAAGGATCAGTTGAACACTCTAAGCTGATAAGAGTGAGTGGGTTCCTCTCTCCTTCCCAACAGTAAGGCAGAGCAGAGTGGCATCTCCTTGGGAACAGTCATCTAGAGATAAATGCCATCCTCCAGCCCTAAGAAGGGTGGAGAGAAGAGTACAAGGAAAATGGTGGTGAAGAATCCATCATCTGTCCTATCATCCAGAAAAACCTACCTGCAGAGAGGAGGGTAACCAGTCAAAGACTGGGGCAGTCCGGCTTGACTAATGCCCTCCCACCTTCTTCCCTTAATCTCACCAACACGGAAGGGGCAGATGACAGGCTCCAGTGGGCAGTGTCCTGGCTGCAAGCCCTGAGCTTCACTCCACCCCCTCCCCGCTCCCCCCGGCCCCCACAAATATATCTCTCTATACATGTATATACAGGCGCACACATGCACGCAAACACAGAGAGGCCCGTGCAATTTCCATGTAAAACAGGGAGAGGGTGGCAAAGGAAAGGCAAACAGGGAGTAGAAGGGCTTGTGGGGACAGGGAAAGGACTCAGATGCCAAGAGGACAGCAACCACTGCCAAACAAAGAGAATACCCCACTCGACCTCCCGAAACCCAGAGGGTGAGAGAGAGAGGGGCCACCCCATGAAACCGTAACAACTTTTTGTTTTAAATCCAGTAAATTGGAATGACTCATCATCAGGACAGCAATTAGGGATTGGTCATATAGGTGGACAGGAAAAAGGAGGGGAGGCAGGGGAGGCAAGGCTCTTGCTGGGCATGTGGACATGATACCCAGGGCCCTGGCCACACTTGCATGGAGAGGAAGGGGTAGGACTGGGGCAGGGTGACAGTAGGTATGTCAGGGGTGGGTGGGGTGCTTTGTTAGGGCTGTCTGGCTTTCACTTCTTGTTTTTGAGCTGATTGGCCAGCCAGTCCAGGCCTTCGTACAGCCCGTCCCCGCTGGTGGCACAGGTGGCCTGAATGTACCAGTTACGGTGACGAAGGGAATGCAGGCCCAGCTTGTCTGTGATCTCAGCAGCGTTCATAGCATTAGGCAGATCCTGGAGCACGTGGGAGACACATAAAAAGAAGCCTCAGGATTTTTTAAAGGCTTCTAGAACACCCATCTACCAAAGAAATGTGTACCAGCACCTTCCCCTCCTCCTTTATTTTAGGAAACCCAGAACAAGATCCTAAGGAGCTACTTTGGATTTAGTCACCTAGAACTCAAGATCCAAAGCACTAGAGGTCACTGTACTGAAGAATTGGAAACCAAATACGAGGATGGTGGGGAAGCAAGAGACGTGATTCAGACTGACCAAAGAATCAGGTCTGTCTGACAGCAGGAGTGAGGCCAATTCTCCTAAAGTAGATAACAGGCAAGATGAAAGAAAGATTTGAGACAATTCCTGAGGACTGAAATGTTGCTAAATAAAGCTTGGGGTGGGGCACAAGAAGAGGGGCATAAAGAAGCCAAGTGCTCAGTTTCCCACGCTTCTAACATTGAGAGCATACTAAAAGGGTTAACCATATAATAGGCCCAAGAGCCAACAATTTCCACAGCCAGTTTGCTGTCTCCCAAATTCAGGGGTGGGAAGAAGTCTCACCTGTTTGTTTGCAAAGACAAGGAGTACAGCATCCCGGAGCTCGTCCTCCGCCAGCATTCTCATCAGCTCTTCCCGGGCCTCATTTACTCGCTCCCGATCATTGCTGTCGACCACAAATATCAACCCTAGGAAGGCAGAGCATGGGCTGCACTAAGATGACAGGTAACCCCCTCCCCCCAACCAAAAGACCACACCTGCCTGACACCCTCCAAATATTTGCTCCCTTTCCTCCCTTTCTTCTGCCCCCAGGAGCTGCAGCAGGGTAACAGTTGGCCACCCATTAACAAAGACAGCCACACTCTCTGCTCATACCCAACCAACCCACGCTAGGCCTGAGCATACCTTGGGTGTTCTGGAAGTAGTGTCTCCAGAGGGGTCGAATCTTGTCCTGGCCACCCACATCCCACACTGTAAAGCTGATGTTCTTATACTCCACTGTCTCCACATTGAACCCTTTGGAAAAAAAACAGGCAATGGCCACTTGGCCTCAAACACTAGCCCCGCAAACACCACCACAATGAGTTTGGTTCTGCTTTCCCCCAGTGGTGGCCATAACACCAACAATGGAACAAAAGCTAAGGCTTCCTCAGACCTGATAATCGTTAAGCTAGCAGCCTGAAGGCCAAAATGAAAACCTAAGAGAAGTCAAAGAGGATGAGGAAGTTGGTTGAGAGGTTCACAGTTGCCTGGGTAACGTGGGCCAACTTTCCTGACTTTTCCACTCAGTCTTTGGTGCTCCCTCCTACAAAATGACTCAGCCCTGCTCTGGTACTTTGGCTACCAGAGTCGGCCTCAGCTAAGATGTGGGGCCTGAGAGGCAGAGTGAAGAAAGGGAAGTAAGCTGGCATCCTGGAGCCCCAAAGGCAGAGCCAGCTGACAATGCTGACTGGAGCCCCCATCTACATAGCAAATGTAGGGAGACCTCCCTTCAGCAAACTGTAACCAAGATTGGCCACCAAAGATCTAAACCCAAGTAATTCCAAGCCTTTGGCAGGAACATCAAAGCCTTTTACCTGCTTTCCAAACAACACAGAGAAGAAACCAACTCCGTGCCTGAGGGCAGCTGTTGAGTGCCAGGCCATGGAAGTTCCCGCATCAGGGAGAGCCAGGTTAGGTGGGCAAACAGCAGCCTCAGCACCTGGTAGTAAGCTAAACAACACCACCCTCTTTTCTGAACCCCACAAATTGTATGGACTTGCCTGGGGAGAAGAGGCCAGGTTGGGGAACCAGGAATAGGTCCCTGCCCTGCCTCAGCTGCCGGCGTGAAAGCCCACATCCAAGCTGTGCTCTTACCAATGGTAGGGATGGTGGTGACGATCTCCCCGAGTTTCAGCTTGTATAGGATGGTGGTCTTTCCTGCGGCATCCAGGCCCACCATCAGGATGCGCATCTCCTTCTTCCCAATCAGGCTCTTGAGAAGGTTTCCAAAGATATTGCCCATGATCACAGCAGCTGCTTTCTGGGGACAGTGGGGCCCAAGTAGGGGCAGTGGCAGTCTGGTTTTGGCCTGGTCCCTGGTATGGAAGACTTGATCCTAGACAAAGGAAATGTAAAATCATACCATCATTTGCTTGTCAGGACTTCCAAGTAAATAGAATTTCCCAAGGTCATGGCTAGAGTTCATTCATGACAAACGGAGAGCCTGAGGGGACTATAAATACCAAGGCCCACTCAGATACATACTGAGTCTTTGGGAACAGAGACAAAGCAGTAAACACTAAGGATCCCTGCTCTGCCAGTAATCTAACCATGTGACTCTGGGCAAGTTACTTCACTTTTCCATATCTGCACCTGTAAATGGAAGGGGGATTGAACTAGATGATTTCTGAAGTCCCTTCAGTTCTGACATTCTACCCTATACCCAAAGGCATTGTAAGATCATTAATGCCCCTCCCTCCCCTAACCTTACTTACCCTGAGACTTCTGGCAAGGGTGGGAGAGGAGGGAGCGGAATAAGGAGTGGCTCTCTGTGACTCCTGACAAGGTTCAGGCTTGCCAGTTTCCCAAGGTTTATGCTTTCTCCTTTAATCAAGAGACTCTGCCTCTTCCCTTCCTATATTTTTGCAACTCCATCTTTCTTCCACACCAAAATAAAGGAGGAATAAGAAAGCCGCACTCTTAAAAGAAGCCGATCCTTTACACTCTGTGGAATGCCAGCTGCTAATGTTGTGCCCTGTTCAAACAACAGTGCACTGGCAGTAGAGAGGTGGGGTATGGCGGGGCTACCCCTTTACTCCTCAGCTAGGTGCATCCTTGGCTTACTGTGGCCCATCCAAGGAGGGGGCTGTCCCACATGGTCGCTGCAATGAGGCAGTCATCTCATTGGTTCTCTGCTTCTTCCCTAAGCCTTTCGGCCTATTCTCCATATAGCATCTAGGGTGGTTTTAAAACCAAACTCAGGTCATATGAGTCCTTTGTTCAAAACCCACTCGTGGCTTCATAGCTCCTT
|
CCATCCCCACCCCCCAGTCAAGCTCCAGAGGAACAGATCTGAAGATGGTGGGGAAGGATCAGTTGAACACTCTAAGCTGATAAGAGTGAGTGGGTTCCTCTCTCCTTCCCAACAGTAAGGCAGAGCAGAGTGGCATCTCCTTGGGAACAGTCATCTAGAGATAAATGCCATCCTCCAGCCCTAAGAAGGGTGGAGAGAAGAGTACAAGGAAAATGGTGGTGAAGAATCCATCATCTGTCCTATCATCCAGAAAAACCTACCTGCAGAGAGGAGGGTAACCAGTCAAAGACTGGGGCAGTCCGGCTTGACTAATGCCCTCCCACCTTCTTCCCTTAATCTCACCAACACGGAAGGGGCAGATGACAGGCTCCAGTGGGCAGTGTCCTGGCTGCAAGCCCTGAGCTTCACTCCACCCCCTCCCCGCTCCCCCCGGCCCCCACAAATATATCTCTCTATACATGTATATACAGGCGCACACATGCACGCAAACACAGAGAGGCCCGTGCAATTTCCATGTAAAACAGGGAGAGGGTGGCAAAGGAAAGGCAAACAGGGAGTAGAAGGGCTTGTGGGGACAGGGAAAGGACTCAGATGCCAAGAGGACAGCAACCACTGCCAAACAAAGAGAATACCCCACTCGACCTCCCGAAACCCAGAGGGTGAGAGAGAGAGGGGCCACCCCATGAAACCGTAACAACTTTTTGTTTTAAATCCAGTAAATTGGAATGACTCATCATCAGGACAGCAATTAGGGATTGGTCATATAGGTGGACAGGAAAAAGGAGGGGAGGCAGGGGAGGCAAGGCTCTTGCTGGGCATGTGGACATGATACCCAGGGCCCTGGCCACACTTGCATGGAGAGGAAGGGGTAGGACTGGGGCAGGGTGACAGTAGGTATGTCAGGGGTGGGTGGGGTGCTTTGTTAGGGCTGTCTGGCTTTCACTTCTTGTTTTTGAGCTGATTGGCCAGCCAGTCCAGGCCTTCGTACAGCCCGTCCCCGCTGGTGGCACAGGTGGCCTGAATGTACCAGTTACGGTGACGAAGGGAATGCAGGCCCAGCTTGTCTGTGATCTCAGCAGCGTTCATAGCATTAGGCAGATCCTGGAGCACGTGGGAGACACATAAAAAGAAGCCTCAGGATTTTTTAAAGGCTTCTAGAACACCCATCTACCAAAGAAATGTGTACCAGCACCTTCCCCTCCTCCTTTATTTTAGGAAACCCAGAACAAGATCCTAAGGAGCTACTTTGGATTTAGTCACCTAGAACTCAAGATCCAAAGCACTAGAGGTCACTGTACTGAAGAATTGGAAACCAAATACGAGGATGGTGGGGAAGCAAGAGACGTGATTCAGACTGACCAAAGAATCAGGTCTGTCTGACAGCAGGAGTGAGGCCAATTCTCCTAAAGTAGATAACAGGCAAGATGAAAGAAAGATTTGAGACAATTCCTGAGGACTGAAATGTTGCTAAATAAAGCTTGGGGTGGGGCACAAGAAGAGGGGCATAAAGAAGCCAAGTGCTCAGTTTCCCACGCTTCTAACATTGAGAGCATACTAAAAGGGTTAACCATATAATAGGCCCAAGAGCCAACAATTTCCACAGCCAGTTTGCTGTCTCCCAAATTCAGGGGTGGGAAGAAGTCTCACCTGTTTGTTTGCAAAGACAAGGAGTACAGCATCCCGGAGCTCGTCCTCCGCCAGCATTCTCATCAGCTCTTCCCGGGCCTCATTTACTCGCTCCCGATCATTGCTGTCGACCACAAATATCAACCCTAGGAAGGCAGAGCATGGGCTGCACTAAGATGACAGGTAACCCCCTCCCCCCAACCAAAAGACCACACCTGCCTGACACCCTCCAAATATTTGCTCCCTTTCCTCCCTTTCTTCTGCCCCCAGGAGCTGCAGCAGGGTAACAGTTGGCCACCCATTAACAAAGACAGCCACACTCTCTGCTCATACCCAACCAACCCACGCTAGGCCTGAGCATACCTTGGGTGTTCTGGAAGTAGTGTCTCCAGAGGGGTCGAATCTTGTCCTGGCCACCCACAACCCACACTGTAAAGCTGATGTTCTTATACTCCACTGTCTCCACATTGAACCCTTTGGAAAAAAAACAGGCAATGGCCACTTGGCCTCAAACACTAGCCCCGCAAACACCACCACAATGAGTTTGGTTCTGCTTTCCCCCAGTGGTGGCCATAACACCAACAATGGAACAAAAGCTAAGGCTTCCTCAGACCTGATAATCGTTAAGCTAGCAGCCTGAAGGCCAAAATGAAAACCTAAGAGAAGTCAAAGAGGATGAGGAAGTTGGTTGAGAGGTTCACAGTTGCCTGGGTAACGTGGGCCAACTTTCCTGACTTTTCCACTCAGTCTTTGGTGCTCCCTCCTACAAAATGACTCAGCCCTGCTCTGGTACTTTGGCTACCAGAGTCGGCCTCAGCTAAGATGTGGGGCCTGAGAGGCAGAGTGAAGAAAGGGAAGTAAGCTGGCATCCTGGAGCCCCAAAGGCAGAGCCAGCTGACAATGCTGACTGGAGCCCCCATCTACATAGCAAATGTAGGGAGACCTCCCTTCAGCAAACTGTAACCAAGATTGGCCACCAAAGATCTAAACCCAAGTAATTCCAAGCCTTTGGCAGGAACATCAAAGCCTTTTACCTGCTTTCCAAACAACACAGAGAAGAAACCAACTCCGTGCCTGAGGGCAGCTGTTGAGTGCCAGGCCATGGAAGTTCCCGCATCAGGGAGAGCCAGGTTAGGTGGGCAAACAGCAGCCTCAGCACCTGGTAGTAAGCTAAACAACACCACCCTCTTTTCTGAACCCCACAAATTGTATGGACTTGCCTGGGGAGAAGAGGCCAGGTTGGGGAACCAGGAATAGGTCCCTGCCCTGCCTCAGCTGCCGGCGTGAAAGCCCACATCCAAGCTGTGCTCTTACCAATGGTAGGGATGGTGGTGACGATCTCCCCGAGTTTCAGCTTGTATAGGATGGTGGTCTTTCCTGCGGCATCCAGGCCCACCATCAGGATGCGCATCTCCTTCTTCCCAATCAGGCTCTTGAGAAGGTTTCCAAAGATATTGCCCATGATCACAGCAGCTGCTTTCTGGGGACAGTGGGGCCCAAGTAGGGGCAGTGGCAGTCTGGTTTTGGCCTGGTCCCTGGTATGGAAGACTTGATCCTAGACAAAGGAAATGTAAAATCATACCATCATTTGCTTGTCAGGACTTCCAAGTAAATAGAATTTCCCAAGGTCATGGCTAGAGTTCATTCATGACAAACGGAGAGCCTGAGGGGACTATAAATACCAAGGCCCACTCAGATACATACTGAGTCTTTGGGAACAGAGACAAAGCAGTAAACACTAAGGATCCCTGCTCTGCCAGTAATCTAACCATGTGACTCTGGGCAAGTTACTTCACTTTTCCATATCTGCACCTGTAAATGGAAGGGGGATTGAACTAGATGATTTCTGAAGTCCCTTCAGTTCTGACATTCTACCCTATACCCAAAGGCATTGTAAGATCATTAATGCCCCTCCCTCCCCTAACCTTACTTACCCTGAGACTTCTGGCAAGGGTGGGAGAGGAGGGAGCGGAATAAGGAGTGGCTCTCTGTGACTCCTGACAAGGTTCAGGCTTGCCAGTTTCCCAAGGTTTATGCTTTCTCCTTTAATCAAGAGACTCTGCCTCTTCCCTTCCTATATTTTTGCAACTCCATCTTTCTTCCACACCAAAATAAAGGAGGAATAAGAAAGCCGCACTCTTAAAAGAAGCCGATCCTTTACACTCTGTGGAATGCCAGCTGCTAATGTTGTGCCCTGTTCAAACAACAGTGCACTGGCAGTAGAGAGGTGGGGTATGGCGGGGCTACCCCTTTACTCCTCAGCTAGGTGCATCCTTGGCTTACTGTGGCCCATCCAAGGAGGGGGCTGTCCCACATGGTCGCTGCAATGAGGCAGTCATCTCATTGGTTCTCTGCTTCTTCCCTAAGCCTTTCGGCCTATTCTCCATATAGCATCTAGGGTGGTTTTAAAACCAAACTCAGGTCATATGAGTCCTTTGTTCAAAACCCACTCGTGGCTTCATAGCTCCTT
|
Task1_train_17541
|
A variant has been detected on Chromosome 12 in ARF3 (ARF GTPase 3). What is its effect — pathogenic or benign? If pathogenic, name the disease.
|
Pathogenic; Scoliosis
|
CCATCCCCACCCCCCAGTCAAGCTCCAGAGGAACAGATCTGAAGATGGTGGGGAAGGATCAGTTGAACACTCTAAGCTGATAAGAGTGAGTGGGTTCCTCTCTCCTTCCCAACAGTAAGGCAGAGCAGAGTGGCATCTCCTTGGGAACAGTCATCTAGAGATAAATGCCATCCTCCAGCCCTAAGAAGGGTGGAGAGAAGAGTACAAGGAAAATGGTGGTGAAGAATCCATCATCTGTCCTATCATCCAGAAAAACCTACCTGCAGAGAGGAGGGTAACCAGTCAAAGACTGGGGCAGTCCGGCTTGACTAATGCCCTCCCACCTTCTTCCCTTAATCTCACCAACACGGAAGGGGCAGATGACAGGCTCCAGTGGGCAGTGTCCTGGCTGCAAGCCCTGAGCTTCACTCCACCCCCTCCCCGCTCCCCCCGGCCCCCACAAATATATCTCTCTATACATGTATATACAGGCGCACACATGCACGCAAACACAGAGAGGCCCGTGCAATTTCCATGTAAAACAGGGAGAGGGTGGCAAAGGAAAGGCAAACAGGGAGTAGAAGGGCTTGTGGGGACAGGGAAAGGACTCAGATGCCAAGAGGACAGCAACCACTGCCAAACAAAGAGAATACCCCACTCGACCTCCCGAAACCCAGAGGGTGAGAGAGAGAGGGGCCACCCCATGAAACCGTAACAACTTTTTGTTTTAAATCCAGTAAATTGGAATGACTCATCATCAGGACAGCAATTAGGGATTGGTCATATAGGTGGACAGGAAAAAGGAGGGGAGGCAGGGGAGGCAAGGCTCTTGCTGGGCATGTGGACATGATACCCAGGGCCCTGGCCACACTTGCATGGAGAGGAAGGGGTAGGACTGGGGCAGGGTGACAGTAGGTATGTCAGGGGTGGGTGGGGTGCTTTGTTAGGGCTGTCTGGCTTTCACTTCTTGTTTTTGAGCTGATTGGCCAGCCAGTCCAGGCCTTCGTACAGCCCGTCCCCGCTGGTGGCACAGGTGGCCTGAATGTACCAGTTACGGTGACGAAGGGAATGCAGGCCCAGCTTGTCTGTGATCTCAGCAGCGTTCATAGCATTAGGCAGATCCTGGAGCACGTGGGAGACACATAAAAAGAAGCCTCAGGATTTTTTAAAGGCTTCTAGAACACCCATCTACCAAAGAAATGTGTACCAGCACCTTCCCCTCCTCCTTTATTTTAGGAAACCCAGAACAAGATCCTAAGGAGCTACTTTGGATTTAGTCACCTAGAACTCAAGATCCAAAGCACTAGAGGTCACTGTACTGAAGAATTGGAAACCAAATACGAGGATGGTGGGGAAGCAAGAGACGTGATTCAGACTGACCAAAGAATCAGGTCTGTCTGACAGCAGGAGTGAGGCCAATTCTCCTAAAGTAGATAACAGGCAAGATGAAAGAAAGATTTGAGACAATTCCTGAGGACTGAAATGTTGCTAAATAAAGCTTGGGGTGGGGCACAAGAAGAGGGGCATAAAGAAGCCAAGTGCTCAGTTTCCCACGCTTCTAACATTGAGAGCATACTAAAAGGGTTAACCATATAATAGGCCCAAGAGCCAACAATTTCCACAGCCAGTTTGCTGTCTCCCAAATTCAGGGGTGGGAAGAAGTCTCACCTGTTTGTTTGCAAAGACAAGGAGTACAGCATCCCGGAGCTCGTCCTCCGCCAGCATTCTCATCAGCTCTTCCCGGGCCTCATTTACTCGCTCCCGATCATTGCTGTCGACCACAAATATCAACCCTAGGAAGGCAGAGCATGGGCTGCACTAAGATGACAGGTAACCCCCTCCCCCCAACCAAAAGACCACACCTGCCTGACACCCTCCAAATATTTGCTCCCTTTCCTCCCTTTCTTCTGCCCCCAGGAGCTGCAGCAGGGTAACAGTTGGCCACCCATTAACAAAGACAGCCACACTCTCTGCTCATACCCAACCAACCCACGCTAGGCCTGAGCATACCTTGGGTGTTCTGGAAGTAGTGTCTCCAGAGGGGTCGAATCTTGTCCTGGCCACCCACATCCCACACTGTAAAGCTGATGTTCTTATACTCCACTGTCTCCACATTGAACCCTTTGGAAAAAAAACAGGCAATGGCCACTTGGCCTCAAACACTAGCCCCGCAAACACCACCACAATGAGTTTGGTTCTGCTTTCCCCCAGTGGTGGCCATAACACCAACAATGGAACAAAAGCTAAGGCTTCCTCAGACCTGATAATCGTTAAGCTAGCAGCCTGAAGGCCAAAATGAAAACCTAAGAGAAGTCAAAGAGGATGAGGAAGTTGGTTGAGAGGTTCACAGTTGCCTGGGTAACGTGGGCCAACTTTCCTGACTTTTCCACTCAGTCTTTGGTGCTCCCTCCTACAAAATGACTCAGCCCTGCTCTGGTACTTTGGCTACCAGAGTCGGCCTCAGCTAAGATGTGGGGCCTGAGAGGCAGAGTGAAGAAAGGGAAGTAAGCTGGCATCCTGGAGCCCCAAAGGCAGAGCCAGCTGACAATGCTGACTGGAGCCCCCATCTACATAGCAAATGTAGGGAGACCTCCCTTCAGCAAACTGTAACCAAGATTGGCCACCAAAGATCTAAACCCAAGTAATTCCAAGCCTTTGGCAGGAACATCAAAGCCTTTTACCTGCTTTCCAAACAACACAGAGAAGAAACCAACTCCGTGCCTGAGGGCAGCTGTTGAGTGCCAGGCCATGGAAGTTCCCGCATCAGGGAGAGCCAGGTTAGGTGGGCAAACAGCAGCCTCAGCACCTGGTAGTAAGCTAAACAACACCACCCTCTTTTCTGAACCCCACAAATTGTATGGACTTGCCTGGGGAGAAGAGGCCAGGTTGGGGAACCAGGAATAGGTCCCTGCCCTGCCTCAGCTGCCGGCGTGAAAGCCCACATCCAAGCTGTGCTCTTACCAATGGTAGGGATGGTGGTGACGATCTCCCCGAGTTTCAGCTTGTATAGGATGGTGGTCTTTCCTGCGGCATCCAGGCCCACCATCAGGATGCGCATCTCCTTCTTCCCAATCAGGCTCTTGAGAAGGTTTCCAAAGATATTGCCCATGATCACAGCAGCTGCTTTCTGGGGACAGTGGGGCCCAAGTAGGGGCAGTGGCAGTCTGGTTTTGGCCTGGTCCCTGGTATGGAAGACTTGATCCTAGACAAAGGAAATGTAAAATCATACCATCATTTGCTTGTCAGGACTTCCAAGTAAATAGAATTTCCCAAGGTCATGGCTAGAGTTCATTCATGACAAACGGAGAGCCTGAGGGGACTATAAATACCAAGGCCCACTCAGATACATACTGAGTCTTTGGGAACAGAGACAAAGCAGTAAACACTAAGGATCCCTGCTCTGCCAGTAATCTAACCATGTGACTCTGGGCAAGTTACTTCACTTTTCCATATCTGCACCTGTAAATGGAAGGGGGATTGAACTAGATGATTTCTGAAGTCCCTTCAGTTCTGACATTCTACCCTATACCCAAAGGCATTGTAAGATCATTAATGCCCCTCCCTCCCCTAACCTTACTTACCCTGAGACTTCTGGCAAGGGTGGGAGAGGAGGGAGCGGAATAAGGAGTGGCTCTCTGTGACTCCTGACAAGGTTCAGGCTTGCCAGTTTCCCAAGGTTTATGCTTTCTCCTTTAATCAAGAGACTCTGCCTCTTCCCTTCCTATATTTTTGCAACTCCATCTTTCTTCCACACCAAAATAAAGGAGGAATAAGAAAGCCGCACTCTTAAAAGAAGCCGATCCTTTACACTCTGTGGAATGCCAGCTGCTAATGTTGTGCCCTGTTCAAACAACAGTGCACTGGCAGTAGAGAGGTGGGGTATGGCGGGGCTACCCCTTTACTCCTCAGCTAGGTGCATCCTTGGCTTACTGTGGCCCATCCAAGGAGGGGGCTGTCCCACATGGTCGCTGCAATGAGGCAGTCATCTCATTGGTTCTCTGCTTCTTCCCTAAGCCTTTCGGCCTATTCTCCATATAGCATCTAGGGTGGTTTTAAAACCAAACTCAGGTCATATGAGTCCTTTGTTCAAAACCCACTCGTGGCTTCATAGCTCCTT
|
CCATCCCCACCCCCCAGTCAAGCTCCAGAGGAACAGATCTGAAGATGGTGGGGAAGGATCAGTTGAACACTCTAAGCTGATAAGAGTGAGTGGGTTCCTCTCTCCTTCCCAACAGTAAGGCAGAGCAGAGTGGCATCTCCTTGGGAACAGTCATCTAGAGATAAATGCCATCCTCCAGCCCTAAGAAGGGTGGAGAGAAGAGTACAAGGAAAATGGTGGTGAAGAATCCATCATCTGTCCTATCATCCAGAAAAACCTACCTGCAGAGAGGAGGGTAACCAGTCAAAGACTGGGGCAGTCCGGCTTGACTAATGCCCTCCCACCTTCTTCCCTTAATCTCACCAACACGGAAGGGGCAGATGACAGGCTCCAGTGGGCAGTGTCCTGGCTGCAAGCCCTGAGCTTCACTCCACCCCCTCCCCGCTCCCCCCGGCCCCCACAAATATATCTCTCTATACATGTATATACAGGCGCACACATGCACGCAAACACAGAGAGGCCCGTGCAATTTCCATGTAAAACAGGGAGAGGGTGGCAAAGGAAAGGCAAACAGGGAGTAGAAGGGCTTGTGGGGACAGGGAAAGGACTCAGATGCCAAGAGGACAGCAACCACTGCCAAACAAAGAGAATACCCCACTCGACCTCCCGAAACCCAGAGGGTGAGAGAGAGAGGGGCCACCCCATGAAACCGTAACAACTTTTTGTTTTAAATCCAGTAAATTGGAATGACTCATCATCAGGACAGCAATTAGGGATTGGTCATATAGGTGGACAGGAAAAAGGAGGGGAGGCAGGGGAGGCAAGGCTCTTGCTGGGCATGTGGACATGATACCCAGGGCCCTGGCCACACTTGCATGGAGAGGAAGGGGTAGGACTGGGGCAGGGTGACAGTAGGTATGTCAGGGGTGGGTGGGGTGCTTTGTTAGGGCTGTCTGGCTTTCACTTCTTGTTTTTGAGCTGATTGGCCAGCCAGTCCAGGCCTTCGTACAGCCCGTCCCCGCTGGTGGCACAGGTGGCCTGAATGTACCAGTTACGGTGACGAAGGGAATGCAGGCCCAGCTTGTCTGTGATCTCAGCAGCGTTCATAGCATTAGGCAGATCCTGGAGCACGTGGGAGACACATAAAAAGAAGCCTCAGGATTTTTTAAAGGCTTCTAGAACACCCATCTACCAAAGAAATGTGTACCAGCACCTTCCCCTCCTCCTTTATTTTAGGAAACCCAGAACAAGATCCTAAGGAGCTACTTTGGATTTAGTCACCTAGAACTCAAGATCCAAAGCACTAGAGGTCACTGTACTGAAGAATTGGAAACCAAATACGAGGATGGTGGGGAAGCAAGAGACGTGATTCAGACTGACCAAAGAATCAGGTCTGTCTGACAGCAGGAGTGAGGCCAATTCTCCTAAAGTAGATAACAGGCAAGATGAAAGAAAGATTTGAGACAATTCCTGAGGACTGAAATGTTGCTAAATAAAGCTTGGGGTGGGGCACAAGAAGAGGGGCATAAAGAAGCCAAGTGCTCAGTTTCCCACGCTTCTAACATTGAGAGCATACTAAAAGGGTTAACCATATAATAGGCCCAAGAGCCAACAATTTCCACAGCCAGTTTGCTGTCTCCCAAATTCAGGGGTGGGAAGAAGTCTCACCTGTTTGTTTGCAAAGACAAGGAGTACAGCATCCCGGAGCTCGTCCTCCGCCAGCATTCTCATCAGCTCTTCCCGGGCCTCATTTACTCGCTCCCGATCATTGCTGTCGACCACAAATATCAACCCTAGGAAGGCAGAGCATGGGCTGCACTAAGATGACAGGTAACCCCCTCCCCCCAACCAAAAGACCACACCTGCCTGACACCCTCCAAATATTTGCTCCCTTTCCTCCCTTTCTTCTGCCCCCAGGAGCTGCAGCAGGGTAACAGTTGGCCACCCATTAACAAAGACAGCCACACTCTCTGCTCATACCCAACCAACCCACGCTAGGCCTGAGCATACCTTGGGTGTTCTGGAAGTAGTGTCTCCAGAGGGGTCGAATCTTGTCCTGGCCACCCACAACCCACACTGTAAAGCTGATGTTCTTATACTCCACTGTCTCCACATTGAACCCTTTGGAAAAAAAACAGGCAATGGCCACTTGGCCTCAAACACTAGCCCCGCAAACACCACCACAATGAGTTTGGTTCTGCTTTCCCCCAGTGGTGGCCATAACACCAACAATGGAACAAAAGCTAAGGCTTCCTCAGACCTGATAATCGTTAAGCTAGCAGCCTGAAGGCCAAAATGAAAACCTAAGAGAAGTCAAAGAGGATGAGGAAGTTGGTTGAGAGGTTCACAGTTGCCTGGGTAACGTGGGCCAACTTTCCTGACTTTTCCACTCAGTCTTTGGTGCTCCCTCCTACAAAATGACTCAGCCCTGCTCTGGTACTTTGGCTACCAGAGTCGGCCTCAGCTAAGATGTGGGGCCTGAGAGGCAGAGTGAAGAAAGGGAAGTAAGCTGGCATCCTGGAGCCCCAAAGGCAGAGCCAGCTGACAATGCTGACTGGAGCCCCCATCTACATAGCAAATGTAGGGAGACCTCCCTTCAGCAAACTGTAACCAAGATTGGCCACCAAAGATCTAAACCCAAGTAATTCCAAGCCTTTGGCAGGAACATCAAAGCCTTTTACCTGCTTTCCAAACAACACAGAGAAGAAACCAACTCCGTGCCTGAGGGCAGCTGTTGAGTGCCAGGCCATGGAAGTTCCCGCATCAGGGAGAGCCAGGTTAGGTGGGCAAACAGCAGCCTCAGCACCTGGTAGTAAGCTAAACAACACCACCCTCTTTTCTGAACCCCACAAATTGTATGGACTTGCCTGGGGAGAAGAGGCCAGGTTGGGGAACCAGGAATAGGTCCCTGCCCTGCCTCAGCTGCCGGCGTGAAAGCCCACATCCAAGCTGTGCTCTTACCAATGGTAGGGATGGTGGTGACGATCTCCCCGAGTTTCAGCTTGTATAGGATGGTGGTCTTTCCTGCGGCATCCAGGCCCACCATCAGGATGCGCATCTCCTTCTTCCCAATCAGGCTCTTGAGAAGGTTTCCAAAGATATTGCCCATGATCACAGCAGCTGCTTTCTGGGGACAGTGGGGCCCAAGTAGGGGCAGTGGCAGTCTGGTTTTGGCCTGGTCCCTGGTATGGAAGACTTGATCCTAGACAAAGGAAATGTAAAATCATACCATCATTTGCTTGTCAGGACTTCCAAGTAAATAGAATTTCCCAAGGTCATGGCTAGAGTTCATTCATGACAAACGGAGAGCCTGAGGGGACTATAAATACCAAGGCCCACTCAGATACATACTGAGTCTTTGGGAACAGAGACAAAGCAGTAAACACTAAGGATCCCTGCTCTGCCAGTAATCTAACCATGTGACTCTGGGCAAGTTACTTCACTTTTCCATATCTGCACCTGTAAATGGAAGGGGGATTGAACTAGATGATTTCTGAAGTCCCTTCAGTTCTGACATTCTACCCTATACCCAAAGGCATTGTAAGATCATTAATGCCCCTCCCTCCCCTAACCTTACTTACCCTGAGACTTCTGGCAAGGGTGGGAGAGGAGGGAGCGGAATAAGGAGTGGCTCTCTGTGACTCCTGACAAGGTTCAGGCTTGCCAGTTTCCCAAGGTTTATGCTTTCTCCTTTAATCAAGAGACTCTGCCTCTTCCCTTCCTATATTTTTGCAACTCCATCTTTCTTCCACACCAAAATAAAGGAGGAATAAGAAAGCCGCACTCTTAAAAGAAGCCGATCCTTTACACTCTGTGGAATGCCAGCTGCTAATGTTGTGCCCTGTTCAAACAACAGTGCACTGGCAGTAGAGAGGTGGGGTATGGCGGGGCTACCCCTTTACTCCTCAGCTAGGTGCATCCTTGGCTTACTGTGGCCCATCCAAGGAGGGGGCTGTCCCACATGGTCGCTGCAATGAGGCAGTCATCTCATTGGTTCTCTGCTTCTTCCCTAAGCCTTTCGGCCTATTCTCCATATAGCATCTAGGGTGGTTTTAAAACCAAACTCAGGTCATATGAGTCCTTTGTTCAAAACCCACTCGTGGCTTCATAGCTCCTT
|
Task1_train_17542
|
A variant found in Chromosome 12 affects ARF3 (ARF GTPase 3). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
|
Pathogenic; Microcephaly
|
CCATCCCCACCCCCCAGTCAAGCTCCAGAGGAACAGATCTGAAGATGGTGGGGAAGGATCAGTTGAACACTCTAAGCTGATAAGAGTGAGTGGGTTCCTCTCTCCTTCCCAACAGTAAGGCAGAGCAGAGTGGCATCTCCTTGGGAACAGTCATCTAGAGATAAATGCCATCCTCCAGCCCTAAGAAGGGTGGAGAGAAGAGTACAAGGAAAATGGTGGTGAAGAATCCATCATCTGTCCTATCATCCAGAAAAACCTACCTGCAGAGAGGAGGGTAACCAGTCAAAGACTGGGGCAGTCCGGCTTGACTAATGCCCTCCCACCTTCTTCCCTTAATCTCACCAACACGGAAGGGGCAGATGACAGGCTCCAGTGGGCAGTGTCCTGGCTGCAAGCCCTGAGCTTCACTCCACCCCCTCCCCGCTCCCCCCGGCCCCCACAAATATATCTCTCTATACATGTATATACAGGCGCACACATGCACGCAAACACAGAGAGGCCCGTGCAATTTCCATGTAAAACAGGGAGAGGGTGGCAAAGGAAAGGCAAACAGGGAGTAGAAGGGCTTGTGGGGACAGGGAAAGGACTCAGATGCCAAGAGGACAGCAACCACTGCCAAACAAAGAGAATACCCCACTCGACCTCCCGAAACCCAGAGGGTGAGAGAGAGAGGGGCCACCCCATGAAACCGTAACAACTTTTTGTTTTAAATCCAGTAAATTGGAATGACTCATCATCAGGACAGCAATTAGGGATTGGTCATATAGGTGGACAGGAAAAAGGAGGGGAGGCAGGGGAGGCAAGGCTCTTGCTGGGCATGTGGACATGATACCCAGGGCCCTGGCCACACTTGCATGGAGAGGAAGGGGTAGGACTGGGGCAGGGTGACAGTAGGTATGTCAGGGGTGGGTGGGGTGCTTTGTTAGGGCTGTCTGGCTTTCACTTCTTGTTTTTGAGCTGATTGGCCAGCCAGTCCAGGCCTTCGTACAGCCCGTCCCCGCTGGTGGCACAGGTGGCCTGAATGTACCAGTTACGGTGACGAAGGGAATGCAGGCCCAGCTTGTCTGTGATCTCAGCAGCGTTCATAGCATTAGGCAGATCCTGGAGCACGTGGGAGACACATAAAAAGAAGCCTCAGGATTTTTTAAAGGCTTCTAGAACACCCATCTACCAAAGAAATGTGTACCAGCACCTTCCCCTCCTCCTTTATTTTAGGAAACCCAGAACAAGATCCTAAGGAGCTACTTTGGATTTAGTCACCTAGAACTCAAGATCCAAAGCACTAGAGGTCACTGTACTGAAGAATTGGAAACCAAATACGAGGATGGTGGGGAAGCAAGAGACGTGATTCAGACTGACCAAAGAATCAGGTCTGTCTGACAGCAGGAGTGAGGCCAATTCTCCTAAAGTAGATAACAGGCAAGATGAAAGAAAGATTTGAGACAATTCCTGAGGACTGAAATGTTGCTAAATAAAGCTTGGGGTGGGGCACAAGAAGAGGGGCATAAAGAAGCCAAGTGCTCAGTTTCCCACGCTTCTAACATTGAGAGCATACTAAAAGGGTTAACCATATAATAGGCCCAAGAGCCAACAATTTCCACAGCCAGTTTGCTGTCTCCCAAATTCAGGGGTGGGAAGAAGTCTCACCTGTTTGTTTGCAAAGACAAGGAGTACAGCATCCCGGAGCTCGTCCTCCGCCAGCATTCTCATCAGCTCTTCCCGGGCCTCATTTACTCGCTCCCGATCATTGCTGTCGACCACAAATATCAACCCTAGGAAGGCAGAGCATGGGCTGCACTAAGATGACAGGTAACCCCCTCCCCCCAACCAAAAGACCACACCTGCCTGACACCCTCCAAATATTTGCTCCCTTTCCTCCCTTTCTTCTGCCCCCAGGAGCTGCAGCAGGGTAACAGTTGGCCACCCATTAACAAAGACAGCCACACTCTCTGCTCATACCCAACCAACCCACGCTAGGCCTGAGCATACCTTGGGTGTTCTGGAAGTAGTGTCTCCAGAGGGGTCGAATCTTGTCCTGGCCACCCACATCCCACACTGTAAAGCTGATGTTCTTATACTCCACTGTCTCCACATTGAACCCTTTGGAAAAAAAACAGGCAATGGCCACTTGGCCTCAAACACTAGCCCCGCAAACACCACCACAATGAGTTTGGTTCTGCTTTCCCCCAGTGGTGGCCATAACACCAACAATGGAACAAAAGCTAAGGCTTCCTCAGACCTGATAATCGTTAAGCTAGCAGCCTGAAGGCCAAAATGAAAACCTAAGAGAAGTCAAAGAGGATGAGGAAGTTGGTTGAGAGGTTCACAGTTGCCTGGGTAACGTGGGCCAACTTTCCTGACTTTTCCACTCAGTCTTTGGTGCTCCCTCCTACAAAATGACTCAGCCCTGCTCTGGTACTTTGGCTACCAGAGTCGGCCTCAGCTAAGATGTGGGGCCTGAGAGGCAGAGTGAAGAAAGGGAAGTAAGCTGGCATCCTGGAGCCCCAAAGGCAGAGCCAGCTGACAATGCTGACTGGAGCCCCCATCTACATAGCAAATGTAGGGAGACCTCCCTTCAGCAAACTGTAACCAAGATTGGCCACCAAAGATCTAAACCCAAGTAATTCCAAGCCTTTGGCAGGAACATCAAAGCCTTTTACCTGCTTTCCAAACAACACAGAGAAGAAACCAACTCCGTGCCTGAGGGCAGCTGTTGAGTGCCAGGCCATGGAAGTTCCCGCATCAGGGAGAGCCAGGTTAGGTGGGCAAACAGCAGCCTCAGCACCTGGTAGTAAGCTAAACAACACCACCCTCTTTTCTGAACCCCACAAATTGTATGGACTTGCCTGGGGAGAAGAGGCCAGGTTGGGGAACCAGGAATAGGTCCCTGCCCTGCCTCAGCTGCCGGCGTGAAAGCCCACATCCAAGCTGTGCTCTTACCAATGGTAGGGATGGTGGTGACGATCTCCCCGAGTTTCAGCTTGTATAGGATGGTGGTCTTTCCTGCGGCATCCAGGCCCACCATCAGGATGCGCATCTCCTTCTTCCCAATCAGGCTCTTGAGAAGGTTTCCAAAGATATTGCCCATGATCACAGCAGCTGCTTTCTGGGGACAGTGGGGCCCAAGTAGGGGCAGTGGCAGTCTGGTTTTGGCCTGGTCCCTGGTATGGAAGACTTGATCCTAGACAAAGGAAATGTAAAATCATACCATCATTTGCTTGTCAGGACTTCCAAGTAAATAGAATTTCCCAAGGTCATGGCTAGAGTTCATTCATGACAAACGGAGAGCCTGAGGGGACTATAAATACCAAGGCCCACTCAGATACATACTGAGTCTTTGGGAACAGAGACAAAGCAGTAAACACTAAGGATCCCTGCTCTGCCAGTAATCTAACCATGTGACTCTGGGCAAGTTACTTCACTTTTCCATATCTGCACCTGTAAATGGAAGGGGGATTGAACTAGATGATTTCTGAAGTCCCTTCAGTTCTGACATTCTACCCTATACCCAAAGGCATTGTAAGATCATTAATGCCCCTCCCTCCCCTAACCTTACTTACCCTGAGACTTCTGGCAAGGGTGGGAGAGGAGGGAGCGGAATAAGGAGTGGCTCTCTGTGACTCCTGACAAGGTTCAGGCTTGCCAGTTTCCCAAGGTTTATGCTTTCTCCTTTAATCAAGAGACTCTGCCTCTTCCCTTCCTATATTTTTGCAACTCCATCTTTCTTCCACACCAAAATAAAGGAGGAATAAGAAAGCCGCACTCTTAAAAGAAGCCGATCCTTTACACTCTGTGGAATGCCAGCTGCTAATGTTGTGCCCTGTTCAAACAACAGTGCACTGGCAGTAGAGAGGTGGGGTATGGCGGGGCTACCCCTTTACTCCTCAGCTAGGTGCATCCTTGGCTTACTGTGGCCCATCCAAGGAGGGGGCTGTCCCACATGGTCGCTGCAATGAGGCAGTCATCTCATTGGTTCTCTGCTTCTTCCCTAAGCCTTTCGGCCTATTCTCCATATAGCATCTAGGGTGGTTTTAAAACCAAACTCAGGTCATATGAGTCCTTTGTTCAAAACCCACTCGTGGCTTCATAGCTCCTT
|
CCATCCCCACCCCCCAGTCAAGCTCCAGAGGAACAGATCTGAAGATGGTGGGGAAGGATCAGTTGAACACTCTAAGCTGATAAGAGTGAGTGGGTTCCTCTCTCCTTCCCAACAGTAAGGCAGAGCAGAGTGGCATCTCCTTGGGAACAGTCATCTAGAGATAAATGCCATCCTCCAGCCCTAAGAAGGGTGGAGAGAAGAGTACAAGGAAAATGGTGGTGAAGAATCCATCATCTGTCCTATCATCCAGAAAAACCTACCTGCAGAGAGGAGGGTAACCAGTCAAAGACTGGGGCAGTCCGGCTTGACTAATGCCCTCCCACCTTCTTCCCTTAATCTCACCAACACGGAAGGGGCAGATGACAGGCTCCAGTGGGCAGTGTCCTGGCTGCAAGCCCTGAGCTTCACTCCACCCCCTCCCCGCTCCCCCCGGCCCCCACAAATATATCTCTCTATACATGTATATACAGGCGCACACATGCACGCAAACACAGAGAGGCCCGTGCAATTTCCATGTAAAACAGGGAGAGGGTGGCAAAGGAAAGGCAAACAGGGAGTAGAAGGGCTTGTGGGGACAGGGAAAGGACTCAGATGCCAAGAGGACAGCAACCACTGCCAAACAAAGAGAATACCCCACTCGACCTCCCGAAACCCAGAGGGTGAGAGAGAGAGGGGCCACCCCATGAAACCGTAACAACTTTTTGTTTTAAATCCAGTAAATTGGAATGACTCATCATCAGGACAGCAATTAGGGATTGGTCATATAGGTGGACAGGAAAAAGGAGGGGAGGCAGGGGAGGCAAGGCTCTTGCTGGGCATGTGGACATGATACCCAGGGCCCTGGCCACACTTGCATGGAGAGGAAGGGGTAGGACTGGGGCAGGGTGACAGTAGGTATGTCAGGGGTGGGTGGGGTGCTTTGTTAGGGCTGTCTGGCTTTCACTTCTTGTTTTTGAGCTGATTGGCCAGCCAGTCCAGGCCTTCGTACAGCCCGTCCCCGCTGGTGGCACAGGTGGCCTGAATGTACCAGTTACGGTGACGAAGGGAATGCAGGCCCAGCTTGTCTGTGATCTCAGCAGCGTTCATAGCATTAGGCAGATCCTGGAGCACGTGGGAGACACATAAAAAGAAGCCTCAGGATTTTTTAAAGGCTTCTAGAACACCCATCTACCAAAGAAATGTGTACCAGCACCTTCCCCTCCTCCTTTATTTTAGGAAACCCAGAACAAGATCCTAAGGAGCTACTTTGGATTTAGTCACCTAGAACTCAAGATCCAAAGCACTAGAGGTCACTGTACTGAAGAATTGGAAACCAAATACGAGGATGGTGGGGAAGCAAGAGACGTGATTCAGACTGACCAAAGAATCAGGTCTGTCTGACAGCAGGAGTGAGGCCAATTCTCCTAAAGTAGATAACAGGCAAGATGAAAGAAAGATTTGAGACAATTCCTGAGGACTGAAATGTTGCTAAATAAAGCTTGGGGTGGGGCACAAGAAGAGGGGCATAAAGAAGCCAAGTGCTCAGTTTCCCACGCTTCTAACATTGAGAGCATACTAAAAGGGTTAACCATATAATAGGCCCAAGAGCCAACAATTTCCACAGCCAGTTTGCTGTCTCCCAAATTCAGGGGTGGGAAGAAGTCTCACCTGTTTGTTTGCAAAGACAAGGAGTACAGCATCCCGGAGCTCGTCCTCCGCCAGCATTCTCATCAGCTCTTCCCGGGCCTCATTTACTCGCTCCCGATCATTGCTGTCGACCACAAATATCAACCCTAGGAAGGCAGAGCATGGGCTGCACTAAGATGACAGGTAACCCCCTCCCCCCAACCAAAAGACCACACCTGCCTGACACCCTCCAAATATTTGCTCCCTTTCCTCCCTTTCTTCTGCCCCCAGGAGCTGCAGCAGGGTAACAGTTGGCCACCCATTAACAAAGACAGCCACACTCTCTGCTCATACCCAACCAACCCACGCTAGGCCTGAGCATACCTTGGGTGTTCTGGAAGTAGTGTCTCCAGAGGGGTCGAATCTTGTCCTGGCCACCCACAACCCACACTGTAAAGCTGATGTTCTTATACTCCACTGTCTCCACATTGAACCCTTTGGAAAAAAAACAGGCAATGGCCACTTGGCCTCAAACACTAGCCCCGCAAACACCACCACAATGAGTTTGGTTCTGCTTTCCCCCAGTGGTGGCCATAACACCAACAATGGAACAAAAGCTAAGGCTTCCTCAGACCTGATAATCGTTAAGCTAGCAGCCTGAAGGCCAAAATGAAAACCTAAGAGAAGTCAAAGAGGATGAGGAAGTTGGTTGAGAGGTTCACAGTTGCCTGGGTAACGTGGGCCAACTTTCCTGACTTTTCCACTCAGTCTTTGGTGCTCCCTCCTACAAAATGACTCAGCCCTGCTCTGGTACTTTGGCTACCAGAGTCGGCCTCAGCTAAGATGTGGGGCCTGAGAGGCAGAGTGAAGAAAGGGAAGTAAGCTGGCATCCTGGAGCCCCAAAGGCAGAGCCAGCTGACAATGCTGACTGGAGCCCCCATCTACATAGCAAATGTAGGGAGACCTCCCTTCAGCAAACTGTAACCAAGATTGGCCACCAAAGATCTAAACCCAAGTAATTCCAAGCCTTTGGCAGGAACATCAAAGCCTTTTACCTGCTTTCCAAACAACACAGAGAAGAAACCAACTCCGTGCCTGAGGGCAGCTGTTGAGTGCCAGGCCATGGAAGTTCCCGCATCAGGGAGAGCCAGGTTAGGTGGGCAAACAGCAGCCTCAGCACCTGGTAGTAAGCTAAACAACACCACCCTCTTTTCTGAACCCCACAAATTGTATGGACTTGCCTGGGGAGAAGAGGCCAGGTTGGGGAACCAGGAATAGGTCCCTGCCCTGCCTCAGCTGCCGGCGTGAAAGCCCACATCCAAGCTGTGCTCTTACCAATGGTAGGGATGGTGGTGACGATCTCCCCGAGTTTCAGCTTGTATAGGATGGTGGTCTTTCCTGCGGCATCCAGGCCCACCATCAGGATGCGCATCTCCTTCTTCCCAATCAGGCTCTTGAGAAGGTTTCCAAAGATATTGCCCATGATCACAGCAGCTGCTTTCTGGGGACAGTGGGGCCCAAGTAGGGGCAGTGGCAGTCTGGTTTTGGCCTGGTCCCTGGTATGGAAGACTTGATCCTAGACAAAGGAAATGTAAAATCATACCATCATTTGCTTGTCAGGACTTCCAAGTAAATAGAATTTCCCAAGGTCATGGCTAGAGTTCATTCATGACAAACGGAGAGCCTGAGGGGACTATAAATACCAAGGCCCACTCAGATACATACTGAGTCTTTGGGAACAGAGACAAAGCAGTAAACACTAAGGATCCCTGCTCTGCCAGTAATCTAACCATGTGACTCTGGGCAAGTTACTTCACTTTTCCATATCTGCACCTGTAAATGGAAGGGGGATTGAACTAGATGATTTCTGAAGTCCCTTCAGTTCTGACATTCTACCCTATACCCAAAGGCATTGTAAGATCATTAATGCCCCTCCCTCCCCTAACCTTACTTACCCTGAGACTTCTGGCAAGGGTGGGAGAGGAGGGAGCGGAATAAGGAGTGGCTCTCTGTGACTCCTGACAAGGTTCAGGCTTGCCAGTTTCCCAAGGTTTATGCTTTCTCCTTTAATCAAGAGACTCTGCCTCTTCCCTTCCTATATTTTTGCAACTCCATCTTTCTTCCACACCAAAATAAAGGAGGAATAAGAAAGCCGCACTCTTAAAAGAAGCCGATCCTTTACACTCTGTGGAATGCCAGCTGCTAATGTTGTGCCCTGTTCAAACAACAGTGCACTGGCAGTAGAGAGGTGGGGTATGGCGGGGCTACCCCTTTACTCCTCAGCTAGGTGCATCCTTGGCTTACTGTGGCCCATCCAAGGAGGGGGCTGTCCCACATGGTCGCTGCAATGAGGCAGTCATCTCATTGGTTCTCTGCTTCTTCCCTAAGCCTTTCGGCCTATTCTCCATATAGCATCTAGGGTGGTTTTAAAACCAAACTCAGGTCATATGAGTCCTTTGTTCAAAACCCACTCGTGGCTTCATAGCTCCTT
|
Task1_train_17543
|
The gene ARF3 (ARF GTPase 3) is located on Chromosome 12, where a mutation has occurred. What is the medical relevance of this mutation?
|
Pathogenic; Intellectual disability
|
CCATCCCCACCCCCCAGTCAAGCTCCAGAGGAACAGATCTGAAGATGGTGGGGAAGGATCAGTTGAACACTCTAAGCTGATAAGAGTGAGTGGGTTCCTCTCTCCTTCCCAACAGTAAGGCAGAGCAGAGTGGCATCTCCTTGGGAACAGTCATCTAGAGATAAATGCCATCCTCCAGCCCTAAGAAGGGTGGAGAGAAGAGTACAAGGAAAATGGTGGTGAAGAATCCATCATCTGTCCTATCATCCAGAAAAACCTACCTGCAGAGAGGAGGGTAACCAGTCAAAGACTGGGGCAGTCCGGCTTGACTAATGCCCTCCCACCTTCTTCCCTTAATCTCACCAACACGGAAGGGGCAGATGACAGGCTCCAGTGGGCAGTGTCCTGGCTGCAAGCCCTGAGCTTCACTCCACCCCCTCCCCGCTCCCCCCGGCCCCCACAAATATATCTCTCTATACATGTATATACAGGCGCACACATGCACGCAAACACAGAGAGGCCCGTGCAATTTCCATGTAAAACAGGGAGAGGGTGGCAAAGGAAAGGCAAACAGGGAGTAGAAGGGCTTGTGGGGACAGGGAAAGGACTCAGATGCCAAGAGGACAGCAACCACTGCCAAACAAAGAGAATACCCCACTCGACCTCCCGAAACCCAGAGGGTGAGAGAGAGAGGGGCCACCCCATGAAACCGTAACAACTTTTTGTTTTAAATCCAGTAAATTGGAATGACTCATCATCAGGACAGCAATTAGGGATTGGTCATATAGGTGGACAGGAAAAAGGAGGGGAGGCAGGGGAGGCAAGGCTCTTGCTGGGCATGTGGACATGATACCCAGGGCCCTGGCCACACTTGCATGGAGAGGAAGGGGTAGGACTGGGGCAGGGTGACAGTAGGTATGTCAGGGGTGGGTGGGGTGCTTTGTTAGGGCTGTCTGGCTTTCACTTCTTGTTTTTGAGCTGATTGGCCAGCCAGTCCAGGCCTTCGTACAGCCCGTCCCCGCTGGTGGCACAGGTGGCCTGAATGTACCAGTTACGGTGACGAAGGGAATGCAGGCCCAGCTTGTCTGTGATCTCAGCAGCGTTCATAGCATTAGGCAGATCCTGGAGCACGTGGGAGACACATAAAAAGAAGCCTCAGGATTTTTTAAAGGCTTCTAGAACACCCATCTACCAAAGAAATGTGTACCAGCACCTTCCCCTCCTCCTTTATTTTAGGAAACCCAGAACAAGATCCTAAGGAGCTACTTTGGATTTAGTCACCTAGAACTCAAGATCCAAAGCACTAGAGGTCACTGTACTGAAGAATTGGAAACCAAATACGAGGATGGTGGGGAAGCAAGAGACGTGATTCAGACTGACCAAAGAATCAGGTCTGTCTGACAGCAGGAGTGAGGCCAATTCTCCTAAAGTAGATAACAGGCAAGATGAAAGAAAGATTTGAGACAATTCCTGAGGACTGAAATGTTGCTAAATAAAGCTTGGGGTGGGGCACAAGAAGAGGGGCATAAAGAAGCCAAGTGCTCAGTTTCCCACGCTTCTAACATTGAGAGCATACTAAAAGGGTTAACCATATAATAGGCCCAAGAGCCAACAATTTCCACAGCCAGTTTGCTGTCTCCCAAATTCAGGGGTGGGAAGAAGTCTCACCTGTTTGTTTGCAAAGACAAGGAGTACAGCATCCCGGAGCTCGTCCTCCGCCAGCATTCTCATCAGCTCTTCCCGGGCCTCATTTACTCGCTCCCGATCATTGCTGTCGACCACAAATATCAACCCTAGGAAGGCAGAGCATGGGCTGCACTAAGATGACAGGTAACCCCCTCCCCCCAACCAAAAGACCACACCTGCCTGACACCCTCCAAATATTTGCTCCCTTTCCTCCCTTTCTTCTGCCCCCAGGAGCTGCAGCAGGGTAACAGTTGGCCACCCATTAACAAAGACAGCCACACTCTCTGCTCATACCCAACCAACCCACGCTAGGCCTGAGCATACCTTGGGTGTTCTGGAAGTAGTGTCTCCAGAGGGGTCGAATCTTGTCCTGGCCACCCACATCCCACACTGTAAAGCTGATGTTCTTATACTCCACTGTCTCCACATTGAACCCTTTGGAAAAAAAACAGGCAATGGCCACTTGGCCTCAAACACTAGCCCCGCAAACACCACCACAATGAGTTTGGTTCTGCTTTCCCCCAGTGGTGGCCATAACACCAACAATGGAACAAAAGCTAAGGCTTCCTCAGACCTGATAATCGTTAAGCTAGCAGCCTGAAGGCCAAAATGAAAACCTAAGAGAAGTCAAAGAGGATGAGGAAGTTGGTTGAGAGGTTCACAGTTGCCTGGGTAACGTGGGCCAACTTTCCTGACTTTTCCACTCAGTCTTTGGTGCTCCCTCCTACAAAATGACTCAGCCCTGCTCTGGTACTTTGGCTACCAGAGTCGGCCTCAGCTAAGATGTGGGGCCTGAGAGGCAGAGTGAAGAAAGGGAAGTAAGCTGGCATCCTGGAGCCCCAAAGGCAGAGCCAGCTGACAATGCTGACTGGAGCCCCCATCTACATAGCAAATGTAGGGAGACCTCCCTTCAGCAAACTGTAACCAAGATTGGCCACCAAAGATCTAAACCCAAGTAATTCCAAGCCTTTGGCAGGAACATCAAAGCCTTTTACCTGCTTTCCAAACAACACAGAGAAGAAACCAACTCCGTGCCTGAGGGCAGCTGTTGAGTGCCAGGCCATGGAAGTTCCCGCATCAGGGAGAGCCAGGTTAGGTGGGCAAACAGCAGCCTCAGCACCTGGTAGTAAGCTAAACAACACCACCCTCTTTTCTGAACCCCACAAATTGTATGGACTTGCCTGGGGAGAAGAGGCCAGGTTGGGGAACCAGGAATAGGTCCCTGCCCTGCCTCAGCTGCCGGCGTGAAAGCCCACATCCAAGCTGTGCTCTTACCAATGGTAGGGATGGTGGTGACGATCTCCCCGAGTTTCAGCTTGTATAGGATGGTGGTCTTTCCTGCGGCATCCAGGCCCACCATCAGGATGCGCATCTCCTTCTTCCCAATCAGGCTCTTGAGAAGGTTTCCAAAGATATTGCCCATGATCACAGCAGCTGCTTTCTGGGGACAGTGGGGCCCAAGTAGGGGCAGTGGCAGTCTGGTTTTGGCCTGGTCCCTGGTATGGAAGACTTGATCCTAGACAAAGGAAATGTAAAATCATACCATCATTTGCTTGTCAGGACTTCCAAGTAAATAGAATTTCCCAAGGTCATGGCTAGAGTTCATTCATGACAAACGGAGAGCCTGAGGGGACTATAAATACCAAGGCCCACTCAGATACATACTGAGTCTTTGGGAACAGAGACAAAGCAGTAAACACTAAGGATCCCTGCTCTGCCAGTAATCTAACCATGTGACTCTGGGCAAGTTACTTCACTTTTCCATATCTGCACCTGTAAATGGAAGGGGGATTGAACTAGATGATTTCTGAAGTCCCTTCAGTTCTGACATTCTACCCTATACCCAAAGGCATTGTAAGATCATTAATGCCCCTCCCTCCCCTAACCTTACTTACCCTGAGACTTCTGGCAAGGGTGGGAGAGGAGGGAGCGGAATAAGGAGTGGCTCTCTGTGACTCCTGACAAGGTTCAGGCTTGCCAGTTTCCCAAGGTTTATGCTTTCTCCTTTAATCAAGAGACTCTGCCTCTTCCCTTCCTATATTTTTGCAACTCCATCTTTCTTCCACACCAAAATAAAGGAGGAATAAGAAAGCCGCACTCTTAAAAGAAGCCGATCCTTTACACTCTGTGGAATGCCAGCTGCTAATGTTGTGCCCTGTTCAAACAACAGTGCACTGGCAGTAGAGAGGTGGGGTATGGCGGGGCTACCCCTTTACTCCTCAGCTAGGTGCATCCTTGGCTTACTGTGGCCCATCCAAGGAGGGGGCTGTCCCACATGGTCGCTGCAATGAGGCAGTCATCTCATTGGTTCTCTGCTTCTTCCCTAAGCCTTTCGGCCTATTCTCCATATAGCATCTAGGGTGGTTTTAAAACCAAACTCAGGTCATATGAGTCCTTTGTTCAAAACCCACTCGTGGCTTCATAGCTCCTT
|
CCATCCCCACCCCCCAGTCAAGCTCCAGAGGAACAGATCTGAAGATGGTGGGGAAGGATCAGTTGAACACTCTAAGCTGATAAGAGTGAGTGGGTTCCTCTCTCCTTCCCAACAGTAAGGCAGAGCAGAGTGGCATCTCCTTGGGAACAGTCATCTAGAGATAAATGCCATCCTCCAGCCCTAAGAAGGGTGGAGAGAAGAGTACAAGGAAAATGGTGGTGAAGAATCCATCATCTGTCCTATCATCCAGAAAAACCTACCTGCAGAGAGGAGGGTAACCAGTCAAAGACTGGGGCAGTCCGGCTTGACTAATGCCCTCCCACCTTCTTCCCTTAATCTCACCAACACGGAAGGGGCAGATGACAGGCTCCAGTGGGCAGTGTCCTGGCTGCAAGCCCTGAGCTTCACTCCACCCCCTCCCCGCTCCCCCCGGCCCCCACAAATATATCTCTCTATACATGTATATACAGGCGCACACATGCACGCAAACACAGAGAGGCCCGTGCAATTTCCATGTAAAACAGGGAGAGGGTGGCAAAGGAAAGGCAAACAGGGAGTAGAAGGGCTTGTGGGGACAGGGAAAGGACTCAGATGCCAAGAGGACAGCAACCACTGCCAAACAAAGAGAATACCCCACTCGACCTCCCGAAACCCAGAGGGTGAGAGAGAGAGGGGCCACCCCATGAAACCGTAACAACTTTTTGTTTTAAATCCAGTAAATTGGAATGACTCATCATCAGGACAGCAATTAGGGATTGGTCATATAGGTGGACAGGAAAAAGGAGGGGAGGCAGGGGAGGCAAGGCTCTTGCTGGGCATGTGGACATGATACCCAGGGCCCTGGCCACACTTGCATGGAGAGGAAGGGGTAGGACTGGGGCAGGGTGACAGTAGGTATGTCAGGGGTGGGTGGGGTGCTTTGTTAGGGCTGTCTGGCTTTCACTTCTTGTTTTTGAGCTGATTGGCCAGCCAGTCCAGGCCTTCGTACAGCCCGTCCCCGCTGGTGGCACAGGTGGCCTGAATGTACCAGTTACGGTGACGAAGGGAATGCAGGCCCAGCTTGTCTGTGATCTCAGCAGCGTTCATAGCATTAGGCAGATCCTGGAGCACGTGGGAGACACATAAAAAGAAGCCTCAGGATTTTTTAAAGGCTTCTAGAACACCCATCTACCAAAGAAATGTGTACCAGCACCTTCCCCTCCTCCTTTATTTTAGGAAACCCAGAACAAGATCCTAAGGAGCTACTTTGGATTTAGTCACCTAGAACTCAAGATCCAAAGCACTAGAGGTCACTGTACTGAAGAATTGGAAACCAAATACGAGGATGGTGGGGAAGCAAGAGACGTGATTCAGACTGACCAAAGAATCAGGTCTGTCTGACAGCAGGAGTGAGGCCAATTCTCCTAAAGTAGATAACAGGCAAGATGAAAGAAAGATTTGAGACAATTCCTGAGGACTGAAATGTTGCTAAATAAAGCTTGGGGTGGGGCACAAGAAGAGGGGCATAAAGAAGCCAAGTGCTCAGTTTCCCACGCTTCTAACATTGAGAGCATACTAAAAGGGTTAACCATATAATAGGCCCAAGAGCCAACAATTTCCACAGCCAGTTTGCTGTCTCCCAAATTCAGGGGTGGGAAGAAGTCTCACCTGTTTGTTTGCAAAGACAAGGAGTACAGCATCCCGGAGCTCGTCCTCCGCCAGCATTCTCATCAGCTCTTCCCGGGCCTCATTTACTCGCTCCCGATCATTGCTGTCGACCACAAATATCAACCCTAGGAAGGCAGAGCATGGGCTGCACTAAGATGACAGGTAACCCCCTCCCCCCAACCAAAAGACCACACCTGCCTGACACCCTCCAAATATTTGCTCCCTTTCCTCCCTTTCTTCTGCCCCCAGGAGCTGCAGCAGGGTAACAGTTGGCCACCCATTAACAAAGACAGCCACACTCTCTGCTCATACCCAACCAACCCACGCTAGGCCTGAGCATACCTTGGGTGTTCTGGAAGTAGTGTCTCCAGAGGGGTCGAATCTTGTCCTGGCCACCCACAACCCACACTGTAAAGCTGATGTTCTTATACTCCACTGTCTCCACATTGAACCCTTTGGAAAAAAAACAGGCAATGGCCACTTGGCCTCAAACACTAGCCCCGCAAACACCACCACAATGAGTTTGGTTCTGCTTTCCCCCAGTGGTGGCCATAACACCAACAATGGAACAAAAGCTAAGGCTTCCTCAGACCTGATAATCGTTAAGCTAGCAGCCTGAAGGCCAAAATGAAAACCTAAGAGAAGTCAAAGAGGATGAGGAAGTTGGTTGAGAGGTTCACAGTTGCCTGGGTAACGTGGGCCAACTTTCCTGACTTTTCCACTCAGTCTTTGGTGCTCCCTCCTACAAAATGACTCAGCCCTGCTCTGGTACTTTGGCTACCAGAGTCGGCCTCAGCTAAGATGTGGGGCCTGAGAGGCAGAGTGAAGAAAGGGAAGTAAGCTGGCATCCTGGAGCCCCAAAGGCAGAGCCAGCTGACAATGCTGACTGGAGCCCCCATCTACATAGCAAATGTAGGGAGACCTCCCTTCAGCAAACTGTAACCAAGATTGGCCACCAAAGATCTAAACCCAAGTAATTCCAAGCCTTTGGCAGGAACATCAAAGCCTTTTACCTGCTTTCCAAACAACACAGAGAAGAAACCAACTCCGTGCCTGAGGGCAGCTGTTGAGTGCCAGGCCATGGAAGTTCCCGCATCAGGGAGAGCCAGGTTAGGTGGGCAAACAGCAGCCTCAGCACCTGGTAGTAAGCTAAACAACACCACCCTCTTTTCTGAACCCCACAAATTGTATGGACTTGCCTGGGGAGAAGAGGCCAGGTTGGGGAACCAGGAATAGGTCCCTGCCCTGCCTCAGCTGCCGGCGTGAAAGCCCACATCCAAGCTGTGCTCTTACCAATGGTAGGGATGGTGGTGACGATCTCCCCGAGTTTCAGCTTGTATAGGATGGTGGTCTTTCCTGCGGCATCCAGGCCCACCATCAGGATGCGCATCTCCTTCTTCCCAATCAGGCTCTTGAGAAGGTTTCCAAAGATATTGCCCATGATCACAGCAGCTGCTTTCTGGGGACAGTGGGGCCCAAGTAGGGGCAGTGGCAGTCTGGTTTTGGCCTGGTCCCTGGTATGGAAGACTTGATCCTAGACAAAGGAAATGTAAAATCATACCATCATTTGCTTGTCAGGACTTCCAAGTAAATAGAATTTCCCAAGGTCATGGCTAGAGTTCATTCATGACAAACGGAGAGCCTGAGGGGACTATAAATACCAAGGCCCACTCAGATACATACTGAGTCTTTGGGAACAGAGACAAAGCAGTAAACACTAAGGATCCCTGCTCTGCCAGTAATCTAACCATGTGACTCTGGGCAAGTTACTTCACTTTTCCATATCTGCACCTGTAAATGGAAGGGGGATTGAACTAGATGATTTCTGAAGTCCCTTCAGTTCTGACATTCTACCCTATACCCAAAGGCATTGTAAGATCATTAATGCCCCTCCCTCCCCTAACCTTACTTACCCTGAGACTTCTGGCAAGGGTGGGAGAGGAGGGAGCGGAATAAGGAGTGGCTCTCTGTGACTCCTGACAAGGTTCAGGCTTGCCAGTTTCCCAAGGTTTATGCTTTCTCCTTTAATCAAGAGACTCTGCCTCTTCCCTTCCTATATTTTTGCAACTCCATCTTTCTTCCACACCAAAATAAAGGAGGAATAAGAAAGCCGCACTCTTAAAAGAAGCCGATCCTTTACACTCTGTGGAATGCCAGCTGCTAATGTTGTGCCCTGTTCAAACAACAGTGCACTGGCAGTAGAGAGGTGGGGTATGGCGGGGCTACCCCTTTACTCCTCAGCTAGGTGCATCCTTGGCTTACTGTGGCCCATCCAAGGAGGGGGCTGTCCCACATGGTCGCTGCAATGAGGCAGTCATCTCATTGGTTCTCTGCTTCTTCCCTAAGCCTTTCGGCCTATTCTCCATATAGCATCTAGGGTGGTTTTAAAACCAAACTCAGGTCATATGAGTCCTTTGTTCAAAACCCACTCGTGGCTTCATAGCTCCTT
|
Task1_train_17544
|
Chromosome 12 houses a mutation in gene ARF3 (ARF GTPase 3). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
|
Pathogenic; Atrophy/Degeneration affecting the central nervous system
|
CTTGTTTTTGAGCTGATTGGCCAGCCAGTCCAGGCCTTCGTACAGCCCGTCCCCGCTGGTGGCACAGGTGGCCTGAATGTACCAGTTACGGTGACGAAGGGAATGCAGGCCCAGCTTGTCTGTGATCTCAGCAGCGTTCATAGCATTAGGCAGATCCTGGAGCACGTGGGAGACACATAAAAAGAAGCCTCAGGATTTTTTAAAGGCTTCTAGAACACCCATCTACCAAAGAAATGTGTACCAGCACCTTCCCCTCCTCCTTTATTTTAGGAAACCCAGAACAAGATCCTAAGGAGCTACTTTGGATTTAGTCACCTAGAACTCAAGATCCAAAGCACTAGAGGTCACTGTACTGAAGAATTGGAAACCAAATACGAGGATGGTGGGGAAGCAAGAGACGTGATTCAGACTGACCAAAGAATCAGGTCTGTCTGACAGCAGGAGTGAGGCCAATTCTCCTAAAGTAGATAACAGGCAAGATGAAAGAAAGATTTGAGACAATTCCTGAGGACTGAAATGTTGCTAAATAAAGCTTGGGGTGGGGCACAAGAAGAGGGGCATAAAGAAGCCAAGTGCTCAGTTTCCCACGCTTCTAACATTGAGAGCATACTAAAAGGGTTAACCATATAATAGGCCCAAGAGCCAACAATTTCCACAGCCAGTTTGCTGTCTCCCAAATTCAGGGGTGGGAAGAAGTCTCACCTGTTTGTTTGCAAAGACAAGGAGTACAGCATCCCGGAGCTCGTCCTCCGCCAGCATTCTCATCAGCTCTTCCCGGGCCTCATTTACTCGCTCCCGATCATTGCTGTCGACCACAAATATCAACCCTAGGAAGGCAGAGCATGGGCTGCACTAAGATGACAGGTAACCCCCTCCCCCCAACCAAAAGACCACACCTGCCTGACACCCTCCAAATATTTGCTCCCTTTCCTCCCTTTCTTCTGCCCCCAGGAGCTGCAGCAGGGTAACAGTTGGCCACCCATTAACAAAGACAGCCACACTCTCTGCTCATACCCAACCAACCCACGCTAGGCCTGAGCATACCTTGGGTGTTCTGGAAGTAGTGTCTCCAGAGGGGTCGAATCTTGTCCTGGCCACCCACATCCCACACTGTAAAGCTGATGTTCTTATACTCCACTGTCTCCACATTGAACCCTTTGGAAAAAAAACAGGCAATGGCCACTTGGCCTCAAACACTAGCCCCGCAAACACCACCACAATGAGTTTGGTTCTGCTTTCCCCCAGTGGTGGCCATAACACCAACAATGGAACAAAAGCTAAGGCTTCCTCAGACCTGATAATCGTTAAGCTAGCAGCCTGAAGGCCAAAATGAAAACCTAAGAGAAGTCAAAGAGGATGAGGAAGTTGGTTGAGAGGTTCACAGTTGCCTGGGTAACGTGGGCCAACTTTCCTGACTTTTCCACTCAGTCTTTGGTGCTCCCTCCTACAAAATGACTCAGCCCTGCTCTGGTACTTTGGCTACCAGAGTCGGCCTCAGCTAAGATGTGGGGCCTGAGAGGCAGAGTGAAGAAAGGGAAGTAAGCTGGCATCCTGGAGCCCCAAAGGCAGAGCCAGCTGACAATGCTGACTGGAGCCCCCATCTACATAGCAAATGTAGGGAGACCTCCCTTCAGCAAACTGTAACCAAGATTGGCCACCAAAGATCTAAACCCAAGTAATTCCAAGCCTTTGGCAGGAACATCAAAGCCTTTTACCTGCTTTCCAAACAACACAGAGAAGAAACCAACTCCGTGCCTGAGGGCAGCTGTTGAGTGCCAGGCCATGGAAGTTCCCGCATCAGGGAGAGCCAGGTTAGGTGGGCAAACAGCAGCCTCAGCACCTGGTAGTAAGCTAAACAACACCACCCTCTTTTCTGAACCCCACAAATTGTATGGACTTGCCTGGGGAGAAGAGGCCAGGTTGGGGAACCAGGAATAGGTCCCTGCCCTGCCTCAGCTGCCGGCGTGAAAGCCCACATCCAAGCTGTGCTCTTACCAATGGTAGGGATGGTGGTGACGATCTCCCCGAGTTTCAGCTTGTATAGGATGGTGGTCTTTCCTGCGGCATCCAGGCCCACCATCAGGATGCGCATCTCCTTCTTCCCAATCAGGCTCTTGAGAAGGTTTCCAAAGATATTGCCCATGATCACAGCAGCTGCTTTCTGGGGACAGTGGGGCCCAAGTAGGGGCAGTGGCAGTCTGGTTTTGGCCTGGTCCCTGGTATGGAAGACTTGATCCTAGACAAAGGAAATGTAAAATCATACCATCATTTGCTTGTCAGGACTTCCAAGTAAATAGAATTTCCCAAGGTCATGGCTAGAGTTCATTCATGACAAACGGAGAGCCTGAGGGGACTATAAATACCAAGGCCCACTCAGATACATACTGAGTCTTTGGGAACAGAGACAAAGCAGTAAACACTAAGGATCCCTGCTCTGCCAGTAATCTAACCATGTGACTCTGGGCAAGTTACTTCACTTTTCCATATCTGCACCTGTAAATGGAAGGGGGATTGAACTAGATGATTTCTGAAGTCCCTTCAGTTCTGACATTCTACCCTATACCCAAAGGCATTGTAAGATCATTAATGCCCCTCCCTCCCCTAACCTTACTTACCCTGAGACTTCTGGCAAGGGTGGGAGAGGAGGGAGCGGAATAAGGAGTGGCTCTCTGTGACTCCTGACAAGGTTCAGGCTTGCCAGTTTCCCAAGGTTTATGCTTTCTCCTTTAATCAAGAGACTCTGCCTCTTCCCTTCCTATATTTTTGCAACTCCATCTTTCTTCCACACCAAAATAAAGGAGGAATAAGAAAGCCGCACTCTTAAAAGAAGCCGATCCTTTACACTCTGTGGAATGCCAGCTGCTAATGTTGTGCCCTGTTCAAACAACAGTGCACTGGCAGTAGAGAGGTGGGGTATGGCGGGGCTACCCCTTTACTCCTCAGCTAGGTGCATCCTTGGCTTACTGTGGCCCATCCAAGGAGGGGGCTGTCCCACATGGTCGCTGCAATGAGGCAGTCATCTCATTGGTTCTCTGCTTCTTCCCTAAGCCTTTCGGCCTATTCTCCATATAGCATCTAGGGTGGTTTTAAAACCAAACTCAGGTCATATGAGTCCTTTGTTCAAAACCCACTCGTGGCTTCATAGCTCCTTTTCAGTAAAACCCAAGGCCCAAACCATGGCTTACAAGGTCCTACAAGACCTACACTCCCCTACTTCTCTCATGAGATCTACTACTCTCTCTTTGCTTACTCCACTCCAATTCCCCAACACTTTCCTTTCCTGCCTCAAAGCTTTTTTTTTTTTTTTTTAAAGAGGCGAGGTCTTACCGTGTTGCCCAGGCTGGTCCCAAACTCCTGGGTTCAAGCAATCCTCCTGCCTTAGCCTCCCAGGGCACTGGGATTACAAGCATGAGCCACCATGCCTGGCCCAAAGCTTTCATATTTGCTATCACCTCTGCCTGGAATGCTTCTCTTCCAGATAACCATCATAGATTACTCCTTCACCTCCTTCAGTTAGTTGTCTGTTTCAATGTCACCTACCAAAGAGGCCTCCCACAACCACATGTATAACACACACACACAGACACACACCACTCCCTACCCCATTTATCCCACTTTACTTTTCTTCACAACATTTATCACCATCTGATACATTATATATTTATTTCTTGCTGATTGTTTTATTCTGCCTAAGATATCAGCTCCTTATGTGTTTTGTTCACTGCTCTGTCTCCAGTACCAAGAATAGTGCCTAGCACACAGTACTTCAAAAACTGAACTAATCCCCAGGGTCTCTACTGACTTTACTGAAAGCTCACTCAGACTGGATGCTATGCCTGGCATATGGTAGGCACATAACAAATACCTGCTGAGGCCGAGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCCAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGAACAGCCTAGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTAGCCGGGCATGGTGGCACACTCCTGTAGTCCCAGCTACTCGGAACGTTGAGGCAGGAGAATCACTTGAACCTGGAAGGTGGAGGTTGCA
|
CTTGTTTTTGAGCTGATTGGCCAGCCAGTCCAGGCCTTCGTACAGCCCGTCCCCGCTGGTGGCACAGGTGGCCTGAATGTACCAGTTACGGTGACGAAGGGAATGCAGGCCCAGCTTGTCTGTGATCTCAGCAGCGTTCATAGCATTAGGCAGATCCTGGAGCACGTGGGAGACACATAAAAAGAAGCCTCAGGATTTTTTAAAGGCTTCTAGAACACCCATCTACCAAAGAAATGTGTACCAGCACCTTCCCCTCCTCCTTTATTTTAGGAAACCCAGAACAAGATCCTAAGGAGCTACTTTGGATTTAGTCACCTAGAACTCAAGATCCAAAGCACTAGAGGTCACTGTACTGAAGAATTGGAAACCAAATACGAGGATGGTGGGGAAGCAAGAGACGTGATTCAGACTGACCAAAGAATCAGGTCTGTCTGACAGCAGGAGTGAGGCCAATTCTCCTAAAGTAGATAACAGGCAAGATGAAAGAAAGATTTGAGACAATTCCTGAGGACTGAAATGTTGCTAAATAAAGCTTGGGGTGGGGCACAAGAAGAGGGGCATAAAGAAGCCAAGTGCTCAGTTTCCCACGCTTCTAACATTGAGAGCATACTAAAAGGGTTAACCATATAATAGGCCCAAGAGCCAACAATTTCCACAGCCAGTTTGCTGTCTCCCAAATTCAGGGGTGGGAAGAAGTCTCACCTGTTTGTTTGCAAAGACAAGGAGTACAGCATCCCGGAGCTCGTCCTCCGCCAGCATTCTCATCAGCTCTTCCCGGGCCTCATTTACTCGCTCCCGATCATTGCTGTCGACCACAAATATCAACCCTAGGAAGGCAGAGCATGGGCTGCACTAAGATGACAGGTAACCCCCTCCCCCCAACCAAAAGACCACACCTGCCTGACACCCTCCAAATATTTGCTCCCTTTCCTCCCTTTCTTCTGCCCCCAGGAGCTGCAGCAGGGTAACAGTTGGCCACCCATTAACAAAGACAGCCACACTCTCTGCTCATACCCAACCAACCCACGCTAGGCCTGAGCATACCTTGGGTGTTCTGGAAGTAGTGTCTCCAGAGGGGTCGAATCTTGTCCTGGCCACCCACATCCCACACTGTAAAGCTGATGTTCTTATACTCCACTGTCTCCACATTGAACCCTTTGGAAAAAAAACAGGCAATGGCCACTTGGCCTCAAACACTAGCCCCGCAAACACCACCACAATGAGTTTGGTTCTGCTTTCCCCCAGTGGTGGCCATAACACCAACAATGGAACAAAAGCTAAGGCTTCCTCAGACCTGATAATCGTTAAGCTAGCAGCCTGAAGGCCAAAATGAAAACCTAAGAGAAGTCAAAGAGGATGAGGAAGTTGGTTGAGAGGTTCACAGTTGCCTGGGTAACGTGGGCCAACTTTCCTGACTTTTCCACTCAGTCTTTGGTGCTCCCTCCTACAAAATGACTCAGCCCTGCTCTGGTACTTTGGCTACCAGAGTCGGCCTCAGCTAAGATGTGGGGCCTGAGAGGCAGAGTGAAGAAAGGGAAGTAAGCTGGCATCCTGGAGCCCCAAAGGCAGAGCCAGCTGACAATGCTGACTGGAGCCCCCATCTACATAGCAAATGTAGGGAGACCTCCCTTCAGCAAACTGTAACCAAGATTGGCCACCAAAGATCTAAACCCAAGTAATTCCAAGCCTTTGGCAGGAACATCAAAGCCTTTTACCTGCTTTCCAAACAACACAGAGAAGAAACCAACTCCGTGCCTGAGGGCAGCTGTTGAGTGCCAGGCCATGGAAGTTCCCGCATCAGGGAGAGCCAGGTTAGGTGGGCAAACAGCAGCCTCAGCACCTGGTAGTAAGCTAAACAACACCACCCTCTTTTCTGAACCCCACAAATTGTATGGACTTGCCTGGGGAGAAGAGGCCAGGTTGGGGAACCAGGAATAGGTCCCTGCCCTGCCTCAGCTGCCGGCGTGAAAGCCCACATCCAAGCTGTGCTCTTACCAATGGTAGGGATGGTGGTGACGATCTCCCCGAGTTTCAGCTTGTATAGGATGTTGGTCTTTCCTGCGGCATCCAGGCCCACCATCAGGATGCGCATCTCCTTCTTCCCAATCAGGCTCTTGAGAAGGTTTCCAAAGATATTGCCCATGATCACAGCAGCTGCTTTCTGGGGACAGTGGGGCCCAAGTAGGGGCAGTGGCAGTCTGGTTTTGGCCTGGTCCCTGGTATGGAAGACTTGATCCTAGACAAAGGAAATGTAAAATCATACCATCATTTGCTTGTCAGGACTTCCAAGTAAATAGAATTTCCCAAGGTCATGGCTAGAGTTCATTCATGACAAACGGAGAGCCTGAGGGGACTATAAATACCAAGGCCCACTCAGATACATACTGAGTCTTTGGGAACAGAGACAAAGCAGTAAACACTAAGGATCCCTGCTCTGCCAGTAATCTAACCATGTGACTCTGGGCAAGTTACTTCACTTTTCCATATCTGCACCTGTAAATGGAAGGGGGATTGAACTAGATGATTTCTGAAGTCCCTTCAGTTCTGACATTCTACCCTATACCCAAAGGCATTGTAAGATCATTAATGCCCCTCCCTCCCCTAACCTTACTTACCCTGAGACTTCTGGCAAGGGTGGGAGAGGAGGGAGCGGAATAAGGAGTGGCTCTCTGTGACTCCTGACAAGGTTCAGGCTTGCCAGTTTCCCAAGGTTTATGCTTTCTCCTTTAATCAAGAGACTCTGCCTCTTCCCTTCCTATATTTTTGCAACTCCATCTTTCTTCCACACCAAAATAAAGGAGGAATAAGAAAGCCGCACTCTTAAAAGAAGCCGATCCTTTACACTCTGTGGAATGCCAGCTGCTAATGTTGTGCCCTGTTCAAACAACAGTGCACTGGCAGTAGAGAGGTGGGGTATGGCGGGGCTACCCCTTTACTCCTCAGCTAGGTGCATCCTTGGCTTACTGTGGCCCATCCAAGGAGGGGGCTGTCCCACATGGTCGCTGCAATGAGGCAGTCATCTCATTGGTTCTCTGCTTCTTCCCTAAGCCTTTCGGCCTATTCTCCATATAGCATCTAGGGTGGTTTTAAAACCAAACTCAGGTCATATGAGTCCTTTGTTCAAAACCCACTCGTGGCTTCATAGCTCCTTTTCAGTAAAACCCAAGGCCCAAACCATGGCTTACAAGGTCCTACAAGACCTACACTCCCCTACTTCTCTCATGAGATCTACTACTCTCTCTTTGCTTACTCCACTCCAATTCCCCAACACTTTCCTTTCCTGCCTCAAAGCTTTTTTTTTTTTTTTTTAAAGAGGCGAGGTCTTACCGTGTTGCCCAGGCTGGTCCCAAACTCCTGGGTTCAAGCAATCCTCCTGCCTTAGCCTCCCAGGGCACTGGGATTACAAGCATGAGCCACCATGCCTGGCCCAAAGCTTTCATATTTGCTATCACCTCTGCCTGGAATGCTTCTCTTCCAGATAACCATCATAGATTACTCCTTCACCTCCTTCAGTTAGTTGTCTGTTTCAATGTCACCTACCAAAGAGGCCTCCCACAACCACATGTATAACACACACACACAGACACACACCACTCCCTACCCCATTTATCCCACTTTACTTTTCTTCACAACATTTATCACCATCTGATACATTATATATTTATTTCTTGCTGATTGTTTTATTCTGCCTAAGATATCAGCTCCTTATGTGTTTTGTTCACTGCTCTGTCTCCAGTACCAAGAATAGTGCCTAGCACACAGTACTTCAAAAACTGAACTAATCCCCAGGGTCTCTACTGACTTTACTGAAAGCTCACTCAGACTGGATGCTATGCCTGGCATATGGTAGGCACATAACAAATACCTGCTGAGGCCGAGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCCAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGAACAGCCTAGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTAGCCGGGCATGGTGGCACACTCCTGTAGTCCCAGCTACTCGGAACGTTGAGGCAGGAGAATCACTTGAACCTGGAAGGTGGAGGTTGCA
|
Task1_train_17545
|
A genetic alteration is present in ARF3 (ARF GTPase 3) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; Kyphosis
|
CTTGTTTTTGAGCTGATTGGCCAGCCAGTCCAGGCCTTCGTACAGCCCGTCCCCGCTGGTGGCACAGGTGGCCTGAATGTACCAGTTACGGTGACGAAGGGAATGCAGGCCCAGCTTGTCTGTGATCTCAGCAGCGTTCATAGCATTAGGCAGATCCTGGAGCACGTGGGAGACACATAAAAAGAAGCCTCAGGATTTTTTAAAGGCTTCTAGAACACCCATCTACCAAAGAAATGTGTACCAGCACCTTCCCCTCCTCCTTTATTTTAGGAAACCCAGAACAAGATCCTAAGGAGCTACTTTGGATTTAGTCACCTAGAACTCAAGATCCAAAGCACTAGAGGTCACTGTACTGAAGAATTGGAAACCAAATACGAGGATGGTGGGGAAGCAAGAGACGTGATTCAGACTGACCAAAGAATCAGGTCTGTCTGACAGCAGGAGTGAGGCCAATTCTCCTAAAGTAGATAACAGGCAAGATGAAAGAAAGATTTGAGACAATTCCTGAGGACTGAAATGTTGCTAAATAAAGCTTGGGGTGGGGCACAAGAAGAGGGGCATAAAGAAGCCAAGTGCTCAGTTTCCCACGCTTCTAACATTGAGAGCATACTAAAAGGGTTAACCATATAATAGGCCCAAGAGCCAACAATTTCCACAGCCAGTTTGCTGTCTCCCAAATTCAGGGGTGGGAAGAAGTCTCACCTGTTTGTTTGCAAAGACAAGGAGTACAGCATCCCGGAGCTCGTCCTCCGCCAGCATTCTCATCAGCTCTTCCCGGGCCTCATTTACTCGCTCCCGATCATTGCTGTCGACCACAAATATCAACCCTAGGAAGGCAGAGCATGGGCTGCACTAAGATGACAGGTAACCCCCTCCCCCCAACCAAAAGACCACACCTGCCTGACACCCTCCAAATATTTGCTCCCTTTCCTCCCTTTCTTCTGCCCCCAGGAGCTGCAGCAGGGTAACAGTTGGCCACCCATTAACAAAGACAGCCACACTCTCTGCTCATACCCAACCAACCCACGCTAGGCCTGAGCATACCTTGGGTGTTCTGGAAGTAGTGTCTCCAGAGGGGTCGAATCTTGTCCTGGCCACCCACATCCCACACTGTAAAGCTGATGTTCTTATACTCCACTGTCTCCACATTGAACCCTTTGGAAAAAAAACAGGCAATGGCCACTTGGCCTCAAACACTAGCCCCGCAAACACCACCACAATGAGTTTGGTTCTGCTTTCCCCCAGTGGTGGCCATAACACCAACAATGGAACAAAAGCTAAGGCTTCCTCAGACCTGATAATCGTTAAGCTAGCAGCCTGAAGGCCAAAATGAAAACCTAAGAGAAGTCAAAGAGGATGAGGAAGTTGGTTGAGAGGTTCACAGTTGCCTGGGTAACGTGGGCCAACTTTCCTGACTTTTCCACTCAGTCTTTGGTGCTCCCTCCTACAAAATGACTCAGCCCTGCTCTGGTACTTTGGCTACCAGAGTCGGCCTCAGCTAAGATGTGGGGCCTGAGAGGCAGAGTGAAGAAAGGGAAGTAAGCTGGCATCCTGGAGCCCCAAAGGCAGAGCCAGCTGACAATGCTGACTGGAGCCCCCATCTACATAGCAAATGTAGGGAGACCTCCCTTCAGCAAACTGTAACCAAGATTGGCCACCAAAGATCTAAACCCAAGTAATTCCAAGCCTTTGGCAGGAACATCAAAGCCTTTTACCTGCTTTCCAAACAACACAGAGAAGAAACCAACTCCGTGCCTGAGGGCAGCTGTTGAGTGCCAGGCCATGGAAGTTCCCGCATCAGGGAGAGCCAGGTTAGGTGGGCAAACAGCAGCCTCAGCACCTGGTAGTAAGCTAAACAACACCACCCTCTTTTCTGAACCCCACAAATTGTATGGACTTGCCTGGGGAGAAGAGGCCAGGTTGGGGAACCAGGAATAGGTCCCTGCCCTGCCTCAGCTGCCGGCGTGAAAGCCCACATCCAAGCTGTGCTCTTACCAATGGTAGGGATGGTGGTGACGATCTCCCCGAGTTTCAGCTTGTATAGGATGGTGGTCTTTCCTGCGGCATCCAGGCCCACCATCAGGATGCGCATCTCCTTCTTCCCAATCAGGCTCTTGAGAAGGTTTCCAAAGATATTGCCCATGATCACAGCAGCTGCTTTCTGGGGACAGTGGGGCCCAAGTAGGGGCAGTGGCAGTCTGGTTTTGGCCTGGTCCCTGGTATGGAAGACTTGATCCTAGACAAAGGAAATGTAAAATCATACCATCATTTGCTTGTCAGGACTTCCAAGTAAATAGAATTTCCCAAGGTCATGGCTAGAGTTCATTCATGACAAACGGAGAGCCTGAGGGGACTATAAATACCAAGGCCCACTCAGATACATACTGAGTCTTTGGGAACAGAGACAAAGCAGTAAACACTAAGGATCCCTGCTCTGCCAGTAATCTAACCATGTGACTCTGGGCAAGTTACTTCACTTTTCCATATCTGCACCTGTAAATGGAAGGGGGATTGAACTAGATGATTTCTGAAGTCCCTTCAGTTCTGACATTCTACCCTATACCCAAAGGCATTGTAAGATCATTAATGCCCCTCCCTCCCCTAACCTTACTTACCCTGAGACTTCTGGCAAGGGTGGGAGAGGAGGGAGCGGAATAAGGAGTGGCTCTCTGTGACTCCTGACAAGGTTCAGGCTTGCCAGTTTCCCAAGGTTTATGCTTTCTCCTTTAATCAAGAGACTCTGCCTCTTCCCTTCCTATATTTTTGCAACTCCATCTTTCTTCCACACCAAAATAAAGGAGGAATAAGAAAGCCGCACTCTTAAAAGAAGCCGATCCTTTACACTCTGTGGAATGCCAGCTGCTAATGTTGTGCCCTGTTCAAACAACAGTGCACTGGCAGTAGAGAGGTGGGGTATGGCGGGGCTACCCCTTTACTCCTCAGCTAGGTGCATCCTTGGCTTACTGTGGCCCATCCAAGGAGGGGGCTGTCCCACATGGTCGCTGCAATGAGGCAGTCATCTCATTGGTTCTCTGCTTCTTCCCTAAGCCTTTCGGCCTATTCTCCATATAGCATCTAGGGTGGTTTTAAAACCAAACTCAGGTCATATGAGTCCTTTGTTCAAAACCCACTCGTGGCTTCATAGCTCCTTTTCAGTAAAACCCAAGGCCCAAACCATGGCTTACAAGGTCCTACAAGACCTACACTCCCCTACTTCTCTCATGAGATCTACTACTCTCTCTTTGCTTACTCCACTCCAATTCCCCAACACTTTCCTTTCCTGCCTCAAAGCTTTTTTTTTTTTTTTTTAAAGAGGCGAGGTCTTACCGTGTTGCCCAGGCTGGTCCCAAACTCCTGGGTTCAAGCAATCCTCCTGCCTTAGCCTCCCAGGGCACTGGGATTACAAGCATGAGCCACCATGCCTGGCCCAAAGCTTTCATATTTGCTATCACCTCTGCCTGGAATGCTTCTCTTCCAGATAACCATCATAGATTACTCCTTCACCTCCTTCAGTTAGTTGTCTGTTTCAATGTCACCTACCAAAGAGGCCTCCCACAACCACATGTATAACACACACACACAGACACACACCACTCCCTACCCCATTTATCCCACTTTACTTTTCTTCACAACATTTATCACCATCTGATACATTATATATTTATTTCTTGCTGATTGTTTTATTCTGCCTAAGATATCAGCTCCTTATGTGTTTTGTTCACTGCTCTGTCTCCAGTACCAAGAATAGTGCCTAGCACACAGTACTTCAAAAACTGAACTAATCCCCAGGGTCTCTACTGACTTTACTGAAAGCTCACTCAGACTGGATGCTATGCCTGGCATATGGTAGGCACATAACAAATACCTGCTGAGGCCGAGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCCAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGAACAGCCTAGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTAGCCGGGCATGGTGGCACACTCCTGTAGTCCCAGCTACTCGGAACGTTGAGGCAGGAGAATCACTTGAACCTGGAAGGTGGAGGTTGCA
|
CTTGTTTTTGAGCTGATTGGCCAGCCAGTCCAGGCCTTCGTACAGCCCGTCCCCGCTGGTGGCACAGGTGGCCTGAATGTACCAGTTACGGTGACGAAGGGAATGCAGGCCCAGCTTGTCTGTGATCTCAGCAGCGTTCATAGCATTAGGCAGATCCTGGAGCACGTGGGAGACACATAAAAAGAAGCCTCAGGATTTTTTAAAGGCTTCTAGAACACCCATCTACCAAAGAAATGTGTACCAGCACCTTCCCCTCCTCCTTTATTTTAGGAAACCCAGAACAAGATCCTAAGGAGCTACTTTGGATTTAGTCACCTAGAACTCAAGATCCAAAGCACTAGAGGTCACTGTACTGAAGAATTGGAAACCAAATACGAGGATGGTGGGGAAGCAAGAGACGTGATTCAGACTGACCAAAGAATCAGGTCTGTCTGACAGCAGGAGTGAGGCCAATTCTCCTAAAGTAGATAACAGGCAAGATGAAAGAAAGATTTGAGACAATTCCTGAGGACTGAAATGTTGCTAAATAAAGCTTGGGGTGGGGCACAAGAAGAGGGGCATAAAGAAGCCAAGTGCTCAGTTTCCCACGCTTCTAACATTGAGAGCATACTAAAAGGGTTAACCATATAATAGGCCCAAGAGCCAACAATTTCCACAGCCAGTTTGCTGTCTCCCAAATTCAGGGGTGGGAAGAAGTCTCACCTGTTTGTTTGCAAAGACAAGGAGTACAGCATCCCGGAGCTCGTCCTCCGCCAGCATTCTCATCAGCTCTTCCCGGGCCTCATTTACTCGCTCCCGATCATTGCTGTCGACCACAAATATCAACCCTAGGAAGGCAGAGCATGGGCTGCACTAAGATGACAGGTAACCCCCTCCCCCCAACCAAAAGACCACACCTGCCTGACACCCTCCAAATATTTGCTCCCTTTCCTCCCTTTCTTCTGCCCCCAGGAGCTGCAGCAGGGTAACAGTTGGCCACCCATTAACAAAGACAGCCACACTCTCTGCTCATACCCAACCAACCCACGCTAGGCCTGAGCATACCTTGGGTGTTCTGGAAGTAGTGTCTCCAGAGGGGTCGAATCTTGTCCTGGCCACCCACATCCCACACTGTAAAGCTGATGTTCTTATACTCCACTGTCTCCACATTGAACCCTTTGGAAAAAAAACAGGCAATGGCCACTTGGCCTCAAACACTAGCCCCGCAAACACCACCACAATGAGTTTGGTTCTGCTTTCCCCCAGTGGTGGCCATAACACCAACAATGGAACAAAAGCTAAGGCTTCCTCAGACCTGATAATCGTTAAGCTAGCAGCCTGAAGGCCAAAATGAAAACCTAAGAGAAGTCAAAGAGGATGAGGAAGTTGGTTGAGAGGTTCACAGTTGCCTGGGTAACGTGGGCCAACTTTCCTGACTTTTCCACTCAGTCTTTGGTGCTCCCTCCTACAAAATGACTCAGCCCTGCTCTGGTACTTTGGCTACCAGAGTCGGCCTCAGCTAAGATGTGGGGCCTGAGAGGCAGAGTGAAGAAAGGGAAGTAAGCTGGCATCCTGGAGCCCCAAAGGCAGAGCCAGCTGACAATGCTGACTGGAGCCCCCATCTACATAGCAAATGTAGGGAGACCTCCCTTCAGCAAACTGTAACCAAGATTGGCCACCAAAGATCTAAACCCAAGTAATTCCAAGCCTTTGGCAGGAACATCAAAGCCTTTTACCTGCTTTCCAAACAACACAGAGAAGAAACCAACTCCGTGCCTGAGGGCAGCTGTTGAGTGCCAGGCCATGGAAGTTCCCGCATCAGGGAGAGCCAGGTTAGGTGGGCAAACAGCAGCCTCAGCACCTGGTAGTAAGCTAAACAACACCACCCTCTTTTCTGAACCCCACAAATTGTATGGACTTGCCTGGGGAGAAGAGGCCAGGTTGGGGAACCAGGAATAGGTCCCTGCCCTGCCTCAGCTGCCGGCGTGAAAGCCCACATCCAAGCTGTGCTCTTACCAATGGTAGGGATGGTGGTGACGATCTCCCCGAGTTTCAGCTTGTATAGGATGTTGGTCTTTCCTGCGGCATCCAGGCCCACCATCAGGATGCGCATCTCCTTCTTCCCAATCAGGCTCTTGAGAAGGTTTCCAAAGATATTGCCCATGATCACAGCAGCTGCTTTCTGGGGACAGTGGGGCCCAAGTAGGGGCAGTGGCAGTCTGGTTTTGGCCTGGTCCCTGGTATGGAAGACTTGATCCTAGACAAAGGAAATGTAAAATCATACCATCATTTGCTTGTCAGGACTTCCAAGTAAATAGAATTTCCCAAGGTCATGGCTAGAGTTCATTCATGACAAACGGAGAGCCTGAGGGGACTATAAATACCAAGGCCCACTCAGATACATACTGAGTCTTTGGGAACAGAGACAAAGCAGTAAACACTAAGGATCCCTGCTCTGCCAGTAATCTAACCATGTGACTCTGGGCAAGTTACTTCACTTTTCCATATCTGCACCTGTAAATGGAAGGGGGATTGAACTAGATGATTTCTGAAGTCCCTTCAGTTCTGACATTCTACCCTATACCCAAAGGCATTGTAAGATCATTAATGCCCCTCCCTCCCCTAACCTTACTTACCCTGAGACTTCTGGCAAGGGTGGGAGAGGAGGGAGCGGAATAAGGAGTGGCTCTCTGTGACTCCTGACAAGGTTCAGGCTTGCCAGTTTCCCAAGGTTTATGCTTTCTCCTTTAATCAAGAGACTCTGCCTCTTCCCTTCCTATATTTTTGCAACTCCATCTTTCTTCCACACCAAAATAAAGGAGGAATAAGAAAGCCGCACTCTTAAAAGAAGCCGATCCTTTACACTCTGTGGAATGCCAGCTGCTAATGTTGTGCCCTGTTCAAACAACAGTGCACTGGCAGTAGAGAGGTGGGGTATGGCGGGGCTACCCCTTTACTCCTCAGCTAGGTGCATCCTTGGCTTACTGTGGCCCATCCAAGGAGGGGGCTGTCCCACATGGTCGCTGCAATGAGGCAGTCATCTCATTGGTTCTCTGCTTCTTCCCTAAGCCTTTCGGCCTATTCTCCATATAGCATCTAGGGTGGTTTTAAAACCAAACTCAGGTCATATGAGTCCTTTGTTCAAAACCCACTCGTGGCTTCATAGCTCCTTTTCAGTAAAACCCAAGGCCCAAACCATGGCTTACAAGGTCCTACAAGACCTACACTCCCCTACTTCTCTCATGAGATCTACTACTCTCTCTTTGCTTACTCCACTCCAATTCCCCAACACTTTCCTTTCCTGCCTCAAAGCTTTTTTTTTTTTTTTTTAAAGAGGCGAGGTCTTACCGTGTTGCCCAGGCTGGTCCCAAACTCCTGGGTTCAAGCAATCCTCCTGCCTTAGCCTCCCAGGGCACTGGGATTACAAGCATGAGCCACCATGCCTGGCCCAAAGCTTTCATATTTGCTATCACCTCTGCCTGGAATGCTTCTCTTCCAGATAACCATCATAGATTACTCCTTCACCTCCTTCAGTTAGTTGTCTGTTTCAATGTCACCTACCAAAGAGGCCTCCCACAACCACATGTATAACACACACACACAGACACACACCACTCCCTACCCCATTTATCCCACTTTACTTTTCTTCACAACATTTATCACCATCTGATACATTATATATTTATTTCTTGCTGATTGTTTTATTCTGCCTAAGATATCAGCTCCTTATGTGTTTTGTTCACTGCTCTGTCTCCAGTACCAAGAATAGTGCCTAGCACACAGTACTTCAAAAACTGAACTAATCCCCAGGGTCTCTACTGACTTTACTGAAAGCTCACTCAGACTGGATGCTATGCCTGGCATATGGTAGGCACATAACAAATACCTGCTGAGGCCGAGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCCAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGAACAGCCTAGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTAGCCGGGCATGGTGGCACACTCCTGTAGTCCCAGCTACTCGGAACGTTGAGGCAGGAGAATCACTTGAACCTGGAAGGTGGAGGTTGCA
|
Task1_train_17546
|
The variant affects gene ARF3 (ARF GTPase 3), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
|
Pathogenic; Intellectual disability
|
CTTGTTTTTGAGCTGATTGGCCAGCCAGTCCAGGCCTTCGTACAGCCCGTCCCCGCTGGTGGCACAGGTGGCCTGAATGTACCAGTTACGGTGACGAAGGGAATGCAGGCCCAGCTTGTCTGTGATCTCAGCAGCGTTCATAGCATTAGGCAGATCCTGGAGCACGTGGGAGACACATAAAAAGAAGCCTCAGGATTTTTTAAAGGCTTCTAGAACACCCATCTACCAAAGAAATGTGTACCAGCACCTTCCCCTCCTCCTTTATTTTAGGAAACCCAGAACAAGATCCTAAGGAGCTACTTTGGATTTAGTCACCTAGAACTCAAGATCCAAAGCACTAGAGGTCACTGTACTGAAGAATTGGAAACCAAATACGAGGATGGTGGGGAAGCAAGAGACGTGATTCAGACTGACCAAAGAATCAGGTCTGTCTGACAGCAGGAGTGAGGCCAATTCTCCTAAAGTAGATAACAGGCAAGATGAAAGAAAGATTTGAGACAATTCCTGAGGACTGAAATGTTGCTAAATAAAGCTTGGGGTGGGGCACAAGAAGAGGGGCATAAAGAAGCCAAGTGCTCAGTTTCCCACGCTTCTAACATTGAGAGCATACTAAAAGGGTTAACCATATAATAGGCCCAAGAGCCAACAATTTCCACAGCCAGTTTGCTGTCTCCCAAATTCAGGGGTGGGAAGAAGTCTCACCTGTTTGTTTGCAAAGACAAGGAGTACAGCATCCCGGAGCTCGTCCTCCGCCAGCATTCTCATCAGCTCTTCCCGGGCCTCATTTACTCGCTCCCGATCATTGCTGTCGACCACAAATATCAACCCTAGGAAGGCAGAGCATGGGCTGCACTAAGATGACAGGTAACCCCCTCCCCCCAACCAAAAGACCACACCTGCCTGACACCCTCCAAATATTTGCTCCCTTTCCTCCCTTTCTTCTGCCCCCAGGAGCTGCAGCAGGGTAACAGTTGGCCACCCATTAACAAAGACAGCCACACTCTCTGCTCATACCCAACCAACCCACGCTAGGCCTGAGCATACCTTGGGTGTTCTGGAAGTAGTGTCTCCAGAGGGGTCGAATCTTGTCCTGGCCACCCACATCCCACACTGTAAAGCTGATGTTCTTATACTCCACTGTCTCCACATTGAACCCTTTGGAAAAAAAACAGGCAATGGCCACTTGGCCTCAAACACTAGCCCCGCAAACACCACCACAATGAGTTTGGTTCTGCTTTCCCCCAGTGGTGGCCATAACACCAACAATGGAACAAAAGCTAAGGCTTCCTCAGACCTGATAATCGTTAAGCTAGCAGCCTGAAGGCCAAAATGAAAACCTAAGAGAAGTCAAAGAGGATGAGGAAGTTGGTTGAGAGGTTCACAGTTGCCTGGGTAACGTGGGCCAACTTTCCTGACTTTTCCACTCAGTCTTTGGTGCTCCCTCCTACAAAATGACTCAGCCCTGCTCTGGTACTTTGGCTACCAGAGTCGGCCTCAGCTAAGATGTGGGGCCTGAGAGGCAGAGTGAAGAAAGGGAAGTAAGCTGGCATCCTGGAGCCCCAAAGGCAGAGCCAGCTGACAATGCTGACTGGAGCCCCCATCTACATAGCAAATGTAGGGAGACCTCCCTTCAGCAAACTGTAACCAAGATTGGCCACCAAAGATCTAAACCCAAGTAATTCCAAGCCTTTGGCAGGAACATCAAAGCCTTTTACCTGCTTTCCAAACAACACAGAGAAGAAACCAACTCCGTGCCTGAGGGCAGCTGTTGAGTGCCAGGCCATGGAAGTTCCCGCATCAGGGAGAGCCAGGTTAGGTGGGCAAACAGCAGCCTCAGCACCTGGTAGTAAGCTAAACAACACCACCCTCTTTTCTGAACCCCACAAATTGTATGGACTTGCCTGGGGAGAAGAGGCCAGGTTGGGGAACCAGGAATAGGTCCCTGCCCTGCCTCAGCTGCCGGCGTGAAAGCCCACATCCAAGCTGTGCTCTTACCAATGGTAGGGATGGTGGTGACGATCTCCCCGAGTTTCAGCTTGTATAGGATGGTGGTCTTTCCTGCGGCATCCAGGCCCACCATCAGGATGCGCATCTCCTTCTTCCCAATCAGGCTCTTGAGAAGGTTTCCAAAGATATTGCCCATGATCACAGCAGCTGCTTTCTGGGGACAGTGGGGCCCAAGTAGGGGCAGTGGCAGTCTGGTTTTGGCCTGGTCCCTGGTATGGAAGACTTGATCCTAGACAAAGGAAATGTAAAATCATACCATCATTTGCTTGTCAGGACTTCCAAGTAAATAGAATTTCCCAAGGTCATGGCTAGAGTTCATTCATGACAAACGGAGAGCCTGAGGGGACTATAAATACCAAGGCCCACTCAGATACATACTGAGTCTTTGGGAACAGAGACAAAGCAGTAAACACTAAGGATCCCTGCTCTGCCAGTAATCTAACCATGTGACTCTGGGCAAGTTACTTCACTTTTCCATATCTGCACCTGTAAATGGAAGGGGGATTGAACTAGATGATTTCTGAAGTCCCTTCAGTTCTGACATTCTACCCTATACCCAAAGGCATTGTAAGATCATTAATGCCCCTCCCTCCCCTAACCTTACTTACCCTGAGACTTCTGGCAAGGGTGGGAGAGGAGGGAGCGGAATAAGGAGTGGCTCTCTGTGACTCCTGACAAGGTTCAGGCTTGCCAGTTTCCCAAGGTTTATGCTTTCTCCTTTAATCAAGAGACTCTGCCTCTTCCCTTCCTATATTTTTGCAACTCCATCTTTCTTCCACACCAAAATAAAGGAGGAATAAGAAAGCCGCACTCTTAAAAGAAGCCGATCCTTTACACTCTGTGGAATGCCAGCTGCTAATGTTGTGCCCTGTTCAAACAACAGTGCACTGGCAGTAGAGAGGTGGGGTATGGCGGGGCTACCCCTTTACTCCTCAGCTAGGTGCATCCTTGGCTTACTGTGGCCCATCCAAGGAGGGGGCTGTCCCACATGGTCGCTGCAATGAGGCAGTCATCTCATTGGTTCTCTGCTTCTTCCCTAAGCCTTTCGGCCTATTCTCCATATAGCATCTAGGGTGGTTTTAAAACCAAACTCAGGTCATATGAGTCCTTTGTTCAAAACCCACTCGTGGCTTCATAGCTCCTTTTCAGTAAAACCCAAGGCCCAAACCATGGCTTACAAGGTCCTACAAGACCTACACTCCCCTACTTCTCTCATGAGATCTACTACTCTCTCTTTGCTTACTCCACTCCAATTCCCCAACACTTTCCTTTCCTGCCTCAAAGCTTTTTTTTTTTTTTTTTAAAGAGGCGAGGTCTTACCGTGTTGCCCAGGCTGGTCCCAAACTCCTGGGTTCAAGCAATCCTCCTGCCTTAGCCTCCCAGGGCACTGGGATTACAAGCATGAGCCACCATGCCTGGCCCAAAGCTTTCATATTTGCTATCACCTCTGCCTGGAATGCTTCTCTTCCAGATAACCATCATAGATTACTCCTTCACCTCCTTCAGTTAGTTGTCTGTTTCAATGTCACCTACCAAAGAGGCCTCCCACAACCACATGTATAACACACACACACAGACACACACCACTCCCTACCCCATTTATCCCACTTTACTTTTCTTCACAACATTTATCACCATCTGATACATTATATATTTATTTCTTGCTGATTGTTTTATTCTGCCTAAGATATCAGCTCCTTATGTGTTTTGTTCACTGCTCTGTCTCCAGTACCAAGAATAGTGCCTAGCACACAGTACTTCAAAAACTGAACTAATCCCCAGGGTCTCTACTGACTTTACTGAAAGCTCACTCAGACTGGATGCTATGCCTGGCATATGGTAGGCACATAACAAATACCTGCTGAGGCCGAGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCCAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGAACAGCCTAGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTAGCCGGGCATGGTGGCACACTCCTGTAGTCCCAGCTACTCGGAACGTTGAGGCAGGAGAATCACTTGAACCTGGAAGGTGGAGGTTGCA
|
CTTGTTTTTGAGCTGATTGGCCAGCCAGTCCAGGCCTTCGTACAGCCCGTCCCCGCTGGTGGCACAGGTGGCCTGAATGTACCAGTTACGGTGACGAAGGGAATGCAGGCCCAGCTTGTCTGTGATCTCAGCAGCGTTCATAGCATTAGGCAGATCCTGGAGCACGTGGGAGACACATAAAAAGAAGCCTCAGGATTTTTTAAAGGCTTCTAGAACACCCATCTACCAAAGAAATGTGTACCAGCACCTTCCCCTCCTCCTTTATTTTAGGAAACCCAGAACAAGATCCTAAGGAGCTACTTTGGATTTAGTCACCTAGAACTCAAGATCCAAAGCACTAGAGGTCACTGTACTGAAGAATTGGAAACCAAATACGAGGATGGTGGGGAAGCAAGAGACGTGATTCAGACTGACCAAAGAATCAGGTCTGTCTGACAGCAGGAGTGAGGCCAATTCTCCTAAAGTAGATAACAGGCAAGATGAAAGAAAGATTTGAGACAATTCCTGAGGACTGAAATGTTGCTAAATAAAGCTTGGGGTGGGGCACAAGAAGAGGGGCATAAAGAAGCCAAGTGCTCAGTTTCCCACGCTTCTAACATTGAGAGCATACTAAAAGGGTTAACCATATAATAGGCCCAAGAGCCAACAATTTCCACAGCCAGTTTGCTGTCTCCCAAATTCAGGGGTGGGAAGAAGTCTCACCTGTTTGTTTGCAAAGACAAGGAGTACAGCATCCCGGAGCTCGTCCTCCGCCAGCATTCTCATCAGCTCTTCCCGGGCCTCATTTACTCGCTCCCGATCATTGCTGTCGACCACAAATATCAACCCTAGGAAGGCAGAGCATGGGCTGCACTAAGATGACAGGTAACCCCCTCCCCCCAACCAAAAGACCACACCTGCCTGACACCCTCCAAATATTTGCTCCCTTTCCTCCCTTTCTTCTGCCCCCAGGAGCTGCAGCAGGGTAACAGTTGGCCACCCATTAACAAAGACAGCCACACTCTCTGCTCATACCCAACCAACCCACGCTAGGCCTGAGCATACCTTGGGTGTTCTGGAAGTAGTGTCTCCAGAGGGGTCGAATCTTGTCCTGGCCACCCACATCCCACACTGTAAAGCTGATGTTCTTATACTCCACTGTCTCCACATTGAACCCTTTGGAAAAAAAACAGGCAATGGCCACTTGGCCTCAAACACTAGCCCCGCAAACACCACCACAATGAGTTTGGTTCTGCTTTCCCCCAGTGGTGGCCATAACACCAACAATGGAACAAAAGCTAAGGCTTCCTCAGACCTGATAATCGTTAAGCTAGCAGCCTGAAGGCCAAAATGAAAACCTAAGAGAAGTCAAAGAGGATGAGGAAGTTGGTTGAGAGGTTCACAGTTGCCTGGGTAACGTGGGCCAACTTTCCTGACTTTTCCACTCAGTCTTTGGTGCTCCCTCCTACAAAATGACTCAGCCCTGCTCTGGTACTTTGGCTACCAGAGTCGGCCTCAGCTAAGATGTGGGGCCTGAGAGGCAGAGTGAAGAAAGGGAAGTAAGCTGGCATCCTGGAGCCCCAAAGGCAGAGCCAGCTGACAATGCTGACTGGAGCCCCCATCTACATAGCAAATGTAGGGAGACCTCCCTTCAGCAAACTGTAACCAAGATTGGCCACCAAAGATCTAAACCCAAGTAATTCCAAGCCTTTGGCAGGAACATCAAAGCCTTTTACCTGCTTTCCAAACAACACAGAGAAGAAACCAACTCCGTGCCTGAGGGCAGCTGTTGAGTGCCAGGCCATGGAAGTTCCCGCATCAGGGAGAGCCAGGTTAGGTGGGCAAACAGCAGCCTCAGCACCTGGTAGTAAGCTAAACAACACCACCCTCTTTTCTGAACCCCACAAATTGTATGGACTTGCCTGGGGAGAAGAGGCCAGGTTGGGGAACCAGGAATAGGTCCCTGCCCTGCCTCAGCTGCCGGCGTGAAAGCCCACATCCAAGCTGTGCTCTTACCAATGGTAGGGATGGTGGTGACGATCTCCCCGAGTTTCAGCTTGTATAGGATGTTGGTCTTTCCTGCGGCATCCAGGCCCACCATCAGGATGCGCATCTCCTTCTTCCCAATCAGGCTCTTGAGAAGGTTTCCAAAGATATTGCCCATGATCACAGCAGCTGCTTTCTGGGGACAGTGGGGCCCAAGTAGGGGCAGTGGCAGTCTGGTTTTGGCCTGGTCCCTGGTATGGAAGACTTGATCCTAGACAAAGGAAATGTAAAATCATACCATCATTTGCTTGTCAGGACTTCCAAGTAAATAGAATTTCCCAAGGTCATGGCTAGAGTTCATTCATGACAAACGGAGAGCCTGAGGGGACTATAAATACCAAGGCCCACTCAGATACATACTGAGTCTTTGGGAACAGAGACAAAGCAGTAAACACTAAGGATCCCTGCTCTGCCAGTAATCTAACCATGTGACTCTGGGCAAGTTACTTCACTTTTCCATATCTGCACCTGTAAATGGAAGGGGGATTGAACTAGATGATTTCTGAAGTCCCTTCAGTTCTGACATTCTACCCTATACCCAAAGGCATTGTAAGATCATTAATGCCCCTCCCTCCCCTAACCTTACTTACCCTGAGACTTCTGGCAAGGGTGGGAGAGGAGGGAGCGGAATAAGGAGTGGCTCTCTGTGACTCCTGACAAGGTTCAGGCTTGCCAGTTTCCCAAGGTTTATGCTTTCTCCTTTAATCAAGAGACTCTGCCTCTTCCCTTCCTATATTTTTGCAACTCCATCTTTCTTCCACACCAAAATAAAGGAGGAATAAGAAAGCCGCACTCTTAAAAGAAGCCGATCCTTTACACTCTGTGGAATGCCAGCTGCTAATGTTGTGCCCTGTTCAAACAACAGTGCACTGGCAGTAGAGAGGTGGGGTATGGCGGGGCTACCCCTTTACTCCTCAGCTAGGTGCATCCTTGGCTTACTGTGGCCCATCCAAGGAGGGGGCTGTCCCACATGGTCGCTGCAATGAGGCAGTCATCTCATTGGTTCTCTGCTTCTTCCCTAAGCCTTTCGGCCTATTCTCCATATAGCATCTAGGGTGGTTTTAAAACCAAACTCAGGTCATATGAGTCCTTTGTTCAAAACCCACTCGTGGCTTCATAGCTCCTTTTCAGTAAAACCCAAGGCCCAAACCATGGCTTACAAGGTCCTACAAGACCTACACTCCCCTACTTCTCTCATGAGATCTACTACTCTCTCTTTGCTTACTCCACTCCAATTCCCCAACACTTTCCTTTCCTGCCTCAAAGCTTTTTTTTTTTTTTTTTAAAGAGGCGAGGTCTTACCGTGTTGCCCAGGCTGGTCCCAAACTCCTGGGTTCAAGCAATCCTCCTGCCTTAGCCTCCCAGGGCACTGGGATTACAAGCATGAGCCACCATGCCTGGCCCAAAGCTTTCATATTTGCTATCACCTCTGCCTGGAATGCTTCTCTTCCAGATAACCATCATAGATTACTCCTTCACCTCCTTCAGTTAGTTGTCTGTTTCAATGTCACCTACCAAAGAGGCCTCCCACAACCACATGTATAACACACACACACAGACACACACCACTCCCTACCCCATTTATCCCACTTTACTTTTCTTCACAACATTTATCACCATCTGATACATTATATATTTATTTCTTGCTGATTGTTTTATTCTGCCTAAGATATCAGCTCCTTATGTGTTTTGTTCACTGCTCTGTCTCCAGTACCAAGAATAGTGCCTAGCACACAGTACTTCAAAAACTGAACTAATCCCCAGGGTCTCTACTGACTTTACTGAAAGCTCACTCAGACTGGATGCTATGCCTGGCATATGGTAGGCACATAACAAATACCTGCTGAGGCCGAGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCCAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGAACAGCCTAGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTAGCCGGGCATGGTGGCACACTCCTGTAGTCCCAGCTACTCGGAACGTTGAGGCAGGAGAATCACTTGAACCTGGAAGGTGGAGGTTGCA
|
Task1_train_17547
|
A genomic change on Chromosome 12 affects WNT10B (Wnt family member 10B). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; not provided
|
AAGGCAACAGAGCGAGATCCTGTCTCAAAAAATAATAATAATAAATAAGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCGTGTGGATCACTTGAGGCAAGGAGTTCGAGACCAGCCTGGCCAACCAACATGGCGAAAACCCATCTCTACTAAAAATACAAAACTTAGCCAGATATGGTAATGCATACCTGTAATCCCAGCTACTCGGGAGACTAAGGCACAAGGATGGTTTGAACCCAGGAGGAGGAGGTTGCAATGAGCCAAGATCTCACCATTGTACTCCAGCCTGGGTGACAAAGTGAGACCCTGTCTCAATCAAATAAATAAGGACAAAAAACATGCAAATAATTCCATGAGAGAACATGCTGGTTTTGCTAGTTTCCAGAGGGAAAAACTCCCATTTCAAGCATATGAATCTCTTTTATACGTTTCCCATCAGTCTTGCATCTATATCCCAAGTTCACTCCTTTGGAACCAGAGAAAAAAGTACCTGTTCTTTTGGGTCCAAATTCAGTGTTGAGATACATTTAGGACTGAAAAACTCCAGAACAAAGGCAACCTCGTGGTCTAGAATGAGGGTCAACACACTGCAGCTAGGGGACCAAATTTGGTCTTGCAGCCCATTTCTGTGAATGAAGTTTTACTGGACACGGCCACGCTCATTCGTTTATGTGTGGTCTATGGCTGCTGTTGATCTATAACAGCAGAGTTGAGTAGTTGTGGCAGAGTTGAATAGTTGGGACAAAGACCACAAGTGTAATGTATTTACTATCCAGCCCTTTACCGAAAAAAAACAAAAAAATTGCCAGCCCTTGTTCTAAGGCAGTGATCAAGGTGAAATCTGGAGTTGAGGCGCATAGAGAGTCAATAGGGCCTACATCTGGAACTCTAGCCCTTCCCACCTAGGAGTCCTTCCTGGTTTTACAAAGGAAAAGTTGCCAACAAAGTCACTGAGATTCATTTCAAATCCTTTGCGGAACTCAGCAGGATATACATAAAGTCACTGAGTGTAGGAAGGTAGGAGAATTCACCTAGAAAAGAAGCTATGGACTGGGATCCCAAGTGTGGGTACATACATCACCATCTGCATCCACCAGTCCAGTAACTTAATTTATTTTAGTTTCAAACAGGAACCAAGAACAAGTCTCAGTATGATAAATTATCCCTTCCCACCCTTCCTGCTGAAGAAGGAAAAAGAGGCTCCAAGAGTCATGGGAAAACCCCTTCCTTTGGAGGGTCCCCATTAACATCTGAATGGAAGGAGACAACTTCCCTAAGGGCCTGGACAGACAACTCTCTGAGGATTCAGGGGAGAGTGCCCCTCAGCACTCTGTCTCTTTCCCAAGAAAAACCTCTCTACCACTGTCTCCCATTATCCCACAAGAGGGAGCCCAGGCTGCAGTAAAGGAGTTTGGGGATAGTACATAGGAGTGGGTGATCTCTTTCTAGATACAGATCTTATGGCTCCAAACAGTGCCTGGGGTTATCCCTCAAGGGAGAGGAGTGGTGAAACTATAGGGACTCCCCAGCCAAAAGGAGTATGAATCAGGGTTAAAGGGGCTCTGGAGTTGAGAAGTGGGAGGAGCAATACAGTGCATTTCATCTTAGTCCATTCAGGTGTCTAAGGAGCAGAAGAGGGGTGGCAGCTTCCCCTCAAGACCCTCCAATTGTTGGGGAGAAGGCTACACATCCCAGAGTCCACCTGACCCCCACCACCCCTAAAGCTGTTTCCAGGTAGATACTTTAAGCTTCCAGGGACCAAGAGTGACCTTGGAAGGAAATCAGAGCAAAGGGCTGAAAAGGCGCCCCTCTCACACAGTCCTCTTCCCCAGCCCCAAGGTAAGGCTGACCCTCACTTACACACATTCACCCACTCTGTAACCTTGCACTCATCACACAGCACATAGCAGCACCAGTGGAAGCGGCAATGGCAGCGCTCAACTCGTGTCTGCCGGAGCACGTTGTGCCCACGGCCACAGCACAGGCTGCCACAGCCATCCAACAGGCGGCTGGTCTTGTTGCAGGCCCGGCCCCTTGTCCCTGGGGAGCCCATAGTGGGGTCTCGCTCACAGAAGTCAGGAGACTTCTCAAAGTAGACCAGCTCTCCTGAGAGGCGACGGGGACGCAGACGGGGCTGGAAGGCTCCAGAATTGCGGTTGTGGGTATCAATGAAGATGGCCCGGCCCAGCCGCTCCCTCAACGCCGCCCCCACTGCCCGGAACTCTGGGGCCGCCCTCCAGCATGTCTTGAACTGGCAGCTGCCTGATGTGCCATGACACTTGCATTTCCGCTTCAGGTTTTCAGTTACCACCTAGAGCATCAGGGGGAAAAGAGGTGAAGCAGAGGGCAGCAAATGGACAGAACACAGAGGCACAGGAGAGGGAAGGGAACAGAGAACACAGGGAGGGACAAATGGAGGCAAGAATAACATGGTATATCAGAACAGAAAGGACATTGCAGTTAGCTAATAGCCAACTTCCTCATTTTATGATGGCAGAATTGAAGACAGAGCAGTGTGATTTGTCCATCTTCCATCAACAGCTAGTAATAGAGCCAAGACTCAACTCAAGTTGTCCTGACTCCCAATCCAGTGCTCTTTCCATTGTAAGCACTTATAAAATTGGGAGTCTGGCCCACAGCATGCCTAAATTCTGTAGGGAAGGTAGCTGTAATAAGAGCTACTATGCAGTCAGCCAACGATGAGGCACTATGCTGGGTATACTATTTGCTAGCTCAGTCTGTTTTTTTGTTTGTTTTTGTTTTTTGAGACGGAGCCTTGCTCTTGTCGCCCAGGCTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTACTGAGTAGCTGGGATTACAGGCGCAGGCCACCACGCCTGGCTAATTTTTGTCTTTTTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTAGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCCAGTAGCTGGGACTACAGGGACATGCCACCATGCCCGGGTAATTTTTTGTGTTTTTAATAGAGACAGGGTTTCCCACGTTAGCCAGGATGGTCTCGATCTCCTCACCTCTTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTAATTTTTGTACTTTTAATAGAGATGGGGTTTCTCCACCTTGGCCAGGGTGGTCTGGAACTCTTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCGCGCCCGGCCCAGTCTGTTTTTATATGTATAATTTTTTTAAATATAGAGATGGGGTCTCACAACGTTGCTCAGGCTGTTCTTGAACTCCTGGCCTCAAGCAATCCTCCCCCCTCAGCCTCCAAAAGTGCTGAAATTATAGGCGTGAGCCACCACACTGGCCTGCTAGCTCAGTCTTAATAACATTGTAAGATAAGTATCATTAGGTTCTTTACAGATACAAAACTGAGGCTGGGTGACTTGCTGATGGTGAGTGTCAGTCACTCATCACACTTTATCCTATCATTTCCCTATGCCTCTCAAACTCTAACCAGGCCTCAAAAGCTGGGGAGACCCAGGACAAGATGTACACACATACCTGGCGCCCCACCCTGTTGTTGTGGATTCGCATTCGTGCCTGGATGTCCCGGGGAGCTTCCCTGGAATCCAAGAAATCCCGAGAGAACTTCTCTCCAAAGTCCATGTCATGGTTACAGCCACCCCATTCCCATGTGTCCTGGGGGCCAGGGCTGGGGCTTGAGCCAGGGCCAGGGCTGGGCAGAGAGTGGGGGAAACTCTTGCCTCGGGACAGTGCCTGCAGCTGCAGCAGTTTGGCCCTCAGCCGATCCTGCTCACCACTGCCCTTCCAGCCACAGCCACAGCTCACCAGCTTGCCCAGGCTGCAGGCCGTGGCTACTGCGTGCATGACCCCAGCAGCCAGCATGGAGAAGGAAAAAGCACTTTCTCGGAAA
|
AAGGCAACAGAGCGAGATCCTGTCTCAAAAAATAATAATAATAAATAAGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCGTGTGGATCACTTGAGGCAAGGAGTTCGAGACCAGCCTGGCCAACCAACATGGCGAAAACCCATCTCTACTAAAAATACAAAACTTAGCCAGATATGGTAATGCATACCTGTAATCCCAGCTACTCGGGAGACTAAGGCACAAGGATGGTTTGAACCCAGGAGGAGGAGGTTGCAATGAGCCAAGATCTCACCATTGTACTCCAGCCTGGGTGACAAAGTGAGACCCTGTCTCAATCAAATAAATAAGGACAAAAAACATGCAAATAATTCCATGAGAGAACATGCTGGTTTTGCTAGTTTCCAGAGGGAAAAACTCCCATTTCAAGCATATGAATCTCTTTTATACGTTTCCCATCAGTCTTGCATCTATATCCCAAGTTCACTCCTTTGGAACCAGAGAAAAAAGTACCTGTTCTTTTGGGTCCAAATTCAGTGTTGAGATACATTTAGGACTGAAAAACTCCAGAACAAAGGCAACCTCGTGGTCTAGAATGAGGGTCAACACACTGCAGCTAGGGGACCAAATTTGGTCTTGCAGCCCATTTCTGTGAATGAAGTTTTACTGGACACGGCCACGCTCATTCGTTTATGTGTGGTCTATGGCTGCTGTTGATCTATAACAGCAGAGTTGAGTAGTTGTGGCAGAGTTGAATAGTTGGGACAAAGACCACAAGTGTAATGTATTTACTATCCAGCCCTTTACCGAAAAAAAACAAAAAAATTGCCAGCCCTTGTTCTAAGGCAGTGATCAAGGTGAAATCTGGAGTTGAGGCGCATAGAGAGTCAATAGGGCCTACATCTGGAACTCTAGCCCTTCCCACCTAGGAGTCCTTCCTGGTTTTACAAAGGAAAAGTTGCCAACAAAGTCACTGAGATTCATTTCAAATCCTTTGCGGAACTCAGCAGGATATACATAAAGTCACTGAGTGTAGGAAGGTAGGAGAATTCACCTAGAAAAGAAGCTATGGACTGGGATCCCAAGTGTGGGTACATACATCACCATCTGCATCCACCAGTCCAGTAACTTAATTTATTTTAGTTTCAAACAGGAACCAAGAACAAGTCTCAGTATGATAAATTATCCCTTCCCACCCTTCCTGCTGAAGAAGGAAAAAGAGGCTCCAAGAGTCATGGGAAAACCCCTTCCTTTGGAGGGTCCCCATTAACATCTGAATGGAAGGAGACAACTTCCCTAAGGGCCTGGACAGACAACTCTCTGAGGATTCAGGGGAGAGTGCCCCTCAGCACTCTGTCTCTTTCCCAAGAAAAACCTCTCTACCACTGTCTCCCATTATCCCACAAGAGGGAGCCCAGGCTGCAGTAAAGGAGTTTGGGGATAGTACATAGGAGTGGGTGATCTCTTTCTAGATACAGATCTTATGGCTCCAAACAGTGCCTGGGGTTATCCCTCAAGGGAGAGGAGTGGTGAAACTATAGGGACTCCCCAGCCAAAAGGAGTATGAATCAGGGTTAAAGGGGCTCTGGAGTTGAGAAGTGGGAGGAGCAATACAGTGCATTTCATCTTAGTCCATTCAGGTGTCTAAGGAGCAGAAGAGGGGTGGCAGCTTCCCCTCAAGACCCTCCAATTGTTGGGGAGAAGGCTACACATCCCAGAGTCCACCTGACCCCCACCACCCCTAAAGCTGTTTCCAGGTAGATACTTTAAGCTTCCAGGGACCAAGAGTGACCTTGGAAGGAAATCAGAGCAAAGGGCTGAAAAGGCGCCCCTCTCACACAGTCCTCTTCCCCAGCCCCAAGGTAAGGCTGACCCTCACTTACACACATTCACCCACTCTGTAACCTTGCACTCATCACACAGCACATAGCAGCACCAGTGGAAGCGGCAATGGCAGCGCTCAACTCGTGTCTGCCGGAGCACGTTGTGCCCACGGCCACAGCACAGGCTGCCACAGCCATCCAACAGGCGGCTGGTCTTGTTGCAGGCCCAGCCCCTTGTCCCTGGGGAGCCCATAGTGGGGTCTCGCTCACAGAAGTCAGGAGACTTCTCAAAGTAGACCAGCTCTCCTGAGAGGCGACGGGGACGCAGACGGGGCTGGAAGGCTCCAGAATTGCGGTTGTGGGTATCAATGAAGATGGCCCGGCCCAGCCGCTCCCTCAACGCCGCCCCCACTGCCCGGAACTCTGGGGCCGCCCTCCAGCATGTCTTGAACTGGCAGCTGCCTGATGTGCCATGACACTTGCATTTCCGCTTCAGGTTTTCAGTTACCACCTAGAGCATCAGGGGGAAAAGAGGTGAAGCAGAGGGCAGCAAATGGACAGAACACAGAGGCACAGGAGAGGGAAGGGAACAGAGAACACAGGGAGGGACAAATGGAGGCAAGAATAACATGGTATATCAGAACAGAAAGGACATTGCAGTTAGCTAATAGCCAACTTCCTCATTTTATGATGGCAGAATTGAAGACAGAGCAGTGTGATTTGTCCATCTTCCATCAACAGCTAGTAATAGAGCCAAGACTCAACTCAAGTTGTCCTGACTCCCAATCCAGTGCTCTTTCCATTGTAAGCACTTATAAAATTGGGAGTCTGGCCCACAGCATGCCTAAATTCTGTAGGGAAGGTAGCTGTAATAAGAGCTACTATGCAGTCAGCCAACGATGAGGCACTATGCTGGGTATACTATTTGCTAGCTCAGTCTGTTTTTTTGTTTGTTTTTGTTTTTTGAGACGGAGCCTTGCTCTTGTCGCCCAGGCTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTACTGAGTAGCTGGGATTACAGGCGCAGGCCACCACGCCTGGCTAATTTTTGTCTTTTTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTAGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCCAGTAGCTGGGACTACAGGGACATGCCACCATGCCCGGGTAATTTTTTGTGTTTTTAATAGAGACAGGGTTTCCCACGTTAGCCAGGATGGTCTCGATCTCCTCACCTCTTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTAATTTTTGTACTTTTAATAGAGATGGGGTTTCTCCACCTTGGCCAGGGTGGTCTGGAACTCTTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCGCGCCCGGCCCAGTCTGTTTTTATATGTATAATTTTTTTAAATATAGAGATGGGGTCTCACAACGTTGCTCAGGCTGTTCTTGAACTCCTGGCCTCAAGCAATCCTCCCCCCTCAGCCTCCAAAAGTGCTGAAATTATAGGCGTGAGCCACCACACTGGCCTGCTAGCTCAGTCTTAATAACATTGTAAGATAAGTATCATTAGGTTCTTTACAGATACAAAACTGAGGCTGGGTGACTTGCTGATGGTGAGTGTCAGTCACTCATCACACTTTATCCTATCATTTCCCTATGCCTCTCAAACTCTAACCAGGCCTCAAAAGCTGGGGAGACCCAGGACAAGATGTACACACATACCTGGCGCCCCACCCTGTTGTTGTGGATTCGCATTCGTGCCTGGATGTCCCGGGGAGCTTCCCTGGAATCCAAGAAATCCCGAGAGAACTTCTCTCCAAAGTCCATGTCATGGTTACAGCCACCCCATTCCCATGTGTCCTGGGGGCCAGGGCTGGGGCTTGAGCCAGGGCCAGGGCTGGGCAGAGAGTGGGGGAAACTCTTGCCTCGGGACAGTGCCTGCAGCTGCAGCAGTTTGGCCCTCAGCCGATCCTGCTCACCACTGCCCTTCCAGCCACAGCCACAGCTCACCAGCTTGCCCAGGCTGCAGGCCGTGGCTACTGCGTGCATGACCCCAGCAGCCAGCATGGAGAAGGAAAAAGCACTTTCTCGGAAA
|
Task1_train_17548
|
This variant affects gene WNT10B (Wnt family member 10B) located on Chromosome 12. Evaluate its biological effect and specify any disease association.
|
Pathogenic; Tooth agenesis, selective, 8
|
GTAGATACTTTAAGCTTCCAGGGACCAAGAGTGACCTTGGAAGGAAATCAGAGCAAAGGGCTGAAAAGGCGCCCCTCTCACACAGTCCTCTTCCCCAGCCCCAAGGTAAGGCTGACCCTCACTTACACACATTCACCCACTCTGTAACCTTGCACTCATCACACAGCACATAGCAGCACCAGTGGAAGCGGCAATGGCAGCGCTCAACTCGTGTCTGCCGGAGCACGTTGTGCCCACGGCCACAGCACAGGCTGCCACAGCCATCCAACAGGCGGCTGGTCTTGTTGCAGGCCCGGCCCCTTGTCCCTGGGGAGCCCATAGTGGGGTCTCGCTCACAGAAGTCAGGAGACTTCTCAAAGTAGACCAGCTCTCCTGAGAGGCGACGGGGACGCAGACGGGGCTGGAAGGCTCCAGAATTGCGGTTGTGGGTATCAATGAAGATGGCCCGGCCCAGCCGCTCCCTCAACGCCGCCCCCACTGCCCGGAACTCTGGGGCCGCCCTCCAGCATGTCTTGAACTGGCAGCTGCCTGATGTGCCATGACACTTGCATTTCCGCTTCAGGTTTTCAGTTACCACCTAGAGCATCAGGGGGAAAAGAGGTGAAGCAGAGGGCAGCAAATGGACAGAACACAGAGGCACAGGAGAGGGAAGGGAACAGAGAACACAGGGAGGGACAAATGGAGGCAAGAATAACATGGTATATCAGAACAGAAAGGACATTGCAGTTAGCTAATAGCCAACTTCCTCATTTTATGATGGCAGAATTGAAGACAGAGCAGTGTGATTTGTCCATCTTCCATCAACAGCTAGTAATAGAGCCAAGACTCAACTCAAGTTGTCCTGACTCCCAATCCAGTGCTCTTTCCATTGTAAGCACTTATAAAATTGGGAGTCTGGCCCACAGCATGCCTAAATTCTGTAGGGAAGGTAGCTGTAATAAGAGCTACTATGCAGTCAGCCAACGATGAGGCACTATGCTGGGTATACTATTTGCTAGCTCAGTCTGTTTTTTTGTTTGTTTTTGTTTTTTGAGACGGAGCCTTGCTCTTGTCGCCCAGGCTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTACTGAGTAGCTGGGATTACAGGCGCAGGCCACCACGCCTGGCTAATTTTTGTCTTTTTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTAGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCCAGTAGCTGGGACTACAGGGACATGCCACCATGCCCGGGTAATTTTTTGTGTTTTTAATAGAGACAGGGTTTCCCACGTTAGCCAGGATGGTCTCGATCTCCTCACCTCTTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTAATTTTTGTACTTTTAATAGAGATGGGGTTTCTCCACCTTGGCCAGGGTGGTCTGGAACTCTTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCGCGCCCGGCCCAGTCTGTTTTTATATGTATAATTTTTTTAAATATAGAGATGGGGTCTCACAACGTTGCTCAGGCTGTTCTTGAACTCCTGGCCTCAAGCAATCCTCCCCCCTCAGCCTCCAAAAGTGCTGAAATTATAGGCGTGAGCCACCACACTGGCCTGCTAGCTCAGTCTTAATAACATTGTAAGATAAGTATCATTAGGTTCTTTACAGATACAAAACTGAGGCTGGGTGACTTGCTGATGGTGAGTGTCAGTCACTCATCACACTTTATCCTATCATTTCCCTATGCCTCTCAAACTCTAACCAGGCCTCAAAAGCTGGGGAGACCCAGGACAAGATGTACACACATACCTGGCGCCCCACCCTGTTGTTGTGGATTCGCATTCGTGCCTGGATGTCCCGGGGAGCTTCCCTGGAATCCAAGAAATCCCGAGAGAACTTCTCTCCAAAGTCCATGTCATGGTTACAGCCACCCCATTCCCATGTGTCCTGGGGGCCAGGGCTGGGGCTTGAGCCAGGGCCAGGGCTGGGCAGAGAGTGGGGGAAACTCTTGCCTCGGGACAGTGCCTGCAGCTGCAGCAGTTTGGCCCTCAGCCGATCCTGCTCACCACTGCCCTTCCAGCCACAGCCACAGCTCACCAGCTTGCCCAGGCTGCAGGCCGTGGCTACTGCGTGCATGACCCCAGCAGCCAGCATGGAGAAGGAAAAAGCACTTTCTCGGAAACCTGGGGATGAGAAGGGTGTGATGGTGGAGGTAAGGTTGACAGGCAGCTGAGAGTGTGGAGGCAGAAAGAAATAAACAGCCCCCCTCCAACTCCAGAAATTCCTAACTGAATCCTGACCCTGCCATTCACCAGCTGAGTGATTTGGAGGAAAGTCATGGGACAAGGAAGGGTACAAAAAGCACAGAGCCTCAGATTCTTCATTTCTAAAGGGAGGCAGGAGACGATGGGTCAAGATGATCTCTGAGGCCCATTCTCATTCTGTAAGTCTGTGATTTTCAGGTGTAGATGAAAGAGCTAGCCCACAGGGAGAGACCCCTGGAGTCGGGAGATGACTAAGAGGGAGTCCCTGAGGTCTTTGAAGATGTGTACAACCGAGTTCTACATCTGAAAGCCTTAGAAATTCCCCCAACCCTGCAGGGAGCTTGGGTGGGTGAGGTGGGAGCAGAGCCTTTGTGGTTCTGTTTTTTTGTTTTTTTTTTTTTAAATTCACTTCAGGGTTAATCAGTCTTTTAACCAACCTACCTACCACCATCCTAGCACCCCCAAAGCACTGGAGCTATGGAGCTGCCCTTCCGCTTCCCAAGATGTAGTTTTATATTTGCCCTTCAAGACTGCCCTTTTTATGTTTATCCTAACCTGCTATTACCCTATAAAACACTGAGAGGAGGAGAGAGGTTGGGGAGTGATTTTCCCTAAGGCCCTCTTAAAAGGTTGGCTTCTTTGTTATGTTTTGGGGGTCACAGAAGCTCAGGCTGCCAAGCCTTTCCCAGACTTAAATAAACATGCTCACCATTTGGGTGTCCAAGCCTTCCCCTACACCAGGCCCTGTGGGGAAGGAGGGGGACCCTCACTTCATTTTAGGCAGGGGCTCTCCGGAGCCCTGAGAAGACGAGAGACAGCACCCGCTTAGAGACCAGGCCTCTGCTACCCCAGGATCTAGGGCTCCTGGGCCAGCCTTCTGATCCCCCTAACTCCAACCCTCCAGGGGTGAAGCTGTTTGCACAAGTCTTGGGAATTCCCCTGCAGATGGCAGCTGCCTATTAACCCCATAGTCCCCAGAGCACTGCCCCCATCTCTGGGCTGAGCCCCCATGGGTCTTTACACCTCAGGGAGTGAACTCCAGTGGGAAACCAGGAGAGGCAGCCATGCCTCCCAGACCAGGCCAGCAGTGACCTGTTCTCTGCCTCTCCAGCCGTTCTTCACCTGCTCAGGTGAGCAACACCTGGAGCCCCCACAGCACAGAGGAGGGGACTGGCTCCCCAGCTTCAAAGTCATCAGGGTCTTTGTTCCCAGCTTTGGCTCCTGGGAACCCCAGCAATTAGGGGAGCAGATTTAACCCTTAAACGGTTGGGGGCGTCACCCCACCCCCGCTGAGACACTGGGGACACCAGCCTGGGCTTGTCCAGCCAAGATGGGGGGAGAGAAAATGGTGGAGGGAATAGGGGGGCGTTTGAAGCTTCCAGGACTGGGGGCATCTCTTGTTCACAGGTGCAACCCAGATTAAGCTGAGCGGAGGCAGGAAAGGGGGGCCCTAGGGTAGGAGAGCAGGGACCCAGCTGCCTCGCTGGCAGCACGCAGGTGGAAGTTAGGCGCGCAGGGGCCCAGACGAGTGGCCAGACCTGGCTCAGAGCGGCTCCGGGGGGGGCGGGGAATTCCAGGAGAGGCCCCTCCCGGAGCCGCGAAACCATCCCTTCCCGCCTCCGCGCGCCTCGCCCTGCCGCCCACCCCCTAGCCTCCGCGGCAGCGCCGACCC
|
GTAGATACTTTAAGCTTCCAGGGACCAAGAGTGACCTTGGAAGGAAATCAGAGCAAAGGGCTGAAAAGGCGCCCCTCTCACACAGTCCTCTTCCCCAGCCCCAAGGTAAGGCTGACCCTCACTTACACACATTCACCCACTCTGTAACCTTGCACTCATCACACAGCACATAGCAGCACCAGTGGAAGCGGCAATGGCAGCGCTCAACTCGTGTCTGCCGGAGCACGTTGTGCCCACGGCCACAGCACAGGCTGCCACAGCCATCCAACAGGCGGCTGGTCTTGTTGCAGGCCCGGCCCCTTGTCCCTGGGGAGCCCATAGTGGGGTCTCGCTCACAGAAGTCAGGAGACTTCTCAAAGTAGACCAGCTCTCCTGAGAGGCGACGGGGACGCAGACGGGGCTGGAAGGCTCCAGAATTGCGGTTGTGGGTATCAATGAAGATGGCCCGGCCCAGCCGCTCCCTCAACGCCGCCCCCACTGCCCGGAACTCTGGGGCCGCCCTCCAGCATGTCTTGAACTGGCAGCTGCCTGATGTGCCATGACACTTGCATTTCCGCTTCAGGTTTTCAGTTACCACCTAGAGCATCAGGGGGAAAAGAGGTGAAGCAGAGGGCAGCAAATGGACAGAACACAGAGGCACAGGAGAGGGAAGGGAACAGAGAACACAGGGAGGGACAAATGGAGGCAAGAATAACATGGTATATCAGAACAGAAAGGACATTGCAGTTAGCTAATAGCCAACTTCCTCATTTTATGATGGCAGAATTGAAGACAGAGCAGTGTGATTTGTCCATCTTCCATCAACAGCTAGTAATAGAGCCAAGACTCAACTCAAGTTGTCCTGACTCCCAATCCAGTGCTCTTTCCATTGTAAGCACTTATAAAATTGGGAGTCTGGCCCACAGCATGCCTAAATTCTGTAGGGAAGGTAGCTGTAATAAGAGCTACTATGCAGTCAGCCAACGATGAGGCACTATGCTGGGTATACTATTTGCTAGCTCAGTCTGTTTTTTTGTTTGTTTTTGTTTTTTGAGACGGAGCCTTGCTCTTGTCGCCCAGGCTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTACTGAGTAGCTGGGATTACAGGCGCAGGCCACCACGCCTGGCTAATTTTTGTCTTTTTTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTAGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCCAGTAGCTGGGACTACAGGGACATGCCACCATGCCCGGGTAATTTTTTGTGTTTTTAATAGAGACAGGGTTTCCCACGTTAGCCAGGATGGTCTCGATCTCCTCACCTCTTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTAATTTTTGTACTTTTAATAGAGATGGGGTTTCTCCACCTTGGCCAGGGTGGTCTGGAACTCTTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCGCGCCCGGCCCAGTCTGTTTTTATATGTATAATTTTTTTAAATATAGAGATGGGGTCTCACAACGTTGCTCAGGCTGTTCTTGAACTCCTGGCCTCAAGCAATCCTCCCCCCTCAGCCTCCAAAAGTGCTGAAATTATAGGCGTGAGCCACCACACTGGCCTGCTAGCTCAGTCTTAATAACATTGTAAGATAAGTATCATTAGGTTCTTTACAGATACAAAACTGAGGCTGGGTGACTTGCTGATGGTGAGTGTCAGTCACTCATCACACTTTATCCTATCATTTCCCTATGCCTCTCAAACTCTAACCAGGCCTCAAAAGCTGGGGAGACCCAGGACAAGATGTACACACATACCTGGCGCCCCACCCTGTTGTTGTGGATTCGCATTCGTGCCTGGATGTCCCGGGGAGCTTCCCTGGAATCCAAGAAATCCTGAGAGAACTTCTCTCCAAAGTCCATGTCATGGTTACAGCCACCCCATTCCCATGTGTCCTGGGGGCCAGGGCTGGGGCTTGAGCCAGGGCCAGGGCTGGGCAGAGAGTGGGGGAAACTCTTGCCTCGGGACAGTGCCTGCAGCTGCAGCAGTTTGGCCCTCAGCCGATCCTGCTCACCACTGCCCTTCCAGCCACAGCCACAGCTCACCAGCTTGCCCAGGCTGCAGGCCGTGGCTACTGCGTGCATGACCCCAGCAGCCAGCATGGAGAAGGAAAAAGCACTTTCTCGGAAACCTGGGGATGAGAAGGGTGTGATGGTGGAGGTAAGGTTGACAGGCAGCTGAGAGTGTGGAGGCAGAAAGAAATAAACAGCCCCCCTCCAACTCCAGAAATTCCTAACTGAATCCTGACCCTGCCATTCACCAGCTGAGTGATTTGGAGGAAAGTCATGGGACAAGGAAGGGTACAAAAAGCACAGAGCCTCAGATTCTTCATTTCTAAAGGGAGGCAGGAGACGATGGGTCAAGATGATCTCTGAGGCCCATTCTCATTCTGTAAGTCTGTGATTTTCAGGTGTAGATGAAAGAGCTAGCCCACAGGGAGAGACCCCTGGAGTCGGGAGATGACTAAGAGGGAGTCCCTGAGGTCTTTGAAGATGTGTACAACCGAGTTCTACATCTGAAAGCCTTAGAAATTCCCCCAACCCTGCAGGGAGCTTGGGTGGGTGAGGTGGGAGCAGAGCCTTTGTGGTTCTGTTTTTTTGTTTTTTTTTTTTTAAATTCACTTCAGGGTTAATCAGTCTTTTAACCAACCTACCTACCACCATCCTAGCACCCCCAAAGCACTGGAGCTATGGAGCTGCCCTTCCGCTTCCCAAGATGTAGTTTTATATTTGCCCTTCAAGACTGCCCTTTTTATGTTTATCCTAACCTGCTATTACCCTATAAAACACTGAGAGGAGGAGAGAGGTTGGGGAGTGATTTTCCCTAAGGCCCTCTTAAAAGGTTGGCTTCTTTGTTATGTTTTGGGGGTCACAGAAGCTCAGGCTGCCAAGCCTTTCCCAGACTTAAATAAACATGCTCACCATTTGGGTGTCCAAGCCTTCCCCTACACCAGGCCCTGTGGGGAAGGAGGGGGACCCTCACTTCATTTTAGGCAGGGGCTCTCCGGAGCCCTGAGAAGACGAGAGACAGCACCCGCTTAGAGACCAGGCCTCTGCTACCCCAGGATCTAGGGCTCCTGGGCCAGCCTTCTGATCCCCCTAACTCCAACCCTCCAGGGGTGAAGCTGTTTGCACAAGTCTTGGGAATTCCCCTGCAGATGGCAGCTGCCTATTAACCCCATAGTCCCCAGAGCACTGCCCCCATCTCTGGGCTGAGCCCCCATGGGTCTTTACACCTCAGGGAGTGAACTCCAGTGGGAAACCAGGAGAGGCAGCCATGCCTCCCAGACCAGGCCAGCAGTGACCTGTTCTCTGCCTCTCCAGCCGTTCTTCACCTGCTCAGGTGAGCAACACCTGGAGCCCCCACAGCACAGAGGAGGGGACTGGCTCCCCAGCTTCAAAGTCATCAGGGTCTTTGTTCCCAGCTTTGGCTCCTGGGAACCCCAGCAATTAGGGGAGCAGATTTAACCCTTAAACGGTTGGGGGCGTCACCCCACCCCCGCTGAGACACTGGGGACACCAGCCTGGGCTTGTCCAGCCAAGATGGGGGGAGAGAAAATGGTGGAGGGAATAGGGGGGCGTTTGAAGCTTCCAGGACTGGGGGCATCTCTTGTTCACAGGTGCAACCCAGATTAAGCTGAGCGGAGGCAGGAAAGGGGGGCCCTAGGGTAGGAGAGCAGGGACCCAGCTGCCTCGCTGGCAGCACGCAGGTGGAAGTTAGGCGCGCAGGGGCCCAGACGAGTGGCCAGACCTGGCTCAGAGCGGCTCCGGGGGGGGCGGGGAATTCCAGGAGAGGCCCCTCCCGGAGCCGCGAAACCATCCCTTCCCGCCTCCGCGCGCCTCGCCCTGCCGCCCACCCCCTAGCCTCCGCGGCAGCGCCGACCC
|
Task1_train_17549
|
This variant impacts the gene WNT1 (Wnt family member 1) on Chromosome 12. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; not provided
|
GTGTGGTGGTGGGGCATGATAACCAGGCTGGCAGTGCCCCCTATTCCCCATATAGGGAAAAGCAGCCACTTTTTTTTTTTTTTTCAGATGAAGTCTTGCTCTGTAGCCCAGACTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAATCTCCACCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGCGCCACCACACTCAGCTAATTTTTGTATTTTTATTAGAGATGGGATTCCACTATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCGGGGATTATAGGCATGAGCCACCGCGCCCAGCCTGTCACTTCTTCAATAGGAGGCCTAAATGGCCTTGAAGCTGAGTAGGAGTCCCTGGGAGAGAAGAGAAAAGTGTACAATGGATGAGATGGTCACAGGCACTCTGGGTATCCCAGTGTGGTGGGAACTAGAGCTTTAGGGAAAGACAGAAACTTGGCAGAAACATCCAAAGAGAAGCAAACACATGGAGGCACAAGTTTCCTCATCTAGGTTCAATGTAGCCAGCAACCCTTGTCTTCCCAGTCCTCTCCATCACCATACATACAGTGGACATCCGCACCATTTCCCATCCTTTCTGAGCCTAGGCCTCAGAGACTTAGCCACTCCAGGCTGGGTTCACCTCAATACCATCTTGGTTGTAGGCTCGGCTCTCTCCCCCAATGACATGCACTGGTTGACACATACCACAGTGTGACACGCCATAGGATGCCACGAGGTACAAAGGGCAACAGAATGACGCATACACACATATTTAATCTTCCCATGCACATGCTCATCCACCCACTCCACACACAGTCCAGACACTCTGCATCCCTCAATCATGCTTCTGAGTCTCCTGTCGACAGTTGCCACCTCCTTCCTGACACACTGCCCCAGGCGGTGACTGTGACAAGGTGACTCCATGACCTTTTCTGACTTGAGCTAAATTCCAAAATTCTTTGGAAAGTTTCCTAACATCCTTCGTCAGAACAAGGAGTTTCTGCACGTACCAACACACAGGAGGATGCACCCTCAGAACACAGCACATTCTCACTCCCACCCATATTCACGTTGTTCCACTTCACACACACACACACACACACACACACACACAGCCACTTGTGCGCTTCTTCTGGCGCACATGAGCAAACTGCCTGTTGCTTTAGGTTTCTCTCCACCGCTAGGCTCCTTTTGGTTAGCTCACCCCCACAACTCATCCCCGGGATTTCCCTGACCACAGCCGCACTCACGCCCCCGTCTCCCCTTTTTCCTTCTCTGTCCAGCCATCGGGGGTTCCTGGGCGGTTAAGCATCTCCCCGGAGTCGCTGCCCAGAACCACAGCTTTCCTTCCGACACTCAGGATGGGGGAGAGAGGGGACGTCGGAGGGGCCCGGGGTGACGTCGAGGGGACAACCCCACCGCGGGCGGCGAGGCGGGCTGGGCCCCTGGCGGGCTCTCCCCGCAGCACACTCTCGCCGCGCCCCCTGGCGGATGCTAGTCCTCGACGGGCTCCGGACGCTCAGCTGAGTGAGGCGGGCGCGCGTGGGAGGGTGTCCCAAGGGGAGGGGTCCGCGGCCAGTGCAGGCCCGGAGGCGGGGGCCACCGGGCAGGGGGCGGGGGTGAGCCCCGACGGCCAACCCGTCAGCTCTCGGCTCAGACGGGCGGGAACCACAGCCCCGCTCGCTGCCCATTGTCTGCGCCCCTAACCGGTGCGCCCTGGTGCCACAGTGCGGCCCGGAGGGGCAGCCTCCTCCCGTCACTTCAGCCAGCGCCGCAACTATAAGAGGCGGTGCCGCCCGCCGTGGCCGCCTCAGCCCACCAGCCGGGACCGCGAGCCATGCTGTCCGCCGCCCGCCCCCAGGGTTGTTAAAGCCAGACTGCGAACTCTCGCCACTGCCGCCACCGCCGCGTCCCGTCCCACCGTCGCGGGCAACAACCAAAGTCGCCGCAACTGCAGCACAGAGCGGGCAAAGCCAGGCAGGCCATGGGGCTCTGGGCGCTGTTGCCTGGCTGGGTTTCTGCTACGCTGCTGCTGGCGCTGGCCGCTCTGCCCGCAGCCCTGGCTGCCAACAGCAGTGGCCGATGGTGGTAAGTGAGCTGGTGCGGGGTCGCCACTTGTCCCGCGGCACAGAGCCAGGGGCCAACCCTACCCAGCTCCCACGCTCTGGGATCCGTCTGCCGACAGGCTCCCTCCCCGCTCTGACTTCCCTCCGCGACACCGAAGGGCGATCTGGCATGAAACTGCCCCAGACTCCAGCTCTGTACAAGTGGGGCGAATGATCCGCCCGCGGAGGCCTAAGATACCCCAGGCAGGGAGCCCACTCTCATCTAGCACCGCCCTTCCCCTTTGAGCGCCAACTCCAGCCTCACGGCGGTGGCTCACCACAGGTTTCCCCACCTCGGGAAGTGAAGGGCCAGGAGTTCGCCTAGAAAGGAGGGGAGAAGAGGGTGGGACTCCTAAGCATTTCACGCCTTGGGTGGGCAAGAACTGCAGGCCATGATTATCTCGCTCAGGCTGACCGGAAGAGGCTCGGAGATCCAAGGTAGACACTCGGTCTCCGGGTACCTCCTCTGTCCAGTCTCCGGACCTAGGGCTCAGGCGAGCAGCCCTGGGACTACTGGGCACACACAAGTCTGGACGCCCAGTTCTTTCAAATTAGTGAGCCTGGGAGAGCGGGTATTATTAATCTCCCGCCATTCTCTCCAGCCACATACCCCCAGGAAGAGGACCGGGTGGCACAGTTTTTATGGTTAGGGTGCGGATCCCCTTCCTGAGCCTGAGCTATCATACGTCCCACCAGGGGTATTGTGAACGTAGCCTCCTCCACGAACCTGCTTACAGACTCCAAGAGTCTGCAACTGGTACTCGAGCCCAGTCTGCAGCTGTTGAGCCGCAAACAGCGGCGTCTGATACGCCAAAATCCGGGGATCCTGCACAGCGTGAGTGGGGGGCTGCAGAGTGCCGTGCGCGAGTGCAAGTGGCAGTTCCGGAATCGCCGCTGGAACTGTCCCACTGCTCCAGGGCCCCACCTCTTCGGCAAGATCGTCAACCGAGGTGGGTGCCCAGGAAGGCGACGCTTCCGGGAGCAGGGGAAACGCGGGGTCACCCCCAGGGCATGGGCGGGCGAGTTCAGAGAAGGTGTCCCAGGCGCCTGGAGGGTCACACAATCAACCTTGCCAAGTGCCTCGTGCCCAGCGCCAGCTCGGGGCCAGACTTCTACCAGGCGTTTTCCAGCCGTGCACCCTGGAAACGAAGCTTAACTTTTCTGAGCTACTGCCCCAGATAAAGAAAGTTTCGGGTCGCGGACGCCGGCTGACCGCCGCTTTCCCCCAGCCTCTCTCAAAAGCGCCTGGGAAGCTGCTCTCTGCAGGCGTGTGTCTGGCCTCTCGCCCAGCAAGGCTTGCACCGCCAAAATGGGCCGAAAGTTTTGGGCTGCGAAGAAGTCTTGGGGATGTATGGTTCTTCCGCTCCCCTCTCTTCGGTTTGTCTCTCTGGGGCTGCTCCACTTCCGCTATCGAGCCAAAATGCGCCCTAGAATCTCCCAGTAAGGTGTGATTACGCCCGTGGACGTGGCTGCGTGCCCACGCACCTGCTTTCTCTACTAGCCCTAGAGACCAGCTTTCCAGCACTGCCGGCCCTGGCTCTCAGGACTCAAAGTGCGGAGTCGGGGGTGGGATTCCGGTCCCAAGCCCTTCATGAGGGTGCTGGCCGCGCCCCGCGTACCCCCTCGCTGATCCCCGCTCCCTTCTCCCACAGGCTGTCGAGAAACGGCGTTTATCTTCGCTATCACCTCCGCCGGGGTCACCCATTCGGTGGCGCGCTCCTGCTCAGAAGGTTCCATCGAATCCTGCACGTGTGACTACCGGCGGCGCGGCCCCGGGGGCCCCGACTGGCACTGGGGGGGCTGCAGCGACAACATTGACTTCGGCCGCCTCTTCGGCCGGGAGTTCGTGGACTCCGGGGAGAAGGGGCGGGACCTGCGCTTCCTCATGAACCTTCACAACAACGAGGCAGGCCGTACGGTGAGCTTTGA
|
GTGTGGTGGTGGGGCATGATAACCAGGCTGGCAGTGCCCCCTATTCCCCATATAGGGAAAAGCAGCCACTTTTTTTTTTTTTTTCAGATGAAGTCTTGCTCTGTAGCCCAGACTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAATCTCCACCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGCGCCACCACACTCAGCTAATTTTTGTATTTTTATTAGAGATGGGATTCCACTATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCGGGGATTATAGGCATGAGCCACCGCGCCCAGCCTGTCACTTCTTCAATAGGAGGCCTAAATGGCCTTGAAGCTGAGTAGGAGTCCCTGGGAGAGAAGAGAAAAGTGTACAATGGATGAGATGGTCACAGGCACTCTGGGTATCCCAGTGTGGTGGGAACTAGAGCTTTAGGGAAAGACAGAAACTTGGCAGAAACATCCAAAGAGAAGCAAACACATGGAGGCACAAGTTTCCTCATCTAGGTTCAATGTAGCCAGCAACCCTTGTCTTCCCAGTCCTCTCCATCACCATACATACAGTGGACATCCGCACCATTTCCCATCCTTTCTGAGCCTAGGCCTCAGAGACTTAGCCACTCCAGGCTGGGTTCACCTCAATACCATCTTGGTTGTAGGCTCGGCTCTCTCCCCCAATGACATGCACTGGTTGACACATACCACAGTGTGACACGCCATAGGATGCCACGAGGTACAAAGGGCAACAGAATGACGCATACACACATATTTAATCTTCCCATGCACATGCTCATCCACCCACTCCACACACAGTCCAGACACTCTGCATCCCTCAATCATGCTTCTGAGTCTCCTGTCGACAGTTGCCACCTCCTTCCTGACACACTGCCCCAGGCGGTGACTGTGACAAGGTGACTCCATGACCTTTTCTGACTTGAGCTAAATTCCAAAATTCTTTGGAAAGTTTCCTAACATCCTTCGTCAGAACAAGGAGTTTCTGCACGTACCAACACACAGGAGGATGCACCCTCAGAACACAGCACATTCTCACTCCCACCCATATTCACGTTGTTCCACTTCACACACACACACACACACACACACACACACAGCCACTTGTGCGCTTCTTCTGGCGCACATGAGCAAACTGCCTGTTGCTTTAGGTTTCTCTCCACCGCTAGGCTCCTTTTGGTTAGCTCACCCCCACAACTCATCCCCGGGATTTCCCTGACCACAGCCGCACTCACGCCCCCGTCTCCCCTTTTTCCTTCTCTGTCCAGCCATCGGGGGTTCCTGGGCGGTTAAGCATCTCCCCGGAGTCGCTGCCCAGAACCACAGCTTTCCTTCCGACACTCAGGATGGGGGAGAGAGGGGACGTCGGAGGGGCCCGGGGTGACGTCGAGGGGACAACCCCACCGCGGGCGGCGAGGCGGGCTGGGCCCCTGGCGGGCTCTCCCCGCAGCACACTCTCGCCGCGCCCCCTGGCGGATGCTAGTCCTCGACGGGCTCCGGACGCTCAGCTGAGTGAGGCGGGCGCGCGTGGGAGGGTGTCCCAAGGGGAGGGGTCCGCGGCCAGTGCAGGCCCGGAGGCGGGGGCCACCGGGCAGGGGGCGGGGGTGAGCCCCGACGGCCAACCCGTCAGCTCTCGGCTCAGACGGGCGGGAACCACAGCCCCGCTCGCTGCCCATTGTCTGCGCCCCTAACCGGTGCGCCCTGGTGCCACAGTGCGGCCCGGAGGGGCAGCCTCCTCCCGTCACTTCAGCCAGCGCCGCAACTATAAGAGGCGGTGCCGCCCGCCGTGGCCGCCTCAGCCCACCAGCCGGGACCGCGAGCCATGCTGTCCGCCGCCCGCCCCCAGGGTTGTTAAAGCCAGACTGCGAACTCTCGCCACTGCCGCCACCGCCGCGTCCCGTCCCACCGTCGCGGGCAACAACCAAAGTCGCCGCAACTGCAGCACAGAGCGGGCAAAGCCAGGCAGGCCATAGGGCTCTGGGCGCTGTTGCCTGGCTGGGTTTCTGCTACGCTGCTGCTGGCGCTGGCCGCTCTGCCCGCAGCCCTGGCTGCCAACAGCAGTGGCCGATGGTGGTAAGTGAGCTGGTGCGGGGTCGCCACTTGTCCCGCGGCACAGAGCCAGGGGCCAACCCTACCCAGCTCCCACGCTCTGGGATCCGTCTGCCGACAGGCTCCCTCCCCGCTCTGACTTCCCTCCGCGACACCGAAGGGCGATCTGGCATGAAACTGCCCCAGACTCCAGCTCTGTACAAGTGGGGCGAATGATCCGCCCGCGGAGGCCTAAGATACCCCAGGCAGGGAGCCCACTCTCATCTAGCACCGCCCTTCCCCTTTGAGCGCCAACTCCAGCCTCACGGCGGTGGCTCACCACAGGTTTCCCCACCTCGGGAAGTGAAGGGCCAGGAGTTCGCCTAGAAAGGAGGGGAGAAGAGGGTGGGACTCCTAAGCATTTCACGCCTTGGGTGGGCAAGAACTGCAGGCCATGATTATCTCGCTCAGGCTGACCGGAAGAGGCTCGGAGATCCAAGGTAGACACTCGGTCTCCGGGTACCTCCTCTGTCCAGTCTCCGGACCTAGGGCTCAGGCGAGCAGCCCTGGGACTACTGGGCACACACAAGTCTGGACGCCCAGTTCTTTCAAATTAGTGAGCCTGGGAGAGCGGGTATTATTAATCTCCCGCCATTCTCTCCAGCCACATACCCCCAGGAAGAGGACCGGGTGGCACAGTTTTTATGGTTAGGGTGCGGATCCCCTTCCTGAGCCTGAGCTATCATACGTCCCACCAGGGGTATTGTGAACGTAGCCTCCTCCACGAACCTGCTTACAGACTCCAAGAGTCTGCAACTGGTACTCGAGCCCAGTCTGCAGCTGTTGAGCCGCAAACAGCGGCGTCTGATACGCCAAAATCCGGGGATCCTGCACAGCGTGAGTGGGGGGCTGCAGAGTGCCGTGCGCGAGTGCAAGTGGCAGTTCCGGAATCGCCGCTGGAACTGTCCCACTGCTCCAGGGCCCCACCTCTTCGGCAAGATCGTCAACCGAGGTGGGTGCCCAGGAAGGCGACGCTTCCGGGAGCAGGGGAAACGCGGGGTCACCCCCAGGGCATGGGCGGGCGAGTTCAGAGAAGGTGTCCCAGGCGCCTGGAGGGTCACACAATCAACCTTGCCAAGTGCCTCGTGCCCAGCGCCAGCTCGGGGCCAGACTTCTACCAGGCGTTTTCCAGCCGTGCACCCTGGAAACGAAGCTTAACTTTTCTGAGCTACTGCCCCAGATAAAGAAAGTTTCGGGTCGCGGACGCCGGCTGACCGCCGCTTTCCCCCAGCCTCTCTCAAAAGCGCCTGGGAAGCTGCTCTCTGCAGGCGTGTGTCTGGCCTCTCGCCCAGCAAGGCTTGCACCGCCAAAATGGGCCGAAAGTTTTGGGCTGCGAAGAAGTCTTGGGGATGTATGGTTCTTCCGCTCCCCTCTCTTCGGTTTGTCTCTCTGGGGCTGCTCCACTTCCGCTATCGAGCCAAAATGCGCCCTAGAATCTCCCAGTAAGGTGTGATTACGCCCGTGGACGTGGCTGCGTGCCCACGCACCTGCTTTCTCTACTAGCCCTAGAGACCAGCTTTCCAGCACTGCCGGCCCTGGCTCTCAGGACTCAAAGTGCGGAGTCGGGGGTGGGATTCCGGTCCCAAGCCCTTCATGAGGGTGCTGGCCGCGCCCCGCGTACCCCCTCGCTGATCCCCGCTCCCTTCTCCCACAGGCTGTCGAGAAACGGCGTTTATCTTCGCTATCACCTCCGCCGGGGTCACCCATTCGGTGGCGCGCTCCTGCTCAGAAGGTTCCATCGAATCCTGCACGTGTGACTACCGGCGGCGCGGCCCCGGGGGCCCCGACTGGCACTGGGGGGGCTGCAGCGACAACATTGACTTCGGCCGCCTCTTCGGCCGGGAGTTCGTGGACTCCGGGGAGAAGGGGCGGGACCTGCGCTTCCTCATGAACCTTCACAACAACGAGGCAGGCCGTACGGTGAGCTTTGA
|
Task1_train_17550
|
The variant affects gene KMT2D (lysine methyltransferase 2D), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
|
Pathogenic; Branchial cleft anomaly
|
CCCGCGCTGACACTAAGCTCCCCCACCCCCACATCACCACCCCTTCCCACCAGACCAGCAGCAGTTTGGTGACTGAGGGAAAGTGGGAGCTCCGGGCCACACCCTGCCTCACTAGGTATGGGCATGCCACTCAGGGATAGCCCTCACCCTACCCCCCACCCAACCCGTCCAGGGGCTGGAGGGCAAACAGGCTCATGATGAGGTTGGGAAAACAGGAGGGAGATATCCTGGTCCTAGGTTTAGCTCCCTCCTGCCCCCATGTCCAGATGGAGAAGGAAGTCCTAGAGCAACTAGGGGCCAGTCATCCCCAATCTTCATCATCATTTGCCTCAACCACCATCCCATGCCCATAATTAAAAACAAAGATGGATTTTTTGTTGTTGTTTTTCTTCCTCCTCCTACCCCCCTTCCACCCACTCAGAAGAGGGCAGTGAGGTGGGGGAGAGGGTTGGGGCAGTAGGGGGCTTGGAGAGGGTCTCACATTTCAAAACAGCAAAAAATCCAACACTTAAATGAGGTAGGTGTGGGTGCGGGGTCTCCTTGCCCGGCTTGCCCAGCTTGCCCTCCTAGGCAGCTGGGCGCCTCTTTCCCGTTCATGTTGCATTTGTCAGAGTGGAAAACAAGGAAACACAACCCATAGAGAGACAGAAACACAGAGGAAAAGAGGGAAACAGAGACAGATCAAGAGGGAGGGGGATGGGGGTGAGGGTGGGGGCAGGACCCGGCAGGCAGGGCCAGGTGTGGGACCCGGCCTTTGGGATTGTCAAGCTTAGTCAAGTCTCTTTGCAGCCGTGAGTTGGGCCGGAGAGGTCAGTGGGAGCAGCAGGGCTGTGAGGCCCGGCCACACATCCTCTTCCCCCACCCTGCTGCCTCCCAGATGCTTCTGGGTAGTTCCCGGCCCATATCCCCCTCAAACCTGAGATGCCCAATGGCTGCTTCTGTCTGGCCCCTCCTGGAGCTGGGGGCAGAGATGCCAGCCTGAGGGCCGGTGGTGGGGAAGAGGATTGTCCCTGGTGCCCAGGGTGGGCTTGGCCTAGGGCCCTCTGCCCCAGCCTCCTGCTCCAGGGGCTCCGGGTCAGCCGGCAGCCCCAACCCTGGGTCCTGGCTCTGGCTGCTACCTCTCTTCCCCCTCATCCCTTTCAGGGAAGAGGTTGTGGGTAGGGGGACTCCCCTGCCTGGTAGCCTCAAAGCTTCTTAGTTCATCCATTTCCGACAATTCCAGGCTCCACAGTGGCAGGGGATCTTGTGCTGATCGTCCTCAAAATCAAACTGATAGTCATAGGTTAGCTGAAAAGAGAAGAGGGCAGAATCAATGCTAGTCCCCCACAGGAAGAGGGGAGGCCAGAGAAGATATGATCTGAGGTGCCCAGCCTAGGAATCCACATTTAGGGAATGGCAGAGAAGGGGTGAAAGGAGGAGGAGCTGCTTTGTCACTCAGTCAGGATACTTCCTCTCACCTCCTCTCCTTTGGGGATTCGCCGGCTGGAGATGATGATGATTTTGTCCTCTTTGTCAAATGTCACGACTTCGGCCACACAGTTAGGGGCACAGGAATGGTTAATGTACCTGGGCAGTGGGACAGAGTCAGGGATGTCAGGCAACTAACTTGGGACAATTTTGATTCCTTGTTCGTCTATCCCCCAGAGTGCCACTCTCAGGGACCACTAAATCCCTCCTTCCTCGTCATCTCTCACCTGGCAGGGCCGCCGGTCAACGTAGCATCAATCACATGTTCATTGTTTATTCGGAACATGTAGATGCCTCGATTCTAGAAAGGCAGAGGTTGCAGAAGAAGGGACAAGAGTATCAGAGAGTGGCAGTGGTGGCTGTGGGATCAGGTAGGAGACTCAGGCAGTGGGGGCTTTTGTTGCATGTACTTCATTTCTCCTGCCTTTCCCTTCTCCCCACCACAGCTTTCCTCCTGCTCTCCTGTGACCAATCCTGCCCTTGCTCCTTGGTTGAGTGCAGACTATGCACCACAATGGCCCCTCTGCCAGCTCATACCTGCTCTTCGTAGATTTTCTCCCGCCGGTTGGCCACCTCGTTCCGAATGATGGTGCCAATGTACTCGATAACCATTGTGTGCTTTTCTAGGTCCTTGGCTGCATAGAGCCCCAGGCCCTGGATACGGGAGCGAGCCAGGTACACGTTGTTCTTCCATTCGGTGCGCAGCCGCCGGTACTGAGATGACTTGGAGTGCACAAACTGCTTGCTGTAGGGGGTGTTGGTCTCGCCTGTGAAGGTGCTCTGATATGCCTTAGACATGCTGGTGCTGTTCAGGGTATGGGGCCTGGGAGGTGATATAATCCATGACAAGACAGCTCTCCCTCAGACCAAGTACATACCACCCACCTCCTCTGCCACCTCCTGGGATGTGCAACACACCAGTTAGGGGCGTGTGCTGCTGGCAAGCACTGGAAGTGCAGCCTTGGGAAAGGAGTAGAGGCAACTGGGTCTCAGCTCTGGTGAGGAAGCAACTAGCTACAGGGACCCTTCTGACACCCTGGGTGGCACAGAGAGCCCAGGGTGAGGGGTGGGGTGTGGAGGGAGATGGGGGGCACCAATTCCCCTACACTGAGCCTGTTCTCCCATCTCCCACTTCCTACCACTCTCCTGCCAAACCATTCTCAAGGCCATGCTCCTCTGGGAAGTTTTCCGCAAGCAGCCCAGGCCTAGAATTTAAGCTGATGGTTTGCTTGAATGTCTGAATCCTACCTCCTGCACATACTGGAAGCCCTGAAAATGGGGACTGTGCCTACCACGCTGGGCTAGATTTGAATTAAAACTGGCTGTGAACTCACAGCCTAAAGGTGGTATCCTTTCTTCGGACTGTCCCCTTCTCTGACATAACATTGGGCTCTGTGCAGATGGCTCAGTGCAGGGGAATGACGGCTGCCTGGCAGGATGCCTTTTACCACCTTAGGGCACCAGCCAAATTCTTGCCATCCCAGAGCAGTGGTTTTCAAACGTTTCTGGTTCTTTTTTTATTTAGCAGAAATCTTTGCTTTTTTCTTTAACAAAATGTTGACTGGAACTCCAATACATAAACTAGATGACAATGGAGCTCTTCTGGTTTAATCCAATTTGGGGAAGGAAGAGATATGCATGGGAAGGAAAAGTTCAACCCATCAGTTTAAGTGATCCAGGACTTTTTGGAACACAGGCACTCACAGTTTGAAAACCACCATTGCAGGGCATCAAGGACAAGGCTGGCTAGGGATGGAGAGTCTCTGACATTCTACAACAGCCTAGGAGCCACCAAAGACCTTCGAGAAAGCCCTGCTACCACAGATTCTGCCTCCCTCTACCCAGGGACTAAGGTCCCTGGTACACAGAAAGAACAAGGACCTGCAGTGAAGAAGTAAGGGTCTGGTCCCAGCTGTGTGACCTTTGCCTAGTCATTTAATCTTTCTGGGTCTCAGTTTTCTCAGCTGTAAAATGGGGGTCATACCACCTGCCCTACCTACCTCATAAGGTTGTTGTGAGGATCAAATGAGATAATGGATGTGAAAACGCTTTGAAAAAAAAAGTATAAAGTGCTATACAAATGTAAGGTTTTATTATTTTTCTATTATATCTCTAACTATTTATTTTTGACACCAACACTCATGGGGAAGGGAAGGTGACCCTAGCACCCATGGGGTATCTGAGGTTTGGGAGAATCACAGGCCCTCCCCCAGAAGTAAAACAGGAGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATA
|
CCCGCGCTGACACTAAGCTCCCCCACCCCCACATCACCACCCCTTCCCACCAGACCAGCAGCAGTTTGGTGACTGAGGGAAAGTGGGAGCTCCGGGCCACACCCTGCCTCACTAGGTATGGGCATGCCACTCAGGGATAGCCCTCACCCTACCCCCCACCCAACCCGTCCAGGGGCTGGAGGGCAAACAGGCTCATGATGAGGTTGGGAAAACAGGAGGGAGATATCCTGGTCCTAGGTTTAGCTCCCTCCTGCCCCCATGTCCAGATGGAGAAGGAAGTCCTAGAGCAACTAGGGGCCAGTCATCCCCAATCTTCATCATCATTTGCCTCAACCACCATCCCATGCCCATAATTAAAAACAAAGATGGATTTTTTGTTGTTGTTTTTCTTCCTCCTCCTACCCCCCTTCCACCCACTCAGAAGAGGGCAGTGAGGTGGGGGAGAGGGTTGGGGCAGTAGGGGGCTTGGAGAGGGTCTCACATTTCAAAACAGCAAAAAATCCAACACTTAAATGAGGTAGGTGTGGGTGCGGGGTCTCCTTGCCCGGCTTGCCCAGCTTGCCCTCCTAGGCAGCTGGGCGCCTCTTTCCCGTTCATGTTGCATTTGTCAGAGTGGAAAACAAGGAAACACAACCCATAGAGAGACAGAAACACAGAGGAAAAGAGGGAAACAGAGACAGATCAAGAGGGAGGGGGATGGGGGTGAGGGTGGGGGCAGGACCCGGCAGGCAGGGCCAGGTGTGGGACCCGGCCTTTGGGATTGTCAAGCTTAGTCAAGTCTCTTTGCAGCCGTGAGTTGGGCCGGAGAGGTCAGTGGGAGCAGCAGGGCTGTGAGGCCCGGCCACACATCCTCTTCCCCCACCCTGCTGCCTCCCAGATGCTTCTGGGTAGTTCCCGGCCCATATCCCCCTCAAACCTGAGATGCCCAATGGCTGCTTCTGTCTGGCCCCTCCTGGAGCTGGGGGCAGAGATGCCAGCCTGAGGGCCGGTGGTGGGGAAGAGGATTGTCCCTGGTGCCCAGGGTGGGCTTGGCCTAGGGCCCTCTGCCCCAGCCTCCTGCTCCAGGGGCTCCGGGTCAGCCGGCAGCCCCAACCCTGGGTCCTGGCTCTGGCTGCTACCTCTCTTCCCCCTCATCCCTTTCAGGGAAGAGGTTGTGGGTAGGGGGACTCCCCTGCCTGGTAGCCTCAAAGCTTCTTAGTTCATCCATTTCCGACAATTCCAGGCTCCACAGTGGCAGGGGATCTTGTGCTGATCGTCCTCAAAATCAAACTGATAGTCATAGGTTAGCTGAAAAGAGAAGAGGGCAGAATCAATGCTAGTCCCCCACAGGAAGAGGGGAGGCCAGAGAAGATATGATCTGAGGTGCCCAGCCTAGGAATCCACATTTAGGGAATGGCAGAGAAGGGGTGAAAGGAGGAGGAGCTGCTTTGTCACTCAGTCAGGATACTTCCTCTCACCTCCTCTCCTTTGGGGATTCGCCGGCTGGAGATGATGATGATTTTGTCCTCTTTGTCAAATGTCACGACTTCGGCCACACAGTTAGGGGCACAGGAATGGTTAATGTACCTGGGCAGTGGGACAGAGTCAGGGATGTCAGGCAACTAACTTGGGACAATTTTGATTCCTTGTTCGTCTATCCCCCAGAGTGCCACTCTCAGGGACCACTAAATCCCTCCTTCCTCGTCATCTCTCACCTGGCAGGGCCGCCGGTCAACGTAGCATCAATCACATGTTCATTGTTTATTCGGAACATGTAGATGCCTCGATTCTAGAAAGGCAGAGGTTGCAGAAGAAGGGACAAGAGTATCAGAGAGTGGCAGTGGTGGCTGTGGGATCAGGTAGGAGACTCAGGCAGTGGGGGCTTTTGTTGCATGTACTTCATTTCTCCTGCCTTTCCCTTCTCCCCACCACAGCTTTCCTCCTGCTCTCCTGTGACCAATCCTGCCCTTGCTCCTTGGTTGAGTGCAGACTATGCACCACAATGGCCCCTCTGCCAGCTCATACCTGCTCTTCGTAGATTTTCTCCCGCCGGTTGGCCACCTCGTTCCAAATGATGGTGCCAATGTACTCGATAACCATTGTGTGCTTTTCTAGGTCCTTGGCTGCATAGAGCCCCAGGCCCTGGATACGGGAGCGAGCCAGGTACACGTTGTTCTTCCATTCGGTGCGCAGCCGCCGGTACTGAGATGACTTGGAGTGCACAAACTGCTTGCTGTAGGGGGTGTTGGTCTCGCCTGTGAAGGTGCTCTGATATGCCTTAGACATGCTGGTGCTGTTCAGGGTATGGGGCCTGGGAGGTGATATAATCCATGACAAGACAGCTCTCCCTCAGACCAAGTACATACCACCCACCTCCTCTGCCACCTCCTGGGATGTGCAACACACCAGTTAGGGGCGTGTGCTGCTGGCAAGCACTGGAAGTGCAGCCTTGGGAAAGGAGTAGAGGCAACTGGGTCTCAGCTCTGGTGAGGAAGCAACTAGCTACAGGGACCCTTCTGACACCCTGGGTGGCACAGAGAGCCCAGGGTGAGGGGTGGGGTGTGGAGGGAGATGGGGGGCACCAATTCCCCTACACTGAGCCTGTTCTCCCATCTCCCACTTCCTACCACTCTCCTGCCAAACCATTCTCAAGGCCATGCTCCTCTGGGAAGTTTTCCGCAAGCAGCCCAGGCCTAGAATTTAAGCTGATGGTTTGCTTGAATGTCTGAATCCTACCTCCTGCACATACTGGAAGCCCTGAAAATGGGGACTGTGCCTACCACGCTGGGCTAGATTTGAATTAAAACTGGCTGTGAACTCACAGCCTAAAGGTGGTATCCTTTCTTCGGACTGTCCCCTTCTCTGACATAACATTGGGCTCTGTGCAGATGGCTCAGTGCAGGGGAATGACGGCTGCCTGGCAGGATGCCTTTTACCACCTTAGGGCACCAGCCAAATTCTTGCCATCCCAGAGCAGTGGTTTTCAAACGTTTCTGGTTCTTTTTTTATTTAGCAGAAATCTTTGCTTTTTTCTTTAACAAAATGTTGACTGGAACTCCAATACATAAACTAGATGACAATGGAGCTCTTCTGGTTTAATCCAATTTGGGGAAGGAAGAGATATGCATGGGAAGGAAAAGTTCAACCCATCAGTTTAAGTGATCCAGGACTTTTTGGAACACAGGCACTCACAGTTTGAAAACCACCATTGCAGGGCATCAAGGACAAGGCTGGCTAGGGATGGAGAGTCTCTGACATTCTACAACAGCCTAGGAGCCACCAAAGACCTTCGAGAAAGCCCTGCTACCACAGATTCTGCCTCCCTCTACCCAGGGACTAAGGTCCCTGGTACACAGAAAGAACAAGGACCTGCAGTGAAGAAGTAAGGGTCTGGTCCCAGCTGTGTGACCTTTGCCTAGTCATTTAATCTTTCTGGGTCTCAGTTTTCTCAGCTGTAAAATGGGGGTCATACCACCTGCCCTACCTACCTCATAAGGTTGTTGTGAGGATCAAATGAGATAATGGATGTGAAAACGCTTTGAAAAAAAAAGTATAAAGTGCTATACAAATGTAAGGTTTTATTATTTTTCTATTATATCTCTAACTATTTATTTTTGACACCAACACTCATGGGGAAGGGAAGGTGACCCTAGCACCCATGGGGTATCTGAGGTTTGGGAGAATCACAGGCCCTCCCCCAGAAGTAAAACAGGAGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATA
|
Task1_train_17551
|
A variant was discovered on Chromosome 12, affecting KMT2D (lysine methyltransferase 2D). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
|
Pathogenic; KMT2D-related disorder
|
CCCGCGCTGACACTAAGCTCCCCCACCCCCACATCACCACCCCTTCCCACCAGACCAGCAGCAGTTTGGTGACTGAGGGAAAGTGGGAGCTCCGGGCCACACCCTGCCTCACTAGGTATGGGCATGCCACTCAGGGATAGCCCTCACCCTACCCCCCACCCAACCCGTCCAGGGGCTGGAGGGCAAACAGGCTCATGATGAGGTTGGGAAAACAGGAGGGAGATATCCTGGTCCTAGGTTTAGCTCCCTCCTGCCCCCATGTCCAGATGGAGAAGGAAGTCCTAGAGCAACTAGGGGCCAGTCATCCCCAATCTTCATCATCATTTGCCTCAACCACCATCCCATGCCCATAATTAAAAACAAAGATGGATTTTTTGTTGTTGTTTTTCTTCCTCCTCCTACCCCCCTTCCACCCACTCAGAAGAGGGCAGTGAGGTGGGGGAGAGGGTTGGGGCAGTAGGGGGCTTGGAGAGGGTCTCACATTTCAAAACAGCAAAAAATCCAACACTTAAATGAGGTAGGTGTGGGTGCGGGGTCTCCTTGCCCGGCTTGCCCAGCTTGCCCTCCTAGGCAGCTGGGCGCCTCTTTCCCGTTCATGTTGCATTTGTCAGAGTGGAAAACAAGGAAACACAACCCATAGAGAGACAGAAACACAGAGGAAAAGAGGGAAACAGAGACAGATCAAGAGGGAGGGGGATGGGGGTGAGGGTGGGGGCAGGACCCGGCAGGCAGGGCCAGGTGTGGGACCCGGCCTTTGGGATTGTCAAGCTTAGTCAAGTCTCTTTGCAGCCGTGAGTTGGGCCGGAGAGGTCAGTGGGAGCAGCAGGGCTGTGAGGCCCGGCCACACATCCTCTTCCCCCACCCTGCTGCCTCCCAGATGCTTCTGGGTAGTTCCCGGCCCATATCCCCCTCAAACCTGAGATGCCCAATGGCTGCTTCTGTCTGGCCCCTCCTGGAGCTGGGGGCAGAGATGCCAGCCTGAGGGCCGGTGGTGGGGAAGAGGATTGTCCCTGGTGCCCAGGGTGGGCTTGGCCTAGGGCCCTCTGCCCCAGCCTCCTGCTCCAGGGGCTCCGGGTCAGCCGGCAGCCCCAACCCTGGGTCCTGGCTCTGGCTGCTACCTCTCTTCCCCCTCATCCCTTTCAGGGAAGAGGTTGTGGGTAGGGGGACTCCCCTGCCTGGTAGCCTCAAAGCTTCTTAGTTCATCCATTTCCGACAATTCCAGGCTCCACAGTGGCAGGGGATCTTGTGCTGATCGTCCTCAAAATCAAACTGATAGTCATAGGTTAGCTGAAAAGAGAAGAGGGCAGAATCAATGCTAGTCCCCCACAGGAAGAGGGGAGGCCAGAGAAGATATGATCTGAGGTGCCCAGCCTAGGAATCCACATTTAGGGAATGGCAGAGAAGGGGTGAAAGGAGGAGGAGCTGCTTTGTCACTCAGTCAGGATACTTCCTCTCACCTCCTCTCCTTTGGGGATTCGCCGGCTGGAGATGATGATGATTTTGTCCTCTTTGTCAAATGTCACGACTTCGGCCACACAGTTAGGGGCACAGGAATGGTTAATGTACCTGGGCAGTGGGACAGAGTCAGGGATGTCAGGCAACTAACTTGGGACAATTTTGATTCCTTGTTCGTCTATCCCCCAGAGTGCCACTCTCAGGGACCACTAAATCCCTCCTTCCTCGTCATCTCTCACCTGGCAGGGCCGCCGGTCAACGTAGCATCAATCACATGTTCATTGTTTATTCGGAACATGTAGATGCCTCGATTCTAGAAAGGCAGAGGTTGCAGAAGAAGGGACAAGAGTATCAGAGAGTGGCAGTGGTGGCTGTGGGATCAGGTAGGAGACTCAGGCAGTGGGGGCTTTTGTTGCATGTACTTCATTTCTCCTGCCTTTCCCTTCTCCCCACCACAGCTTTCCTCCTGCTCTCCTGTGACCAATCCTGCCCTTGCTCCTTGGTTGAGTGCAGACTATGCACCACAATGGCCCCTCTGCCAGCTCATACCTGCTCTTCGTAGATTTTCTCCCGCCGGTTGGCCACCTCGTTCCGAATGATGGTGCCAATGTACTCGATAACCATTGTGTGCTTTTCTAGGTCCTTGGCTGCATAGAGCCCCAGGCCCTGGATACGGGAGCGAGCCAGGTACACGTTGTTCTTCCATTCGGTGCGCAGCCGCCGGTACTGAGATGACTTGGAGTGCACAAACTGCTTGCTGTAGGGGGTGTTGGTCTCGCCTGTGAAGGTGCTCTGATATGCCTTAGACATGCTGGTGCTGTTCAGGGTATGGGGCCTGGGAGGTGATATAATCCATGACAAGACAGCTCTCCCTCAGACCAAGTACATACCACCCACCTCCTCTGCCACCTCCTGGGATGTGCAACACACCAGTTAGGGGCGTGTGCTGCTGGCAAGCACTGGAAGTGCAGCCTTGGGAAAGGAGTAGAGGCAACTGGGTCTCAGCTCTGGTGAGGAAGCAACTAGCTACAGGGACCCTTCTGACACCCTGGGTGGCACAGAGAGCCCAGGGTGAGGGGTGGGGTGTGGAGGGAGATGGGGGGCACCAATTCCCCTACACTGAGCCTGTTCTCCCATCTCCCACTTCCTACCACTCTCCTGCCAAACCATTCTCAAGGCCATGCTCCTCTGGGAAGTTTTCCGCAAGCAGCCCAGGCCTAGAATTTAAGCTGATGGTTTGCTTGAATGTCTGAATCCTACCTCCTGCACATACTGGAAGCCCTGAAAATGGGGACTGTGCCTACCACGCTGGGCTAGATTTGAATTAAAACTGGCTGTGAACTCACAGCCTAAAGGTGGTATCCTTTCTTCGGACTGTCCCCTTCTCTGACATAACATTGGGCTCTGTGCAGATGGCTCAGTGCAGGGGAATGACGGCTGCCTGGCAGGATGCCTTTTACCACCTTAGGGCACCAGCCAAATTCTTGCCATCCCAGAGCAGTGGTTTTCAAACGTTTCTGGTTCTTTTTTTATTTAGCAGAAATCTTTGCTTTTTTCTTTAACAAAATGTTGACTGGAACTCCAATACATAAACTAGATGACAATGGAGCTCTTCTGGTTTAATCCAATTTGGGGAAGGAAGAGATATGCATGGGAAGGAAAAGTTCAACCCATCAGTTTAAGTGATCCAGGACTTTTTGGAACACAGGCACTCACAGTTTGAAAACCACCATTGCAGGGCATCAAGGACAAGGCTGGCTAGGGATGGAGAGTCTCTGACATTCTACAACAGCCTAGGAGCCACCAAAGACCTTCGAGAAAGCCCTGCTACCACAGATTCTGCCTCCCTCTACCCAGGGACTAAGGTCCCTGGTACACAGAAAGAACAAGGACCTGCAGTGAAGAAGTAAGGGTCTGGTCCCAGCTGTGTGACCTTTGCCTAGTCATTTAATCTTTCTGGGTCTCAGTTTTCTCAGCTGTAAAATGGGGGTCATACCACCTGCCCTACCTACCTCATAAGGTTGTTGTGAGGATCAAATGAGATAATGGATGTGAAAACGCTTTGAAAAAAAAAGTATAAAGTGCTATACAAATGTAAGGTTTTATTATTTTTCTATTATATCTCTAACTATTTATTTTTGACACCAACACTCATGGGGAAGGGAAGGTGACCCTAGCACCCATGGGGTATCTGAGGTTTGGGAGAATCACAGGCCCTCCCCCAGAAGTAAAACAGGAGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATA
|
CCCGCGCTGACACTAAGCTCCCCCACCCCCACATCACCACCCCTTCCCACCAGACCAGCAGCAGTTTGGTGACTGAGGGAAAGTGGGAGCTCCGGGCCACACCCTGCCTCACTAGGTATGGGCATGCCACTCAGGGATAGCCCTCACCCTACCCCCCACCCAACCCGTCCAGGGGCTGGAGGGCAAACAGGCTCATGATGAGGTTGGGAAAACAGGAGGGAGATATCCTGGTCCTAGGTTTAGCTCCCTCCTGCCCCCATGTCCAGATGGAGAAGGAAGTCCTAGAGCAACTAGGGGCCAGTCATCCCCAATCTTCATCATCATTTGCCTCAACCACCATCCCATGCCCATAATTAAAAACAAAGATGGATTTTTTGTTGTTGTTTTTCTTCCTCCTCCTACCCCCCTTCCACCCACTCAGAAGAGGGCAGTGAGGTGGGGGAGAGGGTTGGGGCAGTAGGGGGCTTGGAGAGGGTCTCACATTTCAAAACAGCAAAAAATCCAACACTTAAATGAGGTAGGTGTGGGTGCGGGGTCTCCTTGCCCGGCTTGCCCAGCTTGCCCTCCTAGGCAGCTGGGCGCCTCTTTCCCGTTCATGTTGCATTTGTCAGAGTGGAAAACAAGGAAACACAACCCATAGAGAGACAGAAACACAGAGGAAAAGAGGGAAACAGAGACAGATCAAGAGGGAGGGGGATGGGGGTGAGGGTGGGGGCAGGACCCGGCAGGCAGGGCCAGGTGTGGGACCCGGCCTTTGGGATTGTCAAGCTTAGTCAAGTCTCTTTGCAGCCGTGAGTTGGGCCGGAGAGGTCAGTGGGAGCAGCAGGGCTGTGAGGCCCGGCCACACATCCTCTTCCCCCACCCTGCTGCCTCCCAGATGCTTCTGGGTAGTTCCCGGCCCATATCCCCCTCAAACCTGAGATGCCCAATGGCTGCTTCTGTCTGGCCCCTCCTGGAGCTGGGGGCAGAGATGCCAGCCTGAGGGCCGGTGGTGGGGAAGAGGATTGTCCCTGGTGCCCAGGGTGGGCTTGGCCTAGGGCCCTCTGCCCCAGCCTCCTGCTCCAGGGGCTCCGGGTCAGCCGGCAGCCCCAACCCTGGGTCCTGGCTCTGGCTGCTACCTCTCTTCCCCCTCATCCCTTTCAGGGAAGAGGTTGTGGGTAGGGGGACTCCCCTGCCTGGTAGCCTCAAAGCTTCTTAGTTCATCCATTTCCGACAATTCCAGGCTCCACAGTGGCAGGGGATCTTGTGCTGATCGTCCTCAAAATCAAACTGATAGTCATAGGTTAGCTGAAAAGAGAAGAGGGCAGAATCAATGCTAGTCCCCCACAGGAAGAGGGGAGGCCAGAGAAGATATGATCTGAGGTGCCCAGCCTAGGAATCCACATTTAGGGAATGGCAGAGAAGGGGTGAAAGGAGGAGGAGCTGCTTTGTCACTCAGTCAGGATACTTCCTCTCACCTCCTCTCCTTTGGGGATTCGCCGGCTGGAGATGATGATGATTTTGTCCTCTTTGTCAAATGTCACGACTTCGGCCACACAGTTAGGGGCACAGGAATGGTTAATGTACCTGGGCAGTGGGACAGAGTCAGGGATGTCAGGCAACTAACTTGGGACAATTTTGATTCCTTGTTCGTCTATCCCCCAGAGTGCCACTCTCAGGGACCACTAAATCCCTCCTTCCTCGTCATCTCTCACCTGGCAGGGCCGCCGGTCAACGTAGCATCAATCACATGTTCATTGTTTATTCGGAACATGTAGATGCCTCGATTCTAGAAAGGCAGAGGTTGCAGAAGAAGGGACAAGAGTATCAGAGAGTGGCAGTGGTGGCTGTGGGATCAGGTAGGAGACTCAGGCAGTGGGGGCTTTTGTTGCATGTACTTCATTTCTCCTGCCTTTCCCTTCTCCCCACCACAGCTTTCCTCCTGCTCTCCTGTGACCAATCCTGCCCTTGCTCCTTGGTTGAGTGCAGACTATGCACCACAATGGCCCCTCTGCCAGCTCATACCTGCTCTTCGTAGATTTTCTCCCGCCGGTTGGCCACCTCGTTCCAAATGATGGTGCCAATGTACTCGATAACCATTGTGTGCTTTTCTAGGTCCTTGGCTGCATAGAGCCCCAGGCCCTGGATACGGGAGCGAGCCAGGTACACGTTGTTCTTCCATTCGGTGCGCAGCCGCCGGTACTGAGATGACTTGGAGTGCACAAACTGCTTGCTGTAGGGGGTGTTGGTCTCGCCTGTGAAGGTGCTCTGATATGCCTTAGACATGCTGGTGCTGTTCAGGGTATGGGGCCTGGGAGGTGATATAATCCATGACAAGACAGCTCTCCCTCAGACCAAGTACATACCACCCACCTCCTCTGCCACCTCCTGGGATGTGCAACACACCAGTTAGGGGCGTGTGCTGCTGGCAAGCACTGGAAGTGCAGCCTTGGGAAAGGAGTAGAGGCAACTGGGTCTCAGCTCTGGTGAGGAAGCAACTAGCTACAGGGACCCTTCTGACACCCTGGGTGGCACAGAGAGCCCAGGGTGAGGGGTGGGGTGTGGAGGGAGATGGGGGGCACCAATTCCCCTACACTGAGCCTGTTCTCCCATCTCCCACTTCCTACCACTCTCCTGCCAAACCATTCTCAAGGCCATGCTCCTCTGGGAAGTTTTCCGCAAGCAGCCCAGGCCTAGAATTTAAGCTGATGGTTTGCTTGAATGTCTGAATCCTACCTCCTGCACATACTGGAAGCCCTGAAAATGGGGACTGTGCCTACCACGCTGGGCTAGATTTGAATTAAAACTGGCTGTGAACTCACAGCCTAAAGGTGGTATCCTTTCTTCGGACTGTCCCCTTCTCTGACATAACATTGGGCTCTGTGCAGATGGCTCAGTGCAGGGGAATGACGGCTGCCTGGCAGGATGCCTTTTACCACCTTAGGGCACCAGCCAAATTCTTGCCATCCCAGAGCAGTGGTTTTCAAACGTTTCTGGTTCTTTTTTTATTTAGCAGAAATCTTTGCTTTTTTCTTTAACAAAATGTTGACTGGAACTCCAATACATAAACTAGATGACAATGGAGCTCTTCTGGTTTAATCCAATTTGGGGAAGGAAGAGATATGCATGGGAAGGAAAAGTTCAACCCATCAGTTTAAGTGATCCAGGACTTTTTGGAACACAGGCACTCACAGTTTGAAAACCACCATTGCAGGGCATCAAGGACAAGGCTGGCTAGGGATGGAGAGTCTCTGACATTCTACAACAGCCTAGGAGCCACCAAAGACCTTCGAGAAAGCCCTGCTACCACAGATTCTGCCTCCCTCTACCCAGGGACTAAGGTCCCTGGTACACAGAAAGAACAAGGACCTGCAGTGAAGAAGTAAGGGTCTGGTCCCAGCTGTGTGACCTTTGCCTAGTCATTTAATCTTTCTGGGTCTCAGTTTTCTCAGCTGTAAAATGGGGGTCATACCACCTGCCCTACCTACCTCATAAGGTTGTTGTGAGGATCAAATGAGATAATGGATGTGAAAACGCTTTGAAAAAAAAAGTATAAAGTGCTATACAAATGTAAGGTTTTATTATTTTTCTATTATATCTCTAACTATTTATTTTTGACACCAACACTCATGGGGAAGGGAAGGTGACCCTAGCACCCATGGGGTATCTGAGGTTTGGGAGAATCACAGGCCCTCCCCCAGAAGTAAAACAGGAGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATA
|
Task1_train_17552
|
This gene mutation involves KMT2D (lysine methyltransferase 2D) on Chromosome 12. Is it associated with any clinical condition, or is it benign?
|
Pathogenic; Kabuki syndrome
|
CCCGCGCTGACACTAAGCTCCCCCACCCCCACATCACCACCCCTTCCCACCAGACCAGCAGCAGTTTGGTGACTGAGGGAAAGTGGGAGCTCCGGGCCACACCCTGCCTCACTAGGTATGGGCATGCCACTCAGGGATAGCCCTCACCCTACCCCCCACCCAACCCGTCCAGGGGCTGGAGGGCAAACAGGCTCATGATGAGGTTGGGAAAACAGGAGGGAGATATCCTGGTCCTAGGTTTAGCTCCCTCCTGCCCCCATGTCCAGATGGAGAAGGAAGTCCTAGAGCAACTAGGGGCCAGTCATCCCCAATCTTCATCATCATTTGCCTCAACCACCATCCCATGCCCATAATTAAAAACAAAGATGGATTTTTTGTTGTTGTTTTTCTTCCTCCTCCTACCCCCCTTCCACCCACTCAGAAGAGGGCAGTGAGGTGGGGGAGAGGGTTGGGGCAGTAGGGGGCTTGGAGAGGGTCTCACATTTCAAAACAGCAAAAAATCCAACACTTAAATGAGGTAGGTGTGGGTGCGGGGTCTCCTTGCCCGGCTTGCCCAGCTTGCCCTCCTAGGCAGCTGGGCGCCTCTTTCCCGTTCATGTTGCATTTGTCAGAGTGGAAAACAAGGAAACACAACCCATAGAGAGACAGAAACACAGAGGAAAAGAGGGAAACAGAGACAGATCAAGAGGGAGGGGGATGGGGGTGAGGGTGGGGGCAGGACCCGGCAGGCAGGGCCAGGTGTGGGACCCGGCCTTTGGGATTGTCAAGCTTAGTCAAGTCTCTTTGCAGCCGTGAGTTGGGCCGGAGAGGTCAGTGGGAGCAGCAGGGCTGTGAGGCCCGGCCACACATCCTCTTCCCCCACCCTGCTGCCTCCCAGATGCTTCTGGGTAGTTCCCGGCCCATATCCCCCTCAAACCTGAGATGCCCAATGGCTGCTTCTGTCTGGCCCCTCCTGGAGCTGGGGGCAGAGATGCCAGCCTGAGGGCCGGTGGTGGGGAAGAGGATTGTCCCTGGTGCCCAGGGTGGGCTTGGCCTAGGGCCCTCTGCCCCAGCCTCCTGCTCCAGGGGCTCCGGGTCAGCCGGCAGCCCCAACCCTGGGTCCTGGCTCTGGCTGCTACCTCTCTTCCCCCTCATCCCTTTCAGGGAAGAGGTTGTGGGTAGGGGGACTCCCCTGCCTGGTAGCCTCAAAGCTTCTTAGTTCATCCATTTCCGACAATTCCAGGCTCCACAGTGGCAGGGGATCTTGTGCTGATCGTCCTCAAAATCAAACTGATAGTCATAGGTTAGCTGAAAAGAGAAGAGGGCAGAATCAATGCTAGTCCCCCACAGGAAGAGGGGAGGCCAGAGAAGATATGATCTGAGGTGCCCAGCCTAGGAATCCACATTTAGGGAATGGCAGAGAAGGGGTGAAAGGAGGAGGAGCTGCTTTGTCACTCAGTCAGGATACTTCCTCTCACCTCCTCTCCTTTGGGGATTCGCCGGCTGGAGATGATGATGATTTTGTCCTCTTTGTCAAATGTCACGACTTCGGCCACACAGTTAGGGGCACAGGAATGGTTAATGTACCTGGGCAGTGGGACAGAGTCAGGGATGTCAGGCAACTAACTTGGGACAATTTTGATTCCTTGTTCGTCTATCCCCCAGAGTGCCACTCTCAGGGACCACTAAATCCCTCCTTCCTCGTCATCTCTCACCTGGCAGGGCCGCCGGTCAACGTAGCATCAATCACATGTTCATTGTTTATTCGGAACATGTAGATGCCTCGATTCTAGAAAGGCAGAGGTTGCAGAAGAAGGGACAAGAGTATCAGAGAGTGGCAGTGGTGGCTGTGGGATCAGGTAGGAGACTCAGGCAGTGGGGGCTTTTGTTGCATGTACTTCATTTCTCCTGCCTTTCCCTTCTCCCCACCACAGCTTTCCTCCTGCTCTCCTGTGACCAATCCTGCCCTTGCTCCTTGGTTGAGTGCAGACTATGCACCACAATGGCCCCTCTGCCAGCTCATACCTGCTCTTCGTAGATTTTCTCCCGCCGGTTGGCCACCTCGTTCCGAATGATGGTGCCAATGTACTCGATAACCATTGTGTGCTTTTCTAGGTCCTTGGCTGCATAGAGCCCCAGGCCCTGGATACGGGAGCGAGCCAGGTACACGTTGTTCTTCCATTCGGTGCGCAGCCGCCGGTACTGAGATGACTTGGAGTGCACAAACTGCTTGCTGTAGGGGGTGTTGGTCTCGCCTGTGAAGGTGCTCTGATATGCCTTAGACATGCTGGTGCTGTTCAGGGTATGGGGCCTGGGAGGTGATATAATCCATGACAAGACAGCTCTCCCTCAGACCAAGTACATACCACCCACCTCCTCTGCCACCTCCTGGGATGTGCAACACACCAGTTAGGGGCGTGTGCTGCTGGCAAGCACTGGAAGTGCAGCCTTGGGAAAGGAGTAGAGGCAACTGGGTCTCAGCTCTGGTGAGGAAGCAACTAGCTACAGGGACCCTTCTGACACCCTGGGTGGCACAGAGAGCCCAGGGTGAGGGGTGGGGTGTGGAGGGAGATGGGGGGCACCAATTCCCCTACACTGAGCCTGTTCTCCCATCTCCCACTTCCTACCACTCTCCTGCCAAACCATTCTCAAGGCCATGCTCCTCTGGGAAGTTTTCCGCAAGCAGCCCAGGCCTAGAATTTAAGCTGATGGTTTGCTTGAATGTCTGAATCCTACCTCCTGCACATACTGGAAGCCCTGAAAATGGGGACTGTGCCTACCACGCTGGGCTAGATTTGAATTAAAACTGGCTGTGAACTCACAGCCTAAAGGTGGTATCCTTTCTTCGGACTGTCCCCTTCTCTGACATAACATTGGGCTCTGTGCAGATGGCTCAGTGCAGGGGAATGACGGCTGCCTGGCAGGATGCCTTTTACCACCTTAGGGCACCAGCCAAATTCTTGCCATCCCAGAGCAGTGGTTTTCAAACGTTTCTGGTTCTTTTTTTATTTAGCAGAAATCTTTGCTTTTTTCTTTAACAAAATGTTGACTGGAACTCCAATACATAAACTAGATGACAATGGAGCTCTTCTGGTTTAATCCAATTTGGGGAAGGAAGAGATATGCATGGGAAGGAAAAGTTCAACCCATCAGTTTAAGTGATCCAGGACTTTTTGGAACACAGGCACTCACAGTTTGAAAACCACCATTGCAGGGCATCAAGGACAAGGCTGGCTAGGGATGGAGAGTCTCTGACATTCTACAACAGCCTAGGAGCCACCAAAGACCTTCGAGAAAGCCCTGCTACCACAGATTCTGCCTCCCTCTACCCAGGGACTAAGGTCCCTGGTACACAGAAAGAACAAGGACCTGCAGTGAAGAAGTAAGGGTCTGGTCCCAGCTGTGTGACCTTTGCCTAGTCATTTAATCTTTCTGGGTCTCAGTTTTCTCAGCTGTAAAATGGGGGTCATACCACCTGCCCTACCTACCTCATAAGGTTGTTGTGAGGATCAAATGAGATAATGGATGTGAAAACGCTTTGAAAAAAAAAGTATAAAGTGCTATACAAATGTAAGGTTTTATTATTTTTCTATTATATCTCTAACTATTTATTTTTGACACCAACACTCATGGGGAAGGGAAGGTGACCCTAGCACCCATGGGGTATCTGAGGTTTGGGAGAATCACAGGCCCTCCCCCAGAAGTAAAACAGGAGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATA
|
CCCGCGCTGACACTAAGCTCCCCCACCCCCACATCACCACCCCTTCCCACCAGACCAGCAGCAGTTTGGTGACTGAGGGAAAGTGGGAGCTCCGGGCCACACCCTGCCTCACTAGGTATGGGCATGCCACTCAGGGATAGCCCTCACCCTACCCCCCACCCAACCCGTCCAGGGGCTGGAGGGCAAACAGGCTCATGATGAGGTTGGGAAAACAGGAGGGAGATATCCTGGTCCTAGGTTTAGCTCCCTCCTGCCCCCATGTCCAGATGGAGAAGGAAGTCCTAGAGCAACTAGGGGCCAGTCATCCCCAATCTTCATCATCATTTGCCTCAACCACCATCCCATGCCCATAATTAAAAACAAAGATGGATTTTTTGTTGTTGTTTTTCTTCCTCCTCCTACCCCCCTTCCACCCACTCAGAAGAGGGCAGTGAGGTGGGGGAGAGGGTTGGGGCAGTAGGGGGCTTGGAGAGGGTCTCACATTTCAAAACAGCAAAAAATCCAACACTTAAATGAGGTAGGTGTGGGTGCGGGGTCTCCTTGCCCGGCTTGCCCAGCTTGCCCTCCTAGGCAGCTGGGCGCCTCTTTCCCGTTCATGTTGCATTTGTCAGAGTGGAAAACAAGGAAACACAACCCATAGAGAGACAGAAACACAGAGGAAAAGAGGGAAACAGAGACAGATCAAGAGGGAGGGGGATGGGGGTGAGGGTGGGGGCAGGACCCGGCAGGCAGGGCCAGGTGTGGGACCCGGCCTTTGGGATTGTCAAGCTTAGTCAAGTCTCTTTGCAGCCGTGAGTTGGGCCGGAGAGGTCAGTGGGAGCAGCAGGGCTGTGAGGCCCGGCCACACATCCTCTTCCCCCACCCTGCTGCCTCCCAGATGCTTCTGGGTAGTTCCCGGCCCATATCCCCCTCAAACCTGAGATGCCCAATGGCTGCTTCTGTCTGGCCCCTCCTGGAGCTGGGGGCAGAGATGCCAGCCTGAGGGCCGGTGGTGGGGAAGAGGATTGTCCCTGGTGCCCAGGGTGGGCTTGGCCTAGGGCCCTCTGCCCCAGCCTCCTGCTCCAGGGGCTCCGGGTCAGCCGGCAGCCCCAACCCTGGGTCCTGGCTCTGGCTGCTACCTCTCTTCCCCCTCATCCCTTTCAGGGAAGAGGTTGTGGGTAGGGGGACTCCCCTGCCTGGTAGCCTCAAAGCTTCTTAGTTCATCCATTTCCGACAATTCCAGGCTCCACAGTGGCAGGGGATCTTGTGCTGATCGTCCTCAAAATCAAACTGATAGTCATAGGTTAGCTGAAAAGAGAAGAGGGCAGAATCAATGCTAGTCCCCCACAGGAAGAGGGGAGGCCAGAGAAGATATGATCTGAGGTGCCCAGCCTAGGAATCCACATTTAGGGAATGGCAGAGAAGGGGTGAAAGGAGGAGGAGCTGCTTTGTCACTCAGTCAGGATACTTCCTCTCACCTCCTCTCCTTTGGGGATTCGCCGGCTGGAGATGATGATGATTTTGTCCTCTTTGTCAAATGTCACGACTTCGGCCACACAGTTAGGGGCACAGGAATGGTTAATGTACCTGGGCAGTGGGACAGAGTCAGGGATGTCAGGCAACTAACTTGGGACAATTTTGATTCCTTGTTCGTCTATCCCCCAGAGTGCCACTCTCAGGGACCACTAAATCCCTCCTTCCTCGTCATCTCTCACCTGGCAGGGCCGCCGGTCAACGTAGCATCAATCACATGTTCATTGTTTATTCGGAACATGTAGATGCCTCGATTCTAGAAAGGCAGAGGTTGCAGAAGAAGGGACAAGAGTATCAGAGAGTGGCAGTGGTGGCTGTGGGATCAGGTAGGAGACTCAGGCAGTGGGGGCTTTTGTTGCATGTACTTCATTTCTCCTGCCTTTCCCTTCTCCCCACCACAGCTTTCCTCCTGCTCTCCTGTGACCAATCCTGCCCTTGCTCCTTGGTTGAGTGCAGACTATGCACCACAATGGCCCCTCTGCCAGCTCATACCTGCTCTTCGTAGATTTTCTCCCGCCGGTTGGCCACCTCGTTCCAAATGATGGTGCCAATGTACTCGATAACCATTGTGTGCTTTTCTAGGTCCTTGGCTGCATAGAGCCCCAGGCCCTGGATACGGGAGCGAGCCAGGTACACGTTGTTCTTCCATTCGGTGCGCAGCCGCCGGTACTGAGATGACTTGGAGTGCACAAACTGCTTGCTGTAGGGGGTGTTGGTCTCGCCTGTGAAGGTGCTCTGATATGCCTTAGACATGCTGGTGCTGTTCAGGGTATGGGGCCTGGGAGGTGATATAATCCATGACAAGACAGCTCTCCCTCAGACCAAGTACATACCACCCACCTCCTCTGCCACCTCCTGGGATGTGCAACACACCAGTTAGGGGCGTGTGCTGCTGGCAAGCACTGGAAGTGCAGCCTTGGGAAAGGAGTAGAGGCAACTGGGTCTCAGCTCTGGTGAGGAAGCAACTAGCTACAGGGACCCTTCTGACACCCTGGGTGGCACAGAGAGCCCAGGGTGAGGGGTGGGGTGTGGAGGGAGATGGGGGGCACCAATTCCCCTACACTGAGCCTGTTCTCCCATCTCCCACTTCCTACCACTCTCCTGCCAAACCATTCTCAAGGCCATGCTCCTCTGGGAAGTTTTCCGCAAGCAGCCCAGGCCTAGAATTTAAGCTGATGGTTTGCTTGAATGTCTGAATCCTACCTCCTGCACATACTGGAAGCCCTGAAAATGGGGACTGTGCCTACCACGCTGGGCTAGATTTGAATTAAAACTGGCTGTGAACTCACAGCCTAAAGGTGGTATCCTTTCTTCGGACTGTCCCCTTCTCTGACATAACATTGGGCTCTGTGCAGATGGCTCAGTGCAGGGGAATGACGGCTGCCTGGCAGGATGCCTTTTACCACCTTAGGGCACCAGCCAAATTCTTGCCATCCCAGAGCAGTGGTTTTCAAACGTTTCTGGTTCTTTTTTTATTTAGCAGAAATCTTTGCTTTTTTCTTTAACAAAATGTTGACTGGAACTCCAATACATAAACTAGATGACAATGGAGCTCTTCTGGTTTAATCCAATTTGGGGAAGGAAGAGATATGCATGGGAAGGAAAAGTTCAACCCATCAGTTTAAGTGATCCAGGACTTTTTGGAACACAGGCACTCACAGTTTGAAAACCACCATTGCAGGGCATCAAGGACAAGGCTGGCTAGGGATGGAGAGTCTCTGACATTCTACAACAGCCTAGGAGCCACCAAAGACCTTCGAGAAAGCCCTGCTACCACAGATTCTGCCTCCCTCTACCCAGGGACTAAGGTCCCTGGTACACAGAAAGAACAAGGACCTGCAGTGAAGAAGTAAGGGTCTGGTCCCAGCTGTGTGACCTTTGCCTAGTCATTTAATCTTTCTGGGTCTCAGTTTTCTCAGCTGTAAAATGGGGGTCATACCACCTGCCCTACCTACCTCATAAGGTTGTTGTGAGGATCAAATGAGATAATGGATGTGAAAACGCTTTGAAAAAAAAAGTATAAAGTGCTATACAAATGTAAGGTTTTATTATTTTTCTATTATATCTCTAACTATTTATTTTTGACACCAACACTCATGGGGAAGGGAAGGTGACCCTAGCACCCATGGGGTATCTGAGGTTTGGGAGAATCACAGGCCCTCCCCCAGAAGTAAAACAGGAGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATA
|
Task1_train_17553
|
This alteration in KMT2D (lysine methyltransferase 2D) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; Kabuki syndrome 1
|
CCCGCGCTGACACTAAGCTCCCCCACCCCCACATCACCACCCCTTCCCACCAGACCAGCAGCAGTTTGGTGACTGAGGGAAAGTGGGAGCTCCGGGCCACACCCTGCCTCACTAGGTATGGGCATGCCACTCAGGGATAGCCCTCACCCTACCCCCCACCCAACCCGTCCAGGGGCTGGAGGGCAAACAGGCTCATGATGAGGTTGGGAAAACAGGAGGGAGATATCCTGGTCCTAGGTTTAGCTCCCTCCTGCCCCCATGTCCAGATGGAGAAGGAAGTCCTAGAGCAACTAGGGGCCAGTCATCCCCAATCTTCATCATCATTTGCCTCAACCACCATCCCATGCCCATAATTAAAAACAAAGATGGATTTTTTGTTGTTGTTTTTCTTCCTCCTCCTACCCCCCTTCCACCCACTCAGAAGAGGGCAGTGAGGTGGGGGAGAGGGTTGGGGCAGTAGGGGGCTTGGAGAGGGTCTCACATTTCAAAACAGCAAAAAATCCAACACTTAAATGAGGTAGGTGTGGGTGCGGGGTCTCCTTGCCCGGCTTGCCCAGCTTGCCCTCCTAGGCAGCTGGGCGCCTCTTTCCCGTTCATGTTGCATTTGTCAGAGTGGAAAACAAGGAAACACAACCCATAGAGAGACAGAAACACAGAGGAAAAGAGGGAAACAGAGACAGATCAAGAGGGAGGGGGATGGGGGTGAGGGTGGGGGCAGGACCCGGCAGGCAGGGCCAGGTGTGGGACCCGGCCTTTGGGATTGTCAAGCTTAGTCAAGTCTCTTTGCAGCCGTGAGTTGGGCCGGAGAGGTCAGTGGGAGCAGCAGGGCTGTGAGGCCCGGCCACACATCCTCTTCCCCCACCCTGCTGCCTCCCAGATGCTTCTGGGTAGTTCCCGGCCCATATCCCCCTCAAACCTGAGATGCCCAATGGCTGCTTCTGTCTGGCCCCTCCTGGAGCTGGGGGCAGAGATGCCAGCCTGAGGGCCGGTGGTGGGGAAGAGGATTGTCCCTGGTGCCCAGGGTGGGCTTGGCCTAGGGCCCTCTGCCCCAGCCTCCTGCTCCAGGGGCTCCGGGTCAGCCGGCAGCCCCAACCCTGGGTCCTGGCTCTGGCTGCTACCTCTCTTCCCCCTCATCCCTTTCAGGGAAGAGGTTGTGGGTAGGGGGACTCCCCTGCCTGGTAGCCTCAAAGCTTCTTAGTTCATCCATTTCCGACAATTCCAGGCTCCACAGTGGCAGGGGATCTTGTGCTGATCGTCCTCAAAATCAAACTGATAGTCATAGGTTAGCTGAAAAGAGAAGAGGGCAGAATCAATGCTAGTCCCCCACAGGAAGAGGGGAGGCCAGAGAAGATATGATCTGAGGTGCCCAGCCTAGGAATCCACATTTAGGGAATGGCAGAGAAGGGGTGAAAGGAGGAGGAGCTGCTTTGTCACTCAGTCAGGATACTTCCTCTCACCTCCTCTCCTTTGGGGATTCGCCGGCTGGAGATGATGATGATTTTGTCCTCTTTGTCAAATGTCACGACTTCGGCCACACAGTTAGGGGCACAGGAATGGTTAATGTACCTGGGCAGTGGGACAGAGTCAGGGATGTCAGGCAACTAACTTGGGACAATTTTGATTCCTTGTTCGTCTATCCCCCAGAGTGCCACTCTCAGGGACCACTAAATCCCTCCTTCCTCGTCATCTCTCACCTGGCAGGGCCGCCGGTCAACGTAGCATCAATCACATGTTCATTGTTTATTCGGAACATGTAGATGCCTCGATTCTAGAAAGGCAGAGGTTGCAGAAGAAGGGACAAGAGTATCAGAGAGTGGCAGTGGTGGCTGTGGGATCAGGTAGGAGACTCAGGCAGTGGGGGCTTTTGTTGCATGTACTTCATTTCTCCTGCCTTTCCCTTCTCCCCACCACAGCTTTCCTCCTGCTCTCCTGTGACCAATCCTGCCCTTGCTCCTTGGTTGAGTGCAGACTATGCACCACAATGGCCCCTCTGCCAGCTCATACCTGCTCTTCGTAGATTTTCTCCCGCCGGTTGGCCACCTCGTTCCGAATGATGGTGCCAATGTACTCGATAACCATTGTGTGCTTTTCTAGGTCCTTGGCTGCATAGAGCCCCAGGCCCTGGATACGGGAGCGAGCCAGGTACACGTTGTTCTTCCATTCGGTGCGCAGCCGCCGGTACTGAGATGACTTGGAGTGCACAAACTGCTTGCTGTAGGGGGTGTTGGTCTCGCCTGTGAAGGTGCTCTGATATGCCTTAGACATGCTGGTGCTGTTCAGGGTATGGGGCCTGGGAGGTGATATAATCCATGACAAGACAGCTCTCCCTCAGACCAAGTACATACCACCCACCTCCTCTGCCACCTCCTGGGATGTGCAACACACCAGTTAGGGGCGTGTGCTGCTGGCAAGCACTGGAAGTGCAGCCTTGGGAAAGGAGTAGAGGCAACTGGGTCTCAGCTCTGGTGAGGAAGCAACTAGCTACAGGGACCCTTCTGACACCCTGGGTGGCACAGAGAGCCCAGGGTGAGGGGTGGGGTGTGGAGGGAGATGGGGGGCACCAATTCCCCTACACTGAGCCTGTTCTCCCATCTCCCACTTCCTACCACTCTCCTGCCAAACCATTCTCAAGGCCATGCTCCTCTGGGAAGTTTTCCGCAAGCAGCCCAGGCCTAGAATTTAAGCTGATGGTTTGCTTGAATGTCTGAATCCTACCTCCTGCACATACTGGAAGCCCTGAAAATGGGGACTGTGCCTACCACGCTGGGCTAGATTTGAATTAAAACTGGCTGTGAACTCACAGCCTAAAGGTGGTATCCTTTCTTCGGACTGTCCCCTTCTCTGACATAACATTGGGCTCTGTGCAGATGGCTCAGTGCAGGGGAATGACGGCTGCCTGGCAGGATGCCTTTTACCACCTTAGGGCACCAGCCAAATTCTTGCCATCCCAGAGCAGTGGTTTTCAAACGTTTCTGGTTCTTTTTTTATTTAGCAGAAATCTTTGCTTTTTTCTTTAACAAAATGTTGACTGGAACTCCAATACATAAACTAGATGACAATGGAGCTCTTCTGGTTTAATCCAATTTGGGGAAGGAAGAGATATGCATGGGAAGGAAAAGTTCAACCCATCAGTTTAAGTGATCCAGGACTTTTTGGAACACAGGCACTCACAGTTTGAAAACCACCATTGCAGGGCATCAAGGACAAGGCTGGCTAGGGATGGAGAGTCTCTGACATTCTACAACAGCCTAGGAGCCACCAAAGACCTTCGAGAAAGCCCTGCTACCACAGATTCTGCCTCCCTCTACCCAGGGACTAAGGTCCCTGGTACACAGAAAGAACAAGGACCTGCAGTGAAGAAGTAAGGGTCTGGTCCCAGCTGTGTGACCTTTGCCTAGTCATTTAATCTTTCTGGGTCTCAGTTTTCTCAGCTGTAAAATGGGGGTCATACCACCTGCCCTACCTACCTCATAAGGTTGTTGTGAGGATCAAATGAGATAATGGATGTGAAAACGCTTTGAAAAAAAAAGTATAAAGTGCTATACAAATGTAAGGTTTTATTATTTTTCTATTATATCTCTAACTATTTATTTTTGACACCAACACTCATGGGGAAGGGAAGGTGACCCTAGCACCCATGGGGTATCTGAGGTTTGGGAGAATCACAGGCCCTCCCCCAGAAGTAAAACAGGAGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATA
|
CCCGCGCTGACACTAAGCTCCCCCACCCCCACATCACCACCCCTTCCCACCAGACCAGCAGCAGTTTGGTGACTGAGGGAAAGTGGGAGCTCCGGGCCACACCCTGCCTCACTAGGTATGGGCATGCCACTCAGGGATAGCCCTCACCCTACCCCCCACCCAACCCGTCCAGGGGCTGGAGGGCAAACAGGCTCATGATGAGGTTGGGAAAACAGGAGGGAGATATCCTGGTCCTAGGTTTAGCTCCCTCCTGCCCCCATGTCCAGATGGAGAAGGAAGTCCTAGAGCAACTAGGGGCCAGTCATCCCCAATCTTCATCATCATTTGCCTCAACCACCATCCCATGCCCATAATTAAAAACAAAGATGGATTTTTTGTTGTTGTTTTTCTTCCTCCTCCTACCCCCCTTCCACCCACTCAGAAGAGGGCAGTGAGGTGGGGGAGAGGGTTGGGGCAGTAGGGGGCTTGGAGAGGGTCTCACATTTCAAAACAGCAAAAAATCCAACACTTAAATGAGGTAGGTGTGGGTGCGGGGTCTCCTTGCCCGGCTTGCCCAGCTTGCCCTCCTAGGCAGCTGGGCGCCTCTTTCCCGTTCATGTTGCATTTGTCAGAGTGGAAAACAAGGAAACACAACCCATAGAGAGACAGAAACACAGAGGAAAAGAGGGAAACAGAGACAGATCAAGAGGGAGGGGGATGGGGGTGAGGGTGGGGGCAGGACCCGGCAGGCAGGGCCAGGTGTGGGACCCGGCCTTTGGGATTGTCAAGCTTAGTCAAGTCTCTTTGCAGCCGTGAGTTGGGCCGGAGAGGTCAGTGGGAGCAGCAGGGCTGTGAGGCCCGGCCACACATCCTCTTCCCCCACCCTGCTGCCTCCCAGATGCTTCTGGGTAGTTCCCGGCCCATATCCCCCTCAAACCTGAGATGCCCAATGGCTGCTTCTGTCTGGCCCCTCCTGGAGCTGGGGGCAGAGATGCCAGCCTGAGGGCCGGTGGTGGGGAAGAGGATTGTCCCTGGTGCCCAGGGTGGGCTTGGCCTAGGGCCCTCTGCCCCAGCCTCCTGCTCCAGGGGCTCCGGGTCAGCCGGCAGCCCCAACCCTGGGTCCTGGCTCTGGCTGCTACCTCTCTTCCCCCTCATCCCTTTCAGGGAAGAGGTTGTGGGTAGGGGGACTCCCCTGCCTGGTAGCCTCAAAGCTTCTTAGTTCATCCATTTCCGACAATTCCAGGCTCCACAGTGGCAGGGGATCTTGTGCTGATCGTCCTCAAAATCAAACTGATAGTCATAGGTTAGCTGAAAAGAGAAGAGGGCAGAATCAATGCTAGTCCCCCACAGGAAGAGGGGAGGCCAGAGAAGATATGATCTGAGGTGCCCAGCCTAGGAATCCACATTTAGGGAATGGCAGAGAAGGGGTGAAAGGAGGAGGAGCTGCTTTGTCACTCAGTCAGGATACTTCCTCTCACCTCCTCTCCTTTGGGGATTCGCCGGCTGGAGATGATGATGATTTTGTCCTCTTTGTCAAATGTCACGACTTCGGCCACACAGTTAGGGGCACAGGAATGGTTAATGTACCTGGGCAGTGGGACAGAGTCAGGGATGTCAGGCAACTAACTTGGGACAATTTTGATTCCTTGTTCGTCTATCCCCCAGAGTGCCACTCTCAGGGACCACTAAATCCCTCCTTCCTCGTCATCTCTCACCTGGCAGGGCCGCCGGTCAACGTAGCATCAATCACATGTTCATTGTTTATTCGGAACATGTAGATGCCTCGATTCTAGAAAGGCAGAGGTTGCAGAAGAAGGGACAAGAGTATCAGAGAGTGGCAGTGGTGGCTGTGGGATCAGGTAGGAGACTCAGGCAGTGGGGGCTTTTGTTGCATGTACTTCATTTCTCCTGCCTTTCCCTTCTCCCCACCACAGCTTTCCTCCTGCTCTCCTGTGACCAATCCTGCCCTTGCTCCTTGGTTGAGTGCAGACTATGCACCACAATGGCCCCTCTGCCAGCTCATACCTGCTCTTCGTAGATTTTCTCCCGCCGGTTGGCCACCTCGTTCCAAATGATGGTGCCAATGTACTCGATAACCATTGTGTGCTTTTCTAGGTCCTTGGCTGCATAGAGCCCCAGGCCCTGGATACGGGAGCGAGCCAGGTACACGTTGTTCTTCCATTCGGTGCGCAGCCGCCGGTACTGAGATGACTTGGAGTGCACAAACTGCTTGCTGTAGGGGGTGTTGGTCTCGCCTGTGAAGGTGCTCTGATATGCCTTAGACATGCTGGTGCTGTTCAGGGTATGGGGCCTGGGAGGTGATATAATCCATGACAAGACAGCTCTCCCTCAGACCAAGTACATACCACCCACCTCCTCTGCCACCTCCTGGGATGTGCAACACACCAGTTAGGGGCGTGTGCTGCTGGCAAGCACTGGAAGTGCAGCCTTGGGAAAGGAGTAGAGGCAACTGGGTCTCAGCTCTGGTGAGGAAGCAACTAGCTACAGGGACCCTTCTGACACCCTGGGTGGCACAGAGAGCCCAGGGTGAGGGGTGGGGTGTGGAGGGAGATGGGGGGCACCAATTCCCCTACACTGAGCCTGTTCTCCCATCTCCCACTTCCTACCACTCTCCTGCCAAACCATTCTCAAGGCCATGCTCCTCTGGGAAGTTTTCCGCAAGCAGCCCAGGCCTAGAATTTAAGCTGATGGTTTGCTTGAATGTCTGAATCCTACCTCCTGCACATACTGGAAGCCCTGAAAATGGGGACTGTGCCTACCACGCTGGGCTAGATTTGAATTAAAACTGGCTGTGAACTCACAGCCTAAAGGTGGTATCCTTTCTTCGGACTGTCCCCTTCTCTGACATAACATTGGGCTCTGTGCAGATGGCTCAGTGCAGGGGAATGACGGCTGCCTGGCAGGATGCCTTTTACCACCTTAGGGCACCAGCCAAATTCTTGCCATCCCAGAGCAGTGGTTTTCAAACGTTTCTGGTTCTTTTTTTATTTAGCAGAAATCTTTGCTTTTTTCTTTAACAAAATGTTGACTGGAACTCCAATACATAAACTAGATGACAATGGAGCTCTTCTGGTTTAATCCAATTTGGGGAAGGAAGAGATATGCATGGGAAGGAAAAGTTCAACCCATCAGTTTAAGTGATCCAGGACTTTTTGGAACACAGGCACTCACAGTTTGAAAACCACCATTGCAGGGCATCAAGGACAAGGCTGGCTAGGGATGGAGAGTCTCTGACATTCTACAACAGCCTAGGAGCCACCAAAGACCTTCGAGAAAGCCCTGCTACCACAGATTCTGCCTCCCTCTACCCAGGGACTAAGGTCCCTGGTACACAGAAAGAACAAGGACCTGCAGTGAAGAAGTAAGGGTCTGGTCCCAGCTGTGTGACCTTTGCCTAGTCATTTAATCTTTCTGGGTCTCAGTTTTCTCAGCTGTAAAATGGGGGTCATACCACCTGCCCTACCTACCTCATAAGGTTGTTGTGAGGATCAAATGAGATAATGGATGTGAAAACGCTTTGAAAAAAAAAGTATAAAGTGCTATACAAATGTAAGGTTTTATTATTTTTCTATTATATCTCTAACTATTTATTTTTGACACCAACACTCATGGGGAAGGGAAGGTGACCCTAGCACCCATGGGGTATCTGAGGTTTGGGAGAATCACAGGCCCTCCCCCAGAAGTAAAACAGGAGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATA
|
Task1_train_17554
|
Located on Chromosome 12, this mutation impacts KMT2D (lysine methyltransferase 2D). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
|
Pathogenic; See cases
|
CCCGCGCTGACACTAAGCTCCCCCACCCCCACATCACCACCCCTTCCCACCAGACCAGCAGCAGTTTGGTGACTGAGGGAAAGTGGGAGCTCCGGGCCACACCCTGCCTCACTAGGTATGGGCATGCCACTCAGGGATAGCCCTCACCCTACCCCCCACCCAACCCGTCCAGGGGCTGGAGGGCAAACAGGCTCATGATGAGGTTGGGAAAACAGGAGGGAGATATCCTGGTCCTAGGTTTAGCTCCCTCCTGCCCCCATGTCCAGATGGAGAAGGAAGTCCTAGAGCAACTAGGGGCCAGTCATCCCCAATCTTCATCATCATTTGCCTCAACCACCATCCCATGCCCATAATTAAAAACAAAGATGGATTTTTTGTTGTTGTTTTTCTTCCTCCTCCTACCCCCCTTCCACCCACTCAGAAGAGGGCAGTGAGGTGGGGGAGAGGGTTGGGGCAGTAGGGGGCTTGGAGAGGGTCTCACATTTCAAAACAGCAAAAAATCCAACACTTAAATGAGGTAGGTGTGGGTGCGGGGTCTCCTTGCCCGGCTTGCCCAGCTTGCCCTCCTAGGCAGCTGGGCGCCTCTTTCCCGTTCATGTTGCATTTGTCAGAGTGGAAAACAAGGAAACACAACCCATAGAGAGACAGAAACACAGAGGAAAAGAGGGAAACAGAGACAGATCAAGAGGGAGGGGGATGGGGGTGAGGGTGGGGGCAGGACCCGGCAGGCAGGGCCAGGTGTGGGACCCGGCCTTTGGGATTGTCAAGCTTAGTCAAGTCTCTTTGCAGCCGTGAGTTGGGCCGGAGAGGTCAGTGGGAGCAGCAGGGCTGTGAGGCCCGGCCACACATCCTCTTCCCCCACCCTGCTGCCTCCCAGATGCTTCTGGGTAGTTCCCGGCCCATATCCCCCTCAAACCTGAGATGCCCAATGGCTGCTTCTGTCTGGCCCCTCCTGGAGCTGGGGGCAGAGATGCCAGCCTGAGGGCCGGTGGTGGGGAAGAGGATTGTCCCTGGTGCCCAGGGTGGGCTTGGCCTAGGGCCCTCTGCCCCAGCCTCCTGCTCCAGGGGCTCCGGGTCAGCCGGCAGCCCCAACCCTGGGTCCTGGCTCTGGCTGCTACCTCTCTTCCCCCTCATCCCTTTCAGGGAAGAGGTTGTGGGTAGGGGGACTCCCCTGCCTGGTAGCCTCAAAGCTTCTTAGTTCATCCATTTCCGACAATTCCAGGCTCCACAGTGGCAGGGGATCTTGTGCTGATCGTCCTCAAAATCAAACTGATAGTCATAGGTTAGCTGAAAAGAGAAGAGGGCAGAATCAATGCTAGTCCCCCACAGGAAGAGGGGAGGCCAGAGAAGATATGATCTGAGGTGCCCAGCCTAGGAATCCACATTTAGGGAATGGCAGAGAAGGGGTGAAAGGAGGAGGAGCTGCTTTGTCACTCAGTCAGGATACTTCCTCTCACCTCCTCTCCTTTGGGGATTCGCCGGCTGGAGATGATGATGATTTTGTCCTCTTTGTCAAATGTCACGACTTCGGCCACACAGTTAGGGGCACAGGAATGGTTAATGTACCTGGGCAGTGGGACAGAGTCAGGGATGTCAGGCAACTAACTTGGGACAATTTTGATTCCTTGTTCGTCTATCCCCCAGAGTGCCACTCTCAGGGACCACTAAATCCCTCCTTCCTCGTCATCTCTCACCTGGCAGGGCCGCCGGTCAACGTAGCATCAATCACATGTTCATTGTTTATTCGGAACATGTAGATGCCTCGATTCTAGAAAGGCAGAGGTTGCAGAAGAAGGGACAAGAGTATCAGAGAGTGGCAGTGGTGGCTGTGGGATCAGGTAGGAGACTCAGGCAGTGGGGGCTTTTGTTGCATGTACTTCATTTCTCCTGCCTTTCCCTTCTCCCCACCACAGCTTTCCTCCTGCTCTCCTGTGACCAATCCTGCCCTTGCTCCTTGGTTGAGTGCAGACTATGCACCACAATGGCCCCTCTGCCAGCTCATACCTGCTCTTCGTAGATTTTCTCCCGCCGGTTGGCCACCTCGTTCCGAATGATGGTGCCAATGTACTCGATAACCATTGTGTGCTTTTCTAGGTCCTTGGCTGCATAGAGCCCCAGGCCCTGGATACGGGAGCGAGCCAGGTACACGTTGTTCTTCCATTCGGTGCGCAGCCGCCGGTACTGAGATGACTTGGAGTGCACAAACTGCTTGCTGTAGGGGGTGTTGGTCTCGCCTGTGAAGGTGCTCTGATATGCCTTAGACATGCTGGTGCTGTTCAGGGTATGGGGCCTGGGAGGTGATATAATCCATGACAAGACAGCTCTCCCTCAGACCAAGTACATACCACCCACCTCCTCTGCCACCTCCTGGGATGTGCAACACACCAGTTAGGGGCGTGTGCTGCTGGCAAGCACTGGAAGTGCAGCCTTGGGAAAGGAGTAGAGGCAACTGGGTCTCAGCTCTGGTGAGGAAGCAACTAGCTACAGGGACCCTTCTGACACCCTGGGTGGCACAGAGAGCCCAGGGTGAGGGGTGGGGTGTGGAGGGAGATGGGGGGCACCAATTCCCCTACACTGAGCCTGTTCTCCCATCTCCCACTTCCTACCACTCTCCTGCCAAACCATTCTCAAGGCCATGCTCCTCTGGGAAGTTTTCCGCAAGCAGCCCAGGCCTAGAATTTAAGCTGATGGTTTGCTTGAATGTCTGAATCCTACCTCCTGCACATACTGGAAGCCCTGAAAATGGGGACTGTGCCTACCACGCTGGGCTAGATTTGAATTAAAACTGGCTGTGAACTCACAGCCTAAAGGTGGTATCCTTTCTTCGGACTGTCCCCTTCTCTGACATAACATTGGGCTCTGTGCAGATGGCTCAGTGCAGGGGAATGACGGCTGCCTGGCAGGATGCCTTTTACCACCTTAGGGCACCAGCCAAATTCTTGCCATCCCAGAGCAGTGGTTTTCAAACGTTTCTGGTTCTTTTTTTATTTAGCAGAAATCTTTGCTTTTTTCTTTAACAAAATGTTGACTGGAACTCCAATACATAAACTAGATGACAATGGAGCTCTTCTGGTTTAATCCAATTTGGGGAAGGAAGAGATATGCATGGGAAGGAAAAGTTCAACCCATCAGTTTAAGTGATCCAGGACTTTTTGGAACACAGGCACTCACAGTTTGAAAACCACCATTGCAGGGCATCAAGGACAAGGCTGGCTAGGGATGGAGAGTCTCTGACATTCTACAACAGCCTAGGAGCCACCAAAGACCTTCGAGAAAGCCCTGCTACCACAGATTCTGCCTCCCTCTACCCAGGGACTAAGGTCCCTGGTACACAGAAAGAACAAGGACCTGCAGTGAAGAAGTAAGGGTCTGGTCCCAGCTGTGTGACCTTTGCCTAGTCATTTAATCTTTCTGGGTCTCAGTTTTCTCAGCTGTAAAATGGGGGTCATACCACCTGCCCTACCTACCTCATAAGGTTGTTGTGAGGATCAAATGAGATAATGGATGTGAAAACGCTTTGAAAAAAAAAGTATAAAGTGCTATACAAATGTAAGGTTTTATTATTTTTCTATTATATCTCTAACTATTTATTTTTGACACCAACACTCATGGGGAAGGGAAGGTGACCCTAGCACCCATGGGGTATCTGAGGTTTGGGAGAATCACAGGCCCTCCCCCAGAAGTAAAACAGGAGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATA
|
CCCGCGCTGACACTAAGCTCCCCCACCCCCACATCACCACCCCTTCCCACCAGACCAGCAGCAGTTTGGTGACTGAGGGAAAGTGGGAGCTCCGGGCCACACCCTGCCTCACTAGGTATGGGCATGCCACTCAGGGATAGCCCTCACCCTACCCCCCACCCAACCCGTCCAGGGGCTGGAGGGCAAACAGGCTCATGATGAGGTTGGGAAAACAGGAGGGAGATATCCTGGTCCTAGGTTTAGCTCCCTCCTGCCCCCATGTCCAGATGGAGAAGGAAGTCCTAGAGCAACTAGGGGCCAGTCATCCCCAATCTTCATCATCATTTGCCTCAACCACCATCCCATGCCCATAATTAAAAACAAAGATGGATTTTTTGTTGTTGTTTTTCTTCCTCCTCCTACCCCCCTTCCACCCACTCAGAAGAGGGCAGTGAGGTGGGGGAGAGGGTTGGGGCAGTAGGGGGCTTGGAGAGGGTCTCACATTTCAAAACAGCAAAAAATCCAACACTTAAATGAGGTAGGTGTGGGTGCGGGGTCTCCTTGCCCGGCTTGCCCAGCTTGCCCTCCTAGGCAGCTGGGCGCCTCTTTCCCGTTCATGTTGCATTTGTCAGAGTGGAAAACAAGGAAACACAACCCATAGAGAGACAGAAACACAGAGGAAAAGAGGGAAACAGAGACAGATCAAGAGGGAGGGGGATGGGGGTGAGGGTGGGGGCAGGACCCGGCAGGCAGGGCCAGGTGTGGGACCCGGCCTTTGGGATTGTCAAGCTTAGTCAAGTCTCTTTGCAGCCGTGAGTTGGGCCGGAGAGGTCAGTGGGAGCAGCAGGGCTGTGAGGCCCGGCCACACATCCTCTTCCCCCACCCTGCTGCCTCCCAGATGCTTCTGGGTAGTTCCCGGCCCATATCCCCCTCAAACCTGAGATGCCCAATGGCTGCTTCTGTCTGGCCCCTCCTGGAGCTGGGGGCAGAGATGCCAGCCTGAGGGCCGGTGGTGGGGAAGAGGATTGTCCCTGGTGCCCAGGGTGGGCTTGGCCTAGGGCCCTCTGCCCCAGCCTCCTGCTCCAGGGGCTCCGGGTCAGCCGGCAGCCCCAACCCTGGGTCCTGGCTCTGGCTGCTACCTCTCTTCCCCCTCATCCCTTTCAGGGAAGAGGTTGTGGGTAGGGGGACTCCCCTGCCTGGTAGCCTCAAAGCTTCTTAGTTCATCCATTTCCGACAATTCCAGGCTCCACAGTGGCAGGGGATCTTGTGCTGATCGTCCTCAAAATCAAACTGATAGTCATAGGTTAGCTGAAAAGAGAAGAGGGCAGAATCAATGCTAGTCCCCCACAGGAAGAGGGGAGGCCAGAGAAGATATGATCTGAGGTGCCCAGCCTAGGAATCCACATTTAGGGAATGGCAGAGAAGGGGTGAAAGGAGGAGGAGCTGCTTTGTCACTCAGTCAGGATACTTCCTCTCACCTCCTCTCCTTTGGGGATTCGCCGGCTGGAGATGATGATGATTTTGTCCTCTTTGTCAAATGTCACGACTTCGGCCACACAGTTAGGGGCACAGGAATGGTTAATGTACCTGGGCAGTGGGACAGAGTCAGGGATGTCAGGCAACTAACTTGGGACAATTTTGATTCCTTGTTCGTCTATCCCCCAGAGTGCCACTCTCAGGGACCACTAAATCCCTCCTTCCTCGTCATCTCTCACCTGGCAGGGCCGCCGGTCAACGTAGCATCAATCACATGTTCATTGTTTATTCGGAACATGTAGATGCCTCGATTCTAGAAAGGCAGAGGTTGCAGAAGAAGGGACAAGAGTATCAGAGAGTGGCAGTGGTGGCTGTGGGATCAGGTAGGAGACTCAGGCAGTGGGGGCTTTTGTTGCATGTACTTCATTTCTCCTGCCTTTCCCTTCTCCCCACCACAGCTTTCCTCCTGCTCTCCTGTGACCAATCCTGCCCTTGCTCCTTGGTTGAGTGCAGACTATGCACCACAATGGCCCCTCTGCCAGCTCATACCTGCTCTTCGTAGATTTTCTCCCGCCGGTTGGCCACCTCGTTCCAAATGATGGTGCCAATGTACTCGATAACCATTGTGTGCTTTTCTAGGTCCTTGGCTGCATAGAGCCCCAGGCCCTGGATACGGGAGCGAGCCAGGTACACGTTGTTCTTCCATTCGGTGCGCAGCCGCCGGTACTGAGATGACTTGGAGTGCACAAACTGCTTGCTGTAGGGGGTGTTGGTCTCGCCTGTGAAGGTGCTCTGATATGCCTTAGACATGCTGGTGCTGTTCAGGGTATGGGGCCTGGGAGGTGATATAATCCATGACAAGACAGCTCTCCCTCAGACCAAGTACATACCACCCACCTCCTCTGCCACCTCCTGGGATGTGCAACACACCAGTTAGGGGCGTGTGCTGCTGGCAAGCACTGGAAGTGCAGCCTTGGGAAAGGAGTAGAGGCAACTGGGTCTCAGCTCTGGTGAGGAAGCAACTAGCTACAGGGACCCTTCTGACACCCTGGGTGGCACAGAGAGCCCAGGGTGAGGGGTGGGGTGTGGAGGGAGATGGGGGGCACCAATTCCCCTACACTGAGCCTGTTCTCCCATCTCCCACTTCCTACCACTCTCCTGCCAAACCATTCTCAAGGCCATGCTCCTCTGGGAAGTTTTCCGCAAGCAGCCCAGGCCTAGAATTTAAGCTGATGGTTTGCTTGAATGTCTGAATCCTACCTCCTGCACATACTGGAAGCCCTGAAAATGGGGACTGTGCCTACCACGCTGGGCTAGATTTGAATTAAAACTGGCTGTGAACTCACAGCCTAAAGGTGGTATCCTTTCTTCGGACTGTCCCCTTCTCTGACATAACATTGGGCTCTGTGCAGATGGCTCAGTGCAGGGGAATGACGGCTGCCTGGCAGGATGCCTTTTACCACCTTAGGGCACCAGCCAAATTCTTGCCATCCCAGAGCAGTGGTTTTCAAACGTTTCTGGTTCTTTTTTTATTTAGCAGAAATCTTTGCTTTTTTCTTTAACAAAATGTTGACTGGAACTCCAATACATAAACTAGATGACAATGGAGCTCTTCTGGTTTAATCCAATTTGGGGAAGGAAGAGATATGCATGGGAAGGAAAAGTTCAACCCATCAGTTTAAGTGATCCAGGACTTTTTGGAACACAGGCACTCACAGTTTGAAAACCACCATTGCAGGGCATCAAGGACAAGGCTGGCTAGGGATGGAGAGTCTCTGACATTCTACAACAGCCTAGGAGCCACCAAAGACCTTCGAGAAAGCCCTGCTACCACAGATTCTGCCTCCCTCTACCCAGGGACTAAGGTCCCTGGTACACAGAAAGAACAAGGACCTGCAGTGAAGAAGTAAGGGTCTGGTCCCAGCTGTGTGACCTTTGCCTAGTCATTTAATCTTTCTGGGTCTCAGTTTTCTCAGCTGTAAAATGGGGGTCATACCACCTGCCCTACCTACCTCATAAGGTTGTTGTGAGGATCAAATGAGATAATGGATGTGAAAACGCTTTGAAAAAAAAAGTATAAAGTGCTATACAAATGTAAGGTTTTATTATTTTTCTATTATATCTCTAACTATTTATTTTTGACACCAACACTCATGGGGAAGGGAAGGTGACCCTAGCACCCATGGGGTATCTGAGGTTTGGGAGAATCACAGGCCCTCCCCCAGAAGTAAAACAGGAGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATA
|
Task1_train_17555
|
A variant has been detected on Chromosome 12 in KMT2D (lysine methyltransferase 2D). What is its effect — pathogenic or benign? If pathogenic, name the disease.
|
Pathogenic; Inborn genetic diseases
|
CCCACCCCCACATCACCACCCCTTCCCACCAGACCAGCAGCAGTTTGGTGACTGAGGGAAAGTGGGAGCTCCGGGCCACACCCTGCCTCACTAGGTATGGGCATGCCACTCAGGGATAGCCCTCACCCTACCCCCCACCCAACCCGTCCAGGGGCTGGAGGGCAAACAGGCTCATGATGAGGTTGGGAAAACAGGAGGGAGATATCCTGGTCCTAGGTTTAGCTCCCTCCTGCCCCCATGTCCAGATGGAGAAGGAAGTCCTAGAGCAACTAGGGGCCAGTCATCCCCAATCTTCATCATCATTTGCCTCAACCACCATCCCATGCCCATAATTAAAAACAAAGATGGATTTTTTGTTGTTGTTTTTCTTCCTCCTCCTACCCCCCTTCCACCCACTCAGAAGAGGGCAGTGAGGTGGGGGAGAGGGTTGGGGCAGTAGGGGGCTTGGAGAGGGTCTCACATTTCAAAACAGCAAAAAATCCAACACTTAAATGAGGTAGGTGTGGGTGCGGGGTCTCCTTGCCCGGCTTGCCCAGCTTGCCCTCCTAGGCAGCTGGGCGCCTCTTTCCCGTTCATGTTGCATTTGTCAGAGTGGAAAACAAGGAAACACAACCCATAGAGAGACAGAAACACAGAGGAAAAGAGGGAAACAGAGACAGATCAAGAGGGAGGGGGATGGGGGTGAGGGTGGGGGCAGGACCCGGCAGGCAGGGCCAGGTGTGGGACCCGGCCTTTGGGATTGTCAAGCTTAGTCAAGTCTCTTTGCAGCCGTGAGTTGGGCCGGAGAGGTCAGTGGGAGCAGCAGGGCTGTGAGGCCCGGCCACACATCCTCTTCCCCCACCCTGCTGCCTCCCAGATGCTTCTGGGTAGTTCCCGGCCCATATCCCCCTCAAACCTGAGATGCCCAATGGCTGCTTCTGTCTGGCCCCTCCTGGAGCTGGGGGCAGAGATGCCAGCCTGAGGGCCGGTGGTGGGGAAGAGGATTGTCCCTGGTGCCCAGGGTGGGCTTGGCCTAGGGCCCTCTGCCCCAGCCTCCTGCTCCAGGGGCTCCGGGTCAGCCGGCAGCCCCAACCCTGGGTCCTGGCTCTGGCTGCTACCTCTCTTCCCCCTCATCCCTTTCAGGGAAGAGGTTGTGGGTAGGGGGACTCCCCTGCCTGGTAGCCTCAAAGCTTCTTAGTTCATCCATTTCCGACAATTCCAGGCTCCACAGTGGCAGGGGATCTTGTGCTGATCGTCCTCAAAATCAAACTGATAGTCATAGGTTAGCTGAAAAGAGAAGAGGGCAGAATCAATGCTAGTCCCCCACAGGAAGAGGGGAGGCCAGAGAAGATATGATCTGAGGTGCCCAGCCTAGGAATCCACATTTAGGGAATGGCAGAGAAGGGGTGAAAGGAGGAGGAGCTGCTTTGTCACTCAGTCAGGATACTTCCTCTCACCTCCTCTCCTTTGGGGATTCGCCGGCTGGAGATGATGATGATTTTGTCCTCTTTGTCAAATGTCACGACTTCGGCCACACAGTTAGGGGCACAGGAATGGTTAATGTACCTGGGCAGTGGGACAGAGTCAGGGATGTCAGGCAACTAACTTGGGACAATTTTGATTCCTTGTTCGTCTATCCCCCAGAGTGCCACTCTCAGGGACCACTAAATCCCTCCTTCCTCGTCATCTCTCACCTGGCAGGGCCGCCGGTCAACGTAGCATCAATCACATGTTCATTGTTTATTCGGAACATGTAGATGCCTCGATTCTAGAAAGGCAGAGGTTGCAGAAGAAGGGACAAGAGTATCAGAGAGTGGCAGTGGTGGCTGTGGGATCAGGTAGGAGACTCAGGCAGTGGGGGCTTTTGTTGCATGTACTTCATTTCTCCTGCCTTTCCCTTCTCCCCACCACAGCTTTCCTCCTGCTCTCCTGTGACCAATCCTGCCCTTGCTCCTTGGTTGAGTGCAGACTATGCACCACAATGGCCCCTCTGCCAGCTCATACCTGCTCTTCGTAGATTTTCTCCCGCCGGTTGGCCACCTCGTTCCGAATGATGGTGCCAATGTACTCGATAACCATTGTGTGCTTTTCTAGGTCCTTGGCTGCATAGAGCCCCAGGCCCTGGATACGGGAGCGAGCCAGGTACACGTTGTTCTTCCATTCGGTGCGCAGCCGCCGGTACTGAGATGACTTGGAGTGCACAAACTGCTTGCTGTAGGGGGTGTTGGTCTCGCCTGTGAAGGTGCTCTGATATGCCTTAGACATGCTGGTGCTGTTCAGGGTATGGGGCCTGGGAGGTGATATAATCCATGACAAGACAGCTCTCCCTCAGACCAAGTACATACCACCCACCTCCTCTGCCACCTCCTGGGATGTGCAACACACCAGTTAGGGGCGTGTGCTGCTGGCAAGCACTGGAAGTGCAGCCTTGGGAAAGGAGTAGAGGCAACTGGGTCTCAGCTCTGGTGAGGAAGCAACTAGCTACAGGGACCCTTCTGACACCCTGGGTGGCACAGAGAGCCCAGGGTGAGGGGTGGGGTGTGGAGGGAGATGGGGGGCACCAATTCCCCTACACTGAGCCTGTTCTCCCATCTCCCACTTCCTACCACTCTCCTGCCAAACCATTCTCAAGGCCATGCTCCTCTGGGAAGTTTTCCGCAAGCAGCCCAGGCCTAGAATTTAAGCTGATGGTTTGCTTGAATGTCTGAATCCTACCTCCTGCACATACTGGAAGCCCTGAAAATGGGGACTGTGCCTACCACGCTGGGCTAGATTTGAATTAAAACTGGCTGTGAACTCACAGCCTAAAGGTGGTATCCTTTCTTCGGACTGTCCCCTTCTCTGACATAACATTGGGCTCTGTGCAGATGGCTCAGTGCAGGGGAATGACGGCTGCCTGGCAGGATGCCTTTTACCACCTTAGGGCACCAGCCAAATTCTTGCCATCCCAGAGCAGTGGTTTTCAAACGTTTCTGGTTCTTTTTTTATTTAGCAGAAATCTTTGCTTTTTTCTTTAACAAAATGTTGACTGGAACTCCAATACATAAACTAGATGACAATGGAGCTCTTCTGGTTTAATCCAATTTGGGGAAGGAAGAGATATGCATGGGAAGGAAAAGTTCAACCCATCAGTTTAAGTGATCCAGGACTTTTTGGAACACAGGCACTCACAGTTTGAAAACCACCATTGCAGGGCATCAAGGACAAGGCTGGCTAGGGATGGAGAGTCTCTGACATTCTACAACAGCCTAGGAGCCACCAAAGACCTTCGAGAAAGCCCTGCTACCACAGATTCTGCCTCCCTCTACCCAGGGACTAAGGTCCCTGGTACACAGAAAGAACAAGGACCTGCAGTGAAGAAGTAAGGGTCTGGTCCCAGCTGTGTGACCTTTGCCTAGTCATTTAATCTTTCTGGGTCTCAGTTTTCTCAGCTGTAAAATGGGGGTCATACCACCTGCCCTACCTACCTCATAAGGTTGTTGTGAGGATCAAATGAGATAATGGATGTGAAAACGCTTTGAAAAAAAAAGTATAAAGTGCTATACAAATGTAAGGTTTTATTATTTTTCTATTATATCTCTAACTATTTATTTTTGACACCAACACTCATGGGGAAGGGAAGGTGACCCTAGCACCCATGGGGTATCTGAGGTTTGGGAGAATCACAGGCCCTCCCCCAGAAGTAAAACAGGAGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATAGTTTTGACAGCTCTCCACCCC
|
CCCACCCCCACATCACCACCCCTTCCCACCAGACCAGCAGCAGTTTGGTGACTGAGGGAAAGTGGGAGCTCCGGGCCACACCCTGCCTCACTAGGTATGGGCATGCCACTCAGGGATAGCCCTCACCCTACCCCCCACCCAACCCGTCCAGGGGCTGGAGGGCAAACAGGCTCATGATGAGGTTGGGAAAACAGGAGGGAGATATCCTGGTCCTAGGTTTAGCTCCCTCCTGCCCCCATGTCCAGATGGAGAAGGAAGTCCTAGAGCAACTAGGGGCCAGTCATCCCCAATCTTCATCATCATTTGCCTCAACCACCATCCCATGCCCATAATTAAAAACAAAGATGGATTTTTTGTTGTTGTTTTTCTTCCTCCTCCTACCCCCCTTCCACCCACTCAGAAGAGGGCAGTGAGGTGGGGGAGAGGGTTGGGGCAGTAGGGGGCTTGGAGAGGGTCTCACATTTCAAAACAGCAAAAAATCCAACACTTAAATGAGGTAGGTGTGGGTGCGGGGTCTCCTTGCCCGGCTTGCCCAGCTTGCCCTCCTAGGCAGCTGGGCGCCTCTTTCCCGTTCATGTTGCATTTGTCAGAGTGGAAAACAAGGAAACACAACCCATAGAGAGACAGAAACACAGAGGAAAAGAGGGAAACAGAGACAGATCAAGAGGGAGGGGGATGGGGGTGAGGGTGGGGGCAGGACCCGGCAGGCAGGGCCAGGTGTGGGACCCGGCCTTTGGGATTGTCAAGCTTAGTCAAGTCTCTTTGCAGCCGTGAGTTGGGCCGGAGAGGTCAGTGGGAGCAGCAGGGCTGTGAGGCCCGGCCACACATCCTCTTCCCCCACCCTGCTGCCTCCCAGATGCTTCTGGGTAGTTCCCGGCCCATATCCCCCTCAAACCTGAGATGCCCAATGGCTGCTTCTGTCTGGCCCCTCCTGGAGCTGGGGGCAGAGATGCCAGCCTGAGGGCCGGTGGTGGGGAAGAGGATTGTCCCTGGTGCCCAGGGTGGGCTTGGCCTAGGGCCCTCTGCCCCAGCCTCCTGCTCCAGGGGCTCCGGGTCAGCCGGCAGCCCCAACCCTGGGTCCTGGCTCTGGCTGCTACCTCTCTTCCCCCTCATCCCTTTCAGGGAAGAGGTTGTGGGTAGGGGGACTCCCCTGCCTGGTAGCCTCAAAGCTTCTTAGTTCATCCATTTCCGACAATTCCAGGCTCCACAGTGGCAGGGGATCTTGTGCTGATCGTCCTCAAAATCAAACTGATAGTCATAGGTTAGCTGAAAAGAGAAGAGGGCAGAATCAATGCTAGTCCCCCACAGGAAGAGGGGAGGCCAGAGAAGATATGATCTGAGGTGCCCAGCCTAGGAATCCACATTTAGGGAATGGCAGAGAAGGGGTGAAAGGAGGAGGAGCTGCTTTGTCACTCAGTCAGGATACTTCCTCTCACCTCCTCTCCTTTGGGGATTCGCCGGCTGGAGATGATGATGATTTTGTCCTCTTTGTCAAATGTCACGACTTCGGCCACACAGTTAGGGGCACAGGAATGGTTAATGTACCTGGGCAGTGGGACAGAGTCAGGGATGTCAGGCAACTAACTTGGGACAATTTTGATTCCTTGTTCGTCTATCCCCCAGAGTGCCACTCTCAGGGACCACTAAATCCCTCCTTCCTCGTCATCTCTCACCTGGCAGGGCCGCCGGTCAACGTAGCATCAATCACATGTTCATTGTTTATTCGGAACATGTAGATGCCTCGATTCTAGAAAGGCAGAGGTTGCAGAAGAAGGGACAAGAGTATCAGAGAGTGGCAGTGGTGGCTGTGGGATCAGGTAGGAGACTCAGGCAGTGGGGGCTTTTGTTGCATGTACTTCATTTCTCCTGCCTTTCCCTTCTCCCCACCACAGCTTTCCTCCTGCTCTCCTGTGACCAATCCTGCCCTTGCTCCTTGGTTGAGTGCAGACTATGCACCACAATGGCCCCTCTGCCAGCTCATACCTGCTCTTCGTAGATTTTCTCCCGCCGGTTGGCCACCTCGTTCCGAATGATGGTGCCAATGTACTTGATAACCATTGTGTGCTTTTCTAGGTCCTTGGCTGCATAGAGCCCCAGGCCCTGGATACGGGAGCGAGCCAGGTACACGTTGTTCTTCCATTCGGTGCGCAGCCGCCGGTACTGAGATGACTTGGAGTGCACAAACTGCTTGCTGTAGGGGGTGTTGGTCTCGCCTGTGAAGGTGCTCTGATATGCCTTAGACATGCTGGTGCTGTTCAGGGTATGGGGCCTGGGAGGTGATATAATCCATGACAAGACAGCTCTCCCTCAGACCAAGTACATACCACCCACCTCCTCTGCCACCTCCTGGGATGTGCAACACACCAGTTAGGGGCGTGTGCTGCTGGCAAGCACTGGAAGTGCAGCCTTGGGAAAGGAGTAGAGGCAACTGGGTCTCAGCTCTGGTGAGGAAGCAACTAGCTACAGGGACCCTTCTGACACCCTGGGTGGCACAGAGAGCCCAGGGTGAGGGGTGGGGTGTGGAGGGAGATGGGGGGCACCAATTCCCCTACACTGAGCCTGTTCTCCCATCTCCCACTTCCTACCACTCTCCTGCCAAACCATTCTCAAGGCCATGCTCCTCTGGGAAGTTTTCCGCAAGCAGCCCAGGCCTAGAATTTAAGCTGATGGTTTGCTTGAATGTCTGAATCCTACCTCCTGCACATACTGGAAGCCCTGAAAATGGGGACTGTGCCTACCACGCTGGGCTAGATTTGAATTAAAACTGGCTGTGAACTCACAGCCTAAAGGTGGTATCCTTTCTTCGGACTGTCCCCTTCTCTGACATAACATTGGGCTCTGTGCAGATGGCTCAGTGCAGGGGAATGACGGCTGCCTGGCAGGATGCCTTTTACCACCTTAGGGCACCAGCCAAATTCTTGCCATCCCAGAGCAGTGGTTTTCAAACGTTTCTGGTTCTTTTTTTATTTAGCAGAAATCTTTGCTTTTTTCTTTAACAAAATGTTGACTGGAACTCCAATACATAAACTAGATGACAATGGAGCTCTTCTGGTTTAATCCAATTTGGGGAAGGAAGAGATATGCATGGGAAGGAAAAGTTCAACCCATCAGTTTAAGTGATCCAGGACTTTTTGGAACACAGGCACTCACAGTTTGAAAACCACCATTGCAGGGCATCAAGGACAAGGCTGGCTAGGGATGGAGAGTCTCTGACATTCTACAACAGCCTAGGAGCCACCAAAGACCTTCGAGAAAGCCCTGCTACCACAGATTCTGCCTCCCTCTACCCAGGGACTAAGGTCCCTGGTACACAGAAAGAACAAGGACCTGCAGTGAAGAAGTAAGGGTCTGGTCCCAGCTGTGTGACCTTTGCCTAGTCATTTAATCTTTCTGGGTCTCAGTTTTCTCAGCTGTAAAATGGGGGTCATACCACCTGCCCTACCTACCTCATAAGGTTGTTGTGAGGATCAAATGAGATAATGGATGTGAAAACGCTTTGAAAAAAAAAGTATAAAGTGCTATACAAATGTAAGGTTTTATTATTTTTCTATTATATCTCTAACTATTTATTTTTGACACCAACACTCATGGGGAAGGGAAGGTGACCCTAGCACCCATGGGGTATCTGAGGTTTGGGAGAATCACAGGCCCTCCCCCAGAAGTAAAACAGGAGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATAGTTTTGACAGCTCTCCACCCC
|
Task1_train_17556
|
This variant lies on Chromosome 12 and affects the gene KMT2D (lysine methyltransferase 2D). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
|
Pathogenic; Kabuki syndrome
|
CCCACCCCCACATCACCACCCCTTCCCACCAGACCAGCAGCAGTTTGGTGACTGAGGGAAAGTGGGAGCTCCGGGCCACACCCTGCCTCACTAGGTATGGGCATGCCACTCAGGGATAGCCCTCACCCTACCCCCCACCCAACCCGTCCAGGGGCTGGAGGGCAAACAGGCTCATGATGAGGTTGGGAAAACAGGAGGGAGATATCCTGGTCCTAGGTTTAGCTCCCTCCTGCCCCCATGTCCAGATGGAGAAGGAAGTCCTAGAGCAACTAGGGGCCAGTCATCCCCAATCTTCATCATCATTTGCCTCAACCACCATCCCATGCCCATAATTAAAAACAAAGATGGATTTTTTGTTGTTGTTTTTCTTCCTCCTCCTACCCCCCTTCCACCCACTCAGAAGAGGGCAGTGAGGTGGGGGAGAGGGTTGGGGCAGTAGGGGGCTTGGAGAGGGTCTCACATTTCAAAACAGCAAAAAATCCAACACTTAAATGAGGTAGGTGTGGGTGCGGGGTCTCCTTGCCCGGCTTGCCCAGCTTGCCCTCCTAGGCAGCTGGGCGCCTCTTTCCCGTTCATGTTGCATTTGTCAGAGTGGAAAACAAGGAAACACAACCCATAGAGAGACAGAAACACAGAGGAAAAGAGGGAAACAGAGACAGATCAAGAGGGAGGGGGATGGGGGTGAGGGTGGGGGCAGGACCCGGCAGGCAGGGCCAGGTGTGGGACCCGGCCTTTGGGATTGTCAAGCTTAGTCAAGTCTCTTTGCAGCCGTGAGTTGGGCCGGAGAGGTCAGTGGGAGCAGCAGGGCTGTGAGGCCCGGCCACACATCCTCTTCCCCCACCCTGCTGCCTCCCAGATGCTTCTGGGTAGTTCCCGGCCCATATCCCCCTCAAACCTGAGATGCCCAATGGCTGCTTCTGTCTGGCCCCTCCTGGAGCTGGGGGCAGAGATGCCAGCCTGAGGGCCGGTGGTGGGGAAGAGGATTGTCCCTGGTGCCCAGGGTGGGCTTGGCCTAGGGCCCTCTGCCCCAGCCTCCTGCTCCAGGGGCTCCGGGTCAGCCGGCAGCCCCAACCCTGGGTCCTGGCTCTGGCTGCTACCTCTCTTCCCCCTCATCCCTTTCAGGGAAGAGGTTGTGGGTAGGGGGACTCCCCTGCCTGGTAGCCTCAAAGCTTCTTAGTTCATCCATTTCCGACAATTCCAGGCTCCACAGTGGCAGGGGATCTTGTGCTGATCGTCCTCAAAATCAAACTGATAGTCATAGGTTAGCTGAAAAGAGAAGAGGGCAGAATCAATGCTAGTCCCCCACAGGAAGAGGGGAGGCCAGAGAAGATATGATCTGAGGTGCCCAGCCTAGGAATCCACATTTAGGGAATGGCAGAGAAGGGGTGAAAGGAGGAGGAGCTGCTTTGTCACTCAGTCAGGATACTTCCTCTCACCTCCTCTCCTTTGGGGATTCGCCGGCTGGAGATGATGATGATTTTGTCCTCTTTGTCAAATGTCACGACTTCGGCCACACAGTTAGGGGCACAGGAATGGTTAATGTACCTGGGCAGTGGGACAGAGTCAGGGATGTCAGGCAACTAACTTGGGACAATTTTGATTCCTTGTTCGTCTATCCCCCAGAGTGCCACTCTCAGGGACCACTAAATCCCTCCTTCCTCGTCATCTCTCACCTGGCAGGGCCGCCGGTCAACGTAGCATCAATCACATGTTCATTGTTTATTCGGAACATGTAGATGCCTCGATTCTAGAAAGGCAGAGGTTGCAGAAGAAGGGACAAGAGTATCAGAGAGTGGCAGTGGTGGCTGTGGGATCAGGTAGGAGACTCAGGCAGTGGGGGCTTTTGTTGCATGTACTTCATTTCTCCTGCCTTTCCCTTCTCCCCACCACAGCTTTCCTCCTGCTCTCCTGTGACCAATCCTGCCCTTGCTCCTTGGTTGAGTGCAGACTATGCACCACAATGGCCCCTCTGCCAGCTCATACCTGCTCTTCGTAGATTTTCTCCCGCCGGTTGGCCACCTCGTTCCGAATGATGGTGCCAATGTACTCGATAACCATTGTGTGCTTTTCTAGGTCCTTGGCTGCATAGAGCCCCAGGCCCTGGATACGGGAGCGAGCCAGGTACACGTTGTTCTTCCATTCGGTGCGCAGCCGCCGGTACTGAGATGACTTGGAGTGCACAAACTGCTTGCTGTAGGGGGTGTTGGTCTCGCCTGTGAAGGTGCTCTGATATGCCTTAGACATGCTGGTGCTGTTCAGGGTATGGGGCCTGGGAGGTGATATAATCCATGACAAGACAGCTCTCCCTCAGACCAAGTACATACCACCCACCTCCTCTGCCACCTCCTGGGATGTGCAACACACCAGTTAGGGGCGTGTGCTGCTGGCAAGCACTGGAAGTGCAGCCTTGGGAAAGGAGTAGAGGCAACTGGGTCTCAGCTCTGGTGAGGAAGCAACTAGCTACAGGGACCCTTCTGACACCCTGGGTGGCACAGAGAGCCCAGGGTGAGGGGTGGGGTGTGGAGGGAGATGGGGGGCACCAATTCCCCTACACTGAGCCTGTTCTCCCATCTCCCACTTCCTACCACTCTCCTGCCAAACCATTCTCAAGGCCATGCTCCTCTGGGAAGTTTTCCGCAAGCAGCCCAGGCCTAGAATTTAAGCTGATGGTTTGCTTGAATGTCTGAATCCTACCTCCTGCACATACTGGAAGCCCTGAAAATGGGGACTGTGCCTACCACGCTGGGCTAGATTTGAATTAAAACTGGCTGTGAACTCACAGCCTAAAGGTGGTATCCTTTCTTCGGACTGTCCCCTTCTCTGACATAACATTGGGCTCTGTGCAGATGGCTCAGTGCAGGGGAATGACGGCTGCCTGGCAGGATGCCTTTTACCACCTTAGGGCACCAGCCAAATTCTTGCCATCCCAGAGCAGTGGTTTTCAAACGTTTCTGGTTCTTTTTTTATTTAGCAGAAATCTTTGCTTTTTTCTTTAACAAAATGTTGACTGGAACTCCAATACATAAACTAGATGACAATGGAGCTCTTCTGGTTTAATCCAATTTGGGGAAGGAAGAGATATGCATGGGAAGGAAAAGTTCAACCCATCAGTTTAAGTGATCCAGGACTTTTTGGAACACAGGCACTCACAGTTTGAAAACCACCATTGCAGGGCATCAAGGACAAGGCTGGCTAGGGATGGAGAGTCTCTGACATTCTACAACAGCCTAGGAGCCACCAAAGACCTTCGAGAAAGCCCTGCTACCACAGATTCTGCCTCCCTCTACCCAGGGACTAAGGTCCCTGGTACACAGAAAGAACAAGGACCTGCAGTGAAGAAGTAAGGGTCTGGTCCCAGCTGTGTGACCTTTGCCTAGTCATTTAATCTTTCTGGGTCTCAGTTTTCTCAGCTGTAAAATGGGGGTCATACCACCTGCCCTACCTACCTCATAAGGTTGTTGTGAGGATCAAATGAGATAATGGATGTGAAAACGCTTTGAAAAAAAAAGTATAAAGTGCTATACAAATGTAAGGTTTTATTATTTTTCTATTATATCTCTAACTATTTATTTTTGACACCAACACTCATGGGGAAGGGAAGGTGACCCTAGCACCCATGGGGTATCTGAGGTTTGGGAGAATCACAGGCCCTCCCCCAGAAGTAAAACAGGAGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATAGTTTTGACAGCTCTCCACCCC
|
CCCACCCCCACATCACCACCCCTTCCCACCAGACCAGCAGCAGTTTGGTGACTGAGGGAAAGTGGGAGCTCCGGGCCACACCCTGCCTCACTAGGTATGGGCATGCCACTCAGGGATAGCCCTCACCCTACCCCCCACCCAACCCGTCCAGGGGCTGGAGGGCAAACAGGCTCATGATGAGGTTGGGAAAACAGGAGGGAGATATCCTGGTCCTAGGTTTAGCTCCCTCCTGCCCCCATGTCCAGATGGAGAAGGAAGTCCTAGAGCAACTAGGGGCCAGTCATCCCCAATCTTCATCATCATTTGCCTCAACCACCATCCCATGCCCATAATTAAAAACAAAGATGGATTTTTTGTTGTTGTTTTTCTTCCTCCTCCTACCCCCCTTCCACCCACTCAGAAGAGGGCAGTGAGGTGGGGGAGAGGGTTGGGGCAGTAGGGGGCTTGGAGAGGGTCTCACATTTCAAAACAGCAAAAAATCCAACACTTAAATGAGGTAGGTGTGGGTGCGGGGTCTCCTTGCCCGGCTTGCCCAGCTTGCCCTCCTAGGCAGCTGGGCGCCTCTTTCCCGTTCATGTTGCATTTGTCAGAGTGGAAAACAAGGAAACACAACCCATAGAGAGACAGAAACACAGAGGAAAAGAGGGAAACAGAGACAGATCAAGAGGGAGGGGGATGGGGGTGAGGGTGGGGGCAGGACCCGGCAGGCAGGGCCAGGTGTGGGACCCGGCCTTTGGGATTGTCAAGCTTAGTCAAGTCTCTTTGCAGCCGTGAGTTGGGCCGGAGAGGTCAGTGGGAGCAGCAGGGCTGTGAGGCCCGGCCACACATCCTCTTCCCCCACCCTGCTGCCTCCCAGATGCTTCTGGGTAGTTCCCGGCCCATATCCCCCTCAAACCTGAGATGCCCAATGGCTGCTTCTGTCTGGCCCCTCCTGGAGCTGGGGGCAGAGATGCCAGCCTGAGGGCCGGTGGTGGGGAAGAGGATTGTCCCTGGTGCCCAGGGTGGGCTTGGCCTAGGGCCCTCTGCCCCAGCCTCCTGCTCCAGGGGCTCCGGGTCAGCCGGCAGCCCCAACCCTGGGTCCTGGCTCTGGCTGCTACCTCTCTTCCCCCTCATCCCTTTCAGGGAAGAGGTTGTGGGTAGGGGGACTCCCCTGCCTGGTAGCCTCAAAGCTTCTTAGTTCATCCATTTCCGACAATTCCAGGCTCCACAGTGGCAGGGGATCTTGTGCTGATCGTCCTCAAAATCAAACTGATAGTCATAGGTTAGCTGAAAAGAGAAGAGGGCAGAATCAATGCTAGTCCCCCACAGGAAGAGGGGAGGCCAGAGAAGATATGATCTGAGGTGCCCAGCCTAGGAATCCACATTTAGGGAATGGCAGAGAAGGGGTGAAAGGAGGAGGAGCTGCTTTGTCACTCAGTCAGGATACTTCCTCTCACCTCCTCTCCTTTGGGGATTCGCCGGCTGGAGATGATGATGATTTTGTCCTCTTTGTCAAATGTCACGACTTCGGCCACACAGTTAGGGGCACAGGAATGGTTAATGTACCTGGGCAGTGGGACAGAGTCAGGGATGTCAGGCAACTAACTTGGGACAATTTTGATTCCTTGTTCGTCTATCCCCCAGAGTGCCACTCTCAGGGACCACTAAATCCCTCCTTCCTCGTCATCTCTCACCTGGCAGGGCCGCCGGTCAACGTAGCATCAATCACATGTTCATTGTTTATTCGGAACATGTAGATGCCTCGATTCTAGAAAGGCAGAGGTTGCAGAAGAAGGGACAAGAGTATCAGAGAGTGGCAGTGGTGGCTGTGGGATCAGGTAGGAGACTCAGGCAGTGGGGGCTTTTGTTGCATGTACTTCATTTCTCCTGCCTTTCCCTTCTCCCCACCACAGCTTTCCTCCTGCTCTCCTGTGACCAATCCTGCCCTTGCTCCTTGGTTGAGTGCAGACTATGCACCACAATGGCCCCTCTGCCAGCTCATACCTGCTCTTCGTAGATTTTCTCCCGCCGGTTGGCCACCTCGTTCCGAATGATGGTGCCAATGTACTTGATAACCATTGTGTGCTTTTCTAGGTCCTTGGCTGCATAGAGCCCCAGGCCCTGGATACGGGAGCGAGCCAGGTACACGTTGTTCTTCCATTCGGTGCGCAGCCGCCGGTACTGAGATGACTTGGAGTGCACAAACTGCTTGCTGTAGGGGGTGTTGGTCTCGCCTGTGAAGGTGCTCTGATATGCCTTAGACATGCTGGTGCTGTTCAGGGTATGGGGCCTGGGAGGTGATATAATCCATGACAAGACAGCTCTCCCTCAGACCAAGTACATACCACCCACCTCCTCTGCCACCTCCTGGGATGTGCAACACACCAGTTAGGGGCGTGTGCTGCTGGCAAGCACTGGAAGTGCAGCCTTGGGAAAGGAGTAGAGGCAACTGGGTCTCAGCTCTGGTGAGGAAGCAACTAGCTACAGGGACCCTTCTGACACCCTGGGTGGCACAGAGAGCCCAGGGTGAGGGGTGGGGTGTGGAGGGAGATGGGGGGCACCAATTCCCCTACACTGAGCCTGTTCTCCCATCTCCCACTTCCTACCACTCTCCTGCCAAACCATTCTCAAGGCCATGCTCCTCTGGGAAGTTTTCCGCAAGCAGCCCAGGCCTAGAATTTAAGCTGATGGTTTGCTTGAATGTCTGAATCCTACCTCCTGCACATACTGGAAGCCCTGAAAATGGGGACTGTGCCTACCACGCTGGGCTAGATTTGAATTAAAACTGGCTGTGAACTCACAGCCTAAAGGTGGTATCCTTTCTTCGGACTGTCCCCTTCTCTGACATAACATTGGGCTCTGTGCAGATGGCTCAGTGCAGGGGAATGACGGCTGCCTGGCAGGATGCCTTTTACCACCTTAGGGCACCAGCCAAATTCTTGCCATCCCAGAGCAGTGGTTTTCAAACGTTTCTGGTTCTTTTTTTATTTAGCAGAAATCTTTGCTTTTTTCTTTAACAAAATGTTGACTGGAACTCCAATACATAAACTAGATGACAATGGAGCTCTTCTGGTTTAATCCAATTTGGGGAAGGAAGAGATATGCATGGGAAGGAAAAGTTCAACCCATCAGTTTAAGTGATCCAGGACTTTTTGGAACACAGGCACTCACAGTTTGAAAACCACCATTGCAGGGCATCAAGGACAAGGCTGGCTAGGGATGGAGAGTCTCTGACATTCTACAACAGCCTAGGAGCCACCAAAGACCTTCGAGAAAGCCCTGCTACCACAGATTCTGCCTCCCTCTACCCAGGGACTAAGGTCCCTGGTACACAGAAAGAACAAGGACCTGCAGTGAAGAAGTAAGGGTCTGGTCCCAGCTGTGTGACCTTTGCCTAGTCATTTAATCTTTCTGGGTCTCAGTTTTCTCAGCTGTAAAATGGGGGTCATACCACCTGCCCTACCTACCTCATAAGGTTGTTGTGAGGATCAAATGAGATAATGGATGTGAAAACGCTTTGAAAAAAAAAGTATAAAGTGCTATACAAATGTAAGGTTTTATTATTTTTCTATTATATCTCTAACTATTTATTTTTGACACCAACACTCATGGGGAAGGGAAGGTGACCCTAGCACCCATGGGGTATCTGAGGTTTGGGAGAATCACAGGCCCTCCCCCAGAAGTAAAACAGGAGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATAGTTTTGACAGCTCTCCACCCC
|
Task1_train_17557
|
Given this context: Chromosome 12, gene KMT2D (lysine methyltransferase 2D) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
|
Pathogenic; Kabuki syndrome
|
CCCTTGCTCCTTGGTTGAGTGCAGACTATGCACCACAATGGCCCCTCTGCCAGCTCATACCTGCTCTTCGTAGATTTTCTCCCGCCGGTTGGCCACCTCGTTCCGAATGATGGTGCCAATGTACTCGATAACCATTGTGTGCTTTTCTAGGTCCTTGGCTGCATAGAGCCCCAGGCCCTGGATACGGGAGCGAGCCAGGTACACGTTGTTCTTCCATTCGGTGCGCAGCCGCCGGTACTGAGATGACTTGGAGTGCACAAACTGCTTGCTGTAGGGGGTGTTGGTCTCGCCTGTGAAGGTGCTCTGATATGCCTTAGACATGCTGGTGCTGTTCAGGGTATGGGGCCTGGGAGGTGATATAATCCATGACAAGACAGCTCTCCCTCAGACCAAGTACATACCACCCACCTCCTCTGCCACCTCCTGGGATGTGCAACACACCAGTTAGGGGCGTGTGCTGCTGGCAAGCACTGGAAGTGCAGCCTTGGGAAAGGAGTAGAGGCAACTGGGTCTCAGCTCTGGTGAGGAAGCAACTAGCTACAGGGACCCTTCTGACACCCTGGGTGGCACAGAGAGCCCAGGGTGAGGGGTGGGGTGTGGAGGGAGATGGGGGGCACCAATTCCCCTACACTGAGCCTGTTCTCCCATCTCCCACTTCCTACCACTCTCCTGCCAAACCATTCTCAAGGCCATGCTCCTCTGGGAAGTTTTCCGCAAGCAGCCCAGGCCTAGAATTTAAGCTGATGGTTTGCTTGAATGTCTGAATCCTACCTCCTGCACATACTGGAAGCCCTGAAAATGGGGACTGTGCCTACCACGCTGGGCTAGATTTGAATTAAAACTGGCTGTGAACTCACAGCCTAAAGGTGGTATCCTTTCTTCGGACTGTCCCCTTCTCTGACATAACATTGGGCTCTGTGCAGATGGCTCAGTGCAGGGGAATGACGGCTGCCTGGCAGGATGCCTTTTACCACCTTAGGGCACCAGCCAAATTCTTGCCATCCCAGAGCAGTGGTTTTCAAACGTTTCTGGTTCTTTTTTTATTTAGCAGAAATCTTTGCTTTTTTCTTTAACAAAATGTTGACTGGAACTCCAATACATAAACTAGATGACAATGGAGCTCTTCTGGTTTAATCCAATTTGGGGAAGGAAGAGATATGCATGGGAAGGAAAAGTTCAACCCATCAGTTTAAGTGATCCAGGACTTTTTGGAACACAGGCACTCACAGTTTGAAAACCACCATTGCAGGGCATCAAGGACAAGGCTGGCTAGGGATGGAGAGTCTCTGACATTCTACAACAGCCTAGGAGCCACCAAAGACCTTCGAGAAAGCCCTGCTACCACAGATTCTGCCTCCCTCTACCCAGGGACTAAGGTCCCTGGTACACAGAAAGAACAAGGACCTGCAGTGAAGAAGTAAGGGTCTGGTCCCAGCTGTGTGACCTTTGCCTAGTCATTTAATCTTTCTGGGTCTCAGTTTTCTCAGCTGTAAAATGGGGGTCATACCACCTGCCCTACCTACCTCATAAGGTTGTTGTGAGGATCAAATGAGATAATGGATGTGAAAACGCTTTGAAAAAAAAAGTATAAAGTGCTATACAAATGTAAGGTTTTATTATTTTTCTATTATATCTCTAACTATTTATTTTTGACACCAACACTCATGGGGAAGGGAAGGTGACCCTAGCACCCATGGGGTATCTGAGGTTTGGGAGAATCACAGGCCCTCCCCCAGAAGTAAAACAGGAGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATAGTTTTGACAGCTCTCCACCCCGGGCAGCTGTGGGCACAGTTCATACTCACCTTAGCCTGAGTTTTTTTGGGGTTAGGCCAAAGTTCTCAGTGCCCGCCAAGCCCCCCAGCTCCCAGCCCCTTCCTTACTGATTCAGCTATGCGAAGCACGGCATGCACCGTCAGCCCAAAGAGCTCCTCGCCCTTCAGATACTCAGGGAAGAGTCGCAGCATGTCAGCCTCTTTTCTCATGGCAGCCACAGGCTCAATGATGCGATTCCACACGGCTAAGAAGCAGGGAAGAGAGCAGTCCTCAGAGGCAACTTCTGCTCACTGACCTCCAGTCCCTAACCCCAATCCAGAACTGCAGTTTTCTGAGGCCTTCAAGCCTCCCTATCATGAAGTTGTGTTGGTCTTCCAGATCCTCTCTTGGCCTCCTAGTCTCACTCTCTCTTAAGAAGCAGGAGGTTTCCAACCCCAAGGGGTCATCACAGAGCCTTGAGATACAAACCCAGGGCCCAGGAGACCCAGCATAGGCCATGGAAGGTCCCTAGTGAAAGAGCAGGCATGCTTTGGAGTTGGAAAGACTTGGGTTCAGGTTCTAGTACTGGTCATGAGACCTTGAGCCAAATACAGTCACGTGCAGCTTAACAACATTTCATTCAATGAGGAATCATATATACAACAGTGGTCTGGTAAGATTATAATACTGTACTGTATTTTTACTGTATCTTTTCTATGTCTAGATGCACATACTTACCGTATGTTACAACTGCCTACAGTATTCAGTACAGTTACATGCTGTACAGATTTGTAGCCTAGGAGCAATGGGGTATACCGCAGAGCCTAGGTGTGTAGTATGCTATGCCATCTAGGTTTGTGTAGTACACTCTATGAAGTTCACACAATGACAAAATCACCTAACAATGCATTTCTCAGAATGTATCCCTGTCATTTAGCAATGCACGACTGTACTGAAATCTGAGACTCAGTTTCTTTATGAACAAACTGGGCATAATCGTAGTATAATACTTACCTCATAGGGTTGTATGAACAAAATAAACTACACAAATCACTTAGCTTAGTTTGTGGCTCACAGTACACACTCAAAAAAAGGTACCTGCTCTTACTGTTATTTTATCATTAACACTAAAACTAAAATCAAAATAATTCTGATTTCGTCCAGGGAAAAACAACCCCAAGGAACTTGGTTAGGATTAGGTTGGGTGAGGCAGATGATAGTCTCAGAACTGTTTCCTTTTGTTCCACTGGGGATAGCAACAGAACTAGAATATGTGAGATTAGACCAGCAAAATATTTTCAACTACAAGGGAATTTAGGGTGACAAGAGAGGCTCAAACACTTTCACTGGGAGTTTTCAAGAGACCCCCTGCCTGCCTGAGGTGGGGGAAGGAGGATCATTCACATAGAAGCTACAGGTCCTCTTATAGACATTGTAACAGTGACCCTGGGAGAAACTTTTCCCATTCCATATTATCCATTTCAAGGGCCCACTGCTCACCCTGGGGAGAGGCGTCAGTGAAGACCAGGTCCTCCAGGCCCTGCTCGATGACTTTGATTACAAACTCCGGCCGCCCGTTGTTCTCACCAATAGAACAGCGATAGCAGCAGCGACGATTGTTGGTGCGGAGGCTCCAATAGATGCGCGTGGCCTCGTAGCCCACGGGATAGAGGGCAGTGGCACTATGAAAGTCAGCCATCTGGTGAGGCAGCAGCTGTCCGATGGCGTGGAACACAAGGCCCCCCACACGGAACATGTGCAGCCGTTCTCCCCGCTGAATGATGCTAGCGATTTGCTTCACCTCGTCCCGCTCAATGTAGACCCGCCGGAAGACAGCAAAAGAGCTCAGCTCTTGCTCACAGGGCCCCTTGATCTTATGCATTGGACACAGCATGGTCTTGTCCTTGAAGAACATGCACTTGGCACGGATGGCACAAGCAAAAT
|
CCCTTGCTCCTTGGTTGAGTGCAGACTATGCACCACAATGGCCCCTCTGCCAGCTCATACCTGCTCTTCGTAGATTTTCTCCCGCCGGTTGGCCACCTCGTTCCGAATGATGGTGCCAATGTACTCGATAACCATTGTGTGCTTTTCTAGGTCCTTGGCTGCATAGAGCCCCAGGCCCTGGATACGGGAGCGAGCCAGGTACACGTTGTTCTTCCATTCGGTGCGCAGCCGCCGGTACTGAGATGACTTGGAGTGCACAAACTGCTTGCTGTAGGGGGTGTTGGTCTCGCCTGTGAAGGTGCTCTGATATGCCTTAGACATGCTGGTGCTGTTCAGGGTATGGGGCCTGGGAGGTGATATAATCCATGACAAGACAGCTCTCCCTCAGACCAAGTACATACCACCCACCTCCTCTGCCACCTCCTGGGATGTGCAACACACCAGTTAGGGGCGTGTGCTGCTGGCAAGCACTGGAAGTGCAGCCTTGGGAAAGGAGTAGAGGCAACTGGGTCTCAGCTCTGGTGAGGAAGCAACTAGCTACAGGGACCCTTCTGACACCCTGGGTGGCACAGAGAGCCCAGGGTGAGGGGTGGGGTGTGGAGGGAGATGGGGGGCACCAATTCCCCTACACTGAGCCTGTTCTCCCATCTCCCACTTCCTACCACTCTCCTGCCAAACCATTCTCAAGGCCATGCTCCTCTGGGAAGTTTTCCGCAAGCAGCCCAGGCCTAGAATTTAAGCTGATGGTTTGCTTGAATGTCTGAATCCTACCTCCTGCACATACTGGAAGCCCTGAAAATGGGGACTGTGCCTACCACGCTGGGCTAGATTTGAATTAAAACTGGCTGTGAACTCACAGCCTAAAGGTGGTATCCTTTCTTCGGACTGTCCCCTTCTCTGACATAACATTGGGCTCTGTGCAGATGGCTCAGTGCAGGGGAATGACGGCTGCCTGGCAGGATGCCTTTTACCACCTTAGGGCACCAGCCAAATTCTTGCCATCCCAGAGCAGTGGTTTTCAAACGTTTCTGGTTCTTTTTTTATTTAGCAGAAATCTTTGCTTTTTTCTTTAACAAAATGTTGACTGGAACTCCAATACATAAACTAGATGACAATGGAGCTCTTCTGGTTTAATCCAATTTGGGGAAGGAAGAGATATGCATGGGAAGGAAAAGTTCAACCCATCAGTTTAAGTGATCCAGGACTTTTTGGAACACAGGCACTCACAGTTTGAAAACCACCATTGCAGGGCATCAAGGACAAGGCTGGCTAGGGATGGAGAGTCTCTGACATTCTACAACAGCCTAGGAGCCACCAAAGACCTTCGAGAAAGCCCTGCTACCACAGATTCTGCCTCCCTCTACCCAGGGACTAAGGTCCCTGGTACACAGAAAGAACAAGGACCTGCAGTGAAGAAGTAAGGGTCTGGTCCCAGCTGTGTGACCTTTGCCTAGTCATTTAATCTTTCTGGGTCTCAGTTTTCTCAGCTGTAAAATGGGGGTCATACCACCTGCCCTACCTACCTCATAAGGTTGTTGTGAGGATCAAATGAGATAATGGATGTGAAAACGCTTTGAAAAAAAAAGTATAAAGTGCTATACAAATGTAAGGTTTTATTATTTTTCTATTATATCTCTAACTATTTATTTTTGACACCAACACTCATGGGGAAGGGAAGGTGACCCTAGCACCCATGGGGTATCTGAGGTTTGGGAGAATCACAGGCCCTCCCCCAGAAGTAAAACAGGAGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACTGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATAGTTTTGACAGCTCTCCACCCCGGGCAGCTGTGGGCACAGTTCATACTCACCTTAGCCTGAGTTTTTTTGGGGTTAGGCCAAAGTTCTCAGTGCCCGCCAAGCCCCCCAGCTCCCAGCCCCTTCCTTACTGATTCAGCTATGCGAAGCACGGCATGCACCGTCAGCCCAAAGAGCTCCTCGCCCTTCAGATACTCAGGGAAGAGTCGCAGCATGTCAGCCTCTTTTCTCATGGCAGCCACAGGCTCAATGATGCGATTCCACACGGCTAAGAAGCAGGGAAGAGAGCAGTCCTCAGAGGCAACTTCTGCTCACTGACCTCCAGTCCCTAACCCCAATCCAGAACTGCAGTTTTCTGAGGCCTTCAAGCCTCCCTATCATGAAGTTGTGTTGGTCTTCCAGATCCTCTCTTGGCCTCCTAGTCTCACTCTCTCTTAAGAAGCAGGAGGTTTCCAACCCCAAGGGGTCATCACAGAGCCTTGAGATACAAACCCAGGGCCCAGGAGACCCAGCATAGGCCATGGAAGGTCCCTAGTGAAAGAGCAGGCATGCTTTGGAGTTGGAAAGACTTGGGTTCAGGTTCTAGTACTGGTCATGAGACCTTGAGCCAAATACAGTCACGTGCAGCTTAACAACATTTCATTCAATGAGGAATCATATATACAACAGTGGTCTGGTAAGATTATAATACTGTACTGTATTTTTACTGTATCTTTTCTATGTCTAGATGCACATACTTACCGTATGTTACAACTGCCTACAGTATTCAGTACAGTTACATGCTGTACAGATTTGTAGCCTAGGAGCAATGGGGTATACCGCAGAGCCTAGGTGTGTAGTATGCTATGCCATCTAGGTTTGTGTAGTACACTCTATGAAGTTCACACAATGACAAAATCACCTAACAATGCATTTCTCAGAATGTATCCCTGTCATTTAGCAATGCACGACTGTACTGAAATCTGAGACTCAGTTTCTTTATGAACAAACTGGGCATAATCGTAGTATAATACTTACCTCATAGGGTTGTATGAACAAAATAAACTACACAAATCACTTAGCTTAGTTTGTGGCTCACAGTACACACTCAAAAAAAGGTACCTGCTCTTACTGTTATTTTATCATTAACACTAAAACTAAAATCAAAATAATTCTGATTTCGTCCAGGGAAAAACAACCCCAAGGAACTTGGTTAGGATTAGGTTGGGTGAGGCAGATGATAGTCTCAGAACTGTTTCCTTTTGTTCCACTGGGGATAGCAACAGAACTAGAATATGTGAGATTAGACCAGCAAAATATTTTCAACTACAAGGGAATTTAGGGTGACAAGAGAGGCTCAAACACTTTCACTGGGAGTTTTCAAGAGACCCCCTGCCTGCCTGAGGTGGGGGAAGGAGGATCATTCACATAGAAGCTACAGGTCCTCTTATAGACATTGTAACAGTGACCCTGGGAGAAACTTTTCCCATTCCATATTATCCATTTCAAGGGCCCACTGCTCACCCTGGGGAGAGGCGTCAGTGAAGACCAGGTCCTCCAGGCCCTGCTCGATGACTTTGATTACAAACTCCGGCCGCCCGTTGTTCTCACCAATAGAACAGCGATAGCAGCAGCGACGATTGTTGGTGCGGAGGCTCCAATAGATGCGCGTGGCCTCGTAGCCCACGGGATAGAGGGCAGTGGCACTATGAAAGTCAGCCATCTGGTGAGGCAGCAGCTGTCCGATGGCGTGGAACACAAGGCCCCCCACACGGAACATGTGCAGCCGTTCTCCCCGCTGAATGATGCTAGCGATTTGCTTCACCTCGTCCCGCTCAATGTAGACCCGCCGGAAGACAGCAAAAGAGCTCAGCTCTTGCTCACAGGGCCCCTTGATCTTATGCATTGGACACAGCATGGTCTTGTCCTTGAAGAACATGCACTTGGCACGGATGGCACAAGCAAAAT
|
Task1_train_17558
|
A mutation in KMT2D (lysine methyltransferase 2D), located on Chromosome 12, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
|
Pathogenic; Kabuki syndrome 1
|
CCCTTGCTCCTTGGTTGAGTGCAGACTATGCACCACAATGGCCCCTCTGCCAGCTCATACCTGCTCTTCGTAGATTTTCTCCCGCCGGTTGGCCACCTCGTTCCGAATGATGGTGCCAATGTACTCGATAACCATTGTGTGCTTTTCTAGGTCCTTGGCTGCATAGAGCCCCAGGCCCTGGATACGGGAGCGAGCCAGGTACACGTTGTTCTTCCATTCGGTGCGCAGCCGCCGGTACTGAGATGACTTGGAGTGCACAAACTGCTTGCTGTAGGGGGTGTTGGTCTCGCCTGTGAAGGTGCTCTGATATGCCTTAGACATGCTGGTGCTGTTCAGGGTATGGGGCCTGGGAGGTGATATAATCCATGACAAGACAGCTCTCCCTCAGACCAAGTACATACCACCCACCTCCTCTGCCACCTCCTGGGATGTGCAACACACCAGTTAGGGGCGTGTGCTGCTGGCAAGCACTGGAAGTGCAGCCTTGGGAAAGGAGTAGAGGCAACTGGGTCTCAGCTCTGGTGAGGAAGCAACTAGCTACAGGGACCCTTCTGACACCCTGGGTGGCACAGAGAGCCCAGGGTGAGGGGTGGGGTGTGGAGGGAGATGGGGGGCACCAATTCCCCTACACTGAGCCTGTTCTCCCATCTCCCACTTCCTACCACTCTCCTGCCAAACCATTCTCAAGGCCATGCTCCTCTGGGAAGTTTTCCGCAAGCAGCCCAGGCCTAGAATTTAAGCTGATGGTTTGCTTGAATGTCTGAATCCTACCTCCTGCACATACTGGAAGCCCTGAAAATGGGGACTGTGCCTACCACGCTGGGCTAGATTTGAATTAAAACTGGCTGTGAACTCACAGCCTAAAGGTGGTATCCTTTCTTCGGACTGTCCCCTTCTCTGACATAACATTGGGCTCTGTGCAGATGGCTCAGTGCAGGGGAATGACGGCTGCCTGGCAGGATGCCTTTTACCACCTTAGGGCACCAGCCAAATTCTTGCCATCCCAGAGCAGTGGTTTTCAAACGTTTCTGGTTCTTTTTTTATTTAGCAGAAATCTTTGCTTTTTTCTTTAACAAAATGTTGACTGGAACTCCAATACATAAACTAGATGACAATGGAGCTCTTCTGGTTTAATCCAATTTGGGGAAGGAAGAGATATGCATGGGAAGGAAAAGTTCAACCCATCAGTTTAAGTGATCCAGGACTTTTTGGAACACAGGCACTCACAGTTTGAAAACCACCATTGCAGGGCATCAAGGACAAGGCTGGCTAGGGATGGAGAGTCTCTGACATTCTACAACAGCCTAGGAGCCACCAAAGACCTTCGAGAAAGCCCTGCTACCACAGATTCTGCCTCCCTCTACCCAGGGACTAAGGTCCCTGGTACACAGAAAGAACAAGGACCTGCAGTGAAGAAGTAAGGGTCTGGTCCCAGCTGTGTGACCTTTGCCTAGTCATTTAATCTTTCTGGGTCTCAGTTTTCTCAGCTGTAAAATGGGGGTCATACCACCTGCCCTACCTACCTCATAAGGTTGTTGTGAGGATCAAATGAGATAATGGATGTGAAAACGCTTTGAAAAAAAAAGTATAAAGTGCTATACAAATGTAAGGTTTTATTATTTTTCTATTATATCTCTAACTATTTATTTTTGACACCAACACTCATGGGGAAGGGAAGGTGACCCTAGCACCCATGGGGTATCTGAGGTTTGGGAGAATCACAGGCCCTCCCCCAGAAGTAAAACAGGAGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATAGTTTTGACAGCTCTCCACCCCGGGCAGCTGTGGGCACAGTTCATACTCACCTTAGCCTGAGTTTTTTTGGGGTTAGGCCAAAGTTCTCAGTGCCCGCCAAGCCCCCCAGCTCCCAGCCCCTTCCTTACTGATTCAGCTATGCGAAGCACGGCATGCACCGTCAGCCCAAAGAGCTCCTCGCCCTTCAGATACTCAGGGAAGAGTCGCAGCATGTCAGCCTCTTTTCTCATGGCAGCCACAGGCTCAATGATGCGATTCCACACGGCTAAGAAGCAGGGAAGAGAGCAGTCCTCAGAGGCAACTTCTGCTCACTGACCTCCAGTCCCTAACCCCAATCCAGAACTGCAGTTTTCTGAGGCCTTCAAGCCTCCCTATCATGAAGTTGTGTTGGTCTTCCAGATCCTCTCTTGGCCTCCTAGTCTCACTCTCTCTTAAGAAGCAGGAGGTTTCCAACCCCAAGGGGTCATCACAGAGCCTTGAGATACAAACCCAGGGCCCAGGAGACCCAGCATAGGCCATGGAAGGTCCCTAGTGAAAGAGCAGGCATGCTTTGGAGTTGGAAAGACTTGGGTTCAGGTTCTAGTACTGGTCATGAGACCTTGAGCCAAATACAGTCACGTGCAGCTTAACAACATTTCATTCAATGAGGAATCATATATACAACAGTGGTCTGGTAAGATTATAATACTGTACTGTATTTTTACTGTATCTTTTCTATGTCTAGATGCACATACTTACCGTATGTTACAACTGCCTACAGTATTCAGTACAGTTACATGCTGTACAGATTTGTAGCCTAGGAGCAATGGGGTATACCGCAGAGCCTAGGTGTGTAGTATGCTATGCCATCTAGGTTTGTGTAGTACACTCTATGAAGTTCACACAATGACAAAATCACCTAACAATGCATTTCTCAGAATGTATCCCTGTCATTTAGCAATGCACGACTGTACTGAAATCTGAGACTCAGTTTCTTTATGAACAAACTGGGCATAATCGTAGTATAATACTTACCTCATAGGGTTGTATGAACAAAATAAACTACACAAATCACTTAGCTTAGTTTGTGGCTCACAGTACACACTCAAAAAAAGGTACCTGCTCTTACTGTTATTTTATCATTAACACTAAAACTAAAATCAAAATAATTCTGATTTCGTCCAGGGAAAAACAACCCCAAGGAACTTGGTTAGGATTAGGTTGGGTGAGGCAGATGATAGTCTCAGAACTGTTTCCTTTTGTTCCACTGGGGATAGCAACAGAACTAGAATATGTGAGATTAGACCAGCAAAATATTTTCAACTACAAGGGAATTTAGGGTGACAAGAGAGGCTCAAACACTTTCACTGGGAGTTTTCAAGAGACCCCCTGCCTGCCTGAGGTGGGGGAAGGAGGATCATTCACATAGAAGCTACAGGTCCTCTTATAGACATTGTAACAGTGACCCTGGGAGAAACTTTTCCCATTCCATATTATCCATTTCAAGGGCCCACTGCTCACCCTGGGGAGAGGCGTCAGTGAAGACCAGGTCCTCCAGGCCCTGCTCGATGACTTTGATTACAAACTCCGGCCGCCCGTTGTTCTCACCAATAGAACAGCGATAGCAGCAGCGACGATTGTTGGTGCGGAGGCTCCAATAGATGCGCGTGGCCTCGTAGCCCACGGGATAGAGGGCAGTGGCACTATGAAAGTCAGCCATCTGGTGAGGCAGCAGCTGTCCGATGGCGTGGAACACAAGGCCCCCCACACGGAACATGTGCAGCCGTTCTCCCCGCTGAATGATGCTAGCGATTTGCTTCACCTCGTCCCGCTCAATGTAGACCCGCCGGAAGACAGCAAAAGAGCTCAGCTCTTGCTCACAGGGCCCCTTGATCTTATGCATTGGACACAGCATGGTCTTGTCCTTGAAGAACATGCACTTGGCACGGATGGCACAAGCAAAAT
|
CCCTTGCTCCTTGGTTGAGTGCAGACTATGCACCACAATGGCCCCTCTGCCAGCTCATACCTGCTCTTCGTAGATTTTCTCCCGCCGGTTGGCCACCTCGTTCCGAATGATGGTGCCAATGTACTCGATAACCATTGTGTGCTTTTCTAGGTCCTTGGCTGCATAGAGCCCCAGGCCCTGGATACGGGAGCGAGCCAGGTACACGTTGTTCTTCCATTCGGTGCGCAGCCGCCGGTACTGAGATGACTTGGAGTGCACAAACTGCTTGCTGTAGGGGGTGTTGGTCTCGCCTGTGAAGGTGCTCTGATATGCCTTAGACATGCTGGTGCTGTTCAGGGTATGGGGCCTGGGAGGTGATATAATCCATGACAAGACAGCTCTCCCTCAGACCAAGTACATACCACCCACCTCCTCTGCCACCTCCTGGGATGTGCAACACACCAGTTAGGGGCGTGTGCTGCTGGCAAGCACTGGAAGTGCAGCCTTGGGAAAGGAGTAGAGGCAACTGGGTCTCAGCTCTGGTGAGGAAGCAACTAGCTACAGGGACCCTTCTGACACCCTGGGTGGCACAGAGAGCCCAGGGTGAGGGGTGGGGTGTGGAGGGAGATGGGGGGCACCAATTCCCCTACACTGAGCCTGTTCTCCCATCTCCCACTTCCTACCACTCTCCTGCCAAACCATTCTCAAGGCCATGCTCCTCTGGGAAGTTTTCCGCAAGCAGCCCAGGCCTAGAATTTAAGCTGATGGTTTGCTTGAATGTCTGAATCCTACCTCCTGCACATACTGGAAGCCCTGAAAATGGGGACTGTGCCTACCACGCTGGGCTAGATTTGAATTAAAACTGGCTGTGAACTCACAGCCTAAAGGTGGTATCCTTTCTTCGGACTGTCCCCTTCTCTGACATAACATTGGGCTCTGTGCAGATGGCTCAGTGCAGGGGAATGACGGCTGCCTGGCAGGATGCCTTTTACCACCTTAGGGCACCAGCCAAATTCTTGCCATCCCAGAGCAGTGGTTTTCAAACGTTTCTGGTTCTTTTTTTATTTAGCAGAAATCTTTGCTTTTTTCTTTAACAAAATGTTGACTGGAACTCCAATACATAAACTAGATGACAATGGAGCTCTTCTGGTTTAATCCAATTTGGGGAAGGAAGAGATATGCATGGGAAGGAAAAGTTCAACCCATCAGTTTAAGTGATCCAGGACTTTTTGGAACACAGGCACTCACAGTTTGAAAACCACCATTGCAGGGCATCAAGGACAAGGCTGGCTAGGGATGGAGAGTCTCTGACATTCTACAACAGCCTAGGAGCCACCAAAGACCTTCGAGAAAGCCCTGCTACCACAGATTCTGCCTCCCTCTACCCAGGGACTAAGGTCCCTGGTACACAGAAAGAACAAGGACCTGCAGTGAAGAAGTAAGGGTCTGGTCCCAGCTGTGTGACCTTTGCCTAGTCATTTAATCTTTCTGGGTCTCAGTTTTCTCAGCTGTAAAATGGGGGTCATACCACCTGCCCTACCTACCTCATAAGGTTGTTGTGAGGATCAAATGAGATAATGGATGTGAAAACGCTTTGAAAAAAAAAGTATAAAGTGCTATACAAATGTAAGGTTTTATTATTTTTCTATTATATCTCTAACTATTTATTTTTGACACCAACACTCATGGGGAAGGGAAGGTGACCCTAGCACCCATGGGGTATCTGAGGTTTGGGAGAATCACAGGCCCTCCCCCAGAAGTAAAACAGGAGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACTGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATAGTTTTGACAGCTCTCCACCCCGGGCAGCTGTGGGCACAGTTCATACTCACCTTAGCCTGAGTTTTTTTGGGGTTAGGCCAAAGTTCTCAGTGCCCGCCAAGCCCCCCAGCTCCCAGCCCCTTCCTTACTGATTCAGCTATGCGAAGCACGGCATGCACCGTCAGCCCAAAGAGCTCCTCGCCCTTCAGATACTCAGGGAAGAGTCGCAGCATGTCAGCCTCTTTTCTCATGGCAGCCACAGGCTCAATGATGCGATTCCACACGGCTAAGAAGCAGGGAAGAGAGCAGTCCTCAGAGGCAACTTCTGCTCACTGACCTCCAGTCCCTAACCCCAATCCAGAACTGCAGTTTTCTGAGGCCTTCAAGCCTCCCTATCATGAAGTTGTGTTGGTCTTCCAGATCCTCTCTTGGCCTCCTAGTCTCACTCTCTCTTAAGAAGCAGGAGGTTTCCAACCCCAAGGGGTCATCACAGAGCCTTGAGATACAAACCCAGGGCCCAGGAGACCCAGCATAGGCCATGGAAGGTCCCTAGTGAAAGAGCAGGCATGCTTTGGAGTTGGAAAGACTTGGGTTCAGGTTCTAGTACTGGTCATGAGACCTTGAGCCAAATACAGTCACGTGCAGCTTAACAACATTTCATTCAATGAGGAATCATATATACAACAGTGGTCTGGTAAGATTATAATACTGTACTGTATTTTTACTGTATCTTTTCTATGTCTAGATGCACATACTTACCGTATGTTACAACTGCCTACAGTATTCAGTACAGTTACATGCTGTACAGATTTGTAGCCTAGGAGCAATGGGGTATACCGCAGAGCCTAGGTGTGTAGTATGCTATGCCATCTAGGTTTGTGTAGTACACTCTATGAAGTTCACACAATGACAAAATCACCTAACAATGCATTTCTCAGAATGTATCCCTGTCATTTAGCAATGCACGACTGTACTGAAATCTGAGACTCAGTTTCTTTATGAACAAACTGGGCATAATCGTAGTATAATACTTACCTCATAGGGTTGTATGAACAAAATAAACTACACAAATCACTTAGCTTAGTTTGTGGCTCACAGTACACACTCAAAAAAAGGTACCTGCTCTTACTGTTATTTTATCATTAACACTAAAACTAAAATCAAAATAATTCTGATTTCGTCCAGGGAAAAACAACCCCAAGGAACTTGGTTAGGATTAGGTTGGGTGAGGCAGATGATAGTCTCAGAACTGTTTCCTTTTGTTCCACTGGGGATAGCAACAGAACTAGAATATGTGAGATTAGACCAGCAAAATATTTTCAACTACAAGGGAATTTAGGGTGACAAGAGAGGCTCAAACACTTTCACTGGGAGTTTTCAAGAGACCCCCTGCCTGCCTGAGGTGGGGGAAGGAGGATCATTCACATAGAAGCTACAGGTCCTCTTATAGACATTGTAACAGTGACCCTGGGAGAAACTTTTCCCATTCCATATTATCCATTTCAAGGGCCCACTGCTCACCCTGGGGAGAGGCGTCAGTGAAGACCAGGTCCTCCAGGCCCTGCTCGATGACTTTGATTACAAACTCCGGCCGCCCGTTGTTCTCACCAATAGAACAGCGATAGCAGCAGCGACGATTGTTGGTGCGGAGGCTCCAATAGATGCGCGTGGCCTCGTAGCCCACGGGATAGAGGGCAGTGGCACTATGAAAGTCAGCCATCTGGTGAGGCAGCAGCTGTCCGATGGCGTGGAACACAAGGCCCCCCACACGGAACATGTGCAGCCGTTCTCCCCGCTGAATGATGCTAGCGATTTGCTTCACCTCGTCCCGCTCAATGTAGACCCGCCGGAAGACAGCAAAAGAGCTCAGCTCTTGCTCACAGGGCCCCTTGATCTTATGCATTGGACACAGCATGGTCTTGTCCTTGAAGAACATGCACTTGGCACGGATGGCACAAGCAAAAT
|
Task1_train_17559
|
Here is a genetic alteration in KMT2D (lysine methyltransferase 2D) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; Kabuki syndrome
|
GGCCCCTCTGCCAGCTCATACCTGCTCTTCGTAGATTTTCTCCCGCCGGTTGGCCACCTCGTTCCGAATGATGGTGCCAATGTACTCGATAACCATTGTGTGCTTTTCTAGGTCCTTGGCTGCATAGAGCCCCAGGCCCTGGATACGGGAGCGAGCCAGGTACACGTTGTTCTTCCATTCGGTGCGCAGCCGCCGGTACTGAGATGACTTGGAGTGCACAAACTGCTTGCTGTAGGGGGTGTTGGTCTCGCCTGTGAAGGTGCTCTGATATGCCTTAGACATGCTGGTGCTGTTCAGGGTATGGGGCCTGGGAGGTGATATAATCCATGACAAGACAGCTCTCCCTCAGACCAAGTACATACCACCCACCTCCTCTGCCACCTCCTGGGATGTGCAACACACCAGTTAGGGGCGTGTGCTGCTGGCAAGCACTGGAAGTGCAGCCTTGGGAAAGGAGTAGAGGCAACTGGGTCTCAGCTCTGGTGAGGAAGCAACTAGCTACAGGGACCCTTCTGACACCCTGGGTGGCACAGAGAGCCCAGGGTGAGGGGTGGGGTGTGGAGGGAGATGGGGGGCACCAATTCCCCTACACTGAGCCTGTTCTCCCATCTCCCACTTCCTACCACTCTCCTGCCAAACCATTCTCAAGGCCATGCTCCTCTGGGAAGTTTTCCGCAAGCAGCCCAGGCCTAGAATTTAAGCTGATGGTTTGCTTGAATGTCTGAATCCTACCTCCTGCACATACTGGAAGCCCTGAAAATGGGGACTGTGCCTACCACGCTGGGCTAGATTTGAATTAAAACTGGCTGTGAACTCACAGCCTAAAGGTGGTATCCTTTCTTCGGACTGTCCCCTTCTCTGACATAACATTGGGCTCTGTGCAGATGGCTCAGTGCAGGGGAATGACGGCTGCCTGGCAGGATGCCTTTTACCACCTTAGGGCACCAGCCAAATTCTTGCCATCCCAGAGCAGTGGTTTTCAAACGTTTCTGGTTCTTTTTTTATTTAGCAGAAATCTTTGCTTTTTTCTTTAACAAAATGTTGACTGGAACTCCAATACATAAACTAGATGACAATGGAGCTCTTCTGGTTTAATCCAATTTGGGGAAGGAAGAGATATGCATGGGAAGGAAAAGTTCAACCCATCAGTTTAAGTGATCCAGGACTTTTTGGAACACAGGCACTCACAGTTTGAAAACCACCATTGCAGGGCATCAAGGACAAGGCTGGCTAGGGATGGAGAGTCTCTGACATTCTACAACAGCCTAGGAGCCACCAAAGACCTTCGAGAAAGCCCTGCTACCACAGATTCTGCCTCCCTCTACCCAGGGACTAAGGTCCCTGGTACACAGAAAGAACAAGGACCTGCAGTGAAGAAGTAAGGGTCTGGTCCCAGCTGTGTGACCTTTGCCTAGTCATTTAATCTTTCTGGGTCTCAGTTTTCTCAGCTGTAAAATGGGGGTCATACCACCTGCCCTACCTACCTCATAAGGTTGTTGTGAGGATCAAATGAGATAATGGATGTGAAAACGCTTTGAAAAAAAAAGTATAAAGTGCTATACAAATGTAAGGTTTTATTATTTTTCTATTATATCTCTAACTATTTATTTTTGACACCAACACTCATGGGGAAGGGAAGGTGACCCTAGCACCCATGGGGTATCTGAGGTTTGGGAGAATCACAGGCCCTCCCCCAGAAGTAAAACAGGAGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATAGTTTTGACAGCTCTCCACCCCGGGCAGCTGTGGGCACAGTTCATACTCACCTTAGCCTGAGTTTTTTTGGGGTTAGGCCAAAGTTCTCAGTGCCCGCCAAGCCCCCCAGCTCCCAGCCCCTTCCTTACTGATTCAGCTATGCGAAGCACGGCATGCACCGTCAGCCCAAAGAGCTCCTCGCCCTTCAGATACTCAGGGAAGAGTCGCAGCATGTCAGCCTCTTTTCTCATGGCAGCCACAGGCTCAATGATGCGATTCCACACGGCTAAGAAGCAGGGAAGAGAGCAGTCCTCAGAGGCAACTTCTGCTCACTGACCTCCAGTCCCTAACCCCAATCCAGAACTGCAGTTTTCTGAGGCCTTCAAGCCTCCCTATCATGAAGTTGTGTTGGTCTTCCAGATCCTCTCTTGGCCTCCTAGTCTCACTCTCTCTTAAGAAGCAGGAGGTTTCCAACCCCAAGGGGTCATCACAGAGCCTTGAGATACAAACCCAGGGCCCAGGAGACCCAGCATAGGCCATGGAAGGTCCCTAGTGAAAGAGCAGGCATGCTTTGGAGTTGGAAAGACTTGGGTTCAGGTTCTAGTACTGGTCATGAGACCTTGAGCCAAATACAGTCACGTGCAGCTTAACAACATTTCATTCAATGAGGAATCATATATACAACAGTGGTCTGGTAAGATTATAATACTGTACTGTATTTTTACTGTATCTTTTCTATGTCTAGATGCACATACTTACCGTATGTTACAACTGCCTACAGTATTCAGTACAGTTACATGCTGTACAGATTTGTAGCCTAGGAGCAATGGGGTATACCGCAGAGCCTAGGTGTGTAGTATGCTATGCCATCTAGGTTTGTGTAGTACACTCTATGAAGTTCACACAATGACAAAATCACCTAACAATGCATTTCTCAGAATGTATCCCTGTCATTTAGCAATGCACGACTGTACTGAAATCTGAGACTCAGTTTCTTTATGAACAAACTGGGCATAATCGTAGTATAATACTTACCTCATAGGGTTGTATGAACAAAATAAACTACACAAATCACTTAGCTTAGTTTGTGGCTCACAGTACACACTCAAAAAAAGGTACCTGCTCTTACTGTTATTTTATCATTAACACTAAAACTAAAATCAAAATAATTCTGATTTCGTCCAGGGAAAAACAACCCCAAGGAACTTGGTTAGGATTAGGTTGGGTGAGGCAGATGATAGTCTCAGAACTGTTTCCTTTTGTTCCACTGGGGATAGCAACAGAACTAGAATATGTGAGATTAGACCAGCAAAATATTTTCAACTACAAGGGAATTTAGGGTGACAAGAGAGGCTCAAACACTTTCACTGGGAGTTTTCAAGAGACCCCCTGCCTGCCTGAGGTGGGGGAAGGAGGATCATTCACATAGAAGCTACAGGTCCTCTTATAGACATTGTAACAGTGACCCTGGGAGAAACTTTTCCCATTCCATATTATCCATTTCAAGGGCCCACTGCTCACCCTGGGGAGAGGCGTCAGTGAAGACCAGGTCCTCCAGGCCCTGCTCGATGACTTTGATTACAAACTCCGGCCGCCCGTTGTTCTCACCAATAGAACAGCGATAGCAGCAGCGACGATTGTTGGTGCGGAGGCTCCAATAGATGCGCGTGGCCTCGTAGCCCACGGGATAGAGGGCAGTGGCACTATGAAAGTCAGCCATCTGGTGAGGCAGCAGCTGTCCGATGGCGTGGAACACAAGGCCCCCCACACGGAACATGTGCAGCCGTTCTCCCCGCTGAATGATGCTAGCGATTTGCTTCACCTCGTCCCGCTCAATGTAGACCCGCCGGAAGACAGCAAAAGAGCTCAGCTCTTGCTCACAGGGCCCCTTGATCTTATGCATTGGACACAGCATGGTCTTGTCCTTGAAGAACATGCACTTGGCACGGATGGCACAAGCAAAATGGTAGACATTGGGGCAACGCATGCGATTGCAGCTGCTGG
|
GGCCCCTCTGCCAGCTCATACCTGCTCTTCGTAGATTTTCTCCCGCCGGTTGGCCACCTCGTTCCGAATGATGGTGCCAATGTACTCGATAACCATTGTGTGCTTTTCTAGGTCCTTGGCTGCATAGAGCCCCAGGCCCTGGATACGGGAGCGAGCCAGGTACACGTTGTTCTTCCATTCGGTGCGCAGCCGCCGGTACTGAGATGACTTGGAGTGCACAAACTGCTTGCTGTAGGGGGTGTTGGTCTCGCCTGTGAAGGTGCTCTGATATGCCTTAGACATGCTGGTGCTGTTCAGGGTATGGGGCCTGGGAGGTGATATAATCCATGACAAGACAGCTCTCCCTCAGACCAAGTACATACCACCCACCTCCTCTGCCACCTCCTGGGATGTGCAACACACCAGTTAGGGGCGTGTGCTGCTGGCAAGCACTGGAAGTGCAGCCTTGGGAAAGGAGTAGAGGCAACTGGGTCTCAGCTCTGGTGAGGAAGCAACTAGCTACAGGGACCCTTCTGACACCCTGGGTGGCACAGAGAGCCCAGGGTGAGGGGTGGGGTGTGGAGGGAGATGGGGGGCACCAATTCCCCTACACTGAGCCTGTTCTCCCATCTCCCACTTCCTACCACTCTCCTGCCAAACCATTCTCAAGGCCATGCTCCTCTGGGAAGTTTTCCGCAAGCAGCCCAGGCCTAGAATTTAAGCTGATGGTTTGCTTGAATGTCTGAATCCTACCTCCTGCACATACTGGAAGCCCTGAAAATGGGGACTGTGCCTACCACGCTGGGCTAGATTTGAATTAAAACTGGCTGTGAACTCACAGCCTAAAGGTGGTATCCTTTCTTCGGACTGTCCCCTTCTCTGACATAACATTGGGCTCTGTGCAGATGGCTCAGTGCAGGGGAATGACGGCTGCCTGGCAGGATGCCTTTTACCACCTTAGGGCACCAGCCAAATTCTTGCCATCCCAGAGCAGTGGTTTTCAAACGTTTCTGGTTCTTTTTTTATTTAGCAGAAATCTTTGCTTTTTTCTTTAACAAAATGTTGACTGGAACTCCAATACATAAACTAGATGACAATGGAGCTCTTCTGGTTTAATCCAATTTGGGGAAGGAAGAGATATGCATGGGAAGGAAAAGTTCAACCCATCAGTTTAAGTGATCCAGGACTTTTTGGAACACAGGCACTCACAGTTTGAAAACCACCATTGCAGGGCATCAAGGACAAGGCTGGCTAGGGATGGAGAGTCTCTGACATTCTACAACAGCCTAGGAGCCACCAAAGACCTTCGAGAAAGCCCTGCTACCACAGATTCTGCCTCCCTCTACCCAGGGACTAAGGTCCCTGGTACACAGAAAGAACAAGGACCTGCAGTGAAGAAGTAAGGGTCTGGTCCCAGCTGTGTGACCTTTGCCTAGTCATTTAATCTTTCTGGGTCTCAGTTTTCTCAGCTGTAAAATGGGGGTCATACCACCTGCCCTACCTACCTCATAAGGTTGTTGTGAGGATCAAATGAGATAATGGATGTGAAAACGCTTTGAAAAAAAAAGTATAAAGTGCTATACAAATGTAAGGTTTTATTATTTTTCTATTATATCTCTAACTATTTATTTTTGACACCAACACTCATGGGGAAGGGAAGGTGACCCTAGCACCCATGGGGTATCTGAGGTTTGGGAGAATCACAGGCCCTCCCCCAGAAGTAAAACAGGAGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCATAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATAGTTTTGACAGCTCTCCACCCCGGGCAGCTGTGGGCACAGTTCATACTCACCTTAGCCTGAGTTTTTTTGGGGTTAGGCCAAAGTTCTCAGTGCCCGCCAAGCCCCCCAGCTCCCAGCCCCTTCCTTACTGATTCAGCTATGCGAAGCACGGCATGCACCGTCAGCCCAAAGAGCTCCTCGCCCTTCAGATACTCAGGGAAGAGTCGCAGCATGTCAGCCTCTTTTCTCATGGCAGCCACAGGCTCAATGATGCGATTCCACACGGCTAAGAAGCAGGGAAGAGAGCAGTCCTCAGAGGCAACTTCTGCTCACTGACCTCCAGTCCCTAACCCCAATCCAGAACTGCAGTTTTCTGAGGCCTTCAAGCCTCCCTATCATGAAGTTGTGTTGGTCTTCCAGATCCTCTCTTGGCCTCCTAGTCTCACTCTCTCTTAAGAAGCAGGAGGTTTCCAACCCCAAGGGGTCATCACAGAGCCTTGAGATACAAACCCAGGGCCCAGGAGACCCAGCATAGGCCATGGAAGGTCCCTAGTGAAAGAGCAGGCATGCTTTGGAGTTGGAAAGACTTGGGTTCAGGTTCTAGTACTGGTCATGAGACCTTGAGCCAAATACAGTCACGTGCAGCTTAACAACATTTCATTCAATGAGGAATCATATATACAACAGTGGTCTGGTAAGATTATAATACTGTACTGTATTTTTACTGTATCTTTTCTATGTCTAGATGCACATACTTACCGTATGTTACAACTGCCTACAGTATTCAGTACAGTTACATGCTGTACAGATTTGTAGCCTAGGAGCAATGGGGTATACCGCAGAGCCTAGGTGTGTAGTATGCTATGCCATCTAGGTTTGTGTAGTACACTCTATGAAGTTCACACAATGACAAAATCACCTAACAATGCATTTCTCAGAATGTATCCCTGTCATTTAGCAATGCACGACTGTACTGAAATCTGAGACTCAGTTTCTTTATGAACAAACTGGGCATAATCGTAGTATAATACTTACCTCATAGGGTTGTATGAACAAAATAAACTACACAAATCACTTAGCTTAGTTTGTGGCTCACAGTACACACTCAAAAAAAGGTACCTGCTCTTACTGTTATTTTATCATTAACACTAAAACTAAAATCAAAATAATTCTGATTTCGTCCAGGGAAAAACAACCCCAAGGAACTTGGTTAGGATTAGGTTGGGTGAGGCAGATGATAGTCTCAGAACTGTTTCCTTTTGTTCCACTGGGGATAGCAACAGAACTAGAATATGTGAGATTAGACCAGCAAAATATTTTCAACTACAAGGGAATTTAGGGTGACAAGAGAGGCTCAAACACTTTCACTGGGAGTTTTCAAGAGACCCCCTGCCTGCCTGAGGTGGGGGAAGGAGGATCATTCACATAGAAGCTACAGGTCCTCTTATAGACATTGTAACAGTGACCCTGGGAGAAACTTTTCCCATTCCATATTATCCATTTCAAGGGCCCACTGCTCACCCTGGGGAGAGGCGTCAGTGAAGACCAGGTCCTCCAGGCCCTGCTCGATGACTTTGATTACAAACTCCGGCCGCCCGTTGTTCTCACCAATAGAACAGCGATAGCAGCAGCGACGATTGTTGGTGCGGAGGCTCCAATAGATGCGCGTGGCCTCGTAGCCCACGGGATAGAGGGCAGTGGCACTATGAAAGTCAGCCATCTGGTGAGGCAGCAGCTGTCCGATGGCGTGGAACACAAGGCCCCCCACACGGAACATGTGCAGCCGTTCTCCCCGCTGAATGATGCTAGCGATTTGCTTCACCTCGTCCCGCTCAATGTAGACCCGCCGGAAGACAGCAAAAGAGCTCAGCTCTTGCTCACAGGGCCCCTTGATCTTATGCATTGGACACAGCATGGTCTTGTCCTTGAAGAACATGCACTTGGCACGGATGGCACAAGCAAAATGGTAGACATTGGGGCAACGCATGCGATTGCAGCTGCTGG
|
Task1_train_17560
|
This alteration in KMT2D (lysine methyltransferase 2D) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; Kabuki syndrome
|
GGGTGTTGGTCTCGCCTGTGAAGGTGCTCTGATATGCCTTAGACATGCTGGTGCTGTTCAGGGTATGGGGCCTGGGAGGTGATATAATCCATGACAAGACAGCTCTCCCTCAGACCAAGTACATACCACCCACCTCCTCTGCCACCTCCTGGGATGTGCAACACACCAGTTAGGGGCGTGTGCTGCTGGCAAGCACTGGAAGTGCAGCCTTGGGAAAGGAGTAGAGGCAACTGGGTCTCAGCTCTGGTGAGGAAGCAACTAGCTACAGGGACCCTTCTGACACCCTGGGTGGCACAGAGAGCCCAGGGTGAGGGGTGGGGTGTGGAGGGAGATGGGGGGCACCAATTCCCCTACACTGAGCCTGTTCTCCCATCTCCCACTTCCTACCACTCTCCTGCCAAACCATTCTCAAGGCCATGCTCCTCTGGGAAGTTTTCCGCAAGCAGCCCAGGCCTAGAATTTAAGCTGATGGTTTGCTTGAATGTCTGAATCCTACCTCCTGCACATACTGGAAGCCCTGAAAATGGGGACTGTGCCTACCACGCTGGGCTAGATTTGAATTAAAACTGGCTGTGAACTCACAGCCTAAAGGTGGTATCCTTTCTTCGGACTGTCCCCTTCTCTGACATAACATTGGGCTCTGTGCAGATGGCTCAGTGCAGGGGAATGACGGCTGCCTGGCAGGATGCCTTTTACCACCTTAGGGCACCAGCCAAATTCTTGCCATCCCAGAGCAGTGGTTTTCAAACGTTTCTGGTTCTTTTTTTATTTAGCAGAAATCTTTGCTTTTTTCTTTAACAAAATGTTGACTGGAACTCCAATACATAAACTAGATGACAATGGAGCTCTTCTGGTTTAATCCAATTTGGGGAAGGAAGAGATATGCATGGGAAGGAAAAGTTCAACCCATCAGTTTAAGTGATCCAGGACTTTTTGGAACACAGGCACTCACAGTTTGAAAACCACCATTGCAGGGCATCAAGGACAAGGCTGGCTAGGGATGGAGAGTCTCTGACATTCTACAACAGCCTAGGAGCCACCAAAGACCTTCGAGAAAGCCCTGCTACCACAGATTCTGCCTCCCTCTACCCAGGGACTAAGGTCCCTGGTACACAGAAAGAACAAGGACCTGCAGTGAAGAAGTAAGGGTCTGGTCCCAGCTGTGTGACCTTTGCCTAGTCATTTAATCTTTCTGGGTCTCAGTTTTCTCAGCTGTAAAATGGGGGTCATACCACCTGCCCTACCTACCTCATAAGGTTGTTGTGAGGATCAAATGAGATAATGGATGTGAAAACGCTTTGAAAAAAAAAGTATAAAGTGCTATACAAATGTAAGGTTTTATTATTTTTCTATTATATCTCTAACTATTTATTTTTGACACCAACACTCATGGGGAAGGGAAGGTGACCCTAGCACCCATGGGGTATCTGAGGTTTGGGAGAATCACAGGCCCTCCCCCAGAAGTAAAACAGGAGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATAGTTTTGACAGCTCTCCACCCCGGGCAGCTGTGGGCACAGTTCATACTCACCTTAGCCTGAGTTTTTTTGGGGTTAGGCCAAAGTTCTCAGTGCCCGCCAAGCCCCCCAGCTCCCAGCCCCTTCCTTACTGATTCAGCTATGCGAAGCACGGCATGCACCGTCAGCCCAAAGAGCTCCTCGCCCTTCAGATACTCAGGGAAGAGTCGCAGCATGTCAGCCTCTTTTCTCATGGCAGCCACAGGCTCAATGATGCGATTCCACACGGCTAAGAAGCAGGGAAGAGAGCAGTCCTCAGAGGCAACTTCTGCTCACTGACCTCCAGTCCCTAACCCCAATCCAGAACTGCAGTTTTCTGAGGCCTTCAAGCCTCCCTATCATGAAGTTGTGTTGGTCTTCCAGATCCTCTCTTGGCCTCCTAGTCTCACTCTCTCTTAAGAAGCAGGAGGTTTCCAACCCCAAGGGGTCATCACAGAGCCTTGAGATACAAACCCAGGGCCCAGGAGACCCAGCATAGGCCATGGAAGGTCCCTAGTGAAAGAGCAGGCATGCTTTGGAGTTGGAAAGACTTGGGTTCAGGTTCTAGTACTGGTCATGAGACCTTGAGCCAAATACAGTCACGTGCAGCTTAACAACATTTCATTCAATGAGGAATCATATATACAACAGTGGTCTGGTAAGATTATAATACTGTACTGTATTTTTACTGTATCTTTTCTATGTCTAGATGCACATACTTACCGTATGTTACAACTGCCTACAGTATTCAGTACAGTTACATGCTGTACAGATTTGTAGCCTAGGAGCAATGGGGTATACCGCAGAGCCTAGGTGTGTAGTATGCTATGCCATCTAGGTTTGTGTAGTACACTCTATGAAGTTCACACAATGACAAAATCACCTAACAATGCATTTCTCAGAATGTATCCCTGTCATTTAGCAATGCACGACTGTACTGAAATCTGAGACTCAGTTTCTTTATGAACAAACTGGGCATAATCGTAGTATAATACTTACCTCATAGGGTTGTATGAACAAAATAAACTACACAAATCACTTAGCTTAGTTTGTGGCTCACAGTACACACTCAAAAAAAGGTACCTGCTCTTACTGTTATTTTATCATTAACACTAAAACTAAAATCAAAATAATTCTGATTTCGTCCAGGGAAAAACAACCCCAAGGAACTTGGTTAGGATTAGGTTGGGTGAGGCAGATGATAGTCTCAGAACTGTTTCCTTTTGTTCCACTGGGGATAGCAACAGAACTAGAATATGTGAGATTAGACCAGCAAAATATTTTCAACTACAAGGGAATTTAGGGTGACAAGAGAGGCTCAAACACTTTCACTGGGAGTTTTCAAGAGACCCCCTGCCTGCCTGAGGTGGGGGAAGGAGGATCATTCACATAGAAGCTACAGGTCCTCTTATAGACATTGTAACAGTGACCCTGGGAGAAACTTTTCCCATTCCATATTATCCATTTCAAGGGCCCACTGCTCACCCTGGGGAGAGGCGTCAGTGAAGACCAGGTCCTCCAGGCCCTGCTCGATGACTTTGATTACAAACTCCGGCCGCCCGTTGTTCTCACCAATAGAACAGCGATAGCAGCAGCGACGATTGTTGGTGCGGAGGCTCCAATAGATGCGCGTGGCCTCGTAGCCCACGGGATAGAGGGCAGTGGCACTATGAAAGTCAGCCATCTGGTGAGGCAGCAGCTGTCCGATGGCGTGGAACACAAGGCCCCCCACACGGAACATGTGCAGCCGTTCTCCCCGCTGAATGATGCTAGCGATTTGCTTCACCTCGTCCCGCTCAATGTAGACCCGCCGGAAGACAGCAAAAGAGCTCAGCTCTTGCTCACAGGGCCCCTTGATCTTATGCATTGGACACAGCATGGTCTTGTCCTTGAAGAACATGCACTTGGCACGGATGGCACAAGCAAAATGGTAGACATTGGGGCAACGCATGCGATTGCAGCTGCTGGTGGCACCAGTTCGCTGGCACAGGGAGCACTTGGTTAGCAGTCCTCGGTGCAGGGCAACCTCCACATTCATCAGTGCCCCGCCCTGGGTCTCATACACCTCCGTGGACCAAAGGGCACAGTTGAGGTGCACCCACAGGTCCAGGTCCAGGTTCAGCAGACGGGCAGGCCCATCAGTGGCCCCGTCACCCTCCTCATGACAGAAACAGCAGCGACGCATGTCTCGCGGTACCTTGTCA
|
GGGTGTTGGTCTCGCCTGTGAAGGTGCTCTGATATGCCTTAGACATGCTGGTGCTGTTCAGGGTATGGGGCCTGGGAGGTGATATAATCCATGACAAGACAGCTCTCCCTCAGACCAAGTACATACCACCCACCTCCTCTGCCACCTCCTGGGATGTGCAACACACCAGTTAGGGGCGTGTGCTGCTGGCAAGCACTGGAAGTGCAGCCTTGGGAAAGGAGTAGAGGCAACTGGGTCTCAGCTCTGGTGAGGAAGCAACTAGCTACAGGGACCCTTCTGACACCCTGGGTGGCACAGAGAGCCCAGGGTGAGGGGTGGGGTGTGGAGGGAGATGGGGGGCACCAATTCCCCTACACTGAGCCTGTTCTCCCATCTCCCACTTCCTACCACTCTCCTGCCAAACCATTCTCAAGGCCATGCTCCTCTGGGAAGTTTTCCGCAAGCAGCCCAGGCCTAGAATTTAAGCTGATGGTTTGCTTGAATGTCTGAATCCTACCTCCTGCACATACTGGAAGCCCTGAAAATGGGGACTGTGCCTACCACGCTGGGCTAGATTTGAATTAAAACTGGCTGTGAACTCACAGCCTAAAGGTGGTATCCTTTCTTCGGACTGTCCCCTTCTCTGACATAACATTGGGCTCTGTGCAGATGGCTCAGTGCAGGGGAATGACGGCTGCCTGGCAGGATGCCTTTTACCACCTTAGGGCACCAGCCAAATTCTTGCCATCCCAGAGCAGTGGTTTTCAAACGTTTCTGGTTCTTTTTTTATTTAGCAGAAATCTTTGCTTTTTTCTTTAACAAAATGTTGACTGGAACTCCAATACATAAACTAGATGACAATGGAGCTCTTCTGGTTTAATCCAATTTGGGGAAGGAAGAGATATGCATGGGAAGGAAAAGTTCAACCCATCAGTTTAAGTGATCCAGGACTTTTTGGAACACAGGCACTCACAGTTTGAAAACCACCATTGCAGGGCATCAAGGACAAGGCTGGCTAGGGATGGAGAGTCTCTGACATTCTACAACAGCCTAGGAGCCACCAAAGACCTTCGAGAAAGCCCTGCTACCACAGATTCTGCCTCCCTCTACCCAGGGACTAAGGTCCCTGGTACACAGAAAGAACAAGGACCTGCAGTGAAGAAGTAAGGGTCTGGTCCCAGCTGTGTGACCTTTGCCTAGTCATTTAATCTTTCTGGGTCTCAGTTTTCTCAGCTGTAAAATGGGGGTCATACCACCTGCCCTACCTACCTCATAAGGTTGTTGTGAGGATCAAATGAGATAATGGATGTGAAAACGCTTTGAAAAAAAAAGTATAAAGTGCTATACAAATGTAAGGTTTTATTATTTTTCTATTATATCTCTAACTATTTATTTTTGACACCAACACTCATGGGGAAGGGAAGGTGACCCTAGCACCCATGGGGTATCTGAGGTTTGGGAGAATCACAGGCCCTCCCCCAGAAGTAAAACAGGAGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATAGTTTTGACAGCTCTCCACCCCGGGCAGCTGTGGGCACAGTTCATACTCACCTTAGCCTGAGTTTTTTTGGGGTTAGGCCAAAGTTCTCAGTGCCCGCCAAGCCCCCCAGCTCCCAGCCCCTTCCTTACTGATTCAGCTATGCGAAGCACGGCATGCACCGTCAGCCCAAAGGGCTCCTCGCCCTTCAGATACTCAGGGAAGAGTCGCAGCATGTCAGCCTCTTTTCTCATGGCAGCCACAGGCTCAATGATGCGATTCCACACGGCTAAGAAGCAGGGAAGAGAGCAGTCCTCAGAGGCAACTTCTGCTCACTGACCTCCAGTCCCTAACCCCAATCCAGAACTGCAGTTTTCTGAGGCCTTCAAGCCTCCCTATCATGAAGTTGTGTTGGTCTTCCAGATCCTCTCTTGGCCTCCTAGTCTCACTCTCTCTTAAGAAGCAGGAGGTTTCCAACCCCAAGGGGTCATCACAGAGCCTTGAGATACAAACCCAGGGCCCAGGAGACCCAGCATAGGCCATGGAAGGTCCCTAGTGAAAGAGCAGGCATGCTTTGGAGTTGGAAAGACTTGGGTTCAGGTTCTAGTACTGGTCATGAGACCTTGAGCCAAATACAGTCACGTGCAGCTTAACAACATTTCATTCAATGAGGAATCATATATACAACAGTGGTCTGGTAAGATTATAATACTGTACTGTATTTTTACTGTATCTTTTCTATGTCTAGATGCACATACTTACCGTATGTTACAACTGCCTACAGTATTCAGTACAGTTACATGCTGTACAGATTTGTAGCCTAGGAGCAATGGGGTATACCGCAGAGCCTAGGTGTGTAGTATGCTATGCCATCTAGGTTTGTGTAGTACACTCTATGAAGTTCACACAATGACAAAATCACCTAACAATGCATTTCTCAGAATGTATCCCTGTCATTTAGCAATGCACGACTGTACTGAAATCTGAGACTCAGTTTCTTTATGAACAAACTGGGCATAATCGTAGTATAATACTTACCTCATAGGGTTGTATGAACAAAATAAACTACACAAATCACTTAGCTTAGTTTGTGGCTCACAGTACACACTCAAAAAAAGGTACCTGCTCTTACTGTTATTTTATCATTAACACTAAAACTAAAATCAAAATAATTCTGATTTCGTCCAGGGAAAAACAACCCCAAGGAACTTGGTTAGGATTAGGTTGGGTGAGGCAGATGATAGTCTCAGAACTGTTTCCTTTTGTTCCACTGGGGATAGCAACAGAACTAGAATATGTGAGATTAGACCAGCAAAATATTTTCAACTACAAGGGAATTTAGGGTGACAAGAGAGGCTCAAACACTTTCACTGGGAGTTTTCAAGAGACCCCCTGCCTGCCTGAGGTGGGGGAAGGAGGATCATTCACATAGAAGCTACAGGTCCTCTTATAGACATTGTAACAGTGACCCTGGGAGAAACTTTTCCCATTCCATATTATCCATTTCAAGGGCCCACTGCTCACCCTGGGGAGAGGCGTCAGTGAAGACCAGGTCCTCCAGGCCCTGCTCGATGACTTTGATTACAAACTCCGGCCGCCCGTTGTTCTCACCAATAGAACAGCGATAGCAGCAGCGACGATTGTTGGTGCGGAGGCTCCAATAGATGCGCGTGGCCTCGTAGCCCACGGGATAGAGGGCAGTGGCACTATGAAAGTCAGCCATCTGGTGAGGCAGCAGCTGTCCGATGGCGTGGAACACAAGGCCCCCCACACGGAACATGTGCAGCCGTTCTCCCCGCTGAATGATGCTAGCGATTTGCTTCACCTCGTCCCGCTCAATGTAGACCCGCCGGAAGACAGCAAAAGAGCTCAGCTCTTGCTCACAGGGCCCCTTGATCTTATGCATTGGACACAGCATGGTCTTGTCCTTGAAGAACATGCACTTGGCACGGATGGCACAAGCAAAATGGTAGACATTGGGGCAACGCATGCGATTGCAGCTGCTGGTGGCACCAGTTCGCTGGCACAGGGAGCACTTGGTTAGCAGTCCTCGGTGCAGGGCAACCTCCACATTCATCAGTGCCCCGCCCTGGGTCTCATACACCTCCGTGGACCAAAGGGCACAGTTGAGGTGCACCCACAGGTCCAGGTCCAGGTTCAGCAGACGGGCAGGCCCATCAGTGGCCCCGTCACCCTCCTCATGACAGAAACAGCAGCGACGCATGTCTCGCGGTACCTTGTCA
|
Task1_train_17561
|
This alteration occurs within gene KMT2D (lysine methyltransferase 2D) located on Chromosome 12. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Kabuki syndrome
|
TATCTGAGGTTTGGGAGAATCACAGGCCCTCCCCCAGAAGTAAAACAGGAGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATAGTTTTGACAGCTCTCCACCCCGGGCAGCTGTGGGCACAGTTCATACTCACCTTAGCCTGAGTTTTTTTGGGGTTAGGCCAAAGTTCTCAGTGCCCGCCAAGCCCCCCAGCTCCCAGCCCCTTCCTTACTGATTCAGCTATGCGAAGCACGGCATGCACCGTCAGCCCAAAGAGCTCCTCGCCCTTCAGATACTCAGGGAAGAGTCGCAGCATGTCAGCCTCTTTTCTCATGGCAGCCACAGGCTCAATGATGCGATTCCACACGGCTAAGAAGCAGGGAAGAGAGCAGTCCTCAGAGGCAACTTCTGCTCACTGACCTCCAGTCCCTAACCCCAATCCAGAACTGCAGTTTTCTGAGGCCTTCAAGCCTCCCTATCATGAAGTTGTGTTGGTCTTCCAGATCCTCTCTTGGCCTCCTAGTCTCACTCTCTCTTAAGAAGCAGGAGGTTTCCAACCCCAAGGGGTCATCACAGAGCCTTGAGATACAAACCCAGGGCCCAGGAGACCCAGCATAGGCCATGGAAGGTCCCTAGTGAAAGAGCAGGCATGCTTTGGAGTTGGAAAGACTTGGGTTCAGGTTCTAGTACTGGTCATGAGACCTTGAGCCAAATACAGTCACGTGCAGCTTAACAACATTTCATTCAATGAGGAATCATATATACAACAGTGGTCTGGTAAGATTATAATACTGTACTGTATTTTTACTGTATCTTTTCTATGTCTAGATGCACATACTTACCGTATGTTACAACTGCCTACAGTATTCAGTACAGTTACATGCTGTACAGATTTGTAGCCTAGGAGCAATGGGGTATACCGCAGAGCCTAGGTGTGTAGTATGCTATGCCATCTAGGTTTGTGTAGTACACTCTATGAAGTTCACACAATGACAAAATCACCTAACAATGCATTTCTCAGAATGTATCCCTGTCATTTAGCAATGCACGACTGTACTGAAATCTGAGACTCAGTTTCTTTATGAACAAACTGGGCATAATCGTAGTATAATACTTACCTCATAGGGTTGTATGAACAAAATAAACTACACAAATCACTTAGCTTAGTTTGTGGCTCACAGTACACACTCAAAAAAAGGTACCTGCTCTTACTGTTATTTTATCATTAACACTAAAACTAAAATCAAAATAATTCTGATTTCGTCCAGGGAAAAACAACCCCAAGGAACTTGGTTAGGATTAGGTTGGGTGAGGCAGATGATAGTCTCAGAACTGTTTCCTTTTGTTCCACTGGGGATAGCAACAGAACTAGAATATGTGAGATTAGACCAGCAAAATATTTTCAACTACAAGGGAATTTAGGGTGACAAGAGAGGCTCAAACACTTTCACTGGGAGTTTTCAAGAGACCCCCTGCCTGCCTGAGGTGGGGGAAGGAGGATCATTCACATAGAAGCTACAGGTCCTCTTATAGACATTGTAACAGTGACCCTGGGAGAAACTTTTCCCATTCCATATTATCCATTTCAAGGGCCCACTGCTCACCCTGGGGAGAGGCGTCAGTGAAGACCAGGTCCTCCAGGCCCTGCTCGATGACTTTGATTACAAACTCCGGCCGCCCGTTGTTCTCACCAATAGAACAGCGATAGCAGCAGCGACGATTGTTGGTGCGGAGGCTCCAATAGATGCGCGTGGCCTCGTAGCCCACGGGATAGAGGGCAGTGGCACTATGAAAGTCAGCCATCTGGTGAGGCAGCAGCTGTCCGATGGCGTGGAACACAAGGCCCCCCACACGGAACATGTGCAGCCGTTCTCCCCGCTGAATGATGCTAGCGATTTGCTTCACCTCGTCCCGCTCAATGTAGACCCGCCGGAAGACAGCAAAAGAGCTCAGCTCTTGCTCACAGGGCCCCTTGATCTTATGCATTGGACACAGCATGGTCTTGTCCTTGAAGAACATGCACTTGGCACGGATGGCACAAGCAAAATGGTAGACATTGGGGCAACGCATGCGATTGCAGCTGCTGGTGGCACCAGTTCGCTGGCACAGGGAGCACTTGGTTAGCAGTCCTCGGTGCAGGGCAACCTCCACATTCATCAGTGCCCCGCCCTGGGTCTCATACACCTCCGTGGACCAAAGGGCACAGTTGAGGTGCACCCACAGGTCCAGGTCCAGGTTCAGCAGACGGGCAGGCCCATCAGTGGCCCCGTCACCCTCCTCATGACAGAAACAGCAGCGACGCATGTCTCGCGGTACCTTGTCAGGTCGCAAGGCTGTGCCAAGCTGCTCCATAAACTCTGCCACTTCCCGCTCATCCTCCTGCCGCCCACTGCCCTTCTGGATGGTCAGCAGCAGCCGAAGCCGCTTCCAGCGCACTCCTTTCCATTTCTTGAGGCGAGGAGGACGGGAATCTTCACCTTCTTCAGGGGGCCGGGCACGGGGCTTGGGTCGGGCTGATTCAGGGGATGAGGCCAGTGGCAGAGGTGAGGGGACGGGTGGCTCAGCCAAGGGTTCGGTGGGAAGTTCAACCAAGGGCTCAGTAGGGGGACTGGCAGGAGAAGGTGCCAAGGGGGAAGGGGGCGGGGAGGGTTCTTCAGGAGGTGGGGCCGAGAGCTGTCGCACATCCAGATTGGAGACATTGTAGGTATAGCTGTGCTGAGTGGGTGGCTCTGGGGCGGGGCTCTCCTGTAGGAGGGTGCCCTGTATCATTAGTGCCAGCTCCTCATCTAACTAGCTCCCTCCTTCCCCTCACCCATATGCCACCCTCCCAAAAGGCCTCCACATTCTTTGCCCTAGACAGCCTCTTTTTTCTTTTCTTTTCTTTTTTTTTTGAGACACAGTCTTGCTCTGTTGCCCAGGCTGGATCCAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGGGATTCTCATGCCTCAGCCTTTCGAGTAGCTGGGATTACAGGCACGCACCATCACGCCTGGCTACTGTTTTGTTTTTGTTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTAAAGTGATTCACTCGCCTTGCCTCCCAAAGCACTGGGATTACAGATGTGAGCCACCGCGCCTGGCCGGCAGCCCCTTTTTTCTAACACCCACCCCTTTTTCTCCCCCAGACCTACCTGTTTCAGGAGGCTCAAGATGTCTAGTTGGCTCTTCAGGGTATAGCCAGGCAACACTGCATCAAACTGCTTCAGCCAATCAGGGCCAGTGTCTGGGCTCTTGCCTTCCAGACCCTTTTCCTTCCCACCTGCAGAAAGGAGTGGATCAGAGCCTCCCACCAGAATCACTCCCCTCAAGTCCCAAAGGGCTTCCCTGCCACACTCACCAGGACCCTCAGCTTCCCCCTTCTTTGGCTCAGTGCCTGCCCGGGCGGGGCTCTCTGGGAACAGCACCTCATAGGAGTTGGGGATCTTCATGCTCAGCAGCTCCGCCACTGCCACCATCACGCCATTCAGGTTCTGCCAGGGCCAGGGAAGGGATGGAAGAAACATATCAGCCAAGTGTCTGAGGTGAGCTCTACTACCAGCTGGGTGGGGACAAGGACACCTAGAACCCACTCCCCAGGGTAGTTCTATCCTATGTCACCCAGCTCTTTTCATACACTTCCCTCACAGCAGCCTTTCCCAAACTGCTGTGGGCAC
|
TATCTGAGGTTTGGGAGAATCACAGGCCCTCCCCCAGAAGTAAAACAGGAGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATAGTTTTGACAGCTCTCCACCCCGGGCAGCTGTGGGCACAGTTCATACTCACCTTAGCCTGAGTTTTTTTGGGGTTAGGCCAAAGTTCTCAGTGCCCGCCAAGCCCCCCAGCTCCCAGCCCCTTCCTTACTGATTCAGCTATGCGAAGCACGGCATGCACCGTCAGCCCAAAGAGCTCCTCGCCCTTCAGATACTCAGGGAAGAGTCGCAGCATGTCAGCCTCTTTTCTCATGGCAGCCACAGGCTCAATGATGCGATTCCACACGGCTAAGAAGCAGGGAAGAGAGCAGTCCTCAGAGGCAACTTCTGCTCACTGACCTCCAGTCCCTAACCCCAATCCAGAACTGCAGTTTTCTGAGGCCTTCAAGCCTCCCTATCATGAAGTTGTGTTGGTCTTCCAGATCCTCTCTTGGCCTCCTAGTCTCACTCTCTCTTAAGAAGCAGGAGGTTTCCAACCCCAAGGGGTCATCACAGAGCCTTGAGATACAAACCCAGGGCCCAGGAGACCCAGCATAGGCCATGGAAGGTCCCTAGTGAAAGAGCAGGCATGCTTTGGAGTTGGAAAGACTTGGGTTCAGGTTCTAGTACTGGTCATGAGACCTTGAGCCAAATACAGTCACGTGCAGCTTAACAACATTTCATTCAATGAGGAATCATATATACAACAGTGGTCTGGTAAGATTATAATACTGTACTGTATTTTTACTGTATCTTTTCTATGTCTAGATGCACATACTTACCGTATGTTACAACTGCCTACAGTATTCAGTACAGTTACATGCTGTACAGATTTGTAGCCTAGGAGCAATGGGGTATACCGCAGAGCCTAGGTGTGTAGTATGCTATGCCATCTAGGTTTGTGTAGTACACTCTATGAAGTTCACACAATGACAAAATCACCTAACAATGCATTTCTCAGAATGTATCCCTGTCATTTAGCAATGCACGACTGTACTGAAATCTGAGACTCAGTTTCTTTATGAACAAACTGGGCATAATCGTAGTATAATACTTACCTCATAGGGTTGTATGAACAAAATAAACTACACAAATCACTTAGCTTAGTTTGTGGCTCACAGTACACACTCAAAAAAAGGTACCTGCTCTTACTGTTATTTTATCATTAACACTAAAACTAAAATCAAAATAATTCTGATTTCGTCCAGGGAAAAACAACCCCAAGGAACTTGGTTAGGATTAGGTTGGGTGAGGCAGATGATAGTCTCAGAACTGTTTCCTTTTGTTCCACTGGGGATAGCAACAGAACTAGAATATGTGAGATTAGACCAGCAAAATATTTTCAACTACAAGGGAATTTAGGGTGACAAGAGAGGCTCAAACACTTTCACTGGGAGTTTTCAAGAGACCCCCTGCCTGCCTGAGGTGGGGGAAGGAGGATCATTCACATAGAAGCTACAGGTCCTCTTATAGACATTGTAACAGTGACCCTGGGAGAAACTTTTCCCATTCCATATTATCCATTTCAAGGGCCCACTGCTCACCCTGGGGAGAGGCGTCAGTGAAGACCAGGTCCTCCAGGCCCTGCTCGATGACTTTGATTACAAACTCCGGCCGCCCGTTGTTCTCACCAATAGAATAGCGATAGCAGCAGCGACGATTGTTGGTGCGGAGGCTCCAATAGATGCGCGTGGCCTCGTAGCCCACGGGATAGAGGGCAGTGGCACTATGAAAGTCAGCCATCTGGTGAGGCAGCAGCTGTCCGATGGCGTGGAACACAAGGCCCCCCACACGGAACATGTGCAGCCGTTCTCCCCGCTGAATGATGCTAGCGATTTGCTTCACCTCGTCCCGCTCAATGTAGACCCGCCGGAAGACAGCAAAAGAGCTCAGCTCTTGCTCACAGGGCCCCTTGATCTTATGCATTGGACACAGCATGGTCTTGTCCTTGAAGAACATGCACTTGGCACGGATGGCACAAGCAAAATGGTAGACATTGGGGCAACGCATGCGATTGCAGCTGCTGGTGGCACCAGTTCGCTGGCACAGGGAGCACTTGGTTAGCAGTCCTCGGTGCAGGGCAACCTCCACATTCATCAGTGCCCCGCCCTGGGTCTCATACACCTCCGTGGACCAAAGGGCACAGTTGAGGTGCACCCACAGGTCCAGGTCCAGGTTCAGCAGACGGGCAGGCCCATCAGTGGCCCCGTCACCCTCCTCATGACAGAAACAGCAGCGACGCATGTCTCGCGGTACCTTGTCAGGTCGCAAGGCTGTGCCAAGCTGCTCCATAAACTCTGCCACTTCCCGCTCATCCTCCTGCCGCCCACTGCCCTTCTGGATGGTCAGCAGCAGCCGAAGCCGCTTCCAGCGCACTCCTTTCCATTTCTTGAGGCGAGGAGGACGGGAATCTTCACCTTCTTCAGGGGGCCGGGCACGGGGCTTGGGTCGGGCTGATTCAGGGGATGAGGCCAGTGGCAGAGGTGAGGGGACGGGTGGCTCAGCCAAGGGTTCGGTGGGAAGTTCAACCAAGGGCTCAGTAGGGGGACTGGCAGGAGAAGGTGCCAAGGGGGAAGGGGGCGGGGAGGGTTCTTCAGGAGGTGGGGCCGAGAGCTGTCGCACATCCAGATTGGAGACATTGTAGGTATAGCTGTGCTGAGTGGGTGGCTCTGGGGCGGGGCTCTCCTGTAGGAGGGTGCCCTGTATCATTAGTGCCAGCTCCTCATCTAACTAGCTCCCTCCTTCCCCTCACCCATATGCCACCCTCCCAAAAGGCCTCCACATTCTTTGCCCTAGACAGCCTCTTTTTTCTTTTCTTTTCTTTTTTTTTTGAGACACAGTCTTGCTCTGTTGCCCAGGCTGGATCCAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGGGATTCTCATGCCTCAGCCTTTCGAGTAGCTGGGATTACAGGCACGCACCATCACGCCTGGCTACTGTTTTGTTTTTGTTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTAAAGTGATTCACTCGCCTTGCCTCCCAAAGCACTGGGATTACAGATGTGAGCCACCGCGCCTGGCCGGCAGCCCCTTTTTTCTAACACCCACCCCTTTTTCTCCCCCAGACCTACCTGTTTCAGGAGGCTCAAGATGTCTAGTTGGCTCTTCAGGGTATAGCCAGGCAACACTGCATCAAACTGCTTCAGCCAATCAGGGCCAGTGTCTGGGCTCTTGCCTTCCAGACCCTTTTCCTTCCCACCTGCAGAAAGGAGTGGATCAGAGCCTCCCACCAGAATCACTCCCCTCAAGTCCCAAAGGGCTTCCCTGCCACACTCACCAGGACCCTCAGCTTCCCCCTTCTTTGGCTCAGTGCCTGCCCGGGCGGGGCTCTCTGGGAACAGCACCTCATAGGAGTTGGGGATCTTCATGCTCAGCAGCTCCGCCACTGCCACCATCACGCCATTCAGGTTCTGCCAGGGCCAGGGAAGGGATGGAAGAAACATATCAGCCAAGTGTCTGAGGTGAGCTCTACTACCAGCTGGGTGGGGACAAGGACACCTAGAACCCACTCCCCAGGGTAGTTCTATCCTATGTCACCCAGCTCTTTTCATACACTTCCCTCACAGCAGCCTTTCCCAAACTGCTGTGGGCAC
|
Task1_train_17562
|
Here’s a variant in KMT2D (lysine methyltransferase 2D) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; Kabuki syndrome
|
GAATCACAGGCCCTCCCCCAGAAGTAAAACAGGAGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATAGTTTTGACAGCTCTCCACCCCGGGCAGCTGTGGGCACAGTTCATACTCACCTTAGCCTGAGTTTTTTTGGGGTTAGGCCAAAGTTCTCAGTGCCCGCCAAGCCCCCCAGCTCCCAGCCCCTTCCTTACTGATTCAGCTATGCGAAGCACGGCATGCACCGTCAGCCCAAAGAGCTCCTCGCCCTTCAGATACTCAGGGAAGAGTCGCAGCATGTCAGCCTCTTTTCTCATGGCAGCCACAGGCTCAATGATGCGATTCCACACGGCTAAGAAGCAGGGAAGAGAGCAGTCCTCAGAGGCAACTTCTGCTCACTGACCTCCAGTCCCTAACCCCAATCCAGAACTGCAGTTTTCTGAGGCCTTCAAGCCTCCCTATCATGAAGTTGTGTTGGTCTTCCAGATCCTCTCTTGGCCTCCTAGTCTCACTCTCTCTTAAGAAGCAGGAGGTTTCCAACCCCAAGGGGTCATCACAGAGCCTTGAGATACAAACCCAGGGCCCAGGAGACCCAGCATAGGCCATGGAAGGTCCCTAGTGAAAGAGCAGGCATGCTTTGGAGTTGGAAAGACTTGGGTTCAGGTTCTAGTACTGGTCATGAGACCTTGAGCCAAATACAGTCACGTGCAGCTTAACAACATTTCATTCAATGAGGAATCATATATACAACAGTGGTCTGGTAAGATTATAATACTGTACTGTATTTTTACTGTATCTTTTCTATGTCTAGATGCACATACTTACCGTATGTTACAACTGCCTACAGTATTCAGTACAGTTACATGCTGTACAGATTTGTAGCCTAGGAGCAATGGGGTATACCGCAGAGCCTAGGTGTGTAGTATGCTATGCCATCTAGGTTTGTGTAGTACACTCTATGAAGTTCACACAATGACAAAATCACCTAACAATGCATTTCTCAGAATGTATCCCTGTCATTTAGCAATGCACGACTGTACTGAAATCTGAGACTCAGTTTCTTTATGAACAAACTGGGCATAATCGTAGTATAATACTTACCTCATAGGGTTGTATGAACAAAATAAACTACACAAATCACTTAGCTTAGTTTGTGGCTCACAGTACACACTCAAAAAAAGGTACCTGCTCTTACTGTTATTTTATCATTAACACTAAAACTAAAATCAAAATAATTCTGATTTCGTCCAGGGAAAAACAACCCCAAGGAACTTGGTTAGGATTAGGTTGGGTGAGGCAGATGATAGTCTCAGAACTGTTTCCTTTTGTTCCACTGGGGATAGCAACAGAACTAGAATATGTGAGATTAGACCAGCAAAATATTTTCAACTACAAGGGAATTTAGGGTGACAAGAGAGGCTCAAACACTTTCACTGGGAGTTTTCAAGAGACCCCCTGCCTGCCTGAGGTGGGGGAAGGAGGATCATTCACATAGAAGCTACAGGTCCTCTTATAGACATTGTAACAGTGACCCTGGGAGAAACTTTTCCCATTCCATATTATCCATTTCAAGGGCCCACTGCTCACCCTGGGGAGAGGCGTCAGTGAAGACCAGGTCCTCCAGGCCCTGCTCGATGACTTTGATTACAAACTCCGGCCGCCCGTTGTTCTCACCAATAGAACAGCGATAGCAGCAGCGACGATTGTTGGTGCGGAGGCTCCAATAGATGCGCGTGGCCTCGTAGCCCACGGGATAGAGGGCAGTGGCACTATGAAAGTCAGCCATCTGGTGAGGCAGCAGCTGTCCGATGGCGTGGAACACAAGGCCCCCCACACGGAACATGTGCAGCCGTTCTCCCCGCTGAATGATGCTAGCGATTTGCTTCACCTCGTCCCGCTCAATGTAGACCCGCCGGAAGACAGCAAAAGAGCTCAGCTCTTGCTCACAGGGCCCCTTGATCTTATGCATTGGACACAGCATGGTCTTGTCCTTGAAGAACATGCACTTGGCACGGATGGCACAAGCAAAATGGTAGACATTGGGGCAACGCATGCGATTGCAGCTGCTGGTGGCACCAGTTCGCTGGCACAGGGAGCACTTGGTTAGCAGTCCTCGGTGCAGGGCAACCTCCACATTCATCAGTGCCCCGCCCTGGGTCTCATACACCTCCGTGGACCAAAGGGCACAGTTGAGGTGCACCCACAGGTCCAGGTCCAGGTTCAGCAGACGGGCAGGCCCATCAGTGGCCCCGTCACCCTCCTCATGACAGAAACAGCAGCGACGCATGTCTCGCGGTACCTTGTCAGGTCGCAAGGCTGTGCCAAGCTGCTCCATAAACTCTGCCACTTCCCGCTCATCCTCCTGCCGCCCACTGCCCTTCTGGATGGTCAGCAGCAGCCGAAGCCGCTTCCAGCGCACTCCTTTCCATTTCTTGAGGCGAGGAGGACGGGAATCTTCACCTTCTTCAGGGGGCCGGGCACGGGGCTTGGGTCGGGCTGATTCAGGGGATGAGGCCAGTGGCAGAGGTGAGGGGACGGGTGGCTCAGCCAAGGGTTCGGTGGGAAGTTCAACCAAGGGCTCAGTAGGGGGACTGGCAGGAGAAGGTGCCAAGGGGGAAGGGGGCGGGGAGGGTTCTTCAGGAGGTGGGGCCGAGAGCTGTCGCACATCCAGATTGGAGACATTGTAGGTATAGCTGTGCTGAGTGGGTGGCTCTGGGGCGGGGCTCTCCTGTAGGAGGGTGCCCTGTATCATTAGTGCCAGCTCCTCATCTAACTAGCTCCCTCCTTCCCCTCACCCATATGCCACCCTCCCAAAAGGCCTCCACATTCTTTGCCCTAGACAGCCTCTTTTTTCTTTTCTTTTCTTTTTTTTTTGAGACACAGTCTTGCTCTGTTGCCCAGGCTGGATCCAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGGGATTCTCATGCCTCAGCCTTTCGAGTAGCTGGGATTACAGGCACGCACCATCACGCCTGGCTACTGTTTTGTTTTTGTTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTAAAGTGATTCACTCGCCTTGCCTCCCAAAGCACTGGGATTACAGATGTGAGCCACCGCGCCTGGCCGGCAGCCCCTTTTTTCTAACACCCACCCCTTTTTCTCCCCCAGACCTACCTGTTTCAGGAGGCTCAAGATGTCTAGTTGGCTCTTCAGGGTATAGCCAGGCAACACTGCATCAAACTGCTTCAGCCAATCAGGGCCAGTGTCTGGGCTCTTGCCTTCCAGACCCTTTTCCTTCCCACCTGCAGAAAGGAGTGGATCAGAGCCTCCCACCAGAATCACTCCCCTCAAGTCCCAAAGGGCTTCCCTGCCACACTCACCAGGACCCTCAGCTTCCCCCTTCTTTGGCTCAGTGCCTGCCCGGGCGGGGCTCTCTGGGAACAGCACCTCATAGGAGTTGGGGATCTTCATGCTCAGCAGCTCCGCCACTGCCACCATCACGCCATTCAGGTTCTGCCAGGGCCAGGGAAGGGATGGAAGAAACATATCAGCCAAGTGTCTGAGGTGAGCTCTACTACCAGCTGGGTGGGGACAAGGACACCTAGAACCCACTCCCCAGGGTAGTTCTATCCTATGTCACCCAGCTCTTTTCATACACTTCCCTCACAGCAGCCTTTCCCAAACTGCTGTGGGCACTGACGGGAGCTCCACG
|
GAATCACAGGCCCTCCCCCAGAAGTAAAACAGGAGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATAGTTTTGACAGCTCTCCACCCCGGGCAGCTGTGGGCACAGTTCATACTCACCTTAGCCTGAGTTTTTTTGGGGTTAGGCCAAAGTTCTCAGTGCCCGCCAAGCCCCCCAGCTCCCAGCCCCTTCCTTACTGATTCAGCTATGCGAAGCACGGCATGCACCGTCAGCCCAAAGAGCTCCTCGCCCTTCAGATACTCAGGGAAGAGTCGCAGCATGTCAGCCTCTTTTCTCATGGCAGCCACAGGCTCAATGATGCGATTCCACACGGCTAAGAAGCAGGGAAGAGAGCAGTCCTCAGAGGCAACTTCTGCTCACTGACCTCCAGTCCCTAACCCCAATCCAGAACTGCAGTTTTCTGAGGCCTTCAAGCCTCCCTATCATGAAGTTGTGTTGGTCTTCCAGATCCTCTCTTGGCCTCCTAGTCTCACTCTCTCTTAAGAAGCAGGAGGTTTCCAACCCCAAGGGGTCATCACAGAGCCTTGAGATACAAACCCAGGGCCCAGGAGACCCAGCATAGGCCATGGAAGGTCCCTAGTGAAAGAGCAGGCATGCTTTGGAGTTGGAAAGACTTGGGTTCAGGTTCTAGTACTGGTCATGAGACCTTGAGCCAAATACAGTCACGTGCAGCTTAACAACATTTCATTCAATGAGGAATCATATATACAACAGTGGTCTGGTAAGATTATAATACTGTACTGTATTTTTACTGTATCTTTTCTATGTCTAGATGCACATACTTACCGTATGTTACAACTGCCTACAGTATTCAGTACAGTTACATGCTGTACAGATTTGTAGCCTAGGAGCAATGGGGTATACCGCAGAGCCTAGGTGTGTAGTATGCTATGCCATCTAGGTTTGTGTAGTACACTCTATGAAGTTCACACAATGACAAAATCACCTAACAATGCATTTCTCAGAATGTATCCCTGTCATTTAGCAATGCACGACTGTACTGAAATCTGAGACTCAGTTTCTTTATGAACAAACTGGGCATAATCGTAGTATAATACTTACCTCATAGGGTTGTATGAACAAAATAAACTACACAAATCACTTAGCTTAGTTTGTGGCTCACAGTACACACTCAAAAAAAGGTACCTGCTCTTACTGTTATTTTATCATTAACACTAAAACTAAAATCAAAATAATTCTGATTTCGTCCAGGGAAAAACAACCCCAAGGAACTTGGTTAGGATTAGGTTGGGTGAGGCAGATGATAGTCTCAGAACTGTTTCCTTTTGTTCCACTGGGGATAGCAACAGAACTAGAATATGTGAGATTAGACCAGCAAAATATTTTCAACTACAAGGGAATTTAGGGTGACAAGAGAGGCTCAAACACTTTCACTGGGAGTTTTCAAGAGACCCCCTGCCTGCCTGAGGTGGGGGAAGGAGGATCATTCACATAGAAGCTACAGGTCCTCTTATAGACATTGTAACAGTGACCCTGGGAGAAACTTTTCCCATTCCATATTATCCATTTCAAGGGCCCACTGCTCACCCTGGGGAGAGGCGTCAGTGAAGACCAGGTCCTCCAGGCCCTGCTCGATGACTTTGATTACAAACTCCGGCCGCCCGTTGTTCTCACCAATAGAACAGCGATAGCAGCAGCAACGATTGTTGGTGCGGAGGCTCCAATAGATGCGCGTGGCCTCGTAGCCCACGGGATAGAGGGCAGTGGCACTATGAAAGTCAGCCATCTGGTGAGGCAGCAGCTGTCCGATGGCGTGGAACACAAGGCCCCCCACACGGAACATGTGCAGCCGTTCTCCCCGCTGAATGATGCTAGCGATTTGCTTCACCTCGTCCCGCTCAATGTAGACCCGCCGGAAGACAGCAAAAGAGCTCAGCTCTTGCTCACAGGGCCCCTTGATCTTATGCATTGGACACAGCATGGTCTTGTCCTTGAAGAACATGCACTTGGCACGGATGGCACAAGCAAAATGGTAGACATTGGGGCAACGCATGCGATTGCAGCTGCTGGTGGCACCAGTTCGCTGGCACAGGGAGCACTTGGTTAGCAGTCCTCGGTGCAGGGCAACCTCCACATTCATCAGTGCCCCGCCCTGGGTCTCATACACCTCCGTGGACCAAAGGGCACAGTTGAGGTGCACCCACAGGTCCAGGTCCAGGTTCAGCAGACGGGCAGGCCCATCAGTGGCCCCGTCACCCTCCTCATGACAGAAACAGCAGCGACGCATGTCTCGCGGTACCTTGTCAGGTCGCAAGGCTGTGCCAAGCTGCTCCATAAACTCTGCCACTTCCCGCTCATCCTCCTGCCGCCCACTGCCCTTCTGGATGGTCAGCAGCAGCCGAAGCCGCTTCCAGCGCACTCCTTTCCATTTCTTGAGGCGAGGAGGACGGGAATCTTCACCTTCTTCAGGGGGCCGGGCACGGGGCTTGGGTCGGGCTGATTCAGGGGATGAGGCCAGTGGCAGAGGTGAGGGGACGGGTGGCTCAGCCAAGGGTTCGGTGGGAAGTTCAACCAAGGGCTCAGTAGGGGGACTGGCAGGAGAAGGTGCCAAGGGGGAAGGGGGCGGGGAGGGTTCTTCAGGAGGTGGGGCCGAGAGCTGTCGCACATCCAGATTGGAGACATTGTAGGTATAGCTGTGCTGAGTGGGTGGCTCTGGGGCGGGGCTCTCCTGTAGGAGGGTGCCCTGTATCATTAGTGCCAGCTCCTCATCTAACTAGCTCCCTCCTTCCCCTCACCCATATGCCACCCTCCCAAAAGGCCTCCACATTCTTTGCCCTAGACAGCCTCTTTTTTCTTTTCTTTTCTTTTTTTTTTGAGACACAGTCTTGCTCTGTTGCCCAGGCTGGATCCAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGGGATTCTCATGCCTCAGCCTTTCGAGTAGCTGGGATTACAGGCACGCACCATCACGCCTGGCTACTGTTTTGTTTTTGTTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTAAAGTGATTCACTCGCCTTGCCTCCCAAAGCACTGGGATTACAGATGTGAGCCACCGCGCCTGGCCGGCAGCCCCTTTTTTCTAACACCCACCCCTTTTTCTCCCCCAGACCTACCTGTTTCAGGAGGCTCAAGATGTCTAGTTGGCTCTTCAGGGTATAGCCAGGCAACACTGCATCAAACTGCTTCAGCCAATCAGGGCCAGTGTCTGGGCTCTTGCCTTCCAGACCCTTTTCCTTCCCACCTGCAGAAAGGAGTGGATCAGAGCCTCCCACCAGAATCACTCCCCTCAAGTCCCAAAGGGCTTCCCTGCCACACTCACCAGGACCCTCAGCTTCCCCCTTCTTTGGCTCAGTGCCTGCCCGGGCGGGGCTCTCTGGGAACAGCACCTCATAGGAGTTGGGGATCTTCATGCTCAGCAGCTCCGCCACTGCCACCATCACGCCATTCAGGTTCTGCCAGGGCCAGGGAAGGGATGGAAGAAACATATCAGCCAAGTGTCTGAGGTGAGCTCTACTACCAGCTGGGTGGGGACAAGGACACCTAGAACCCACTCCCCAGGGTAGTTCTATCCTATGTCACCCAGCTCTTTTCATACACTTCCCTCACAGCAGCCTTTCCCAAACTGCTGTGGGCACTGACGGGAGCTCCACG
|
Task1_train_17563
|
With a mutation on Chromosome 12 in gene KMT2D (lysine methyltransferase 2D), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
|
Pathogenic; Kabuki syndrome 1
|
GAATCACAGGCCCTCCCCCAGAAGTAAAACAGGAGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATAGTTTTGACAGCTCTCCACCCCGGGCAGCTGTGGGCACAGTTCATACTCACCTTAGCCTGAGTTTTTTTGGGGTTAGGCCAAAGTTCTCAGTGCCCGCCAAGCCCCCCAGCTCCCAGCCCCTTCCTTACTGATTCAGCTATGCGAAGCACGGCATGCACCGTCAGCCCAAAGAGCTCCTCGCCCTTCAGATACTCAGGGAAGAGTCGCAGCATGTCAGCCTCTTTTCTCATGGCAGCCACAGGCTCAATGATGCGATTCCACACGGCTAAGAAGCAGGGAAGAGAGCAGTCCTCAGAGGCAACTTCTGCTCACTGACCTCCAGTCCCTAACCCCAATCCAGAACTGCAGTTTTCTGAGGCCTTCAAGCCTCCCTATCATGAAGTTGTGTTGGTCTTCCAGATCCTCTCTTGGCCTCCTAGTCTCACTCTCTCTTAAGAAGCAGGAGGTTTCCAACCCCAAGGGGTCATCACAGAGCCTTGAGATACAAACCCAGGGCCCAGGAGACCCAGCATAGGCCATGGAAGGTCCCTAGTGAAAGAGCAGGCATGCTTTGGAGTTGGAAAGACTTGGGTTCAGGTTCTAGTACTGGTCATGAGACCTTGAGCCAAATACAGTCACGTGCAGCTTAACAACATTTCATTCAATGAGGAATCATATATACAACAGTGGTCTGGTAAGATTATAATACTGTACTGTATTTTTACTGTATCTTTTCTATGTCTAGATGCACATACTTACCGTATGTTACAACTGCCTACAGTATTCAGTACAGTTACATGCTGTACAGATTTGTAGCCTAGGAGCAATGGGGTATACCGCAGAGCCTAGGTGTGTAGTATGCTATGCCATCTAGGTTTGTGTAGTACACTCTATGAAGTTCACACAATGACAAAATCACCTAACAATGCATTTCTCAGAATGTATCCCTGTCATTTAGCAATGCACGACTGTACTGAAATCTGAGACTCAGTTTCTTTATGAACAAACTGGGCATAATCGTAGTATAATACTTACCTCATAGGGTTGTATGAACAAAATAAACTACACAAATCACTTAGCTTAGTTTGTGGCTCACAGTACACACTCAAAAAAAGGTACCTGCTCTTACTGTTATTTTATCATTAACACTAAAACTAAAATCAAAATAATTCTGATTTCGTCCAGGGAAAAACAACCCCAAGGAACTTGGTTAGGATTAGGTTGGGTGAGGCAGATGATAGTCTCAGAACTGTTTCCTTTTGTTCCACTGGGGATAGCAACAGAACTAGAATATGTGAGATTAGACCAGCAAAATATTTTCAACTACAAGGGAATTTAGGGTGACAAGAGAGGCTCAAACACTTTCACTGGGAGTTTTCAAGAGACCCCCTGCCTGCCTGAGGTGGGGGAAGGAGGATCATTCACATAGAAGCTACAGGTCCTCTTATAGACATTGTAACAGTGACCCTGGGAGAAACTTTTCCCATTCCATATTATCCATTTCAAGGGCCCACTGCTCACCCTGGGGAGAGGCGTCAGTGAAGACCAGGTCCTCCAGGCCCTGCTCGATGACTTTGATTACAAACTCCGGCCGCCCGTTGTTCTCACCAATAGAACAGCGATAGCAGCAGCGACGATTGTTGGTGCGGAGGCTCCAATAGATGCGCGTGGCCTCGTAGCCCACGGGATAGAGGGCAGTGGCACTATGAAAGTCAGCCATCTGGTGAGGCAGCAGCTGTCCGATGGCGTGGAACACAAGGCCCCCCACACGGAACATGTGCAGCCGTTCTCCCCGCTGAATGATGCTAGCGATTTGCTTCACCTCGTCCCGCTCAATGTAGACCCGCCGGAAGACAGCAAAAGAGCTCAGCTCTTGCTCACAGGGCCCCTTGATCTTATGCATTGGACACAGCATGGTCTTGTCCTTGAAGAACATGCACTTGGCACGGATGGCACAAGCAAAATGGTAGACATTGGGGCAACGCATGCGATTGCAGCTGCTGGTGGCACCAGTTCGCTGGCACAGGGAGCACTTGGTTAGCAGTCCTCGGTGCAGGGCAACCTCCACATTCATCAGTGCCCCGCCCTGGGTCTCATACACCTCCGTGGACCAAAGGGCACAGTTGAGGTGCACCCACAGGTCCAGGTCCAGGTTCAGCAGACGGGCAGGCCCATCAGTGGCCCCGTCACCCTCCTCATGACAGAAACAGCAGCGACGCATGTCTCGCGGTACCTTGTCAGGTCGCAAGGCTGTGCCAAGCTGCTCCATAAACTCTGCCACTTCCCGCTCATCCTCCTGCCGCCCACTGCCCTTCTGGATGGTCAGCAGCAGCCGAAGCCGCTTCCAGCGCACTCCTTTCCATTTCTTGAGGCGAGGAGGACGGGAATCTTCACCTTCTTCAGGGGGCCGGGCACGGGGCTTGGGTCGGGCTGATTCAGGGGATGAGGCCAGTGGCAGAGGTGAGGGGACGGGTGGCTCAGCCAAGGGTTCGGTGGGAAGTTCAACCAAGGGCTCAGTAGGGGGACTGGCAGGAGAAGGTGCCAAGGGGGAAGGGGGCGGGGAGGGTTCTTCAGGAGGTGGGGCCGAGAGCTGTCGCACATCCAGATTGGAGACATTGTAGGTATAGCTGTGCTGAGTGGGTGGCTCTGGGGCGGGGCTCTCCTGTAGGAGGGTGCCCTGTATCATTAGTGCCAGCTCCTCATCTAACTAGCTCCCTCCTTCCCCTCACCCATATGCCACCCTCCCAAAAGGCCTCCACATTCTTTGCCCTAGACAGCCTCTTTTTTCTTTTCTTTTCTTTTTTTTTTGAGACACAGTCTTGCTCTGTTGCCCAGGCTGGATCCAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGGGATTCTCATGCCTCAGCCTTTCGAGTAGCTGGGATTACAGGCACGCACCATCACGCCTGGCTACTGTTTTGTTTTTGTTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTAAAGTGATTCACTCGCCTTGCCTCCCAAAGCACTGGGATTACAGATGTGAGCCACCGCGCCTGGCCGGCAGCCCCTTTTTTCTAACACCCACCCCTTTTTCTCCCCCAGACCTACCTGTTTCAGGAGGCTCAAGATGTCTAGTTGGCTCTTCAGGGTATAGCCAGGCAACACTGCATCAAACTGCTTCAGCCAATCAGGGCCAGTGTCTGGGCTCTTGCCTTCCAGACCCTTTTCCTTCCCACCTGCAGAAAGGAGTGGATCAGAGCCTCCCACCAGAATCACTCCCCTCAAGTCCCAAAGGGCTTCCCTGCCACACTCACCAGGACCCTCAGCTTCCCCCTTCTTTGGCTCAGTGCCTGCCCGGGCGGGGCTCTCTGGGAACAGCACCTCATAGGAGTTGGGGATCTTCATGCTCAGCAGCTCCGCCACTGCCACCATCACGCCATTCAGGTTCTGCCAGGGCCAGGGAAGGGATGGAAGAAACATATCAGCCAAGTGTCTGAGGTGAGCTCTACTACCAGCTGGGTGGGGACAAGGACACCTAGAACCCACTCCCCAGGGTAGTTCTATCCTATGTCACCCAGCTCTTTTCATACACTTCCCTCACAGCAGCCTTTCCCAAACTGCTGTGGGCACTGACGGGAGCTCCACG
|
GAATCACAGGCCCTCCCCCAGAAGTAAAACAGGAGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATAGTTTTGACAGCTCTCCACCCCGGGCAGCTGTGGGCACAGTTCATACTCACCTTAGCCTGAGTTTTTTTGGGGTTAGGCCAAAGTTCTCAGTGCCCGCCAAGCCCCCCAGCTCCCAGCCCCTTCCTTACTGATTCAGCTATGCGAAGCACGGCATGCACCGTCAGCCCAAAGAGCTCCTCGCCCTTCAGATACTCAGGGAAGAGTCGCAGCATGTCAGCCTCTTTTCTCATGGCAGCCACAGGCTCAATGATGCGATTCCACACGGCTAAGAAGCAGGGAAGAGAGCAGTCCTCAGAGGCAACTTCTGCTCACTGACCTCCAGTCCCTAACCCCAATCCAGAACTGCAGTTTTCTGAGGCCTTCAAGCCTCCCTATCATGAAGTTGTGTTGGTCTTCCAGATCCTCTCTTGGCCTCCTAGTCTCACTCTCTCTTAAGAAGCAGGAGGTTTCCAACCCCAAGGGGTCATCACAGAGCCTTGAGATACAAACCCAGGGCCCAGGAGACCCAGCATAGGCCATGGAAGGTCCCTAGTGAAAGAGCAGGCATGCTTTGGAGTTGGAAAGACTTGGGTTCAGGTTCTAGTACTGGTCATGAGACCTTGAGCCAAATACAGTCACGTGCAGCTTAACAACATTTCATTCAATGAGGAATCATATATACAACAGTGGTCTGGTAAGATTATAATACTGTACTGTATTTTTACTGTATCTTTTCTATGTCTAGATGCACATACTTACCGTATGTTACAACTGCCTACAGTATTCAGTACAGTTACATGCTGTACAGATTTGTAGCCTAGGAGCAATGGGGTATACCGCAGAGCCTAGGTGTGTAGTATGCTATGCCATCTAGGTTTGTGTAGTACACTCTATGAAGTTCACACAATGACAAAATCACCTAACAATGCATTTCTCAGAATGTATCCCTGTCATTTAGCAATGCACGACTGTACTGAAATCTGAGACTCAGTTTCTTTATGAACAAACTGGGCATAATCGTAGTATAATACTTACCTCATAGGGTTGTATGAACAAAATAAACTACACAAATCACTTAGCTTAGTTTGTGGCTCACAGTACACACTCAAAAAAAGGTACCTGCTCTTACTGTTATTTTATCATTAACACTAAAACTAAAATCAAAATAATTCTGATTTCGTCCAGGGAAAAACAACCCCAAGGAACTTGGTTAGGATTAGGTTGGGTGAGGCAGATGATAGTCTCAGAACTGTTTCCTTTTGTTCCACTGGGGATAGCAACAGAACTAGAATATGTGAGATTAGACCAGCAAAATATTTTCAACTACAAGGGAATTTAGGGTGACAAGAGAGGCTCAAACACTTTCACTGGGAGTTTTCAAGAGACCCCCTGCCTGCCTGAGGTGGGGGAAGGAGGATCATTCACATAGAAGCTACAGGTCCTCTTATAGACATTGTAACAGTGACCCTGGGAGAAACTTTTCCCATTCCATATTATCCATTTCAAGGGCCCACTGCTCACCCTGGGGAGAGGCGTCAGTGAAGACCAGGTCCTCCAGGCCCTGCTCGATGACTTTGATTACAAACTCCGGCCGCCCGTTGTTCTCACCAATAGAACAGCGATAGCAGCAGCAACGATTGTTGGTGCGGAGGCTCCAATAGATGCGCGTGGCCTCGTAGCCCACGGGATAGAGGGCAGTGGCACTATGAAAGTCAGCCATCTGGTGAGGCAGCAGCTGTCCGATGGCGTGGAACACAAGGCCCCCCACACGGAACATGTGCAGCCGTTCTCCCCGCTGAATGATGCTAGCGATTTGCTTCACCTCGTCCCGCTCAATGTAGACCCGCCGGAAGACAGCAAAAGAGCTCAGCTCTTGCTCACAGGGCCCCTTGATCTTATGCATTGGACACAGCATGGTCTTGTCCTTGAAGAACATGCACTTGGCACGGATGGCACAAGCAAAATGGTAGACATTGGGGCAACGCATGCGATTGCAGCTGCTGGTGGCACCAGTTCGCTGGCACAGGGAGCACTTGGTTAGCAGTCCTCGGTGCAGGGCAACCTCCACATTCATCAGTGCCCCGCCCTGGGTCTCATACACCTCCGTGGACCAAAGGGCACAGTTGAGGTGCACCCACAGGTCCAGGTCCAGGTTCAGCAGACGGGCAGGCCCATCAGTGGCCCCGTCACCCTCCTCATGACAGAAACAGCAGCGACGCATGTCTCGCGGTACCTTGTCAGGTCGCAAGGCTGTGCCAAGCTGCTCCATAAACTCTGCCACTTCCCGCTCATCCTCCTGCCGCCCACTGCCCTTCTGGATGGTCAGCAGCAGCCGAAGCCGCTTCCAGCGCACTCCTTTCCATTTCTTGAGGCGAGGAGGACGGGAATCTTCACCTTCTTCAGGGGGCCGGGCACGGGGCTTGGGTCGGGCTGATTCAGGGGATGAGGCCAGTGGCAGAGGTGAGGGGACGGGTGGCTCAGCCAAGGGTTCGGTGGGAAGTTCAACCAAGGGCTCAGTAGGGGGACTGGCAGGAGAAGGTGCCAAGGGGGAAGGGGGCGGGGAGGGTTCTTCAGGAGGTGGGGCCGAGAGCTGTCGCACATCCAGATTGGAGACATTGTAGGTATAGCTGTGCTGAGTGGGTGGCTCTGGGGCGGGGCTCTCCTGTAGGAGGGTGCCCTGTATCATTAGTGCCAGCTCCTCATCTAACTAGCTCCCTCCTTCCCCTCACCCATATGCCACCCTCCCAAAAGGCCTCCACATTCTTTGCCCTAGACAGCCTCTTTTTTCTTTTCTTTTCTTTTTTTTTTGAGACACAGTCTTGCTCTGTTGCCCAGGCTGGATCCAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGGGATTCTCATGCCTCAGCCTTTCGAGTAGCTGGGATTACAGGCACGCACCATCACGCCTGGCTACTGTTTTGTTTTTGTTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTAAAGTGATTCACTCGCCTTGCCTCCCAAAGCACTGGGATTACAGATGTGAGCCACCGCGCCTGGCCGGCAGCCCCTTTTTTCTAACACCCACCCCTTTTTCTCCCCCAGACCTACCTGTTTCAGGAGGCTCAAGATGTCTAGTTGGCTCTTCAGGGTATAGCCAGGCAACACTGCATCAAACTGCTTCAGCCAATCAGGGCCAGTGTCTGGGCTCTTGCCTTCCAGACCCTTTTCCTTCCCACCTGCAGAAAGGAGTGGATCAGAGCCTCCCACCAGAATCACTCCCCTCAAGTCCCAAAGGGCTTCCCTGCCACACTCACCAGGACCCTCAGCTTCCCCCTTCTTTGGCTCAGTGCCTGCCCGGGCGGGGCTCTCTGGGAACAGCACCTCATAGGAGTTGGGGATCTTCATGCTCAGCAGCTCCGCCACTGCCACCATCACGCCATTCAGGTTCTGCCAGGGCCAGGGAAGGGATGGAAGAAACATATCAGCCAAGTGTCTGAGGTGAGCTCTACTACCAGCTGGGTGGGGACAAGGACACCTAGAACCCACTCCCCAGGGTAGTTCTATCCTATGTCACCCAGCTCTTTTCATACACTTCCCTCACAGCAGCCTTTCCCAAACTGCTGTGGGCACTGACGGGAGCTCCACG
|
Task1_train_17564
|
This variant affects the gene KMT2D (lysine methyltransferase 2D) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
|
Pathogenic; Inborn genetic diseases
|
GAATCACAGGCCCTCCCCCAGAAGTAAAACAGGAGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATAGTTTTGACAGCTCTCCACCCCGGGCAGCTGTGGGCACAGTTCATACTCACCTTAGCCTGAGTTTTTTTGGGGTTAGGCCAAAGTTCTCAGTGCCCGCCAAGCCCCCCAGCTCCCAGCCCCTTCCTTACTGATTCAGCTATGCGAAGCACGGCATGCACCGTCAGCCCAAAGAGCTCCTCGCCCTTCAGATACTCAGGGAAGAGTCGCAGCATGTCAGCCTCTTTTCTCATGGCAGCCACAGGCTCAATGATGCGATTCCACACGGCTAAGAAGCAGGGAAGAGAGCAGTCCTCAGAGGCAACTTCTGCTCACTGACCTCCAGTCCCTAACCCCAATCCAGAACTGCAGTTTTCTGAGGCCTTCAAGCCTCCCTATCATGAAGTTGTGTTGGTCTTCCAGATCCTCTCTTGGCCTCCTAGTCTCACTCTCTCTTAAGAAGCAGGAGGTTTCCAACCCCAAGGGGTCATCACAGAGCCTTGAGATACAAACCCAGGGCCCAGGAGACCCAGCATAGGCCATGGAAGGTCCCTAGTGAAAGAGCAGGCATGCTTTGGAGTTGGAAAGACTTGGGTTCAGGTTCTAGTACTGGTCATGAGACCTTGAGCCAAATACAGTCACGTGCAGCTTAACAACATTTCATTCAATGAGGAATCATATATACAACAGTGGTCTGGTAAGATTATAATACTGTACTGTATTTTTACTGTATCTTTTCTATGTCTAGATGCACATACTTACCGTATGTTACAACTGCCTACAGTATTCAGTACAGTTACATGCTGTACAGATTTGTAGCCTAGGAGCAATGGGGTATACCGCAGAGCCTAGGTGTGTAGTATGCTATGCCATCTAGGTTTGTGTAGTACACTCTATGAAGTTCACACAATGACAAAATCACCTAACAATGCATTTCTCAGAATGTATCCCTGTCATTTAGCAATGCACGACTGTACTGAAATCTGAGACTCAGTTTCTTTATGAACAAACTGGGCATAATCGTAGTATAATACTTACCTCATAGGGTTGTATGAACAAAATAAACTACACAAATCACTTAGCTTAGTTTGTGGCTCACAGTACACACTCAAAAAAAGGTACCTGCTCTTACTGTTATTTTATCATTAACACTAAAACTAAAATCAAAATAATTCTGATTTCGTCCAGGGAAAAACAACCCCAAGGAACTTGGTTAGGATTAGGTTGGGTGAGGCAGATGATAGTCTCAGAACTGTTTCCTTTTGTTCCACTGGGGATAGCAACAGAACTAGAATATGTGAGATTAGACCAGCAAAATATTTTCAACTACAAGGGAATTTAGGGTGACAAGAGAGGCTCAAACACTTTCACTGGGAGTTTTCAAGAGACCCCCTGCCTGCCTGAGGTGGGGGAAGGAGGATCATTCACATAGAAGCTACAGGTCCTCTTATAGACATTGTAACAGTGACCCTGGGAGAAACTTTTCCCATTCCATATTATCCATTTCAAGGGCCCACTGCTCACCCTGGGGAGAGGCGTCAGTGAAGACCAGGTCCTCCAGGCCCTGCTCGATGACTTTGATTACAAACTCCGGCCGCCCGTTGTTCTCACCAATAGAACAGCGATAGCAGCAGCGACGATTGTTGGTGCGGAGGCTCCAATAGATGCGCGTGGCCTCGTAGCCCACGGGATAGAGGGCAGTGGCACTATGAAAGTCAGCCATCTGGTGAGGCAGCAGCTGTCCGATGGCGTGGAACACAAGGCCCCCCACACGGAACATGTGCAGCCGTTCTCCCCGCTGAATGATGCTAGCGATTTGCTTCACCTCGTCCCGCTCAATGTAGACCCGCCGGAAGACAGCAAAAGAGCTCAGCTCTTGCTCACAGGGCCCCTTGATCTTATGCATTGGACACAGCATGGTCTTGTCCTTGAAGAACATGCACTTGGCACGGATGGCACAAGCAAAATGGTAGACATTGGGGCAACGCATGCGATTGCAGCTGCTGGTGGCACCAGTTCGCTGGCACAGGGAGCACTTGGTTAGCAGTCCTCGGTGCAGGGCAACCTCCACATTCATCAGTGCCCCGCCCTGGGTCTCATACACCTCCGTGGACCAAAGGGCACAGTTGAGGTGCACCCACAGGTCCAGGTCCAGGTTCAGCAGACGGGCAGGCCCATCAGTGGCCCCGTCACCCTCCTCATGACAGAAACAGCAGCGACGCATGTCTCGCGGTACCTTGTCAGGTCGCAAGGCTGTGCCAAGCTGCTCCATAAACTCTGCCACTTCCCGCTCATCCTCCTGCCGCCCACTGCCCTTCTGGATGGTCAGCAGCAGCCGAAGCCGCTTCCAGCGCACTCCTTTCCATTTCTTGAGGCGAGGAGGACGGGAATCTTCACCTTCTTCAGGGGGCCGGGCACGGGGCTTGGGTCGGGCTGATTCAGGGGATGAGGCCAGTGGCAGAGGTGAGGGGACGGGTGGCTCAGCCAAGGGTTCGGTGGGAAGTTCAACCAAGGGCTCAGTAGGGGGACTGGCAGGAGAAGGTGCCAAGGGGGAAGGGGGCGGGGAGGGTTCTTCAGGAGGTGGGGCCGAGAGCTGTCGCACATCCAGATTGGAGACATTGTAGGTATAGCTGTGCTGAGTGGGTGGCTCTGGGGCGGGGCTCTCCTGTAGGAGGGTGCCCTGTATCATTAGTGCCAGCTCCTCATCTAACTAGCTCCCTCCTTCCCCTCACCCATATGCCACCCTCCCAAAAGGCCTCCACATTCTTTGCCCTAGACAGCCTCTTTTTTCTTTTCTTTTCTTTTTTTTTTGAGACACAGTCTTGCTCTGTTGCCCAGGCTGGATCCAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGGGATTCTCATGCCTCAGCCTTTCGAGTAGCTGGGATTACAGGCACGCACCATCACGCCTGGCTACTGTTTTGTTTTTGTTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTAAAGTGATTCACTCGCCTTGCCTCCCAAAGCACTGGGATTACAGATGTGAGCCACCGCGCCTGGCCGGCAGCCCCTTTTTTCTAACACCCACCCCTTTTTCTCCCCCAGACCTACCTGTTTCAGGAGGCTCAAGATGTCTAGTTGGCTCTTCAGGGTATAGCCAGGCAACACTGCATCAAACTGCTTCAGCCAATCAGGGCCAGTGTCTGGGCTCTTGCCTTCCAGACCCTTTTCCTTCCCACCTGCAGAAAGGAGTGGATCAGAGCCTCCCACCAGAATCACTCCCCTCAAGTCCCAAAGGGCTTCCCTGCCACACTCACCAGGACCCTCAGCTTCCCCCTTCTTTGGCTCAGTGCCTGCCCGGGCGGGGCTCTCTGGGAACAGCACCTCATAGGAGTTGGGGATCTTCATGCTCAGCAGCTCCGCCACTGCCACCATCACGCCATTCAGGTTCTGCCAGGGCCAGGGAAGGGATGGAAGAAACATATCAGCCAAGTGTCTGAGGTGAGCTCTACTACCAGCTGGGTGGGGACAAGGACACCTAGAACCCACTCCCCAGGGTAGTTCTATCCTATGTCACCCAGCTCTTTTCATACACTTCCCTCACAGCAGCCTTTCCCAAACTGCTGTGGGCACTGACGGGAGCTCCACG
|
GAATCACAGGCCCTCCCCCAGAAGTAAAACAGGAGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATAGTTTTGACAGCTCTCCACCCCGGGCAGCTGTGGGCACAGTTCATACTCACCTTAGCCTGAGTTTTTTTGGGGTTAGGCCAAAGTTCTCAGTGCCCGCCAAGCCCCCCAGCTCCCAGCCCCTTCCTTACTGATTCAGCTATGCGAAGCACGGCATGCACCGTCAGCCCAAAGAGCTCCTCGCCCTTCAGATACTCAGGGAAGAGTCGCAGCATGTCAGCCTCTTTTCTCATGGCAGCCACAGGCTCAATGATGCGATTCCACACGGCTAAGAAGCAGGGAAGAGAGCAGTCCTCAGAGGCAACTTCTGCTCACTGACCTCCAGTCCCTAACCCCAATCCAGAACTGCAGTTTTCTGAGGCCTTCAAGCCTCCCTATCATGAAGTTGTGTTGGTCTTCCAGATCCTCTCTTGGCCTCCTAGTCTCACTCTCTCTTAAGAAGCAGGAGGTTTCCAACCCCAAGGGGTCATCACAGAGCCTTGAGATACAAACCCAGGGCCCAGGAGACCCAGCATAGGCCATGGAAGGTCCCTAGTGAAAGAGCAGGCATGCTTTGGAGTTGGAAAGACTTGGGTTCAGGTTCTAGTACTGGTCATGAGACCTTGAGCCAAATACAGTCACGTGCAGCTTAACAACATTTCATTCAATGAGGAATCATATATACAACAGTGGTCTGGTAAGATTATAATACTGTACTGTATTTTTACTGTATCTTTTCTATGTCTAGATGCACATACTTACCGTATGTTACAACTGCCTACAGTATTCAGTACAGTTACATGCTGTACAGATTTGTAGCCTAGGAGCAATGGGGTATACCGCAGAGCCTAGGTGTGTAGTATGCTATGCCATCTAGGTTTGTGTAGTACACTCTATGAAGTTCACACAATGACAAAATCACCTAACAATGCATTTCTCAGAATGTATCCCTGTCATTTAGCAATGCACGACTGTACTGAAATCTGAGACTCAGTTTCTTTATGAACAAACTGGGCATAATCGTAGTATAATACTTACCTCATAGGGTTGTATGAACAAAATAAACTACACAAATCACTTAGCTTAGTTTGTGGCTCACAGTACACACTCAAAAAAAGGTACCTGCTCTTACTGTTATTTTATCATTAACACTAAAACTAAAATCAAAATAATTCTGATTTCGTCCAGGGAAAAACAACCCCAAGGAACTTGGTTAGGATTAGGTTGGGTGAGGCAGATGATAGTCTCAGAACTGTTTCCTTTTGTTCCACTGGGGATAGCAACAGAACTAGAATATGTGAGATTAGACCAGCAAAATATTTTCAACTACAAGGGAATTTAGGGTGACAAGAGAGGCTCAAACACTTTCACTGGGAGTTTTCAAGAGACCCCCTGCCTGCCTGAGGTGGGGGAAGGAGGATCATTCACATAGAAGCTACAGGTCCTCTTATAGACATTGTAACAGTGACCCTGGGAGAAACTTTTCCCATTCCATATTATCCATTTCAAGGGCCCACTGCTCACCCTGGGGAGAGGCGTCAGTGAAGACCAGGTCCTCCAGGCCCTGCTCGATGACTTTGATTACAAACTCCGGCCGCCCGTTGTTCTCACCAATAGAACAGCGATAGCAGCAGCAACGATTGTTGGTGCGGAGGCTCCAATAGATGCGCGTGGCCTCGTAGCCCACGGGATAGAGGGCAGTGGCACTATGAAAGTCAGCCATCTGGTGAGGCAGCAGCTGTCCGATGGCGTGGAACACAAGGCCCCCCACACGGAACATGTGCAGCCGTTCTCCCCGCTGAATGATGCTAGCGATTTGCTTCACCTCGTCCCGCTCAATGTAGACCCGCCGGAAGACAGCAAAAGAGCTCAGCTCTTGCTCACAGGGCCCCTTGATCTTATGCATTGGACACAGCATGGTCTTGTCCTTGAAGAACATGCACTTGGCACGGATGGCACAAGCAAAATGGTAGACATTGGGGCAACGCATGCGATTGCAGCTGCTGGTGGCACCAGTTCGCTGGCACAGGGAGCACTTGGTTAGCAGTCCTCGGTGCAGGGCAACCTCCACATTCATCAGTGCCCCGCCCTGGGTCTCATACACCTCCGTGGACCAAAGGGCACAGTTGAGGTGCACCCACAGGTCCAGGTCCAGGTTCAGCAGACGGGCAGGCCCATCAGTGGCCCCGTCACCCTCCTCATGACAGAAACAGCAGCGACGCATGTCTCGCGGTACCTTGTCAGGTCGCAAGGCTGTGCCAAGCTGCTCCATAAACTCTGCCACTTCCCGCTCATCCTCCTGCCGCCCACTGCCCTTCTGGATGGTCAGCAGCAGCCGAAGCCGCTTCCAGCGCACTCCTTTCCATTTCTTGAGGCGAGGAGGACGGGAATCTTCACCTTCTTCAGGGGGCCGGGCACGGGGCTTGGGTCGGGCTGATTCAGGGGATGAGGCCAGTGGCAGAGGTGAGGGGACGGGTGGCTCAGCCAAGGGTTCGGTGGGAAGTTCAACCAAGGGCTCAGTAGGGGGACTGGCAGGAGAAGGTGCCAAGGGGGAAGGGGGCGGGGAGGGTTCTTCAGGAGGTGGGGCCGAGAGCTGTCGCACATCCAGATTGGAGACATTGTAGGTATAGCTGTGCTGAGTGGGTGGCTCTGGGGCGGGGCTCTCCTGTAGGAGGGTGCCCTGTATCATTAGTGCCAGCTCCTCATCTAACTAGCTCCCTCCTTCCCCTCACCCATATGCCACCCTCCCAAAAGGCCTCCACATTCTTTGCCCTAGACAGCCTCTTTTTTCTTTTCTTTTCTTTTTTTTTTGAGACACAGTCTTGCTCTGTTGCCCAGGCTGGATCCAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGGGATTCTCATGCCTCAGCCTTTCGAGTAGCTGGGATTACAGGCACGCACCATCACGCCTGGCTACTGTTTTGTTTTTGTTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTAAAGTGATTCACTCGCCTTGCCTCCCAAAGCACTGGGATTACAGATGTGAGCCACCGCGCCTGGCCGGCAGCCCCTTTTTTCTAACACCCACCCCTTTTTCTCCCCCAGACCTACCTGTTTCAGGAGGCTCAAGATGTCTAGTTGGCTCTTCAGGGTATAGCCAGGCAACACTGCATCAAACTGCTTCAGCCAATCAGGGCCAGTGTCTGGGCTCTTGCCTTCCAGACCCTTTTCCTTCCCACCTGCAGAAAGGAGTGGATCAGAGCCTCCCACCAGAATCACTCCCCTCAAGTCCCAAAGGGCTTCCCTGCCACACTCACCAGGACCCTCAGCTTCCCCCTTCTTTGGCTCAGTGCCTGCCCGGGCGGGGCTCTCTGGGAACAGCACCTCATAGGAGTTGGGGATCTTCATGCTCAGCAGCTCCGCCACTGCCACCATCACGCCATTCAGGTTCTGCCAGGGCCAGGGAAGGGATGGAAGAAACATATCAGCCAAGTGTCTGAGGTGAGCTCTACTACCAGCTGGGTGGGGACAAGGACACCTAGAACCCACTCCCCAGGGTAGTTCTATCCTATGTCACCCAGCTCTTTTCATACACTTCCCTCACAGCAGCCTTTCCCAAACTGCTGTGGGCACTGACGGGAGCTCCACG
|
Task1_train_17565
|
Given this variant in gene KMT2D (lysine methyltransferase 2D) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
|
Pathogenic; Kabuki syndrome 1
|
GAGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATAGTTTTGACAGCTCTCCACCCCGGGCAGCTGTGGGCACAGTTCATACTCACCTTAGCCTGAGTTTTTTTGGGGTTAGGCCAAAGTTCTCAGTGCCCGCCAAGCCCCCCAGCTCCCAGCCCCTTCCTTACTGATTCAGCTATGCGAAGCACGGCATGCACCGTCAGCCCAAAGAGCTCCTCGCCCTTCAGATACTCAGGGAAGAGTCGCAGCATGTCAGCCTCTTTTCTCATGGCAGCCACAGGCTCAATGATGCGATTCCACACGGCTAAGAAGCAGGGAAGAGAGCAGTCCTCAGAGGCAACTTCTGCTCACTGACCTCCAGTCCCTAACCCCAATCCAGAACTGCAGTTTTCTGAGGCCTTCAAGCCTCCCTATCATGAAGTTGTGTTGGTCTTCCAGATCCTCTCTTGGCCTCCTAGTCTCACTCTCTCTTAAGAAGCAGGAGGTTTCCAACCCCAAGGGGTCATCACAGAGCCTTGAGATACAAACCCAGGGCCCAGGAGACCCAGCATAGGCCATGGAAGGTCCCTAGTGAAAGAGCAGGCATGCTTTGGAGTTGGAAAGACTTGGGTTCAGGTTCTAGTACTGGTCATGAGACCTTGAGCCAAATACAGTCACGTGCAGCTTAACAACATTTCATTCAATGAGGAATCATATATACAACAGTGGTCTGGTAAGATTATAATACTGTACTGTATTTTTACTGTATCTTTTCTATGTCTAGATGCACATACTTACCGTATGTTACAACTGCCTACAGTATTCAGTACAGTTACATGCTGTACAGATTTGTAGCCTAGGAGCAATGGGGTATACCGCAGAGCCTAGGTGTGTAGTATGCTATGCCATCTAGGTTTGTGTAGTACACTCTATGAAGTTCACACAATGACAAAATCACCTAACAATGCATTTCTCAGAATGTATCCCTGTCATTTAGCAATGCACGACTGTACTGAAATCTGAGACTCAGTTTCTTTATGAACAAACTGGGCATAATCGTAGTATAATACTTACCTCATAGGGTTGTATGAACAAAATAAACTACACAAATCACTTAGCTTAGTTTGTGGCTCACAGTACACACTCAAAAAAAGGTACCTGCTCTTACTGTTATTTTATCATTAACACTAAAACTAAAATCAAAATAATTCTGATTTCGTCCAGGGAAAAACAACCCCAAGGAACTTGGTTAGGATTAGGTTGGGTGAGGCAGATGATAGTCTCAGAACTGTTTCCTTTTGTTCCACTGGGGATAGCAACAGAACTAGAATATGTGAGATTAGACCAGCAAAATATTTTCAACTACAAGGGAATTTAGGGTGACAAGAGAGGCTCAAACACTTTCACTGGGAGTTTTCAAGAGACCCCCTGCCTGCCTGAGGTGGGGGAAGGAGGATCATTCACATAGAAGCTACAGGTCCTCTTATAGACATTGTAACAGTGACCCTGGGAGAAACTTTTCCCATTCCATATTATCCATTTCAAGGGCCCACTGCTCACCCTGGGGAGAGGCGTCAGTGAAGACCAGGTCCTCCAGGCCCTGCTCGATGACTTTGATTACAAACTCCGGCCGCCCGTTGTTCTCACCAATAGAACAGCGATAGCAGCAGCGACGATTGTTGGTGCGGAGGCTCCAATAGATGCGCGTGGCCTCGTAGCCCACGGGATAGAGGGCAGTGGCACTATGAAAGTCAGCCATCTGGTGAGGCAGCAGCTGTCCGATGGCGTGGAACACAAGGCCCCCCACACGGAACATGTGCAGCCGTTCTCCCCGCTGAATGATGCTAGCGATTTGCTTCACCTCGTCCCGCTCAATGTAGACCCGCCGGAAGACAGCAAAAGAGCTCAGCTCTTGCTCACAGGGCCCCTTGATCTTATGCATTGGACACAGCATGGTCTTGTCCTTGAAGAACATGCACTTGGCACGGATGGCACAAGCAAAATGGTAGACATTGGGGCAACGCATGCGATTGCAGCTGCTGGTGGCACCAGTTCGCTGGCACAGGGAGCACTTGGTTAGCAGTCCTCGGTGCAGGGCAACCTCCACATTCATCAGTGCCCCGCCCTGGGTCTCATACACCTCCGTGGACCAAAGGGCACAGTTGAGGTGCACCCACAGGTCCAGGTCCAGGTTCAGCAGACGGGCAGGCCCATCAGTGGCCCCGTCACCCTCCTCATGACAGAAACAGCAGCGACGCATGTCTCGCGGTACCTTGTCAGGTCGCAAGGCTGTGCCAAGCTGCTCCATAAACTCTGCCACTTCCCGCTCATCCTCCTGCCGCCCACTGCCCTTCTGGATGGTCAGCAGCAGCCGAAGCCGCTTCCAGCGCACTCCTTTCCATTTCTTGAGGCGAGGAGGACGGGAATCTTCACCTTCTTCAGGGGGCCGGGCACGGGGCTTGGGTCGGGCTGATTCAGGGGATGAGGCCAGTGGCAGAGGTGAGGGGACGGGTGGCTCAGCCAAGGGTTCGGTGGGAAGTTCAACCAAGGGCTCAGTAGGGGGACTGGCAGGAGAAGGTGCCAAGGGGGAAGGGGGCGGGGAGGGTTCTTCAGGAGGTGGGGCCGAGAGCTGTCGCACATCCAGATTGGAGACATTGTAGGTATAGCTGTGCTGAGTGGGTGGCTCTGGGGCGGGGCTCTCCTGTAGGAGGGTGCCCTGTATCATTAGTGCCAGCTCCTCATCTAACTAGCTCCCTCCTTCCCCTCACCCATATGCCACCCTCCCAAAAGGCCTCCACATTCTTTGCCCTAGACAGCCTCTTTTTTCTTTTCTTTTCTTTTTTTTTTGAGACACAGTCTTGCTCTGTTGCCCAGGCTGGATCCAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGGGATTCTCATGCCTCAGCCTTTCGAGTAGCTGGGATTACAGGCACGCACCATCACGCCTGGCTACTGTTTTGTTTTTGTTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTAAAGTGATTCACTCGCCTTGCCTCCCAAAGCACTGGGATTACAGATGTGAGCCACCGCGCCTGGCCGGCAGCCCCTTTTTTCTAACACCCACCCCTTTTTCTCCCCCAGACCTACCTGTTTCAGGAGGCTCAAGATGTCTAGTTGGCTCTTCAGGGTATAGCCAGGCAACACTGCATCAAACTGCTTCAGCCAATCAGGGCCAGTGTCTGGGCTCTTGCCTTCCAGACCCTTTTCCTTCCCACCTGCAGAAAGGAGTGGATCAGAGCCTCCCACCAGAATCACTCCCCTCAAGTCCCAAAGGGCTTCCCTGCCACACTCACCAGGACCCTCAGCTTCCCCCTTCTTTGGCTCAGTGCCTGCCCGGGCGGGGCTCTCTGGGAACAGCACCTCATAGGAGTTGGGGATCTTCATGCTCAGCAGCTCCGCCACTGCCACCATCACGCCATTCAGGTTCTGCCAGGGCCAGGGAAGGGATGGAAGAAACATATCAGCCAAGTGTCTGAGGTGAGCTCTACTACCAGCTGGGTGGGGACAAGGACACCTAGAACCCACTCCCCAGGGTAGTTCTATCCTATGTCACCCAGCTCTTTTCATACACTTCCCTCACAGCAGCCTTTCCCAAACTGCTGTGGGCACTGACGGGAGCTCCACGAAAAGGGAACTACATCAACTACGTTTAGGAAA
|
GAGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATAGTTTTGACAGCTCTCCACCCCGGGCAGCTGTGGGCACAGTTCATACTCACCTTAGCCTGAGTTTTTTTGGGGTTAGGCCAAAGTTCTCAGTGCCCGCCAAGCCCCCCAGCTCCCAGCCCCTTCCTTACTGATTCAGCTATGCGAAGCACGGCATGCACCGTCAGCCCAAAGAGCTCCTCGCCCTTCAGATACTCAGGGAAGAGTCGCAGCATGTCAGCCTCTTTTCTCATGGCAGCCACAGGCTCAATGATGCGATTCCACACGGCTAAGAAGCAGGGAAGAGAGCAGTCCTCAGAGGCAACTTCTGCTCACTGACCTCCAGTCCCTAACCCCAATCCAGAACTGCAGTTTTCTGAGGCCTTCAAGCCTCCCTATCATGAAGTTGTGTTGGTCTTCCAGATCCTCTCTTGGCCTCCTAGTCTCACTCTCTCTTAAGAAGCAGGAGGTTTCCAACCCCAAGGGGTCATCACAGAGCCTTGAGATACAAACCCAGGGCCCAGGAGACCCAGCATAGGCCATGGAAGGTCCCTAGTGAAAGAGCAGGCATGCTTTGGAGTTGGAAAGACTTGGGTTCAGGTTCTAGTACTGGTCATGAGACCTTGAGCCAAATACAGTCACGTGCAGCTTAACAACATTTCATTCAATGAGGAATCATATATACAACAGTGGTCTGGTAAGATTATAATACTGTACTGTATTTTTACTGTATCTTTTCTATGTCTAGATGCACATACTTACCGTATGTTACAACTGCCTACAGTATTCAGTACAGTTACATGCTGTACAGATTTGTAGCCTAGGAGCAATGGGGTATACCGCAGAGCCTAGGTGTGTAGTATGCTATGCCATCTAGGTTTGTGTAGTACACTCTATGAAGTTCACACAATGACAAAATCACCTAACAATGCATTTCTCAGAATGTATCCCTGTCATTTAGCAATGCACGACTGTACTGAAATCTGAGACTCAGTTTCTTTATGAACAAACTGGGCATAATCGTAGTATAATACTTACCTCATAGGGTTGTATGAACAAAATAAACTACACAAATCACTTAGCTTAGTTTGTGGCTCACAGTACACACTCAAAAAAAGGTACCTGCTCTTACTGTTATTTTATCATTAACACTAAAACTAAAATCAAAATAATTCTGATTTCGTCCAGGGAAAAACAACCCCAAGGAACTTGGTTAGGATTAGGTTGGGTGAGGCAGATGATAGTCTCAGAACTGTTTCCTTTTGTTCCACTGGGGATAGCAACAGAACTAGAATATGTGAGATTAGACCAGCAAAATATTTTCAACTACAAGGGAATTTAGGGTGACAAGAGAGGCTCAAACACTTTCACTGGGAGTTTTCAAGAGACCCCCTGCCTGCCTGAGGTGGGGGAAGGAGGATCATTCACATAGAAGCTACAGGTCCTCTTATAGACATTGTAACAGTGACCCTGGGAGAAACTTTTCCCATTCCATATTATCCATTTCAAGGGCCCACTGCTCACCCTGGGGAGAGGCGTCAGTGAAGACCAGGTCCTCCAGGCCCTGCTCGATGACTTTGATTACAAACTCCGGCCGCCCGTTGTTCTCACCAATAGAACAGCGATAGCAGCAGCGACGATTGTTGGTGCGGAGGCTCCAATAGATGGGCGTGGCCTCGTAGCCCACGGGATAGAGGGCAGTGGCACTATGAAAGTCAGCCATCTGGTGAGGCAGCAGCTGTCCGATGGCGTGGAACACAAGGCCCCCCACACGGAACATGTGCAGCCGTTCTCCCCGCTGAATGATGCTAGCGATTTGCTTCACCTCGTCCCGCTCAATGTAGACCCGCCGGAAGACAGCAAAAGAGCTCAGCTCTTGCTCACAGGGCCCCTTGATCTTATGCATTGGACACAGCATGGTCTTGTCCTTGAAGAACATGCACTTGGCACGGATGGCACAAGCAAAATGGTAGACATTGGGGCAACGCATGCGATTGCAGCTGCTGGTGGCACCAGTTCGCTGGCACAGGGAGCACTTGGTTAGCAGTCCTCGGTGCAGGGCAACCTCCACATTCATCAGTGCCCCGCCCTGGGTCTCATACACCTCCGTGGACCAAAGGGCACAGTTGAGGTGCACCCACAGGTCCAGGTCCAGGTTCAGCAGACGGGCAGGCCCATCAGTGGCCCCGTCACCCTCCTCATGACAGAAACAGCAGCGACGCATGTCTCGCGGTACCTTGTCAGGTCGCAAGGCTGTGCCAAGCTGCTCCATAAACTCTGCCACTTCCCGCTCATCCTCCTGCCGCCCACTGCCCTTCTGGATGGTCAGCAGCAGCCGAAGCCGCTTCCAGCGCACTCCTTTCCATTTCTTGAGGCGAGGAGGACGGGAATCTTCACCTTCTTCAGGGGGCCGGGCACGGGGCTTGGGTCGGGCTGATTCAGGGGATGAGGCCAGTGGCAGAGGTGAGGGGACGGGTGGCTCAGCCAAGGGTTCGGTGGGAAGTTCAACCAAGGGCTCAGTAGGGGGACTGGCAGGAGAAGGTGCCAAGGGGGAAGGGGGCGGGGAGGGTTCTTCAGGAGGTGGGGCCGAGAGCTGTCGCACATCCAGATTGGAGACATTGTAGGTATAGCTGTGCTGAGTGGGTGGCTCTGGGGCGGGGCTCTCCTGTAGGAGGGTGCCCTGTATCATTAGTGCCAGCTCCTCATCTAACTAGCTCCCTCCTTCCCCTCACCCATATGCCACCCTCCCAAAAGGCCTCCACATTCTTTGCCCTAGACAGCCTCTTTTTTCTTTTCTTTTCTTTTTTTTTTGAGACACAGTCTTGCTCTGTTGCCCAGGCTGGATCCAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGGGATTCTCATGCCTCAGCCTTTCGAGTAGCTGGGATTACAGGCACGCACCATCACGCCTGGCTACTGTTTTGTTTTTGTTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTAAAGTGATTCACTCGCCTTGCCTCCCAAAGCACTGGGATTACAGATGTGAGCCACCGCGCCTGGCCGGCAGCCCCTTTTTTCTAACACCCACCCCTTTTTCTCCCCCAGACCTACCTGTTTCAGGAGGCTCAAGATGTCTAGTTGGCTCTTCAGGGTATAGCCAGGCAACACTGCATCAAACTGCTTCAGCCAATCAGGGCCAGTGTCTGGGCTCTTGCCTTCCAGACCCTTTTCCTTCCCACCTGCAGAAAGGAGTGGATCAGAGCCTCCCACCAGAATCACTCCCCTCAAGTCCCAAAGGGCTTCCCTGCCACACTCACCAGGACCCTCAGCTTCCCCCTTCTTTGGCTCAGTGCCTGCCCGGGCGGGGCTCTCTGGGAACAGCACCTCATAGGAGTTGGGGATCTTCATGCTCAGCAGCTCCGCCACTGCCACCATCACGCCATTCAGGTTCTGCCAGGGCCAGGGAAGGGATGGAAGAAACATATCAGCCAAGTGTCTGAGGTGAGCTCTACTACCAGCTGGGTGGGGACAAGGACACCTAGAACCCACTCCCCAGGGTAGTTCTATCCTATGTCACCCAGCTCTTTTCATACACTTCCCTCACAGCAGCCTTTCCCAAACTGCTGTGGGCACTGACGGGAGCTCCACGAAAAGGGAACTACATCAACTACGTTTAGGAAA
|
Task1_train_17566
|
This is a variant in KMT2D (lysine methyltransferase 2D), located on Chromosome 12. Is this mutation a likely cause of disease or not?
|
Pathogenic; Kabuki syndrome 1
|
AGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATAGTTTTGACAGCTCTCCACCCCGGGCAGCTGTGGGCACAGTTCATACTCACCTTAGCCTGAGTTTTTTTGGGGTTAGGCCAAAGTTCTCAGTGCCCGCCAAGCCCCCCAGCTCCCAGCCCCTTCCTTACTGATTCAGCTATGCGAAGCACGGCATGCACCGTCAGCCCAAAGAGCTCCTCGCCCTTCAGATACTCAGGGAAGAGTCGCAGCATGTCAGCCTCTTTTCTCATGGCAGCCACAGGCTCAATGATGCGATTCCACACGGCTAAGAAGCAGGGAAGAGAGCAGTCCTCAGAGGCAACTTCTGCTCACTGACCTCCAGTCCCTAACCCCAATCCAGAACTGCAGTTTTCTGAGGCCTTCAAGCCTCCCTATCATGAAGTTGTGTTGGTCTTCCAGATCCTCTCTTGGCCTCCTAGTCTCACTCTCTCTTAAGAAGCAGGAGGTTTCCAACCCCAAGGGGTCATCACAGAGCCTTGAGATACAAACCCAGGGCCCAGGAGACCCAGCATAGGCCATGGAAGGTCCCTAGTGAAAGAGCAGGCATGCTTTGGAGTTGGAAAGACTTGGGTTCAGGTTCTAGTACTGGTCATGAGACCTTGAGCCAAATACAGTCACGTGCAGCTTAACAACATTTCATTCAATGAGGAATCATATATACAACAGTGGTCTGGTAAGATTATAATACTGTACTGTATTTTTACTGTATCTTTTCTATGTCTAGATGCACATACTTACCGTATGTTACAACTGCCTACAGTATTCAGTACAGTTACATGCTGTACAGATTTGTAGCCTAGGAGCAATGGGGTATACCGCAGAGCCTAGGTGTGTAGTATGCTATGCCATCTAGGTTTGTGTAGTACACTCTATGAAGTTCACACAATGACAAAATCACCTAACAATGCATTTCTCAGAATGTATCCCTGTCATTTAGCAATGCACGACTGTACTGAAATCTGAGACTCAGTTTCTTTATGAACAAACTGGGCATAATCGTAGTATAATACTTACCTCATAGGGTTGTATGAACAAAATAAACTACACAAATCACTTAGCTTAGTTTGTGGCTCACAGTACACACTCAAAAAAAGGTACCTGCTCTTACTGTTATTTTATCATTAACACTAAAACTAAAATCAAAATAATTCTGATTTCGTCCAGGGAAAAACAACCCCAAGGAACTTGGTTAGGATTAGGTTGGGTGAGGCAGATGATAGTCTCAGAACTGTTTCCTTTTGTTCCACTGGGGATAGCAACAGAACTAGAATATGTGAGATTAGACCAGCAAAATATTTTCAACTACAAGGGAATTTAGGGTGACAAGAGAGGCTCAAACACTTTCACTGGGAGTTTTCAAGAGACCCCCTGCCTGCCTGAGGTGGGGGAAGGAGGATCATTCACATAGAAGCTACAGGTCCTCTTATAGACATTGTAACAGTGACCCTGGGAGAAACTTTTCCCATTCCATATTATCCATTTCAAGGGCCCACTGCTCACCCTGGGGAGAGGCGTCAGTGAAGACCAGGTCCTCCAGGCCCTGCTCGATGACTTTGATTACAAACTCCGGCCGCCCGTTGTTCTCACCAATAGAACAGCGATAGCAGCAGCGACGATTGTTGGTGCGGAGGCTCCAATAGATGCGCGTGGCCTCGTAGCCCACGGGATAGAGGGCAGTGGCACTATGAAAGTCAGCCATCTGGTGAGGCAGCAGCTGTCCGATGGCGTGGAACACAAGGCCCCCCACACGGAACATGTGCAGCCGTTCTCCCCGCTGAATGATGCTAGCGATTTGCTTCACCTCGTCCCGCTCAATGTAGACCCGCCGGAAGACAGCAAAAGAGCTCAGCTCTTGCTCACAGGGCCCCTTGATCTTATGCATTGGACACAGCATGGTCTTGTCCTTGAAGAACATGCACTTGGCACGGATGGCACAAGCAAAATGGTAGACATTGGGGCAACGCATGCGATTGCAGCTGCTGGTGGCACCAGTTCGCTGGCACAGGGAGCACTTGGTTAGCAGTCCTCGGTGCAGGGCAACCTCCACATTCATCAGTGCCCCGCCCTGGGTCTCATACACCTCCGTGGACCAAAGGGCACAGTTGAGGTGCACCCACAGGTCCAGGTCCAGGTTCAGCAGACGGGCAGGCCCATCAGTGGCCCCGTCACCCTCCTCATGACAGAAACAGCAGCGACGCATGTCTCGCGGTACCTTGTCAGGTCGCAAGGCTGTGCCAAGCTGCTCCATAAACTCTGCCACTTCCCGCTCATCCTCCTGCCGCCCACTGCCCTTCTGGATGGTCAGCAGCAGCCGAAGCCGCTTCCAGCGCACTCCTTTCCATTTCTTGAGGCGAGGAGGACGGGAATCTTCACCTTCTTCAGGGGGCCGGGCACGGGGCTTGGGTCGGGCTGATTCAGGGGATGAGGCCAGTGGCAGAGGTGAGGGGACGGGTGGCTCAGCCAAGGGTTCGGTGGGAAGTTCAACCAAGGGCTCAGTAGGGGGACTGGCAGGAGAAGGTGCCAAGGGGGAAGGGGGCGGGGAGGGTTCTTCAGGAGGTGGGGCCGAGAGCTGTCGCACATCCAGATTGGAGACATTGTAGGTATAGCTGTGCTGAGTGGGTGGCTCTGGGGCGGGGCTCTCCTGTAGGAGGGTGCCCTGTATCATTAGTGCCAGCTCCTCATCTAACTAGCTCCCTCCTTCCCCTCACCCATATGCCACCCTCCCAAAAGGCCTCCACATTCTTTGCCCTAGACAGCCTCTTTTTTCTTTTCTTTTCTTTTTTTTTTGAGACACAGTCTTGCTCTGTTGCCCAGGCTGGATCCAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGGGATTCTCATGCCTCAGCCTTTCGAGTAGCTGGGATTACAGGCACGCACCATCACGCCTGGCTACTGTTTTGTTTTTGTTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTAAAGTGATTCACTCGCCTTGCCTCCCAAAGCACTGGGATTACAGATGTGAGCCACCGCGCCTGGCCGGCAGCCCCTTTTTTCTAACACCCACCCCTTTTTCTCCCCCAGACCTACCTGTTTCAGGAGGCTCAAGATGTCTAGTTGGCTCTTCAGGGTATAGCCAGGCAACACTGCATCAAACTGCTTCAGCCAATCAGGGCCAGTGTCTGGGCTCTTGCCTTCCAGACCCTTTTCCTTCCCACCTGCAGAAAGGAGTGGATCAGAGCCTCCCACCAGAATCACTCCCCTCAAGTCCCAAAGGGCTTCCCTGCCACACTCACCAGGACCCTCAGCTTCCCCCTTCTTTGGCTCAGTGCCTGCCCGGGCGGGGCTCTCTGGGAACAGCACCTCATAGGAGTTGGGGATCTTCATGCTCAGCAGCTCCGCCACTGCCACCATCACGCCATTCAGGTTCTGCCAGGGCCAGGGAAGGGATGGAAGAAACATATCAGCCAAGTGTCTGAGGTGAGCTCTACTACCAGCTGGGTGGGGACAAGGACACCTAGAACCCACTCCCCAGGGTAGTTCTATCCTATGTCACCCAGCTCTTTTCATACACTTCCCTCACAGCAGCCTTTCCCAAACTGCTGTGGGCACTGACGGGAGCTCCACGAAAAGGGAACTACATCAACTACGTTTAGGAAAT
|
AGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATAGTTTTGACAGCTCTCCACCCCGGGCAGCTGTGGGCACAGTTCATACTCACCTTAGCCTGAGTTTTTTTGGGGTTAGGCCAAAGTTCTCAGTGCCCGCCAAGCCCCCCAGCTCCCAGCCCCTTCCTTACTGATTCAGCTATGCGAAGCACGGCATGCACCGTCAGCCCAAAGAGCTCCTCGCCCTTCAGATACTCAGGGAAGAGTCGCAGCATGTCAGCCTCTTTTCTCATGGCAGCCACAGGCTCAATGATGCGATTCCACACGGCTAAGAAGCAGGGAAGAGAGCAGTCCTCAGAGGCAACTTCTGCTCACTGACCTCCAGTCCCTAACCCCAATCCAGAACTGCAGTTTTCTGAGGCCTTCAAGCCTCCCTATCATGAAGTTGTGTTGGTCTTCCAGATCCTCTCTTGGCCTCCTAGTCTCACTCTCTCTTAAGAAGCAGGAGGTTTCCAACCCCAAGGGGTCATCACAGAGCCTTGAGATACAAACCCAGGGCCCAGGAGACCCAGCATAGGCCATGGAAGGTCCCTAGTGAAAGAGCAGGCATGCTTTGGAGTTGGAAAGACTTGGGTTCAGGTTCTAGTACTGGTCATGAGACCTTGAGCCAAATACAGTCACGTGCAGCTTAACAACATTTCATTCAATGAGGAATCATATATACAACAGTGGTCTGGTAAGATTATAATACTGTACTGTATTTTTACTGTATCTTTTCTATGTCTAGATGCACATACTTACCGTATGTTACAACTGCCTACAGTATTCAGTACAGTTACATGCTGTACAGATTTGTAGCCTAGGAGCAATGGGGTATACCGCAGAGCCTAGGTGTGTAGTATGCTATGCCATCTAGGTTTGTGTAGTACACTCTATGAAGTTCACACAATGACAAAATCACCTAACAATGCATTTCTCAGAATGTATCCCTGTCATTTAGCAATGCACGACTGTACTGAAATCTGAGACTCAGTTTCTTTATGAACAAACTGGGCATAATCGTAGTATAATACTTACCTCATAGGGTTGTATGAACAAAATAAACTACACAAATCACTTAGCTTAGTTTGTGGCTCACAGTACACACTCAAAAAAAGGTACCTGCTCTTACTGTTATTTTATCATTAACACTAAAACTAAAATCAAAATAATTCTGATTTCGTCCAGGGAAAAACAACCCCAAGGAACTTGGTTAGGATTAGGTTGGGTGAGGCAGATGATAGTCTCAGAACTGTTTCCTTTTGTTCCACTGGGGATAGCAACAGAACTAGAATATGTGAGATTAGACCAGCAAAATATTTTCAACTACAAGGGAATTTAGGGTGACAAGAGAGGCTCAAACACTTTCACTGGGAGTTTTCAAGAGACCCCCTGCCTGCCTGAGGTGGGGGAAGGAGGATCATTCACATAGAAGCTACAGGTCCTCTTATAGACATTGTAACAGTGACCCTGGGAGAAACTTTTCCCATTCCATATTATCCATTTCAAGGGCCCACTGCTCACCCTGGGGAGAGGCGTCAGTGAAGACCAGGTCCTCCAGGCCCTGCTCGATGACTTTGATTACAAACTCCGGCCGCCCGTTGTTCTCACCAATAGAACAGCGATAGCAGCAGCGACGATTGTTGGTGCGGAGGCTCCAATAGATGCACGTGGCCTCGTAGCCCACGGGATAGAGGGCAGTGGCACTATGAAAGTCAGCCATCTGGTGAGGCAGCAGCTGTCCGATGGCGTGGAACACAAGGCCCCCCACACGGAACATGTGCAGCCGTTCTCCCCGCTGAATGATGCTAGCGATTTGCTTCACCTCGTCCCGCTCAATGTAGACCCGCCGGAAGACAGCAAAAGAGCTCAGCTCTTGCTCACAGGGCCCCTTGATCTTATGCATTGGACACAGCATGGTCTTGTCCTTGAAGAACATGCACTTGGCACGGATGGCACAAGCAAAATGGTAGACATTGGGGCAACGCATGCGATTGCAGCTGCTGGTGGCACCAGTTCGCTGGCACAGGGAGCACTTGGTTAGCAGTCCTCGGTGCAGGGCAACCTCCACATTCATCAGTGCCCCGCCCTGGGTCTCATACACCTCCGTGGACCAAAGGGCACAGTTGAGGTGCACCCACAGGTCCAGGTCCAGGTTCAGCAGACGGGCAGGCCCATCAGTGGCCCCGTCACCCTCCTCATGACAGAAACAGCAGCGACGCATGTCTCGCGGTACCTTGTCAGGTCGCAAGGCTGTGCCAAGCTGCTCCATAAACTCTGCCACTTCCCGCTCATCCTCCTGCCGCCCACTGCCCTTCTGGATGGTCAGCAGCAGCCGAAGCCGCTTCCAGCGCACTCCTTTCCATTTCTTGAGGCGAGGAGGACGGGAATCTTCACCTTCTTCAGGGGGCCGGGCACGGGGCTTGGGTCGGGCTGATTCAGGGGATGAGGCCAGTGGCAGAGGTGAGGGGACGGGTGGCTCAGCCAAGGGTTCGGTGGGAAGTTCAACCAAGGGCTCAGTAGGGGGACTGGCAGGAGAAGGTGCCAAGGGGGAAGGGGGCGGGGAGGGTTCTTCAGGAGGTGGGGCCGAGAGCTGTCGCACATCCAGATTGGAGACATTGTAGGTATAGCTGTGCTGAGTGGGTGGCTCTGGGGCGGGGCTCTCCTGTAGGAGGGTGCCCTGTATCATTAGTGCCAGCTCCTCATCTAACTAGCTCCCTCCTTCCCCTCACCCATATGCCACCCTCCCAAAAGGCCTCCACATTCTTTGCCCTAGACAGCCTCTTTTTTCTTTTCTTTTCTTTTTTTTTTGAGACACAGTCTTGCTCTGTTGCCCAGGCTGGATCCAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGGGATTCTCATGCCTCAGCCTTTCGAGTAGCTGGGATTACAGGCACGCACCATCACGCCTGGCTACTGTTTTGTTTTTGTTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTAAAGTGATTCACTCGCCTTGCCTCCCAAAGCACTGGGATTACAGATGTGAGCCACCGCGCCTGGCCGGCAGCCCCTTTTTTCTAACACCCACCCCTTTTTCTCCCCCAGACCTACCTGTTTCAGGAGGCTCAAGATGTCTAGTTGGCTCTTCAGGGTATAGCCAGGCAACACTGCATCAAACTGCTTCAGCCAATCAGGGCCAGTGTCTGGGCTCTTGCCTTCCAGACCCTTTTCCTTCCCACCTGCAGAAAGGAGTGGATCAGAGCCTCCCACCAGAATCACTCCCCTCAAGTCCCAAAGGGCTTCCCTGCCACACTCACCAGGACCCTCAGCTTCCCCCTTCTTTGGCTCAGTGCCTGCCCGGGCGGGGCTCTCTGGGAACAGCACCTCATAGGAGTTGGGGATCTTCATGCTCAGCAGCTCCGCCACTGCCACCATCACGCCATTCAGGTTCTGCCAGGGCCAGGGAAGGGATGGAAGAAACATATCAGCCAAGTGTCTGAGGTGAGCTCTACTACCAGCTGGGTGGGGACAAGGACACCTAGAACCCACTCCCCAGGGTAGTTCTATCCTATGTCACCCAGCTCTTTTCATACACTTCCCTCACAGCAGCCTTTCCCAAACTGCTGTGGGCACTGACGGGAGCTCCACGAAAAGGGAACTACATCAACTACGTTTAGGAAAT
|
Task1_train_17567
|
This sequence change occurs on Chromosome 12, altering KMT2D (lysine methyltransferase 2D). What is the medical significance of this variant — is it benign or linked to a disease?
|
Pathogenic; Kabuki syndrome
|
AGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATAGTTTTGACAGCTCTCCACCCCGGGCAGCTGTGGGCACAGTTCATACTCACCTTAGCCTGAGTTTTTTTGGGGTTAGGCCAAAGTTCTCAGTGCCCGCCAAGCCCCCCAGCTCCCAGCCCCTTCCTTACTGATTCAGCTATGCGAAGCACGGCATGCACCGTCAGCCCAAAGAGCTCCTCGCCCTTCAGATACTCAGGGAAGAGTCGCAGCATGTCAGCCTCTTTTCTCATGGCAGCCACAGGCTCAATGATGCGATTCCACACGGCTAAGAAGCAGGGAAGAGAGCAGTCCTCAGAGGCAACTTCTGCTCACTGACCTCCAGTCCCTAACCCCAATCCAGAACTGCAGTTTTCTGAGGCCTTCAAGCCTCCCTATCATGAAGTTGTGTTGGTCTTCCAGATCCTCTCTTGGCCTCCTAGTCTCACTCTCTCTTAAGAAGCAGGAGGTTTCCAACCCCAAGGGGTCATCACAGAGCCTTGAGATACAAACCCAGGGCCCAGGAGACCCAGCATAGGCCATGGAAGGTCCCTAGTGAAAGAGCAGGCATGCTTTGGAGTTGGAAAGACTTGGGTTCAGGTTCTAGTACTGGTCATGAGACCTTGAGCCAAATACAGTCACGTGCAGCTTAACAACATTTCATTCAATGAGGAATCATATATACAACAGTGGTCTGGTAAGATTATAATACTGTACTGTATTTTTACTGTATCTTTTCTATGTCTAGATGCACATACTTACCGTATGTTACAACTGCCTACAGTATTCAGTACAGTTACATGCTGTACAGATTTGTAGCCTAGGAGCAATGGGGTATACCGCAGAGCCTAGGTGTGTAGTATGCTATGCCATCTAGGTTTGTGTAGTACACTCTATGAAGTTCACACAATGACAAAATCACCTAACAATGCATTTCTCAGAATGTATCCCTGTCATTTAGCAATGCACGACTGTACTGAAATCTGAGACTCAGTTTCTTTATGAACAAACTGGGCATAATCGTAGTATAATACTTACCTCATAGGGTTGTATGAACAAAATAAACTACACAAATCACTTAGCTTAGTTTGTGGCTCACAGTACACACTCAAAAAAAGGTACCTGCTCTTACTGTTATTTTATCATTAACACTAAAACTAAAATCAAAATAATTCTGATTTCGTCCAGGGAAAAACAACCCCAAGGAACTTGGTTAGGATTAGGTTGGGTGAGGCAGATGATAGTCTCAGAACTGTTTCCTTTTGTTCCACTGGGGATAGCAACAGAACTAGAATATGTGAGATTAGACCAGCAAAATATTTTCAACTACAAGGGAATTTAGGGTGACAAGAGAGGCTCAAACACTTTCACTGGGAGTTTTCAAGAGACCCCCTGCCTGCCTGAGGTGGGGGAAGGAGGATCATTCACATAGAAGCTACAGGTCCTCTTATAGACATTGTAACAGTGACCCTGGGAGAAACTTTTCCCATTCCATATTATCCATTTCAAGGGCCCACTGCTCACCCTGGGGAGAGGCGTCAGTGAAGACCAGGTCCTCCAGGCCCTGCTCGATGACTTTGATTACAAACTCCGGCCGCCCGTTGTTCTCACCAATAGAACAGCGATAGCAGCAGCGACGATTGTTGGTGCGGAGGCTCCAATAGATGCGCGTGGCCTCGTAGCCCACGGGATAGAGGGCAGTGGCACTATGAAAGTCAGCCATCTGGTGAGGCAGCAGCTGTCCGATGGCGTGGAACACAAGGCCCCCCACACGGAACATGTGCAGCCGTTCTCCCCGCTGAATGATGCTAGCGATTTGCTTCACCTCGTCCCGCTCAATGTAGACCCGCCGGAAGACAGCAAAAGAGCTCAGCTCTTGCTCACAGGGCCCCTTGATCTTATGCATTGGACACAGCATGGTCTTGTCCTTGAAGAACATGCACTTGGCACGGATGGCACAAGCAAAATGGTAGACATTGGGGCAACGCATGCGATTGCAGCTGCTGGTGGCACCAGTTCGCTGGCACAGGGAGCACTTGGTTAGCAGTCCTCGGTGCAGGGCAACCTCCACATTCATCAGTGCCCCGCCCTGGGTCTCATACACCTCCGTGGACCAAAGGGCACAGTTGAGGTGCACCCACAGGTCCAGGTCCAGGTTCAGCAGACGGGCAGGCCCATCAGTGGCCCCGTCACCCTCCTCATGACAGAAACAGCAGCGACGCATGTCTCGCGGTACCTTGTCAGGTCGCAAGGCTGTGCCAAGCTGCTCCATAAACTCTGCCACTTCCCGCTCATCCTCCTGCCGCCCACTGCCCTTCTGGATGGTCAGCAGCAGCCGAAGCCGCTTCCAGCGCACTCCTTTCCATTTCTTGAGGCGAGGAGGACGGGAATCTTCACCTTCTTCAGGGGGCCGGGCACGGGGCTTGGGTCGGGCTGATTCAGGGGATGAGGCCAGTGGCAGAGGTGAGGGGACGGGTGGCTCAGCCAAGGGTTCGGTGGGAAGTTCAACCAAGGGCTCAGTAGGGGGACTGGCAGGAGAAGGTGCCAAGGGGGAAGGGGGCGGGGAGGGTTCTTCAGGAGGTGGGGCCGAGAGCTGTCGCACATCCAGATTGGAGACATTGTAGGTATAGCTGTGCTGAGTGGGTGGCTCTGGGGCGGGGCTCTCCTGTAGGAGGGTGCCCTGTATCATTAGTGCCAGCTCCTCATCTAACTAGCTCCCTCCTTCCCCTCACCCATATGCCACCCTCCCAAAAGGCCTCCACATTCTTTGCCCTAGACAGCCTCTTTTTTCTTTTCTTTTCTTTTTTTTTTGAGACACAGTCTTGCTCTGTTGCCCAGGCTGGATCCAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGGGATTCTCATGCCTCAGCCTTTCGAGTAGCTGGGATTACAGGCACGCACCATCACGCCTGGCTACTGTTTTGTTTTTGTTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTAAAGTGATTCACTCGCCTTGCCTCCCAAAGCACTGGGATTACAGATGTGAGCCACCGCGCCTGGCCGGCAGCCCCTTTTTTCTAACACCCACCCCTTTTTCTCCCCCAGACCTACCTGTTTCAGGAGGCTCAAGATGTCTAGTTGGCTCTTCAGGGTATAGCCAGGCAACACTGCATCAAACTGCTTCAGCCAATCAGGGCCAGTGTCTGGGCTCTTGCCTTCCAGACCCTTTTCCTTCCCACCTGCAGAAAGGAGTGGATCAGAGCCTCCCACCAGAATCACTCCCCTCAAGTCCCAAAGGGCTTCCCTGCCACACTCACCAGGACCCTCAGCTTCCCCCTTCTTTGGCTCAGTGCCTGCCCGGGCGGGGCTCTCTGGGAACAGCACCTCATAGGAGTTGGGGATCTTCATGCTCAGCAGCTCCGCCACTGCCACCATCACGCCATTCAGGTTCTGCCAGGGCCAGGGAAGGGATGGAAGAAACATATCAGCCAAGTGTCTGAGGTGAGCTCTACTACCAGCTGGGTGGGGACAAGGACACCTAGAACCCACTCCCCAGGGTAGTTCTATCCTATGTCACCCAGCTCTTTTCATACACTTCCCTCACAGCAGCCTTTCCCAAACTGCTGTGGGCACTGACGGGAGCTCCACGAAAAGGGAACTACATCAACTACGTTTAGGAAAT
|
AGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATAGTTTTGACAGCTCTCCACCCCGGGCAGCTGTGGGCACAGTTCATACTCACCTTAGCCTGAGTTTTTTTGGGGTTAGGCCAAAGTTCTCAGTGCCCGCCAAGCCCCCCAGCTCCCAGCCCCTTCCTTACTGATTCAGCTATGCGAAGCACGGCATGCACCGTCAGCCCAAAGAGCTCCTCGCCCTTCAGATACTCAGGGAAGAGTCGCAGCATGTCAGCCTCTTTTCTCATGGCAGCCACAGGCTCAATGATGCGATTCCACACGGCTAAGAAGCAGGGAAGAGAGCAGTCCTCAGAGGCAACTTCTGCTCACTGACCTCCAGTCCCTAACCCCAATCCAGAACTGCAGTTTTCTGAGGCCTTCAAGCCTCCCTATCATGAAGTTGTGTTGGTCTTCCAGATCCTCTCTTGGCCTCCTAGTCTCACTCTCTCTTAAGAAGCAGGAGGTTTCCAACCCCAAGGGGTCATCACAGAGCCTTGAGATACAAACCCAGGGCCCAGGAGACCCAGCATAGGCCATGGAAGGTCCCTAGTGAAAGAGCAGGCATGCTTTGGAGTTGGAAAGACTTGGGTTCAGGTTCTAGTACTGGTCATGAGACCTTGAGCCAAATACAGTCACGTGCAGCTTAACAACATTTCATTCAATGAGGAATCATATATACAACAGTGGTCTGGTAAGATTATAATACTGTACTGTATTTTTACTGTATCTTTTCTATGTCTAGATGCACATACTTACCGTATGTTACAACTGCCTACAGTATTCAGTACAGTTACATGCTGTACAGATTTGTAGCCTAGGAGCAATGGGGTATACCGCAGAGCCTAGGTGTGTAGTATGCTATGCCATCTAGGTTTGTGTAGTACACTCTATGAAGTTCACACAATGACAAAATCACCTAACAATGCATTTCTCAGAATGTATCCCTGTCATTTAGCAATGCACGACTGTACTGAAATCTGAGACTCAGTTTCTTTATGAACAAACTGGGCATAATCGTAGTATAATACTTACCTCATAGGGTTGTATGAACAAAATAAACTACACAAATCACTTAGCTTAGTTTGTGGCTCACAGTACACACTCAAAAAAAGGTACCTGCTCTTACTGTTATTTTATCATTAACACTAAAACTAAAATCAAAATAATTCTGATTTCGTCCAGGGAAAAACAACCCCAAGGAACTTGGTTAGGATTAGGTTGGGTGAGGCAGATGATAGTCTCAGAACTGTTTCCTTTTGTTCCACTGGGGATAGCAACAGAACTAGAATATGTGAGATTAGACCAGCAAAATATTTTCAACTACAAGGGAATTTAGGGTGACAAGAGAGGCTCAAACACTTTCACTGGGAGTTTTCAAGAGACCCCCTGCCTGCCTGAGGTGGGGGAAGGAGGATCATTCACATAGAAGCTACAGGTCCTCTTATAGACATTGTAACAGTGACCCTGGGAGAAACTTTTCCCATTCCATATTATCCATTTCAAGGGCCCACTGCTCACCCTGGGGAGAGGCGTCAGTGAAGACCAGGTCCTCCAGGCCCTGCTCGATGACTTTGATTACAAACTCCGGCCGCCCGTTGTTCTCACCAATAGAACAGCGATAGCAGCAGCGACGATTGTTGGTGCGGAGGCTCCAATAGATGCACGTGGCCTCGTAGCCCACGGGATAGAGGGCAGTGGCACTATGAAAGTCAGCCATCTGGTGAGGCAGCAGCTGTCCGATGGCGTGGAACACAAGGCCCCCCACACGGAACATGTGCAGCCGTTCTCCCCGCTGAATGATGCTAGCGATTTGCTTCACCTCGTCCCGCTCAATGTAGACCCGCCGGAAGACAGCAAAAGAGCTCAGCTCTTGCTCACAGGGCCCCTTGATCTTATGCATTGGACACAGCATGGTCTTGTCCTTGAAGAACATGCACTTGGCACGGATGGCACAAGCAAAATGGTAGACATTGGGGCAACGCATGCGATTGCAGCTGCTGGTGGCACCAGTTCGCTGGCACAGGGAGCACTTGGTTAGCAGTCCTCGGTGCAGGGCAACCTCCACATTCATCAGTGCCCCGCCCTGGGTCTCATACACCTCCGTGGACCAAAGGGCACAGTTGAGGTGCACCCACAGGTCCAGGTCCAGGTTCAGCAGACGGGCAGGCCCATCAGTGGCCCCGTCACCCTCCTCATGACAGAAACAGCAGCGACGCATGTCTCGCGGTACCTTGTCAGGTCGCAAGGCTGTGCCAAGCTGCTCCATAAACTCTGCCACTTCCCGCTCATCCTCCTGCCGCCCACTGCCCTTCTGGATGGTCAGCAGCAGCCGAAGCCGCTTCCAGCGCACTCCTTTCCATTTCTTGAGGCGAGGAGGACGGGAATCTTCACCTTCTTCAGGGGGCCGGGCACGGGGCTTGGGTCGGGCTGATTCAGGGGATGAGGCCAGTGGCAGAGGTGAGGGGACGGGTGGCTCAGCCAAGGGTTCGGTGGGAAGTTCAACCAAGGGCTCAGTAGGGGGACTGGCAGGAGAAGGTGCCAAGGGGGAAGGGGGCGGGGAGGGTTCTTCAGGAGGTGGGGCCGAGAGCTGTCGCACATCCAGATTGGAGACATTGTAGGTATAGCTGTGCTGAGTGGGTGGCTCTGGGGCGGGGCTCTCCTGTAGGAGGGTGCCCTGTATCATTAGTGCCAGCTCCTCATCTAACTAGCTCCCTCCTTCCCCTCACCCATATGCCACCCTCCCAAAAGGCCTCCACATTCTTTGCCCTAGACAGCCTCTTTTTTCTTTTCTTTTCTTTTTTTTTTGAGACACAGTCTTGCTCTGTTGCCCAGGCTGGATCCAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGGGATTCTCATGCCTCAGCCTTTCGAGTAGCTGGGATTACAGGCACGCACCATCACGCCTGGCTACTGTTTTGTTTTTGTTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTAAAGTGATTCACTCGCCTTGCCTCCCAAAGCACTGGGATTACAGATGTGAGCCACCGCGCCTGGCCGGCAGCCCCTTTTTTCTAACACCCACCCCTTTTTCTCCCCCAGACCTACCTGTTTCAGGAGGCTCAAGATGTCTAGTTGGCTCTTCAGGGTATAGCCAGGCAACACTGCATCAAACTGCTTCAGCCAATCAGGGCCAGTGTCTGGGCTCTTGCCTTCCAGACCCTTTTCCTTCCCACCTGCAGAAAGGAGTGGATCAGAGCCTCCCACCAGAATCACTCCCCTCAAGTCCCAAAGGGCTTCCCTGCCACACTCACCAGGACCCTCAGCTTCCCCCTTCTTTGGCTCAGTGCCTGCCCGGGCGGGGCTCTCTGGGAACAGCACCTCATAGGAGTTGGGGATCTTCATGCTCAGCAGCTCCGCCACTGCCACCATCACGCCATTCAGGTTCTGCCAGGGCCAGGGAAGGGATGGAAGAAACATATCAGCCAAGTGTCTGAGGTGAGCTCTACTACCAGCTGGGTGGGGACAAGGACACCTAGAACCCACTCCCCAGGGTAGTTCTATCCTATGTCACCCAGCTCTTTTCATACACTTCCCTCACAGCAGCCTTTCCCAAACTGCTGTGGGCACTGACGGGAGCTCCACGAAAAGGGAACTACATCAACTACGTTTAGGAAAT
|
Task1_train_17568
|
An alteration has been detected in KMT2D (lysine methyltransferase 2D) on Chromosome 12. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Kabuki syndrome
|
CATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATAGTTTTGACAGCTCTCCACCCCGGGCAGCTGTGGGCACAGTTCATACTCACCTTAGCCTGAGTTTTTTTGGGGTTAGGCCAAAGTTCTCAGTGCCCGCCAAGCCCCCCAGCTCCCAGCCCCTTCCTTACTGATTCAGCTATGCGAAGCACGGCATGCACCGTCAGCCCAAAGAGCTCCTCGCCCTTCAGATACTCAGGGAAGAGTCGCAGCATGTCAGCCTCTTTTCTCATGGCAGCCACAGGCTCAATGATGCGATTCCACACGGCTAAGAAGCAGGGAAGAGAGCAGTCCTCAGAGGCAACTTCTGCTCACTGACCTCCAGTCCCTAACCCCAATCCAGAACTGCAGTTTTCTGAGGCCTTCAAGCCTCCCTATCATGAAGTTGTGTTGGTCTTCCAGATCCTCTCTTGGCCTCCTAGTCTCACTCTCTCTTAAGAAGCAGGAGGTTTCCAACCCCAAGGGGTCATCACAGAGCCTTGAGATACAAACCCAGGGCCCAGGAGACCCAGCATAGGCCATGGAAGGTCCCTAGTGAAAGAGCAGGCATGCTTTGGAGTTGGAAAGACTTGGGTTCAGGTTCTAGTACTGGTCATGAGACCTTGAGCCAAATACAGTCACGTGCAGCTTAACAACATTTCATTCAATGAGGAATCATATATACAACAGTGGTCTGGTAAGATTATAATACTGTACTGTATTTTTACTGTATCTTTTCTATGTCTAGATGCACATACTTACCGTATGTTACAACTGCCTACAGTATTCAGTACAGTTACATGCTGTACAGATTTGTAGCCTAGGAGCAATGGGGTATACCGCAGAGCCTAGGTGTGTAGTATGCTATGCCATCTAGGTTTGTGTAGTACACTCTATGAAGTTCACACAATGACAAAATCACCTAACAATGCATTTCTCAGAATGTATCCCTGTCATTTAGCAATGCACGACTGTACTGAAATCTGAGACTCAGTTTCTTTATGAACAAACTGGGCATAATCGTAGTATAATACTTACCTCATAGGGTTGTATGAACAAAATAAACTACACAAATCACTTAGCTTAGTTTGTGGCTCACAGTACACACTCAAAAAAAGGTACCTGCTCTTACTGTTATTTTATCATTAACACTAAAACTAAAATCAAAATAATTCTGATTTCGTCCAGGGAAAAACAACCCCAAGGAACTTGGTTAGGATTAGGTTGGGTGAGGCAGATGATAGTCTCAGAACTGTTTCCTTTTGTTCCACTGGGGATAGCAACAGAACTAGAATATGTGAGATTAGACCAGCAAAATATTTTCAACTACAAGGGAATTTAGGGTGACAAGAGAGGCTCAAACACTTTCACTGGGAGTTTTCAAGAGACCCCCTGCCTGCCTGAGGTGGGGGAAGGAGGATCATTCACATAGAAGCTACAGGTCCTCTTATAGACATTGTAACAGTGACCCTGGGAGAAACTTTTCCCATTCCATATTATCCATTTCAAGGGCCCACTGCTCACCCTGGGGAGAGGCGTCAGTGAAGACCAGGTCCTCCAGGCCCTGCTCGATGACTTTGATTACAAACTCCGGCCGCCCGTTGTTCTCACCAATAGAACAGCGATAGCAGCAGCGACGATTGTTGGTGCGGAGGCTCCAATAGATGCGCGTGGCCTCGTAGCCCACGGGATAGAGGGCAGTGGCACTATGAAAGTCAGCCATCTGGTGAGGCAGCAGCTGTCCGATGGCGTGGAACACAAGGCCCCCCACACGGAACATGTGCAGCCGTTCTCCCCGCTGAATGATGCTAGCGATTTGCTTCACCTCGTCCCGCTCAATGTAGACCCGCCGGAAGACAGCAAAAGAGCTCAGCTCTTGCTCACAGGGCCCCTTGATCTTATGCATTGGACACAGCATGGTCTTGTCCTTGAAGAACATGCACTTGGCACGGATGGCACAAGCAAAATGGTAGACATTGGGGCAACGCATGCGATTGCAGCTGCTGGTGGCACCAGTTCGCTGGCACAGGGAGCACTTGGTTAGCAGTCCTCGGTGCAGGGCAACCTCCACATTCATCAGTGCCCCGCCCTGGGTCTCATACACCTCCGTGGACCAAAGGGCACAGTTGAGGTGCACCCACAGGTCCAGGTCCAGGTTCAGCAGACGGGCAGGCCCATCAGTGGCCCCGTCACCCTCCTCATGACAGAAACAGCAGCGACGCATGTCTCGCGGTACCTTGTCAGGTCGCAAGGCTGTGCCAAGCTGCTCCATAAACTCTGCCACTTCCCGCTCATCCTCCTGCCGCCCACTGCCCTTCTGGATGGTCAGCAGCAGCCGAAGCCGCTTCCAGCGCACTCCTTTCCATTTCTTGAGGCGAGGAGGACGGGAATCTTCACCTTCTTCAGGGGGCCGGGCACGGGGCTTGGGTCGGGCTGATTCAGGGGATGAGGCCAGTGGCAGAGGTGAGGGGACGGGTGGCTCAGCCAAGGGTTCGGTGGGAAGTTCAACCAAGGGCTCAGTAGGGGGACTGGCAGGAGAAGGTGCCAAGGGGGAAGGGGGCGGGGAGGGTTCTTCAGGAGGTGGGGCCGAGAGCTGTCGCACATCCAGATTGGAGACATTGTAGGTATAGCTGTGCTGAGTGGGTGGCTCTGGGGCGGGGCTCTCCTGTAGGAGGGTGCCCTGTATCATTAGTGCCAGCTCCTCATCTAACTAGCTCCCTCCTTCCCCTCACCCATATGCCACCCTCCCAAAAGGCCTCCACATTCTTTGCCCTAGACAGCCTCTTTTTTCTTTTCTTTTCTTTTTTTTTTGAGACACAGTCTTGCTCTGTTGCCCAGGCTGGATCCAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGGGATTCTCATGCCTCAGCCTTTCGAGTAGCTGGGATTACAGGCACGCACCATCACGCCTGGCTACTGTTTTGTTTTTGTTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTAAAGTGATTCACTCGCCTTGCCTCCCAAAGCACTGGGATTACAGATGTGAGCCACCGCGCCTGGCCGGCAGCCCCTTTTTTCTAACACCCACCCCTTTTTCTCCCCCAGACCTACCTGTTTCAGGAGGCTCAAGATGTCTAGTTGGCTCTTCAGGGTATAGCCAGGCAACACTGCATCAAACTGCTTCAGCCAATCAGGGCCAGTGTCTGGGCTCTTGCCTTCCAGACCCTTTTCCTTCCCACCTGCAGAAAGGAGTGGATCAGAGCCTCCCACCAGAATCACTCCCCTCAAGTCCCAAAGGGCTTCCCTGCCACACTCACCAGGACCCTCAGCTTCCCCCTTCTTTGGCTCAGTGCCTGCCCGGGCGGGGCTCTCTGGGAACAGCACCTCATAGGAGTTGGGGATCTTCATGCTCAGCAGCTCCGCCACTGCCACCATCACGCCATTCAGGTTCTGCCAGGGCCAGGGAAGGGATGGAAGAAACATATCAGCCAAGTGTCTGAGGTGAGCTCTACTACCAGCTGGGTGGGGACAAGGACACCTAGAACCCACTCCCCAGGGTAGTTCTATCCTATGTCACCCAGCTCTTTTCATACACTTCCCTCACAGCAGCCTTTCCCAAACTGCTGTGGGCACTGACGGGAGCTCCACGAAAAGGGAACTACATCAACTACGTTTAGGAAATGATGCATGCTCTATCCATGACTTGGAGGCTCATGATACACGTTAGCAAATTAAAAGGACCTGAGGACTCTTGTAGTAAAGAAACCCATATTGTCATTTTAACTGT
|
CATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATAGTTTTGACAGCTCTCCACCCCGGGCAGCTGTGGGCACAGTTCATACTCACCTTAGCCTGAGTTTTTTTGGGGTTAGGCCAAAGTTCTCAGTGCCCGCCAAGCCCCCCAGCTCCCAGCCCCTTCCTTACTGATTCAGCTATGCGAAGCACGGCATGCACCGTCAGCCCAAAGAGCTCCTCGCCCTTCAGATACTCAGGGAAGAGTCGCAGCATGTCAGCCTCTTTTCTCATGGCAGCCACAGGCTCAATGATGCGATTCCACACGGCTAAGAAGCAGGGAAGAGAGCAGTCCTCAGAGGCAACTTCTGCTCACTGACCTCCAGTCCCTAACCCCAATCCAGAACTGCAGTTTTCTGAGGCCTTCAAGCCTCCCTATCATGAAGTTGTGTTGGTCTTCCAGATCCTCTCTTGGCCTCCTAGTCTCACTCTCTCTTAAGAAGCAGGAGGTTTCCAACCCCAAGGGGTCATCACAGAGCCTTGAGATACAAACCCAGGGCCCAGGAGACCCAGCATAGGCCATGGAAGGTCCCTAGTGAAAGAGCAGGCATGCTTTGGAGTTGGAAAGACTTGGGTTCAGGTTCTAGTACTGGTCATGAGACCTTGAGCCAAATACAGTCACGTGCAGCTTAACAACATTTCATTCAATGAGGAATCATATATACAACAGTGGTCTGGTAAGATTATAATACTGTACTGTATTTTTACTGTATCTTTTCTATGTCTAGATGCACATACTTACCGTATGTTACAACTGCCTACAGTATTCAGTACAGTTACATGCTGTACAGATTTGTAGCCTAGGAGCAATGGGGTATACCGCAGAGCCTAGGTGTGTAGTATGCTATGCCATCTAGGTTTGTGTAGTACACTCTATGAAGTTCACACAATGACAAAATCACCTAACAATGCATTTCTCAGAATGTATCCCTGTCATTTAGCAATGCACGACTGTACTGAAATCTGAGACTCAGTTTCTTTATGAACAAACTGGGCATAATCGTAGTATAATACTTACCTCATAGGGTTGTATGAACAAAATAAACTACACAAATCACTTAGCTTAGTTTGTGGCTCACAGTACACACTCAAAAAAAGGTACCTGCTCTTACTGTTATTTTATCATTAACACTAAAACTAAAATCAAAATAATTCTGATTTCGTCCAGGGAAAAACAACCCCAAGGAACTTGGTTAGGATTAGGTTGGGTGAGGCAGATGATAGTCTCAGAACTGTTTCCTTTTGTTCCACTGGGGATAGCAACAGAACTAGAATATGTGAGATTAGACCAGCAAAATATTTTCAACTACAAGGGAATTTAGGGTGACAAGAGAGGCTCAAACACTTTCACTGGGAGTTTTCAAGAGACCCCCTGCCTGCCTGAGGTGGGGGAAGGAGGATCATTCACATAGAAGCTACAGGTCCTCTTATAGACATTGTAACAGTGACCCTGGGAGAAACTTTTCCCATTCCATATTATCCATTTCAAGGGCCCACTGCTCACCCTGGGGAGAGGCGTCAGTGAAGACCAGGTCCTCCAGGCCCTGCTCGATGACTTTGATTACAAACTCCGGCCGCCCGTTGTTCTCACCAATAGAACAGCGATAGCAGCAGCGACGATTGTTGGTGCGGAGGCTCCAATAGATGCGCGTGGCCTCGTAGCCCACGGGATAGAGGGCAGTGGCACTATGAAAGTCAGCCATCTGGTGAGGCAGCAGCTGTCCGATGGCGTGGAACACAAGGCCCCCCACACAGAACATGTGCAGCCGTTCTCCCCGCTGAATGATGCTAGCGATTTGCTTCACCTCGTCCCGCTCAATGTAGACCCGCCGGAAGACAGCAAAAGAGCTCAGCTCTTGCTCACAGGGCCCCTTGATCTTATGCATTGGACACAGCATGGTCTTGTCCTTGAAGAACATGCACTTGGCACGGATGGCACAAGCAAAATGGTAGACATTGGGGCAACGCATGCGATTGCAGCTGCTGGTGGCACCAGTTCGCTGGCACAGGGAGCACTTGGTTAGCAGTCCTCGGTGCAGGGCAACCTCCACATTCATCAGTGCCCCGCCCTGGGTCTCATACACCTCCGTGGACCAAAGGGCACAGTTGAGGTGCACCCACAGGTCCAGGTCCAGGTTCAGCAGACGGGCAGGCCCATCAGTGGCCCCGTCACCCTCCTCATGACAGAAACAGCAGCGACGCATGTCTCGCGGTACCTTGTCAGGTCGCAAGGCTGTGCCAAGCTGCTCCATAAACTCTGCCACTTCCCGCTCATCCTCCTGCCGCCCACTGCCCTTCTGGATGGTCAGCAGCAGCCGAAGCCGCTTCCAGCGCACTCCTTTCCATTTCTTGAGGCGAGGAGGACGGGAATCTTCACCTTCTTCAGGGGGCCGGGCACGGGGCTTGGGTCGGGCTGATTCAGGGGATGAGGCCAGTGGCAGAGGTGAGGGGACGGGTGGCTCAGCCAAGGGTTCGGTGGGAAGTTCAACCAAGGGCTCAGTAGGGGGACTGGCAGGAGAAGGTGCCAAGGGGGAAGGGGGCGGGGAGGGTTCTTCAGGAGGTGGGGCCGAGAGCTGTCGCACATCCAGATTGGAGACATTGTAGGTATAGCTGTGCTGAGTGGGTGGCTCTGGGGCGGGGCTCTCCTGTAGGAGGGTGCCCTGTATCATTAGTGCCAGCTCCTCATCTAACTAGCTCCCTCCTTCCCCTCACCCATATGCCACCCTCCCAAAAGGCCTCCACATTCTTTGCCCTAGACAGCCTCTTTTTTCTTTTCTTTTCTTTTTTTTTTGAGACACAGTCTTGCTCTGTTGCCCAGGCTGGATCCAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGGGATTCTCATGCCTCAGCCTTTCGAGTAGCTGGGATTACAGGCACGCACCATCACGCCTGGCTACTGTTTTGTTTTTGTTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTAAAGTGATTCACTCGCCTTGCCTCCCAAAGCACTGGGATTACAGATGTGAGCCACCGCGCCTGGCCGGCAGCCCCTTTTTTCTAACACCCACCCCTTTTTCTCCCCCAGACCTACCTGTTTCAGGAGGCTCAAGATGTCTAGTTGGCTCTTCAGGGTATAGCCAGGCAACACTGCATCAAACTGCTTCAGCCAATCAGGGCCAGTGTCTGGGCTCTTGCCTTCCAGACCCTTTTCCTTCCCACCTGCAGAAAGGAGTGGATCAGAGCCTCCCACCAGAATCACTCCCCTCAAGTCCCAAAGGGCTTCCCTGCCACACTCACCAGGACCCTCAGCTTCCCCCTTCTTTGGCTCAGTGCCTGCCCGGGCGGGGCTCTCTGGGAACAGCACCTCATAGGAGTTGGGGATCTTCATGCTCAGCAGCTCCGCCACTGCCACCATCACGCCATTCAGGTTCTGCCAGGGCCAGGGAAGGGATGGAAGAAACATATCAGCCAAGTGTCTGAGGTGAGCTCTACTACCAGCTGGGTGGGGACAAGGACACCTAGAACCCACTCCCCAGGGTAGTTCTATCCTATGTCACCCAGCTCTTTTCATACACTTCCCTCACAGCAGCCTTTCCCAAACTGCTGTGGGCACTGACGGGAGCTCCACGAAAAGGGAACTACATCAACTACGTTTAGGAAATGATGCATGCTCTATCCATGACTTGGAGGCTCATGATACACGTTAGCAAATTAAAAGGACCTGAGGACTCTTGTAGTAAAGAAACCCATATTGTCATTTTAACTGT
|
Task1_train_17569
|
A change on Chromosome 12 affects gene KMT2D (lysine methyltransferase 2D). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
|
Pathogenic; Inborn genetic diseases
|
CATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATAGTTTTGACAGCTCTCCACCCCGGGCAGCTGTGGGCACAGTTCATACTCACCTTAGCCTGAGTTTTTTTGGGGTTAGGCCAAAGTTCTCAGTGCCCGCCAAGCCCCCCAGCTCCCAGCCCCTTCCTTACTGATTCAGCTATGCGAAGCACGGCATGCACCGTCAGCCCAAAGAGCTCCTCGCCCTTCAGATACTCAGGGAAGAGTCGCAGCATGTCAGCCTCTTTTCTCATGGCAGCCACAGGCTCAATGATGCGATTCCACACGGCTAAGAAGCAGGGAAGAGAGCAGTCCTCAGAGGCAACTTCTGCTCACTGACCTCCAGTCCCTAACCCCAATCCAGAACTGCAGTTTTCTGAGGCCTTCAAGCCTCCCTATCATGAAGTTGTGTTGGTCTTCCAGATCCTCTCTTGGCCTCCTAGTCTCACTCTCTCTTAAGAAGCAGGAGGTTTCCAACCCCAAGGGGTCATCACAGAGCCTTGAGATACAAACCCAGGGCCCAGGAGACCCAGCATAGGCCATGGAAGGTCCCTAGTGAAAGAGCAGGCATGCTTTGGAGTTGGAAAGACTTGGGTTCAGGTTCTAGTACTGGTCATGAGACCTTGAGCCAAATACAGTCACGTGCAGCTTAACAACATTTCATTCAATGAGGAATCATATATACAACAGTGGTCTGGTAAGATTATAATACTGTACTGTATTTTTACTGTATCTTTTCTATGTCTAGATGCACATACTTACCGTATGTTACAACTGCCTACAGTATTCAGTACAGTTACATGCTGTACAGATTTGTAGCCTAGGAGCAATGGGGTATACCGCAGAGCCTAGGTGTGTAGTATGCTATGCCATCTAGGTTTGTGTAGTACACTCTATGAAGTTCACACAATGACAAAATCACCTAACAATGCATTTCTCAGAATGTATCCCTGTCATTTAGCAATGCACGACTGTACTGAAATCTGAGACTCAGTTTCTTTATGAACAAACTGGGCATAATCGTAGTATAATACTTACCTCATAGGGTTGTATGAACAAAATAAACTACACAAATCACTTAGCTTAGTTTGTGGCTCACAGTACACACTCAAAAAAAGGTACCTGCTCTTACTGTTATTTTATCATTAACACTAAAACTAAAATCAAAATAATTCTGATTTCGTCCAGGGAAAAACAACCCCAAGGAACTTGGTTAGGATTAGGTTGGGTGAGGCAGATGATAGTCTCAGAACTGTTTCCTTTTGTTCCACTGGGGATAGCAACAGAACTAGAATATGTGAGATTAGACCAGCAAAATATTTTCAACTACAAGGGAATTTAGGGTGACAAGAGAGGCTCAAACACTTTCACTGGGAGTTTTCAAGAGACCCCCTGCCTGCCTGAGGTGGGGGAAGGAGGATCATTCACATAGAAGCTACAGGTCCTCTTATAGACATTGTAACAGTGACCCTGGGAGAAACTTTTCCCATTCCATATTATCCATTTCAAGGGCCCACTGCTCACCCTGGGGAGAGGCGTCAGTGAAGACCAGGTCCTCCAGGCCCTGCTCGATGACTTTGATTACAAACTCCGGCCGCCCGTTGTTCTCACCAATAGAACAGCGATAGCAGCAGCGACGATTGTTGGTGCGGAGGCTCCAATAGATGCGCGTGGCCTCGTAGCCCACGGGATAGAGGGCAGTGGCACTATGAAAGTCAGCCATCTGGTGAGGCAGCAGCTGTCCGATGGCGTGGAACACAAGGCCCCCCACACGGAACATGTGCAGCCGTTCTCCCCGCTGAATGATGCTAGCGATTTGCTTCACCTCGTCCCGCTCAATGTAGACCCGCCGGAAGACAGCAAAAGAGCTCAGCTCTTGCTCACAGGGCCCCTTGATCTTATGCATTGGACACAGCATGGTCTTGTCCTTGAAGAACATGCACTTGGCACGGATGGCACAAGCAAAATGGTAGACATTGGGGCAACGCATGCGATTGCAGCTGCTGGTGGCACCAGTTCGCTGGCACAGGGAGCACTTGGTTAGCAGTCCTCGGTGCAGGGCAACCTCCACATTCATCAGTGCCCCGCCCTGGGTCTCATACACCTCCGTGGACCAAAGGGCACAGTTGAGGTGCACCCACAGGTCCAGGTCCAGGTTCAGCAGACGGGCAGGCCCATCAGTGGCCCCGTCACCCTCCTCATGACAGAAACAGCAGCGACGCATGTCTCGCGGTACCTTGTCAGGTCGCAAGGCTGTGCCAAGCTGCTCCATAAACTCTGCCACTTCCCGCTCATCCTCCTGCCGCCCACTGCCCTTCTGGATGGTCAGCAGCAGCCGAAGCCGCTTCCAGCGCACTCCTTTCCATTTCTTGAGGCGAGGAGGACGGGAATCTTCACCTTCTTCAGGGGGCCGGGCACGGGGCTTGGGTCGGGCTGATTCAGGGGATGAGGCCAGTGGCAGAGGTGAGGGGACGGGTGGCTCAGCCAAGGGTTCGGTGGGAAGTTCAACCAAGGGCTCAGTAGGGGGACTGGCAGGAGAAGGTGCCAAGGGGGAAGGGGGCGGGGAGGGTTCTTCAGGAGGTGGGGCCGAGAGCTGTCGCACATCCAGATTGGAGACATTGTAGGTATAGCTGTGCTGAGTGGGTGGCTCTGGGGCGGGGCTCTCCTGTAGGAGGGTGCCCTGTATCATTAGTGCCAGCTCCTCATCTAACTAGCTCCCTCCTTCCCCTCACCCATATGCCACCCTCCCAAAAGGCCTCCACATTCTTTGCCCTAGACAGCCTCTTTTTTCTTTTCTTTTCTTTTTTTTTTGAGACACAGTCTTGCTCTGTTGCCCAGGCTGGATCCAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGGGATTCTCATGCCTCAGCCTTTCGAGTAGCTGGGATTACAGGCACGCACCATCACGCCTGGCTACTGTTTTGTTTTTGTTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTAAAGTGATTCACTCGCCTTGCCTCCCAAAGCACTGGGATTACAGATGTGAGCCACCGCGCCTGGCCGGCAGCCCCTTTTTTCTAACACCCACCCCTTTTTCTCCCCCAGACCTACCTGTTTCAGGAGGCTCAAGATGTCTAGTTGGCTCTTCAGGGTATAGCCAGGCAACACTGCATCAAACTGCTTCAGCCAATCAGGGCCAGTGTCTGGGCTCTTGCCTTCCAGACCCTTTTCCTTCCCACCTGCAGAAAGGAGTGGATCAGAGCCTCCCACCAGAATCACTCCCCTCAAGTCCCAAAGGGCTTCCCTGCCACACTCACCAGGACCCTCAGCTTCCCCCTTCTTTGGCTCAGTGCCTGCCCGGGCGGGGCTCTCTGGGAACAGCACCTCATAGGAGTTGGGGATCTTCATGCTCAGCAGCTCCGCCACTGCCACCATCACGCCATTCAGGTTCTGCCAGGGCCAGGGAAGGGATGGAAGAAACATATCAGCCAAGTGTCTGAGGTGAGCTCTACTACCAGCTGGGTGGGGACAAGGACACCTAGAACCCACTCCCCAGGGTAGTTCTATCCTATGTCACCCAGCTCTTTTCATACACTTCCCTCACAGCAGCCTTTCCCAAACTGCTGTGGGCACTGACGGGAGCTCCACGAAAAGGGAACTACATCAACTACGTTTAGGAAATGATGCATGCTCTATCCATGACTTGGAGGCTCATGATACACGTTAGCAAATTAAAAGGACCTGAGGACTCTTGTAGTAAAGAAACCCATATTGTCATTTTAACTGT
|
CATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATAGTTTTGACAGCTCTCCACCCCGGGCAGCTGTGGGCACAGTTCATACTCACCTTAGCCTGAGTTTTTTTGGGGTTAGGCCAAAGTTCTCAGTGCCCGCCAAGCCCCCCAGCTCCCAGCCCCTTCCTTACTGATTCAGCTATGCGAAGCACGGCATGCACCGTCAGCCCAAAGAGCTCCTCGCCCTTCAGATACTCAGGGAAGAGTCGCAGCATGTCAGCCTCTTTTCTCATGGCAGCCACAGGCTCAATGATGCGATTCCACACGGCTAAGAAGCAGGGAAGAGAGCAGTCCTCAGAGGCAACTTCTGCTCACTGACCTCCAGTCCCTAACCCCAATCCAGAACTGCAGTTTTCTGAGGCCTTCAAGCCTCCCTATCATGAAGTTGTGTTGGTCTTCCAGATCCTCTCTTGGCCTCCTAGTCTCACTCTCTCTTAAGAAGCAGGAGGTTTCCAACCCCAAGGGGTCATCACAGAGCCTTGAGATACAAACCCAGGGCCCAGGAGACCCAGCATAGGCCATGGAAGGTCCCTAGTGAAAGAGCAGGCATGCTTTGGAGTTGGAAAGACTTGGGTTCAGGTTCTAGTACTGGTCATGAGACCTTGAGCCAAATACAGTCACGTGCAGCTTAACAACATTTCATTCAATGAGGAATCATATATACAACAGTGGTCTGGTAAGATTATAATACTGTACTGTATTTTTACTGTATCTTTTCTATGTCTAGATGCACATACTTACCGTATGTTACAACTGCCTACAGTATTCAGTACAGTTACATGCTGTACAGATTTGTAGCCTAGGAGCAATGGGGTATACCGCAGAGCCTAGGTGTGTAGTATGCTATGCCATCTAGGTTTGTGTAGTACACTCTATGAAGTTCACACAATGACAAAATCACCTAACAATGCATTTCTCAGAATGTATCCCTGTCATTTAGCAATGCACGACTGTACTGAAATCTGAGACTCAGTTTCTTTATGAACAAACTGGGCATAATCGTAGTATAATACTTACCTCATAGGGTTGTATGAACAAAATAAACTACACAAATCACTTAGCTTAGTTTGTGGCTCACAGTACACACTCAAAAAAAGGTACCTGCTCTTACTGTTATTTTATCATTAACACTAAAACTAAAATCAAAATAATTCTGATTTCGTCCAGGGAAAAACAACCCCAAGGAACTTGGTTAGGATTAGGTTGGGTGAGGCAGATGATAGTCTCAGAACTGTTTCCTTTTGTTCCACTGGGGATAGCAACAGAACTAGAATATGTGAGATTAGACCAGCAAAATATTTTCAACTACAAGGGAATTTAGGGTGACAAGAGAGGCTCAAACACTTTCACTGGGAGTTTTCAAGAGACCCCCTGCCTGCCTGAGGTGGGGGAAGGAGGATCATTCACATAGAAGCTACAGGTCCTCTTATAGACATTGTAACAGTGACCCTGGGAGAAACTTTTCCCATTCCATATTATCCATTTCAAGGGCCCACTGCTCACCCTGGGGAGAGGCGTCAGTGAAGACCAGGTCCTCCAGGCCCTGCTCGATGACTTTGATTACAAACTCCGGCCGCCCGTTGTTCTCACCAATAGAACAGCGATAGCAGCAGCGACGATTGTTGGTGCGGAGGCTCCAATAGATGCGCGTGGCCTCGTAGCCCACGGGATAGAGGGCAGTGGCACTATGAAAGTCAGCCATCTGGTGAGGCAGCAGCTGTCCGATGGCGTGGAACACAAGGCCCCCCACACAGAACATGTGCAGCCGTTCTCCCCGCTGAATGATGCTAGCGATTTGCTTCACCTCGTCCCGCTCAATGTAGACCCGCCGGAAGACAGCAAAAGAGCTCAGCTCTTGCTCACAGGGCCCCTTGATCTTATGCATTGGACACAGCATGGTCTTGTCCTTGAAGAACATGCACTTGGCACGGATGGCACAAGCAAAATGGTAGACATTGGGGCAACGCATGCGATTGCAGCTGCTGGTGGCACCAGTTCGCTGGCACAGGGAGCACTTGGTTAGCAGTCCTCGGTGCAGGGCAACCTCCACATTCATCAGTGCCCCGCCCTGGGTCTCATACACCTCCGTGGACCAAAGGGCACAGTTGAGGTGCACCCACAGGTCCAGGTCCAGGTTCAGCAGACGGGCAGGCCCATCAGTGGCCCCGTCACCCTCCTCATGACAGAAACAGCAGCGACGCATGTCTCGCGGTACCTTGTCAGGTCGCAAGGCTGTGCCAAGCTGCTCCATAAACTCTGCCACTTCCCGCTCATCCTCCTGCCGCCCACTGCCCTTCTGGATGGTCAGCAGCAGCCGAAGCCGCTTCCAGCGCACTCCTTTCCATTTCTTGAGGCGAGGAGGACGGGAATCTTCACCTTCTTCAGGGGGCCGGGCACGGGGCTTGGGTCGGGCTGATTCAGGGGATGAGGCCAGTGGCAGAGGTGAGGGGACGGGTGGCTCAGCCAAGGGTTCGGTGGGAAGTTCAACCAAGGGCTCAGTAGGGGGACTGGCAGGAGAAGGTGCCAAGGGGGAAGGGGGCGGGGAGGGTTCTTCAGGAGGTGGGGCCGAGAGCTGTCGCACATCCAGATTGGAGACATTGTAGGTATAGCTGTGCTGAGTGGGTGGCTCTGGGGCGGGGCTCTCCTGTAGGAGGGTGCCCTGTATCATTAGTGCCAGCTCCTCATCTAACTAGCTCCCTCCTTCCCCTCACCCATATGCCACCCTCCCAAAAGGCCTCCACATTCTTTGCCCTAGACAGCCTCTTTTTTCTTTTCTTTTCTTTTTTTTTTGAGACACAGTCTTGCTCTGTTGCCCAGGCTGGATCCAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGGGATTCTCATGCCTCAGCCTTTCGAGTAGCTGGGATTACAGGCACGCACCATCACGCCTGGCTACTGTTTTGTTTTTGTTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTAAAGTGATTCACTCGCCTTGCCTCCCAAAGCACTGGGATTACAGATGTGAGCCACCGCGCCTGGCCGGCAGCCCCTTTTTTCTAACACCCACCCCTTTTTCTCCCCCAGACCTACCTGTTTCAGGAGGCTCAAGATGTCTAGTTGGCTCTTCAGGGTATAGCCAGGCAACACTGCATCAAACTGCTTCAGCCAATCAGGGCCAGTGTCTGGGCTCTTGCCTTCCAGACCCTTTTCCTTCCCACCTGCAGAAAGGAGTGGATCAGAGCCTCCCACCAGAATCACTCCCCTCAAGTCCCAAAGGGCTTCCCTGCCACACTCACCAGGACCCTCAGCTTCCCCCTTCTTTGGCTCAGTGCCTGCCCGGGCGGGGCTCTCTGGGAACAGCACCTCATAGGAGTTGGGGATCTTCATGCTCAGCAGCTCCGCCACTGCCACCATCACGCCATTCAGGTTCTGCCAGGGCCAGGGAAGGGATGGAAGAAACATATCAGCCAAGTGTCTGAGGTGAGCTCTACTACCAGCTGGGTGGGGACAAGGACACCTAGAACCCACTCCCCAGGGTAGTTCTATCCTATGTCACCCAGCTCTTTTCATACACTTCCCTCACAGCAGCCTTTCCCAAACTGCTGTGGGCACTGACGGGAGCTCCACGAAAAGGGAACTACATCAACTACGTTTAGGAAATGATGCATGCTCTATCCATGACTTGGAGGCTCATGATACACGTTAGCAAATTAAAAGGACCTGAGGACTCTTGTAGTAAAGAAACCCATATTGTCATTTTAACTGT
|
Task1_train_17570
|
A change on Chromosome 12 affects gene KMT2D (lysine methyltransferase 2D). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
|
Pathogenic; Kabuki syndrome
|
CAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATAGTTTTGACAGCTCTCCACCCCGGGCAGCTGTGGGCACAGTTCATACTCACCTTAGCCTGAGTTTTTTTGGGGTTAGGCCAAAGTTCTCAGTGCCCGCCAAGCCCCCCAGCTCCCAGCCCCTTCCTTACTGATTCAGCTATGCGAAGCACGGCATGCACCGTCAGCCCAAAGAGCTCCTCGCCCTTCAGATACTCAGGGAAGAGTCGCAGCATGTCAGCCTCTTTTCTCATGGCAGCCACAGGCTCAATGATGCGATTCCACACGGCTAAGAAGCAGGGAAGAGAGCAGTCCTCAGAGGCAACTTCTGCTCACTGACCTCCAGTCCCTAACCCCAATCCAGAACTGCAGTTTTCTGAGGCCTTCAAGCCTCCCTATCATGAAGTTGTGTTGGTCTTCCAGATCCTCTCTTGGCCTCCTAGTCTCACTCTCTCTTAAGAAGCAGGAGGTTTCCAACCCCAAGGGGTCATCACAGAGCCTTGAGATACAAACCCAGGGCCCAGGAGACCCAGCATAGGCCATGGAAGGTCCCTAGTGAAAGAGCAGGCATGCTTTGGAGTTGGAAAGACTTGGGTTCAGGTTCTAGTACTGGTCATGAGACCTTGAGCCAAATACAGTCACGTGCAGCTTAACAACATTTCATTCAATGAGGAATCATATATACAACAGTGGTCTGGTAAGATTATAATACTGTACTGTATTTTTACTGTATCTTTTCTATGTCTAGATGCACATACTTACCGTATGTTACAACTGCCTACAGTATTCAGTACAGTTACATGCTGTACAGATTTGTAGCCTAGGAGCAATGGGGTATACCGCAGAGCCTAGGTGTGTAGTATGCTATGCCATCTAGGTTTGTGTAGTACACTCTATGAAGTTCACACAATGACAAAATCACCTAACAATGCATTTCTCAGAATGTATCCCTGTCATTTAGCAATGCACGACTGTACTGAAATCTGAGACTCAGTTTCTTTATGAACAAACTGGGCATAATCGTAGTATAATACTTACCTCATAGGGTTGTATGAACAAAATAAACTACACAAATCACTTAGCTTAGTTTGTGGCTCACAGTACACACTCAAAAAAAGGTACCTGCTCTTACTGTTATTTTATCATTAACACTAAAACTAAAATCAAAATAATTCTGATTTCGTCCAGGGAAAAACAACCCCAAGGAACTTGGTTAGGATTAGGTTGGGTGAGGCAGATGATAGTCTCAGAACTGTTTCCTTTTGTTCCACTGGGGATAGCAACAGAACTAGAATATGTGAGATTAGACCAGCAAAATATTTTCAACTACAAGGGAATTTAGGGTGACAAGAGAGGCTCAAACACTTTCACTGGGAGTTTTCAAGAGACCCCCTGCCTGCCTGAGGTGGGGGAAGGAGGATCATTCACATAGAAGCTACAGGTCCTCTTATAGACATTGTAACAGTGACCCTGGGAGAAACTTTTCCCATTCCATATTATCCATTTCAAGGGCCCACTGCTCACCCTGGGGAGAGGCGTCAGTGAAGACCAGGTCCTCCAGGCCCTGCTCGATGACTTTGATTACAAACTCCGGCCGCCCGTTGTTCTCACCAATAGAACAGCGATAGCAGCAGCGACGATTGTTGGTGCGGAGGCTCCAATAGATGCGCGTGGCCTCGTAGCCCACGGGATAGAGGGCAGTGGCACTATGAAAGTCAGCCATCTGGTGAGGCAGCAGCTGTCCGATGGCGTGGAACACAAGGCCCCCCACACGGAACATGTGCAGCCGTTCTCCCCGCTGAATGATGCTAGCGATTTGCTTCACCTCGTCCCGCTCAATGTAGACCCGCCGGAAGACAGCAAAAGAGCTCAGCTCTTGCTCACAGGGCCCCTTGATCTTATGCATTGGACACAGCATGGTCTTGTCCTTGAAGAACATGCACTTGGCACGGATGGCACAAGCAAAATGGTAGACATTGGGGCAACGCATGCGATTGCAGCTGCTGGTGGCACCAGTTCGCTGGCACAGGGAGCACTTGGTTAGCAGTCCTCGGTGCAGGGCAACCTCCACATTCATCAGTGCCCCGCCCTGGGTCTCATACACCTCCGTGGACCAAAGGGCACAGTTGAGGTGCACCCACAGGTCCAGGTCCAGGTTCAGCAGACGGGCAGGCCCATCAGTGGCCCCGTCACCCTCCTCATGACAGAAACAGCAGCGACGCATGTCTCGCGGTACCTTGTCAGGTCGCAAGGCTGTGCCAAGCTGCTCCATAAACTCTGCCACTTCCCGCTCATCCTCCTGCCGCCCACTGCCCTTCTGGATGGTCAGCAGCAGCCGAAGCCGCTTCCAGCGCACTCCTTTCCATTTCTTGAGGCGAGGAGGACGGGAATCTTCACCTTCTTCAGGGGGCCGGGCACGGGGCTTGGGTCGGGCTGATTCAGGGGATGAGGCCAGTGGCAGAGGTGAGGGGACGGGTGGCTCAGCCAAGGGTTCGGTGGGAAGTTCAACCAAGGGCTCAGTAGGGGGACTGGCAGGAGAAGGTGCCAAGGGGGAAGGGGGCGGGGAGGGTTCTTCAGGAGGTGGGGCCGAGAGCTGTCGCACATCCAGATTGGAGACATTGTAGGTATAGCTGTGCTGAGTGGGTGGCTCTGGGGCGGGGCTCTCCTGTAGGAGGGTGCCCTGTATCATTAGTGCCAGCTCCTCATCTAACTAGCTCCCTCCTTCCCCTCACCCATATGCCACCCTCCCAAAAGGCCTCCACATTCTTTGCCCTAGACAGCCTCTTTTTTCTTTTCTTTTCTTTTTTTTTTGAGACACAGTCTTGCTCTGTTGCCCAGGCTGGATCCAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGGGATTCTCATGCCTCAGCCTTTCGAGTAGCTGGGATTACAGGCACGCACCATCACGCCTGGCTACTGTTTTGTTTTTGTTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTAAAGTGATTCACTCGCCTTGCCTCCCAAAGCACTGGGATTACAGATGTGAGCCACCGCGCCTGGCCGGCAGCCCCTTTTTTCTAACACCCACCCCTTTTTCTCCCCCAGACCTACCTGTTTCAGGAGGCTCAAGATGTCTAGTTGGCTCTTCAGGGTATAGCCAGGCAACACTGCATCAAACTGCTTCAGCCAATCAGGGCCAGTGTCTGGGCTCTTGCCTTCCAGACCCTTTTCCTTCCCACCTGCAGAAAGGAGTGGATCAGAGCCTCCCACCAGAATCACTCCCCTCAAGTCCCAAAGGGCTTCCCTGCCACACTCACCAGGACCCTCAGCTTCCCCCTTCTTTGGCTCAGTGCCTGCCCGGGCGGGGCTCTCTGGGAACAGCACCTCATAGGAGTTGGGGATCTTCATGCTCAGCAGCTCCGCCACTGCCACCATCACGCCATTCAGGTTCTGCCAGGGCCAGGGAAGGGATGGAAGAAACATATCAGCCAAGTGTCTGAGGTGAGCTCTACTACCAGCTGGGTGGGGACAAGGACACCTAGAACCCACTCCCCAGGGTAGTTCTATCCTATGTCACCCAGCTCTTTTCATACACTTCCCTCACAGCAGCCTTTCCCAAACTGCTGTGGGCACTGACGGGAGCTCCACGAAAAGGGAACTACATCAACTACGTTTAGGAAATGATGCATGCTCTATCCATGACTTGGAGGCTCATGATACACGTTAGCAAATTAAAAGGACCTGAGGACTCTTGTAGTAAAGAAACCCATATTGTCATTTTAACTGTGTTTTCCAACTTTCTTTGACCACAAAAGCCCGTTAATATTTTCAAAACAGCTGACAGAGTCCCACCAAACATGACTGGGGCAATGCTGTCATGTAGTACCTGTGTCATTACACACACAGGTGCTCCTTAGTTGTTGACTTGTCTGTCTTTACCATGGGACTACGAGCCCCGTGAGGGCAGGAACCA
|
CAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATAGTTTTGACAGCTCTCCACCCCGGGCAGCTGTGGGCACAGTTCATACTCACCTTAGCCTGAGTTTTTTTGGGGTTAGGCCAAAGTTCTCAGTGCCCGCCAAGCCCCCCAGCTCCCAGCCCCTTCCTTACTGATTCAGCTATGCGAAGCACGGCATGCACCGTCAGCCCAAAGAGCTCCTCGCCCTTCAGATACTCAGGGAAGAGTCGCAGCATGTCAGCCTCTTTTCTCATGGCAGCCACAGGCTCAATGATGCGATTCCACACGGCTAAGAAGCAGGGAAGAGAGCAGTCCTCAGAGGCAACTTCTGCTCACTGACCTCCAGTCCCTAACCCCAATCCAGAACTGCAGTTTTCTGAGGCCTTCAAGCCTCCCTATCATGAAGTTGTGTTGGTCTTCCAGATCCTCTCTTGGCCTCCTAGTCTCACTCTCTCTTAAGAAGCAGGAGGTTTCCAACCCCAAGGGGTCATCACAGAGCCTTGAGATACAAACCCAGGGCCCAGGAGACCCAGCATAGGCCATGGAAGGTCCCTAGTGAAAGAGCAGGCATGCTTTGGAGTTGGAAAGACTTGGGTTCAGGTTCTAGTACTGGTCATGAGACCTTGAGCCAAATACAGTCACGTGCAGCTTAACAACATTTCATTCAATGAGGAATCATATATACAACAGTGGTCTGGTAAGATTATAATACTGTACTGTATTTTTACTGTATCTTTTCTATGTCTAGATGCACATACTTACCGTATGTTACAACTGCCTACAGTATTCAGTACAGTTACATGCTGTACAGATTTGTAGCCTAGGAGCAATGGGGTATACCGCAGAGCCTAGGTGTGTAGTATGCTATGCCATCTAGGTTTGTGTAGTACACTCTATGAAGTTCACACAATGACAAAATCACCTAACAATGCATTTCTCAGAATGTATCCCTGTCATTTAGCAATGCACGACTGTACTGAAATCTGAGACTCAGTTTCTTTATGAACAAACTGGGCATAATCGTAGTATAATACTTACCTCATAGGGTTGTATGAACAAAATAAACTACACAAATCACTTAGCTTAGTTTGTGGCTCACAGTACACACTCAAAAAAAGGTACCTGCTCTTACTGTTATTTTATCATTAACACTAAAACTAAAATCAAAATAATTCTGATTTCGTCCAGGGAAAAACAACCCCAAGGAACTTGGTTAGGATTAGGTTGGGTGAGGCAGATGATAGTCTCAGAACTGTTTCCTTTTGTTCCACTGGGGATAGCAACAGAACTAGAATATGTGAGATTAGACCAGCAAAATATTTTCAACTACAAGGGAATTTAGGGTGACAAGAGAGGCTCAAACACTTTCACTGGGAGTTTTCAAGAGACCCCCTGCCTGCCTGAGGTGGGGGAAGGAGGATCATTCACATAGAAGCTACAGGTCCTCTTATAGACATTGTAACAGTGACCCTGGGAGAAACTTTTCCCATTCCATATTATCCATTTCAAGGGCCCACTGCTCACCCTGGGGAGAGGCGTCAGTGAAGACCAGGTCCTCCAGGCCCTGCTCGATGACTTTGATTACAAACTCCGGCCGCCCGTTGTTCTCACCAATAGAACAGCGATAGCAGCAGCGACGATTGTTGGTGCGGAGGCTCCAATAGATGCGCGTGGCCTCGTAGCCCACGGGATAGAGGGCAGTGGCACTATGAAAGTCAGCCATCTGGTGAGGCAGCAGCTGTCCGATGGCGTGGAACACAAGGCCCCCCACACGGAACATGTGCAGCCGTTCTCCCCGCTGAATGATGCTAGCGATTTGCTTCACCTCGTCCCGCTCAATGTAGACCCGCCGGAAGACAGCAAAAGAGCTCAGCTCTTGCTCACAGGGCCCCTTGATCTTATGCATTGGACACAGCATGGTCTTGTCCTTGAAGAACATGCACTTGGCACGGATGGCACCAGCAAAATGGTAGACATTGGGGCAACGCATGCGATTGCAGCTGCTGGTGGCACCAGTTCGCTGGCACAGGGAGCACTTGGTTAGCAGTCCTCGGTGCAGGGCAACCTCCACATTCATCAGTGCCCCGCCCTGGGTCTCATACACCTCCGTGGACCAAAGGGCACAGTTGAGGTGCACCCACAGGTCCAGGTCCAGGTTCAGCAGACGGGCAGGCCCATCAGTGGCCCCGTCACCCTCCTCATGACAGAAACAGCAGCGACGCATGTCTCGCGGTACCTTGTCAGGTCGCAAGGCTGTGCCAAGCTGCTCCATAAACTCTGCCACTTCCCGCTCATCCTCCTGCCGCCCACTGCCCTTCTGGATGGTCAGCAGCAGCCGAAGCCGCTTCCAGCGCACTCCTTTCCATTTCTTGAGGCGAGGAGGACGGGAATCTTCACCTTCTTCAGGGGGCCGGGCACGGGGCTTGGGTCGGGCTGATTCAGGGGATGAGGCCAGTGGCAGAGGTGAGGGGACGGGTGGCTCAGCCAAGGGTTCGGTGGGAAGTTCAACCAAGGGCTCAGTAGGGGGACTGGCAGGAGAAGGTGCCAAGGGGGAAGGGGGCGGGGAGGGTTCTTCAGGAGGTGGGGCCGAGAGCTGTCGCACATCCAGATTGGAGACATTGTAGGTATAGCTGTGCTGAGTGGGTGGCTCTGGGGCGGGGCTCTCCTGTAGGAGGGTGCCCTGTATCATTAGTGCCAGCTCCTCATCTAACTAGCTCCCTCCTTCCCCTCACCCATATGCCACCCTCCCAAAAGGCCTCCACATTCTTTGCCCTAGACAGCCTCTTTTTTCTTTTCTTTTCTTTTTTTTTTGAGACACAGTCTTGCTCTGTTGCCCAGGCTGGATCCAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGGGATTCTCATGCCTCAGCCTTTCGAGTAGCTGGGATTACAGGCACGCACCATCACGCCTGGCTACTGTTTTGTTTTTGTTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTAAAGTGATTCACTCGCCTTGCCTCCCAAAGCACTGGGATTACAGATGTGAGCCACCGCGCCTGGCCGGCAGCCCCTTTTTTCTAACACCCACCCCTTTTTCTCCCCCAGACCTACCTGTTTCAGGAGGCTCAAGATGTCTAGTTGGCTCTTCAGGGTATAGCCAGGCAACACTGCATCAAACTGCTTCAGCCAATCAGGGCCAGTGTCTGGGCTCTTGCCTTCCAGACCCTTTTCCTTCCCACCTGCAGAAAGGAGTGGATCAGAGCCTCCCACCAGAATCACTCCCCTCAAGTCCCAAAGGGCTTCCCTGCCACACTCACCAGGACCCTCAGCTTCCCCCTTCTTTGGCTCAGTGCCTGCCCGGGCGGGGCTCTCTGGGAACAGCACCTCATAGGAGTTGGGGATCTTCATGCTCAGCAGCTCCGCCACTGCCACCATCACGCCATTCAGGTTCTGCCAGGGCCAGGGAAGGGATGGAAGAAACATATCAGCCAAGTGTCTGAGGTGAGCTCTACTACCAGCTGGGTGGGGACAAGGACACCTAGAACCCACTCCCCAGGGTAGTTCTATCCTATGTCACCCAGCTCTTTTCATACACTTCCCTCACAGCAGCCTTTCCCAAACTGCTGTGGGCACTGACGGGAGCTCCACGAAAAGGGAACTACATCAACTACGTTTAGGAAATGATGCATGCTCTATCCATGACTTGGAGGCTCATGATACACGTTAGCAAATTAAAAGGACCTGAGGACTCTTGTAGTAAAGAAACCCATATTGTCATTTTAACTGTGTTTTCCAACTTTCTTTGACCACAAAAGCCCGTTAATATTTTCAAAACAGCTGACAGAGTCCCACCAAACATGACTGGGGCAATGCTGTCATGTAGTACCTGTGTCATTACACACACAGGTGCTCCTTAGTTGTTGACTTGTCTGTCTTTACCATGGGACTACGAGCCCCGTGAGGGCAGGAACCA
|
Task1_train_17571
|
Gene KMT2D (lysine methyltransferase 2D) on Chromosome 12 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
|
Pathogenic; Kabuki syndrome 1
|
ATACTCACCTTAGCCTGAGTTTTTTTGGGGTTAGGCCAAAGTTCTCAGTGCCCGCCAAGCCCCCCAGCTCCCAGCCCCTTCCTTACTGATTCAGCTATGCGAAGCACGGCATGCACCGTCAGCCCAAAGAGCTCCTCGCCCTTCAGATACTCAGGGAAGAGTCGCAGCATGTCAGCCTCTTTTCTCATGGCAGCCACAGGCTCAATGATGCGATTCCACACGGCTAAGAAGCAGGGAAGAGAGCAGTCCTCAGAGGCAACTTCTGCTCACTGACCTCCAGTCCCTAACCCCAATCCAGAACTGCAGTTTTCTGAGGCCTTCAAGCCTCCCTATCATGAAGTTGTGTTGGTCTTCCAGATCCTCTCTTGGCCTCCTAGTCTCACTCTCTCTTAAGAAGCAGGAGGTTTCCAACCCCAAGGGGTCATCACAGAGCCTTGAGATACAAACCCAGGGCCCAGGAGACCCAGCATAGGCCATGGAAGGTCCCTAGTGAAAGAGCAGGCATGCTTTGGAGTTGGAAAGACTTGGGTTCAGGTTCTAGTACTGGTCATGAGACCTTGAGCCAAATACAGTCACGTGCAGCTTAACAACATTTCATTCAATGAGGAATCATATATACAACAGTGGTCTGGTAAGATTATAATACTGTACTGTATTTTTACTGTATCTTTTCTATGTCTAGATGCACATACTTACCGTATGTTACAACTGCCTACAGTATTCAGTACAGTTACATGCTGTACAGATTTGTAGCCTAGGAGCAATGGGGTATACCGCAGAGCCTAGGTGTGTAGTATGCTATGCCATCTAGGTTTGTGTAGTACACTCTATGAAGTTCACACAATGACAAAATCACCTAACAATGCATTTCTCAGAATGTATCCCTGTCATTTAGCAATGCACGACTGTACTGAAATCTGAGACTCAGTTTCTTTATGAACAAACTGGGCATAATCGTAGTATAATACTTACCTCATAGGGTTGTATGAACAAAATAAACTACACAAATCACTTAGCTTAGTTTGTGGCTCACAGTACACACTCAAAAAAAGGTACCTGCTCTTACTGTTATTTTATCATTAACACTAAAACTAAAATCAAAATAATTCTGATTTCGTCCAGGGAAAAACAACCCCAAGGAACTTGGTTAGGATTAGGTTGGGTGAGGCAGATGATAGTCTCAGAACTGTTTCCTTTTGTTCCACTGGGGATAGCAACAGAACTAGAATATGTGAGATTAGACCAGCAAAATATTTTCAACTACAAGGGAATTTAGGGTGACAAGAGAGGCTCAAACACTTTCACTGGGAGTTTTCAAGAGACCCCCTGCCTGCCTGAGGTGGGGGAAGGAGGATCATTCACATAGAAGCTACAGGTCCTCTTATAGACATTGTAACAGTGACCCTGGGAGAAACTTTTCCCATTCCATATTATCCATTTCAAGGGCCCACTGCTCACCCTGGGGAGAGGCGTCAGTGAAGACCAGGTCCTCCAGGCCCTGCTCGATGACTTTGATTACAAACTCCGGCCGCCCGTTGTTCTCACCAATAGAACAGCGATAGCAGCAGCGACGATTGTTGGTGCGGAGGCTCCAATAGATGCGCGTGGCCTCGTAGCCCACGGGATAGAGGGCAGTGGCACTATGAAAGTCAGCCATCTGGTGAGGCAGCAGCTGTCCGATGGCGTGGAACACAAGGCCCCCCACACGGAACATGTGCAGCCGTTCTCCCCGCTGAATGATGCTAGCGATTTGCTTCACCTCGTCCCGCTCAATGTAGACCCGCCGGAAGACAGCAAAAGAGCTCAGCTCTTGCTCACAGGGCCCCTTGATCTTATGCATTGGACACAGCATGGTCTTGTCCTTGAAGAACATGCACTTGGCACGGATGGCACAAGCAAAATGGTAGACATTGGGGCAACGCATGCGATTGCAGCTGCTGGTGGCACCAGTTCGCTGGCACAGGGAGCACTTGGTTAGCAGTCCTCGGTGCAGGGCAACCTCCACATTCATCAGTGCCCCGCCCTGGGTCTCATACACCTCCGTGGACCAAAGGGCACAGTTGAGGTGCACCCACAGGTCCAGGTCCAGGTTCAGCAGACGGGCAGGCCCATCAGTGGCCCCGTCACCCTCCTCATGACAGAAACAGCAGCGACGCATGTCTCGCGGTACCTTGTCAGGTCGCAAGGCTGTGCCAAGCTGCTCCATAAACTCTGCCACTTCCCGCTCATCCTCCTGCCGCCCACTGCCCTTCTGGATGGTCAGCAGCAGCCGAAGCCGCTTCCAGCGCACTCCTTTCCATTTCTTGAGGCGAGGAGGACGGGAATCTTCACCTTCTTCAGGGGGCCGGGCACGGGGCTTGGGTCGGGCTGATTCAGGGGATGAGGCCAGTGGCAGAGGTGAGGGGACGGGTGGCTCAGCCAAGGGTTCGGTGGGAAGTTCAACCAAGGGCTCAGTAGGGGGACTGGCAGGAGAAGGTGCCAAGGGGGAAGGGGGCGGGGAGGGTTCTTCAGGAGGTGGGGCCGAGAGCTGTCGCACATCCAGATTGGAGACATTGTAGGTATAGCTGTGCTGAGTGGGTGGCTCTGGGGCGGGGCTCTCCTGTAGGAGGGTGCCCTGTATCATTAGTGCCAGCTCCTCATCTAACTAGCTCCCTCCTTCCCCTCACCCATATGCCACCCTCCCAAAAGGCCTCCACATTCTTTGCCCTAGACAGCCTCTTTTTTCTTTTCTTTTCTTTTTTTTTTGAGACACAGTCTTGCTCTGTTGCCCAGGCTGGATCCAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGGGATTCTCATGCCTCAGCCTTTCGAGTAGCTGGGATTACAGGCACGCACCATCACGCCTGGCTACTGTTTTGTTTTTGTTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTAAAGTGATTCACTCGCCTTGCCTCCCAAAGCACTGGGATTACAGATGTGAGCCACCGCGCCTGGCCGGCAGCCCCTTTTTTCTAACACCCACCCCTTTTTCTCCCCCAGACCTACCTGTTTCAGGAGGCTCAAGATGTCTAGTTGGCTCTTCAGGGTATAGCCAGGCAACACTGCATCAAACTGCTTCAGCCAATCAGGGCCAGTGTCTGGGCTCTTGCCTTCCAGACCCTTTTCCTTCCCACCTGCAGAAAGGAGTGGATCAGAGCCTCCCACCAGAATCACTCCCCTCAAGTCCCAAAGGGCTTCCCTGCCACACTCACCAGGACCCTCAGCTTCCCCCTTCTTTGGCTCAGTGCCTGCCCGGGCGGGGCTCTCTGGGAACAGCACCTCATAGGAGTTGGGGATCTTCATGCTCAGCAGCTCCGCCACTGCCACCATCACGCCATTCAGGTTCTGCCAGGGCCAGGGAAGGGATGGAAGAAACATATCAGCCAAGTGTCTGAGGTGAGCTCTACTACCAGCTGGGTGGGGACAAGGACACCTAGAACCCACTCCCCAGGGTAGTTCTATCCTATGTCACCCAGCTCTTTTCATACACTTCCCTCACAGCAGCCTTTCCCAAACTGCTGTGGGCACTGACGGGAGCTCCACGAAAAGGGAACTACATCAACTACGTTTAGGAAATGATGCATGCTCTATCCATGACTTGGAGGCTCATGATACACGTTAGCAAATTAAAAGGACCTGAGGACTCTTGTAGTAAAGAAACCCATATTGTCATTTTAACTGTGTTTTCCAACTTTCTTTGACCACAAAAGCCCGTTAATATTTTCAAAACAGCTGACAGAGTCCCACCAAACATGACTGGGGCAATGCTGTCATGTAGTACCTGTGTCATTACACACACAGGTGCTCCTTAGTTGTTGACTTGTCTGTCTTTACCATGGGACTACGAGCCCCGTGAGGGCAGGAACCATGATTCATTTACCCGAATCTCACAGCCTCTAGCCCAGGCTTTCACATACAATAGGTACTCAGTACATGTGCTTGAACGACTACATTTTTCCTTATCCAGACAAATTCCAGGGACTGCCCTCTGATCAGGTTCCCCTCAGCCTCGAGGTACCCCTA
|
ATACTCACCTTAGCCTGAGTTTTTTTGGGGTTAGGCCAAAGTTCTCAGTGCCCGCCAAGCCCCCCAGCTCCCAGCCCCTTCCTTACTGATTCAGCTATGCGAAGCACGGCATGCACCGTCAGCCCAAAGAGCTCCTCGCCCTTCAGATACTCAGGGAAGAGTCGCAGCATGTCAGCCTCTTTTCTCATGGCAGCCACAGGCTCAATGATGCGATTCCACACGGCTAAGAAGCAGGGAAGAGAGCAGTCCTCAGAGGCAACTTCTGCTCACTGACCTCCAGTCCCTAACCCCAATCCAGAACTGCAGTTTTCTGAGGCCTTCAAGCCTCCCTATCATGAAGTTGTGTTGGTCTTCCAGATCCTCTCTTGGCCTCCTAGTCTCACTCTCTCTTAAGAAGCAGGAGGTTTCCAACCCCAAGGGGTCATCACAGAGCCTTGAGATACAAACCCAGGGCCCAGGAGACCCAGCATAGGCCATGGAAGGTCCCTAGTGAAAGAGCAGGCATGCTTTGGAGTTGGAAAGACTTGGGTTCAGGTTCTAGTACTGGTCATGAGACCTTGAGCCAAATACAGTCACGTGCAGCTTAACAACATTTCATTCAATGAGGAATCATATATACAACAGTGGTCTGGTAAGATTATAATACTGTACTGTATTTTTACTGTATCTTTTCTATGTCTAGATGCACATACTTACCGTATGTTACAACTGCCTACAGTATTCAGTACAGTTACATGCTGTACAGATTTGTAGCCTAGGAGCAATGGGGTATACCGCAGAGCCTAGGTGTGTAGTATGCTATGCCATCTAGGTTTGTGTAGTACACTCTATGAAGTTCACACAATGACAAAATCACCTAACAATGCATTTCTCAGAATGTATCCCTGTCATTTAGCAATGCACGACTGTACTGAAATCTGAGACTCAGTTTCTTTATGAACAAACTGGGCATAATCGTAGTATAATACTTACCTCATAGGGTTGTATGAACAAAATAAACTACACAAATCACTTAGCTTAGTTTGTGGCTCACAGTACACACTCAAAAAAAGGTACCTGCTCTTACTGTTATTTTATCATTAACACTAAAACTAAAATCAAAATAATTCTGATTTCGTCCAGGGAAAAACAACCCCAAGGAACTTGGTTAGGATTAGGTTGGGTGAGGCAGATGATAGTCTCAGAACTGTTTCCTTTTGTTCCACTGGGGATAGCAACAGAACTAGAATATGTGAGATTAGACCAGCAAAATATTTTCAACTACAAGGGAATTTAGGGTGACAAGAGAGGCTCAAACACTTTCACTGGGAGTTTTCAAGAGACCCCCTGCCTGCCTGAGGTGGGGGAAGGAGGATCATTCACATAGAAGCTACAGGTCCTCTTATAGACATTGTAACAGTGACCCTGGGAGAAACTTTTCCCATTCCATATTATCCATTTCAAGGGCCCACTGCTCACCCTGGGGAGAGGCGTCAGTGAAGACCAGGTCCTCCAGGCCCTGCTCGATGACTTTGATTACAAACTCCGGCCGCCCGTTGTTCTCACCAATAGAACAGCGATAGCAGCAGCGACGATTGTTGGTGCGGAGGCTCCAATAGATGCGCGTGGCCTCGTAGCCCACGGGATAGAGGGCAGTGGCACTATGAAAGTCAGCCATCTGGTGAGGCAGCAGCTGTCCGATGGCGTGGAACACAAGGCCCCCCACACGGAACATGTGCAGCCGTTCTCCCCGCTGAATGATGCTAGCGATTTGCTTCACCTCGTCCCGCTCAATGTAGACCCGCCGGAAGACAGCAAAAGAGCTCAGCTCTTGCTCACAGGGCCCCTTGATCTTATGCATTGGACACAGCATGGTCTTGTCCTTGAAGAACATGCACTTGGCACGGATGGCACAAGCAAAATGGTAGACATTGGGGCAACGCATGCGATTGCAGCTGCTGGTGGCACCAGTTCGCTGGCACAGGGAGCACTTGGTTAGCAGTCCTCGGTGCAGGGCAACCTCCACATTCATCAGTGCCCCGCCCTGGGTCTCATACACCTCCGTGGACGAAAGGGCACAGTTGAGGTGCACCCACAGGTCCAGGTCCAGGTTCAGCAGACGGGCAGGCCCATCAGTGGCCCCGTCACCCTCCTCATGACAGAAACAGCAGCGACGCATGTCTCGCGGTACCTTGTCAGGTCGCAAGGCTGTGCCAAGCTGCTCCATAAACTCTGCCACTTCCCGCTCATCCTCCTGCCGCCCACTGCCCTTCTGGATGGTCAGCAGCAGCCGAAGCCGCTTCCAGCGCACTCCTTTCCATTTCTTGAGGCGAGGAGGACGGGAATCTTCACCTTCTTCAGGGGGCCGGGCACGGGGCTTGGGTCGGGCTGATTCAGGGGATGAGGCCAGTGGCAGAGGTGAGGGGACGGGTGGCTCAGCCAAGGGTTCGGTGGGAAGTTCAACCAAGGGCTCAGTAGGGGGACTGGCAGGAGAAGGTGCCAAGGGGGAAGGGGGCGGGGAGGGTTCTTCAGGAGGTGGGGCCGAGAGCTGTCGCACATCCAGATTGGAGACATTGTAGGTATAGCTGTGCTGAGTGGGTGGCTCTGGGGCGGGGCTCTCCTGTAGGAGGGTGCCCTGTATCATTAGTGCCAGCTCCTCATCTAACTAGCTCCCTCCTTCCCCTCACCCATATGCCACCCTCCCAAAAGGCCTCCACATTCTTTGCCCTAGACAGCCTCTTTTTTCTTTTCTTTTCTTTTTTTTTTGAGACACAGTCTTGCTCTGTTGCCCAGGCTGGATCCAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGGGATTCTCATGCCTCAGCCTTTCGAGTAGCTGGGATTACAGGCACGCACCATCACGCCTGGCTACTGTTTTGTTTTTGTTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTAAAGTGATTCACTCGCCTTGCCTCCCAAAGCACTGGGATTACAGATGTGAGCCACCGCGCCTGGCCGGCAGCCCCTTTTTTCTAACACCCACCCCTTTTTCTCCCCCAGACCTACCTGTTTCAGGAGGCTCAAGATGTCTAGTTGGCTCTTCAGGGTATAGCCAGGCAACACTGCATCAAACTGCTTCAGCCAATCAGGGCCAGTGTCTGGGCTCTTGCCTTCCAGACCCTTTTCCTTCCCACCTGCAGAAAGGAGTGGATCAGAGCCTCCCACCAGAATCACTCCCCTCAAGTCCCAAAGGGCTTCCCTGCCACACTCACCAGGACCCTCAGCTTCCCCCTTCTTTGGCTCAGTGCCTGCCCGGGCGGGGCTCTCTGGGAACAGCACCTCATAGGAGTTGGGGATCTTCATGCTCAGCAGCTCCGCCACTGCCACCATCACGCCATTCAGGTTCTGCCAGGGCCAGGGAAGGGATGGAAGAAACATATCAGCCAAGTGTCTGAGGTGAGCTCTACTACCAGCTGGGTGGGGACAAGGACACCTAGAACCCACTCCCCAGGGTAGTTCTATCCTATGTCACCCAGCTCTTTTCATACACTTCCCTCACAGCAGCCTTTCCCAAACTGCTGTGGGCACTGACGGGAGCTCCACGAAAAGGGAACTACATCAACTACGTTTAGGAAATGATGCATGCTCTATCCATGACTTGGAGGCTCATGATACACGTTAGCAAATTAAAAGGACCTGAGGACTCTTGTAGTAAAGAAACCCATATTGTCATTTTAACTGTGTTTTCCAACTTTCTTTGACCACAAAAGCCCGTTAATATTTTCAAAACAGCTGACAGAGTCCCACCAAACATGACTGGGGCAATGCTGTCATGTAGTACCTGTGTCATTACACACACAGGTGCTCCTTAGTTGTTGACTTGTCTGTCTTTACCATGGGACTACGAGCCCCGTGAGGGCAGGAACCATGATTCATTTACCCGAATCTCACAGCCTCTAGCCCAGGCTTTCACATACAATAGGTACTCAGTACATGTGCTTGAACGACTACATTTTTCCTTATCCAGACAAATTCCAGGGACTGCCCTCTGATCAGGTTCCCCTCAGCCTCGAGGTACCCCTA
|
Task1_train_17572
|
Gene KMT2D (lysine methyltransferase 2D), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; Kabuki syndrome
|
TTAGCCTGAGTTTTTTTGGGGTTAGGCCAAAGTTCTCAGTGCCCGCCAAGCCCCCCAGCTCCCAGCCCCTTCCTTACTGATTCAGCTATGCGAAGCACGGCATGCACCGTCAGCCCAAAGAGCTCCTCGCCCTTCAGATACTCAGGGAAGAGTCGCAGCATGTCAGCCTCTTTTCTCATGGCAGCCACAGGCTCAATGATGCGATTCCACACGGCTAAGAAGCAGGGAAGAGAGCAGTCCTCAGAGGCAACTTCTGCTCACTGACCTCCAGTCCCTAACCCCAATCCAGAACTGCAGTTTTCTGAGGCCTTCAAGCCTCCCTATCATGAAGTTGTGTTGGTCTTCCAGATCCTCTCTTGGCCTCCTAGTCTCACTCTCTCTTAAGAAGCAGGAGGTTTCCAACCCCAAGGGGTCATCACAGAGCCTTGAGATACAAACCCAGGGCCCAGGAGACCCAGCATAGGCCATGGAAGGTCCCTAGTGAAAGAGCAGGCATGCTTTGGAGTTGGAAAGACTTGGGTTCAGGTTCTAGTACTGGTCATGAGACCTTGAGCCAAATACAGTCACGTGCAGCTTAACAACATTTCATTCAATGAGGAATCATATATACAACAGTGGTCTGGTAAGATTATAATACTGTACTGTATTTTTACTGTATCTTTTCTATGTCTAGATGCACATACTTACCGTATGTTACAACTGCCTACAGTATTCAGTACAGTTACATGCTGTACAGATTTGTAGCCTAGGAGCAATGGGGTATACCGCAGAGCCTAGGTGTGTAGTATGCTATGCCATCTAGGTTTGTGTAGTACACTCTATGAAGTTCACACAATGACAAAATCACCTAACAATGCATTTCTCAGAATGTATCCCTGTCATTTAGCAATGCACGACTGTACTGAAATCTGAGACTCAGTTTCTTTATGAACAAACTGGGCATAATCGTAGTATAATACTTACCTCATAGGGTTGTATGAACAAAATAAACTACACAAATCACTTAGCTTAGTTTGTGGCTCACAGTACACACTCAAAAAAAGGTACCTGCTCTTACTGTTATTTTATCATTAACACTAAAACTAAAATCAAAATAATTCTGATTTCGTCCAGGGAAAAACAACCCCAAGGAACTTGGTTAGGATTAGGTTGGGTGAGGCAGATGATAGTCTCAGAACTGTTTCCTTTTGTTCCACTGGGGATAGCAACAGAACTAGAATATGTGAGATTAGACCAGCAAAATATTTTCAACTACAAGGGAATTTAGGGTGACAAGAGAGGCTCAAACACTTTCACTGGGAGTTTTCAAGAGACCCCCTGCCTGCCTGAGGTGGGGGAAGGAGGATCATTCACATAGAAGCTACAGGTCCTCTTATAGACATTGTAACAGTGACCCTGGGAGAAACTTTTCCCATTCCATATTATCCATTTCAAGGGCCCACTGCTCACCCTGGGGAGAGGCGTCAGTGAAGACCAGGTCCTCCAGGCCCTGCTCGATGACTTTGATTACAAACTCCGGCCGCCCGTTGTTCTCACCAATAGAACAGCGATAGCAGCAGCGACGATTGTTGGTGCGGAGGCTCCAATAGATGCGCGTGGCCTCGTAGCCCACGGGATAGAGGGCAGTGGCACTATGAAAGTCAGCCATCTGGTGAGGCAGCAGCTGTCCGATGGCGTGGAACACAAGGCCCCCCACACGGAACATGTGCAGCCGTTCTCCCCGCTGAATGATGCTAGCGATTTGCTTCACCTCGTCCCGCTCAATGTAGACCCGCCGGAAGACAGCAAAAGAGCTCAGCTCTTGCTCACAGGGCCCCTTGATCTTATGCATTGGACACAGCATGGTCTTGTCCTTGAAGAACATGCACTTGGCACGGATGGCACAAGCAAAATGGTAGACATTGGGGCAACGCATGCGATTGCAGCTGCTGGTGGCACCAGTTCGCTGGCACAGGGAGCACTTGGTTAGCAGTCCTCGGTGCAGGGCAACCTCCACATTCATCAGTGCCCCGCCCTGGGTCTCATACACCTCCGTGGACCAAAGGGCACAGTTGAGGTGCACCCACAGGTCCAGGTCCAGGTTCAGCAGACGGGCAGGCCCATCAGTGGCCCCGTCACCCTCCTCATGACAGAAACAGCAGCGACGCATGTCTCGCGGTACCTTGTCAGGTCGCAAGGCTGTGCCAAGCTGCTCCATAAACTCTGCCACTTCCCGCTCATCCTCCTGCCGCCCACTGCCCTTCTGGATGGTCAGCAGCAGCCGAAGCCGCTTCCAGCGCACTCCTTTCCATTTCTTGAGGCGAGGAGGACGGGAATCTTCACCTTCTTCAGGGGGCCGGGCACGGGGCTTGGGTCGGGCTGATTCAGGGGATGAGGCCAGTGGCAGAGGTGAGGGGACGGGTGGCTCAGCCAAGGGTTCGGTGGGAAGTTCAACCAAGGGCTCAGTAGGGGGACTGGCAGGAGAAGGTGCCAAGGGGGAAGGGGGCGGGGAGGGTTCTTCAGGAGGTGGGGCCGAGAGCTGTCGCACATCCAGATTGGAGACATTGTAGGTATAGCTGTGCTGAGTGGGTGGCTCTGGGGCGGGGCTCTCCTGTAGGAGGGTGCCCTGTATCATTAGTGCCAGCTCCTCATCTAACTAGCTCCCTCCTTCCCCTCACCCATATGCCACCCTCCCAAAAGGCCTCCACATTCTTTGCCCTAGACAGCCTCTTTTTTCTTTTCTTTTCTTTTTTTTTTGAGACACAGTCTTGCTCTGTTGCCCAGGCTGGATCCAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGGGATTCTCATGCCTCAGCCTTTCGAGTAGCTGGGATTACAGGCACGCACCATCACGCCTGGCTACTGTTTTGTTTTTGTTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTAAAGTGATTCACTCGCCTTGCCTCCCAAAGCACTGGGATTACAGATGTGAGCCACCGCGCCTGGCCGGCAGCCCCTTTTTTCTAACACCCACCCCTTTTTCTCCCCCAGACCTACCTGTTTCAGGAGGCTCAAGATGTCTAGTTGGCTCTTCAGGGTATAGCCAGGCAACACTGCATCAAACTGCTTCAGCCAATCAGGGCCAGTGTCTGGGCTCTTGCCTTCCAGACCCTTTTCCTTCCCACCTGCAGAAAGGAGTGGATCAGAGCCTCCCACCAGAATCACTCCCCTCAAGTCCCAAAGGGCTTCCCTGCCACACTCACCAGGACCCTCAGCTTCCCCCTTCTTTGGCTCAGTGCCTGCCCGGGCGGGGCTCTCTGGGAACAGCACCTCATAGGAGTTGGGGATCTTCATGCTCAGCAGCTCCGCCACTGCCACCATCACGCCATTCAGGTTCTGCCAGGGCCAGGGAAGGGATGGAAGAAACATATCAGCCAAGTGTCTGAGGTGAGCTCTACTACCAGCTGGGTGGGGACAAGGACACCTAGAACCCACTCCCCAGGGTAGTTCTATCCTATGTCACCCAGCTCTTTTCATACACTTCCCTCACAGCAGCCTTTCCCAAACTGCTGTGGGCACTGACGGGAGCTCCACGAAAAGGGAACTACATCAACTACGTTTAGGAAATGATGCATGCTCTATCCATGACTTGGAGGCTCATGATACACGTTAGCAAATTAAAAGGACCTGAGGACTCTTGTAGTAAAGAAACCCATATTGTCATTTTAACTGTGTTTTCCAACTTTCTTTGACCACAAAAGCCCGTTAATATTTTCAAAACAGCTGACAGAGTCCCACCAAACATGACTGGGGCAATGCTGTCATGTAGTACCTGTGTCATTACACACACAGGTGCTCCTTAGTTGTTGACTTGTCTGTCTTTACCATGGGACTACGAGCCCCGTGAGGGCAGGAACCATGATTCATTTACCCGAATCTCACAGCCTCTAGCCCAGGCTTTCACATACAATAGGTACTCAGTACATGTGCTTGAACGACTACATTTTTCCTTATCCAGACAAATTCCAGGGACTGCCCTCTGATCAGGTTCCCCTCAGCCTCGAGGTACCCCTAGGACACACC
|
TTAGCCTGAGTTTTTTTGGGGTTAGGCCAAAGTTCTCAGTGCCCGCCAAGCCCCCCAGCTCCCAGCCCCTTCCTTACTGATTCAGCTATGCGAAGCACGGCATGCACCGTCAGCCCAAAGAGCTCCTCGCCCTTCAGATACTCAGGGAAGAGTCGCAGCATGTCAGCCTCTTTTCTCATGGCAGCCACAGGCTCAATGATGCGATTCCACACGGCTAAGAAGCAGGGAAGAGAGCAGTCCTCAGAGGCAACTTCTGCTCACTGACCTCCAGTCCCTAACCCCAATCCAGAACTGCAGTTTTCTGAGGCCTTCAAGCCTCCCTATCATGAAGTTGTGTTGGTCTTCCAGATCCTCTCTTGGCCTCCTAGTCTCACTCTCTCTTAAGAAGCAGGAGGTTTCCAACCCCAAGGGGTCATCACAGAGCCTTGAGATACAAACCCAGGGCCCAGGAGACCCAGCATAGGCCATGGAAGGTCCCTAGTGAAAGAGCAGGCATGCTTTGGAGTTGGAAAGACTTGGGTTCAGGTTCTAGTACTGGTCATGAGACCTTGAGCCAAATACAGTCACGTGCAGCTTAACAACATTTCATTCAATGAGGAATCATATATACAACAGTGGTCTGGTAAGATTATAATACTGTACTGTATTTTTACTGTATCTTTTCTATGTCTAGATGCACATACTTACCGTATGTTACAACTGCCTACAGTATTCAGTACAGTTACATGCTGTACAGATTTGTAGCCTAGGAGCAATGGGGTATACCGCAGAGCCTAGGTGTGTAGTATGCTATGCCATCTAGGTTTGTGTAGTACACTCTATGAAGTTCACACAATGACAAAATCACCTAACAATGCATTTCTCAGAATGTATCCCTGTCATTTAGCAATGCACGACTGTACTGAAATCTGAGACTCAGTTTCTTTATGAACAAACTGGGCATAATCGTAGTATAATACTTACCTCATAGGGTTGTATGAACAAAATAAACTACACAAATCACTTAGCTTAGTTTGTGGCTCACAGTACACACTCAAAAAAAGGTACCTGCTCTTACTGTTATTTTATCATTAACACTAAAACTAAAATCAAAATAATTCTGATTTCGTCCAGGGAAAAACAACCCCAAGGAACTTGGTTAGGATTAGGTTGGGTGAGGCAGATGATAGTCTCAGAACTGTTTCCTTTTGTTCCACTGGGGATAGCAACAGAACTAGAATATGTGAGATTAGACCAGCAAAATATTTTCAACTACAAGGGAATTTAGGGTGACAAGAGAGGCTCAAACACTTTCACTGGGAGTTTTCAAGAGACCCCCTGCCTGCCTGAGGTGGGGGAAGGAGGATCATTCACATAGAAGCTACAGGTCCTCTTATAGACATTGTAACAGTGACCCTGGGAGAAACTTTTCCCATTCCATATTATCCATTTCAAGGGCCCACTGCTCACCCTGGGGAGAGGCGTCAGTGAAGACCAGGTCCTCCAGGCCCTGCTCGATGACTTTGATTACAAACTCCGGCCGCCCGTTGTTCTCACCAATAGAACAGCGATAGCAGCAGCGACGATTGTTGGTGCGGAGGCTCCAATAGATGCGCGTGGCCTCGTAGCCCACGGGATAGAGGGCAGTGGCACTATGAAAGTCAGCCATCTGGTGAGGCAGCAGCTGTCCGATGGCGTGGAACACAAGGCCCCCCACACGGAACATGTGCAGCCGTTCTCCCCGCTGAATGATGCTAGCGATTTGCTTCACCTCGTCCCGCTCAATGTAGACCCGCCGGAAGACAGCAAAAGAGCTCAGCTCTTGCTCACAGGGCCCCTTGATCTTATGCATTGGACACAGCATGGTCTTGTCCTTGAAGAACATGCACTTGGCACGGATGGCACAAGCAAAATGGTAGACATTGGGGCAACGCATGCGATTGCAGCTGCTGGTGGCACCAGTTCGCTGGCACAGGGAGCACTTGGTTAGCAGTCCTCGGTGCAGGGCAACCTCCACATTCATCAGTGCCCCGCCCTGGGTCTCATACACCTCCGTGGACCAAAGGGCATAGTTGAGGTGCACCCACAGGTCCAGGTCCAGGTTCAGCAGACGGGCAGGCCCATCAGTGGCCCCGTCACCCTCCTCATGACAGAAACAGCAGCGACGCATGTCTCGCGGTACCTTGTCAGGTCGCAAGGCTGTGCCAAGCTGCTCCATAAACTCTGCCACTTCCCGCTCATCCTCCTGCCGCCCACTGCCCTTCTGGATGGTCAGCAGCAGCCGAAGCCGCTTCCAGCGCACTCCTTTCCATTTCTTGAGGCGAGGAGGACGGGAATCTTCACCTTCTTCAGGGGGCCGGGCACGGGGCTTGGGTCGGGCTGATTCAGGGGATGAGGCCAGTGGCAGAGGTGAGGGGACGGGTGGCTCAGCCAAGGGTTCGGTGGGAAGTTCAACCAAGGGCTCAGTAGGGGGACTGGCAGGAGAAGGTGCCAAGGGGGAAGGGGGCGGGGAGGGTTCTTCAGGAGGTGGGGCCGAGAGCTGTCGCACATCCAGATTGGAGACATTGTAGGTATAGCTGTGCTGAGTGGGTGGCTCTGGGGCGGGGCTCTCCTGTAGGAGGGTGCCCTGTATCATTAGTGCCAGCTCCTCATCTAACTAGCTCCCTCCTTCCCCTCACCCATATGCCACCCTCCCAAAAGGCCTCCACATTCTTTGCCCTAGACAGCCTCTTTTTTCTTTTCTTTTCTTTTTTTTTTGAGACACAGTCTTGCTCTGTTGCCCAGGCTGGATCCAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGGGATTCTCATGCCTCAGCCTTTCGAGTAGCTGGGATTACAGGCACGCACCATCACGCCTGGCTACTGTTTTGTTTTTGTTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTAAAGTGATTCACTCGCCTTGCCTCCCAAAGCACTGGGATTACAGATGTGAGCCACCGCGCCTGGCCGGCAGCCCCTTTTTTCTAACACCCACCCCTTTTTCTCCCCCAGACCTACCTGTTTCAGGAGGCTCAAGATGTCTAGTTGGCTCTTCAGGGTATAGCCAGGCAACACTGCATCAAACTGCTTCAGCCAATCAGGGCCAGTGTCTGGGCTCTTGCCTTCCAGACCCTTTTCCTTCCCACCTGCAGAAAGGAGTGGATCAGAGCCTCCCACCAGAATCACTCCCCTCAAGTCCCAAAGGGCTTCCCTGCCACACTCACCAGGACCCTCAGCTTCCCCCTTCTTTGGCTCAGTGCCTGCCCGGGCGGGGCTCTCTGGGAACAGCACCTCATAGGAGTTGGGGATCTTCATGCTCAGCAGCTCCGCCACTGCCACCATCACGCCATTCAGGTTCTGCCAGGGCCAGGGAAGGGATGGAAGAAACATATCAGCCAAGTGTCTGAGGTGAGCTCTACTACCAGCTGGGTGGGGACAAGGACACCTAGAACCCACTCCCCAGGGTAGTTCTATCCTATGTCACCCAGCTCTTTTCATACACTTCCCTCACAGCAGCCTTTCCCAAACTGCTGTGGGCACTGACGGGAGCTCCACGAAAAGGGAACTACATCAACTACGTTTAGGAAATGATGCATGCTCTATCCATGACTTGGAGGCTCATGATACACGTTAGCAAATTAAAAGGACCTGAGGACTCTTGTAGTAAAGAAACCCATATTGTCATTTTAACTGTGTTTTCCAACTTTCTTTGACCACAAAAGCCCGTTAATATTTTCAAAACAGCTGACAGAGTCCCACCAAACATGACTGGGGCAATGCTGTCATGTAGTACCTGTGTCATTACACACACAGGTGCTCCTTAGTTGTTGACTTGTCTGTCTTTACCATGGGACTACGAGCCCCGTGAGGGCAGGAACCATGATTCATTTACCCGAATCTCACAGCCTCTAGCCCAGGCTTTCACATACAATAGGTACTCAGTACATGTGCTTGAACGACTACATTTTTCCTTATCCAGACAAATTCCAGGGACTGCCCTCTGATCAGGTTCCCCTCAGCCTCGAGGTACCCCTAGGACACACC
|
Task1_train_17573
|
A sequence alteration has been identified in KMT2D (lysine methyltransferase 2D) on Chromosome 12. Is it disease-inducing or harmless?
|
Pathogenic; Kabuki syndrome 1
|
TCAGCTATGCGAAGCACGGCATGCACCGTCAGCCCAAAGAGCTCCTCGCCCTTCAGATACTCAGGGAAGAGTCGCAGCATGTCAGCCTCTTTTCTCATGGCAGCCACAGGCTCAATGATGCGATTCCACACGGCTAAGAAGCAGGGAAGAGAGCAGTCCTCAGAGGCAACTTCTGCTCACTGACCTCCAGTCCCTAACCCCAATCCAGAACTGCAGTTTTCTGAGGCCTTCAAGCCTCCCTATCATGAAGTTGTGTTGGTCTTCCAGATCCTCTCTTGGCCTCCTAGTCTCACTCTCTCTTAAGAAGCAGGAGGTTTCCAACCCCAAGGGGTCATCACAGAGCCTTGAGATACAAACCCAGGGCCCAGGAGACCCAGCATAGGCCATGGAAGGTCCCTAGTGAAAGAGCAGGCATGCTTTGGAGTTGGAAAGACTTGGGTTCAGGTTCTAGTACTGGTCATGAGACCTTGAGCCAAATACAGTCACGTGCAGCTTAACAACATTTCATTCAATGAGGAATCATATATACAACAGTGGTCTGGTAAGATTATAATACTGTACTGTATTTTTACTGTATCTTTTCTATGTCTAGATGCACATACTTACCGTATGTTACAACTGCCTACAGTATTCAGTACAGTTACATGCTGTACAGATTTGTAGCCTAGGAGCAATGGGGTATACCGCAGAGCCTAGGTGTGTAGTATGCTATGCCATCTAGGTTTGTGTAGTACACTCTATGAAGTTCACACAATGACAAAATCACCTAACAATGCATTTCTCAGAATGTATCCCTGTCATTTAGCAATGCACGACTGTACTGAAATCTGAGACTCAGTTTCTTTATGAACAAACTGGGCATAATCGTAGTATAATACTTACCTCATAGGGTTGTATGAACAAAATAAACTACACAAATCACTTAGCTTAGTTTGTGGCTCACAGTACACACTCAAAAAAAGGTACCTGCTCTTACTGTTATTTTATCATTAACACTAAAACTAAAATCAAAATAATTCTGATTTCGTCCAGGGAAAAACAACCCCAAGGAACTTGGTTAGGATTAGGTTGGGTGAGGCAGATGATAGTCTCAGAACTGTTTCCTTTTGTTCCACTGGGGATAGCAACAGAACTAGAATATGTGAGATTAGACCAGCAAAATATTTTCAACTACAAGGGAATTTAGGGTGACAAGAGAGGCTCAAACACTTTCACTGGGAGTTTTCAAGAGACCCCCTGCCTGCCTGAGGTGGGGGAAGGAGGATCATTCACATAGAAGCTACAGGTCCTCTTATAGACATTGTAACAGTGACCCTGGGAGAAACTTTTCCCATTCCATATTATCCATTTCAAGGGCCCACTGCTCACCCTGGGGAGAGGCGTCAGTGAAGACCAGGTCCTCCAGGCCCTGCTCGATGACTTTGATTACAAACTCCGGCCGCCCGTTGTTCTCACCAATAGAACAGCGATAGCAGCAGCGACGATTGTTGGTGCGGAGGCTCCAATAGATGCGCGTGGCCTCGTAGCCCACGGGATAGAGGGCAGTGGCACTATGAAAGTCAGCCATCTGGTGAGGCAGCAGCTGTCCGATGGCGTGGAACACAAGGCCCCCCACACGGAACATGTGCAGCCGTTCTCCCCGCTGAATGATGCTAGCGATTTGCTTCACCTCGTCCCGCTCAATGTAGACCCGCCGGAAGACAGCAAAAGAGCTCAGCTCTTGCTCACAGGGCCCCTTGATCTTATGCATTGGACACAGCATGGTCTTGTCCTTGAAGAACATGCACTTGGCACGGATGGCACAAGCAAAATGGTAGACATTGGGGCAACGCATGCGATTGCAGCTGCTGGTGGCACCAGTTCGCTGGCACAGGGAGCACTTGGTTAGCAGTCCTCGGTGCAGGGCAACCTCCACATTCATCAGTGCCCCGCCCTGGGTCTCATACACCTCCGTGGACCAAAGGGCACAGTTGAGGTGCACCCACAGGTCCAGGTCCAGGTTCAGCAGACGGGCAGGCCCATCAGTGGCCCCGTCACCCTCCTCATGACAGAAACAGCAGCGACGCATGTCTCGCGGTACCTTGTCAGGTCGCAAGGCTGTGCCAAGCTGCTCCATAAACTCTGCCACTTCCCGCTCATCCTCCTGCCGCCCACTGCCCTTCTGGATGGTCAGCAGCAGCCGAAGCCGCTTCCAGCGCACTCCTTTCCATTTCTTGAGGCGAGGAGGACGGGAATCTTCACCTTCTTCAGGGGGCCGGGCACGGGGCTTGGGTCGGGCTGATTCAGGGGATGAGGCCAGTGGCAGAGGTGAGGGGACGGGTGGCTCAGCCAAGGGTTCGGTGGGAAGTTCAACCAAGGGCTCAGTAGGGGGACTGGCAGGAGAAGGTGCCAAGGGGGAAGGGGGCGGGGAGGGTTCTTCAGGAGGTGGGGCCGAGAGCTGTCGCACATCCAGATTGGAGACATTGTAGGTATAGCTGTGCTGAGTGGGTGGCTCTGGGGCGGGGCTCTCCTGTAGGAGGGTGCCCTGTATCATTAGTGCCAGCTCCTCATCTAACTAGCTCCCTCCTTCCCCTCACCCATATGCCACCCTCCCAAAAGGCCTCCACATTCTTTGCCCTAGACAGCCTCTTTTTTCTTTTCTTTTCTTTTTTTTTTGAGACACAGTCTTGCTCTGTTGCCCAGGCTGGATCCAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGGGATTCTCATGCCTCAGCCTTTCGAGTAGCTGGGATTACAGGCACGCACCATCACGCCTGGCTACTGTTTTGTTTTTGTTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTAAAGTGATTCACTCGCCTTGCCTCCCAAAGCACTGGGATTACAGATGTGAGCCACCGCGCCTGGCCGGCAGCCCCTTTTTTCTAACACCCACCCCTTTTTCTCCCCCAGACCTACCTGTTTCAGGAGGCTCAAGATGTCTAGTTGGCTCTTCAGGGTATAGCCAGGCAACACTGCATCAAACTGCTTCAGCCAATCAGGGCCAGTGTCTGGGCTCTTGCCTTCCAGACCCTTTTCCTTCCCACCTGCAGAAAGGAGTGGATCAGAGCCTCCCACCAGAATCACTCCCCTCAAGTCCCAAAGGGCTTCCCTGCCACACTCACCAGGACCCTCAGCTTCCCCCTTCTTTGGCTCAGTGCCTGCCCGGGCGGGGCTCTCTGGGAACAGCACCTCATAGGAGTTGGGGATCTTCATGCTCAGCAGCTCCGCCACTGCCACCATCACGCCATTCAGGTTCTGCCAGGGCCAGGGAAGGGATGGAAGAAACATATCAGCCAAGTGTCTGAGGTGAGCTCTACTACCAGCTGGGTGGGGACAAGGACACCTAGAACCCACTCCCCAGGGTAGTTCTATCCTATGTCACCCAGCTCTTTTCATACACTTCCCTCACAGCAGCCTTTCCCAAACTGCTGTGGGCACTGACGGGAGCTCCACGAAAAGGGAACTACATCAACTACGTTTAGGAAATGATGCATGCTCTATCCATGACTTGGAGGCTCATGATACACGTTAGCAAATTAAAAGGACCTGAGGACTCTTGTAGTAAAGAAACCCATATTGTCATTTTAACTGTGTTTTCCAACTTTCTTTGACCACAAAAGCCCGTTAATATTTTCAAAACAGCTGACAGAGTCCCACCAAACATGACTGGGGCAATGCTGTCATGTAGTACCTGTGTCATTACACACACAGGTGCTCCTTAGTTGTTGACTTGTCTGTCTTTACCATGGGACTACGAGCCCCGTGAGGGCAGGAACCATGATTCATTTACCCGAATCTCACAGCCTCTAGCCCAGGCTTTCACATACAATAGGTACTCAGTACATGTGCTTGAACGACTACATTTTTCCTTATCCAGACAAATTCCAGGGACTGCCCTCTGATCAGGTTCCCCTCAGCCTCGAGGTACCCCTAGGACACACCTTGGCTGCAGCAGCAGAGACTGTGAGCATGACTGACACCTCACTTCCTTTGCCCTTTTCCCAAGTTGTGACAGGCAGCTTT
|
TCAGCTATGCGAAGCACGGCATGCACCGTCAGCCCAAAGAGCTCCTCGCCCTTCAGATACTCAGGGAAGAGTCGCAGCATGTCAGCCTCTTTTCTCATGGCAGCCACAGGCTCAATGATGCGATTCCACACGGCTAAGAAGCAGGGAAGAGAGCAGTCCTCAGAGGCAACTTCTGCTCACTGACCTCCAGTCCCTAACCCCAATCCAGAACTGCAGTTTTCTGAGGCCTTCAAGCCTCCCTATCATGAAGTTGTGTTGGTCTTCCAGATCCTCTCTTGGCCTCCTAGTCTCACTCTCTCTTAAGAAGCAGGAGGTTTCCAACCCCAAGGGGTCATCACAGAGCCTTGAGATACAAACCCAGGGCCCAGGAGACCCAGCATAGGCCATGGAAGGTCCCTAGTGAAAGAGCAGGCATGCTTTGGAGTTGGAAAGACTTGGGTTCAGGTTCTAGTACTGGTCATGAGACCTTGAGCCAAATACAGTCACGTGCAGCTTAACAACATTTCATTCAATGAGGAATCATATATACAACAGTGGTCTGGTAAGATTATAATACTGTACTGTATTTTTACTGTATCTTTTCTATGTCTAGATGCACATACTTACCGTATGTTACAACTGCCTACAGTATTCAGTACAGTTACATGCTGTACAGATTTGTAGCCTAGGAGCAATGGGGTATACCGCAGAGCCTAGGTGTGTAGTATGCTATGCCATCTAGGTTTGTGTAGTACACTCTATGAAGTTCACACAATGACAAAATCACCTAACAATGCATTTCTCAGAATGTATCCCTGTCATTTAGCAATGCACGACTGTACTGAAATCTGAGACTCAGTTTCTTTATGAACAAACTGGGCATAATCGTAGTATAATACTTACCTCATAGGGTTGTATGAACAAAATAAACTACACAAATCACTTAGCTTAGTTTGTGGCTCACAGTACACACTCAAAAAAAGGTACCTGCTCTTACTGTTATTTTATCATTAACACTAAAACTAAAATCAAAATAATTCTGATTTCGTCCAGGGAAAAACAACCCCAAGGAACTTGGTTAGGATTAGGTTGGGTGAGGCAGATGATAGTCTCAGAACTGTTTCCTTTTGTTCCACTGGGGATAGCAACAGAACTAGAATATGTGAGATTAGACCAGCAAAATATTTTCAACTACAAGGGAATTTAGGGTGACAAGAGAGGCTCAAACACTTTCACTGGGAGTTTTCAAGAGACCCCCTGCCTGCCTGAGGTGGGGGAAGGAGGATCATTCACATAGAAGCTACAGGTCCTCTTATAGACATTGTAACAGTGACCCTGGGAGAAACTTTTCCCATTCCATATTATCCATTTCAAGGGCCCACTGCTCACCCTGGGGAGAGGCGTCAGTGAAGACCAGGTCCTCCAGGCCCTGCTCGATGACTTTGATTACAAACTCCGGCCGCCCGTTGTTCTCACCAATAGAACAGCGATAGCAGCAGCGACGATTGTTGGTGCGGAGGCTCCAATAGATGCGCGTGGCCTCGTAGCCCACGGGATAGAGGGCAGTGGCACTATGAAAGTCAGCCATCTGGTGAGGCAGCAGCTGTCCGATGGCGTGGAACACAAGGCCCCCCACACGGAACATGTGCAGCCGTTCTCCCCGCTGAATGATGCTAGCGATTTGCTTCACCTCGTCCCGCTCAATGTAGACCCGCCGGAAGACAGCAAAAGAGCTCAGCTCTTGCTCACAGGGCCCCTTGATCTTATGCATTGGACACAGCATGGTCTTGTCCTTGAAGAACATGCACTTGGCACGGATGGCACAAGCAAAATGGTAGACATTGGGGCAACGCATGCGATTGCAGCTGCTGGTGGCACCAGTTCGCTGGCACAGGGAGCACTTGGTTAGCAGTCCTCGGTGCAGGGCAACCTCCACATTCATCAGTGCCCCGCCCTGGGTCTCATACACCTCCGTGGACCAAAGGGCACAGTTGAGGTGCACCCACAGGTCCAGGTCCAGGTTCAGCAGACGGGCAGGCCCATCAGTGGCCCCGTCACCCTCCTCATGATAGAAACAGCAGCGACGCATGTCTCGCGGTACCTTGTCAGGTCGCAAGGCTGTGCCAAGCTGCTCCATAAACTCTGCCACTTCCCGCTCATCCTCCTGCCGCCCACTGCCCTTCTGGATGGTCAGCAGCAGCCGAAGCCGCTTCCAGCGCACTCCTTTCCATTTCTTGAGGCGAGGAGGACGGGAATCTTCACCTTCTTCAGGGGGCCGGGCACGGGGCTTGGGTCGGGCTGATTCAGGGGATGAGGCCAGTGGCAGAGGTGAGGGGACGGGTGGCTCAGCCAAGGGTTCGGTGGGAAGTTCAACCAAGGGCTCAGTAGGGGGACTGGCAGGAGAAGGTGCCAAGGGGGAAGGGGGCGGGGAGGGTTCTTCAGGAGGTGGGGCCGAGAGCTGTCGCACATCCAGATTGGAGACATTGTAGGTATAGCTGTGCTGAGTGGGTGGCTCTGGGGCGGGGCTCTCCTGTAGGAGGGTGCCCTGTATCATTAGTGCCAGCTCCTCATCTAACTAGCTCCCTCCTTCCCCTCACCCATATGCCACCCTCCCAAAAGGCCTCCACATTCTTTGCCCTAGACAGCCTCTTTTTTCTTTTCTTTTCTTTTTTTTTTGAGACACAGTCTTGCTCTGTTGCCCAGGCTGGATCCAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGGGATTCTCATGCCTCAGCCTTTCGAGTAGCTGGGATTACAGGCACGCACCATCACGCCTGGCTACTGTTTTGTTTTTGTTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTAAAGTGATTCACTCGCCTTGCCTCCCAAAGCACTGGGATTACAGATGTGAGCCACCGCGCCTGGCCGGCAGCCCCTTTTTTCTAACACCCACCCCTTTTTCTCCCCCAGACCTACCTGTTTCAGGAGGCTCAAGATGTCTAGTTGGCTCTTCAGGGTATAGCCAGGCAACACTGCATCAAACTGCTTCAGCCAATCAGGGCCAGTGTCTGGGCTCTTGCCTTCCAGACCCTTTTCCTTCCCACCTGCAGAAAGGAGTGGATCAGAGCCTCCCACCAGAATCACTCCCCTCAAGTCCCAAAGGGCTTCCCTGCCACACTCACCAGGACCCTCAGCTTCCCCCTTCTTTGGCTCAGTGCCTGCCCGGGCGGGGCTCTCTGGGAACAGCACCTCATAGGAGTTGGGGATCTTCATGCTCAGCAGCTCCGCCACTGCCACCATCACGCCATTCAGGTTCTGCCAGGGCCAGGGAAGGGATGGAAGAAACATATCAGCCAAGTGTCTGAGGTGAGCTCTACTACCAGCTGGGTGGGGACAAGGACACCTAGAACCCACTCCCCAGGGTAGTTCTATCCTATGTCACCCAGCTCTTTTCATACACTTCCCTCACAGCAGCCTTTCCCAAACTGCTGTGGGCACTGACGGGAGCTCCACGAAAAGGGAACTACATCAACTACGTTTAGGAAATGATGCATGCTCTATCCATGACTTGGAGGCTCATGATACACGTTAGCAAATTAAAAGGACCTGAGGACTCTTGTAGTAAAGAAACCCATATTGTCATTTTAACTGTGTTTTCCAACTTTCTTTGACCACAAAAGCCCGTTAATATTTTCAAAACAGCTGACAGAGTCCCACCAAACATGACTGGGGCAATGCTGTCATGTAGTACCTGTGTCATTACACACACAGGTGCTCCTTAGTTGTTGACTTGTCTGTCTTTACCATGGGACTACGAGCCCCGTGAGGGCAGGAACCATGATTCATTTACCCGAATCTCACAGCCTCTAGCCCAGGCTTTCACATACAATAGGTACTCAGTACATGTGCTTGAACGACTACATTTTTCCTTATCCAGACAAATTCCAGGGACTGCCCTCTGATCAGGTTCCCCTCAGCCTCGAGGTACCCCTAGGACACACCTTGGCTGCAGCAGCAGAGACTGTGAGCATGACTGACACCTCACTTCCTTTGCCCTTTTCCCAAGTTGTGACAGGCAGCTTT
|
Task1_train_17574
|
The variant affects gene KMT2D (lysine methyltransferase 2D), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
|
Pathogenic; Kabuki syndrome 1
|
CGCTGCATGAGGAGTGCCTGTAGCTGCTGCTGCTGCTGAGGACTTAAGTGCCGCAGCTGTGGGTTTTTGGCCAGGACTCCTTGGAGCTGTGCTCGAAGCTGACCCACCGTAGGCATGATTCCAACCCCAGGCAGACCCTGCCCAGACTGGAGGACAGGTCCTGGTTTGGGAGGTTGTGGCCCTGTATTATTTTGCATGGGCCGCTCTAGCATGGGCTGTTGGGGGCCCAGAAGGTTCTGGGTCATGGACCCAGGCTGATCCCCTAAGGAAACAGAGGGCTGAGCCAGCAGGTGGGGCACAGATGAGGCCTCAGAAGATGATCCACTGCCTAGCTGCCCATGGCTTCCTCCACCTGCTGTGTGGAGCAGGCTAACTTGCTGCTGCTGTTGTCCTGGAAGCCTCAGAGGTGGCTGCAGCTGCAGAGAGCTGGGCTGAGGCTGGGGCTGGGGTTGGACAAGCAGGAGTTGTGAGTCCCCAGAGAGTGAGGGCTTTACCTCTCCTGGTTCAGTGGCCATTGACTCAGGGGTAGTTCCTATTGCTAACGGCCCTCCCTGATGTGTAGAGGGCCCCTCAGTGGCCTCTGAAGAAACGGCTGGGTCTACGGTGTTTTGTTCCTTGCCCGTCAGGAGGAGGGTTGGACCCAGGGCTCCAGGGCTAGAAAAGTGTTGAAGAGGCTTTGCTGGCATGCCAGGGCCAAGTGCCACTTGCTGCTGCTGTTGTTGCTGAGGAGACAGTAAAGTTCGACTCTGGTTTAAAAGGCCCATCTGCTGCTGTTGCTGCTGCTGTTGAAACTGCTGCTGTTGTTGTTGCTGTTGCTGTTGTAGCTGCTGTTGCTGCTGTTGAAGCTGTTGCTGCTGCTGTTGTTGAAGCTGCTGCTGCTGTTGCTGCTGTTGAAGCTGTTGCTGCTGAAGTTGCTGTTGCTGTTGTAGCTGCTGCTGCTGCTGCTGCTGAAGTTGCTGTTGCTGTTGCAGCTGCTGCTGCTGCTGAAGCTGCTGTAAAGAGCCCATGGGCTGAGCGCTCAGTTTGGGCTGCCCACTGTGTGACATCAGACTCTGCTGAAGATGGGACAGCCCTGCCATGGACCCTTGCTGTTGGTGCTGTTGTTGCTGCTGCTGCTGCTGGGCTGTGACCAGCCTGTGTCCCATAAGGCCCTGACCCTGCTGTGCCAGCTGGGGGGAACTGAGCACCCGGGACTGGGTCATAAGCACCTGTCTGTGAGGGCCCTGGGGGCCCAAAGCTCCAGGGTGCTGCTGCTGCAACACAGCCACCTGGGCAGGGCCCAGCATGCCCTGGGGCCCCTGGGGTGGTTGAGGGGACAGCTGCTGGACCAGGAGGCCTTGGTGGCTGCTGGGAGGCATAAGGCCCTGGGGCTTGGGACCCAGAGCTTGGTTTGTCTGTACTCCAGGACCCTGCTGCTGTTGCTGCTGGATTGCCACCTGTCCTAGAAGGTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCAGTTTCTGGGCCAGCTGCATACGTTGCTGCTGCAGCTGCAGCTGCCTTTCCTGTAAAAGCCTTGAATCAGGTCCGAGGCTTCGAAGAGCAAGGTTGCCAGGGAAGAAGCCCCCTGAAGGGCCAGCCAGGGATCCAGCCCCACCAGAATGTTGCTGTTGCTGCTGTTGGGCCAGAGCTGTATTAAGGAAGGGGCCACCAGGCTGTCCAGGTAGTGCCATACCCCCAGGGGTCAGGCGAAGACCTCCGGCTTGCCCACCCGGAGGCCCCTGTGGTGGCTGCAGCCCATGGCCAGGGAGCAGCTGACCAGGGAGCTTGGTGAGCAGCCGGGGACTCTGGGAAGGGCTGAGAGCCAGCACAGCTGAGTGCTGTTGCTGTTGTTGCTGCTGCTGCTGCTGTTGTTGCTGCTGCTTGTTCCGATATTCTGCCATGAGATTAGTGTGCTCCTTCTGCTGTTTCCGGACCTAACATGGGAGGGTCGGAGAGGTCAGGCTGGGGCATGCTCCCCCCATGCCAACCCTCTTCCCTGCCTTCTGGGTGCTAGGCTGAAGTTTGCTTTCCCCCACCTGATCCAGTTGTTTCTGGATCTTGCTCTGCTGCTCTGTAACCAGCTTGAGCTTCTCAGCATCAGCTTCTGGGAACTCACGGCCAGCTTTTTTGGCAGTGCGCTGCTTGGCACACAGAGCCTTCCGGGACTTGCGGTGTACACCAATCTGCTCCTCTAGCACCTTCAGCTGCATCTGTAGGAGCTGCTGGGTATGGAACAGCCACTCCTCATACTGCCGCTGGTCAGCTTCATCTGGGAAAAGAAGCTGGGTGTCAGGACCTGCAAAAGGGTAATCCCAATCCCTCTTCCTCCATATGACCCAAACCACTCCCCTGCACCTTCCTCCCACGCCCCATACTCACTGATCACTCCCTGAGCAAAAGTGGGCGGGTTGGGACGAGGCTGGGAGGGATCACCAGCACTCCGCTCCTGCAATGAGAGAGGCTGCTAAAGGGTCATTGTTCCCTGCTAGGCCCTAAGAAGGGTGGCCCAGTGGCATAAGACACAAGTTCCTACTCCCACCTGACCACTTACCTGGCCACTCCCAGCTGCCACATGGTTCTGCAGATCACTGCTAGGTCCCCCCGAGAGCCTCTGGGCTAGCAGAGACACTTGCTGTCTGGAGTCCACCAAAGCACAGAAGATAAGTGTTGGCAATAAGAAAGTTGGAAAGCAAAGAGACGTGGGACAAGTAGGGAGGGGAGCCAAGAAGGGGTGTGACTGGGAAAGAAAAGGGCCAACCCCATTCCAGCCCTGAGTCTTACCTGTTCATACCAGGTGCCACCCCAATGCTGCCCTGAGCCATCACTTTCTTGATGCCTTTCAAAGCCACCATCTTGGCCTTTGCAATGGGATCAATGATATCTTCTGCAGCAAATTTGTCCAGGTCTGGAGAGGGGAGAACCAAGTGAGCTGGGCTATGGGGCCAATGCTCCAGTGAATATCTGCGATTCCCTTCAACATCCTGACTTCAACCACGCCAGGCAGAACAATGGCACGGCAAGGCAGAAAGACCACTGAATTAGGAGCCAGTCGGCCTGGGTGAATCAGCTCTATTCACAGGACATGTGGGCCTGTTTTTACTTGCACCGTGCTACAAAAAGGGGCTCCGTAAATATTTGTTGAGTCAACCTGTGTTATTTCACCTCAGTTTACCCTTTTATTTGATACAGATGATGATCCCTACTCCGTCTACCTCACAGAGGTGTTAAGAGGATCAAATGTGACAAGAATATAAGTACACTTTATGACTCGGAAAGCATTCTTCAAAGGTAATGTTCTTAGTCCAACTAGCACAGCCCAAGCACCCAAGATGCTGGCACTGTTGCAAAGCCCTAGATTCCAGAGCTGTTTTGGGCATCACCTGTAGTCCACTCTCCTGTCTGTCTAGAATGCTGGGCAAAAAAGAAGAAACAACCAACCACCAAAAACTTACATCATCCTAAAATCCCACACTTTGTATATTTCTCCACTGCTCAGAAAACTTAACTGAGCATCCACTTTCTTTTTTTCTTTTCTTTTCTTTTTTAAAGACAGAGTCTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGTGCAATTTAGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTGCCGAGTAGCTGTGATTACAGGTGCCCACCACCAAGCCCAGCTAATTTTTGTATTTTTAGTAGAAACGAGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTAAAGGCGTGAGCCACAGCACCTGGCCAGAGCTCCCACTTTCTTAAGGACTAACCCAAACTCCCTCTCCTGGAATCCTGAGGCAGTAAACAGTTAAGAGGAGTACCGACCAGACTTCAGATCTAGCTCTGCTAGCTGCTGTGTAATCTTGGACAAGTTACTTAACCTCCACTTCTGTTTCCTCTTCTGTAATCAAAGATAATAACAATACCTATTTAATGAGTCTGCTATAATGATTAAATTGGACAAAAAGTATAAAGTGCTCAGTAAACTCCTTGGCAAA
|
CGCTGCATGAGGAGTGCCTGTAGCTGCTGCTGCTGCTGAGGACTTAAGTGCCGCAGCTGTGGGTTTTTGGCCAGGACTCCTTGGAGCTGTGCTCGAAGCTGACCCACCGTAGGCATGATTCCAACCCCAGGCAGACCCTGCCCAGACTGGAGGACAGGTCCTGGTTTGGGAGGTTGTGGCCCTGTATTATTTTGCATGGGCCGCTCTAGCATGGGCTGTTGGGGGCCCAGAAGGTTCTGGGTCATGGACCCAGGCTGATCCCCTAAGGAAACAGAGGGCTGAGCCAGCAGGTGGGGCACAGATGAGGCCTCAGAAGATGATCCACTGCCTAGCTGCCCATGGCTTCCTCCACCTGCTGTGTGGAGCAGGCTAACTTGCTGCTGCTGTTGTCCTGGAAGCCTCAGAGGTGGCTGCAGCTGCAGAGAGCTGGGCTGAGGCTGGGGCTGGGGTTGGACAAGCAGGAGTTGTGAGTCCCCAGAGAGTGAGGGCTTTACCTCTCCTGGTTCAGTGGCCATTGACTCAGGGGTAGTTCCTATTGCTAACGGCCCTCCCTGATGTGTAGAGGGCCCCTCAGTGGCCTCTGAAGAAACGGCTGGGTCTACGGTGTTTTGTTCCTTGCCCGTCAGGAGGAGGGTTGGACCCAGGGCTCCAGGGCTAGAAAAGTGTTGAAGAGGCTTTGCTGGCATGCCAGGGCCAAGTGCCACTTGCTGCTGCTGTTGTTGCTGAGGAGACAGTAAAGTTCGACTCTGGTTTAAAAGGCCCATCTGCTGCTGTTGCTGCTGCTGTTGAAACTGCTGCTGTTGTTGTTGCTGTTGCTGTTGTAGCTGCTGTTGCTGCTGTTGAAGCTGTTGCTGCTGCTGTTGTTGAAGCTGCTGCTGCTGTTGCTGCTGTTGAAGCTGTTGCTGCTGAAGTTGCTGTTGCTGTTGTAGCTGCTGCTGCTGCTGCTGCTGAAGTTGCTGTTGCTGTTGCAGCTGCTGCTGCTGCTGAAGCTGCTGTAAAGAGCCCATGGGCTGAGCGCTCAGTTTGGGCTGCCCACTGTGTGACATCAGACTCTGCTGAAGATGGGACAGCCCTGCCATGGACCCTTGCTGTTGGTGCTGTTGTTGCTGCTGCTGCTGCTGGGCTGTGACCAGCCTGTGTCCCATAAGGCCCTGACCCTGCTGTGCCAGCTGGGGGGAACTGAGCACCCGGGACTGGGTCATAAGCACCTGTCTGTGAGGGCCCTGGGGGCCCAAAGCTCCAGGGTGCTGCTGCTGCAACACAGCCACCTGGGCAGGGCCCAGCATGCCCTGGGGCCCCTGGGGTGGTTGAGGGGACAGCTGCTGGACCAGGAGGCCTTGGTGGCTGCTGGGAGGCATAAGGCCCTGGGGCTTGGGACCCAGAGCTTGGTTTGTCTGTACTCCAGGACCCTGCTGCTGTTGCTGCTGGATTGCCACCTGTCCTAGAAGGTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCAGTTTCTGGGCCAGCTGCATACGTTGCTGCTGCAGCTGCAGCTGCCTTTCCTGTAAAAGCCTTGAATCAGGTCCGAGGCTTCGAAGAGCAAGGTTGCCAGGGAAGAAGCCCCCTGAAGGGCCAGCCAGGGATCCAGCCCCACCAGAATGTTGCTGTTGCTGCTGTTGGGCCAGAGCTGTATTAAGGAAGGGGCCACCAGGCTGTCCAGGTAGTGCCATACCCCCAGGGGTCAGGCGAAGACCTCCGGCTTGCCCACCCGGAGGCCCCTGTGGTGGCTGCAGCCCATGGCCAGGGAGCAGCTGACCAGGGAGCTTGGTGAGCAGCCGGGGACTCTGGGAAGGGCTGAGAGCCAGCACAGCTGAGTGCTGTTGCTGTTGTTGCTGCTGCTGCTGCTGTTGTTGCTGCTGCTTGTTCCGATATTCTGCCATGAGATTAGTGTGCTCCTTCTGCTGTTTCCGGACCTAACATGGGAGGGTCGGAGAGGTCAGGCTGGGGCATGCTCCCCCCATGCCAACCCTCTTCCCTGCCTTCTGGGTGCTAGGCTGAAGTTTGCTTTCCCCCACATGATCCAGTTGTTTCTGGATCTTGCTCTGCTGCTCTGTAACCAGCTTGAGCTTCTCAGCATCAGCTTCTGGGAACTCACGGCCAGCTTTTTTGGCAGTGCGCTGCTTGGCACACAGAGCCTTCCGGGACTTGCGGTGTACACCAATCTGCTCCTCTAGCACCTTCAGCTGCATCTGTAGGAGCTGCTGGGTATGGAACAGCCACTCCTCATACTGCCGCTGGTCAGCTTCATCTGGGAAAAGAAGCTGGGTGTCAGGACCTGCAAAAGGGTAATCCCAATCCCTCTTCCTCCATATGACCCAAACCACTCCCCTGCACCTTCCTCCCACGCCCCATACTCACTGATCACTCCCTGAGCAAAAGTGGGCGGGTTGGGACGAGGCTGGGAGGGATCACCAGCACTCCGCTCCTGCAATGAGAGAGGCTGCTAAAGGGTCATTGTTCCCTGCTAGGCCCTAAGAAGGGTGGCCCAGTGGCATAAGACACAAGTTCCTACTCCCACCTGACCACTTACCTGGCCACTCCCAGCTGCCACATGGTTCTGCAGATCACTGCTAGGTCCCCCCGAGAGCCTCTGGGCTAGCAGAGACACTTGCTGTCTGGAGTCCACCAAAGCACAGAAGATAAGTGTTGGCAATAAGAAAGTTGGAAAGCAAAGAGACGTGGGACAAGTAGGGAGGGGAGCCAAGAAGGGGTGTGACTGGGAAAGAAAAGGGCCAACCCCATTCCAGCCCTGAGTCTTACCTGTTCATACCAGGTGCCACCCCAATGCTGCCCTGAGCCATCACTTTCTTGATGCCTTTCAAAGCCACCATCTTGGCCTTTGCAATGGGATCAATGATATCTTCTGCAGCAAATTTGTCCAGGTCTGGAGAGGGGAGAACCAAGTGAGCTGGGCTATGGGGCCAATGCTCCAGTGAATATCTGCGATTCCCTTCAACATCCTGACTTCAACCACGCCAGGCAGAACAATGGCACGGCAAGGCAGAAAGACCACTGAATTAGGAGCCAGTCGGCCTGGGTGAATCAGCTCTATTCACAGGACATGTGGGCCTGTTTTTACTTGCACCGTGCTACAAAAAGGGGCTCCGTAAATATTTGTTGAGTCAACCTGTGTTATTTCACCTCAGTTTACCCTTTTATTTGATACAGATGATGATCCCTACTCCGTCTACCTCACAGAGGTGTTAAGAGGATCAAATGTGACAAGAATATAAGTACACTTTATGACTCGGAAAGCATTCTTCAAAGGTAATGTTCTTAGTCCAACTAGCACAGCCCAAGCACCCAAGATGCTGGCACTGTTGCAAAGCCCTAGATTCCAGAGCTGTTTTGGGCATCACCTGTAGTCCACTCTCCTGTCTGTCTAGAATGCTGGGCAAAAAAGAAGAAACAACCAACCACCAAAAACTTACATCATCCTAAAATCCCACACTTTGTATATTTCTCCACTGCTCAGAAAACTTAACTGAGCATCCACTTTCTTTTTTTCTTTTCTTTTCTTTTTTAAAGACAGAGTCTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGTGCAATTTAGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTGCCGAGTAGCTGTGATTACAGGTGCCCACCACCAAGCCCAGCTAATTTTTGTATTTTTAGTAGAAACGAGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTAAAGGCGTGAGCCACAGCACCTGGCCAGAGCTCCCACTTTCTTAAGGACTAACCCAAACTCCCTCTCCTGGAATCCTGAGGCAGTAAACAGTTAAGAGGAGTACCGACCAGACTTCAGATCTAGCTCTGCTAGCTGCTGTGTAATCTTGGACAAGTTACTTAACCTCCACTTCTGTTTCCTCTTCTGTAATCAAAGATAATAACAATACCTATTTAATGAGTCTGCTATAATGATTAAATTGGACAAAAAGTATAAAGTGCTCAGTAAACTCCTTGGCAAA
|
Task1_train_17575
|
A mutation on Chromosome 12 affecting KMT2D (lysine methyltransferase 2D) has been found. Is it harmful or harmless? What disease, if any, does it cause?
|
Pathogenic; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
|
GGAGCTGTGCTCGAAGCTGACCCACCGTAGGCATGATTCCAACCCCAGGCAGACCCTGCCCAGACTGGAGGACAGGTCCTGGTTTGGGAGGTTGTGGCCCTGTATTATTTTGCATGGGCCGCTCTAGCATGGGCTGTTGGGGGCCCAGAAGGTTCTGGGTCATGGACCCAGGCTGATCCCCTAAGGAAACAGAGGGCTGAGCCAGCAGGTGGGGCACAGATGAGGCCTCAGAAGATGATCCACTGCCTAGCTGCCCATGGCTTCCTCCACCTGCTGTGTGGAGCAGGCTAACTTGCTGCTGCTGTTGTCCTGGAAGCCTCAGAGGTGGCTGCAGCTGCAGAGAGCTGGGCTGAGGCTGGGGCTGGGGTTGGACAAGCAGGAGTTGTGAGTCCCCAGAGAGTGAGGGCTTTACCTCTCCTGGTTCAGTGGCCATTGACTCAGGGGTAGTTCCTATTGCTAACGGCCCTCCCTGATGTGTAGAGGGCCCCTCAGTGGCCTCTGAAGAAACGGCTGGGTCTACGGTGTTTTGTTCCTTGCCCGTCAGGAGGAGGGTTGGACCCAGGGCTCCAGGGCTAGAAAAGTGTTGAAGAGGCTTTGCTGGCATGCCAGGGCCAAGTGCCACTTGCTGCTGCTGTTGTTGCTGAGGAGACAGTAAAGTTCGACTCTGGTTTAAAAGGCCCATCTGCTGCTGTTGCTGCTGCTGTTGAAACTGCTGCTGTTGTTGTTGCTGTTGCTGTTGTAGCTGCTGTTGCTGCTGTTGAAGCTGTTGCTGCTGCTGTTGTTGAAGCTGCTGCTGCTGTTGCTGCTGTTGAAGCTGTTGCTGCTGAAGTTGCTGTTGCTGTTGTAGCTGCTGCTGCTGCTGCTGCTGAAGTTGCTGTTGCTGTTGCAGCTGCTGCTGCTGCTGAAGCTGCTGTAAAGAGCCCATGGGCTGAGCGCTCAGTTTGGGCTGCCCACTGTGTGACATCAGACTCTGCTGAAGATGGGACAGCCCTGCCATGGACCCTTGCTGTTGGTGCTGTTGTTGCTGCTGCTGCTGCTGGGCTGTGACCAGCCTGTGTCCCATAAGGCCCTGACCCTGCTGTGCCAGCTGGGGGGAACTGAGCACCCGGGACTGGGTCATAAGCACCTGTCTGTGAGGGCCCTGGGGGCCCAAAGCTCCAGGGTGCTGCTGCTGCAACACAGCCACCTGGGCAGGGCCCAGCATGCCCTGGGGCCCCTGGGGTGGTTGAGGGGACAGCTGCTGGACCAGGAGGCCTTGGTGGCTGCTGGGAGGCATAAGGCCCTGGGGCTTGGGACCCAGAGCTTGGTTTGTCTGTACTCCAGGACCCTGCTGCTGTTGCTGCTGGATTGCCACCTGTCCTAGAAGGTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCAGTTTCTGGGCCAGCTGCATACGTTGCTGCTGCAGCTGCAGCTGCCTTTCCTGTAAAAGCCTTGAATCAGGTCCGAGGCTTCGAAGAGCAAGGTTGCCAGGGAAGAAGCCCCCTGAAGGGCCAGCCAGGGATCCAGCCCCACCAGAATGTTGCTGTTGCTGCTGTTGGGCCAGAGCTGTATTAAGGAAGGGGCCACCAGGCTGTCCAGGTAGTGCCATACCCCCAGGGGTCAGGCGAAGACCTCCGGCTTGCCCACCCGGAGGCCCCTGTGGTGGCTGCAGCCCATGGCCAGGGAGCAGCTGACCAGGGAGCTTGGTGAGCAGCCGGGGACTCTGGGAAGGGCTGAGAGCCAGCACAGCTGAGTGCTGTTGCTGTTGTTGCTGCTGCTGCTGCTGTTGTTGCTGCTGCTTGTTCCGATATTCTGCCATGAGATTAGTGTGCTCCTTCTGCTGTTTCCGGACCTAACATGGGAGGGTCGGAGAGGTCAGGCTGGGGCATGCTCCCCCCATGCCAACCCTCTTCCCTGCCTTCTGGGTGCTAGGCTGAAGTTTGCTTTCCCCCACCTGATCCAGTTGTTTCTGGATCTTGCTCTGCTGCTCTGTAACCAGCTTGAGCTTCTCAGCATCAGCTTCTGGGAACTCACGGCCAGCTTTTTTGGCAGTGCGCTGCTTGGCACACAGAGCCTTCCGGGACTTGCGGTGTACACCAATCTGCTCCTCTAGCACCTTCAGCTGCATCTGTAGGAGCTGCTGGGTATGGAACAGCCACTCCTCATACTGCCGCTGGTCAGCTTCATCTGGGAAAAGAAGCTGGGTGTCAGGACCTGCAAAAGGGTAATCCCAATCCCTCTTCCTCCATATGACCCAAACCACTCCCCTGCACCTTCCTCCCACGCCCCATACTCACTGATCACTCCCTGAGCAAAAGTGGGCGGGTTGGGACGAGGCTGGGAGGGATCACCAGCACTCCGCTCCTGCAATGAGAGAGGCTGCTAAAGGGTCATTGTTCCCTGCTAGGCCCTAAGAAGGGTGGCCCAGTGGCATAAGACACAAGTTCCTACTCCCACCTGACCACTTACCTGGCCACTCCCAGCTGCCACATGGTTCTGCAGATCACTGCTAGGTCCCCCCGAGAGCCTCTGGGCTAGCAGAGACACTTGCTGTCTGGAGTCCACCAAAGCACAGAAGATAAGTGTTGGCAATAAGAAAGTTGGAAAGCAAAGAGACGTGGGACAAGTAGGGAGGGGAGCCAAGAAGGGGTGTGACTGGGAAAGAAAAGGGCCAACCCCATTCCAGCCCTGAGTCTTACCTGTTCATACCAGGTGCCACCCCAATGCTGCCCTGAGCCATCACTTTCTTGATGCCTTTCAAAGCCACCATCTTGGCCTTTGCAATGGGATCAATGATATCTTCTGCAGCAAATTTGTCCAGGTCTGGAGAGGGGAGAACCAAGTGAGCTGGGCTATGGGGCCAATGCTCCAGTGAATATCTGCGATTCCCTTCAACATCCTGACTTCAACCACGCCAGGCAGAACAATGGCACGGCAAGGCAGAAAGACCACTGAATTAGGAGCCAGTCGGCCTGGGTGAATCAGCTCTATTCACAGGACATGTGGGCCTGTTTTTACTTGCACCGTGCTACAAAAAGGGGCTCCGTAAATATTTGTTGAGTCAACCTGTGTTATTTCACCTCAGTTTACCCTTTTATTTGATACAGATGATGATCCCTACTCCGTCTACCTCACAGAGGTGTTAAGAGGATCAAATGTGACAAGAATATAAGTACACTTTATGACTCGGAAAGCATTCTTCAAAGGTAATGTTCTTAGTCCAACTAGCACAGCCCAAGCACCCAAGATGCTGGCACTGTTGCAAAGCCCTAGATTCCAGAGCTGTTTTGGGCATCACCTGTAGTCCACTCTCCTGTCTGTCTAGAATGCTGGGCAAAAAAGAAGAAACAACCAACCACCAAAAACTTACATCATCCTAAAATCCCACACTTTGTATATTTCTCCACTGCTCAGAAAACTTAACTGAGCATCCACTTTCTTTTTTTCTTTTCTTTTCTTTTTTAAAGACAGAGTCTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGTGCAATTTAGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTGCCGAGTAGCTGTGATTACAGGTGCCCACCACCAAGCCCAGCTAATTTTTGTATTTTTAGTAGAAACGAGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTAAAGGCGTGAGCCACAGCACCTGGCCAGAGCTCCCACTTTCTTAAGGACTAACCCAAACTCCCTCTCCTGGAATCCTGAGGCAGTAAACAGTTAAGAGGAGTACCGACCAGACTTCAGATCTAGCTCTGCTAGCTGCTGTGTAATCTTGGACAAGTTACTTAACCTCCACTTCTGTTTCCTCTTCTGTAATCAAAGATAATAACAATACCTATTTAATGAGTCTGCTATAATGATTAAATTGGACAAAAAGTATAAAGTGCTCAGTAAACTCCTTGGCAAATAGTAATTACTCAATAAATGCTATTATAATTTGAGGTCTTTTTCAATCTGGCCCCCATCTTATCTCACCAAAATTATGTCAC
|
GGAGCTGTGCTCGAAGCTGACCCACCGTAGGCATGATTCCAACCCCAGGCAGACCCTGCCCAGACTGGAGGACAGGTCCTGGTTTGGGAGGTTGTGGCCCTGTATTATTTTGCATGGGCCGCTCTAGCATGGGCTGTTGGGGGCCCAGAAGGTTCTGGGTCATGGACCCAGGCTGATCCCCTAAGGAAACAGAGGGCTGAGCCAGCAGGTGGGGCACAGATGAGGCCTCAGAAGATGATCCACTGCCTAGCTGCCCATGGCTTCCTCCACCTGCTGTGTGGAGCAGGCTAACTTGCTGCTGCTGTTGTCCTGGAAGCCTCAGAGGTGGCTGCAGCTGCAGAGAGCTGGGCTGAGGCTGGGGCTGGGGTTGGACAAGCAGGAGTTGTGAGTCCCCAGAGAGTGAGGGCTTTACCTCTCCTGGTTCAGTGGCCATTGACTCAGGGGTAGTTCCTATTGCTAACGGCCCTCCCTGATGTGTAGAGGGCCCCTCAGTGGCCTCTGAAGAAACGGCTGGGTCTACGGTGTTTTGTTCCTTGCCCGTCAGGAGGAGGGTTGGACCCAGGGCTCCAGGGCTAGAAAAGTGTTGAAGAGGCTTTGCTGGCATGCCAGGGCCAAGTGCCACTTGCTGCTGCTGTTGTTGCTGAGGAGACAGTAAAGTTCGACTCTGGTTTAAAAGGCCCATCTGCTGCTGTTGCTGCTGCTGTTGAAACTGCTGCTGTTGTTGTTGCTGTTGCTGTTGTAGCTGCTGTTGCTGCTGTTGAAGCTGTTGCTGCTGCTGTTGTTGAAGCTGCTGCTGCTGTTGCTGCTGTTGAAGCTGTTGCTGCTGAAGTTGCTGTTGCTGTTGTAGCTGCTGCTGCTGCTGCTGCTGAAGTTGCTGTTGCTGTTGCAGCTGCTGCTGCTGCTGAAGCTGCTGTAAAGAGCCCATGGGCTGAGCGCTCAGTTTGGGCTGCCCACTGTGTGACATCAGACTCTGCTGAAGATGGGACAGCCCTGCCATGGACCCTTGCTGTTGGTGCTGTTGTTGCTGCTGCTGCTGCTGGGCTGTGACCAGCCTGTGTCCCATAAGGCCCTGACCCTGCTGTGCCAGCTGGGGGGAACTGAGCACCCGGGACTGGGTCATAAGCACCTGTCTGTGAGGGCCCTGGGGGCCCAAAGCTCCAGGGTGCTGCTGCTGCAACACAGCCACCTGGGCAGGGCCCAGCATGCCCTGGGGCCCCTGGGGTGGTTGAGGGGACAGCTGCTGGACCAGGAGGCCTTGGTGGCTGCTGGGAGGCATAAGGCCCTGGGGCTTGGGACCCAGAGCTTGGTTTGTCTGTACTCCAGGACCCTGCTGCTGTTGCTGCTGGATTGCCACCTGTCCTAGAAGGTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCAGTTTCTGGGCCAGCTGCATACGTTGCTGCTGCAGCTGCAGCTGCCTTTCCTGTAAAAGCCTTGAATCAGGTCCGAGGCTTCGAAGAGCAAGGTTGCCAGGGAAGAAGCCCCCTGAAGGGCCAGCCAGGGATCCAGCCCCACCAGAATGTTGCTGTTGCTGCTGTTGGGCCAGAGCTGTATTAAGGAAGGGGCCACCAGGCTGTCCAGGTAGTGCCATACCCCCAGGGGTCAGGCGAAGACCTCCGGCTTGCCCACCCGGAGGCCCCTGTGGTGGCTGCAGCCCATGGCCAGGGAGCAGCTGACCAGGGAGCTTGGTGAGCAGCCGGGGACTCTGGGAAGGGCTGAGAGCCAGCACAGCTGAGTGCTGTTGCTGTTGTTGCTGCTGCTGCTGCTGTTGTTGCTGCTGCTTGTTCCGATATTCTGCCATGAGATTAGTGTGCTCCTTCTGCTGTTTCCGGACCTAACATGGGAGGGTCGGAGAGGTCAGGCTGGGGCATGCTCCCCCCATGCCAACCCTCTTCCCTGCCTTCTGGGTGCTAGGCTGAAGTTTGCTTTCCCCCACCTGATCCAGTTGTTTCTGGATCTTGCTCTGCTGCTCTGTAACCAGCTTGAGCTTCTCAGCATCAGCTTCTGGGAACTCACGGACAGCTTTTTTGGCAGTGCGCTGCTTGGCACACAGAGCCTTCCGGGACTTGCGGTGTACACCAATCTGCTCCTCTAGCACCTTCAGCTGCATCTGTAGGAGCTGCTGGGTATGGAACAGCCACTCCTCATACTGCCGCTGGTCAGCTTCATCTGGGAAAAGAAGCTGGGTGTCAGGACCTGCAAAAGGGTAATCCCAATCCCTCTTCCTCCATATGACCCAAACCACTCCCCTGCACCTTCCTCCCACGCCCCATACTCACTGATCACTCCCTGAGCAAAAGTGGGCGGGTTGGGACGAGGCTGGGAGGGATCACCAGCACTCCGCTCCTGCAATGAGAGAGGCTGCTAAAGGGTCATTGTTCCCTGCTAGGCCCTAAGAAGGGTGGCCCAGTGGCATAAGACACAAGTTCCTACTCCCACCTGACCACTTACCTGGCCACTCCCAGCTGCCACATGGTTCTGCAGATCACTGCTAGGTCCCCCCGAGAGCCTCTGGGCTAGCAGAGACACTTGCTGTCTGGAGTCCACCAAAGCACAGAAGATAAGTGTTGGCAATAAGAAAGTTGGAAAGCAAAGAGACGTGGGACAAGTAGGGAGGGGAGCCAAGAAGGGGTGTGACTGGGAAAGAAAAGGGCCAACCCCATTCCAGCCCTGAGTCTTACCTGTTCATACCAGGTGCCACCCCAATGCTGCCCTGAGCCATCACTTTCTTGATGCCTTTCAAAGCCACCATCTTGGCCTTTGCAATGGGATCAATGATATCTTCTGCAGCAAATTTGTCCAGGTCTGGAGAGGGGAGAACCAAGTGAGCTGGGCTATGGGGCCAATGCTCCAGTGAATATCTGCGATTCCCTTCAACATCCTGACTTCAACCACGCCAGGCAGAACAATGGCACGGCAAGGCAGAAAGACCACTGAATTAGGAGCCAGTCGGCCTGGGTGAATCAGCTCTATTCACAGGACATGTGGGCCTGTTTTTACTTGCACCGTGCTACAAAAAGGGGCTCCGTAAATATTTGTTGAGTCAACCTGTGTTATTTCACCTCAGTTTACCCTTTTATTTGATACAGATGATGATCCCTACTCCGTCTACCTCACAGAGGTGTTAAGAGGATCAAATGTGACAAGAATATAAGTACACTTTATGACTCGGAAAGCATTCTTCAAAGGTAATGTTCTTAGTCCAACTAGCACAGCCCAAGCACCCAAGATGCTGGCACTGTTGCAAAGCCCTAGATTCCAGAGCTGTTTTGGGCATCACCTGTAGTCCACTCTCCTGTCTGTCTAGAATGCTGGGCAAAAAAGAAGAAACAACCAACCACCAAAAACTTACATCATCCTAAAATCCCACACTTTGTATATTTCTCCACTGCTCAGAAAACTTAACTGAGCATCCACTTTCTTTTTTTCTTTTCTTTTCTTTTTTAAAGACAGAGTCTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGTGCAATTTAGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTGCCGAGTAGCTGTGATTACAGGTGCCCACCACCAAGCCCAGCTAATTTTTGTATTTTTAGTAGAAACGAGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTAAAGGCGTGAGCCACAGCACCTGGCCAGAGCTCCCACTTTCTTAAGGACTAACCCAAACTCCCTCTCCTGGAATCCTGAGGCAGTAAACAGTTAAGAGGAGTACCGACCAGACTTCAGATCTAGCTCTGCTAGCTGCTGTGTAATCTTGGACAAGTTACTTAACCTCCACTTCTGTTTCCTCTTCTGTAATCAAAGATAATAACAATACCTATTTAATGAGTCTGCTATAATGATTAAATTGGACAAAAAGTATAAAGTGCTCAGTAAACTCCTTGGCAAATAGTAATTACTCAATAAATGCTATTATAATTTGAGGTCTTTTTCAATCTGGCCCCCATCTTATCTCACCAAAATTATGTCAC
|
Task1_train_17576
|
This mutation is located in gene KMT2D (lysine methyltransferase 2D) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism?
|
Pathogenic; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
|
TGATTCCAACCCCAGGCAGACCCTGCCCAGACTGGAGGACAGGTCCTGGTTTGGGAGGTTGTGGCCCTGTATTATTTTGCATGGGCCGCTCTAGCATGGGCTGTTGGGGGCCCAGAAGGTTCTGGGTCATGGACCCAGGCTGATCCCCTAAGGAAACAGAGGGCTGAGCCAGCAGGTGGGGCACAGATGAGGCCTCAGAAGATGATCCACTGCCTAGCTGCCCATGGCTTCCTCCACCTGCTGTGTGGAGCAGGCTAACTTGCTGCTGCTGTTGTCCTGGAAGCCTCAGAGGTGGCTGCAGCTGCAGAGAGCTGGGCTGAGGCTGGGGCTGGGGTTGGACAAGCAGGAGTTGTGAGTCCCCAGAGAGTGAGGGCTTTACCTCTCCTGGTTCAGTGGCCATTGACTCAGGGGTAGTTCCTATTGCTAACGGCCCTCCCTGATGTGTAGAGGGCCCCTCAGTGGCCTCTGAAGAAACGGCTGGGTCTACGGTGTTTTGTTCCTTGCCCGTCAGGAGGAGGGTTGGACCCAGGGCTCCAGGGCTAGAAAAGTGTTGAAGAGGCTTTGCTGGCATGCCAGGGCCAAGTGCCACTTGCTGCTGCTGTTGTTGCTGAGGAGACAGTAAAGTTCGACTCTGGTTTAAAAGGCCCATCTGCTGCTGTTGCTGCTGCTGTTGAAACTGCTGCTGTTGTTGTTGCTGTTGCTGTTGTAGCTGCTGTTGCTGCTGTTGAAGCTGTTGCTGCTGCTGTTGTTGAAGCTGCTGCTGCTGTTGCTGCTGTTGAAGCTGTTGCTGCTGAAGTTGCTGTTGCTGTTGTAGCTGCTGCTGCTGCTGCTGCTGAAGTTGCTGTTGCTGTTGCAGCTGCTGCTGCTGCTGAAGCTGCTGTAAAGAGCCCATGGGCTGAGCGCTCAGTTTGGGCTGCCCACTGTGTGACATCAGACTCTGCTGAAGATGGGACAGCCCTGCCATGGACCCTTGCTGTTGGTGCTGTTGTTGCTGCTGCTGCTGCTGGGCTGTGACCAGCCTGTGTCCCATAAGGCCCTGACCCTGCTGTGCCAGCTGGGGGGAACTGAGCACCCGGGACTGGGTCATAAGCACCTGTCTGTGAGGGCCCTGGGGGCCCAAAGCTCCAGGGTGCTGCTGCTGCAACACAGCCACCTGGGCAGGGCCCAGCATGCCCTGGGGCCCCTGGGGTGGTTGAGGGGACAGCTGCTGGACCAGGAGGCCTTGGTGGCTGCTGGGAGGCATAAGGCCCTGGGGCTTGGGACCCAGAGCTTGGTTTGTCTGTACTCCAGGACCCTGCTGCTGTTGCTGCTGGATTGCCACCTGTCCTAGAAGGTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCAGTTTCTGGGCCAGCTGCATACGTTGCTGCTGCAGCTGCAGCTGCCTTTCCTGTAAAAGCCTTGAATCAGGTCCGAGGCTTCGAAGAGCAAGGTTGCCAGGGAAGAAGCCCCCTGAAGGGCCAGCCAGGGATCCAGCCCCACCAGAATGTTGCTGTTGCTGCTGTTGGGCCAGAGCTGTATTAAGGAAGGGGCCACCAGGCTGTCCAGGTAGTGCCATACCCCCAGGGGTCAGGCGAAGACCTCCGGCTTGCCCACCCGGAGGCCCCTGTGGTGGCTGCAGCCCATGGCCAGGGAGCAGCTGACCAGGGAGCTTGGTGAGCAGCCGGGGACTCTGGGAAGGGCTGAGAGCCAGCACAGCTGAGTGCTGTTGCTGTTGTTGCTGCTGCTGCTGCTGTTGTTGCTGCTGCTTGTTCCGATATTCTGCCATGAGATTAGTGTGCTCCTTCTGCTGTTTCCGGACCTAACATGGGAGGGTCGGAGAGGTCAGGCTGGGGCATGCTCCCCCCATGCCAACCCTCTTCCCTGCCTTCTGGGTGCTAGGCTGAAGTTTGCTTTCCCCCACCTGATCCAGTTGTTTCTGGATCTTGCTCTGCTGCTCTGTAACCAGCTTGAGCTTCTCAGCATCAGCTTCTGGGAACTCACGGCCAGCTTTTTTGGCAGTGCGCTGCTTGGCACACAGAGCCTTCCGGGACTTGCGGTGTACACCAATCTGCTCCTCTAGCACCTTCAGCTGCATCTGTAGGAGCTGCTGGGTATGGAACAGCCACTCCTCATACTGCCGCTGGTCAGCTTCATCTGGGAAAAGAAGCTGGGTGTCAGGACCTGCAAAAGGGTAATCCCAATCCCTCTTCCTCCATATGACCCAAACCACTCCCCTGCACCTTCCTCCCACGCCCCATACTCACTGATCACTCCCTGAGCAAAAGTGGGCGGGTTGGGACGAGGCTGGGAGGGATCACCAGCACTCCGCTCCTGCAATGAGAGAGGCTGCTAAAGGGTCATTGTTCCCTGCTAGGCCCTAAGAAGGGTGGCCCAGTGGCATAAGACACAAGTTCCTACTCCCACCTGACCACTTACCTGGCCACTCCCAGCTGCCACATGGTTCTGCAGATCACTGCTAGGTCCCCCCGAGAGCCTCTGGGCTAGCAGAGACACTTGCTGTCTGGAGTCCACCAAAGCACAGAAGATAAGTGTTGGCAATAAGAAAGTTGGAAAGCAAAGAGACGTGGGACAAGTAGGGAGGGGAGCCAAGAAGGGGTGTGACTGGGAAAGAAAAGGGCCAACCCCATTCCAGCCCTGAGTCTTACCTGTTCATACCAGGTGCCACCCCAATGCTGCCCTGAGCCATCACTTTCTTGATGCCTTTCAAAGCCACCATCTTGGCCTTTGCAATGGGATCAATGATATCTTCTGCAGCAAATTTGTCCAGGTCTGGAGAGGGGAGAACCAAGTGAGCTGGGCTATGGGGCCAATGCTCCAGTGAATATCTGCGATTCCCTTCAACATCCTGACTTCAACCACGCCAGGCAGAACAATGGCACGGCAAGGCAGAAAGACCACTGAATTAGGAGCCAGTCGGCCTGGGTGAATCAGCTCTATTCACAGGACATGTGGGCCTGTTTTTACTTGCACCGTGCTACAAAAAGGGGCTCCGTAAATATTTGTTGAGTCAACCTGTGTTATTTCACCTCAGTTTACCCTTTTATTTGATACAGATGATGATCCCTACTCCGTCTACCTCACAGAGGTGTTAAGAGGATCAAATGTGACAAGAATATAAGTACACTTTATGACTCGGAAAGCATTCTTCAAAGGTAATGTTCTTAGTCCAACTAGCACAGCCCAAGCACCCAAGATGCTGGCACTGTTGCAAAGCCCTAGATTCCAGAGCTGTTTTGGGCATCACCTGTAGTCCACTCTCCTGTCTGTCTAGAATGCTGGGCAAAAAAGAAGAAACAACCAACCACCAAAAACTTACATCATCCTAAAATCCCACACTTTGTATATTTCTCCACTGCTCAGAAAACTTAACTGAGCATCCACTTTCTTTTTTTCTTTTCTTTTCTTTTTTAAAGACAGAGTCTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGTGCAATTTAGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTGCCGAGTAGCTGTGATTACAGGTGCCCACCACCAAGCCCAGCTAATTTTTGTATTTTTAGTAGAAACGAGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTAAAGGCGTGAGCCACAGCACCTGGCCAGAGCTCCCACTTTCTTAAGGACTAACCCAAACTCCCTCTCCTGGAATCCTGAGGCAGTAAACAGTTAAGAGGAGTACCGACCAGACTTCAGATCTAGCTCTGCTAGCTGCTGTGTAATCTTGGACAAGTTACTTAACCTCCACTTCTGTTTCCTCTTCTGTAATCAAAGATAATAACAATACCTATTTAATGAGTCTGCTATAATGATTAAATTGGACAAAAAGTATAAAGTGCTCAGTAAACTCCTTGGCAAATAGTAATTACTCAATAAATGCTATTATAATTTGAGGTCTTTTTCAATCTGGCCCCCATCTTATCTCACCAAAATTATGTCACTTACTTCACTCGAAACAGTTTACTCCAGCCTAA
|
TGATTCCAACCCCAGGCAGACCCTGCCCAGACTGGAGGACAGGTCCTGGTTTGGGAGGTTGTGGCCCTGTATTATTTTGCATGGGCCGCTCTAGCATGGGCTGTTGGGGGCCCAGAAGGTTCTGGGTCATGGACCCAGGCTGATCCCCTAAGGAAACAGAGGGCTGAGCCAGCAGGTGGGGCACAGATGAGGCCTCAGAAGATGATCCACTGCCTAGCTGCCCATGGCTTCCTCCACCTGCTGTGTGGAGCAGGCTAACTTGCTGCTGCTGTTGTCCTGGAAGCCTCAGAGGTGGCTGCAGCTGCAGAGAGCTGGGCTGAGGCTGGGGCTGGGGTTGGACAAGCAGGAGTTGTGAGTCCCCAGAGAGTGAGGGCTTTACCTCTCCTGGTTCAGTGGCCATTGACTCAGGGGTAGTTCCTATTGCTAACGGCCCTCCCTGATGTGTAGAGGGCCCCTCAGTGGCCTCTGAAGAAACGGCTGGGTCTACGGTGTTTTGTTCCTTGCCCGTCAGGAGGAGGGTTGGACCCAGGGCTCCAGGGCTAGAAAAGTGTTGAAGAGGCTTTGCTGGCATGCCAGGGCCAAGTGCCACTTGCTGCTGCTGTTGTTGCTGAGGAGACAGTAAAGTTCGACTCTGGTTTAAAAGGCCCATCTGCTGCTGTTGCTGCTGCTGTTGAAACTGCTGCTGTTGTTGTTGCTGTTGCTGTTGTAGCTGCTGTTGCTGCTGTTGAAGCTGTTGCTGCTGCTGTTGTTGAAGCTGCTGCTGCTGTTGCTGCTGTTGAAGCTGTTGCTGCTGAAGTTGCTGTTGCTGTTGTAGCTGCTGCTGCTGCTGCTGCTGAAGTTGCTGTTGCTGTTGCAGCTGCTGCTGCTGCTGAAGCTGCTGTAAAGAGCCCATGGGCTGAGCGCTCAGTTTGGGCTGCCCACTGTGTGACATCAGACTCTGCTGAAGATGGGACAGCCCTGCCATGGACCCTTGCTGTTGGTGCTGTTGTTGCTGCTGCTGCTGCTGGGCTGTGACCAGCCTGTGTCCCATAAGGCCCTGACCCTGCTGTGCCAGCTGGGGGGAACTGAGCACCCGGGACTGGGTCATAAGCACCTGTCTGTGAGGGCCCTGGGGGCCCAAAGCTCCAGGGTGCTGCTGCTGCAACACAGCCACCTGGGCAGGGCCCAGCATGCCCTGGGGCCCCTGGGGTGGTTGAGGGGACAGCTGCTGGACCAGGAGGCCTTGGTGGCTGCTGGGAGGCATAAGGCCCTGGGGCTTGGGACCCAGAGCTTGGTTTGTCTGTACTCCAGGACCCTGCTGCTGTTGCTGCTGGATTGCCACCTGTCCTAGAAGGTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCAGTTTCTGGGCCAGCTGCATACGTTGCTGCTGCAGCTGCAGCTGCCTTTCCTGTAAAAGCCTTGAATCAGGTCCGAGGCTTCGAAGAGCAAGGTTGCCAGGGAAGAAGCCCCCTGAAGGGCCAGCCAGGGATCCAGCCCCACCAGAATGTTGCTGTTGCTGCTGTTGGGCCAGAGCTGTATTAAGGAAGGGGCCACCAGGCTGTCCAGGTAGTGCCATACCCCCAGGGGTCAGGCGAAGACCTCCGGCTTGCCCACCCGGAGGCCCCTGTGGTGGCTGCAGCCCATGGCCAGGGAGCAGCTGACCAGGGAGCTTGGTGAGCAGCCGGGGACTCTGGGAAGGGCTGAGAGCCAGCACAGCTGAGTGCTGTTGCTGTTGTTGCTGCTGCTGCTGCTGTTGTTGCTGCTGCTTGTTCCGATATTCTGCCATGAGATTAGTGTGCTCCTTCTGCTGTTTCCGGACCTAACATGGGAGGGTCGGAGAGGTCAGGCTGGGGCATGCTCCCCCCATGCCAACCCTCTTCCCTGCCTTCTGGGTGCTAGGCTGAAGTTTGCTTTCCCCCACCTGATCCAGTTGTTTCTGGATCTTGCTCTGCTGCTCTGTAACCAGCTTGAGCTTCTCAGCATCAGCTTCTGGGAACTCACGGCCAGCTTTTTTGGCAGTGCGCTGCTTGGCACACGGAGCCTTCCGGGACTTGCGGTGTACACCAATCTGCTCCTCTAGCACCTTCAGCTGCATCTGTAGGAGCTGCTGGGTATGGAACAGCCACTCCTCATACTGCCGCTGGTCAGCTTCATCTGGGAAAAGAAGCTGGGTGTCAGGACCTGCAAAAGGGTAATCCCAATCCCTCTTCCTCCATATGACCCAAACCACTCCCCTGCACCTTCCTCCCACGCCCCATACTCACTGATCACTCCCTGAGCAAAAGTGGGCGGGTTGGGACGAGGCTGGGAGGGATCACCAGCACTCCGCTCCTGCAATGAGAGAGGCTGCTAAAGGGTCATTGTTCCCTGCTAGGCCCTAAGAAGGGTGGCCCAGTGGCATAAGACACAAGTTCCTACTCCCACCTGACCACTTACCTGGCCACTCCCAGCTGCCACATGGTTCTGCAGATCACTGCTAGGTCCCCCCGAGAGCCTCTGGGCTAGCAGAGACACTTGCTGTCTGGAGTCCACCAAAGCACAGAAGATAAGTGTTGGCAATAAGAAAGTTGGAAAGCAAAGAGACGTGGGACAAGTAGGGAGGGGAGCCAAGAAGGGGTGTGACTGGGAAAGAAAAGGGCCAACCCCATTCCAGCCCTGAGTCTTACCTGTTCATACCAGGTGCCACCCCAATGCTGCCCTGAGCCATCACTTTCTTGATGCCTTTCAAAGCCACCATCTTGGCCTTTGCAATGGGATCAATGATATCTTCTGCAGCAAATTTGTCCAGGTCTGGAGAGGGGAGAACCAAGTGAGCTGGGCTATGGGGCCAATGCTCCAGTGAATATCTGCGATTCCCTTCAACATCCTGACTTCAACCACGCCAGGCAGAACAATGGCACGGCAAGGCAGAAAGACCACTGAATTAGGAGCCAGTCGGCCTGGGTGAATCAGCTCTATTCACAGGACATGTGGGCCTGTTTTTACTTGCACCGTGCTACAAAAAGGGGCTCCGTAAATATTTGTTGAGTCAACCTGTGTTATTTCACCTCAGTTTACCCTTTTATTTGATACAGATGATGATCCCTACTCCGTCTACCTCACAGAGGTGTTAAGAGGATCAAATGTGACAAGAATATAAGTACACTTTATGACTCGGAAAGCATTCTTCAAAGGTAATGTTCTTAGTCCAACTAGCACAGCCCAAGCACCCAAGATGCTGGCACTGTTGCAAAGCCCTAGATTCCAGAGCTGTTTTGGGCATCACCTGTAGTCCACTCTCCTGTCTGTCTAGAATGCTGGGCAAAAAAGAAGAAACAACCAACCACCAAAAACTTACATCATCCTAAAATCCCACACTTTGTATATTTCTCCACTGCTCAGAAAACTTAACTGAGCATCCACTTTCTTTTTTTCTTTTCTTTTCTTTTTTAAAGACAGAGTCTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGTGCAATTTAGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTGCCGAGTAGCTGTGATTACAGGTGCCCACCACCAAGCCCAGCTAATTTTTGTATTTTTAGTAGAAACGAGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTAAAGGCGTGAGCCACAGCACCTGGCCAGAGCTCCCACTTTCTTAAGGACTAACCCAAACTCCCTCTCCTGGAATCCTGAGGCAGTAAACAGTTAAGAGGAGTACCGACCAGACTTCAGATCTAGCTCTGCTAGCTGCTGTGTAATCTTGGACAAGTTACTTAACCTCCACTTCTGTTTCCTCTTCTGTAATCAAAGATAATAACAATACCTATTTAATGAGTCTGCTATAATGATTAAATTGGACAAAAAGTATAAAGTGCTCAGTAAACTCCTTGGCAAATAGTAATTACTCAATAAATGCTATTATAATTTGAGGTCTTTTTCAATCTGGCCCCCATCTTATCTCACCAAAATTATGTCACTTACTTCACTCGAAACAGTTTACTCCAGCCTAA
|
Task1_train_17577
|
Located on Chromosome 12, this mutation impacts KMT2D (lysine methyltransferase 2D). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
|
Pathogenic; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
|
TCCTGGTTTGGGAGGTTGTGGCCCTGTATTATTTTGCATGGGCCGCTCTAGCATGGGCTGTTGGGGGCCCAGAAGGTTCTGGGTCATGGACCCAGGCTGATCCCCTAAGGAAACAGAGGGCTGAGCCAGCAGGTGGGGCACAGATGAGGCCTCAGAAGATGATCCACTGCCTAGCTGCCCATGGCTTCCTCCACCTGCTGTGTGGAGCAGGCTAACTTGCTGCTGCTGTTGTCCTGGAAGCCTCAGAGGTGGCTGCAGCTGCAGAGAGCTGGGCTGAGGCTGGGGCTGGGGTTGGACAAGCAGGAGTTGTGAGTCCCCAGAGAGTGAGGGCTTTACCTCTCCTGGTTCAGTGGCCATTGACTCAGGGGTAGTTCCTATTGCTAACGGCCCTCCCTGATGTGTAGAGGGCCCCTCAGTGGCCTCTGAAGAAACGGCTGGGTCTACGGTGTTTTGTTCCTTGCCCGTCAGGAGGAGGGTTGGACCCAGGGCTCCAGGGCTAGAAAAGTGTTGAAGAGGCTTTGCTGGCATGCCAGGGCCAAGTGCCACTTGCTGCTGCTGTTGTTGCTGAGGAGACAGTAAAGTTCGACTCTGGTTTAAAAGGCCCATCTGCTGCTGTTGCTGCTGCTGTTGAAACTGCTGCTGTTGTTGTTGCTGTTGCTGTTGTAGCTGCTGTTGCTGCTGTTGAAGCTGTTGCTGCTGCTGTTGTTGAAGCTGCTGCTGCTGTTGCTGCTGTTGAAGCTGTTGCTGCTGAAGTTGCTGTTGCTGTTGTAGCTGCTGCTGCTGCTGCTGCTGAAGTTGCTGTTGCTGTTGCAGCTGCTGCTGCTGCTGAAGCTGCTGTAAAGAGCCCATGGGCTGAGCGCTCAGTTTGGGCTGCCCACTGTGTGACATCAGACTCTGCTGAAGATGGGACAGCCCTGCCATGGACCCTTGCTGTTGGTGCTGTTGTTGCTGCTGCTGCTGCTGGGCTGTGACCAGCCTGTGTCCCATAAGGCCCTGACCCTGCTGTGCCAGCTGGGGGGAACTGAGCACCCGGGACTGGGTCATAAGCACCTGTCTGTGAGGGCCCTGGGGGCCCAAAGCTCCAGGGTGCTGCTGCTGCAACACAGCCACCTGGGCAGGGCCCAGCATGCCCTGGGGCCCCTGGGGTGGTTGAGGGGACAGCTGCTGGACCAGGAGGCCTTGGTGGCTGCTGGGAGGCATAAGGCCCTGGGGCTTGGGACCCAGAGCTTGGTTTGTCTGTACTCCAGGACCCTGCTGCTGTTGCTGCTGGATTGCCACCTGTCCTAGAAGGTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCAGTTTCTGGGCCAGCTGCATACGTTGCTGCTGCAGCTGCAGCTGCCTTTCCTGTAAAAGCCTTGAATCAGGTCCGAGGCTTCGAAGAGCAAGGTTGCCAGGGAAGAAGCCCCCTGAAGGGCCAGCCAGGGATCCAGCCCCACCAGAATGTTGCTGTTGCTGCTGTTGGGCCAGAGCTGTATTAAGGAAGGGGCCACCAGGCTGTCCAGGTAGTGCCATACCCCCAGGGGTCAGGCGAAGACCTCCGGCTTGCCCACCCGGAGGCCCCTGTGGTGGCTGCAGCCCATGGCCAGGGAGCAGCTGACCAGGGAGCTTGGTGAGCAGCCGGGGACTCTGGGAAGGGCTGAGAGCCAGCACAGCTGAGTGCTGTTGCTGTTGTTGCTGCTGCTGCTGCTGTTGTTGCTGCTGCTTGTTCCGATATTCTGCCATGAGATTAGTGTGCTCCTTCTGCTGTTTCCGGACCTAACATGGGAGGGTCGGAGAGGTCAGGCTGGGGCATGCTCCCCCCATGCCAACCCTCTTCCCTGCCTTCTGGGTGCTAGGCTGAAGTTTGCTTTCCCCCACCTGATCCAGTTGTTTCTGGATCTTGCTCTGCTGCTCTGTAACCAGCTTGAGCTTCTCAGCATCAGCTTCTGGGAACTCACGGCCAGCTTTTTTGGCAGTGCGCTGCTTGGCACACAGAGCCTTCCGGGACTTGCGGTGTACACCAATCTGCTCCTCTAGCACCTTCAGCTGCATCTGTAGGAGCTGCTGGGTATGGAACAGCCACTCCTCATACTGCCGCTGGTCAGCTTCATCTGGGAAAAGAAGCTGGGTGTCAGGACCTGCAAAAGGGTAATCCCAATCCCTCTTCCTCCATATGACCCAAACCACTCCCCTGCACCTTCCTCCCACGCCCCATACTCACTGATCACTCCCTGAGCAAAAGTGGGCGGGTTGGGACGAGGCTGGGAGGGATCACCAGCACTCCGCTCCTGCAATGAGAGAGGCTGCTAAAGGGTCATTGTTCCCTGCTAGGCCCTAAGAAGGGTGGCCCAGTGGCATAAGACACAAGTTCCTACTCCCACCTGACCACTTACCTGGCCACTCCCAGCTGCCACATGGTTCTGCAGATCACTGCTAGGTCCCCCCGAGAGCCTCTGGGCTAGCAGAGACACTTGCTGTCTGGAGTCCACCAAAGCACAGAAGATAAGTGTTGGCAATAAGAAAGTTGGAAAGCAAAGAGACGTGGGACAAGTAGGGAGGGGAGCCAAGAAGGGGTGTGACTGGGAAAGAAAAGGGCCAACCCCATTCCAGCCCTGAGTCTTACCTGTTCATACCAGGTGCCACCCCAATGCTGCCCTGAGCCATCACTTTCTTGATGCCTTTCAAAGCCACCATCTTGGCCTTTGCAATGGGATCAATGATATCTTCTGCAGCAAATTTGTCCAGGTCTGGAGAGGGGAGAACCAAGTGAGCTGGGCTATGGGGCCAATGCTCCAGTGAATATCTGCGATTCCCTTCAACATCCTGACTTCAACCACGCCAGGCAGAACAATGGCACGGCAAGGCAGAAAGACCACTGAATTAGGAGCCAGTCGGCCTGGGTGAATCAGCTCTATTCACAGGACATGTGGGCCTGTTTTTACTTGCACCGTGCTACAAAAAGGGGCTCCGTAAATATTTGTTGAGTCAACCTGTGTTATTTCACCTCAGTTTACCCTTTTATTTGATACAGATGATGATCCCTACTCCGTCTACCTCACAGAGGTGTTAAGAGGATCAAATGTGACAAGAATATAAGTACACTTTATGACTCGGAAAGCATTCTTCAAAGGTAATGTTCTTAGTCCAACTAGCACAGCCCAAGCACCCAAGATGCTGGCACTGTTGCAAAGCCCTAGATTCCAGAGCTGTTTTGGGCATCACCTGTAGTCCACTCTCCTGTCTGTCTAGAATGCTGGGCAAAAAAGAAGAAACAACCAACCACCAAAAACTTACATCATCCTAAAATCCCACACTTTGTATATTTCTCCACTGCTCAGAAAACTTAACTGAGCATCCACTTTCTTTTTTTCTTTTCTTTTCTTTTTTAAAGACAGAGTCTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGTGCAATTTAGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTGCCGAGTAGCTGTGATTACAGGTGCCCACCACCAAGCCCAGCTAATTTTTGTATTTTTAGTAGAAACGAGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTAAAGGCGTGAGCCACAGCACCTGGCCAGAGCTCCCACTTTCTTAAGGACTAACCCAAACTCCCTCTCCTGGAATCCTGAGGCAGTAAACAGTTAAGAGGAGTACCGACCAGACTTCAGATCTAGCTCTGCTAGCTGCTGTGTAATCTTGGACAAGTTACTTAACCTCCACTTCTGTTTCCTCTTCTGTAATCAAAGATAATAACAATACCTATTTAATGAGTCTGCTATAATGATTAAATTGGACAAAAAGTATAAAGTGCTCAGTAAACTCCTTGGCAAATAGTAATTACTCAATAAATGCTATTATAATTTGAGGTCTTTTTCAATCTGGCCCCCATCTTATCTCACCAAAATTATGTCACTTACTTCACTCGAAACAGTTTACTCCAGCCTAACCAATTCACTCACTGTTCTTGAAACATCCCATAGGTTTTCCCA
|
TCCTGGTTTGGGAGGTTGTGGCCCTGTATTATTTTGCATGGGCCGCTCTAGCATGGGCTGTTGGGGGCCCAGAAGGTTCTGGGTCATGGACCCAGGCTGATCCCCTAAGGAAACAGAGGGCTGAGCCAGCAGGTGGGGCACAGATGAGGCCTCAGAAGATGATCCACTGCCTAGCTGCCCATGGCTTCCTCCACCTGCTGTGTGGAGCAGGCTAACTTGCTGCTGCTGTTGTCCTGGAAGCCTCAGAGGTGGCTGCAGCTGCAGAGAGCTGGGCTGAGGCTGGGGCTGGGGTTGGACAAGCAGGAGTTGTGAGTCCCCAGAGAGTGAGGGCTTTACCTCTCCTGGTTCAGTGGCCATTGACTCAGGGGTAGTTCCTATTGCTAACGGCCCTCCCTGATGTGTAGAGGGCCCCTCAGTGGCCTCTGAAGAAACGGCTGGGTCTACGGTGTTTTGTTCCTTGCCCGTCAGGAGGAGGGTTGGACCCAGGGCTCCAGGGCTAGAAAAGTGTTGAAGAGGCTTTGCTGGCATGCCAGGGCCAAGTGCCACTTGCTGCTGCTGTTGTTGCTGAGGAGACAGTAAAGTTCGACTCTGGTTTAAAAGGCCCATCTGCTGCTGTTGCTGCTGCTGTTGAAACTGCTGCTGTTGTTGTTGCTGTTGCTGTTGTAGCTGCTGTTGCTGCTGTTGAAGCTGTTGCTGCTGCTGTTGTTGAAGCTGCTGCTGCTGTTGCTGCTGTTGAAGCTGTTGCTGCTGAAGTTGCTGTTGCTGTTGTAGCTGCTGCTGCTGCTGCTGCTGAAGTTGCTGTTGCTGTTGCAGCTGCTGCTGCTGCTGAAGCTGCTGTAAAGAGCCCATGGGCTGAGCGCTCAGTTTGGGCTGCCCACTGTGTGACATCAGACTCTGCTGAAGATGGGACAGCCCTGCCATGGACCCTTGCTGTTGGTGCTGTTGTTGCTGCTGCTGCTGCTGGGCTGTGACCAGCCTGTGTCCCATAAGGCCCTGACCCTGCTGTGCCAGCTGGGGGGAACTGAGCACCCGGGACTGGGTCATAAGCACCTGTCTGTGAGGGCCCTGGGGGCCCAAAGCTCCAGGGTGCTGCTGCTGCAACACAGCCACCTGGGCAGGGCCCAGCATGCCCTGGGGCCCCTGGGGTGGTTGAGGGGACAGCTGCTGGACCAGGAGGCCTTGGTGGCTGCTGGGAGGCATAAGGCCCTGGGGCTTGGGACCCAGAGCTTGGTTTGTCTGTACTCCAGGACCCTGCTGCTGTTGCTGCTGGATTGCCACCTGTCCTAGAAGGTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCAGTTTCTGGGCCAGCTGCATACGTTGCTGCTGCAGCTGCAGCTGCCTTTCCTGTAAAAGCCTTGAATCAGGTCCGAGGCTTCGAAGAGCAAGGTTGCCAGGGAAGAAGCCCCCTGAAGGGCCAGCCAGGGATCCAGCCCCACCAGAATGTTGCTGTTGCTGCTGTTGGGCCAGAGCTGTATTAAGGAAGGGGCCACCAGGCTGTCCAGGTAGTGCCATACCCCCAGGGGTCAGGCGAAGACCTCCGGCTTGCCCACCCGGAGGCCCCTGTGGTGGCTGCAGCCCATGGCCAGGGAGCAGCTGACCAGGGAGCTTGGTGAGCAGCCGGGGACTCTGGGAAGGGCTGAGAGCCAGCACAGCTGAGTGCTGTTGCTGTTGTTGCTGCTGCTGCTGCTGTTGTTGCTGCTGCTTGTTCCGATATTCTGCCATGAGATTAGTGTGCTCCTTCTGCTGTTTCCGGACCTAACATGGGAGGGTCGGAGAGGTCAGGCTGGGGCATGCTCCCCCCATGCCAACCCTCTTCCCTGCCTTCTGGGTGCTAGGCTGAAGTTTGCTTTCCCCCACCTGATCCAGTTGTTTCTGGATCTTGCTCTGCTGCTCTGTAACCAGCTTGAGCTTCTCAGCATCAGCTTCTGGGAACTCACGGCCAGCTTTTTTGGCAGTGCGCTGCTTGGCACACAGAGCCTTCCGGGACTTGCGGTGTACACCAATCTGCTCCTCTACCACCTTCAGCTGCATCTGTAGGAGCTGCTGGGTATGGAACAGCCACTCCTCATACTGCCGCTGGTCAGCTTCATCTGGGAAAAGAAGCTGGGTGTCAGGACCTGCAAAAGGGTAATCCCAATCCCTCTTCCTCCATATGACCCAAACCACTCCCCTGCACCTTCCTCCCACGCCCCATACTCACTGATCACTCCCTGAGCAAAAGTGGGCGGGTTGGGACGAGGCTGGGAGGGATCACCAGCACTCCGCTCCTGCAATGAGAGAGGCTGCTAAAGGGTCATTGTTCCCTGCTAGGCCCTAAGAAGGGTGGCCCAGTGGCATAAGACACAAGTTCCTACTCCCACCTGACCACTTACCTGGCCACTCCCAGCTGCCACATGGTTCTGCAGATCACTGCTAGGTCCCCCCGAGAGCCTCTGGGCTAGCAGAGACACTTGCTGTCTGGAGTCCACCAAAGCACAGAAGATAAGTGTTGGCAATAAGAAAGTTGGAAAGCAAAGAGACGTGGGACAAGTAGGGAGGGGAGCCAAGAAGGGGTGTGACTGGGAAAGAAAAGGGCCAACCCCATTCCAGCCCTGAGTCTTACCTGTTCATACCAGGTGCCACCCCAATGCTGCCCTGAGCCATCACTTTCTTGATGCCTTTCAAAGCCACCATCTTGGCCTTTGCAATGGGATCAATGATATCTTCTGCAGCAAATTTGTCCAGGTCTGGAGAGGGGAGAACCAAGTGAGCTGGGCTATGGGGCCAATGCTCCAGTGAATATCTGCGATTCCCTTCAACATCCTGACTTCAACCACGCCAGGCAGAACAATGGCACGGCAAGGCAGAAAGACCACTGAATTAGGAGCCAGTCGGCCTGGGTGAATCAGCTCTATTCACAGGACATGTGGGCCTGTTTTTACTTGCACCGTGCTACAAAAAGGGGCTCCGTAAATATTTGTTGAGTCAACCTGTGTTATTTCACCTCAGTTTACCCTTTTATTTGATACAGATGATGATCCCTACTCCGTCTACCTCACAGAGGTGTTAAGAGGATCAAATGTGACAAGAATATAAGTACACTTTATGACTCGGAAAGCATTCTTCAAAGGTAATGTTCTTAGTCCAACTAGCACAGCCCAAGCACCCAAGATGCTGGCACTGTTGCAAAGCCCTAGATTCCAGAGCTGTTTTGGGCATCACCTGTAGTCCACTCTCCTGTCTGTCTAGAATGCTGGGCAAAAAAGAAGAAACAACCAACCACCAAAAACTTACATCATCCTAAAATCCCACACTTTGTATATTTCTCCACTGCTCAGAAAACTTAACTGAGCATCCACTTTCTTTTTTTCTTTTCTTTTCTTTTTTAAAGACAGAGTCTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGTGCAATTTAGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTGCCGAGTAGCTGTGATTACAGGTGCCCACCACCAAGCCCAGCTAATTTTTGTATTTTTAGTAGAAACGAGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTAAAGGCGTGAGCCACAGCACCTGGCCAGAGCTCCCACTTTCTTAAGGACTAACCCAAACTCCCTCTCCTGGAATCCTGAGGCAGTAAACAGTTAAGAGGAGTACCGACCAGACTTCAGATCTAGCTCTGCTAGCTGCTGTGTAATCTTGGACAAGTTACTTAACCTCCACTTCTGTTTCCTCTTCTGTAATCAAAGATAATAACAATACCTATTTAATGAGTCTGCTATAATGATTAAATTGGACAAAAAGTATAAAGTGCTCAGTAAACTCCTTGGCAAATAGTAATTACTCAATAAATGCTATTATAATTTGAGGTCTTTTTCAATCTGGCCCCCATCTTATCTCACCAAAATTATGTCACTTACTTCACTCGAAACAGTTTACTCCAGCCTAACCAATTCACTCACTGTTCTTGAAACATCCCATAGGTTTTCCCA
|
Task1_train_17578
|
Here’s a variant in KMT2D (lysine methyltransferase 2D) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; Lynch syndrome 5
|
CCCCACCACCCCACAACCCCATCCCAGGACCTCACCAGGCCGATATGGTTTACGCTTGCGTTTTTTGCTTTCCTCGGTCTCCTCTTTGCCAGGCTCCACATCAGGGCTGACGGGGCCCTCCAGTTTAATTTCGCACTCCATGTGCTCCACACCACCTGCGTATGGTGACAGAAGAGATGGAGGCAAATCAGAACTATAGGCCCTTTTAACCTTGTCATCCTGCCACTGAGAGAGCTGAATACCTTGCCTCAGAGCCACTTAGACGAGACAGCAGTGCTTAAGGGTAACTGAGTGGCAATGTAGCCCCCACCCAACATCCCACTCCCAGAGTCACGCTCCCCCTACTCTGCCGCTCCCTAAGATTCCCCAAGCTAACCTTCACCCTTGAGCAGCTCATCGGTGTCCAGGTCCCCATCCTTCTTGTCATCAGGGCCAAGGGCATCTGAGGGCTCAGAACCCTCCAATCCTGCCTCGCCTGGGAGGCCAAGCCGTCCTCGCCGTTGGCGCCGCTTGTGCAGTGGTGACATGGTCAGGTTACGCAGCAAGGCCATGCCAGTTTCTGTCAGCCACACACCTTCGAAGCGAAAGTACTGGGGCTCTGCATAAGAGGAAAGAGTATGTGATCCCTGGATGGAAGCCCCAGGGAAACCAGAACTGCAAGTTTCAACCTATGTCCTTAGCTGAGACAAAGGCAGTGACAAAAGTCCAGCTTAGGGTCTAAATGCTGAGGAGAACAGGCCACCAAGGGGCACTGGCTGAGGCCCGAGTTCTCTGTCAGTGACCCAGGGAGATTCAGAGAGGAACTGTAACTCAGAAGCCTGCCTTTGCTCATGATTAACCCTAGGTTCACTAAATAGATTCTCTTGCTGTCTGGGGCTATGAGGGCCCCTACTTGCTGAATGCCAGCACACAGTGTCCTAGATGCCAGCAGCAGTGCCATATCACGATGGAGATGTCCCTGGCCCCTTTCACTTAGGAAAAAGAGTTATGTTCTCAGCCGGGCGCGGTGCTCATGCTTGTAATCCCAGCCCTTTGGGAGGCCGAGGCTGGCAGATCACGAGGTCCGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAAAGCTTGCAATGTGCCAAGCTTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAGATCTGAAGACGAAATCCTAGCAGTGAAGAGACCATGGTGCCTGATGAAAGGAACATTGCCCGGGAAGCTGGAGACCTTGGTTCTAGGCATAACTTTGCCACTAACTTACTAGGTGACCTTGGGCAGGCCACTTAACTTCTCTGGGTCTGAGTTTCCTCCTCTTAAAATAAGGAGATGAAGCTAGGGGGTTGGAGCTAGACTAGATGATGTCCGACGTCTGGTCTGGCTTTGGCATTCAAAATTTCTGTGACTCACCTGGCTCTTTCACCTTCATGGGCACCAGCTCTGGAGGTGCAACAGGCGCTATGGAGAGAAGGACAAACGGAGGTGGCTGAGGTCCTGTCCCAAAGCAAGGTACCCCTGCTCTGACTCCTCCCCCTACCCAGCAGCTGGTACTCACCCACAGGCTTTACCACGTAGGGCTGGCAGGAGACACAGTCAAAGCCTTCATCGGCTGCCTGCTCCACATCGTCCTCTGTGAAGAGGCTCTCACAGCCTGCATGCATCCACCTGGAGAACAGAGACTGGAGGAAATAAGCTCAGGCAATGCGAGGCTGGCAACAGGGCCAAAGTGAGGAGAAAGGGATGTTCTCACCGTTCACAGTGGCGGCACTGGATTAGTAGGTCCTCTTCTACGTAAGGAGCATGACAGATAGGGCAGGTCACCAGGCTGGCACAGGGCCCACAGTGTGTGTAACTATTCTGCCATTCACAGTGGAAGCCAGGGGAAGCAGCCCCACACTGCATACAGGACACACACCTGATAGGAGCAGGAAAACAGAGCTTTAGCACCCAACCTACCCGAAGTACCCAGAAGTCCCCTCACCGGAAACCCAAGCCACCAGCCTGGCCTCCTAAACCCAGCCTCTGTCACATACTCAACATCATATCCACTTTAACATCTCAAGGCCCCAGGGCTCCACTGAAGATCCCAGTCTCCTTACCACTTGCACTTCCAGCCGCCCTTGGGGACGGTGAGCAGTGGGGGGTCCAGGCAGTATGTGTGGTAGCTAATATCACAGTCATCACAGAGCAGCAGGCGTGAGGGGTCGGAGGCCTGGCCACACACCTCACACACAATACACTCCACACAACGCCAGCCCTTGAGCAGCATCACCTTGGTGATCTGGGGCAGAAGATGGGAACTTCTCAGGGTGTGAGGTGGAAAAGAGGTAGAACTTCTTTTTATTTTTTTTTGGAGATGGAGTTTTGCTCTTGTTCCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCTCAGGTACAAGTGATTCTCTTGTCTCAGCCTCCCAAGTAGCTGAGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTTTGTATTTAGTAGAGTCAGAGTTTCACCATGTTAGTCAGGCTGGTCACCAACTCCTGACCTTAGGTGATCCACCCGCCTCACCCTCCCGAAGTAAAGTGCTGGGATTACAGGTGTGCGCCACCGTGCCCAGCCTAGGAGGTGGAACTTCTAAGGGTGAGGCTGGAGGCAGCCCAATGCAGAGACTAGGCCTCCATTTGAGCACACAGAGACTTAGGCAGAGCACCCTTGTCCCCAAAACAGTGACTCTAAACTTAGGCTCCCAATGATCTCTGCTGATCAGAGAAGAGCTGCACTAGCCACTGCCTCATTGTGAATAGAATAGCAATCTTTCCACTAGCCAAGCCCCTAAAAAGAGACTGTGGACCGAATTAGGTCCCCCAGTTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGATCTCACTCTGTTGCCCAGGCTGGAGTGGAGTACAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTTGCTGAGATTACAGGCACGCGCTACCACACTCAGCTAATTTTTGTTATTTTTTAGAAGAGACGGGGTTTCACCATGTTGACCACGATGGTCCTGAACTCCTAATCTCAGGTGATCCACCCACCTAGGCCTCCCAAAGTGCTGGGATTACAGGTGGGAGCCACCATGCCCAGCCATGTTGTTATTTTTTACGATGGACTGAATTATACCAGCAAGTCAGGGCCTACCACAAAGAAACTATCAAGTCCACCGTTGAGTTCCAAAGTACTTTTCCCCAAGAAAAGTTTGATAACCACTGGTGACTAATGAACAACCATGACCGATGGCCGCTTTAAGAGGTGGTATGGCCAGGACAAGGAACTAGGGTAAGAAATAACTGACCCTATTCCCCAGCCTACACCTCTTGGGCCCTGAACTCACCTTGCTGTTGACACAGTAAGGGTGATAGCACTGAGAGCACTGCGAACAGGCAAGGAGGTGGCCCTCTGCCCCCCGGCCAAAGCTGCCACATACCACACACATGTCCTGGGGAAACACAGAGAAACCCAAATGTCCAACTAGATCTCCCCATCCCACTCAGATCCAGTCTACTATGACGCTACAACACTGATTTGCGACCAGAGTCAGGAACCCCATCCCACAGCGTTAGGATGCTGTAAGCTACCAAGGGACCCTGCTCCTTCCTAGGATGCCTTACTCACCTAATCAGGTCACTTGAATTTATAAAGCCTGACATGGGTGAAGTTAAGAAGAAATTAAAGGAAGATAAGATGGAGTAAAGACTGGTCAGGTGAGAATCACATATGTGACAAAATTCTATCAGCTTCAAGATTATTCAAGTGAGGACACATGTAAGTTCCCTAAGCTATAAAGTTCAATAAGGCAAAGACTTTTTCACTGCTATTTCTCTAGCTCCTAG
|
CCCCACCACCCCACAACCCCATCCCAGGACCTCACCAGGCCGATATGGTTTACGCTTGCGTTTTTTGCTTTCCTCGGTCTCCTCTTTGCCAGGCTCCACATCAGGGCTGACGGGGCCCTCCAGTTTAATTTCGCACTCCATGTGCTCCACACCACCTGCGTATGGTGACAGAAGAGATGGAGGCAAATCAGAACTATAGGCCCTTTTAACCTTGTCATCCTGCCACTGAGAGAGCTGAATACCTTGCCTCAGAGCCACTTAGACGAGACAGCAGTGCTTAAGGGTAACTGAGTGGCAATGTAGCCCCCACCCAACATCCCACTCCCAGAGTCACGCTCCCCCTACTCTGCCGCTCCCTAAGATTCCCCAAGCTAACCTTCACCCTTGAGCAGCTCATCGGTGTCCAGGTCCCCATCCTTCTTGTCATCAGGGCCAAGGGCATCTGAGGGCTCAGAACCCTCCAATCCTGCCTCGCCTGGGAGGCCAAGCCGTCCTCGCCGTTGGCGCCGCTTGTGCAGTGGTGACATGGTCAGGTTACGCAGCAAGGCCATGCCAGTTTCTGTCAGCCACACACCTTCGAAGCGAAAGTACTGGGGCTCTGCATAAGAGGAAAGAGTATGTGATCCCTGGATGGAAGCCCCAGGGAAACCAGAACTGCAAGTTTCAACCTATGTCCTTAGCTGAGACAAAGGCAGTGACAAAAGTCCAGCTTAGGGTCTAAATGCTGAGGAGAACAGGCCACCAAGGGGCACTGGCTGAGGCCCGAGTTCTCTGTCAGTGACCCAGGGAGATTCAGAGAGGAACTGTAACTCAGAAGCCTGCCTTTGCTCATGATTAACCCTAGGTTCACTAAATAGATTCTCTTGCTGTCTGGGGCTATGAGGGCCCCTACTTGCTGAATGCCAGCACACAGTGTCCTAGATGCCAGCAGCAGTGCCATATCACGATGGAGATGTCCCTGGCCCCTTTCACTTAGGAAAAAGAGTTATGTTCTCAGCCGGGCGCGGTGCTCATGCTTGTAATCCCAGCCCTTTGGGAGGCCGAGGCTGGCAGATCACGAGGTCCGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAAAGCTTGCAATGTGCCAAGCTTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAGATCTGAAGACGAAATCCTAGCAGTGAAGAGACCATGGTGCCTGATGAAAGGAACATTGCCCGGGAAGCTGGAGACCTTGGTTCTAGGCATAACTTTGCCACTAACTTACTAGGTGACCTTGGGCAGGCCACTTAACTTCTCTGGGTCTGAGTTTCCTCCTCTTAAAATAAGGAGATGAAGCTAGGGGGTTGGAGCTAGACTAGATGATGTCCGACGTCTGGTCTGGCTTTGGCATTCAAAATTTCTGTGACTCACCTGGCTCTTTCACCTTCATGGGCACCAGCTCTGGAGGTGCAACAGGCGCTATGGAGAGAAGGACAAACGGAGGTGGCTGAGGTCCTGTCCCAAAGCAAGGTACCCCTGCTCTGACTCCTCCCCCTACCCAGCAGCTGGTACTCACCCACAGGCTTTACCACGTAGGGCTGGCAGGAGACACAGTCAAAGCCTTCATCGGCTGCCTGCTCCACATCGTCCTCTGTGAAGAGGCTCTCACAGCCTGCATGCATCCACCTGGAGAACAGAGACTGGAGGAAATAAGCTCAGGCAATGCGAGGCTGGCAACAGGGCCAAAGTGAGGAGAAAGGGATGTTCTCACCGTTCACAGTGGCGGCACTGGATTAGTAGGTCCTCTTCTACGTAAGGAGCATGACAGATAGGGCAGGTCACCAGGCTGGCACAGGGCCCACAGTGTGTGTAACTATTCTGCCATTCACAGTGGAAGCCAGGGGAAGCAGCCCCACACTGCATACAGCACACACACCTGATAGGAGCAGGAAAACAGAGCTTTAGCACCCAACCTACCCGAAGTACCCAGAAGTCCCCTCACCGGAAACCCAAGCCACCAGCCTGGCCTCCTAAACCCAGCCTCTGTCACATACTCAACATCATATCCACTTTAACATCTCAAGGCCCCAGGGCTCCACTGAAGATCCCAGTCTCCTTACCACTTGCACTTCCAGCCGCCCTTGGGGACGGTGAGCAGTGGGGGGTCCAGGCAGTATGTGTGGTAGCTAATATCACAGTCATCACAGAGCAGCAGGCGTGAGGGGTCGGAGGCCTGGCCACACACCTCACACACAATACACTCCACACAACGCCAGCCCTTGAGCAGCATCACCTTGGTGATCTGGGGCAGAAGATGGGAACTTCTCAGGGTGTGAGGTGGAAAAGAGGTAGAACTTCTTTTTATTTTTTTTTGGAGATGGAGTTTTGCTCTTGTTCCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCTCAGGTACAAGTGATTCTCTTGTCTCAGCCTCCCAAGTAGCTGAGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTTTGTATTTAGTAGAGTCAGAGTTTCACCATGTTAGTCAGGCTGGTCACCAACTCCTGACCTTAGGTGATCCACCCGCCTCACCCTCCCGAAGTAAAGTGCTGGGATTACAGGTGTGCGCCACCGTGCCCAGCCTAGGAGGTGGAACTTCTAAGGGTGAGGCTGGAGGCAGCCCAATGCAGAGACTAGGCCTCCATTTGAGCACACAGAGACTTAGGCAGAGCACCCTTGTCCCCAAAACAGTGACTCTAAACTTAGGCTCCCAATGATCTCTGCTGATCAGAGAAGAGCTGCACTAGCCACTGCCTCATTGTGAATAGAATAGCAATCTTTCCACTAGCCAAGCCCCTAAAAAGAGACTGTGGACCGAATTAGGTCCCCCAGTTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGATCTCACTCTGTTGCCCAGGCTGGAGTGGAGTACAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTTGCTGAGATTACAGGCACGCGCTACCACACTCAGCTAATTTTTGTTATTTTTTAGAAGAGACGGGGTTTCACCATGTTGACCACGATGGTCCTGAACTCCTAATCTCAGGTGATCCACCCACCTAGGCCTCCCAAAGTGCTGGGATTACAGGTGGGAGCCACCATGCCCAGCCATGTTGTTATTTTTTACGATGGACTGAATTATACCAGCAAGTCAGGGCCTACCACAAAGAAACTATCAAGTCCACCGTTGAGTTCCAAAGTACTTTTCCCCAAGAAAAGTTTGATAACCACTGGTGACTAATGAACAACCATGACCGATGGCCGCTTTAAGAGGTGGTATGGCCAGGACAAGGAACTAGGGTAAGAAATAACTGACCCTATTCCCCAGCCTACACCTCTTGGGCCCTGAACTCACCTTGCTGTTGACACAGTAAGGGTGATAGCACTGAGAGCACTGCGAACAGGCAAGGAGGTGGCCCTCTGCCCCCCGGCCAAAGCTGCCACATACCACACACATGTCCTGGGGAAACACAGAGAAACCCAAATGTCCAACTAGATCTCCCCATCCCACTCAGATCCAGTCTACTATGACGCTACAACACTGATTTGCGACCAGAGTCAGGAACCCCATCCCACAGCGTTAGGATGCTGTAAGCTACCAAGGGACCCTGCTCCTTCCTAGGATGCCTTACTCACCTAATCAGGTCACTTGAATTTATAAAGCCTGACATGGGTGAAGTTAAGAAGAAATTAAAGGAAGATAAGATGGAGTAAAGACTGGTCAGGTGAGAATCACATATGTGACAAAATTCTATCAGCTTCAAGATTATTCAAGTGAGGACACATGTAAGTTCCCTAAGCTATAAAGTTCAATAAGGCAAAGACTTTTTCACTGCTATTTCTCTAGCTCCTAG
|
Task1_train_17579
|
Here’s a variant in KMT2D (lysine methyltransferase 2D) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; Kabuki syndrome 1
|
CCCCACCACCCCACAACCCCATCCCAGGACCTCACCAGGCCGATATGGTTTACGCTTGCGTTTTTTGCTTTCCTCGGTCTCCTCTTTGCCAGGCTCCACATCAGGGCTGACGGGGCCCTCCAGTTTAATTTCGCACTCCATGTGCTCCACACCACCTGCGTATGGTGACAGAAGAGATGGAGGCAAATCAGAACTATAGGCCCTTTTAACCTTGTCATCCTGCCACTGAGAGAGCTGAATACCTTGCCTCAGAGCCACTTAGACGAGACAGCAGTGCTTAAGGGTAACTGAGTGGCAATGTAGCCCCCACCCAACATCCCACTCCCAGAGTCACGCTCCCCCTACTCTGCCGCTCCCTAAGATTCCCCAAGCTAACCTTCACCCTTGAGCAGCTCATCGGTGTCCAGGTCCCCATCCTTCTTGTCATCAGGGCCAAGGGCATCTGAGGGCTCAGAACCCTCCAATCCTGCCTCGCCTGGGAGGCCAAGCCGTCCTCGCCGTTGGCGCCGCTTGTGCAGTGGTGACATGGTCAGGTTACGCAGCAAGGCCATGCCAGTTTCTGTCAGCCACACACCTTCGAAGCGAAAGTACTGGGGCTCTGCATAAGAGGAAAGAGTATGTGATCCCTGGATGGAAGCCCCAGGGAAACCAGAACTGCAAGTTTCAACCTATGTCCTTAGCTGAGACAAAGGCAGTGACAAAAGTCCAGCTTAGGGTCTAAATGCTGAGGAGAACAGGCCACCAAGGGGCACTGGCTGAGGCCCGAGTTCTCTGTCAGTGACCCAGGGAGATTCAGAGAGGAACTGTAACTCAGAAGCCTGCCTTTGCTCATGATTAACCCTAGGTTCACTAAATAGATTCTCTTGCTGTCTGGGGCTATGAGGGCCCCTACTTGCTGAATGCCAGCACACAGTGTCCTAGATGCCAGCAGCAGTGCCATATCACGATGGAGATGTCCCTGGCCCCTTTCACTTAGGAAAAAGAGTTATGTTCTCAGCCGGGCGCGGTGCTCATGCTTGTAATCCCAGCCCTTTGGGAGGCCGAGGCTGGCAGATCACGAGGTCCGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAAAGCTTGCAATGTGCCAAGCTTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAGATCTGAAGACGAAATCCTAGCAGTGAAGAGACCATGGTGCCTGATGAAAGGAACATTGCCCGGGAAGCTGGAGACCTTGGTTCTAGGCATAACTTTGCCACTAACTTACTAGGTGACCTTGGGCAGGCCACTTAACTTCTCTGGGTCTGAGTTTCCTCCTCTTAAAATAAGGAGATGAAGCTAGGGGGTTGGAGCTAGACTAGATGATGTCCGACGTCTGGTCTGGCTTTGGCATTCAAAATTTCTGTGACTCACCTGGCTCTTTCACCTTCATGGGCACCAGCTCTGGAGGTGCAACAGGCGCTATGGAGAGAAGGACAAACGGAGGTGGCTGAGGTCCTGTCCCAAAGCAAGGTACCCCTGCTCTGACTCCTCCCCCTACCCAGCAGCTGGTACTCACCCACAGGCTTTACCACGTAGGGCTGGCAGGAGACACAGTCAAAGCCTTCATCGGCTGCCTGCTCCACATCGTCCTCTGTGAAGAGGCTCTCACAGCCTGCATGCATCCACCTGGAGAACAGAGACTGGAGGAAATAAGCTCAGGCAATGCGAGGCTGGCAACAGGGCCAAAGTGAGGAGAAAGGGATGTTCTCACCGTTCACAGTGGCGGCACTGGATTAGTAGGTCCTCTTCTACGTAAGGAGCATGACAGATAGGGCAGGTCACCAGGCTGGCACAGGGCCCACAGTGTGTGTAACTATTCTGCCATTCACAGTGGAAGCCAGGGGAAGCAGCCCCACACTGCATACAGGACACACACCTGATAGGAGCAGGAAAACAGAGCTTTAGCACCCAACCTACCCGAAGTACCCAGAAGTCCCCTCACCGGAAACCCAAGCCACCAGCCTGGCCTCCTAAACCCAGCCTCTGTCACATACTCAACATCATATCCACTTTAACATCTCAAGGCCCCAGGGCTCCACTGAAGATCCCAGTCTCCTTACCACTTGCACTTCCAGCCGCCCTTGGGGACGGTGAGCAGTGGGGGGTCCAGGCAGTATGTGTGGTAGCTAATATCACAGTCATCACAGAGCAGCAGGCGTGAGGGGTCGGAGGCCTGGCCACACACCTCACACACAATACACTCCACACAACGCCAGCCCTTGAGCAGCATCACCTTGGTGATCTGGGGCAGAAGATGGGAACTTCTCAGGGTGTGAGGTGGAAAAGAGGTAGAACTTCTTTTTATTTTTTTTTGGAGATGGAGTTTTGCTCTTGTTCCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCTCAGGTACAAGTGATTCTCTTGTCTCAGCCTCCCAAGTAGCTGAGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTTTGTATTTAGTAGAGTCAGAGTTTCACCATGTTAGTCAGGCTGGTCACCAACTCCTGACCTTAGGTGATCCACCCGCCTCACCCTCCCGAAGTAAAGTGCTGGGATTACAGGTGTGCGCCACCGTGCCCAGCCTAGGAGGTGGAACTTCTAAGGGTGAGGCTGGAGGCAGCCCAATGCAGAGACTAGGCCTCCATTTGAGCACACAGAGACTTAGGCAGAGCACCCTTGTCCCCAAAACAGTGACTCTAAACTTAGGCTCCCAATGATCTCTGCTGATCAGAGAAGAGCTGCACTAGCCACTGCCTCATTGTGAATAGAATAGCAATCTTTCCACTAGCCAAGCCCCTAAAAAGAGACTGTGGACCGAATTAGGTCCCCCAGTTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGATCTCACTCTGTTGCCCAGGCTGGAGTGGAGTACAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTTGCTGAGATTACAGGCACGCGCTACCACACTCAGCTAATTTTTGTTATTTTTTAGAAGAGACGGGGTTTCACCATGTTGACCACGATGGTCCTGAACTCCTAATCTCAGGTGATCCACCCACCTAGGCCTCCCAAAGTGCTGGGATTACAGGTGGGAGCCACCATGCCCAGCCATGTTGTTATTTTTTACGATGGACTGAATTATACCAGCAAGTCAGGGCCTACCACAAAGAAACTATCAAGTCCACCGTTGAGTTCCAAAGTACTTTTCCCCAAGAAAAGTTTGATAACCACTGGTGACTAATGAACAACCATGACCGATGGCCGCTTTAAGAGGTGGTATGGCCAGGACAAGGAACTAGGGTAAGAAATAACTGACCCTATTCCCCAGCCTACACCTCTTGGGCCCTGAACTCACCTTGCTGTTGACACAGTAAGGGTGATAGCACTGAGAGCACTGCGAACAGGCAAGGAGGTGGCCCTCTGCCCCCCGGCCAAAGCTGCCACATACCACACACATGTCCTGGGGAAACACAGAGAAACCCAAATGTCCAACTAGATCTCCCCATCCCACTCAGATCCAGTCTACTATGACGCTACAACACTGATTTGCGACCAGAGTCAGGAACCCCATCCCACAGCGTTAGGATGCTGTAAGCTACCAAGGGACCCTGCTCCTTCCTAGGATGCCTTACTCACCTAATCAGGTCACTTGAATTTATAAAGCCTGACATGGGTGAAGTTAAGAAGAAATTAAAGGAAGATAAGATGGAGTAAAGACTGGTCAGGTGAGAATCACATATGTGACAAAATTCTATCAGCTTCAAGATTATTCAAGTGAGGACACATGTAAGTTCCCTAAGCTATAAAGTTCAATAAGGCAAAGACTTTTTCACTGCTATTTCTCTAGCTCCTAG
|
CCCCACCACCCCACAACCCCATCCCAGGACCTCACCAGGCCGATATGGTTTACGCTTGCGTTTTTTGCTTTCCTCGGTCTCCTCTTTGCCAGGCTCCACATCAGGGCTGACGGGGCCCTCCAGTTTAATTTCGCACTCCATGTGCTCCACACCACCTGCGTATGGTGACAGAAGAGATGGAGGCAAATCAGAACTATAGGCCCTTTTAACCTTGTCATCCTGCCACTGAGAGAGCTGAATACCTTGCCTCAGAGCCACTTAGACGAGACAGCAGTGCTTAAGGGTAACTGAGTGGCAATGTAGCCCCCACCCAACATCCCACTCCCAGAGTCACGCTCCCCCTACTCTGCCGCTCCCTAAGATTCCCCAAGCTAACCTTCACCCTTGAGCAGCTCATCGGTGTCCAGGTCCCCATCCTTCTTGTCATCAGGGCCAAGGGCATCTGAGGGCTCAGAACCCTCCAATCCTGCCTCGCCTGGGAGGCCAAGCCGTCCTCGCCGTTGGCGCCGCTTGTGCAGTGGTGACATGGTCAGGTTACGCAGCAAGGCCATGCCAGTTTCTGTCAGCCACACACCTTCGAAGCGAAAGTACTGGGGCTCTGCATAAGAGGAAAGAGTATGTGATCCCTGGATGGAAGCCCCAGGGAAACCAGAACTGCAAGTTTCAACCTATGTCCTTAGCTGAGACAAAGGCAGTGACAAAAGTCCAGCTTAGGGTCTAAATGCTGAGGAGAACAGGCCACCAAGGGGCACTGGCTGAGGCCCGAGTTCTCTGTCAGTGACCCAGGGAGATTCAGAGAGGAACTGTAACTCAGAAGCCTGCCTTTGCTCATGATTAACCCTAGGTTCACTAAATAGATTCTCTTGCTGTCTGGGGCTATGAGGGCCCCTACTTGCTGAATGCCAGCACACAGTGTCCTAGATGCCAGCAGCAGTGCCATATCACGATGGAGATGTCCCTGGCCCCTTTCACTTAGGAAAAAGAGTTATGTTCTCAGCCGGGCGCGGTGCTCATGCTTGTAATCCCAGCCCTTTGGGAGGCCGAGGCTGGCAGATCACGAGGTCCGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAAAGCTTGCAATGTGCCAAGCTTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAGATCTGAAGACGAAATCCTAGCAGTGAAGAGACCATGGTGCCTGATGAAAGGAACATTGCCCGGGAAGCTGGAGACCTTGGTTCTAGGCATAACTTTGCCACTAACTTACTAGGTGACCTTGGGCAGGCCACTTAACTTCTCTGGGTCTGAGTTTCCTCCTCTTAAAATAAGGAGATGAAGCTAGGGGGTTGGAGCTAGACTAGATGATGTCCGACGTCTGGTCTGGCTTTGGCATTCAAAATTTCTGTGACTCACCTGGCTCTTTCACCTTCATGGGCACCAGCTCTGGAGGTGCAACAGGCGCTATGGAGAGAAGGACAAACGGAGGTGGCTGAGGTCCTGTCCCAAAGCAAGGTACCCCTGCTCTGACTCCTCCCCCTACCCAGCAGCTGGTACTCACCCACAGGCTTTACCACGTAGGGCTGGCAGGAGACACAGTCAAAGCCTTCATCGGCTGCCTGCTCCACATCGTCCTCTGTGAAGAGGCTCTCACAGCCTGCATGCATCCACCTGGAGAACAGAGACTGGAGGAAATAAGCTCAGGCAATGCGAGGCTGGCAACAGGGCCAAAGTGAGGAGAAAGGGATGTTCTCACCGTTCACAGTGGCGGCACTGGATTAGTAGGTCCTCTTCTACGTAAGGAGCATGACAGATAGGGCAGGTCACCAGGCTGGCACAGGGCCCACAGTGTGTGTAACTATTCTGCCATTCACAGTGGAAGCCAGGGGAAGCAGCCCCACACTGCATACAGCACACACACCTGATAGGAGCAGGAAAACAGAGCTTTAGCACCCAACCTACCCGAAGTACCCAGAAGTCCCCTCACCGGAAACCCAAGCCACCAGCCTGGCCTCCTAAACCCAGCCTCTGTCACATACTCAACATCATATCCACTTTAACATCTCAAGGCCCCAGGGCTCCACTGAAGATCCCAGTCTCCTTACCACTTGCACTTCCAGCCGCCCTTGGGGACGGTGAGCAGTGGGGGGTCCAGGCAGTATGTGTGGTAGCTAATATCACAGTCATCACAGAGCAGCAGGCGTGAGGGGTCGGAGGCCTGGCCACACACCTCACACACAATACACTCCACACAACGCCAGCCCTTGAGCAGCATCACCTTGGTGATCTGGGGCAGAAGATGGGAACTTCTCAGGGTGTGAGGTGGAAAAGAGGTAGAACTTCTTTTTATTTTTTTTTGGAGATGGAGTTTTGCTCTTGTTCCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCTCAGGTACAAGTGATTCTCTTGTCTCAGCCTCCCAAGTAGCTGAGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTTTGTATTTAGTAGAGTCAGAGTTTCACCATGTTAGTCAGGCTGGTCACCAACTCCTGACCTTAGGTGATCCACCCGCCTCACCCTCCCGAAGTAAAGTGCTGGGATTACAGGTGTGCGCCACCGTGCCCAGCCTAGGAGGTGGAACTTCTAAGGGTGAGGCTGGAGGCAGCCCAATGCAGAGACTAGGCCTCCATTTGAGCACACAGAGACTTAGGCAGAGCACCCTTGTCCCCAAAACAGTGACTCTAAACTTAGGCTCCCAATGATCTCTGCTGATCAGAGAAGAGCTGCACTAGCCACTGCCTCATTGTGAATAGAATAGCAATCTTTCCACTAGCCAAGCCCCTAAAAAGAGACTGTGGACCGAATTAGGTCCCCCAGTTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGATCTCACTCTGTTGCCCAGGCTGGAGTGGAGTACAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTTGCTGAGATTACAGGCACGCGCTACCACACTCAGCTAATTTTTGTTATTTTTTAGAAGAGACGGGGTTTCACCATGTTGACCACGATGGTCCTGAACTCCTAATCTCAGGTGATCCACCCACCTAGGCCTCCCAAAGTGCTGGGATTACAGGTGGGAGCCACCATGCCCAGCCATGTTGTTATTTTTTACGATGGACTGAATTATACCAGCAAGTCAGGGCCTACCACAAAGAAACTATCAAGTCCACCGTTGAGTTCCAAAGTACTTTTCCCCAAGAAAAGTTTGATAACCACTGGTGACTAATGAACAACCATGACCGATGGCCGCTTTAAGAGGTGGTATGGCCAGGACAAGGAACTAGGGTAAGAAATAACTGACCCTATTCCCCAGCCTACACCTCTTGGGCCCTGAACTCACCTTGCTGTTGACACAGTAAGGGTGATAGCACTGAGAGCACTGCGAACAGGCAAGGAGGTGGCCCTCTGCCCCCCGGCCAAAGCTGCCACATACCACACACATGTCCTGGGGAAACACAGAGAAACCCAAATGTCCAACTAGATCTCCCCATCCCACTCAGATCCAGTCTACTATGACGCTACAACACTGATTTGCGACCAGAGTCAGGAACCCCATCCCACAGCGTTAGGATGCTGTAAGCTACCAAGGGACCCTGCTCCTTCCTAGGATGCCTTACTCACCTAATCAGGTCACTTGAATTTATAAAGCCTGACATGGGTGAAGTTAAGAAGAAATTAAAGGAAGATAAGATGGAGTAAAGACTGGTCAGGTGAGAATCACATATGTGACAAAATTCTATCAGCTTCAAGATTATTCAAGTGAGGACACATGTAAGTTCCCTAAGCTATAAAGTTCAATAAGGCAAAGACTTTTTCACTGCTATTTCTCTAGCTCCTAG
|
Task1_train_17580
|
Gene KMT2D (lysine methyltransferase 2D), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; not provided
|
CACCCCACAACCCCATCCCAGGACCTCACCAGGCCGATATGGTTTACGCTTGCGTTTTTTGCTTTCCTCGGTCTCCTCTTTGCCAGGCTCCACATCAGGGCTGACGGGGCCCTCCAGTTTAATTTCGCACTCCATGTGCTCCACACCACCTGCGTATGGTGACAGAAGAGATGGAGGCAAATCAGAACTATAGGCCCTTTTAACCTTGTCATCCTGCCACTGAGAGAGCTGAATACCTTGCCTCAGAGCCACTTAGACGAGACAGCAGTGCTTAAGGGTAACTGAGTGGCAATGTAGCCCCCACCCAACATCCCACTCCCAGAGTCACGCTCCCCCTACTCTGCCGCTCCCTAAGATTCCCCAAGCTAACCTTCACCCTTGAGCAGCTCATCGGTGTCCAGGTCCCCATCCTTCTTGTCATCAGGGCCAAGGGCATCTGAGGGCTCAGAACCCTCCAATCCTGCCTCGCCTGGGAGGCCAAGCCGTCCTCGCCGTTGGCGCCGCTTGTGCAGTGGTGACATGGTCAGGTTACGCAGCAAGGCCATGCCAGTTTCTGTCAGCCACACACCTTCGAAGCGAAAGTACTGGGGCTCTGCATAAGAGGAAAGAGTATGTGATCCCTGGATGGAAGCCCCAGGGAAACCAGAACTGCAAGTTTCAACCTATGTCCTTAGCTGAGACAAAGGCAGTGACAAAAGTCCAGCTTAGGGTCTAAATGCTGAGGAGAACAGGCCACCAAGGGGCACTGGCTGAGGCCCGAGTTCTCTGTCAGTGACCCAGGGAGATTCAGAGAGGAACTGTAACTCAGAAGCCTGCCTTTGCTCATGATTAACCCTAGGTTCACTAAATAGATTCTCTTGCTGTCTGGGGCTATGAGGGCCCCTACTTGCTGAATGCCAGCACACAGTGTCCTAGATGCCAGCAGCAGTGCCATATCACGATGGAGATGTCCCTGGCCCCTTTCACTTAGGAAAAAGAGTTATGTTCTCAGCCGGGCGCGGTGCTCATGCTTGTAATCCCAGCCCTTTGGGAGGCCGAGGCTGGCAGATCACGAGGTCCGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAAAGCTTGCAATGTGCCAAGCTTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAGATCTGAAGACGAAATCCTAGCAGTGAAGAGACCATGGTGCCTGATGAAAGGAACATTGCCCGGGAAGCTGGAGACCTTGGTTCTAGGCATAACTTTGCCACTAACTTACTAGGTGACCTTGGGCAGGCCACTTAACTTCTCTGGGTCTGAGTTTCCTCCTCTTAAAATAAGGAGATGAAGCTAGGGGGTTGGAGCTAGACTAGATGATGTCCGACGTCTGGTCTGGCTTTGGCATTCAAAATTTCTGTGACTCACCTGGCTCTTTCACCTTCATGGGCACCAGCTCTGGAGGTGCAACAGGCGCTATGGAGAGAAGGACAAACGGAGGTGGCTGAGGTCCTGTCCCAAAGCAAGGTACCCCTGCTCTGACTCCTCCCCCTACCCAGCAGCTGGTACTCACCCACAGGCTTTACCACGTAGGGCTGGCAGGAGACACAGTCAAAGCCTTCATCGGCTGCCTGCTCCACATCGTCCTCTGTGAAGAGGCTCTCACAGCCTGCATGCATCCACCTGGAGAACAGAGACTGGAGGAAATAAGCTCAGGCAATGCGAGGCTGGCAACAGGGCCAAAGTGAGGAGAAAGGGATGTTCTCACCGTTCACAGTGGCGGCACTGGATTAGTAGGTCCTCTTCTACGTAAGGAGCATGACAGATAGGGCAGGTCACCAGGCTGGCACAGGGCCCACAGTGTGTGTAACTATTCTGCCATTCACAGTGGAAGCCAGGGGAAGCAGCCCCACACTGCATACAGGACACACACCTGATAGGAGCAGGAAAACAGAGCTTTAGCACCCAACCTACCCGAAGTACCCAGAAGTCCCCTCACCGGAAACCCAAGCCACCAGCCTGGCCTCCTAAACCCAGCCTCTGTCACATACTCAACATCATATCCACTTTAACATCTCAAGGCCCCAGGGCTCCACTGAAGATCCCAGTCTCCTTACCACTTGCACTTCCAGCCGCCCTTGGGGACGGTGAGCAGTGGGGGGTCCAGGCAGTATGTGTGGTAGCTAATATCACAGTCATCACAGAGCAGCAGGCGTGAGGGGTCGGAGGCCTGGCCACACACCTCACACACAATACACTCCACACAACGCCAGCCCTTGAGCAGCATCACCTTGGTGATCTGGGGCAGAAGATGGGAACTTCTCAGGGTGTGAGGTGGAAAAGAGGTAGAACTTCTTTTTATTTTTTTTTGGAGATGGAGTTTTGCTCTTGTTCCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCTCAGGTACAAGTGATTCTCTTGTCTCAGCCTCCCAAGTAGCTGAGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTTTGTATTTAGTAGAGTCAGAGTTTCACCATGTTAGTCAGGCTGGTCACCAACTCCTGACCTTAGGTGATCCACCCGCCTCACCCTCCCGAAGTAAAGTGCTGGGATTACAGGTGTGCGCCACCGTGCCCAGCCTAGGAGGTGGAACTTCTAAGGGTGAGGCTGGAGGCAGCCCAATGCAGAGACTAGGCCTCCATTTGAGCACACAGAGACTTAGGCAGAGCACCCTTGTCCCCAAAACAGTGACTCTAAACTTAGGCTCCCAATGATCTCTGCTGATCAGAGAAGAGCTGCACTAGCCACTGCCTCATTGTGAATAGAATAGCAATCTTTCCACTAGCCAAGCCCCTAAAAAGAGACTGTGGACCGAATTAGGTCCCCCAGTTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGATCTCACTCTGTTGCCCAGGCTGGAGTGGAGTACAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTTGCTGAGATTACAGGCACGCGCTACCACACTCAGCTAATTTTTGTTATTTTTTAGAAGAGACGGGGTTTCACCATGTTGACCACGATGGTCCTGAACTCCTAATCTCAGGTGATCCACCCACCTAGGCCTCCCAAAGTGCTGGGATTACAGGTGGGAGCCACCATGCCCAGCCATGTTGTTATTTTTTACGATGGACTGAATTATACCAGCAAGTCAGGGCCTACCACAAAGAAACTATCAAGTCCACCGTTGAGTTCCAAAGTACTTTTCCCCAAGAAAAGTTTGATAACCACTGGTGACTAATGAACAACCATGACCGATGGCCGCTTTAAGAGGTGGTATGGCCAGGACAAGGAACTAGGGTAAGAAATAACTGACCCTATTCCCCAGCCTACACCTCTTGGGCCCTGAACTCACCTTGCTGTTGACACAGTAAGGGTGATAGCACTGAGAGCACTGCGAACAGGCAAGGAGGTGGCCCTCTGCCCCCCGGCCAAAGCTGCCACATACCACACACATGTCCTGGGGAAACACAGAGAAACCCAAATGTCCAACTAGATCTCCCCATCCCACTCAGATCCAGTCTACTATGACGCTACAACACTGATTTGCGACCAGAGTCAGGAACCCCATCCCACAGCGTTAGGATGCTGTAAGCTACCAAGGGACCCTGCTCCTTCCTAGGATGCCTTACTCACCTAATCAGGTCACTTGAATTTATAAAGCCTGACATGGGTGAAGTTAAGAAGAAATTAAAGGAAGATAAGATGGAGTAAAGACTGGTCAGGTGAGAATCACATATGTGACAAAATTCTATCAGCTTCAAGATTATTCAAGTGAGGACACATGTAAGTTCCCTAAGCTATAAAGTTCAATAAGGCAAAGACTTTTTCACTGCTATTTCTCTAGCTCCTAGCTTAGT
|
CACCCCACAACCCCATCCCAGGACCTCACCAGGCCGATATGGTTTACGCTTGCGTTTTTTGCTTTCCTCGGTCTCCTCTTTGCCAGGCTCCACATCAGGGCTGACGGGGCCCTCCAGTTTAATTTCGCACTCCATGTGCTCCACACCACCTGCGTATGGTGACAGAAGAGATGGAGGCAAATCAGAACTATAGGCCCTTTTAACCTTGTCATCCTGCCACTGAGAGAGCTGAATACCTTGCCTCAGAGCCACTTAGACGAGACAGCAGTGCTTAAGGGTAACTGAGTGGCAATGTAGCCCCCACCCAACATCCCACTCCCAGAGTCACGCTCCCCCTACTCTGCCGCTCCCTAAGATTCCCCAAGCTAACCTTCACCCTTGAGCAGCTCATCGGTGTCCAGGTCCCCATCCTTCTTGTCATCAGGGCCAAGGGCATCTGAGGGCTCAGAACCCTCCAATCCTGCCTCGCCTGGGAGGCCAAGCCGTCCTCGCCGTTGGCGCCGCTTGTGCAGTGGTGACATGGTCAGGTTACGCAGCAAGGCCATGCCAGTTTCTGTCAGCCACACACCTTCGAAGCGAAAGTACTGGGGCTCTGCATAAGAGGAAAGAGTATGTGATCCCTGGATGGAAGCCCCAGGGAAACCAGAACTGCAAGTTTCAACCTATGTCCTTAGCTGAGACAAAGGCAGTGACAAAAGTCCAGCTTAGGGTCTAAATGCTGAGGAGAACAGGCCACCAAGGGGCACTGGCTGAGGCCCGAGTTCTCTGTCAGTGACCCAGGGAGATTCAGAGAGGAACTGTAACTCAGAAGCCTGCCTTTGCTCATGATTAACCCTAGGTTCACTAAATAGATTCTCTTGCTGTCTGGGGCTATGAGGGCCCCTACTTGCTGAATGCCAGCACACAGTGTCCTAGATGCCAGCAGCAGTGCCATATCACGATGGAGATGTCCCTGGCCCCTTTCACTTAGGAAAAAGAGTTATGTTCTCAGCCGGGCGCGGTGCTCATGCTTGTAATCCCAGCCCTTTGGGAGGCCGAGGCTGGCAGATCACGAGGTCCGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAAAGCTTGCAATGTGCCAAGCTTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAGATCTGAAGACGAAATCCTAGCAGTGAAGAGACCATGGTGCCTGATGAAAGGAACATTGCCCGGGAAGCTGGAGACCTTGGTTCTAGGCATAACTTTGCCACTAACTTACTAGGTGACCTTGGGCAGGCCACTTAACTTCTCTGGGTCTGAGTTTCCTCCTCTTAAAATAAGGAGATGAAGCTAGGGGGTTGGAGCTAGACTAGATGATGTCCGACGTCTGGTCTGGCTTTGGCATTCAAAATTTCTGTGACTCACCTGGCTCTTTCACCTTCATGGGCACCAGCTCTGGAGGTGCAACAGGCGCTATGGAGAGAAGGACAAACGGAGGTGGCTGAGGTCCTGTCCCAAAGCAAGGTACCCCTGCTCTGACTCCTCCCCCTACCCAGCAGCTGGTACTCACCCACAGGCTTTACCACGTAGGGCTGGCAGGAGACACAGTCAAAGCCTTCATCGGCTGCCTGCTCCACATCGTCCTCTGTGAAGAGGCTCTCACAGCCTGCATGCATCCACCTGGAGAACAGAGACTGGAGGAAATAAGCTCAGGCAATGCGAGGCTGGCAACAGGGCCAAAGTGAGGAGAAAGGGATGTTCTCACCGTTCACAGTGGCGGCACTGGATTAGTAGGTCCTCTTCTACGTAAGGAGCATGACAGATAGGGCAGGTCACCAGGCTGGCACAGGGCCCACAGTGTGTGTAACTATTCTGCCATTCACAGTGGAAGCCAGGGGAAGCAGCCCCACACTGCATACAGGACACAAACCTGATAGGAGCAGGAAAACAGAGCTTTAGCACCCAACCTACCCGAAGTACCCAGAAGTCCCCTCACCGGAAACCCAAGCCACCAGCCTGGCCTCCTAAACCCAGCCTCTGTCACATACTCAACATCATATCCACTTTAACATCTCAAGGCCCCAGGGCTCCACTGAAGATCCCAGTCTCCTTACCACTTGCACTTCCAGCCGCCCTTGGGGACGGTGAGCAGTGGGGGGTCCAGGCAGTATGTGTGGTAGCTAATATCACAGTCATCACAGAGCAGCAGGCGTGAGGGGTCGGAGGCCTGGCCACACACCTCACACACAATACACTCCACACAACGCCAGCCCTTGAGCAGCATCACCTTGGTGATCTGGGGCAGAAGATGGGAACTTCTCAGGGTGTGAGGTGGAAAAGAGGTAGAACTTCTTTTTATTTTTTTTTGGAGATGGAGTTTTGCTCTTGTTCCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCTCAGGTACAAGTGATTCTCTTGTCTCAGCCTCCCAAGTAGCTGAGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTTTGTATTTAGTAGAGTCAGAGTTTCACCATGTTAGTCAGGCTGGTCACCAACTCCTGACCTTAGGTGATCCACCCGCCTCACCCTCCCGAAGTAAAGTGCTGGGATTACAGGTGTGCGCCACCGTGCCCAGCCTAGGAGGTGGAACTTCTAAGGGTGAGGCTGGAGGCAGCCCAATGCAGAGACTAGGCCTCCATTTGAGCACACAGAGACTTAGGCAGAGCACCCTTGTCCCCAAAACAGTGACTCTAAACTTAGGCTCCCAATGATCTCTGCTGATCAGAGAAGAGCTGCACTAGCCACTGCCTCATTGTGAATAGAATAGCAATCTTTCCACTAGCCAAGCCCCTAAAAAGAGACTGTGGACCGAATTAGGTCCCCCAGTTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGATCTCACTCTGTTGCCCAGGCTGGAGTGGAGTACAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTTGCTGAGATTACAGGCACGCGCTACCACACTCAGCTAATTTTTGTTATTTTTTAGAAGAGACGGGGTTTCACCATGTTGACCACGATGGTCCTGAACTCCTAATCTCAGGTGATCCACCCACCTAGGCCTCCCAAAGTGCTGGGATTACAGGTGGGAGCCACCATGCCCAGCCATGTTGTTATTTTTTACGATGGACTGAATTATACCAGCAAGTCAGGGCCTACCACAAAGAAACTATCAAGTCCACCGTTGAGTTCCAAAGTACTTTTCCCCAAGAAAAGTTTGATAACCACTGGTGACTAATGAACAACCATGACCGATGGCCGCTTTAAGAGGTGGTATGGCCAGGACAAGGAACTAGGGTAAGAAATAACTGACCCTATTCCCCAGCCTACACCTCTTGGGCCCTGAACTCACCTTGCTGTTGACACAGTAAGGGTGATAGCACTGAGAGCACTGCGAACAGGCAAGGAGGTGGCCCTCTGCCCCCCGGCCAAAGCTGCCACATACCACACACATGTCCTGGGGAAACACAGAGAAACCCAAATGTCCAACTAGATCTCCCCATCCCACTCAGATCCAGTCTACTATGACGCTACAACACTGATTTGCGACCAGAGTCAGGAACCCCATCCCACAGCGTTAGGATGCTGTAAGCTACCAAGGGACCCTGCTCCTTCCTAGGATGCCTTACTCACCTAATCAGGTCACTTGAATTTATAAAGCCTGACATGGGTGAAGTTAAGAAGAAATTAAAGGAAGATAAGATGGAGTAAAGACTGGTCAGGTGAGAATCACATATGTGACAAAATTCTATCAGCTTCAAGATTATTCAAGTGAGGACACATGTAAGTTCCCTAAGCTATAAAGTTCAATAAGGCAAAGACTTTTTCACTGCTATTTCTCTAGCTCCTAGCTTAGT
|
Task1_train_17581
|
This variant affects the gene KMT2D (lysine methyltransferase 2D) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
|
Pathogenic; Kabuki syndrome 1
|
AGCCACTTAGACGAGACAGCAGTGCTTAAGGGTAACTGAGTGGCAATGTAGCCCCCACCCAACATCCCACTCCCAGAGTCACGCTCCCCCTACTCTGCCGCTCCCTAAGATTCCCCAAGCTAACCTTCACCCTTGAGCAGCTCATCGGTGTCCAGGTCCCCATCCTTCTTGTCATCAGGGCCAAGGGCATCTGAGGGCTCAGAACCCTCCAATCCTGCCTCGCCTGGGAGGCCAAGCCGTCCTCGCCGTTGGCGCCGCTTGTGCAGTGGTGACATGGTCAGGTTACGCAGCAAGGCCATGCCAGTTTCTGTCAGCCACACACCTTCGAAGCGAAAGTACTGGGGCTCTGCATAAGAGGAAAGAGTATGTGATCCCTGGATGGAAGCCCCAGGGAAACCAGAACTGCAAGTTTCAACCTATGTCCTTAGCTGAGACAAAGGCAGTGACAAAAGTCCAGCTTAGGGTCTAAATGCTGAGGAGAACAGGCCACCAAGGGGCACTGGCTGAGGCCCGAGTTCTCTGTCAGTGACCCAGGGAGATTCAGAGAGGAACTGTAACTCAGAAGCCTGCCTTTGCTCATGATTAACCCTAGGTTCACTAAATAGATTCTCTTGCTGTCTGGGGCTATGAGGGCCCCTACTTGCTGAATGCCAGCACACAGTGTCCTAGATGCCAGCAGCAGTGCCATATCACGATGGAGATGTCCCTGGCCCCTTTCACTTAGGAAAAAGAGTTATGTTCTCAGCCGGGCGCGGTGCTCATGCTTGTAATCCCAGCCCTTTGGGAGGCCGAGGCTGGCAGATCACGAGGTCCGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAAAGCTTGCAATGTGCCAAGCTTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAGATCTGAAGACGAAATCCTAGCAGTGAAGAGACCATGGTGCCTGATGAAAGGAACATTGCCCGGGAAGCTGGAGACCTTGGTTCTAGGCATAACTTTGCCACTAACTTACTAGGTGACCTTGGGCAGGCCACTTAACTTCTCTGGGTCTGAGTTTCCTCCTCTTAAAATAAGGAGATGAAGCTAGGGGGTTGGAGCTAGACTAGATGATGTCCGACGTCTGGTCTGGCTTTGGCATTCAAAATTTCTGTGACTCACCTGGCTCTTTCACCTTCATGGGCACCAGCTCTGGAGGTGCAACAGGCGCTATGGAGAGAAGGACAAACGGAGGTGGCTGAGGTCCTGTCCCAAAGCAAGGTACCCCTGCTCTGACTCCTCCCCCTACCCAGCAGCTGGTACTCACCCACAGGCTTTACCACGTAGGGCTGGCAGGAGACACAGTCAAAGCCTTCATCGGCTGCCTGCTCCACATCGTCCTCTGTGAAGAGGCTCTCACAGCCTGCATGCATCCACCTGGAGAACAGAGACTGGAGGAAATAAGCTCAGGCAATGCGAGGCTGGCAACAGGGCCAAAGTGAGGAGAAAGGGATGTTCTCACCGTTCACAGTGGCGGCACTGGATTAGTAGGTCCTCTTCTACGTAAGGAGCATGACAGATAGGGCAGGTCACCAGGCTGGCACAGGGCCCACAGTGTGTGTAACTATTCTGCCATTCACAGTGGAAGCCAGGGGAAGCAGCCCCACACTGCATACAGGACACACACCTGATAGGAGCAGGAAAACAGAGCTTTAGCACCCAACCTACCCGAAGTACCCAGAAGTCCCCTCACCGGAAACCCAAGCCACCAGCCTGGCCTCCTAAACCCAGCCTCTGTCACATACTCAACATCATATCCACTTTAACATCTCAAGGCCCCAGGGCTCCACTGAAGATCCCAGTCTCCTTACCACTTGCACTTCCAGCCGCCCTTGGGGACGGTGAGCAGTGGGGGGTCCAGGCAGTATGTGTGGTAGCTAATATCACAGTCATCACAGAGCAGCAGGCGTGAGGGGTCGGAGGCCTGGCCACACACCTCACACACAATACACTCCACACAACGCCAGCCCTTGAGCAGCATCACCTTGGTGATCTGGGGCAGAAGATGGGAACTTCTCAGGGTGTGAGGTGGAAAAGAGGTAGAACTTCTTTTTATTTTTTTTTGGAGATGGAGTTTTGCTCTTGTTCCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCTCAGGTACAAGTGATTCTCTTGTCTCAGCCTCCCAAGTAGCTGAGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTTTGTATTTAGTAGAGTCAGAGTTTCACCATGTTAGTCAGGCTGGTCACCAACTCCTGACCTTAGGTGATCCACCCGCCTCACCCTCCCGAAGTAAAGTGCTGGGATTACAGGTGTGCGCCACCGTGCCCAGCCTAGGAGGTGGAACTTCTAAGGGTGAGGCTGGAGGCAGCCCAATGCAGAGACTAGGCCTCCATTTGAGCACACAGAGACTTAGGCAGAGCACCCTTGTCCCCAAAACAGTGACTCTAAACTTAGGCTCCCAATGATCTCTGCTGATCAGAGAAGAGCTGCACTAGCCACTGCCTCATTGTGAATAGAATAGCAATCTTTCCACTAGCCAAGCCCCTAAAAAGAGACTGTGGACCGAATTAGGTCCCCCAGTTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGATCTCACTCTGTTGCCCAGGCTGGAGTGGAGTACAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTTGCTGAGATTACAGGCACGCGCTACCACACTCAGCTAATTTTTGTTATTTTTTAGAAGAGACGGGGTTTCACCATGTTGACCACGATGGTCCTGAACTCCTAATCTCAGGTGATCCACCCACCTAGGCCTCCCAAAGTGCTGGGATTACAGGTGGGAGCCACCATGCCCAGCCATGTTGTTATTTTTTACGATGGACTGAATTATACCAGCAAGTCAGGGCCTACCACAAAGAAACTATCAAGTCCACCGTTGAGTTCCAAAGTACTTTTCCCCAAGAAAAGTTTGATAACCACTGGTGACTAATGAACAACCATGACCGATGGCCGCTTTAAGAGGTGGTATGGCCAGGACAAGGAACTAGGGTAAGAAATAACTGACCCTATTCCCCAGCCTACACCTCTTGGGCCCTGAACTCACCTTGCTGTTGACACAGTAAGGGTGATAGCACTGAGAGCACTGCGAACAGGCAAGGAGGTGGCCCTCTGCCCCCCGGCCAAAGCTGCCACATACCACACACATGTCCTGGGGAAACACAGAGAAACCCAAATGTCCAACTAGATCTCCCCATCCCACTCAGATCCAGTCTACTATGACGCTACAACACTGATTTGCGACCAGAGTCAGGAACCCCATCCCACAGCGTTAGGATGCTGTAAGCTACCAAGGGACCCTGCTCCTTCCTAGGATGCCTTACTCACCTAATCAGGTCACTTGAATTTATAAAGCCTGACATGGGTGAAGTTAAGAAGAAATTAAAGGAAGATAAGATGGAGTAAAGACTGGTCAGGTGAGAATCACATATGTGACAAAATTCTATCAGCTTCAAGATTATTCAAGTGAGGACACATGTAAGTTCCCTAAGCTATAAAGTTCAATAAGGCAAAGACTTTTTCACTGCTATTTCTCTAGCTCCTAGCTTAGTGCCAAGCTCAGAAGAGATACTCAAGAGAAATGTGATGGATGGACAAACCAATGAATAACATGATTAGAATTCATGGTCTGTTTTCTCATTAGCTGGGTATCCCCAAAGTAGGTCCAGTTTTCCCATCTATCCTCTCACCAAACACACACATACACAATGTTCAGTGTGCCAGGTCTCACTGTATGGTACCTGCATTAGGACAAATTTGTCTGTGTTGGAGAAGAGAACCACGGTATTCTGCATGGT
|
AGCCACTTAGACGAGACAGCAGTGCTTAAGGGTAACTGAGTGGCAATGTAGCCCCCACCCAACATCCCACTCCCAGAGTCACGCTCCCCCTACTCTGCCGCTCCCTAAGATTCCCCAAGCTAACCTTCACCCTTGAGCAGCTCATCGGTGTCCAGGTCCCCATCCTTCTTGTCATCAGGGCCAAGGGCATCTGAGGGCTCAGAACCCTCCAATCCTGCCTCGCCTGGGAGGCCAAGCCGTCCTCGCCGTTGGCGCCGCTTGTGCAGTGGTGACATGGTCAGGTTACGCAGCAAGGCCATGCCAGTTTCTGTCAGCCACACACCTTCGAAGCGAAAGTACTGGGGCTCTGCATAAGAGGAAAGAGTATGTGATCCCTGGATGGAAGCCCCAGGGAAACCAGAACTGCAAGTTTCAACCTATGTCCTTAGCTGAGACAAAGGCAGTGACAAAAGTCCAGCTTAGGGTCTAAATGCTGAGGAGAACAGGCCACCAAGGGGCACTGGCTGAGGCCCGAGTTCTCTGTCAGTGACCCAGGGAGATTCAGAGAGGAACTGTAACTCAGAAGCCTGCCTTTGCTCATGATTAACCCTAGGTTCACTAAATAGATTCTCTTGCTGTCTGGGGCTATGAGGGCCCCTACTTGCTGAATGCCAGCACACAGTGTCCTAGATGCCAGCAGCAGTGCCATATCACGATGGAGATGTCCCTGGCCCCTTTCACTTAGGAAAAAGAGTTATGTTCTCAGCCGGGCGCGGTGCTCATGCTTGTAATCCCAGCCCTTTGGGAGGCCGAGGCTGGCAGATCACGAGGTCCGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAAAGCTTGCAATGTGCCAAGCTTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAGATCTGAAGACGAAATCCTAGCAGTGAAGAGACCATGGTGCCTGATGAAAGGAACATTGCCCGGGAAGCTGGAGACCTTGGTTCTAGGCATAACTTTGCCACTAACTTACTAGGTGACCTTGGGCAGGCCACTTAACTTCTCTGGGTCTGAGTTTCCTCCTCTTAAAATAAGGAGATGAAGCTAGGGGGTTGGAGCTAGACTAGATGATGTCCGACGTCTGGTCTGGCTTTGGCATTCAAAATTTCTGTGACTCACCTGGCTCTTTCACCTTCATGGGCACCAGCTCTGGAGGTGCAACAGGCGCTATGGAGAGAAGGACAAACGGAGGTGGCTGAGGTCCTGTCCCAAAGCAAGGTACCCCTGCTCTGACTCCTCCCCCTACCCAGCAGCTGGTACTCACCCACAGGCTTTACCACGTAGGGCTGGCAGGAGACACAGTCAAAGCCTTCATCGGCTGCCTGCTCCACATCGTCCTCTGTGAAGAGGCTCTCACAGCCTGCATGCATCCACCTGGAGAACAGAGACTGGAGGAAATAAGCTCAGGCAATGCGAGGCTGGCAACAGGGCCAAAGTGAGGAGAAAGGGATGTTCTCACCGTTCACAGTGGCGGCACTGGATTAGTAGGTCCTCTTCTACGTAAGGAGCATGACAGATAGGGCAGGTCACCAGGCTGGCACAGGGCCCACAGTGTGTGTAACTATTCTGCCATTCACAGTGGAAGCCAGGGGAAGCAGCCCCACACTGCATACAGGACACACACCTGATAGGAGCAGGAAAACAGAGCTTTAGCACCCAACCTACCCGAAGTACCCAGAAGTCCCCTCACCGGAAACCCAAGCCACCAGCCTGGCCTCCTAAACCCAGCCTCTGTCACATACTCAACATCATATCCACTTTAACATCTCAAGGCCCCAGGGCTCCACTGAAGATCCCAGTCTCCTTACCACTTGCACTTCCAGCCGCCCTTGGGGACGGTGAGCAGTGGGGGGTCCAGGCAGTATGTTTGGTAGCTAATATCACAGTCATCACAGAGCAGCAGGCGTGAGGGGTCGGAGGCCTGGCCACACACCTCACACACAATACACTCCACACAACGCCAGCCCTTGAGCAGCATCACCTTGGTGATCTGGGGCAGAAGATGGGAACTTCTCAGGGTGTGAGGTGGAAAAGAGGTAGAACTTCTTTTTATTTTTTTTTGGAGATGGAGTTTTGCTCTTGTTCCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCTCAGGTACAAGTGATTCTCTTGTCTCAGCCTCCCAAGTAGCTGAGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTTTGTATTTAGTAGAGTCAGAGTTTCACCATGTTAGTCAGGCTGGTCACCAACTCCTGACCTTAGGTGATCCACCCGCCTCACCCTCCCGAAGTAAAGTGCTGGGATTACAGGTGTGCGCCACCGTGCCCAGCCTAGGAGGTGGAACTTCTAAGGGTGAGGCTGGAGGCAGCCCAATGCAGAGACTAGGCCTCCATTTGAGCACACAGAGACTTAGGCAGAGCACCCTTGTCCCCAAAACAGTGACTCTAAACTTAGGCTCCCAATGATCTCTGCTGATCAGAGAAGAGCTGCACTAGCCACTGCCTCATTGTGAATAGAATAGCAATCTTTCCACTAGCCAAGCCCCTAAAAAGAGACTGTGGACCGAATTAGGTCCCCCAGTTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGATCTCACTCTGTTGCCCAGGCTGGAGTGGAGTACAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTTGCTGAGATTACAGGCACGCGCTACCACACTCAGCTAATTTTTGTTATTTTTTAGAAGAGACGGGGTTTCACCATGTTGACCACGATGGTCCTGAACTCCTAATCTCAGGTGATCCACCCACCTAGGCCTCCCAAAGTGCTGGGATTACAGGTGGGAGCCACCATGCCCAGCCATGTTGTTATTTTTTACGATGGACTGAATTATACCAGCAAGTCAGGGCCTACCACAAAGAAACTATCAAGTCCACCGTTGAGTTCCAAAGTACTTTTCCCCAAGAAAAGTTTGATAACCACTGGTGACTAATGAACAACCATGACCGATGGCCGCTTTAAGAGGTGGTATGGCCAGGACAAGGAACTAGGGTAAGAAATAACTGACCCTATTCCCCAGCCTACACCTCTTGGGCCCTGAACTCACCTTGCTGTTGACACAGTAAGGGTGATAGCACTGAGAGCACTGCGAACAGGCAAGGAGGTGGCCCTCTGCCCCCCGGCCAAAGCTGCCACATACCACACACATGTCCTGGGGAAACACAGAGAAACCCAAATGTCCAACTAGATCTCCCCATCCCACTCAGATCCAGTCTACTATGACGCTACAACACTGATTTGCGACCAGAGTCAGGAACCCCATCCCACAGCGTTAGGATGCTGTAAGCTACCAAGGGACCCTGCTCCTTCCTAGGATGCCTTACTCACCTAATCAGGTCACTTGAATTTATAAAGCCTGACATGGGTGAAGTTAAGAAGAAATTAAAGGAAGATAAGATGGAGTAAAGACTGGTCAGGTGAGAATCACATATGTGACAAAATTCTATCAGCTTCAAGATTATTCAAGTGAGGACACATGTAAGTTCCCTAAGCTATAAAGTTCAATAAGGCAAAGACTTTTTCACTGCTATTTCTCTAGCTCCTAGCTTAGTGCCAAGCTCAGAAGAGATACTCAAGAGAAATGTGATGGATGGACAAACCAATGAATAACATGATTAGAATTCATGGTCTGTTTTCTCATTAGCTGGGTATCCCCAAAGTAGGTCCAGTTTTCCCATCTATCCTCTCACCAAACACACACATACACAATGTTCAGTGTGCCAGGTCTCACTGTATGGTACCTGCATTAGGACAAATTTGTCTGTGTTGGAGAAGAGAACCACGGTATTCTGCATGGT
|
Task1_train_17582
|
A variant on Chromosome 12 in gene KMT2D (lysine methyltransferase 2D) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
|
Pathogenic; not provided
|
CCTACTCTGCCGCTCCCTAAGATTCCCCAAGCTAACCTTCACCCTTGAGCAGCTCATCGGTGTCCAGGTCCCCATCCTTCTTGTCATCAGGGCCAAGGGCATCTGAGGGCTCAGAACCCTCCAATCCTGCCTCGCCTGGGAGGCCAAGCCGTCCTCGCCGTTGGCGCCGCTTGTGCAGTGGTGACATGGTCAGGTTACGCAGCAAGGCCATGCCAGTTTCTGTCAGCCACACACCTTCGAAGCGAAAGTACTGGGGCTCTGCATAAGAGGAAAGAGTATGTGATCCCTGGATGGAAGCCCCAGGGAAACCAGAACTGCAAGTTTCAACCTATGTCCTTAGCTGAGACAAAGGCAGTGACAAAAGTCCAGCTTAGGGTCTAAATGCTGAGGAGAACAGGCCACCAAGGGGCACTGGCTGAGGCCCGAGTTCTCTGTCAGTGACCCAGGGAGATTCAGAGAGGAACTGTAACTCAGAAGCCTGCCTTTGCTCATGATTAACCCTAGGTTCACTAAATAGATTCTCTTGCTGTCTGGGGCTATGAGGGCCCCTACTTGCTGAATGCCAGCACACAGTGTCCTAGATGCCAGCAGCAGTGCCATATCACGATGGAGATGTCCCTGGCCCCTTTCACTTAGGAAAAAGAGTTATGTTCTCAGCCGGGCGCGGTGCTCATGCTTGTAATCCCAGCCCTTTGGGAGGCCGAGGCTGGCAGATCACGAGGTCCGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAAAGCTTGCAATGTGCCAAGCTTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAGATCTGAAGACGAAATCCTAGCAGTGAAGAGACCATGGTGCCTGATGAAAGGAACATTGCCCGGGAAGCTGGAGACCTTGGTTCTAGGCATAACTTTGCCACTAACTTACTAGGTGACCTTGGGCAGGCCACTTAACTTCTCTGGGTCTGAGTTTCCTCCTCTTAAAATAAGGAGATGAAGCTAGGGGGTTGGAGCTAGACTAGATGATGTCCGACGTCTGGTCTGGCTTTGGCATTCAAAATTTCTGTGACTCACCTGGCTCTTTCACCTTCATGGGCACCAGCTCTGGAGGTGCAACAGGCGCTATGGAGAGAAGGACAAACGGAGGTGGCTGAGGTCCTGTCCCAAAGCAAGGTACCCCTGCTCTGACTCCTCCCCCTACCCAGCAGCTGGTACTCACCCACAGGCTTTACCACGTAGGGCTGGCAGGAGACACAGTCAAAGCCTTCATCGGCTGCCTGCTCCACATCGTCCTCTGTGAAGAGGCTCTCACAGCCTGCATGCATCCACCTGGAGAACAGAGACTGGAGGAAATAAGCTCAGGCAATGCGAGGCTGGCAACAGGGCCAAAGTGAGGAGAAAGGGATGTTCTCACCGTTCACAGTGGCGGCACTGGATTAGTAGGTCCTCTTCTACGTAAGGAGCATGACAGATAGGGCAGGTCACCAGGCTGGCACAGGGCCCACAGTGTGTGTAACTATTCTGCCATTCACAGTGGAAGCCAGGGGAAGCAGCCCCACACTGCATACAGGACACACACCTGATAGGAGCAGGAAAACAGAGCTTTAGCACCCAACCTACCCGAAGTACCCAGAAGTCCCCTCACCGGAAACCCAAGCCACCAGCCTGGCCTCCTAAACCCAGCCTCTGTCACATACTCAACATCATATCCACTTTAACATCTCAAGGCCCCAGGGCTCCACTGAAGATCCCAGTCTCCTTACCACTTGCACTTCCAGCCGCCCTTGGGGACGGTGAGCAGTGGGGGGTCCAGGCAGTATGTGTGGTAGCTAATATCACAGTCATCACAGAGCAGCAGGCGTGAGGGGTCGGAGGCCTGGCCACACACCTCACACACAATACACTCCACACAACGCCAGCCCTTGAGCAGCATCACCTTGGTGATCTGGGGCAGAAGATGGGAACTTCTCAGGGTGTGAGGTGGAAAAGAGGTAGAACTTCTTTTTATTTTTTTTTGGAGATGGAGTTTTGCTCTTGTTCCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCTCAGGTACAAGTGATTCTCTTGTCTCAGCCTCCCAAGTAGCTGAGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTTTGTATTTAGTAGAGTCAGAGTTTCACCATGTTAGTCAGGCTGGTCACCAACTCCTGACCTTAGGTGATCCACCCGCCTCACCCTCCCGAAGTAAAGTGCTGGGATTACAGGTGTGCGCCACCGTGCCCAGCCTAGGAGGTGGAACTTCTAAGGGTGAGGCTGGAGGCAGCCCAATGCAGAGACTAGGCCTCCATTTGAGCACACAGAGACTTAGGCAGAGCACCCTTGTCCCCAAAACAGTGACTCTAAACTTAGGCTCCCAATGATCTCTGCTGATCAGAGAAGAGCTGCACTAGCCACTGCCTCATTGTGAATAGAATAGCAATCTTTCCACTAGCCAAGCCCCTAAAAAGAGACTGTGGACCGAATTAGGTCCCCCAGTTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGATCTCACTCTGTTGCCCAGGCTGGAGTGGAGTACAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTTGCTGAGATTACAGGCACGCGCTACCACACTCAGCTAATTTTTGTTATTTTTTAGAAGAGACGGGGTTTCACCATGTTGACCACGATGGTCCTGAACTCCTAATCTCAGGTGATCCACCCACCTAGGCCTCCCAAAGTGCTGGGATTACAGGTGGGAGCCACCATGCCCAGCCATGTTGTTATTTTTTACGATGGACTGAATTATACCAGCAAGTCAGGGCCTACCACAAAGAAACTATCAAGTCCACCGTTGAGTTCCAAAGTACTTTTCCCCAAGAAAAGTTTGATAACCACTGGTGACTAATGAACAACCATGACCGATGGCCGCTTTAAGAGGTGGTATGGCCAGGACAAGGAACTAGGGTAAGAAATAACTGACCCTATTCCCCAGCCTACACCTCTTGGGCCCTGAACTCACCTTGCTGTTGACACAGTAAGGGTGATAGCACTGAGAGCACTGCGAACAGGCAAGGAGGTGGCCCTCTGCCCCCCGGCCAAAGCTGCCACATACCACACACATGTCCTGGGGAAACACAGAGAAACCCAAATGTCCAACTAGATCTCCCCATCCCACTCAGATCCAGTCTACTATGACGCTACAACACTGATTTGCGACCAGAGTCAGGAACCCCATCCCACAGCGTTAGGATGCTGTAAGCTACCAAGGGACCCTGCTCCTTCCTAGGATGCCTTACTCACCTAATCAGGTCACTTGAATTTATAAAGCCTGACATGGGTGAAGTTAAGAAGAAATTAAAGGAAGATAAGATGGAGTAAAGACTGGTCAGGTGAGAATCACATATGTGACAAAATTCTATCAGCTTCAAGATTATTCAAGTGAGGACACATGTAAGTTCCCTAAGCTATAAAGTTCAATAAGGCAAAGACTTTTTCACTGCTATTTCTCTAGCTCCTAGCTTAGTGCCAAGCTCAGAAGAGATACTCAAGAGAAATGTGATGGATGGACAAACCAATGAATAACATGATTAGAATTCATGGTCTGTTTTCTCATTAGCTGGGTATCCCCAAAGTAGGTCCAGTTTTCCCATCTATCCTCTCACCAAACACACACATACACAATGTTCAGTGTGCCAGGTCTCACTGTATGGTACCTGCATTAGGACAAATTTGTCTGTGTTGGAGAAGAGAACCACGGTATTCTGCATGGTGTCATCATCTTCTTCCTCCTCCTCCTTACTGGGAGAGCTATCAATGTCAGCAACCTGATGGGCAGAGAGTTATGGAAAGTGAGGCAGA
|
CCTACTCTGCCGCTCCCTAAGATTCCCCAAGCTAACCTTCACCCTTGAGCAGCTCATCGGTGTCCAGGTCCCCATCCTTCTTGTCATCAGGGCCAAGGGCATCTGAGGGCTCAGAACCCTCCAATCCTGCCTCGCCTGGGAGGCCAAGCCGTCCTCGCCGTTGGCGCCGCTTGTGCAGTGGTGACATGGTCAGGTTACGCAGCAAGGCCATGCCAGTTTCTGTCAGCCACACACCTTCGAAGCGAAAGTACTGGGGCTCTGCATAAGAGGAAAGAGTATGTGATCCCTGGATGGAAGCCCCAGGGAAACCAGAACTGCAAGTTTCAACCTATGTCCTTAGCTGAGACAAAGGCAGTGACAAAAGTCCAGCTTAGGGTCTAAATGCTGAGGAGAACAGGCCACCAAGGGGCACTGGCTGAGGCCCGAGTTCTCTGTCAGTGACCCAGGGAGATTCAGAGAGGAACTGTAACTCAGAAGCCTGCCTTTGCTCATGATTAACCCTAGGTTCACTAAATAGATTCTCTTGCTGTCTGGGGCTATGAGGGCCCCTACTTGCTGAATGCCAGCACACAGTGTCCTAGATGCCAGCAGCAGTGCCATATCACGATGGAGATGTCCCTGGCCCCTTTCACTTAGGAAAAAGAGTTATGTTCTCAGCCGGGCGCGGTGCTCATGCTTGTAATCCCAGCCCTTTGGGAGGCCGAGGCTGGCAGATCACGAGGTCCGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAAAGCTTGCAATGTGCCAAGCTTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAGATCTGAAGACGAAATCCTAGCAGTGAAGAGACCATGGTGCCTGATGAAAGGAACATTGCCCGGGAAGCTGGAGACCTTGGTTCTAGGCATAACTTTGCCACTAACTTACTAGGTGACCTTGGGCAGGCCACTTAACTTCTCTGGGTCTGAGTTTCCTCCTCTTAAAATAAGGAGATGAAGCTAGGGGGTTGGAGCTAGACTAGATGATGTCCGACGTCTGGTCTGGCTTTGGCATTCAAAATTTCTGTGACTCACCTGGCTCTTTCACCTTCATGGGCACCAGCTCTGGAGGTGCAACAGGCGCTATGGAGAGAAGGACAAACGGAGGTGGCTGAGGTCCTGTCCCAAAGCAAGGTACCCCTGCTCTGACTCCTCCCCCTACCCAGCAGCTGGTACTCACCCACAGGCTTTACCACGTAGGGCTGGCAGGAGACACAGTCAAAGCCTTCATCGGCTGCCTGCTCCACATCGTCCTCTGTGAAGAGGCTCTCACAGCCTGCATGCATCCACCTGGAGAACAGAGACTGGAGGAAATAAGCTCAGGCAATGCGAGGCTGGCAACAGGGCCAAAGTGAGGAGAAAGGGATGTTCTCACCGTTCACAGTGGCGGCACTGGATTAGTAGGTCCTCTTCTACGTAAGGAGCATGACAGATAGGGCAGGTCACCAGGCTGGCACAGGGCCCACAGTGTGTGTAACTATTCTGCCATTCACAGTGGAAGCCAGGGGAAGCAGCCCCACACTGCATACAGGACACACACCTGATAGGAGCAGGAAAACAGAGCTTTAGCACCCAACCTACCCGAAGTACCCAGAAGTCCCCTCACCGGAAACCCAAGCCACCAGCCTGGCCTCCTAAACCCAGCCTCTGTCACATACTCAACATCATATCCACTTTAACATCTCAAGGCCCCAGGGCTCCACTGAAGATCCCAGTCTCCTTACCACTTGCACTTCCAGCCGCCCTTGGGGACGGTGAGCAGTGGGGGGTCCAGGCAGTATGTGTGGTAGCTAATATCACAGTCATCACAGAGCAGCAGGCGTGAGGGGTCGGAGGCCTGGCCACACACCTCACACACAATACACTCCACAGAACGCCAGCCCTTGAGCAGCATCACCTTGGTGATCTGGGGCAGAAGATGGGAACTTCTCAGGGTGTGAGGTGGAAAAGAGGTAGAACTTCTTTTTATTTTTTTTTGGAGATGGAGTTTTGCTCTTGTTCCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCTCAGGTACAAGTGATTCTCTTGTCTCAGCCTCCCAAGTAGCTGAGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTTTGTATTTAGTAGAGTCAGAGTTTCACCATGTTAGTCAGGCTGGTCACCAACTCCTGACCTTAGGTGATCCACCCGCCTCACCCTCCCGAAGTAAAGTGCTGGGATTACAGGTGTGCGCCACCGTGCCCAGCCTAGGAGGTGGAACTTCTAAGGGTGAGGCTGGAGGCAGCCCAATGCAGAGACTAGGCCTCCATTTGAGCACACAGAGACTTAGGCAGAGCACCCTTGTCCCCAAAACAGTGACTCTAAACTTAGGCTCCCAATGATCTCTGCTGATCAGAGAAGAGCTGCACTAGCCACTGCCTCATTGTGAATAGAATAGCAATCTTTCCACTAGCCAAGCCCCTAAAAAGAGACTGTGGACCGAATTAGGTCCCCCAGTTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGATCTCACTCTGTTGCCCAGGCTGGAGTGGAGTACAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTTGCTGAGATTACAGGCACGCGCTACCACACTCAGCTAATTTTTGTTATTTTTTAGAAGAGACGGGGTTTCACCATGTTGACCACGATGGTCCTGAACTCCTAATCTCAGGTGATCCACCCACCTAGGCCTCCCAAAGTGCTGGGATTACAGGTGGGAGCCACCATGCCCAGCCATGTTGTTATTTTTTACGATGGACTGAATTATACCAGCAAGTCAGGGCCTACCACAAAGAAACTATCAAGTCCACCGTTGAGTTCCAAAGTACTTTTCCCCAAGAAAAGTTTGATAACCACTGGTGACTAATGAACAACCATGACCGATGGCCGCTTTAAGAGGTGGTATGGCCAGGACAAGGAACTAGGGTAAGAAATAACTGACCCTATTCCCCAGCCTACACCTCTTGGGCCCTGAACTCACCTTGCTGTTGACACAGTAAGGGTGATAGCACTGAGAGCACTGCGAACAGGCAAGGAGGTGGCCCTCTGCCCCCCGGCCAAAGCTGCCACATACCACACACATGTCCTGGGGAAACACAGAGAAACCCAAATGTCCAACTAGATCTCCCCATCCCACTCAGATCCAGTCTACTATGACGCTACAACACTGATTTGCGACCAGAGTCAGGAACCCCATCCCACAGCGTTAGGATGCTGTAAGCTACCAAGGGACCCTGCTCCTTCCTAGGATGCCTTACTCACCTAATCAGGTCACTTGAATTTATAAAGCCTGACATGGGTGAAGTTAAGAAGAAATTAAAGGAAGATAAGATGGAGTAAAGACTGGTCAGGTGAGAATCACATATGTGACAAAATTCTATCAGCTTCAAGATTATTCAAGTGAGGACACATGTAAGTTCCCTAAGCTATAAAGTTCAATAAGGCAAAGACTTTTTCACTGCTATTTCTCTAGCTCCTAGCTTAGTGCCAAGCTCAGAAGAGATACTCAAGAGAAATGTGATGGATGGACAAACCAATGAATAACATGATTAGAATTCATGGTCTGTTTTCTCATTAGCTGGGTATCCCCAAAGTAGGTCCAGTTTTCCCATCTATCCTCTCACCAAACACACACATACACAATGTTCAGTGTGCCAGGTCTCACTGTATGGTACCTGCATTAGGACAAATTTGTCTGTGTTGGAGAAGAGAACCACGGTATTCTGCATGGTGTCATCATCTTCTTCCTCCTCCTCCTTACTGGGAGAGCTATCAATGTCAGCAACCTGATGGGCAGAGAGTTATGGAAAGTGAGGCAGA
|
Task1_train_17583
|
With a mutation on Chromosome 12 in gene KMT2D (lysine methyltransferase 2D), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
|
Pathogenic; not provided
|
TGTCCCAAAGCAAGGTACCCCTGCTCTGACTCCTCCCCCTACCCAGCAGCTGGTACTCACCCACAGGCTTTACCACGTAGGGCTGGCAGGAGACACAGTCAAAGCCTTCATCGGCTGCCTGCTCCACATCGTCCTCTGTGAAGAGGCTCTCACAGCCTGCATGCATCCACCTGGAGAACAGAGACTGGAGGAAATAAGCTCAGGCAATGCGAGGCTGGCAACAGGGCCAAAGTGAGGAGAAAGGGATGTTCTCACCGTTCACAGTGGCGGCACTGGATTAGTAGGTCCTCTTCTACGTAAGGAGCATGACAGATAGGGCAGGTCACCAGGCTGGCACAGGGCCCACAGTGTGTGTAACTATTCTGCCATTCACAGTGGAAGCCAGGGGAAGCAGCCCCACACTGCATACAGGACACACACCTGATAGGAGCAGGAAAACAGAGCTTTAGCACCCAACCTACCCGAAGTACCCAGAAGTCCCCTCACCGGAAACCCAAGCCACCAGCCTGGCCTCCTAAACCCAGCCTCTGTCACATACTCAACATCATATCCACTTTAACATCTCAAGGCCCCAGGGCTCCACTGAAGATCCCAGTCTCCTTACCACTTGCACTTCCAGCCGCCCTTGGGGACGGTGAGCAGTGGGGGGTCCAGGCAGTATGTGTGGTAGCTAATATCACAGTCATCACAGAGCAGCAGGCGTGAGGGGTCGGAGGCCTGGCCACACACCTCACACACAATACACTCCACACAACGCCAGCCCTTGAGCAGCATCACCTTGGTGATCTGGGGCAGAAGATGGGAACTTCTCAGGGTGTGAGGTGGAAAAGAGGTAGAACTTCTTTTTATTTTTTTTTGGAGATGGAGTTTTGCTCTTGTTCCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCTCAGGTACAAGTGATTCTCTTGTCTCAGCCTCCCAAGTAGCTGAGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTTTGTATTTAGTAGAGTCAGAGTTTCACCATGTTAGTCAGGCTGGTCACCAACTCCTGACCTTAGGTGATCCACCCGCCTCACCCTCCCGAAGTAAAGTGCTGGGATTACAGGTGTGCGCCACCGTGCCCAGCCTAGGAGGTGGAACTTCTAAGGGTGAGGCTGGAGGCAGCCCAATGCAGAGACTAGGCCTCCATTTGAGCACACAGAGACTTAGGCAGAGCACCCTTGTCCCCAAAACAGTGACTCTAAACTTAGGCTCCCAATGATCTCTGCTGATCAGAGAAGAGCTGCACTAGCCACTGCCTCATTGTGAATAGAATAGCAATCTTTCCACTAGCCAAGCCCCTAAAAAGAGACTGTGGACCGAATTAGGTCCCCCAGTTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGATCTCACTCTGTTGCCCAGGCTGGAGTGGAGTACAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTTGCTGAGATTACAGGCACGCGCTACCACACTCAGCTAATTTTTGTTATTTTTTAGAAGAGACGGGGTTTCACCATGTTGACCACGATGGTCCTGAACTCCTAATCTCAGGTGATCCACCCACCTAGGCCTCCCAAAGTGCTGGGATTACAGGTGGGAGCCACCATGCCCAGCCATGTTGTTATTTTTTACGATGGACTGAATTATACCAGCAAGTCAGGGCCTACCACAAAGAAACTATCAAGTCCACCGTTGAGTTCCAAAGTACTTTTCCCCAAGAAAAGTTTGATAACCACTGGTGACTAATGAACAACCATGACCGATGGCCGCTTTAAGAGGTGGTATGGCCAGGACAAGGAACTAGGGTAAGAAATAACTGACCCTATTCCCCAGCCTACACCTCTTGGGCCCTGAACTCACCTTGCTGTTGACACAGTAAGGGTGATAGCACTGAGAGCACTGCGAACAGGCAAGGAGGTGGCCCTCTGCCCCCCGGCCAAAGCTGCCACATACCACACACATGTCCTGGGGAAACACAGAGAAACCCAAATGTCCAACTAGATCTCCCCATCCCACTCAGATCCAGTCTACTATGACGCTACAACACTGATTTGCGACCAGAGTCAGGAACCCCATCCCACAGCGTTAGGATGCTGTAAGCTACCAAGGGACCCTGCTCCTTCCTAGGATGCCTTACTCACCTAATCAGGTCACTTGAATTTATAAAGCCTGACATGGGTGAAGTTAAGAAGAAATTAAAGGAAGATAAGATGGAGTAAAGACTGGTCAGGTGAGAATCACATATGTGACAAAATTCTATCAGCTTCAAGATTATTCAAGTGAGGACACATGTAAGTTCCCTAAGCTATAAAGTTCAATAAGGCAAAGACTTTTTCACTGCTATTTCTCTAGCTCCTAGCTTAGTGCCAAGCTCAGAAGAGATACTCAAGAGAAATGTGATGGATGGACAAACCAATGAATAACATGATTAGAATTCATGGTCTGTTTTCTCATTAGCTGGGTATCCCCAAAGTAGGTCCAGTTTTCCCATCTATCCTCTCACCAAACACACACATACACAATGTTCAGTGTGCCAGGTCTCACTGTATGGTACCTGCATTAGGACAAATTTGTCTGTGTTGGAGAAGAGAACCACGGTATTCTGCATGGTGTCATCATCTTCTTCCTCCTCCTCCTTACTGGGAGAGCTATCAATGTCAGCAACCTGATGGGCAGAGAGTTATGGAAAGTGAGGCAGATAAATCTGCCCCCACCAAGCTACTTTCCTCTTTGGTGTTGGGGGAAGAAAGTGTGAACCCTTGGTTAAGATGAAGGCCAAAAGCCAGGAATAACAGACAGAACACCCCAGCTCCCAAATTGAGCCTCAGTCTGATAGCAGAGATTTCAGAAAAACCTGCGGGCCAAGTGGACAGGAATTCAGACATAGCCAGACAGGCCCTAGACGAGCAGGCAGGTAGGCAAGCATGCAAGGGACTGGCAGGACTCAGAGGGTGCTAAAGCATGGTTGGGGGATGGGAGGAATAGGAGGCATCTCCTTACTACCAGAGTCTCAATGGAAGAAGCAGTTGACTTTAGCCGGGCCCGTCCTCTACCACGTCCTCCATGGGCTCCTCCACGAGGCCGGCGTCTTCCTGGGAAACTGCTGCTGCGACCCTGAGTGAAAGAAGGGGACAATGACAGGAGCATGTCAAGGGCTAGTGTGTTGGGTTTACACACTTGAACAGAAGAAGTGACAAACGGACAGAGTAAGACAGGTAATAAGCCCAGGAGTCCCACTCAGGGCAAGGGAAAAGGCCAAACTCCCAGATATCAACAAGCGCATAGCTCTAGCCCAAACCCATTCTTCCCCTCCCAAGAGTGGTTGAGATGGGCAAGGAGAAAAAACAATGGCTTGAAAGAACCAAGTTTCTGGTCCCAATTCTATTACTGAGTAACCATGAATCTGGGCAAGTTACTTGTCCCTTCTACGTATTAGTATTTTCTCCTTAATAACTGGAATAAAGGATCTCCAAGTCTAGGATTCACAAAGCAAGGTGGGAAAGTATCAGTGACACAGGACTGTACCTCTGACAGTGGGCTAACTCTAATCACATCCCGCAGCTAGATAGCCCCTCACCTGTTTGATGCGGGAACGGGCTGGGGAGCTGCGCCGCCGCCCCTTCTCCCCCTCAGCTTTGCCTCCGCTGATAGCTGTCCCAGCATCGCACAATAGTGAGTCATCAGTCTCTGGCAGTGAGTCAGTACAGAGCCGTAGGGAGCCCTCATCTCGGGCTGGACTAACATCCGTAGAGACCCCCAACTCCATGGACAGGGAGCCACCCCCCTCCGGGTCTGGAGAGCCCAGGAGGGGCTCTGAGCCAGGAAAACTGGCACTGGCATCACCCTGGCTCAGATTAGAGATCTCGTTAACGATGTCGGATTTGATGAGAGTGGGTGGTGTGGGGGCCACCGGTGCACGTGGCTCTTCCTGTTCTTCACATGGTGAGCCCTGCCCTGCTGTCTGCTTGCATTCGGGGTAGACCTCCATAGGGGTCA
|
TGTCCCAAAGCAAGGTACCCCTGCTCTGACTCCTCCCCCTACCCAGCAGCTGGTACTCACCCACAGGCTTTACCACGTAGGGCTGGCAGGAGACACAGTCAAAGCCTTCATCGGCTGCCTGCTCCACATCGTCCTCTGTGAAGAGGCTCTCACAGCCTGCATGCATCCACCTGGAGAACAGAGACTGGAGGAAATAAGCTCAGGCAATGCGAGGCTGGCAACAGGGCCAAAGTGAGGAGAAAGGGATGTTCTCACCGTTCACAGTGGCGGCACTGGATTAGTAGGTCCTCTTCTACGTAAGGAGCATGACAGATAGGGCAGGTCACCAGGCTGGCACAGGGCCCACAGTGTGTGTAACTATTCTGCCATTCACAGTGGAAGCCAGGGGAAGCAGCCCCACACTGCATACAGGACACACACCTGATAGGAGCAGGAAAACAGAGCTTTAGCACCCAACCTACCCGAAGTACCCAGAAGTCCCCTCACCGGAAACCCAAGCCACCAGCCTGGCCTCCTAAACCCAGCCTCTGTCACATACTCAACATCATATCCACTTTAACATCTCAAGGCCCCAGGGCTCCACTGAAGATCCCAGTCTCCTTACCACTTGCACTTCCAGCCGCCCTTGGGGACGGTGAGCAGTGGGGGGTCCAGGCAGTATGTGTGGTAGCTAATATCACAGTCATCACAGAGCAGCAGGCGTGAGGGGTCGGAGGCCTGGCCACACACCTCACACACAATACACTCCACACAACGCCAGCCCTTGAGCAGCATCACCTTGGTGATCTGGGGCAGAAGATGGGAACTTCTCAGGGTGTGAGGTGGAAAAGAGGTAGAACTTCTTTTTATTTTTTTTTGGAGATGGAGTTTTGCTCTTGTTCCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCTCAGGTACAAGTGATTCTCTTGTCTCAGCCTCCCAAGTAGCTGAGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTTTGTATTTAGTAGAGTCAGAGTTTCACCATGTTAGTCAGGCTGGTCACCAACTCCTGACCTTAGGTGATCCACCCGCCTCACCCTCCCGAAGTAAAGTGCTGGGATTACAGGTGTGCGCCACCGTGCCCAGCCTAGGAGGTGGAACTTCTAAGGGTGAGGCTGGAGGCAGCCCAATGCAGAGACTAGGCCTCCATTTGAGCACACAGAGACTTAGGCAGAGCACCCTTGTCCCCAAAACAGTGACTCTAAACTTAGGCTCCCAATGATCTCTGCTGATCAGAGAAGAGCTGCACTAGCCACTGCCTCATTGTGAATAGAATAGCAATCTTTCCACTAGCCAAGCCCCTAAAAAGAGACTGTGGACCGAATTAGGTCCCCCAGTTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGATCTCACTCTGTTGCCCAGGCTGGAGTGGAGTACAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTTGCTGAGATTACAGGCACGCGCTACCACACTCAGCTAATTTTTGTTATTTTTTAGAAGAGACGGGGTTTCACCATGTTGACCACGATGGTCCTGAACTCCTAATCTCAGGTGATCCACCCACCTAGGCCTCCCAAAGTGCTGGGATTACAGGTGGGAGCCACCATGCCCAGCCATGTTGTTATTTTTTACGATGGACTGAATTATACCAGCAAGTCAGGGCCTACCACAAAGAAACTATCAAGTCCACCGTTGAGTTCCAAAGTACTTTTCCCCAAGAAAAGTTTGATAACCACTGGTGACTAATGAACAACCATGACCGATGGCCGCTTTAAGAGGTGGTATGGCCAGGACAAGGAACTAGGGTAAGAAATAACTGACCCTATTCCCCAGCCTACACCTCTTGGGCCCTGAACTCACCTTGCTGTTGACACAGTAAGGGTGATAGCACTGAGAGCACTGCGAACAGGCAAGGAGGTGGCCCTCTGCCCCCCGGCCAAAGCTGCCATATACCACACACATGTCCTGGGGAAACACAGAGAAACCCAAATGTCCAACTAGATCTCCCCATCCCACTCAGATCCAGTCTACTATGACGCTACAACACTGATTTGCGACCAGAGTCAGGAACCCCATCCCACAGCGTTAGGATGCTGTAAGCTACCAAGGGACCCTGCTCCTTCCTAGGATGCCTTACTCACCTAATCAGGTCACTTGAATTTATAAAGCCTGACATGGGTGAAGTTAAGAAGAAATTAAAGGAAGATAAGATGGAGTAAAGACTGGTCAGGTGAGAATCACATATGTGACAAAATTCTATCAGCTTCAAGATTATTCAAGTGAGGACACATGTAAGTTCCCTAAGCTATAAAGTTCAATAAGGCAAAGACTTTTTCACTGCTATTTCTCTAGCTCCTAGCTTAGTGCCAAGCTCAGAAGAGATACTCAAGAGAAATGTGATGGATGGACAAACCAATGAATAACATGATTAGAATTCATGGTCTGTTTTCTCATTAGCTGGGTATCCCCAAAGTAGGTCCAGTTTTCCCATCTATCCTCTCACCAAACACACACATACACAATGTTCAGTGTGCCAGGTCTCACTGTATGGTACCTGCATTAGGACAAATTTGTCTGTGTTGGAGAAGAGAACCACGGTATTCTGCATGGTGTCATCATCTTCTTCCTCCTCCTCCTTACTGGGAGAGCTATCAATGTCAGCAACCTGATGGGCAGAGAGTTATGGAAAGTGAGGCAGATAAATCTGCCCCCACCAAGCTACTTTCCTCTTTGGTGTTGGGGGAAGAAAGTGTGAACCCTTGGTTAAGATGAAGGCCAAAAGCCAGGAATAACAGACAGAACACCCCAGCTCCCAAATTGAGCCTCAGTCTGATAGCAGAGATTTCAGAAAAACCTGCGGGCCAAGTGGACAGGAATTCAGACATAGCCAGACAGGCCCTAGACGAGCAGGCAGGTAGGCAAGCATGCAAGGGACTGGCAGGACTCAGAGGGTGCTAAAGCATGGTTGGGGGATGGGAGGAATAGGAGGCATCTCCTTACTACCAGAGTCTCAATGGAAGAAGCAGTTGACTTTAGCCGGGCCCGTCCTCTACCACGTCCTCCATGGGCTCCTCCACGAGGCCGGCGTCTTCCTGGGAAACTGCTGCTGCGACCCTGAGTGAAAGAAGGGGACAATGACAGGAGCATGTCAAGGGCTAGTGTGTTGGGTTTACACACTTGAACAGAAGAAGTGACAAACGGACAGAGTAAGACAGGTAATAAGCCCAGGAGTCCCACTCAGGGCAAGGGAAAAGGCCAAACTCCCAGATATCAACAAGCGCATAGCTCTAGCCCAAACCCATTCTTCCCCTCCCAAGAGTGGTTGAGATGGGCAAGGAGAAAAAACAATGGCTTGAAAGAACCAAGTTTCTGGTCCCAATTCTATTACTGAGTAACCATGAATCTGGGCAAGTTACTTGTCCCTTCTACGTATTAGTATTTTCTCCTTAATAACTGGAATAAAGGATCTCCAAGTCTAGGATTCACAAAGCAAGGTGGGAAAGTATCAGTGACACAGGACTGTACCTCTGACAGTGGGCTAACTCTAATCACATCCCGCAGCTAGATAGCCCCTCACCTGTTTGATGCGGGAACGGGCTGGGGAGCTGCGCCGCCGCCCCTTCTCCCCCTCAGCTTTGCCTCCGCTGATAGCTGTCCCAGCATCGCACAATAGTGAGTCATCAGTCTCTGGCAGTGAGTCAGTACAGAGCCGTAGGGAGCCCTCATCTCGGGCTGGACTAACATCCGTAGAGACCCCCAACTCCATGGACAGGGAGCCACCCCCCTCCGGGTCTGGAGAGCCCAGGAGGGGCTCTGAGCCAGGAAAACTGGCACTGGCATCACCCTGGCTCAGATTAGAGATCTCGTTAACGATGTCGGATTTGATGAGAGTGGGTGGTGTGGGGGCCACCGGTGCACGTGGCTCTTCCTGTTCTTCACATGGTGAGCCCTGCCCTGCTGTCTGCTTGCATTCGGGGTAGACCTCCATAGGGGTCA
|
Task1_train_17584
|
Mutation context: Chromosome 12, Gene KMT2D (lysine methyltransferase 2D). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
|
Pathogenic; Kabuki syndrome 1
|
GGGGGTCCAGGCAGTATGTGTGGTAGCTAATATCACAGTCATCACAGAGCAGCAGGCGTGAGGGGTCGGAGGCCTGGCCACACACCTCACACACAATACACTCCACACAACGCCAGCCCTTGAGCAGCATCACCTTGGTGATCTGGGGCAGAAGATGGGAACTTCTCAGGGTGTGAGGTGGAAAAGAGGTAGAACTTCTTTTTATTTTTTTTTGGAGATGGAGTTTTGCTCTTGTTCCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCTCAGGTACAAGTGATTCTCTTGTCTCAGCCTCCCAAGTAGCTGAGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTTTGTATTTAGTAGAGTCAGAGTTTCACCATGTTAGTCAGGCTGGTCACCAACTCCTGACCTTAGGTGATCCACCCGCCTCACCCTCCCGAAGTAAAGTGCTGGGATTACAGGTGTGCGCCACCGTGCCCAGCCTAGGAGGTGGAACTTCTAAGGGTGAGGCTGGAGGCAGCCCAATGCAGAGACTAGGCCTCCATTTGAGCACACAGAGACTTAGGCAGAGCACCCTTGTCCCCAAAACAGTGACTCTAAACTTAGGCTCCCAATGATCTCTGCTGATCAGAGAAGAGCTGCACTAGCCACTGCCTCATTGTGAATAGAATAGCAATCTTTCCACTAGCCAAGCCCCTAAAAAGAGACTGTGGACCGAATTAGGTCCCCCAGTTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGATCTCACTCTGTTGCCCAGGCTGGAGTGGAGTACAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTTGCTGAGATTACAGGCACGCGCTACCACACTCAGCTAATTTTTGTTATTTTTTAGAAGAGACGGGGTTTCACCATGTTGACCACGATGGTCCTGAACTCCTAATCTCAGGTGATCCACCCACCTAGGCCTCCCAAAGTGCTGGGATTACAGGTGGGAGCCACCATGCCCAGCCATGTTGTTATTTTTTACGATGGACTGAATTATACCAGCAAGTCAGGGCCTACCACAAAGAAACTATCAAGTCCACCGTTGAGTTCCAAAGTACTTTTCCCCAAGAAAAGTTTGATAACCACTGGTGACTAATGAACAACCATGACCGATGGCCGCTTTAAGAGGTGGTATGGCCAGGACAAGGAACTAGGGTAAGAAATAACTGACCCTATTCCCCAGCCTACACCTCTTGGGCCCTGAACTCACCTTGCTGTTGACACAGTAAGGGTGATAGCACTGAGAGCACTGCGAACAGGCAAGGAGGTGGCCCTCTGCCCCCCGGCCAAAGCTGCCACATACCACACACATGTCCTGGGGAAACACAGAGAAACCCAAATGTCCAACTAGATCTCCCCATCCCACTCAGATCCAGTCTACTATGACGCTACAACACTGATTTGCGACCAGAGTCAGGAACCCCATCCCACAGCGTTAGGATGCTGTAAGCTACCAAGGGACCCTGCTCCTTCCTAGGATGCCTTACTCACCTAATCAGGTCACTTGAATTTATAAAGCCTGACATGGGTGAAGTTAAGAAGAAATTAAAGGAAGATAAGATGGAGTAAAGACTGGTCAGGTGAGAATCACATATGTGACAAAATTCTATCAGCTTCAAGATTATTCAAGTGAGGACACATGTAAGTTCCCTAAGCTATAAAGTTCAATAAGGCAAAGACTTTTTCACTGCTATTTCTCTAGCTCCTAGCTTAGTGCCAAGCTCAGAAGAGATACTCAAGAGAAATGTGATGGATGGACAAACCAATGAATAACATGATTAGAATTCATGGTCTGTTTTCTCATTAGCTGGGTATCCCCAAAGTAGGTCCAGTTTTCCCATCTATCCTCTCACCAAACACACACATACACAATGTTCAGTGTGCCAGGTCTCACTGTATGGTACCTGCATTAGGACAAATTTGTCTGTGTTGGAGAAGAGAACCACGGTATTCTGCATGGTGTCATCATCTTCTTCCTCCTCCTCCTTACTGGGAGAGCTATCAATGTCAGCAACCTGATGGGCAGAGAGTTATGGAAAGTGAGGCAGATAAATCTGCCCCCACCAAGCTACTTTCCTCTTTGGTGTTGGGGGAAGAAAGTGTGAACCCTTGGTTAAGATGAAGGCCAAAAGCCAGGAATAACAGACAGAACACCCCAGCTCCCAAATTGAGCCTCAGTCTGATAGCAGAGATTTCAGAAAAACCTGCGGGCCAAGTGGACAGGAATTCAGACATAGCCAGACAGGCCCTAGACGAGCAGGCAGGTAGGCAAGCATGCAAGGGACTGGCAGGACTCAGAGGGTGCTAAAGCATGGTTGGGGGATGGGAGGAATAGGAGGCATCTCCTTACTACCAGAGTCTCAATGGAAGAAGCAGTTGACTTTAGCCGGGCCCGTCCTCTACCACGTCCTCCATGGGCTCCTCCACGAGGCCGGCGTCTTCCTGGGAAACTGCTGCTGCGACCCTGAGTGAAAGAAGGGGACAATGACAGGAGCATGTCAAGGGCTAGTGTGTTGGGTTTACACACTTGAACAGAAGAAGTGACAAACGGACAGAGTAAGACAGGTAATAAGCCCAGGAGTCCCACTCAGGGCAAGGGAAAAGGCCAAACTCCCAGATATCAACAAGCGCATAGCTCTAGCCCAAACCCATTCTTCCCCTCCCAAGAGTGGTTGAGATGGGCAAGGAGAAAAAACAATGGCTTGAAAGAACCAAGTTTCTGGTCCCAATTCTATTACTGAGTAACCATGAATCTGGGCAAGTTACTTGTCCCTTCTACGTATTAGTATTTTCTCCTTAATAACTGGAATAAAGGATCTCCAAGTCTAGGATTCACAAAGCAAGGTGGGAAAGTATCAGTGACACAGGACTGTACCTCTGACAGTGGGCTAACTCTAATCACATCCCGCAGCTAGATAGCCCCTCACCTGTTTGATGCGGGAACGGGCTGGGGAGCTGCGCCGCCGCCCCTTCTCCCCCTCAGCTTTGCCTCCGCTGATAGCTGTCCCAGCATCGCACAATAGTGAGTCATCAGTCTCTGGCAGTGAGTCAGTACAGAGCCGTAGGGAGCCCTCATCTCGGGCTGGACTAACATCCGTAGAGACCCCCAACTCCATGGACAGGGAGCCACCCCCCTCCGGGTCTGGAGAGCCCAGGAGGGGCTCTGAGCCAGGAAAACTGGCACTGGCATCACCCTGGCTCAGATTAGAGATCTCGTTAACGATGTCGGATTTGATGAGAGTGGGTGGTGTGGGGGCCACCGGTGCACGTGGCTCTTCCTGTTCTTCACATGGTGAGCCCTGCCCTGCTGTCTGCTTGCATTCGGGGTAGACCTCCATAGGGGTCACAGGGGCCAGCTCCTCGGGGTCCAGGAGCACAGGGGAGCCTTTAAGTTCACTAGCCAAACTGCCAGGGGTCTGTCCAGGCTCTGGCTGTGAACCCGGAGCATCAATCCCATCCAGAGGGGCTGTGTCTTCCCCTAGGCCAGAGAAGTCATCCAGGGCTGGGGCAGGGCTGGGGGCGGGGCAGGAAAGGTCCCCCATTGGGGAAGGGAGAGGACTGGTGGCACTGGGTTCCAAGGCTGGGCATTCAGGTTCTGAAACTTTCTCAGTCTCCATCTCGTGCAGCTCAGCCTCATCTGAGACCCCCACTACCTTCCCTATGGGACTCAACGGGGAGGGAACGGACAGTGGTAGGGCAGGAGGAGAGCACTGGGAAGGAGGGGAGTTTTGGGGAACCAGGGAATGCTGAAGGAGTGGCGAACACTGAGGAGGAAGGGGCTCCATCAGGATGGGAGAAGCCGGCCCCACTGGGGAGCCTGGAGATGGGGGAAGGATCATAGGGGGGACAGGCTCAGGGTCAGTGCAGTTAGCTTCTGGTGGAGGGCTGATGGGTGTCTCCAGGATGGGGGCAGCCAACGGTGACTCAGGGTCACTGTCCCCTTTGGCACCAAAGGGGTACTCTAACTCCCCCAAAGGAGACAGGGCCGGT
|
GGGGGTCCAGGCAGTATGTGTGGTAGCTAATATCACAGTCATCACAGAGCAGCAGGCGTGAGGGGTCGGAGGCCTGGCCACACACCTCACACACAATACACTCCACACAACGCCAGCCCTTGAGCAGCATCACCTTGGTGATCTGGGGCAGAAGATGGGAACTTCTCAGGGTGTGAGGTGGAAAAGAGGTAGAACTTCTTTTTATTTTTTTTTGGAGATGGAGTTTTGCTCTTGTTCCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCTCAGGTACAAGTGATTCTCTTGTCTCAGCCTCCCAAGTAGCTGAGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTTTGTATTTAGTAGAGTCAGAGTTTCACCATGTTAGTCAGGCTGGTCACCAACTCCTGACCTTAGGTGATCCACCCGCCTCACCCTCCCGAAGTAAAGTGCTGGGATTACAGGTGTGCGCCACCGTGCCCAGCCTAGGAGGTGGAACTTCTAAGGGTGAGGCTGGAGGCAGCCCAATGCAGAGACTAGGCCTCCATTTGAGCACACAGAGACTTAGGCAGAGCACCCTTGTCCCCAAAACAGTGACTCTAAACTTAGGCTCCCAATGATCTCTGCTGATCAGAGAAGAGCTGCACTAGCCACTGCCTCATTGTGAATAGAATAGCAATCTTTCCACTAGCCAAGCCCCTAAAAAGAGACTGTGGACCGAATTAGGTCCCCCAGTTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGATCTCACTCTGTTGCCCAGGCTGGAGTGGAGTACAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTTGCTGAGATTACAGGCACGCGCTACCACACTCAGCTAATTTTTGTTATTTTTTAGAAGAGACGGGGTTTCACCATGTTGACCACGATGGTCCTGAACTCCTAATCTCAGGTGATCCACCCACCTAGGCCTCCCAAAGTGCTGGGATTACAGGTGGGAGCCACCATGCCCAGCCATGTTGTTATTTTTTACGATGGACTGAATTATACCAGCAAGTCAGGGCCTACCACAAAGAAACTATCAAGTCCACCGTTGAGTTCCAAAGTACTTTTCCCCAAGAAAAGTTTGATAACCACTGGTGACTAATGAACAACCATGACCGATGGCCGCTTTAAGAGGTGGTATGGCCAGGACAAGGAACTAGGGTAAGAAATAACTGACCCTATTCCCCAGCCTACACCTCTTGGGCCCTGAACTCACCTTGCTGTTGACACAGTAAGGGTGATAGCACTGAGAGCACTGCGAACAGGCAAGGAGGTGGCCCTCTGCCCCCCGGCCAAAGCTGCCACATACCACACACATGTCCTGGGGAAACACAGAGAAACCCAAATGTCCAACTAGATCTCCCCATCCCACTCAGATCCAGTCTACTATGACGCTACAACACTGATTTGCGACCAGAGTCAGGAACCCCATCCCACAGCGTTAGGATGCTGTAAGCTACCAAGGGACCCTGCTCCTTCCTAGGATGCCTTACTCACCTAATCAGGTCACTTGAATTTATAAAGCCTGACATGGGTGAAGTTAAGAAGAAATTAAAGGAAGATAAGATGGAGTAAAGACTGGTCAGGTGAGAATCACATATGTGACAAAATTCTATCAGCTTCAAGATTATTCAAGTGAGGACACATGTAAGTTCCCTAAGCTATAAAGTTCAATAAGGCAAAGACTTTTTCACTGCTATTTCTCTAGCTCCTAGCTTAGTGCCAAGCTCAGAAGAGATACTCAAGAGAAATGTGATGGATGGACAAACCAATGAATAACATGATTAGAATTCATGGTCTGTTTTCTCATTAGCTGGGTATCCCCAAAGTAGGTCCAGTTTTCCCATCTATCCTCTCACCAAACACACACATACACAATGTTCAGTGTGCCAGGTCTCACTGTATGGTACCTGCATTAGGACAAATTTGTCTGTGTTGGAGAAGAGAAACACGGTATTCTGCATGGTGTCATCATCTTCTTCCTCCTCCTCCTTACTGGGAGAGCTATCAATGTCAGCAACCTGATGGGCAGAGAGTTATGGAAAGTGAGGCAGATAAATCTGCCCCCACCAAGCTACTTTCCTCTTTGGTGTTGGGGGAAGAAAGTGTGAACCCTTGGTTAAGATGAAGGCCAAAAGCCAGGAATAACAGACAGAACACCCCAGCTCCCAAATTGAGCCTCAGTCTGATAGCAGAGATTTCAGAAAAACCTGCGGGCCAAGTGGACAGGAATTCAGACATAGCCAGACAGGCCCTAGACGAGCAGGCAGGTAGGCAAGCATGCAAGGGACTGGCAGGACTCAGAGGGTGCTAAAGCATGGTTGGGGGATGGGAGGAATAGGAGGCATCTCCTTACTACCAGAGTCTCAATGGAAGAAGCAGTTGACTTTAGCCGGGCCCGTCCTCTACCACGTCCTCCATGGGCTCCTCCACGAGGCCGGCGTCTTCCTGGGAAACTGCTGCTGCGACCCTGAGTGAAAGAAGGGGACAATGACAGGAGCATGTCAAGGGCTAGTGTGTTGGGTTTACACACTTGAACAGAAGAAGTGACAAACGGACAGAGTAAGACAGGTAATAAGCCCAGGAGTCCCACTCAGGGCAAGGGAAAAGGCCAAACTCCCAGATATCAACAAGCGCATAGCTCTAGCCCAAACCCATTCTTCCCCTCCCAAGAGTGGTTGAGATGGGCAAGGAGAAAAAACAATGGCTTGAAAGAACCAAGTTTCTGGTCCCAATTCTATTACTGAGTAACCATGAATCTGGGCAAGTTACTTGTCCCTTCTACGTATTAGTATTTTCTCCTTAATAACTGGAATAAAGGATCTCCAAGTCTAGGATTCACAAAGCAAGGTGGGAAAGTATCAGTGACACAGGACTGTACCTCTGACAGTGGGCTAACTCTAATCACATCCCGCAGCTAGATAGCCCCTCACCTGTTTGATGCGGGAACGGGCTGGGGAGCTGCGCCGCCGCCCCTTCTCCCCCTCAGCTTTGCCTCCGCTGATAGCTGTCCCAGCATCGCACAATAGTGAGTCATCAGTCTCTGGCAGTGAGTCAGTACAGAGCCGTAGGGAGCCCTCATCTCGGGCTGGACTAACATCCGTAGAGACCCCCAACTCCATGGACAGGGAGCCACCCCCCTCCGGGTCTGGAGAGCCCAGGAGGGGCTCTGAGCCAGGAAAACTGGCACTGGCATCACCCTGGCTCAGATTAGAGATCTCGTTAACGATGTCGGATTTGATGAGAGTGGGTGGTGTGGGGGCCACCGGTGCACGTGGCTCTTCCTGTTCTTCACATGGTGAGCCCTGCCCTGCTGTCTGCTTGCATTCGGGGTAGACCTCCATAGGGGTCACAGGGGCCAGCTCCTCGGGGTCCAGGAGCACAGGGGAGCCTTTAAGTTCACTAGCCAAACTGCCAGGGGTCTGTCCAGGCTCTGGCTGTGAACCCGGAGCATCAATCCCATCCAGAGGGGCTGTGTCTTCCCCTAGGCCAGAGAAGTCATCCAGGGCTGGGGCAGGGCTGGGGGCGGGGCAGGAAAGGTCCCCCATTGGGGAAGGGAGAGGACTGGTGGCACTGGGTTCCAAGGCTGGGCATTCAGGTTCTGAAACTTTCTCAGTCTCCATCTCGTGCAGCTCAGCCTCATCTGAGACCCCCACTACCTTCCCTATGGGACTCAACGGGGAGGGAACGGACAGTGGTAGGGCAGGAGGAGAGCACTGGGAAGGAGGGGAGTTTTGGGGAACCAGGGAATGCTGAAGGAGTGGCGAACACTGAGGAGGAAGGGGCTCCATCAGGATGGGAGAAGCCGGCCCCACTGGGGAGCCTGGAGATGGGGGAAGGATCATAGGGGGGACAGGCTCAGGGTCAGTGCAGTTAGCTTCTGGTGGAGGGCTGATGGGTGTCTCCAGGATGGGGGCAGCCAACGGTGACTCAGGGTCACTGTCCCCTTTGGCACCAAAGGGGTACTCTAACTCCCCCAAAGGAGACAGGGCCGGT
|
Task1_train_17585
|
A variant was discovered in gene DHH (desert hedgehog signaling molecule), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful.
|
Pathogenic; 46,XY sex reversal 7
|
CTGCTTCCAAATATTGCCTTTATCAAGCACTACCTGGAACCCTATTATGCTTTCACCTCCTTGACAATTGAACTCAAGGGTCATGAGGGTGAGGGACATGAGGCGGCAACTTTGATACATAAGGAAGTCTGGGCTACTACAGGTATACTAGTAGGGCATCTGCAGCTTCCAGGAACCACAGAGCTAAACTAGGCAGGAGTGATGTAAAAGTGCCATGGTTTGGAACGACTTGCCCAAGGAGAAGCAGGTGGACTCCTTGACAGCTCCTGATATGTGTGACTCAGCGCTGGCAGCTTAACAAGGCCCACCCATCATCTCTCCCTCCTGGGAGCGGGCTCCTTTGCGCAGGTCCAGTACACCCTTCCATGTCTGAGACCGCTTGCCTTCCGTTTCAGAGAACCATATGCATAGGCCTAGAATTCTCTTGAAGGCCACCAGAGGGCGGTGTATAGCAGGGACCCTGTGCGATGGGAGCGCACAGCGGCTACTGGCAAGGGCGAGCTCCGGGTGGTACCAACAACCCCCGACTATTTCCTCCTCCCCGCCTCACCTCCACCCAAGACACTTCCCTTCTGGAGCAGCCCAGCTTCCTCCAGAGCTTCCATTCCTAACTCAGGGGCACCTGCCTGCCTGGATTCCAGGTGTCTACTGCGTTGGAACCTAAAGGTTCCAAAAACACCCAGGCTAGGGAAGTAGAGCTGGTGATAATGGGAGAGGGAGGAGGAGGCGCTGAAGACCAAGCCAGTAGAAACAACAATCAGGGCCAGCGATCAGGAGGGGAGCTCGGGTTGTAATGCTGATATGCCCTTGTTTAGGGAATCTACTTCCCCCACATACACCCAGGCTGAATCCATTCTCTCTCTCTGAGCAGCCCTTCAGTAAGGAAATATTCCAGCCTCTTACTGTGCCCCCCTTCCTTTTTCAGGCCATGACTATGCGACGATTGCAAATTATTACCCAGGTTTCCCATGGATCATCAGTTGGCCCAGTGGCATATCAGAAAAAACATCCACCCCATCCAGGCCCTGCCACCAAGGTAGGATGGGGACCAGGACTACTGGCTAACAATAGGGGACTAGATGCTTTGAGTATCAGTACTCATAGGGGCCTGAGCCCCTGCTGGAGCCCCTATAAACAGAGAAGAGGTGTGCACAGTCTTTCCCACCTGGGACAACCCTGGACCCTTCAGCCGCAGGAGCGAAATGCTGGTCCTCTCTGGATGGGAGACGGAAACAGCAGCCTGGAAAAGGGTACGACTCTTGTGGGCTCTGTTGCTTATGGGTTGGGATGCCCCTTCTGAAGGGAGGAAAAGGGTCCCAAAGACCCTGCTGAGGAAGGAGGGGGAGCCGGAAGTAAGCTGTTAACTCAGGTTGGCCACCTTTATCCCCCTCTCTGGAGGTGAATCACCCTCTGAATGGAAGTGTTTTCCAGTAAGCTCCTGAAAGCCTTCCCTTTATTAGCCCACCTTGCAGGAAAACGTCAGATGTCAGACTGGCTGGCTGTGTCAGACAGTGTTAATGCCATGCCCCAGCCCCTCACCTTGGCAAGCTGGGCAAGGGAATCATTATATTACAATTTATAAATAAGAAATAAAATAAAATTATCGGGTGGGGCTGAAGCACTGGGGGAGAGGCTAAATAGTCCTCTTTAAGGAGTGCGCACCATCAGCCCTACCTACCTAGGACCCGGTATCACCTCCTCTCAGTACGAGGTTGCCCCTAAGCCAGGCATAGCCCCATTTTCTCCCTCCCCCTCCCTCTCCCTCCCTTCCAGTCGGCATCGTCTGCTGCCCACAGCCCCATATCTCAGCCAGCAGGCCCTCGTTTCCTCGGGCGCTTCGAGGTTTCTATGCCTGGGACGCTCAGCCCAGTAGCTCCTCCGCTAAGCGGTAGAGGAGCCGAGAGTACCAATGCATGCCAGTCGGCTGGACGGCCCCGCCGGGGAGCAGCGCCCCTAGCGCGTGCAGCAGTCTCAAGGGGGCAAAAGCGCGGTGCGCCCACTGGTGACTCTCCAGAACCGCGTAGCAAGAGGCCAGGACATCGTTCACCAGCAGCGTCCCGTGCGCGGTGAGCGGCGCGAACACGCCCACGGCTTCCTCCCGCGCCACACGGGCCACGCGCGCTGGCCGAAGCGCATCCCCGCCGGGCGCCAGCACCGAGTCCCCAGCGCGTAGCCGGCGCGCGAACACCGGTGCAAAGTCGCCTGGCGCGGGCGCCGGCCCTCGAGCGGCAAACACCAGGTGCCAGGGCGTGAGCAACAGTTTGCGTGGAGGCCACTCGGTCTCCACAGCCACAAATGAAGCCCGGCGCTGCAAGTCCCGGTCCAGGAAGAGCAGCACCGGCGTGGGCACCACCCGGCCTGACGCATCGGCCGCCAAAACCCAGTCTCCGCGGTGCAGTTCCCGCAGCCCTTTCCGCTCGCCGCTCCACAGGCGCACAGTTGCATTTCCCGGAAAGCAGCCGCCCGCCCGGACCGCCAGTGAGTTATCTGCAGGGAACAACCACAGGGAGGATTGAATCAAGACCAGCGGTTCCAGAACGATTCTCAAGGCCAGCGCAGATATCGCCAGTCATGGACAACACAATTTTCCGTTAATCTGACTGGCCCCAACCTGGGCAGAAAAGGAAGGGCGGTTTTTCTTTCTTTTCTTTTCCTTTTTCTTCTCTTTTCTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATTTTGAGATAGAATCTCGCTCTGTCGCCCAGTAGATGGAGTGCAGTGGCACCATCTCGGCTCACTGCAACTTCTACCTCCCGGGTTCAAGTGATTCTCGTGCCTCAGCCTCACGAGTAGCCGGGATTACAGGCATACACCACCACGCCCAACTAATTTTCGTATTTATAATAGAGACGGGATTTCACCATGTTGGCTAGGCTGATCTCGAACTCCTGACCTCAAGTGATCCGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTAGAGGCGTGAGGCACCGCCTCGGCCTGGACGGGTGGTTTTCAACACTAAAGCCCGCTTGGTCTCCCCTAGGGTGGCAACAGTACTACTGCAGACTCAGTTTCCCGGAGGGAGCCCCCTTTGGGCGGATTTTACCACCCTCCTCCTACTGTACCAGCTTTGACCGACACGTGGACGTGGTTGCGGGACTCGTAGTAGACCCAGTCGAAGCCGGCTTCCACTGCGAGGCGCGCCAGCAACCCATACTTGTTGCGGTCGCGGTCAGACGTAGTGATGTCCAAAGCACGGCCTTCGTAGTGGAGTGAATCCTGAGCGTGGTGGCCGTCCTCGTCCCAGCCCTCAGTCACTCGTAGGCGCACTCCGGGCCACATGTTCATCACGGCAATGGCCAAAGCGTTCACCCGCTCCTTACAACGCTGGCGGGGAATAAAGGAGTCAGTCTCCCCACCACCACCCTTGGGGCAAAAGGGACCTGGATAGGAGGGTTGATTCTTTGTTATTCCGGCCCTACTCTTACCCCTCCCAGCTTTTGAGTGTCCTGGAGAAATGAGAATCTGAGTCGATGGTAGTCACCAATCTGCACTCTGTTCCCAGGACGTCGTTGGAGAACTGTGGGCTCACCTCTGAGGTTGAGAGGGGGTGCCCATACCTAGCTCCTTCCCCATTTTTAATGCCCGTCCCTCACCCCTATTGGTTCAGGGACAGCGGCTCAACCTGGGAGAAGGACAGAGTTAGGAGGGCGAATGGAAGCGTGGTCAGGGAGGGCCTGGTTGCTCCCGGAGAGCCCCTGTTTGAGCCTGGCCCCCGCCCCAGGCACCGGCTCCCCTCCCTCCGCCTGATTCATCTTTTGTTTCATTGCCTTCCCTGGCACCGGGCATCGCTTCCTTCCTTCCTTCCTCCTCCTCCTTTGGGCCCTTAGCATTAACCCCTTCGTGCTCTGGGTGCCCCCCAGAGAGGTGCCCAAGAGGAGCTGTGCGGGATCAAGGCTGCTGGAAAAAGGATTGGGGTGGCGGGGGTTGCGCGAAGTACAATGGCCATTATCCGGGATGACTTAACCGAGCGAGAATCCTGAGCCCAGGCCGGGAACGCGCTGGGAGAAGCGGACTCAGCAGCTCCGGCC
|
CTGCTTCCAAATATTGCCTTTATCAAGCACTACCTGGAACCCTATTATGCTTTCACCTCCTTGACAATTGAACTCAAGGGTCATGAGGGTGAGGGACATGAGGCGGCAACTTTGATACATAAGGAAGTCTGGGCTACTACAGGTATACTAGTAGGGCATCTGCAGCTTCCAGGAACCACAGAGCTAAACTAGGCAGGAGTGATGTAAAAGTGCCATGGTTTGGAACGACTTGCCCAAGGAGAAGCAGGTGGACTCCTTGACAGCTCCTGATATGTGTGACTCAGCGCTGGCAGCTTAACAAGGCCCACCCATCATCTCTCCCTCCTGGGAGCGGGCTCCTTTGCGCAGGTCCAGTACACCCTTCCATGTCTGAGACCGCTTGCCTTCCGTTTCAGAGAACCATATGCATAGGCCTAGAATTCTCTTGAAGGCCACCAGAGGGCGGTGTATAGCAGGGACCCTGTGCGATGGGAGCGCACAGCGGCTACTGGCAAGGGCGAGCTCCGGGTGGTACCAACAACCCCCGACTATTTCCTCCTCCCCGCCTCACCTCCACCCAAGACACTTCCCTTCTGGAGCAGCCCAGCTTCCTCCAGAGCTTCCATTCCTAACTCAGGGGCACCTGCCTGCCTGGATTCCAGGTGTCTACTGCGTTGGAACCTAAAGGTTCCAAAAACACCCAGGCTAGGGAAGTAGAGCTGGTGATAATGGGAGAGGGAGGAGGAGGCGCTGAAGACCAAGCCAGTAGAAACAACAATCAGGGCCAGCGATCAGGAGGGGAGCTCGGGTTGTAATGCTGATATGCCCTTGTTTAGGGAATCTACTTCCCCCACATACACCCAGGCTGAATCCATTCTCTCTCTCTGAGCAGCCCTTCAGTAAGGAAATATTCCAGCCTCTTACTGTGCCCCCCTTCCTTTTTCAGGCCATGACTATGCGACGATTGCAAATTATTACCCAGGTTTCCCATGGATCATCAGTTGGCCCAGTGGCATATCAGAAAAAACATCCACCCCATCCAGGCCCTGCCACCAAGGTAGGATGGGGACCAGGACTACTGGCTAACAATAGGGGACTAGATGCTTTGAGTATCAGTACTCATAGGGGCCTGAGCCCCTGCTGGAGCCCCTATAAACAGAGAAGAGGTGTGCACAGTCTTTCCCACCTGGGACAACCCTGGACCCTTCAGCCGCAGGAGCGAAATGCTGGTCCTCTCTGGATGGGAGACGGAAACAGCAGCCTGGAAAAGGGTACGACTCTTGTGGGCTCTGTTGCTTATGGGTTGGGATGCCCCTTCTGAAGGGAGGAAAAGGGTCCCAAAGACCCTGCTGAGGAAGGAGGGGGAGCCGGAAGTAAGCTGTTAACTCAGGTTGGCCACCTTTATCCCCCTCTCTGGAGGTGAATCACCCTCTGAATGGAAGTGTTTTCCAGTAAGCTCCTGAAAGCCTTCCCTTTATTAGCCCACCTTGCAGGAAAACGTCAGATGTCAGACTGGCTGGCTGTGTCAGACAGTGTTAATGCCATGCCCCAGCCCCTCACCTTGGCAAGCTGGGCAAGGGAATCATTATATTACAATTTATAAATAAGAAATAAAATAAAATTATCGGGTGGGGCTGAAGCACTGGGGGAGAGGCTAAATAGTCCTCTTTAAGGAGTGCGCACCATCAGCCCTACCTACCTAGGACCCGGTATCACCTCCTCTCAGTACGAGGTTGCCCCTAAGCCAGGCATAGCCCCATTTTCTCCCTCCCCCTCCCTCTCCCTCCCTTCCAGTCGGCATCGTCTGCTGCCCACAGCCCCATATCTCAGCCAGCAGGCCCTCGTTTCCTCGGGCGCTTCGAGGTTTCTATGCCTGGGACGCTCAGCCCAGTAGCTCCTCCGCTAAGCGGTAGAGGAGCCGAGAGTACCAATGCATGCCAGTCGGCTGGACGGCCCCGCCGGGGAGCAGCGCCCCTAGCGCGTGCAGCAGTCTCAAGGGGGCAAAAGCGCGGTGCGCCCACTGGTGACTCTCCAGAACCGCGTAGCAAGAGGCCAGGACATCGTTCACCGGCAGCGTCCCGTGCGCGGTGAGCGGCGCGAACACGCCCACGGCTTCCTCCCGCGCCACACGGGCCACGCGCGCTGGCCGAAGCGCATCCCCGCCGGGCGCCAGCACCGAGTCCCCAGCGCGTAGCCGGCGCGCGAACACCGGTGCAAAGTCGCCTGGCGCGGGCGCCGGCCCTCGAGCGGCAAACACCAGGTGCCAGGGCGTGAGCAACAGTTTGCGTGGAGGCCACTCGGTCTCCACAGCCACAAATGAAGCCCGGCGCTGCAAGTCCCGGTCCAGGAAGAGCAGCACCGGCGTGGGCACCACCCGGCCTGACGCATCGGCCGCCAAAACCCAGTCTCCGCGGTGCAGTTCCCGCAGCCCTTTCCGCTCGCCGCTCCACAGGCGCACAGTTGCATTTCCCGGAAAGCAGCCGCCCGCCCGGACCGCCAGTGAGTTATCTGCAGGGAACAACCACAGGGAGGATTGAATCAAGACCAGCGGTTCCAGAACGATTCTCAAGGCCAGCGCAGATATCGCCAGTCATGGACAACACAATTTTCCGTTAATCTGACTGGCCCCAACCTGGGCAGAAAAGGAAGGGCGGTTTTTCTTTCTTTTCTTTTCCTTTTTCTTCTCTTTTCTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATTTTGAGATAGAATCTCGCTCTGTCGCCCAGTAGATGGAGTGCAGTGGCACCATCTCGGCTCACTGCAACTTCTACCTCCCGGGTTCAAGTGATTCTCGTGCCTCAGCCTCACGAGTAGCCGGGATTACAGGCATACACCACCACGCCCAACTAATTTTCGTATTTATAATAGAGACGGGATTTCACCATGTTGGCTAGGCTGATCTCGAACTCCTGACCTCAAGTGATCCGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTAGAGGCGTGAGGCACCGCCTCGGCCTGGACGGGTGGTTTTCAACACTAAAGCCCGCTTGGTCTCCCCTAGGGTGGCAACAGTACTACTGCAGACTCAGTTTCCCGGAGGGAGCCCCCTTTGGGCGGATTTTACCACCCTCCTCCTACTGTACCAGCTTTGACCGACACGTGGACGTGGTTGCGGGACTCGTAGTAGACCCAGTCGAAGCCGGCTTCCACTGCGAGGCGCGCCAGCAACCCATACTTGTTGCGGTCGCGGTCAGACGTAGTGATGTCCAAAGCACGGCCTTCGTAGTGGAGTGAATCCTGAGCGTGGTGGCCGTCCTCGTCCCAGCCCTCAGTCACTCGTAGGCGCACTCCGGGCCACATGTTCATCACGGCAATGGCCAAAGCGTTCACCCGCTCCTTACAACGCTGGCGGGGAATAAAGGAGTCAGTCTCCCCACCACCACCCTTGGGGCAAAAGGGACCTGGATAGGAGGGTTGATTCTTTGTTATTCCGGCCCTACTCTTACCCCTCCCAGCTTTTGAGTGTCCTGGAGAAATGAGAATCTGAGTCGATGGTAGTCACCAATCTGCACTCTGTTCCCAGGACGTCGTTGGAGAACTGTGGGCTCACCTCTGAGGTTGAGAGGGGGTGCCCATACCTAGCTCCTTCCCCATTTTTAATGCCCGTCCCTCACCCCTATTGGTTCAGGGACAGCGGCTCAACCTGGGAGAAGGACAGAGTTAGGAGGGCGAATGGAAGCGTGGTCAGGGAGGGCCTGGTTGCTCCCGGAGAGCCCCTGTTTGAGCCTGGCCCCCGCCCCAGGCACCGGCTCCCCTCCCTCCGCCTGATTCATCTTTTGTTTCATTGCCTTCCCTGGCACCGGGCATCGCTTCCTTCCTTCCTTCCTCCTCCTCCTTTGGGCCCTTAGCATTAACCCCTTCGTGCTCTGGGTGCCCCCCAGAGAGGTGCCCAAGAGGAGCTGTGCGGGATCAAGGCTGCTGGAAAAAGGATTGGGGTGGCGGGGGTTGCGCGAAGTACAATGGCCATTATCCGGGATGACTTAACCGAGCGAGAATCCTGAGCCCAGGCCGGGAACGCGCTGGGAGAAGCGGACTCAGCAGCTCCGGCC
|
Task1_train_17586
|
Given a variant located on Chromosome 12 and affecting DHH (desert hedgehog signaling molecule), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
|
Pathogenic; 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
|
CTATAAACAGAGAAGAGGTGTGCACAGTCTTTCCCACCTGGGACAACCCTGGACCCTTCAGCCGCAGGAGCGAAATGCTGGTCCTCTCTGGATGGGAGACGGAAACAGCAGCCTGGAAAAGGGTACGACTCTTGTGGGCTCTGTTGCTTATGGGTTGGGATGCCCCTTCTGAAGGGAGGAAAAGGGTCCCAAAGACCCTGCTGAGGAAGGAGGGGGAGCCGGAAGTAAGCTGTTAACTCAGGTTGGCCACCTTTATCCCCCTCTCTGGAGGTGAATCACCCTCTGAATGGAAGTGTTTTCCAGTAAGCTCCTGAAAGCCTTCCCTTTATTAGCCCACCTTGCAGGAAAACGTCAGATGTCAGACTGGCTGGCTGTGTCAGACAGTGTTAATGCCATGCCCCAGCCCCTCACCTTGGCAAGCTGGGCAAGGGAATCATTATATTACAATTTATAAATAAGAAATAAAATAAAATTATCGGGTGGGGCTGAAGCACTGGGGGAGAGGCTAAATAGTCCTCTTTAAGGAGTGCGCACCATCAGCCCTACCTACCTAGGACCCGGTATCACCTCCTCTCAGTACGAGGTTGCCCCTAAGCCAGGCATAGCCCCATTTTCTCCCTCCCCCTCCCTCTCCCTCCCTTCCAGTCGGCATCGTCTGCTGCCCACAGCCCCATATCTCAGCCAGCAGGCCCTCGTTTCCTCGGGCGCTTCGAGGTTTCTATGCCTGGGACGCTCAGCCCAGTAGCTCCTCCGCTAAGCGGTAGAGGAGCCGAGAGTACCAATGCATGCCAGTCGGCTGGACGGCCCCGCCGGGGAGCAGCGCCCCTAGCGCGTGCAGCAGTCTCAAGGGGGCAAAAGCGCGGTGCGCCCACTGGTGACTCTCCAGAACCGCGTAGCAAGAGGCCAGGACATCGTTCACCAGCAGCGTCCCGTGCGCGGTGAGCGGCGCGAACACGCCCACGGCTTCCTCCCGCGCCACACGGGCCACGCGCGCTGGCCGAAGCGCATCCCCGCCGGGCGCCAGCACCGAGTCCCCAGCGCGTAGCCGGCGCGCGAACACCGGTGCAAAGTCGCCTGGCGCGGGCGCCGGCCCTCGAGCGGCAAACACCAGGTGCCAGGGCGTGAGCAACAGTTTGCGTGGAGGCCACTCGGTCTCCACAGCCACAAATGAAGCCCGGCGCTGCAAGTCCCGGTCCAGGAAGAGCAGCACCGGCGTGGGCACCACCCGGCCTGACGCATCGGCCGCCAAAACCCAGTCTCCGCGGTGCAGTTCCCGCAGCCCTTTCCGCTCGCCGCTCCACAGGCGCACAGTTGCATTTCCCGGAAAGCAGCCGCCCGCCCGGACCGCCAGTGAGTTATCTGCAGGGAACAACCACAGGGAGGATTGAATCAAGACCAGCGGTTCCAGAACGATTCTCAAGGCCAGCGCAGATATCGCCAGTCATGGACAACACAATTTTCCGTTAATCTGACTGGCCCCAACCTGGGCAGAAAAGGAAGGGCGGTTTTTCTTTCTTTTCTTTTCCTTTTTCTTCTCTTTTCTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATTTTGAGATAGAATCTCGCTCTGTCGCCCAGTAGATGGAGTGCAGTGGCACCATCTCGGCTCACTGCAACTTCTACCTCCCGGGTTCAAGTGATTCTCGTGCCTCAGCCTCACGAGTAGCCGGGATTACAGGCATACACCACCACGCCCAACTAATTTTCGTATTTATAATAGAGACGGGATTTCACCATGTTGGCTAGGCTGATCTCGAACTCCTGACCTCAAGTGATCCGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTAGAGGCGTGAGGCACCGCCTCGGCCTGGACGGGTGGTTTTCAACACTAAAGCCCGCTTGGTCTCCCCTAGGGTGGCAACAGTACTACTGCAGACTCAGTTTCCCGGAGGGAGCCCCCTTTGGGCGGATTTTACCACCCTCCTCCTACTGTACCAGCTTTGACCGACACGTGGACGTGGTTGCGGGACTCGTAGTAGACCCAGTCGAAGCCGGCTTCCACTGCGAGGCGCGCCAGCAACCCATACTTGTTGCGGTCGCGGTCAGACGTAGTGATGTCCAAAGCACGGCCTTCGTAGTGGAGTGAATCCTGAGCGTGGTGGCCGTCCTCGTCCCAGCCCTCAGTCACTCGTAGGCGCACTCCGGGCCACATGTTCATCACGGCAATGGCCAAAGCGTTCACCCGCTCCTTACAACGCTGGCGGGGAATAAAGGAGTCAGTCTCCCCACCACCACCCTTGGGGCAAAAGGGACCTGGATAGGAGGGTTGATTCTTTGTTATTCCGGCCCTACTCTTACCCCTCCCAGCTTTTGAGTGTCCTGGAGAAATGAGAATCTGAGTCGATGGTAGTCACCAATCTGCACTCTGTTCCCAGGACGTCGTTGGAGAACTGTGGGCTCACCTCTGAGGTTGAGAGGGGGTGCCCATACCTAGCTCCTTCCCCATTTTTAATGCCCGTCCCTCACCCCTATTGGTTCAGGGACAGCGGCTCAACCTGGGAGAAGGACAGAGTTAGGAGGGCGAATGGAAGCGTGGTCAGGGAGGGCCTGGTTGCTCCCGGAGAGCCCCTGTTTGAGCCTGGCCCCCGCCCCAGGCACCGGCTCCCCTCCCTCCGCCTGATTCATCTTTTGTTTCATTGCCTTCCCTGGCACCGGGCATCGCTTCCTTCCTTCCTTCCTCCTCCTCCTTTGGGCCCTTAGCATTAACCCCTTCGTGCTCTGGGTGCCCCCCAGAGAGGTGCCCAAGAGGAGCTGTGCGGGATCAAGGCTGCTGGAAAAAGGATTGGGGTGGCGGGGGTTGCGCGAAGTACAATGGCCATTATCCGGGATGACTTAACCGAGCGAGAATCCTGAGCCCAGGCCGGGAACGCGCTGGGAGAAGCGGACTCAGCAGCTCCGGCCACAAAGGCGCTTTTCAGCCGCCCCGGCTCAGGGAGAGGAAAGGGCAGAAAGCCGCGCCCCCAATCCCTGCTCCGTCCGGGTAGGTCCCCTCCCCCCGCGCGTCCAGTCTTCCCAGTTCCAGCTAAGGCTCTGCCAGTCCGGAGAGCCCCTATCTCTCCCATCTCTGCTCTAGATGCAGCCCAGAAGGGCGTGGGAGTAGCACCTGAGAATAACGGTCTCCTTGTGCGGATCTGGGGAGCCCCCTGCAGGGTGAGAGCGGAGAAGAGGAAAAGAAGCTGCGGCTGGAAGCCTGCACCTGGGGGAGTGAGACCACAGTTATCTTGGCCGCTCCAGCCTGGGAGCGGGAGACCTTGGCGCGCACCATAGCAGGGACACCGCGGGAGGAGGCGCAGAGGGACAGCTTCCTTTTTTTCTTTCCCCTCCGACCTCTCACCTCGGACTTGGTTTTCTCCTAACAGAAAGACACTTTTCCCCTCTCCTCTAGTCTCCTCCACCCCGCAGAGTTGGGGTTGGGTGGGGGGAAAACAGGAAAAGTGGTAGCTCCTTCCAACTTTGTCGTTTCGTCCCCTAAGGAGGCCCCGAGGCCCTGACCTGCGGGGGCAGCAGCCCAGTGCAGAGCCAACTCAATGGAGGCCTTTTGCAGCCAGGGTGTGGGAGATAAGTAAGACTGAGGGGGCTCCCAGGCCTGCCGGAGCCCCTCCTGAGCCTGTCCCTTGTTCTGCCCACTCTGCTGCAGGTGGCAACCAGAGGAAAGGGCCACAATGTTCCACGGCCAAGGAGGAAAGAAGGAATGCCCCTTTTCCCATCTCTAGGTAGGAGGAAGGCTTCAGGGCAGAAGCAAAAGGAATTATTTCTTCCCTGGACAGGTTTTCCTAACAAAGTAACCTGGAAAACTATGGCAATTAATCAGAGGAAATCCGTACCCCTCCCTCTCCCCCCACCTCCCCACTCCATACACAATTAGGTGGTGTAATGGAAAGTATATAGGGCTTAGAATCAGGAGTCCTGAATTCTAGTCCCAGCCATGCCACTTTAAATTGTGAGAGTTTAAATTGCTTTTCCTCCTGGGGGAAGTCCAGCTCTCAGATGTAAAATGAGGGTGGCAGTGGGGGTGGGGAGGGTTGGAGG
|
CTATAAACAGAGAAGAGGTGTGCACAGTCTTTCCCACCTGGGACAACCCTGGACCCTTCAGCCGCAGGAGCGAAATGCTGGTCCTCTCTGGATGGGAGACGGAAACAGCAGCCTGGAAAAGGGTACGACTCTTGTGGGCTCTGTTGCTTATGGGTTGGGATGCCCCTTCTGAAGGGAGGAAAAGGGTCCCAAAGACCCTGCTGAGGAAGGAGGGGGAGCCGGAAGTAAGCTGTTAACTCAGGTTGGCCACCTTTATCCCCCTCTCTGGAGGTGAATCACCCTCTGAATGGAAGTGTTTTCCAGTAAGCTCCTGAAAGCCTTCCCTTTATTAGCCCACCTTGCAGGAAAACGTCAGATGTCAGACTGGCTGGCTGTGTCAGACAGTGTTAATGCCATGCCCCAGCCCCTCACCTTGGCAAGCTGGGCAAGGGAATCATTATATTACAATTTATAAATAAGAAATAAAATAAAATTATCGGGTGGGGCTGAAGCACTGGGGGAGAGGCTAAATAGTCCTCTTTAAGGAGTGCGCACCATCAGCCCTACCTACCTAGGACCCGGTATCACCTCCTCTCAGTACGAGGTTGCCCCTAAGCCAGGCATAGCCCCATTTTCTCCCTCCCCCTCCCTCTCCCTCCCTTCCAGTCGGCATCGTCTGCTGCCCACAGCCCCATATCTCAGCCAGCAGGCCCTCGTTTCCTCGGGCGCTTCGAGGTTTCTATGCCTGGGACGCTCAGCCCAGTAGCTCCTCCGCTAAGCGGTAGAGGAGCCGAGAGTACCAATGCATGCCAGTCGGCTGGACGGCCCCGCCGGGGAGCAGCGCCCCTAGCGCGTGCAGCAGTCTCAAGGGGGCAAAAGCGCGGTGCGCCCACTGGTGACTCTCCAGAACCGCGTAGCAAGAGGCCAGGACATCGTTCACCAGCAGCGTCCCGTGCGCGGTGAGCGGCGCGAACACGCCCACGGCTTCCTCCCGCGCCACACGGGCCACGCGCGCTGGCCGAAGCGCATCCCCGCCGGGCGCCAGCACCGAGTCCCCAGCGCGTAGCCGGCGCGCGAACACCGGTGCAAAGTCGCCTGGCGCGGGCGCCGGCCCTCGAGCGGCAAACACCAGGTGCCAGGGCGTGAGCAACAGTTTGCGTGGAGGCCACTCGGTCTCCACAGCCACAAATGAAGCCCGGCGCTGCAAGTCCCGGTCCAGGAAGAGCAGCACCGGCGTGGGCACCACCCGGCCTGACGCATCGGCCGCCAAAACCCAGTCTCCGCGGTGCAGTTCCCGCAGCCCTTTCCGCTCGCCGCTCCACAGGCGCACAGTTGCATTTCCCGGAAAGCAGCCGCCCGCCCGGACCGCCAGTGAGTTATCTGCAGGGAACAACCACAGGGAGGATTGAATCAAGACCAGCGGTTCCAGAACGATTCTCAAGGCCAGCGCAGATATCGCCAGTCATGGACAACACAATTTTCCGTTAATCTGACTGGCCCCAACCTGGGCAGAAAAGGAAGGGCGGTTTTTCTTTCTTTTCTTTTCCTTTTTCTTCTCTTTTCTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATTTTGAGATAGAATCTCGCTCTGTCGCCCAGTAGATGGAGTGCAGTGGCACCATCTCGGCTCACTGCAACTTCTACCTCCCGGGTTCAAGTGATTCTCGTGCCTCAGCCTCACGAGTAGCCGGGATTACAGGCATACACCACCACGCCCAACTAATTTTCGTATTTATAATAGAGACGGGATTTCACCATGTTGGCTAGGCTGATCTCGAACTCCTGACCTCAAGTGATCCGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTAGAGGCGTGAGGCACCGCCTCGGCCTGGACGGGTGGTTTTCAACACTAAAGCCCGCTTGGTCTCCCCTAGGGTGGCAACAGTACTACTGCAGACTCAGTTTCCCGGAGGGAGCCCCCTTTGGGCGGATTTTACCACCCTCCTCCTACTGTACCAGCTTTGACCGACACGTGGACGTGGTTGCGGGACTCGTAGTAGACACAGTCGAAGCCGGCTTCCACTGCGAGGCGCGCCAGCAACCCATACTTGTTGCGGTCGCGGTCAGACGTAGTGATGTCCAAAGCACGGCCTTCGTAGTGGAGTGAATCCTGAGCGTGGTGGCCGTCCTCGTCCCAGCCCTCAGTCACTCGTAGGCGCACTCCGGGCCACATGTTCATCACGGCAATGGCCAAAGCGTTCACCCGCTCCTTACAACGCTGGCGGGGAATAAAGGAGTCAGTCTCCCCACCACCACCCTTGGGGCAAAAGGGACCTGGATAGGAGGGTTGATTCTTTGTTATTCCGGCCCTACTCTTACCCCTCCCAGCTTTTGAGTGTCCTGGAGAAATGAGAATCTGAGTCGATGGTAGTCACCAATCTGCACTCTGTTCCCAGGACGTCGTTGGAGAACTGTGGGCTCACCTCTGAGGTTGAGAGGGGGTGCCCATACCTAGCTCCTTCCCCATTTTTAATGCCCGTCCCTCACCCCTATTGGTTCAGGGACAGCGGCTCAACCTGGGAGAAGGACAGAGTTAGGAGGGCGAATGGAAGCGTGGTCAGGGAGGGCCTGGTTGCTCCCGGAGAGCCCCTGTTTGAGCCTGGCCCCCGCCCCAGGCACCGGCTCCCCTCCCTCCGCCTGATTCATCTTTTGTTTCATTGCCTTCCCTGGCACCGGGCATCGCTTCCTTCCTTCCTTCCTCCTCCTCCTTTGGGCCCTTAGCATTAACCCCTTCGTGCTCTGGGTGCCCCCCAGAGAGGTGCCCAAGAGGAGCTGTGCGGGATCAAGGCTGCTGGAAAAAGGATTGGGGTGGCGGGGGTTGCGCGAAGTACAATGGCCATTATCCGGGATGACTTAACCGAGCGAGAATCCTGAGCCCAGGCCGGGAACGCGCTGGGAGAAGCGGACTCAGCAGCTCCGGCCACAAAGGCGCTTTTCAGCCGCCCCGGCTCAGGGAGAGGAAAGGGCAGAAAGCCGCGCCCCCAATCCCTGCTCCGTCCGGGTAGGTCCCCTCCCCCCGCGCGTCCAGTCTTCCCAGTTCCAGCTAAGGCTCTGCCAGTCCGGAGAGCCCCTATCTCTCCCATCTCTGCTCTAGATGCAGCCCAGAAGGGCGTGGGAGTAGCACCTGAGAATAACGGTCTCCTTGTGCGGATCTGGGGAGCCCCCTGCAGGGTGAGAGCGGAGAAGAGGAAAAGAAGCTGCGGCTGGAAGCCTGCACCTGGGGGAGTGAGACCACAGTTATCTTGGCCGCTCCAGCCTGGGAGCGGGAGACCTTGGCGCGCACCATAGCAGGGACACCGCGGGAGGAGGCGCAGAGGGACAGCTTCCTTTTTTTCTTTCCCCTCCGACCTCTCACCTCGGACTTGGTTTTCTCCTAACAGAAAGACACTTTTCCCCTCTCCTCTAGTCTCCTCCACCCCGCAGAGTTGGGGTTGGGTGGGGGGAAAACAGGAAAAGTGGTAGCTCCTTCCAACTTTGTCGTTTCGTCCCCTAAGGAGGCCCCGAGGCCCTGACCTGCGGGGGCAGCAGCCCAGTGCAGAGCCAACTCAATGGAGGCCTTTTGCAGCCAGGGTGTGGGAGATAAGTAAGACTGAGGGGGCTCCCAGGCCTGCCGGAGCCCCTCCTGAGCCTGTCCCTTGTTCTGCCCACTCTGCTGCAGGTGGCAACCAGAGGAAAGGGCCACAATGTTCCACGGCCAAGGAGGAAAGAAGGAATGCCCCTTTTCCCATCTCTAGGTAGGAGGAAGGCTTCAGGGCAGAAGCAAAAGGAATTATTTCTTCCCTGGACAGGTTTTCCTAACAAAGTAACCTGGAAAACTATGGCAATTAATCAGAGGAAATCCGTACCCCTCCCTCTCCCCCCACCTCCCCACTCCATACACAATTAGGTGGTGTAATGGAAAGTATATAGGGCTTAGAATCAGGAGTCCTGAATTCTAGTCCCAGCCATGCCACTTTAAATTGTGAGAGTTTAAATTGCTTTTCCTCCTGGGGGAAGTCCAGCTCTCAGATGTAAAATGAGGGTGGCAGTGGGGGTGGGGAGGGTTGGAGG
|
Task1_train_17587
|
The gene DHH (desert hedgehog signaling molecule) is located on Chromosome 12, where a mutation has occurred. What is the medical relevance of this mutation?
|
Pathogenic; 46,XY sex reversal 7
|
CACCTGGGACAACCCTGGACCCTTCAGCCGCAGGAGCGAAATGCTGGTCCTCTCTGGATGGGAGACGGAAACAGCAGCCTGGAAAAGGGTACGACTCTTGTGGGCTCTGTTGCTTATGGGTTGGGATGCCCCTTCTGAAGGGAGGAAAAGGGTCCCAAAGACCCTGCTGAGGAAGGAGGGGGAGCCGGAAGTAAGCTGTTAACTCAGGTTGGCCACCTTTATCCCCCTCTCTGGAGGTGAATCACCCTCTGAATGGAAGTGTTTTCCAGTAAGCTCCTGAAAGCCTTCCCTTTATTAGCCCACCTTGCAGGAAAACGTCAGATGTCAGACTGGCTGGCTGTGTCAGACAGTGTTAATGCCATGCCCCAGCCCCTCACCTTGGCAAGCTGGGCAAGGGAATCATTATATTACAATTTATAAATAAGAAATAAAATAAAATTATCGGGTGGGGCTGAAGCACTGGGGGAGAGGCTAAATAGTCCTCTTTAAGGAGTGCGCACCATCAGCCCTACCTACCTAGGACCCGGTATCACCTCCTCTCAGTACGAGGTTGCCCCTAAGCCAGGCATAGCCCCATTTTCTCCCTCCCCCTCCCTCTCCCTCCCTTCCAGTCGGCATCGTCTGCTGCCCACAGCCCCATATCTCAGCCAGCAGGCCCTCGTTTCCTCGGGCGCTTCGAGGTTTCTATGCCTGGGACGCTCAGCCCAGTAGCTCCTCCGCTAAGCGGTAGAGGAGCCGAGAGTACCAATGCATGCCAGTCGGCTGGACGGCCCCGCCGGGGAGCAGCGCCCCTAGCGCGTGCAGCAGTCTCAAGGGGGCAAAAGCGCGGTGCGCCCACTGGTGACTCTCCAGAACCGCGTAGCAAGAGGCCAGGACATCGTTCACCAGCAGCGTCCCGTGCGCGGTGAGCGGCGCGAACACGCCCACGGCTTCCTCCCGCGCCACACGGGCCACGCGCGCTGGCCGAAGCGCATCCCCGCCGGGCGCCAGCACCGAGTCCCCAGCGCGTAGCCGGCGCGCGAACACCGGTGCAAAGTCGCCTGGCGCGGGCGCCGGCCCTCGAGCGGCAAACACCAGGTGCCAGGGCGTGAGCAACAGTTTGCGTGGAGGCCACTCGGTCTCCACAGCCACAAATGAAGCCCGGCGCTGCAAGTCCCGGTCCAGGAAGAGCAGCACCGGCGTGGGCACCACCCGGCCTGACGCATCGGCCGCCAAAACCCAGTCTCCGCGGTGCAGTTCCCGCAGCCCTTTCCGCTCGCCGCTCCACAGGCGCACAGTTGCATTTCCCGGAAAGCAGCCGCCCGCCCGGACCGCCAGTGAGTTATCTGCAGGGAACAACCACAGGGAGGATTGAATCAAGACCAGCGGTTCCAGAACGATTCTCAAGGCCAGCGCAGATATCGCCAGTCATGGACAACACAATTTTCCGTTAATCTGACTGGCCCCAACCTGGGCAGAAAAGGAAGGGCGGTTTTTCTTTCTTTTCTTTTCCTTTTTCTTCTCTTTTCTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATTTTGAGATAGAATCTCGCTCTGTCGCCCAGTAGATGGAGTGCAGTGGCACCATCTCGGCTCACTGCAACTTCTACCTCCCGGGTTCAAGTGATTCTCGTGCCTCAGCCTCACGAGTAGCCGGGATTACAGGCATACACCACCACGCCCAACTAATTTTCGTATTTATAATAGAGACGGGATTTCACCATGTTGGCTAGGCTGATCTCGAACTCCTGACCTCAAGTGATCCGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTAGAGGCGTGAGGCACCGCCTCGGCCTGGACGGGTGGTTTTCAACACTAAAGCCCGCTTGGTCTCCCCTAGGGTGGCAACAGTACTACTGCAGACTCAGTTTCCCGGAGGGAGCCCCCTTTGGGCGGATTTTACCACCCTCCTCCTACTGTACCAGCTTTGACCGACACGTGGACGTGGTTGCGGGACTCGTAGTAGACCCAGTCGAAGCCGGCTTCCACTGCGAGGCGCGCCAGCAACCCATACTTGTTGCGGTCGCGGTCAGACGTAGTGATGTCCAAAGCACGGCCTTCGTAGTGGAGTGAATCCTGAGCGTGGTGGCCGTCCTCGTCCCAGCCCTCAGTCACTCGTAGGCGCACTCCGGGCCACATGTTCATCACGGCAATGGCCAAAGCGTTCACCCGCTCCTTACAACGCTGGCGGGGAATAAAGGAGTCAGTCTCCCCACCACCACCCTTGGGGCAAAAGGGACCTGGATAGGAGGGTTGATTCTTTGTTATTCCGGCCCTACTCTTACCCCTCCCAGCTTTTGAGTGTCCTGGAGAAATGAGAATCTGAGTCGATGGTAGTCACCAATCTGCACTCTGTTCCCAGGACGTCGTTGGAGAACTGTGGGCTCACCTCTGAGGTTGAGAGGGGGTGCCCATACCTAGCTCCTTCCCCATTTTTAATGCCCGTCCCTCACCCCTATTGGTTCAGGGACAGCGGCTCAACCTGGGAGAAGGACAGAGTTAGGAGGGCGAATGGAAGCGTGGTCAGGGAGGGCCTGGTTGCTCCCGGAGAGCCCCTGTTTGAGCCTGGCCCCCGCCCCAGGCACCGGCTCCCCTCCCTCCGCCTGATTCATCTTTTGTTTCATTGCCTTCCCTGGCACCGGGCATCGCTTCCTTCCTTCCTTCCTCCTCCTCCTTTGGGCCCTTAGCATTAACCCCTTCGTGCTCTGGGTGCCCCCCAGAGAGGTGCCCAAGAGGAGCTGTGCGGGATCAAGGCTGCTGGAAAAAGGATTGGGGTGGCGGGGGTTGCGCGAAGTACAATGGCCATTATCCGGGATGACTTAACCGAGCGAGAATCCTGAGCCCAGGCCGGGAACGCGCTGGGAGAAGCGGACTCAGCAGCTCCGGCCACAAAGGCGCTTTTCAGCCGCCCCGGCTCAGGGAGAGGAAAGGGCAGAAAGCCGCGCCCCCAATCCCTGCTCCGTCCGGGTAGGTCCCCTCCCCCCGCGCGTCCAGTCTTCCCAGTTCCAGCTAAGGCTCTGCCAGTCCGGAGAGCCCCTATCTCTCCCATCTCTGCTCTAGATGCAGCCCAGAAGGGCGTGGGAGTAGCACCTGAGAATAACGGTCTCCTTGTGCGGATCTGGGGAGCCCCCTGCAGGGTGAGAGCGGAGAAGAGGAAAAGAAGCTGCGGCTGGAAGCCTGCACCTGGGGGAGTGAGACCACAGTTATCTTGGCCGCTCCAGCCTGGGAGCGGGAGACCTTGGCGCGCACCATAGCAGGGACACCGCGGGAGGAGGCGCAGAGGGACAGCTTCCTTTTTTTCTTTCCCCTCCGACCTCTCACCTCGGACTTGGTTTTCTCCTAACAGAAAGACACTTTTCCCCTCTCCTCTAGTCTCCTCCACCCCGCAGAGTTGGGGTTGGGTGGGGGGAAAACAGGAAAAGTGGTAGCTCCTTCCAACTTTGTCGTTTCGTCCCCTAAGGAGGCCCCGAGGCCCTGACCTGCGGGGGCAGCAGCCCAGTGCAGAGCCAACTCAATGGAGGCCTTTTGCAGCCAGGGTGTGGGAGATAAGTAAGACTGAGGGGGCTCCCAGGCCTGCCGGAGCCCCTCCTGAGCCTGTCCCTTGTTCTGCCCACTCTGCTGCAGGTGGCAACCAGAGGAAAGGGCCACAATGTTCCACGGCCAAGGAGGAAAGAAGGAATGCCCCTTTTCCCATCTCTAGGTAGGAGGAAGGCTTCAGGGCAGAAGCAAAAGGAATTATTTCTTCCCTGGACAGGTTTTCCTAACAAAGTAACCTGGAAAACTATGGCAATTAATCAGAGGAAATCCGTACCCCTCCCTCTCCCCCCACCTCCCCACTCCATACACAATTAGGTGGTGTAATGGAAAGTATATAGGGCTTAGAATCAGGAGTCCTGAATTCTAGTCCCAGCCATGCCACTTTAAATTGTGAGAGTTTAAATTGCTTTTCCTCCTGGGGGAAGTCCAGCTCTCAGATGTAAAATGAGGGTGGCAGTGGGGGTGGGGAGGGTTGGAGGAATGTCATCTCTCAAGTTTTCTTTCAGTTCTAAC
|
CACCTGGGACAACCCTGGACCCTTCAGCCGCAGGAGCGAAATGCTGGTCCTCTCTGGATGGGAGACGGAAACAGCAGCCTGGAAAAGGGTACGACTCTTGTGGGCTCTGTTGCTTATGGGTTGGGATGCCCCTTCTGAAGGGAGGAAAAGGGTCCCAAAGACCCTGCTGAGGAAGGAGGGGGAGCCGGAAGTAAGCTGTTAACTCAGGTTGGCCACCTTTATCCCCCTCTCTGGAGGTGAATCACCCTCTGAATGGAAGTGTTTTCCAGTAAGCTCCTGAAAGCCTTCCCTTTATTAGCCCACCTTGCAGGAAAACGTCAGATGTCAGACTGGCTGGCTGTGTCAGACAGTGTTAATGCCATGCCCCAGCCCCTCACCTTGGCAAGCTGGGCAAGGGAATCATTATATTACAATTTATAAATAAGAAATAAAATAAAATTATCGGGTGGGGCTGAAGCACTGGGGGAGAGGCTAAATAGTCCTCTTTAAGGAGTGCGCACCATCAGCCCTACCTACCTAGGACCCGGTATCACCTCCTCTCAGTACGAGGTTGCCCCTAAGCCAGGCATAGCCCCATTTTCTCCCTCCCCCTCCCTCTCCCTCCCTTCCAGTCGGCATCGTCTGCTGCCCACAGCCCCATATCTCAGCCAGCAGGCCCTCGTTTCCTCGGGCGCTTCGAGGTTTCTATGCCTGGGACGCTCAGCCCAGTAGCTCCTCCGCTAAGCGGTAGAGGAGCCGAGAGTACCAATGCATGCCAGTCGGCTGGACGGCCCCGCCGGGGAGCAGCGCCCCTAGCGCGTGCAGCAGTCTCAAGGGGGCAAAAGCGCGGTGCGCCCACTGGTGACTCTCCAGAACCGCGTAGCAAGAGGCCAGGACATCGTTCACCAGCAGCGTCCCGTGCGCGGTGAGCGGCGCGAACACGCCCACGGCTTCCTCCCGCGCCACACGGGCCACGCGCGCTGGCCGAAGCGCATCCCCGCCGGGCGCCAGCACCGAGTCCCCAGCGCGTAGCCGGCGCGCGAACACCGGTGCAAAGTCGCCTGGCGCGGGCGCCGGCCCTCGAGCGGCAAACACCAGGTGCCAGGGCGTGAGCAACAGTTTGCGTGGAGGCCACTCGGTCTCCACAGCCACAAATGAAGCCCGGCGCTGCAAGTCCCGGTCCAGGAAGAGCAGCACCGGCGTGGGCACCACCCGGCCTGACGCATCGGCCGCCAAAACCCAGTCTCCGCGGTGCAGTTCCCGCAGCCCTTTCCGCTCGCCGCTCCACAGGCGCACAGTTGCATTTCCCGGAAAGCAGCCGCCCGCCCGGACCGCCAGTGAGTTATCTGCAGGGAACAACCACAGGGAGGATTGAATCAAGACCAGCGGTTCCAGAACGATTCTCAAGGCCAGCGCAGATATCGCCAGTCATGGACAACACAATTTTCCGTTAATCTGACTGGCCCCAACCTGGGCAGAAAAGGAAGGGCGGTTTTTCTTTCTTTTCTTTTCCTTTTTCTTCTCTTTTCTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATTTTGAGATAGAATCTCGCTCTGTCGCCCAGTAGATGGAGTGCAGTGGCACCATCTCGGCTCACTGCAACTTCTACCTCCCGGGTTCAAGTGATTCTCGTGCCTCAGCCTCACGAGTAGCCGGGATTACAGGCATACACCACCACGCCCAACTAATTTTCGTATTTATAATAGAGACGGGATTTCACCATGTTGGCTAGGCTGATCTCGAACTCCTGACCTCAAGTGATCCGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTAGAGGCGTGAGGCACCGCCTCGGCCTGGACGGGTGGTTTTCAACACTAAAGCCCGCTTGGTCTCCCCTAGGGTGGCAACAGTACTACTGCAGACTCAGTTTCCCGGAGGGAGCCCCCTTTGGGCGGATTTTACCACCCTCCTCCTACTGTACCAGCTTTGACCGACACGTGGACGTGGTTGCGGGACTCGTAGTAGACCCAGTCGAAGCCGGCTTCCACTGCGAGGCGCGCCGGCAACCCATACTTGTTGCGGTCGCGGTCAGACGTAGTGATGTCCAAAGCACGGCCTTCGTAGTGGAGTGAATCCTGAGCGTGGTGGCCGTCCTCGTCCCAGCCCTCAGTCACTCGTAGGCGCACTCCGGGCCACATGTTCATCACGGCAATGGCCAAAGCGTTCACCCGCTCCTTACAACGCTGGCGGGGAATAAAGGAGTCAGTCTCCCCACCACCACCCTTGGGGCAAAAGGGACCTGGATAGGAGGGTTGATTCTTTGTTATTCCGGCCCTACTCTTACCCCTCCCAGCTTTTGAGTGTCCTGGAGAAATGAGAATCTGAGTCGATGGTAGTCACCAATCTGCACTCTGTTCCCAGGACGTCGTTGGAGAACTGTGGGCTCACCTCTGAGGTTGAGAGGGGGTGCCCATACCTAGCTCCTTCCCCATTTTTAATGCCCGTCCCTCACCCCTATTGGTTCAGGGACAGCGGCTCAACCTGGGAGAAGGACAGAGTTAGGAGGGCGAATGGAAGCGTGGTCAGGGAGGGCCTGGTTGCTCCCGGAGAGCCCCTGTTTGAGCCTGGCCCCCGCCCCAGGCACCGGCTCCCCTCCCTCCGCCTGATTCATCTTTTGTTTCATTGCCTTCCCTGGCACCGGGCATCGCTTCCTTCCTTCCTTCCTCCTCCTCCTTTGGGCCCTTAGCATTAACCCCTTCGTGCTCTGGGTGCCCCCCAGAGAGGTGCCCAAGAGGAGCTGTGCGGGATCAAGGCTGCTGGAAAAAGGATTGGGGTGGCGGGGGTTGCGCGAAGTACAATGGCCATTATCCGGGATGACTTAACCGAGCGAGAATCCTGAGCCCAGGCCGGGAACGCGCTGGGAGAAGCGGACTCAGCAGCTCCGGCCACAAAGGCGCTTTTCAGCCGCCCCGGCTCAGGGAGAGGAAAGGGCAGAAAGCCGCGCCCCCAATCCCTGCTCCGTCCGGGTAGGTCCCCTCCCCCCGCGCGTCCAGTCTTCCCAGTTCCAGCTAAGGCTCTGCCAGTCCGGAGAGCCCCTATCTCTCCCATCTCTGCTCTAGATGCAGCCCAGAAGGGCGTGGGAGTAGCACCTGAGAATAACGGTCTCCTTGTGCGGATCTGGGGAGCCCCCTGCAGGGTGAGAGCGGAGAAGAGGAAAAGAAGCTGCGGCTGGAAGCCTGCACCTGGGGGAGTGAGACCACAGTTATCTTGGCCGCTCCAGCCTGGGAGCGGGAGACCTTGGCGCGCACCATAGCAGGGACACCGCGGGAGGAGGCGCAGAGGGACAGCTTCCTTTTTTTCTTTCCCCTCCGACCTCTCACCTCGGACTTGGTTTTCTCCTAACAGAAAGACACTTTTCCCCTCTCCTCTAGTCTCCTCCACCCCGCAGAGTTGGGGTTGGGTGGGGGGAAAACAGGAAAAGTGGTAGCTCCTTCCAACTTTGTCGTTTCGTCCCCTAAGGAGGCCCCGAGGCCCTGACCTGCGGGGGCAGCAGCCCAGTGCAGAGCCAACTCAATGGAGGCCTTTTGCAGCCAGGGTGTGGGAGATAAGTAAGACTGAGGGGGCTCCCAGGCCTGCCGGAGCCCCTCCTGAGCCTGTCCCTTGTTCTGCCCACTCTGCTGCAGGTGGCAACCAGAGGAAAGGGCCACAATGTTCCACGGCCAAGGAGGAAAGAAGGAATGCCCCTTTTCCCATCTCTAGGTAGGAGGAAGGCTTCAGGGCAGAAGCAAAAGGAATTATTTCTTCCCTGGACAGGTTTTCCTAACAAAGTAACCTGGAAAACTATGGCAATTAATCAGAGGAAATCCGTACCCCTCCCTCTCCCCCCACCTCCCCACTCCATACACAATTAGGTGGTGTAATGGAAAGTATATAGGGCTTAGAATCAGGAGTCCTGAATTCTAGTCCCAGCCATGCCACTTTAAATTGTGAGAGTTTAAATTGCTTTTCCTCCTGGGGGAAGTCCAGCTCTCAGATGTAAAATGAGGGTGGCAGTGGGGGTGGGGAGGGTTGGAGGAATGTCATCTCTCAAGTTTTCTTTCAGTTCTAAC
|
Task1_train_17588
|
The gene DHH (desert hedgehog signaling molecule) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
|
Pathogenic; 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
|
TATGGGTTGGGATGCCCCTTCTGAAGGGAGGAAAAGGGTCCCAAAGACCCTGCTGAGGAAGGAGGGGGAGCCGGAAGTAAGCTGTTAACTCAGGTTGGCCACCTTTATCCCCCTCTCTGGAGGTGAATCACCCTCTGAATGGAAGTGTTTTCCAGTAAGCTCCTGAAAGCCTTCCCTTTATTAGCCCACCTTGCAGGAAAACGTCAGATGTCAGACTGGCTGGCTGTGTCAGACAGTGTTAATGCCATGCCCCAGCCCCTCACCTTGGCAAGCTGGGCAAGGGAATCATTATATTACAATTTATAAATAAGAAATAAAATAAAATTATCGGGTGGGGCTGAAGCACTGGGGGAGAGGCTAAATAGTCCTCTTTAAGGAGTGCGCACCATCAGCCCTACCTACCTAGGACCCGGTATCACCTCCTCTCAGTACGAGGTTGCCCCTAAGCCAGGCATAGCCCCATTTTCTCCCTCCCCCTCCCTCTCCCTCCCTTCCAGTCGGCATCGTCTGCTGCCCACAGCCCCATATCTCAGCCAGCAGGCCCTCGTTTCCTCGGGCGCTTCGAGGTTTCTATGCCTGGGACGCTCAGCCCAGTAGCTCCTCCGCTAAGCGGTAGAGGAGCCGAGAGTACCAATGCATGCCAGTCGGCTGGACGGCCCCGCCGGGGAGCAGCGCCCCTAGCGCGTGCAGCAGTCTCAAGGGGGCAAAAGCGCGGTGCGCCCACTGGTGACTCTCCAGAACCGCGTAGCAAGAGGCCAGGACATCGTTCACCAGCAGCGTCCCGTGCGCGGTGAGCGGCGCGAACACGCCCACGGCTTCCTCCCGCGCCACACGGGCCACGCGCGCTGGCCGAAGCGCATCCCCGCCGGGCGCCAGCACCGAGTCCCCAGCGCGTAGCCGGCGCGCGAACACCGGTGCAAAGTCGCCTGGCGCGGGCGCCGGCCCTCGAGCGGCAAACACCAGGTGCCAGGGCGTGAGCAACAGTTTGCGTGGAGGCCACTCGGTCTCCACAGCCACAAATGAAGCCCGGCGCTGCAAGTCCCGGTCCAGGAAGAGCAGCACCGGCGTGGGCACCACCCGGCCTGACGCATCGGCCGCCAAAACCCAGTCTCCGCGGTGCAGTTCCCGCAGCCCTTTCCGCTCGCCGCTCCACAGGCGCACAGTTGCATTTCCCGGAAAGCAGCCGCCCGCCCGGACCGCCAGTGAGTTATCTGCAGGGAACAACCACAGGGAGGATTGAATCAAGACCAGCGGTTCCAGAACGATTCTCAAGGCCAGCGCAGATATCGCCAGTCATGGACAACACAATTTTCCGTTAATCTGACTGGCCCCAACCTGGGCAGAAAAGGAAGGGCGGTTTTTCTTTCTTTTCTTTTCCTTTTTCTTCTCTTTTCTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATTTTGAGATAGAATCTCGCTCTGTCGCCCAGTAGATGGAGTGCAGTGGCACCATCTCGGCTCACTGCAACTTCTACCTCCCGGGTTCAAGTGATTCTCGTGCCTCAGCCTCACGAGTAGCCGGGATTACAGGCATACACCACCACGCCCAACTAATTTTCGTATTTATAATAGAGACGGGATTTCACCATGTTGGCTAGGCTGATCTCGAACTCCTGACCTCAAGTGATCCGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTAGAGGCGTGAGGCACCGCCTCGGCCTGGACGGGTGGTTTTCAACACTAAAGCCCGCTTGGTCTCCCCTAGGGTGGCAACAGTACTACTGCAGACTCAGTTTCCCGGAGGGAGCCCCCTTTGGGCGGATTTTACCACCCTCCTCCTACTGTACCAGCTTTGACCGACACGTGGACGTGGTTGCGGGACTCGTAGTAGACCCAGTCGAAGCCGGCTTCCACTGCGAGGCGCGCCAGCAACCCATACTTGTTGCGGTCGCGGTCAGACGTAGTGATGTCCAAAGCACGGCCTTCGTAGTGGAGTGAATCCTGAGCGTGGTGGCCGTCCTCGTCCCAGCCCTCAGTCACTCGTAGGCGCACTCCGGGCCACATGTTCATCACGGCAATGGCCAAAGCGTTCACCCGCTCCTTACAACGCTGGCGGGGAATAAAGGAGTCAGTCTCCCCACCACCACCCTTGGGGCAAAAGGGACCTGGATAGGAGGGTTGATTCTTTGTTATTCCGGCCCTACTCTTACCCCTCCCAGCTTTTGAGTGTCCTGGAGAAATGAGAATCTGAGTCGATGGTAGTCACCAATCTGCACTCTGTTCCCAGGACGTCGTTGGAGAACTGTGGGCTCACCTCTGAGGTTGAGAGGGGGTGCCCATACCTAGCTCCTTCCCCATTTTTAATGCCCGTCCCTCACCCCTATTGGTTCAGGGACAGCGGCTCAACCTGGGAGAAGGACAGAGTTAGGAGGGCGAATGGAAGCGTGGTCAGGGAGGGCCTGGTTGCTCCCGGAGAGCCCCTGTTTGAGCCTGGCCCCCGCCCCAGGCACCGGCTCCCCTCCCTCCGCCTGATTCATCTTTTGTTTCATTGCCTTCCCTGGCACCGGGCATCGCTTCCTTCCTTCCTTCCTCCTCCTCCTTTGGGCCCTTAGCATTAACCCCTTCGTGCTCTGGGTGCCCCCCAGAGAGGTGCCCAAGAGGAGCTGTGCGGGATCAAGGCTGCTGGAAAAAGGATTGGGGTGGCGGGGGTTGCGCGAAGTACAATGGCCATTATCCGGGATGACTTAACCGAGCGAGAATCCTGAGCCCAGGCCGGGAACGCGCTGGGAGAAGCGGACTCAGCAGCTCCGGCCACAAAGGCGCTTTTCAGCCGCCCCGGCTCAGGGAGAGGAAAGGGCAGAAAGCCGCGCCCCCAATCCCTGCTCCGTCCGGGTAGGTCCCCTCCCCCCGCGCGTCCAGTCTTCCCAGTTCCAGCTAAGGCTCTGCCAGTCCGGAGAGCCCCTATCTCTCCCATCTCTGCTCTAGATGCAGCCCAGAAGGGCGTGGGAGTAGCACCTGAGAATAACGGTCTCCTTGTGCGGATCTGGGGAGCCCCCTGCAGGGTGAGAGCGGAGAAGAGGAAAAGAAGCTGCGGCTGGAAGCCTGCACCTGGGGGAGTGAGACCACAGTTATCTTGGCCGCTCCAGCCTGGGAGCGGGAGACCTTGGCGCGCACCATAGCAGGGACACCGCGGGAGGAGGCGCAGAGGGACAGCTTCCTTTTTTTCTTTCCCCTCCGACCTCTCACCTCGGACTTGGTTTTCTCCTAACAGAAAGACACTTTTCCCCTCTCCTCTAGTCTCCTCCACCCCGCAGAGTTGGGGTTGGGTGGGGGGAAAACAGGAAAAGTGGTAGCTCCTTCCAACTTTGTCGTTTCGTCCCCTAAGGAGGCCCCGAGGCCCTGACCTGCGGGGGCAGCAGCCCAGTGCAGAGCCAACTCAATGGAGGCCTTTTGCAGCCAGGGTGTGGGAGATAAGTAAGACTGAGGGGGCTCCCAGGCCTGCCGGAGCCCCTCCTGAGCCTGTCCCTTGTTCTGCCCACTCTGCTGCAGGTGGCAACCAGAGGAAAGGGCCACAATGTTCCACGGCCAAGGAGGAAAGAAGGAATGCCCCTTTTCCCATCTCTAGGTAGGAGGAAGGCTTCAGGGCAGAAGCAAAAGGAATTATTTCTTCCCTGGACAGGTTTTCCTAACAAAGTAACCTGGAAAACTATGGCAATTAATCAGAGGAAATCCGTACCCCTCCCTCTCCCCCCACCTCCCCACTCCATACACAATTAGGTGGTGTAATGGAAAGTATATAGGGCTTAGAATCAGGAGTCCTGAATTCTAGTCCCAGCCATGCCACTTTAAATTGTGAGAGTTTAAATTGCTTTTCCTCCTGGGGGAAGTCCAGCTCTCAGATGTAAAATGAGGGTGGCAGTGGGGGTGGGGAGGGTTGGAGGAATGTCATCTCTCAAGTTTTCTTTCAGTTCTAACATTCAAGATCACTGGCCAGGCTGGATGAAGTGGCTCACACCTGTAATCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCCCTTGAGCTCAGGAGTTCAAGACTAGCCTAGGCAA
|
TATGGGTTGGGATGCCCCTTCTGAAGGGAGGAAAAGGGTCCCAAAGACCCTGCTGAGGAAGGAGGGGGAGCCGGAAGTAAGCTGTTAACTCAGGTTGGCCACCTTTATCCCCCTCTCTGGAGGTGAATCACCCTCTGAATGGAAGTGTTTTCCAGTAAGCTCCTGAAAGCCTTCCCTTTATTAGCCCACCTTGCAGGAAAACGTCAGATGTCAGACTGGCTGGCTGTGTCAGACAGTGTTAATGCCATGCCCCAGCCCCTCACCTTGGCAAGCTGGGCAAGGGAATCATTATATTACAATTTATAAATAAGAAATAAAATAAAATTATCGGGTGGGGCTGAAGCACTGGGGGAGAGGCTAAATAGTCCTCTTTAAGGAGTGCGCACCATCAGCCCTACCTACCTAGGACCCGGTATCACCTCCTCTCAGTACGAGGTTGCCCCTAAGCCAGGCATAGCCCCATTTTCTCCCTCCCCCTCCCTCTCCCTCCCTTCCAGTCGGCATCGTCTGCTGCCCACAGCCCCATATCTCAGCCAGCAGGCCCTCGTTTCCTCGGGCGCTTCGAGGTTTCTATGCCTGGGACGCTCAGCCCAGTAGCTCCTCCGCTAAGCGGTAGAGGAGCCGAGAGTACCAATGCATGCCAGTCGGCTGGACGGCCCCGCCGGGGAGCAGCGCCCCTAGCGCGTGCAGCAGTCTCAAGGGGGCAAAAGCGCGGTGCGCCCACTGGTGACTCTCCAGAACCGCGTAGCAAGAGGCCAGGACATCGTTCACCAGCAGCGTCCCGTGCGCGGTGAGCGGCGCGAACACGCCCACGGCTTCCTCCCGCGCCACACGGGCCACGCGCGCTGGCCGAAGCGCATCCCCGCCGGGCGCCAGCACCGAGTCCCCAGCGCGTAGCCGGCGCGCGAACACCGGTGCAAAGTCGCCTGGCGCGGGCGCCGGCCCTCGAGCGGCAAACACCAGGTGCCAGGGCGTGAGCAACAGTTTGCGTGGAGGCCACTCGGTCTCCACAGCCACAAATGAAGCCCGGCGCTGCAAGTCCCGGTCCAGGAAGAGCAGCACCGGCGTGGGCACCACCCGGCCTGACGCATCGGCCGCCAAAACCCAGTCTCCGCGGTGCAGTTCCCGCAGCCCTTTCCGCTCGCCGCTCCACAGGCGCACAGTTGCATTTCCCGGAAAGCAGCCGCCCGCCCGGACCGCCAGTGAGTTATCTGCAGGGAACAACCACAGGGAGGATTGAATCAAGACCAGCGGTTCCAGAACGATTCTCAAGGCCAGCGCAGATATCGCCAGTCATGGACAACACAATTTTCCGTTAATCTGACTGGCCCCAACCTGGGCAGAAAAGGAAGGGCGGTTTTTCTTTCTTTTCTTTTCCTTTTTCTTCTCTTTTCTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATTTTGAGATAGAATCTCGCTCTGTCGCCCAGTAGATGGAGTGCAGTGGCACCATCTCGGCTCACTGCAACTTCTACCTCCCGGGTTCAAGTGATTCTCGTGCCTCAGCCTCACGAGTAGCCGGGATTACAGGCATACACCACCACGCCCAACTAATTTTCGTATTTATAATAGAGACGGGATTTCACCATGTTGGCTAGGCTGATCTCGAACTCCTGACCTCAAGTGATCCGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTAGAGGCGTGAGGCACCGCCTCGGCCTGGACGGGTGGTTTTCAACACTAAAGCCCGCTTGGTCTCCCCTAGGGTGGCAACAGTACTACTGCAGACTCAGTTTCCCGGAGGGAGCCCCCTTTGGGCGGATTTTACCACCCTCCTCCTACTGTACCAGCTTTGACCGACACGTGGACGTGGTTGCGGGACTCGTAGTAGACCCAGTCGAAGCCGGCTTCCACTGCGAGGCGCGCCAGCAACCCATACTTGTTGCGGTCGCGGTCAGACGTAGTGATGTCCAAAGCACGGCCTTCGTAGTGGAGTGAATCCTGAGCGTGGTGGCCGTCCTCGTCCCAGCCCTCAGTCACTTGTAGGCGCACTCCGGGCCACATGTTCATCACGGCAATGGCCAAAGCGTTCACCCGCTCCTTACAACGCTGGCGGGGAATAAAGGAGTCAGTCTCCCCACCACCACCCTTGGGGCAAAAGGGACCTGGATAGGAGGGTTGATTCTTTGTTATTCCGGCCCTACTCTTACCCCTCCCAGCTTTTGAGTGTCCTGGAGAAATGAGAATCTGAGTCGATGGTAGTCACCAATCTGCACTCTGTTCCCAGGACGTCGTTGGAGAACTGTGGGCTCACCTCTGAGGTTGAGAGGGGGTGCCCATACCTAGCTCCTTCCCCATTTTTAATGCCCGTCCCTCACCCCTATTGGTTCAGGGACAGCGGCTCAACCTGGGAGAAGGACAGAGTTAGGAGGGCGAATGGAAGCGTGGTCAGGGAGGGCCTGGTTGCTCCCGGAGAGCCCCTGTTTGAGCCTGGCCCCCGCCCCAGGCACCGGCTCCCCTCCCTCCGCCTGATTCATCTTTTGTTTCATTGCCTTCCCTGGCACCGGGCATCGCTTCCTTCCTTCCTTCCTCCTCCTCCTTTGGGCCCTTAGCATTAACCCCTTCGTGCTCTGGGTGCCCCCCAGAGAGGTGCCCAAGAGGAGCTGTGCGGGATCAAGGCTGCTGGAAAAAGGATTGGGGTGGCGGGGGTTGCGCGAAGTACAATGGCCATTATCCGGGATGACTTAACCGAGCGAGAATCCTGAGCCCAGGCCGGGAACGCGCTGGGAGAAGCGGACTCAGCAGCTCCGGCCACAAAGGCGCTTTTCAGCCGCCCCGGCTCAGGGAGAGGAAAGGGCAGAAAGCCGCGCCCCCAATCCCTGCTCCGTCCGGGTAGGTCCCCTCCCCCCGCGCGTCCAGTCTTCCCAGTTCCAGCTAAGGCTCTGCCAGTCCGGAGAGCCCCTATCTCTCCCATCTCTGCTCTAGATGCAGCCCAGAAGGGCGTGGGAGTAGCACCTGAGAATAACGGTCTCCTTGTGCGGATCTGGGGAGCCCCCTGCAGGGTGAGAGCGGAGAAGAGGAAAAGAAGCTGCGGCTGGAAGCCTGCACCTGGGGGAGTGAGACCACAGTTATCTTGGCCGCTCCAGCCTGGGAGCGGGAGACCTTGGCGCGCACCATAGCAGGGACACCGCGGGAGGAGGCGCAGAGGGACAGCTTCCTTTTTTTCTTTCCCCTCCGACCTCTCACCTCGGACTTGGTTTTCTCCTAACAGAAAGACACTTTTCCCCTCTCCTCTAGTCTCCTCCACCCCGCAGAGTTGGGGTTGGGTGGGGGGAAAACAGGAAAAGTGGTAGCTCCTTCCAACTTTGTCGTTTCGTCCCCTAAGGAGGCCCCGAGGCCCTGACCTGCGGGGGCAGCAGCCCAGTGCAGAGCCAACTCAATGGAGGCCTTTTGCAGCCAGGGTGTGGGAGATAAGTAAGACTGAGGGGGCTCCCAGGCCTGCCGGAGCCCCTCCTGAGCCTGTCCCTTGTTCTGCCCACTCTGCTGCAGGTGGCAACCAGAGGAAAGGGCCACAATGTTCCACGGCCAAGGAGGAAAGAAGGAATGCCCCTTTTCCCATCTCTAGGTAGGAGGAAGGCTTCAGGGCAGAAGCAAAAGGAATTATTTCTTCCCTGGACAGGTTTTCCTAACAAAGTAACCTGGAAAACTATGGCAATTAATCAGAGGAAATCCGTACCCCTCCCTCTCCCCCCACCTCCCCACTCCATACACAATTAGGTGGTGTAATGGAAAGTATATAGGGCTTAGAATCAGGAGTCCTGAATTCTAGTCCCAGCCATGCCACTTTAAATTGTGAGAGTTTAAATTGCTTTTCCTCCTGGGGGAAGTCCAGCTCTCAGATGTAAAATGAGGGTGGCAGTGGGGGTGGGGAGGGTTGGAGGAATGTCATCTCTCAAGTTTTCTTTCAGTTCTAACATTCAAGATCACTGGCCAGGCTGGATGAAGTGGCTCACACCTGTAATCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCCCTTGAGCTCAGGAGTTCAAGACTAGCCTAGGCAA
|
Task1_train_17589
|
The following genetic variant occurs in DHH (desert hedgehog signaling molecule) on Chromosome 12. Classify its clinical effect — pathogenic or benign — and list any associated condition.
|
Pathogenic; 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
|
GGACACCGCGGGAGGAGGCGCAGAGGGACAGCTTCCTTTTTTTCTTTCCCCTCCGACCTCTCACCTCGGACTTGGTTTTCTCCTAACAGAAAGACACTTTTCCCCTCTCCTCTAGTCTCCTCCACCCCGCAGAGTTGGGGTTGGGTGGGGGGAAAACAGGAAAAGTGGTAGCTCCTTCCAACTTTGTCGTTTCGTCCCCTAAGGAGGCCCCGAGGCCCTGACCTGCGGGGGCAGCAGCCCAGTGCAGAGCCAACTCAATGGAGGCCTTTTGCAGCCAGGGTGTGGGAGATAAGTAAGACTGAGGGGGCTCCCAGGCCTGCCGGAGCCCCTCCTGAGCCTGTCCCTTGTTCTGCCCACTCTGCTGCAGGTGGCAACCAGAGGAAAGGGCCACAATGTTCCACGGCCAAGGAGGAAAGAAGGAATGCCCCTTTTCCCATCTCTAGGTAGGAGGAAGGCTTCAGGGCAGAAGCAAAAGGAATTATTTCTTCCCTGGACAGGTTTTCCTAACAAAGTAACCTGGAAAACTATGGCAATTAATCAGAGGAAATCCGTACCCCTCCCTCTCCCCCCACCTCCCCACTCCATACACAATTAGGTGGTGTAATGGAAAGTATATAGGGCTTAGAATCAGGAGTCCTGAATTCTAGTCCCAGCCATGCCACTTTAAATTGTGAGAGTTTAAATTGCTTTTCCTCCTGGGGGAAGTCCAGCTCTCAGATGTAAAATGAGGGTGGCAGTGGGGGTGGGGAGGGTTGGAGGAATGTCATCTCTCAAGTTTTCTTTCAGTTCTAACATTCAAGATCACTGGCCAGGCTGGATGAAGTGGCTCACACCTGTAATCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCCCTTGAGCTCAGGAGTTCAAGACTAGCCTAGGCAACATGGCAAGACCCCGTCTCTACAAAAAATAAAAAATAAATCACTCGCCAGAGGTGGTCCTTCTCTTCCACCTCACTCTAGGTGGTTCCAATGCTCAAAAATGGTAGTTGAATTTATCCTAATTATGTAATTCCAAGGAAAGCCCCTGAGATAGGCAGAGCTTGGAAGACTTAGGAGCCCTCTGATTCTCAGGTGGGTCCATCTGTTATTCTCACTGAGGATTACTTTTTAACCCCAAGATTATCGTTTAGACCCTAGGATAGCCCTAGAATAGACCCTAGAATAGATGTGTCCTGGTTCTAGGACACGTTTCCCATGCCAAAAGCAATGTCTGCCCAGCCCCTCCTCAGGTAGATGGTCTGGTGACCTGACCCTTGGCCACCCCTGTCCCAGCCCTTTTCAGTCTCTTCTTTTCGGCCCACAGAGCTTTTCTACAATCAGGTCAGGAGCCAGGCTTCTGTCTGCTACCTAGCCAGCTCCTGGCCCCCAGCTCACCCCAGCCCTTCCTGCCTGGCTGGGTGGCTGACCCCCGGTCCACGCCTCAGCCATTTCCCGTCTCGCCTGCCGCCATCCTCCTTTCCCCGCCCTCGCTGCCTCTACCAGCTTCACTCTCACTAGTCAGTCCCTCCTCCCCTCCCCATCCCAGACTATTCTAGTCGGGAGCCGTCCTAATTACTCTGTCCAGACTGCAAGGATTTTTCCCCCCCCTGGGGCTGGTGACAAGGGAAATCTCTAAGGCTAAACTCTCTGTAGGTGAAGCTGGACTCACCCACCTGGGCTGCCATAGGAAAACGGAGGAGCTGGCAGTGCCCCGGCGCAGGTAGGGAGAGGCCCTCCTTACCTCGGTCATCAGGCGGTCGGCTCCACTGTTCTCCTCATCCTTGAAGATGATGTCGGGGTTGTAGTTGGGCACGAGGTCCCGGAAGCGCTCGGAGCCCCTTGCCACCCTCCCCTCCGCTGGCCCACTGGCGCCCAGGGTCCGCTCTGGCACGCCGGGCACAAATTGCTTGTAGAGTAGCGGCACGAGCTGCTTGCGCGCATAGCGGCGCCGGCCAACCGGCCCCCGGCCCGGCCCGCAGCTCTGGGCTGGCAGCGCCAGAAGTGCCAAGCAGCACAGGGGCAGTAGATTGGTCAGGAGAGCCATGGATACAGCGGACCTCGGCCAAAAGGGAGCGTTCTTGTCCTCACTAACTCTCCTGTCAGTTAGGCATCTCCACAGGCACCAGAGAGGGCAGCAGGCACAGCTGCCCCCAGAGTGCCCTAGAGCTCTTGTGGCTCCGTGCACCTGGCTGCTGCTAGCTCTGCCCACGTGCCCCGGGAGCGGGCGGGGGGTGTCTAGGACCTGCTACTGACAAACCATCATAGCAGGGAAGGGGGGTCGTGGGTGAGTGCCAGCCCAGCCCGTCTCTGCTGCAGGACTCTGGTGCTGCCAGAACGCCCGGACTCCGGACTCCGCCTTAAGTGGCCCCTGGCCCCGCCCTCCGCCCTTCTCCCAAGACCGTCCCACCCCCTCCCACCCGGGCGGGGGATCTAGCCGGTCACTGCTGGTCCATTTTGCGACTGAAGTGTGTCCCATCCTGGAAACCAGGCAGACACCTGCCTAGGAAATACTTGTAGCTTTACAGTCCTTGGCTGCCTAAACATCCTTCTACCTCCAAGCTTAAACTTGGAACCAAACCACCCTCCTCTGATACTTGAATTGGAATTTTTACTCTCTCAAAGCCTACCCTGGCAGGCCATGCCCTCCGCTGTCATCCAGGAAGTATGGGTTCCAATTTCTGCCCAAGACCAGCCAAGCCCTTTGGGCATACAACCAGAGCCTCCCTTCTCTGTAGTCCTCCCCAGATCTCCCCGACTTCCATCTCTCCTCACATTCAGCATTAAGCAGGACTGGGAGGTGAGGATACCAGGGGCCCATTTCTCTACTAACTTTGCAGTCTCCTTTGGAACTTCCCCAGAACCAGGAACAGAGCTTGGTACTTATTGTCTCATTTAGGACTTCCAACTTTTTTCCCCTTCTCTTCTTTGCCAGGCATCTAATAGCTGCTGTTTTTCAAATGAATGACTTCTCAGTTGGAAGCTGCTGAAGGGCAGTGGACACTCAAAAGTCTTTGTAAGAGGTGAGGATCACTTCCCTTAACCGTCCATCTAGGCACCTCTCCAGCTTTCTCCCTCTCTGGACTCCCGGGGCTCCATTTTCAGCCACTCAGATCTCATCTCAGAGGCACCACGTCCAATTTCTTTTGTTTAGAAGTCATTTCTTCTAAGAAGCCTTCCTTGATGTCCCAACACTGCCCACCTGTGTTCCCTCGAGAACCATTACTTAACTGCAGTGTTAGAACAGTATTAGAATTATCTGGCACCTTACTAGACAAAGCAATCTTAAGCACACACATATTTATCATGTATCTCCAAGGTTAAGTGCCTACTCTACAGAAGGGTGCTTTGCAAGCATTTGTGGAATCTACACTTTGTGTTTCATATTCACCCTCCCCTCACCACACTCTATGGCTAGTACTCATAGCAACTTTGTGTACATCAGAAAAAACCAGGCCAGGCACAGTGGCTCACTCCTGTAATCCCAACACTTTGGGGGCGAGGCAAGGACTGCTTGAGGCCATGAGTTGAAGACCAACTTGGTCAACATAGTGACACCCCGTTTCAAAAAAAAAAAATTAATTAGTGGGAGGTAGTGGTACATGCCTGTAGTCTTAGGTACTCAGGAGGCTGAGGAAGGAGGATCACTTGGGTGCAAGAGTTCAAGGCTGTAGAGTGAGCTAAGATCATGCCACTGCACTCTAACCTGGGTGACAGAGTGAGGACCCCCCCCCCCAAAAAAAAGATGGCTGGGTGTTGTGGCTAACCCCTGTAATTCCATCATTTGGGGAGTCCAAGGTAGGTGGATCACTTGAGCTCAGGAGTTCAAGACCAGCCCAGGCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTAGCATGTGTCTGTTGTCCTAGCTATTCTGGAGCCTGAGCTGGAAGAATGGCTTGAGCCCAGAATGCGGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCAGGGTGATAGAGCCAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAAAGAAGAAGAAAAAAGAAAAAAAAAGCACCCCTTCCTCAAGATG
|
GGACACCGCGGGAGGAGGCGCAGAGGGACAGCTTCCTTTTTTTCTTTCCCCTCCGACCTCTCACCTCGGACTTGGTTTTCTCCTAACAGAAAGACACTTTTCCCCTCTCCTCTAGTCTCCTCCACCCCGCAGAGTTGGGGTTGGGTGGGGGGAAAACAGGAAAAGTGGTAGCTCCTTCCAACTTTGTCGTTTCGTCCCCTAAGGAGGCCCCGAGGCCCTGACCTGCGGGGGCAGCAGCCCAGTGCAGAGCCAACTCAATGGAGGCCTTTTGCAGCCAGGGTGTGGGAGATAAGTAAGACTGAGGGGGCTCCCAGGCCTGCCGGAGCCCCTCCTGAGCCTGTCCCTTGTTCTGCCCACTCTGCTGCAGGTGGCAACCAGAGGAAAGGGCCACAATGTTCCACGGCCAAGGAGGAAAGAAGGAATGCCCCTTTTCCCATCTCTAGGTAGGAGGAAGGCTTCAGGGCAGAAGCAAAAGGAATTATTTCTTCCCTGGACAGGTTTTCCTAACAAAGTAACCTGGAAAACTATGGCAATTAATCAGAGGAAATCCGTACCCCTCCCTCTCCCCCCACCTCCCCACTCCATACACAATTAGGTGGTGTAATGGAAAGTATATAGGGCTTAGAATCAGGAGTCCTGAATTCTAGTCCCAGCCATGCCACTTTAAATTGTGAGAGTTTAAATTGCTTTTCCTCCTGGGGGAAGTCCAGCTCTCAGATGTAAAATGAGGGTGGCAGTGGGGGTGGGGAGGGTTGGAGGAATGTCATCTCTCAAGTTTTCTTTCAGTTCTAACATTCAAGATCACTGGCCAGGCTGGATGAAGTGGCTCACACCTGTAATCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCCCTTGAGCTCAGGAGTTCAAGACTAGCCTAGGCAACATGGCAAGACCCCGTCTCTACAAAAAATAAAAAATAAATCACTCGCCAGAGGTGGTCCTTCTCTTCCACCTCACTCTAGGTGGTTCCAATGCTCAAAAATGGTAGTTGAATTTATCCTAATTATGTAATTCCAAGGAAAGCCCCTGAGATAGGCAGAGCTTGGAAGACTTAGGAGCCCTCTGATTCTCAGGTGGGTCCATCTGTTATTCTCACTGAGGATTACTTTTTAACCCCAAGATTATCGTTTAGACCCTAGGATAGCCCTAGAATAGACCCTAGAATAGATGTGTCCTGGTTCTAGGACACGTTTCCCATGCCAAAAGCAATGTCTGCCCAGCCCCTCCTCAGGTAGATGGTCTGGTGACCTGACCCTTGGCCACCCCTGTCCCAGCCCTTTTCAGTCTCTTCTTTTCGGCCCACAGAGCTTTTCTACAATCAGGTCAGGAGCCAGGCTTCTGTCTGCTACCTAGCCAGCTCCTGGCCCCCAGCTCACCCCAGCCCTTCCTGCCTGGCTGGGTGGCTGACCCCCGGTCCACGCCTCAGCCATTTCCCGTCTCGCCTGCCGCCATCCTCCTTTCCCCGCCCTCGCTGCCTCTACCAGCTTCACTCTCACTAGTCAGTCCCTCCTCCCCTCCCCATCCCAGACTATTCTAGTCGGGAGCCGTCCTAATTACTCTGTCCAGACTGCAAGGATTTTTCCCCCCCCTGGGGCTGGTGACAAGGGAAATCTCTAAGGCTAAACTCTCTGTAGGTGAAGCTGGACTCACCCACCTGGGCTGCCATAGGAAAACGGAGGAGCTGGCAGTGCCCCGGCGCAGGTAGGGAGAGGCCCTCCTTACCTCGGTCATCAGGCGGTCGGCTCCACTGTTCTCCTCATCCTTGAAGATGATGTCGGGGTTGTAGTTGGGCACGAGGTCCCGGAAGCGCTCGGAGCCCCTTGCCACCCTCCCCTCCGCTGGCCCACTGGCGCCCAGGGTCCGCTCTGGCACGCCGGGCACAAATTGCTTGTAGAGTAGCGGCACGAGCTGCTTGCGCGCATAGCGGCGCCGGCCAACCGGCCCCCGGCCCGGCCCGCAGCTCTGGGCTGGCAGCGCCAGAAGTGCCAAGCAGCACAGGGGCAGTAGATTGGTCAGGAGAGCCGTGGATACAGCGGACCTCGGCCAAAAGGGAGCGTTCTTGTCCTCACTAACTCTCCTGTCAGTTAGGCATCTCCACAGGCACCAGAGAGGGCAGCAGGCACAGCTGCCCCCAGAGTGCCCTAGAGCTCTTGTGGCTCCGTGCACCTGGCTGCTGCTAGCTCTGCCCACGTGCCCCGGGAGCGGGCGGGGGGTGTCTAGGACCTGCTACTGACAAACCATCATAGCAGGGAAGGGGGGTCGTGGGTGAGTGCCAGCCCAGCCCGTCTCTGCTGCAGGACTCTGGTGCTGCCAGAACGCCCGGACTCCGGACTCCGCCTTAAGTGGCCCCTGGCCCCGCCCTCCGCCCTTCTCCCAAGACCGTCCCACCCCCTCCCACCCGGGCGGGGGATCTAGCCGGTCACTGCTGGTCCATTTTGCGACTGAAGTGTGTCCCATCCTGGAAACCAGGCAGACACCTGCCTAGGAAATACTTGTAGCTTTACAGTCCTTGGCTGCCTAAACATCCTTCTACCTCCAAGCTTAAACTTGGAACCAAACCACCCTCCTCTGATACTTGAATTGGAATTTTTACTCTCTCAAAGCCTACCCTGGCAGGCCATGCCCTCCGCTGTCATCCAGGAAGTATGGGTTCCAATTTCTGCCCAAGACCAGCCAAGCCCTTTGGGCATACAACCAGAGCCTCCCTTCTCTGTAGTCCTCCCCAGATCTCCCCGACTTCCATCTCTCCTCACATTCAGCATTAAGCAGGACTGGGAGGTGAGGATACCAGGGGCCCATTTCTCTACTAACTTTGCAGTCTCCTTTGGAACTTCCCCAGAACCAGGAACAGAGCTTGGTACTTATTGTCTCATTTAGGACTTCCAACTTTTTTCCCCTTCTCTTCTTTGCCAGGCATCTAATAGCTGCTGTTTTTCAAATGAATGACTTCTCAGTTGGAAGCTGCTGAAGGGCAGTGGACACTCAAAAGTCTTTGTAAGAGGTGAGGATCACTTCCCTTAACCGTCCATCTAGGCACCTCTCCAGCTTTCTCCCTCTCTGGACTCCCGGGGCTCCATTTTCAGCCACTCAGATCTCATCTCAGAGGCACCACGTCCAATTTCTTTTGTTTAGAAGTCATTTCTTCTAAGAAGCCTTCCTTGATGTCCCAACACTGCCCACCTGTGTTCCCTCGAGAACCATTACTTAACTGCAGTGTTAGAACAGTATTAGAATTATCTGGCACCTTACTAGACAAAGCAATCTTAAGCACACACATATTTATCATGTATCTCCAAGGTTAAGTGCCTACTCTACAGAAGGGTGCTTTGCAAGCATTTGTGGAATCTACACTTTGTGTTTCATATTCACCCTCCCCTCACCACACTCTATGGCTAGTACTCATAGCAACTTTGTGTACATCAGAAAAAACCAGGCCAGGCACAGTGGCTCACTCCTGTAATCCCAACACTTTGGGGGCGAGGCAAGGACTGCTTGAGGCCATGAGTTGAAGACCAACTTGGTCAACATAGTGACACCCCGTTTCAAAAAAAAAAAATTAATTAGTGGGAGGTAGTGGTACATGCCTGTAGTCTTAGGTACTCAGGAGGCTGAGGAAGGAGGATCACTTGGGTGCAAGAGTTCAAGGCTGTAGAGTGAGCTAAGATCATGCCACTGCACTCTAACCTGGGTGACAGAGTGAGGACCCCCCCCCCCAAAAAAAAGATGGCTGGGTGTTGTGGCTAACCCCTGTAATTCCATCATTTGGGGAGTCCAAGGTAGGTGGATCACTTGAGCTCAGGAGTTCAAGACCAGCCCAGGCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTAGCATGTGTCTGTTGTCCTAGCTATTCTGGAGCCTGAGCTGGAAGAATGGCTTGAGCCCAGAATGCGGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCAGGGTGATAGAGCCAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAAAGAAGAAGAAAAAAGAAAAAAAAAGCACCCCTTCCTCAAGATG
|
Task1_train_17590
|
The gene TUBA1A (tubulin alpha 1a) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
|
Pathogenic; Tubulinopathy
|
GTGAGACCCTGTCTCAAAAAATATATATATATATATGTGTATATATATATATATAAAATAACATTTCCCATTATAACATAGTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGTAATTCTCTCTGAGTAGCTGGGATTACAGGCGTGTGTCACCACGCCTGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTAATTAACACATTAGAGTGAATAAATGTATCAGGCTTTTCCAACATGACATTCAGCTTAAAATAGGTTTGGAAAGAAGGTAAAGAACTAAGTCTAGCATAGGGCTGCTTGCTTTGAGAGGAGATTTGTTTTGGGAACCCTGGGCAGAAGAGGCATAATGGCACTAGACACATACCAAGGAGCGGAGGGCACATGAAAAACTGATGCATTTGGAATATTCACCATTTTATGTTAGTTACATAAGATTCAGCAGCCAACCAGATTTTGGCTATGTGTTACCAACTTTCAACTCTAAAAAGTACTGGCAGTTTAAATAACTTTATTATAATAATGAGGTAAAAACTTAATAGTATGAGCCGGGCACAGTGGTTCACGCCTGTAATCCCAGCACTTAGGGAGGCCGAGGCAAGCGGATCACTGGAGGTCAGGAGTCTGAGACCAGCCTGACCATCATGGTGAAACCCAGTCTCCACTAAAAATACAAAAATTAGTCAGGTGTGGTGGTGGATGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAAGCTCTTGAACCCAGGAGGTTGAGGTTGCAGTGAGCCCAGATCGTACCACTGCACTCCAGCCTGGGCAACAGAACAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAAAGTACATGATGCTCTGTAATGGTAATCTTTAGATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATACTTTAAATACAAACGTCACTTCCTAGGATATGTATAAACCACAGGCAACACTTATTTTTTATTCTCAATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAATTGTATATGAGAGCATACACTGCTACATACAAATTAACTGATCAGACCACAACTTTTCAATGTTTAAAACAGAATAAGCTTCCCTGTAAAAGCAGCACCTTTGTGACGTTTTAACTTTAGTATTCCTCTCCTTCTTCCTCACCCTCTCCTTCAACAGAATCCACACCAACCTCCTCATAATCCTTCTCAAGGGCAGCCATGTCCTCACGGGCCTCTGAAAACTCACCTTCCTCCATCCCCTCCCCAACGTACCAGTGAACAAAGGCACGTTTGGCATACATCAGGTCAAACTTGTGGTCCAGGCGAGCCCAGGCCTCAGCAATGGCTGTGGTGTTGCTCAGCATGCACACAGCTCTCTGTACCTTGGCCAGGTCTCCACCAGGCACCACAGTGGGAGGCTGGTAGTTGATGCCAACCTTGAAGCCAGTGGGGCACCAATCCACAAACTGGATGGTACGCTTGGTCTTGATGGTGGCAATGGCAGCATTGACATCTTTGGGAACCACGTCACCACGGTACAACAGGCAGCAAGCCATGTATTTACCATGGCGAGGGTCACATTTCACCATCTGGTTGGCTGGCTCAAAGCAAGCATTGGTGATCTCTGCTACAGAAAGCTGTTCATGGTAGGCTTTCTCAGCAGAGATGACAGGGGCATATGTGGCCAGAGGGAAGTGGATGCGGGGATAGGGCACCAGGTTGGTCTGGAATTCTGTCAGGTCAACATTCAGGGCTCCATCAAATCTCAGGGAAGCAGTGATGGAGGACACAATTTGACCTATTAACCTATTCAGGTTAGTATAGGTTGGACGCTCAATATCGAGGTTTCTACGACAGATGTCATAGATGGCCTCATTGTCTACCATGAAGGCACAATCAGAGTGCTCCAGGGTGGTGTGGGTGGTGAGGATGGAGTTGTAGGGCTCAACTACAGCTGTGGAAACCTGGGGCGCCGGGTAAATAGAGAACTCCAGCTTGGACTTCTTGCCATAATCAACTGAGAGACGTTCCATGAGCAGCGAGGTGAACCCAGAACCAGTTCCCCCACCAAAGCTGTGGAAAACCAAGAAGCCCTGGAGACCCGTGCACTGGTCGGCCTATAACAAAAGAGAGGAACAGAGGAAAGGTTAAGTTTTTATTCTTTGTAGTACAATCATAGTAAATATATTTTCACTTTTCATACATCTTCCAGGACTTAGATCTTATTTTGACAAATGCTTTTTAAAAAATTCTCATTAACATTTACAAAATGACATCAAATAGTTCATTTTAACTGAATTTTAAAAACCCCAAAAGAATGACTCATTCCACTCTTTATTAAAATAACAGTTCAATTCTGTGTTTGAAAAAAAAAGCATTATTTCAAATGTGTTCTTTAGGCTCATTAATTTACTTTATTCTTGAAAAGAAACATACCAGCTTGCGAATTCGGTCCAACACGAGGTCAATGATCTCCTTGCCAATGGTGTAGTGCCCTCGGGCATAGTTATTGGCAGCATCTTCTTTGCCTGTGATAAGTTGCTCAGGGTGGAAGAGCTGGCGGTAGGTGCCAGTGCGAACTTCATCTGGAGAACATGATGGGGGAGGAGCAGGGGGGAGGAGGAGGAGGGACGAGGAGCGGGGAGGGAGAGTGGGTGAGTGACCAGCGGAGCCCCCCAGGACAGACCTCCTGTCCCAGCACCCTGGGATCTCACTTGGGTTACTGAGGTCAACTCACCAATGACTGTGGGTTCCAAGTCTACAAACACTGCCCGGGGCACATGCTTGCCAGCCCCCGTCTCACTGAAGAAGGTGTTGAAGGAATCATCTCCTCCCCCAATGGTCTTGTCACTTGGCATCTGGCCATCGGGCTGGATGCCGTGTTCCAGGCAGTAGAGCTCCCAGCAGGCATTGCCAATCTGGACACCAGCCTGGCCAACGTGGATGGAGATGCACTCACGCTGTGGGGAGGAAAAGTGAAAAAATCGTAAAATTAAGGTGTATTAGCATTTCAAACTTATAGGAAATTTCAAAAATATTTCTAATAATATACAGATATTTTTCTAAATTATTTGAGGTCATATCCCCAGCACGATACAAAGATTAAGGAAAATCACCTGCTACAAATGCTGCATATGGGTGTGGTCTGAATAATGATGTCGCCTTGGCCCTGTTCAGCACGTGGTACCAGCCCATTGTGCCTACTACCATGCTTGAATAGAAGATTTTTCATAT
|
GTGAGACCCTGTCTCAAAAAATATATATATATATATGTGTATATATATATATATAAAATAACATTTCCCATTATAACATAGTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGTAATTCTCTCTGAGTAGCTGGGATTACAGGCGTGTGTCACCACGCCTGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTAATTAACACATTAGAGTGAATAAATGTATCAGGCTTTTCCAACATGACATTCAGCTTAAAATAGGTTTGGAAAGAAGGTAAAGAACTAAGTCTAGCATAGGGCTGCTTGCTTTGAGAGGAGATTTGTTTTGGGAACCCTGGGCAGAAGAGGCATAATGGCACTAGACACATACCAAGGAGCGGAGGGCACATGAAAAACTGATGCATTTGGAATATTCACCATTTTATGTTAGTTACATAAGATTCAGCAGCCAACCAGATTTTGGCTATGTGTTACCAACTTTCAACTCTAAAAAGTACTGGCAGTTTAAATAACTTTATTATAATAATGAGGTAAAAACTTAATAGTATGAGCCGGGCACAGTGGTTCACGCCTGTAATCCCAGCACTTAGGGAGGCCGAGGCAAGCGGATCACTGGAGGTCAGGAGTCTGAGACCAGCCTGACCATCATGGTGAAACCCAGTCTCCACTAAAAATACAAAAATTAGTCAGGTGTGGTGGTGGATGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAAGCTCTTGAACCCAGGAGGTTGAGGTTGCAGTGAGCCCAGATCGTACCACTGCACTCCAGCCTGGGCAACAGAACAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAAAGTACATGATGCTCTGTAATGGTAATCTTTAGATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATACTTTAAATACAAACGTCACTTCCTAGGATATGTATAAACCACAGGCAACACTTATTTTTTATTCTCAATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAATTGTATATGAGAGCATACACTGCTACATACAAATTAACTGATCAGACCACAACTTTTCAATGTTTAAAACAGAATAAGCTTCCCTGTAAAAGCAGCACCTTTGTGACGTTTTAACTTTAGTATTCCTCTCCTTCTTCCTCACCCTCTCCTTCAACAGAATCCACACGAACCTCCTCATAATCCTTCTCAAGGGCAGCCATGTCCTCACGGGCCTCTGAAAACTCACCTTCCTCCATCCCCTCCCCAACGTACCAGTGAACAAAGGCACGTTTGGCATACATCAGGTCAAACTTGTGGTCCAGGCGAGCCCAGGCCTCAGCAATGGCTGTGGTGTTGCTCAGCATGCACACAGCTCTCTGTACCTTGGCCAGGTCTCCACCAGGCACCACAGTGGGAGGCTGGTAGTTGATGCCAACCTTGAAGCCAGTGGGGCACCAATCCACAAACTGGATGGTACGCTTGGTCTTGATGGTGGCAATGGCAGCATTGACATCTTTGGGAACCACGTCACCACGGTACAACAGGCAGCAAGCCATGTATTTACCATGGCGAGGGTCACATTTCACCATCTGGTTGGCTGGCTCAAAGCAAGCATTGGTGATCTCTGCTACAGAAAGCTGTTCATGGTAGGCTTTCTCAGCAGAGATGACAGGGGCATATGTGGCCAGAGGGAAGTGGATGCGGGGATAGGGCACCAGGTTGGTCTGGAATTCTGTCAGGTCAACATTCAGGGCTCCATCAAATCTCAGGGAAGCAGTGATGGAGGACACAATTTGACCTATTAACCTATTCAGGTTAGTATAGGTTGGACGCTCAATATCGAGGTTTCTACGACAGATGTCATAGATGGCCTCATTGTCTACCATGAAGGCACAATCAGAGTGCTCCAGGGTGGTGTGGGTGGTGAGGATGGAGTTGTAGGGCTCAACTACAGCTGTGGAAACCTGGGGCGCCGGGTAAATAGAGAACTCCAGCTTGGACTTCTTGCCATAATCAACTGAGAGACGTTCCATGAGCAGCGAGGTGAACCCAGAACCAGTTCCCCCACCAAAGCTGTGGAAAACCAAGAAGCCCTGGAGACCCGTGCACTGGTCGGCCTATAACAAAAGAGAGGAACAGAGGAAAGGTTAAGTTTTTATTCTTTGTAGTACAATCATAGTAAATATATTTTCACTTTTCATACATCTTCCAGGACTTAGATCTTATTTTGACAAATGCTTTTTAAAAAATTCTCATTAACATTTACAAAATGACATCAAATAGTTCATTTTAACTGAATTTTAAAAACCCCAAAAGAATGACTCATTCCACTCTTTATTAAAATAACAGTTCAATTCTGTGTTTGAAAAAAAAAGCATTATTTCAAATGTGTTCTTTAGGCTCATTAATTTACTTTATTCTTGAAAAGAAACATACCAGCTTGCGAATTCGGTCCAACACGAGGTCAATGATCTCCTTGCCAATGGTGTAGTGCCCTCGGGCATAGTTATTGGCAGCATCTTCTTTGCCTGTGATAAGTTGCTCAGGGTGGAAGAGCTGGCGGTAGGTGCCAGTGCGAACTTCATCTGGAGAACATGATGGGGGAGGAGCAGGGGGGAGGAGGAGGAGGGACGAGGAGCGGGGAGGGAGAGTGGGTGAGTGACCAGCGGAGCCCCCCAGGACAGACCTCCTGTCCCAGCACCCTGGGATCTCACTTGGGTTACTGAGGTCAACTCACCAATGACTGTGGGTTCCAAGTCTACAAACACTGCCCGGGGCACATGCTTGCCAGCCCCCGTCTCACTGAAGAAGGTGTTGAAGGAATCATCTCCTCCCCCAATGGTCTTGTCACTTGGCATCTGGCCATCGGGCTGGATGCCGTGTTCCAGGCAGTAGAGCTCCCAGCAGGCATTGCCAATCTGGACACCAGCCTGGCCAACGTGGATGGAGATGCACTCACGCTGTGGGGAGGAAAAGTGAAAAAATCGTAAAATTAAGGTGTATTAGCATTTCAAACTTATAGGAAATTTCAAAAATATTTCTAATAATATACAGATATTTTTCTAAATTATTTGAGGTCATATCCCCAGCACGATACAAAGATTAAGGAAAATCACCTGCTACAAATGCTGCATATGGGTGTGGTCTGAATAATGATGTCGCCTTGGCCCTGTTCAGCACGTGGTACCAGCCCATTGTGCCTACTACCATGCTTGAATAGAAGATTTTTCATAT
|
Task1_train_17591
|
Consider a variant on Chromosome 12 in gene TUBA1A (tubulin alpha 1a). Determine its clinical classification and disease relevance.
|
Pathogenic; Tubulinopathy
|
TATATATATATATATGTGTATATATATATATATAAAATAACATTTCCCATTATAACATAGTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGTAATTCTCTCTGAGTAGCTGGGATTACAGGCGTGTGTCACCACGCCTGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTAATTAACACATTAGAGTGAATAAATGTATCAGGCTTTTCCAACATGACATTCAGCTTAAAATAGGTTTGGAAAGAAGGTAAAGAACTAAGTCTAGCATAGGGCTGCTTGCTTTGAGAGGAGATTTGTTTTGGGAACCCTGGGCAGAAGAGGCATAATGGCACTAGACACATACCAAGGAGCGGAGGGCACATGAAAAACTGATGCATTTGGAATATTCACCATTTTATGTTAGTTACATAAGATTCAGCAGCCAACCAGATTTTGGCTATGTGTTACCAACTTTCAACTCTAAAAAGTACTGGCAGTTTAAATAACTTTATTATAATAATGAGGTAAAAACTTAATAGTATGAGCCGGGCACAGTGGTTCACGCCTGTAATCCCAGCACTTAGGGAGGCCGAGGCAAGCGGATCACTGGAGGTCAGGAGTCTGAGACCAGCCTGACCATCATGGTGAAACCCAGTCTCCACTAAAAATACAAAAATTAGTCAGGTGTGGTGGTGGATGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAAGCTCTTGAACCCAGGAGGTTGAGGTTGCAGTGAGCCCAGATCGTACCACTGCACTCCAGCCTGGGCAACAGAACAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAAAGTACATGATGCTCTGTAATGGTAATCTTTAGATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATACTTTAAATACAAACGTCACTTCCTAGGATATGTATAAACCACAGGCAACACTTATTTTTTATTCTCAATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAATTGTATATGAGAGCATACACTGCTACATACAAATTAACTGATCAGACCACAACTTTTCAATGTTTAAAACAGAATAAGCTTCCCTGTAAAAGCAGCACCTTTGTGACGTTTTAACTTTAGTATTCCTCTCCTTCTTCCTCACCCTCTCCTTCAACAGAATCCACACCAACCTCCTCATAATCCTTCTCAAGGGCAGCCATGTCCTCACGGGCCTCTGAAAACTCACCTTCCTCCATCCCCTCCCCAACGTACCAGTGAACAAAGGCACGTTTGGCATACATCAGGTCAAACTTGTGGTCCAGGCGAGCCCAGGCCTCAGCAATGGCTGTGGTGTTGCTCAGCATGCACACAGCTCTCTGTACCTTGGCCAGGTCTCCACCAGGCACCACAGTGGGAGGCTGGTAGTTGATGCCAACCTTGAAGCCAGTGGGGCACCAATCCACAAACTGGATGGTACGCTTGGTCTTGATGGTGGCAATGGCAGCATTGACATCTTTGGGAACCACGTCACCACGGTACAACAGGCAGCAAGCCATGTATTTACCATGGCGAGGGTCACATTTCACCATCTGGTTGGCTGGCTCAAAGCAAGCATTGGTGATCTCTGCTACAGAAAGCTGTTCATGGTAGGCTTTCTCAGCAGAGATGACAGGGGCATATGTGGCCAGAGGGAAGTGGATGCGGGGATAGGGCACCAGGTTGGTCTGGAATTCTGTCAGGTCAACATTCAGGGCTCCATCAAATCTCAGGGAAGCAGTGATGGAGGACACAATTTGACCTATTAACCTATTCAGGTTAGTATAGGTTGGACGCTCAATATCGAGGTTTCTACGACAGATGTCATAGATGGCCTCATTGTCTACCATGAAGGCACAATCAGAGTGCTCCAGGGTGGTGTGGGTGGTGAGGATGGAGTTGTAGGGCTCAACTACAGCTGTGGAAACCTGGGGCGCCGGGTAAATAGAGAACTCCAGCTTGGACTTCTTGCCATAATCAACTGAGAGACGTTCCATGAGCAGCGAGGTGAACCCAGAACCAGTTCCCCCACCAAAGCTGTGGAAAACCAAGAAGCCCTGGAGACCCGTGCACTGGTCGGCCTATAACAAAAGAGAGGAACAGAGGAAAGGTTAAGTTTTTATTCTTTGTAGTACAATCATAGTAAATATATTTTCACTTTTCATACATCTTCCAGGACTTAGATCTTATTTTGACAAATGCTTTTTAAAAAATTCTCATTAACATTTACAAAATGACATCAAATAGTTCATTTTAACTGAATTTTAAAAACCCCAAAAGAATGACTCATTCCACTCTTTATTAAAATAACAGTTCAATTCTGTGTTTGAAAAAAAAAGCATTATTTCAAATGTGTTCTTTAGGCTCATTAATTTACTTTATTCTTGAAAAGAAACATACCAGCTTGCGAATTCGGTCCAACACGAGGTCAATGATCTCCTTGCCAATGGTGTAGTGCCCTCGGGCATAGTTATTGGCAGCATCTTCTTTGCCTGTGATAAGTTGCTCAGGGTGGAAGAGCTGGCGGTAGGTGCCAGTGCGAACTTCATCTGGAGAACATGATGGGGGAGGAGCAGGGGGGAGGAGGAGGAGGGACGAGGAGCGGGGAGGGAGAGTGGGTGAGTGACCAGCGGAGCCCCCCAGGACAGACCTCCTGTCCCAGCACCCTGGGATCTCACTTGGGTTACTGAGGTCAACTCACCAATGACTGTGGGTTCCAAGTCTACAAACACTGCCCGGGGCACATGCTTGCCAGCCCCCGTCTCACTGAAGAAGGTGTTGAAGGAATCATCTCCTCCCCCAATGGTCTTGTCACTTGGCATCTGGCCATCGGGCTGGATGCCGTGTTCCAGGCAGTAGAGCTCCCAGCAGGCATTGCCAATCTGGACACCAGCCTGGCCAACGTGGATGGAGATGCACTCACGCTGTGGGGAGGAAAAGTGAAAAAATCGTAAAATTAAGGTGTATTAGCATTTCAAACTTATAGGAAATTTCAAAAATATTTCTAATAATATACAGATATTTTTCTAAATTATTTGAGGTCATATCCCCAGCACGATACAAAGATTAAGGAAAATCACCTGCTACAAATGCTGCATATGGGTGTGGTCTGAATAATGATGTCGCCTTGGCCCTGTTCAGCACGTGGTACCAGCCCATTGTGCCTACTACCATGCTTGAATAGAAGATTTTTCATATTTAAAAAGTATTCAGTATTCA
|
TATATATATATATATGTGTATATATATATATATAAAATAACATTTCCCATTATAACATAGTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGTAATTCTCTCTGAGTAGCTGGGATTACAGGCGTGTGTCACCACGCCTGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTAATTAACACATTAGAGTGAATAAATGTATCAGGCTTTTCCAACATGACATTCAGCTTAAAATAGGTTTGGAAAGAAGGTAAAGAACTAAGTCTAGCATAGGGCTGCTTGCTTTGAGAGGAGATTTGTTTTGGGAACCCTGGGCAGAAGAGGCATAATGGCACTAGACACATACCAAGGAGCGGAGGGCACATGAAAAACTGATGCATTTGGAATATTCACCATTTTATGTTAGTTACATAAGATTCAGCAGCCAACCAGATTTTGGCTATGTGTTACCAACTTTCAACTCTAAAAAGTACTGGCAGTTTAAATAACTTTATTATAATAATGAGGTAAAAACTTAATAGTATGAGCCGGGCACAGTGGTTCACGCCTGTAATCCCAGCACTTAGGGAGGCCGAGGCAAGCGGATCACTGGAGGTCAGGAGTCTGAGACCAGCCTGACCATCATGGTGAAACCCAGTCTCCACTAAAAATACAAAAATTAGTCAGGTGTGGTGGTGGATGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAAGCTCTTGAACCCAGGAGGTTGAGGTTGCAGTGAGCCCAGATCGTACCACTGCACTCCAGCCTGGGCAACAGAACAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAAAGTACATGATGCTCTGTAATGGTAATCTTTAGATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATACTTTAAATACAAACGTCACTTCCTAGGATATGTATAAACCACAGGCAACACTTATTTTTTATTCTCAATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAATTGTATATGAGAGCATACACTGCTACATACAAATTAACTGATCAGACCACAACTTTTCAATGTTTAAAACAGAATAAGCTTCCCTGTAAAAGCAGCACCTTTGTGACGTTTTAACTTTAGTATTCCTCTCCTTCTTCCTCACCCTCTCCTTCAACAGAATCCACACCAACCTCCTCATAATCCTTCTGAAGGGCAGCCATGTCCTCACGGGCCTCTGAAAACTCACCTTCCTCCATCCCCTCCCCAACGTACCAGTGAACAAAGGCACGTTTGGCATACATCAGGTCAAACTTGTGGTCCAGGCGAGCCCAGGCCTCAGCAATGGCTGTGGTGTTGCTCAGCATGCACACAGCTCTCTGTACCTTGGCCAGGTCTCCACCAGGCACCACAGTGGGAGGCTGGTAGTTGATGCCAACCTTGAAGCCAGTGGGGCACCAATCCACAAACTGGATGGTACGCTTGGTCTTGATGGTGGCAATGGCAGCATTGACATCTTTGGGAACCACGTCACCACGGTACAACAGGCAGCAAGCCATGTATTTACCATGGCGAGGGTCACATTTCACCATCTGGTTGGCTGGCTCAAAGCAAGCATTGGTGATCTCTGCTACAGAAAGCTGTTCATGGTAGGCTTTCTCAGCAGAGATGACAGGGGCATATGTGGCCAGAGGGAAGTGGATGCGGGGATAGGGCACCAGGTTGGTCTGGAATTCTGTCAGGTCAACATTCAGGGCTCCATCAAATCTCAGGGAAGCAGTGATGGAGGACACAATTTGACCTATTAACCTATTCAGGTTAGTATAGGTTGGACGCTCAATATCGAGGTTTCTACGACAGATGTCATAGATGGCCTCATTGTCTACCATGAAGGCACAATCAGAGTGCTCCAGGGTGGTGTGGGTGGTGAGGATGGAGTTGTAGGGCTCAACTACAGCTGTGGAAACCTGGGGCGCCGGGTAAATAGAGAACTCCAGCTTGGACTTCTTGCCATAATCAACTGAGAGACGTTCCATGAGCAGCGAGGTGAACCCAGAACCAGTTCCCCCACCAAAGCTGTGGAAAACCAAGAAGCCCTGGAGACCCGTGCACTGGTCGGCCTATAACAAAAGAGAGGAACAGAGGAAAGGTTAAGTTTTTATTCTTTGTAGTACAATCATAGTAAATATATTTTCACTTTTCATACATCTTCCAGGACTTAGATCTTATTTTGACAAATGCTTTTTAAAAAATTCTCATTAACATTTACAAAATGACATCAAATAGTTCATTTTAACTGAATTTTAAAAACCCCAAAAGAATGACTCATTCCACTCTTTATTAAAATAACAGTTCAATTCTGTGTTTGAAAAAAAAAGCATTATTTCAAATGTGTTCTTTAGGCTCATTAATTTACTTTATTCTTGAAAAGAAACATACCAGCTTGCGAATTCGGTCCAACACGAGGTCAATGATCTCCTTGCCAATGGTGTAGTGCCCTCGGGCATAGTTATTGGCAGCATCTTCTTTGCCTGTGATAAGTTGCTCAGGGTGGAAGAGCTGGCGGTAGGTGCCAGTGCGAACTTCATCTGGAGAACATGATGGGGGAGGAGCAGGGGGGAGGAGGAGGAGGGACGAGGAGCGGGGAGGGAGAGTGGGTGAGTGACCAGCGGAGCCCCCCAGGACAGACCTCCTGTCCCAGCACCCTGGGATCTCACTTGGGTTACTGAGGTCAACTCACCAATGACTGTGGGTTCCAAGTCTACAAACACTGCCCGGGGCACATGCTTGCCAGCCCCCGTCTCACTGAAGAAGGTGTTGAAGGAATCATCTCCTCCCCCAATGGTCTTGTCACTTGGCATCTGGCCATCGGGCTGGATGCCGTGTTCCAGGCAGTAGAGCTCCCAGCAGGCATTGCCAATCTGGACACCAGCCTGGCCAACGTGGATGGAGATGCACTCACGCTGTGGGGAGGAAAAGTGAAAAAATCGTAAAATTAAGGTGTATTAGCATTTCAAACTTATAGGAAATTTCAAAAATATTTCTAATAATATACAGATATTTTTCTAAATTATTTGAGGTCATATCCCCAGCACGATACAAAGATTAAGGAAAATCACCTGCTACAAATGCTGCATATGGGTGTGGTCTGAATAATGATGTCGCCTTGGCCCTGTTCAGCACGTGGTACCAGCCCATTGTGCCTACTACCATGCTTGAATAGAAGATTTTTCATATTTAAAAAGTATTCAGTATTCA
|
Task1_train_17592
|
This alteration in TUBA1A (tubulin alpha 1a) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; Tubulinopathy
|
TATATATATATATAAAATAACATTTCCCATTATAACATAGTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGTAATTCTCTCTGAGTAGCTGGGATTACAGGCGTGTGTCACCACGCCTGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTAATTAACACATTAGAGTGAATAAATGTATCAGGCTTTTCCAACATGACATTCAGCTTAAAATAGGTTTGGAAAGAAGGTAAAGAACTAAGTCTAGCATAGGGCTGCTTGCTTTGAGAGGAGATTTGTTTTGGGAACCCTGGGCAGAAGAGGCATAATGGCACTAGACACATACCAAGGAGCGGAGGGCACATGAAAAACTGATGCATTTGGAATATTCACCATTTTATGTTAGTTACATAAGATTCAGCAGCCAACCAGATTTTGGCTATGTGTTACCAACTTTCAACTCTAAAAAGTACTGGCAGTTTAAATAACTTTATTATAATAATGAGGTAAAAACTTAATAGTATGAGCCGGGCACAGTGGTTCACGCCTGTAATCCCAGCACTTAGGGAGGCCGAGGCAAGCGGATCACTGGAGGTCAGGAGTCTGAGACCAGCCTGACCATCATGGTGAAACCCAGTCTCCACTAAAAATACAAAAATTAGTCAGGTGTGGTGGTGGATGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAAGCTCTTGAACCCAGGAGGTTGAGGTTGCAGTGAGCCCAGATCGTACCACTGCACTCCAGCCTGGGCAACAGAACAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAAAGTACATGATGCTCTGTAATGGTAATCTTTAGATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATACTTTAAATACAAACGTCACTTCCTAGGATATGTATAAACCACAGGCAACACTTATTTTTTATTCTCAATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAATTGTATATGAGAGCATACACTGCTACATACAAATTAACTGATCAGACCACAACTTTTCAATGTTTAAAACAGAATAAGCTTCCCTGTAAAAGCAGCACCTTTGTGACGTTTTAACTTTAGTATTCCTCTCCTTCTTCCTCACCCTCTCCTTCAACAGAATCCACACCAACCTCCTCATAATCCTTCTCAAGGGCAGCCATGTCCTCACGGGCCTCTGAAAACTCACCTTCCTCCATCCCCTCCCCAACGTACCAGTGAACAAAGGCACGTTTGGCATACATCAGGTCAAACTTGTGGTCCAGGCGAGCCCAGGCCTCAGCAATGGCTGTGGTGTTGCTCAGCATGCACACAGCTCTCTGTACCTTGGCCAGGTCTCCACCAGGCACCACAGTGGGAGGCTGGTAGTTGATGCCAACCTTGAAGCCAGTGGGGCACCAATCCACAAACTGGATGGTACGCTTGGTCTTGATGGTGGCAATGGCAGCATTGACATCTTTGGGAACCACGTCACCACGGTACAACAGGCAGCAAGCCATGTATTTACCATGGCGAGGGTCACATTTCACCATCTGGTTGGCTGGCTCAAAGCAAGCATTGGTGATCTCTGCTACAGAAAGCTGTTCATGGTAGGCTTTCTCAGCAGAGATGACAGGGGCATATGTGGCCAGAGGGAAGTGGATGCGGGGATAGGGCACCAGGTTGGTCTGGAATTCTGTCAGGTCAACATTCAGGGCTCCATCAAATCTCAGGGAAGCAGTGATGGAGGACACAATTTGACCTATTAACCTATTCAGGTTAGTATAGGTTGGACGCTCAATATCGAGGTTTCTACGACAGATGTCATAGATGGCCTCATTGTCTACCATGAAGGCACAATCAGAGTGCTCCAGGGTGGTGTGGGTGGTGAGGATGGAGTTGTAGGGCTCAACTACAGCTGTGGAAACCTGGGGCGCCGGGTAAATAGAGAACTCCAGCTTGGACTTCTTGCCATAATCAACTGAGAGACGTTCCATGAGCAGCGAGGTGAACCCAGAACCAGTTCCCCCACCAAAGCTGTGGAAAACCAAGAAGCCCTGGAGACCCGTGCACTGGTCGGCCTATAACAAAAGAGAGGAACAGAGGAAAGGTTAAGTTTTTATTCTTTGTAGTACAATCATAGTAAATATATTTTCACTTTTCATACATCTTCCAGGACTTAGATCTTATTTTGACAAATGCTTTTTAAAAAATTCTCATTAACATTTACAAAATGACATCAAATAGTTCATTTTAACTGAATTTTAAAAACCCCAAAAGAATGACTCATTCCACTCTTTATTAAAATAACAGTTCAATTCTGTGTTTGAAAAAAAAAGCATTATTTCAAATGTGTTCTTTAGGCTCATTAATTTACTTTATTCTTGAAAAGAAACATACCAGCTTGCGAATTCGGTCCAACACGAGGTCAATGATCTCCTTGCCAATGGTGTAGTGCCCTCGGGCATAGTTATTGGCAGCATCTTCTTTGCCTGTGATAAGTTGCTCAGGGTGGAAGAGCTGGCGGTAGGTGCCAGTGCGAACTTCATCTGGAGAACATGATGGGGGAGGAGCAGGGGGGAGGAGGAGGAGGGACGAGGAGCGGGGAGGGAGAGTGGGTGAGTGACCAGCGGAGCCCCCCAGGACAGACCTCCTGTCCCAGCACCCTGGGATCTCACTTGGGTTACTGAGGTCAACTCACCAATGACTGTGGGTTCCAAGTCTACAAACACTGCCCGGGGCACATGCTTGCCAGCCCCCGTCTCACTGAAGAAGGTGTTGAAGGAATCATCTCCTCCCCCAATGGTCTTGTCACTTGGCATCTGGCCATCGGGCTGGATGCCGTGTTCCAGGCAGTAGAGCTCCCAGCAGGCATTGCCAATCTGGACACCAGCCTGGCCAACGTGGATGGAGATGCACTCACGCTGTGGGGAGGAAAAGTGAAAAAATCGTAAAATTAAGGTGTATTAGCATTTCAAACTTATAGGAAATTTCAAAAATATTTCTAATAATATACAGATATTTTTCTAAATTATTTGAGGTCATATCCCCAGCACGATACAAAGATTAAGGAAAATCACCTGCTACAAATGCTGCATATGGGTGTGGTCTGAATAATGATGTCGCCTTGGCCCTGTTCAGCACGTGGTACCAGCCCATTGTGCCTACTACCATGCTTGAATAGAAGATTTTTCATATTTAAAAAGTATTCAGTATTCAAAGCACAAATTTTGTAAAAT
|
TATATATATATATAAAATAACATTTCCCATTATAACATAGTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGTAATTCTCTCTGAGTAGCTGGGATTACAGGCGTGTGTCACCACGCCTGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTAATTAACACATTAGAGTGAATAAATGTATCAGGCTTTTCCAACATGACATTCAGCTTAAAATAGGTTTGGAAAGAAGGTAAAGAACTAAGTCTAGCATAGGGCTGCTTGCTTTGAGAGGAGATTTGTTTTGGGAACCCTGGGCAGAAGAGGCATAATGGCACTAGACACATACCAAGGAGCGGAGGGCACATGAAAAACTGATGCATTTGGAATATTCACCATTTTATGTTAGTTACATAAGATTCAGCAGCCAACCAGATTTTGGCTATGTGTTACCAACTTTCAACTCTAAAAAGTACTGGCAGTTTAAATAACTTTATTATAATAATGAGGTAAAAACTTAATAGTATGAGCCGGGCACAGTGGTTCACGCCTGTAATCCCAGCACTTAGGGAGGCCGAGGCAAGCGGATCACTGGAGGTCAGGAGTCTGAGACCAGCCTGACCATCATGGTGAAACCCAGTCTCCACTAAAAATACAAAAATTAGTCAGGTGTGGTGGTGGATGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAAGCTCTTGAACCCAGGAGGTTGAGGTTGCAGTGAGCCCAGATCGTACCACTGCACTCCAGCCTGGGCAACAGAACAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAAAGTACATGATGCTCTGTAATGGTAATCTTTAGATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATACTTTAAATACAAACGTCACTTCCTAGGATATGTATAAACCACAGGCAACACTTATTTTTTATTCTCAATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAATTGTATATGAGAGCATACACTGCTACATACAAATTAACTGATCAGACCACAACTTTTCAATGTTTAAAACAGAATAAGCTTCCCTGTAAAAGCAGCACCTTTGTGACGTTTTAACTTTAGTATTCCTCTCCTTCTTCCTCACCCTCTCCTTCAACAGAATCCACACCAACCTCCTCATAATCCTTCTCAAGGGCAGCCATGTCCTCATGGGCCTCTGAAAACTCACCTTCCTCCATCCCCTCCCCAACGTACCAGTGAACAAAGGCACGTTTGGCATACATCAGGTCAAACTTGTGGTCCAGGCGAGCCCAGGCCTCAGCAATGGCTGTGGTGTTGCTCAGCATGCACACAGCTCTCTGTACCTTGGCCAGGTCTCCACCAGGCACCACAGTGGGAGGCTGGTAGTTGATGCCAACCTTGAAGCCAGTGGGGCACCAATCCACAAACTGGATGGTACGCTTGGTCTTGATGGTGGCAATGGCAGCATTGACATCTTTGGGAACCACGTCACCACGGTACAACAGGCAGCAAGCCATGTATTTACCATGGCGAGGGTCACATTTCACCATCTGGTTGGCTGGCTCAAAGCAAGCATTGGTGATCTCTGCTACAGAAAGCTGTTCATGGTAGGCTTTCTCAGCAGAGATGACAGGGGCATATGTGGCCAGAGGGAAGTGGATGCGGGGATAGGGCACCAGGTTGGTCTGGAATTCTGTCAGGTCAACATTCAGGGCTCCATCAAATCTCAGGGAAGCAGTGATGGAGGACACAATTTGACCTATTAACCTATTCAGGTTAGTATAGGTTGGACGCTCAATATCGAGGTTTCTACGACAGATGTCATAGATGGCCTCATTGTCTACCATGAAGGCACAATCAGAGTGCTCCAGGGTGGTGTGGGTGGTGAGGATGGAGTTGTAGGGCTCAACTACAGCTGTGGAAACCTGGGGCGCCGGGTAAATAGAGAACTCCAGCTTGGACTTCTTGCCATAATCAACTGAGAGACGTTCCATGAGCAGCGAGGTGAACCCAGAACCAGTTCCCCCACCAAAGCTGTGGAAAACCAAGAAGCCCTGGAGACCCGTGCACTGGTCGGCCTATAACAAAAGAGAGGAACAGAGGAAAGGTTAAGTTTTTATTCTTTGTAGTACAATCATAGTAAATATATTTTCACTTTTCATACATCTTCCAGGACTTAGATCTTATTTTGACAAATGCTTTTTAAAAAATTCTCATTAACATTTACAAAATGACATCAAATAGTTCATTTTAACTGAATTTTAAAAACCCCAAAAGAATGACTCATTCCACTCTTTATTAAAATAACAGTTCAATTCTGTGTTTGAAAAAAAAAGCATTATTTCAAATGTGTTCTTTAGGCTCATTAATTTACTTTATTCTTGAAAAGAAACATACCAGCTTGCGAATTCGGTCCAACACGAGGTCAATGATCTCCTTGCCAATGGTGTAGTGCCCTCGGGCATAGTTATTGGCAGCATCTTCTTTGCCTGTGATAAGTTGCTCAGGGTGGAAGAGCTGGCGGTAGGTGCCAGTGCGAACTTCATCTGGAGAACATGATGGGGGAGGAGCAGGGGGGAGGAGGAGGAGGGACGAGGAGCGGGGAGGGAGAGTGGGTGAGTGACCAGCGGAGCCCCCCAGGACAGACCTCCTGTCCCAGCACCCTGGGATCTCACTTGGGTTACTGAGGTCAACTCACCAATGACTGTGGGTTCCAAGTCTACAAACACTGCCCGGGGCACATGCTTGCCAGCCCCCGTCTCACTGAAGAAGGTGTTGAAGGAATCATCTCCTCCCCCAATGGTCTTGTCACTTGGCATCTGGCCATCGGGCTGGATGCCGTGTTCCAGGCAGTAGAGCTCCCAGCAGGCATTGCCAATCTGGACACCAGCCTGGCCAACGTGGATGGAGATGCACTCACGCTGTGGGGAGGAAAAGTGAAAAAATCGTAAAATTAAGGTGTATTAGCATTTCAAACTTATAGGAAATTTCAAAAATATTTCTAATAATATACAGATATTTTTCTAAATTATTTGAGGTCATATCCCCAGCACGATACAAAGATTAAGGAAAATCACCTGCTACAAATGCTGCATATGGGTGTGGTCTGAATAATGATGTCGCCTTGGCCCTGTTCAGCACGTGGTACCAGCCCATTGTGCCTACTACCATGCTTGAATAGAAGATTTTTCATATTTAAAAAGTATTCAGTATTCAAAGCACAAATTTTGTAAAAT
|
Task1_train_17593
|
This mutation is located in gene TUBA1A (tubulin alpha 1a) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism?
|
Pathogenic; Lissencephaly due to TUBA1A mutation
|
TATATATATATATAAAATAACATTTCCCATTATAACATAGTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGTAATTCTCTCTGAGTAGCTGGGATTACAGGCGTGTGTCACCACGCCTGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTAATTAACACATTAGAGTGAATAAATGTATCAGGCTTTTCCAACATGACATTCAGCTTAAAATAGGTTTGGAAAGAAGGTAAAGAACTAAGTCTAGCATAGGGCTGCTTGCTTTGAGAGGAGATTTGTTTTGGGAACCCTGGGCAGAAGAGGCATAATGGCACTAGACACATACCAAGGAGCGGAGGGCACATGAAAAACTGATGCATTTGGAATATTCACCATTTTATGTTAGTTACATAAGATTCAGCAGCCAACCAGATTTTGGCTATGTGTTACCAACTTTCAACTCTAAAAAGTACTGGCAGTTTAAATAACTTTATTATAATAATGAGGTAAAAACTTAATAGTATGAGCCGGGCACAGTGGTTCACGCCTGTAATCCCAGCACTTAGGGAGGCCGAGGCAAGCGGATCACTGGAGGTCAGGAGTCTGAGACCAGCCTGACCATCATGGTGAAACCCAGTCTCCACTAAAAATACAAAAATTAGTCAGGTGTGGTGGTGGATGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAAGCTCTTGAACCCAGGAGGTTGAGGTTGCAGTGAGCCCAGATCGTACCACTGCACTCCAGCCTGGGCAACAGAACAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAAAGTACATGATGCTCTGTAATGGTAATCTTTAGATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATACTTTAAATACAAACGTCACTTCCTAGGATATGTATAAACCACAGGCAACACTTATTTTTTATTCTCAATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAATTGTATATGAGAGCATACACTGCTACATACAAATTAACTGATCAGACCACAACTTTTCAATGTTTAAAACAGAATAAGCTTCCCTGTAAAAGCAGCACCTTTGTGACGTTTTAACTTTAGTATTCCTCTCCTTCTTCCTCACCCTCTCCTTCAACAGAATCCACACCAACCTCCTCATAATCCTTCTCAAGGGCAGCCATGTCCTCACGGGCCTCTGAAAACTCACCTTCCTCCATCCCCTCCCCAACGTACCAGTGAACAAAGGCACGTTTGGCATACATCAGGTCAAACTTGTGGTCCAGGCGAGCCCAGGCCTCAGCAATGGCTGTGGTGTTGCTCAGCATGCACACAGCTCTCTGTACCTTGGCCAGGTCTCCACCAGGCACCACAGTGGGAGGCTGGTAGTTGATGCCAACCTTGAAGCCAGTGGGGCACCAATCCACAAACTGGATGGTACGCTTGGTCTTGATGGTGGCAATGGCAGCATTGACATCTTTGGGAACCACGTCACCACGGTACAACAGGCAGCAAGCCATGTATTTACCATGGCGAGGGTCACATTTCACCATCTGGTTGGCTGGCTCAAAGCAAGCATTGGTGATCTCTGCTACAGAAAGCTGTTCATGGTAGGCTTTCTCAGCAGAGATGACAGGGGCATATGTGGCCAGAGGGAAGTGGATGCGGGGATAGGGCACCAGGTTGGTCTGGAATTCTGTCAGGTCAACATTCAGGGCTCCATCAAATCTCAGGGAAGCAGTGATGGAGGACACAATTTGACCTATTAACCTATTCAGGTTAGTATAGGTTGGACGCTCAATATCGAGGTTTCTACGACAGATGTCATAGATGGCCTCATTGTCTACCATGAAGGCACAATCAGAGTGCTCCAGGGTGGTGTGGGTGGTGAGGATGGAGTTGTAGGGCTCAACTACAGCTGTGGAAACCTGGGGCGCCGGGTAAATAGAGAACTCCAGCTTGGACTTCTTGCCATAATCAACTGAGAGACGTTCCATGAGCAGCGAGGTGAACCCAGAACCAGTTCCCCCACCAAAGCTGTGGAAAACCAAGAAGCCCTGGAGACCCGTGCACTGGTCGGCCTATAACAAAAGAGAGGAACAGAGGAAAGGTTAAGTTTTTATTCTTTGTAGTACAATCATAGTAAATATATTTTCACTTTTCATACATCTTCCAGGACTTAGATCTTATTTTGACAAATGCTTTTTAAAAAATTCTCATTAACATTTACAAAATGACATCAAATAGTTCATTTTAACTGAATTTTAAAAACCCCAAAAGAATGACTCATTCCACTCTTTATTAAAATAACAGTTCAATTCTGTGTTTGAAAAAAAAAGCATTATTTCAAATGTGTTCTTTAGGCTCATTAATTTACTTTATTCTTGAAAAGAAACATACCAGCTTGCGAATTCGGTCCAACACGAGGTCAATGATCTCCTTGCCAATGGTGTAGTGCCCTCGGGCATAGTTATTGGCAGCATCTTCTTTGCCTGTGATAAGTTGCTCAGGGTGGAAGAGCTGGCGGTAGGTGCCAGTGCGAACTTCATCTGGAGAACATGATGGGGGAGGAGCAGGGGGGAGGAGGAGGAGGGACGAGGAGCGGGGAGGGAGAGTGGGTGAGTGACCAGCGGAGCCCCCCAGGACAGACCTCCTGTCCCAGCACCCTGGGATCTCACTTGGGTTACTGAGGTCAACTCACCAATGACTGTGGGTTCCAAGTCTACAAACACTGCCCGGGGCACATGCTTGCCAGCCCCCGTCTCACTGAAGAAGGTGTTGAAGGAATCATCTCCTCCCCCAATGGTCTTGTCACTTGGCATCTGGCCATCGGGCTGGATGCCGTGTTCCAGGCAGTAGAGCTCCCAGCAGGCATTGCCAATCTGGACACCAGCCTGGCCAACGTGGATGGAGATGCACTCACGCTGTGGGGAGGAAAAGTGAAAAAATCGTAAAATTAAGGTGTATTAGCATTTCAAACTTATAGGAAATTTCAAAAATATTTCTAATAATATACAGATATTTTTCTAAATTATTTGAGGTCATATCCCCAGCACGATACAAAGATTAAGGAAAATCACCTGCTACAAATGCTGCATATGGGTGTGGTCTGAATAATGATGTCGCCTTGGCCCTGTTCAGCACGTGGTACCAGCCCATTGTGCCTACTACCATGCTTGAATAGAAGATTTTTCATATTTAAAAAGTATTCAGTATTCAAAGCACAAATTTTGTAAAAT
|
TATATATATATATAAAATAACATTTCCCATTATAACATAGTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGTAATTCTCTCTGAGTAGCTGGGATTACAGGCGTGTGTCACCACGCCTGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTAATTAACACATTAGAGTGAATAAATGTATCAGGCTTTTCCAACATGACATTCAGCTTAAAATAGGTTTGGAAAGAAGGTAAAGAACTAAGTCTAGCATAGGGCTGCTTGCTTTGAGAGGAGATTTGTTTTGGGAACCCTGGGCAGAAGAGGCATAATGGCACTAGACACATACCAAGGAGCGGAGGGCACATGAAAAACTGATGCATTTGGAATATTCACCATTTTATGTTAGTTACATAAGATTCAGCAGCCAACCAGATTTTGGCTATGTGTTACCAACTTTCAACTCTAAAAAGTACTGGCAGTTTAAATAACTTTATTATAATAATGAGGTAAAAACTTAATAGTATGAGCCGGGCACAGTGGTTCACGCCTGTAATCCCAGCACTTAGGGAGGCCGAGGCAAGCGGATCACTGGAGGTCAGGAGTCTGAGACCAGCCTGACCATCATGGTGAAACCCAGTCTCCACTAAAAATACAAAAATTAGTCAGGTGTGGTGGTGGATGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAAGCTCTTGAACCCAGGAGGTTGAGGTTGCAGTGAGCCCAGATCGTACCACTGCACTCCAGCCTGGGCAACAGAACAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAAAGTACATGATGCTCTGTAATGGTAATCTTTAGATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATACTTTAAATACAAACGTCACTTCCTAGGATATGTATAAACCACAGGCAACACTTATTTTTTATTCTCAATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAATTGTATATGAGAGCATACACTGCTACATACAAATTAACTGATCAGACCACAACTTTTCAATGTTTAAAACAGAATAAGCTTCCCTGTAAAAGCAGCACCTTTGTGACGTTTTAACTTTAGTATTCCTCTCCTTCTTCCTCACCCTCTCCTTCAACAGAATCCACACCAACCTCCTCATAATCCTTCTCAAGGGCAGCCATGTCCTCATGGGCCTCTGAAAACTCACCTTCCTCCATCCCCTCCCCAACGTACCAGTGAACAAAGGCACGTTTGGCATACATCAGGTCAAACTTGTGGTCCAGGCGAGCCCAGGCCTCAGCAATGGCTGTGGTGTTGCTCAGCATGCACACAGCTCTCTGTACCTTGGCCAGGTCTCCACCAGGCACCACAGTGGGAGGCTGGTAGTTGATGCCAACCTTGAAGCCAGTGGGGCACCAATCCACAAACTGGATGGTACGCTTGGTCTTGATGGTGGCAATGGCAGCATTGACATCTTTGGGAACCACGTCACCACGGTACAACAGGCAGCAAGCCATGTATTTACCATGGCGAGGGTCACATTTCACCATCTGGTTGGCTGGCTCAAAGCAAGCATTGGTGATCTCTGCTACAGAAAGCTGTTCATGGTAGGCTTTCTCAGCAGAGATGACAGGGGCATATGTGGCCAGAGGGAAGTGGATGCGGGGATAGGGCACCAGGTTGGTCTGGAATTCTGTCAGGTCAACATTCAGGGCTCCATCAAATCTCAGGGAAGCAGTGATGGAGGACACAATTTGACCTATTAACCTATTCAGGTTAGTATAGGTTGGACGCTCAATATCGAGGTTTCTACGACAGATGTCATAGATGGCCTCATTGTCTACCATGAAGGCACAATCAGAGTGCTCCAGGGTGGTGTGGGTGGTGAGGATGGAGTTGTAGGGCTCAACTACAGCTGTGGAAACCTGGGGCGCCGGGTAAATAGAGAACTCCAGCTTGGACTTCTTGCCATAATCAACTGAGAGACGTTCCATGAGCAGCGAGGTGAACCCAGAACCAGTTCCCCCACCAAAGCTGTGGAAAACCAAGAAGCCCTGGAGACCCGTGCACTGGTCGGCCTATAACAAAAGAGAGGAACAGAGGAAAGGTTAAGTTTTTATTCTTTGTAGTACAATCATAGTAAATATATTTTCACTTTTCATACATCTTCCAGGACTTAGATCTTATTTTGACAAATGCTTTTTAAAAAATTCTCATTAACATTTACAAAATGACATCAAATAGTTCATTTTAACTGAATTTTAAAAACCCCAAAAGAATGACTCATTCCACTCTTTATTAAAATAACAGTTCAATTCTGTGTTTGAAAAAAAAAGCATTATTTCAAATGTGTTCTTTAGGCTCATTAATTTACTTTATTCTTGAAAAGAAACATACCAGCTTGCGAATTCGGTCCAACACGAGGTCAATGATCTCCTTGCCAATGGTGTAGTGCCCTCGGGCATAGTTATTGGCAGCATCTTCTTTGCCTGTGATAAGTTGCTCAGGGTGGAAGAGCTGGCGGTAGGTGCCAGTGCGAACTTCATCTGGAGAACATGATGGGGGAGGAGCAGGGGGGAGGAGGAGGAGGGACGAGGAGCGGGGAGGGAGAGTGGGTGAGTGACCAGCGGAGCCCCCCAGGACAGACCTCCTGTCCCAGCACCCTGGGATCTCACTTGGGTTACTGAGGTCAACTCACCAATGACTGTGGGTTCCAAGTCTACAAACACTGCCCGGGGCACATGCTTGCCAGCCCCCGTCTCACTGAAGAAGGTGTTGAAGGAATCATCTCCTCCCCCAATGGTCTTGTCACTTGGCATCTGGCCATCGGGCTGGATGCCGTGTTCCAGGCAGTAGAGCTCCCAGCAGGCATTGCCAATCTGGACACCAGCCTGGCCAACGTGGATGGAGATGCACTCACGCTGTGGGGAGGAAAAGTGAAAAAATCGTAAAATTAAGGTGTATTAGCATTTCAAACTTATAGGAAATTTCAAAAATATTTCTAATAATATACAGATATTTTTCTAAATTATTTGAGGTCATATCCCCAGCACGATACAAAGATTAAGGAAAATCACCTGCTACAAATGCTGCATATGGGTGTGGTCTGAATAATGATGTCGCCTTGGCCCTGTTCAGCACGTGGTACCAGCCCATTGTGCCTACTACCATGCTTGAATAGAAGATTTTTCATATTTAAAAAGTATTCAGTATTCAAAGCACAAATTTTGTAAAAT
|
Task1_train_17594
|
This variant impacts the gene TUBA1A (tubulin alpha 1a) on Chromosome 12. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; Tubulinopathy
|
ATATATATATATAAAATAACATTTCCCATTATAACATAGTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGTAATTCTCTCTGAGTAGCTGGGATTACAGGCGTGTGTCACCACGCCTGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTAATTAACACATTAGAGTGAATAAATGTATCAGGCTTTTCCAACATGACATTCAGCTTAAAATAGGTTTGGAAAGAAGGTAAAGAACTAAGTCTAGCATAGGGCTGCTTGCTTTGAGAGGAGATTTGTTTTGGGAACCCTGGGCAGAAGAGGCATAATGGCACTAGACACATACCAAGGAGCGGAGGGCACATGAAAAACTGATGCATTTGGAATATTCACCATTTTATGTTAGTTACATAAGATTCAGCAGCCAACCAGATTTTGGCTATGTGTTACCAACTTTCAACTCTAAAAAGTACTGGCAGTTTAAATAACTTTATTATAATAATGAGGTAAAAACTTAATAGTATGAGCCGGGCACAGTGGTTCACGCCTGTAATCCCAGCACTTAGGGAGGCCGAGGCAAGCGGATCACTGGAGGTCAGGAGTCTGAGACCAGCCTGACCATCATGGTGAAACCCAGTCTCCACTAAAAATACAAAAATTAGTCAGGTGTGGTGGTGGATGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAAGCTCTTGAACCCAGGAGGTTGAGGTTGCAGTGAGCCCAGATCGTACCACTGCACTCCAGCCTGGGCAACAGAACAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAAAGTACATGATGCTCTGTAATGGTAATCTTTAGATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATACTTTAAATACAAACGTCACTTCCTAGGATATGTATAAACCACAGGCAACACTTATTTTTTATTCTCAATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAATTGTATATGAGAGCATACACTGCTACATACAAATTAACTGATCAGACCACAACTTTTCAATGTTTAAAACAGAATAAGCTTCCCTGTAAAAGCAGCACCTTTGTGACGTTTTAACTTTAGTATTCCTCTCCTTCTTCCTCACCCTCTCCTTCAACAGAATCCACACCAACCTCCTCATAATCCTTCTCAAGGGCAGCCATGTCCTCACGGGCCTCTGAAAACTCACCTTCCTCCATCCCCTCCCCAACGTACCAGTGAACAAAGGCACGTTTGGCATACATCAGGTCAAACTTGTGGTCCAGGCGAGCCCAGGCCTCAGCAATGGCTGTGGTGTTGCTCAGCATGCACACAGCTCTCTGTACCTTGGCCAGGTCTCCACCAGGCACCACAGTGGGAGGCTGGTAGTTGATGCCAACCTTGAAGCCAGTGGGGCACCAATCCACAAACTGGATGGTACGCTTGGTCTTGATGGTGGCAATGGCAGCATTGACATCTTTGGGAACCACGTCACCACGGTACAACAGGCAGCAAGCCATGTATTTACCATGGCGAGGGTCACATTTCACCATCTGGTTGGCTGGCTCAAAGCAAGCATTGGTGATCTCTGCTACAGAAAGCTGTTCATGGTAGGCTTTCTCAGCAGAGATGACAGGGGCATATGTGGCCAGAGGGAAGTGGATGCGGGGATAGGGCACCAGGTTGGTCTGGAATTCTGTCAGGTCAACATTCAGGGCTCCATCAAATCTCAGGGAAGCAGTGATGGAGGACACAATTTGACCTATTAACCTATTCAGGTTAGTATAGGTTGGACGCTCAATATCGAGGTTTCTACGACAGATGTCATAGATGGCCTCATTGTCTACCATGAAGGCACAATCAGAGTGCTCCAGGGTGGTGTGGGTGGTGAGGATGGAGTTGTAGGGCTCAACTACAGCTGTGGAAACCTGGGGCGCCGGGTAAATAGAGAACTCCAGCTTGGACTTCTTGCCATAATCAACTGAGAGACGTTCCATGAGCAGCGAGGTGAACCCAGAACCAGTTCCCCCACCAAAGCTGTGGAAAACCAAGAAGCCCTGGAGACCCGTGCACTGGTCGGCCTATAACAAAAGAGAGGAACAGAGGAAAGGTTAAGTTTTTATTCTTTGTAGTACAATCATAGTAAATATATTTTCACTTTTCATACATCTTCCAGGACTTAGATCTTATTTTGACAAATGCTTTTTAAAAAATTCTCATTAACATTTACAAAATGACATCAAATAGTTCATTTTAACTGAATTTTAAAAACCCCAAAAGAATGACTCATTCCACTCTTTATTAAAATAACAGTTCAATTCTGTGTTTGAAAAAAAAAGCATTATTTCAAATGTGTTCTTTAGGCTCATTAATTTACTTTATTCTTGAAAAGAAACATACCAGCTTGCGAATTCGGTCCAACACGAGGTCAATGATCTCCTTGCCAATGGTGTAGTGCCCTCGGGCATAGTTATTGGCAGCATCTTCTTTGCCTGTGATAAGTTGCTCAGGGTGGAAGAGCTGGCGGTAGGTGCCAGTGCGAACTTCATCTGGAGAACATGATGGGGGAGGAGCAGGGGGGAGGAGGAGGAGGGACGAGGAGCGGGGAGGGAGAGTGGGTGAGTGACCAGCGGAGCCCCCCAGGACAGACCTCCTGTCCCAGCACCCTGGGATCTCACTTGGGTTACTGAGGTCAACTCACCAATGACTGTGGGTTCCAAGTCTACAAACACTGCCCGGGGCACATGCTTGCCAGCCCCCGTCTCACTGAAGAAGGTGTTGAAGGAATCATCTCCTCCCCCAATGGTCTTGTCACTTGGCATCTGGCCATCGGGCTGGATGCCGTGTTCCAGGCAGTAGAGCTCCCAGCAGGCATTGCCAATCTGGACACCAGCCTGGCCAACGTGGATGGAGATGCACTCACGCTGTGGGGAGGAAAAGTGAAAAAATCGTAAAATTAAGGTGTATTAGCATTTCAAACTTATAGGAAATTTCAAAAATATTTCTAATAATATACAGATATTTTTCTAAATTATTTGAGGTCATATCCCCAGCACGATACAAAGATTAAGGAAAATCACCTGCTACAAATGCTGCATATGGGTGTGGTCTGAATAATGATGTCGCCTTGGCCCTGTTCAGCACGTGGTACCAGCCCATTGTGCCTACTACCATGCTTGAATAGAAGATTTTTCATATTTAAAAAGTATTCAGTATTCAAAGCACAAATTTTGTAAAATG
|
ATATATATATATAAAATAACATTTCCCATTATAACATAGTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGTAATTCTCTCTGAGTAGCTGGGATTACAGGCGTGTGTCACCACGCCTGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTAATTAACACATTAGAGTGAATAAATGTATCAGGCTTTTCCAACATGACATTCAGCTTAAAATAGGTTTGGAAAGAAGGTAAAGAACTAAGTCTAGCATAGGGCTGCTTGCTTTGAGAGGAGATTTGTTTTGGGAACCCTGGGCAGAAGAGGCATAATGGCACTAGACACATACCAAGGAGCGGAGGGCACATGAAAAACTGATGCATTTGGAATATTCACCATTTTATGTTAGTTACATAAGATTCAGCAGCCAACCAGATTTTGGCTATGTGTTACCAACTTTCAACTCTAAAAAGTACTGGCAGTTTAAATAACTTTATTATAATAATGAGGTAAAAACTTAATAGTATGAGCCGGGCACAGTGGTTCACGCCTGTAATCCCAGCACTTAGGGAGGCCGAGGCAAGCGGATCACTGGAGGTCAGGAGTCTGAGACCAGCCTGACCATCATGGTGAAACCCAGTCTCCACTAAAAATACAAAAATTAGTCAGGTGTGGTGGTGGATGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAAGCTCTTGAACCCAGGAGGTTGAGGTTGCAGTGAGCCCAGATCGTACCACTGCACTCCAGCCTGGGCAACAGAACAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAAAGTACATGATGCTCTGTAATGGTAATCTTTAGATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATACTTTAAATACAAACGTCACTTCCTAGGATATGTATAAACCACAGGCAACACTTATTTTTTATTCTCAATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAATTGTATATGAGAGCATACACTGCTACATACAAATTAACTGATCAGACCACAACTTTTCAATGTTTAAAACAGAATAAGCTTCCCTGTAAAAGCAGCACCTTTGTGACGTTTTAACTTTAGTATTCCTCTCCTTCTTCCTCACCCTCTCCTTCAACAGAATCCACACCAACCTCCTCATAATCCTTCTCAAGGGCAGCCATGTCCTCACAGGCCTCTGAAAACTCACCTTCCTCCATCCCCTCCCCAACGTACCAGTGAACAAAGGCACGTTTGGCATACATCAGGTCAAACTTGTGGTCCAGGCGAGCCCAGGCCTCAGCAATGGCTGTGGTGTTGCTCAGCATGCACACAGCTCTCTGTACCTTGGCCAGGTCTCCACCAGGCACCACAGTGGGAGGCTGGTAGTTGATGCCAACCTTGAAGCCAGTGGGGCACCAATCCACAAACTGGATGGTACGCTTGGTCTTGATGGTGGCAATGGCAGCATTGACATCTTTGGGAACCACGTCACCACGGTACAACAGGCAGCAAGCCATGTATTTACCATGGCGAGGGTCACATTTCACCATCTGGTTGGCTGGCTCAAAGCAAGCATTGGTGATCTCTGCTACAGAAAGCTGTTCATGGTAGGCTTTCTCAGCAGAGATGACAGGGGCATATGTGGCCAGAGGGAAGTGGATGCGGGGATAGGGCACCAGGTTGGTCTGGAATTCTGTCAGGTCAACATTCAGGGCTCCATCAAATCTCAGGGAAGCAGTGATGGAGGACACAATTTGACCTATTAACCTATTCAGGTTAGTATAGGTTGGACGCTCAATATCGAGGTTTCTACGACAGATGTCATAGATGGCCTCATTGTCTACCATGAAGGCACAATCAGAGTGCTCCAGGGTGGTGTGGGTGGTGAGGATGGAGTTGTAGGGCTCAACTACAGCTGTGGAAACCTGGGGCGCCGGGTAAATAGAGAACTCCAGCTTGGACTTCTTGCCATAATCAACTGAGAGACGTTCCATGAGCAGCGAGGTGAACCCAGAACCAGTTCCCCCACCAAAGCTGTGGAAAACCAAGAAGCCCTGGAGACCCGTGCACTGGTCGGCCTATAACAAAAGAGAGGAACAGAGGAAAGGTTAAGTTTTTATTCTTTGTAGTACAATCATAGTAAATATATTTTCACTTTTCATACATCTTCCAGGACTTAGATCTTATTTTGACAAATGCTTTTTAAAAAATTCTCATTAACATTTACAAAATGACATCAAATAGTTCATTTTAACTGAATTTTAAAAACCCCAAAAGAATGACTCATTCCACTCTTTATTAAAATAACAGTTCAATTCTGTGTTTGAAAAAAAAAGCATTATTTCAAATGTGTTCTTTAGGCTCATTAATTTACTTTATTCTTGAAAAGAAACATACCAGCTTGCGAATTCGGTCCAACACGAGGTCAATGATCTCCTTGCCAATGGTGTAGTGCCCTCGGGCATAGTTATTGGCAGCATCTTCTTTGCCTGTGATAAGTTGCTCAGGGTGGAAGAGCTGGCGGTAGGTGCCAGTGCGAACTTCATCTGGAGAACATGATGGGGGAGGAGCAGGGGGGAGGAGGAGGAGGGACGAGGAGCGGGGAGGGAGAGTGGGTGAGTGACCAGCGGAGCCCCCCAGGACAGACCTCCTGTCCCAGCACCCTGGGATCTCACTTGGGTTACTGAGGTCAACTCACCAATGACTGTGGGTTCCAAGTCTACAAACACTGCCCGGGGCACATGCTTGCCAGCCCCCGTCTCACTGAAGAAGGTGTTGAAGGAATCATCTCCTCCCCCAATGGTCTTGTCACTTGGCATCTGGCCATCGGGCTGGATGCCGTGTTCCAGGCAGTAGAGCTCCCAGCAGGCATTGCCAATCTGGACACCAGCCTGGCCAACGTGGATGGAGATGCACTCACGCTGTGGGGAGGAAAAGTGAAAAAATCGTAAAATTAAGGTGTATTAGCATTTCAAACTTATAGGAAATTTCAAAAATATTTCTAATAATATACAGATATTTTTCTAAATTATTTGAGGTCATATCCCCAGCACGATACAAAGATTAAGGAAAATCACCTGCTACAAATGCTGCATATGGGTGTGGTCTGAATAATGATGTCGCCTTGGCCCTGTTCAGCACGTGGTACCAGCCCATTGTGCCTACTACCATGCTTGAATAGAAGATTTTTCATATTTAAAAAGTATTCAGTATTCAAAGCACAAATTTTGTAAAATG
|
Task1_train_17595
|
A variant found in Chromosome 12 affects TUBA1A (tubulin alpha 1a). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
|
Pathogenic; Lissencephaly due to TUBA1A mutation
|
ATATATATATATAAAATAACATTTCCCATTATAACATAGTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGTAATTCTCTCTGAGTAGCTGGGATTACAGGCGTGTGTCACCACGCCTGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTAATTAACACATTAGAGTGAATAAATGTATCAGGCTTTTCCAACATGACATTCAGCTTAAAATAGGTTTGGAAAGAAGGTAAAGAACTAAGTCTAGCATAGGGCTGCTTGCTTTGAGAGGAGATTTGTTTTGGGAACCCTGGGCAGAAGAGGCATAATGGCACTAGACACATACCAAGGAGCGGAGGGCACATGAAAAACTGATGCATTTGGAATATTCACCATTTTATGTTAGTTACATAAGATTCAGCAGCCAACCAGATTTTGGCTATGTGTTACCAACTTTCAACTCTAAAAAGTACTGGCAGTTTAAATAACTTTATTATAATAATGAGGTAAAAACTTAATAGTATGAGCCGGGCACAGTGGTTCACGCCTGTAATCCCAGCACTTAGGGAGGCCGAGGCAAGCGGATCACTGGAGGTCAGGAGTCTGAGACCAGCCTGACCATCATGGTGAAACCCAGTCTCCACTAAAAATACAAAAATTAGTCAGGTGTGGTGGTGGATGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAAGCTCTTGAACCCAGGAGGTTGAGGTTGCAGTGAGCCCAGATCGTACCACTGCACTCCAGCCTGGGCAACAGAACAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAAAGTACATGATGCTCTGTAATGGTAATCTTTAGATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATACTTTAAATACAAACGTCACTTCCTAGGATATGTATAAACCACAGGCAACACTTATTTTTTATTCTCAATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAATTGTATATGAGAGCATACACTGCTACATACAAATTAACTGATCAGACCACAACTTTTCAATGTTTAAAACAGAATAAGCTTCCCTGTAAAAGCAGCACCTTTGTGACGTTTTAACTTTAGTATTCCTCTCCTTCTTCCTCACCCTCTCCTTCAACAGAATCCACACCAACCTCCTCATAATCCTTCTCAAGGGCAGCCATGTCCTCACGGGCCTCTGAAAACTCACCTTCCTCCATCCCCTCCCCAACGTACCAGTGAACAAAGGCACGTTTGGCATACATCAGGTCAAACTTGTGGTCCAGGCGAGCCCAGGCCTCAGCAATGGCTGTGGTGTTGCTCAGCATGCACACAGCTCTCTGTACCTTGGCCAGGTCTCCACCAGGCACCACAGTGGGAGGCTGGTAGTTGATGCCAACCTTGAAGCCAGTGGGGCACCAATCCACAAACTGGATGGTACGCTTGGTCTTGATGGTGGCAATGGCAGCATTGACATCTTTGGGAACCACGTCACCACGGTACAACAGGCAGCAAGCCATGTATTTACCATGGCGAGGGTCACATTTCACCATCTGGTTGGCTGGCTCAAAGCAAGCATTGGTGATCTCTGCTACAGAAAGCTGTTCATGGTAGGCTTTCTCAGCAGAGATGACAGGGGCATATGTGGCCAGAGGGAAGTGGATGCGGGGATAGGGCACCAGGTTGGTCTGGAATTCTGTCAGGTCAACATTCAGGGCTCCATCAAATCTCAGGGAAGCAGTGATGGAGGACACAATTTGACCTATTAACCTATTCAGGTTAGTATAGGTTGGACGCTCAATATCGAGGTTTCTACGACAGATGTCATAGATGGCCTCATTGTCTACCATGAAGGCACAATCAGAGTGCTCCAGGGTGGTGTGGGTGGTGAGGATGGAGTTGTAGGGCTCAACTACAGCTGTGGAAACCTGGGGCGCCGGGTAAATAGAGAACTCCAGCTTGGACTTCTTGCCATAATCAACTGAGAGACGTTCCATGAGCAGCGAGGTGAACCCAGAACCAGTTCCCCCACCAAAGCTGTGGAAAACCAAGAAGCCCTGGAGACCCGTGCACTGGTCGGCCTATAACAAAAGAGAGGAACAGAGGAAAGGTTAAGTTTTTATTCTTTGTAGTACAATCATAGTAAATATATTTTCACTTTTCATACATCTTCCAGGACTTAGATCTTATTTTGACAAATGCTTTTTAAAAAATTCTCATTAACATTTACAAAATGACATCAAATAGTTCATTTTAACTGAATTTTAAAAACCCCAAAAGAATGACTCATTCCACTCTTTATTAAAATAACAGTTCAATTCTGTGTTTGAAAAAAAAAGCATTATTTCAAATGTGTTCTTTAGGCTCATTAATTTACTTTATTCTTGAAAAGAAACATACCAGCTTGCGAATTCGGTCCAACACGAGGTCAATGATCTCCTTGCCAATGGTGTAGTGCCCTCGGGCATAGTTATTGGCAGCATCTTCTTTGCCTGTGATAAGTTGCTCAGGGTGGAAGAGCTGGCGGTAGGTGCCAGTGCGAACTTCATCTGGAGAACATGATGGGGGAGGAGCAGGGGGGAGGAGGAGGAGGGACGAGGAGCGGGGAGGGAGAGTGGGTGAGTGACCAGCGGAGCCCCCCAGGACAGACCTCCTGTCCCAGCACCCTGGGATCTCACTTGGGTTACTGAGGTCAACTCACCAATGACTGTGGGTTCCAAGTCTACAAACACTGCCCGGGGCACATGCTTGCCAGCCCCCGTCTCACTGAAGAAGGTGTTGAAGGAATCATCTCCTCCCCCAATGGTCTTGTCACTTGGCATCTGGCCATCGGGCTGGATGCCGTGTTCCAGGCAGTAGAGCTCCCAGCAGGCATTGCCAATCTGGACACCAGCCTGGCCAACGTGGATGGAGATGCACTCACGCTGTGGGGAGGAAAAGTGAAAAAATCGTAAAATTAAGGTGTATTAGCATTTCAAACTTATAGGAAATTTCAAAAATATTTCTAATAATATACAGATATTTTTCTAAATTATTTGAGGTCATATCCCCAGCACGATACAAAGATTAAGGAAAATCACCTGCTACAAATGCTGCATATGGGTGTGGTCTGAATAATGATGTCGCCTTGGCCCTGTTCAGCACGTGGTACCAGCCCATTGTGCCTACTACCATGCTTGAATAGAAGATTTTTCATATTTAAAAAGTATTCAGTATTCAAAGCACAAATTTTGTAAAATG
|
ATATATATATATAAAATAACATTTCCCATTATAACATAGTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGTAATTCTCTCTGAGTAGCTGGGATTACAGGCGTGTGTCACCACGCCTGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTAATTAACACATTAGAGTGAATAAATGTATCAGGCTTTTCCAACATGACATTCAGCTTAAAATAGGTTTGGAAAGAAGGTAAAGAACTAAGTCTAGCATAGGGCTGCTTGCTTTGAGAGGAGATTTGTTTTGGGAACCCTGGGCAGAAGAGGCATAATGGCACTAGACACATACCAAGGAGCGGAGGGCACATGAAAAACTGATGCATTTGGAATATTCACCATTTTATGTTAGTTACATAAGATTCAGCAGCCAACCAGATTTTGGCTATGTGTTACCAACTTTCAACTCTAAAAAGTACTGGCAGTTTAAATAACTTTATTATAATAATGAGGTAAAAACTTAATAGTATGAGCCGGGCACAGTGGTTCACGCCTGTAATCCCAGCACTTAGGGAGGCCGAGGCAAGCGGATCACTGGAGGTCAGGAGTCTGAGACCAGCCTGACCATCATGGTGAAACCCAGTCTCCACTAAAAATACAAAAATTAGTCAGGTGTGGTGGTGGATGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAAGCTCTTGAACCCAGGAGGTTGAGGTTGCAGTGAGCCCAGATCGTACCACTGCACTCCAGCCTGGGCAACAGAACAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAAAGTACATGATGCTCTGTAATGGTAATCTTTAGATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATACTTTAAATACAAACGTCACTTCCTAGGATATGTATAAACCACAGGCAACACTTATTTTTTATTCTCAATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAATTGTATATGAGAGCATACACTGCTACATACAAATTAACTGATCAGACCACAACTTTTCAATGTTTAAAACAGAATAAGCTTCCCTGTAAAAGCAGCACCTTTGTGACGTTTTAACTTTAGTATTCCTCTCCTTCTTCCTCACCCTCTCCTTCAACAGAATCCACACCAACCTCCTCATAATCCTTCTCAAGGGCAGCCATGTCCTCACAGGCCTCTGAAAACTCACCTTCCTCCATCCCCTCCCCAACGTACCAGTGAACAAAGGCACGTTTGGCATACATCAGGTCAAACTTGTGGTCCAGGCGAGCCCAGGCCTCAGCAATGGCTGTGGTGTTGCTCAGCATGCACACAGCTCTCTGTACCTTGGCCAGGTCTCCACCAGGCACCACAGTGGGAGGCTGGTAGTTGATGCCAACCTTGAAGCCAGTGGGGCACCAATCCACAAACTGGATGGTACGCTTGGTCTTGATGGTGGCAATGGCAGCATTGACATCTTTGGGAACCACGTCACCACGGTACAACAGGCAGCAAGCCATGTATTTACCATGGCGAGGGTCACATTTCACCATCTGGTTGGCTGGCTCAAAGCAAGCATTGGTGATCTCTGCTACAGAAAGCTGTTCATGGTAGGCTTTCTCAGCAGAGATGACAGGGGCATATGTGGCCAGAGGGAAGTGGATGCGGGGATAGGGCACCAGGTTGGTCTGGAATTCTGTCAGGTCAACATTCAGGGCTCCATCAAATCTCAGGGAAGCAGTGATGGAGGACACAATTTGACCTATTAACCTATTCAGGTTAGTATAGGTTGGACGCTCAATATCGAGGTTTCTACGACAGATGTCATAGATGGCCTCATTGTCTACCATGAAGGCACAATCAGAGTGCTCCAGGGTGGTGTGGGTGGTGAGGATGGAGTTGTAGGGCTCAACTACAGCTGTGGAAACCTGGGGCGCCGGGTAAATAGAGAACTCCAGCTTGGACTTCTTGCCATAATCAACTGAGAGACGTTCCATGAGCAGCGAGGTGAACCCAGAACCAGTTCCCCCACCAAAGCTGTGGAAAACCAAGAAGCCCTGGAGACCCGTGCACTGGTCGGCCTATAACAAAAGAGAGGAACAGAGGAAAGGTTAAGTTTTTATTCTTTGTAGTACAATCATAGTAAATATATTTTCACTTTTCATACATCTTCCAGGACTTAGATCTTATTTTGACAAATGCTTTTTAAAAAATTCTCATTAACATTTACAAAATGACATCAAATAGTTCATTTTAACTGAATTTTAAAAACCCCAAAAGAATGACTCATTCCACTCTTTATTAAAATAACAGTTCAATTCTGTGTTTGAAAAAAAAAGCATTATTTCAAATGTGTTCTTTAGGCTCATTAATTTACTTTATTCTTGAAAAGAAACATACCAGCTTGCGAATTCGGTCCAACACGAGGTCAATGATCTCCTTGCCAATGGTGTAGTGCCCTCGGGCATAGTTATTGGCAGCATCTTCTTTGCCTGTGATAAGTTGCTCAGGGTGGAAGAGCTGGCGGTAGGTGCCAGTGCGAACTTCATCTGGAGAACATGATGGGGGAGGAGCAGGGGGGAGGAGGAGGAGGGACGAGGAGCGGGGAGGGAGAGTGGGTGAGTGACCAGCGGAGCCCCCCAGGACAGACCTCCTGTCCCAGCACCCTGGGATCTCACTTGGGTTACTGAGGTCAACTCACCAATGACTGTGGGTTCCAAGTCTACAAACACTGCCCGGGGCACATGCTTGCCAGCCCCCGTCTCACTGAAGAAGGTGTTGAAGGAATCATCTCCTCCCCCAATGGTCTTGTCACTTGGCATCTGGCCATCGGGCTGGATGCCGTGTTCCAGGCAGTAGAGCTCCCAGCAGGCATTGCCAATCTGGACACCAGCCTGGCCAACGTGGATGGAGATGCACTCACGCTGTGGGGAGGAAAAGTGAAAAAATCGTAAAATTAAGGTGTATTAGCATTTCAAACTTATAGGAAATTTCAAAAATATTTCTAATAATATACAGATATTTTTCTAAATTATTTGAGGTCATATCCCCAGCACGATACAAAGATTAAGGAAAATCACCTGCTACAAATGCTGCATATGGGTGTGGTCTGAATAATGATGTCGCCTTGGCCCTGTTCAGCACGTGGTACCAGCCCATTGTGCCTACTACCATGCTTGAATAGAAGATTTTTCATATTTAAAAAGTATTCAGTATTCAAAGCACAAATTTTGTAAAATG
|
Task1_train_17596
|
This is a variant in TUBA1A (tubulin alpha 1a), located on Chromosome 12. Is this mutation a likely cause of disease or not?
|
Pathogenic; Inborn genetic diseases
|
ATATATATATATAAAATAACATTTCCCATTATAACATAGTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGTAATTCTCTCTGAGTAGCTGGGATTACAGGCGTGTGTCACCACGCCTGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTAATTAACACATTAGAGTGAATAAATGTATCAGGCTTTTCCAACATGACATTCAGCTTAAAATAGGTTTGGAAAGAAGGTAAAGAACTAAGTCTAGCATAGGGCTGCTTGCTTTGAGAGGAGATTTGTTTTGGGAACCCTGGGCAGAAGAGGCATAATGGCACTAGACACATACCAAGGAGCGGAGGGCACATGAAAAACTGATGCATTTGGAATATTCACCATTTTATGTTAGTTACATAAGATTCAGCAGCCAACCAGATTTTGGCTATGTGTTACCAACTTTCAACTCTAAAAAGTACTGGCAGTTTAAATAACTTTATTATAATAATGAGGTAAAAACTTAATAGTATGAGCCGGGCACAGTGGTTCACGCCTGTAATCCCAGCACTTAGGGAGGCCGAGGCAAGCGGATCACTGGAGGTCAGGAGTCTGAGACCAGCCTGACCATCATGGTGAAACCCAGTCTCCACTAAAAATACAAAAATTAGTCAGGTGTGGTGGTGGATGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAAGCTCTTGAACCCAGGAGGTTGAGGTTGCAGTGAGCCCAGATCGTACCACTGCACTCCAGCCTGGGCAACAGAACAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAAAGTACATGATGCTCTGTAATGGTAATCTTTAGATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATACTTTAAATACAAACGTCACTTCCTAGGATATGTATAAACCACAGGCAACACTTATTTTTTATTCTCAATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAATTGTATATGAGAGCATACACTGCTACATACAAATTAACTGATCAGACCACAACTTTTCAATGTTTAAAACAGAATAAGCTTCCCTGTAAAAGCAGCACCTTTGTGACGTTTTAACTTTAGTATTCCTCTCCTTCTTCCTCACCCTCTCCTTCAACAGAATCCACACCAACCTCCTCATAATCCTTCTCAAGGGCAGCCATGTCCTCACGGGCCTCTGAAAACTCACCTTCCTCCATCCCCTCCCCAACGTACCAGTGAACAAAGGCACGTTTGGCATACATCAGGTCAAACTTGTGGTCCAGGCGAGCCCAGGCCTCAGCAATGGCTGTGGTGTTGCTCAGCATGCACACAGCTCTCTGTACCTTGGCCAGGTCTCCACCAGGCACCACAGTGGGAGGCTGGTAGTTGATGCCAACCTTGAAGCCAGTGGGGCACCAATCCACAAACTGGATGGTACGCTTGGTCTTGATGGTGGCAATGGCAGCATTGACATCTTTGGGAACCACGTCACCACGGTACAACAGGCAGCAAGCCATGTATTTACCATGGCGAGGGTCACATTTCACCATCTGGTTGGCTGGCTCAAAGCAAGCATTGGTGATCTCTGCTACAGAAAGCTGTTCATGGTAGGCTTTCTCAGCAGAGATGACAGGGGCATATGTGGCCAGAGGGAAGTGGATGCGGGGATAGGGCACCAGGTTGGTCTGGAATTCTGTCAGGTCAACATTCAGGGCTCCATCAAATCTCAGGGAAGCAGTGATGGAGGACACAATTTGACCTATTAACCTATTCAGGTTAGTATAGGTTGGACGCTCAATATCGAGGTTTCTACGACAGATGTCATAGATGGCCTCATTGTCTACCATGAAGGCACAATCAGAGTGCTCCAGGGTGGTGTGGGTGGTGAGGATGGAGTTGTAGGGCTCAACTACAGCTGTGGAAACCTGGGGCGCCGGGTAAATAGAGAACTCCAGCTTGGACTTCTTGCCATAATCAACTGAGAGACGTTCCATGAGCAGCGAGGTGAACCCAGAACCAGTTCCCCCACCAAAGCTGTGGAAAACCAAGAAGCCCTGGAGACCCGTGCACTGGTCGGCCTATAACAAAAGAGAGGAACAGAGGAAAGGTTAAGTTTTTATTCTTTGTAGTACAATCATAGTAAATATATTTTCACTTTTCATACATCTTCCAGGACTTAGATCTTATTTTGACAAATGCTTTTTAAAAAATTCTCATTAACATTTACAAAATGACATCAAATAGTTCATTTTAACTGAATTTTAAAAACCCCAAAAGAATGACTCATTCCACTCTTTATTAAAATAACAGTTCAATTCTGTGTTTGAAAAAAAAAGCATTATTTCAAATGTGTTCTTTAGGCTCATTAATTTACTTTATTCTTGAAAAGAAACATACCAGCTTGCGAATTCGGTCCAACACGAGGTCAATGATCTCCTTGCCAATGGTGTAGTGCCCTCGGGCATAGTTATTGGCAGCATCTTCTTTGCCTGTGATAAGTTGCTCAGGGTGGAAGAGCTGGCGGTAGGTGCCAGTGCGAACTTCATCTGGAGAACATGATGGGGGAGGAGCAGGGGGGAGGAGGAGGAGGGACGAGGAGCGGGGAGGGAGAGTGGGTGAGTGACCAGCGGAGCCCCCCAGGACAGACCTCCTGTCCCAGCACCCTGGGATCTCACTTGGGTTACTGAGGTCAACTCACCAATGACTGTGGGTTCCAAGTCTACAAACACTGCCCGGGGCACATGCTTGCCAGCCCCCGTCTCACTGAAGAAGGTGTTGAAGGAATCATCTCCTCCCCCAATGGTCTTGTCACTTGGCATCTGGCCATCGGGCTGGATGCCGTGTTCCAGGCAGTAGAGCTCCCAGCAGGCATTGCCAATCTGGACACCAGCCTGGCCAACGTGGATGGAGATGCACTCACGCTGTGGGGAGGAAAAGTGAAAAAATCGTAAAATTAAGGTGTATTAGCATTTCAAACTTATAGGAAATTTCAAAAATATTTCTAATAATATACAGATATTTTTCTAAATTATTTGAGGTCATATCCCCAGCACGATACAAAGATTAAGGAAAATCACCTGCTACAAATGCTGCATATGGGTGTGGTCTGAATAATGATGTCGCCTTGGCCCTGTTCAGCACGTGGTACCAGCCCATTGTGCCTACTACCATGCTTGAATAGAAGATTTTTCATATTTAAAAAGTATTCAGTATTCAAAGCACAAATTTTGTAAAATG
|
ATATATATATATAAAATAACATTTCCCATTATAACATAGTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGTAATTCTCTCTGAGTAGCTGGGATTACAGGCGTGTGTCACCACGCCTGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTAATTAACACATTAGAGTGAATAAATGTATCAGGCTTTTCCAACATGACATTCAGCTTAAAATAGGTTTGGAAAGAAGGTAAAGAACTAAGTCTAGCATAGGGCTGCTTGCTTTGAGAGGAGATTTGTTTTGGGAACCCTGGGCAGAAGAGGCATAATGGCACTAGACACATACCAAGGAGCGGAGGGCACATGAAAAACTGATGCATTTGGAATATTCACCATTTTATGTTAGTTACATAAGATTCAGCAGCCAACCAGATTTTGGCTATGTGTTACCAACTTTCAACTCTAAAAAGTACTGGCAGTTTAAATAACTTTATTATAATAATGAGGTAAAAACTTAATAGTATGAGCCGGGCACAGTGGTTCACGCCTGTAATCCCAGCACTTAGGGAGGCCGAGGCAAGCGGATCACTGGAGGTCAGGAGTCTGAGACCAGCCTGACCATCATGGTGAAACCCAGTCTCCACTAAAAATACAAAAATTAGTCAGGTGTGGTGGTGGATGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAAGCTCTTGAACCCAGGAGGTTGAGGTTGCAGTGAGCCCAGATCGTACCACTGCACTCCAGCCTGGGCAACAGAACAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAAAGTACATGATGCTCTGTAATGGTAATCTTTAGATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATACTTTAAATACAAACGTCACTTCCTAGGATATGTATAAACCACAGGCAACACTTATTTTTTATTCTCAATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAATTGTATATGAGAGCATACACTGCTACATACAAATTAACTGATCAGACCACAACTTTTCAATGTTTAAAACAGAATAAGCTTCCCTGTAAAAGCAGCACCTTTGTGACGTTTTAACTTTAGTATTCCTCTCCTTCTTCCTCACCCTCTCCTTCAACAGAATCCACACCAACCTCCTCATAATCCTTCTCAAGGGCAGCCATGTCCTCACAGGCCTCTGAAAACTCACCTTCCTCCATCCCCTCCCCAACGTACCAGTGAACAAAGGCACGTTTGGCATACATCAGGTCAAACTTGTGGTCCAGGCGAGCCCAGGCCTCAGCAATGGCTGTGGTGTTGCTCAGCATGCACACAGCTCTCTGTACCTTGGCCAGGTCTCCACCAGGCACCACAGTGGGAGGCTGGTAGTTGATGCCAACCTTGAAGCCAGTGGGGCACCAATCCACAAACTGGATGGTACGCTTGGTCTTGATGGTGGCAATGGCAGCATTGACATCTTTGGGAACCACGTCACCACGGTACAACAGGCAGCAAGCCATGTATTTACCATGGCGAGGGTCACATTTCACCATCTGGTTGGCTGGCTCAAAGCAAGCATTGGTGATCTCTGCTACAGAAAGCTGTTCATGGTAGGCTTTCTCAGCAGAGATGACAGGGGCATATGTGGCCAGAGGGAAGTGGATGCGGGGATAGGGCACCAGGTTGGTCTGGAATTCTGTCAGGTCAACATTCAGGGCTCCATCAAATCTCAGGGAAGCAGTGATGGAGGACACAATTTGACCTATTAACCTATTCAGGTTAGTATAGGTTGGACGCTCAATATCGAGGTTTCTACGACAGATGTCATAGATGGCCTCATTGTCTACCATGAAGGCACAATCAGAGTGCTCCAGGGTGGTGTGGGTGGTGAGGATGGAGTTGTAGGGCTCAACTACAGCTGTGGAAACCTGGGGCGCCGGGTAAATAGAGAACTCCAGCTTGGACTTCTTGCCATAATCAACTGAGAGACGTTCCATGAGCAGCGAGGTGAACCCAGAACCAGTTCCCCCACCAAAGCTGTGGAAAACCAAGAAGCCCTGGAGACCCGTGCACTGGTCGGCCTATAACAAAAGAGAGGAACAGAGGAAAGGTTAAGTTTTTATTCTTTGTAGTACAATCATAGTAAATATATTTTCACTTTTCATACATCTTCCAGGACTTAGATCTTATTTTGACAAATGCTTTTTAAAAAATTCTCATTAACATTTACAAAATGACATCAAATAGTTCATTTTAACTGAATTTTAAAAACCCCAAAAGAATGACTCATTCCACTCTTTATTAAAATAACAGTTCAATTCTGTGTTTGAAAAAAAAAGCATTATTTCAAATGTGTTCTTTAGGCTCATTAATTTACTTTATTCTTGAAAAGAAACATACCAGCTTGCGAATTCGGTCCAACACGAGGTCAATGATCTCCTTGCCAATGGTGTAGTGCCCTCGGGCATAGTTATTGGCAGCATCTTCTTTGCCTGTGATAAGTTGCTCAGGGTGGAAGAGCTGGCGGTAGGTGCCAGTGCGAACTTCATCTGGAGAACATGATGGGGGAGGAGCAGGGGGGAGGAGGAGGAGGGACGAGGAGCGGGGAGGGAGAGTGGGTGAGTGACCAGCGGAGCCCCCCAGGACAGACCTCCTGTCCCAGCACCCTGGGATCTCACTTGGGTTACTGAGGTCAACTCACCAATGACTGTGGGTTCCAAGTCTACAAACACTGCCCGGGGCACATGCTTGCCAGCCCCCGTCTCACTGAAGAAGGTGTTGAAGGAATCATCTCCTCCCCCAATGGTCTTGTCACTTGGCATCTGGCCATCGGGCTGGATGCCGTGTTCCAGGCAGTAGAGCTCCCAGCAGGCATTGCCAATCTGGACACCAGCCTGGCCAACGTGGATGGAGATGCACTCACGCTGTGGGGAGGAAAAGTGAAAAAATCGTAAAATTAAGGTGTATTAGCATTTCAAACTTATAGGAAATTTCAAAAATATTTCTAATAATATACAGATATTTTTCTAAATTATTTGAGGTCATATCCCCAGCACGATACAAAGATTAAGGAAAATCACCTGCTACAAATGCTGCATATGGGTGTGGTCTGAATAATGATGTCGCCTTGGCCCTGTTCAGCACGTGGTACCAGCCCATTGTGCCTACTACCATGCTTGAATAGAAGATTTTTCATATTTAAAAAGTATTCAGTATTCAAAGCACAAATTTTGTAAAATG
|
Task1_train_17597
|
A variant was discovered in gene TUBA1A (tubulin alpha 1a), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful.
|
Pathogenic; Tubulinopathy-associated dysgyria
|
ATATATATATATAAAATAACATTTCCCATTATAACATAGTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGTAATTCTCTCTGAGTAGCTGGGATTACAGGCGTGTGTCACCACGCCTGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTAATTAACACATTAGAGTGAATAAATGTATCAGGCTTTTCCAACATGACATTCAGCTTAAAATAGGTTTGGAAAGAAGGTAAAGAACTAAGTCTAGCATAGGGCTGCTTGCTTTGAGAGGAGATTTGTTTTGGGAACCCTGGGCAGAAGAGGCATAATGGCACTAGACACATACCAAGGAGCGGAGGGCACATGAAAAACTGATGCATTTGGAATATTCACCATTTTATGTTAGTTACATAAGATTCAGCAGCCAACCAGATTTTGGCTATGTGTTACCAACTTTCAACTCTAAAAAGTACTGGCAGTTTAAATAACTTTATTATAATAATGAGGTAAAAACTTAATAGTATGAGCCGGGCACAGTGGTTCACGCCTGTAATCCCAGCACTTAGGGAGGCCGAGGCAAGCGGATCACTGGAGGTCAGGAGTCTGAGACCAGCCTGACCATCATGGTGAAACCCAGTCTCCACTAAAAATACAAAAATTAGTCAGGTGTGGTGGTGGATGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAAGCTCTTGAACCCAGGAGGTTGAGGTTGCAGTGAGCCCAGATCGTACCACTGCACTCCAGCCTGGGCAACAGAACAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAAAGTACATGATGCTCTGTAATGGTAATCTTTAGATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATACTTTAAATACAAACGTCACTTCCTAGGATATGTATAAACCACAGGCAACACTTATTTTTTATTCTCAATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAATTGTATATGAGAGCATACACTGCTACATACAAATTAACTGATCAGACCACAACTTTTCAATGTTTAAAACAGAATAAGCTTCCCTGTAAAAGCAGCACCTTTGTGACGTTTTAACTTTAGTATTCCTCTCCTTCTTCCTCACCCTCTCCTTCAACAGAATCCACACCAACCTCCTCATAATCCTTCTCAAGGGCAGCCATGTCCTCACGGGCCTCTGAAAACTCACCTTCCTCCATCCCCTCCCCAACGTACCAGTGAACAAAGGCACGTTTGGCATACATCAGGTCAAACTTGTGGTCCAGGCGAGCCCAGGCCTCAGCAATGGCTGTGGTGTTGCTCAGCATGCACACAGCTCTCTGTACCTTGGCCAGGTCTCCACCAGGCACCACAGTGGGAGGCTGGTAGTTGATGCCAACCTTGAAGCCAGTGGGGCACCAATCCACAAACTGGATGGTACGCTTGGTCTTGATGGTGGCAATGGCAGCATTGACATCTTTGGGAACCACGTCACCACGGTACAACAGGCAGCAAGCCATGTATTTACCATGGCGAGGGTCACATTTCACCATCTGGTTGGCTGGCTCAAAGCAAGCATTGGTGATCTCTGCTACAGAAAGCTGTTCATGGTAGGCTTTCTCAGCAGAGATGACAGGGGCATATGTGGCCAGAGGGAAGTGGATGCGGGGATAGGGCACCAGGTTGGTCTGGAATTCTGTCAGGTCAACATTCAGGGCTCCATCAAATCTCAGGGAAGCAGTGATGGAGGACACAATTTGACCTATTAACCTATTCAGGTTAGTATAGGTTGGACGCTCAATATCGAGGTTTCTACGACAGATGTCATAGATGGCCTCATTGTCTACCATGAAGGCACAATCAGAGTGCTCCAGGGTGGTGTGGGTGGTGAGGATGGAGTTGTAGGGCTCAACTACAGCTGTGGAAACCTGGGGCGCCGGGTAAATAGAGAACTCCAGCTTGGACTTCTTGCCATAATCAACTGAGAGACGTTCCATGAGCAGCGAGGTGAACCCAGAACCAGTTCCCCCACCAAAGCTGTGGAAAACCAAGAAGCCCTGGAGACCCGTGCACTGGTCGGCCTATAACAAAAGAGAGGAACAGAGGAAAGGTTAAGTTTTTATTCTTTGTAGTACAATCATAGTAAATATATTTTCACTTTTCATACATCTTCCAGGACTTAGATCTTATTTTGACAAATGCTTTTTAAAAAATTCTCATTAACATTTACAAAATGACATCAAATAGTTCATTTTAACTGAATTTTAAAAACCCCAAAAGAATGACTCATTCCACTCTTTATTAAAATAACAGTTCAATTCTGTGTTTGAAAAAAAAAGCATTATTTCAAATGTGTTCTTTAGGCTCATTAATTTACTTTATTCTTGAAAAGAAACATACCAGCTTGCGAATTCGGTCCAACACGAGGTCAATGATCTCCTTGCCAATGGTGTAGTGCCCTCGGGCATAGTTATTGGCAGCATCTTCTTTGCCTGTGATAAGTTGCTCAGGGTGGAAGAGCTGGCGGTAGGTGCCAGTGCGAACTTCATCTGGAGAACATGATGGGGGAGGAGCAGGGGGGAGGAGGAGGAGGGACGAGGAGCGGGGAGGGAGAGTGGGTGAGTGACCAGCGGAGCCCCCCAGGACAGACCTCCTGTCCCAGCACCCTGGGATCTCACTTGGGTTACTGAGGTCAACTCACCAATGACTGTGGGTTCCAAGTCTACAAACACTGCCCGGGGCACATGCTTGCCAGCCCCCGTCTCACTGAAGAAGGTGTTGAAGGAATCATCTCCTCCCCCAATGGTCTTGTCACTTGGCATCTGGCCATCGGGCTGGATGCCGTGTTCCAGGCAGTAGAGCTCCCAGCAGGCATTGCCAATCTGGACACCAGCCTGGCCAACGTGGATGGAGATGCACTCACGCTGTGGGGAGGAAAAGTGAAAAAATCGTAAAATTAAGGTGTATTAGCATTTCAAACTTATAGGAAATTTCAAAAATATTTCTAATAATATACAGATATTTTTCTAAATTATTTGAGGTCATATCCCCAGCACGATACAAAGATTAAGGAAAATCACCTGCTACAAATGCTGCATATGGGTGTGGTCTGAATAATGATGTCGCCTTGGCCCTGTTCAGCACGTGGTACCAGCCCATTGTGCCTACTACCATGCTTGAATAGAAGATTTTTCATATTTAAAAAGTATTCAGTATTCAAAGCACAAATTTTGTAAAATG
|
ATATATATATATAAAATAACATTTCCCATTATAACATAGTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGTAATTCTCTCTGAGTAGCTGGGATTACAGGCGTGTGTCACCACGCCTGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTAATTAACACATTAGAGTGAATAAATGTATCAGGCTTTTCCAACATGACATTCAGCTTAAAATAGGTTTGGAAAGAAGGTAAAGAACTAAGTCTAGCATAGGGCTGCTTGCTTTGAGAGGAGATTTGTTTTGGGAACCCTGGGCAGAAGAGGCATAATGGCACTAGACACATACCAAGGAGCGGAGGGCACATGAAAAACTGATGCATTTGGAATATTCACCATTTTATGTTAGTTACATAAGATTCAGCAGCCAACCAGATTTTGGCTATGTGTTACCAACTTTCAACTCTAAAAAGTACTGGCAGTTTAAATAACTTTATTATAATAATGAGGTAAAAACTTAATAGTATGAGCCGGGCACAGTGGTTCACGCCTGTAATCCCAGCACTTAGGGAGGCCGAGGCAAGCGGATCACTGGAGGTCAGGAGTCTGAGACCAGCCTGACCATCATGGTGAAACCCAGTCTCCACTAAAAATACAAAAATTAGTCAGGTGTGGTGGTGGATGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAAGCTCTTGAACCCAGGAGGTTGAGGTTGCAGTGAGCCCAGATCGTACCACTGCACTCCAGCCTGGGCAACAGAACAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAAAGTACATGATGCTCTGTAATGGTAATCTTTAGATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATACTTTAAATACAAACGTCACTTCCTAGGATATGTATAAACCACAGGCAACACTTATTTTTTATTCTCAATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAATTGTATATGAGAGCATACACTGCTACATACAAATTAACTGATCAGACCACAACTTTTCAATGTTTAAAACAGAATAAGCTTCCCTGTAAAAGCAGCACCTTTGTGACGTTTTAACTTTAGTATTCCTCTCCTTCTTCCTCACCCTCTCCTTCAACAGAATCCACACCAACCTCCTCATAATCCTTCTCAAGGGCAGCCATGTCCTCACTGGCCTCTGAAAACTCACCTTCCTCCATCCCCTCCCCAACGTACCAGTGAACAAAGGCACGTTTGGCATACATCAGGTCAAACTTGTGGTCCAGGCGAGCCCAGGCCTCAGCAATGGCTGTGGTGTTGCTCAGCATGCACACAGCTCTCTGTACCTTGGCCAGGTCTCCACCAGGCACCACAGTGGGAGGCTGGTAGTTGATGCCAACCTTGAAGCCAGTGGGGCACCAATCCACAAACTGGATGGTACGCTTGGTCTTGATGGTGGCAATGGCAGCATTGACATCTTTGGGAACCACGTCACCACGGTACAACAGGCAGCAAGCCATGTATTTACCATGGCGAGGGTCACATTTCACCATCTGGTTGGCTGGCTCAAAGCAAGCATTGGTGATCTCTGCTACAGAAAGCTGTTCATGGTAGGCTTTCTCAGCAGAGATGACAGGGGCATATGTGGCCAGAGGGAAGTGGATGCGGGGATAGGGCACCAGGTTGGTCTGGAATTCTGTCAGGTCAACATTCAGGGCTCCATCAAATCTCAGGGAAGCAGTGATGGAGGACACAATTTGACCTATTAACCTATTCAGGTTAGTATAGGTTGGACGCTCAATATCGAGGTTTCTACGACAGATGTCATAGATGGCCTCATTGTCTACCATGAAGGCACAATCAGAGTGCTCCAGGGTGGTGTGGGTGGTGAGGATGGAGTTGTAGGGCTCAACTACAGCTGTGGAAACCTGGGGCGCCGGGTAAATAGAGAACTCCAGCTTGGACTTCTTGCCATAATCAACTGAGAGACGTTCCATGAGCAGCGAGGTGAACCCAGAACCAGTTCCCCCACCAAAGCTGTGGAAAACCAAGAAGCCCTGGAGACCCGTGCACTGGTCGGCCTATAACAAAAGAGAGGAACAGAGGAAAGGTTAAGTTTTTATTCTTTGTAGTACAATCATAGTAAATATATTTTCACTTTTCATACATCTTCCAGGACTTAGATCTTATTTTGACAAATGCTTTTTAAAAAATTCTCATTAACATTTACAAAATGACATCAAATAGTTCATTTTAACTGAATTTTAAAAACCCCAAAAGAATGACTCATTCCACTCTTTATTAAAATAACAGTTCAATTCTGTGTTTGAAAAAAAAAGCATTATTTCAAATGTGTTCTTTAGGCTCATTAATTTACTTTATTCTTGAAAAGAAACATACCAGCTTGCGAATTCGGTCCAACACGAGGTCAATGATCTCCTTGCCAATGGTGTAGTGCCCTCGGGCATAGTTATTGGCAGCATCTTCTTTGCCTGTGATAAGTTGCTCAGGGTGGAAGAGCTGGCGGTAGGTGCCAGTGCGAACTTCATCTGGAGAACATGATGGGGGAGGAGCAGGGGGGAGGAGGAGGAGGGACGAGGAGCGGGGAGGGAGAGTGGGTGAGTGACCAGCGGAGCCCCCCAGGACAGACCTCCTGTCCCAGCACCCTGGGATCTCACTTGGGTTACTGAGGTCAACTCACCAATGACTGTGGGTTCCAAGTCTACAAACACTGCCCGGGGCACATGCTTGCCAGCCCCCGTCTCACTGAAGAAGGTGTTGAAGGAATCATCTCCTCCCCCAATGGTCTTGTCACTTGGCATCTGGCCATCGGGCTGGATGCCGTGTTCCAGGCAGTAGAGCTCCCAGCAGGCATTGCCAATCTGGACACCAGCCTGGCCAACGTGGATGGAGATGCACTCACGCTGTGGGGAGGAAAAGTGAAAAAATCGTAAAATTAAGGTGTATTAGCATTTCAAACTTATAGGAAATTTCAAAAATATTTCTAATAATATACAGATATTTTTCTAAATTATTTGAGGTCATATCCCCAGCACGATACAAAGATTAAGGAAAATCACCTGCTACAAATGCTGCATATGGGTGTGGTCTGAATAATGATGTCGCCTTGGCCCTGTTCAGCACGTGGTACCAGCCCATTGTGCCTACTACCATGCTTGAATAGAAGATTTTTCATATTTAAAAAGTATTCAGTATTCAAAGCACAAATTTTGTAAAATG
|
Task1_train_17598
|
With a mutation on Chromosome 12 in gene TUBA1A (tubulin alpha 1a), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
|
Pathogenic; Lissencephaly due to TUBA1A mutation
|
TTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGTAATTCTCTCTGAGTAGCTGGGATTACAGGCGTGTGTCACCACGCCTGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTAATTAACACATTAGAGTGAATAAATGTATCAGGCTTTTCCAACATGACATTCAGCTTAAAATAGGTTTGGAAAGAAGGTAAAGAACTAAGTCTAGCATAGGGCTGCTTGCTTTGAGAGGAGATTTGTTTTGGGAACCCTGGGCAGAAGAGGCATAATGGCACTAGACACATACCAAGGAGCGGAGGGCACATGAAAAACTGATGCATTTGGAATATTCACCATTTTATGTTAGTTACATAAGATTCAGCAGCCAACCAGATTTTGGCTATGTGTTACCAACTTTCAACTCTAAAAAGTACTGGCAGTTTAAATAACTTTATTATAATAATGAGGTAAAAACTTAATAGTATGAGCCGGGCACAGTGGTTCACGCCTGTAATCCCAGCACTTAGGGAGGCCGAGGCAAGCGGATCACTGGAGGTCAGGAGTCTGAGACCAGCCTGACCATCATGGTGAAACCCAGTCTCCACTAAAAATACAAAAATTAGTCAGGTGTGGTGGTGGATGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAAGCTCTTGAACCCAGGAGGTTGAGGTTGCAGTGAGCCCAGATCGTACCACTGCACTCCAGCCTGGGCAACAGAACAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAAAGTACATGATGCTCTGTAATGGTAATCTTTAGATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATACTTTAAATACAAACGTCACTTCCTAGGATATGTATAAACCACAGGCAACACTTATTTTTTATTCTCAATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAATTGTATATGAGAGCATACACTGCTACATACAAATTAACTGATCAGACCACAACTTTTCAATGTTTAAAACAGAATAAGCTTCCCTGTAAAAGCAGCACCTTTGTGACGTTTTAACTTTAGTATTCCTCTCCTTCTTCCTCACCCTCTCCTTCAACAGAATCCACACCAACCTCCTCATAATCCTTCTCAAGGGCAGCCATGTCCTCACGGGCCTCTGAAAACTCACCTTCCTCCATCCCCTCCCCAACGTACCAGTGAACAAAGGCACGTTTGGCATACATCAGGTCAAACTTGTGGTCCAGGCGAGCCCAGGCCTCAGCAATGGCTGTGGTGTTGCTCAGCATGCACACAGCTCTCTGTACCTTGGCCAGGTCTCCACCAGGCACCACAGTGGGAGGCTGGTAGTTGATGCCAACCTTGAAGCCAGTGGGGCACCAATCCACAAACTGGATGGTACGCTTGGTCTTGATGGTGGCAATGGCAGCATTGACATCTTTGGGAACCACGTCACCACGGTACAACAGGCAGCAAGCCATGTATTTACCATGGCGAGGGTCACATTTCACCATCTGGTTGGCTGGCTCAAAGCAAGCATTGGTGATCTCTGCTACAGAAAGCTGTTCATGGTAGGCTTTCTCAGCAGAGATGACAGGGGCATATGTGGCCAGAGGGAAGTGGATGCGGGGATAGGGCACCAGGTTGGTCTGGAATTCTGTCAGGTCAACATTCAGGGCTCCATCAAATCTCAGGGAAGCAGTGATGGAGGACACAATTTGACCTATTAACCTATTCAGGTTAGTATAGGTTGGACGCTCAATATCGAGGTTTCTACGACAGATGTCATAGATGGCCTCATTGTCTACCATGAAGGCACAATCAGAGTGCTCCAGGGTGGTGTGGGTGGTGAGGATGGAGTTGTAGGGCTCAACTACAGCTGTGGAAACCTGGGGCGCCGGGTAAATAGAGAACTCCAGCTTGGACTTCTTGCCATAATCAACTGAGAGACGTTCCATGAGCAGCGAGGTGAACCCAGAACCAGTTCCCCCACCAAAGCTGTGGAAAACCAAGAAGCCCTGGAGACCCGTGCACTGGTCGGCCTATAACAAAAGAGAGGAACAGAGGAAAGGTTAAGTTTTTATTCTTTGTAGTACAATCATAGTAAATATATTTTCACTTTTCATACATCTTCCAGGACTTAGATCTTATTTTGACAAATGCTTTTTAAAAAATTCTCATTAACATTTACAAAATGACATCAAATAGTTCATTTTAACTGAATTTTAAAAACCCCAAAAGAATGACTCATTCCACTCTTTATTAAAATAACAGTTCAATTCTGTGTTTGAAAAAAAAAGCATTATTTCAAATGTGTTCTTTAGGCTCATTAATTTACTTTATTCTTGAAAAGAAACATACCAGCTTGCGAATTCGGTCCAACACGAGGTCAATGATCTCCTTGCCAATGGTGTAGTGCCCTCGGGCATAGTTATTGGCAGCATCTTCTTTGCCTGTGATAAGTTGCTCAGGGTGGAAGAGCTGGCGGTAGGTGCCAGTGCGAACTTCATCTGGAGAACATGATGGGGGAGGAGCAGGGGGGAGGAGGAGGAGGGACGAGGAGCGGGGAGGGAGAGTGGGTGAGTGACCAGCGGAGCCCCCCAGGACAGACCTCCTGTCCCAGCACCCTGGGATCTCACTTGGGTTACTGAGGTCAACTCACCAATGACTGTGGGTTCCAAGTCTACAAACACTGCCCGGGGCACATGCTTGCCAGCCCCCGTCTCACTGAAGAAGGTGTTGAAGGAATCATCTCCTCCCCCAATGGTCTTGTCACTTGGCATCTGGCCATCGGGCTGGATGCCGTGTTCCAGGCAGTAGAGCTCCCAGCAGGCATTGCCAATCTGGACACCAGCCTGGCCAACGTGGATGGAGATGCACTCACGCTGTGGGGAGGAAAAGTGAAAAAATCGTAAAATTAAGGTGTATTAGCATTTCAAACTTATAGGAAATTTCAAAAATATTTCTAATAATATACAGATATTTTTCTAAATTATTTGAGGTCATATCCCCAGCACGATACAAAGATTAAGGAAAATCACCTGCTACAAATGCTGCATATGGGTGTGGTCTGAATAATGATGTCGCCTTGGCCCTGTTCAGCACGTGGTACCAGCCCATTGTGCCTACTACCATGCTTGAATAGAAGATTTTTCATATTTAAAAAGTATTCAGTATTCAAAGCACAAATTTTGTAAAATGAAGTAAATCCAATTATGACTTAATTGGGATTAATTTTAC
|
TTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGTAATTCTCTCTGAGTAGCTGGGATTACAGGCGTGTGTCACCACGCCTGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTAATTAACACATTAGAGTGAATAAATGTATCAGGCTTTTCCAACATGACATTCAGCTTAAAATAGGTTTGGAAAGAAGGTAAAGAACTAAGTCTAGCATAGGGCTGCTTGCTTTGAGAGGAGATTTGTTTTGGGAACCCTGGGCAGAAGAGGCATAATGGCACTAGACACATACCAAGGAGCGGAGGGCACATGAAAAACTGATGCATTTGGAATATTCACCATTTTATGTTAGTTACATAAGATTCAGCAGCCAACCAGATTTTGGCTATGTGTTACCAACTTTCAACTCTAAAAAGTACTGGCAGTTTAAATAACTTTATTATAATAATGAGGTAAAAACTTAATAGTATGAGCCGGGCACAGTGGTTCACGCCTGTAATCCCAGCACTTAGGGAGGCCGAGGCAAGCGGATCACTGGAGGTCAGGAGTCTGAGACCAGCCTGACCATCATGGTGAAACCCAGTCTCCACTAAAAATACAAAAATTAGTCAGGTGTGGTGGTGGATGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAAGCTCTTGAACCCAGGAGGTTGAGGTTGCAGTGAGCCCAGATCGTACCACTGCACTCCAGCCTGGGCAACAGAACAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAAAGTACATGATGCTCTGTAATGGTAATCTTTAGATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATACTTTAAATACAAACGTCACTTCCTAGGATATGTATAAACCACAGGCAACACTTATTTTTTATTCTCAATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAATTGTATATGAGAGCATACACTGCTACATACAAATTAACTGATCAGACCACAACTTTTCAATGTTTAAAACAGAATAAGCTTCCCTGTAAAAGCAGCACCTTTGTGACGTTTTAACTTTAGTATTCCTCTCCTTCTTCCTCACCCTCTCCTTCAACAGAATCCACACCAACCTCCTCATAATCCTTCTCAAGGGCAGCCATGTCCTCACGGGCCTCTGAAAACTCACCTTCCTCCATCCCCTCCCCAATGTACCAGTGAACAAAGGCACGTTTGGCATACATCAGGTCAAACTTGTGGTCCAGGCGAGCCCAGGCCTCAGCAATGGCTGTGGTGTTGCTCAGCATGCACACAGCTCTCTGTACCTTGGCCAGGTCTCCACCAGGCACCACAGTGGGAGGCTGGTAGTTGATGCCAACCTTGAAGCCAGTGGGGCACCAATCCACAAACTGGATGGTACGCTTGGTCTTGATGGTGGCAATGGCAGCATTGACATCTTTGGGAACCACGTCACCACGGTACAACAGGCAGCAAGCCATGTATTTACCATGGCGAGGGTCACATTTCACCATCTGGTTGGCTGGCTCAAAGCAAGCATTGGTGATCTCTGCTACAGAAAGCTGTTCATGGTAGGCTTTCTCAGCAGAGATGACAGGGGCATATGTGGCCAGAGGGAAGTGGATGCGGGGATAGGGCACCAGGTTGGTCTGGAATTCTGTCAGGTCAACATTCAGGGCTCCATCAAATCTCAGGGAAGCAGTGATGGAGGACACAATTTGACCTATTAACCTATTCAGGTTAGTATAGGTTGGACGCTCAATATCGAGGTTTCTACGACAGATGTCATAGATGGCCTCATTGTCTACCATGAAGGCACAATCAGAGTGCTCCAGGGTGGTGTGGGTGGTGAGGATGGAGTTGTAGGGCTCAACTACAGCTGTGGAAACCTGGGGCGCCGGGTAAATAGAGAACTCCAGCTTGGACTTCTTGCCATAATCAACTGAGAGACGTTCCATGAGCAGCGAGGTGAACCCAGAACCAGTTCCCCCACCAAAGCTGTGGAAAACCAAGAAGCCCTGGAGACCCGTGCACTGGTCGGCCTATAACAAAAGAGAGGAACAGAGGAAAGGTTAAGTTTTTATTCTTTGTAGTACAATCATAGTAAATATATTTTCACTTTTCATACATCTTCCAGGACTTAGATCTTATTTTGACAAATGCTTTTTAAAAAATTCTCATTAACATTTACAAAATGACATCAAATAGTTCATTTTAACTGAATTTTAAAAACCCCAAAAGAATGACTCATTCCACTCTTTATTAAAATAACAGTTCAATTCTGTGTTTGAAAAAAAAAGCATTATTTCAAATGTGTTCTTTAGGCTCATTAATTTACTTTATTCTTGAAAAGAAACATACCAGCTTGCGAATTCGGTCCAACACGAGGTCAATGATCTCCTTGCCAATGGTGTAGTGCCCTCGGGCATAGTTATTGGCAGCATCTTCTTTGCCTGTGATAAGTTGCTCAGGGTGGAAGAGCTGGCGGTAGGTGCCAGTGCGAACTTCATCTGGAGAACATGATGGGGGAGGAGCAGGGGGGAGGAGGAGGAGGGACGAGGAGCGGGGAGGGAGAGTGGGTGAGTGACCAGCGGAGCCCCCCAGGACAGACCTCCTGTCCCAGCACCCTGGGATCTCACTTGGGTTACTGAGGTCAACTCACCAATGACTGTGGGTTCCAAGTCTACAAACACTGCCCGGGGCACATGCTTGCCAGCCCCCGTCTCACTGAAGAAGGTGTTGAAGGAATCATCTCCTCCCCCAATGGTCTTGTCACTTGGCATCTGGCCATCGGGCTGGATGCCGTGTTCCAGGCAGTAGAGCTCCCAGCAGGCATTGCCAATCTGGACACCAGCCTGGCCAACGTGGATGGAGATGCACTCACGCTGTGGGGAGGAAAAGTGAAAAAATCGTAAAATTAAGGTGTATTAGCATTTCAAACTTATAGGAAATTTCAAAAATATTTCTAATAATATACAGATATTTTTCTAAATTATTTGAGGTCATATCCCCAGCACGATACAAAGATTAAGGAAAATCACCTGCTACAAATGCTGCATATGGGTGTGGTCTGAATAATGATGTCGCCTTGGCCCTGTTCAGCACGTGGTACCAGCCCATTGTGCCTACTACCATGCTTGAATAGAAGATTTTTCATATTTAAAAAGTATTCAGTATTCAAAGCACAAATTTTGTAAAATGAAGTAAATCCAATTATGACTTAATTGGGATTAATTTTAC
|
Task1_train_17599
|
Consider this mutation in TUBA1A (tubulin alpha 1a) on Chromosome 12. Is this a benign change or a disease-causing variant?
|
Pathogenic; Tubulinopathy
|
TTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGTAATTCTCTCTGAGTAGCTGGGATTACAGGCGTGTGTCACCACGCCTGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTAATTAACACATTAGAGTGAATAAATGTATCAGGCTTTTCCAACATGACATTCAGCTTAAAATAGGTTTGGAAAGAAGGTAAAGAACTAAGTCTAGCATAGGGCTGCTTGCTTTGAGAGGAGATTTGTTTTGGGAACCCTGGGCAGAAGAGGCATAATGGCACTAGACACATACCAAGGAGCGGAGGGCACATGAAAAACTGATGCATTTGGAATATTCACCATTTTATGTTAGTTACATAAGATTCAGCAGCCAACCAGATTTTGGCTATGTGTTACCAACTTTCAACTCTAAAAAGTACTGGCAGTTTAAATAACTTTATTATAATAATGAGGTAAAAACTTAATAGTATGAGCCGGGCACAGTGGTTCACGCCTGTAATCCCAGCACTTAGGGAGGCCGAGGCAAGCGGATCACTGGAGGTCAGGAGTCTGAGACCAGCCTGACCATCATGGTGAAACCCAGTCTCCACTAAAAATACAAAAATTAGTCAGGTGTGGTGGTGGATGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAAGCTCTTGAACCCAGGAGGTTGAGGTTGCAGTGAGCCCAGATCGTACCACTGCACTCCAGCCTGGGCAACAGAACAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAAAGTACATGATGCTCTGTAATGGTAATCTTTAGATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATACTTTAAATACAAACGTCACTTCCTAGGATATGTATAAACCACAGGCAACACTTATTTTTTATTCTCAATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAATTGTATATGAGAGCATACACTGCTACATACAAATTAACTGATCAGACCACAACTTTTCAATGTTTAAAACAGAATAAGCTTCCCTGTAAAAGCAGCACCTTTGTGACGTTTTAACTTTAGTATTCCTCTCCTTCTTCCTCACCCTCTCCTTCAACAGAATCCACACCAACCTCCTCATAATCCTTCTCAAGGGCAGCCATGTCCTCACGGGCCTCTGAAAACTCACCTTCCTCCATCCCCTCCCCAACGTACCAGTGAACAAAGGCACGTTTGGCATACATCAGGTCAAACTTGTGGTCCAGGCGAGCCCAGGCCTCAGCAATGGCTGTGGTGTTGCTCAGCATGCACACAGCTCTCTGTACCTTGGCCAGGTCTCCACCAGGCACCACAGTGGGAGGCTGGTAGTTGATGCCAACCTTGAAGCCAGTGGGGCACCAATCCACAAACTGGATGGTACGCTTGGTCTTGATGGTGGCAATGGCAGCATTGACATCTTTGGGAACCACGTCACCACGGTACAACAGGCAGCAAGCCATGTATTTACCATGGCGAGGGTCACATTTCACCATCTGGTTGGCTGGCTCAAAGCAAGCATTGGTGATCTCTGCTACAGAAAGCTGTTCATGGTAGGCTTTCTCAGCAGAGATGACAGGGGCATATGTGGCCAGAGGGAAGTGGATGCGGGGATAGGGCACCAGGTTGGTCTGGAATTCTGTCAGGTCAACATTCAGGGCTCCATCAAATCTCAGGGAAGCAGTGATGGAGGACACAATTTGACCTATTAACCTATTCAGGTTAGTATAGGTTGGACGCTCAATATCGAGGTTTCTACGACAGATGTCATAGATGGCCTCATTGTCTACCATGAAGGCACAATCAGAGTGCTCCAGGGTGGTGTGGGTGGTGAGGATGGAGTTGTAGGGCTCAACTACAGCTGTGGAAACCTGGGGCGCCGGGTAAATAGAGAACTCCAGCTTGGACTTCTTGCCATAATCAACTGAGAGACGTTCCATGAGCAGCGAGGTGAACCCAGAACCAGTTCCCCCACCAAAGCTGTGGAAAACCAAGAAGCCCTGGAGACCCGTGCACTGGTCGGCCTATAACAAAAGAGAGGAACAGAGGAAAGGTTAAGTTTTTATTCTTTGTAGTACAATCATAGTAAATATATTTTCACTTTTCATACATCTTCCAGGACTTAGATCTTATTTTGACAAATGCTTTTTAAAAAATTCTCATTAACATTTACAAAATGACATCAAATAGTTCATTTTAACTGAATTTTAAAAACCCCAAAAGAATGACTCATTCCACTCTTTATTAAAATAACAGTTCAATTCTGTGTTTGAAAAAAAAAGCATTATTTCAAATGTGTTCTTTAGGCTCATTAATTTACTTTATTCTTGAAAAGAAACATACCAGCTTGCGAATTCGGTCCAACACGAGGTCAATGATCTCCTTGCCAATGGTGTAGTGCCCTCGGGCATAGTTATTGGCAGCATCTTCTTTGCCTGTGATAAGTTGCTCAGGGTGGAAGAGCTGGCGGTAGGTGCCAGTGCGAACTTCATCTGGAGAACATGATGGGGGAGGAGCAGGGGGGAGGAGGAGGAGGGACGAGGAGCGGGGAGGGAGAGTGGGTGAGTGACCAGCGGAGCCCCCCAGGACAGACCTCCTGTCCCAGCACCCTGGGATCTCACTTGGGTTACTGAGGTCAACTCACCAATGACTGTGGGTTCCAAGTCTACAAACACTGCCCGGGGCACATGCTTGCCAGCCCCCGTCTCACTGAAGAAGGTGTTGAAGGAATCATCTCCTCCCCCAATGGTCTTGTCACTTGGCATCTGGCCATCGGGCTGGATGCCGTGTTCCAGGCAGTAGAGCTCCCAGCAGGCATTGCCAATCTGGACACCAGCCTGGCCAACGTGGATGGAGATGCACTCACGCTGTGGGGAGGAAAAGTGAAAAAATCGTAAAATTAAGGTGTATTAGCATTTCAAACTTATAGGAAATTTCAAAAATATTTCTAATAATATACAGATATTTTTCTAAATTATTTGAGGTCATATCCCCAGCACGATACAAAGATTAAGGAAAATCACCTGCTACAAATGCTGCATATGGGTGTGGTCTGAATAATGATGTCGCCTTGGCCCTGTTCAGCACGTGGTACCAGCCCATTGTGCCTACTACCATGCTTGAATAGAAGATTTTTCATATTTAAAAAGTATTCAGTATTCAAAGCACAAATTTTGTAAAATGAAGTAAATCCAATTATGACTTAATTGGGATTAATTTTAC
|
TTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGTAATTCTCTCTGAGTAGCTGGGATTACAGGCGTGTGTCACCACGCCTGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTAATTAACACATTAGAGTGAATAAATGTATCAGGCTTTTCCAACATGACATTCAGCTTAAAATAGGTTTGGAAAGAAGGTAAAGAACTAAGTCTAGCATAGGGCTGCTTGCTTTGAGAGGAGATTTGTTTTGGGAACCCTGGGCAGAAGAGGCATAATGGCACTAGACACATACCAAGGAGCGGAGGGCACATGAAAAACTGATGCATTTGGAATATTCACCATTTTATGTTAGTTACATAAGATTCAGCAGCCAACCAGATTTTGGCTATGTGTTACCAACTTTCAACTCTAAAAAGTACTGGCAGTTTAAATAACTTTATTATAATAATGAGGTAAAAACTTAATAGTATGAGCCGGGCACAGTGGTTCACGCCTGTAATCCCAGCACTTAGGGAGGCCGAGGCAAGCGGATCACTGGAGGTCAGGAGTCTGAGACCAGCCTGACCATCATGGTGAAACCCAGTCTCCACTAAAAATACAAAAATTAGTCAGGTGTGGTGGTGGATGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAAGCTCTTGAACCCAGGAGGTTGAGGTTGCAGTGAGCCCAGATCGTACCACTGCACTCCAGCCTGGGCAACAGAACAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAAAGTACATGATGCTCTGTAATGGTAATCTTTAGATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATACTTTAAATACAAACGTCACTTCCTAGGATATGTATAAACCACAGGCAACACTTATTTTTTATTCTCAATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAATTGTATATGAGAGCATACACTGCTACATACAAATTAACTGATCAGACCACAACTTTTCAATGTTTAAAACAGAATAAGCTTCCCTGTAAAAGCAGCACCTTTGTGACGTTTTAACTTTAGTATTCCTCTCCTTCTTCCTCACCCTCTCCTTCAACAGAATCCACACCAACCTCCTCATAATCCTTCTCAAGGGCAGCCATGTCCTCACGGGCCTCTGAAAACTCACCTTCCTCCATCCCCTCCCCAATGTACCAGTGAACAAAGGCACGTTTGGCATACATCAGGTCAAACTTGTGGTCCAGGCGAGCCCAGGCCTCAGCAATGGCTGTGGTGTTGCTCAGCATGCACACAGCTCTCTGTACCTTGGCCAGGTCTCCACCAGGCACCACAGTGGGAGGCTGGTAGTTGATGCCAACCTTGAAGCCAGTGGGGCACCAATCCACAAACTGGATGGTACGCTTGGTCTTGATGGTGGCAATGGCAGCATTGACATCTTTGGGAACCACGTCACCACGGTACAACAGGCAGCAAGCCATGTATTTACCATGGCGAGGGTCACATTTCACCATCTGGTTGGCTGGCTCAAAGCAAGCATTGGTGATCTCTGCTACAGAAAGCTGTTCATGGTAGGCTTTCTCAGCAGAGATGACAGGGGCATATGTGGCCAGAGGGAAGTGGATGCGGGGATAGGGCACCAGGTTGGTCTGGAATTCTGTCAGGTCAACATTCAGGGCTCCATCAAATCTCAGGGAAGCAGTGATGGAGGACACAATTTGACCTATTAACCTATTCAGGTTAGTATAGGTTGGACGCTCAATATCGAGGTTTCTACGACAGATGTCATAGATGGCCTCATTGTCTACCATGAAGGCACAATCAGAGTGCTCCAGGGTGGTGTGGGTGGTGAGGATGGAGTTGTAGGGCTCAACTACAGCTGTGGAAACCTGGGGCGCCGGGTAAATAGAGAACTCCAGCTTGGACTTCTTGCCATAATCAACTGAGAGACGTTCCATGAGCAGCGAGGTGAACCCAGAACCAGTTCCCCCACCAAAGCTGTGGAAAACCAAGAAGCCCTGGAGACCCGTGCACTGGTCGGCCTATAACAAAAGAGAGGAACAGAGGAAAGGTTAAGTTTTTATTCTTTGTAGTACAATCATAGTAAATATATTTTCACTTTTCATACATCTTCCAGGACTTAGATCTTATTTTGACAAATGCTTTTTAAAAAATTCTCATTAACATTTACAAAATGACATCAAATAGTTCATTTTAACTGAATTTTAAAAACCCCAAAAGAATGACTCATTCCACTCTTTATTAAAATAACAGTTCAATTCTGTGTTTGAAAAAAAAAGCATTATTTCAAATGTGTTCTTTAGGCTCATTAATTTACTTTATTCTTGAAAAGAAACATACCAGCTTGCGAATTCGGTCCAACACGAGGTCAATGATCTCCTTGCCAATGGTGTAGTGCCCTCGGGCATAGTTATTGGCAGCATCTTCTTTGCCTGTGATAAGTTGCTCAGGGTGGAAGAGCTGGCGGTAGGTGCCAGTGCGAACTTCATCTGGAGAACATGATGGGGGAGGAGCAGGGGGGAGGAGGAGGAGGGACGAGGAGCGGGGAGGGAGAGTGGGTGAGTGACCAGCGGAGCCCCCCAGGACAGACCTCCTGTCCCAGCACCCTGGGATCTCACTTGGGTTACTGAGGTCAACTCACCAATGACTGTGGGTTCCAAGTCTACAAACACTGCCCGGGGCACATGCTTGCCAGCCCCCGTCTCACTGAAGAAGGTGTTGAAGGAATCATCTCCTCCCCCAATGGTCTTGTCACTTGGCATCTGGCCATCGGGCTGGATGCCGTGTTCCAGGCAGTAGAGCTCCCAGCAGGCATTGCCAATCTGGACACCAGCCTGGCCAACGTGGATGGAGATGCACTCACGCTGTGGGGAGGAAAAGTGAAAAAATCGTAAAATTAAGGTGTATTAGCATTTCAAACTTATAGGAAATTTCAAAAATATTTCTAATAATATACAGATATTTTTCTAAATTATTTGAGGTCATATCCCCAGCACGATACAAAGATTAAGGAAAATCACCTGCTACAAATGCTGCATATGGGTGTGGTCTGAATAATGATGTCGCCTTGGCCCTGTTCAGCACGTGGTACCAGCCCATTGTGCCTACTACCATGCTTGAATAGAAGATTTTTCATATTTAAAAAGTATTCAGTATTCAAAGCACAAATTTTGTAAAATGAAGTAAATCCAATTATGACTTAATTGGGATTAATTTTAC
|
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.