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_16300
|
A variant found in Chromosome 11 affects MYO7A (myosin VIIA). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
|
Pathogenic; Usher syndrome type 1
|
CTGTCAGGGGTAAGCCCAGGGTCAGGGAGTGCAGCTGGGGCTTGGACACAAGCAGCTGTGAGGATTATATGGGGCAGTTTACGGGATGCAGCCTGTGGAGCCCAGGCCCACAGTGAATGCTCAGTAAACAGTTCTCTTCCACGCCCAAGCCTCTCCAATTTTTCTTACTTTTTCTGGGAGGAAGTTTGGGTTTGGGACTAGCCTGACTCTATCATGTGCCAACCTCCCATTCACATGAAGAGAGGGTCCACAGGGGCAGCTGTGGCTGGAAAATAGCACATAGATGGCAGTGGTCCCATAAGACTATAATGCCATATTTTACTGTACCTTTTATGTGTATGTTTAGATATGTTTACATACACAAATACACACTATGGATTATGACTGCCTATAGTATTCAGTACAGTAGCAGGTTGTACAGGTTTGTAGTGTAGGAGCAAGAGGCTACCCCATCCAGCCTAGGTGTGTAGTGGGCTGTACCATCTAGGTTTGTGAAGTACACTCGATGACTTCATATGTTTGCATAGAACTTATCTCTGACATTAACAATGCATGACTGTAGCTGGTTCTGATGGGAACAAGAGGAGGCTGAAACAGTAATGAGTTGGTCTTGGACTCACTGAGTTCAGCCTTCACTGAGAAATGTGGAAATTGAGGCTCAGAGAGGTCAGCGACTCACCCAAGGCCGGGTAGGGCCTGAAACCCAGTCTTCTGACTCCTAGCCCAGAACAGATTCTGTCAGACCATTACCACGGTTTACTTCATTGTGAATCAGTTTTATAAGTTGTTACATTTTTTTTTACTTGATATTAAGTTATATTCTTATTAGAATGTCCCAACTCCTAGGGAGTTGGAGTACCACCCAAAAAAGAATACTTTTATTAGGATTAGAATAAAATCTAAGCTTGTATCCCAAGGCCAGCAAAGGGCCTATGTGTCCTGGACCCTGCCTACTTCTCTGAGCTCCCTCTCGCCCATCAGGTCCTACCTCCTGGCTGTTCCTTTCTGCCGCAGGGCCTTTGCATGTGCTGTTTCCTATGCTGGGATTACTGTCCCCTGCTTTTCCCTTGGCTGACTGCTTGTCACCCTTCAGGTGTCAGCTCAGCGATTCCCTCCATGGAGCGGCTCCATTGGCTACTGGGTCTAGGTTGGTTGGCTCTGTCATTCTCCACCATTGGCTTGTTTGTTTCCTTGACAGCACTCACCAGTATCCAAAGTGATCGTGCTGATCTATTTGCTCAGTTTTTTGTCACCACCTCTAACTAGAACGTAGACTCCATAATCACTGCTCAACCCCCAGCATTTAGATTAATCAGTGCTTTGCACTCAGTAGGTAATCAATACATGTTTGTTGAATCCATCAGTGCTGAATGTGGTTGTTCTTAGTCCATTTCTCTGACTTGGGATTTTACGTTTGGCTCTCACGATCCCTTGCTGAATGAGTAGTGCGAGTCAGGCCCTGGGCCAGATGCCGCAGGGGACACAAAGCGACATCCTCCCCCAGGATCAGGGCTCTCTCCACATGCCAGAAGACAATGTGGCTGAACCCTTCTCTAGTGCCCAGCACGGAGTGGTGTCCCTGTGAGGAACCTGTCATAATGATGATAAAAATCAGCCCTGGAGGTGAAGGAGGCTGCAGCATTCACCCACTGTCTGGGTGTCCTGTGGTGTCATGTTAGAGAGGAAGTGGTTTGAGTGGTCTGGTGTTTCTGTCTAGACCCCAGTGAATCTGTCATACACATGTAGGGTGTAGATCCATGGGGAGAGCTGGGCTTTGAGAGGCCTTGGCTCTCTCTGAGCCTCTGCTAAGTCATCCATAAAATGGGAATATGGCTGTTCTAGAGGGGGGATTGATGAGATTGCATAAATGCCCAGCCCAGGGCCTGCACTGCTCCAGAAGGTTGCTAGTAAGTGTGAGTCCCCTTCTCTTCCCCCTTGTGTGGTTGGCTCAGAGCCTCTGATTGTAGCAGAGGGATATAGGGCTGCCTGGAAGGGGCTCCAATCCCCCTCCCTGCTCACCTGGGCTGAGACTCTCTCTCGCCCATAGGGGGACCATGTGTGGATGGACCTGAGATTGGGGCAGGAGTTCGACGTGCCCATCGGGGCGGTGGTGAAGCTCTGCGACTCTGGGCAGGTCCAGGTGGTGGATGATGAAGACAATGTGAGTAGTCCCCTCCCTCCTCCTGCCCCATGCCTTGGGGTCAGACCTGGGCTGACAGCTGCCTTGATGCAGGGAGATGATCGAAAGGAGATGGAGGCCATGCCCATGCCCCCACTTCTGCCTCTCAGATGCCCCCTTCCATGAGCTTTCCCCAGCACCCCAACAAGAGGGAACCCCTGCCTGCCTCAGGCTACTTGTTCTGTTTCCACAAGCACTTCAGTCCACTCTGCATGGTGTTAGAGATGTGTGTGTGTGTGGTGGGGTTTGAGTGCAGGGGGAGCAGGCTAGGAGCTCCTCAGACACAGAGGTGCTTTGGGGGCAGACTGCATTCAAATCCTATCTCGTCCATTTGTTAGCTGCGCAAACTTGGCCTAGTCTCCTTCCCTCCTGACCCTCAGTTTCCTCTTTGTAAAATGAGGATAATAATACGTATCTCACAGGGCTGTTGACCCATACATGAGATCACACGTGCAGAACACCTCAGTGAAGTTAGTGCTAGTCTGAAAGTTAAATGAACGTCCACAGCCTCACTGTGTTGGGTTACTGACATCACATGAATCCACTGTCCACCTTGACACTGCTCTGGAAATTGGTCTCACAGATTAACCCTTTATCTGTGGCCCAGAAGGAAAGGGACCCCAGAAGTGTAAGTTTTCTAGGTAATGATAGTGGGGCCTTGGGGAGGGAAGGAGAGGTCTGAAGTCAGGGGCCTGCCCCGGAGAAGGTGGCTGGTTCACGTGAGGGCCCGGAGGGGAAGCCCTGGGGCCTCTGAGCATGCGTGCACATGTGTGTGTCACTGGGGGTATGCAGATGGGGTGCAGAGCACACAGGGGCAGCTTAGCAGGGATATGAAGAATCCAGGGAGATTCAGCTCTGCCATAATGTGGGCTGTGCCCTGCGGTGTGCCAGGGGCTGGGACACAGAATTGGACTGAGTCCCTCTTAGCCTCCTGGTCTGAGGGAGGAGAGTCAGGAGAAAGAGGGTGCAGGGACTTGAAACTGAGGCTCTGCTGGGGACGACGGGAGGGCTCAGGACCCTCGAGGCCAGGTGCTTGACAAGGAGTGGGCAGGAGCATCCCAGATATTCCTGCAGCCCTCAGGTGCATCCCCTCAGAGTTTGCAAGACCCTTTAACCCAAGTTCTGTCTTTGGACTCTCATGGCATCTGTGGAAGGCAGGGAGGGAAAGAATTGTCATCCCATGAGGAAACTGAGGCACATAGAGGGACCACACAGCCAGTCACACAGCTAGTAAGTGATGGTGCTGGGATTAGAACCCAGGACCTCTGTCTTCTATGCATGAGTTTCCCCTGTCAGCATTATCTCAGCGGCGACTTTGGAGCTCAGATTCTGCTAATCACATTTTTGGCCCTTGGGCCGTAGAACCCAAGGCCTGCAATATCATTCCAGAGGCTCCAGTTCTAGGACCCTCTAGGAACCTACTATGAGGGTGCAGCCACAGAAGGGGAGGCACAGGCTGGGTGGCAGCATAGACGGGCCTGCTAACCTGCCCAGAGCCCCCAGGGTGGGGACCAGGGACTCTGTCTGCAGGCTTGAGTTTCACCTGGGTCATGTTGCATGTCAGATGGTGTCCCGTAACTGCGTCACCGAATCCCAAAGGTCCCCTCCCGCTTCTCCTCCACCCAGGCCCTGAGAGTGGGGGCTGCAGGAGGGGTGGGCATGACTGGCTGGCAGGGGCAGTTCGGGAGGCTGGGGTTTGCATCTGTGGCATTGGACCCCCAGGGCTTCCAGACCGCTCCTTCACAAGCCTTTCCCACCCCCATTCCATCCCCTCCCTCCCAACTCCAGGCTGTCATCTCTTACCCCTCTGTCTGCCCACAGACTCCTAGCAACTTGAGAGCAGGGAACAGGCCAGTCCCATCTGGTTCCCCAGAGTTCATCAAGGGGTCTGCCCAGGGAAGGCTCTTGGCAAAGACT
|
CTGTCAGGGGTAAGCCCAGGGTCAGGGAGTGCAGCTGGGGCTTGGACACAAGCAGCTGTGAGGATTATATGGGGCAGTTTACGGGATGCAGCCTGTGGAGCCCAGGCCCACAGTGAATGCTCAGTAAACAGTTCTCTTCCACGCCCAAGCCTCTCCAATTTTTCTTACTTTTTCTGGGAGGAAGTTTGGGTTTGGGACTAGCCTGACTCTATCATGTGCCAACCTCCCATTCACATGAAGAGAGGGTCCACAGGGGCAGCTGTGGCTGGAAAATAGCACATAGATGGCAGTGGTCCCATAAGACTATAATGCCATATTTTACTGTACCTTTTATGTGTATGTTTAGATATGTTTACATACACAAATACACACTATGGATTATGACTGCCTATAGTATTCAGTACAGTAGCAGGTTGTACAGGTTTGTAGTGTAGGAGCAAGAGGCTACCCCATCCAGCCTAGGTGTGTAGTGGGCTGTACCATCTAGGTTTGTGAAGTACACTCGATGACTTCATATGTTTGCATAGAACTTATCTCTGACATTAACAATGCATGACTGTAGCTGGTTCTGATGGGAACAAGAGGAGGCTGAAACAGTAATGAGTTGGTCTTGGACTCACTGAGTTCAGCCTTCACTGAGAAATGTGGAAATTGAGGCTCAGAGAGGTCAGCGACTCACCCAAGGCCGGGTAGGGCCTGAAACCCAGTCTTCTGACTCCTAGCCCAGAACAGATTCTGTCAGACCATTACCACGGTTTACTTCATTGTGAATCAGTTTTATAAGTTGTTACATTTTTTTTTACTTGATATTAAGTTATATTCTTATTAGAATGTCCCAACTCCTAGGGAGTTGGAGTACCACCCAAAAAAGAATACTTTTATTAGGATTAGAATAAAATCTAAGCTTGTATCCCAAGGCCAGCAAAGGGCCTATGTGTCCTGGACCCTGCCTACTTCTCTGAGCTCCCTCTCGCCCATCAGGTCCTACCTCCTGGCTGTTCCTTTCTGCCGCAGGGCCTTTGCATGTGCTGTTTCCTATGCTGGGATTACTGTCCCCTGCTTTTCCCTTGGCTGACTGCTTGTCACCCTTCAGGTGTCAGCTCAGCGATTCCCTCCATGGAGCGGCTCCATTGGCTACTGGGTCTAGGTTGGTTGGCTCTGTCATTCTCCACCATTGGCTTGTTTGTTTCCTTGACAGCACTCACCAGTATCCAAAGTGATCGTGCTGATCTATTTGCTCAGTTTTTTGTCACCACCTCTAACTAGAACGTAGACTCCATAATCACTGCTCAACCCCCAGCATTTAGATTAATCAGTGCTTTGCACTCAGTAGGTAATCAATACATGTTTGTTGAATCCATCAGTGCTGAATGTGGTTGTTCTTAGTCCATTTCTCTGACTTGGGATTTTACGTTTGGCTCTCACGATCCCTTGCTGAATGAGTAGTGCGAGTCAGGCCCTGGGCCAGATGCCGCAGGGGACACAAAGCGACATCCTCCCCCAGGATCAGGGCTCTCTCCACATGCCAGAAGACAATGTGGCTGAACCCTTCTCTAGTGCCCAGCACGGAGTGGTGTCCCTGTGAGGAACCTGTCATAATGATGATAAAAATCAGCCCTGGAGGTGAAGGAGGCTGCAGCATTCACCCACTGTCTGGGTGTCCTGTGGTGTCATGTTAGAGAGGAAGTGGTTTGAGTGGTCTGGTGTTTCTGTCTAGACCCCAGTGAATCTGTCATACACATGTAGGGTGTAGATCCATGGGGAGAGCTGGGCTTTGAGAGGCCTTGGCTCTCTCTGAGCCTCTGCTAAGTCATCCATAAAATGGGAATATGGCTGTTCTAGAGGGGGGATTGATGAGATTGCATAAATGCCCAGCCCAGGGCCTGCACTGCTCCAGAAGGTTGCTAGTAAGTGTGAGTCCCCTTCTCTTCCCCCTTGTGTGGTTGGCTCAGAGCCTCTGATTGTAGCAGAGGGATATAGGGCTGCCTGGAAGGGGCTCCAATCCCCCTCCCTGCTCACCTGGGCTGAGACTCTCTCTCGCCCATAGGTGGACCATGTGTGGATGGACCTGAGATTGGGGCAGGAGTTCGACGTGCCCATCGGGGCGGTGGTGAAGCTCTGCGACTCTGGGCAGGTCCAGGTGGTGGATGATGAAGACAATGTGAGTAGTCCCCTCCCTCCTCCTGCCCCATGCCTTGGGGTCAGACCTGGGCTGACAGCTGCCTTGATGCAGGGAGATGATCGAAAGGAGATGGAGGCCATGCCCATGCCCCCACTTCTGCCTCTCAGATGCCCCCTTCCATGAGCTTTCCCCAGCACCCCAACAAGAGGGAACCCCTGCCTGCCTCAGGCTACTTGTTCTGTTTCCACAAGCACTTCAGTCCACTCTGCATGGTGTTAGAGATGTGTGTGTGTGTGGTGGGGTTTGAGTGCAGGGGGAGCAGGCTAGGAGCTCCTCAGACACAGAGGTGCTTTGGGGGCAGACTGCATTCAAATCCTATCTCGTCCATTTGTTAGCTGCGCAAACTTGGCCTAGTCTCCTTCCCTCCTGACCCTCAGTTTCCTCTTTGTAAAATGAGGATAATAATACGTATCTCACAGGGCTGTTGACCCATACATGAGATCACACGTGCAGAACACCTCAGTGAAGTTAGTGCTAGTCTGAAAGTTAAATGAACGTCCACAGCCTCACTGTGTTGGGTTACTGACATCACATGAATCCACTGTCCACCTTGACACTGCTCTGGAAATTGGTCTCACAGATTAACCCTTTATCTGTGGCCCAGAAGGAAAGGGACCCCAGAAGTGTAAGTTTTCTAGGTAATGATAGTGGGGCCTTGGGGAGGGAAGGAGAGGTCTGAAGTCAGGGGCCTGCCCCGGAGAAGGTGGCTGGTTCACGTGAGGGCCCGGAGGGGAAGCCCTGGGGCCTCTGAGCATGCGTGCACATGTGTGTGTCACTGGGGGTATGCAGATGGGGTGCAGAGCACACAGGGGCAGCTTAGCAGGGATATGAAGAATCCAGGGAGATTCAGCTCTGCCATAATGTGGGCTGTGCCCTGCGGTGTGCCAGGGGCTGGGACACAGAATTGGACTGAGTCCCTCTTAGCCTCCTGGTCTGAGGGAGGAGAGTCAGGAGAAAGAGGGTGCAGGGACTTGAAACTGAGGCTCTGCTGGGGACGACGGGAGGGCTCAGGACCCTCGAGGCCAGGTGCTTGACAAGGAGTGGGCAGGAGCATCCCAGATATTCCTGCAGCCCTCAGGTGCATCCCCTCAGAGTTTGCAAGACCCTTTAACCCAAGTTCTGTCTTTGGACTCTCATGGCATCTGTGGAAGGCAGGGAGGGAAAGAATTGTCATCCCATGAGGAAACTGAGGCACATAGAGGGACCACACAGCCAGTCACACAGCTAGTAAGTGATGGTGCTGGGATTAGAACCCAGGACCTCTGTCTTCTATGCATGAGTTTCCCCTGTCAGCATTATCTCAGCGGCGACTTTGGAGCTCAGATTCTGCTAATCACATTTTTGGCCCTTGGGCCGTAGAACCCAAGGCCTGCAATATCATTCCAGAGGCTCCAGTTCTAGGACCCTCTAGGAACCTACTATGAGGGTGCAGCCACAGAAGGGGAGGCACAGGCTGGGTGGCAGCATAGACGGGCCTGCTAACCTGCCCAGAGCCCCCAGGGTGGGGACCAGGGACTCTGTCTGCAGGCTTGAGTTTCACCTGGGTCATGTTGCATGTCAGATGGTGTCCCGTAACTGCGTCACCGAATCCCAAAGGTCCCCTCCCGCTTCTCCTCCACCCAGGCCCTGAGAGTGGGGGCTGCAGGAGGGGTGGGCATGACTGGCTGGCAGGGGCAGTTCGGGAGGCTGGGGTTTGCATCTGTGGCATTGGACCCCCAGGGCTTCCAGACCGCTCCTTCACAAGCCTTTCCCACCCCCATTCCATCCCCTCCCTCCCAACTCCAGGCTGTCATCTCTTACCCCTCTGTCTGCCCACAGACTCCTAGCAACTTGAGAGCAGGGAACAGGCCAGTCCCATCTGGTTCCCCAGAGTTCATCAAGGGGTCTGCCCAGGGAAGGCTCTTGGCAAAGACT
|
Task1_train_16301
|
Here is a variant affecting MYO7A (myosin VIIA) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder.
|
Pathogenic; Autosomal dominant nonsyndromic hearing loss 11
|
CTGTCAGGGGTAAGCCCAGGGTCAGGGAGTGCAGCTGGGGCTTGGACACAAGCAGCTGTGAGGATTATATGGGGCAGTTTACGGGATGCAGCCTGTGGAGCCCAGGCCCACAGTGAATGCTCAGTAAACAGTTCTCTTCCACGCCCAAGCCTCTCCAATTTTTCTTACTTTTTCTGGGAGGAAGTTTGGGTTTGGGACTAGCCTGACTCTATCATGTGCCAACCTCCCATTCACATGAAGAGAGGGTCCACAGGGGCAGCTGTGGCTGGAAAATAGCACATAGATGGCAGTGGTCCCATAAGACTATAATGCCATATTTTACTGTACCTTTTATGTGTATGTTTAGATATGTTTACATACACAAATACACACTATGGATTATGACTGCCTATAGTATTCAGTACAGTAGCAGGTTGTACAGGTTTGTAGTGTAGGAGCAAGAGGCTACCCCATCCAGCCTAGGTGTGTAGTGGGCTGTACCATCTAGGTTTGTGAAGTACACTCGATGACTTCATATGTTTGCATAGAACTTATCTCTGACATTAACAATGCATGACTGTAGCTGGTTCTGATGGGAACAAGAGGAGGCTGAAACAGTAATGAGTTGGTCTTGGACTCACTGAGTTCAGCCTTCACTGAGAAATGTGGAAATTGAGGCTCAGAGAGGTCAGCGACTCACCCAAGGCCGGGTAGGGCCTGAAACCCAGTCTTCTGACTCCTAGCCCAGAACAGATTCTGTCAGACCATTACCACGGTTTACTTCATTGTGAATCAGTTTTATAAGTTGTTACATTTTTTTTTACTTGATATTAAGTTATATTCTTATTAGAATGTCCCAACTCCTAGGGAGTTGGAGTACCACCCAAAAAAGAATACTTTTATTAGGATTAGAATAAAATCTAAGCTTGTATCCCAAGGCCAGCAAAGGGCCTATGTGTCCTGGACCCTGCCTACTTCTCTGAGCTCCCTCTCGCCCATCAGGTCCTACCTCCTGGCTGTTCCTTTCTGCCGCAGGGCCTTTGCATGTGCTGTTTCCTATGCTGGGATTACTGTCCCCTGCTTTTCCCTTGGCTGACTGCTTGTCACCCTTCAGGTGTCAGCTCAGCGATTCCCTCCATGGAGCGGCTCCATTGGCTACTGGGTCTAGGTTGGTTGGCTCTGTCATTCTCCACCATTGGCTTGTTTGTTTCCTTGACAGCACTCACCAGTATCCAAAGTGATCGTGCTGATCTATTTGCTCAGTTTTTTGTCACCACCTCTAACTAGAACGTAGACTCCATAATCACTGCTCAACCCCCAGCATTTAGATTAATCAGTGCTTTGCACTCAGTAGGTAATCAATACATGTTTGTTGAATCCATCAGTGCTGAATGTGGTTGTTCTTAGTCCATTTCTCTGACTTGGGATTTTACGTTTGGCTCTCACGATCCCTTGCTGAATGAGTAGTGCGAGTCAGGCCCTGGGCCAGATGCCGCAGGGGACACAAAGCGACATCCTCCCCCAGGATCAGGGCTCTCTCCACATGCCAGAAGACAATGTGGCTGAACCCTTCTCTAGTGCCCAGCACGGAGTGGTGTCCCTGTGAGGAACCTGTCATAATGATGATAAAAATCAGCCCTGGAGGTGAAGGAGGCTGCAGCATTCACCCACTGTCTGGGTGTCCTGTGGTGTCATGTTAGAGAGGAAGTGGTTTGAGTGGTCTGGTGTTTCTGTCTAGACCCCAGTGAATCTGTCATACACATGTAGGGTGTAGATCCATGGGGAGAGCTGGGCTTTGAGAGGCCTTGGCTCTCTCTGAGCCTCTGCTAAGTCATCCATAAAATGGGAATATGGCTGTTCTAGAGGGGGGATTGATGAGATTGCATAAATGCCCAGCCCAGGGCCTGCACTGCTCCAGAAGGTTGCTAGTAAGTGTGAGTCCCCTTCTCTTCCCCCTTGTGTGGTTGGCTCAGAGCCTCTGATTGTAGCAGAGGGATATAGGGCTGCCTGGAAGGGGCTCCAATCCCCCTCCCTGCTCACCTGGGCTGAGACTCTCTCTCGCCCATAGGGGGACCATGTGTGGATGGACCTGAGATTGGGGCAGGAGTTCGACGTGCCCATCGGGGCGGTGGTGAAGCTCTGCGACTCTGGGCAGGTCCAGGTGGTGGATGATGAAGACAATGTGAGTAGTCCCCTCCCTCCTCCTGCCCCATGCCTTGGGGTCAGACCTGGGCTGACAGCTGCCTTGATGCAGGGAGATGATCGAAAGGAGATGGAGGCCATGCCCATGCCCCCACTTCTGCCTCTCAGATGCCCCCTTCCATGAGCTTTCCCCAGCACCCCAACAAGAGGGAACCCCTGCCTGCCTCAGGCTACTTGTTCTGTTTCCACAAGCACTTCAGTCCACTCTGCATGGTGTTAGAGATGTGTGTGTGTGTGGTGGGGTTTGAGTGCAGGGGGAGCAGGCTAGGAGCTCCTCAGACACAGAGGTGCTTTGGGGGCAGACTGCATTCAAATCCTATCTCGTCCATTTGTTAGCTGCGCAAACTTGGCCTAGTCTCCTTCCCTCCTGACCCTCAGTTTCCTCTTTGTAAAATGAGGATAATAATACGTATCTCACAGGGCTGTTGACCCATACATGAGATCACACGTGCAGAACACCTCAGTGAAGTTAGTGCTAGTCTGAAAGTTAAATGAACGTCCACAGCCTCACTGTGTTGGGTTACTGACATCACATGAATCCACTGTCCACCTTGACACTGCTCTGGAAATTGGTCTCACAGATTAACCCTTTATCTGTGGCCCAGAAGGAAAGGGACCCCAGAAGTGTAAGTTTTCTAGGTAATGATAGTGGGGCCTTGGGGAGGGAAGGAGAGGTCTGAAGTCAGGGGCCTGCCCCGGAGAAGGTGGCTGGTTCACGTGAGGGCCCGGAGGGGAAGCCCTGGGGCCTCTGAGCATGCGTGCACATGTGTGTGTCACTGGGGGTATGCAGATGGGGTGCAGAGCACACAGGGGCAGCTTAGCAGGGATATGAAGAATCCAGGGAGATTCAGCTCTGCCATAATGTGGGCTGTGCCCTGCGGTGTGCCAGGGGCTGGGACACAGAATTGGACTGAGTCCCTCTTAGCCTCCTGGTCTGAGGGAGGAGAGTCAGGAGAAAGAGGGTGCAGGGACTTGAAACTGAGGCTCTGCTGGGGACGACGGGAGGGCTCAGGACCCTCGAGGCCAGGTGCTTGACAAGGAGTGGGCAGGAGCATCCCAGATATTCCTGCAGCCCTCAGGTGCATCCCCTCAGAGTTTGCAAGACCCTTTAACCCAAGTTCTGTCTTTGGACTCTCATGGCATCTGTGGAAGGCAGGGAGGGAAAGAATTGTCATCCCATGAGGAAACTGAGGCACATAGAGGGACCACACAGCCAGTCACACAGCTAGTAAGTGATGGTGCTGGGATTAGAACCCAGGACCTCTGTCTTCTATGCATGAGTTTCCCCTGTCAGCATTATCTCAGCGGCGACTTTGGAGCTCAGATTCTGCTAATCACATTTTTGGCCCTTGGGCCGTAGAACCCAAGGCCTGCAATATCATTCCAGAGGCTCCAGTTCTAGGACCCTCTAGGAACCTACTATGAGGGTGCAGCCACAGAAGGGGAGGCACAGGCTGGGTGGCAGCATAGACGGGCCTGCTAACCTGCCCAGAGCCCCCAGGGTGGGGACCAGGGACTCTGTCTGCAGGCTTGAGTTTCACCTGGGTCATGTTGCATGTCAGATGGTGTCCCGTAACTGCGTCACCGAATCCCAAAGGTCCCCTCCCGCTTCTCCTCCACCCAGGCCCTGAGAGTGGGGGCTGCAGGAGGGGTGGGCATGACTGGCTGGCAGGGGCAGTTCGGGAGGCTGGGGTTTGCATCTGTGGCATTGGACCCCCAGGGCTTCCAGACCGCTCCTTCACAAGCCTTTCCCACCCCCATTCCATCCCCTCCCTCCCAACTCCAGGCTGTCATCTCTTACCCCTCTGTCTGCCCACAGACTCCTAGCAACTTGAGAGCAGGGAACAGGCCAGTCCCATCTGGTTCCCCAGAGTTCATCAAGGGGTCTGCCCAGGGAAGGCTCTTGGCAAAGACT
|
CTGTCAGGGGTAAGCCCAGGGTCAGGGAGTGCAGCTGGGGCTTGGACACAAGCAGCTGTGAGGATTATATGGGGCAGTTTACGGGATGCAGCCTGTGGAGCCCAGGCCCACAGTGAATGCTCAGTAAACAGTTCTCTTCCACGCCCAAGCCTCTCCAATTTTTCTTACTTTTTCTGGGAGGAAGTTTGGGTTTGGGACTAGCCTGACTCTATCATGTGCCAACCTCCCATTCACATGAAGAGAGGGTCCACAGGGGCAGCTGTGGCTGGAAAATAGCACATAGATGGCAGTGGTCCCATAAGACTATAATGCCATATTTTACTGTACCTTTTATGTGTATGTTTAGATATGTTTACATACACAAATACACACTATGGATTATGACTGCCTATAGTATTCAGTACAGTAGCAGGTTGTACAGGTTTGTAGTGTAGGAGCAAGAGGCTACCCCATCCAGCCTAGGTGTGTAGTGGGCTGTACCATCTAGGTTTGTGAAGTACACTCGATGACTTCATATGTTTGCATAGAACTTATCTCTGACATTAACAATGCATGACTGTAGCTGGTTCTGATGGGAACAAGAGGAGGCTGAAACAGTAATGAGTTGGTCTTGGACTCACTGAGTTCAGCCTTCACTGAGAAATGTGGAAATTGAGGCTCAGAGAGGTCAGCGACTCACCCAAGGCCGGGTAGGGCCTGAAACCCAGTCTTCTGACTCCTAGCCCAGAACAGATTCTGTCAGACCATTACCACGGTTTACTTCATTGTGAATCAGTTTTATAAGTTGTTACATTTTTTTTTACTTGATATTAAGTTATATTCTTATTAGAATGTCCCAACTCCTAGGGAGTTGGAGTACCACCCAAAAAAGAATACTTTTATTAGGATTAGAATAAAATCTAAGCTTGTATCCCAAGGCCAGCAAAGGGCCTATGTGTCCTGGACCCTGCCTACTTCTCTGAGCTCCCTCTCGCCCATCAGGTCCTACCTCCTGGCTGTTCCTTTCTGCCGCAGGGCCTTTGCATGTGCTGTTTCCTATGCTGGGATTACTGTCCCCTGCTTTTCCCTTGGCTGACTGCTTGTCACCCTTCAGGTGTCAGCTCAGCGATTCCCTCCATGGAGCGGCTCCATTGGCTACTGGGTCTAGGTTGGTTGGCTCTGTCATTCTCCACCATTGGCTTGTTTGTTTCCTTGACAGCACTCACCAGTATCCAAAGTGATCGTGCTGATCTATTTGCTCAGTTTTTTGTCACCACCTCTAACTAGAACGTAGACTCCATAATCACTGCTCAACCCCCAGCATTTAGATTAATCAGTGCTTTGCACTCAGTAGGTAATCAATACATGTTTGTTGAATCCATCAGTGCTGAATGTGGTTGTTCTTAGTCCATTTCTCTGACTTGGGATTTTACGTTTGGCTCTCACGATCCCTTGCTGAATGAGTAGTGCGAGTCAGGCCCTGGGCCAGATGCCGCAGGGGACACAAAGCGACATCCTCCCCCAGGATCAGGGCTCTCTCCACATGCCAGAAGACAATGTGGCTGAACCCTTCTCTAGTGCCCAGCACGGAGTGGTGTCCCTGTGAGGAACCTGTCATAATGATGATAAAAATCAGCCCTGGAGGTGAAGGAGGCTGCAGCATTCACCCACTGTCTGGGTGTCCTGTGGTGTCATGTTAGAGAGGAAGTGGTTTGAGTGGTCTGGTGTTTCTGTCTAGACCCCAGTGAATCTGTCATACACATGTAGGGTGTAGATCCATGGGGAGAGCTGGGCTTTGAGAGGCCTTGGCTCTCTCTGAGCCTCTGCTAAGTCATCCATAAAATGGGAATATGGCTGTTCTAGAGGGGGGATTGATGAGATTGCATAAATGCCCAGCCCAGGGCCTGCACTGCTCCAGAAGGTTGCTAGTAAGTGTGAGTCCCCTTCTCTTCCCCCTTGTGTGGTTGGCTCAGAGCCTCTGATTGTAGCAGAGGGATATAGGGCTGCCTGGAAGGGGCTCCAATCCCCCTCCCTGCTCACCTGGGCTGAGACTCTCTCTCGCCCATAGGTGGACCATGTGTGGATGGACCTGAGATTGGGGCAGGAGTTCGACGTGCCCATCGGGGCGGTGGTGAAGCTCTGCGACTCTGGGCAGGTCCAGGTGGTGGATGATGAAGACAATGTGAGTAGTCCCCTCCCTCCTCCTGCCCCATGCCTTGGGGTCAGACCTGGGCTGACAGCTGCCTTGATGCAGGGAGATGATCGAAAGGAGATGGAGGCCATGCCCATGCCCCCACTTCTGCCTCTCAGATGCCCCCTTCCATGAGCTTTCCCCAGCACCCCAACAAGAGGGAACCCCTGCCTGCCTCAGGCTACTTGTTCTGTTTCCACAAGCACTTCAGTCCACTCTGCATGGTGTTAGAGATGTGTGTGTGTGTGGTGGGGTTTGAGTGCAGGGGGAGCAGGCTAGGAGCTCCTCAGACACAGAGGTGCTTTGGGGGCAGACTGCATTCAAATCCTATCTCGTCCATTTGTTAGCTGCGCAAACTTGGCCTAGTCTCCTTCCCTCCTGACCCTCAGTTTCCTCTTTGTAAAATGAGGATAATAATACGTATCTCACAGGGCTGTTGACCCATACATGAGATCACACGTGCAGAACACCTCAGTGAAGTTAGTGCTAGTCTGAAAGTTAAATGAACGTCCACAGCCTCACTGTGTTGGGTTACTGACATCACATGAATCCACTGTCCACCTTGACACTGCTCTGGAAATTGGTCTCACAGATTAACCCTTTATCTGTGGCCCAGAAGGAAAGGGACCCCAGAAGTGTAAGTTTTCTAGGTAATGATAGTGGGGCCTTGGGGAGGGAAGGAGAGGTCTGAAGTCAGGGGCCTGCCCCGGAGAAGGTGGCTGGTTCACGTGAGGGCCCGGAGGGGAAGCCCTGGGGCCTCTGAGCATGCGTGCACATGTGTGTGTCACTGGGGGTATGCAGATGGGGTGCAGAGCACACAGGGGCAGCTTAGCAGGGATATGAAGAATCCAGGGAGATTCAGCTCTGCCATAATGTGGGCTGTGCCCTGCGGTGTGCCAGGGGCTGGGACACAGAATTGGACTGAGTCCCTCTTAGCCTCCTGGTCTGAGGGAGGAGAGTCAGGAGAAAGAGGGTGCAGGGACTTGAAACTGAGGCTCTGCTGGGGACGACGGGAGGGCTCAGGACCCTCGAGGCCAGGTGCTTGACAAGGAGTGGGCAGGAGCATCCCAGATATTCCTGCAGCCCTCAGGTGCATCCCCTCAGAGTTTGCAAGACCCTTTAACCCAAGTTCTGTCTTTGGACTCTCATGGCATCTGTGGAAGGCAGGGAGGGAAAGAATTGTCATCCCATGAGGAAACTGAGGCACATAGAGGGACCACACAGCCAGTCACACAGCTAGTAAGTGATGGTGCTGGGATTAGAACCCAGGACCTCTGTCTTCTATGCATGAGTTTCCCCTGTCAGCATTATCTCAGCGGCGACTTTGGAGCTCAGATTCTGCTAATCACATTTTTGGCCCTTGGGCCGTAGAACCCAAGGCCTGCAATATCATTCCAGAGGCTCCAGTTCTAGGACCCTCTAGGAACCTACTATGAGGGTGCAGCCACAGAAGGGGAGGCACAGGCTGGGTGGCAGCATAGACGGGCCTGCTAACCTGCCCAGAGCCCCCAGGGTGGGGACCAGGGACTCTGTCTGCAGGCTTGAGTTTCACCTGGGTCATGTTGCATGTCAGATGGTGTCCCGTAACTGCGTCACCGAATCCCAAAGGTCCCCTCCCGCTTCTCCTCCACCCAGGCCCTGAGAGTGGGGGCTGCAGGAGGGGTGGGCATGACTGGCTGGCAGGGGCAGTTCGGGAGGCTGGGGTTTGCATCTGTGGCATTGGACCCCCAGGGCTTCCAGACCGCTCCTTCACAAGCCTTTCCCACCCCCATTCCATCCCCTCCCTCCCAACTCCAGGCTGTCATCTCTTACCCCTCTGTCTGCCCACAGACTCCTAGCAACTTGAGAGCAGGGAACAGGCCAGTCCCATCTGGTTCCCCAGAGTTCATCAAGGGGTCTGCCCAGGGAAGGCTCTTGGCAAAGACT
|
Task1_train_16302
|
This sequence variant lies in MYO7A (myosin VIIA) on Chromosome 11. Is it clinically significant, and what condition might it cause if any?
|
Pathogenic; not specified
|
CTGTCAGGGGTAAGCCCAGGGTCAGGGAGTGCAGCTGGGGCTTGGACACAAGCAGCTGTGAGGATTATATGGGGCAGTTTACGGGATGCAGCCTGTGGAGCCCAGGCCCACAGTGAATGCTCAGTAAACAGTTCTCTTCCACGCCCAAGCCTCTCCAATTTTTCTTACTTTTTCTGGGAGGAAGTTTGGGTTTGGGACTAGCCTGACTCTATCATGTGCCAACCTCCCATTCACATGAAGAGAGGGTCCACAGGGGCAGCTGTGGCTGGAAAATAGCACATAGATGGCAGTGGTCCCATAAGACTATAATGCCATATTTTACTGTACCTTTTATGTGTATGTTTAGATATGTTTACATACACAAATACACACTATGGATTATGACTGCCTATAGTATTCAGTACAGTAGCAGGTTGTACAGGTTTGTAGTGTAGGAGCAAGAGGCTACCCCATCCAGCCTAGGTGTGTAGTGGGCTGTACCATCTAGGTTTGTGAAGTACACTCGATGACTTCATATGTTTGCATAGAACTTATCTCTGACATTAACAATGCATGACTGTAGCTGGTTCTGATGGGAACAAGAGGAGGCTGAAACAGTAATGAGTTGGTCTTGGACTCACTGAGTTCAGCCTTCACTGAGAAATGTGGAAATTGAGGCTCAGAGAGGTCAGCGACTCACCCAAGGCCGGGTAGGGCCTGAAACCCAGTCTTCTGACTCCTAGCCCAGAACAGATTCTGTCAGACCATTACCACGGTTTACTTCATTGTGAATCAGTTTTATAAGTTGTTACATTTTTTTTTACTTGATATTAAGTTATATTCTTATTAGAATGTCCCAACTCCTAGGGAGTTGGAGTACCACCCAAAAAAGAATACTTTTATTAGGATTAGAATAAAATCTAAGCTTGTATCCCAAGGCCAGCAAAGGGCCTATGTGTCCTGGACCCTGCCTACTTCTCTGAGCTCCCTCTCGCCCATCAGGTCCTACCTCCTGGCTGTTCCTTTCTGCCGCAGGGCCTTTGCATGTGCTGTTTCCTATGCTGGGATTACTGTCCCCTGCTTTTCCCTTGGCTGACTGCTTGTCACCCTTCAGGTGTCAGCTCAGCGATTCCCTCCATGGAGCGGCTCCATTGGCTACTGGGTCTAGGTTGGTTGGCTCTGTCATTCTCCACCATTGGCTTGTTTGTTTCCTTGACAGCACTCACCAGTATCCAAAGTGATCGTGCTGATCTATTTGCTCAGTTTTTTGTCACCACCTCTAACTAGAACGTAGACTCCATAATCACTGCTCAACCCCCAGCATTTAGATTAATCAGTGCTTTGCACTCAGTAGGTAATCAATACATGTTTGTTGAATCCATCAGTGCTGAATGTGGTTGTTCTTAGTCCATTTCTCTGACTTGGGATTTTACGTTTGGCTCTCACGATCCCTTGCTGAATGAGTAGTGCGAGTCAGGCCCTGGGCCAGATGCCGCAGGGGACACAAAGCGACATCCTCCCCCAGGATCAGGGCTCTCTCCACATGCCAGAAGACAATGTGGCTGAACCCTTCTCTAGTGCCCAGCACGGAGTGGTGTCCCTGTGAGGAACCTGTCATAATGATGATAAAAATCAGCCCTGGAGGTGAAGGAGGCTGCAGCATTCACCCACTGTCTGGGTGTCCTGTGGTGTCATGTTAGAGAGGAAGTGGTTTGAGTGGTCTGGTGTTTCTGTCTAGACCCCAGTGAATCTGTCATACACATGTAGGGTGTAGATCCATGGGGAGAGCTGGGCTTTGAGAGGCCTTGGCTCTCTCTGAGCCTCTGCTAAGTCATCCATAAAATGGGAATATGGCTGTTCTAGAGGGGGGATTGATGAGATTGCATAAATGCCCAGCCCAGGGCCTGCACTGCTCCAGAAGGTTGCTAGTAAGTGTGAGTCCCCTTCTCTTCCCCCTTGTGTGGTTGGCTCAGAGCCTCTGATTGTAGCAGAGGGATATAGGGCTGCCTGGAAGGGGCTCCAATCCCCCTCCCTGCTCACCTGGGCTGAGACTCTCTCTCGCCCATAGGGGGACCATGTGTGGATGGACCTGAGATTGGGGCAGGAGTTCGACGTGCCCATCGGGGCGGTGGTGAAGCTCTGCGACTCTGGGCAGGTCCAGGTGGTGGATGATGAAGACAATGTGAGTAGTCCCCTCCCTCCTCCTGCCCCATGCCTTGGGGTCAGACCTGGGCTGACAGCTGCCTTGATGCAGGGAGATGATCGAAAGGAGATGGAGGCCATGCCCATGCCCCCACTTCTGCCTCTCAGATGCCCCCTTCCATGAGCTTTCCCCAGCACCCCAACAAGAGGGAACCCCTGCCTGCCTCAGGCTACTTGTTCTGTTTCCACAAGCACTTCAGTCCACTCTGCATGGTGTTAGAGATGTGTGTGTGTGTGGTGGGGTTTGAGTGCAGGGGGAGCAGGCTAGGAGCTCCTCAGACACAGAGGTGCTTTGGGGGCAGACTGCATTCAAATCCTATCTCGTCCATTTGTTAGCTGCGCAAACTTGGCCTAGTCTCCTTCCCTCCTGACCCTCAGTTTCCTCTTTGTAAAATGAGGATAATAATACGTATCTCACAGGGCTGTTGACCCATACATGAGATCACACGTGCAGAACACCTCAGTGAAGTTAGTGCTAGTCTGAAAGTTAAATGAACGTCCACAGCCTCACTGTGTTGGGTTACTGACATCACATGAATCCACTGTCCACCTTGACACTGCTCTGGAAATTGGTCTCACAGATTAACCCTTTATCTGTGGCCCAGAAGGAAAGGGACCCCAGAAGTGTAAGTTTTCTAGGTAATGATAGTGGGGCCTTGGGGAGGGAAGGAGAGGTCTGAAGTCAGGGGCCTGCCCCGGAGAAGGTGGCTGGTTCACGTGAGGGCCCGGAGGGGAAGCCCTGGGGCCTCTGAGCATGCGTGCACATGTGTGTGTCACTGGGGGTATGCAGATGGGGTGCAGAGCACACAGGGGCAGCTTAGCAGGGATATGAAGAATCCAGGGAGATTCAGCTCTGCCATAATGTGGGCTGTGCCCTGCGGTGTGCCAGGGGCTGGGACACAGAATTGGACTGAGTCCCTCTTAGCCTCCTGGTCTGAGGGAGGAGAGTCAGGAGAAAGAGGGTGCAGGGACTTGAAACTGAGGCTCTGCTGGGGACGACGGGAGGGCTCAGGACCCTCGAGGCCAGGTGCTTGACAAGGAGTGGGCAGGAGCATCCCAGATATTCCTGCAGCCCTCAGGTGCATCCCCTCAGAGTTTGCAAGACCCTTTAACCCAAGTTCTGTCTTTGGACTCTCATGGCATCTGTGGAAGGCAGGGAGGGAAAGAATTGTCATCCCATGAGGAAACTGAGGCACATAGAGGGACCACACAGCCAGTCACACAGCTAGTAAGTGATGGTGCTGGGATTAGAACCCAGGACCTCTGTCTTCTATGCATGAGTTTCCCCTGTCAGCATTATCTCAGCGGCGACTTTGGAGCTCAGATTCTGCTAATCACATTTTTGGCCCTTGGGCCGTAGAACCCAAGGCCTGCAATATCATTCCAGAGGCTCCAGTTCTAGGACCCTCTAGGAACCTACTATGAGGGTGCAGCCACAGAAGGGGAGGCACAGGCTGGGTGGCAGCATAGACGGGCCTGCTAACCTGCCCAGAGCCCCCAGGGTGGGGACCAGGGACTCTGTCTGCAGGCTTGAGTTTCACCTGGGTCATGTTGCATGTCAGATGGTGTCCCGTAACTGCGTCACCGAATCCCAAAGGTCCCCTCCCGCTTCTCCTCCACCCAGGCCCTGAGAGTGGGGGCTGCAGGAGGGGTGGGCATGACTGGCTGGCAGGGGCAGTTCGGGAGGCTGGGGTTTGCATCTGTGGCATTGGACCCCCAGGGCTTCCAGACCGCTCCTTCACAAGCCTTTCCCACCCCCATTCCATCCCCTCCCTCCCAACTCCAGGCTGTCATCTCTTACCCCTCTGTCTGCCCACAGACTCCTAGCAACTTGAGAGCAGGGAACAGGCCAGTCCCATCTGGTTCCCCAGAGTTCATCAAGGGGTCTGCCCAGGGAAGGCTCTTGGCAAAGACT
|
CTGTCAGGGGTAAGCCCAGGGTCAGGGAGTGCAGCTGGGGCTTGGACACAAGCAGCTGTGAGGATTATATGGGGCAGTTTACGGGATGCAGCCTGTGGAGCCCAGGCCCACAGTGAATGCTCAGTAAACAGTTCTCTTCCACGCCCAAGCCTCTCCAATTTTTCTTACTTTTTCTGGGAGGAAGTTTGGGTTTGGGACTAGCCTGACTCTATCATGTGCCAACCTCCCATTCACATGAAGAGAGGGTCCACAGGGGCAGCTGTGGCTGGAAAATAGCACATAGATGGCAGTGGTCCCATAAGACTATAATGCCATATTTTACTGTACCTTTTATGTGTATGTTTAGATATGTTTACATACACAAATACACACTATGGATTATGACTGCCTATAGTATTCAGTACAGTAGCAGGTTGTACAGGTTTGTAGTGTAGGAGCAAGAGGCTACCCCATCCAGCCTAGGTGTGTAGTGGGCTGTACCATCTAGGTTTGTGAAGTACACTCGATGACTTCATATGTTTGCATAGAACTTATCTCTGACATTAACAATGCATGACTGTAGCTGGTTCTGATGGGAACAAGAGGAGGCTGAAACAGTAATGAGTTGGTCTTGGACTCACTGAGTTCAGCCTTCACTGAGAAATGTGGAAATTGAGGCTCAGAGAGGTCAGCGACTCACCCAAGGCCGGGTAGGGCCTGAAACCCAGTCTTCTGACTCCTAGCCCAGAACAGATTCTGTCAGACCATTACCACGGTTTACTTCATTGTGAATCAGTTTTATAAGTTGTTACATTTTTTTTTACTTGATATTAAGTTATATTCTTATTAGAATGTCCCAACTCCTAGGGAGTTGGAGTACCACCCAAAAAAGAATACTTTTATTAGGATTAGAATAAAATCTAAGCTTGTATCCCAAGGCCAGCAAAGGGCCTATGTGTCCTGGACCCTGCCTACTTCTCTGAGCTCCCTCTCGCCCATCAGGTCCTACCTCCTGGCTGTTCCTTTCTGCCGCAGGGCCTTTGCATGTGCTGTTTCCTATGCTGGGATTACTGTCCCCTGCTTTTCCCTTGGCTGACTGCTTGTCACCCTTCAGGTGTCAGCTCAGCGATTCCCTCCATGGAGCGGCTCCATTGGCTACTGGGTCTAGGTTGGTTGGCTCTGTCATTCTCCACCATTGGCTTGTTTGTTTCCTTGACAGCACTCACCAGTATCCAAAGTGATCGTGCTGATCTATTTGCTCAGTTTTTTGTCACCACCTCTAACTAGAACGTAGACTCCATAATCACTGCTCAACCCCCAGCATTTAGATTAATCAGTGCTTTGCACTCAGTAGGTAATCAATACATGTTTGTTGAATCCATCAGTGCTGAATGTGGTTGTTCTTAGTCCATTTCTCTGACTTGGGATTTTACGTTTGGCTCTCACGATCCCTTGCTGAATGAGTAGTGCGAGTCAGGCCCTGGGCCAGATGCCGCAGGGGACACAAAGCGACATCCTCCCCCAGGATCAGGGCTCTCTCCACATGCCAGAAGACAATGTGGCTGAACCCTTCTCTAGTGCCCAGCACGGAGTGGTGTCCCTGTGAGGAACCTGTCATAATGATGATAAAAATCAGCCCTGGAGGTGAAGGAGGCTGCAGCATTCACCCACTGTCTGGGTGTCCTGTGGTGTCATGTTAGAGAGGAAGTGGTTTGAGTGGTCTGGTGTTTCTGTCTAGACCCCAGTGAATCTGTCATACACATGTAGGGTGTAGATCCATGGGGAGAGCTGGGCTTTGAGAGGCCTTGGCTCTCTCTGAGCCTCTGCTAAGTCATCCATAAAATGGGAATATGGCTGTTCTAGAGGGGGGATTGATGAGATTGCATAAATGCCCAGCCCAGGGCCTGCACTGCTCCAGAAGGTTGCTAGTAAGTGTGAGTCCCCTTCTCTTCCCCCTTGTGTGGTTGGCTCAGAGCCTCTGATTGTAGCAGAGGGATATAGGGCTGCCTGGAAGGGGCTCCAATCCCCCTCCCTGCTCACCTGGGCTGAGACTCTCTCTCGCCCATAGGTGGACCATGTGTGGATGGACCTGAGATTGGGGCAGGAGTTCGACGTGCCCATCGGGGCGGTGGTGAAGCTCTGCGACTCTGGGCAGGTCCAGGTGGTGGATGATGAAGACAATGTGAGTAGTCCCCTCCCTCCTCCTGCCCCATGCCTTGGGGTCAGACCTGGGCTGACAGCTGCCTTGATGCAGGGAGATGATCGAAAGGAGATGGAGGCCATGCCCATGCCCCCACTTCTGCCTCTCAGATGCCCCCTTCCATGAGCTTTCCCCAGCACCCCAACAAGAGGGAACCCCTGCCTGCCTCAGGCTACTTGTTCTGTTTCCACAAGCACTTCAGTCCACTCTGCATGGTGTTAGAGATGTGTGTGTGTGTGGTGGGGTTTGAGTGCAGGGGGAGCAGGCTAGGAGCTCCTCAGACACAGAGGTGCTTTGGGGGCAGACTGCATTCAAATCCTATCTCGTCCATTTGTTAGCTGCGCAAACTTGGCCTAGTCTCCTTCCCTCCTGACCCTCAGTTTCCTCTTTGTAAAATGAGGATAATAATACGTATCTCACAGGGCTGTTGACCCATACATGAGATCACACGTGCAGAACACCTCAGTGAAGTTAGTGCTAGTCTGAAAGTTAAATGAACGTCCACAGCCTCACTGTGTTGGGTTACTGACATCACATGAATCCACTGTCCACCTTGACACTGCTCTGGAAATTGGTCTCACAGATTAACCCTTTATCTGTGGCCCAGAAGGAAAGGGACCCCAGAAGTGTAAGTTTTCTAGGTAATGATAGTGGGGCCTTGGGGAGGGAAGGAGAGGTCTGAAGTCAGGGGCCTGCCCCGGAGAAGGTGGCTGGTTCACGTGAGGGCCCGGAGGGGAAGCCCTGGGGCCTCTGAGCATGCGTGCACATGTGTGTGTCACTGGGGGTATGCAGATGGGGTGCAGAGCACACAGGGGCAGCTTAGCAGGGATATGAAGAATCCAGGGAGATTCAGCTCTGCCATAATGTGGGCTGTGCCCTGCGGTGTGCCAGGGGCTGGGACACAGAATTGGACTGAGTCCCTCTTAGCCTCCTGGTCTGAGGGAGGAGAGTCAGGAGAAAGAGGGTGCAGGGACTTGAAACTGAGGCTCTGCTGGGGACGACGGGAGGGCTCAGGACCCTCGAGGCCAGGTGCTTGACAAGGAGTGGGCAGGAGCATCCCAGATATTCCTGCAGCCCTCAGGTGCATCCCCTCAGAGTTTGCAAGACCCTTTAACCCAAGTTCTGTCTTTGGACTCTCATGGCATCTGTGGAAGGCAGGGAGGGAAAGAATTGTCATCCCATGAGGAAACTGAGGCACATAGAGGGACCACACAGCCAGTCACACAGCTAGTAAGTGATGGTGCTGGGATTAGAACCCAGGACCTCTGTCTTCTATGCATGAGTTTCCCCTGTCAGCATTATCTCAGCGGCGACTTTGGAGCTCAGATTCTGCTAATCACATTTTTGGCCCTTGGGCCGTAGAACCCAAGGCCTGCAATATCATTCCAGAGGCTCCAGTTCTAGGACCCTCTAGGAACCTACTATGAGGGTGCAGCCACAGAAGGGGAGGCACAGGCTGGGTGGCAGCATAGACGGGCCTGCTAACCTGCCCAGAGCCCCCAGGGTGGGGACCAGGGACTCTGTCTGCAGGCTTGAGTTTCACCTGGGTCATGTTGCATGTCAGATGGTGTCCCGTAACTGCGTCACCGAATCCCAAAGGTCCCCTCCCGCTTCTCCTCCACCCAGGCCCTGAGAGTGGGGGCTGCAGGAGGGGTGGGCATGACTGGCTGGCAGGGGCAGTTCGGGAGGCTGGGGTTTGCATCTGTGGCATTGGACCCCCAGGGCTTCCAGACCGCTCCTTCACAAGCCTTTCCCACCCCCATTCCATCCCCTCCCTCCCAACTCCAGGCTGTCATCTCTTACCCCTCTGTCTGCCCACAGACTCCTAGCAACTTGAGAGCAGGGAACAGGCCAGTCCCATCTGGTTCCCCAGAGTTCATCAAGGGGTCTGCCCAGGGAAGGCTCTTGGCAAAGACT
|
Task1_train_16303
|
A mutation found in MYO7A (myosin VIIA) on Chromosome 11 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; Rare genetic deafness
|
GTGAGGATTATATGGGGCAGTTTACGGGATGCAGCCTGTGGAGCCCAGGCCCACAGTGAATGCTCAGTAAACAGTTCTCTTCCACGCCCAAGCCTCTCCAATTTTTCTTACTTTTTCTGGGAGGAAGTTTGGGTTTGGGACTAGCCTGACTCTATCATGTGCCAACCTCCCATTCACATGAAGAGAGGGTCCACAGGGGCAGCTGTGGCTGGAAAATAGCACATAGATGGCAGTGGTCCCATAAGACTATAATGCCATATTTTACTGTACCTTTTATGTGTATGTTTAGATATGTTTACATACACAAATACACACTATGGATTATGACTGCCTATAGTATTCAGTACAGTAGCAGGTTGTACAGGTTTGTAGTGTAGGAGCAAGAGGCTACCCCATCCAGCCTAGGTGTGTAGTGGGCTGTACCATCTAGGTTTGTGAAGTACACTCGATGACTTCATATGTTTGCATAGAACTTATCTCTGACATTAACAATGCATGACTGTAGCTGGTTCTGATGGGAACAAGAGGAGGCTGAAACAGTAATGAGTTGGTCTTGGACTCACTGAGTTCAGCCTTCACTGAGAAATGTGGAAATTGAGGCTCAGAGAGGTCAGCGACTCACCCAAGGCCGGGTAGGGCCTGAAACCCAGTCTTCTGACTCCTAGCCCAGAACAGATTCTGTCAGACCATTACCACGGTTTACTTCATTGTGAATCAGTTTTATAAGTTGTTACATTTTTTTTTACTTGATATTAAGTTATATTCTTATTAGAATGTCCCAACTCCTAGGGAGTTGGAGTACCACCCAAAAAAGAATACTTTTATTAGGATTAGAATAAAATCTAAGCTTGTATCCCAAGGCCAGCAAAGGGCCTATGTGTCCTGGACCCTGCCTACTTCTCTGAGCTCCCTCTCGCCCATCAGGTCCTACCTCCTGGCTGTTCCTTTCTGCCGCAGGGCCTTTGCATGTGCTGTTTCCTATGCTGGGATTACTGTCCCCTGCTTTTCCCTTGGCTGACTGCTTGTCACCCTTCAGGTGTCAGCTCAGCGATTCCCTCCATGGAGCGGCTCCATTGGCTACTGGGTCTAGGTTGGTTGGCTCTGTCATTCTCCACCATTGGCTTGTTTGTTTCCTTGACAGCACTCACCAGTATCCAAAGTGATCGTGCTGATCTATTTGCTCAGTTTTTTGTCACCACCTCTAACTAGAACGTAGACTCCATAATCACTGCTCAACCCCCAGCATTTAGATTAATCAGTGCTTTGCACTCAGTAGGTAATCAATACATGTTTGTTGAATCCATCAGTGCTGAATGTGGTTGTTCTTAGTCCATTTCTCTGACTTGGGATTTTACGTTTGGCTCTCACGATCCCTTGCTGAATGAGTAGTGCGAGTCAGGCCCTGGGCCAGATGCCGCAGGGGACACAAAGCGACATCCTCCCCCAGGATCAGGGCTCTCTCCACATGCCAGAAGACAATGTGGCTGAACCCTTCTCTAGTGCCCAGCACGGAGTGGTGTCCCTGTGAGGAACCTGTCATAATGATGATAAAAATCAGCCCTGGAGGTGAAGGAGGCTGCAGCATTCACCCACTGTCTGGGTGTCCTGTGGTGTCATGTTAGAGAGGAAGTGGTTTGAGTGGTCTGGTGTTTCTGTCTAGACCCCAGTGAATCTGTCATACACATGTAGGGTGTAGATCCATGGGGAGAGCTGGGCTTTGAGAGGCCTTGGCTCTCTCTGAGCCTCTGCTAAGTCATCCATAAAATGGGAATATGGCTGTTCTAGAGGGGGGATTGATGAGATTGCATAAATGCCCAGCCCAGGGCCTGCACTGCTCCAGAAGGTTGCTAGTAAGTGTGAGTCCCCTTCTCTTCCCCCTTGTGTGGTTGGCTCAGAGCCTCTGATTGTAGCAGAGGGATATAGGGCTGCCTGGAAGGGGCTCCAATCCCCCTCCCTGCTCACCTGGGCTGAGACTCTCTCTCGCCCATAGGGGGACCATGTGTGGATGGACCTGAGATTGGGGCAGGAGTTCGACGTGCCCATCGGGGCGGTGGTGAAGCTCTGCGACTCTGGGCAGGTCCAGGTGGTGGATGATGAAGACAATGTGAGTAGTCCCCTCCCTCCTCCTGCCCCATGCCTTGGGGTCAGACCTGGGCTGACAGCTGCCTTGATGCAGGGAGATGATCGAAAGGAGATGGAGGCCATGCCCATGCCCCCACTTCTGCCTCTCAGATGCCCCCTTCCATGAGCTTTCCCCAGCACCCCAACAAGAGGGAACCCCTGCCTGCCTCAGGCTACTTGTTCTGTTTCCACAAGCACTTCAGTCCACTCTGCATGGTGTTAGAGATGTGTGTGTGTGTGGTGGGGTTTGAGTGCAGGGGGAGCAGGCTAGGAGCTCCTCAGACACAGAGGTGCTTTGGGGGCAGACTGCATTCAAATCCTATCTCGTCCATTTGTTAGCTGCGCAAACTTGGCCTAGTCTCCTTCCCTCCTGACCCTCAGTTTCCTCTTTGTAAAATGAGGATAATAATACGTATCTCACAGGGCTGTTGACCCATACATGAGATCACACGTGCAGAACACCTCAGTGAAGTTAGTGCTAGTCTGAAAGTTAAATGAACGTCCACAGCCTCACTGTGTTGGGTTACTGACATCACATGAATCCACTGTCCACCTTGACACTGCTCTGGAAATTGGTCTCACAGATTAACCCTTTATCTGTGGCCCAGAAGGAAAGGGACCCCAGAAGTGTAAGTTTTCTAGGTAATGATAGTGGGGCCTTGGGGAGGGAAGGAGAGGTCTGAAGTCAGGGGCCTGCCCCGGAGAAGGTGGCTGGTTCACGTGAGGGCCCGGAGGGGAAGCCCTGGGGCCTCTGAGCATGCGTGCACATGTGTGTGTCACTGGGGGTATGCAGATGGGGTGCAGAGCACACAGGGGCAGCTTAGCAGGGATATGAAGAATCCAGGGAGATTCAGCTCTGCCATAATGTGGGCTGTGCCCTGCGGTGTGCCAGGGGCTGGGACACAGAATTGGACTGAGTCCCTCTTAGCCTCCTGGTCTGAGGGAGGAGAGTCAGGAGAAAGAGGGTGCAGGGACTTGAAACTGAGGCTCTGCTGGGGACGACGGGAGGGCTCAGGACCCTCGAGGCCAGGTGCTTGACAAGGAGTGGGCAGGAGCATCCCAGATATTCCTGCAGCCCTCAGGTGCATCCCCTCAGAGTTTGCAAGACCCTTTAACCCAAGTTCTGTCTTTGGACTCTCATGGCATCTGTGGAAGGCAGGGAGGGAAAGAATTGTCATCCCATGAGGAAACTGAGGCACATAGAGGGACCACACAGCCAGTCACACAGCTAGTAAGTGATGGTGCTGGGATTAGAACCCAGGACCTCTGTCTTCTATGCATGAGTTTCCCCTGTCAGCATTATCTCAGCGGCGACTTTGGAGCTCAGATTCTGCTAATCACATTTTTGGCCCTTGGGCCGTAGAACCCAAGGCCTGCAATATCATTCCAGAGGCTCCAGTTCTAGGACCCTCTAGGAACCTACTATGAGGGTGCAGCCACAGAAGGGGAGGCACAGGCTGGGTGGCAGCATAGACGGGCCTGCTAACCTGCCCAGAGCCCCCAGGGTGGGGACCAGGGACTCTGTCTGCAGGCTTGAGTTTCACCTGGGTCATGTTGCATGTCAGATGGTGTCCCGTAACTGCGTCACCGAATCCCAAAGGTCCCCTCCCGCTTCTCCTCCACCCAGGCCCTGAGAGTGGGGGCTGCAGGAGGGGTGGGCATGACTGGCTGGCAGGGGCAGTTCGGGAGGCTGGGGTTTGCATCTGTGGCATTGGACCCCCAGGGCTTCCAGACCGCTCCTTCACAAGCCTTTCCCACCCCCATTCCATCCCCTCCCTCCCAACTCCAGGCTGTCATCTCTTACCCCTCTGTCTGCCCACAGACTCCTAGCAACTTGAGAGCAGGGAACAGGCCAGTCCCATCTGGTTCCCCAGAGTTCATCAAGGGGTCTGCCCAGGGAAGGCTCTTGGCAAAGACTCGCTGAGTGATGAATGAAAGGTTATGGTTTCAGTCCCCACTGGAATCCCAGTGTCTT
|
GTGAGGATTATATGGGGCAGTTTACGGGATGCAGCCTGTGGAGCCCAGGCCCACAGTGAATGCTCAGTAAACAGTTCTCTTCCACGCCCAAGCCTCTCCAATTTTTCTTACTTTTTCTGGGAGGAAGTTTGGGTTTGGGACTAGCCTGACTCTATCATGTGCCAACCTCCCATTCACATGAAGAGAGGGTCCACAGGGGCAGCTGTGGCTGGAAAATAGCACATAGATGGCAGTGGTCCCATAAGACTATAATGCCATATTTTACTGTACCTTTTATGTGTATGTTTAGATATGTTTACATACACAAATACACACTATGGATTATGACTGCCTATAGTATTCAGTACAGTAGCAGGTTGTACAGGTTTGTAGTGTAGGAGCAAGAGGCTACCCCATCCAGCCTAGGTGTGTAGTGGGCTGTACCATCTAGGTTTGTGAAGTACACTCGATGACTTCATATGTTTGCATAGAACTTATCTCTGACATTAACAATGCATGACTGTAGCTGGTTCTGATGGGAACAAGAGGAGGCTGAAACAGTAATGAGTTGGTCTTGGACTCACTGAGTTCAGCCTTCACTGAGAAATGTGGAAATTGAGGCTCAGAGAGGTCAGCGACTCACCCAAGGCCGGGTAGGGCCTGAAACCCAGTCTTCTGACTCCTAGCCCAGAACAGATTCTGTCAGACCATTACCACGGTTTACTTCATTGTGAATCAGTTTTATAAGTTGTTACATTTTTTTTTACTTGATATTAAGTTATATTCTTATTAGAATGTCCCAACTCCTAGGGAGTTGGAGTACCACCCAAAAAAGAATACTTTTATTAGGATTAGAATAAAATCTAAGCTTGTATCCCAAGGCCAGCAAAGGGCCTATGTGTCCTGGACCCTGCCTACTTCTCTGAGCTCCCTCTCGCCCATCAGGTCCTACCTCCTGGCTGTTCCTTTCTGCCGCAGGGCCTTTGCATGTGCTGTTTCCTATGCTGGGATTACTGTCCCCTGCTTTTCCCTTGGCTGACTGCTTGTCACCCTTCAGGTGTCAGCTCAGCGATTCCCTCCATGGAGCGGCTCCATTGGCTACTGGGTCTAGGTTGGTTGGCTCTGTCATTCTCCACCATTGGCTTGTTTGTTTCCTTGACAGCACTCACCAGTATCCAAAGTGATCGTGCTGATCTATTTGCTCAGTTTTTTGTCACCACCTCTAACTAGAACGTAGACTCCATAATCACTGCTCAACCCCCAGCATTTAGATTAATCAGTGCTTTGCACTCAGTAGGTAATCAATACATGTTTGTTGAATCCATCAGTGCTGAATGTGGTTGTTCTTAGTCCATTTCTCTGACTTGGGATTTTACGTTTGGCTCTCACGATCCCTTGCTGAATGAGTAGTGCGAGTCAGGCCCTGGGCCAGATGCCGCAGGGGACACAAAGCGACATCCTCCCCCAGGATCAGGGCTCTCTCCACATGCCAGAAGACAATGTGGCTGAACCCTTCTCTAGTGCCCAGCACGGAGTGGTGTCCCTGTGAGGAACCTGTCATAATGATGATAAAAATCAGCCCTGGAGGTGAAGGAGGCTGCAGCATTCACCCACTGTCTGGGTGTCCTGTGGTGTCATGTTAGAGAGGAAGTGGTTTGAGTGGTCTGGTGTTTCTGTCTAGACCCCAGTGAATCTGTCATACACATGTAGGGTGTAGATCCATGGGGAGAGCTGGGCTTTGAGAGGCCTTGGCTCTCTCTGAGCCTCTGCTAAGTCATCCATAAAATGGGAATATGGCTGTTCTAGAGGGGGGATTGATGAGATTGCATAAATGCCCAGCCCAGGGCCTGCACTGCTCCAGAAGGTTGCTAGTAAGTGTGAGTCCCCTTCTCTTCCCCCTTGTGTGGTTGGCTCAGAGCCTCTGATTGTAGCAGAGGGATATAGGGCTGCCTGGAAGGGGCTCCAATCCCCCTCCCTGCTCACCTGGGCTGAGACTCTCTCTCGCCCATAGGGGGACCATGTGTGGATGGACCTGAGATTGGGGCAGGAGTTCGACGTGCCCATCGGGGAGGTGGTGAAGCTCTGCGACTCTGGGCAGGTCCAGGTGGTGGATGATGAAGACAATGTGAGTAGTCCCCTCCCTCCTCCTGCCCCATGCCTTGGGGTCAGACCTGGGCTGACAGCTGCCTTGATGCAGGGAGATGATCGAAAGGAGATGGAGGCCATGCCCATGCCCCCACTTCTGCCTCTCAGATGCCCCCTTCCATGAGCTTTCCCCAGCACCCCAACAAGAGGGAACCCCTGCCTGCCTCAGGCTACTTGTTCTGTTTCCACAAGCACTTCAGTCCACTCTGCATGGTGTTAGAGATGTGTGTGTGTGTGGTGGGGTTTGAGTGCAGGGGGAGCAGGCTAGGAGCTCCTCAGACACAGAGGTGCTTTGGGGGCAGACTGCATTCAAATCCTATCTCGTCCATTTGTTAGCTGCGCAAACTTGGCCTAGTCTCCTTCCCTCCTGACCCTCAGTTTCCTCTTTGTAAAATGAGGATAATAATACGTATCTCACAGGGCTGTTGACCCATACATGAGATCACACGTGCAGAACACCTCAGTGAAGTTAGTGCTAGTCTGAAAGTTAAATGAACGTCCACAGCCTCACTGTGTTGGGTTACTGACATCACATGAATCCACTGTCCACCTTGACACTGCTCTGGAAATTGGTCTCACAGATTAACCCTTTATCTGTGGCCCAGAAGGAAAGGGACCCCAGAAGTGTAAGTTTTCTAGGTAATGATAGTGGGGCCTTGGGGAGGGAAGGAGAGGTCTGAAGTCAGGGGCCTGCCCCGGAGAAGGTGGCTGGTTCACGTGAGGGCCCGGAGGGGAAGCCCTGGGGCCTCTGAGCATGCGTGCACATGTGTGTGTCACTGGGGGTATGCAGATGGGGTGCAGAGCACACAGGGGCAGCTTAGCAGGGATATGAAGAATCCAGGGAGATTCAGCTCTGCCATAATGTGGGCTGTGCCCTGCGGTGTGCCAGGGGCTGGGACACAGAATTGGACTGAGTCCCTCTTAGCCTCCTGGTCTGAGGGAGGAGAGTCAGGAGAAAGAGGGTGCAGGGACTTGAAACTGAGGCTCTGCTGGGGACGACGGGAGGGCTCAGGACCCTCGAGGCCAGGTGCTTGACAAGGAGTGGGCAGGAGCATCCCAGATATTCCTGCAGCCCTCAGGTGCATCCCCTCAGAGTTTGCAAGACCCTTTAACCCAAGTTCTGTCTTTGGACTCTCATGGCATCTGTGGAAGGCAGGGAGGGAAAGAATTGTCATCCCATGAGGAAACTGAGGCACATAGAGGGACCACACAGCCAGTCACACAGCTAGTAAGTGATGGTGCTGGGATTAGAACCCAGGACCTCTGTCTTCTATGCATGAGTTTCCCCTGTCAGCATTATCTCAGCGGCGACTTTGGAGCTCAGATTCTGCTAATCACATTTTTGGCCCTTGGGCCGTAGAACCCAAGGCCTGCAATATCATTCCAGAGGCTCCAGTTCTAGGACCCTCTAGGAACCTACTATGAGGGTGCAGCCACAGAAGGGGAGGCACAGGCTGGGTGGCAGCATAGACGGGCCTGCTAACCTGCCCAGAGCCCCCAGGGTGGGGACCAGGGACTCTGTCTGCAGGCTTGAGTTTCACCTGGGTCATGTTGCATGTCAGATGGTGTCCCGTAACTGCGTCACCGAATCCCAAAGGTCCCCTCCCGCTTCTCCTCCACCCAGGCCCTGAGAGTGGGGGCTGCAGGAGGGGTGGGCATGACTGGCTGGCAGGGGCAGTTCGGGAGGCTGGGGTTTGCATCTGTGGCATTGGACCCCCAGGGCTTCCAGACCGCTCCTTCACAAGCCTTTCCCACCCCCATTCCATCCCCTCCCTCCCAACTCCAGGCTGTCATCTCTTACCCCTCTGTCTGCCCACAGACTCCTAGCAACTTGAGAGCAGGGAACAGGCCAGTCCCATCTGGTTCCCCAGAGTTCATCAAGGGGTCTGCCCAGGGAAGGCTCTTGGCAAAGACTCGCTGAGTGATGAATGAAAGGTTATGGTTTCAGTCCCCACTGGAATCCCAGTGTCTT
|
Task1_train_16304
|
The gene MYO7A (myosin VIIA) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
|
Pathogenic; not provided
|
AGCTGGGCATGGTGGCACATGCCTAGAACCCCAGCTACTCGAGACGTGGAGGCAGGAGAATCTCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCTGAGATTGAGCCACTGCACCCAGCCTGGGCGACAGAGCGAGACTCTGCCTCAAAAGAGAGAAAGGAAGGTGGCGTTTATGTATCAGGCGCCTGGCAAAGGTTATGTCTTTGCCCTTTAGTCTTTACAACAGCCAAGGGAGGTGGGTGTTAACCTCCCCTTTTACAAATTAGCAAACTGAGGTTTGCCAAAGGGATGTTCTTTGGGGCTGGTTCCTAGTCTGATGCAGGTTTCCACCAGAATCTAGCCGGTTCCCATGGCTGGGCAGGGCTGAACTATAGGGGATGATGGCTGAGGGGTCTGAGAGCAGGGCCTGGTGGGCTGGGGGTCCACAGGTCCTGATCTGAGAATTCAGCAGCCCTGGGCCATGTGGGTGTCATTCGTGGAAAATGCTCTTGTAGCCCCTGTTCCCCACTGACCAGCTTCCTTTGCTTCTGCTCTGCACTTTGCAACCTCAGACCAACTGCGGAGGGCGGGTGAGTGTGGCACAGAGAGCCAGCTCCAGCTGGCGTCTTATTTGGCTGCCTGCCTGCTTGGCCTGGCTGCTCCCCTCCAGCCTCCCGCCCCCACCCCACCCCAGCTCTTCCTGCTTGGCTCTTGTGGTACGGTTAGTAGGTCAGCACAGTGAGGCTCAAGTGCTTCTCTCCATGGGTTGATTGGAGGAAGAGGCTTAGGTGGGAAAGGAAGGTCTTCCTGGGCCCAGGGGCCCAGAGAAGGGCAGTTTCTGGCCAGCCCTCCTGGTCCAGGCCAGCCAAGGCCAGGACTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGAT
|
AGCTGGGCATGGTGGCACATGCCTAGAACCCCAGCTACTCGAGACGTGGAGGCAGGAGAATCTCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCTGAGATTGAGCCACTGCACCCAGCCTGGGCGACAGAGCGAGACTCTGCCTCAAAAGAGAGAAAGGAAGGTGGCGTTTATGTATCAGGCGCCTGGCAAAGGTTATGTCTTTGCCCTTTAGTCTTTACAACAGCCAAGGGAGGTGGGTGTTAACCTCCCCTTTTACAAATTAGCAAACTGAGGTTTGCCAAAGGGATGTTCTTTGGGGCTGGTTCCTAGTCTGATGCAGGTTTCCACCAGAATCTAGCCGGTTCCCATGGCTGGGCAGGGCTGAACTATAGGGGATGATGGCTGAGGGGTCTGAGAGCAGGGCCTGGTGGGCTGGGGGTCCACAGGTCCTGATCTGAGAATTCAGCAGCCCTGGGCCATGTGGGTGTCATTCGTGGAAAATGCTCTTGTAGCCCCTGTTCCCCACTGACCAGCTTCCTTTGCTTCTGCTCTGCACTTTGCAACCTCAGACCAACTGCGGAGGGCGGGTGAGTGTGGCACAGAGAGCCAGCTCCAGCTGGCGTCTTATTTGGCTGCCTGCCTGCTTGGCCTGGCTGCTCCCCTCCAGCCTCCCGCCCCCACCCCACCCCAGCTCTTCCTGCTTGGCTCTTGTGGTACGGTTAGTAGGTCAGCACAGTGAGGCTCAAGTGCTTCTCTCCATGGGTTGATTGGAGGAAGAGGCTTAGGTGGGAAAGGAAGGTCTTCCTGGGCCCAGGGGCCCAGAGAAGGGCAGTTTCTGGCCAGCCCTCCTGGTCCAGGCCAGCCAAGGCCAGGACTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCTCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGAT
|
Task1_train_16305
|
A variant affecting Chromosome 11, within the gene MYO7A (myosin VIIA), has been observed. Determine if it's benign or associated with disease.
|
Pathogenic; not provided
|
CACCCCAGCTCTTCCTGCTTGGCTCTTGTGGTACGGTTAGTAGGTCAGCACAGTGAGGCTCAAGTGCTTCTCTCCATGGGTTGATTGGAGGAAGAGGCTTAGGTGGGAAAGGAAGGTCTTCCTGGGCCCAGGGGCCCAGAGAAGGGCAGTTTCTGGCCAGCCCTCCTGGTCCAGGCCAGCCAAGGCCAGGACTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCAC
|
CACCCCAGCTCTTCCTGCTTGGCTCTTGTGGTACGGTTAGTAGGTCAGCACAGTGAGGCTCAAGTGCTTCTCTCCATGGGTTGATTGGAGGAAGAGGCTTAGGTGGGAAAGGAAGGTCTTCCTGGGCCCAGGGGCCCAGAGAAGGGCAGTTTCTGGCCAGCCCTCCTGGTCCAGGCCAGCCAAGGCCAGGACTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAACACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCAC
|
Task1_train_16306
|
This genomic variant is located on Chromosome 11, within the MYO7A (myosin VIIA) gene. Can you determine its pathogenicity and name any linked disease?
|
Pathogenic; Rare genetic deafness
|
CCCCAGCTCTTCCTGCTTGGCTCTTGTGGTACGGTTAGTAGGTCAGCACAGTGAGGCTCAAGTGCTTCTCTCCATGGGTTGATTGGAGGAAGAGGCTTAGGTGGGAAAGGAAGGTCTTCCTGGGCCCAGGGGCCCAGAGAAGGGCAGTTTCTGGCCAGCCCTCCTGGTCCAGGCCAGCCAAGGCCAGGACTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACAT
|
CCCCAGCTCTTCCTGCTTGGCTCTTGTGGTACGGTTAGTAGGTCAGCACAGTGAGGCTCAAGTGCTTCTCTCCATGGGTTGATTGGAGGAAGAGGCTTAGGTGGGAAAGGAAGGTCTTCCTGGGCCCAGGGGCCCAGAGAAGGGCAGTTTCTGGCCAGCCCTCCTGGTCCAGGCCAGCCAAGGCCAGGACTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGATGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACAT
|
Task1_train_16307
|
The variant affects gene MYO7A (myosin VIIA), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
|
Pathogenic; Retinal dystrophy
|
CCCCAGCTCTTCCTGCTTGGCTCTTGTGGTACGGTTAGTAGGTCAGCACAGTGAGGCTCAAGTGCTTCTCTCCATGGGTTGATTGGAGGAAGAGGCTTAGGTGGGAAAGGAAGGTCTTCCTGGGCCCAGGGGCCCAGAGAAGGGCAGTTTCTGGCCAGCCCTCCTGGTCCAGGCCAGCCAAGGCCAGGACTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACAT
|
CCCCAGCTCTTCCTGCTTGGCTCTTGTGGTACGGTTAGTAGGTCAGCACAGTGAGGCTCAAGTGCTTCTCTCCATGGGTTGATTGGAGGAAGAGGCTTAGGTGGGAAAGGAAGGTCTTCCTGGGCCCAGGGGCCCAGAGAAGGGCAGTTTCTGGCCAGCCCTCCTGGTCCAGGCCAGCCAAGGCCAGGACTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGATGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACAT
|
Task1_train_16308
|
Given this variant in gene MYO7A (myosin VIIA) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
|
Pathogenic; Autosomal recessive nonsyndromic hearing loss 2
|
CCCCAGCTCTTCCTGCTTGGCTCTTGTGGTACGGTTAGTAGGTCAGCACAGTGAGGCTCAAGTGCTTCTCTCCATGGGTTGATTGGAGGAAGAGGCTTAGGTGGGAAAGGAAGGTCTTCCTGGGCCCAGGGGCCCAGAGAAGGGCAGTTTCTGGCCAGCCCTCCTGGTCCAGGCCAGCCAAGGCCAGGACTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACAT
|
CCCCAGCTCTTCCTGCTTGGCTCTTGTGGTACGGTTAGTAGGTCAGCACAGTGAGGCTCAAGTGCTTCTCTCCATGGGTTGATTGGAGGAAGAGGCTTAGGTGGGAAAGGAAGGTCTTCCTGGGCCCAGGGGCCCAGAGAAGGGCAGTTTCTGGCCAGCCCTCCTGGTCCAGGCCAGCCAAGGCCAGGACTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGATGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACAT
|
Task1_train_16309
|
The gene MYO7A (myosin VIIA) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
|
Pathogenic; Usher syndrome type 1
|
CCCCAGCTCTTCCTGCTTGGCTCTTGTGGTACGGTTAGTAGGTCAGCACAGTGAGGCTCAAGTGCTTCTCTCCATGGGTTGATTGGAGGAAGAGGCTTAGGTGGGAAAGGAAGGTCTTCCTGGGCCCAGGGGCCCAGAGAAGGGCAGTTTCTGGCCAGCCCTCCTGGTCCAGGCCAGCCAAGGCCAGGACTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACAT
|
CCCCAGCTCTTCCTGCTTGGCTCTTGTGGTACGGTTAGTAGGTCAGCACAGTGAGGCTCAAGTGCTTCTCTCCATGGGTTGATTGGAGGAAGAGGCTTAGGTGGGAAAGGAAGGTCTTCCTGGGCCCAGGGGCCCAGAGAAGGGCAGTTTCTGGCCAGCCCTCCTGGTCCAGGCCAGCCAAGGCCAGGACTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGATGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACAT
|
Task1_train_16310
|
Here’s a variant in MYO7A (myosin VIIA) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; Autosomal dominant nonsyndromic hearing loss 11
|
CCCCAGCTCTTCCTGCTTGGCTCTTGTGGTACGGTTAGTAGGTCAGCACAGTGAGGCTCAAGTGCTTCTCTCCATGGGTTGATTGGAGGAAGAGGCTTAGGTGGGAAAGGAAGGTCTTCCTGGGCCCAGGGGCCCAGAGAAGGGCAGTTTCTGGCCAGCCCTCCTGGTCCAGGCCAGCCAAGGCCAGGACTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACAT
|
CCCCAGCTCTTCCTGCTTGGCTCTTGTGGTACGGTTAGTAGGTCAGCACAGTGAGGCTCAAGTGCTTCTCTCCATGGGTTGATTGGAGGAAGAGGCTTAGGTGGGAAAGGAAGGTCTTCCTGGGCCCAGGGGCCCAGAGAAGGGCAGTTTCTGGCCAGCCCTCCTGGTCCAGGCCAGCCAAGGCCAGGACTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGATGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACAT
|
Task1_train_16311
|
This variant affects gene MYO7A (myosin VIIA) located on Chromosome 11. Evaluate its biological effect and specify any disease association.
|
Pathogenic; Autosomal recessive nonsyndromic hearing loss 2
|
GCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACATGTCTTAGAGAGAGGGTAAATCTTTGAACTAATTCACTCTAAGGTGTGAGTGACTGGATAGCCATCTTTGGAAAGGGAGAAGGCTAGGGAAGGGAACGTGTTCACTCATCTAACATTCTTGGACACCCACTATGTGCCAGGCTGGGAGGTGATCCCCTGAGGCAGGTGGCAGGTCCCACTCTGCTCTTGCCCCTGATTCCCAGCATG
|
GCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAGTGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACATGTCTTAGAGAGAGGGTAAATCTTTGAACTAATTCACTCTAAGGTGTGAGTGACTGGATAGCCATCTTTGGAAAGGGAGAAGGCTAGGGAAGGGAACGTGTTCACTCATCTAACATTCTTGGACACCCACTATGTGCCAGGCTGGGAGGTGATCCCCTGAGGCAGGTGGCAGGTCCCACTCTGCTCTTGCCCCTGATTCCCAGCATG
|
Task1_train_16312
|
This mutation occurs in MYO7A (myosin VIIA) on Chromosome 11. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; Autosomal recessive nonsyndromic hearing loss 2
|
CAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACATGTCTTAGAGAGAGGGTAAATCTTTGAACTAATTCACTCTAAGGTGTGAGTGACTGGATAGCCATCTTTGGAAAGGGAGAAGGCTAGGGAAGGGAACGTGTTCACTCATCTAACATTCTTGGACACCCACTATGTGCCAGGCTGGGAGGTGATCCCCTGAGGCAGGTGGCAGGTCCCACTCTGCTCTTGCCCCTGATTCCCAGCATGGTCCCCAGGCAGAG
|
CAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCTGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACATGTCTTAGAGAGAGGGTAAATCTTTGAACTAATTCACTCTAAGGTGTGAGTGACTGGATAGCCATCTTTGGAAAGGGAGAAGGCTAGGGAAGGGAACGTGTTCACTCATCTAACATTCTTGGACACCCACTATGTGCCAGGCTGGGAGGTGATCCCCTGAGGCAGGTGGCAGGTCCCACTCTGCTCTTGCCCCTGATTCCCAGCATGGTCCCCAGGCAGAG
|
Task1_train_16313
|
The following genetic variant occurs in MYO7A (myosin VIIA) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition.
|
Pathogenic; Autosomal dominant nonsyndromic hearing loss 11
|
CAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACATGTCTTAGAGAGAGGGTAAATCTTTGAACTAATTCACTCTAAGGTGTGAGTGACTGGATAGCCATCTTTGGAAAGGGAGAAGGCTAGGGAAGGGAACGTGTTCACTCATCTAACATTCTTGGACACCCACTATGTGCCAGGCTGGGAGGTGATCCCCTGAGGCAGGTGGCAGGTCCCACTCTGCTCTTGCCCCTGATTCCCAGCATGGTCCCCAGGCAGAG
|
CAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCTGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACATGTCTTAGAGAGAGGGTAAATCTTTGAACTAATTCACTCTAAGGTGTGAGTGACTGGATAGCCATCTTTGGAAAGGGAGAAGGCTAGGGAAGGGAACGTGTTCACTCATCTAACATTCTTGGACACCCACTATGTGCCAGGCTGGGAGGTGATCCCCTGAGGCAGGTGGCAGGTCCCACTCTGCTCTTGCCCCTGATTCCCAGCATGGTCCCCAGGCAGAG
|
Task1_train_16314
|
A mutation found in MYO7A (myosin VIIA) on Chromosome 11 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; Usher syndrome type 1
|
CAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACATGTCTTAGAGAGAGGGTAAATCTTTGAACTAATTCACTCTAAGGTGTGAGTGACTGGATAGCCATCTTTGGAAAGGGAGAAGGCTAGGGAAGGGAACGTGTTCACTCATCTAACATTCTTGGACACCCACTATGTGCCAGGCTGGGAGGTGATCCCCTGAGGCAGGTGGCAGGTCCCACTCTGCTCTTGCCCCTGATTCCCAGCATGGTCCCCAGGCAGAG
|
CAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCTGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACATGTCTTAGAGAGAGGGTAAATCTTTGAACTAATTCACTCTAAGGTGTGAGTGACTGGATAGCCATCTTTGGAAAGGGAGAAGGCTAGGGAAGGGAACGTGTTCACTCATCTAACATTCTTGGACACCCACTATGTGCCAGGCTGGGAGGTGATCCCCTGAGGCAGGTGGCAGGTCCCACTCTGCTCTTGCCCCTGATTCCCAGCATGGTCCCCAGGCAGAG
|
Task1_train_16315
|
A variant was discovered in gene MYO7A (myosin VIIA), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful.
|
Pathogenic; Rare genetic deafness
|
GGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACATGTCTTAGAGAGAGGGTAAATCTTTGAACTAATTCACTCTAAGGTGTGAGTGACTGGATAGCCATCTTTGGAAAGGGAGAAGGCTAGGGAAGGGAACGTGTTCACTCATCTAACATTCTTGGACACCCACTATGTGCCAGGCTGGGAGGTGATCCCCTGAGGCAGGTGGCAGGTCCCACTCTGCTCTTGCCCCTGATTCCCAGCATGGTCCCCAGGCAGAGTAGGAG
|
GGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCAGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACATGTCTTAGAGAGAGGGTAAATCTTTGAACTAATTCACTCTAAGGTGTGAGTGACTGGATAGCCATCTTTGGAAAGGGAGAAGGCTAGGGAAGGGAACGTGTTCACTCATCTAACATTCTTGGACACCCACTATGTGCCAGGCTGGGAGGTGATCCCCTGAGGCAGGTGGCAGGTCCCACTCTGCTCTTGCCCCTGATTCCCAGCATGGTCCCCAGGCAGAGTAGGAG
|
Task1_train_16316
|
Here is a variant affecting MYO7A (myosin VIIA) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder.
|
Pathogenic; Autosomal recessive nonsyndromic hearing loss 2
|
GGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACATGTCTTAGAGAGAGGGTAAATCTTTGAACTAATTCACTCTAAGGTGTGAGTGACTGGATAGCCATCTTTGGAAAGGGAGAAGGCTAGGGAAGGGAACGTGTTCACTCATCTAACATTCTTGGACACCCACTATGTGCCAGGCTGGGAGGTGATCCCCTGAGGCAGGTGGCAGGTCCCACTCTGCTCTTGCCCCTGATTCCCAGCATGGTCCCCAGGCAGAGTAGGAG
|
GGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCAGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACATGTCTTAGAGAGAGGGTAAATCTTTGAACTAATTCACTCTAAGGTGTGAGTGACTGGATAGCCATCTTTGGAAAGGGAGAAGGCTAGGGAAGGGAACGTGTTCACTCATCTAACATTCTTGGACACCCACTATGTGCCAGGCTGGGAGGTGATCCCCTGAGGCAGGTGGCAGGTCCCACTCTGCTCTTGCCCCTGATTCCCAGCATGGTCCCCAGGCAGAGTAGGAG
|
Task1_train_16317
|
The gene MYO7A (myosin VIIA) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation?
|
Pathogenic; Usher syndrome type 1
|
GGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACATGTCTTAGAGAGAGGGTAAATCTTTGAACTAATTCACTCTAAGGTGTGAGTGACTGGATAGCCATCTTTGGAAAGGGAGAAGGCTAGGGAAGGGAACGTGTTCACTCATCTAACATTCTTGGACACCCACTATGTGCCAGGCTGGGAGGTGATCCCCTGAGGCAGGTGGCAGGTCCCACTCTGCTCTTGCCCCTGATTCCCAGCATGGTCCCCAGGCAGAGTAGGAG
|
GGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCAGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACATGTCTTAGAGAGAGGGTAAATCTTTGAACTAATTCACTCTAAGGTGTGAGTGACTGGATAGCCATCTTTGGAAAGGGAGAAGGCTAGGGAAGGGAACGTGTTCACTCATCTAACATTCTTGGACACCCACTATGTGCCAGGCTGGGAGGTGATCCCCTGAGGCAGGTGGCAGGTCCCACTCTGCTCTTGCCCCTGATTCCCAGCATGGTCCCCAGGCAGAGTAGGAG
|
Task1_train_16318
|
A genomic change on Chromosome 11 affects MYO7A (myosin VIIA). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; Autosomal dominant nonsyndromic hearing loss 11
|
GGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACATGTCTTAGAGAGAGGGTAAATCTTTGAACTAATTCACTCTAAGGTGTGAGTGACTGGATAGCCATCTTTGGAAAGGGAGAAGGCTAGGGAAGGGAACGTGTTCACTCATCTAACATTCTTGGACACCCACTATGTGCCAGGCTGGGAGGTGATCCCCTGAGGCAGGTGGCAGGTCCCACTCTGCTCTTGCCCCTGATTCCCAGCATGGTCCCCAGGCAGAGTAGGAG
|
GGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCAGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACATGTCTTAGAGAGAGGGTAAATCTTTGAACTAATTCACTCTAAGGTGTGAGTGACTGGATAGCCATCTTTGGAAAGGGAGAAGGCTAGGGAAGGGAACGTGTTCACTCATCTAACATTCTTGGACACCCACTATGTGCCAGGCTGGGAGGTGATCCCCTGAGGCAGGTGGCAGGTCCCACTCTGCTCTTGCCCCTGATTCCCAGCATGGTCCCCAGGCAGAGTAGGAG
|
Task1_train_16319
|
Gene MYO7A (myosin VIIA), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; Retinal dystrophy
|
GGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACATGTCTTAGAGAGAGGGTAAATCTTTGAACTAATTCACTCTAAGGTGTGAGTGACTGGATAGCCATCTTTGGAAAGGGAGAAGGCTAGGGAAGGGAACGTGTTCACTCATCTAACATTCTTGGACACCCACTATGTGCCAGGCTGGGAGGTGATCCCCTGAGGCAGGTGGCAGGTCCCACTCTGCTCTTGCCCCTGATTCCCAGCATGGTCCCCAGGCAGAGTAGGAG
|
GGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCAGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACATGTCTTAGAGAGAGGGTAAATCTTTGAACTAATTCACTCTAAGGTGTGAGTGACTGGATAGCCATCTTTGGAAAGGGAGAAGGCTAGGGAAGGGAACGTGTTCACTCATCTAACATTCTTGGACACCCACTATGTGCCAGGCTGGGAGGTGATCCCCTGAGGCAGGTGGCAGGTCCCACTCTGCTCTTGCCCCTGATTCCCAGCATGGTCCCCAGGCAGAGTAGGAG
|
Task1_train_16320
|
Here is a variant affecting MYO7A (myosin VIIA) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder.
|
Pathogenic; Usher syndrome
|
GGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACATGTCTTAGAGAGAGGGTAAATCTTTGAACTAATTCACTCTAAGGTGTGAGTGACTGGATAGCCATCTTTGGAAAGGGAGAAGGCTAGGGAAGGGAACGTGTTCACTCATCTAACATTCTTGGACACCCACTATGTGCCAGGCTGGGAGGTGATCCCCTGAGGCAGGTGGCAGGTCCCACTCTGCTCTTGCCCCTGATTCCCAGCATGGTCCCCAGGCAGAGTAGGAG
|
GGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCAGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACATGTCTTAGAGAGAGGGTAAATCTTTGAACTAATTCACTCTAAGGTGTGAGTGACTGGATAGCCATCTTTGGAAAGGGAGAAGGCTAGGGAAGGGAACGTGTTCACTCATCTAACATTCTTGGACACCCACTATGTGCCAGGCTGGGAGGTGATCCCCTGAGGCAGGTGGCAGGTCCCACTCTGCTCTTGCCCCTGATTCCCAGCATGGTCCCCAGGCAGAGTAGGAG
|
Task1_train_16321
|
A genomic change on Chromosome 11 affects MYO7A (myosin VIIA). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; Autosomal recessive nonsyndromic hearing loss 2
|
TGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACATGTCTTAGAGAGAGGGTAAATCTTTGAACTAATTCACTCTAAGGTGTGAGTGACTGGATAGCCATCTTTGGAAAGGGAGAAGGCTAGGGAAGGGAACGTGTTCACTCATCTAACATTCTTGGACACCCACTATGTGCCAGGCTGGGAGGTGATCCCCTGAGGCAGGTGGCAGGTCCCACTCTGCTCTTGCCCCTGATTCCCAGCATGGTCCCCAGGCAGAGTAGGAGCCCCAGGAAATGTGCCCAAGGAATGAATGATCCCAGCACTAAGGAGATCACAGTCTAGGCATCTTGAAAGACTAAGAGACA
|
TGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCAGGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACATGTCTTAGAGAGAGGGTAAATCTTTGAACTAATTCACTCTAAGGTGTGAGTGACTGGATAGCCATCTTTGGAAAGGGAGAAGGCTAGGGAAGGGAACGTGTTCACTCATCTAACATTCTTGGACACCCACTATGTGCCAGGCTGGGAGGTGATCCCCTGAGGCAGGTGGCAGGTCCCACTCTGCTCTTGCCCCTGATTCCCAGCATGGTCCCCAGGCAGAGTAGGAGCCCCAGGAAATGTGCCCAAGGAATGAATGATCCCAGCACTAAGGAGATCACAGTCTAGGCATCTTGAAAGACTAAGAGACA
|
Task1_train_16322
|
Assess the clinical impact of this variant on gene MYO7A (myosin VIIA), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable.
|
Pathogenic; Usher syndrome type 1
|
TGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACATGTCTTAGAGAGAGGGTAAATCTTTGAACTAATTCACTCTAAGGTGTGAGTGACTGGATAGCCATCTTTGGAAAGGGAGAAGGCTAGGGAAGGGAACGTGTTCACTCATCTAACATTCTTGGACACCCACTATGTGCCAGGCTGGGAGGTGATCCCCTGAGGCAGGTGGCAGGTCCCACTCTGCTCTTGCCCCTGATTCCCAGCATGGTCCCCAGGCAGAGTAGGAGCCCCAGGAAATGTGCCCAAGGAATGAATGATCCCAGCACTAAGGAGATCACAGTCTAGGCATCTTGAAAGACTAAGAGACA
|
TGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCAGGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACATGTCTTAGAGAGAGGGTAAATCTTTGAACTAATTCACTCTAAGGTGTGAGTGACTGGATAGCCATCTTTGGAAAGGGAGAAGGCTAGGGAAGGGAACGTGTTCACTCATCTAACATTCTTGGACACCCACTATGTGCCAGGCTGGGAGGTGATCCCCTGAGGCAGGTGGCAGGTCCCACTCTGCTCTTGCCCCTGATTCCCAGCATGGTCCCCAGGCAGAGTAGGAGCCCCAGGAAATGTGCCCAAGGAATGAATGATCCCAGCACTAAGGAGATCACAGTCTAGGCATCTTGAAAGACTAAGAGACA
|
Task1_train_16323
|
This sequence change occurs on Chromosome 11, altering MYO7A (myosin VIIA). What is the medical significance of this variant — is it benign or linked to a disease?
|
Pathogenic; Autosomal dominant nonsyndromic hearing loss 11
|
TGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACATGTCTTAGAGAGAGGGTAAATCTTTGAACTAATTCACTCTAAGGTGTGAGTGACTGGATAGCCATCTTTGGAAAGGGAGAAGGCTAGGGAAGGGAACGTGTTCACTCATCTAACATTCTTGGACACCCACTATGTGCCAGGCTGGGAGGTGATCCCCTGAGGCAGGTGGCAGGTCCCACTCTGCTCTTGCCCCTGATTCCCAGCATGGTCCCCAGGCAGAGTAGGAGCCCCAGGAAATGTGCCCAAGGAATGAATGATCCCAGCACTAAGGAGATCACAGTCTAGGCATCTTGAAAGACTAAGAGACA
|
TGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCAGGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACATGTCTTAGAGAGAGGGTAAATCTTTGAACTAATTCACTCTAAGGTGTGAGTGACTGGATAGCCATCTTTGGAAAGGGAGAAGGCTAGGGAAGGGAACGTGTTCACTCATCTAACATTCTTGGACACCCACTATGTGCCAGGCTGGGAGGTGATCCCCTGAGGCAGGTGGCAGGTCCCACTCTGCTCTTGCCCCTGATTCCCAGCATGGTCCCCAGGCAGAGTAGGAGCCCCAGGAAATGTGCCCAAGGAATGAATGATCCCAGCACTAAGGAGATCACAGTCTAGGCATCTTGAAAGACTAAGAGACA
|
Task1_train_16324
|
Given this context: Chromosome 11, gene MYO7A (myosin VIIA) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
|
Pathogenic; Usher syndrome
|
CTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACATGTCTTAGAGAGAGGGTAAATCTTTGAACTAATTCACTCTAAGGTGTGAGTGACTGGATAGCCATCTTTGGAAAGGGAGAAGGCTAGGGAAGGGAACGTGTTCACTCATCTAACATTCTTGGACACCCACTATGTGCCAGGCTGGGAGGTGATCCCCTGAGGCAGGTGGCAGGTCCCACTCTGCTCTTGCCCCTGATTCCCAGCATGGTCCCCAGGCAGAGTAGGAGCCCCAGGAAATGTGCCCAAGGAATGAATGATCCCAGCACTAAGGAGATCACAGTCTAGGCATCTTGAAAGACTAAGAGACACAGGGAAGGG
|
CTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCCCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACATGTCTTAGAGAGAGGGTAAATCTTTGAACTAATTCACTCTAAGGTGTGAGTGACTGGATAGCCATCTTTGGAAAGGGAGAAGGCTAGGGAAGGGAACGTGTTCACTCATCTAACATTCTTGGACACCCACTATGTGCCAGGCTGGGAGGTGATCCCCTGAGGCAGGTGGCAGGTCCCACTCTGCTCTTGCCCCTGATTCCCAGCATGGTCCCCAGGCAGAGTAGGAGCCCCAGGAAATGTGCCCAAGGAATGAATGATCCCAGCACTAAGGAGATCACAGTCTAGGCATCTTGAAAGACTAAGAGACACAGGGAAGGG
|
Task1_train_16325
|
This mutation occurs in MYO7A (myosin VIIA) on Chromosome 11. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; not provided
|
GGAAAGTGGAGGGATCCGGGTGTGGGTGGAGGGAGGGGCAGGCTGGCAGGTGAGCACCTGGGGTGTTGCCTGTACCAGGTGAACCCCCCAGACCTGATGAGCTGCCTGACTAGCCGCACCCTCATCACCCGCGGGGAGACGGTGTCCACCCCACTGAGCAGGGAACAGGCACTGGACGTGCGCGACGCCTTCGTAAAGGTGGGCTGGAGGGAAGGGGCCGCTTGCTCGCCCTACCCCTTGGGAAGTTGGGCTCTTGATGGGCAGGTGCCAAGGAGTCCTGGGAGGTGGGTAGACATCTGGGTCGCCACCCCTGCCTGCCCCGGGGCTGCAGTCGGCCTTCCTTGAGTCCCAGGTGCCCATGCTCCTCTGGGGCCTTCCCAGCTCTGGCCGCCCCAGGCCCTTGGCTTTTGGCCTGCTTTGGTCAGCCATGTTGTTCCCAGCCCAGGGATACTCTCTTTGGTCTCTTTGCAGAAGACACAGAAGAGGGGATCTAGGTCAGGTCCTGTTTCTACAACCACACGTTTGCCATTCATCGAGCCTTCACCCACCACACCAGGCCCTGGGCTGGGTTCGGGGACCTCAGAGATAAACAGGGTTGGACATAGAGATGAGAGCCCCAAGGAGGGCTCCTTCCCCTGCTGCATGGTCAGGGAAGGCTTCTCCAAGAGGAGCTGTTATCTCAACAGAGCCTTGAAAAATGTGTAGGAACTGTTCAAGCAGGAAAAGGGGTCTCCAGGCAGAGGGAACAGCTCAAGTAAAGGGTTGGGGGTTTCACACGGCACTTTGTTCCACACAAGGGCTGGAGCGACACCACGAAGGGTCCAGGAGCCTGGCCTGTCCCCCGGGGGAGGGTGTGGCTGGTGCCAGTGGCTGATCACTGCCTTTCAGGGGATCTACGGGCGGCTGTTCGTGTGGATTGTGGACAAGATCAACGCAGCAATTTACAAGCCTCCCTCCCAGGATGTGAAGAACTCTCGCAGGTCCATCGGCCTCCTGGACATCTTTGGGTTTGAGAACTTTGCTGTGAACAGGTACCGCGTGGGGCTCTGCTCATGGGAATTTCCTTCCCCAATATGGAAATAAGAAATATCACGTCTCTCCCTTGCGAAGCACATTTAGTTGGCTCCTGGCACACTCTGCCAGGCTGTTCCGTCATCACGGTGGACCCTCTCCCTTTCCTTCCCATCCCCTCGTGTCCCTCACCTCCTCAAGGTCAGCTGAGCCTGGCTGGGGTTGTCAGGAGGCTGTACGCATCCTGAACACTTGGGGAGGAAACCTCTGGTCTCCAGGACCCACTGGCCACTGCCGATCTGCCCAGATCCATGCTGCAAGGCGCCTCAAAGCAGGGAGGCCAGGCCTGTGCCACGCTTGTGTTGGGGTCTCCGCCACCCTTGGGATTCTGTGCCTTTTAGGGGCCGTGTGAGGGACTGATGGGTGGTGTCACATACAGGCGGGTCCTGGAGCCCCACTTCCTGCTGGAAAGTCAGGACCTGGCAAGTCATATCAGTTCCCTTGCTGTTTGGATGTCTCAAAGCCCTCCAGCACCAAAACACCCACACTCAACATACTGGGCTGTGTCCGTGGCTCGGCCATGTCTGCAGCCAGGGCTCTGTTTCCCAAGTCTTGTCAACCCCCTTCCCACCTCCCAAGGCCACTTTTGATGTCCCTGTATGGCCCACCAGCCAGCCTCTGGGGTCTTTCTCTCCCAGGCATCTGCCTGGGGTTTGGGTGCCCACCTGCCAATCCCCAGCCCTCCCCAGGGCTTGATCATGCCAGGGAAAGAGTCCTGAAAAGCCTTAGCTCTCCTTCTGGCTCACAGAGTGACCCTAGGCAAGTCCTTTGCCCTTGCTGGGCCTCCGTGTCCTCCTCTGCACCTGGAGGGAGGTGGACTTGACAATTCCCCTCGCCTCTGAGTTTGGAGTCCATGATGGGGATAGCTTGCTAATGGCCATGCTGCAGGTGGAGGCAGAGCCAGGCCCTGAACAGCATGGTGGGGCCTGAACAACACCCTTACCCCATCCCTGTGCCCCTGCAGCTTTGAGCAGCTCTGCATCAACTTCGCCAATGAGCACCTGCAGCAGTTCTTTGTGCGGCACGTGTTCAAGCTGGAGCAGGAGGAATATGACCTGGAGAGCATTGACTGGCTGCACATCGAGTTCACTGACAACCAGGATGCCCTGGACATGATTGCCAACAAGCCCATGAACATCATCTCCCTCATCGATGAGGAGAGCAAGTTCCCCAAGGTGGGCCGGTCCTGCTGCCGCCTCCCAGGGTCTTGGGTGCGCACAGCTTCCTTCCCTGCTTTGAGCCCCGGCTTTCCTCATCTGCAAAATAGGACTAATGATACCCACCTCTCAAGTTGGCTCAGGGGCCAATTCAAGTATAGGCATCTGCCATTTGGGAATCACCTACAGTCCATGGGGTTCTGGGCCAGGCCATGAAGATCCATGCATGCAGTTGGCATGGAATGGGTACTCAGGACACAGTGTATATCTCAGAGTTGGGGAGGGGGAGAGGGGATTGCACCCATGATTTTAATCTTGGGAAATCGATTGTCTAAACTGGAATGCACTTTCAAAGTTGTGTAGTTCCAATTCATCCACTTAACAGATGGGGAAATGGGGTTCCAGAGAGCGCCTATGTGAGGTAGAAATAAAAGGAGGGGAAGCTCCTGAAGAAGAGACAGGGGGCAAAGACATGGGCAGGGAGGGGAGTGGGGCCCATGGAGGAGAGGGTGGGCTCACAGCTGCCCCTCCACTCCCCAGGGCACAGACACCACCATGTTACACAAGCTGAACTCCCAGCACAAGCTCAACGCCAACTACATCCCCCCCAAGAACAACCATGAGACCCAGTTTGGCATCAACCATTTTGCAGGCATCGTCTACTATGAGACCCAAGGTACAGAGGGCTGCCGGCTGTCTGTCACTCCCTGCCCGTGGCCCTGCCTTCCCCTGCTCCAGCCCAGGAATAAGATATCCGGAATTTTAAAGATTTTTAAAAATTGTGATTATTCATATATATATATATATGAACTTGACTAAAATGGCCAAGTGTTGGATTCAGTGGCACTAAGTACTTCACAGTGCTGTGCATCCAGTACTGCTATCTATTTCCAGGGCTTTCTCACCGCCCCAAACAGAGGCTCTGCAAGCATGGGGCAGTAACTCCTTCCCCTACCCCCGGCCCCCTGTAACCTGTGTTCTACTTTCTGTCTGTGAGTTTGACTATTCTAGGTACCTCATATAAGTGGAATCATATGCTATGGCCATACATCGTTTAACGTCATTTCTGAGAATGTGTCGTTAGGCAATTTGGTCATTGTCAATCATTGTAGAGTGTAGTTATACACCTAGATGGTCCAGCCTACTACATAGCTAGGTTATCTGGTATGGCCTATTGCCCTCAGGCTACAGACCTGTACAGCATGTTCTTGTACTAAATACTGTAGGCAGTTGTGACAGAATGGTAAGTATTTGTGCATTTAAACATAGAAAAGGTAAAGTAAAAATACGTCATTACCATCTTAGCCACCACTATTGTATCTGCAGTTGGCTGAGATGTCATTCTGTGGTGAAGACGTGACTGTATTTGTCCTTTTGTGTCTGGCTTGTTTCATTCAGCGTAATGTCTTTAATTTTCATCCACGTTGTAGCATGTATCAATTGCCCTCATTTTTATGGCTGAATAGTATTTCGTTGTGTGGATAAACCTTTTGTTTATCCATTTATCTGCTAATGGACTTTTGGGGTTGTTTCTACCTTTTGACTTTTGTGAATAGTGCTGCTCTGAACACTTGTGTACAAATATCTGTTCGAGTCCCTGCTTTCAATTCTTTTGGATGGGCTCAATGCTTGTTTGCACATTTAGGGAAACTGAGGCTCAGAACAAGGTGGGGGGGGCTTGACTGTCCTTACCTGATACAACATAGCCCATTAGGCTCAAAGTCAGGCCTCGAACCAGCCCAGTTACCCCCTAAGACTCTCAGCAACAAGACCAAGCATGAGCTTTGAAGACCGTGCATCTTCTTTTCCCCTGGGGACAGGCAATTGGGTTCACGTTAAAGCTGGAAGTTAAGAAGAGTGGTCAGAAC
|
GGAAAGTGGAGGGATCCGGGTGTGGGTGGAGGGAGGGGCAGGCTGGCAGGTGAGCACCTGGGGTGTTGCCTGTACCAGGTGAACCCCCCAGACCTGATGAGCTGCCTGACTAGCCGCACCCTCATCACCCGCGGGGAGACGGTGTCCACCCCACTGAGCAGGGAACAGGCACTGGACGTGCGCGACGCCTTCGTAAAGGTGGGCTGGAGGGAAGGGGCCGCTTGCTCGCCCTACCCCTTGGGAAGTTGGGCTCTTGATGGGCAGGTGCCAAGGAGTCCTGGGAGGTGGGTAGACATCTGGGTCGCCACCCCTGCCTGCCCCGGGGCTGCAGTCGGCCTTCCTTGAGTCCCAGGTGCCCATGCTCCTCTGGGGCCTTCCCAGCTCTGGCCGCCCCAGGCCCTTGGCTTTTGGCCTGCTTTGGTCAGCCATGTTGTTCCCAGCCCAGGGATACTCTCTTTGGTCTCTTTGCAGAAGACACAGAAGAGGGGATCTAGGTCAGGTCCTGTTTCTACAACCACACGTTTGCCATTCATCGAGCCTTCACCCACCACACCAGGCCCTGGGCTGGGTTCGGGGACCTCAGAGATAAACAGGGTTGGACATAGAGATGAGAGCCCCAAGGAGGGCTCCTTCCCCTGCTGCATGGTCAGGGAAGGCTTCTCCAAGAGGAGCTGTTATCTCAACAGAGCCTTGAAAAATGTGTAGGAACTGTTCAAGCAGGAAAAGGGGTCTCCAGGCAGAGGGAACAGCTCAAGTAAAGGGTTGGGGGTTTCACACGGCACTTTGTTCCACACAAGGGCTGGAGCGACACCACGAAGGGTCCAGGAGCCTGGCCTGTCCCCCGGGGGAGGGTGTGGCTGGTGCCAGTGGCTGATCACTGCCTTTCAGGGGATCTACGGGCGGCTGTTCGTGTGGATTGTGGACAAGATCAACGCAGCAATTTACAAGCCTCCCTCCCAGGATGTGAAGAACTCTCGCAGGTCCATCGGCCTCCTGGACATCTTTGGGTTTGAGAACTTTGCTGTGAACAGGTACCGCGTGGGGCTCTGCTCATGGGAATTTCCTTCCCCAATATGGAAATAAGAAATATCACGTCTCTCCCTTGCGAAGCACATTTAGTTGGCTCCTGGCACACTCTGCCAGGCTGTTCCGTCATCACGGTGGACCCTCTCCCTTTCCTTCCCATCCCCTCGTGTCCCTCACCTCCTCAAGGTCAGCTGAGCCTGGCTGGGGTTGTCAGGAGGCTGTACGCATCCTGAACACTTGGGGAGGAAACCTCTGGTCTCCAGGACCCACTGGCCACTGCCGATCTGCCCAGATCCATGCTGCAAGGCGCCTCAAAGCAGGGAGGCCAGGCCTGTGCCACGCTTGTGTTGGGGTCTCCGCCACCCTTGGGATTCTGTGCCTTTTAGGGGCCGTGTGAGGGACTGATGGGTGGTGTCACATACAGGCGGGTCCTGGAGCCCCACTTCCTGCTGGAAAGTCAGGACCTGGCAAGTCATATCAGTTCCCTTGCTGTTTGGATGTCTCAAAGCCCTCCAGCACCAAAACACCCACACTCAACATACTGGGCTGTGTCCGTGGCTCGGCCATGTCTGCAGCCAGGGCTCTGTTTCCCAAGTCTTGTCAACCCCCTTCCCACCTCCCAAGGCCACTTTTGATGTCCCTGTATGGCCCACCAGCCAGCCTCTGGGGTCTTTCTCTCCCAGGCATCTGCCTGGGGTTTGGGTGCCCACCTGCCAATCCCCAGCCCTCCCCAGGGCTTGATCATGCCAGGGAAAGAGTCCTGAAAAGCCTTAGCTCTCCTTCTGGCTCACAGAGTGACCCTAGGCAAGTCCTTTGCCCTTGCTGGGCCTCCGTGTCCTCCTCTGCACCTGGAGGGAGGTGGACTTGACAATTCCCCTCGCCTCTGAGTTTGGAGTCCATGATGGGGATAGCTTGCTAATGGCCATGCTGCAGGTGGAGGCAGAGCCAGGCCCTGAACAGCATGGTGGGGCCTGAACAACACCCTTACCCCATCCCTGTGCCCCTGCAGCTTTGAGCAGCTCCGCATCAACTTCGCCAATGAGCACCTGCAGCAGTTCTTTGTGCGGCACGTGTTCAAGCTGGAGCAGGAGGAATATGACCTGGAGAGCATTGACTGGCTGCACATCGAGTTCACTGACAACCAGGATGCCCTGGACATGATTGCCAACAAGCCCATGAACATCATCTCCCTCATCGATGAGGAGAGCAAGTTCCCCAAGGTGGGCCGGTCCTGCTGCCGCCTCCCAGGGTCTTGGGTGCGCACAGCTTCCTTCCCTGCTTTGAGCCCCGGCTTTCCTCATCTGCAAAATAGGACTAATGATACCCACCTCTCAAGTTGGCTCAGGGGCCAATTCAAGTATAGGCATCTGCCATTTGGGAATCACCTACAGTCCATGGGGTTCTGGGCCAGGCCATGAAGATCCATGCATGCAGTTGGCATGGAATGGGTACTCAGGACACAGTGTATATCTCAGAGTTGGGGAGGGGGAGAGGGGATTGCACCCATGATTTTAATCTTGGGAAATCGATTGTCTAAACTGGAATGCACTTTCAAAGTTGTGTAGTTCCAATTCATCCACTTAACAGATGGGGAAATGGGGTTCCAGAGAGCGCCTATGTGAGGTAGAAATAAAAGGAGGGGAAGCTCCTGAAGAAGAGACAGGGGGCAAAGACATGGGCAGGGAGGGGAGTGGGGCCCATGGAGGAGAGGGTGGGCTCACAGCTGCCCCTCCACTCCCCAGGGCACAGACACCACCATGTTACACAAGCTGAACTCCCAGCACAAGCTCAACGCCAACTACATCCCCCCCAAGAACAACCATGAGACCCAGTTTGGCATCAACCATTTTGCAGGCATCGTCTACTATGAGACCCAAGGTACAGAGGGCTGCCGGCTGTCTGTCACTCCCTGCCCGTGGCCCTGCCTTCCCCTGCTCCAGCCCAGGAATAAGATATCCGGAATTTTAAAGATTTTTAAAAATTGTGATTATTCATATATATATATATATGAACTTGACTAAAATGGCCAAGTGTTGGATTCAGTGGCACTAAGTACTTCACAGTGCTGTGCATCCAGTACTGCTATCTATTTCCAGGGCTTTCTCACCGCCCCAAACAGAGGCTCTGCAAGCATGGGGCAGTAACTCCTTCCCCTACCCCCGGCCCCCTGTAACCTGTGTTCTACTTTCTGTCTGTGAGTTTGACTATTCTAGGTACCTCATATAAGTGGAATCATATGCTATGGCCATACATCGTTTAACGTCATTTCTGAGAATGTGTCGTTAGGCAATTTGGTCATTGTCAATCATTGTAGAGTGTAGTTATACACCTAGATGGTCCAGCCTACTACATAGCTAGGTTATCTGGTATGGCCTATTGCCCTCAGGCTACAGACCTGTACAGCATGTTCTTGTACTAAATACTGTAGGCAGTTGTGACAGAATGGTAAGTATTTGTGCATTTAAACATAGAAAAGGTAAAGTAAAAATACGTCATTACCATCTTAGCCACCACTATTGTATCTGCAGTTGGCTGAGATGTCATTCTGTGGTGAAGACGTGACTGTATTTGTCCTTTTGTGTCTGGCTTGTTTCATTCAGCGTAATGTCTTTAATTTTCATCCACGTTGTAGCATGTATCAATTGCCCTCATTTTTATGGCTGAATAGTATTTCGTTGTGTGGATAAACCTTTTGTTTATCCATTTATCTGCTAATGGACTTTTGGGGTTGTTTCTACCTTTTGACTTTTGTGAATAGTGCTGCTCTGAACACTTGTGTACAAATATCTGTTCGAGTCCCTGCTTTCAATTCTTTTGGATGGGCTCAATGCTTGTTTGCACATTTAGGGAAACTGAGGCTCAGAACAAGGTGGGGGGGGCTTGACTGTCCTTACCTGATACAACATAGCCCATTAGGCTCAAAGTCAGGCCTCGAACCAGCCCAGTTACCCCCTAAGACTCTCAGCAACAAGACCAAGCATGAGCTTTGAAGACCGTGCATCTTCTTTTCCCCTGGGGACAGGCAATTGGGTTCACGTTAAAGCTGGAAGTTAAGAAGAGTGGTCAGAAC
|
Task1_train_16326
|
This variant affects the gene MYO7A (myosin VIIA) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
|
Pathogenic; not provided
|
CGGGTGTGGGTGGAGGGAGGGGCAGGCTGGCAGGTGAGCACCTGGGGTGTTGCCTGTACCAGGTGAACCCCCCAGACCTGATGAGCTGCCTGACTAGCCGCACCCTCATCACCCGCGGGGAGACGGTGTCCACCCCACTGAGCAGGGAACAGGCACTGGACGTGCGCGACGCCTTCGTAAAGGTGGGCTGGAGGGAAGGGGCCGCTTGCTCGCCCTACCCCTTGGGAAGTTGGGCTCTTGATGGGCAGGTGCCAAGGAGTCCTGGGAGGTGGGTAGACATCTGGGTCGCCACCCCTGCCTGCCCCGGGGCTGCAGTCGGCCTTCCTTGAGTCCCAGGTGCCCATGCTCCTCTGGGGCCTTCCCAGCTCTGGCCGCCCCAGGCCCTTGGCTTTTGGCCTGCTTTGGTCAGCCATGTTGTTCCCAGCCCAGGGATACTCTCTTTGGTCTCTTTGCAGAAGACACAGAAGAGGGGATCTAGGTCAGGTCCTGTTTCTACAACCACACGTTTGCCATTCATCGAGCCTTCACCCACCACACCAGGCCCTGGGCTGGGTTCGGGGACCTCAGAGATAAACAGGGTTGGACATAGAGATGAGAGCCCCAAGGAGGGCTCCTTCCCCTGCTGCATGGTCAGGGAAGGCTTCTCCAAGAGGAGCTGTTATCTCAACAGAGCCTTGAAAAATGTGTAGGAACTGTTCAAGCAGGAAAAGGGGTCTCCAGGCAGAGGGAACAGCTCAAGTAAAGGGTTGGGGGTTTCACACGGCACTTTGTTCCACACAAGGGCTGGAGCGACACCACGAAGGGTCCAGGAGCCTGGCCTGTCCCCCGGGGGAGGGTGTGGCTGGTGCCAGTGGCTGATCACTGCCTTTCAGGGGATCTACGGGCGGCTGTTCGTGTGGATTGTGGACAAGATCAACGCAGCAATTTACAAGCCTCCCTCCCAGGATGTGAAGAACTCTCGCAGGTCCATCGGCCTCCTGGACATCTTTGGGTTTGAGAACTTTGCTGTGAACAGGTACCGCGTGGGGCTCTGCTCATGGGAATTTCCTTCCCCAATATGGAAATAAGAAATATCACGTCTCTCCCTTGCGAAGCACATTTAGTTGGCTCCTGGCACACTCTGCCAGGCTGTTCCGTCATCACGGTGGACCCTCTCCCTTTCCTTCCCATCCCCTCGTGTCCCTCACCTCCTCAAGGTCAGCTGAGCCTGGCTGGGGTTGTCAGGAGGCTGTACGCATCCTGAACACTTGGGGAGGAAACCTCTGGTCTCCAGGACCCACTGGCCACTGCCGATCTGCCCAGATCCATGCTGCAAGGCGCCTCAAAGCAGGGAGGCCAGGCCTGTGCCACGCTTGTGTTGGGGTCTCCGCCACCCTTGGGATTCTGTGCCTTTTAGGGGCCGTGTGAGGGACTGATGGGTGGTGTCACATACAGGCGGGTCCTGGAGCCCCACTTCCTGCTGGAAAGTCAGGACCTGGCAAGTCATATCAGTTCCCTTGCTGTTTGGATGTCTCAAAGCCCTCCAGCACCAAAACACCCACACTCAACATACTGGGCTGTGTCCGTGGCTCGGCCATGTCTGCAGCCAGGGCTCTGTTTCCCAAGTCTTGTCAACCCCCTTCCCACCTCCCAAGGCCACTTTTGATGTCCCTGTATGGCCCACCAGCCAGCCTCTGGGGTCTTTCTCTCCCAGGCATCTGCCTGGGGTTTGGGTGCCCACCTGCCAATCCCCAGCCCTCCCCAGGGCTTGATCATGCCAGGGAAAGAGTCCTGAAAAGCCTTAGCTCTCCTTCTGGCTCACAGAGTGACCCTAGGCAAGTCCTTTGCCCTTGCTGGGCCTCCGTGTCCTCCTCTGCACCTGGAGGGAGGTGGACTTGACAATTCCCCTCGCCTCTGAGTTTGGAGTCCATGATGGGGATAGCTTGCTAATGGCCATGCTGCAGGTGGAGGCAGAGCCAGGCCCTGAACAGCATGGTGGGGCCTGAACAACACCCTTACCCCATCCCTGTGCCCCTGCAGCTTTGAGCAGCTCTGCATCAACTTCGCCAATGAGCACCTGCAGCAGTTCTTTGTGCGGCACGTGTTCAAGCTGGAGCAGGAGGAATATGACCTGGAGAGCATTGACTGGCTGCACATCGAGTTCACTGACAACCAGGATGCCCTGGACATGATTGCCAACAAGCCCATGAACATCATCTCCCTCATCGATGAGGAGAGCAAGTTCCCCAAGGTGGGCCGGTCCTGCTGCCGCCTCCCAGGGTCTTGGGTGCGCACAGCTTCCTTCCCTGCTTTGAGCCCCGGCTTTCCTCATCTGCAAAATAGGACTAATGATACCCACCTCTCAAGTTGGCTCAGGGGCCAATTCAAGTATAGGCATCTGCCATTTGGGAATCACCTACAGTCCATGGGGTTCTGGGCCAGGCCATGAAGATCCATGCATGCAGTTGGCATGGAATGGGTACTCAGGACACAGTGTATATCTCAGAGTTGGGGAGGGGGAGAGGGGATTGCACCCATGATTTTAATCTTGGGAAATCGATTGTCTAAACTGGAATGCACTTTCAAAGTTGTGTAGTTCCAATTCATCCACTTAACAGATGGGGAAATGGGGTTCCAGAGAGCGCCTATGTGAGGTAGAAATAAAAGGAGGGGAAGCTCCTGAAGAAGAGACAGGGGGCAAAGACATGGGCAGGGAGGGGAGTGGGGCCCATGGAGGAGAGGGTGGGCTCACAGCTGCCCCTCCACTCCCCAGGGCACAGACACCACCATGTTACACAAGCTGAACTCCCAGCACAAGCTCAACGCCAACTACATCCCCCCCAAGAACAACCATGAGACCCAGTTTGGCATCAACCATTTTGCAGGCATCGTCTACTATGAGACCCAAGGTACAGAGGGCTGCCGGCTGTCTGTCACTCCCTGCCCGTGGCCCTGCCTTCCCCTGCTCCAGCCCAGGAATAAGATATCCGGAATTTTAAAGATTTTTAAAAATTGTGATTATTCATATATATATATATATGAACTTGACTAAAATGGCCAAGTGTTGGATTCAGTGGCACTAAGTACTTCACAGTGCTGTGCATCCAGTACTGCTATCTATTTCCAGGGCTTTCTCACCGCCCCAAACAGAGGCTCTGCAAGCATGGGGCAGTAACTCCTTCCCCTACCCCCGGCCCCCTGTAACCTGTGTTCTACTTTCTGTCTGTGAGTTTGACTATTCTAGGTACCTCATATAAGTGGAATCATATGCTATGGCCATACATCGTTTAACGTCATTTCTGAGAATGTGTCGTTAGGCAATTTGGTCATTGTCAATCATTGTAGAGTGTAGTTATACACCTAGATGGTCCAGCCTACTACATAGCTAGGTTATCTGGTATGGCCTATTGCCCTCAGGCTACAGACCTGTACAGCATGTTCTTGTACTAAATACTGTAGGCAGTTGTGACAGAATGGTAAGTATTTGTGCATTTAAACATAGAAAAGGTAAAGTAAAAATACGTCATTACCATCTTAGCCACCACTATTGTATCTGCAGTTGGCTGAGATGTCATTCTGTGGTGAAGACGTGACTGTATTTGTCCTTTTGTGTCTGGCTTGTTTCATTCAGCGTAATGTCTTTAATTTTCATCCACGTTGTAGCATGTATCAATTGCCCTCATTTTTATGGCTGAATAGTATTTCGTTGTGTGGATAAACCTTTTGTTTATCCATTTATCTGCTAATGGACTTTTGGGGTTGTTTCTACCTTTTGACTTTTGTGAATAGTGCTGCTCTGAACACTTGTGTACAAATATCTGTTCGAGTCCCTGCTTTCAATTCTTTTGGATGGGCTCAATGCTTGTTTGCACATTTAGGGAAACTGAGGCTCAGAACAAGGTGGGGGGGGCTTGACTGTCCTTACCTGATACAACATAGCCCATTAGGCTCAAAGTCAGGCCTCGAACCAGCCCAGTTACCCCCTAAGACTCTCAGCAACAAGACCAAGCATGAGCTTTGAAGACCGTGCATCTTCTTTTCCCCTGGGGACAGGCAATTGGGTTCACGTTAAAGCTGGAAGTTAAGAAGAGTGGTCAGAACACAGGCTTATCTCACC
|
CGGGTGTGGGTGGAGGGAGGGGCAGGCTGGCAGGTGAGCACCTGGGGTGTTGCCTGTACCAGGTGAACCCCCCAGACCTGATGAGCTGCCTGACTAGCCGCACCCTCATCACCCGCGGGGAGACGGTGTCCACCCCACTGAGCAGGGAACAGGCACTGGACGTGCGCGACGCCTTCGTAAAGGTGGGCTGGAGGGAAGGGGCCGCTTGCTCGCCCTACCCCTTGGGAAGTTGGGCTCTTGATGGGCAGGTGCCAAGGAGTCCTGGGAGGTGGGTAGACATCTGGGTCGCCACCCCTGCCTGCCCCGGGGCTGCAGTCGGCCTTCCTTGAGTCCCAGGTGCCCATGCTCCTCTGGGGCCTTCCCAGCTCTGGCCGCCCCAGGCCCTTGGCTTTTGGCCTGCTTTGGTCAGCCATGTTGTTCCCAGCCCAGGGATACTCTCTTTGGTCTCTTTGCAGAAGACACAGAAGAGGGGATCTAGGTCAGGTCCTGTTTCTACAACCACACGTTTGCCATTCATCGAGCCTTCACCCACCACACCAGGCCCTGGGCTGGGTTCGGGGACCTCAGAGATAAACAGGGTTGGACATAGAGATGAGAGCCCCAAGGAGGGCTCCTTCCCCTGCTGCATGGTCAGGGAAGGCTTCTCCAAGAGGAGCTGTTATCTCAACAGAGCCTTGAAAAATGTGTAGGAACTGTTCAAGCAGGAAAAGGGGTCTCCAGGCAGAGGGAACAGCTCAAGTAAAGGGTTGGGGGTTTCACACGGCACTTTGTTCCACACAAGGGCTGGAGCGACACCACGAAGGGTCCAGGAGCCTGGCCTGTCCCCCGGGGGAGGGTGTGGCTGGTGCCAGTGGCTGATCACTGCCTTTCAGGGGATCTACGGGCGGCTGTTCGTGTGGATTGTGGACAAGATCAACGCAGCAATTTACAAGCCTCCCTCCCAGGATGTGAAGAACTCTCGCAGGTCCATCGGCCTCCTGGACATCTTTGGGTTTGAGAACTTTGCTGTGAACAGGTACCGCGTGGGGCTCTGCTCATGGGAATTTCCTTCCCCAATATGGAAATAAGAAATATCACGTCTCTCCCTTGCGAAGCACATTTAGTTGGCTCCTGGCACACTCTGCCAGGCTGTTCCGTCATCACGGTGGACCCTCTCCCTTTCCTTCCCATCCCCTCGTGTCCCTCACCTCCTCAAGGTCAGCTGAGCCTGGCTGGGGTTGTCAGGAGGCTGTACGCATCCTGAACACTTGGGGAGGAAACCTCTGGTCTCCAGGACCCACTGGCCACTGCCGATCTGCCCAGATCCATGCTGCAAGGCGCCTCAAAGCAGGGAGGCCAGGCCTGTGCCACGCTTGTGTTGGGGTCTCCGCCACCCTTGGGATTCTGTGCCTTTTAGGGGCCGTGTGAGGGACTGATGGGTGGTGTCACATACAGGCGGGTCCTGGAGCCCCACTTCCTGCTGGAAAGTCAGGACCTGGCAAGTCATATCAGTTCCCTTGCTGTTTGGATGTCTCAAAGCCCTCCAGCACCAAAACACCCACACTCAACATACTGGGCTGTGTCCGTGGCTCGGCCATGTCTGCAGCCAGGGCTCTGTTTCCCAAGTCTTGTCAACCCCCTTCCCACCTCCCAAGGCCACTTTTGATGTCCCTGTATGGCCCACCAGCCAGCCTCTGGGGTCTTTCTCTCCCAGGCATCTGCCTGGGGTTTGGGTGCCCACCTGCCAATCCCCAGCCCTCCCCAGGGCTTGATCATGCCAGGGAAAGAGTCCTGAAAAGCCTTAGCTCTCCTTCTGGCTCACAGAGTGACCCTAGGCAAGTCCTTTGCCCTTGCTGGGCCTCCGTGTCCTCCTCTGCACCTGGAGGGAGGTGGACTTGACAATTCCCCTCGCCTCTGAGTTTGGAGTCCATGATGGGGATAGCTTGCTAATGGCCATGCTGCAGGTGGAGGCAGAGCCAGGCCCTGAACAGCATGGTGGGGCCTGAACAACACCCTTACCCCATCCCTGTGCCCCTGCAGCTTTGAGCAGCTCTGCATCAACTTCGCCATTGAGCACCTGCAGCAGTTCTTTGTGCGGCACGTGTTCAAGCTGGAGCAGGAGGAATATGACCTGGAGAGCATTGACTGGCTGCACATCGAGTTCACTGACAACCAGGATGCCCTGGACATGATTGCCAACAAGCCCATGAACATCATCTCCCTCATCGATGAGGAGAGCAAGTTCCCCAAGGTGGGCCGGTCCTGCTGCCGCCTCCCAGGGTCTTGGGTGCGCACAGCTTCCTTCCCTGCTTTGAGCCCCGGCTTTCCTCATCTGCAAAATAGGACTAATGATACCCACCTCTCAAGTTGGCTCAGGGGCCAATTCAAGTATAGGCATCTGCCATTTGGGAATCACCTACAGTCCATGGGGTTCTGGGCCAGGCCATGAAGATCCATGCATGCAGTTGGCATGGAATGGGTACTCAGGACACAGTGTATATCTCAGAGTTGGGGAGGGGGAGAGGGGATTGCACCCATGATTTTAATCTTGGGAAATCGATTGTCTAAACTGGAATGCACTTTCAAAGTTGTGTAGTTCCAATTCATCCACTTAACAGATGGGGAAATGGGGTTCCAGAGAGCGCCTATGTGAGGTAGAAATAAAAGGAGGGGAAGCTCCTGAAGAAGAGACAGGGGGCAAAGACATGGGCAGGGAGGGGAGTGGGGCCCATGGAGGAGAGGGTGGGCTCACAGCTGCCCCTCCACTCCCCAGGGCACAGACACCACCATGTTACACAAGCTGAACTCCCAGCACAAGCTCAACGCCAACTACATCCCCCCCAAGAACAACCATGAGACCCAGTTTGGCATCAACCATTTTGCAGGCATCGTCTACTATGAGACCCAAGGTACAGAGGGCTGCCGGCTGTCTGTCACTCCCTGCCCGTGGCCCTGCCTTCCCCTGCTCCAGCCCAGGAATAAGATATCCGGAATTTTAAAGATTTTTAAAAATTGTGATTATTCATATATATATATATATGAACTTGACTAAAATGGCCAAGTGTTGGATTCAGTGGCACTAAGTACTTCACAGTGCTGTGCATCCAGTACTGCTATCTATTTCCAGGGCTTTCTCACCGCCCCAAACAGAGGCTCTGCAAGCATGGGGCAGTAACTCCTTCCCCTACCCCCGGCCCCCTGTAACCTGTGTTCTACTTTCTGTCTGTGAGTTTGACTATTCTAGGTACCTCATATAAGTGGAATCATATGCTATGGCCATACATCGTTTAACGTCATTTCTGAGAATGTGTCGTTAGGCAATTTGGTCATTGTCAATCATTGTAGAGTGTAGTTATACACCTAGATGGTCCAGCCTACTACATAGCTAGGTTATCTGGTATGGCCTATTGCCCTCAGGCTACAGACCTGTACAGCATGTTCTTGTACTAAATACTGTAGGCAGTTGTGACAGAATGGTAAGTATTTGTGCATTTAAACATAGAAAAGGTAAAGTAAAAATACGTCATTACCATCTTAGCCACCACTATTGTATCTGCAGTTGGCTGAGATGTCATTCTGTGGTGAAGACGTGACTGTATTTGTCCTTTTGTGTCTGGCTTGTTTCATTCAGCGTAATGTCTTTAATTTTCATCCACGTTGTAGCATGTATCAATTGCCCTCATTTTTATGGCTGAATAGTATTTCGTTGTGTGGATAAACCTTTTGTTTATCCATTTATCTGCTAATGGACTTTTGGGGTTGTTTCTACCTTTTGACTTTTGTGAATAGTGCTGCTCTGAACACTTGTGTACAAATATCTGTTCGAGTCCCTGCTTTCAATTCTTTTGGATGGGCTCAATGCTTGTTTGCACATTTAGGGAAACTGAGGCTCAGAACAAGGTGGGGGGGGCTTGACTGTCCTTACCTGATACAACATAGCCCATTAGGCTCAAAGTCAGGCCTCGAACCAGCCCAGTTACCCCCTAAGACTCTCAGCAACAAGACCAAGCATGAGCTTTGAAGACCGTGCATCTTCTTTTCCCCTGGGGACAGGCAATTGGGTTCACGTTAAAGCTGGAAGTTAAGAAGAGTGGTCAGAACACAGGCTTATCTCACC
|
Task1_train_16327
|
This variant impacts the gene MYO7A (myosin VIIA) on Chromosome 11. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; Autosomal recessive nonsyndromic hearing loss 2
|
TCTTTTCCCCTGGGGACAGGCAATTGGGTTCACGTTAAAGCTGGAAGTTAAGAAGAGTGGTCAGAACACAGGCTTATCTCACCTGGAATTCTTAAGGGTTTGTCAAAAGACTGCAGACTGCCCTTGCCAATCCCTCCCCACCCACCCTGGTGTAAAGGGCCAACCACAAATTGGCATTAGTTATGGGCTGTGTCTACCCTGAGCCCTGCCATACAGCCTCAAGGGGTCCCATGCATAGTCAAAGGCCAATTAACCCATAAATATCTATACCTACTATGTACCACAAAAAATTAAAAATTAATTTTTTTTTAAAAAAGGCCAAAGATATCCAAACATGCTATAACCCATCCGTTTCTTACTCCGTTGCTGAACTGGTCCAGAAGTCAGCAGTGTATCAGTGAGCCAGGCTGCAGTGGTAGAATCTGATGGCGGCTCAGATTCCCTTACAATATTGGACTGTGAGATCCAACCTTATTGTTGGAAGAAGGAAGCAGACATTAAGTTTGAAGGACTGTCACGCAAACAAATTGGTCTTTCATTTGGAGTAATAGAGGATTGTATTTCTCAGTTCAGTTCAACCAATATGCTCTTAGCATCTATTATGTACCAGGCTTCATGACGTTGCTGAGGATACAGAAGTGAAAATTGAATAATCTCTATGCTGAGTTGTAAAACTATAGAACGCCAGGTCTGGAGGGAACATAAGGGTCATCTACCTTAATAGAATTGGTAACTGAAGCCCAGAAAGGGAAATGGCTTGCCTAAGGTTGTTAAACAAGACTAAATGACTGGAAAGAATTCTACCAGCATTTTCTAGTTCACAAAGAACCTTTTCAATACAGCGTCTTATTTATGATGTGGATTTATGAAGTGGGTGGTATTAGGTGTTCTGAAGAGAAGCAAGCTTGTAGGCACTATCCTTCCCATCCAACAGTTAAGGAAACTGGAGTCCCAGAATGGGGGTCTTTCTAGGATAACATAGTGAGTCTGTCAGAGCTTTAGTGAGAACCCAATTACATCCCAACTGCAAAGCCCACCCTCCATTCCTGTGTGTCCCCTGCAACTCGCCCCTCCCCAGGTGCCAGGCGGGCAGCCTAGCACTGGATCTCTGTGCTGTCCGCCATTCATGGGCAGCCTATGTCCTGCTCTGTGCAGTGGCACTCCCCCTCTGGCATCTGCAGTCCTTGGACACCCCGTCTCTTGCCCCACTCTACAACCCCCTCCCCATTAACCAGTTTCCAACTCCTCGGTCCCTGTGAGTGGCAGCCTCCTCTGGGGTCTGTGTGGTGCAGGGGAATCTCCCTAGGCTCCTGGGGATCCTGGGTTCTGGGTGCAGAGAATCTCCTTTGCACCAGCGTCCTGGGTTCAAGTCTTAACTCTGCCCATGGCTTACTGTGTGACATTAGACAACTCACTTAGCTTCTCTGAACATCAGTTTTCTCCCTTTGGGGGCAGAGGAGGTAATCCCTACCTGTCCCACATAGAAGGAGCTGTGAGGGGTCTTCATAAAACATAACACACTGTCCAACCACAAGGTGGTTTTAATGAATTCCTTTAATATTAGCTTGTACCAGATCAACATGCATTCTCTCCCAGGTGACACACTTACTTAACAAGGCCTTTTGATATCTTAGTTCAAAAGACTCATGGTAGCTTTGGGGTGGTTGGTCAGGAAGGAGGCCTGCTTTCTCCTGGAGACTGAGACCCCCCTGCCCTTCTTGAACAGGCCTGGAAGAGGGGAGCTGTGTCACTGGGGAGATGGCCCCTCACTTTCTCTATGATCTTGGGCAAGTCTCTGTCCCCTCCAGGCCTCAGGGCCCCCGTCATGAAATGGATGTGGTGGAACTAGGTGGATTTTGAGGGTCCTCCTGGCTCAGATGTTATGGGTTTGGGGAGGGCCTGCCAGAGCTGGTGAGAGGTGACTGCTGTTTGCTGCTTGCAGGCTTCCTGGAGAAGAACCGAGACACCCTGCATGGGGACATTATCCAGCTGGTCCACTCCTCCAGGAACAAGTTCATCAAGCAGATCTTCCAGGCCGATGTCGCCATGGTAAGCCGGGTGCGGTTTCTGTTGTTCGGGAAGGGCCCCCACGGGCCAGGCCTGAGTCTAAGCCCTGCCCTTGTCCAACAGCTTCAGCTGAGCCCCCTGGCCACATAATGGGTATGGAGCTTTGCTGTGGCTCCAGGAGGGGCCTGGAGGGGCCTCAAAGGTGTTCCCATCTGGTCCTCTTATTGTACTAACTGGGGATATGGCTGGGGTGCAAGGCCCAGAGAAGGGTCACCTGAGAGGTCACAGAGCAGAACCGGTCAGGGATCGGTTTACTGTGGGGGTTCACCCCCTGGAATCCAGCTGCTAAAGAGAGCATGGGCAGAAAGAGCACATCCAGCTTGAAGGATGTGGGGTGGGTGTGGATACTCAGAGAAGCTGGCACAGAGGGCATGTCTGTGCCAGCCCCAGACCCCATCAGACAGTGGGAGAACAGCCCCCTCCGCCTTTCCTTAGGCCCTAGGGTGAGGGTCTAGTGGATTTTTTCCTGCTGGGTTGCATGCCTTTTTATTTCATATTTTCCTCCTGTCCCATGGCTTCCTGGAGGGTGCATGAAGTCCTCACGCAGAAGACAGTCCTTGCCCCTTCCATGCCTGTCTAGGTGCCTGGCTGTCCCCTGCCCTCAGGACCACCAAGGCATCACAGAGCTTCCAGGACCCCAGACCTCTCCCTGAGGGTCCCCCTCTCTCCATGGTGGATTTTGAGTGGTTTTGTGACCCACCACATTCTCCTTGCCCCTCCTCTCCCCATCTCACCCTGCACCGTGGTTCCTGTTGTAGTTTCTCTGTGGTTATTCATCGGGTACTCTGCGCCACTCAGCAGCTGCTGCGAAGGTAAAAGACCCCAGCCCGGGGCTGAGGATGGCGGGAGAGGCCTCAGCGGCCTGGGTGGGGCTTGGTCCCGAGCTCCCACTGTGCTGAGACTCGGGAAAAGGGCTGGGCTTTTTCTCCTTTTTTTTGGAGTGTGTTTTTGTGTGGAGTGGTTTGTGGAGTGATTTTTGTGTTTGGTTTTTGAGTTGTGTGTGCTGCAGGCATTTCTTTCTTCAAGGAGGAAACTGAGTCCTAGGAGAGGGGCAAGGCTTGCCCAGGGTCCTCTGGGAACCGGGGACAGAGTGGGGACTCGAACGCAGGTCTCCTAAGGCCCCTTGGAGGCGTCAATCCCCGGTCCTTCCACCAGGCCCTGGTGGGCGCCTATGGCCATGCCTTGACCAGATCCTCAGATAACCTTGCAAGGCAGGAGGGACAGGTAGCATTTTCTGCATTTTGCAGATGAGAGACTGAGGCTGAGAGAGGGGATATGACTCATTCCAGGTAACAGCATTCTGACAGGGAGCTGGGACTAGGAGACACCATTCCCCGGACCTCCTTAGGTCTGAAACAGCAGCCCTGTTGCATCCTGAACTCTGGTTCAGGCCGTGGCTCCCACGGTGCTCTAGACCCCAAAGGTGCTGGGTACCCCTTAGCAACAGCATGGTGCTGCCAACCCCTTTGCCTCCTTTTCTCTCCTCAGCCCTCCATTTCCTCTCTGCCAAATACTGACATCCTTCCACTTTGGCCTGGTGCTGAGTCCTTCTTCCTTCCTGCCTGCCTGGCAGAGTTCTGAAACAATCCACACACCCCCAGCAGTAGACAGGGCATGTCAGGAGCAAGGAGCTTGTCTGGATGGTGGCCTCTCCCCTCTGCCCACAGATCAGCCCTGGAAGAACCTCCCGCCCCCACTCACCCTGACAGACCAACACTGTAGGCTGGCCGACTGCTGGGGTGCACACAAGGCCAACCTGAGAGAGGGGAGTCCCAGGCACTCGAAGCACTGGCACCCAGGAGAGTCCCCACCCGAAAGCCCTGTGCTGTAAGGTGGCTGTACTGCTGAGACGGGCGTAGCTCTGGCCTCTCCCACTCTTTCCTCTTCTCCTGTAGCCCTGCTGGCCCCTCGCTGGGCCCATCCATTCCTCCTGGTCTTGGGCATACTCTGGTTAAACCCCATCTTCCCCTCCTACCCGTTCTTCTCTCTCCTCTGTCTTTTCAAAGCTCCTTGAGGCATCTGGGAACAC
|
TCTTTTCCCCTGGGGACAGGCAATTGGGTTCACGTTAAAGCTGGAAGTTAAGAAGAGTGGTCAGAACACAGGCTTATCTCACCTGGAATTCTTAAGGGTTTGTCAAAAGACTGCAGACTGCCCTTGCCAATCCCTCCCCACCCACCCTGGTGTAAAGGGCCAACCACAAATTGGCATTAGTTATGGGCTGTGTCTACCCTGAGCCCTGCCATACAGCCTCAAGGGGTCCCATGCATAGTCAAAGGCCAATTAACCCATAAATATCTATACCTACTATGTACCACAAAAAATTAAAAATTAATTTTTTTTTAAAAAAGGCCAAAGATATCCAAACATGCTATAACCCATCCGTTTCTTACTCCGTTGCTGAACTGGTCCAGAAGTCAGCAGTGTATCAGTGAGCCAGGCTGCAGTGGTAGAATCTGATGGCGGCTCAGATTCCCTTACAATATTGGACTGTGAGATCCAACCTTATTGTTGGAAGAAGGAAGCAGACATTAAGTTTGAAGGACTGTCACGCAAACAAATTGGTCTTTCATTTGGAGTAATAGAGGATTGTATTTCTCAGTTCAGTTCAACCAATATGCTCTTAGCATCTATTATGTACCAGGCTTCATGACGTTGCTGAGGATACAGAAGTGAAAATTGAATAATCTCTATGCTGAGTTGTAAAACTATAGAACGCCAGGTCTGGAGGGAACATAAGGGTCATCTACCTTAATAGAATTGGTAACTGAAGCCCAGAAAGGGAAATGGCTTGCCTAAGGTTGTTAAACAAGACTAAATGACTGGAAAGAATTCTACCAGCATTTTCTAGTTCACAAAGAACCTTTTCAATACAGCGTCTTATTTATGATGTGGATTTATGAAGTGGGTGGTATTAGGTGTTCTGAAGAGAAGCAAGCTTGTAGGCACTATCCTTCCCATCCAACAGTTAAGGAAACTGGAGTCCCAGAATGGGGGTCTTTCTAGGATAACATAGTGAGTCTGTCAGAGCTTTAGTGAGAACCCAATTACATCCCAACTGCAAAGCCCACCCTCCATTCCTGTGTGTCCCCTGCAACTCGCCCCTCCCCAGGTGCCAGGCGGGCAGCCTAGCACTGGATCTCTGTGCTGTCCGCCATTCATGGGCAGCCTATGTCCTGCTCTGTGCAGTGGCACTCCCCCTCTGGCATCTGCAGTCCTTGGACACCCCGTCTCTTGCCCCACTCTACAACCCCCTCCCCATTAACCAGTTTCCAACTCCTCGGTCCCTGTGAGTGGCAGCCTCCTCTGGGGTCTGTGTGGTGCAGGGGAATCTCCCTAGGCTCCTGGGGATCCTGGGTTCTGGGTGCAGAGAATCTCCTTTGCACCAGCGTCCTGGGTTCAAGTCTTAACTCTGCCCATGGCTTACTGTGTGACATTAGACAACTCACTTAGCTTCTCTGAACATCAGTTTTCTCCCTTTGGGGGCAGAGGAGGTAATCCCTACCTGTCCCACATAGAAGGAGCTGTGAGGGGTCTTCATAAAACATAACACACTGTCCAACCACAAGGTGGTTTTAATGAATTCCTTTAATATTAGCTTGTACCAGATCAACATGCATTCTCTCCCAGGTGACACACTTACTTAACAAGGCCTTTTGATATCTTAGTTCAAAAGACTCATGGTAGCTTTGGGGTGGTTGGTCAGGAAGGAGGCCTGCTTTCTCCTGGAGACTGAGACCCCCCTGCCCTTCTTGAACAGGCCTGGAAGAGGGGAGCTGTGTCACTGGGGAGATGGCCCCTCACTTTCTCTATGATCTTGGGCAAGTCTCTGTCCCCTCCAGGCCTCAGGGCCCCCGTCATGAAATGGATGTGGTGGAACTAGGTGGATTTTGAGGGTCCTCCTGGCTCAGATGTTATGGGTTTGGGGAGGGCCTGCCAGAGCTGGTGAGAGGTGACTGCTGTTTGCTGCTTGCAGGCTTCCTGGAGAAGAACCGAGACACCCTGCATGGGGACATTATCCAGCTGGTCCACTCCTCCAGGAACAAGTTCATCAAGCAGATCTTCCAGGCCGATGTCGCCATAGTAAGCCGGGTGCGGTTTCTGTTGTTCGGGAAGGGCCCCCACGGGCCAGGCCTGAGTCTAAGCCCTGCCCTTGTCCAACAGCTTCAGCTGAGCCCCCTGGCCACATAATGGGTATGGAGCTTTGCTGTGGCTCCAGGAGGGGCCTGGAGGGGCCTCAAAGGTGTTCCCATCTGGTCCTCTTATTGTACTAACTGGGGATATGGCTGGGGTGCAAGGCCCAGAGAAGGGTCACCTGAGAGGTCACAGAGCAGAACCGGTCAGGGATCGGTTTACTGTGGGGGTTCACCCCCTGGAATCCAGCTGCTAAAGAGAGCATGGGCAGAAAGAGCACATCCAGCTTGAAGGATGTGGGGTGGGTGTGGATACTCAGAGAAGCTGGCACAGAGGGCATGTCTGTGCCAGCCCCAGACCCCATCAGACAGTGGGAGAACAGCCCCCTCCGCCTTTCCTTAGGCCCTAGGGTGAGGGTCTAGTGGATTTTTTCCTGCTGGGTTGCATGCCTTTTTATTTCATATTTTCCTCCTGTCCCATGGCTTCCTGGAGGGTGCATGAAGTCCTCACGCAGAAGACAGTCCTTGCCCCTTCCATGCCTGTCTAGGTGCCTGGCTGTCCCCTGCCCTCAGGACCACCAAGGCATCACAGAGCTTCCAGGACCCCAGACCTCTCCCTGAGGGTCCCCCTCTCTCCATGGTGGATTTTGAGTGGTTTTGTGACCCACCACATTCTCCTTGCCCCTCCTCTCCCCATCTCACCCTGCACCGTGGTTCCTGTTGTAGTTTCTCTGTGGTTATTCATCGGGTACTCTGCGCCACTCAGCAGCTGCTGCGAAGGTAAAAGACCCCAGCCCGGGGCTGAGGATGGCGGGAGAGGCCTCAGCGGCCTGGGTGGGGCTTGGTCCCGAGCTCCCACTGTGCTGAGACTCGGGAAAAGGGCTGGGCTTTTTCTCCTTTTTTTTGGAGTGTGTTTTTGTGTGGAGTGGTTTGTGGAGTGATTTTTGTGTTTGGTTTTTGAGTTGTGTGTGCTGCAGGCATTTCTTTCTTCAAGGAGGAAACTGAGTCCTAGGAGAGGGGCAAGGCTTGCCCAGGGTCCTCTGGGAACCGGGGACAGAGTGGGGACTCGAACGCAGGTCTCCTAAGGCCCCTTGGAGGCGTCAATCCCCGGTCCTTCCACCAGGCCCTGGTGGGCGCCTATGGCCATGCCTTGACCAGATCCTCAGATAACCTTGCAAGGCAGGAGGGACAGGTAGCATTTTCTGCATTTTGCAGATGAGAGACTGAGGCTGAGAGAGGGGATATGACTCATTCCAGGTAACAGCATTCTGACAGGGAGCTGGGACTAGGAGACACCATTCCCCGGACCTCCTTAGGTCTGAAACAGCAGCCCTGTTGCATCCTGAACTCTGGTTCAGGCCGTGGCTCCCACGGTGCTCTAGACCCCAAAGGTGCTGGGTACCCCTTAGCAACAGCATGGTGCTGCCAACCCCTTTGCCTCCTTTTCTCTCCTCAGCCCTCCATTTCCTCTCTGCCAAATACTGACATCCTTCCACTTTGGCCTGGTGCTGAGTCCTTCTTCCTTCCTGCCTGCCTGGCAGAGTTCTGAAACAATCCACACACCCCCAGCAGTAGACAGGGCATGTCAGGAGCAAGGAGCTTGTCTGGATGGTGGCCTCTCCCCTCTGCCCACAGATCAGCCCTGGAAGAACCTCCCGCCCCCACTCACCCTGACAGACCAACACTGTAGGCTGGCCGACTGCTGGGGTGCACACAAGGCCAACCTGAGAGAGGGGAGTCCCAGGCACTCGAAGCACTGGCACCCAGGAGAGTCCCCACCCGAAAGCCCTGTGCTGTAAGGTGGCTGTACTGCTGAGACGGGCGTAGCTCTGGCCTCTCCCACTCTTTCCTCTTCTCCTGTAGCCCTGCTGGCCCCTCGCTGGGCCCATCCATTCCTCCTGGTCTTGGGCATACTCTGGTTAAACCCCATCTTCCCCTCCTACCCGTTCTTCTCTCTCCTCTGTCTTTTCAAAGCTCCTTGAGGCATCTGGGAACAC
|
Task1_train_16328
|
Consider a variant on Chromosome 11 in gene MYO7A (myosin VIIA). Determine its clinical classification and disease relevance.
|
Pathogenic; Usher syndrome type 1B
|
TCTTTTCCCCTGGGGACAGGCAATTGGGTTCACGTTAAAGCTGGAAGTTAAGAAGAGTGGTCAGAACACAGGCTTATCTCACCTGGAATTCTTAAGGGTTTGTCAAAAGACTGCAGACTGCCCTTGCCAATCCCTCCCCACCCACCCTGGTGTAAAGGGCCAACCACAAATTGGCATTAGTTATGGGCTGTGTCTACCCTGAGCCCTGCCATACAGCCTCAAGGGGTCCCATGCATAGTCAAAGGCCAATTAACCCATAAATATCTATACCTACTATGTACCACAAAAAATTAAAAATTAATTTTTTTTTAAAAAAGGCCAAAGATATCCAAACATGCTATAACCCATCCGTTTCTTACTCCGTTGCTGAACTGGTCCAGAAGTCAGCAGTGTATCAGTGAGCCAGGCTGCAGTGGTAGAATCTGATGGCGGCTCAGATTCCCTTACAATATTGGACTGTGAGATCCAACCTTATTGTTGGAAGAAGGAAGCAGACATTAAGTTTGAAGGACTGTCACGCAAACAAATTGGTCTTTCATTTGGAGTAATAGAGGATTGTATTTCTCAGTTCAGTTCAACCAATATGCTCTTAGCATCTATTATGTACCAGGCTTCATGACGTTGCTGAGGATACAGAAGTGAAAATTGAATAATCTCTATGCTGAGTTGTAAAACTATAGAACGCCAGGTCTGGAGGGAACATAAGGGTCATCTACCTTAATAGAATTGGTAACTGAAGCCCAGAAAGGGAAATGGCTTGCCTAAGGTTGTTAAACAAGACTAAATGACTGGAAAGAATTCTACCAGCATTTTCTAGTTCACAAAGAACCTTTTCAATACAGCGTCTTATTTATGATGTGGATTTATGAAGTGGGTGGTATTAGGTGTTCTGAAGAGAAGCAAGCTTGTAGGCACTATCCTTCCCATCCAACAGTTAAGGAAACTGGAGTCCCAGAATGGGGGTCTTTCTAGGATAACATAGTGAGTCTGTCAGAGCTTTAGTGAGAACCCAATTACATCCCAACTGCAAAGCCCACCCTCCATTCCTGTGTGTCCCCTGCAACTCGCCCCTCCCCAGGTGCCAGGCGGGCAGCCTAGCACTGGATCTCTGTGCTGTCCGCCATTCATGGGCAGCCTATGTCCTGCTCTGTGCAGTGGCACTCCCCCTCTGGCATCTGCAGTCCTTGGACACCCCGTCTCTTGCCCCACTCTACAACCCCCTCCCCATTAACCAGTTTCCAACTCCTCGGTCCCTGTGAGTGGCAGCCTCCTCTGGGGTCTGTGTGGTGCAGGGGAATCTCCCTAGGCTCCTGGGGATCCTGGGTTCTGGGTGCAGAGAATCTCCTTTGCACCAGCGTCCTGGGTTCAAGTCTTAACTCTGCCCATGGCTTACTGTGTGACATTAGACAACTCACTTAGCTTCTCTGAACATCAGTTTTCTCCCTTTGGGGGCAGAGGAGGTAATCCCTACCTGTCCCACATAGAAGGAGCTGTGAGGGGTCTTCATAAAACATAACACACTGTCCAACCACAAGGTGGTTTTAATGAATTCCTTTAATATTAGCTTGTACCAGATCAACATGCATTCTCTCCCAGGTGACACACTTACTTAACAAGGCCTTTTGATATCTTAGTTCAAAAGACTCATGGTAGCTTTGGGGTGGTTGGTCAGGAAGGAGGCCTGCTTTCTCCTGGAGACTGAGACCCCCCTGCCCTTCTTGAACAGGCCTGGAAGAGGGGAGCTGTGTCACTGGGGAGATGGCCCCTCACTTTCTCTATGATCTTGGGCAAGTCTCTGTCCCCTCCAGGCCTCAGGGCCCCCGTCATGAAATGGATGTGGTGGAACTAGGTGGATTTTGAGGGTCCTCCTGGCTCAGATGTTATGGGTTTGGGGAGGGCCTGCCAGAGCTGGTGAGAGGTGACTGCTGTTTGCTGCTTGCAGGCTTCCTGGAGAAGAACCGAGACACCCTGCATGGGGACATTATCCAGCTGGTCCACTCCTCCAGGAACAAGTTCATCAAGCAGATCTTCCAGGCCGATGTCGCCATGGTAAGCCGGGTGCGGTTTCTGTTGTTCGGGAAGGGCCCCCACGGGCCAGGCCTGAGTCTAAGCCCTGCCCTTGTCCAACAGCTTCAGCTGAGCCCCCTGGCCACATAATGGGTATGGAGCTTTGCTGTGGCTCCAGGAGGGGCCTGGAGGGGCCTCAAAGGTGTTCCCATCTGGTCCTCTTATTGTACTAACTGGGGATATGGCTGGGGTGCAAGGCCCAGAGAAGGGTCACCTGAGAGGTCACAGAGCAGAACCGGTCAGGGATCGGTTTACTGTGGGGGTTCACCCCCTGGAATCCAGCTGCTAAAGAGAGCATGGGCAGAAAGAGCACATCCAGCTTGAAGGATGTGGGGTGGGTGTGGATACTCAGAGAAGCTGGCACAGAGGGCATGTCTGTGCCAGCCCCAGACCCCATCAGACAGTGGGAGAACAGCCCCCTCCGCCTTTCCTTAGGCCCTAGGGTGAGGGTCTAGTGGATTTTTTCCTGCTGGGTTGCATGCCTTTTTATTTCATATTTTCCTCCTGTCCCATGGCTTCCTGGAGGGTGCATGAAGTCCTCACGCAGAAGACAGTCCTTGCCCCTTCCATGCCTGTCTAGGTGCCTGGCTGTCCCCTGCCCTCAGGACCACCAAGGCATCACAGAGCTTCCAGGACCCCAGACCTCTCCCTGAGGGTCCCCCTCTCTCCATGGTGGATTTTGAGTGGTTTTGTGACCCACCACATTCTCCTTGCCCCTCCTCTCCCCATCTCACCCTGCACCGTGGTTCCTGTTGTAGTTTCTCTGTGGTTATTCATCGGGTACTCTGCGCCACTCAGCAGCTGCTGCGAAGGTAAAAGACCCCAGCCCGGGGCTGAGGATGGCGGGAGAGGCCTCAGCGGCCTGGGTGGGGCTTGGTCCCGAGCTCCCACTGTGCTGAGACTCGGGAAAAGGGCTGGGCTTTTTCTCCTTTTTTTTGGAGTGTGTTTTTGTGTGGAGTGGTTTGTGGAGTGATTTTTGTGTTTGGTTTTTGAGTTGTGTGTGCTGCAGGCATTTCTTTCTTCAAGGAGGAAACTGAGTCCTAGGAGAGGGGCAAGGCTTGCCCAGGGTCCTCTGGGAACCGGGGACAGAGTGGGGACTCGAACGCAGGTCTCCTAAGGCCCCTTGGAGGCGTCAATCCCCGGTCCTTCCACCAGGCCCTGGTGGGCGCCTATGGCCATGCCTTGACCAGATCCTCAGATAACCTTGCAAGGCAGGAGGGACAGGTAGCATTTTCTGCATTTTGCAGATGAGAGACTGAGGCTGAGAGAGGGGATATGACTCATTCCAGGTAACAGCATTCTGACAGGGAGCTGGGACTAGGAGACACCATTCCCCGGACCTCCTTAGGTCTGAAACAGCAGCCCTGTTGCATCCTGAACTCTGGTTCAGGCCGTGGCTCCCACGGTGCTCTAGACCCCAAAGGTGCTGGGTACCCCTTAGCAACAGCATGGTGCTGCCAACCCCTTTGCCTCCTTTTCTCTCCTCAGCCCTCCATTTCCTCTCTGCCAAATACTGACATCCTTCCACTTTGGCCTGGTGCTGAGTCCTTCTTCCTTCCTGCCTGCCTGGCAGAGTTCTGAAACAATCCACACACCCCCAGCAGTAGACAGGGCATGTCAGGAGCAAGGAGCTTGTCTGGATGGTGGCCTCTCCCCTCTGCCCACAGATCAGCCCTGGAAGAACCTCCCGCCCCCACTCACCCTGACAGACCAACACTGTAGGCTGGCCGACTGCTGGGGTGCACACAAGGCCAACCTGAGAGAGGGGAGTCCCAGGCACTCGAAGCACTGGCACCCAGGAGAGTCCCCACCCGAAAGCCCTGTGCTGTAAGGTGGCTGTACTGCTGAGACGGGCGTAGCTCTGGCCTCTCCCACTCTTTCCTCTTCTCCTGTAGCCCTGCTGGCCCCTCGCTGGGCCCATCCATTCCTCCTGGTCTTGGGCATACTCTGGTTAAACCCCATCTTCCCCTCCTACCCGTTCTTCTCTCTCCTCTGTCTTTTCAAAGCTCCTTGAGGCATCTGGGAACAC
|
TCTTTTCCCCTGGGGACAGGCAATTGGGTTCACGTTAAAGCTGGAAGTTAAGAAGAGTGGTCAGAACACAGGCTTATCTCACCTGGAATTCTTAAGGGTTTGTCAAAAGACTGCAGACTGCCCTTGCCAATCCCTCCCCACCCACCCTGGTGTAAAGGGCCAACCACAAATTGGCATTAGTTATGGGCTGTGTCTACCCTGAGCCCTGCCATACAGCCTCAAGGGGTCCCATGCATAGTCAAAGGCCAATTAACCCATAAATATCTATACCTACTATGTACCACAAAAAATTAAAAATTAATTTTTTTTTAAAAAAGGCCAAAGATATCCAAACATGCTATAACCCATCCGTTTCTTACTCCGTTGCTGAACTGGTCCAGAAGTCAGCAGTGTATCAGTGAGCCAGGCTGCAGTGGTAGAATCTGATGGCGGCTCAGATTCCCTTACAATATTGGACTGTGAGATCCAACCTTATTGTTGGAAGAAGGAAGCAGACATTAAGTTTGAAGGACTGTCACGCAAACAAATTGGTCTTTCATTTGGAGTAATAGAGGATTGTATTTCTCAGTTCAGTTCAACCAATATGCTCTTAGCATCTATTATGTACCAGGCTTCATGACGTTGCTGAGGATACAGAAGTGAAAATTGAATAATCTCTATGCTGAGTTGTAAAACTATAGAACGCCAGGTCTGGAGGGAACATAAGGGTCATCTACCTTAATAGAATTGGTAACTGAAGCCCAGAAAGGGAAATGGCTTGCCTAAGGTTGTTAAACAAGACTAAATGACTGGAAAGAATTCTACCAGCATTTTCTAGTTCACAAAGAACCTTTTCAATACAGCGTCTTATTTATGATGTGGATTTATGAAGTGGGTGGTATTAGGTGTTCTGAAGAGAAGCAAGCTTGTAGGCACTATCCTTCCCATCCAACAGTTAAGGAAACTGGAGTCCCAGAATGGGGGTCTTTCTAGGATAACATAGTGAGTCTGTCAGAGCTTTAGTGAGAACCCAATTACATCCCAACTGCAAAGCCCACCCTCCATTCCTGTGTGTCCCCTGCAACTCGCCCCTCCCCAGGTGCCAGGCGGGCAGCCTAGCACTGGATCTCTGTGCTGTCCGCCATTCATGGGCAGCCTATGTCCTGCTCTGTGCAGTGGCACTCCCCCTCTGGCATCTGCAGTCCTTGGACACCCCGTCTCTTGCCCCACTCTACAACCCCCTCCCCATTAACCAGTTTCCAACTCCTCGGTCCCTGTGAGTGGCAGCCTCCTCTGGGGTCTGTGTGGTGCAGGGGAATCTCCCTAGGCTCCTGGGGATCCTGGGTTCTGGGTGCAGAGAATCTCCTTTGCACCAGCGTCCTGGGTTCAAGTCTTAACTCTGCCCATGGCTTACTGTGTGACATTAGACAACTCACTTAGCTTCTCTGAACATCAGTTTTCTCCCTTTGGGGGCAGAGGAGGTAATCCCTACCTGTCCCACATAGAAGGAGCTGTGAGGGGTCTTCATAAAACATAACACACTGTCCAACCACAAGGTGGTTTTAATGAATTCCTTTAATATTAGCTTGTACCAGATCAACATGCATTCTCTCCCAGGTGACACACTTACTTAACAAGGCCTTTTGATATCTTAGTTCAAAAGACTCATGGTAGCTTTGGGGTGGTTGGTCAGGAAGGAGGCCTGCTTTCTCCTGGAGACTGAGACCCCCCTGCCCTTCTTGAACAGGCCTGGAAGAGGGGAGCTGTGTCACTGGGGAGATGGCCCCTCACTTTCTCTATGATCTTGGGCAAGTCTCTGTCCCCTCCAGGCCTCAGGGCCCCCGTCATGAAATGGATGTGGTGGAACTAGGTGGATTTTGAGGGTCCTCCTGGCTCAGATGTTATGGGTTTGGGGAGGGCCTGCCAGAGCTGGTGAGAGGTGACTGCTGTTTGCTGCTTGCAGGCTTCCTGGAGAAGAACCGAGACACCCTGCATGGGGACATTATCCAGCTGGTCCACTCCTCCAGGAACAAGTTCATCAAGCAGATCTTCCAGGCCGATGTCGCCATAGTAAGCCGGGTGCGGTTTCTGTTGTTCGGGAAGGGCCCCCACGGGCCAGGCCTGAGTCTAAGCCCTGCCCTTGTCCAACAGCTTCAGCTGAGCCCCCTGGCCACATAATGGGTATGGAGCTTTGCTGTGGCTCCAGGAGGGGCCTGGAGGGGCCTCAAAGGTGTTCCCATCTGGTCCTCTTATTGTACTAACTGGGGATATGGCTGGGGTGCAAGGCCCAGAGAAGGGTCACCTGAGAGGTCACAGAGCAGAACCGGTCAGGGATCGGTTTACTGTGGGGGTTCACCCCCTGGAATCCAGCTGCTAAAGAGAGCATGGGCAGAAAGAGCACATCCAGCTTGAAGGATGTGGGGTGGGTGTGGATACTCAGAGAAGCTGGCACAGAGGGCATGTCTGTGCCAGCCCCAGACCCCATCAGACAGTGGGAGAACAGCCCCCTCCGCCTTTCCTTAGGCCCTAGGGTGAGGGTCTAGTGGATTTTTTCCTGCTGGGTTGCATGCCTTTTTATTTCATATTTTCCTCCTGTCCCATGGCTTCCTGGAGGGTGCATGAAGTCCTCACGCAGAAGACAGTCCTTGCCCCTTCCATGCCTGTCTAGGTGCCTGGCTGTCCCCTGCCCTCAGGACCACCAAGGCATCACAGAGCTTCCAGGACCCCAGACCTCTCCCTGAGGGTCCCCCTCTCTCCATGGTGGATTTTGAGTGGTTTTGTGACCCACCACATTCTCCTTGCCCCTCCTCTCCCCATCTCACCCTGCACCGTGGTTCCTGTTGTAGTTTCTCTGTGGTTATTCATCGGGTACTCTGCGCCACTCAGCAGCTGCTGCGAAGGTAAAAGACCCCAGCCCGGGGCTGAGGATGGCGGGAGAGGCCTCAGCGGCCTGGGTGGGGCTTGGTCCCGAGCTCCCACTGTGCTGAGACTCGGGAAAAGGGCTGGGCTTTTTCTCCTTTTTTTTGGAGTGTGTTTTTGTGTGGAGTGGTTTGTGGAGTGATTTTTGTGTTTGGTTTTTGAGTTGTGTGTGCTGCAGGCATTTCTTTCTTCAAGGAGGAAACTGAGTCCTAGGAGAGGGGCAAGGCTTGCCCAGGGTCCTCTGGGAACCGGGGACAGAGTGGGGACTCGAACGCAGGTCTCCTAAGGCCCCTTGGAGGCGTCAATCCCCGGTCCTTCCACCAGGCCCTGGTGGGCGCCTATGGCCATGCCTTGACCAGATCCTCAGATAACCTTGCAAGGCAGGAGGGACAGGTAGCATTTTCTGCATTTTGCAGATGAGAGACTGAGGCTGAGAGAGGGGATATGACTCATTCCAGGTAACAGCATTCTGACAGGGAGCTGGGACTAGGAGACACCATTCCCCGGACCTCCTTAGGTCTGAAACAGCAGCCCTGTTGCATCCTGAACTCTGGTTCAGGCCGTGGCTCCCACGGTGCTCTAGACCCCAAAGGTGCTGGGTACCCCTTAGCAACAGCATGGTGCTGCCAACCCCTTTGCCTCCTTTTCTCTCCTCAGCCCTCCATTTCCTCTCTGCCAAATACTGACATCCTTCCACTTTGGCCTGGTGCTGAGTCCTTCTTCCTTCCTGCCTGCCTGGCAGAGTTCTGAAACAATCCACACACCCCCAGCAGTAGACAGGGCATGTCAGGAGCAAGGAGCTTGTCTGGATGGTGGCCTCTCCCCTCTGCCCACAGATCAGCCCTGGAAGAACCTCCCGCCCCCACTCACCCTGACAGACCAACACTGTAGGCTGGCCGACTGCTGGGGTGCACACAAGGCCAACCTGAGAGAGGGGAGTCCCAGGCACTCGAAGCACTGGCACCCAGGAGAGTCCCCACCCGAAAGCCCTGTGCTGTAAGGTGGCTGTACTGCTGAGACGGGCGTAGCTCTGGCCTCTCCCACTCTTTCCTCTTCTCCTGTAGCCCTGCTGGCCCCTCGCTGGGCCCATCCATTCCTCCTGGTCTTGGGCATACTCTGGTTAAACCCCATCTTCCCCTCCTACCCGTTCTTCTCTCTCCTCTGTCTTTTCAAAGCTCCTTGAGGCATCTGGGAACAC
|
Task1_train_16329
|
This variant affects the gene MYO7A (myosin VIIA) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
|
Pathogenic; Usher syndrome type 2
|
CGAGTTGGGGGGTTGCTGCAGGAATTTGAGAGCAATGCTGGTGGCTGGGACCAGGCTGACGGTGGAGGAAGTGGTGAGGGGTCAGGTTCTGGAGATATTTTGAAAGTAGAGCCTGTAGGATTTGCGGATATATTAGATGTGACAGAAGAGGCACTGAGGACAGTTGCTAGATGTTTGGCTGGAGCAACGGGAAGGTGGGCAATTTCTGTGAACCCATGGATGTCACTAGGAACCAGTTCAACAGCACTTCAGTAGATCAAAGTGTTGACTGTTACTTGTGTCATGTAGGCCCTGGCCATGCAGCAATAAAGAGGCAGACGCATCCTGTCCTCATGGGGCTCCCAGCCCAGCAGGGAGGACGGGCAGAAAGCAGTCGTTTTATTGTGATGACCAAGACCAAAGAAGGGTGTGCGTGCGCGTGTGTGTACACGCGGTGGTATGCGTGTGCTCCTAGTGGCGTGTGTATGTGCATGCTGAGGTTGTGTGTGTGTTGTGTGTGTGTGTGTGTGCATGCGTATGCGTGTACTCATGTCAGGGGCCCTAATGCAGGCTGGGTACAGCCCAACTTGGACAGCTCCCCTCCAGTGACCGGGGTCACCCGGTGCTGCTGCTGGATCAAATTGAGGACAACGCCAGGGGCCACAGATCTGACCACCACCCTACCGCATTGCAAATACTCCCCAGCTTCTCTGGGCAAAGTCCTAGAATATATTCCAAATACAATGCAGTTGGAAAGCATTGCAGATTTCAGAATCGCAGGCACTGGCTCTTTCTCGGAAGGCCTCATCACAGTCTGGTGGCATAGTACCTAAATTGAGTATGAGCACAACACCTTTGTCCCCCCAAATACCTCACATATCTACATCTACACCCCTGGTTTTTGATGCTACAGGATATCAGATGAAATGATGACTCTAAAAATATAAAAATCTTGCAATATTAATCAAATGAAGTCAAGTAAAATAAGAAATTCTCAACCAAATGAAAATTGCCAGGAAAACACTAATCAAGATGCTTTGGAACAAAACCTAAGCTCTGTGTCCAGTTCCCATCAGTCCTGCCATTTGGCTTCCTGTTTGTTTGCGGCTCAGGGCTTCCCCCACCTCATTTCACAGTATTCTCAGAGGGGACCCCAGTAGGGCAGGGAGGCGCAGGGGGCTCGCTGGCTGCCAGGATCGCCCAGGTGTGGCTGGTGGAGCACAGAACCCCTGGCTGCGTCGGAGCCACAGTGCGGGGGGTTAGGAGGAGGCTGCTTGTGTGCCTTCTTAGGAGGATTAGCCAGGCCTGCCCCGCCCCCAGCCTGCTGCTGCCGGCTAAGCCTGGGAGGGGAGAGGTCACCGGCAGCTCCCGCCCCTCCTCCTCGCGCTTGCCCACAGGTTTCCAGAAGGCGGCACCACCTTTCTAGGTTGCTGTTTACTGAAATATGCCCTGACCTCTGACCCTTGTCACAGCCTGGTCAGATGGATAGATGGCATCACCTCCACTTAGGAAACTGAGGCTCTGCAACATTTAGTGACCTGCCCAAGGGCACACAGCTAGGAAGTGGTGGGCCAGGGCTTGAATCTAGGTTCGTCTAACCCCTGTCTCTAGAGATGACCTCAGTGTCCTGAGGTGACCAAGTCCGATTACTCCTTTATACAGGGAAGGGAGGGATGAGACTCAGGGGCTGCCCCTTGCTCAGAGTTATCCAGCGCACCAGGTGCAGGGGCAGGCTTGAGACTCCCAGTGCGGAGATCTTCCTGTAGGGTTCACTTCCCCCTCGCCCAGAGGTGGTAACTTTGGAAGTCCTGGGAGGCTTCCTGGAGGAGGTATCTGGAGTCCAGGCTCCAGCTCAGAAGGTGGGGAGAGGCAGTTTGCAGGAAAACTTCAAATACCGCCCTGTCCCTCAAACCCTGACCCCGCTGACCTCCCCTCCCGCTTCCTACTGGGCGGCTCCTGGGACACTGGATGGGGCAGGCACAGCCCCTCCCATCGCTGCCGTCCGTCCCCCCAGGGCGCCGAGACCAGGAAGCGCTCGCCCACACTTAGCAGCCAGTTCAAGCGGTCACTGGAGCTGCTGATGCGCACGCTGGGTGCCTGCCAGCCCTTCTTTGTGCGATGCATCAAGCCCAATGAGTTCAAGAAGCCCATGGTGAGTGGCCCTGGCCTGGGGTTGGCGGGTGGCGGCTAGGGTGACGTGGAGGAGCTAGGTCAAGAATAAGGTAGGGTGGGAGTGAAGGATGTGAGACTTTGTCCCTTTGGGGAATGGGGGGCACCCCGGGAGCTTACAAAACAAGGCCCCCTATTTATTGGAGGCAGCAGGTGCCTTGGAAAGAGCCTAGACTCTGCGGGGGGTTGCAGCAGGTTCAGATCCTGCCTCTACCATGTACAAGTGGGCGACTGCAGACAAAGCAGTTTCTTCTCTTATGCCTCAGTTTCCTCATAGATGGAAACGGGACTGACCGTATCTACCTCCTAAGGCTATTCCATGCAGTAATGCTTGCAGATGCCCACACCCAGCAAGTGCCCAGTGATTGGCAGCTGTGGTTCTTGCTGGGGCTGCTTCTTTGAAAGTCCCCTTCTCCTTTGGCCCAGCTCAACCACCACCTCCTCCTGGAAGCCTCCCCCATCTCTTCAGCTGGTTGGGATATCCTCATTCTTGACTTTTCTGAATAACATTTGTTGGGCCCTTTCTGTGTGCCCAGCATAGGCTGGATGGTCAGTCCACAGCCTCCTTCAACCTTCTCAAACAGCCCGTGAGAAAGGGACTGTGCTGGTCCCAGGTTAGAGATGCGGGACTGGGGGCTCAGGGAGGTTAAGGGGCTCAGGCTGGGGCCACCTCGCTGCGAGCCCTCTCCTTTCGCAGCACAGGCTCTGGGAGGGTTGTTTACCCAGAGGCCTGCAGGGAGGCACAGGGGGAAGCTGGGGCCTCGGGATCTGGGGAGGGAAGGAAGGCCGGGGAAAGTGGCCCGGAGAGAGAGGAAACAGTCTCCGGAAGCTGACAGGCTGCAAGACCGTCCCCTCCTGCTGCCTCCTGCCTGGAAAACATGTCCCAGAGTGGATGAGGCCTGTCCCCTTTAGGACTCAGGTCTGCAGGGGCCTGAGGGTCGCAGAGGGCTCCAGTGAGCTCTCCCTCTAATGCAGGGGGTGCAGGGGACTGACACCAGGGCAGTCGGGCACAGTCTTCCCTGGCTCTGAAGTGGGACCCTTCCCTCGGCCCAGTCCTCAGCATCTGTGGACTGGGCCTTGGCAATAGCCTCCTCAAGGGTCTCCTGCCTCCCTTGCCTCCTGTCCTGCCTCCCCTGGCCCCCAGTGACATTGTTCTCAAATGCAGACCTGGCCCAGTCTCTCCCTGCTCTAAAACTTCCCTGGCTTCCAGCATCCATGGATGAGGCCCTCACAGAGCCCCACAGCCTCACAGCCCAGCACCTGCCTTCTACTCTTTCTCCCCAGCCCCTCCACCAACCAAACCCCAGGGCCCTTTGAAAAATGTGCCTCTTCCTTAAGGCAGCTAGAAAGTTGTCTGAATAACCGCAGATCTACAATACCTGCAACGTGAAAGGTCCTCCCTGGGGCTGTGCAGAGCACCCCTCACCTGCACAGCCATAACTTGGCCTGGACGAGCCTCTCTAGCTCCCTCAAGATTCCCAGCAAAGTCCTGCGCTTTCAGGCTTCCAAACCTTTGCACAGGCTCACCCCCTCCAGCCTTGGAATACTCCCCCTCCTGTCAGGGTTAGGGTGATAAAGACGCCTCCTCCATGAAGCTCCCCACTTGGGTGTCCCAAGGGGAATTAATCTGTCTTCTCTGTGCTCCCAAAGCACACAGCTCCACCACGACAGGCCTCACTTTATGCTCTTTTGTGGATTTGAGCTGCAGATCCCGGTGCCTGTCCCAGCTTTGCTCCTCCCATGCCGTGTGGACTTGGCCTTTCTGAGCCTTTGTCTGGGTTGGTCAAGTGCACAGCAGGGCTGCCTCCCAGCAGGAGCCTTGGCCCTGATGCCCTTGGCTGTGTGCCTGGCAGCTGTTCGACCGGCACCTGTGCGTGCGCCAGCTGCGGTACTCAGGAATGATGGAGACCATCCGAATCCGCCGAGCTGGCTACCCCATCCGCTACAG
|
CGAGTTGGGGGGTTGCTGCAGGAATTTGAGAGCAATGCTGGTGGCTGGGACCAGGCTGACGGTGGAGGAAGTGGTGAGGGGTCAGGTTCTGGAGATATTTTGAAAGTAGAGCCTGTAGGATTTGCGGATATATTAGATGTGACAGAAGAGGCACTGAGGACAGTTGCTAGATGTTTGGCTGGAGCAACGGGAAGGTGGGCAATTTCTGTGAACCCATGGATGTCACTAGGAACCAGTTCAACAGCACTTCAGTAGATCAAAGTGTTGACTGTTACTTGTGTCATGTAGGCCCTGGCCATGCAGCAATAAAGAGGCAGACGCATCCTGTCCTCATGGGGCTCCCAGCCCAGCAGGGAGGACGGGCAGAAAGCAGTCGTTTTATTGTGATGACCAAGACCAAAGAAGGGTGTGCGTGCGCGTGTGTGTACACGCGGTGGTATGCGTGTGCTCCTAGTGGCGTGTGTATGTGCATGCTGAGGTTGTGTGTGTGTTGTGTGTGTGTGTGTGTGCATGCGTATGCGTGTACTCATGTCAGGGGCCCTAATGCAGGCTGGGTACAGCCCAACTTGGACAGCTCCCCTCCAGTGACCGGGGTCACCCGGTGCTGCTGCTGGATCAAATTGAGGACAACGCCAGGGGCCACAGATCTGACCACCACCCTACCGCATTGCAAATACTCCCCAGCTTCTCTGGGCAAAGTCCTAGAATATATTCCAAATACAATGCAGTTGGAAAGCATTGCAGATTTCAGAATCGCAGGCACTGGCTCTTTCTCGGAAGGCCTCATCACAGTCTGGTGGCATAGTACCTAAATTGAGTATGAGCACAACACCTTTGTCCCCCCAAATACCTCACATATCTACATCTACACCCCTGGTTTTTGATGCTACAGGATATCAGATGAAATGATGACTCTAAAAATATAAAAATCTTGCAATATTAATCAAATGAAGTCAAGTAAAATAAGAAATTCTCAACCAAATGAAAATTGCCAGGAAAACACTAATCAAGATGCTTTGGAACAAAACCTAAGCTCTGTGTCCAGTTCCCATCAGTCCTGCCATTTGGCTTCCTGTTTGTTTGCGGCTCAGGGCTTCCCCCACCTCATTTCACAGTATTCTCAGAGGGGACCCCAGTAGGGCAGGGAGGCGCAGGGGGCTCGCTGGCTGCCAGGATCGCCCAGGTGTGGCTGGTGGAGCACAGAACCCCTGGCTGCGTCGGAGCCACAGTGCGGGGGGTTAGGAGGAGGCTGCTTGTGTGCCTTCTTAGGAGGATTAGCCAGGCCTGCCCCGCCCCCAGCCTGCTGCTGCCGGCTAAGCCTGGGAGGGGAGAGGTCACCGGCAGCTCCCGCCCCTCCTCCTCGCGCTTGCCCACAGGTTTCCAGAAGGCGGCACCACCTTTCTAGGTTGCTGTTTACTGAAATATGCCCTGACCTCTGACCCTTGTCACAGCCTGGTCAGATGGATAGATGGCATCACCTCCACTTAGGAAACTGAGGCTCTGCAACATTTAGTGACCTGCCCAAGGGCACACAGCTAGGAAGTGGTGGGCCAGGGCTTGAATCTAGGTTCGTCTAACCCCTGTCTCTAGAGATGACCTCAGTGTCCTGAGGTGACCAAGTCCGATTACTCCTTTATACAGGGAAGGGAGGGATGAGACTCAGGGGCTGCCCCTTGCTCAGAGTTATCCAGCGCACCAGGTGCAGGGGCAGGCTTGAGACTCCCAGTGCGGAGATCTTCCTGTAGGGTTCACTTCCCCCTCGCCCAGAGGTGGTAACTTTGGAAGTCCTGGGAGGCTTCCTGGAGGAGGTATCTGGAGTCCAGGCTCCAGCTCAGAAGGTGGGGAGAGGCAGTTTGCAGGAAAACTTCAAATACCGCCCTGTCCCTCAAACCCTGACCCCGCTGACCTCCCCTCCCGCTTCCTACTGGGCGGCTCCTGGGACACTGGATGGGGCAGGCACAGCCCCTCCCATCGCTGCCGTCCGTCCCCCCAGGGCGCCGAGACCAGGAAGCGCTCGCCCACACTTAGCAGCCAGTTCAAGCGGTCACGGGAGCTGCTGATGCGCACGCTGGGTGCCTGCCAGCCCTTCTTTGTGCGATGCATCAAGCCCAATGAGTTCAAGAAGCCCATGGTGAGTGGCCCTGGCCTGGGGTTGGCGGGTGGCGGCTAGGGTGACGTGGAGGAGCTAGGTCAAGAATAAGGTAGGGTGGGAGTGAAGGATGTGAGACTTTGTCCCTTTGGGGAATGGGGGGCACCCCGGGAGCTTACAAAACAAGGCCCCCTATTTATTGGAGGCAGCAGGTGCCTTGGAAAGAGCCTAGACTCTGCGGGGGGTTGCAGCAGGTTCAGATCCTGCCTCTACCATGTACAAGTGGGCGACTGCAGACAAAGCAGTTTCTTCTCTTATGCCTCAGTTTCCTCATAGATGGAAACGGGACTGACCGTATCTACCTCCTAAGGCTATTCCATGCAGTAATGCTTGCAGATGCCCACACCCAGCAAGTGCCCAGTGATTGGCAGCTGTGGTTCTTGCTGGGGCTGCTTCTTTGAAAGTCCCCTTCTCCTTTGGCCCAGCTCAACCACCACCTCCTCCTGGAAGCCTCCCCCATCTCTTCAGCTGGTTGGGATATCCTCATTCTTGACTTTTCTGAATAACATTTGTTGGGCCCTTTCTGTGTGCCCAGCATAGGCTGGATGGTCAGTCCACAGCCTCCTTCAACCTTCTCAAACAGCCCGTGAGAAAGGGACTGTGCTGGTCCCAGGTTAGAGATGCGGGACTGGGGGCTCAGGGAGGTTAAGGGGCTCAGGCTGGGGCCACCTCGCTGCGAGCCCTCTCCTTTCGCAGCACAGGCTCTGGGAGGGTTGTTTACCCAGAGGCCTGCAGGGAGGCACAGGGGGAAGCTGGGGCCTCGGGATCTGGGGAGGGAAGGAAGGCCGGGGAAAGTGGCCCGGAGAGAGAGGAAACAGTCTCCGGAAGCTGACAGGCTGCAAGACCGTCCCCTCCTGCTGCCTCCTGCCTGGAAAACATGTCCCAGAGTGGATGAGGCCTGTCCCCTTTAGGACTCAGGTCTGCAGGGGCCTGAGGGTCGCAGAGGGCTCCAGTGAGCTCTCCCTCTAATGCAGGGGGTGCAGGGGACTGACACCAGGGCAGTCGGGCACAGTCTTCCCTGGCTCTGAAGTGGGACCCTTCCCTCGGCCCAGTCCTCAGCATCTGTGGACTGGGCCTTGGCAATAGCCTCCTCAAGGGTCTCCTGCCTCCCTTGCCTCCTGTCCTGCCTCCCCTGGCCCCCAGTGACATTGTTCTCAAATGCAGACCTGGCCCAGTCTCTCCCTGCTCTAAAACTTCCCTGGCTTCCAGCATCCATGGATGAGGCCCTCACAGAGCCCCACAGCCTCACAGCCCAGCACCTGCCTTCTACTCTTTCTCCCCAGCCCCTCCACCAACCAAACCCCAGGGCCCTTTGAAAAATGTGCCTCTTCCTTAAGGCAGCTAGAAAGTTGTCTGAATAACCGCAGATCTACAATACCTGCAACGTGAAAGGTCCTCCCTGGGGCTGTGCAGAGCACCCCTCACCTGCACAGCCATAACTTGGCCTGGACGAGCCTCTCTAGCTCCCTCAAGATTCCCAGCAAAGTCCTGCGCTTTCAGGCTTCCAAACCTTTGCACAGGCTCACCCCCTCCAGCCTTGGAATACTCCCCCTCCTGTCAGGGTTAGGGTGATAAAGACGCCTCCTCCATGAAGCTCCCCACTTGGGTGTCCCAAGGGGAATTAATCTGTCTTCTCTGTGCTCCCAAAGCACACAGCTCCACCACGACAGGCCTCACTTTATGCTCTTTTGTGGATTTGAGCTGCAGATCCCGGTGCCTGTCCCAGCTTTGCTCCTCCCATGCCGTGTGGACTTGGCCTTTCTGAGCCTTTGTCTGGGTTGGTCAAGTGCACAGCAGGGCTGCCTCCCAGCAGGAGCCTTGGCCCTGATGCCCTTGGCTGTGTGCCTGGCAGCTGTTCGACCGGCACCTGTGCGTGCGCCAGCTGCGGTACTCAGGAATGATGGAGACCATCCGAATCCGCCGAGCTGGCTACCCCATCCGCTACAG
|
Task1_train_16330
|
This variant lies on Chromosome 11 and affects the gene MYO7A (myosin VIIA). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
|
Pathogenic; Usher syndrome type 2
|
TCGCCCACACTTAGCAGCCAGTTCAAGCGGTCACTGGAGCTGCTGATGCGCACGCTGGGTGCCTGCCAGCCCTTCTTTGTGCGATGCATCAAGCCCAATGAGTTCAAGAAGCCCATGGTGAGTGGCCCTGGCCTGGGGTTGGCGGGTGGCGGCTAGGGTGACGTGGAGGAGCTAGGTCAAGAATAAGGTAGGGTGGGAGTGAAGGATGTGAGACTTTGTCCCTTTGGGGAATGGGGGGCACCCCGGGAGCTTACAAAACAAGGCCCCCTATTTATTGGAGGCAGCAGGTGCCTTGGAAAGAGCCTAGACTCTGCGGGGGGTTGCAGCAGGTTCAGATCCTGCCTCTACCATGTACAAGTGGGCGACTGCAGACAAAGCAGTTTCTTCTCTTATGCCTCAGTTTCCTCATAGATGGAAACGGGACTGACCGTATCTACCTCCTAAGGCTATTCCATGCAGTAATGCTTGCAGATGCCCACACCCAGCAAGTGCCCAGTGATTGGCAGCTGTGGTTCTTGCTGGGGCTGCTTCTTTGAAAGTCCCCTTCTCCTTTGGCCCAGCTCAACCACCACCTCCTCCTGGAAGCCTCCCCCATCTCTTCAGCTGGTTGGGATATCCTCATTCTTGACTTTTCTGAATAACATTTGTTGGGCCCTTTCTGTGTGCCCAGCATAGGCTGGATGGTCAGTCCACAGCCTCCTTCAACCTTCTCAAACAGCCCGTGAGAAAGGGACTGTGCTGGTCCCAGGTTAGAGATGCGGGACTGGGGGCTCAGGGAGGTTAAGGGGCTCAGGCTGGGGCCACCTCGCTGCGAGCCCTCTCCTTTCGCAGCACAGGCTCTGGGAGGGTTGTTTACCCAGAGGCCTGCAGGGAGGCACAGGGGGAAGCTGGGGCCTCGGGATCTGGGGAGGGAAGGAAGGCCGGGGAAAGTGGCCCGGAGAGAGAGGAAACAGTCTCCGGAAGCTGACAGGCTGCAAGACCGTCCCCTCCTGCTGCCTCCTGCCTGGAAAACATGTCCCAGAGTGGATGAGGCCTGTCCCCTTTAGGACTCAGGTCTGCAGGGGCCTGAGGGTCGCAGAGGGCTCCAGTGAGCTCTCCCTCTAATGCAGGGGGTGCAGGGGACTGACACCAGGGCAGTCGGGCACAGTCTTCCCTGGCTCTGAAGTGGGACCCTTCCCTCGGCCCAGTCCTCAGCATCTGTGGACTGGGCCTTGGCAATAGCCTCCTCAAGGGTCTCCTGCCTCCCTTGCCTCCTGTCCTGCCTCCCCTGGCCCCCAGTGACATTGTTCTCAAATGCAGACCTGGCCCAGTCTCTCCCTGCTCTAAAACTTCCCTGGCTTCCAGCATCCATGGATGAGGCCCTCACAGAGCCCCACAGCCTCACAGCCCAGCACCTGCCTTCTACTCTTTCTCCCCAGCCCCTCCACCAACCAAACCCCAGGGCCCTTTGAAAAATGTGCCTCTTCCTTAAGGCAGCTAGAAAGTTGTCTGAATAACCGCAGATCTACAATACCTGCAACGTGAAAGGTCCTCCCTGGGGCTGTGCAGAGCACCCCTCACCTGCACAGCCATAACTTGGCCTGGACGAGCCTCTCTAGCTCCCTCAAGATTCCCAGCAAAGTCCTGCGCTTTCAGGCTTCCAAACCTTTGCACAGGCTCACCCCCTCCAGCCTTGGAATACTCCCCCTCCTGTCAGGGTTAGGGTGATAAAGACGCCTCCTCCATGAAGCTCCCCACTTGGGTGTCCCAAGGGGAATTAATCTGTCTTCTCTGTGCTCCCAAAGCACACAGCTCCACCACGACAGGCCTCACTTTATGCTCTTTTGTGGATTTGAGCTGCAGATCCCGGTGCCTGTCCCAGCTTTGCTCCTCCCATGCCGTGTGGACTTGGCCTTTCTGAGCCTTTGTCTGGGTTGGTCAAGTGCACAGCAGGGCTGCCTCCCAGCAGGAGCCTTGGCCCTGATGCCCTTGGCTGTGTGCCTGGCAGCTGTTCGACCGGCACCTGTGCGTGCGCCAGCTGCGGTACTCAGGAATGATGGAGACCATCCGAATCCGCCGAGCTGGCTACCCCATCCGCTACAGCTTCGTAGAGTTTGTGGAGCGGTACCGTGTGCTGCTGCCAGGTGTGAAGCCGGCCTACAAGCAGGTACAGGGCTGAGTGCACAGAGGGCAGGAGGGGAGGGTCCCAGCTTTGGCTGGGCAAGGGTCCCAATTTTCTTATCAGGACCATGGGCGGGGCTTGACATCTGCTTGACCTCTCAGGTGCAGCACGGAAAATTGGGGTTCAGGTATTGGAATGCATCAGTGGGCTTCAGTTGCCATGTTCAGCTGGTGAGGACTTCACACATGGTGGTGTAAGGAACAAGACCAGGGCTGCCACGCGGGCCCTGGATGTCAGTTGTGAGAAAGGGTTTTGCAATCATACCATCCAGCTGAGCTAAGGAGAAAACTGGGGCTCAGAGAAGGCAGGACCCAGCTGAGGTCACACTTCGAGTCAGGGGCAGAGCTCGGGAAGAGCCCTGCCTCTCAGCCTCGGGGACACTCCGGAGGCCTTCCCACTGGAGAGGCTGTCCATTCCCTTGTGTTCCCCATCCTCACTCCAGGGCGACCTCCGCGGGACTTGCCAGCGCATGGCTGAGGCTGTGCTGGGCACCCACGATGACTGGCAGATAGGCAAAACCAAGATCTTTCTGAAGGTGAGCACAGATGCCTTCCCTGGGCTGCCCTGGGGGGGCTGTAAATTCCCATGATGTGGGCTGGGGTGCTCGGGAGAGGGAGGCAGTGCTGGGGCTTTGAGATCCTTTCTGCCGGGCTGTGGTGTGGCTGGAGGAGCAGGTGGGATCTGGCCTCTCTGGTGGGGAAGGGTAATTTGGTGTTTGAGATCATCTACAACCTGGGAGTGGGGTCAGAGCACTGACCACAGGTTACAAAGCACATGCCAGGGGCGGGCTGGCTGTTAGGCCCACAGCAGGGAGGCAGGGGTGCTGCTTGCCTTGGGGCCCTTTCTGAGCCTCATTTTCCCATCTGTAAATTGGGGTGTGCCTGTGTGGGGTCTCTTGAGTGTATCTTTAGGTTCCTTCCTGTGGTTTCCTGCCTGGCAGGGCCCATCCCGTGCTGGGGTCCGCAGCATGCCACCTGTCCGTCACTCTGTAGGGAGCTCAGCTCCCATTGCTGCCTGGGCAGCTGGGGAAGGAAGCAGGAAGCAAGGCCTGCGGGAGTCGCGGAGTCACAGCCTTGGAGACATGGCTGGGAGCTGGCAGTGGCAGGGCAGCCGCAGCAGGGACAGTGCGAGCTCCCAGTGCTGGGCTTCCCCATTTGCATTTCCGCTGTGCTAGATTTCTGGCTGTCCCGGATGACAGGGCTCCTTCCTCTGGTGTGGGGGGTGGGGCCTGGGCACTCCAAGGACAGCTGCAGGAGGGACAAGAACCAGCTCCGAACTGGAGGGAGCCTGCGGCCTCTTCTAATTCCTCTCCAGCCAAGGGGCTTCAGGCTAGGCCCTTTCTCTCCTTGCACCTGCATTTCCTCATCAGCAAGATGTGATGAATGTTCCCTGCCTGTGCCTCCCACAGCTGTCAGCCAGAAAGCACATTCCATGTGCCAGGCCCTGGGTGGGTGCTTTTCATCCATGAGCTCATTTAATCCTTGAAACAGTCCTGTGGAGAAGGAAATATTATACCCATTTCACAGGCTCAGAGAGAAGTGAGTTGCCTGAAACCAGGCAGCTAGGAAGCAGGGAGCAGGACTTCTAGTCTGGGAAGGTCTGATGCCCAGCCCCTGTGTGGGCAAAGTGGGGAAGGCAGGAATCATGATGGCATCTAGTACCAGGGAACTCGGAGGAGCTCCATCAGCCCCTGACTTACACTGCTAGGCTCTTCCGATATGGCCTTGGTTTTGAGAGGCCAAACATGCTCATTCATCCATTCATTCATTCAGAATGCCTCGGCTGAGCATCTCCTCTGTCAGGGCCCTGTGTGTCTGTGATTATCTGATGGATTTGGCTCCCTCATGAGACTCTACCCTCCCCAAGGGCAGGGGCCATGTCTCCCTGGTTCATTGTGGCAGCCCCTCCCCTCCCCAGCATCTAGCACAGTGCCAG
|
TCGCCCACACTTAGCAGCCAGTTCAAGCGGTCACTGGAGCTGCTGATGCGCACGCTGGGTGCCTGCCAGCCCTTCTTTGTGCGATGCATCAAGCCCAATGAGTTCAAGAAGCCCATGGTGAGTGGCCCTGGCCTGGGGTTGGCGGGTGGCGGCTAGGGTGACGTGGAGGAGCTAGGTCAAGAATAAGGTAGGGTGGGAGTGAAGGATGTGAGACTTTGTCCCTTTGGGGAATGGGGGGCACCCCGGGAGCTTACAAAACAAGGCCCCCTATTTATTGGAGGCAGCAGGTGCCTTGGAAAGAGCCTAGACTCTGCGGGGGGTTGCAGCAGGTTCAGATCCTGCCTCTACCATGTACAAGTGGGCGACTGCAGACAAAGCAGTTTCTTCTCTTATGCCTCAGTTTCCTCATAGATGGAAACGGGACTGACCGTATCTACCTCCTAAGGCTATTCCATGCAGTAATGCTTGCAGATGCCCACACCCAGCAAGTGCCCAGTGATTGGCAGCTGTGGTTCTTGCTGGGGCTGCTTCTTTGAAAGTCCCCTTCTCCTTTGGCCCAGCTCAACCACCACCTCCTCCTGGAAGCCTCCCCCATCTCTTCAGCTGGTTGGGATATCCTCATTCTTGACTTTTCTGAATAACATTTGTTGGGCCCTTTCTGTGTGCCCAGCATAGGCTGGATGGTCAGTCCACAGCCTCCTTCAACCTTCTCAAACAGCCCGTGAGAAAGGGACTGTGCTGGTCCCAGGTTAGAGATGCGGGACTGGGGGCTCAGGGAGGTTAAGGGGCTCAGGCTGGGGCCACCTCGCTGCGAGCCCTCTCCTTTCGCAGCACAGGCTCTGGGAGGGTTGTTTACCCAGAGGCCTGCAGGGAGGCACAGGGGGAAGCTGGGGCCTCGGGATCTGGGGAGGGAAGGAAGGCCGGGGAAAGTGGCCCGGAGAGAGAGGAAACAGTCTCCGGAAGCTGACAGGCTGCAAGACCGTCCCCTCCTGCTGCCTCCTGCCTGGAAAACATGTCCCAGAGTGGATGAGGCCTGTCCCCTTTAGGACTCAGGTCTGCAGGGGCCTGAGGGTCGCAGAGGGCTCCAGTGAGCTCTCCCTCTAATGCAGGGGGTGCAGGGGACTGACACCAGGGCAGTCGGGCACAGTCTTCCCTGGCTCTGAAGTGGGACCCTTCCCTCGGCCCAGTCCTCAGCATCTGTGGACTGGGCCTTGGCAATAGCCTCCTCAAGGGTCTCCTGCCTCCCTTGCCTCCTGTCCTGCCTCCCCTGGCCCCCAGTGACATTGTTCTCAAATGCAGACCTGGCCCAGTCTCTCCCTGCTCTAAAACTTCCCTGGCTTCCAGCATCCATGGATGAGGCCCTCACAGAGCCCCACAGCCTCACAGCCCAGCACCTGCCTTCTACTCTTTCTCCCCAGCCCCTCCACCAACCAAACCCCAGGGCCCTTTGAAAAATGTGCCTCTTCCTTAAGGCAGCTAGAAAGTTGTCTGAATAACCGCAGATCTACAATACCTGCAACGTGAAAGGTCCTCCCTGGGGCTGTGCAGAGCACCCCTCACCTGCACAGCCATAACTTGGCCTGGACGAGCCTCTCTAGCTCCCTCAAGATTCCCAGCAAAGTCCTGCGCTTTCAGGCTTCCAAACCTTTGCACAGGCTCACCCCCTCCAGCCTTGGAATACTCCCCCTCCTGTCAGGGTTAGGGTGATAAAGACGCCTCCTCCATGAAGCTCCCCACTTGGGTGTCCCAAGGGGAATTAATCTGTCTTCTCTGTGCTCCCAAAGCACACAGCTCCACCACGACAGGCCTCACTTTATGCTCTTTTGTGGATTTGAGCTGCAGATCCCGGTGCCTGTCCCAGCTTTGCTCCTCCCATGCCGTGTGGACTTGGCCTTTCTGAGCCTTTGTCTGGGTTGGTCAAGTGCACAGCAGGGCTGCCTCCCAGCAGGAGCCTTGGCCCTGATGCCCTTGGCTGTGTGCCTGGCAGCTGTTCGACCGGCACCTGTGCGTGCGCCAGCTGCGGTACTCAGGAATGATGGAGACCATCCCAATCCGCCGAGCTGGCTACCCCATCCGCTACAGCTTCGTAGAGTTTGTGGAGCGGTACCGTGTGCTGCTGCCAGGTGTGAAGCCGGCCTACAAGCAGGTACAGGGCTGAGTGCACAGAGGGCAGGAGGGGAGGGTCCCAGCTTTGGCTGGGCAAGGGTCCCAATTTTCTTATCAGGACCATGGGCGGGGCTTGACATCTGCTTGACCTCTCAGGTGCAGCACGGAAAATTGGGGTTCAGGTATTGGAATGCATCAGTGGGCTTCAGTTGCCATGTTCAGCTGGTGAGGACTTCACACATGGTGGTGTAAGGAACAAGACCAGGGCTGCCACGCGGGCCCTGGATGTCAGTTGTGAGAAAGGGTTTTGCAATCATACCATCCAGCTGAGCTAAGGAGAAAACTGGGGCTCAGAGAAGGCAGGACCCAGCTGAGGTCACACTTCGAGTCAGGGGCAGAGCTCGGGAAGAGCCCTGCCTCTCAGCCTCGGGGACACTCCGGAGGCCTTCCCACTGGAGAGGCTGTCCATTCCCTTGTGTTCCCCATCCTCACTCCAGGGCGACCTCCGCGGGACTTGCCAGCGCATGGCTGAGGCTGTGCTGGGCACCCACGATGACTGGCAGATAGGCAAAACCAAGATCTTTCTGAAGGTGAGCACAGATGCCTTCCCTGGGCTGCCCTGGGGGGGCTGTAAATTCCCATGATGTGGGCTGGGGTGCTCGGGAGAGGGAGGCAGTGCTGGGGCTTTGAGATCCTTTCTGCCGGGCTGTGGTGTGGCTGGAGGAGCAGGTGGGATCTGGCCTCTCTGGTGGGGAAGGGTAATTTGGTGTTTGAGATCATCTACAACCTGGGAGTGGGGTCAGAGCACTGACCACAGGTTACAAAGCACATGCCAGGGGCGGGCTGGCTGTTAGGCCCACAGCAGGGAGGCAGGGGTGCTGCTTGCCTTGGGGCCCTTTCTGAGCCTCATTTTCCCATCTGTAAATTGGGGTGTGCCTGTGTGGGGTCTCTTGAGTGTATCTTTAGGTTCCTTCCTGTGGTTTCCTGCCTGGCAGGGCCCATCCCGTGCTGGGGTCCGCAGCATGCCACCTGTCCGTCACTCTGTAGGGAGCTCAGCTCCCATTGCTGCCTGGGCAGCTGGGGAAGGAAGCAGGAAGCAAGGCCTGCGGGAGTCGCGGAGTCACAGCCTTGGAGACATGGCTGGGAGCTGGCAGTGGCAGGGCAGCCGCAGCAGGGACAGTGCGAGCTCCCAGTGCTGGGCTTCCCCATTTGCATTTCCGCTGTGCTAGATTTCTGGCTGTCCCGGATGACAGGGCTCCTTCCTCTGGTGTGGGGGGTGGGGCCTGGGCACTCCAAGGACAGCTGCAGGAGGGACAAGAACCAGCTCCGAACTGGAGGGAGCCTGCGGCCTCTTCTAATTCCTCTCCAGCCAAGGGGCTTCAGGCTAGGCCCTTTCTCTCCTTGCACCTGCATTTCCTCATCAGCAAGATGTGATGAATGTTCCCTGCCTGTGCCTCCCACAGCTGTCAGCCAGAAAGCACATTCCATGTGCCAGGCCCTGGGTGGGTGCTTTTCATCCATGAGCTCATTTAATCCTTGAAACAGTCCTGTGGAGAAGGAAATATTATACCCATTTCACAGGCTCAGAGAGAAGTGAGTTGCCTGAAACCAGGCAGCTAGGAAGCAGGGAGCAGGACTTCTAGTCTGGGAAGGTCTGATGCCCAGCCCCTGTGTGGGCAAAGTGGGGAAGGCAGGAATCATGATGGCATCTAGTACCAGGGAACTCGGAGGAGCTCCATCAGCCCCTGACTTACACTGCTAGGCTCTTCCGATATGGCCTTGGTTTTGAGAGGCCAAACATGCTCATTCATCCATTCATTCATTCAGAATGCCTCGGCTGAGCATCTCCTCTGTCAGGGCCCTGTGTGTCTGTGATTATCTGATGGATTTGGCTCCCTCATGAGACTCTACCCTCCCCAAGGGCAGGGGCCATGTCTCCCTGGTTCATTGTGGCAGCCCCTCCCCTCCCCAGCATCTAGCACAGTGCCAG
|
Task1_train_16331
|
A variant was discovered in gene MYO7A (myosin VIIA), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful.
|
Pathogenic; not provided
|
ACACTTAGCAGCCAGTTCAAGCGGTCACTGGAGCTGCTGATGCGCACGCTGGGTGCCTGCCAGCCCTTCTTTGTGCGATGCATCAAGCCCAATGAGTTCAAGAAGCCCATGGTGAGTGGCCCTGGCCTGGGGTTGGCGGGTGGCGGCTAGGGTGACGTGGAGGAGCTAGGTCAAGAATAAGGTAGGGTGGGAGTGAAGGATGTGAGACTTTGTCCCTTTGGGGAATGGGGGGCACCCCGGGAGCTTACAAAACAAGGCCCCCTATTTATTGGAGGCAGCAGGTGCCTTGGAAAGAGCCTAGACTCTGCGGGGGGTTGCAGCAGGTTCAGATCCTGCCTCTACCATGTACAAGTGGGCGACTGCAGACAAAGCAGTTTCTTCTCTTATGCCTCAGTTTCCTCATAGATGGAAACGGGACTGACCGTATCTACCTCCTAAGGCTATTCCATGCAGTAATGCTTGCAGATGCCCACACCCAGCAAGTGCCCAGTGATTGGCAGCTGTGGTTCTTGCTGGGGCTGCTTCTTTGAAAGTCCCCTTCTCCTTTGGCCCAGCTCAACCACCACCTCCTCCTGGAAGCCTCCCCCATCTCTTCAGCTGGTTGGGATATCCTCATTCTTGACTTTTCTGAATAACATTTGTTGGGCCCTTTCTGTGTGCCCAGCATAGGCTGGATGGTCAGTCCACAGCCTCCTTCAACCTTCTCAAACAGCCCGTGAGAAAGGGACTGTGCTGGTCCCAGGTTAGAGATGCGGGACTGGGGGCTCAGGGAGGTTAAGGGGCTCAGGCTGGGGCCACCTCGCTGCGAGCCCTCTCCTTTCGCAGCACAGGCTCTGGGAGGGTTGTTTACCCAGAGGCCTGCAGGGAGGCACAGGGGGAAGCTGGGGCCTCGGGATCTGGGGAGGGAAGGAAGGCCGGGGAAAGTGGCCCGGAGAGAGAGGAAACAGTCTCCGGAAGCTGACAGGCTGCAAGACCGTCCCCTCCTGCTGCCTCCTGCCTGGAAAACATGTCCCAGAGTGGATGAGGCCTGTCCCCTTTAGGACTCAGGTCTGCAGGGGCCTGAGGGTCGCAGAGGGCTCCAGTGAGCTCTCCCTCTAATGCAGGGGGTGCAGGGGACTGACACCAGGGCAGTCGGGCACAGTCTTCCCTGGCTCTGAAGTGGGACCCTTCCCTCGGCCCAGTCCTCAGCATCTGTGGACTGGGCCTTGGCAATAGCCTCCTCAAGGGTCTCCTGCCTCCCTTGCCTCCTGTCCTGCCTCCCCTGGCCCCCAGTGACATTGTTCTCAAATGCAGACCTGGCCCAGTCTCTCCCTGCTCTAAAACTTCCCTGGCTTCCAGCATCCATGGATGAGGCCCTCACAGAGCCCCACAGCCTCACAGCCCAGCACCTGCCTTCTACTCTTTCTCCCCAGCCCCTCCACCAACCAAACCCCAGGGCCCTTTGAAAAATGTGCCTCTTCCTTAAGGCAGCTAGAAAGTTGTCTGAATAACCGCAGATCTACAATACCTGCAACGTGAAAGGTCCTCCCTGGGGCTGTGCAGAGCACCCCTCACCTGCACAGCCATAACTTGGCCTGGACGAGCCTCTCTAGCTCCCTCAAGATTCCCAGCAAAGTCCTGCGCTTTCAGGCTTCCAAACCTTTGCACAGGCTCACCCCCTCCAGCCTTGGAATACTCCCCCTCCTGTCAGGGTTAGGGTGATAAAGACGCCTCCTCCATGAAGCTCCCCACTTGGGTGTCCCAAGGGGAATTAATCTGTCTTCTCTGTGCTCCCAAAGCACACAGCTCCACCACGACAGGCCTCACTTTATGCTCTTTTGTGGATTTGAGCTGCAGATCCCGGTGCCTGTCCCAGCTTTGCTCCTCCCATGCCGTGTGGACTTGGCCTTTCTGAGCCTTTGTCTGGGTTGGTCAAGTGCACAGCAGGGCTGCCTCCCAGCAGGAGCCTTGGCCCTGATGCCCTTGGCTGTGTGCCTGGCAGCTGTTCGACCGGCACCTGTGCGTGCGCCAGCTGCGGTACTCAGGAATGATGGAGACCATCCGAATCCGCCGAGCTGGCTACCCCATCCGCTACAGCTTCGTAGAGTTTGTGGAGCGGTACCGTGTGCTGCTGCCAGGTGTGAAGCCGGCCTACAAGCAGGTACAGGGCTGAGTGCACAGAGGGCAGGAGGGGAGGGTCCCAGCTTTGGCTGGGCAAGGGTCCCAATTTTCTTATCAGGACCATGGGCGGGGCTTGACATCTGCTTGACCTCTCAGGTGCAGCACGGAAAATTGGGGTTCAGGTATTGGAATGCATCAGTGGGCTTCAGTTGCCATGTTCAGCTGGTGAGGACTTCACACATGGTGGTGTAAGGAACAAGACCAGGGCTGCCACGCGGGCCCTGGATGTCAGTTGTGAGAAAGGGTTTTGCAATCATACCATCCAGCTGAGCTAAGGAGAAAACTGGGGCTCAGAGAAGGCAGGACCCAGCTGAGGTCACACTTCGAGTCAGGGGCAGAGCTCGGGAAGAGCCCTGCCTCTCAGCCTCGGGGACACTCCGGAGGCCTTCCCACTGGAGAGGCTGTCCATTCCCTTGTGTTCCCCATCCTCACTCCAGGGCGACCTCCGCGGGACTTGCCAGCGCATGGCTGAGGCTGTGCTGGGCACCCACGATGACTGGCAGATAGGCAAAACCAAGATCTTTCTGAAGGTGAGCACAGATGCCTTCCCTGGGCTGCCCTGGGGGGGCTGTAAATTCCCATGATGTGGGCTGGGGTGCTCGGGAGAGGGAGGCAGTGCTGGGGCTTTGAGATCCTTTCTGCCGGGCTGTGGTGTGGCTGGAGGAGCAGGTGGGATCTGGCCTCTCTGGTGGGGAAGGGTAATTTGGTGTTTGAGATCATCTACAACCTGGGAGTGGGGTCAGAGCACTGACCACAGGTTACAAAGCACATGCCAGGGGCGGGCTGGCTGTTAGGCCCACAGCAGGGAGGCAGGGGTGCTGCTTGCCTTGGGGCCCTTTCTGAGCCTCATTTTCCCATCTGTAAATTGGGGTGTGCCTGTGTGGGGTCTCTTGAGTGTATCTTTAGGTTCCTTCCTGTGGTTTCCTGCCTGGCAGGGCCCATCCCGTGCTGGGGTCCGCAGCATGCCACCTGTCCGTCACTCTGTAGGGAGCTCAGCTCCCATTGCTGCCTGGGCAGCTGGGGAAGGAAGCAGGAAGCAAGGCCTGCGGGAGTCGCGGAGTCACAGCCTTGGAGACATGGCTGGGAGCTGGCAGTGGCAGGGCAGCCGCAGCAGGGACAGTGCGAGCTCCCAGTGCTGGGCTTCCCCATTTGCATTTCCGCTGTGCTAGATTTCTGGCTGTCCCGGATGACAGGGCTCCTTCCTCTGGTGTGGGGGGTGGGGCCTGGGCACTCCAAGGACAGCTGCAGGAGGGACAAGAACCAGCTCCGAACTGGAGGGAGCCTGCGGCCTCTTCTAATTCCTCTCCAGCCAAGGGGCTTCAGGCTAGGCCCTTTCTCTCCTTGCACCTGCATTTCCTCATCAGCAAGATGTGATGAATGTTCCCTGCCTGTGCCTCCCACAGCTGTCAGCCAGAAAGCACATTCCATGTGCCAGGCCCTGGGTGGGTGCTTTTCATCCATGAGCTCATTTAATCCTTGAAACAGTCCTGTGGAGAAGGAAATATTATACCCATTTCACAGGCTCAGAGAGAAGTGAGTTGCCTGAAACCAGGCAGCTAGGAAGCAGGGAGCAGGACTTCTAGTCTGGGAAGGTCTGATGCCCAGCCCCTGTGTGGGCAAAGTGGGGAAGGCAGGAATCATGATGGCATCTAGTACCAGGGAACTCGGAGGAGCTCCATCAGCCCCTGACTTACACTGCTAGGCTCTTCCGATATGGCCTTGGTTTTGAGAGGCCAAACATGCTCATTCATCCATTCATTCATTCAGAATGCCTCGGCTGAGCATCTCCTCTGTCAGGGCCCTGTGTGTCTGTGATTATCTGATGGATTTGGCTCCCTCATGAGACTCTACCCTCCCCAAGGGCAGGGGCCATGTCTCCCTGGTTCATTGTGGCAGCCCCTCCCCTCCCCAGCATCTAGCACAGTGCCAGCACATG
|
ACACTTAGCAGCCAGTTCAAGCGGTCACTGGAGCTGCTGATGCGCACGCTGGGTGCCTGCCAGCCCTTCTTTGTGCGATGCATCAAGCCCAATGAGTTCAAGAAGCCCATGGTGAGTGGCCCTGGCCTGGGGTTGGCGGGTGGCGGCTAGGGTGACGTGGAGGAGCTAGGTCAAGAATAAGGTAGGGTGGGAGTGAAGGATGTGAGACTTTGTCCCTTTGGGGAATGGGGGGCACCCCGGGAGCTTACAAAACAAGGCCCCCTATTTATTGGAGGCAGCAGGTGCCTTGGAAAGAGCCTAGACTCTGCGGGGGGTTGCAGCAGGTTCAGATCCTGCCTCTACCATGTACAAGTGGGCGACTGCAGACAAAGCAGTTTCTTCTCTTATGCCTCAGTTTCCTCATAGATGGAAACGGGACTGACCGTATCTACCTCCTAAGGCTATTCCATGCAGTAATGCTTGCAGATGCCCACACCCAGCAAGTGCCCAGTGATTGGCAGCTGTGGTTCTTGCTGGGGCTGCTTCTTTGAAAGTCCCCTTCTCCTTTGGCCCAGCTCAACCACCACCTCCTCCTGGAAGCCTCCCCCATCTCTTCAGCTGGTTGGGATATCCTCATTCTTGACTTTTCTGAATAACATTTGTTGGGCCCTTTCTGTGTGCCCAGCATAGGCTGGATGGTCAGTCCACAGCCTCCTTCAACCTTCTCAAACAGCCCGTGAGAAAGGGACTGTGCTGGTCCCAGGTTAGAGATGCGGGACTGGGGGCTCAGGGAGGTTAAGGGGCTCAGGCTGGGGCCACCTCGCTGCGAGCCCTCTCCTTTCGCAGCACAGGCTCTGGGAGGGTTGTTTACCCAGAGGCCTGCAGGGAGGCACAGGGGGAAGCTGGGGCCTCGGGATCTGGGGAGGGAAGGAAGGCCGGGGAAAGTGGCCCGGAGAGAGAGGAAACAGTCTCCGGAAGCTGACAGGCTGCAAGACCGTCCCCTCCTGCTGCCTCCTGCCTGGAAAACATGTCCCAGAGTGGATGAGGCCTGTCCCCTTTAGGACTCAGGTCTGCAGGGGCCTGAGGGTCGCAGAGGGCTCCAGTGAGCTCTCCCTCTAATGCAGGGGGTGCAGGGGACTGACACCAGGGCAGTCGGGCACAGTCTTCCCTGGCTCTGAAGTGGGACCCTTCCCTCGGCCCAGTCCTCAGCATCTGTGGACTGGGCCTTGGCAATAGCCTCCTCAAGGGTCTCCTGCCTCCCTTGCCTCCTGTCCTGCCTCCCCTGGCCCCCAGTGACATTGTTCTCAAATGCAGACCTGGCCCAGTCTCTCCCTGCTCTAAAACTTCCCTGGCTTCCAGCATCCATGGATGAGGCCCTCACAGAGCCCCACAGCCTCACAGCCCAGCACCTGCCTTCTACTCTTTCTCCCCAGCCCCTCCACCAACCAAACCCCAGGGCCCTTTGAAAAATGTGCCTCTTCCTTAAGGCAGCTAGAAAGTTGTCTGAATAACCGCAGATCTACAATACCTGCAACGTGAAAGGTCCTCCCTGGGGCTGTGCAGAGCACCCCTCACCTGCACAGCCATAACTTGGCCTGGACGAGCCTCTCTAGCTCCCTCAAGATTCCCAGCAAAGTCCTGCGCTTTCAGGCTTCCAAACCTTTGCACAGGCTCACCCCCTCCAGCCTTGGAATACTCCCCCTCCTGTCAGGGTTAGGGTGATAAAGACGCCTCCTCCATGAAGCTCCCCACTTGGGTGTCCCAAGGGGAATTAATCTGTCTTCTCTGTGCTCCCAAAGCACACAGCTCCACCACGACAGGCCTCACTTTATGCTCTTTTGTGGATTTGAGCTGCAGATCCCGGTGCCTGTCCCAGCTTTGCTCCTCCCATGCCGTGTGGACTTGGCCTTTCTGAGCCTTTGTCTGGGTTGGTCAAGTGCACAGCAGGGCTGCCTCCCAGCAGGAGCCTTGGCCCTGATGCCCTTGGCTGTGTGCCTGGCAGCTGTTCGACCGGCACCTGTGCGTGCGCCAGCTGCGGTACTCAGGAATGATGGAGACCATCCGAATCCACCGAGCTGGCTACCCCATCCGCTACAGCTTCGTAGAGTTTGTGGAGCGGTACCGTGTGCTGCTGCCAGGTGTGAAGCCGGCCTACAAGCAGGTACAGGGCTGAGTGCACAGAGGGCAGGAGGGGAGGGTCCCAGCTTTGGCTGGGCAAGGGTCCCAATTTTCTTATCAGGACCATGGGCGGGGCTTGACATCTGCTTGACCTCTCAGGTGCAGCACGGAAAATTGGGGTTCAGGTATTGGAATGCATCAGTGGGCTTCAGTTGCCATGTTCAGCTGGTGAGGACTTCACACATGGTGGTGTAAGGAACAAGACCAGGGCTGCCACGCGGGCCCTGGATGTCAGTTGTGAGAAAGGGTTTTGCAATCATACCATCCAGCTGAGCTAAGGAGAAAACTGGGGCTCAGAGAAGGCAGGACCCAGCTGAGGTCACACTTCGAGTCAGGGGCAGAGCTCGGGAAGAGCCCTGCCTCTCAGCCTCGGGGACACTCCGGAGGCCTTCCCACTGGAGAGGCTGTCCATTCCCTTGTGTTCCCCATCCTCACTCCAGGGCGACCTCCGCGGGACTTGCCAGCGCATGGCTGAGGCTGTGCTGGGCACCCACGATGACTGGCAGATAGGCAAAACCAAGATCTTTCTGAAGGTGAGCACAGATGCCTTCCCTGGGCTGCCCTGGGGGGGCTGTAAATTCCCATGATGTGGGCTGGGGTGCTCGGGAGAGGGAGGCAGTGCTGGGGCTTTGAGATCCTTTCTGCCGGGCTGTGGTGTGGCTGGAGGAGCAGGTGGGATCTGGCCTCTCTGGTGGGGAAGGGTAATTTGGTGTTTGAGATCATCTACAACCTGGGAGTGGGGTCAGAGCACTGACCACAGGTTACAAAGCACATGCCAGGGGCGGGCTGGCTGTTAGGCCCACAGCAGGGAGGCAGGGGTGCTGCTTGCCTTGGGGCCCTTTCTGAGCCTCATTTTCCCATCTGTAAATTGGGGTGTGCCTGTGTGGGGTCTCTTGAGTGTATCTTTAGGTTCCTTCCTGTGGTTTCCTGCCTGGCAGGGCCCATCCCGTGCTGGGGTCCGCAGCATGCCACCTGTCCGTCACTCTGTAGGGAGCTCAGCTCCCATTGCTGCCTGGGCAGCTGGGGAAGGAAGCAGGAAGCAAGGCCTGCGGGAGTCGCGGAGTCACAGCCTTGGAGACATGGCTGGGAGCTGGCAGTGGCAGGGCAGCCGCAGCAGGGACAGTGCGAGCTCCCAGTGCTGGGCTTCCCCATTTGCATTTCCGCTGTGCTAGATTTCTGGCTGTCCCGGATGACAGGGCTCCTTCCTCTGGTGTGGGGGGTGGGGCCTGGGCACTCCAAGGACAGCTGCAGGAGGGACAAGAACCAGCTCCGAACTGGAGGGAGCCTGCGGCCTCTTCTAATTCCTCTCCAGCCAAGGGGCTTCAGGCTAGGCCCTTTCTCTCCTTGCACCTGCATTTCCTCATCAGCAAGATGTGATGAATGTTCCCTGCCTGTGCCTCCCACAGCTGTCAGCCAGAAAGCACATTCCATGTGCCAGGCCCTGGGTGGGTGCTTTTCATCCATGAGCTCATTTAATCCTTGAAACAGTCCTGTGGAGAAGGAAATATTATACCCATTTCACAGGCTCAGAGAGAAGTGAGTTGCCTGAAACCAGGCAGCTAGGAAGCAGGGAGCAGGACTTCTAGTCTGGGAAGGTCTGATGCCCAGCCCCTGTGTGGGCAAAGTGGGGAAGGCAGGAATCATGATGGCATCTAGTACCAGGGAACTCGGAGGAGCTCCATCAGCCCCTGACTTACACTGCTAGGCTCTTCCGATATGGCCTTGGTTTTGAGAGGCCAAACATGCTCATTCATCCATTCATTCATTCAGAATGCCTCGGCTGAGCATCTCCTCTGTCAGGGCCCTGTGTGTCTGTGATTATCTGATGGATTTGGCTCCCTCATGAGACTCTACCCTCCCCAAGGGCAGGGGCCATGTCTCCCTGGTTCATTGTGGCAGCCCCTCCCCTCCCCAGCATCTAGCACAGTGCCAGCACATG
|
Task1_train_16332
|
A variant was discovered on Chromosome 11, affecting MYO7A (myosin VIIA). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
|
Pathogenic; not provided
|
TCTGCCCGCATGAACACTAGGAAAAAAACGTGTTCACCTATGAAACAAGTGCACACATGCATGGCATGCACACATGATCATGTAAACACAGAGGAACATAGATACATGATTTACATGGACCCATTGTGCCACGTAAGCCAAATAATGCAATACATTCACCTACATATGCACATGCACACGTAGATACATGAGACTCACATGTGGACCCACTGTTCATGTCAGATGCTGATGAAATTTTGCAAAGAGGAAATTTGAGATTTTATAAATTATTAATACAAAATGTGTCTCATATTCTATCTAAGGGATATGTGTACACGTGACAATTCACAAATGTGCAGGACTGACTCCAAAGTGTGATTAAAGCTCTGCAAAAATTCCACAATGCACCCCTTTGCAGTTCATATGGTCACTCTCTCCCTTCTTCCACTCGTCCACCCACCTACCTATCCATCCGTCCGTTCACCCACCCACCTACCCATCCATCCATCCATCCATCTGCCCACCTATTCACCCATCCATCCATCCATCCATCCACCCGCCCACACACCCACCTAGTCACTCATCCATCCACCTATCCACCCACACATTCATCCATCAATTCACCCACCAACCCATCCACCATCCATCCATCCACCCACCCACCCATCCATTCACTCATCAGTCCACCCACCCATCCACCTACCCATTCATTCCTCCATTCATCCATTCACCCACCCACTCCCACAGTTGCTCATTTGCTTATGTGTGTCTCCAAGCATTGACTTATTGGCTCACTTGCATACTTGCACACCCATCCTTCGCTCTTCCTTTATTTATTTCTACATTCAGCAGACCCCTGCTGTCTGTGCATGGTCTCTGTCCTCTATCAGGCTGAAGATGACTGTTCTCCTATAGAAGCAGCCTGCTGTGTGCAGGGGGAACAGCACTGGGCTCACTTAGGGTCAGTCAGAAGACATGGGCTCTAGTCCCAACCTATCAAGTCTCAGTTGCCTCATGTATAAACTGAGGAAGTTAGACTGTTCAAAGCTTTTGATCTTTATATTATTTTAATTACTTATTTTTTCATACATTTATTCATTCAACAAATACCTTTTGAATGTCTACCTTCATGGGCTTATGTGACAGGCCTGTGGGGCAGGCAGGGCAGGCATTATTCTACACATTGTACGGATGAGGAAGCTGAGGCACAGAAGTTATGTGCCTTGCCCAAGGTCATATAGCTAGGAAGTCACAGAGCTGGGACTCAGCGTGCCCTCCTGATCCCAAACCCACCTGTACCCTGGCTGCCTCTGGACACTGCTCACCCGCGCCACTACTGCTGTTTCAGGTCTAACTTTCTGAAGCTGAAGAACGCTGCCACACTGATCCAGAGGCACTGGCGGGGTCACAACTGTAGGAAGAACTACGGGCTGGTGAGCCTCCCCATGGGCTGCTCTTGCCCAAACAGGCCTTTGAACCCAGCCTTGCTGCCATGGCAGTGGGACTGGCCTGCACCCAGGCAGCACAGCCTGGCCTCGTTGGCCTCCTGCCACTGCCCTGGCCAGCCACTACCATTCCTCCAGACCGAAGTCTGGATCTGGCTCTTGTGGCTTCTTCCAACTGGCCAGCAATGTTTGTTGCTCTCCTTCTGGAGTGTTTTTGGGGGTTGGGAGCACTCTGGGATTATTAGAGATCTCAGACAGGGTGAGAGTGGCTGGGTCACATGGACCTCTGTGCAGCAGCTGGGCTTAGGACTTGTTGGGGCTGGATGGGAAGCAGACTGGTTGGTTGCAGCTCCTGATCTAGGATTCTCTTGGGGGCCCCAACTCAGGGAGAGTCAAGGTCACCTAAAAATATGTTGCCTGAGAGGAAACAGAACTTTCTAACGATGGGGGGGCACTAATCTGAGAGGAGACTGGGCCACGCCTTCTGGGGGTGCCTGTCTGAGAGTGGAGGCCGGTGCCATGGAAGCTCCTGCAGGCAGGGTCAGTCTGGAATGGGACAGCAGGCTCTGAGCATGGGGTGGCTGTCCTTGCAGATGCGTCTGGGCTTCCTGCGGCTGCAGGCCCTGCACCGCTCCCGGAAGCTGCACCAGCAGTACCGCCTGGCCCGCCAGCGCATCATCCAGTTCCAGGCCCGCTGCCGCGCCTATCTGGTGCGCAAGGCCTTCCGCCACCGCCTCTGGGCTGTGCTCACCGTGCAGGCCTATGCCCGGGGCATGATCGCCCGCAGGCTGCACCAACGCCTCAGGGCTGAGGTGAGGGAGCAAGTCCATAGCACCCACAGCTCTGACCCCTGGGCGAGGAGTGTCCATGCATCACCCTCAGGTGTTGGCCAGGAAGTGGGACCTATAGGGGGGACCTGCAGTTATGCCTGCTCTGAGGAGTGCACATACCTGGGACCAGACCCTCATTTCCATCCTCTCAGCCAAGGGCAGGGCTGGGACCTCAGTCACTCTTGGGAATCTCTGGGAGACCGACGCAGATCTGGCCGGGCTTTAGGATCAGTGGTGCCTCCAGCCCGCTGGGTGACCTAGAGAATTTCTTGATTACCTCACTTGTCCTATCAAAGTCATGCCCAGTTCCAGAACTCAGAGTTGGGTGGGTGGAGCTGGTGGGAATCCCTGCAACAACAGCTACACACATTTCCATGCCCTCTGGATGCCCCCTTCCCTCAGTATCTGTGGCGCCTCGAGGCTGAGAAAATGCGGCTGGCGGAGGAAGAGAAGCTTCGGAAGGAGATGAGCGCCAAGAAGGCCAAGGAGGAGGCCGAGCGCAAGCATCAGGTGAGCTGAGAGCCTCCAGGCACCTTAGGTGTCCACTTGCTGGCTTGTCCCCTCCCCGAGGCTGGCTTCTCATCTGTCACCCGGTGCTGCAGCCTTCCTTCCATCCTTCAGAATGGCCACACTAGACCCACTCAGCCAGCATTGCCTGAGCTCTCGCTGGGCACCTGGTCCTGTGCCATGCAAAAGGATGAAGGGCTGTGGTGGCTCCAGAGGAAGAGGCCCAGGCCCTCAGCAGCCCCTTTCTAGTTGTTGAGATAACACCCTGGTAAAAGCACAAGCCAGCTGACGGCACGAGGGTGCTACACTGCCCAATAGAGAGCCACCAGCCACAGTGGCAACTGAACACTTGCAGTGTGGCCTGTCCGAATGACACAGTGCTTTAAGTGTGAAATACTAGATTTTGAAGATTTGGTGGGGGAAAAATGAATATAAAATATCTCAGTATTATTTTTATAATATGGATTACATGCTAAGTTAATATTTGGGAAATATTGAGTTAAATATACTGCTAAGACTAATCCCACCTATTCCTTTTTGCTTTTTAAAACGTGGCTACTATATGGGTGGCTCACATTGTATTCCTATTGGGCAACACTGGTCTAGAGCCTCAAGCCAATGGCCGTGGGATGTCTGGGTTGGTGTGGTCCCCATGGAGCAGGCTCCTGGAGGAGGTGGCTCCCTGAGAGCCCTGAAGGACGGGCAGGATTGTTATTTGGCTTGTTGAGAGGCCTCTGAGTGGTCCAGAGGTGGGGAAGTCAGAGGCTCCATTCTTCCCAGCGGTCAGGAGGTGGGGACTGAGGCCCTGGCTGCTGCAGGGGCTCCCCAGGGAGAGCTTGTTCCCTGAGGCTGTGGCACCGGGGGCTGACCCCGTGTCTTCTGTGTCACCCCAATTGCCCAGGAGCGCCTGGCCCAGCTGGCTCGTGAGGACGCTGAGCGGGAGCTGAAGGAGAAGGAGGCCGCTCGGCGGAAGAAGGAGCTCCTGGAGCAGATGGAAAGGGCCCGCCATGAGCCTGTCAATCACTCAGACATGGTGGACAAGATGTTTGGCTTCCTGGGGACTTCAGGTGGCCTGCCAGGCCAGGAGGGCCAGGCACCTAGTGGCTTTGAGGTACCAGGCTAGGGACAGGGGCTCCAGAGGCCCACACACACCGCTTGTGTTGATCCTCCCTCCTTCTGTGCCCTTGGCCTTAAAGCCCACCCAGTCCCTCTGAACAGTGGGGAGCAGAGATGAACTGGGTCCGGGCTGCAGGTCCCAGGTCCTGTCCCTCTCCAACGCCCTTCTCAAGTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTC
|
TCTGCCCGCATGAACACTAGGAAAAAAACGTGTTCACCTATGAAACAAGTGCACACATGCATGGCATGCACACATGATCATGTAAACACAGAGGAACATAGATACATGATTTACATGGACCCATTGTGCCACGTAAGCCAAATAATGCAATACATTCACCTACATATGCACATGCACACGTAGATACATGAGACTCACATGTGGACCCACTGTTCATGTCAGATGCTGATGAAATTTTGCAAAGAGGAAATTTGAGATTTTATAAATTATTAATACAAAATGTGTCTCATATTCTATCTAAGGGATATGTGTACACGTGACAATTCACAAATGTGCAGGACTGACTCCAAAGTGTGATTAAAGCTCTGCAAAAATTCCACAATGCACCCCTTTGCAGTTCATATGGTCACTCTCTCCCTTCTTCCACTCGTCCACCCACCTACCTATCCATCCGTCCGTTCACCCACCCACCTACCCATCCATCCATCCATCCATCTGCCCACCTATTCACCCATCCATCCATCCATCCATCCACCCGCCCACACACCCACCTAGTCACTCATCCATCCACCTATCCACCCACACATTCATCCATCAATTCACCCACCAACCCATCCACCATCCATCCATCCACCCACCCACCCATCCATTCACTCATCAGTCCACCCACCCATCCACCTACCCATTCATTCCTCCATTCATCCATTCACCCACCCACTCCCACAGTTGCTCATTTGCTTATGTGTGTCTCCAAGCATTGACTTATTGGCTCACTTGCATACTTGCACACCCATCCTTCGCTCTTCCTTTATTTATTTCTACATTCAGCAGACCCCTGCTGTCTGTGCATGGTCTCTGTCCTCTATCAGGCTGAAGATGACTGTTCTCCTATAGAAGCAGCCTGCTGTGTGCAGGGGGAACAGCACTGGGCTCACTTAGGGTCAGTCAGAAGACATGGGCTCTAGTCCCAACCTATCAAGTCTCAGTTGCCTCATGTATAAACTGAGGAAGTTAGACTGTTCAAAGCTTTTGATCTTTATATTATTTTAATTACTTATTTTTTCATACATTTATTCATTCAACAAATACCTTTTGAATGTCTACCTTCATGGGCTTATGTGACAGGCCTGTGGGGCAGGCAGGGCAGGCATTATTCTACACATTGTACGGATGAGGAAGCTGAGGCACAGAAGTTATGTGCCTTGCCCAAGGTCATATAGCTAGGAAGTCACAGAGCTGGGACTCAGCGTGCCCTCCTGATCCCAAACCCACCTGTACCCTGGCTGCCTCTGGACACTGCTCACCCGCGCCACTACTGCTGTTTCAGGTCTAACTTTCTGAAGCTGAAGAACGCTGCCACACTGATCCAGAGGCACTGGCGGGGTCACAACTGTAGGAAGAACTACGGGCTGGTGAGCCTCCCCATGGGCTGCTCTTGCCCAAACAGGCCTTTGAACCCAGCCTTGCTGCCATGGCAGTGGGACTGGCCTGCACCCAGGCAGCACAGCCTGGCCTCGTTGGCCTCCTGCCACTGCCCTGGCCAGCCACTACCATTCCTCCAGACCGAAGTCTGGATCTGGCTCTTGTGGCTTCTTCCAACTGGCCAGCAATGTTTGTTGCTCTCCTTCTGGAGTGTTTTTGGGGGTTGGGAGCACTCTGGGATTATTAGAGATCTCAGACAGGGTGAGAGTGGCTGGGTCACATGGACCTCTGTGCAGCAGCTGGGCTTAGGACTTGTTGGGGCTGGATGGGAAGCAGACTGGTTGGTTGCAGCTCCTGATCTAGGATTCTCTTGGGGGCCCCAACTCAGGGAGAGTCAAGGTCACCTAAAAATATGTTGCCTGAGAGGAAACAGAACTTTCTAACGATGGGGGGGCACTAATCTGAGAGGAGACTGGGCCACGCCTTCTGGGGGTGCCTGTCTGAGAGTGGAGGCCGGTGCCATGGAAGCTCCTGCAGGCAGGGTCAGTCTGGAATGGGACAGCAGGCTCTGAGCATGGGGTGGCTGTCCTTGCAGATGCGTCTGGGCTTCCTGCGGCTGCAGGCCCCGCACCGCTCCCGGAAGCTGCACCAGCAGTACCGCCTGGCCCGCCAGCGCATCATCCAGTTCCAGGCCCGCTGCCGCGCCTATCTGGTGCGCAAGGCCTTCCGCCACCGCCTCTGGGCTGTGCTCACCGTGCAGGCCTATGCCCGGGGCATGATCGCCCGCAGGCTGCACCAACGCCTCAGGGCTGAGGTGAGGGAGCAAGTCCATAGCACCCACAGCTCTGACCCCTGGGCGAGGAGTGTCCATGCATCACCCTCAGGTGTTGGCCAGGAAGTGGGACCTATAGGGGGGACCTGCAGTTATGCCTGCTCTGAGGAGTGCACATACCTGGGACCAGACCCTCATTTCCATCCTCTCAGCCAAGGGCAGGGCTGGGACCTCAGTCACTCTTGGGAATCTCTGGGAGACCGACGCAGATCTGGCCGGGCTTTAGGATCAGTGGTGCCTCCAGCCCGCTGGGTGACCTAGAGAATTTCTTGATTACCTCACTTGTCCTATCAAAGTCATGCCCAGTTCCAGAACTCAGAGTTGGGTGGGTGGAGCTGGTGGGAATCCCTGCAACAACAGCTACACACATTTCCATGCCCTCTGGATGCCCCCTTCCCTCAGTATCTGTGGCGCCTCGAGGCTGAGAAAATGCGGCTGGCGGAGGAAGAGAAGCTTCGGAAGGAGATGAGCGCCAAGAAGGCCAAGGAGGAGGCCGAGCGCAAGCATCAGGTGAGCTGAGAGCCTCCAGGCACCTTAGGTGTCCACTTGCTGGCTTGTCCCCTCCCCGAGGCTGGCTTCTCATCTGTCACCCGGTGCTGCAGCCTTCCTTCCATCCTTCAGAATGGCCACACTAGACCCACTCAGCCAGCATTGCCTGAGCTCTCGCTGGGCACCTGGTCCTGTGCCATGCAAAAGGATGAAGGGCTGTGGTGGCTCCAGAGGAAGAGGCCCAGGCCCTCAGCAGCCCCTTTCTAGTTGTTGAGATAACACCCTGGTAAAAGCACAAGCCAGCTGACGGCACGAGGGTGCTACACTGCCCAATAGAGAGCCACCAGCCACAGTGGCAACTGAACACTTGCAGTGTGGCCTGTCCGAATGACACAGTGCTTTAAGTGTGAAATACTAGATTTTGAAGATTTGGTGGGGGAAAAATGAATATAAAATATCTCAGTATTATTTTTATAATATGGATTACATGCTAAGTTAATATTTGGGAAATATTGAGTTAAATATACTGCTAAGACTAATCCCACCTATTCCTTTTTGCTTTTTAAAACGTGGCTACTATATGGGTGGCTCACATTGTATTCCTATTGGGCAACACTGGTCTAGAGCCTCAAGCCAATGGCCGTGGGATGTCTGGGTTGGTGTGGTCCCCATGGAGCAGGCTCCTGGAGGAGGTGGCTCCCTGAGAGCCCTGAAGGACGGGCAGGATTGTTATTTGGCTTGTTGAGAGGCCTCTGAGTGGTCCAGAGGTGGGGAAGTCAGAGGCTCCATTCTTCCCAGCGGTCAGGAGGTGGGGACTGAGGCCCTGGCTGCTGCAGGGGCTCCCCAGGGAGAGCTTGTTCCCTGAGGCTGTGGCACCGGGGGCTGACCCCGTGTCTTCTGTGTCACCCCAATTGCCCAGGAGCGCCTGGCCCAGCTGGCTCGTGAGGACGCTGAGCGGGAGCTGAAGGAGAAGGAGGCCGCTCGGCGGAAGAAGGAGCTCCTGGAGCAGATGGAAAGGGCCCGCCATGAGCCTGTCAATCACTCAGACATGGTGGACAAGATGTTTGGCTTCCTGGGGACTTCAGGTGGCCTGCCAGGCCAGGAGGGCCAGGCACCTAGTGGCTTTGAGGTACCAGGCTAGGGACAGGGGCTCCAGAGGCCCACACACACCGCTTGTGTTGATCCTCCCTCCTTCTGTGCCCTTGGCCTTAAAGCCCACCCAGTCCCTCTGAACAGTGGGGAGCAGAGATGAACTGGGTCCGGGCTGCAGGTCCCAGGTCCTGTCCCTCTCCAACGCCCTTCTCAAGTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTC
|
Task1_train_16333
|
A variant was discovered on Chromosome 11, affecting MYO7A (myosin VIIA). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
|
Pathogenic; Autosomal dominant nonsyndromic hearing loss 11
|
CCTACATATGCACATGCACACGTAGATACATGAGACTCACATGTGGACCCACTGTTCATGTCAGATGCTGATGAAATTTTGCAAAGAGGAAATTTGAGATTTTATAAATTATTAATACAAAATGTGTCTCATATTCTATCTAAGGGATATGTGTACACGTGACAATTCACAAATGTGCAGGACTGACTCCAAAGTGTGATTAAAGCTCTGCAAAAATTCCACAATGCACCCCTTTGCAGTTCATATGGTCACTCTCTCCCTTCTTCCACTCGTCCACCCACCTACCTATCCATCCGTCCGTTCACCCACCCACCTACCCATCCATCCATCCATCCATCTGCCCACCTATTCACCCATCCATCCATCCATCCATCCACCCGCCCACACACCCACCTAGTCACTCATCCATCCACCTATCCACCCACACATTCATCCATCAATTCACCCACCAACCCATCCACCATCCATCCATCCACCCACCCACCCATCCATTCACTCATCAGTCCACCCACCCATCCACCTACCCATTCATTCCTCCATTCATCCATTCACCCACCCACTCCCACAGTTGCTCATTTGCTTATGTGTGTCTCCAAGCATTGACTTATTGGCTCACTTGCATACTTGCACACCCATCCTTCGCTCTTCCTTTATTTATTTCTACATTCAGCAGACCCCTGCTGTCTGTGCATGGTCTCTGTCCTCTATCAGGCTGAAGATGACTGTTCTCCTATAGAAGCAGCCTGCTGTGTGCAGGGGGAACAGCACTGGGCTCACTTAGGGTCAGTCAGAAGACATGGGCTCTAGTCCCAACCTATCAAGTCTCAGTTGCCTCATGTATAAACTGAGGAAGTTAGACTGTTCAAAGCTTTTGATCTTTATATTATTTTAATTACTTATTTTTTCATACATTTATTCATTCAACAAATACCTTTTGAATGTCTACCTTCATGGGCTTATGTGACAGGCCTGTGGGGCAGGCAGGGCAGGCATTATTCTACACATTGTACGGATGAGGAAGCTGAGGCACAGAAGTTATGTGCCTTGCCCAAGGTCATATAGCTAGGAAGTCACAGAGCTGGGACTCAGCGTGCCCTCCTGATCCCAAACCCACCTGTACCCTGGCTGCCTCTGGACACTGCTCACCCGCGCCACTACTGCTGTTTCAGGTCTAACTTTCTGAAGCTGAAGAACGCTGCCACACTGATCCAGAGGCACTGGCGGGGTCACAACTGTAGGAAGAACTACGGGCTGGTGAGCCTCCCCATGGGCTGCTCTTGCCCAAACAGGCCTTTGAACCCAGCCTTGCTGCCATGGCAGTGGGACTGGCCTGCACCCAGGCAGCACAGCCTGGCCTCGTTGGCCTCCTGCCACTGCCCTGGCCAGCCACTACCATTCCTCCAGACCGAAGTCTGGATCTGGCTCTTGTGGCTTCTTCCAACTGGCCAGCAATGTTTGTTGCTCTCCTTCTGGAGTGTTTTTGGGGGTTGGGAGCACTCTGGGATTATTAGAGATCTCAGACAGGGTGAGAGTGGCTGGGTCACATGGACCTCTGTGCAGCAGCTGGGCTTAGGACTTGTTGGGGCTGGATGGGAAGCAGACTGGTTGGTTGCAGCTCCTGATCTAGGATTCTCTTGGGGGCCCCAACTCAGGGAGAGTCAAGGTCACCTAAAAATATGTTGCCTGAGAGGAAACAGAACTTTCTAACGATGGGGGGGCACTAATCTGAGAGGAGACTGGGCCACGCCTTCTGGGGGTGCCTGTCTGAGAGTGGAGGCCGGTGCCATGGAAGCTCCTGCAGGCAGGGTCAGTCTGGAATGGGACAGCAGGCTCTGAGCATGGGGTGGCTGTCCTTGCAGATGCGTCTGGGCTTCCTGCGGCTGCAGGCCCTGCACCGCTCCCGGAAGCTGCACCAGCAGTACCGCCTGGCCCGCCAGCGCATCATCCAGTTCCAGGCCCGCTGCCGCGCCTATCTGGTGCGCAAGGCCTTCCGCCACCGCCTCTGGGCTGTGCTCACCGTGCAGGCCTATGCCCGGGGCATGATCGCCCGCAGGCTGCACCAACGCCTCAGGGCTGAGGTGAGGGAGCAAGTCCATAGCACCCACAGCTCTGACCCCTGGGCGAGGAGTGTCCATGCATCACCCTCAGGTGTTGGCCAGGAAGTGGGACCTATAGGGGGGACCTGCAGTTATGCCTGCTCTGAGGAGTGCACATACCTGGGACCAGACCCTCATTTCCATCCTCTCAGCCAAGGGCAGGGCTGGGACCTCAGTCACTCTTGGGAATCTCTGGGAGACCGACGCAGATCTGGCCGGGCTTTAGGATCAGTGGTGCCTCCAGCCCGCTGGGTGACCTAGAGAATTTCTTGATTACCTCACTTGTCCTATCAAAGTCATGCCCAGTTCCAGAACTCAGAGTTGGGTGGGTGGAGCTGGTGGGAATCCCTGCAACAACAGCTACACACATTTCCATGCCCTCTGGATGCCCCCTTCCCTCAGTATCTGTGGCGCCTCGAGGCTGAGAAAATGCGGCTGGCGGAGGAAGAGAAGCTTCGGAAGGAGATGAGCGCCAAGAAGGCCAAGGAGGAGGCCGAGCGCAAGCATCAGGTGAGCTGAGAGCCTCCAGGCACCTTAGGTGTCCACTTGCTGGCTTGTCCCCTCCCCGAGGCTGGCTTCTCATCTGTCACCCGGTGCTGCAGCCTTCCTTCCATCCTTCAGAATGGCCACACTAGACCCACTCAGCCAGCATTGCCTGAGCTCTCGCTGGGCACCTGGTCCTGTGCCATGCAAAAGGATGAAGGGCTGTGGTGGCTCCAGAGGAAGAGGCCCAGGCCCTCAGCAGCCCCTTTCTAGTTGTTGAGATAACACCCTGGTAAAAGCACAAGCCAGCTGACGGCACGAGGGTGCTACACTGCCCAATAGAGAGCCACCAGCCACAGTGGCAACTGAACACTTGCAGTGTGGCCTGTCCGAATGACACAGTGCTTTAAGTGTGAAATACTAGATTTTGAAGATTTGGTGGGGGAAAAATGAATATAAAATATCTCAGTATTATTTTTATAATATGGATTACATGCTAAGTTAATATTTGGGAAATATTGAGTTAAATATACTGCTAAGACTAATCCCACCTATTCCTTTTTGCTTTTTAAAACGTGGCTACTATATGGGTGGCTCACATTGTATTCCTATTGGGCAACACTGGTCTAGAGCCTCAAGCCAATGGCCGTGGGATGTCTGGGTTGGTGTGGTCCCCATGGAGCAGGCTCCTGGAGGAGGTGGCTCCCTGAGAGCCCTGAAGGACGGGCAGGATTGTTATTTGGCTTGTTGAGAGGCCTCTGAGTGGTCCAGAGGTGGGGAAGTCAGAGGCTCCATTCTTCCCAGCGGTCAGGAGGTGGGGACTGAGGCCCTGGCTGCTGCAGGGGCTCCCCAGGGAGAGCTTGTTCCCTGAGGCTGTGGCACCGGGGGCTGACCCCGTGTCTTCTGTGTCACCCCAATTGCCCAGGAGCGCCTGGCCCAGCTGGCTCGTGAGGACGCTGAGCGGGAGCTGAAGGAGAAGGAGGCCGCTCGGCGGAAGAAGGAGCTCCTGGAGCAGATGGAAAGGGCCCGCCATGAGCCTGTCAATCACTCAGACATGGTGGACAAGATGTTTGGCTTCCTGGGGACTTCAGGTGGCCTGCCAGGCCAGGAGGGCCAGGCACCTAGTGGCTTTGAGGTACCAGGCTAGGGACAGGGGCTCCAGAGGCCCACACACACCGCTTGTGTTGATCCTCCCTCCTTCTGTGCCCTTGGCCTTAAAGCCCACCCAGTCCCTCTGAACAGTGGGGAGCAGAGATGAACTGGGTCCGGGCTGCAGGTCCCAGGTCCTGTCCCTCTCCAACGCCCTTCTCAAGTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTCGTACCCTGTTGCTCAGGCTGGAGTGCAGTAGCGTGATCACAGCTCACTGCAGCCTTGAACTTCTGGGCTCAGGCGATCCTCCCACCTGAGCTTCCTGAGTAGCTGGGACTCCAGGGCATACCTCTTGTCTCCTTCAGGACCTGGAGCGAGGGCGGAGG
|
CCTACATATGCACATGCACACGTAGATACATGAGACTCACATGTGGACCCACTGTTCATGTCAGATGCTGATGAAATTTTGCAAAGAGGAAATTTGAGATTTTATAAATTATTAATACAAAATGTGTCTCATATTCTATCTAAGGGATATGTGTACACGTGACAATTCACAAATGTGCAGGACTGACTCCAAAGTGTGATTAAAGCTCTGCAAAAATTCCACAATGCACCCCTTTGCAGTTCATATGGTCACTCTCTCCCTTCTTCCACTCGTCCACCCACCTACCTATCCATCCGTCCGTTCACCCACCCACCTACCCATCCATCCATCCATCCATCTGCCCACCTATTCACCCATCCATCCATCCATCCATCCACCCGCCCACACACCCACCTAGTCACTCATCCATCCACCTATCCACCCACACATTCATCCATCAATTCACCCACCAACCCATCCACCATCCATCCATCCACCCACCCACCCATCCATTCACTCATCAGTCCACCCACCCATCCACCTACCCATTCATTCCTCCATTCATCCATTCACCCACCCACTCCCACAGTTGCTCATTTGCTTATGTGTGTCTCCAAGCATTGACTTATTGGCTCACTTGCATACTTGCACACCCATCCTTCGCTCTTCCTTTATTTATTTCTACATTCAGCAGACCCCTGCTGTCTGTGCATGGTCTCTGTCCTCTATCAGGCTGAAGATGACTGTTCTCCTATAGAAGCAGCCTGCTGTGTGCAGGGGGAACAGCACTGGGCTCACTTAGGGTCAGTCAGAAGACATGGGCTCTAGTCCCAACCTATCAAGTCTCAGTTGCCTCATGTATAAACTGAGGAAGTTAGACTGTTCAAAGCTTTTGATCTTTATATTATTTTAATTACTTATTTTTTCATACATTTATTCATTCAACAAATACCTTTTGAATGTCTACCTTCATGGGCTTATGTGACAGGCCTGTGGGGCAGGCAGGGCAGGCATTATTCTACACATTGTACGGATGAGGAAGCTGAGGCACAGAAGTTATGTGCCTTGCCCAAGGTCATATAGCTAGGAAGTCACAGAGCTGGGACTCAGCGTGCCCTCCTGATCCCAAACCCACCTGTACCCTGGCTGCCTCTGGACACTGCTCACCCGCGCCACTACTGCTGTTTCAGGTCTAACTTTCTGAAGCTGAAGAACGCTGCCACACTGATCCAGAGGCACTGGCGGGGTCACAACTGTAGGAAGAACTACGGGCTGGTGAGCCTCCCCATGGGCTGCTCTTGCCCAAACAGGCCTTTGAACCCAGCCTTGCTGCCATGGCAGTGGGACTGGCCTGCACCCAGGCAGCACAGCCTGGCCTCGTTGGCCTCCTGCCACTGCCCTGGCCAGCCACTACCATTCCTCCAGACCGAAGTCTGGATCTGGCTCTTGTGGCTTCTTCCAACTGGCCAGCAATGTTTGTTGCTCTCCTTCTGGAGTGTTTTTGGGGGTTGGGAGCACTCTGGGATTATTAGAGATCTCAGACAGGGTGAGAGTGGCTGGGTCACATGGACCTCTGTGCAGCAGCTGGGCTTAGGACTTGTTGGGGCTGGATGGGAAGCAGACTGGTTGGTTGCAGCTCCTGATCTAGGATTCTCTTGGGGGCCCCAACTCAGGGAGAGTCAAGGTCACCTAAAAATATGTTGCCTGAGAGGAAACAGAACTTTCTAACGATGGGGGGGCACTAATCTGAGAGGAGACTGGGCCACGCCTTCTGGGGGTGCCTGTCTGAGAGTGGAGGCCGGTGCCATGGAAGCTCCTGCAGGCAGGGTCAGTCTGGAATGGGACAGCAGGCTCTGAGCATGGGGTGGCTGTCCTTGCAGATGCGTCTGGGCTTCCTGCGGCTGCAGGCCCTGCACCGCTCCCGGAAGCTGCACCAGCAGTACCGCCTGGCCCGCCAGCGCATCATCCAGTTCCAGGCCCGCTGCCGCGCCTATCTGGTGCGCAAGGCCTTCCGCCACCGCCTCTGGGCTGTGCTCACCGTGCAGGCCTATGCCCGGGGCATGATCGCCTGCAGGCTGCACCAACGCCTCAGGGCTGAGGTGAGGGAGCAAGTCCATAGCACCCACAGCTCTGACCCCTGGGCGAGGAGTGTCCATGCATCACCCTCAGGTGTTGGCCAGGAAGTGGGACCTATAGGGGGGACCTGCAGTTATGCCTGCTCTGAGGAGTGCACATACCTGGGACCAGACCCTCATTTCCATCCTCTCAGCCAAGGGCAGGGCTGGGACCTCAGTCACTCTTGGGAATCTCTGGGAGACCGACGCAGATCTGGCCGGGCTTTAGGATCAGTGGTGCCTCCAGCCCGCTGGGTGACCTAGAGAATTTCTTGATTACCTCACTTGTCCTATCAAAGTCATGCCCAGTTCCAGAACTCAGAGTTGGGTGGGTGGAGCTGGTGGGAATCCCTGCAACAACAGCTACACACATTTCCATGCCCTCTGGATGCCCCCTTCCCTCAGTATCTGTGGCGCCTCGAGGCTGAGAAAATGCGGCTGGCGGAGGAAGAGAAGCTTCGGAAGGAGATGAGCGCCAAGAAGGCCAAGGAGGAGGCCGAGCGCAAGCATCAGGTGAGCTGAGAGCCTCCAGGCACCTTAGGTGTCCACTTGCTGGCTTGTCCCCTCCCCGAGGCTGGCTTCTCATCTGTCACCCGGTGCTGCAGCCTTCCTTCCATCCTTCAGAATGGCCACACTAGACCCACTCAGCCAGCATTGCCTGAGCTCTCGCTGGGCACCTGGTCCTGTGCCATGCAAAAGGATGAAGGGCTGTGGTGGCTCCAGAGGAAGAGGCCCAGGCCCTCAGCAGCCCCTTTCTAGTTGTTGAGATAACACCCTGGTAAAAGCACAAGCCAGCTGACGGCACGAGGGTGCTACACTGCCCAATAGAGAGCCACCAGCCACAGTGGCAACTGAACACTTGCAGTGTGGCCTGTCCGAATGACACAGTGCTTTAAGTGTGAAATACTAGATTTTGAAGATTTGGTGGGGGAAAAATGAATATAAAATATCTCAGTATTATTTTTATAATATGGATTACATGCTAAGTTAATATTTGGGAAATATTGAGTTAAATATACTGCTAAGACTAATCCCACCTATTCCTTTTTGCTTTTTAAAACGTGGCTACTATATGGGTGGCTCACATTGTATTCCTATTGGGCAACACTGGTCTAGAGCCTCAAGCCAATGGCCGTGGGATGTCTGGGTTGGTGTGGTCCCCATGGAGCAGGCTCCTGGAGGAGGTGGCTCCCTGAGAGCCCTGAAGGACGGGCAGGATTGTTATTTGGCTTGTTGAGAGGCCTCTGAGTGGTCCAGAGGTGGGGAAGTCAGAGGCTCCATTCTTCCCAGCGGTCAGGAGGTGGGGACTGAGGCCCTGGCTGCTGCAGGGGCTCCCCAGGGAGAGCTTGTTCCCTGAGGCTGTGGCACCGGGGGCTGACCCCGTGTCTTCTGTGTCACCCCAATTGCCCAGGAGCGCCTGGCCCAGCTGGCTCGTGAGGACGCTGAGCGGGAGCTGAAGGAGAAGGAGGCCGCTCGGCGGAAGAAGGAGCTCCTGGAGCAGATGGAAAGGGCCCGCCATGAGCCTGTCAATCACTCAGACATGGTGGACAAGATGTTTGGCTTCCTGGGGACTTCAGGTGGCCTGCCAGGCCAGGAGGGCCAGGCACCTAGTGGCTTTGAGGTACCAGGCTAGGGACAGGGGCTCCAGAGGCCCACACACACCGCTTGTGTTGATCCTCCCTCCTTCTGTGCCCTTGGCCTTAAAGCCCACCCAGTCCCTCTGAACAGTGGGGAGCAGAGATGAACTGGGTCCGGGCTGCAGGTCCCAGGTCCTGTCCCTCTCCAACGCCCTTCTCAAGTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTCGTACCCTGTTGCTCAGGCTGGAGTGCAGTAGCGTGATCACAGCTCACTGCAGCCTTGAACTTCTGGGCTCAGGCGATCCTCCCACCTGAGCTTCCTGAGTAGCTGGGACTCCAGGGCATACCTCTTGTCTCCTTCAGGACCTGGAGCGAGGGCGGAGG
|
Task1_train_16334
|
An alteration has been detected in MYO7A (myosin VIIA) on Chromosome 11. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Autosomal recessive nonsyndromic hearing loss 2
|
CCTACATATGCACATGCACACGTAGATACATGAGACTCACATGTGGACCCACTGTTCATGTCAGATGCTGATGAAATTTTGCAAAGAGGAAATTTGAGATTTTATAAATTATTAATACAAAATGTGTCTCATATTCTATCTAAGGGATATGTGTACACGTGACAATTCACAAATGTGCAGGACTGACTCCAAAGTGTGATTAAAGCTCTGCAAAAATTCCACAATGCACCCCTTTGCAGTTCATATGGTCACTCTCTCCCTTCTTCCACTCGTCCACCCACCTACCTATCCATCCGTCCGTTCACCCACCCACCTACCCATCCATCCATCCATCCATCTGCCCACCTATTCACCCATCCATCCATCCATCCATCCACCCGCCCACACACCCACCTAGTCACTCATCCATCCACCTATCCACCCACACATTCATCCATCAATTCACCCACCAACCCATCCACCATCCATCCATCCACCCACCCACCCATCCATTCACTCATCAGTCCACCCACCCATCCACCTACCCATTCATTCCTCCATTCATCCATTCACCCACCCACTCCCACAGTTGCTCATTTGCTTATGTGTGTCTCCAAGCATTGACTTATTGGCTCACTTGCATACTTGCACACCCATCCTTCGCTCTTCCTTTATTTATTTCTACATTCAGCAGACCCCTGCTGTCTGTGCATGGTCTCTGTCCTCTATCAGGCTGAAGATGACTGTTCTCCTATAGAAGCAGCCTGCTGTGTGCAGGGGGAACAGCACTGGGCTCACTTAGGGTCAGTCAGAAGACATGGGCTCTAGTCCCAACCTATCAAGTCTCAGTTGCCTCATGTATAAACTGAGGAAGTTAGACTGTTCAAAGCTTTTGATCTTTATATTATTTTAATTACTTATTTTTTCATACATTTATTCATTCAACAAATACCTTTTGAATGTCTACCTTCATGGGCTTATGTGACAGGCCTGTGGGGCAGGCAGGGCAGGCATTATTCTACACATTGTACGGATGAGGAAGCTGAGGCACAGAAGTTATGTGCCTTGCCCAAGGTCATATAGCTAGGAAGTCACAGAGCTGGGACTCAGCGTGCCCTCCTGATCCCAAACCCACCTGTACCCTGGCTGCCTCTGGACACTGCTCACCCGCGCCACTACTGCTGTTTCAGGTCTAACTTTCTGAAGCTGAAGAACGCTGCCACACTGATCCAGAGGCACTGGCGGGGTCACAACTGTAGGAAGAACTACGGGCTGGTGAGCCTCCCCATGGGCTGCTCTTGCCCAAACAGGCCTTTGAACCCAGCCTTGCTGCCATGGCAGTGGGACTGGCCTGCACCCAGGCAGCACAGCCTGGCCTCGTTGGCCTCCTGCCACTGCCCTGGCCAGCCACTACCATTCCTCCAGACCGAAGTCTGGATCTGGCTCTTGTGGCTTCTTCCAACTGGCCAGCAATGTTTGTTGCTCTCCTTCTGGAGTGTTTTTGGGGGTTGGGAGCACTCTGGGATTATTAGAGATCTCAGACAGGGTGAGAGTGGCTGGGTCACATGGACCTCTGTGCAGCAGCTGGGCTTAGGACTTGTTGGGGCTGGATGGGAAGCAGACTGGTTGGTTGCAGCTCCTGATCTAGGATTCTCTTGGGGGCCCCAACTCAGGGAGAGTCAAGGTCACCTAAAAATATGTTGCCTGAGAGGAAACAGAACTTTCTAACGATGGGGGGGCACTAATCTGAGAGGAGACTGGGCCACGCCTTCTGGGGGTGCCTGTCTGAGAGTGGAGGCCGGTGCCATGGAAGCTCCTGCAGGCAGGGTCAGTCTGGAATGGGACAGCAGGCTCTGAGCATGGGGTGGCTGTCCTTGCAGATGCGTCTGGGCTTCCTGCGGCTGCAGGCCCTGCACCGCTCCCGGAAGCTGCACCAGCAGTACCGCCTGGCCCGCCAGCGCATCATCCAGTTCCAGGCCCGCTGCCGCGCCTATCTGGTGCGCAAGGCCTTCCGCCACCGCCTCTGGGCTGTGCTCACCGTGCAGGCCTATGCCCGGGGCATGATCGCCCGCAGGCTGCACCAACGCCTCAGGGCTGAGGTGAGGGAGCAAGTCCATAGCACCCACAGCTCTGACCCCTGGGCGAGGAGTGTCCATGCATCACCCTCAGGTGTTGGCCAGGAAGTGGGACCTATAGGGGGGACCTGCAGTTATGCCTGCTCTGAGGAGTGCACATACCTGGGACCAGACCCTCATTTCCATCCTCTCAGCCAAGGGCAGGGCTGGGACCTCAGTCACTCTTGGGAATCTCTGGGAGACCGACGCAGATCTGGCCGGGCTTTAGGATCAGTGGTGCCTCCAGCCCGCTGGGTGACCTAGAGAATTTCTTGATTACCTCACTTGTCCTATCAAAGTCATGCCCAGTTCCAGAACTCAGAGTTGGGTGGGTGGAGCTGGTGGGAATCCCTGCAACAACAGCTACACACATTTCCATGCCCTCTGGATGCCCCCTTCCCTCAGTATCTGTGGCGCCTCGAGGCTGAGAAAATGCGGCTGGCGGAGGAAGAGAAGCTTCGGAAGGAGATGAGCGCCAAGAAGGCCAAGGAGGAGGCCGAGCGCAAGCATCAGGTGAGCTGAGAGCCTCCAGGCACCTTAGGTGTCCACTTGCTGGCTTGTCCCCTCCCCGAGGCTGGCTTCTCATCTGTCACCCGGTGCTGCAGCCTTCCTTCCATCCTTCAGAATGGCCACACTAGACCCACTCAGCCAGCATTGCCTGAGCTCTCGCTGGGCACCTGGTCCTGTGCCATGCAAAAGGATGAAGGGCTGTGGTGGCTCCAGAGGAAGAGGCCCAGGCCCTCAGCAGCCCCTTTCTAGTTGTTGAGATAACACCCTGGTAAAAGCACAAGCCAGCTGACGGCACGAGGGTGCTACACTGCCCAATAGAGAGCCACCAGCCACAGTGGCAACTGAACACTTGCAGTGTGGCCTGTCCGAATGACACAGTGCTTTAAGTGTGAAATACTAGATTTTGAAGATTTGGTGGGGGAAAAATGAATATAAAATATCTCAGTATTATTTTTATAATATGGATTACATGCTAAGTTAATATTTGGGAAATATTGAGTTAAATATACTGCTAAGACTAATCCCACCTATTCCTTTTTGCTTTTTAAAACGTGGCTACTATATGGGTGGCTCACATTGTATTCCTATTGGGCAACACTGGTCTAGAGCCTCAAGCCAATGGCCGTGGGATGTCTGGGTTGGTGTGGTCCCCATGGAGCAGGCTCCTGGAGGAGGTGGCTCCCTGAGAGCCCTGAAGGACGGGCAGGATTGTTATTTGGCTTGTTGAGAGGCCTCTGAGTGGTCCAGAGGTGGGGAAGTCAGAGGCTCCATTCTTCCCAGCGGTCAGGAGGTGGGGACTGAGGCCCTGGCTGCTGCAGGGGCTCCCCAGGGAGAGCTTGTTCCCTGAGGCTGTGGCACCGGGGGCTGACCCCGTGTCTTCTGTGTCACCCCAATTGCCCAGGAGCGCCTGGCCCAGCTGGCTCGTGAGGACGCTGAGCGGGAGCTGAAGGAGAAGGAGGCCGCTCGGCGGAAGAAGGAGCTCCTGGAGCAGATGGAAAGGGCCCGCCATGAGCCTGTCAATCACTCAGACATGGTGGACAAGATGTTTGGCTTCCTGGGGACTTCAGGTGGCCTGCCAGGCCAGGAGGGCCAGGCACCTAGTGGCTTTGAGGTACCAGGCTAGGGACAGGGGCTCCAGAGGCCCACACACACCGCTTGTGTTGATCCTCCCTCCTTCTGTGCCCTTGGCCTTAAAGCCCACCCAGTCCCTCTGAACAGTGGGGAGCAGAGATGAACTGGGTCCGGGCTGCAGGTCCCAGGTCCTGTCCCTCTCCAACGCCCTTCTCAAGTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTCGTACCCTGTTGCTCAGGCTGGAGTGCAGTAGCGTGATCACAGCTCACTGCAGCCTTGAACTTCTGGGCTCAGGCGATCCTCCCACCTGAGCTTCCTGAGTAGCTGGGACTCCAGGGCATACCTCTTGTCTCCTTCAGGACCTGGAGCGAGGGCGGAGG
|
CCTACATATGCACATGCACACGTAGATACATGAGACTCACATGTGGACCCACTGTTCATGTCAGATGCTGATGAAATTTTGCAAAGAGGAAATTTGAGATTTTATAAATTATTAATACAAAATGTGTCTCATATTCTATCTAAGGGATATGTGTACACGTGACAATTCACAAATGTGCAGGACTGACTCCAAAGTGTGATTAAAGCTCTGCAAAAATTCCACAATGCACCCCTTTGCAGTTCATATGGTCACTCTCTCCCTTCTTCCACTCGTCCACCCACCTACCTATCCATCCGTCCGTTCACCCACCCACCTACCCATCCATCCATCCATCCATCTGCCCACCTATTCACCCATCCATCCATCCATCCATCCACCCGCCCACACACCCACCTAGTCACTCATCCATCCACCTATCCACCCACACATTCATCCATCAATTCACCCACCAACCCATCCACCATCCATCCATCCACCCACCCACCCATCCATTCACTCATCAGTCCACCCACCCATCCACCTACCCATTCATTCCTCCATTCATCCATTCACCCACCCACTCCCACAGTTGCTCATTTGCTTATGTGTGTCTCCAAGCATTGACTTATTGGCTCACTTGCATACTTGCACACCCATCCTTCGCTCTTCCTTTATTTATTTCTACATTCAGCAGACCCCTGCTGTCTGTGCATGGTCTCTGTCCTCTATCAGGCTGAAGATGACTGTTCTCCTATAGAAGCAGCCTGCTGTGTGCAGGGGGAACAGCACTGGGCTCACTTAGGGTCAGTCAGAAGACATGGGCTCTAGTCCCAACCTATCAAGTCTCAGTTGCCTCATGTATAAACTGAGGAAGTTAGACTGTTCAAAGCTTTTGATCTTTATATTATTTTAATTACTTATTTTTTCATACATTTATTCATTCAACAAATACCTTTTGAATGTCTACCTTCATGGGCTTATGTGACAGGCCTGTGGGGCAGGCAGGGCAGGCATTATTCTACACATTGTACGGATGAGGAAGCTGAGGCACAGAAGTTATGTGCCTTGCCCAAGGTCATATAGCTAGGAAGTCACAGAGCTGGGACTCAGCGTGCCCTCCTGATCCCAAACCCACCTGTACCCTGGCTGCCTCTGGACACTGCTCACCCGCGCCACTACTGCTGTTTCAGGTCTAACTTTCTGAAGCTGAAGAACGCTGCCACACTGATCCAGAGGCACTGGCGGGGTCACAACTGTAGGAAGAACTACGGGCTGGTGAGCCTCCCCATGGGCTGCTCTTGCCCAAACAGGCCTTTGAACCCAGCCTTGCTGCCATGGCAGTGGGACTGGCCTGCACCCAGGCAGCACAGCCTGGCCTCGTTGGCCTCCTGCCACTGCCCTGGCCAGCCACTACCATTCCTCCAGACCGAAGTCTGGATCTGGCTCTTGTGGCTTCTTCCAACTGGCCAGCAATGTTTGTTGCTCTCCTTCTGGAGTGTTTTTGGGGGTTGGGAGCACTCTGGGATTATTAGAGATCTCAGACAGGGTGAGAGTGGCTGGGTCACATGGACCTCTGTGCAGCAGCTGGGCTTAGGACTTGTTGGGGCTGGATGGGAAGCAGACTGGTTGGTTGCAGCTCCTGATCTAGGATTCTCTTGGGGGCCCCAACTCAGGGAGAGTCAAGGTCACCTAAAAATATGTTGCCTGAGAGGAAACAGAACTTTCTAACGATGGGGGGGCACTAATCTGAGAGGAGACTGGGCCACGCCTTCTGGGGGTGCCTGTCTGAGAGTGGAGGCCGGTGCCATGGAAGCTCCTGCAGGCAGGGTCAGTCTGGAATGGGACAGCAGGCTCTGAGCATGGGGTGGCTGTCCTTGCAGATGCGTCTGGGCTTCCTGCGGCTGCAGGCCCTGCACCGCTCCCGGAAGCTGCACCAGCAGTACCGCCTGGCCCGCCAGCGCATCATCCAGTTCCAGGCCCGCTGCCGCGCCTATCTGGTGCGCAAGGCCTTCCGCCACCGCCTCTGGGCTGTGCTCACCGTGCAGGCCTATGCCCGGGGCATGATCGCCTGCAGGCTGCACCAACGCCTCAGGGCTGAGGTGAGGGAGCAAGTCCATAGCACCCACAGCTCTGACCCCTGGGCGAGGAGTGTCCATGCATCACCCTCAGGTGTTGGCCAGGAAGTGGGACCTATAGGGGGGACCTGCAGTTATGCCTGCTCTGAGGAGTGCACATACCTGGGACCAGACCCTCATTTCCATCCTCTCAGCCAAGGGCAGGGCTGGGACCTCAGTCACTCTTGGGAATCTCTGGGAGACCGACGCAGATCTGGCCGGGCTTTAGGATCAGTGGTGCCTCCAGCCCGCTGGGTGACCTAGAGAATTTCTTGATTACCTCACTTGTCCTATCAAAGTCATGCCCAGTTCCAGAACTCAGAGTTGGGTGGGTGGAGCTGGTGGGAATCCCTGCAACAACAGCTACACACATTTCCATGCCCTCTGGATGCCCCCTTCCCTCAGTATCTGTGGCGCCTCGAGGCTGAGAAAATGCGGCTGGCGGAGGAAGAGAAGCTTCGGAAGGAGATGAGCGCCAAGAAGGCCAAGGAGGAGGCCGAGCGCAAGCATCAGGTGAGCTGAGAGCCTCCAGGCACCTTAGGTGTCCACTTGCTGGCTTGTCCCCTCCCCGAGGCTGGCTTCTCATCTGTCACCCGGTGCTGCAGCCTTCCTTCCATCCTTCAGAATGGCCACACTAGACCCACTCAGCCAGCATTGCCTGAGCTCTCGCTGGGCACCTGGTCCTGTGCCATGCAAAAGGATGAAGGGCTGTGGTGGCTCCAGAGGAAGAGGCCCAGGCCCTCAGCAGCCCCTTTCTAGTTGTTGAGATAACACCCTGGTAAAAGCACAAGCCAGCTGACGGCACGAGGGTGCTACACTGCCCAATAGAGAGCCACCAGCCACAGTGGCAACTGAACACTTGCAGTGTGGCCTGTCCGAATGACACAGTGCTTTAAGTGTGAAATACTAGATTTTGAAGATTTGGTGGGGGAAAAATGAATATAAAATATCTCAGTATTATTTTTATAATATGGATTACATGCTAAGTTAATATTTGGGAAATATTGAGTTAAATATACTGCTAAGACTAATCCCACCTATTCCTTTTTGCTTTTTAAAACGTGGCTACTATATGGGTGGCTCACATTGTATTCCTATTGGGCAACACTGGTCTAGAGCCTCAAGCCAATGGCCGTGGGATGTCTGGGTTGGTGTGGTCCCCATGGAGCAGGCTCCTGGAGGAGGTGGCTCCCTGAGAGCCCTGAAGGACGGGCAGGATTGTTATTTGGCTTGTTGAGAGGCCTCTGAGTGGTCCAGAGGTGGGGAAGTCAGAGGCTCCATTCTTCCCAGCGGTCAGGAGGTGGGGACTGAGGCCCTGGCTGCTGCAGGGGCTCCCCAGGGAGAGCTTGTTCCCTGAGGCTGTGGCACCGGGGGCTGACCCCGTGTCTTCTGTGTCACCCCAATTGCCCAGGAGCGCCTGGCCCAGCTGGCTCGTGAGGACGCTGAGCGGGAGCTGAAGGAGAAGGAGGCCGCTCGGCGGAAGAAGGAGCTCCTGGAGCAGATGGAAAGGGCCCGCCATGAGCCTGTCAATCACTCAGACATGGTGGACAAGATGTTTGGCTTCCTGGGGACTTCAGGTGGCCTGCCAGGCCAGGAGGGCCAGGCACCTAGTGGCTTTGAGGTACCAGGCTAGGGACAGGGGCTCCAGAGGCCCACACACACCGCTTGTGTTGATCCTCCCTCCTTCTGTGCCCTTGGCCTTAAAGCCCACCCAGTCCCTCTGAACAGTGGGGAGCAGAGATGAACTGGGTCCGGGCTGCAGGTCCCAGGTCCTGTCCCTCTCCAACGCCCTTCTCAAGTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTCGTACCCTGTTGCTCAGGCTGGAGTGCAGTAGCGTGATCACAGCTCACTGCAGCCTTGAACTTCTGGGCTCAGGCGATCCTCCCACCTGAGCTTCCTGAGTAGCTGGGACTCCAGGGCATACCTCTTGTCTCCTTCAGGACCTGGAGCGAGGGCGGAGG
|
Task1_train_16335
|
Given this context: Chromosome 11, gene MYO7A (myosin VIIA) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
|
Pathogenic; Usher syndrome type 1
|
CCTACATATGCACATGCACACGTAGATACATGAGACTCACATGTGGACCCACTGTTCATGTCAGATGCTGATGAAATTTTGCAAAGAGGAAATTTGAGATTTTATAAATTATTAATACAAAATGTGTCTCATATTCTATCTAAGGGATATGTGTACACGTGACAATTCACAAATGTGCAGGACTGACTCCAAAGTGTGATTAAAGCTCTGCAAAAATTCCACAATGCACCCCTTTGCAGTTCATATGGTCACTCTCTCCCTTCTTCCACTCGTCCACCCACCTACCTATCCATCCGTCCGTTCACCCACCCACCTACCCATCCATCCATCCATCCATCTGCCCACCTATTCACCCATCCATCCATCCATCCATCCACCCGCCCACACACCCACCTAGTCACTCATCCATCCACCTATCCACCCACACATTCATCCATCAATTCACCCACCAACCCATCCACCATCCATCCATCCACCCACCCACCCATCCATTCACTCATCAGTCCACCCACCCATCCACCTACCCATTCATTCCTCCATTCATCCATTCACCCACCCACTCCCACAGTTGCTCATTTGCTTATGTGTGTCTCCAAGCATTGACTTATTGGCTCACTTGCATACTTGCACACCCATCCTTCGCTCTTCCTTTATTTATTTCTACATTCAGCAGACCCCTGCTGTCTGTGCATGGTCTCTGTCCTCTATCAGGCTGAAGATGACTGTTCTCCTATAGAAGCAGCCTGCTGTGTGCAGGGGGAACAGCACTGGGCTCACTTAGGGTCAGTCAGAAGACATGGGCTCTAGTCCCAACCTATCAAGTCTCAGTTGCCTCATGTATAAACTGAGGAAGTTAGACTGTTCAAAGCTTTTGATCTTTATATTATTTTAATTACTTATTTTTTCATACATTTATTCATTCAACAAATACCTTTTGAATGTCTACCTTCATGGGCTTATGTGACAGGCCTGTGGGGCAGGCAGGGCAGGCATTATTCTACACATTGTACGGATGAGGAAGCTGAGGCACAGAAGTTATGTGCCTTGCCCAAGGTCATATAGCTAGGAAGTCACAGAGCTGGGACTCAGCGTGCCCTCCTGATCCCAAACCCACCTGTACCCTGGCTGCCTCTGGACACTGCTCACCCGCGCCACTACTGCTGTTTCAGGTCTAACTTTCTGAAGCTGAAGAACGCTGCCACACTGATCCAGAGGCACTGGCGGGGTCACAACTGTAGGAAGAACTACGGGCTGGTGAGCCTCCCCATGGGCTGCTCTTGCCCAAACAGGCCTTTGAACCCAGCCTTGCTGCCATGGCAGTGGGACTGGCCTGCACCCAGGCAGCACAGCCTGGCCTCGTTGGCCTCCTGCCACTGCCCTGGCCAGCCACTACCATTCCTCCAGACCGAAGTCTGGATCTGGCTCTTGTGGCTTCTTCCAACTGGCCAGCAATGTTTGTTGCTCTCCTTCTGGAGTGTTTTTGGGGGTTGGGAGCACTCTGGGATTATTAGAGATCTCAGACAGGGTGAGAGTGGCTGGGTCACATGGACCTCTGTGCAGCAGCTGGGCTTAGGACTTGTTGGGGCTGGATGGGAAGCAGACTGGTTGGTTGCAGCTCCTGATCTAGGATTCTCTTGGGGGCCCCAACTCAGGGAGAGTCAAGGTCACCTAAAAATATGTTGCCTGAGAGGAAACAGAACTTTCTAACGATGGGGGGGCACTAATCTGAGAGGAGACTGGGCCACGCCTTCTGGGGGTGCCTGTCTGAGAGTGGAGGCCGGTGCCATGGAAGCTCCTGCAGGCAGGGTCAGTCTGGAATGGGACAGCAGGCTCTGAGCATGGGGTGGCTGTCCTTGCAGATGCGTCTGGGCTTCCTGCGGCTGCAGGCCCTGCACCGCTCCCGGAAGCTGCACCAGCAGTACCGCCTGGCCCGCCAGCGCATCATCCAGTTCCAGGCCCGCTGCCGCGCCTATCTGGTGCGCAAGGCCTTCCGCCACCGCCTCTGGGCTGTGCTCACCGTGCAGGCCTATGCCCGGGGCATGATCGCCCGCAGGCTGCACCAACGCCTCAGGGCTGAGGTGAGGGAGCAAGTCCATAGCACCCACAGCTCTGACCCCTGGGCGAGGAGTGTCCATGCATCACCCTCAGGTGTTGGCCAGGAAGTGGGACCTATAGGGGGGACCTGCAGTTATGCCTGCTCTGAGGAGTGCACATACCTGGGACCAGACCCTCATTTCCATCCTCTCAGCCAAGGGCAGGGCTGGGACCTCAGTCACTCTTGGGAATCTCTGGGAGACCGACGCAGATCTGGCCGGGCTTTAGGATCAGTGGTGCCTCCAGCCCGCTGGGTGACCTAGAGAATTTCTTGATTACCTCACTTGTCCTATCAAAGTCATGCCCAGTTCCAGAACTCAGAGTTGGGTGGGTGGAGCTGGTGGGAATCCCTGCAACAACAGCTACACACATTTCCATGCCCTCTGGATGCCCCCTTCCCTCAGTATCTGTGGCGCCTCGAGGCTGAGAAAATGCGGCTGGCGGAGGAAGAGAAGCTTCGGAAGGAGATGAGCGCCAAGAAGGCCAAGGAGGAGGCCGAGCGCAAGCATCAGGTGAGCTGAGAGCCTCCAGGCACCTTAGGTGTCCACTTGCTGGCTTGTCCCCTCCCCGAGGCTGGCTTCTCATCTGTCACCCGGTGCTGCAGCCTTCCTTCCATCCTTCAGAATGGCCACACTAGACCCACTCAGCCAGCATTGCCTGAGCTCTCGCTGGGCACCTGGTCCTGTGCCATGCAAAAGGATGAAGGGCTGTGGTGGCTCCAGAGGAAGAGGCCCAGGCCCTCAGCAGCCCCTTTCTAGTTGTTGAGATAACACCCTGGTAAAAGCACAAGCCAGCTGACGGCACGAGGGTGCTACACTGCCCAATAGAGAGCCACCAGCCACAGTGGCAACTGAACACTTGCAGTGTGGCCTGTCCGAATGACACAGTGCTTTAAGTGTGAAATACTAGATTTTGAAGATTTGGTGGGGGAAAAATGAATATAAAATATCTCAGTATTATTTTTATAATATGGATTACATGCTAAGTTAATATTTGGGAAATATTGAGTTAAATATACTGCTAAGACTAATCCCACCTATTCCTTTTTGCTTTTTAAAACGTGGCTACTATATGGGTGGCTCACATTGTATTCCTATTGGGCAACACTGGTCTAGAGCCTCAAGCCAATGGCCGTGGGATGTCTGGGTTGGTGTGGTCCCCATGGAGCAGGCTCCTGGAGGAGGTGGCTCCCTGAGAGCCCTGAAGGACGGGCAGGATTGTTATTTGGCTTGTTGAGAGGCCTCTGAGTGGTCCAGAGGTGGGGAAGTCAGAGGCTCCATTCTTCCCAGCGGTCAGGAGGTGGGGACTGAGGCCCTGGCTGCTGCAGGGGCTCCCCAGGGAGAGCTTGTTCCCTGAGGCTGTGGCACCGGGGGCTGACCCCGTGTCTTCTGTGTCACCCCAATTGCCCAGGAGCGCCTGGCCCAGCTGGCTCGTGAGGACGCTGAGCGGGAGCTGAAGGAGAAGGAGGCCGCTCGGCGGAAGAAGGAGCTCCTGGAGCAGATGGAAAGGGCCCGCCATGAGCCTGTCAATCACTCAGACATGGTGGACAAGATGTTTGGCTTCCTGGGGACTTCAGGTGGCCTGCCAGGCCAGGAGGGCCAGGCACCTAGTGGCTTTGAGGTACCAGGCTAGGGACAGGGGCTCCAGAGGCCCACACACACCGCTTGTGTTGATCCTCCCTCCTTCTGTGCCCTTGGCCTTAAAGCCCACCCAGTCCCTCTGAACAGTGGGGAGCAGAGATGAACTGGGTCCGGGCTGCAGGTCCCAGGTCCTGTCCCTCTCCAACGCCCTTCTCAAGTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTCGTACCCTGTTGCTCAGGCTGGAGTGCAGTAGCGTGATCACAGCTCACTGCAGCCTTGAACTTCTGGGCTCAGGCGATCCTCCCACCTGAGCTTCCTGAGTAGCTGGGACTCCAGGGCATACCTCTTGTCTCCTTCAGGACCTGGAGCGAGGGCGGAGG
|
CCTACATATGCACATGCACACGTAGATACATGAGACTCACATGTGGACCCACTGTTCATGTCAGATGCTGATGAAATTTTGCAAAGAGGAAATTTGAGATTTTATAAATTATTAATACAAAATGTGTCTCATATTCTATCTAAGGGATATGTGTACACGTGACAATTCACAAATGTGCAGGACTGACTCCAAAGTGTGATTAAAGCTCTGCAAAAATTCCACAATGCACCCCTTTGCAGTTCATATGGTCACTCTCTCCCTTCTTCCACTCGTCCACCCACCTACCTATCCATCCGTCCGTTCACCCACCCACCTACCCATCCATCCATCCATCCATCTGCCCACCTATTCACCCATCCATCCATCCATCCATCCACCCGCCCACACACCCACCTAGTCACTCATCCATCCACCTATCCACCCACACATTCATCCATCAATTCACCCACCAACCCATCCACCATCCATCCATCCACCCACCCACCCATCCATTCACTCATCAGTCCACCCACCCATCCACCTACCCATTCATTCCTCCATTCATCCATTCACCCACCCACTCCCACAGTTGCTCATTTGCTTATGTGTGTCTCCAAGCATTGACTTATTGGCTCACTTGCATACTTGCACACCCATCCTTCGCTCTTCCTTTATTTATTTCTACATTCAGCAGACCCCTGCTGTCTGTGCATGGTCTCTGTCCTCTATCAGGCTGAAGATGACTGTTCTCCTATAGAAGCAGCCTGCTGTGTGCAGGGGGAACAGCACTGGGCTCACTTAGGGTCAGTCAGAAGACATGGGCTCTAGTCCCAACCTATCAAGTCTCAGTTGCCTCATGTATAAACTGAGGAAGTTAGACTGTTCAAAGCTTTTGATCTTTATATTATTTTAATTACTTATTTTTTCATACATTTATTCATTCAACAAATACCTTTTGAATGTCTACCTTCATGGGCTTATGTGACAGGCCTGTGGGGCAGGCAGGGCAGGCATTATTCTACACATTGTACGGATGAGGAAGCTGAGGCACAGAAGTTATGTGCCTTGCCCAAGGTCATATAGCTAGGAAGTCACAGAGCTGGGACTCAGCGTGCCCTCCTGATCCCAAACCCACCTGTACCCTGGCTGCCTCTGGACACTGCTCACCCGCGCCACTACTGCTGTTTCAGGTCTAACTTTCTGAAGCTGAAGAACGCTGCCACACTGATCCAGAGGCACTGGCGGGGTCACAACTGTAGGAAGAACTACGGGCTGGTGAGCCTCCCCATGGGCTGCTCTTGCCCAAACAGGCCTTTGAACCCAGCCTTGCTGCCATGGCAGTGGGACTGGCCTGCACCCAGGCAGCACAGCCTGGCCTCGTTGGCCTCCTGCCACTGCCCTGGCCAGCCACTACCATTCCTCCAGACCGAAGTCTGGATCTGGCTCTTGTGGCTTCTTCCAACTGGCCAGCAATGTTTGTTGCTCTCCTTCTGGAGTGTTTTTGGGGGTTGGGAGCACTCTGGGATTATTAGAGATCTCAGACAGGGTGAGAGTGGCTGGGTCACATGGACCTCTGTGCAGCAGCTGGGCTTAGGACTTGTTGGGGCTGGATGGGAAGCAGACTGGTTGGTTGCAGCTCCTGATCTAGGATTCTCTTGGGGGCCCCAACTCAGGGAGAGTCAAGGTCACCTAAAAATATGTTGCCTGAGAGGAAACAGAACTTTCTAACGATGGGGGGGCACTAATCTGAGAGGAGACTGGGCCACGCCTTCTGGGGGTGCCTGTCTGAGAGTGGAGGCCGGTGCCATGGAAGCTCCTGCAGGCAGGGTCAGTCTGGAATGGGACAGCAGGCTCTGAGCATGGGGTGGCTGTCCTTGCAGATGCGTCTGGGCTTCCTGCGGCTGCAGGCCCTGCACCGCTCCCGGAAGCTGCACCAGCAGTACCGCCTGGCCCGCCAGCGCATCATCCAGTTCCAGGCCCGCTGCCGCGCCTATCTGGTGCGCAAGGCCTTCCGCCACCGCCTCTGGGCTGTGCTCACCGTGCAGGCCTATGCCCGGGGCATGATCGCCTGCAGGCTGCACCAACGCCTCAGGGCTGAGGTGAGGGAGCAAGTCCATAGCACCCACAGCTCTGACCCCTGGGCGAGGAGTGTCCATGCATCACCCTCAGGTGTTGGCCAGGAAGTGGGACCTATAGGGGGGACCTGCAGTTATGCCTGCTCTGAGGAGTGCACATACCTGGGACCAGACCCTCATTTCCATCCTCTCAGCCAAGGGCAGGGCTGGGACCTCAGTCACTCTTGGGAATCTCTGGGAGACCGACGCAGATCTGGCCGGGCTTTAGGATCAGTGGTGCCTCCAGCCCGCTGGGTGACCTAGAGAATTTCTTGATTACCTCACTTGTCCTATCAAAGTCATGCCCAGTTCCAGAACTCAGAGTTGGGTGGGTGGAGCTGGTGGGAATCCCTGCAACAACAGCTACACACATTTCCATGCCCTCTGGATGCCCCCTTCCCTCAGTATCTGTGGCGCCTCGAGGCTGAGAAAATGCGGCTGGCGGAGGAAGAGAAGCTTCGGAAGGAGATGAGCGCCAAGAAGGCCAAGGAGGAGGCCGAGCGCAAGCATCAGGTGAGCTGAGAGCCTCCAGGCACCTTAGGTGTCCACTTGCTGGCTTGTCCCCTCCCCGAGGCTGGCTTCTCATCTGTCACCCGGTGCTGCAGCCTTCCTTCCATCCTTCAGAATGGCCACACTAGACCCACTCAGCCAGCATTGCCTGAGCTCTCGCTGGGCACCTGGTCCTGTGCCATGCAAAAGGATGAAGGGCTGTGGTGGCTCCAGAGGAAGAGGCCCAGGCCCTCAGCAGCCCCTTTCTAGTTGTTGAGATAACACCCTGGTAAAAGCACAAGCCAGCTGACGGCACGAGGGTGCTACACTGCCCAATAGAGAGCCACCAGCCACAGTGGCAACTGAACACTTGCAGTGTGGCCTGTCCGAATGACACAGTGCTTTAAGTGTGAAATACTAGATTTTGAAGATTTGGTGGGGGAAAAATGAATATAAAATATCTCAGTATTATTTTTATAATATGGATTACATGCTAAGTTAATATTTGGGAAATATTGAGTTAAATATACTGCTAAGACTAATCCCACCTATTCCTTTTTGCTTTTTAAAACGTGGCTACTATATGGGTGGCTCACATTGTATTCCTATTGGGCAACACTGGTCTAGAGCCTCAAGCCAATGGCCGTGGGATGTCTGGGTTGGTGTGGTCCCCATGGAGCAGGCTCCTGGAGGAGGTGGCTCCCTGAGAGCCCTGAAGGACGGGCAGGATTGTTATTTGGCTTGTTGAGAGGCCTCTGAGTGGTCCAGAGGTGGGGAAGTCAGAGGCTCCATTCTTCCCAGCGGTCAGGAGGTGGGGACTGAGGCCCTGGCTGCTGCAGGGGCTCCCCAGGGAGAGCTTGTTCCCTGAGGCTGTGGCACCGGGGGCTGACCCCGTGTCTTCTGTGTCACCCCAATTGCCCAGGAGCGCCTGGCCCAGCTGGCTCGTGAGGACGCTGAGCGGGAGCTGAAGGAGAAGGAGGCCGCTCGGCGGAAGAAGGAGCTCCTGGAGCAGATGGAAAGGGCCCGCCATGAGCCTGTCAATCACTCAGACATGGTGGACAAGATGTTTGGCTTCCTGGGGACTTCAGGTGGCCTGCCAGGCCAGGAGGGCCAGGCACCTAGTGGCTTTGAGGTACCAGGCTAGGGACAGGGGCTCCAGAGGCCCACACACACCGCTTGTGTTGATCCTCCCTCCTTCTGTGCCCTTGGCCTTAAAGCCCACCCAGTCCCTCTGAACAGTGGGGAGCAGAGATGAACTGGGTCCGGGCTGCAGGTCCCAGGTCCTGTCCCTCTCCAACGCCCTTCTCAAGTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTCGTACCCTGTTGCTCAGGCTGGAGTGCAGTAGCGTGATCACAGCTCACTGCAGCCTTGAACTTCTGGGCTCAGGCGATCCTCCCACCTGAGCTTCCTGAGTAGCTGGGACTCCAGGGCATACCTCTTGTCTCCTTCAGGACCTGGAGCGAGGGCGGAGG
|
Task1_train_16336
|
Given this variant in gene MYO7A (myosin VIIA) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
|
Pathogenic; Autosomal dominant nonsyndromic hearing loss 11
|
CCTACATATGCACATGCACACGTAGATACATGAGACTCACATGTGGACCCACTGTTCATGTCAGATGCTGATGAAATTTTGCAAAGAGGAAATTTGAGATTTTATAAATTATTAATACAAAATGTGTCTCATATTCTATCTAAGGGATATGTGTACACGTGACAATTCACAAATGTGCAGGACTGACTCCAAAGTGTGATTAAAGCTCTGCAAAAATTCCACAATGCACCCCTTTGCAGTTCATATGGTCACTCTCTCCCTTCTTCCACTCGTCCACCCACCTACCTATCCATCCGTCCGTTCACCCACCCACCTACCCATCCATCCATCCATCCATCTGCCCACCTATTCACCCATCCATCCATCCATCCATCCACCCGCCCACACACCCACCTAGTCACTCATCCATCCACCTATCCACCCACACATTCATCCATCAATTCACCCACCAACCCATCCACCATCCATCCATCCACCCACCCACCCATCCATTCACTCATCAGTCCACCCACCCATCCACCTACCCATTCATTCCTCCATTCATCCATTCACCCACCCACTCCCACAGTTGCTCATTTGCTTATGTGTGTCTCCAAGCATTGACTTATTGGCTCACTTGCATACTTGCACACCCATCCTTCGCTCTTCCTTTATTTATTTCTACATTCAGCAGACCCCTGCTGTCTGTGCATGGTCTCTGTCCTCTATCAGGCTGAAGATGACTGTTCTCCTATAGAAGCAGCCTGCTGTGTGCAGGGGGAACAGCACTGGGCTCACTTAGGGTCAGTCAGAAGACATGGGCTCTAGTCCCAACCTATCAAGTCTCAGTTGCCTCATGTATAAACTGAGGAAGTTAGACTGTTCAAAGCTTTTGATCTTTATATTATTTTAATTACTTATTTTTTCATACATTTATTCATTCAACAAATACCTTTTGAATGTCTACCTTCATGGGCTTATGTGACAGGCCTGTGGGGCAGGCAGGGCAGGCATTATTCTACACATTGTACGGATGAGGAAGCTGAGGCACAGAAGTTATGTGCCTTGCCCAAGGTCATATAGCTAGGAAGTCACAGAGCTGGGACTCAGCGTGCCCTCCTGATCCCAAACCCACCTGTACCCTGGCTGCCTCTGGACACTGCTCACCCGCGCCACTACTGCTGTTTCAGGTCTAACTTTCTGAAGCTGAAGAACGCTGCCACACTGATCCAGAGGCACTGGCGGGGTCACAACTGTAGGAAGAACTACGGGCTGGTGAGCCTCCCCATGGGCTGCTCTTGCCCAAACAGGCCTTTGAACCCAGCCTTGCTGCCATGGCAGTGGGACTGGCCTGCACCCAGGCAGCACAGCCTGGCCTCGTTGGCCTCCTGCCACTGCCCTGGCCAGCCACTACCATTCCTCCAGACCGAAGTCTGGATCTGGCTCTTGTGGCTTCTTCCAACTGGCCAGCAATGTTTGTTGCTCTCCTTCTGGAGTGTTTTTGGGGGTTGGGAGCACTCTGGGATTATTAGAGATCTCAGACAGGGTGAGAGTGGCTGGGTCACATGGACCTCTGTGCAGCAGCTGGGCTTAGGACTTGTTGGGGCTGGATGGGAAGCAGACTGGTTGGTTGCAGCTCCTGATCTAGGATTCTCTTGGGGGCCCCAACTCAGGGAGAGTCAAGGTCACCTAAAAATATGTTGCCTGAGAGGAAACAGAACTTTCTAACGATGGGGGGGCACTAATCTGAGAGGAGACTGGGCCACGCCTTCTGGGGGTGCCTGTCTGAGAGTGGAGGCCGGTGCCATGGAAGCTCCTGCAGGCAGGGTCAGTCTGGAATGGGACAGCAGGCTCTGAGCATGGGGTGGCTGTCCTTGCAGATGCGTCTGGGCTTCCTGCGGCTGCAGGCCCTGCACCGCTCCCGGAAGCTGCACCAGCAGTACCGCCTGGCCCGCCAGCGCATCATCCAGTTCCAGGCCCGCTGCCGCGCCTATCTGGTGCGCAAGGCCTTCCGCCACCGCCTCTGGGCTGTGCTCACCGTGCAGGCCTATGCCCGGGGCATGATCGCCCGCAGGCTGCACCAACGCCTCAGGGCTGAGGTGAGGGAGCAAGTCCATAGCACCCACAGCTCTGACCCCTGGGCGAGGAGTGTCCATGCATCACCCTCAGGTGTTGGCCAGGAAGTGGGACCTATAGGGGGGACCTGCAGTTATGCCTGCTCTGAGGAGTGCACATACCTGGGACCAGACCCTCATTTCCATCCTCTCAGCCAAGGGCAGGGCTGGGACCTCAGTCACTCTTGGGAATCTCTGGGAGACCGACGCAGATCTGGCCGGGCTTTAGGATCAGTGGTGCCTCCAGCCCGCTGGGTGACCTAGAGAATTTCTTGATTACCTCACTTGTCCTATCAAAGTCATGCCCAGTTCCAGAACTCAGAGTTGGGTGGGTGGAGCTGGTGGGAATCCCTGCAACAACAGCTACACACATTTCCATGCCCTCTGGATGCCCCCTTCCCTCAGTATCTGTGGCGCCTCGAGGCTGAGAAAATGCGGCTGGCGGAGGAAGAGAAGCTTCGGAAGGAGATGAGCGCCAAGAAGGCCAAGGAGGAGGCCGAGCGCAAGCATCAGGTGAGCTGAGAGCCTCCAGGCACCTTAGGTGTCCACTTGCTGGCTTGTCCCCTCCCCGAGGCTGGCTTCTCATCTGTCACCCGGTGCTGCAGCCTTCCTTCCATCCTTCAGAATGGCCACACTAGACCCACTCAGCCAGCATTGCCTGAGCTCTCGCTGGGCACCTGGTCCTGTGCCATGCAAAAGGATGAAGGGCTGTGGTGGCTCCAGAGGAAGAGGCCCAGGCCCTCAGCAGCCCCTTTCTAGTTGTTGAGATAACACCCTGGTAAAAGCACAAGCCAGCTGACGGCACGAGGGTGCTACACTGCCCAATAGAGAGCCACCAGCCACAGTGGCAACTGAACACTTGCAGTGTGGCCTGTCCGAATGACACAGTGCTTTAAGTGTGAAATACTAGATTTTGAAGATTTGGTGGGGGAAAAATGAATATAAAATATCTCAGTATTATTTTTATAATATGGATTACATGCTAAGTTAATATTTGGGAAATATTGAGTTAAATATACTGCTAAGACTAATCCCACCTATTCCTTTTTGCTTTTTAAAACGTGGCTACTATATGGGTGGCTCACATTGTATTCCTATTGGGCAACACTGGTCTAGAGCCTCAAGCCAATGGCCGTGGGATGTCTGGGTTGGTGTGGTCCCCATGGAGCAGGCTCCTGGAGGAGGTGGCTCCCTGAGAGCCCTGAAGGACGGGCAGGATTGTTATTTGGCTTGTTGAGAGGCCTCTGAGTGGTCCAGAGGTGGGGAAGTCAGAGGCTCCATTCTTCCCAGCGGTCAGGAGGTGGGGACTGAGGCCCTGGCTGCTGCAGGGGCTCCCCAGGGAGAGCTTGTTCCCTGAGGCTGTGGCACCGGGGGCTGACCCCGTGTCTTCTGTGTCACCCCAATTGCCCAGGAGCGCCTGGCCCAGCTGGCTCGTGAGGACGCTGAGCGGGAGCTGAAGGAGAAGGAGGCCGCTCGGCGGAAGAAGGAGCTCCTGGAGCAGATGGAAAGGGCCCGCCATGAGCCTGTCAATCACTCAGACATGGTGGACAAGATGTTTGGCTTCCTGGGGACTTCAGGTGGCCTGCCAGGCCAGGAGGGCCAGGCACCTAGTGGCTTTGAGGTACCAGGCTAGGGACAGGGGCTCCAGAGGCCCACACACACCGCTTGTGTTGATCCTCCCTCCTTCTGTGCCCTTGGCCTTAAAGCCCACCCAGTCCCTCTGAACAGTGGGGAGCAGAGATGAACTGGGTCCGGGCTGCAGGTCCCAGGTCCTGTCCCTCTCCAACGCCCTTCTCAAGTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTCGTACCCTGTTGCTCAGGCTGGAGTGCAGTAGCGTGATCACAGCTCACTGCAGCCTTGAACTTCTGGGCTCAGGCGATCCTCCCACCTGAGCTTCCTGAGTAGCTGGGACTCCAGGGCATACCTCTTGTCTCCTTCAGGACCTGGAGCGAGGGCGGAGG
|
CCTACATATGCACATGCACACGTAGATACATGAGACTCACATGTGGACCCACTGTTCATGTCAGATGCTGATGAAATTTTGCAAAGAGGAAATTTGAGATTTTATAAATTATTAATACAAAATGTGTCTCATATTCTATCTAAGGGATATGTGTACACGTGACAATTCACAAATGTGCAGGACTGACTCCAAAGTGTGATTAAAGCTCTGCAAAAATTCCACAATGCACCCCTTTGCAGTTCATATGGTCACTCTCTCCCTTCTTCCACTCGTCCACCCACCTACCTATCCATCCGTCCGTTCACCCACCCACCTACCCATCCATCCATCCATCCATCTGCCCACCTATTCACCCATCCATCCATCCATCCATCCACCCGCCCACACACCCACCTAGTCACTCATCCATCCACCTATCCACCCACACATTCATCCATCAATTCACCCACCAACCCATCCACCATCCATCCATCCACCCACCCACCCATCCATTCACTCATCAGTCCACCCACCCATCCACCTACCCATTCATTCCTCCATTCATCCATTCACCCACCCACTCCCACAGTTGCTCATTTGCTTATGTGTGTCTCCAAGCATTGACTTATTGGCTCACTTGCATACTTGCACACCCATCCTTCGCTCTTCCTTTATTTATTTCTACATTCAGCAGACCCCTGCTGTCTGTGCATGGTCTCTGTCCTCTATCAGGCTGAAGATGACTGTTCTCCTATAGAAGCAGCCTGCTGTGTGCAGGGGGAACAGCACTGGGCTCACTTAGGGTCAGTCAGAAGACATGGGCTCTAGTCCCAACCTATCAAGTCTCAGTTGCCTCATGTATAAACTGAGGAAGTTAGACTGTTCAAAGCTTTTGATCTTTATATTATTTTAATTACTTATTTTTTCATACATTTATTCATTCAACAAATACCTTTTGAATGTCTACCTTCATGGGCTTATGTGACAGGCCTGTGGGGCAGGCAGGGCAGGCATTATTCTACACATTGTACGGATGAGGAAGCTGAGGCACAGAAGTTATGTGCCTTGCCCAAGGTCATATAGCTAGGAAGTCACAGAGCTGGGACTCAGCGTGCCCTCCTGATCCCAAACCCACCTGTACCCTGGCTGCCTCTGGACACTGCTCACCCGCGCCACTACTGCTGTTTCAGGTCTAACTTTCTGAAGCTGAAGAACGCTGCCACACTGATCCAGAGGCACTGGCGGGGTCACAACTGTAGGAAGAACTACGGGCTGGTGAGCCTCCCCATGGGCTGCTCTTGCCCAAACAGGCCTTTGAACCCAGCCTTGCTGCCATGGCAGTGGGACTGGCCTGCACCCAGGCAGCACAGCCTGGCCTCGTTGGCCTCCTGCCACTGCCCTGGCCAGCCACTACCATTCCTCCAGACCGAAGTCTGGATCTGGCTCTTGTGGCTTCTTCCAACTGGCCAGCAATGTTTGTTGCTCTCCTTCTGGAGTGTTTTTGGGGGTTGGGAGCACTCTGGGATTATTAGAGATCTCAGACAGGGTGAGAGTGGCTGGGTCACATGGACCTCTGTGCAGCAGCTGGGCTTAGGACTTGTTGGGGCTGGATGGGAAGCAGACTGGTTGGTTGCAGCTCCTGATCTAGGATTCTCTTGGGGGCCCCAACTCAGGGAGAGTCAAGGTCACCTAAAAATATGTTGCCTGAGAGGAAACAGAACTTTCTAACGATGGGGGGGCACTAATCTGAGAGGAGACTGGGCCACGCCTTCTGGGGGTGCCTGTCTGAGAGTGGAGGCCGGTGCCATGGAAGCTCCTGCAGGCAGGGTCAGTCTGGAATGGGACAGCAGGCTCTGAGCATGGGGTGGCTGTCCTTGCAGATGCGTCTGGGCTTCCTGCGGCTGCAGGCCCTGCACCGCTCCCGGAAGCTGCACCAGCAGTACCGCCTGGCCCGCCAGCGCATCATCCAGTTCCAGGCCCGCTGCCGCGCCTATCTGGTGCGCAAGGCCTTCCGCCACCGCCTCTGGGCTGTGCTCACCGTGCAGGCCTATGCCCGGGGCATGATCGCCTGCAGGCTGCACCAACGCCTCAGGGCTGAGGTGAGGGAGCAAGTCCATAGCACCCACAGCTCTGACCCCTGGGCGAGGAGTGTCCATGCATCACCCTCAGGTGTTGGCCAGGAAGTGGGACCTATAGGGGGGACCTGCAGTTATGCCTGCTCTGAGGAGTGCACATACCTGGGACCAGACCCTCATTTCCATCCTCTCAGCCAAGGGCAGGGCTGGGACCTCAGTCACTCTTGGGAATCTCTGGGAGACCGACGCAGATCTGGCCGGGCTTTAGGATCAGTGGTGCCTCCAGCCCGCTGGGTGACCTAGAGAATTTCTTGATTACCTCACTTGTCCTATCAAAGTCATGCCCAGTTCCAGAACTCAGAGTTGGGTGGGTGGAGCTGGTGGGAATCCCTGCAACAACAGCTACACACATTTCCATGCCCTCTGGATGCCCCCTTCCCTCAGTATCTGTGGCGCCTCGAGGCTGAGAAAATGCGGCTGGCGGAGGAAGAGAAGCTTCGGAAGGAGATGAGCGCCAAGAAGGCCAAGGAGGAGGCCGAGCGCAAGCATCAGGTGAGCTGAGAGCCTCCAGGCACCTTAGGTGTCCACTTGCTGGCTTGTCCCCTCCCCGAGGCTGGCTTCTCATCTGTCACCCGGTGCTGCAGCCTTCCTTCCATCCTTCAGAATGGCCACACTAGACCCACTCAGCCAGCATTGCCTGAGCTCTCGCTGGGCACCTGGTCCTGTGCCATGCAAAAGGATGAAGGGCTGTGGTGGCTCCAGAGGAAGAGGCCCAGGCCCTCAGCAGCCCCTTTCTAGTTGTTGAGATAACACCCTGGTAAAAGCACAAGCCAGCTGACGGCACGAGGGTGCTACACTGCCCAATAGAGAGCCACCAGCCACAGTGGCAACTGAACACTTGCAGTGTGGCCTGTCCGAATGACACAGTGCTTTAAGTGTGAAATACTAGATTTTGAAGATTTGGTGGGGGAAAAATGAATATAAAATATCTCAGTATTATTTTTATAATATGGATTACATGCTAAGTTAATATTTGGGAAATATTGAGTTAAATATACTGCTAAGACTAATCCCACCTATTCCTTTTTGCTTTTTAAAACGTGGCTACTATATGGGTGGCTCACATTGTATTCCTATTGGGCAACACTGGTCTAGAGCCTCAAGCCAATGGCCGTGGGATGTCTGGGTTGGTGTGGTCCCCATGGAGCAGGCTCCTGGAGGAGGTGGCTCCCTGAGAGCCCTGAAGGACGGGCAGGATTGTTATTTGGCTTGTTGAGAGGCCTCTGAGTGGTCCAGAGGTGGGGAAGTCAGAGGCTCCATTCTTCCCAGCGGTCAGGAGGTGGGGACTGAGGCCCTGGCTGCTGCAGGGGCTCCCCAGGGAGAGCTTGTTCCCTGAGGCTGTGGCACCGGGGGCTGACCCCGTGTCTTCTGTGTCACCCCAATTGCCCAGGAGCGCCTGGCCCAGCTGGCTCGTGAGGACGCTGAGCGGGAGCTGAAGGAGAAGGAGGCCGCTCGGCGGAAGAAGGAGCTCCTGGAGCAGATGGAAAGGGCCCGCCATGAGCCTGTCAATCACTCAGACATGGTGGACAAGATGTTTGGCTTCCTGGGGACTTCAGGTGGCCTGCCAGGCCAGGAGGGCCAGGCACCTAGTGGCTTTGAGGTACCAGGCTAGGGACAGGGGCTCCAGAGGCCCACACACACCGCTTGTGTTGATCCTCCCTCCTTCTGTGCCCTTGGCCTTAAAGCCCACCCAGTCCCTCTGAACAGTGGGGAGCAGAGATGAACTGGGTCCGGGCTGCAGGTCCCAGGTCCTGTCCCTCTCCAACGCCCTTCTCAAGTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTCGTACCCTGTTGCTCAGGCTGGAGTGCAGTAGCGTGATCACAGCTCACTGCAGCCTTGAACTTCTGGGCTCAGGCGATCCTCCCACCTGAGCTTCCTGAGTAGCTGGGACTCCAGGGCATACCTCTTGTCTCCTTCAGGACCTGGAGCGAGGGCGGAGG
|
Task1_train_16337
|
Gene MYO7A (myosin VIIA), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; Usher syndrome
|
AGCCTTGGGCTCCTCTGCAGAAAAAGGATCCTATAATTCATCTCTGCCTCACCGACCCCTGCCTGCCACCCTCCTTTGTCTACTTGTGGGAACAAATGTGTGCAACTTTTATAAACTGTAAAGTGCTGACCATAACTGAGGGGCCTCATGGCAGAGCAGACAGGGGCTTTGCAGTTGGAGCCAGCTCCCGTACTATGTTTTTCTGAGTCTCAGTTTTCCTGACTGCCAGTTGGCTAGTGGGGGTGCAAGGGTAGGGGTGAGCAGGTGGACGGTGGCAGTGTGGGGGACACCCTGTAAGCTTCACGTGGAAGCGAGACGGTTCCCCGCAAAGTCTTGCTGTCGGGGGTCTCGACATTGCTTTCTGCTCAGCCACTTGACCCTGATCCCTGCTGGTCCTGCAGGCCCAGCTCCCCGAGGGCCAGAAGAAGAGCAGTGTGAGGCACAAGCTGGTGCATTTGACTCTGAAAAAGAAGTCCAAGCTCACAGAGGAGGTGAGGGCAGACGCTGGGGGTCTGGCAGCCCAGGGGTGGCTGCCTTAGGTGGCCTAGGCTGGAGCACAGCTGAGCTGGGGGCCCACGGAAGCAGGAGCAGGAGTGGACACTGTCTGTCCTCAGGGGTCTTGGCTGGCCAGGGACAGGACAACATGAGTGGGTTGGTGGGCGATCAGGCAGACAGGAGTGTCTGAAGAGGGTGGGATCTCAGGCCGGGGGTGGGAAGGGCTTCCTAGCAGAGGGCACTGAGCAGGGGAGGCCGGTAGCGGCACAGCTGAGAGGGAATACACTTCTAGCCGGGCACAGACCCGAGGCACTTGGTCCAAGGACCTTTGAGGCATGGGAGCTTTCTGTGGAACAAGAGTGCTCATGGAGCATGAACAGGATTAATTTATTTGAATTCATTCTTCAGTCACTTTGCCTTTTCTGGGCACTGTCCCAGCCCTTGTGCTCTGGGGTTGTCCAGGCTGGTGTGTGTGTGGCAGGGGAGGATACACTGGAGAGGCAGACACAAACCAAGGCATTCACAGCCTTGGGGGCCAGGCCCCCATCCCCACATTTGCACATGCCAGTCCCTCTGCCTGAAACTCCTCCTTTCTCTGCCTGGGGTCACCTCCTCCAGGAAGCCTCCCCAGCTCCTCCACTGCAGAGTCAGGGGCTCCCACTTCACCTCTGCCCTTGTCCTGTCCCCACCTGAGGCACAAATCCAGCCTTGCAGGTGTGTGGCCTCAGATTTGAATCCCACCTCTGCCGCTTAGTATTCAAGGGACCCAGGGAAGAAAATGCCCACTCCGTGGGGTCCTGGGAAGAAGGCAGAAATGGCAGCCGAGGGTGTTCAGTGGTGCTCCCTGTCTGCACCACCCACTCCTGCCGCTCGCCTCTCACTCACCCTACATCCTCTGGGCAGAGCTCGGGGCTTGTGCTGTGGGCTGTGTGGGATGAGAGAGGAGAAACATCTCATAAGAACTGGTGTGAGGCTGGTCACATCGGGGCTAAGGGTGTTGGTGACAGAGTGGTGGTGACTGGTGGTTGGAACCTGGAGTATACTCCAGGTGCCACAGTTATGTTGGCGGGGGCACCCCAGAGAGATAGGGGTCCCGCTTGGAGTCAGAGGATCATGTCCCTGTCCTGGCTGAGAGGACCTCCCTGGGGTGGGGTGTGGGGTGCAGGGTATCGAGGAGGTGGCCAGAGGAGCTCTGTCCCCAGAAGTGGGTGGCACCGGGCCAGTGTGCCCCTGCTGTGTGGGCCAGTTATTGGCCCAGCATCTGCTGTGCACGTGGCAGGGGTAATGACAGTGATGGGGAGCCCAGTTCTTCTGCTCACTCCTTAGATTCTGTTTTCTGGGGAGCAGGCAGCCTCGGGTGCTGGTGCCCTGGCTGGCAGGGGAACACCCCTAACTTTACCTGCCCTGTCCTCTCCCTCTGGCCCAGGTGACCAAGAGGCTGCATGACGGGGAGTCCACAGTGCAGGGCAACAGCATGCTGGAGGACCGGCCCACCTCCAACCTGGAGAAGCTGCACTTCATCATCGGCAATGGCATCCTGCGGCCAGCACTCCGGTCAGTGCCGGGAGGCGGGGACACCAGGGCCTGAAAGTCTTTTGGTGGCTGAGTGGTGCCTCTGTCAACCTAGCAAGAGATTAAGCCAAGCAGGCCTGGGTTTGGCTTCGCTGCTAGCTAGTTGGTGGAGTTAGGACCTTGGTGGAGTTATTTCATCTTTCTAAGCCTCTGATTCCTTGTCTGTAAAGGGGGAATCCTAAAACAGGCATCCCTTGGAGATATTGCAGGTTCAGTTGAAGGCCACAGAAATAAATATCACAATAAAGAGAGCTGCAGAAATATTTTGGTTTCCCAGTGCATATAAAAGTCATATTTATACTATACTATAGTCTATGAAGTATGAAATAGCATTATGTCTAAAAAATGTAGACATCTTGATTAGAAATTAATGCCAAAAATGCTAATGGTCATCTGAAAGTTGTATCTATTTGCTGGAGGGTCTTGCCTTGATGTTGATGGCTGCTGACTGATCAGAGTGGTGGTTGCTGAAGGTCGAGGTGGCTGCGACAATTTATTAAGATAAGACAACAGTGAGATTTGCTTTCACACAAAATTTCTCTGTAGCATGCAATGCTGTTTGACAGCATTTTACCCACAGTAGAACTTCTTTCAAAATTGGAGTCGATCCTCTCAAACCCTGCTGCTGCTTTATCAATTAAGTTGATGCAATATTCTAAATCCTTTGTTGTCATTTCAACAATGTTCACAGCATCTTCACCAATAGATTCCATCTCAAGAAACCACTTTCTTTGCTCCTCCATAAGAGGCAACTCCTCATCCACTGAAATTTGATCATGACATTGCAGCAACTCAGTTCCATCCTCAGGCCCCACTTCTCATTCTAGTTCTCTTGCTATTTATTTCCACCACATCTGCAGTTACTTCCTCTTGAAGTCTTGAGCCCCTCAGTCATTCATGAAGTTTGGAATCCACTTCTTCTAAACTCCTATTGATGTTAATAATTTGACCTCCTTCTACGAATCATGAATGTTCTGAATGGCACTGAGAATAGTGAATACTTTCCAGAAGCTTTTCCATTGATTTTGCCCAGATCCACCAGAGGAATCACTATCTATGGCAGCAATAGTCTTATAAAATGTATTTCTTAAATAAGACTTGAAAGCCAAAATTACTCCTTGATCCATAGGTTGCAGAATGGATGTTGCATTAGCAGGCATGAAAATAACATTCGTCTCCTTGTACATCATTTTTTTTTTTTTTTTTGGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTGGCTGGGACTACAGGTGCCCACCACCACATCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGCCAGGCTGGTCTTGAACTCCTGACCCTGTGATCCACCCACCTCAGCCTCCCAAAATGCTGGGATTCCAGGTGTAAGCCCCTGCAGCCAGCCTCTTGTACATAATTTTTAAGAGCCCCAGAATTTTTGGAATGGTCACTGAGCATTGGCTTCAATTGAAAGTCAGCAGTGCATTAGCTCCTGACAGGAGAGTCAGCCTGTCTTTTGAAGCCTTGAAGCCAGCCATTGACTTCTCTCTAGCTATGAAAGTCCTAGATGACATCTTCTTCCAATAGAAGGCTGGTTCATCTACATGGAAAATCTGCTGTTGAGTGTAATCACCTTCATCAATGATTCTAGCTAGACCTTCTGGAAAACTTGTTGCAGCTTCTCCACCAGCACTTGTTGCTTCACCTTGCACTTTTATATTTTGGAGACAGCTTCTTGCTTTGAACCTCATGAGGCGATCTCTGTGAGCCTCCAACTTACCTTCTGCAACTTCCTTACCTCTCTCAGCCTTCATAGAATTGAAGAGACAGTCTTCCTCTAGATTAGGCTTTGGCTTAAGGGAATGTTGTGGCTGGTTTGATCTATTCAGACCCCTAAAATTTTCTCCATATCAGCAAATAAGGCTGTTTCACTTTCCTATCATTTGCA
|
AGCCTTGGGCTCCTCTGCAGAAAAAGGATCCTATAATTCATCTCTGCCTCACCGACCCCTGCCTGCCACCCTCCTTTGTCTACTTGTGGGAACAAATGTGTGCAACTTTTATAAACTGTAAAGTGCTGACCATAACTGAGGGGCCTCATGGCAGAGCAGACAGGGGCTTTGCAGTTGGAGCCAGCTCCCGTACTATGTTTTTCTGAGTCTCAGTTTTCCTGACTGCCAGTTGGCTAGTGGGGGTGCAAGGGTAGGGGTGAGCAGGTGGACGGTGGCAGTGTGGGGGACACCCTGTAAGCTTCACGTGGAAGCGAGACGGTTCCCCGCAAAGTCTTGCTGTCGGGGGTCTCGACATTGCTTTCTGCTCAGCCACTTGACCCTGATCCCTGCTGGTCCTGCAGGCCCAGCTCCCCGAGGGCCAGAAGAAGAGCAGTGTGAGGCACAAGCTGGTGCATTTGACTCTGAAAAAGAAGTCCAAGCTCACAGAGGAGGTGAGGGCAGACGCTGGGGGTCTGGCAGCCCAGGGGTGGCTGCCTTAGGTGGCCTAGGCTGGAGCACAGCTGAGCTGGGGGCCCACGGAAGCAGGAGCAGGAGTGGACACTGTCTGTCCTCAGGGGTCTTGGCTGGCCAGGGACAGGACAACATGAGTGGGTTGGTGGGCGATCAGGCAGACAGGAGTGTCTGAAGAGGGTGGGATCTCAGGCCGGGGGTGGGAAGGGCTTCCTAGCAGAGGGCACTGAGCAGGGGAGGCCGGTAGCGGCACAGCTGAGAGGGAATACACTTCTAGCCGGGCACAGACCCGAGGCACTTGGTCCAAGGACCTTTGAGGCATGGGAGCTTTCTGTGGAACAAGAGTGCTCATGGAGCATGAACAGGATTAATTTATTTGAATTCATTCTTCAGTCACTTTGCCTTTTCTGGGCACTGTCCCAGCCCTTGTGCTCTGGGGTTGTCCAGGCTGGTGTGTGTGTGGCAGGGGAGGATACACTGGAGAGGCAGACACAAACCAAGGCATTCACAGCCTTGGGGGCCAGGCCCCCATCCCCACATTTGCACATGCCAGTCCCTCTGCCTGAAACTCCTCCTTTCTCTGCCTGGGGTCACCTCCTCCAGGAAGCCTCCCCAGCTCCTCCACTGCAGAGTCAGGGGCTCCCACTTCACCTCTGCCCTTGTCCTGTCCCCACCTGAGGCACAAATCCAGCCTTGCAGGTGTGTGGCCTCAGATTTGAATCCCACCTCTGCCGCTTAGTATTCAAGGGACCCAGGGAAGAAAATGCCCACTCCGTGGGGTCCTGGGAAGAAGGCAGAAATGGCAGCCGAGGGTGTTCAGTGGTGCTCCCTGTCTGCACCACCCACTCCTGCCGCTCGCCTCTCACTCACCCTACATCCTCTGGGCAGAGCTCGGGGCTTGTGCTGTGGGCTGTGTGGGATGAGAGAGGAGAAACATCTCATAAGAACTGGTGTGAGGCTGGTCACATCGGGGCTAAGGGTGTTGGTGACAGAGTGGTGGTGACTGGTGGTTGGAACCTGGAGTATACTCCAGGTGCCACAGTTATGTTGGCGGGGGCACCCCAGAGAGATAGGGGTCCCGCTTGGAGTCAGAGGATCATGTCCCTGTCCTGGCTGAGAGGACCTCCCTGGGGTGGGGTGTGGGGTGCAGGGTATCGAGGAGGTGGCCAGAGGAGCTCTGTCCCCAGAAGTGGGTGGCACCGGGCCAGTGTGCCCCTGCTGTGTGGGCCAGTTATTGGCCCAGCATCTGCTGTGCACGTGGCAGGGGTAATGACAGTGATGGGGAGCCCAGTTCTTCTGCTCACTCCTTAGATTCTGTTTTCTGGGGAGCAGGCAGCCTCGGGTGCTGGTGCCCTGGCTGGCAGGGGAACACCCCTAACTTTACCTGCCCTGTCCTCTCCCTCTGGCCCAGGTGACCAAGAGGCTGCATGACGGGGAGTCCACAGTGCAGGGCAACAGCATGCTGGAGGACCGGCCCACCTCCAACCTGGAGAAGCTGCACTTCATCATCGGCAATGGCATCCTGCGGCCAGCACTCCAGTCAGTGCCGGGAGGCGGGGACACCAGGGCCTGAAAGTCTTTTGGTGGCTGAGTGGTGCCTCTGTCAACCTAGCAAGAGATTAAGCCAAGCAGGCCTGGGTTTGGCTTCGCTGCTAGCTAGTTGGTGGAGTTAGGACCTTGGTGGAGTTATTTCATCTTTCTAAGCCTCTGATTCCTTGTCTGTAAAGGGGGAATCCTAAAACAGGCATCCCTTGGAGATATTGCAGGTTCAGTTGAAGGCCACAGAAATAAATATCACAATAAAGAGAGCTGCAGAAATATTTTGGTTTCCCAGTGCATATAAAAGTCATATTTATACTATACTATAGTCTATGAAGTATGAAATAGCATTATGTCTAAAAAATGTAGACATCTTGATTAGAAATTAATGCCAAAAATGCTAATGGTCATCTGAAAGTTGTATCTATTTGCTGGAGGGTCTTGCCTTGATGTTGATGGCTGCTGACTGATCAGAGTGGTGGTTGCTGAAGGTCGAGGTGGCTGCGACAATTTATTAAGATAAGACAACAGTGAGATTTGCTTTCACACAAAATTTCTCTGTAGCATGCAATGCTGTTTGACAGCATTTTACCCACAGTAGAACTTCTTTCAAAATTGGAGTCGATCCTCTCAAACCCTGCTGCTGCTTTATCAATTAAGTTGATGCAATATTCTAAATCCTTTGTTGTCATTTCAACAATGTTCACAGCATCTTCACCAATAGATTCCATCTCAAGAAACCACTTTCTTTGCTCCTCCATAAGAGGCAACTCCTCATCCACTGAAATTTGATCATGACATTGCAGCAACTCAGTTCCATCCTCAGGCCCCACTTCTCATTCTAGTTCTCTTGCTATTTATTTCCACCACATCTGCAGTTACTTCCTCTTGAAGTCTTGAGCCCCTCAGTCATTCATGAAGTTTGGAATCCACTTCTTCTAAACTCCTATTGATGTTAATAATTTGACCTCCTTCTACGAATCATGAATGTTCTGAATGGCACTGAGAATAGTGAATACTTTCCAGAAGCTTTTCCATTGATTTTGCCCAGATCCACCAGAGGAATCACTATCTATGGCAGCAATAGTCTTATAAAATGTATTTCTTAAATAAGACTTGAAAGCCAAAATTACTCCTTGATCCATAGGTTGCAGAATGGATGTTGCATTAGCAGGCATGAAAATAACATTCGTCTCCTTGTACATCATTTTTTTTTTTTTTTTTGGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTGGCTGGGACTACAGGTGCCCACCACCACATCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGCCAGGCTGGTCTTGAACTCCTGACCCTGTGATCCACCCACCTCAGCCTCCCAAAATGCTGGGATTCCAGGTGTAAGCCCCTGCAGCCAGCCTCTTGTACATAATTTTTAAGAGCCCCAGAATTTTTGGAATGGTCACTGAGCATTGGCTTCAATTGAAAGTCAGCAGTGCATTAGCTCCTGACAGGAGAGTCAGCCTGTCTTTTGAAGCCTTGAAGCCAGCCATTGACTTCTCTCTAGCTATGAAAGTCCTAGATGACATCTTCTTCCAATAGAAGGCTGGTTCATCTACATGGAAAATCTGCTGTTGAGTGTAATCACCTTCATCAATGATTCTAGCTAGACCTTCTGGAAAACTTGTTGCAGCTTCTCCACCAGCACTTGTTGCTTCACCTTGCACTTTTATATTTTGGAGACAGCTTCTTGCTTTGAACCTCATGAGGCGATCTCTGTGAGCCTCCAACTTACCTTCTGCAACTTCCTTACCTCTCTCAGCCTTCATAGAATTGAAGAGACAGTCTTCCTCTAGATTAGGCTTTGGCTTAAGGGAATGTTGTGGCTGGTTTGATCTATTCAGACCCCTAAAATTTTCTCCATATCAGCAAATAAGGCTGTTTCACTTTCCTATCATTTGCA
|
Task1_train_16338
|
A variant has been detected on Chromosome 11 in MYO7A (myosin VIIA). What is its effect — pathogenic or benign? If pathogenic, name the disease.
|
Pathogenic; Autosomal recessive nonsyndromic hearing loss 2
|
AACCAATTTGTAAAAAATGCAATGTCTGCAAAGTGTAATAAAGTGAAGTACAGTAAAATGAGGTGTGCCTGCAGTAGCTACCTCATACATAGGCTTGTGGGAAGATAAAGCTATGAAAACTGTGTAGCACCAGACCTGGAGCATAGTAAGCGCCCCGTAGATGGTAGCTTTGATCATCATCATCCAACATGCATTTCCTGCTTTAACCCCGCTGCCGCCAGCTCACCTCCAGTCACCCACCCTAGGCCCACGGTTAAGGTTACTGTGCCTGGGAATCCTGCAAGTACCTCCTTCCCCACAGGGCCAGGAGAGGCCTTTACCCAGGTCCCTGGGGTTTTGGGGAGTTGAAGGGAAGACCCAGGAGTCACCAGGAGCCACCAAAAAATCAACTCAGCTGATGAGAGGAGGGCTAGGACTTTTCTGAGAACAGTCTCTGCATAGGACAGGTCTGTCGGGAGAGCTGATGCCATGAATGTGTGCATGCTGGTTGGGAGGACAGCAGGATGAGGCAGGGACCAAGCCCCACTTTCCTGATGGGGAAACTGAGGTCCAGAGTAGGGAAGAGATTTGCCCAGGGGTCACTAGGCCTCCTGCCTCCTATCAGGCCCCCGTTTTTATCTCCCCAAGGCTAGTCACTACCTCACCGGGGTGGCCACACTGCCCAGGGCCACCTGCCAACAGGAGGAAAAGGCAGCTGCTGCAGGCGTGTCTCAGGGGCAAGAATTTGCCTCCAAATTATCTCACCATCATACCTAAAGCTGACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTTGTGTGTGTTATAAATGTTCTCATTTATCATGATAAAAAAATGGGTAACTTCAGAATTTTCTTTGAAATTATAAACTCTCAAAACTGTTGAGCCACTGAATTAGGTAATCCCAGCCATCCTTTGGGAGAGAAGAGCAGCAGTGAGTGCCCCCTGGCGGACACTGCATCGTCATGTGTCCTGCCCTTGTCCTTGAACAGGCAGGCTGCAGTCTTAGAGTACTCAGTTTGCAGAAGAGAAGAACAAGCCCAGCAATAATTGCAGCTGGCATTTATGAGGGGTTCACTGTGCCTGGCACTGTGCTAGGTGTGTCATAAGCCTTGGCTCATTCATCTTCACAGCAATCTTGTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACGAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAG
|
AACCAATTTGTAAAAAATGCAATGTCTGCAAAGTGTAATAAAGTGAAGTACAGTAAAATGAGGTGTGCCTGCAGTAGCTACCTCATACATAGGCTTGTGGGAAGATAAAGCTATGAAAACTGTGTAGCACCAGACCTGGAGCATAGTAAGCGCCCCGTAGATGGTAGCTTTGATCATCATCATCCAACATGCATTTCCTGCTTTAACCCCGCTGCCGCCAGCTCACCTCCAGTCACCCACCCTAGGCCCACGGTTAAGGTTACTGTGCCTGGGAATCCTGCAAGTACCTCCTTCCCCACAGGGCCAGGAGAGGCCTTTACCCAGGTCCCTGGGGTTTTGGGGAGTTGAAGGGAAGACCCAGGAGTCACCAGGAGCCACCAAAAAATCAACTCAGCTGATGAGAGGAGGGCTAGGACTTTTCTGAGAACAGTCTCTGCATAGGACAGGTCTGTCGGGAGAGCTGATGCCATGAATGTGTGCATGCTGGTTGGGAGGACAGCAGGATGAGGCAGGGACCAAGCCCCACTTTCCTGATGGGGAAACTGAGGTCCAGAGTAGGGAAGAGATTTGCCCAGGGGTCACTAGGCCTCCTGCCTCCTATCAGGCCCCCGTTTTTATCTCCCCAAGGCTAGTCACTACCTCACCGGGGTGGCCACACTGCCCAGGGCCACCTGCCAACAGGAGGAAAAGGCAGCTGCTGCAGGCGTGTCTCAGGGGCAAGAATTTGCCTCCAAATTATCTCACCATCATACCTAAAGCTGACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTTGTGTGTGTTATAAATGTTCTCATTTATCATGATAAAAAAATGGGTAACTTCAGAATTTTCTTTGAAATTATAAACTCTCAAAACTGTTGAGCCACTGAATTAGGTAATCCCAGCCATCCTTTGGGAGAGAAGAGCAGCAGTGAGTGCCCCCTGGCGGACACTGCATCGTCATGTGTCCTGCCCTTGTCCTTGAACAGGCAGGCTGCAGTCTTAGAGTACTCAGTTTGCAGAAGAGAAGAACAAGCCCAGCAATAATTGCAGCTGGCATTTATGAGGGGTTCACTGTGCCTGGCACTGTGCTAGGTGTGTCATAAGCCTTGGCTCATTCATCTTCACAGCAATCTTGTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACAAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAG
|
Task1_train_16339
|
A variant affecting Chromosome 11, within the gene MYO7A (myosin VIIA), has been observed. Determine if it's benign or associated with disease.
|
Pathogenic; Usher syndrome type 1
|
AACCAATTTGTAAAAAATGCAATGTCTGCAAAGTGTAATAAAGTGAAGTACAGTAAAATGAGGTGTGCCTGCAGTAGCTACCTCATACATAGGCTTGTGGGAAGATAAAGCTATGAAAACTGTGTAGCACCAGACCTGGAGCATAGTAAGCGCCCCGTAGATGGTAGCTTTGATCATCATCATCCAACATGCATTTCCTGCTTTAACCCCGCTGCCGCCAGCTCACCTCCAGTCACCCACCCTAGGCCCACGGTTAAGGTTACTGTGCCTGGGAATCCTGCAAGTACCTCCTTCCCCACAGGGCCAGGAGAGGCCTTTACCCAGGTCCCTGGGGTTTTGGGGAGTTGAAGGGAAGACCCAGGAGTCACCAGGAGCCACCAAAAAATCAACTCAGCTGATGAGAGGAGGGCTAGGACTTTTCTGAGAACAGTCTCTGCATAGGACAGGTCTGTCGGGAGAGCTGATGCCATGAATGTGTGCATGCTGGTTGGGAGGACAGCAGGATGAGGCAGGGACCAAGCCCCACTTTCCTGATGGGGAAACTGAGGTCCAGAGTAGGGAAGAGATTTGCCCAGGGGTCACTAGGCCTCCTGCCTCCTATCAGGCCCCCGTTTTTATCTCCCCAAGGCTAGTCACTACCTCACCGGGGTGGCCACACTGCCCAGGGCCACCTGCCAACAGGAGGAAAAGGCAGCTGCTGCAGGCGTGTCTCAGGGGCAAGAATTTGCCTCCAAATTATCTCACCATCATACCTAAAGCTGACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTTGTGTGTGTTATAAATGTTCTCATTTATCATGATAAAAAAATGGGTAACTTCAGAATTTTCTTTGAAATTATAAACTCTCAAAACTGTTGAGCCACTGAATTAGGTAATCCCAGCCATCCTTTGGGAGAGAAGAGCAGCAGTGAGTGCCCCCTGGCGGACACTGCATCGTCATGTGTCCTGCCCTTGTCCTTGAACAGGCAGGCTGCAGTCTTAGAGTACTCAGTTTGCAGAAGAGAAGAACAAGCCCAGCAATAATTGCAGCTGGCATTTATGAGGGGTTCACTGTGCCTGGCACTGTGCTAGGTGTGTCATAAGCCTTGGCTCATTCATCTTCACAGCAATCTTGTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACGAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAG
|
AACCAATTTGTAAAAAATGCAATGTCTGCAAAGTGTAATAAAGTGAAGTACAGTAAAATGAGGTGTGCCTGCAGTAGCTACCTCATACATAGGCTTGTGGGAAGATAAAGCTATGAAAACTGTGTAGCACCAGACCTGGAGCATAGTAAGCGCCCCGTAGATGGTAGCTTTGATCATCATCATCCAACATGCATTTCCTGCTTTAACCCCGCTGCCGCCAGCTCACCTCCAGTCACCCACCCTAGGCCCACGGTTAAGGTTACTGTGCCTGGGAATCCTGCAAGTACCTCCTTCCCCACAGGGCCAGGAGAGGCCTTTACCCAGGTCCCTGGGGTTTTGGGGAGTTGAAGGGAAGACCCAGGAGTCACCAGGAGCCACCAAAAAATCAACTCAGCTGATGAGAGGAGGGCTAGGACTTTTCTGAGAACAGTCTCTGCATAGGACAGGTCTGTCGGGAGAGCTGATGCCATGAATGTGTGCATGCTGGTTGGGAGGACAGCAGGATGAGGCAGGGACCAAGCCCCACTTTCCTGATGGGGAAACTGAGGTCCAGAGTAGGGAAGAGATTTGCCCAGGGGTCACTAGGCCTCCTGCCTCCTATCAGGCCCCCGTTTTTATCTCCCCAAGGCTAGTCACTACCTCACCGGGGTGGCCACACTGCCCAGGGCCACCTGCCAACAGGAGGAAAAGGCAGCTGCTGCAGGCGTGTCTCAGGGGCAAGAATTTGCCTCCAAATTATCTCACCATCATACCTAAAGCTGACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTTGTGTGTGTTATAAATGTTCTCATTTATCATGATAAAAAAATGGGTAACTTCAGAATTTTCTTTGAAATTATAAACTCTCAAAACTGTTGAGCCACTGAATTAGGTAATCCCAGCCATCCTTTGGGAGAGAAGAGCAGCAGTGAGTGCCCCCTGGCGGACACTGCATCGTCATGTGTCCTGCCCTTGTCCTTGAACAGGCAGGCTGCAGTCTTAGAGTACTCAGTTTGCAGAAGAGAAGAACAAGCCCAGCAATAATTGCAGCTGGCATTTATGAGGGGTTCACTGTGCCTGGCACTGTGCTAGGTGTGTCATAAGCCTTGGCTCATTCATCTTCACAGCAATCTTGTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACAAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAG
|
Task1_train_16340
|
This variant impacts the gene MYO7A (myosin VIIA) on Chromosome 11. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; Autosomal dominant nonsyndromic hearing loss 11
|
AACCAATTTGTAAAAAATGCAATGTCTGCAAAGTGTAATAAAGTGAAGTACAGTAAAATGAGGTGTGCCTGCAGTAGCTACCTCATACATAGGCTTGTGGGAAGATAAAGCTATGAAAACTGTGTAGCACCAGACCTGGAGCATAGTAAGCGCCCCGTAGATGGTAGCTTTGATCATCATCATCCAACATGCATTTCCTGCTTTAACCCCGCTGCCGCCAGCTCACCTCCAGTCACCCACCCTAGGCCCACGGTTAAGGTTACTGTGCCTGGGAATCCTGCAAGTACCTCCTTCCCCACAGGGCCAGGAGAGGCCTTTACCCAGGTCCCTGGGGTTTTGGGGAGTTGAAGGGAAGACCCAGGAGTCACCAGGAGCCACCAAAAAATCAACTCAGCTGATGAGAGGAGGGCTAGGACTTTTCTGAGAACAGTCTCTGCATAGGACAGGTCTGTCGGGAGAGCTGATGCCATGAATGTGTGCATGCTGGTTGGGAGGACAGCAGGATGAGGCAGGGACCAAGCCCCACTTTCCTGATGGGGAAACTGAGGTCCAGAGTAGGGAAGAGATTTGCCCAGGGGTCACTAGGCCTCCTGCCTCCTATCAGGCCCCCGTTTTTATCTCCCCAAGGCTAGTCACTACCTCACCGGGGTGGCCACACTGCCCAGGGCCACCTGCCAACAGGAGGAAAAGGCAGCTGCTGCAGGCGTGTCTCAGGGGCAAGAATTTGCCTCCAAATTATCTCACCATCATACCTAAAGCTGACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTTGTGTGTGTTATAAATGTTCTCATTTATCATGATAAAAAAATGGGTAACTTCAGAATTTTCTTTGAAATTATAAACTCTCAAAACTGTTGAGCCACTGAATTAGGTAATCCCAGCCATCCTTTGGGAGAGAAGAGCAGCAGTGAGTGCCCCCTGGCGGACACTGCATCGTCATGTGTCCTGCCCTTGTCCTTGAACAGGCAGGCTGCAGTCTTAGAGTACTCAGTTTGCAGAAGAGAAGAACAAGCCCAGCAATAATTGCAGCTGGCATTTATGAGGGGTTCACTGTGCCTGGCACTGTGCTAGGTGTGTCATAAGCCTTGGCTCATTCATCTTCACAGCAATCTTGTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACGAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAG
|
AACCAATTTGTAAAAAATGCAATGTCTGCAAAGTGTAATAAAGTGAAGTACAGTAAAATGAGGTGTGCCTGCAGTAGCTACCTCATACATAGGCTTGTGGGAAGATAAAGCTATGAAAACTGTGTAGCACCAGACCTGGAGCATAGTAAGCGCCCCGTAGATGGTAGCTTTGATCATCATCATCCAACATGCATTTCCTGCTTTAACCCCGCTGCCGCCAGCTCACCTCCAGTCACCCACCCTAGGCCCACGGTTAAGGTTACTGTGCCTGGGAATCCTGCAAGTACCTCCTTCCCCACAGGGCCAGGAGAGGCCTTTACCCAGGTCCCTGGGGTTTTGGGGAGTTGAAGGGAAGACCCAGGAGTCACCAGGAGCCACCAAAAAATCAACTCAGCTGATGAGAGGAGGGCTAGGACTTTTCTGAGAACAGTCTCTGCATAGGACAGGTCTGTCGGGAGAGCTGATGCCATGAATGTGTGCATGCTGGTTGGGAGGACAGCAGGATGAGGCAGGGACCAAGCCCCACTTTCCTGATGGGGAAACTGAGGTCCAGAGTAGGGAAGAGATTTGCCCAGGGGTCACTAGGCCTCCTGCCTCCTATCAGGCCCCCGTTTTTATCTCCCCAAGGCTAGTCACTACCTCACCGGGGTGGCCACACTGCCCAGGGCCACCTGCCAACAGGAGGAAAAGGCAGCTGCTGCAGGCGTGTCTCAGGGGCAAGAATTTGCCTCCAAATTATCTCACCATCATACCTAAAGCTGACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTTGTGTGTGTTATAAATGTTCTCATTTATCATGATAAAAAAATGGGTAACTTCAGAATTTTCTTTGAAATTATAAACTCTCAAAACTGTTGAGCCACTGAATTAGGTAATCCCAGCCATCCTTTGGGAGAGAAGAGCAGCAGTGAGTGCCCCCTGGCGGACACTGCATCGTCATGTGTCCTGCCCTTGTCCTTGAACAGGCAGGCTGCAGTCTTAGAGTACTCAGTTTGCAGAAGAGAAGAACAAGCCCAGCAATAATTGCAGCTGGCATTTATGAGGGGTTCACTGTGCCTGGCACTGTGCTAGGTGTGTCATAAGCCTTGGCTCATTCATCTTCACAGCAATCTTGTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACAAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAG
|
Task1_train_16341
|
This sequence change occurs on Chromosome 11, altering MYO7A (myosin VIIA). What is the medical significance of this variant — is it benign or linked to a disease?
|
Pathogenic; Retinal dystrophy
|
AACCAATTTGTAAAAAATGCAATGTCTGCAAAGTGTAATAAAGTGAAGTACAGTAAAATGAGGTGTGCCTGCAGTAGCTACCTCATACATAGGCTTGTGGGAAGATAAAGCTATGAAAACTGTGTAGCACCAGACCTGGAGCATAGTAAGCGCCCCGTAGATGGTAGCTTTGATCATCATCATCCAACATGCATTTCCTGCTTTAACCCCGCTGCCGCCAGCTCACCTCCAGTCACCCACCCTAGGCCCACGGTTAAGGTTACTGTGCCTGGGAATCCTGCAAGTACCTCCTTCCCCACAGGGCCAGGAGAGGCCTTTACCCAGGTCCCTGGGGTTTTGGGGAGTTGAAGGGAAGACCCAGGAGTCACCAGGAGCCACCAAAAAATCAACTCAGCTGATGAGAGGAGGGCTAGGACTTTTCTGAGAACAGTCTCTGCATAGGACAGGTCTGTCGGGAGAGCTGATGCCATGAATGTGTGCATGCTGGTTGGGAGGACAGCAGGATGAGGCAGGGACCAAGCCCCACTTTCCTGATGGGGAAACTGAGGTCCAGAGTAGGGAAGAGATTTGCCCAGGGGTCACTAGGCCTCCTGCCTCCTATCAGGCCCCCGTTTTTATCTCCCCAAGGCTAGTCACTACCTCACCGGGGTGGCCACACTGCCCAGGGCCACCTGCCAACAGGAGGAAAAGGCAGCTGCTGCAGGCGTGTCTCAGGGGCAAGAATTTGCCTCCAAATTATCTCACCATCATACCTAAAGCTGACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTTGTGTGTGTTATAAATGTTCTCATTTATCATGATAAAAAAATGGGTAACTTCAGAATTTTCTTTGAAATTATAAACTCTCAAAACTGTTGAGCCACTGAATTAGGTAATCCCAGCCATCCTTTGGGAGAGAAGAGCAGCAGTGAGTGCCCCCTGGCGGACACTGCATCGTCATGTGTCCTGCCCTTGTCCTTGAACAGGCAGGCTGCAGTCTTAGAGTACTCAGTTTGCAGAAGAGAAGAACAAGCCCAGCAATAATTGCAGCTGGCATTTATGAGGGGTTCACTGTGCCTGGCACTGTGCTAGGTGTGTCATAAGCCTTGGCTCATTCATCTTCACAGCAATCTTGTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACGAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAG
|
AACCAATTTGTAAAAAATGCAATGTCTGCAAAGTGTAATAAAGTGAAGTACAGTAAAATGAGGTGTGCCTGCAGTAGCTACCTCATACATAGGCTTGTGGGAAGATAAAGCTATGAAAACTGTGTAGCACCAGACCTGGAGCATAGTAAGCGCCCCGTAGATGGTAGCTTTGATCATCATCATCCAACATGCATTTCCTGCTTTAACCCCGCTGCCGCCAGCTCACCTCCAGTCACCCACCCTAGGCCCACGGTTAAGGTTACTGTGCCTGGGAATCCTGCAAGTACCTCCTTCCCCACAGGGCCAGGAGAGGCCTTTACCCAGGTCCCTGGGGTTTTGGGGAGTTGAAGGGAAGACCCAGGAGTCACCAGGAGCCACCAAAAAATCAACTCAGCTGATGAGAGGAGGGCTAGGACTTTTCTGAGAACAGTCTCTGCATAGGACAGGTCTGTCGGGAGAGCTGATGCCATGAATGTGTGCATGCTGGTTGGGAGGACAGCAGGATGAGGCAGGGACCAAGCCCCACTTTCCTGATGGGGAAACTGAGGTCCAGAGTAGGGAAGAGATTTGCCCAGGGGTCACTAGGCCTCCTGCCTCCTATCAGGCCCCCGTTTTTATCTCCCCAAGGCTAGTCACTACCTCACCGGGGTGGCCACACTGCCCAGGGCCACCTGCCAACAGGAGGAAAAGGCAGCTGCTGCAGGCGTGTCTCAGGGGCAAGAATTTGCCTCCAAATTATCTCACCATCATACCTAAAGCTGACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTTGTGTGTGTTATAAATGTTCTCATTTATCATGATAAAAAAATGGGTAACTTCAGAATTTTCTTTGAAATTATAAACTCTCAAAACTGTTGAGCCACTGAATTAGGTAATCCCAGCCATCCTTTGGGAGAGAAGAGCAGCAGTGAGTGCCCCCTGGCGGACACTGCATCGTCATGTGTCCTGCCCTTGTCCTTGAACAGGCAGGCTGCAGTCTTAGAGTACTCAGTTTGCAGAAGAGAAGAACAAGCCCAGCAATAATTGCAGCTGGCATTTATGAGGGGTTCACTGTGCCTGGCACTGTGCTAGGTGTGTCATAAGCCTTGGCTCATTCATCTTCACAGCAATCTTGTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACAAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAG
|
Task1_train_16342
|
This alteration in MYO7A (myosin VIIA) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; Autosomal recessive nonsyndromic hearing loss 2
|
AACCAATTTGTAAAAAATGCAATGTCTGCAAAGTGTAATAAAGTGAAGTACAGTAAAATGAGGTGTGCCTGCAGTAGCTACCTCATACATAGGCTTGTGGGAAGATAAAGCTATGAAAACTGTGTAGCACCAGACCTGGAGCATAGTAAGCGCCCCGTAGATGGTAGCTTTGATCATCATCATCCAACATGCATTTCCTGCTTTAACCCCGCTGCCGCCAGCTCACCTCCAGTCACCCACCCTAGGCCCACGGTTAAGGTTACTGTGCCTGGGAATCCTGCAAGTACCTCCTTCCCCACAGGGCCAGGAGAGGCCTTTACCCAGGTCCCTGGGGTTTTGGGGAGTTGAAGGGAAGACCCAGGAGTCACCAGGAGCCACCAAAAAATCAACTCAGCTGATGAGAGGAGGGCTAGGACTTTTCTGAGAACAGTCTCTGCATAGGACAGGTCTGTCGGGAGAGCTGATGCCATGAATGTGTGCATGCTGGTTGGGAGGACAGCAGGATGAGGCAGGGACCAAGCCCCACTTTCCTGATGGGGAAACTGAGGTCCAGAGTAGGGAAGAGATTTGCCCAGGGGTCACTAGGCCTCCTGCCTCCTATCAGGCCCCCGTTTTTATCTCCCCAAGGCTAGTCACTACCTCACCGGGGTGGCCACACTGCCCAGGGCCACCTGCCAACAGGAGGAAAAGGCAGCTGCTGCAGGCGTGTCTCAGGGGCAAGAATTTGCCTCCAAATTATCTCACCATCATACCTAAAGCTGACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTTGTGTGTGTTATAAATGTTCTCATTTATCATGATAAAAAAATGGGTAACTTCAGAATTTTCTTTGAAATTATAAACTCTCAAAACTGTTGAGCCACTGAATTAGGTAATCCCAGCCATCCTTTGGGAGAGAAGAGCAGCAGTGAGTGCCCCCTGGCGGACACTGCATCGTCATGTGTCCTGCCCTTGTCCTTGAACAGGCAGGCTGCAGTCTTAGAGTACTCAGTTTGCAGAAGAGAAGAACAAGCCCAGCAATAATTGCAGCTGGCATTTATGAGGGGTTCACTGTGCCTGGCACTGTGCTAGGTGTGTCATAAGCCTTGGCTCATTCATCTTCACAGCAATCTTGTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACGAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAG
|
AACCAATTTGTAAAAAATGCAATGTCTGCAAAGTGTAATAAAGTGAAGTACAGTAAAATGAGGTGTGCCTGCAGTAGCTACCTCATACATAGGCTTGTGGGAAGATAAAGCTATGAAAACTGTGTAGCACCAGACCTGGAGCATAGTAAGCGCCCCGTAGATGGTAGCTTTGATCATCATCATCCAACATGCATTTCCTGCTTTAACCCCGCTGCCGCCAGCTCACCTCCAGTCACCCACCCTAGGCCCACGGTTAAGGTTACTGTGCCTGGGAATCCTGCAAGTACCTCCTTCCCCACAGGGCCAGGAGAGGCCTTTACCCAGGTCCCTGGGGTTTTGGGGAGTTGAAGGGAAGACCCAGGAGTCACCAGGAGCCACCAAAAAATCAACTCAGCTGATGAGAGGAGGGCTAGGACTTTTCTGAGAACAGTCTCTGCATAGGACAGGTCTGTCGGGAGAGCTGATGCCATGAATGTGTGCATGCTGGTTGGGAGGACAGCAGGATGAGGCAGGGACCAAGCCCCACTTTCCTGATGGGGAAACTGAGGTCCAGAGTAGGGAAGAGATTTGCCCAGGGGTCACTAGGCCTCCTGCCTCCTATCAGGCCCCCGTTTTTATCTCCCCAAGGCTAGTCACTACCTCACCGGGGTGGCCACACTGCCCAGGGCCACCTGCCAACAGGAGGAAAAGGCAGCTGCTGCAGGCGTGTCTCAGGGGCAAGAATTTGCCTCCAAATTATCTCACCATCATACCTAAAGCTGACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTTGTGTGTGTTATAAATGTTCTCATTTATCATGATAAAAAAATGGGTAACTTCAGAATTTTCTTTGAAATTATAAACTCTCAAAACTGTTGAGCCACTGAATTAGGTAATCCCAGCCATCCTTTGGGAGAGAAGAGCAGCAGTGAGTGCCCCCTGGCGGACACTGCATCGTCATGTGTCCTGCCCTTGTCCTTGAACAGGCAGGCTGCAGTCTTAGAGTACTCAGTTTGCAGAAGAGAAGAACAAGCCCAGCAATAATTGCAGCTGGCATTTATGAGGGGTTCACTGTGCCTGGCACTGTGCTAGGTGTGTCATAAGCCTTGGCTCATTCATCTTCACAGCAATCTTGTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACAAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAG
|
Task1_train_16343
|
Here’s a variant in MYO7A (myosin VIIA) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; Autosomal recessive nonsyndromic hearing loss 2
|
AACCAATTTGTAAAAAATGCAATGTCTGCAAAGTGTAATAAAGTGAAGTACAGTAAAATGAGGTGTGCCTGCAGTAGCTACCTCATACATAGGCTTGTGGGAAGATAAAGCTATGAAAACTGTGTAGCACCAGACCTGGAGCATAGTAAGCGCCCCGTAGATGGTAGCTTTGATCATCATCATCCAACATGCATTTCCTGCTTTAACCCCGCTGCCGCCAGCTCACCTCCAGTCACCCACCCTAGGCCCACGGTTAAGGTTACTGTGCCTGGGAATCCTGCAAGTACCTCCTTCCCCACAGGGCCAGGAGAGGCCTTTACCCAGGTCCCTGGGGTTTTGGGGAGTTGAAGGGAAGACCCAGGAGTCACCAGGAGCCACCAAAAAATCAACTCAGCTGATGAGAGGAGGGCTAGGACTTTTCTGAGAACAGTCTCTGCATAGGACAGGTCTGTCGGGAGAGCTGATGCCATGAATGTGTGCATGCTGGTTGGGAGGACAGCAGGATGAGGCAGGGACCAAGCCCCACTTTCCTGATGGGGAAACTGAGGTCCAGAGTAGGGAAGAGATTTGCCCAGGGGTCACTAGGCCTCCTGCCTCCTATCAGGCCCCCGTTTTTATCTCCCCAAGGCTAGTCACTACCTCACCGGGGTGGCCACACTGCCCAGGGCCACCTGCCAACAGGAGGAAAAGGCAGCTGCTGCAGGCGTGTCTCAGGGGCAAGAATTTGCCTCCAAATTATCTCACCATCATACCTAAAGCTGACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTTGTGTGTGTTATAAATGTTCTCATTTATCATGATAAAAAAATGGGTAACTTCAGAATTTTCTTTGAAATTATAAACTCTCAAAACTGTTGAGCCACTGAATTAGGTAATCCCAGCCATCCTTTGGGAGAGAAGAGCAGCAGTGAGTGCCCCCTGGCGGACACTGCATCGTCATGTGTCCTGCCCTTGTCCTTGAACAGGCAGGCTGCAGTCTTAGAGTACTCAGTTTGCAGAAGAGAAGAACAAGCCCAGCAATAATTGCAGCTGGCATTTATGAGGGGTTCACTGTGCCTGGCACTGTGCTAGGTGTGTCATAAGCCTTGGCTCATTCATCTTCACAGCAATCTTGTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACGAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAG
|
AACCAATTTGTAAAAAATGCAATGTCTGCAAAGTGTAATAAAGTGAAGTACAGTAAAATGAGGTGTGCCTGCAGTAGCTACCTCATACATAGGCTTGTGGGAAGATAAAGCTATGAAAACTGTGTAGCACCAGACCTGGAGCATAGTAAGCGCCCCGTAGATGGTAGCTTTGATCATCATCATCCAACATGCATTTCCTGCTTTAACCCCGCTGCCGCCAGCTCACCTCCAGTCACCCACCCTAGGCCCACGGTTAAGGTTACTGTGCCTGGGAATCCTGCAAGTACCTCCTTCCCCACAGGGCCAGGAGAGGCCTTTACCCAGGTCCCTGGGGTTTTGGGGAGTTGAAGGGAAGACCCAGGAGTCACCAGGAGCCACCAAAAAATCAACTCAGCTGATGAGAGGAGGGCTAGGACTTTTCTGAGAACAGTCTCTGCATAGGACAGGTCTGTCGGGAGAGCTGATGCCATGAATGTGTGCATGCTGGTTGGGAGGACAGCAGGATGAGGCAGGGACCAAGCCCCACTTTCCTGATGGGGAAACTGAGGTCCAGAGTAGGGAAGAGATTTGCCCAGGGGTCACTAGGCCTCCTGCCTCCTATCAGGCCCCCGTTTTTATCTCCCCAAGGCTAGTCACTACCTCACCGGGGTGGCCACACTGCCCAGGGCCACCTGCCAACAGGAGGAAAAGGCAGCTGCTGCAGGCGTGTCTCAGGGGCAAGAATTTGCCTCCAAATTATCTCACCATCATACCTAAAGCTGACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTTGTGTGTGTTATAAATGTTCTCATTTATCATGATAAAAAAATGGGTAACTTCAGAATTTTCTTTGAAATTATAAACTCTCAAAACTGTTGAGCCACTGAATTAGGTAATCCCAGCCATCCTTTGGGAGAGAAGAGCAGCAGTGAGTGCCCCCTGGCGGACACTGCATCGTCATGTGTCCTGCCCTTGTCCTTGAACAGGCAGGCTGCAGTCTTAGAGTACTCAGTTTGCAGAAGAGAAGAACAAGCCCAGCAATAATTGCAGCTGGCATTTATGAGGGGTTCACTGTGCCTGGCACTGTGCTAGGTGTGTCATAAGCCTTGGCTCATTCATCTTCACAGCAATCTTGTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACAAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAG
|
Task1_train_16344
|
This alteration in MYO7A (myosin VIIA) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; Usher syndrome type 1
|
AACCAATTTGTAAAAAATGCAATGTCTGCAAAGTGTAATAAAGTGAAGTACAGTAAAATGAGGTGTGCCTGCAGTAGCTACCTCATACATAGGCTTGTGGGAAGATAAAGCTATGAAAACTGTGTAGCACCAGACCTGGAGCATAGTAAGCGCCCCGTAGATGGTAGCTTTGATCATCATCATCCAACATGCATTTCCTGCTTTAACCCCGCTGCCGCCAGCTCACCTCCAGTCACCCACCCTAGGCCCACGGTTAAGGTTACTGTGCCTGGGAATCCTGCAAGTACCTCCTTCCCCACAGGGCCAGGAGAGGCCTTTACCCAGGTCCCTGGGGTTTTGGGGAGTTGAAGGGAAGACCCAGGAGTCACCAGGAGCCACCAAAAAATCAACTCAGCTGATGAGAGGAGGGCTAGGACTTTTCTGAGAACAGTCTCTGCATAGGACAGGTCTGTCGGGAGAGCTGATGCCATGAATGTGTGCATGCTGGTTGGGAGGACAGCAGGATGAGGCAGGGACCAAGCCCCACTTTCCTGATGGGGAAACTGAGGTCCAGAGTAGGGAAGAGATTTGCCCAGGGGTCACTAGGCCTCCTGCCTCCTATCAGGCCCCCGTTTTTATCTCCCCAAGGCTAGTCACTACCTCACCGGGGTGGCCACACTGCCCAGGGCCACCTGCCAACAGGAGGAAAAGGCAGCTGCTGCAGGCGTGTCTCAGGGGCAAGAATTTGCCTCCAAATTATCTCACCATCATACCTAAAGCTGACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTTGTGTGTGTTATAAATGTTCTCATTTATCATGATAAAAAAATGGGTAACTTCAGAATTTTCTTTGAAATTATAAACTCTCAAAACTGTTGAGCCACTGAATTAGGTAATCCCAGCCATCCTTTGGGAGAGAAGAGCAGCAGTGAGTGCCCCCTGGCGGACACTGCATCGTCATGTGTCCTGCCCTTGTCCTTGAACAGGCAGGCTGCAGTCTTAGAGTACTCAGTTTGCAGAAGAGAAGAACAAGCCCAGCAATAATTGCAGCTGGCATTTATGAGGGGTTCACTGTGCCTGGCACTGTGCTAGGTGTGTCATAAGCCTTGGCTCATTCATCTTCACAGCAATCTTGTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACGAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAG
|
AACCAATTTGTAAAAAATGCAATGTCTGCAAAGTGTAATAAAGTGAAGTACAGTAAAATGAGGTGTGCCTGCAGTAGCTACCTCATACATAGGCTTGTGGGAAGATAAAGCTATGAAAACTGTGTAGCACCAGACCTGGAGCATAGTAAGCGCCCCGTAGATGGTAGCTTTGATCATCATCATCCAACATGCATTTCCTGCTTTAACCCCGCTGCCGCCAGCTCACCTCCAGTCACCCACCCTAGGCCCACGGTTAAGGTTACTGTGCCTGGGAATCCTGCAAGTACCTCCTTCCCCACAGGGCCAGGAGAGGCCTTTACCCAGGTCCCTGGGGTTTTGGGGAGTTGAAGGGAAGACCCAGGAGTCACCAGGAGCCACCAAAAAATCAACTCAGCTGATGAGAGGAGGGCTAGGACTTTTCTGAGAACAGTCTCTGCATAGGACAGGTCTGTCGGGAGAGCTGATGCCATGAATGTGTGCATGCTGGTTGGGAGGACAGCAGGATGAGGCAGGGACCAAGCCCCACTTTCCTGATGGGGAAACTGAGGTCCAGAGTAGGGAAGAGATTTGCCCAGGGGTCACTAGGCCTCCTGCCTCCTATCAGGCCCCCGTTTTTATCTCCCCAAGGCTAGTCACTACCTCACCGGGGTGGCCACACTGCCCAGGGCCACCTGCCAACAGGAGGAAAAGGCAGCTGCTGCAGGCGTGTCTCAGGGGCAAGAATTTGCCTCCAAATTATCTCACCATCATACCTAAAGCTGACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTTGTGTGTGTTATAAATGTTCTCATTTATCATGATAAAAAAATGGGTAACTTCAGAATTTTCTTTGAAATTATAAACTCTCAAAACTGTTGAGCCACTGAATTAGGTAATCCCAGCCATCCTTTGGGAGAGAAGAGCAGCAGTGAGTGCCCCCTGGCGGACACTGCATCGTCATGTGTCCTGCCCTTGTCCTTGAACAGGCAGGCTGCAGTCTTAGAGTACTCAGTTTGCAGAAGAGAAGAACAAGCCCAGCAATAATTGCAGCTGGCATTTATGAGGGGTTCACTGTGCCTGGCACTGTGCTAGGTGTGTCATAAGCCTTGGCTCATTCATCTTCACAGCAATCTTGTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACAAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAG
|
Task1_train_16345
|
This alteration occurs within gene MYO7A (myosin VIIA) located on Chromosome 11. Is it associated with a disease or is it a benign variant?
|
Pathogenic; MYO7A-related disorder
|
GACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTTGTGTGTGTTATAAATGTTCTCATTTATCATGATAAAAAAATGGGTAACTTCAGAATTTTCTTTGAAATTATAAACTCTCAAAACTGTTGAGCCACTGAATTAGGTAATCCCAGCCATCCTTTGGGAGAGAAGAGCAGCAGTGAGTGCCCCCTGGCGGACACTGCATCGTCATGTGTCCTGCCCTTGTCCTTGAACAGGCAGGCTGCAGTCTTAGAGTACTCAGTTTGCAGAAGAGAAGAACAAGCCCAGCAATAATTGCAGCTGGCATTTATGAGGGGTTCACTGTGCCTGGCACTGTGCTAGGTGTGTCATAAGCCTTGGCTCATTCATCTTCACAGCAATCTTGTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACGAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAGTCCTGTGTCCTCAGGCCCAGTGAATCCTCTCCTGGTGCTGAAGGAAGAGCATGGCACAGGCTGATGGGAGGGCTGCGCAGCCCTTGTGTGCAGATGGGAATGGAATTCCCTCTCAGGTTGCCACGGCATCTGATGGAGAAACTCCTCAGCAAACAGGAGTTCCTTCACACTTGCCCTGAAGCAGCTGGAGTGTGGGCGTCCCGCAGACTCACCTCGGAGGCTGGAGCCTCCTCGGCTGAGCGGGACCTGGGGCTTGGGTGATTTTGCCTCCACCCCCAGCAACGTCATGCTCAGCAGAGGGGCCCCCGCCCACAAGCCCAGGGGAGGTACCGTGTTGCTGGACACAGTTTGCCTGGATTTTTCTCACCGATGCTCTTATGTTTCCAGGTACTGTCTGTTCAGTTTCCCAAAAAGCTTCCACTAGAAAATGGGAATTCCCACGTCACCGTGCCCAGAACTGAGGCTAGGAAGGCAATGGTGGGGGTGCGGCTTAGAGCCCAGGGCTAGAATCTGGTCTGCCTCCTGGGGGCCTTGGACGTGTCCCTGCCCCTCGCTGGGCCTCCGTTTTCTGTCTGAACTGACCGTTGGCCCCGTTGAGGCTCCTCATAGTCCTTCCCTGACTCTGTGCCTGCTCCCCTCCCCTCTGTGCCCACAGGTGTCCTCCCTGGGCAGCGGCAGTGACCACGTCATGGACGCCATCTCCCAGTGCGAGCAGTACGCCAAGGAGCAGGGCGCCCAGGAGCGCAACGCCCCCTGGAGG
|
GACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTTGTGTGTGTTATAAATGTTCTCATTTATCATGATAAAAAAATGGGTAACTTCAGAATTTTCTTTGAAATTATAAACTCTCAAAACTGTTGAGCCACTGAATTAGGTAATCCCAGCCATCCTTTGGGAGAGAAGAGCAGCAGTGAGTGCCCCCTGGCGGACACTGCATCGTCATGTGTCCTGCCCTTGTCCTTGAACAGGCAGGCTGCAGTCTTAGAGTACTCAGTTTGCAGAAGAGAAGAACAAGCCCAGCAATAATTGCAGCTGGCATTTATGAGGGGTTCACTGTGCCTGGCACTGTGCTAGGTGTGTCATAAGCCTTGGCTCATTCATCTTCACAGCAATCTTGTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACGAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACAGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAGTCCTGTGTCCTCAGGCCCAGTGAATCCTCTCCTGGTGCTGAAGGAAGAGCATGGCACAGGCTGATGGGAGGGCTGCGCAGCCCTTGTGTGCAGATGGGAATGGAATTCCCTCTCAGGTTGCCACGGCATCTGATGGAGAAACTCCTCAGCAAACAGGAGTTCCTTCACACTTGCCCTGAAGCAGCTGGAGTGTGGGCGTCCCGCAGACTCACCTCGGAGGCTGGAGCCTCCTCGGCTGAGCGGGACCTGGGGCTTGGGTGATTTTGCCTCCACCCCCAGCAACGTCATGCTCAGCAGAGGGGCCCCCGCCCACAAGCCCAGGGGAGGTACCGTGTTGCTGGACACAGTTTGCCTGGATTTTTCTCACCGATGCTCTTATGTTTCCAGGTACTGTCTGTTCAGTTTCCCAAAAAGCTTCCACTAGAAAATGGGAATTCCCACGTCACCGTGCCCAGAACTGAGGCTAGGAAGGCAATGGTGGGGGTGCGGCTTAGAGCCCAGGGCTAGAATCTGGTCTGCCTCCTGGGGGCCTTGGACGTGTCCCTGCCCCTCGCTGGGCCTCCGTTTTCTGTCTGAACTGACCGTTGGCCCCGTTGAGGCTCCTCATAGTCCTTCCCTGACTCTGTGCCTGCTCCCCTCCCCTCTGTGCCCACAGGTGTCCTCCCTGGGCAGCGGCAGTGACCACGTCATGGACGCCATCTCCCAGTGCGAGCAGTACGCCAAGGAGCAGGGCGCCCAGGAGCGCAACGCCCCCTGGAGG
|
Task1_train_16346
|
This variant lies on Chromosome 11 and affects the gene MYO7A (myosin VIIA). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
|
Pathogenic; Usher syndrome
|
GACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTTGTGTGTGTTATAAATGTTCTCATTTATCATGATAAAAAAATGGGTAACTTCAGAATTTTCTTTGAAATTATAAACTCTCAAAACTGTTGAGCCACTGAATTAGGTAATCCCAGCCATCCTTTGGGAGAGAAGAGCAGCAGTGAGTGCCCCCTGGCGGACACTGCATCGTCATGTGTCCTGCCCTTGTCCTTGAACAGGCAGGCTGCAGTCTTAGAGTACTCAGTTTGCAGAAGAGAAGAACAAGCCCAGCAATAATTGCAGCTGGCATTTATGAGGGGTTCACTGTGCCTGGCACTGTGCTAGGTGTGTCATAAGCCTTGGCTCATTCATCTTCACAGCAATCTTGTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACGAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAGTCCTGTGTCCTCAGGCCCAGTGAATCCTCTCCTGGTGCTGAAGGAAGAGCATGGCACAGGCTGATGGGAGGGCTGCGCAGCCCTTGTGTGCAGATGGGAATGGAATTCCCTCTCAGGTTGCCACGGCATCTGATGGAGAAACTCCTCAGCAAACAGGAGTTCCTTCACACTTGCCCTGAAGCAGCTGGAGTGTGGGCGTCCCGCAGACTCACCTCGGAGGCTGGAGCCTCCTCGGCTGAGCGGGACCTGGGGCTTGGGTGATTTTGCCTCCACCCCCAGCAACGTCATGCTCAGCAGAGGGGCCCCCGCCCACAAGCCCAGGGGAGGTACCGTGTTGCTGGACACAGTTTGCCTGGATTTTTCTCACCGATGCTCTTATGTTTCCAGGTACTGTCTGTTCAGTTTCCCAAAAAGCTTCCACTAGAAAATGGGAATTCCCACGTCACCGTGCCCAGAACTGAGGCTAGGAAGGCAATGGTGGGGGTGCGGCTTAGAGCCCAGGGCTAGAATCTGGTCTGCCTCCTGGGGGCCTTGGACGTGTCCCTGCCCCTCGCTGGGCCTCCGTTTTCTGTCTGAACTGACCGTTGGCCCCGTTGAGGCTCCTCATAGTCCTTCCCTGACTCTGTGCCTGCTCCCCTCCCCTCTGTGCCCACAGGTGTCCTCCCTGGGCAGCGGCAGTGACCACGTCATGGACGCCATCTCCCAGTGCGAGCAGTACGCCAAGGAGCAGGGCGCCCAGGAGCGCAACGCCCCCTGGAGG
|
GACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTTGTGTGTGTTATAAATGTTCTCATTTATCATGATAAAAAAATGGGTAACTTCAGAATTTTCTTTGAAATTATAAACTCTCAAAACTGTTGAGCCACTGAATTAGGTAATCCCAGCCATCCTTTGGGAGAGAAGAGCAGCAGTGAGTGCCCCCTGGCGGACACTGCATCGTCATGTGTCCTGCCCTTGTCCTTGAACAGGCAGGCTGCAGTCTTAGAGTACTCAGTTTGCAGAAGAGAAGAACAAGCCCAGCAATAATTGCAGCTGGCATTTATGAGGGGTTCACTGTGCCTGGCACTGTGCTAGGTGTGTCATAAGCCTTGGCTCATTCATCTTCACAGCAATCTTGTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACGAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACAGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAGTCCTGTGTCCTCAGGCCCAGTGAATCCTCTCCTGGTGCTGAAGGAAGAGCATGGCACAGGCTGATGGGAGGGCTGCGCAGCCCTTGTGTGCAGATGGGAATGGAATTCCCTCTCAGGTTGCCACGGCATCTGATGGAGAAACTCCTCAGCAAACAGGAGTTCCTTCACACTTGCCCTGAAGCAGCTGGAGTGTGGGCGTCCCGCAGACTCACCTCGGAGGCTGGAGCCTCCTCGGCTGAGCGGGACCTGGGGCTTGGGTGATTTTGCCTCCACCCCCAGCAACGTCATGCTCAGCAGAGGGGCCCCCGCCCACAAGCCCAGGGGAGGTACCGTGTTGCTGGACACAGTTTGCCTGGATTTTTCTCACCGATGCTCTTATGTTTCCAGGTACTGTCTGTTCAGTTTCCCAAAAAGCTTCCACTAGAAAATGGGAATTCCCACGTCACCGTGCCCAGAACTGAGGCTAGGAAGGCAATGGTGGGGGTGCGGCTTAGAGCCCAGGGCTAGAATCTGGTCTGCCTCCTGGGGGCCTTGGACGTGTCCCTGCCCCTCGCTGGGCCTCCGTTTTCTGTCTGAACTGACCGTTGGCCCCGTTGAGGCTCCTCATAGTCCTTCCCTGACTCTGTGCCTGCTCCCCTCCCCTCTGTGCCCACAGGTGTCCTCCCTGGGCAGCGGCAGTGACCACGTCATGGACGCCATCTCCCAGTGCGAGCAGTACGCCAAGGAGCAGGGCGCCCAGGAGCGCAACGCCCCCTGGAGG
|
Task1_train_16347
|
This mutation occurs in MYO7A (myosin VIIA) on Chromosome 11. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; Usher syndrome type 1
|
GACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTTGTGTGTGTTATAAATGTTCTCATTTATCATGATAAAAAAATGGGTAACTTCAGAATTTTCTTTGAAATTATAAACTCTCAAAACTGTTGAGCCACTGAATTAGGTAATCCCAGCCATCCTTTGGGAGAGAAGAGCAGCAGTGAGTGCCCCCTGGCGGACACTGCATCGTCATGTGTCCTGCCCTTGTCCTTGAACAGGCAGGCTGCAGTCTTAGAGTACTCAGTTTGCAGAAGAGAAGAACAAGCCCAGCAATAATTGCAGCTGGCATTTATGAGGGGTTCACTGTGCCTGGCACTGTGCTAGGTGTGTCATAAGCCTTGGCTCATTCATCTTCACAGCAATCTTGTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACGAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAGTCCTGTGTCCTCAGGCCCAGTGAATCCTCTCCTGGTGCTGAAGGAAGAGCATGGCACAGGCTGATGGGAGGGCTGCGCAGCCCTTGTGTGCAGATGGGAATGGAATTCCCTCTCAGGTTGCCACGGCATCTGATGGAGAAACTCCTCAGCAAACAGGAGTTCCTTCACACTTGCCCTGAAGCAGCTGGAGTGTGGGCGTCCCGCAGACTCACCTCGGAGGCTGGAGCCTCCTCGGCTGAGCGGGACCTGGGGCTTGGGTGATTTTGCCTCCACCCCCAGCAACGTCATGCTCAGCAGAGGGGCCCCCGCCCACAAGCCCAGGGGAGGTACCGTGTTGCTGGACACAGTTTGCCTGGATTTTTCTCACCGATGCTCTTATGTTTCCAGGTACTGTCTGTTCAGTTTCCCAAAAAGCTTCCACTAGAAAATGGGAATTCCCACGTCACCGTGCCCAGAACTGAGGCTAGGAAGGCAATGGTGGGGGTGCGGCTTAGAGCCCAGGGCTAGAATCTGGTCTGCCTCCTGGGGGCCTTGGACGTGTCCCTGCCCCTCGCTGGGCCTCCGTTTTCTGTCTGAACTGACCGTTGGCCCCGTTGAGGCTCCTCATAGTCCTTCCCTGACTCTGTGCCTGCTCCCCTCCCCTCTGTGCCCACAGGTGTCCTCCCTGGGCAGCGGCAGTGACCACGTCATGGACGCCATCTCCCAGTGCGAGCAGTACGCCAAGGAGCAGGGCGCCCAGGAGCGCAACGCCCCCTGGAGG
|
GACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTTGTGTGTGTTATAAATGTTCTCATTTATCATGATAAAAAAATGGGTAACTTCAGAATTTTCTTTGAAATTATAAACTCTCAAAACTGTTGAGCCACTGAATTAGGTAATCCCAGCCATCCTTTGGGAGAGAAGAGCAGCAGTGAGTGCCCCCTGGCGGACACTGCATCGTCATGTGTCCTGCCCTTGTCCTTGAACAGGCAGGCTGCAGTCTTAGAGTACTCAGTTTGCAGAAGAGAAGAACAAGCCCAGCAATAATTGCAGCTGGCATTTATGAGGGGTTCACTGTGCCTGGCACTGTGCTAGGTGTGTCATAAGCCTTGGCTCATTCATCTTCACAGCAATCTTGTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACGAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACAGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAGTCCTGTGTCCTCAGGCCCAGTGAATCCTCTCCTGGTGCTGAAGGAAGAGCATGGCACAGGCTGATGGGAGGGCTGCGCAGCCCTTGTGTGCAGATGGGAATGGAATTCCCTCTCAGGTTGCCACGGCATCTGATGGAGAAACTCCTCAGCAAACAGGAGTTCCTTCACACTTGCCCTGAAGCAGCTGGAGTGTGGGCGTCCCGCAGACTCACCTCGGAGGCTGGAGCCTCCTCGGCTGAGCGGGACCTGGGGCTTGGGTGATTTTGCCTCCACCCCCAGCAACGTCATGCTCAGCAGAGGGGCCCCCGCCCACAAGCCCAGGGGAGGTACCGTGTTGCTGGACACAGTTTGCCTGGATTTTTCTCACCGATGCTCTTATGTTTCCAGGTACTGTCTGTTCAGTTTCCCAAAAAGCTTCCACTAGAAAATGGGAATTCCCACGTCACCGTGCCCAGAACTGAGGCTAGGAAGGCAATGGTGGGGGTGCGGCTTAGAGCCCAGGGCTAGAATCTGGTCTGCCTCCTGGGGGCCTTGGACGTGTCCCTGCCCCTCGCTGGGCCTCCGTTTTCTGTCTGAACTGACCGTTGGCCCCGTTGAGGCTCCTCATAGTCCTTCCCTGACTCTGTGCCTGCTCCCCTCCCCTCTGTGCCCACAGGTGTCCTCCCTGGGCAGCGGCAGTGACCACGTCATGGACGCCATCTCCCAGTGCGAGCAGTACGCCAAGGAGCAGGGCGCCCAGGAGCGCAACGCCCCCTGGAGG
|
Task1_train_16348
|
The gene MYO7A (myosin VIIA) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
|
Pathogenic; Retinal dystrophy
|
GACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTTGTGTGTGTTATAAATGTTCTCATTTATCATGATAAAAAAATGGGTAACTTCAGAATTTTCTTTGAAATTATAAACTCTCAAAACTGTTGAGCCACTGAATTAGGTAATCCCAGCCATCCTTTGGGAGAGAAGAGCAGCAGTGAGTGCCCCCTGGCGGACACTGCATCGTCATGTGTCCTGCCCTTGTCCTTGAACAGGCAGGCTGCAGTCTTAGAGTACTCAGTTTGCAGAAGAGAAGAACAAGCCCAGCAATAATTGCAGCTGGCATTTATGAGGGGTTCACTGTGCCTGGCACTGTGCTAGGTGTGTCATAAGCCTTGGCTCATTCATCTTCACAGCAATCTTGTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACGAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAGTCCTGTGTCCTCAGGCCCAGTGAATCCTCTCCTGGTGCTGAAGGAAGAGCATGGCACAGGCTGATGGGAGGGCTGCGCAGCCCTTGTGTGCAGATGGGAATGGAATTCCCTCTCAGGTTGCCACGGCATCTGATGGAGAAACTCCTCAGCAAACAGGAGTTCCTTCACACTTGCCCTGAAGCAGCTGGAGTGTGGGCGTCCCGCAGACTCACCTCGGAGGCTGGAGCCTCCTCGGCTGAGCGGGACCTGGGGCTTGGGTGATTTTGCCTCCACCCCCAGCAACGTCATGCTCAGCAGAGGGGCCCCCGCCCACAAGCCCAGGGGAGGTACCGTGTTGCTGGACACAGTTTGCCTGGATTTTTCTCACCGATGCTCTTATGTTTCCAGGTACTGTCTGTTCAGTTTCCCAAAAAGCTTCCACTAGAAAATGGGAATTCCCACGTCACCGTGCCCAGAACTGAGGCTAGGAAGGCAATGGTGGGGGTGCGGCTTAGAGCCCAGGGCTAGAATCTGGTCTGCCTCCTGGGGGCCTTGGACGTGTCCCTGCCCCTCGCTGGGCCTCCGTTTTCTGTCTGAACTGACCGTTGGCCCCGTTGAGGCTCCTCATAGTCCTTCCCTGACTCTGTGCCTGCTCCCCTCCCCTCTGTGCCCACAGGTGTCCTCCCTGGGCAGCGGCAGTGACCACGTCATGGACGCCATCTCCCAGTGCGAGCAGTACGCCAAGGAGCAGGGCGCCCAGGAGCGCAACGCCCCCTGGAGG
|
GACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTTGTGTGTGTTATAAATGTTCTCATTTATCATGATAAAAAAATGGGTAACTTCAGAATTTTCTTTGAAATTATAAACTCTCAAAACTGTTGAGCCACTGAATTAGGTAATCCCAGCCATCCTTTGGGAGAGAAGAGCAGCAGTGAGTGCCCCCTGGCGGACACTGCATCGTCATGTGTCCTGCCCTTGTCCTTGAACAGGCAGGCTGCAGTCTTAGAGTACTCAGTTTGCAGAAGAGAAGAACAAGCCCAGCAATAATTGCAGCTGGCATTTATGAGGGGTTCACTGTGCCTGGCACTGTGCTAGGTGTGTCATAAGCCTTGGCTCATTCATCTTCACAGCAATCTTGTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACGAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACAGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAGTCCTGTGTCCTCAGGCCCAGTGAATCCTCTCCTGGTGCTGAAGGAAGAGCATGGCACAGGCTGATGGGAGGGCTGCGCAGCCCTTGTGTGCAGATGGGAATGGAATTCCCTCTCAGGTTGCCACGGCATCTGATGGAGAAACTCCTCAGCAAACAGGAGTTCCTTCACACTTGCCCTGAAGCAGCTGGAGTGTGGGCGTCCCGCAGACTCACCTCGGAGGCTGGAGCCTCCTCGGCTGAGCGGGACCTGGGGCTTGGGTGATTTTGCCTCCACCCCCAGCAACGTCATGCTCAGCAGAGGGGCCCCCGCCCACAAGCCCAGGGGAGGTACCGTGTTGCTGGACACAGTTTGCCTGGATTTTTCTCACCGATGCTCTTATGTTTCCAGGTACTGTCTGTTCAGTTTCCCAAAAAGCTTCCACTAGAAAATGGGAATTCCCACGTCACCGTGCCCAGAACTGAGGCTAGGAAGGCAATGGTGGGGGTGCGGCTTAGAGCCCAGGGCTAGAATCTGGTCTGCCTCCTGGGGGCCTTGGACGTGTCCCTGCCCCTCGCTGGGCCTCCGTTTTCTGTCTGAACTGACCGTTGGCCCCGTTGAGGCTCCTCATAGTCCTTCCCTGACTCTGTGCCTGCTCCCCTCCCCTCTGTGCCCACAGGTGTCCTCCCTGGGCAGCGGCAGTGACCACGTCATGGACGCCATCTCCCAGTGCGAGCAGTACGCCAAGGAGCAGGGCGCCCAGGAGCGCAACGCCCCCTGGAGG
|
Task1_train_16349
|
A variant found in Chromosome 11 affects MYO7A (myosin VIIA). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
|
Pathogenic; Inborn genetic diseases
|
GACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTTGTGTGTGTTATAAATGTTCTCATTTATCATGATAAAAAAATGGGTAACTTCAGAATTTTCTTTGAAATTATAAACTCTCAAAACTGTTGAGCCACTGAATTAGGTAATCCCAGCCATCCTTTGGGAGAGAAGAGCAGCAGTGAGTGCCCCCTGGCGGACACTGCATCGTCATGTGTCCTGCCCTTGTCCTTGAACAGGCAGGCTGCAGTCTTAGAGTACTCAGTTTGCAGAAGAGAAGAACAAGCCCAGCAATAATTGCAGCTGGCATTTATGAGGGGTTCACTGTGCCTGGCACTGTGCTAGGTGTGTCATAAGCCTTGGCTCATTCATCTTCACAGCAATCTTGTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACGAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAGTCCTGTGTCCTCAGGCCCAGTGAATCCTCTCCTGGTGCTGAAGGAAGAGCATGGCACAGGCTGATGGGAGGGCTGCGCAGCCCTTGTGTGCAGATGGGAATGGAATTCCCTCTCAGGTTGCCACGGCATCTGATGGAGAAACTCCTCAGCAAACAGGAGTTCCTTCACACTTGCCCTGAAGCAGCTGGAGTGTGGGCGTCCCGCAGACTCACCTCGGAGGCTGGAGCCTCCTCGGCTGAGCGGGACCTGGGGCTTGGGTGATTTTGCCTCCACCCCCAGCAACGTCATGCTCAGCAGAGGGGCCCCCGCCCACAAGCCCAGGGGAGGTACCGTGTTGCTGGACACAGTTTGCCTGGATTTTTCTCACCGATGCTCTTATGTTTCCAGGTACTGTCTGTTCAGTTTCCCAAAAAGCTTCCACTAGAAAATGGGAATTCCCACGTCACCGTGCCCAGAACTGAGGCTAGGAAGGCAATGGTGGGGGTGCGGCTTAGAGCCCAGGGCTAGAATCTGGTCTGCCTCCTGGGGGCCTTGGACGTGTCCCTGCCCCTCGCTGGGCCTCCGTTTTCTGTCTGAACTGACCGTTGGCCCCGTTGAGGCTCCTCATAGTCCTTCCCTGACTCTGTGCCTGCTCCCCTCCCCTCTGTGCCCACAGGTGTCCTCCCTGGGCAGCGGCAGTGACCACGTCATGGACGCCATCTCCCAGTGCGAGCAGTACGCCAAGGAGCAGGGCGCCCAGGAGCGCAACGCCCCCTGGAGG
|
GACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTTGTGTGTGTTATAAATGTTCTCATTTATCATGATAAAAAAATGGGTAACTTCAGAATTTTCTTTGAAATTATAAACTCTCAAAACTGTTGAGCCACTGAATTAGGTAATCCCAGCCATCCTTTGGGAGAGAAGAGCAGCAGTGAGTGCCCCCTGGCGGACACTGCATCGTCATGTGTCCTGCCCTTGTCCTTGAACAGGCAGGCTGCAGTCTTAGAGTACTCAGTTTGCAGAAGAGAAGAACAAGCCCAGCAATAATTGCAGCTGGCATTTATGAGGGGTTCACTGTGCCTGGCACTGTGCTAGGTGTGTCATAAGCCTTGGCTCATTCATCTTCACAGCAATCTTGTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACGAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACAGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAGTCCTGTGTCCTCAGGCCCAGTGAATCCTCTCCTGGTGCTGAAGGAAGAGCATGGCACAGGCTGATGGGAGGGCTGCGCAGCCCTTGTGTGCAGATGGGAATGGAATTCCCTCTCAGGTTGCCACGGCATCTGATGGAGAAACTCCTCAGCAAACAGGAGTTCCTTCACACTTGCCCTGAAGCAGCTGGAGTGTGGGCGTCCCGCAGACTCACCTCGGAGGCTGGAGCCTCCTCGGCTGAGCGGGACCTGGGGCTTGGGTGATTTTGCCTCCACCCCCAGCAACGTCATGCTCAGCAGAGGGGCCCCCGCCCACAAGCCCAGGGGAGGTACCGTGTTGCTGGACACAGTTTGCCTGGATTTTTCTCACCGATGCTCTTATGTTTCCAGGTACTGTCTGTTCAGTTTCCCAAAAAGCTTCCACTAGAAAATGGGAATTCCCACGTCACCGTGCCCAGAACTGAGGCTAGGAAGGCAATGGTGGGGGTGCGGCTTAGAGCCCAGGGCTAGAATCTGGTCTGCCTCCTGGGGGCCTTGGACGTGTCCCTGCCCCTCGCTGGGCCTCCGTTTTCTGTCTGAACTGACCGTTGGCCCCGTTGAGGCTCCTCATAGTCCTTCCCTGACTCTGTGCCTGCTCCCCTCCCCTCTGTGCCCACAGGTGTCCTCCCTGGGCAGCGGCAGTGACCACGTCATGGACGCCATCTCCCAGTGCGAGCAGTACGCCAAGGAGCAGGGCGCCCAGGAGCGCAACGCCCCCTGGAGG
|
Task1_train_16350
|
Gene MYO7A (myosin VIIA) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
|
Pathogenic; Autosomal recessive nonsyndromic hearing loss 2
|
GACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTTGTGTGTGTTATAAATGTTCTCATTTATCATGATAAAAAAATGGGTAACTTCAGAATTTTCTTTGAAATTATAAACTCTCAAAACTGTTGAGCCACTGAATTAGGTAATCCCAGCCATCCTTTGGGAGAGAAGAGCAGCAGTGAGTGCCCCCTGGCGGACACTGCATCGTCATGTGTCCTGCCCTTGTCCTTGAACAGGCAGGCTGCAGTCTTAGAGTACTCAGTTTGCAGAAGAGAAGAACAAGCCCAGCAATAATTGCAGCTGGCATTTATGAGGGGTTCACTGTGCCTGGCACTGTGCTAGGTGTGTCATAAGCCTTGGCTCATTCATCTTCACAGCAATCTTGTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACGAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAGTCCTGTGTCCTCAGGCCCAGTGAATCCTCTCCTGGTGCTGAAGGAAGAGCATGGCACAGGCTGATGGGAGGGCTGCGCAGCCCTTGTGTGCAGATGGGAATGGAATTCCCTCTCAGGTTGCCACGGCATCTGATGGAGAAACTCCTCAGCAAACAGGAGTTCCTTCACACTTGCCCTGAAGCAGCTGGAGTGTGGGCGTCCCGCAGACTCACCTCGGAGGCTGGAGCCTCCTCGGCTGAGCGGGACCTGGGGCTTGGGTGATTTTGCCTCCACCCCCAGCAACGTCATGCTCAGCAGAGGGGCCCCCGCCCACAAGCCCAGGGGAGGTACCGTGTTGCTGGACACAGTTTGCCTGGATTTTTCTCACCGATGCTCTTATGTTTCCAGGTACTGTCTGTTCAGTTTCCCAAAAAGCTTCCACTAGAAAATGGGAATTCCCACGTCACCGTGCCCAGAACTGAGGCTAGGAAGGCAATGGTGGGGGTGCGGCTTAGAGCCCAGGGCTAGAATCTGGTCTGCCTCCTGGGGGCCTTGGACGTGTCCCTGCCCCTCGCTGGGCCTCCGTTTTCTGTCTGAACTGACCGTTGGCCCCGTTGAGGCTCCTCATAGTCCTTCCCTGACTCTGTGCCTGCTCCCCTCCCCTCTGTGCCCACAGGTGTCCTCCCTGGGCAGCGGCAGTGACCACGTCATGGACGCCATCTCCCAGTGCGAGCAGTACGCCAAGGAGCAGGGCGCCCAGGAGCGCAACGCCCCCTGGAGG
|
GACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTTGTGTGTGTTATAAATGTTCTCATTTATCATGATAAAAAAATGGGTAACTTCAGAATTTTCTTTGAAATTATAAACTCTCAAAACTGTTGAGCCACTGAATTAGGTAATCCCAGCCATCCTTTGGGAGAGAAGAGCAGCAGTGAGTGCCCCCTGGCGGACACTGCATCGTCATGTGTCCTGCCCTTGTCCTTGAACAGGCAGGCTGCAGTCTTAGAGTACTCAGTTTGCAGAAGAGAAGAACAAGCCCAGCAATAATTGCAGCTGGCATTTATGAGGGGTTCACTGTGCCTGGCACTGTGCTAGGTGTGTCATAAGCCTTGGCTCATTCATCTTCACAGCAATCTTGTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACGAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACAGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAGTCCTGTGTCCTCAGGCCCAGTGAATCCTCTCCTGGTGCTGAAGGAAGAGCATGGCACAGGCTGATGGGAGGGCTGCGCAGCCCTTGTGTGCAGATGGGAATGGAATTCCCTCTCAGGTTGCCACGGCATCTGATGGAGAAACTCCTCAGCAAACAGGAGTTCCTTCACACTTGCCCTGAAGCAGCTGGAGTGTGGGCGTCCCGCAGACTCACCTCGGAGGCTGGAGCCTCCTCGGCTGAGCGGGACCTGGGGCTTGGGTGATTTTGCCTCCACCCCCAGCAACGTCATGCTCAGCAGAGGGGCCCCCGCCCACAAGCCCAGGGGAGGTACCGTGTTGCTGGACACAGTTTGCCTGGATTTTTCTCACCGATGCTCTTATGTTTCCAGGTACTGTCTGTTCAGTTTCCCAAAAAGCTTCCACTAGAAAATGGGAATTCCCACGTCACCGTGCCCAGAACTGAGGCTAGGAAGGCAATGGTGGGGGTGCGGCTTAGAGCCCAGGGCTAGAATCTGGTCTGCCTCCTGGGGGCCTTGGACGTGTCCCTGCCCCTCGCTGGGCCTCCGTTTTCTGTCTGAACTGACCGTTGGCCCCGTTGAGGCTCCTCATAGTCCTTCCCTGACTCTGTGCCTGCTCCCCTCCCCTCTGTGCCCACAGGTGTCCTCCCTGGGCAGCGGCAGTGACCACGTCATGGACGCCATCTCCCAGTGCGAGCAGTACGCCAAGGAGCAGGGCGCCCAGGAGCGCAACGCCCCCTGGAGG
|
Task1_train_16351
|
This alteration occurs within gene MYO7A (myosin VIIA) located on Chromosome 11. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Usher syndrome type 1
|
GACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTTGTGTGTGTTATAAATGTTCTCATTTATCATGATAAAAAAATGGGTAACTTCAGAATTTTCTTTGAAATTATAAACTCTCAAAACTGTTGAGCCACTGAATTAGGTAATCCCAGCCATCCTTTGGGAGAGAAGAGCAGCAGTGAGTGCCCCCTGGCGGACACTGCATCGTCATGTGTCCTGCCCTTGTCCTTGAACAGGCAGGCTGCAGTCTTAGAGTACTCAGTTTGCAGAAGAGAAGAACAAGCCCAGCAATAATTGCAGCTGGCATTTATGAGGGGTTCACTGTGCCTGGCACTGTGCTAGGTGTGTCATAAGCCTTGGCTCATTCATCTTCACAGCAATCTTGTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACGAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAGTCCTGTGTCCTCAGGCCCAGTGAATCCTCTCCTGGTGCTGAAGGAAGAGCATGGCACAGGCTGATGGGAGGGCTGCGCAGCCCTTGTGTGCAGATGGGAATGGAATTCCCTCTCAGGTTGCCACGGCATCTGATGGAGAAACTCCTCAGCAAACAGGAGTTCCTTCACACTTGCCCTGAAGCAGCTGGAGTGTGGGCGTCCCGCAGACTCACCTCGGAGGCTGGAGCCTCCTCGGCTGAGCGGGACCTGGGGCTTGGGTGATTTTGCCTCCACCCCCAGCAACGTCATGCTCAGCAGAGGGGCCCCCGCCCACAAGCCCAGGGGAGGTACCGTGTTGCTGGACACAGTTTGCCTGGATTTTTCTCACCGATGCTCTTATGTTTCCAGGTACTGTCTGTTCAGTTTCCCAAAAAGCTTCCACTAGAAAATGGGAATTCCCACGTCACCGTGCCCAGAACTGAGGCTAGGAAGGCAATGGTGGGGGTGCGGCTTAGAGCCCAGGGCTAGAATCTGGTCTGCCTCCTGGGGGCCTTGGACGTGTCCCTGCCCCTCGCTGGGCCTCCGTTTTCTGTCTGAACTGACCGTTGGCCCCGTTGAGGCTCCTCATAGTCCTTCCCTGACTCTGTGCCTGCTCCCCTCCCCTCTGTGCCCACAGGTGTCCTCCCTGGGCAGCGGCAGTGACCACGTCATGGACGCCATCTCCCAGTGCGAGCAGTACGCCAAGGAGCAGGGCGCCCAGGAGCGCAACGCCCCCTGGAGG
|
GACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTTGTGTGTGTTATAAATGTTCTCATTTATCATGATAAAAAAATGGGTAACTTCAGAATTTTCTTTGAAATTATAAACTCTCAAAACTGTTGAGCCACTGAATTAGGTAATCCCAGCCATCCTTTGGGAGAGAAGAGCAGCAGTGAGTGCCCCCTGGCGGACACTGCATCGTCATGTGTCCTGCCCTTGTCCTTGAACAGGCAGGCTGCAGTCTTAGAGTACTCAGTTTGCAGAAGAGAAGAACAAGCCCAGCAATAATTGCAGCTGGCATTTATGAGGGGTTCACTGTGCCTGGCACTGTGCTAGGTGTGTCATAAGCCTTGGCTCATTCATCTTCACAGCAATCTTGTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACGAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACAGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAGTCCTGTGTCCTCAGGCCCAGTGAATCCTCTCCTGGTGCTGAAGGAAGAGCATGGCACAGGCTGATGGGAGGGCTGCGCAGCCCTTGTGTGCAGATGGGAATGGAATTCCCTCTCAGGTTGCCACGGCATCTGATGGAGAAACTCCTCAGCAAACAGGAGTTCCTTCACACTTGCCCTGAAGCAGCTGGAGTGTGGGCGTCCCGCAGACTCACCTCGGAGGCTGGAGCCTCCTCGGCTGAGCGGGACCTGGGGCTTGGGTGATTTTGCCTCCACCCCCAGCAACGTCATGCTCAGCAGAGGGGCCCCCGCCCACAAGCCCAGGGGAGGTACCGTGTTGCTGGACACAGTTTGCCTGGATTTTTCTCACCGATGCTCTTATGTTTCCAGGTACTGTCTGTTCAGTTTCCCAAAAAGCTTCCACTAGAAAATGGGAATTCCCACGTCACCGTGCCCAGAACTGAGGCTAGGAAGGCAATGGTGGGGGTGCGGCTTAGAGCCCAGGGCTAGAATCTGGTCTGCCTCCTGGGGGCCTTGGACGTGTCCCTGCCCCTCGCTGGGCCTCCGTTTTCTGTCTGAACTGACCGTTGGCCCCGTTGAGGCTCCTCATAGTCCTTCCCTGACTCTGTGCCTGCTCCCCTCCCCTCTGTGCCCACAGGTGTCCTCCCTGGGCAGCGGCAGTGACCACGTCATGGACGCCATCTCCCAGTGCGAGCAGTACGCCAAGGAGCAGGGCGCCCAGGAGCGCAACGCCCCCTGGAGG
|
Task1_train_16352
|
This alteration occurs within gene MYO7A (myosin VIIA) located on Chromosome 11. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Autosomal dominant nonsyndromic hearing loss 11
|
GACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTTGTGTGTGTTATAAATGTTCTCATTTATCATGATAAAAAAATGGGTAACTTCAGAATTTTCTTTGAAATTATAAACTCTCAAAACTGTTGAGCCACTGAATTAGGTAATCCCAGCCATCCTTTGGGAGAGAAGAGCAGCAGTGAGTGCCCCCTGGCGGACACTGCATCGTCATGTGTCCTGCCCTTGTCCTTGAACAGGCAGGCTGCAGTCTTAGAGTACTCAGTTTGCAGAAGAGAAGAACAAGCCCAGCAATAATTGCAGCTGGCATTTATGAGGGGTTCACTGTGCCTGGCACTGTGCTAGGTGTGTCATAAGCCTTGGCTCATTCATCTTCACAGCAATCTTGTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACGAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAGTCCTGTGTCCTCAGGCCCAGTGAATCCTCTCCTGGTGCTGAAGGAAGAGCATGGCACAGGCTGATGGGAGGGCTGCGCAGCCCTTGTGTGCAGATGGGAATGGAATTCCCTCTCAGGTTGCCACGGCATCTGATGGAGAAACTCCTCAGCAAACAGGAGTTCCTTCACACTTGCCCTGAAGCAGCTGGAGTGTGGGCGTCCCGCAGACTCACCTCGGAGGCTGGAGCCTCCTCGGCTGAGCGGGACCTGGGGCTTGGGTGATTTTGCCTCCACCCCCAGCAACGTCATGCTCAGCAGAGGGGCCCCCGCCCACAAGCCCAGGGGAGGTACCGTGTTGCTGGACACAGTTTGCCTGGATTTTTCTCACCGATGCTCTTATGTTTCCAGGTACTGTCTGTTCAGTTTCCCAAAAAGCTTCCACTAGAAAATGGGAATTCCCACGTCACCGTGCCCAGAACTGAGGCTAGGAAGGCAATGGTGGGGGTGCGGCTTAGAGCCCAGGGCTAGAATCTGGTCTGCCTCCTGGGGGCCTTGGACGTGTCCCTGCCCCTCGCTGGGCCTCCGTTTTCTGTCTGAACTGACCGTTGGCCCCGTTGAGGCTCCTCATAGTCCTTCCCTGACTCTGTGCCTGCTCCCCTCCCCTCTGTGCCCACAGGTGTCCTCCCTGGGCAGCGGCAGTGACCACGTCATGGACGCCATCTCCCAGTGCGAGCAGTACGCCAAGGAGCAGGGCGCCCAGGAGCGCAACGCCCCCTGGAGG
|
GACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTTGTGTGTGTTATAAATGTTCTCATTTATCATGATAAAAAAATGGGTAACTTCAGAATTTTCTTTGAAATTATAAACTCTCAAAACTGTTGAGCCACTGAATTAGGTAATCCCAGCCATCCTTTGGGAGAGAAGAGCAGCAGTGAGTGCCCCCTGGCGGACACTGCATCGTCATGTGTCCTGCCCTTGTCCTTGAACAGGCAGGCTGCAGTCTTAGAGTACTCAGTTTGCAGAAGAGAAGAACAAGCCCAGCAATAATTGCAGCTGGCATTTATGAGGGGTTCACTGTGCCTGGCACTGTGCTAGGTGTGTCATAAGCCTTGGCTCATTCATCTTCACAGCAATCTTGTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACGAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACAGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAGTCCTGTGTCCTCAGGCCCAGTGAATCCTCTCCTGGTGCTGAAGGAAGAGCATGGCACAGGCTGATGGGAGGGCTGCGCAGCCCTTGTGTGCAGATGGGAATGGAATTCCCTCTCAGGTTGCCACGGCATCTGATGGAGAAACTCCTCAGCAAACAGGAGTTCCTTCACACTTGCCCTGAAGCAGCTGGAGTGTGGGCGTCCCGCAGACTCACCTCGGAGGCTGGAGCCTCCTCGGCTGAGCGGGACCTGGGGCTTGGGTGATTTTGCCTCCACCCCCAGCAACGTCATGCTCAGCAGAGGGGCCCCCGCCCACAAGCCCAGGGGAGGTACCGTGTTGCTGGACACAGTTTGCCTGGATTTTTCTCACCGATGCTCTTATGTTTCCAGGTACTGTCTGTTCAGTTTCCCAAAAAGCTTCCACTAGAAAATGGGAATTCCCACGTCACCGTGCCCAGAACTGAGGCTAGGAAGGCAATGGTGGGGGTGCGGCTTAGAGCCCAGGGCTAGAATCTGGTCTGCCTCCTGGGGGCCTTGGACGTGTCCCTGCCCCTCGCTGGGCCTCCGTTTTCTGTCTGAACTGACCGTTGGCCCCGTTGAGGCTCCTCATAGTCCTTCCCTGACTCTGTGCCTGCTCCCCTCCCCTCTGTGCCCACAGGTGTCCTCCCTGGGCAGCGGCAGTGACCACGTCATGGACGCCATCTCCCAGTGCGAGCAGTACGCCAAGGAGCAGGGCGCCCAGGAGCGCAACGCCCCCTGGAGG
|
Task1_train_16353
|
This variant affects gene MYO7A (myosin VIIA) located on Chromosome 11. Evaluate its biological effect and specify any disease association.
|
Pathogenic; not provided
|
GACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAGTCCTGTGTCCTCAGGCCCAGTGAATCCTCTCCTGGTGCTGAAGGAAGAGCATGGCACAGGCTGATGGGAGGGCTGCGCAGCCCTTGTGTGCAGATGGGAATGGAATTCCCTCTCAGGTTGCCACGGCATCTGATGGAGAAACTCCTCAGCAAACAGGAGTTCCTTCACACTTGCCCTGAAGCAGCTGGAGTGTGGGCGTCCCGCAGACTCACCTCGGAGGCTGGAGCCTCCTCGGCTGAGCGGGACCTGGGGCTTGGGTGATTTTGCCTCCACCCCCAGCAACGTCATGCTCAGCAGAGGGGCCCCCGCCCACAAGCCCAGGGGAGGTACCGTGTTGCTGGACACAGTTTGCCTGGATTTTTCTCACCGATGCTCTTATGTTTCCAGGTACTGTCTGTTCAGTTTCCCAAAAAGCTTCCACTAGAAAATGGGAATTCCCACGTCACCGTGCCCAGAACTGAGGCTAGGAAGGCAATGGTGGGGGTGCGGCTTAGAGCCCAGGGCTAGAATCTGGTCTGCCTCCTGGGGGCCTTGGACGTGTCCCTGCCCCTCGCTGGGCCTCCGTTTTCTGTCTGAACTGACCGTTGGCCCCGTTGAGGCTCCTCATAGTCCTTCCCTGACTCTGTGCCTGCTCCCCTCCCCTCTGTGCCCACAGGTGTCCTCCCTGGGCAGCGGCAGTGACCACGTCATGGACGCCATCTCCCAGTGCGAGCAGTACGCCAAGGAGCAGGGCGCCCAGGAGCGCAACGCCCCCTGGAGGCTCTTCTTCCGCAAAGAGGTCTTCACGCCCTGGCACAGCCCCTCCGAGGACAACGTGGCCACCAACCTCATCTACCAGCAGGTGGTGCGAGGAGTCAAGTTTGGGGAGTACAGGTGTGAGAAGGTGAGTGGGAGGGAATCTTCCGCCAGGCTGGCTTGGCTCACAGCCTCCTGCTTTCCACGTTTGGGCTGAGTGCTCCTCTGTGAGCCATCATTAGCTCAGGCTGGGGTGAGCCTGACTGCAACCAGGCACTCTTCAGGCTCCTGGATGGACACCGCCTACTTCAGGGGGCTCGTGAGGAGAGGCGAGATGGCGGGAGCAAGGGCTTCTGAGGATGTCCTGAATTCCACCAGTGGAGGAGGCCCCCACACTGCTGTAGTGACTGTGCGTGCTACAGAGGACGTGCCGCAGGACCTGCTGCACCATTCTGAGTATATCTAGTAAGCGCTGCATTAAATGAGAAATACAGCCATTCCTTGAGATCAGAATTTGCAAATGTGTATTCTTTTTTCTCCTTCTGAGGACAGGAGTTATGTGGTTGTTTTGTTTTCGATAATGGTAATGGTAGCTATGGTTCTGTTGGTGATTGTGATGGAGGGATGAGAAAGGAGGTGGTGGAAATGAAGAGGATAGTTGGTGGTAGTAACGTTGGTGGAGGTAGTGATGATGGTTGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGTAATGATGATGGTGGTGATGGTGGAGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGGTAGTGATGGTGTTGTTTGTGATGGTGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTTGTGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGCGATGGTGTTGTTGGTGATGGTGGAGGTGGTGATGGTGTTGGTGATGGTGGAGGTAGTTGTTTGTGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGCGATGCTGTTGGTGATCGTGGAGGTAGCGATGGTGTTGGTGATGGTGGAGGTAGTGATGTTAGTGATGAGGTATTGTTGGTACTGATGACTATGGTAATATTGGAGGTAGGGATGATGTTAGTGATGGTGGTGGTGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGTGGTGATGACAGTGTTGTGGGTAGTGATGATAGTGGTGATGGTAAAGGTAGTGATGGTGGTGTTGACAATGACAGTGTTGTTGGTAATGATGGTGATGGTGGAGGCAGTGATGGTGTTGGTGATGACAGTGTTGTTGGTAGTGATAATGATGGTGATGGTGGAGGCATAGTGTTGGTAGTGATGATGGTGGTGATGGTGGAGGCAGTAATGATGTTGGTGATAGTGTTGGCAGTGATGGTGGTGATGGTGGAGGTAGTGGTGGTAGTTTTGTTGGTGATAGTGGTGATGATAATGGTGGTATTGGTGGTAAGCAAATATTCAGGCGGAGTGCATTAGTATAGCCACATCAGTTGCTAAAATTCTGAAATATTTCAAACTGGTTGGAAAATATCTATTGCCTCCAAGGCCCCCAAGAGCCTTTCTCTATGCCCTTGCTGCTGGAGCCCTGGGGAGCTCTAGGTAGGCATCACTGGGGCTGCTGTGCACCAGGCCAGGCAGAGAAGGGGCAAATGCCCAGTGGCCACTTGGCTCTCTGAACCCTCTGCAGTAGATCCTGCCAGCTGTTAACCACTTTAACTGTCCCCCAAGTGCTTAACGGTGGTAATGGTGATGGAGGCAGTCACAGTGATGCACTTCCCTCACTCTGACCCTGCCAGCAGACCCTAGGTGTCTCCCATTCTCCAGGGCAGACACTTCCTCTTCTGCTGTTTGTCAGCTCTGGTCGCTGTCTCACAGGGCTGAGTGTGCAGTGGCTGCTCGATGGGCTGGCTTGTTTCTTTGCATCACTTCATGTGCCCCTGGGCAGAGTCCAGCTCCATGCCAGTGCCAGAGGGATCCAGGAGAAGGTGAGGGTGTGGCCCTGCCCTTGGGGAGCTCATGGTTCCTCTGAGCAGACAAGAATTCCCTGG
|
GACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAGTCCTGTGTCCTCAGGCCCAGTGAATCCTCTCCTGGTGCTGAAGGAAGAGCATGGCACAGGCTGATGGGAGGGCTGCGCAGCCCTTGTGTGCAGATGGGAATGGAATTCCCTCTCAGGTTGCCACGGCATCTGATGGAGAAACTCCTCAGCAAACAGGAGTTCCTTCACACTTGCCCTGAAGCAGCTGGAGTGTGGGCGTCCCGCAGACTCACCTCGGAGGCTGGAGCCTCCTCGGCTGAGCGGGACCTGGGGCTTGGGTGATTTTGCCTCCACCCCCAGCAACGTCATGCTCAGCAGAGGGGCCCCCGCCCACAAGCCCAGGGGAGGTACCGTGTTGCTGGACACAGTTTGCCTGGATTTTTCTCACCGATGCTCTTATGTTTCCAGGTACTGTCTGTTCAGTTTCCCAAAAAGCTTCCACTAGAAAATGGGAATTCCCACGTCACCGTGCCCAGAACTGAGGCTAGGAAGGCAATGGTGGGGGTGCGGCTTAGAGCCCAGGGCTAGAATCTGGTCTGCCTCCTGGGGGCCTTGGACGTGTCCCTGCCCCTCGCTGGGCCTCCGTTTTCTGTCTGAACTGACCGTTGGCCCCGTTGAGGCTCCTCATAGTCCTTCCCTGACTCTGTGCCTGCTCCCCTCCCCTCTGTGCCCACAGGTGTCCTCCCTGGGCAGCGGCAGTGACCACGTCATGGACGCCATCTCCCAGTGCGAGCAGTACGCCAAGGAGCAGGGCGCCCAGGAGCGCAACGCCCCCTGGAGGCCCTTCTTCCGCAAAGAGGTCTTCACGCCCTGGCACAGCCCCTCCGAGGACAACGTGGCCACCAACCTCATCTACCAGCAGGTGGTGCGAGGAGTCAAGTTTGGGGAGTACAGGTGTGAGAAGGTGAGTGGGAGGGAATCTTCCGCCAGGCTGGCTTGGCTCACAGCCTCCTGCTTTCCACGTTTGGGCTGAGTGCTCCTCTGTGAGCCATCATTAGCTCAGGCTGGGGTGAGCCTGACTGCAACCAGGCACTCTTCAGGCTCCTGGATGGACACCGCCTACTTCAGGGGGCTCGTGAGGAGAGGCGAGATGGCGGGAGCAAGGGCTTCTGAGGATGTCCTGAATTCCACCAGTGGAGGAGGCCCCCACACTGCTGTAGTGACTGTGCGTGCTACAGAGGACGTGCCGCAGGACCTGCTGCACCATTCTGAGTATATCTAGTAAGCGCTGCATTAAATGAGAAATACAGCCATTCCTTGAGATCAGAATTTGCAAATGTGTATTCTTTTTTCTCCTTCTGAGGACAGGAGTTATGTGGTTGTTTTGTTTTCGATAATGGTAATGGTAGCTATGGTTCTGTTGGTGATTGTGATGGAGGGATGAGAAAGGAGGTGGTGGAAATGAAGAGGATAGTTGGTGGTAGTAACGTTGGTGGAGGTAGTGATGATGGTTGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGTAATGATGATGGTGGTGATGGTGGAGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGGTAGTGATGGTGTTGTTTGTGATGGTGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTTGTGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGCGATGGTGTTGTTGGTGATGGTGGAGGTGGTGATGGTGTTGGTGATGGTGGAGGTAGTTGTTTGTGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGCGATGCTGTTGGTGATCGTGGAGGTAGCGATGGTGTTGGTGATGGTGGAGGTAGTGATGTTAGTGATGAGGTATTGTTGGTACTGATGACTATGGTAATATTGGAGGTAGGGATGATGTTAGTGATGGTGGTGGTGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGTGGTGATGACAGTGTTGTGGGTAGTGATGATAGTGGTGATGGTAAAGGTAGTGATGGTGGTGTTGACAATGACAGTGTTGTTGGTAATGATGGTGATGGTGGAGGCAGTGATGGTGTTGGTGATGACAGTGTTGTTGGTAGTGATAATGATGGTGATGGTGGAGGCATAGTGTTGGTAGTGATGATGGTGGTGATGGTGGAGGCAGTAATGATGTTGGTGATAGTGTTGGCAGTGATGGTGGTGATGGTGGAGGTAGTGGTGGTAGTTTTGTTGGTGATAGTGGTGATGATAATGGTGGTATTGGTGGTAAGCAAATATTCAGGCGGAGTGCATTAGTATAGCCACATCAGTTGCTAAAATTCTGAAATATTTCAAACTGGTTGGAAAATATCTATTGCCTCCAAGGCCCCCAAGAGCCTTTCTCTATGCCCTTGCTGCTGGAGCCCTGGGGAGCTCTAGGTAGGCATCACTGGGGCTGCTGTGCACCAGGCCAGGCAGAGAAGGGGCAAATGCCCAGTGGCCACTTGGCTCTCTGAACCCTCTGCAGTAGATCCTGCCAGCTGTTAACCACTTTAACTGTCCCCCAAGTGCTTAACGGTGGTAATGGTGATGGAGGCAGTCACAGTGATGCACTTCCCTCACTCTGACCCTGCCAGCAGACCCTAGGTGTCTCCCATTCTCCAGGGCAGACACTTCCTCTTCTGCTGTTTGTCAGCTCTGGTCGCTGTCTCACAGGGCTGAGTGTGCAGTGGCTGCTCGATGGGCTGGCTTGTTTCTTTGCATCACTTCATGTGCCCCTGGGCAGAGTCCAGCTCCATGCCAGTGCCAGAGGGATCCAGGAGAAGGTGAGGGTGTGGCCCTGCCCTTGGGGAGCTCATGGTTCCTCTGAGCAGACAAGAATTCCCTGG
|
Task1_train_16354
|
This variant affects gene MYO7A (myosin VIIA) located on Chromosome 11. Evaluate its biological effect and specify any disease association.
|
Pathogenic; Usher syndrome
|
GGGCATGACTGACTCAACTGGCCTTGATCTCCTTCAGGGAGTGCCGTGTCTGGCTCTCACTGGGCTGCTCTGATCTTGGCTGTGCTGCGCCTCACTCAGGCTGGGCAGGACTGACCCCGGCGGGGCCCTGTTCTCCGTGTTGGTCCTGCAGGGGAGCGAAAACGACGGCCCCCAGCTTCACGCTGGCCACCATCAAGGGGGACGAATACACCTTCACCTCCAGCAATGCTGAGGACATTCGTGACCTGGTGGTCACCTTCCTAGAGGGGCTCCGGAAGAGATCTAAGTATGTTGTGGCCCTGCAGGATAACCCCAACCCCGGTGAGTGGCTGCTGGTATGGACTGCCTGGCACTGGGGGTCAGGGTGTTATGCAGACTGTCTTAGTCCATTTGTGTTGCTATAATGGAACACTGGAGGCTGGGAGATTTATGAAGAAAAGAGGTTTATTTGGCTCACAGTTCTGCAGGCACTACAAGAAGCATGGTGCTGGCTGGGCACGGTGGCTTATGCCTGCAATCCCAGAGCTTTGGGAGGCTGAGATGGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCTCGTCTCTACAAAAGGTTAAATAAATTAGCTGGGTGTGGTGGCATGTGCCTGTAGTCATAGCTCTTCAGGAGGCTGAGGTAGAAGGATTACTTGAGTCCAGGAGGTGGAGGCTGCAGTGAGCCATGATTGTGCCACTGCAGTCCAGCCTGGACAAGAGTGAGACCTCCTCTCTTAAAAAAAAAAAAGAAAAGAAACAAAGAGAAAAAAGATGGCACCAGCATCTGCTTCTGATGAAGGCCCCAGGAAGCTTCCACTCATGGCAGAAGGAGAAGGGGTGCCTGCATCAGAAGGAAGGAAGAGAGCAGGGGGTGCCAGGCTCTTTTTAAACAATCAGTTCTCACAGAGACTATATAGAGTGAGAACTCACTCATTACCGTGAGCACGGCACCACACTGTTCATGAGGGACCCACTCCCATGACCCAAACACCTCACACTAGGCCACTGCCAACACTGGGAGATCAAGTTTCAACAGAGAGATTTGGAGGGGACAAATATCTAAACCATATCACAGACCATGCCCCGTGGCCTTGGCCTTGGCACTCAAGGCTGCTAGGATCTTGTTCCCATCTTTCCCCTGAAGCTAGACCAAATAGCAGAAGCCTGTGCCTTTAATCTGTAGCCTGTGGGGAACCTCTTCTCCCTCCCTTCTTCTGGCTCTTCAATACTCATCTCCTGTCAGCTCTCCAAGTTAGATCAGGGTCCTCCTCAGTGTTCCCAAAAGACCCACCATCTTCAAGTGATAACAGCAGTAACAACTACTCTGCCTGAGGCTACCGAGGCCCTGGCCAAGTGTGGGAAAGACAAAGATGAAATGGACCCCACCCTGTCCTCAGTGGGGAGGGGGGTGGGAAGAAGACAGTGACAGGCCTGTGACAGTGCAGTGAGCAGGGAAGCCCAGAGCCACAGGAGCCCAGAGGAGAGGCCCCATGCCGACTGGGGTCCAGGGAGGAAGCCCGTGTGACCAGAGCACAGGGGGCAGAGAGCTAAGCGTGATGCCAGCACAGAGGCGGGAGAAAGCTGGCCTGTCCAGGGAACTGCGAACAGCTTGGTTTGGCTGGGAACAGGCACAGTGAGGGAGGAGAGGCGAGGTGGAAGGAGTCTGGGAGGCCCGCTCACAACAGGCCCAGGAGTGTGGGGCTTCCTCCCAAGGGCAATGAGGAGCCGTGGAAGGCTTTTGAGCAGGAGAGTAGCCCACTCTGGTGATGGTCTCTGTATGGAGAGTTGTGACAAGGTGGAGGCAGAGTGGCAAGTGGGCAGACATGAGTGATAACACCTCAGTTCTTCTGTGGGAAGATGTTCCAACTCAGCCTGTCTCTGCCCCCATGGTCCCACTCACCTCTGCTCTACAGCAGGCGAGGAGTCAGGCTTCCTCAGCTTTGCCAAGGGAGACCTCATCATCCTGGACCATGACACGGGCGAGCAGGTCATGAACTCGGGCTGGGCCAACGGCATCAATGAGAGGACCAAGCAGCGTGGGGACTTCCCCACCGACAGTGTGTACGTCATGCCCACTGTCACCATGCCACCGCGGGAGATTGTGGTATGTGGCCTGGGGGTGGCAGATGGGTGGGAGGTGCCATTAGACCCCTCTTTGTCCACTTCCCACAGCTGTACAATAGGTTAACGGTCTAGTGCATCTGTGAAGATGATCTTGGGATCTTATGGGACACACATTTAAAGTTGGGGCAGTGCTCAAACCTGTGCCAGGTGGGGAGGGGCCTAGAAATGGCATCAGATGAGGAACTGCCAAGGGGTGGGGCCGGGGGTGGGGATTGGAGAGAGGTGTATCACCCGCACTGTCTGAACAGGCAGTGGGGGCACAGCTGGGAAGGGGGCCCTGCTTCTTCTGGAGCCCCCTTGAGAGCAGCTCTGAGGACTCACAGCCCAGCTTCCCTAGTGGCTCCTGAGCCAGGCTCAGTGGACGAGGCAGCTCTCATACCATGTCCCGCTGCCTTGTCCAGGCTTTCTGACTGACCCAACCTGATCAGACACCTGGGGAAGGGCCCTGAGCTCAGCACAAAGGAGGCAGCAGGGACCTCAGAGACCCCAAGGAGGAACGGGGCTCCCAGGGTCAGAATGGGGCATGGGGTCCATACCCCTGAAGAGTCTCCCAGAGTCCAGAAGGCTTCAGGGTATACCATGTTGATCCTGGTGGCCACAGGTAGAGAGCTGACCTGAGCCCCCTGTCTCTTGGTCCCTAGGCCCTGGTCACCATGACTCCCGATCAGAGGCAGGACGTTGTCCGGCTCTTGCAGCTGCGAACGGCGGAGCCCGAGGTGCGTGCCAAGCCCTACACGCTGGAGGAGTTTTCCTATGACTACTTCAGGTGATGCCTCCTGGGGAAGGATGGGAGCCACAGGGCTAGGAGCTGCAGGCTTCCGCTACTGTCTGGTCGTGTGCTGGGGCTGCTTTGTGAAGCCCCCACCTGTGAGCAGGGCCTGGGTCAGAGGGAGCTGGAGGGCTGTTTCTGTCTGCCAGGATGACCCGTCCTATGTGTCTCATCTTATCTTCCTTCCTTCAAGAGATGTCACTGCACCCACCCCAGGCTGGGCATTCGAGACTGAGTCCTGGTGGGGATGCGGGCTGGAAGCAGGCAGCTGGGATTCGGCGTGCCCAGCACTGTGATGAGGATGCTTCTGGGGCGGGGGGTGGGGGGCAGTGAGAAGCTTCCTGATGGAGGCGTTGTGCACTGAGCTCTACAGGGGGCGCAGGGTGGTGGGGGAGGCTGGGGCACAGCCCGTGGTGTTCTCGCCGCTGGGGTTTCACAGCTGAGAAAGAAAGGCCCAGTGACTGCCAGTGACTCGCCTCGGGTCACATGCAGGGCAGGGAAGAGCAGGGCCTGGTGCCCACTCTCAGCCTCTGGACACAGGGATGGGTGGGGGTGGGGGTCTCACAACCTGGGGGTTTCTCCCCGGGGCTGCCAGCGATGGGGCGTTGCTGACGGTCCCTGTGCTGCGGCAGGCCCCCACCCAAGCACACGCTGAGCCGTGTCATGGTGTCCAAGGCCCGAGGCAAGGACCGGCTGTGGAGCCACACGCGGGAACCGCTCAAGCAGGCGCTGCTCAAGAAGCTCCTGGGCAGTGAGGAGCTCTCGCAGGAGGCCTGCCTGGCCTTCATTGATATCCGTGCCACTGGGCTGTGCCCAGGGGAGCCAGGGACCGGGCAGGGCCTTCGTCTGCACACTGCCTTCCTCCTGAGGGCCTGCTGCGACCCGGGCACACATGGGGAGGGTTGATGGAGTACCCCCTCCCTTGCACCTTTTGATATGCAAGGGGCTGCCTCGCCCACTGTTTTCTCTGACCCTGTCATTTGGGTGCCAGGTGGATTTGGTGCCTTGTGCTGGGCCAGGCATGCAGGTAGAGCAGGGACCAGCCCAGCCCCTGGCCTCATGGGACCATACACACATCCAGATCAATGTTGAGATGGGACCCGGCAGCACTGTGACCTGACCCATGTGACCTGGAGGGGGCAGAGAGGACTTCCTGGAGGAAGTGG
|
GGGCATGACTGACTCAACTGGCCTTGATCTCCTTCAGGGAGTGCCGTGTCTGGCTCTCACTGGGCTGCTCTGATCTTGGCTGTGCTGCGCCTCACTCAGGCTGGGCAGGACTGACCCCGGCGGGGCCCTGTTCTCCGTGTTGGTCCTGCAGGGGAGCGAAAACGACGGCCCCCAGCTTCACGCTGGCCACCATCAAGGGGGACGAATACACCTTCACCTCCAGCAATGCTGAGGACATTCGTGACCTGGTGGTCACCTTCCTAGAGGGGCTCCGGAAGAGATCTAAGTATGTTGTGGCCCTGCAGGATAACCCCAACCCCGGTGAGTGGCTGCTGGTATGGACTGCCTGGCACTGGGGGTCAGGGTGTTATGCAGACTGTCTTAGTCCATTTGTGTTGCTATAATGGAACACTGGAGGCTGGGAGATTTATGAAGAAAAGAGGTTTATTTGGCTCACAGTTCTGCAGGCACTACAAGAAGCATGGTGCTGGCTGGGCACGGTGGCTTATGCCTGCAATCCCAGAGCTTTGGGAGGCTGAGATGGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCTCGTCTCTACAAAAGGTTAAATAAATTAGCTGGGTGTGGTGGCATGTGCCTGTAGTCATAGCTCTTCAGGAGGCTGAGGTAGAAGGATTACTTGAGTCCAGGAGGTGGAGGCTGCAGTGAGCCATGATTGTGCCACTGCAGTCCAGCCTGGACAAGAGTGAGACCTCCTCTCTTAAAAAAAAAAAAGAAAAGAAACAAAGAGAAAAAAGATGGCACCAGCATCTGCTTCTGATGAAGGCCCCAGGAAGCTTCCACTCATGGCAGAAGGAGAAGGGGTGCCTGCATCAGAAGGAAGGAAGAGAGCAGGGGGTGCCAGGCTCTTTTTAAACAATCAGTTCTCACAGAGACTATATAGAGTGAGAACTCACTCATTACCGTGAGCACGGCACCACACTGTTCATGAGGGACCCACTCCCATGACCCAAACACCTCACACTAGGCCACTGCCAACACTGGGAGATCAAGTTTCAACAGAGAGATTTGGAGGGGACAAATATCTAAACCATATCACAGACCATGCCCCGTGGCCTTGGCCTTGGCACTCAAGGCTGCTAGGATCTTGTTCCCATCTTTCCCCTGAAGCTAGACCAAATAGCAGAAGCCTGTGCCTTTAATCTGTAGCCTGTGGGGAACCTCTTCTCCCTCCCTTCTTCTGGCTCTTCAATACTCATCTCCTGTCAGCTCTCCAAGTTAGATCAGGGTCCTCCTCAGTGTTCCCAAAAGACCCACCATCTTCAAGTGATAACAGCAGTAACAACTACTCTGCCTGAGGCTACCGAGGCCCTGGCCAAGTGTGGGAAAGACAAAGATGAAATGGACCCCACCCTGTCCTCAGTGGGGAGGGGGGTGGGAAGAAGACAGTGACAGGCCTGTGACAGTGCAGTGAGCAGGGAAGCCCAGAGCCACAGGAGCCCAGAGGAGAGGCCCCATGCCGACTGGGGTCCAGGGAGGAAGCCCGTGTGACCAGAGCACAGGGGGCAGAGAGCTAAGCGTGATGCCAGCACAGAGGCGGGAGAAAGCTGGCCTGTCCAGGGAACTGCGAACAGCTTGGTTTGGCTGGGAACAGGCACAGTGAGGGAGGAGAGGCGAGGTGGAAGGAGTCTGGGAGGCCCGCTCACAACAGGCCCAGGAGTGTGGGGCTTCCTCCCAAGGGCAATGAGGAGCCGTGGAAGGCTTTTGAGCAGGAGAGTAGCCCACTCTGGTGATGGTCTCTGTATGGAGAGTTGTGACAAGGTGGAGGCAGAGTGGCAAGTGGGCAGACATGAGTGATAACACCTCAGTTCTTCTGTGGGAAGATGTTCCAACTCAGCCTGTCTCTGCCCCCATGGTCCCACTCACCTCTGCTCTACAGCAGGCGAGGAGTCAGGCTTCCTCAGCTTTGCCAAGGGAGACCTCATCATCCTGGACCATGACACGGGCGAGCAGGTCATGAACTCGGGCTGGGCCAACAGCATCAATGAGAGGACCAAGCAGCGTGGGGACTTCCCCACCGACAGTGTGTACGTCATGCCCACTGTCACCATGCCACCGCGGGAGATTGTGGTATGTGGCCTGGGGGTGGCAGATGGGTGGGAGGTGCCATTAGACCCCTCTTTGTCCACTTCCCACAGCTGTACAATAGGTTAACGGTCTAGTGCATCTGTGAAGATGATCTTGGGATCTTATGGGACACACATTTAAAGTTGGGGCAGTGCTCAAACCTGTGCCAGGTGGGGAGGGGCCTAGAAATGGCATCAGATGAGGAACTGCCAAGGGGTGGGGCCGGGGGTGGGGATTGGAGAGAGGTGTATCACCCGCACTGTCTGAACAGGCAGTGGGGGCACAGCTGGGAAGGGGGCCCTGCTTCTTCTGGAGCCCCCTTGAGAGCAGCTCTGAGGACTCACAGCCCAGCTTCCCTAGTGGCTCCTGAGCCAGGCTCAGTGGACGAGGCAGCTCTCATACCATGTCCCGCTGCCTTGTCCAGGCTTTCTGACTGACCCAACCTGATCAGACACCTGGGGAAGGGCCCTGAGCTCAGCACAAAGGAGGCAGCAGGGACCTCAGAGACCCCAAGGAGGAACGGGGCTCCCAGGGTCAGAATGGGGCATGGGGTCCATACCCCTGAAGAGTCTCCCAGAGTCCAGAAGGCTTCAGGGTATACCATGTTGATCCTGGTGGCCACAGGTAGAGAGCTGACCTGAGCCCCCTGTCTCTTGGTCCCTAGGCCCTGGTCACCATGACTCCCGATCAGAGGCAGGACGTTGTCCGGCTCTTGCAGCTGCGAACGGCGGAGCCCGAGGTGCGTGCCAAGCCCTACACGCTGGAGGAGTTTTCCTATGACTACTTCAGGTGATGCCTCCTGGGGAAGGATGGGAGCCACAGGGCTAGGAGCTGCAGGCTTCCGCTACTGTCTGGTCGTGTGCTGGGGCTGCTTTGTGAAGCCCCCACCTGTGAGCAGGGCCTGGGTCAGAGGGAGCTGGAGGGCTGTTTCTGTCTGCCAGGATGACCCGTCCTATGTGTCTCATCTTATCTTCCTTCCTTCAAGAGATGTCACTGCACCCACCCCAGGCTGGGCATTCGAGACTGAGTCCTGGTGGGGATGCGGGCTGGAAGCAGGCAGCTGGGATTCGGCGTGCCCAGCACTGTGATGAGGATGCTTCTGGGGCGGGGGGTGGGGGGCAGTGAGAAGCTTCCTGATGGAGGCGTTGTGCACTGAGCTCTACAGGGGGCGCAGGGTGGTGGGGGAGGCTGGGGCACAGCCCGTGGTGTTCTCGCCGCTGGGGTTTCACAGCTGAGAAAGAAAGGCCCAGTGACTGCCAGTGACTCGCCTCGGGTCACATGCAGGGCAGGGAAGAGCAGGGCCTGGTGCCCACTCTCAGCCTCTGGACACAGGGATGGGTGGGGGTGGGGGTCTCACAACCTGGGGGTTTCTCCCCGGGGCTGCCAGCGATGGGGCGTTGCTGACGGTCCCTGTGCTGCGGCAGGCCCCCACCCAAGCACACGCTGAGCCGTGTCATGGTGTCCAAGGCCCGAGGCAAGGACCGGCTGTGGAGCCACACGCGGGAACCGCTCAAGCAGGCGCTGCTCAAGAAGCTCCTGGGCAGTGAGGAGCTCTCGCAGGAGGCCTGCCTGGCCTTCATTGATATCCGTGCCACTGGGCTGTGCCCAGGGGAGCCAGGGACCGGGCAGGGCCTTCGTCTGCACACTGCCTTCCTCCTGAGGGCCTGCTGCGACCCGGGCACACATGGGGAGGGTTGATGGAGTACCCCCTCCCTTGCACCTTTTGATATGCAAGGGGCTGCCTCGCCCACTGTTTTCTCTGACCCTGTCATTTGGGTGCCAGGTGGATTTGGTGCCTTGTGCTGGGCCAGGCATGCAGGTAGAGCAGGGACCAGCCCAGCCCCTGGCCTCATGGGACCATACACACATCCAGATCAATGTTGAGATGGGACCCGGCAGCACTGTGACCTGACCCATGTGACCTGGAGGGGGCAGAGAGGACTTCCTGGAGGAAGTGG
|
Task1_train_16355
|
Assess the clinical impact of this variant on gene MYO7A (myosin VIIA), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable.
|
Pathogenic; Autosomal recessive nonsyndromic hearing loss 2
|
GGGCATGACTGACTCAACTGGCCTTGATCTCCTTCAGGGAGTGCCGTGTCTGGCTCTCACTGGGCTGCTCTGATCTTGGCTGTGCTGCGCCTCACTCAGGCTGGGCAGGACTGACCCCGGCGGGGCCCTGTTCTCCGTGTTGGTCCTGCAGGGGAGCGAAAACGACGGCCCCCAGCTTCACGCTGGCCACCATCAAGGGGGACGAATACACCTTCACCTCCAGCAATGCTGAGGACATTCGTGACCTGGTGGTCACCTTCCTAGAGGGGCTCCGGAAGAGATCTAAGTATGTTGTGGCCCTGCAGGATAACCCCAACCCCGGTGAGTGGCTGCTGGTATGGACTGCCTGGCACTGGGGGTCAGGGTGTTATGCAGACTGTCTTAGTCCATTTGTGTTGCTATAATGGAACACTGGAGGCTGGGAGATTTATGAAGAAAAGAGGTTTATTTGGCTCACAGTTCTGCAGGCACTACAAGAAGCATGGTGCTGGCTGGGCACGGTGGCTTATGCCTGCAATCCCAGAGCTTTGGGAGGCTGAGATGGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCTCGTCTCTACAAAAGGTTAAATAAATTAGCTGGGTGTGGTGGCATGTGCCTGTAGTCATAGCTCTTCAGGAGGCTGAGGTAGAAGGATTACTTGAGTCCAGGAGGTGGAGGCTGCAGTGAGCCATGATTGTGCCACTGCAGTCCAGCCTGGACAAGAGTGAGACCTCCTCTCTTAAAAAAAAAAAAGAAAAGAAACAAAGAGAAAAAAGATGGCACCAGCATCTGCTTCTGATGAAGGCCCCAGGAAGCTTCCACTCATGGCAGAAGGAGAAGGGGTGCCTGCATCAGAAGGAAGGAAGAGAGCAGGGGGTGCCAGGCTCTTTTTAAACAATCAGTTCTCACAGAGACTATATAGAGTGAGAACTCACTCATTACCGTGAGCACGGCACCACACTGTTCATGAGGGACCCACTCCCATGACCCAAACACCTCACACTAGGCCACTGCCAACACTGGGAGATCAAGTTTCAACAGAGAGATTTGGAGGGGACAAATATCTAAACCATATCACAGACCATGCCCCGTGGCCTTGGCCTTGGCACTCAAGGCTGCTAGGATCTTGTTCCCATCTTTCCCCTGAAGCTAGACCAAATAGCAGAAGCCTGTGCCTTTAATCTGTAGCCTGTGGGGAACCTCTTCTCCCTCCCTTCTTCTGGCTCTTCAATACTCATCTCCTGTCAGCTCTCCAAGTTAGATCAGGGTCCTCCTCAGTGTTCCCAAAAGACCCACCATCTTCAAGTGATAACAGCAGTAACAACTACTCTGCCTGAGGCTACCGAGGCCCTGGCCAAGTGTGGGAAAGACAAAGATGAAATGGACCCCACCCTGTCCTCAGTGGGGAGGGGGGTGGGAAGAAGACAGTGACAGGCCTGTGACAGTGCAGTGAGCAGGGAAGCCCAGAGCCACAGGAGCCCAGAGGAGAGGCCCCATGCCGACTGGGGTCCAGGGAGGAAGCCCGTGTGACCAGAGCACAGGGGGCAGAGAGCTAAGCGTGATGCCAGCACAGAGGCGGGAGAAAGCTGGCCTGTCCAGGGAACTGCGAACAGCTTGGTTTGGCTGGGAACAGGCACAGTGAGGGAGGAGAGGCGAGGTGGAAGGAGTCTGGGAGGCCCGCTCACAACAGGCCCAGGAGTGTGGGGCTTCCTCCCAAGGGCAATGAGGAGCCGTGGAAGGCTTTTGAGCAGGAGAGTAGCCCACTCTGGTGATGGTCTCTGTATGGAGAGTTGTGACAAGGTGGAGGCAGAGTGGCAAGTGGGCAGACATGAGTGATAACACCTCAGTTCTTCTGTGGGAAGATGTTCCAACTCAGCCTGTCTCTGCCCCCATGGTCCCACTCACCTCTGCTCTACAGCAGGCGAGGAGTCAGGCTTCCTCAGCTTTGCCAAGGGAGACCTCATCATCCTGGACCATGACACGGGCGAGCAGGTCATGAACTCGGGCTGGGCCAACGGCATCAATGAGAGGACCAAGCAGCGTGGGGACTTCCCCACCGACAGTGTGTACGTCATGCCCACTGTCACCATGCCACCGCGGGAGATTGTGGTATGTGGCCTGGGGGTGGCAGATGGGTGGGAGGTGCCATTAGACCCCTCTTTGTCCACTTCCCACAGCTGTACAATAGGTTAACGGTCTAGTGCATCTGTGAAGATGATCTTGGGATCTTATGGGACACACATTTAAAGTTGGGGCAGTGCTCAAACCTGTGCCAGGTGGGGAGGGGCCTAGAAATGGCATCAGATGAGGAACTGCCAAGGGGTGGGGCCGGGGGTGGGGATTGGAGAGAGGTGTATCACCCGCACTGTCTGAACAGGCAGTGGGGGCACAGCTGGGAAGGGGGCCCTGCTTCTTCTGGAGCCCCCTTGAGAGCAGCTCTGAGGACTCACAGCCCAGCTTCCCTAGTGGCTCCTGAGCCAGGCTCAGTGGACGAGGCAGCTCTCATACCATGTCCCGCTGCCTTGTCCAGGCTTTCTGACTGACCCAACCTGATCAGACACCTGGGGAAGGGCCCTGAGCTCAGCACAAAGGAGGCAGCAGGGACCTCAGAGACCCCAAGGAGGAACGGGGCTCCCAGGGTCAGAATGGGGCATGGGGTCCATACCCCTGAAGAGTCTCCCAGAGTCCAGAAGGCTTCAGGGTATACCATGTTGATCCTGGTGGCCACAGGTAGAGAGCTGACCTGAGCCCCCTGTCTCTTGGTCCCTAGGCCCTGGTCACCATGACTCCCGATCAGAGGCAGGACGTTGTCCGGCTCTTGCAGCTGCGAACGGCGGAGCCCGAGGTGCGTGCCAAGCCCTACACGCTGGAGGAGTTTTCCTATGACTACTTCAGGTGATGCCTCCTGGGGAAGGATGGGAGCCACAGGGCTAGGAGCTGCAGGCTTCCGCTACTGTCTGGTCGTGTGCTGGGGCTGCTTTGTGAAGCCCCCACCTGTGAGCAGGGCCTGGGTCAGAGGGAGCTGGAGGGCTGTTTCTGTCTGCCAGGATGACCCGTCCTATGTGTCTCATCTTATCTTCCTTCCTTCAAGAGATGTCACTGCACCCACCCCAGGCTGGGCATTCGAGACTGAGTCCTGGTGGGGATGCGGGCTGGAAGCAGGCAGCTGGGATTCGGCGTGCCCAGCACTGTGATGAGGATGCTTCTGGGGCGGGGGGTGGGGGGCAGTGAGAAGCTTCCTGATGGAGGCGTTGTGCACTGAGCTCTACAGGGGGCGCAGGGTGGTGGGGGAGGCTGGGGCACAGCCCGTGGTGTTCTCGCCGCTGGGGTTTCACAGCTGAGAAAGAAAGGCCCAGTGACTGCCAGTGACTCGCCTCGGGTCACATGCAGGGCAGGGAAGAGCAGGGCCTGGTGCCCACTCTCAGCCTCTGGACACAGGGATGGGTGGGGGTGGGGGTCTCACAACCTGGGGGTTTCTCCCCGGGGCTGCCAGCGATGGGGCGTTGCTGACGGTCCCTGTGCTGCGGCAGGCCCCCACCCAAGCACACGCTGAGCCGTGTCATGGTGTCCAAGGCCCGAGGCAAGGACCGGCTGTGGAGCCACACGCGGGAACCGCTCAAGCAGGCGCTGCTCAAGAAGCTCCTGGGCAGTGAGGAGCTCTCGCAGGAGGCCTGCCTGGCCTTCATTGATATCCGTGCCACTGGGCTGTGCCCAGGGGAGCCAGGGACCGGGCAGGGCCTTCGTCTGCACACTGCCTTCCTCCTGAGGGCCTGCTGCGACCCGGGCACACATGGGGAGGGTTGATGGAGTACCCCCTCCCTTGCACCTTTTGATATGCAAGGGGCTGCCTCGCCCACTGTTTTCTCTGACCCTGTCATTTGGGTGCCAGGTGGATTTGGTGCCTTGTGCTGGGCCAGGCATGCAGGTAGAGCAGGGACCAGCCCAGCCCCTGGCCTCATGGGACCATACACACATCCAGATCAATGTTGAGATGGGACCCGGCAGCACTGTGACCTGACCCATGTGACCTGGAGGGGGCAGAGAGGACTTCCTGGAGGAAGTGG
|
GGGCATGACTGACTCAACTGGCCTTGATCTCCTTCAGGGAGTGCCGTGTCTGGCTCTCACTGGGCTGCTCTGATCTTGGCTGTGCTGCGCCTCACTCAGGCTGGGCAGGACTGACCCCGGCGGGGCCCTGTTCTCCGTGTTGGTCCTGCAGGGGAGCGAAAACGACGGCCCCCAGCTTCACGCTGGCCACCATCAAGGGGGACGAATACACCTTCACCTCCAGCAATGCTGAGGACATTCGTGACCTGGTGGTCACCTTCCTAGAGGGGCTCCGGAAGAGATCTAAGTATGTTGTGGCCCTGCAGGATAACCCCAACCCCGGTGAGTGGCTGCTGGTATGGACTGCCTGGCACTGGGGGTCAGGGTGTTATGCAGACTGTCTTAGTCCATTTGTGTTGCTATAATGGAACACTGGAGGCTGGGAGATTTATGAAGAAAAGAGGTTTATTTGGCTCACAGTTCTGCAGGCACTACAAGAAGCATGGTGCTGGCTGGGCACGGTGGCTTATGCCTGCAATCCCAGAGCTTTGGGAGGCTGAGATGGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCTCGTCTCTACAAAAGGTTAAATAAATTAGCTGGGTGTGGTGGCATGTGCCTGTAGTCATAGCTCTTCAGGAGGCTGAGGTAGAAGGATTACTTGAGTCCAGGAGGTGGAGGCTGCAGTGAGCCATGATTGTGCCACTGCAGTCCAGCCTGGACAAGAGTGAGACCTCCTCTCTTAAAAAAAAAAAAGAAAAGAAACAAAGAGAAAAAAGATGGCACCAGCATCTGCTTCTGATGAAGGCCCCAGGAAGCTTCCACTCATGGCAGAAGGAGAAGGGGTGCCTGCATCAGAAGGAAGGAAGAGAGCAGGGGGTGCCAGGCTCTTTTTAAACAATCAGTTCTCACAGAGACTATATAGAGTGAGAACTCACTCATTACCGTGAGCACGGCACCACACTGTTCATGAGGGACCCACTCCCATGACCCAAACACCTCACACTAGGCCACTGCCAACACTGGGAGATCAAGTTTCAACAGAGAGATTTGGAGGGGACAAATATCTAAACCATATCACAGACCATGCCCCGTGGCCTTGGCCTTGGCACTCAAGGCTGCTAGGATCTTGTTCCCATCTTTCCCCTGAAGCTAGACCAAATAGCAGAAGCCTGTGCCTTTAATCTGTAGCCTGTGGGGAACCTCTTCTCCCTCCCTTCTTCTGGCTCTTCAATACTCATCTCCTGTCAGCTCTCCAAGTTAGATCAGGGTCCTCCTCAGTGTTCCCAAAAGACCCACCATCTTCAAGTGATAACAGCAGTAACAACTACTCTGCCTGAGGCTACCGAGGCCCTGGCCAAGTGTGGGAAAGACAAAGATGAAATGGACCCCACCCTGTCCTCAGTGGGGAGGGGGGTGGGAAGAAGACAGTGACAGGCCTGTGACAGTGCAGTGAGCAGGGAAGCCCAGAGCCACAGGAGCCCAGAGGAGAGGCCCCATGCCGACTGGGGTCCAGGGAGGAAGCCCGTGTGACCAGAGCACAGGGGGCAGAGAGCTAAGCGTGATGCCAGCACAGAGGCGGGAGAAAGCTGGCCTGTCCAGGGAACTGCGAACAGCTTGGTTTGGCTGGGAACAGGCACAGTGAGGGAGGAGAGGCGAGGTGGAAGGAGTCTGGGAGGCCCGCTCACAACAGGCCCAGGAGTGTGGGGCTTCCTCCCAAGGGCAATGAGGAGCCGTGGAAGGCTTTTGAGCAGGAGAGTAGCCCACTCTGGTGATGGTCTCTGTATGGAGAGTTGTGACAAGGTGGAGGCAGAGTGGCAAGTGGGCAGACATGAGTGATAACACCTCAGTTCTTCTGTGGGAAGATGTTCCAACTCAGCCTGTCTCTGCCCCCATGGTCCCACTCACCTCTGCTCTACAGCAGGCGAGGAGTCAGGCTTCCTCAGCTTTGCCAAGGGAGACCTCATCATCCTGGACCATGACACGGGCGAGCAGGTCATGAACTCGGGCTGGGCCAACAGCATCAATGAGAGGACCAAGCAGCGTGGGGACTTCCCCACCGACAGTGTGTACGTCATGCCCACTGTCACCATGCCACCGCGGGAGATTGTGGTATGTGGCCTGGGGGTGGCAGATGGGTGGGAGGTGCCATTAGACCCCTCTTTGTCCACTTCCCACAGCTGTACAATAGGTTAACGGTCTAGTGCATCTGTGAAGATGATCTTGGGATCTTATGGGACACACATTTAAAGTTGGGGCAGTGCTCAAACCTGTGCCAGGTGGGGAGGGGCCTAGAAATGGCATCAGATGAGGAACTGCCAAGGGGTGGGGCCGGGGGTGGGGATTGGAGAGAGGTGTATCACCCGCACTGTCTGAACAGGCAGTGGGGGCACAGCTGGGAAGGGGGCCCTGCTTCTTCTGGAGCCCCCTTGAGAGCAGCTCTGAGGACTCACAGCCCAGCTTCCCTAGTGGCTCCTGAGCCAGGCTCAGTGGACGAGGCAGCTCTCATACCATGTCCCGCTGCCTTGTCCAGGCTTTCTGACTGACCCAACCTGATCAGACACCTGGGGAAGGGCCCTGAGCTCAGCACAAAGGAGGCAGCAGGGACCTCAGAGACCCCAAGGAGGAACGGGGCTCCCAGGGTCAGAATGGGGCATGGGGTCCATACCCCTGAAGAGTCTCCCAGAGTCCAGAAGGCTTCAGGGTATACCATGTTGATCCTGGTGGCCACAGGTAGAGAGCTGACCTGAGCCCCCTGTCTCTTGGTCCCTAGGCCCTGGTCACCATGACTCCCGATCAGAGGCAGGACGTTGTCCGGCTCTTGCAGCTGCGAACGGCGGAGCCCGAGGTGCGTGCCAAGCCCTACACGCTGGAGGAGTTTTCCTATGACTACTTCAGGTGATGCCTCCTGGGGAAGGATGGGAGCCACAGGGCTAGGAGCTGCAGGCTTCCGCTACTGTCTGGTCGTGTGCTGGGGCTGCTTTGTGAAGCCCCCACCTGTGAGCAGGGCCTGGGTCAGAGGGAGCTGGAGGGCTGTTTCTGTCTGCCAGGATGACCCGTCCTATGTGTCTCATCTTATCTTCCTTCCTTCAAGAGATGTCACTGCACCCACCCCAGGCTGGGCATTCGAGACTGAGTCCTGGTGGGGATGCGGGCTGGAAGCAGGCAGCTGGGATTCGGCGTGCCCAGCACTGTGATGAGGATGCTTCTGGGGCGGGGGGTGGGGGGCAGTGAGAAGCTTCCTGATGGAGGCGTTGTGCACTGAGCTCTACAGGGGGCGCAGGGTGGTGGGGGAGGCTGGGGCACAGCCCGTGGTGTTCTCGCCGCTGGGGTTTCACAGCTGAGAAAGAAAGGCCCAGTGACTGCCAGTGACTCGCCTCGGGTCACATGCAGGGCAGGGAAGAGCAGGGCCTGGTGCCCACTCTCAGCCTCTGGACACAGGGATGGGTGGGGGTGGGGGTCTCACAACCTGGGGGTTTCTCCCCGGGGCTGCCAGCGATGGGGCGTTGCTGACGGTCCCTGTGCTGCGGCAGGCCCCCACCCAAGCACACGCTGAGCCGTGTCATGGTGTCCAAGGCCCGAGGCAAGGACCGGCTGTGGAGCCACACGCGGGAACCGCTCAAGCAGGCGCTGCTCAAGAAGCTCCTGGGCAGTGAGGAGCTCTCGCAGGAGGCCTGCCTGGCCTTCATTGATATCCGTGCCACTGGGCTGTGCCCAGGGGAGCCAGGGACCGGGCAGGGCCTTCGTCTGCACACTGCCTTCCTCCTGAGGGCCTGCTGCGACCCGGGCACACATGGGGAGGGTTGATGGAGTACCCCCTCCCTTGCACCTTTTGATATGCAAGGGGCTGCCTCGCCCACTGTTTTCTCTGACCCTGTCATTTGGGTGCCAGGTGGATTTGGTGCCTTGTGCTGGGCCAGGCATGCAGGTAGAGCAGGGACCAGCCCAGCCCCTGGCCTCATGGGACCATACACACATCCAGATCAATGTTGAGATGGGACCCGGCAGCACTGTGACCTGACCCATGTGACCTGGAGGGGGCAGAGAGGACTTCCTGGAGGAAGTGG
|
Task1_train_16356
|
A variant was discovered on Chromosome 11, affecting MYO7A (myosin VIIA). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
|
Pathogenic; Usher syndrome
|
CCAGGCATGCAGGTAGAGCAGGGACCAGCCCAGCCCCTGGCCTCATGGGACCATACACACATCCAGATCAATGTTGAGATGGGACCCGGCAGCACTGTGACCTGACCCATGTGACCTGGAGGGGGCAGAGAGGACTTCCTGGAGGAAGTGGTATCTAGGCTGAGCCCTGAAGGCTAAGTACGACTTAGCCAGGCAAAGGGGAGGGAGGGGGAGTGTTCCAGAGAGAGGGAGCAGCAGCAAGGCCCCGAGGCACACAGAGCAGGGCTGTTCCAGGGCTCCGGGGCTTCAGCACAGACAGGATGGGAAGACTGGGCTTAGGCAGGGTTCCCAAGCCCTGTGAGGAAGCTTGGGCCGTGTCCTAAGGCCAGGGTGAACCACTGGGCAGGGGGTGGCATGGTCAGATTCACCATCTGGGAAGTCCATCCCAGCTGCTGTGAGGGCTTGGGATGTGGGGCTGGTGACTGTGAGGAGGCGGAGAGAGGGTGGGGCAGATCATGCCCATTTTGTGAGTGTGCAGCCTGAGGGCCCAGGGTCACAGCTTCAGGTGATGCAGGCCCTGTGGGAAGTGGGGCCTCCGGACCCCAGGCCAGTGCTCCCTCTATTCGGCACAAGCCCTTCCTTGACAGTCCCCAGCTGTGCTCAAGTACATGGGCGACTACCCGTCCAAGAGGACACGCTCCGTCAACGAGCTCACCGACCAGATCTTTGAGGGTCCCCTGAAAGCCGAGCCCCTGAAGGACGAGGCATATGTGCAGATCCTGAAGCAGCTGACCGACAACCACATCAGGTGAGCCAGGCACAGTGGGCGGATGAGGGGCAGACCTCACCTGCTGTGACGGGCAGCTCTTACCCTCCTGAGGCAGCTGCTGGCTCTGCCTGGATGCAGTCCTTCCTCACACAGAGCCGGGAGCTGCTCATGGGCCCCCTCACATCCTAGCTTGGCCCCAACGCCCAAGGAGGGCCTAGCAGGAACTGGGAGGTGGTGGATGTCTTCCTTTGAGTCTGTCCTCTAAGGGTAACAGCCCCAGCTCCTCCTAACGTTTGGCTGGAGCCTCGTCTGGATGCCCCTTCCCTGCCTAGACCCTGCTGTCTGCCTGCAGGTCCAGCTCAGTCAAGTGTCCCCTCCCTGGTGCAGGCTGGGCCGGCTGTCAGCTGGAAGCACTGGCTGAAAACTCTCATGGGTTTGAGTGTTGGTCCCAATGCCCAAAGGGTGCCACCTTCTCCTCCCGCTGGGACAGCCCAAGACAGGAGTAGAAAGTCAGGCACAGGCTCCTCTCAGAGTCTGAGAGAAGCTCCACCCTCTCTCCTTACACCCAGCCCCCCGCCTTCCTCCCCAGCTGTGTCACCCTCTACATCTCTTCCACAAATCCATCCTCAAACTACACATCAGCTCTTTTGACAGTGCCAAACCTTTGTACATACTGTGCCCACAGCCAGGAAAACTTTTCAGCCCCTTCTCTGCATGCCGTAATTTGCTTCATCCTTCAAAGCCTAGTTCAAATGCCACCTCCTCCTAGAAGCCCTCCAAACTTCCCACTGTCAGGCCCAAGAAGCTCAGAGTGGTGGCTGAAGGAGCCTGGGGTGGGACTGGTCTAACTCGTTGCCACTCAAAGTAGAGGTGAATTAAAGAGCTTCTGCGAAAATATAAATCACACTGCTTCCTTCATGGAGAAAGTCTTGCTATGGAAACAAACAAAAAGCCTCAGCTGAAGCAGAGTGCATGGTAACCCGGTGGCTTTTCATTGTGGCATAAGCCCCTTATCTCCACGTGGACTGGTAGCAGTGTGTGGCCTGGCGCGGTGGGCCAGGCACACTTTGGGTAGCACTAGTTGCATCTGGCTGTCAGGGAGAGGGGTCTGTAGGTAGGGTGAGGGGTCCTGAGATAGGGTAAAGGTCAGGAGGGACGGTGCTGCTGTGATGAGCAGCTGAGGGGTACATGGCCCCCTCACCCGGGGGTGCACAGGTCCTGTGACTCCCGATGGCAGCTGCCCCTGCTGGAGCCCACGCCTCCTCCTGCAGGTACAGCGAGGAGCGGGGTTGGGAGCTGCTCTGGCTGTGCACGGGCCTTTTCCCACCCAGCAACATCCTCCTGCCCCACGTGCAGCGCTTCCTGCAGTCCCGAAAGCACTGCCCACTCGCCATCGACTGCCTGCAACGGCTCCAGAAAGCCCTGAGGTACAGCGGCCACCAGGGGCAGGGACAGACACTGGGGCGGGCTCCTGGCCACGCGGGGCTTGTGGGATGAGCCCCTTGGGGATGAGGACCACATAGCAGTTGGGCCCACCCCTGGGGTACCTCAACTGCCAGCTAGACGGAGGTGCGGATCCTGCAGCTGCTCAGGATGCAGCTGGAGAGTCCGGCTGCTCGGGAGTGCTCAGCCCAGAGCTCCCAGGCTATCGGGTGGGCACAGACACCTGGGCCCACTTCATACTCTCCGAGGGCACTTGTGTTCTTCACTTTGCTGGGCCTCTCCACACCCATCGTCCCATTTTACAGATGAGGAGCTCAAGGCTCTGGGAGACTCAGTGGCCGGTCACATCATAGGAAGTGGCAGGCGGGGATCAGAACTGGGGTTGTCTGCCTCCAAGTGTCCCGGTCCCCTGGTCTCCACAGTCCCACGCACATGCCCCCTGCTGCCCCTGCTGCCTTTTCAGAAACGGGTCCCGGAAGTACCCTCCGCACCTGGTGGAGGTGGAGGCCATCCAGCACAAGACCACCCAGATTTTCCACAAAGTCTACTTCCCTGATGACACTGACGAGGTGAGGGTCACCGGCTTCTAGGTCTGCAGTGCCCAGGACAGGGCCGGGCTTCCTGGGTGGACACCAAAGGTGGCCTTAAGCCTCTCCCCCATCACCTGACATTTGCCGCCTCGTCCTCCTGCCCCGTAGTGGAGTCGGGGCTCAGGACGAAGGCCATCGACTCCCCAGGTCAGGGGCCCTTGGTTCCTGATCCAACCCCTGCTTCCTGGAGCAGCTTCCTTCAGAAGGGCGCCCCTCCCTCCCTGTCTCTGAGGAGGACTTGCCTTGGAGAAAAGCGCTTCTCCCTCTGAGCTGGCTTTGCACTGGCTTTGCACCTCCCTGATGTAGGGCCCCACTGGCCCCCAGGTCCAGACCTCCCCTGTCGACTGAGCCCACTTTCCTGCAGGCAGAACCTCAACACCCCTTCCTCCCTCTCCACCTGAGGTGGTTGAGGTTCCCTCCATCCAGGTCCTGTCTGCCAAAGGTCCTGTCTGTCATGCCTGTAGTCACGCTGCCCCTCATGGTCCCCAGCCCCTGCCTGTCTCAACACAGTGTCTCATTCAGATAAGCTTTTCATTTGAAGAGTCATTTATGAAACTTGTCTGAGGCTGGAGACTCAGAAATGCCATAACAGGATTTCATTTGCAAGGACCAAAGACTTCCTCAAATCCTTTCCTGTCCCTCCAGACATCTCTCCTGCCATTAAACTTCCCCAGACGCTCAAACCCTCCCATCTGTCCGGGCTGCTTTCCCCTCCGCTTTTGGGTTTGCTTTTCCTCTACCTCAAGTCTCCTCCTTCTAATCACCCTTCCAGTCATCCTGCTGTGCTCCCTGGACCCCTCACTGTCACTCAGGCTTGTACACCCTGGCCCAGGACTCTGGACGCCAAGGCCACCTTCTGCTTGGAGAGTCGGGAGGAGGAGACCTGGGAAGACCCAGACAGGAGTAGCCCTTTCCTTTTGTTAAATGCCATGCCCAGCTCTGTGCCCACAGGAGGGTGTCTGGCACGGGAGGGGGCTCAGTATAGGAGGCATAGCCAGAGGGGCCCGGGAGGACCAGGTCCCGGGAAAGGCCCTGCAGGAGCCCAGTGCTCACTGCCCCTCCCAGGCCTTCGAAGTGGAGTCCAGCACCAAGGCCAAGGACTTCTGCCAGAACATCGCCACCAGGCTGCTCCTCAAGTCCTCAGAGGGATTCAGCCTCTTTGTCAAAATTGCAGACAAGGTGGGTCCTTTGCCACCTTCGCCAAGGTGGGAGATTTGCTGGGGCCATAGGAACTTACGGACAGCAGACGGAAGAGAGAGGAACTGGGGGAGAGAGGGGAAGAGGGCACTGGCATCTGGCCATCTTCTTCCATCCC
|
CCAGGCATGCAGGTAGAGCAGGGACCAGCCCAGCCCCTGGCCTCATGGGACCATACACACATCCAGATCAATGTTGAGATGGGACCCGGCAGCACTGTGACCTGACCCATGTGACCTGGAGGGGGCAGAGAGGACTTCCTGGAGGAAGTGGTATCTAGGCTGAGCCCTGAAGGCTAAGTACGACTTAGCCAGGCAAAGGGGAGGGAGGGGGAGTGTTCCAGAGAGAGGGAGCAGCAGCAAGGCCCCGAGGCACACAGAGCAGGGCTGTTCCAGGGCTCCGGGGCTTCAGCACAGACAGGATGGGAAGACTGGGCTTAGGCAGGGTTCCCAAGCCCTGTGAGGAAGCTTGGGCCGTGTCCTAAGGCCAGGGTGAACCACTGGGCAGGGGGTGGCATGGTCAGATTCACCATCTGGGAAGTCCATCCCAGCTGCTGTGAGGGCTTGGGATGTGGGGCTGGTGACTGTGAGGAGGCGGAGAGAGGGTGGGGCAGATCATGCCCATTTTGTGAGTGTGCAGCCTGAGGGCCCAGGGTCACAGCTTCAGGTGATGCAGGCCCTGTGGGAAGTGGGGCCTCCGGACCCCAGGCCAGTGCTCCCTCTATTCGGCACAAGCCCTTCCTTGACAGTCCCCAGCTGTGCTCAAGTACATGGGCGACTACCCGTCCAAGAGGACACGCTCCGTCAACGAGCTCACCGACCAGATCTTTGAGGGTCCCCTGAAAGCCGAGCCCCTGAAGGACGAGGCATATGTGCAGATCCTGAAGCAGCTGACCGACAACCACATCAGGTGAGCCAGGCACAGTGGGCGGATGAGGGGCAGACCTCACCTGCTGTGACGGGCAGCTCTTACCCTCCTGAGGCAGCTGCTGGCTCTGCCTGGATGCAGTCCTTCCTCACACAGAGCCGGGAGCTGCTCATGGGCCCCCTCACATCCTAGCTTGGCCCCAACGCCCAAGGAGGGCCTAGCAGGAACTGGGAGGTGGTGGATGTCTTCCTTTGAGTCTGTCCTCTAAGGGTAACAGCCCCAGCTCCTCCTAACGTTTGGCTGGAGCCTCGTCTGGATGCCCCTTCCCTGCCTAGACCCTGCTGTCTGCCTGCAGGTCCAGCTCAGTCAAGTGTCCCCTCCCTGGTGCAGGCTGGGCCGGCTGTCAGCTGGAAGCACTGGCTGAAAACTCTCATGGGTTTGAGTGTTGGTCCCAATGCCCAAAGGGTGCCACCTTCTCCTCCCGCTGGGACAGCCCAAGACAGGAGTAGAAAGTCAGGCACAGGCTCCTCTCAGAGTCTGAGAGAAGCTCCACCCTCTCTCCTTACACCCAGCCCCCCGCCTTCCTCCCCAGCTGTGTCACCCTCTACATCTCTTCCACAAATCCATCCTCAAACTACACATCAGCTCTTTTGACAGTGCCAAACCTTTGTACATACTGTGCCCACAGCCAGGAAAACTTTTCAGCCCCTTCTCTGCATGCCGTAATTTGCTTCATCCTTCAAAGCCTAGTTCAAATGCCACCTCCTCCTAGAAGCCCTCCAAACTTCCCACTGTCAGGCCCAAGAAGCTCAGAGTGGTGGCTGAAGGAGCCTGGGGTGGGACTGGTCTAACTCGTTGCCACTCAAAGTAGAGGTGAATTAAAGAGCTTCTGCGAAAATATAAATCACACTGCTTCCTTCATGGAGAAAGTCTTGCTATGGAAACAAACAAAAAGCCTCAGCTGAAGCAGAGTGCATGGTAACCCGGTGGCTTTTCATTGTGGCATAAGCCCCTTATCTCCACGTGGACTGGTAGCAGTGTGTGGCCTGGCGCGGTGGGCCAGGCACACTTTGGGTAGCACTAGTTGCATCTGGCTGTCAGGGAGAGGGGTCTGTAGGTAGGGTGAGGGGTCCTGAGATAGGGTAAAGGTCAGGAGGGACGGTGCTGCTGTGATGAGCAGCTGAGGGGTACATGGCCCCCTCACCCGGGGGTGCACAGGTCCTGTGACTCCCGATGGCAGCTGCCCCTGCTGGAGCCCACGCCTCCTCCTGCAGGTACAGCGAGGAGCGGGGTTGGGAGCTGCACTGGCTGTGCACGGGCCTTTTCCCACCCAGCAACATCCTCCTGCCCCACGTGCAGCGCTTCCTGCAGTCCCGAAAGCACTGCCCACTCGCCATCGACTGCCTGCAACGGCTCCAGAAAGCCCTGAGGTACAGCGGCCACCAGGGGCAGGGACAGACACTGGGGCGGGCTCCTGGCCACGCGGGGCTTGTGGGATGAGCCCCTTGGGGATGAGGACCACATAGCAGTTGGGCCCACCCCTGGGGTACCTCAACTGCCAGCTAGACGGAGGTGCGGATCCTGCAGCTGCTCAGGATGCAGCTGGAGAGTCCGGCTGCTCGGGAGTGCTCAGCCCAGAGCTCCCAGGCTATCGGGTGGGCACAGACACCTGGGCCCACTTCATACTCTCCGAGGGCACTTGTGTTCTTCACTTTGCTGGGCCTCTCCACACCCATCGTCCCATTTTACAGATGAGGAGCTCAAGGCTCTGGGAGACTCAGTGGCCGGTCACATCATAGGAAGTGGCAGGCGGGGATCAGAACTGGGGTTGTCTGCCTCCAAGTGTCCCGGTCCCCTGGTCTCCACAGTCCCACGCACATGCCCCCTGCTGCCCCTGCTGCCTTTTCAGAAACGGGTCCCGGAAGTACCCTCCGCACCTGGTGGAGGTGGAGGCCATCCAGCACAAGACCACCCAGATTTTCCACAAAGTCTACTTCCCTGATGACACTGACGAGGTGAGGGTCACCGGCTTCTAGGTCTGCAGTGCCCAGGACAGGGCCGGGCTTCCTGGGTGGACACCAAAGGTGGCCTTAAGCCTCTCCCCCATCACCTGACATTTGCCGCCTCGTCCTCCTGCCCCGTAGTGGAGTCGGGGCTCAGGACGAAGGCCATCGACTCCCCAGGTCAGGGGCCCTTGGTTCCTGATCCAACCCCTGCTTCCTGGAGCAGCTTCCTTCAGAAGGGCGCCCCTCCCTCCCTGTCTCTGAGGAGGACTTGCCTTGGAGAAAAGCGCTTCTCCCTCTGAGCTGGCTTTGCACTGGCTTTGCACCTCCCTGATGTAGGGCCCCACTGGCCCCCAGGTCCAGACCTCCCCTGTCGACTGAGCCCACTTTCCTGCAGGCAGAACCTCAACACCCCTTCCTCCCTCTCCACCTGAGGTGGTTGAGGTTCCCTCCATCCAGGTCCTGTCTGCCAAAGGTCCTGTCTGTCATGCCTGTAGTCACGCTGCCCCTCATGGTCCCCAGCCCCTGCCTGTCTCAACACAGTGTCTCATTCAGATAAGCTTTTCATTTGAAGAGTCATTTATGAAACTTGTCTGAGGCTGGAGACTCAGAAATGCCATAACAGGATTTCATTTGCAAGGACCAAAGACTTCCTCAAATCCTTTCCTGTCCCTCCAGACATCTCTCCTGCCATTAAACTTCCCCAGACGCTCAAACCCTCCCATCTGTCCGGGCTGCTTTCCCCTCCGCTTTTGGGTTTGCTTTTCCTCTACCTCAAGTCTCCTCCTTCTAATCACCCTTCCAGTCATCCTGCTGTGCTCCCTGGACCCCTCACTGTCACTCAGGCTTGTACACCCTGGCCCAGGACTCTGGACGCCAAGGCCACCTTCTGCTTGGAGAGTCGGGAGGAGGAGACCTGGGAAGACCCAGACAGGAGTAGCCCTTTCCTTTTGTTAAATGCCATGCCCAGCTCTGTGCCCACAGGAGGGTGTCTGGCACGGGAGGGGGCTCAGTATAGGAGGCATAGCCAGAGGGGCCCGGGAGGACCAGGTCCCGGGAAAGGCCCTGCAGGAGCCCAGTGCTCACTGCCCCTCCCAGGCCTTCGAAGTGGAGTCCAGCACCAAGGCCAAGGACTTCTGCCAGAACATCGCCACCAGGCTGCTCCTCAAGTCCTCAGAGGGATTCAGCCTCTTTGTCAAAATTGCAGACAAGGTGGGTCCTTTGCCACCTTCGCCAAGGTGGGAGATTTGCTGGGGCCATAGGAACTTACGGACAGCAGACGGAAGAGAGAGGAACTGGGGGAGAGAGGGGAAGAGGGCACTGGCATCTGGCCATCTTCTTCCATCCC
|
Task1_train_16357
|
The variant affects gene MYO7A (myosin VIIA), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
|
Pathogenic; Usher syndrome
|
ATGTGACCTGGAGGGGGCAGAGAGGACTTCCTGGAGGAAGTGGTATCTAGGCTGAGCCCTGAAGGCTAAGTACGACTTAGCCAGGCAAAGGGGAGGGAGGGGGAGTGTTCCAGAGAGAGGGAGCAGCAGCAAGGCCCCGAGGCACACAGAGCAGGGCTGTTCCAGGGCTCCGGGGCTTCAGCACAGACAGGATGGGAAGACTGGGCTTAGGCAGGGTTCCCAAGCCCTGTGAGGAAGCTTGGGCCGTGTCCTAAGGCCAGGGTGAACCACTGGGCAGGGGGTGGCATGGTCAGATTCACCATCTGGGAAGTCCATCCCAGCTGCTGTGAGGGCTTGGGATGTGGGGCTGGTGACTGTGAGGAGGCGGAGAGAGGGTGGGGCAGATCATGCCCATTTTGTGAGTGTGCAGCCTGAGGGCCCAGGGTCACAGCTTCAGGTGATGCAGGCCCTGTGGGAAGTGGGGCCTCCGGACCCCAGGCCAGTGCTCCCTCTATTCGGCACAAGCCCTTCCTTGACAGTCCCCAGCTGTGCTCAAGTACATGGGCGACTACCCGTCCAAGAGGACACGCTCCGTCAACGAGCTCACCGACCAGATCTTTGAGGGTCCCCTGAAAGCCGAGCCCCTGAAGGACGAGGCATATGTGCAGATCCTGAAGCAGCTGACCGACAACCACATCAGGTGAGCCAGGCACAGTGGGCGGATGAGGGGCAGACCTCACCTGCTGTGACGGGCAGCTCTTACCCTCCTGAGGCAGCTGCTGGCTCTGCCTGGATGCAGTCCTTCCTCACACAGAGCCGGGAGCTGCTCATGGGCCCCCTCACATCCTAGCTTGGCCCCAACGCCCAAGGAGGGCCTAGCAGGAACTGGGAGGTGGTGGATGTCTTCCTTTGAGTCTGTCCTCTAAGGGTAACAGCCCCAGCTCCTCCTAACGTTTGGCTGGAGCCTCGTCTGGATGCCCCTTCCCTGCCTAGACCCTGCTGTCTGCCTGCAGGTCCAGCTCAGTCAAGTGTCCCCTCCCTGGTGCAGGCTGGGCCGGCTGTCAGCTGGAAGCACTGGCTGAAAACTCTCATGGGTTTGAGTGTTGGTCCCAATGCCCAAAGGGTGCCACCTTCTCCTCCCGCTGGGACAGCCCAAGACAGGAGTAGAAAGTCAGGCACAGGCTCCTCTCAGAGTCTGAGAGAAGCTCCACCCTCTCTCCTTACACCCAGCCCCCCGCCTTCCTCCCCAGCTGTGTCACCCTCTACATCTCTTCCACAAATCCATCCTCAAACTACACATCAGCTCTTTTGACAGTGCCAAACCTTTGTACATACTGTGCCCACAGCCAGGAAAACTTTTCAGCCCCTTCTCTGCATGCCGTAATTTGCTTCATCCTTCAAAGCCTAGTTCAAATGCCACCTCCTCCTAGAAGCCCTCCAAACTTCCCACTGTCAGGCCCAAGAAGCTCAGAGTGGTGGCTGAAGGAGCCTGGGGTGGGACTGGTCTAACTCGTTGCCACTCAAAGTAGAGGTGAATTAAAGAGCTTCTGCGAAAATATAAATCACACTGCTTCCTTCATGGAGAAAGTCTTGCTATGGAAACAAACAAAAAGCCTCAGCTGAAGCAGAGTGCATGGTAACCCGGTGGCTTTTCATTGTGGCATAAGCCCCTTATCTCCACGTGGACTGGTAGCAGTGTGTGGCCTGGCGCGGTGGGCCAGGCACACTTTGGGTAGCACTAGTTGCATCTGGCTGTCAGGGAGAGGGGTCTGTAGGTAGGGTGAGGGGTCCTGAGATAGGGTAAAGGTCAGGAGGGACGGTGCTGCTGTGATGAGCAGCTGAGGGGTACATGGCCCCCTCACCCGGGGGTGCACAGGTCCTGTGACTCCCGATGGCAGCTGCCCCTGCTGGAGCCCACGCCTCCTCCTGCAGGTACAGCGAGGAGCGGGGTTGGGAGCTGCTCTGGCTGTGCACGGGCCTTTTCCCACCCAGCAACATCCTCCTGCCCCACGTGCAGCGCTTCCTGCAGTCCCGAAAGCACTGCCCACTCGCCATCGACTGCCTGCAACGGCTCCAGAAAGCCCTGAGGTACAGCGGCCACCAGGGGCAGGGACAGACACTGGGGCGGGCTCCTGGCCACGCGGGGCTTGTGGGATGAGCCCCTTGGGGATGAGGACCACATAGCAGTTGGGCCCACCCCTGGGGTACCTCAACTGCCAGCTAGACGGAGGTGCGGATCCTGCAGCTGCTCAGGATGCAGCTGGAGAGTCCGGCTGCTCGGGAGTGCTCAGCCCAGAGCTCCCAGGCTATCGGGTGGGCACAGACACCTGGGCCCACTTCATACTCTCCGAGGGCACTTGTGTTCTTCACTTTGCTGGGCCTCTCCACACCCATCGTCCCATTTTACAGATGAGGAGCTCAAGGCTCTGGGAGACTCAGTGGCCGGTCACATCATAGGAAGTGGCAGGCGGGGATCAGAACTGGGGTTGTCTGCCTCCAAGTGTCCCGGTCCCCTGGTCTCCACAGTCCCACGCACATGCCCCCTGCTGCCCCTGCTGCCTTTTCAGAAACGGGTCCCGGAAGTACCCTCCGCACCTGGTGGAGGTGGAGGCCATCCAGCACAAGACCACCCAGATTTTCCACAAAGTCTACTTCCCTGATGACACTGACGAGGTGAGGGTCACCGGCTTCTAGGTCTGCAGTGCCCAGGACAGGGCCGGGCTTCCTGGGTGGACACCAAAGGTGGCCTTAAGCCTCTCCCCCATCACCTGACATTTGCCGCCTCGTCCTCCTGCCCCGTAGTGGAGTCGGGGCTCAGGACGAAGGCCATCGACTCCCCAGGTCAGGGGCCCTTGGTTCCTGATCCAACCCCTGCTTCCTGGAGCAGCTTCCTTCAGAAGGGCGCCCCTCCCTCCCTGTCTCTGAGGAGGACTTGCCTTGGAGAAAAGCGCTTCTCCCTCTGAGCTGGCTTTGCACTGGCTTTGCACCTCCCTGATGTAGGGCCCCACTGGCCCCCAGGTCCAGACCTCCCCTGTCGACTGAGCCCACTTTCCTGCAGGCAGAACCTCAACACCCCTTCCTCCCTCTCCACCTGAGGTGGTTGAGGTTCCCTCCATCCAGGTCCTGTCTGCCAAAGGTCCTGTCTGTCATGCCTGTAGTCACGCTGCCCCTCATGGTCCCCAGCCCCTGCCTGTCTCAACACAGTGTCTCATTCAGATAAGCTTTTCATTTGAAGAGTCATTTATGAAACTTGTCTGAGGCTGGAGACTCAGAAATGCCATAACAGGATTTCATTTGCAAGGACCAAAGACTTCCTCAAATCCTTTCCTGTCCCTCCAGACATCTCTCCTGCCATTAAACTTCCCCAGACGCTCAAACCCTCCCATCTGTCCGGGCTGCTTTCCCCTCCGCTTTTGGGTTTGCTTTTCCTCTACCTCAAGTCTCCTCCTTCTAATCACCCTTCCAGTCATCCTGCTGTGCTCCCTGGACCCCTCACTGTCACTCAGGCTTGTACACCCTGGCCCAGGACTCTGGACGCCAAGGCCACCTTCTGCTTGGAGAGTCGGGAGGAGGAGACCTGGGAAGACCCAGACAGGAGTAGCCCTTTCCTTTTGTTAAATGCCATGCCCAGCTCTGTGCCCACAGGAGGGTGTCTGGCACGGGAGGGGGCTCAGTATAGGAGGCATAGCCAGAGGGGCCCGGGAGGACCAGGTCCCGGGAAAGGCCCTGCAGGAGCCCAGTGCTCACTGCCCCTCCCAGGCCTTCGAAGTGGAGTCCAGCACCAAGGCCAAGGACTTCTGCCAGAACATCGCCACCAGGCTGCTCCTCAAGTCCTCAGAGGGATTCAGCCTCTTTGTCAAAATTGCAGACAAGGTGGGTCCTTTGCCACCTTCGCCAAGGTGGGAGATTTGCTGGGGCCATAGGAACTTACGGACAGCAGACGGAAGAGAGAGGAACTGGGGGAGAGAGGGGAAGAGGGCACTGGCATCTGGCCATCTTCTTCCATCCCTGCAGCCTCCCCTTACATGGAGTGGCTGCCCCCAGCTCTCTCTCTTCTGAGGCACTGCACATGGCTCAAACCCTCTTAGGGGCATGTGCCCAGGTGCTCTGTGTTCTA
|
ATGTGACCTGGAGGGGGCAGAGAGGACTTCCTGGAGGAAGTGGTATCTAGGCTGAGCCCTGAAGGCTAAGTACGACTTAGCCAGGCAAAGGGGAGGGAGGGGGAGTGTTCCAGAGAGAGGGAGCAGCAGCAAGGCCCCGAGGCACACAGAGCAGGGCTGTTCCAGGGCTCCGGGGCTTCAGCACAGACAGGATGGGAAGACTGGGCTTAGGCAGGGTTCCCAAGCCCTGTGAGGAAGCTTGGGCCGTGTCCTAAGGCCAGGGTGAACCACTGGGCAGGGGGTGGCATGGTCAGATTCACCATCTGGGAAGTCCATCCCAGCTGCTGTGAGGGCTTGGGATGTGGGGCTGGTGACTGTGAGGAGGCGGAGAGAGGGTGGGGCAGATCATGCCCATTTTGTGAGTGTGCAGCCTGAGGGCCCAGGGTCACAGCTTCAGGTGATGCAGGCCCTGTGGGAAGTGGGGCCTCCGGACCCCAGGCCAGTGCTCCCTCTATTCGGCACAAGCCCTTCCTTGACAGTCCCCAGCTGTGCTCAAGTACATGGGCGACTACCCGTCCAAGAGGACACGCTCCGTCAACGAGCTCACCGACCAGATCTTTGAGGGTCCCCTGAAAGCCGAGCCCCTGAAGGACGAGGCATATGTGCAGATCCTGAAGCAGCTGACCGACAACCACATCAGGTGAGCCAGGCACAGTGGGCGGATGAGGGGCAGACCTCACCTGCTGTGACGGGCAGCTCTTACCCTCCTGAGGCAGCTGCTGGCTCTGCCTGGATGCAGTCCTTCCTCACACAGAGCCGGGAGCTGCTCATGGGCCCCCTCACATCCTAGCTTGGCCCCAACGCCCAAGGAGGGCCTAGCAGGAACTGGGAGGTGGTGGATGTCTTCCTTTGAGTCTGTCCTCTAAGGGTAACAGCCCCAGCTCCTCCTAACGTTTGGCTGGAGCCTCGTCTGGATGCCCCTTCCCTGCCTAGACCCTGCTGTCTGCCTGCAGGTCCAGCTCAGTCAAGTGTCCCCTCCCTGGTGCAGGCTGGGCCGGCTGTCAGCTGGAAGCACTGGCTGAAAACTCTCATGGGTTTGAGTGTTGGTCCCAATGCCCAAAGGGTGCCACCTTCTCCTCCCGCTGGGACAGCCCAAGACAGGAGTAGAAAGTCAGGCACAGGCTCCTCTCAGAGTCTGAGAGAAGCTCCACCCTCTCTCCTTACACCCAGCCCCCCGCCTTCCTCCCCAGCTGTGTCACCCTCTACATCTCTTCCACAAATCCATCCTCAAACTACACATCAGCTCTTTTGACAGTGCCAAACCTTTGTACATACTGTGCCCACAGCCAGGAAAACTTTTCAGCCCCTTCTCTGCATGCCGTAATTTGCTTCATCCTTCAAAGCCTAGTTCAAATGCCACCTCCTCCTAGAAGCCCTCCAAACTTCCCACTGTCAGGCCCAAGAAGCTCAGAGTGGTGGCTGAAGGAGCCTGGGGTGGGACTGGTCTAACTCGTTGCCACTCAAAGTAGAGGTGAATTAAAGAGCTTCTGCGAAAATATAAATCACACTGCTTCCTTCATGGAGAAAGTCTTGCTATGGAAACAAACAAAAAGCCTCAGCTGAAGCAGAGTGCATGGTAACCCGGTGGCTTTTCATTGTGGCATAAGCCCCTTATCTCCACGTGGACTGGTAGCAGTGTGTGGCCTGGCGCGGTGGGCCAGGCACACTTTGGGTAGCACTAGTTGCATCTGGCTGTCAGGGAGAGGGGTCTGTAGGTAGGGTGAGGGGTCCTGAGATAGGGTAAAGGTCAGGAGGGACGGTGCTGCTGTGATGAGCAGCTGAGGGGTACATGGCCCCCTCACCCGGGGGTGCACAGGTCCTGTGACTCCCGATGGCAGCTGCCCCTGCTGGAGCCCACGCCTCCTCCTGCAGGTACAGCGAGGAGCGGGGTTGGGAGCTGCTCTGGCTGTGCACGGGCCTTTTCCCACCCAGCAACATCCTCCTGCCCCACGTGCAGCGCTTCCTGCAGTCCCGAAAGCACTGCCCACTCGCCATCGACTGCCTGCAACAGCTCCAGAAAGCCCTGAGGTACAGCGGCCACCAGGGGCAGGGACAGACACTGGGGCGGGCTCCTGGCCACGCGGGGCTTGTGGGATGAGCCCCTTGGGGATGAGGACCACATAGCAGTTGGGCCCACCCCTGGGGTACCTCAACTGCCAGCTAGACGGAGGTGCGGATCCTGCAGCTGCTCAGGATGCAGCTGGAGAGTCCGGCTGCTCGGGAGTGCTCAGCCCAGAGCTCCCAGGCTATCGGGTGGGCACAGACACCTGGGCCCACTTCATACTCTCCGAGGGCACTTGTGTTCTTCACTTTGCTGGGCCTCTCCACACCCATCGTCCCATTTTACAGATGAGGAGCTCAAGGCTCTGGGAGACTCAGTGGCCGGTCACATCATAGGAAGTGGCAGGCGGGGATCAGAACTGGGGTTGTCTGCCTCCAAGTGTCCCGGTCCCCTGGTCTCCACAGTCCCACGCACATGCCCCCTGCTGCCCCTGCTGCCTTTTCAGAAACGGGTCCCGGAAGTACCCTCCGCACCTGGTGGAGGTGGAGGCCATCCAGCACAAGACCACCCAGATTTTCCACAAAGTCTACTTCCCTGATGACACTGACGAGGTGAGGGTCACCGGCTTCTAGGTCTGCAGTGCCCAGGACAGGGCCGGGCTTCCTGGGTGGACACCAAAGGTGGCCTTAAGCCTCTCCCCCATCACCTGACATTTGCCGCCTCGTCCTCCTGCCCCGTAGTGGAGTCGGGGCTCAGGACGAAGGCCATCGACTCCCCAGGTCAGGGGCCCTTGGTTCCTGATCCAACCCCTGCTTCCTGGAGCAGCTTCCTTCAGAAGGGCGCCCCTCCCTCCCTGTCTCTGAGGAGGACTTGCCTTGGAGAAAAGCGCTTCTCCCTCTGAGCTGGCTTTGCACTGGCTTTGCACCTCCCTGATGTAGGGCCCCACTGGCCCCCAGGTCCAGACCTCCCCTGTCGACTGAGCCCACTTTCCTGCAGGCAGAACCTCAACACCCCTTCCTCCCTCTCCACCTGAGGTGGTTGAGGTTCCCTCCATCCAGGTCCTGTCTGCCAAAGGTCCTGTCTGTCATGCCTGTAGTCACGCTGCCCCTCATGGTCCCCAGCCCCTGCCTGTCTCAACACAGTGTCTCATTCAGATAAGCTTTTCATTTGAAGAGTCATTTATGAAACTTGTCTGAGGCTGGAGACTCAGAAATGCCATAACAGGATTTCATTTGCAAGGACCAAAGACTTCCTCAAATCCTTTCCTGTCCCTCCAGACATCTCTCCTGCCATTAAACTTCCCCAGACGCTCAAACCCTCCCATCTGTCCGGGCTGCTTTCCCCTCCGCTTTTGGGTTTGCTTTTCCTCTACCTCAAGTCTCCTCCTTCTAATCACCCTTCCAGTCATCCTGCTGTGCTCCCTGGACCCCTCACTGTCACTCAGGCTTGTACACCCTGGCCCAGGACTCTGGACGCCAAGGCCACCTTCTGCTTGGAGAGTCGGGAGGAGGAGACCTGGGAAGACCCAGACAGGAGTAGCCCTTTCCTTTTGTTAAATGCCATGCCCAGCTCTGTGCCCACAGGAGGGTGTCTGGCACGGGAGGGGGCTCAGTATAGGAGGCATAGCCAGAGGGGCCCGGGAGGACCAGGTCCCGGGAAAGGCCCTGCAGGAGCCCAGTGCTCACTGCCCCTCCCAGGCCTTCGAAGTGGAGTCCAGCACCAAGGCCAAGGACTTCTGCCAGAACATCGCCACCAGGCTGCTCCTCAAGTCCTCAGAGGGATTCAGCCTCTTTGTCAAAATTGCAGACAAGGTGGGTCCTTTGCCACCTTCGCCAAGGTGGGAGATTTGCTGGGGCCATAGGAACTTACGGACAGCAGACGGAAGAGAGAGGAACTGGGGGAGAGAGGGGAAGAGGGCACTGGCATCTGGCCATCTTCTTCCATCCCTGCAGCCTCCCCTTACATGGAGTGGCTGCCCCCAGCTCTCTCTCTTCTGAGGCACTGCACATGGCTCAAACCCTCTTAGGGGCATGTGCCCAGGTGCTCTGTGTTCTA
|
Task1_train_16358
|
Located on Chromosome 11, this mutation impacts MYO7A (myosin VIIA). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
|
Pathogenic; Retinal dystrophy
|
GGAGAAAAGCGCTTCTCCCTCTGAGCTGGCTTTGCACTGGCTTTGCACCTCCCTGATGTAGGGCCCCACTGGCCCCCAGGTCCAGACCTCCCCTGTCGACTGAGCCCACTTTCCTGCAGGCAGAACCTCAACACCCCTTCCTCCCTCTCCACCTGAGGTGGTTGAGGTTCCCTCCATCCAGGTCCTGTCTGCCAAAGGTCCTGTCTGTCATGCCTGTAGTCACGCTGCCCCTCATGGTCCCCAGCCCCTGCCTGTCTCAACACAGTGTCTCATTCAGATAAGCTTTTCATTTGAAGAGTCATTTATGAAACTTGTCTGAGGCTGGAGACTCAGAAATGCCATAACAGGATTTCATTTGCAAGGACCAAAGACTTCCTCAAATCCTTTCCTGTCCCTCCAGACATCTCTCCTGCCATTAAACTTCCCCAGACGCTCAAACCCTCCCATCTGTCCGGGCTGCTTTCCCCTCCGCTTTTGGGTTTGCTTTTCCTCTACCTCAAGTCTCCTCCTTCTAATCACCCTTCCAGTCATCCTGCTGTGCTCCCTGGACCCCTCACTGTCACTCAGGCTTGTACACCCTGGCCCAGGACTCTGGACGCCAAGGCCACCTTCTGCTTGGAGAGTCGGGAGGAGGAGACCTGGGAAGACCCAGACAGGAGTAGCCCTTTCCTTTTGTTAAATGCCATGCCCAGCTCTGTGCCCACAGGAGGGTGTCTGGCACGGGAGGGGGCTCAGTATAGGAGGCATAGCCAGAGGGGCCCGGGAGGACCAGGTCCCGGGAAAGGCCCTGCAGGAGCCCAGTGCTCACTGCCCCTCCCAGGCCTTCGAAGTGGAGTCCAGCACCAAGGCCAAGGACTTCTGCCAGAACATCGCCACCAGGCTGCTCCTCAAGTCCTCAGAGGGATTCAGCCTCTTTGTCAAAATTGCAGACAAGGTGGGTCCTTTGCCACCTTCGCCAAGGTGGGAGATTTGCTGGGGCCATAGGAACTTACGGACAGCAGACGGAAGAGAGAGGAACTGGGGGAGAGAGGGGAAGAGGGCACTGGCATCTGGCCATCTTCTTCCATCCCTGCAGCCTCCCCTTACATGGAGTGGCTGCCCCCAGCTCTCTCTCTTCTGAGGCACTGCACATGGCTCAAACCCTCTTAGGGGCATGTGCCCAGGTGCTCTGTGTTCTAAAAACACCAGACCCTCACCCTGCCCCAACACACATGTTCTTTCCATATTTGCTTTGACTGGCCCTTAATTGCCATGCTGGGGCAAATTAACCCTTGAAAGAATGTGTGATCATCCCCACTTGATAGATCACATAACTAGGGCTCAGAGAGGTTAGGTAACTTGTCCAAGGTCACACAGCAGGGACTGAGCTCCAGGTGGGTCTGGCTCTAAAGCCCACGCCCCTGCCACCATTTCACATCACGCTCCCCCAGCACCTCTGTCCCTGGAAGTCTTCCAGGCCCAGCTAAAGACCCCTCCACGGGAAGGCCTCCCTGACCGAGTTGGGTGCCCCATCCTGTTGCCTGCTGATGGCTCTGTGTGCCTCTGTGTCTGTTTCCTCACTTCATGCCTGTCTCTGTGCCAGACGCTGGGACCCAGAGGTGACCCCAATGAGGTCCTAGACCCAGGGGAGCCCAGAGCTGCAGGAGGAGCTGGACATGGATGCCAGAGAATGTCCAAGCCAGGGGCTGGGCCGCATTCTTGGCCAGTTTCCCTTGAGTCTAAGGCAGCGTTCAGTGTCCCAGGCACTGAATGGAATGACCATCGCTCCCGGCAAGAAGTGGGCTCTTCCGGGGACACTCAGCAGGCACATGGGGCAGGGTGGGGCTGACACACAGAAACCCCTTCCGGCTGGGAGTGGAGTCTTCCCTGAGAAGGAGCAGCTGCCAGACAGGCCTTAGGTGGGAAGGTCAGAAAATGCAGTGTTGCTTAAACTGAGTGTGCTTCGATGGCCCTGACCCCAGGTCCTCAGCGTTCCTGAGAATGACTTCTTCTTTGACTTTGTTCGACACTTGACAGACTGGATAAAGAAAGCTCGGCCCATCAAGGACGGTAATGAGGCCGGGTCCTGGGATCATCTGAGGCCCAGAGCAGGGAAGTGTGGGCTCGGGGCTGTGCCGTGAGGCCCACCTAGGCGGGCCTGAGTGAGGGCCTCCTCTGGGTCTGGGCTCGGGACGTGAGCACTCCTCTGTGCAGGGACCCTCTGGGTGACCGACTGCCCTGTGCTGCAGGAATTGTGCCCTCACTCACCTACCAGGTGTTCTTCATGAAGAAGCTGTGGACCACCACGGTGCCAGGGAAGGATCCCATGGCCGATTCCATCTTCCACTATTACCAGGTGGGCACCTCTGCACTCTAGTTGCCTTCGTGCACAGCTAGCGTTGCTGTACTTTGGCCCTGAAAGCAGAGACCCACTGACCTTGCCAGGTGTGGGGCCCGTACCAGCCTGGCCTCAAAGGGATTCCTGCCAAGACCACTGGAGCCCCAAGGGATGGCCCAACCCCTGATCCTTGTATCTTCTGATTCTTCAGCCCTTAGGGGCTTGACAGTTCCTCCTCTGAGCTTCCGATCCCTACCTGTTCAGGCCCCTCCTTCAGTGCGGGGCTATCCTCTGACTTCGAGATTCTGCTGTTGTAACTGGGTAATTCCAAGGCCTCTGTGCAAACATTTTCTAGCATAGGCACCTGCAGGAAGCCGGGAGGGAAGCTTGCATGTTGAGCCTCTATTATGTGTCTGGCACTCTTCTCTCATTCTGTCCTCCCAACTAACCCCAAGAAGCAGGCATGTTGTCCCCATTTGACAGAGGGACAAAGAGACTCAGGCCGCGTGCTGTGATTAGGATCACACAGCTGATGGAACTGGGGTTTGATTCCAGGTCTTCATGACTGCAGGTTGGTGCTCTTTTCTGGGCTCAGCCTGCTTACCATTCTGTGGGAGAAAAACCATGATGCTGGGAAGGGCAGAGGAGGCAGGGACGGTGGCTGCTGTGGCAGAGAGGACACTGGCCTGGGAGTGAGAAGGACTGCCCTCATCCAAACCTGGGATCTACCTTTCCTCATGCCCCTCCCCACCCACCCCATGCTGCCCACTGAGTGCATGGCCCCTGGACTACCAGTTCCCCCAGAGTCAGCCTTGACATCTGCTCCTCCTGTCCCACGTCCCAAATCACTTACCTGATGACTGTACCTCCTGGATATCTCTAAAGTCCCCCATGTCTCTCCATCACCACCTTCCCAACCTGGGTCAGTCTACCATCATCTCTGATCCAGAATGGAGGCAGTGACCTTCTCCCTGTTCTCCTCATCCATTTTGGTCCTTTCAATCCTTTCTCCACAGGGTGGTCATCCTGCTTTCCAGATTCCCCCAGTGGATTCCCCTTGCTCGTAGGGCATAACCCCCGTCCTGGCCGTGGCCCTGCCTGGTGGTGCCACTAACTGCTCCTGCTGCCTTGCCTTGTACCTGGCTCTCCTTCAGCTCAGCTGGATTGTTTCCGCTTCTCAAGTGTGCCACAGGGCCTTTGTAATGTTGGGATGCTCTTCCCTCAGTTCCTTCCCTCACCTACTGAGCTTTTAGATGTCAGTCAGCCATTTTATCTTAAAGGAAGTCTGCCCTGTCCTCAAGCCTAGATTAGGTCACCTTGTTATATTCTCTTACAGCACTGTGGACAATTCCTTCAAAGGTTGTCATTATATATCTGTTTGGTATGATTTTTAATGTCTGTCCTTGCCCTGAGACTACAAGTTCCATGGAAGTAGGGAGGGTAGGCATTGTTGCTTAAAGGGCCTGGCTCATAGATGTTCAATGCATGCTTGTTGGATTGACAGATGGGTGAGTAGGTAAACTGGTGGCTCAATGAACATAGAGATGGGAGGATGAATGCTGAGTGAATTGATGGGTGGATATTGGTAAGTGAATTGGTGAGTTAGGTAGGTGAGTGGGTGGATGGGTGGGTAGATGGATGGACAGATAGGGAGATGGATGGAGGTAGATGTGTAGGTAGATAGACCCATAACCACATGGATGGGTGGGTAGGATGGATAATGATTGACTCAGATCTCTGACTGACAATGTATCCTCAGGCCAGCCTCAGTTTCTCTAC
|
GGAGAAAAGCGCTTCTCCCTCTGAGCTGGCTTTGCACTGGCTTTGCACCTCCCTGATGTAGGGCCCCACTGGCCCCCAGGTCCAGACCTCCCCTGTCGACTGAGCCCACTTTCCTGCAGGCAGAACCTCAACACCCCTTCCTCCCTCTCCACCTGAGGTGGTTGAGGTTCCCTCCATCCAGGTCCTGTCTGCCAAAGGTCCTGTCTGTCATGCCTGTAGTCACGCTGCCCCTCATGGTCCCCAGCCCCTGCCTGTCTCAACACAGTGTCTCATTCAGATAAGCTTTTCATTTGAAGAGTCATTTATGAAACTTGTCTGAGGCTGGAGACTCAGAAATGCCATAACAGGATTTCATTTGCAAGGACCAAAGACTTCCTCAAATCCTTTCCTGTCCCTCCAGACATCTCTCCTGCCATTAAACTTCCCCAGACGCTCAAACCCTCCCATCTGTCCGGGCTGCTTTCCCCTCCGCTTTTGGGTTTGCTTTTCCTCTACCTCAAGTCTCCTCCTTCTAATCACCCTTCCAGTCATCCTGCTGTGCTCCCTGGACCCCTCACTGTCACTCAGGCTTGTACACCCTGGCCCAGGACTCTGGACGCCAAGGCCACCTTCTGCTTGGAGAGTCGGGAGGAGGAGACCTGGGAAGACCCAGACAGGAGTAGCCCTTTCCTTTTGTTAAATGCCATGCCCAGCTCTGTGCCCACAGGAGGGTGTCTGGCACGGGAGGGGGCTCAGTATAGGAGGCATAGCCAGAGGGGCCCGGGAGGACCAGGTCCCGGGAAAGGCCCTGCAGGAGCCCAGTGCTCACTGCCCCTCCCAGGCCTTCGAAGTGGAGTCCAGCACCAAGGCCAAGGACTTCTGCCAGAACATCGCCACCAGGCTGCTCCTCAAGTCCTCAGAGGGATTCAGCCTCTTTGTCAAAATTGCAGACAAGGTGGGTCCTTTGCCACCTTCGCCAAGGTGGGAGATTTGCTGGGGCCATAGGAACTTACGGACAGCAGACGGAAGAGAGAGGAACTGGGGGAGAGAGGGGAAGAGGGCACTGGCATCTGGCCATCTTCTTCCATCCCTGCAGCCTCCCCTTACATGGAGTGGCTGCCCCCAGCTCTCTCTCTTCTGAGGCACTGCACATGGCTCAAACCCTCTTAGGGGCATGTGCCCAGGTGCTCTGTGTTCTAAAAACACCAGACCCTCACCCTGCCCCAACACACATGTTCTTTCCATATTTGCTTTGACTGGCCCTTAATTGCCATGCTGGGGCAAATTAACCCTTGAAAGAATGTGTGATCATCCCCACTTGATAGATCACATAACTAGGGCTCAGAGAGGTTAGGTAACTTGTCCAAGGTCACACAGCAGGGACTGAGCTCCAGGTGGGTCTGGCTCTAAAGCCCACGCCCCTGCCACCATTTCACATCACGCTCCCCCAGCACCTCTGTCCCTGGAAGTCTTCCAGGCCCAGCTAAAGACCCCTCCACGGGAAGGCCTCCCTGACCGAGTTGGGTGCCCCATCCTGTTGCCTGCTGATGGCTCTGTGTGCCTCTGTGTCTGTTTCCTCACTTCATGCCTGTCTCTGTGCCAGACGCTGGGACCCAGAGGTGACCCCAATGAGGTCCTAGACCCAGGGGAGCCCAGAGCTGCAGGAGGAGCTGGACATGGATGCCAGAGAATGTCCAAGCCAGGGGCTGGGCCGCATTCTTGGCCAGTTTCCCTTGAGTCTAAGGCAGCGTTCAGTGTCCCAGGCACTGAATGGAATGACCATCGCTCCCGGCAAGAAGTGGGCTCTTCCGGGGACACTCAGCAGGCACATGGGGCAGGGTGGGGCTGACACACAGAAACCCCTTCCGGCTGGGAGTGGAGTCTTCCCTGAGAAGGAGCAGCTGCCAGACAGGCCTTAGGTGGGAAGGTCAGAAAATGCAGTGTTGCTTAAACTGAGTGTGCTTCGATGGCCCTGACCCCAGGTCCTCAGCGTTCCTGAGAATGACTTCTTCTTTGACTTTGTTCGACACTTGACAGACTGGATAAAGAAAGCTCGGCCCATCAAGGACAGTAATGAGGCCGGGTCCTGGGATCATCTGAGGCCCAGAGCAGGGAAGTGTGGGCTCGGGGCTGTGCCGTGAGGCCCACCTAGGCGGGCCTGAGTGAGGGCCTCCTCTGGGTCTGGGCTCGGGACGTGAGCACTCCTCTGTGCAGGGACCCTCTGGGTGACCGACTGCCCTGTGCTGCAGGAATTGTGCCCTCACTCACCTACCAGGTGTTCTTCATGAAGAAGCTGTGGACCACCACGGTGCCAGGGAAGGATCCCATGGCCGATTCCATCTTCCACTATTACCAGGTGGGCACCTCTGCACTCTAGTTGCCTTCGTGCACAGCTAGCGTTGCTGTACTTTGGCCCTGAAAGCAGAGACCCACTGACCTTGCCAGGTGTGGGGCCCGTACCAGCCTGGCCTCAAAGGGATTCCTGCCAAGACCACTGGAGCCCCAAGGGATGGCCCAACCCCTGATCCTTGTATCTTCTGATTCTTCAGCCCTTAGGGGCTTGACAGTTCCTCCTCTGAGCTTCCGATCCCTACCTGTTCAGGCCCCTCCTTCAGTGCGGGGCTATCCTCTGACTTCGAGATTCTGCTGTTGTAACTGGGTAATTCCAAGGCCTCTGTGCAAACATTTTCTAGCATAGGCACCTGCAGGAAGCCGGGAGGGAAGCTTGCATGTTGAGCCTCTATTATGTGTCTGGCACTCTTCTCTCATTCTGTCCTCCCAACTAACCCCAAGAAGCAGGCATGTTGTCCCCATTTGACAGAGGGACAAAGAGACTCAGGCCGCGTGCTGTGATTAGGATCACACAGCTGATGGAACTGGGGTTTGATTCCAGGTCTTCATGACTGCAGGTTGGTGCTCTTTTCTGGGCTCAGCCTGCTTACCATTCTGTGGGAGAAAAACCATGATGCTGGGAAGGGCAGAGGAGGCAGGGACGGTGGCTGCTGTGGCAGAGAGGACACTGGCCTGGGAGTGAGAAGGACTGCCCTCATCCAAACCTGGGATCTACCTTTCCTCATGCCCCTCCCCACCCACCCCATGCTGCCCACTGAGTGCATGGCCCCTGGACTACCAGTTCCCCCAGAGTCAGCCTTGACATCTGCTCCTCCTGTCCCACGTCCCAAATCACTTACCTGATGACTGTACCTCCTGGATATCTCTAAAGTCCCCCATGTCTCTCCATCACCACCTTCCCAACCTGGGTCAGTCTACCATCATCTCTGATCCAGAATGGAGGCAGTGACCTTCTCCCTGTTCTCCTCATCCATTTTGGTCCTTTCAATCCTTTCTCCACAGGGTGGTCATCCTGCTTTCCAGATTCCCCCAGTGGATTCCCCTTGCTCGTAGGGCATAACCCCCGTCCTGGCCGTGGCCCTGCCTGGTGGTGCCACTAACTGCTCCTGCTGCCTTGCCTTGTACCTGGCTCTCCTTCAGCTCAGCTGGATTGTTTCCGCTTCTCAAGTGTGCCACAGGGCCTTTGTAATGTTGGGATGCTCTTCCCTCAGTTCCTTCCCTCACCTACTGAGCTTTTAGATGTCAGTCAGCCATTTTATCTTAAAGGAAGTCTGCCCTGTCCTCAAGCCTAGATTAGGTCACCTTGTTATATTCTCTTACAGCACTGTGGACAATTCCTTCAAAGGTTGTCATTATATATCTGTTTGGTATGATTTTTAATGTCTGTCCTTGCCCTGAGACTACAAGTTCCATGGAAGTAGGGAGGGTAGGCATTGTTGCTTAAAGGGCCTGGCTCATAGATGTTCAATGCATGCTTGTTGGATTGACAGATGGGTGAGTAGGTAAACTGGTGGCTCAATGAACATAGAGATGGGAGGATGAATGCTGAGTGAATTGATGGGTGGATATTGGTAAGTGAATTGGTGAGTTAGGTAGGTGAGTGGGTGGATGGGTGGGTAGATGGATGGACAGATAGGGAGATGGATGGAGGTAGATGTGTAGGTAGATAGACCCATAACCACATGGATGGGTGGGTAGGATGGATAATGATTGACTCAGATCTCTGACTGACAATGTATCCTCAGGCCAGCCTCAGTTTCTCTAC
|
Task1_train_16359
|
This genomic variant is located on Chromosome 11, within the MYO7A (myosin VIIA) gene. Can you determine its pathogenicity and name any linked disease?
|
Pathogenic; Rare genetic deafness
|
GTGTCTCATTCAGATAAGCTTTTCATTTGAAGAGTCATTTATGAAACTTGTCTGAGGCTGGAGACTCAGAAATGCCATAACAGGATTTCATTTGCAAGGACCAAAGACTTCCTCAAATCCTTTCCTGTCCCTCCAGACATCTCTCCTGCCATTAAACTTCCCCAGACGCTCAAACCCTCCCATCTGTCCGGGCTGCTTTCCCCTCCGCTTTTGGGTTTGCTTTTCCTCTACCTCAAGTCTCCTCCTTCTAATCACCCTTCCAGTCATCCTGCTGTGCTCCCTGGACCCCTCACTGTCACTCAGGCTTGTACACCCTGGCCCAGGACTCTGGACGCCAAGGCCACCTTCTGCTTGGAGAGTCGGGAGGAGGAGACCTGGGAAGACCCAGACAGGAGTAGCCCTTTCCTTTTGTTAAATGCCATGCCCAGCTCTGTGCCCACAGGAGGGTGTCTGGCACGGGAGGGGGCTCAGTATAGGAGGCATAGCCAGAGGGGCCCGGGAGGACCAGGTCCCGGGAAAGGCCCTGCAGGAGCCCAGTGCTCACTGCCCCTCCCAGGCCTTCGAAGTGGAGTCCAGCACCAAGGCCAAGGACTTCTGCCAGAACATCGCCACCAGGCTGCTCCTCAAGTCCTCAGAGGGATTCAGCCTCTTTGTCAAAATTGCAGACAAGGTGGGTCCTTTGCCACCTTCGCCAAGGTGGGAGATTTGCTGGGGCCATAGGAACTTACGGACAGCAGACGGAAGAGAGAGGAACTGGGGGAGAGAGGGGAAGAGGGCACTGGCATCTGGCCATCTTCTTCCATCCCTGCAGCCTCCCCTTACATGGAGTGGCTGCCCCCAGCTCTCTCTCTTCTGAGGCACTGCACATGGCTCAAACCCTCTTAGGGGCATGTGCCCAGGTGCTCTGTGTTCTAAAAACACCAGACCCTCACCCTGCCCCAACACACATGTTCTTTCCATATTTGCTTTGACTGGCCCTTAATTGCCATGCTGGGGCAAATTAACCCTTGAAAGAATGTGTGATCATCCCCACTTGATAGATCACATAACTAGGGCTCAGAGAGGTTAGGTAACTTGTCCAAGGTCACACAGCAGGGACTGAGCTCCAGGTGGGTCTGGCTCTAAAGCCCACGCCCCTGCCACCATTTCACATCACGCTCCCCCAGCACCTCTGTCCCTGGAAGTCTTCCAGGCCCAGCTAAAGACCCCTCCACGGGAAGGCCTCCCTGACCGAGTTGGGTGCCCCATCCTGTTGCCTGCTGATGGCTCTGTGTGCCTCTGTGTCTGTTTCCTCACTTCATGCCTGTCTCTGTGCCAGACGCTGGGACCCAGAGGTGACCCCAATGAGGTCCTAGACCCAGGGGAGCCCAGAGCTGCAGGAGGAGCTGGACATGGATGCCAGAGAATGTCCAAGCCAGGGGCTGGGCCGCATTCTTGGCCAGTTTCCCTTGAGTCTAAGGCAGCGTTCAGTGTCCCAGGCACTGAATGGAATGACCATCGCTCCCGGCAAGAAGTGGGCTCTTCCGGGGACACTCAGCAGGCACATGGGGCAGGGTGGGGCTGACACACAGAAACCCCTTCCGGCTGGGAGTGGAGTCTTCCCTGAGAAGGAGCAGCTGCCAGACAGGCCTTAGGTGGGAAGGTCAGAAAATGCAGTGTTGCTTAAACTGAGTGTGCTTCGATGGCCCTGACCCCAGGTCCTCAGCGTTCCTGAGAATGACTTCTTCTTTGACTTTGTTCGACACTTGACAGACTGGATAAAGAAAGCTCGGCCCATCAAGGACGGTAATGAGGCCGGGTCCTGGGATCATCTGAGGCCCAGAGCAGGGAAGTGTGGGCTCGGGGCTGTGCCGTGAGGCCCACCTAGGCGGGCCTGAGTGAGGGCCTCCTCTGGGTCTGGGCTCGGGACGTGAGCACTCCTCTGTGCAGGGACCCTCTGGGTGACCGACTGCCCTGTGCTGCAGGAATTGTGCCCTCACTCACCTACCAGGTGTTCTTCATGAAGAAGCTGTGGACCACCACGGTGCCAGGGAAGGATCCCATGGCCGATTCCATCTTCCACTATTACCAGGTGGGCACCTCTGCACTCTAGTTGCCTTCGTGCACAGCTAGCGTTGCTGTACTTTGGCCCTGAAAGCAGAGACCCACTGACCTTGCCAGGTGTGGGGCCCGTACCAGCCTGGCCTCAAAGGGATTCCTGCCAAGACCACTGGAGCCCCAAGGGATGGCCCAACCCCTGATCCTTGTATCTTCTGATTCTTCAGCCCTTAGGGGCTTGACAGTTCCTCCTCTGAGCTTCCGATCCCTACCTGTTCAGGCCCCTCCTTCAGTGCGGGGCTATCCTCTGACTTCGAGATTCTGCTGTTGTAACTGGGTAATTCCAAGGCCTCTGTGCAAACATTTTCTAGCATAGGCACCTGCAGGAAGCCGGGAGGGAAGCTTGCATGTTGAGCCTCTATTATGTGTCTGGCACTCTTCTCTCATTCTGTCCTCCCAACTAACCCCAAGAAGCAGGCATGTTGTCCCCATTTGACAGAGGGACAAAGAGACTCAGGCCGCGTGCTGTGATTAGGATCACACAGCTGATGGAACTGGGGTTTGATTCCAGGTCTTCATGACTGCAGGTTGGTGCTCTTTTCTGGGCTCAGCCTGCTTACCATTCTGTGGGAGAAAAACCATGATGCTGGGAAGGGCAGAGGAGGCAGGGACGGTGGCTGCTGTGGCAGAGAGGACACTGGCCTGGGAGTGAGAAGGACTGCCCTCATCCAAACCTGGGATCTACCTTTCCTCATGCCCCTCCCCACCCACCCCATGCTGCCCACTGAGTGCATGGCCCCTGGACTACCAGTTCCCCCAGAGTCAGCCTTGACATCTGCTCCTCCTGTCCCACGTCCCAAATCACTTACCTGATGACTGTACCTCCTGGATATCTCTAAAGTCCCCCATGTCTCTCCATCACCACCTTCCCAACCTGGGTCAGTCTACCATCATCTCTGATCCAGAATGGAGGCAGTGACCTTCTCCCTGTTCTCCTCATCCATTTTGGTCCTTTCAATCCTTTCTCCACAGGGTGGTCATCCTGCTTTCCAGATTCCCCCAGTGGATTCCCCTTGCTCGTAGGGCATAACCCCCGTCCTGGCCGTGGCCCTGCCTGGTGGTGCCACTAACTGCTCCTGCTGCCTTGCCTTGTACCTGGCTCTCCTTCAGCTCAGCTGGATTGTTTCCGCTTCTCAAGTGTGCCACAGGGCCTTTGTAATGTTGGGATGCTCTTCCCTCAGTTCCTTCCCTCACCTACTGAGCTTTTAGATGTCAGTCAGCCATTTTATCTTAAAGGAAGTCTGCCCTGTCCTCAAGCCTAGATTAGGTCACCTTGTTATATTCTCTTACAGCACTGTGGACAATTCCTTCAAAGGTTGTCATTATATATCTGTTTGGTATGATTTTTAATGTCTGTCCTTGCCCTGAGACTACAAGTTCCATGGAAGTAGGGAGGGTAGGCATTGTTGCTTAAAGGGCCTGGCTCATAGATGTTCAATGCATGCTTGTTGGATTGACAGATGGGTGAGTAGGTAAACTGGTGGCTCAATGAACATAGAGATGGGAGGATGAATGCTGAGTGAATTGATGGGTGGATATTGGTAAGTGAATTGGTGAGTTAGGTAGGTGAGTGGGTGGATGGGTGGGTAGATGGATGGACAGATAGGGAGATGGATGGAGGTAGATGTGTAGGTAGATAGACCCATAACCACATGGATGGGTGGGTAGGATGGATAATGATTGACTCAGATCTCTGACTGACAATGTATCCTCAGGCCAGCCTCAGTTTCTCTACCTTTCAAATTGTGTATAAGATGACCATAAGGCTCTAGGAGTCTGTGGGCAGCGCCAGCCCTTCAGAGGCTTCATCTCTGCTCTGGGCCCATTCCCCAGCCTAAGTTCCTCTGGTTTTGGGTCTGGAAGTTCAAGGGGGTGGGAGGGCCTCTGCTACTGCTAATGAAAGCAGCTGGTCTCAAGAGAACCCAATGCAAGGAGGCCAGACTGAGAGGCTCTTCCAGAGGAGGATGGGCCCAGGAGGTGAGGGGTATGGAACAGTCTC
|
GTGTCTCATTCAGATAAGCTTTTCATTTGAAGAGTCATTTATGAAACTTGTCTGAGGCTGGAGACTCAGAAATGCCATAACAGGATTTCATTTGCAAGGACCAAAGACTTCCTCAAATCCTTTCCTGTCCCTCCAGACATCTCTCCTGCCATTAAACTTCCCCAGACGCTCAAACCCTCCCATCTGTCCGGGCTGCTTTCCCCTCCGCTTTTGGGTTTGCTTTTCCTCTACCTCAAGTCTCCTCCTTCTAATCACCCTTCCAGTCATCCTGCTGTGCTCCCTGGACCCCTCACTGTCACTCAGGCTTGTACACCCTGGCCCAGGACTCTGGACGCCAAGGCCACCTTCTGCTTGGAGAGTCGGGAGGAGGAGACCTGGGAAGACCCAGACAGGAGTAGCCCTTTCCTTTTGTTAAATGCCATGCCCAGCTCTGTGCCCACAGGAGGGTGTCTGGCACGGGAGGGGGCTCAGTATAGGAGGCATAGCCAGAGGGGCCCGGGAGGACCAGGTCCCGGGAAAGGCCCTGCAGGAGCCCAGTGCTCACTGCCCCTCCCAGGCCTTCGAAGTGGAGTCCAGCACCAAGGCCAAGGACTTCTGCCAGAACATCGCCACCAGGCTGCTCCTCAAGTCCTCAGAGGGATTCAGCCTCTTTGTCAAAATTGCAGACAAGGTGGGTCCTTTGCCACCTTCGCCAAGGTGGGAGATTTGCTGGGGCCATAGGAACTTACGGACAGCAGACGGAAGAGAGAGGAACTGGGGGAGAGAGGGGAAGAGGGCACTGGCATCTGGCCATCTTCTTCCATCCCTGCAGCCTCCCCTTACATGGAGTGGCTGCCCCCAGCTCTCTCTCTTCTGAGGCACTGCACATGGCTCAAACCCTCTTAGGGGCATGTGCCCAGGTGCTCTGTGTTCTAAAAACACCAGACCCTCACCCTGCCCCAACACACATGTTCTTTCCATATTTGCTTTGACTGGCCCTTAATTGCCATGCTGGGGCAAATTAACCCTTGAAAGAATGTGTGATCATCCCCACTTGATAGATCACATAACTAGGGCTCAGAGAGGTTAGGTAACTTGTCCAAGGTCACACAGCAGGGACTGAGCTCCAGGTGGGTCTGGCTCTAAAGCCCACGCCCCTGCCACCATTTCACATCACGCTCCCCCAGCACCTCTGTCCCTGGAAGTCTTCCAGGCCCAGCTAAAGACCCCTCCACGGGAAGGCCTCCCTGACCGAGTTGGGTGCCCCATCCTGTTGCCTGCTGATGGCTCTGTGTGCCTCTGTGTCTGTTTCCTCACTTCATGCCTGTCTCTGTGCCAGACGCTGGGACCCAGAGGTGACCCCAATGAGGTCCTAGACCCAGGGGAGCCCAGAGCTGCAGGAGGAGCTGGACATGGATGCCAGAGAATGTCCAAGCCAGGGGCTGGGCCGCATTCTTGGCCAGTTTCCCTTGAGTCTAAGGCAGCGTTCAGTGTCCCAGGCACTGAATGGAATGACCATCGCTCCCGGCAAGAAGTGGGCTCTTCCGGGGACACTCAGCAGGCACATGGGGCAGGGTGGGGCTGACACACAGAAACCCCTTCCGGCTGGGAGTGGAGTCTTCCCTGAGAAGGAGCAGCTGCCAGACAGGCCTTAGGTGGGAAGGTCAGAAAATGCAGTGTTGCTTAAACTGAGTGTGCTTCGATGGCCCTGACCCCAGGTCCTCAGCGTTCCTGAGAATGACTTCTTCTTTGACTTTGTTCGACACTTGACAGACTGGATAAAGAAAGCTCGGCCCATCAAGGACGGTAATGAGGCCGGGTCCTGGGATCATCTGAGGCCCAGAGCAGGGAAGTGTGGGCTCGGGGCTGTGCCGTGAGGCCCACCTAGGCGGGCCTGAGTGAGGGCCTCCTCTGGGTCTGGGCTCGGGACGTGAGCACTCCTCTGTGCAGGGACCCTCTGGGTGACCGACTGCCCTGTGCTGCAGGAATTGTGCCCTCACTCACCTACCAGGTGTTCTTCATGAAGAAGCTGTGGACCACCACGGTGCCAGGGAAGGATCCCATGGCCGGTTCCATCTTCCACTATTACCAGGTGGGCACCTCTGCACTCTAGTTGCCTTCGTGCACAGCTAGCGTTGCTGTACTTTGGCCCTGAAAGCAGAGACCCACTGACCTTGCCAGGTGTGGGGCCCGTACCAGCCTGGCCTCAAAGGGATTCCTGCCAAGACCACTGGAGCCCCAAGGGATGGCCCAACCCCTGATCCTTGTATCTTCTGATTCTTCAGCCCTTAGGGGCTTGACAGTTCCTCCTCTGAGCTTCCGATCCCTACCTGTTCAGGCCCCTCCTTCAGTGCGGGGCTATCCTCTGACTTCGAGATTCTGCTGTTGTAACTGGGTAATTCCAAGGCCTCTGTGCAAACATTTTCTAGCATAGGCACCTGCAGGAAGCCGGGAGGGAAGCTTGCATGTTGAGCCTCTATTATGTGTCTGGCACTCTTCTCTCATTCTGTCCTCCCAACTAACCCCAAGAAGCAGGCATGTTGTCCCCATTTGACAGAGGGACAAAGAGACTCAGGCCGCGTGCTGTGATTAGGATCACACAGCTGATGGAACTGGGGTTTGATTCCAGGTCTTCATGACTGCAGGTTGGTGCTCTTTTCTGGGCTCAGCCTGCTTACCATTCTGTGGGAGAAAAACCATGATGCTGGGAAGGGCAGAGGAGGCAGGGACGGTGGCTGCTGTGGCAGAGAGGACACTGGCCTGGGAGTGAGAAGGACTGCCCTCATCCAAACCTGGGATCTACCTTTCCTCATGCCCCTCCCCACCCACCCCATGCTGCCCACTGAGTGCATGGCCCCTGGACTACCAGTTCCCCCAGAGTCAGCCTTGACATCTGCTCCTCCTGTCCCACGTCCCAAATCACTTACCTGATGACTGTACCTCCTGGATATCTCTAAAGTCCCCCATGTCTCTCCATCACCACCTTCCCAACCTGGGTCAGTCTACCATCATCTCTGATCCAGAATGGAGGCAGTGACCTTCTCCCTGTTCTCCTCATCCATTTTGGTCCTTTCAATCCTTTCTCCACAGGGTGGTCATCCTGCTTTCCAGATTCCCCCAGTGGATTCCCCTTGCTCGTAGGGCATAACCCCCGTCCTGGCCGTGGCCCTGCCTGGTGGTGCCACTAACTGCTCCTGCTGCCTTGCCTTGTACCTGGCTCTCCTTCAGCTCAGCTGGATTGTTTCCGCTTCTCAAGTGTGCCACAGGGCCTTTGTAATGTTGGGATGCTCTTCCCTCAGTTCCTTCCCTCACCTACTGAGCTTTTAGATGTCAGTCAGCCATTTTATCTTAAAGGAAGTCTGCCCTGTCCTCAAGCCTAGATTAGGTCACCTTGTTATATTCTCTTACAGCACTGTGGACAATTCCTTCAAAGGTTGTCATTATATATCTGTTTGGTATGATTTTTAATGTCTGTCCTTGCCCTGAGACTACAAGTTCCATGGAAGTAGGGAGGGTAGGCATTGTTGCTTAAAGGGCCTGGCTCATAGATGTTCAATGCATGCTTGTTGGATTGACAGATGGGTGAGTAGGTAAACTGGTGGCTCAATGAACATAGAGATGGGAGGATGAATGCTGAGTGAATTGATGGGTGGATATTGGTAAGTGAATTGGTGAGTTAGGTAGGTGAGTGGGTGGATGGGTGGGTAGATGGATGGACAGATAGGGAGATGGATGGAGGTAGATGTGTAGGTAGATAGACCCATAACCACATGGATGGGTGGGTAGGATGGATAATGATTGACTCAGATCTCTGACTGACAATGTATCCTCAGGCCAGCCTCAGTTTCTCTACCTTTCAAATTGTGTATAAGATGACCATAAGGCTCTAGGAGTCTGTGGGCAGCGCCAGCCCTTCAGAGGCTTCATCTCTGCTCTGGGCCCATTCCCCAGCCTAAGTTCCTCTGGTTTTGGGTCTGGAAGTTCAAGGGGGTGGGAGGGCCTCTGCTACTGCTAATGAAAGCAGCTGGTCTCAAGAGAACCCAATGCAAGGAGGCCAGACTGAGAGGCTCTTCCAGAGGAGGATGGGCCCAGGAGGTGAGGGGTATGGAACAGTCTC
|
Task1_train_16360
|
Located on Chromosome 11, this mutation impacts MYO7A (myosin VIIA). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
|
Pathogenic; Usher syndrome
|
TCTTCGAGGTGAAGGTACACCATGGGCTTCTCAGAGCAGAGGAGGAGGGGAACAGGGCATTGATAAAGCACAGAGACTCCTCCCTAGGACTGTGGGAAAGAGCCATGGCCTTGGACACCTGCCCTGGTGAGGGAAGGAGGGCAGCACCCTCAGCCTTGTCCCAGCTTAGCGTCTTAGCTGGGGTAAGTCCTGGGGACAGAGGGACCAGAAGAAGCTCAGCCTGGCAGTGGAGGCAGACATGTAAACAGGCTGGGGTAATGGAGGATGGCCTGTGTTCTGACACTGGGGAGCCCTCGCCCAGGTGGCAGAGCTCGGGAGGCTCTGCCGGGTGTGAGAAGGCCTCTTAGAGGAGGTGATATCTGAGCTTTCCAGGCAGACCCTGGAAAGAGTGCTCCTGGCAGGGGTCCCACATAGACAAAGGCCTGGAGGTGTGAGAACTCAGGTCTGGGAAGGAAATCCAAGTAGTGAGGGCAGGAGGCGAGAGTGGGCTGTGGAGAGCAGCAGCTTGGCAAGCAGGTGAGAGGCTGGGTTTCCTGCAGGGGTGGCCTGCCTTGGAGGGTTTTGAACACAGGTGACGTGGCCAGAAAGCCTCTCAGGCTGCGGGTGGAGGAGGGGTCTGAGGGGCACAACAGAGGCAGGAGTATGGTGAGGAGGCTGGTGTGAGAGGATACGTATGGTCTTATCACACAGCTAGGATGGGAGGCCTTTTGAGGAGCTTGGCTGTGCGAGGAGAACAGGTAGGTAGCTGGAGGCAGGTGCAGGGTCCAGGAGGCTTTTTAAAGATGGGAGGCCCTTGGGCTGAGAGGGAGGACAAAGCAGAGGATGGCCTGGGGGACCCAGGAAGGGATGTGGGGCAGCACTGAGGGCCCAGCGGAGGTGGAAGCCATAGGTCATGGCAGGGCCGTCAGTACCACATAGGCAACAGGAGAGGCTGACTTTATCCCAGCTGGGGCCAGGCTTCATTCCTGTCCCCAAATGCTTTTCTTGCTCTGGGCCCCCATCTGATGCCTTCTCATCTTTTTTTCTAGCAAACTACGGAGCCAAACTTCCCTGAGATCCTCCTAATTGCCATCAACAAGTATGGGGTCAGCCTCATCGATCCCAAAACGAAGGTGAGCAGGGATAAGGCAGCAAGTGGGGGCGGGCTTCTCTGCCTGAACCACAGACACGGTCCCAGAACGAACCCCACAAGCCCTCCTAGCCACCATCTATCTCTAGACTCATCCACCCATCACGTGGCTTCAAAAGCTGTCAGCGTTTGCTAGGACTTTACCCAACGCTTGCTCCACCAAAATTGCTCTCCTGAAGTTACTAACAAACTCCTTCCTATGGAATGTGAACTCCCTTTAGTACTTGGCCTTTCAGTATCACTGGATGCTCTGCCCATGCAGGTCATGGGGCTGGCTGTGCAGGGGTGACCGTGCATCTGTGTTTCTGGGCCAGAGCAGCCCAGCTGCACACCCAGAGGGTCCGACTGGACAGGTGGTGAAGAGGGCTCGTGACCACCATCTTTCCATTGGCTTCATGCATCACGCATTCCTGGCTGTCCTCTGTGTCTTGGTCATTCCTTCCCGGACCCTTTGGTGCCTGCTCCTGTACACCGTGTTTCCCAAGGTTCTGCCCTGTCTTCTTCTTGGCTCCCTCCTCAAACTCTCCCTGGACCATCTCATTCAGGCCACGGTGTCAGTTCCCTCAGGTCTCCCAATTTCCGAGTTCTGGCCCCAAGTACCCAACAGCCTCCTAGACTTCCTGGGTGTCCAAACCAAGGTGTGGAGGGGGAGGCACCTGCTTCCCACCGCAGCTGGATGGCAGAGCTGGCTTTTCCCTCCGGCCATGGGCTCCTCTGAGGGCCTGAGGCCTTCTGTGAGGGCATGTGTGGGCAAGTGAGGCCACAGGGCCCAGGCCGTGCCTCTCTATGCCCTTTCTGCTCCCCCAGGATATCCTCACCACTCATCCCTTCACCAAGATCTCCAACTGGAGCAGCGGCAACACCTACTTCCACATCACCATTGGGAACTTGGTGCGCGGGAGCAAACTGCTCTGCGAGACGTCACTGGTGAGGGCGCATCCTGCTGGGCCTAGTGGGCTCCCTGCCTTGCCTGCAGCGTAGCCAGCCTCCCAGGGCCTGGAACAAACACAGTAGTGTGCGGCTGGGCCTGGGGTCGTGGGCAAGGGTCATGCTGGGGCCAAGGTCAGGTCAGTTTGAGGCTCAGCTTAGGTCTGGGGAAGGGACTTAATCTGGGGCTGAGGAACAGATCCCTCGTTCAACAACTGTTGTCTGAGTGCCTTCAGTATCTGGGGATCGGGCCCACTGTGACAGCCCTTTAGCCCCCCGAGTTCAACAGTGGAACCATTAACAATGAGACCTCCTTGACCAAGCTCAAACTTCCAAGGCATAGCTCAACTGAGAGCCAGTAGGGTCACTCTTGGAGGGAGGGATCCGTGACTTGAGGGACCCACAAGCTAGGGGCTTAATGTGGGGTCATAACAGTGTAGAACCTTAGCCATCTGGCTGGATGAATTCAACCCTTCAATTGTGCAGATGGGAGATAAGCCCTGAGTAGGAGGGATTTGCCTTTGTCCTGGGTTCTGCCCATTGCAGATTCCTGGGAGCTGTGCTATGGTCTGAGTGGCTGGCCCTGTCCCACCGTGTGCTCGCTTATCTTCTCACCCCTGCTTCCAGGGCTACAAGATGGATGACCTCCTGACTTCCTACATTAGCCAGATGCTCACAGCCATGAGCAAACAGCGGGGCTCCAGGAGCGGCAAGTGAACAGTCACGGGGAGGTGCTGGTTCCATGCCTGCTCTCGAGGCAGCAGTGGGTTCAGGCCCATCAGCTACCCCTGCAGCTGGGGAAGACTTATGCCATCCCGGCAGCGAGGCTGGGCTGGCCAGCCACCACTGACTATACCAACTGGGCCTCTGATGTTCTTCCAGTGAGGCATCTCTCTGGGATGCAGAACTTCCCTCCATCCACCCCTCTGGCACCTGGGTTGGTCTAATCCTAGTTTGCTGTGGCCTTCCCGGTTGTGAGAGCCTGTGATCCTTAGATGTGTCTCCTGTTTCAGACCAGCCCCACCATGCAACTTCCTTTGACTTTCTGTGTACCACTGGGATAGAGGAATCAAGAGGACAATCTAGCTCTCCATACTTTGAACAACCAAATGTGCATTGAATACTCTGAAACCGAAGGGACTGGATCTGCAGGTGGGATGAGGGAGACAGACCACTTTTCTATATTGCAGTGTGAATGCTGGGCCCCTGCTCAAGTCTACCCTGATCACCTCAGGGCATAAAGCATGTTTCATTCTCTGGCCCGACAGTGTCTTTGCTCAGGGAGGGGAAGTGGAAGGGAAGGGCATGTGGGGTCAGGACAGGGCCTTGCAGGGGAGCAGCCTATATAACGACTTCTTTGGTCTTAACCTGCTGGGGCCAAGCTGGTCTGGGTTTGGGGGTTGGGGAGCTTGAGCTCAAGATGTGCCTTAAGTGGCTTAAAGGGAAGAGCTGAGATTGGGGTGGGTTGGGAGGAAGTGCTGGACATCAGGCTGGGAGGTGAGGACCAAGTGTGCATGAGCAGCTGGGGGTCTAGAGGAGGAATCAGCTTCTGGGCTGTAACTAGGGCCAGTGGAGCCACAGCGGCCCTTGCACCTGCCAGAAACACCTTGGCTCATCAAGACATGTCCAAGAACCCCAAGAACAATGCTGCCTTGGGTTAAATCTTCATGTCCAGTGGGTGCCAGTAAAATGTTACTTTGTGACCAGCATGGGACAACCAGGTTTGGCCATGACTGGAGTAGGGCTGCGGGTGGGGGTTTCAGACAGGGAAGGTGTGACTTAGAGGTGGGGCATCCTCAGACTGTGGCTGGGATGAGCACCTAGAGAAGTGATTGATTGATTGATTGATAGTGGAGAATCCCCTTGTGGGGAGGGTTTGTGATCTGCCCTCGAGGTCCCATACTTCAGCAGAGCCAGGTCCTGCTTCTTTTCATACACTACAGTGTCTGGGTCATCAGCATCTGTGTGTCTGTCTACCCCACAAGGAGTGCTATTCCTGATCTCCTTAGCTGTTTGTTAGTGTAGGACTGGCTGGTGTGT
|
TCTTCGAGGTGAAGGTACACCATGGGCTTCTCAGAGCAGAGGAGGAGGGGAACAGGGCATTGATAAAGCACAGAGACTCCTCCCTAGGACTGTGGGAAAGAGCCATGGCCTTGGACACCTGCCCTGGTGAGGGAAGGAGGGCAGCACCCTCAGCCTTGTCCCAGCTTAGCGTCTTAGCTGGGGTAAGTCCTGGGGACAGAGGGACCAGAAGAAGCTCAGCCTGGCAGTGGAGGCAGACATGTAAACAGGCTGGGGTAATGGAGGATGGCCTGTGTTCTGACACTGGGGAGCCCTCGCCCAGGTGGCAGAGCTCGGGAGGCTCTGCCGGGTGTGAGAAGGCCTCTTAGAGGAGGTGATATCTGAGCTTTCCAGGCAGACCCTGGAAAGAGTGCTCCTGGCAGGGGTCCCACATAGACAAAGGCCTGGAGGTGTGAGAACTCAGGTCTGGGAAGGAAATCCAAGTAGTGAGGGCAGGAGGCGAGAGTGGGCTGTGGAGAGCAGCAGCTTGGCAAGCAGGTGAGAGGCTGGGTTTCCTGCAGGGGTGGCCTGCCTTGGAGGGTTTTGAACACAGGTGACGTGGCCAGAAAGCCTCTCAGGCTGCGGGTGGAGGAGGGGTCTGAGGGGCACAACAGAGGCAGGAGTATGGTGAGGAGGCTGGTGTGAGAGGATACGTATGGTCTTATCACACAGCTAGGATGGGAGGCCTTTTGAGGAGCTTGGCTGTGCGAGGAGAACAGGTAGGTAGCTGGAGGCAGGTGCAGGGTCCAGGAGGCTTTTTAAAGATGGGAGGCCCTTGGGCTGAGAGGGAGGACAAAGCAGAGGATGGCCTGGGGGACCCAGGAAGGGATGTGGGGCAGCACTGAGGGCCCAGCGGAGGTGGAAGCCATAGGTCATGGCAGGGCCGTCAGTACCACATAGGCAACAGGAGAGGCTGACTTTATCCCAGCTGGGGCCAGGCTTCATTCCTGTCCCCAAATGCTTTTCTTGCTCTGGGCCCCCATCTGATGCCTTCTCATCTTTTTTTCTAGCAAACTACGGAGCCAAACTTCCCTGAGATCCTCCTAATTGCCATCAACAAGTATGGGGTCAGCCTCATCGATCCCAAAACGAAGGTGAGCAGGGATAAGGCAGCAAGTGGGGGCGGGCTTCTCTGCCTGAACCACAGACACGGTCCCAGAACGAACCCCACAAGCCCTCCTAGCCACCATCTATCTCTAGACTCATCCACCCATCACGTGGCTTCAAAAGCTGTCAGCGTTTGCTAGGACTTTACCCAACGCTTGCTCCACCAAAATTGCTCTCCTGAAGTTACTAACAAACTCCTTCCTATGGAATGTGAACTCCCTTTAGTACTTGGCCTTTCAGTATCACTGGATGCTCTGCCCATGCAGGTCATGGGGCTGGCTGTGCAGGGGTGACCGTGCATCTGTGTTTCTGGGCCAGAGCAGCCCAGCTGCACACCCAGAGGGTCCGACTGGACAGGTGGTGAAGAGGGCTCGTGACCACCATCTTTCCATTGGCTTCATGCATCACGCATTCCTGGCTGTCCTCTGTGTCTTGGTCATTCCTTCCCGGACCCTTTGGTGCCTGCTCCTGTACACCGTGTTTCCCAAGGTTCTGCCCTGTCTTCTTCTTGGCTCCCTCCTCAAACTCTCCCTGGACCATCTCATTCAGGCCACGGTGTCAGTTCCCTCAGGTCTCCCAATTTCCGAGTTCTGGCCCCAAGTACCCAACAGCCTCCTAGACTTCCTGGGTGTCCAAACCAAGGTGTGGAGGGGGAGGCACCTGCTTCCCACCGCAGCTGGATGGCAGAGCTGGCTTTTCCCTCCGGCCATGGGCTCCTCTGAGGGCCTGAGGCCTTCTGTGAGGGCATGTGTGGGCAAGTGAGGCCACAGGGCCCAGGCCGTGCCTCTCTATGCCCTTTCTGCTCCCCCAGGATATCCTCACCACTCATCCCTTCACCAAGATCTCCAACTGGAGCAGCGGCAACACCTACTTCCACATCACCATTGGGAACTTGGTGCGCGGGAGCAAACTGCTCTGCGAGATGTCACTGGTGAGGGCGCATCCTGCTGGGCCTAGTGGGCTCCCTGCCTTGCCTGCAGCGTAGCCAGCCTCCCAGGGCCTGGAACAAACACAGTAGTGTGCGGCTGGGCCTGGGGTCGTGGGCAAGGGTCATGCTGGGGCCAAGGTCAGGTCAGTTTGAGGCTCAGCTTAGGTCTGGGGAAGGGACTTAATCTGGGGCTGAGGAACAGATCCCTCGTTCAACAACTGTTGTCTGAGTGCCTTCAGTATCTGGGGATCGGGCCCACTGTGACAGCCCTTTAGCCCCCCGAGTTCAACAGTGGAACCATTAACAATGAGACCTCCTTGACCAAGCTCAAACTTCCAAGGCATAGCTCAACTGAGAGCCAGTAGGGTCACTCTTGGAGGGAGGGATCCGTGACTTGAGGGACCCACAAGCTAGGGGCTTAATGTGGGGTCATAACAGTGTAGAACCTTAGCCATCTGGCTGGATGAATTCAACCCTTCAATTGTGCAGATGGGAGATAAGCCCTGAGTAGGAGGGATTTGCCTTTGTCCTGGGTTCTGCCCATTGCAGATTCCTGGGAGCTGTGCTATGGTCTGAGTGGCTGGCCCTGTCCCACCGTGTGCTCGCTTATCTTCTCACCCCTGCTTCCAGGGCTACAAGATGGATGACCTCCTGACTTCCTACATTAGCCAGATGCTCACAGCCATGAGCAAACAGCGGGGCTCCAGGAGCGGCAAGTGAACAGTCACGGGGAGGTGCTGGTTCCATGCCTGCTCTCGAGGCAGCAGTGGGTTCAGGCCCATCAGCTACCCCTGCAGCTGGGGAAGACTTATGCCATCCCGGCAGCGAGGCTGGGCTGGCCAGCCACCACTGACTATACCAACTGGGCCTCTGATGTTCTTCCAGTGAGGCATCTCTCTGGGATGCAGAACTTCCCTCCATCCACCCCTCTGGCACCTGGGTTGGTCTAATCCTAGTTTGCTGTGGCCTTCCCGGTTGTGAGAGCCTGTGATCCTTAGATGTGTCTCCTGTTTCAGACCAGCCCCACCATGCAACTTCCTTTGACTTTCTGTGTACCACTGGGATAGAGGAATCAAGAGGACAATCTAGCTCTCCATACTTTGAACAACCAAATGTGCATTGAATACTCTGAAACCGAAGGGACTGGATCTGCAGGTGGGATGAGGGAGACAGACCACTTTTCTATATTGCAGTGTGAATGCTGGGCCCCTGCTCAAGTCTACCCTGATCACCTCAGGGCATAAAGCATGTTTCATTCTCTGGCCCGACAGTGTCTTTGCTCAGGGAGGGGAAGTGGAAGGGAAGGGCATGTGGGGTCAGGACAGGGCCTTGCAGGGGAGCAGCCTATATAACGACTTCTTTGGTCTTAACCTGCTGGGGCCAAGCTGGTCTGGGTTTGGGGGTTGGGGAGCTTGAGCTCAAGATGTGCCTTAAGTGGCTTAAAGGGAAGAGCTGAGATTGGGGTGGGTTGGGAGGAAGTGCTGGACATCAGGCTGGGAGGTGAGGACCAAGTGTGCATGAGCAGCTGGGGGTCTAGAGGAGGAATCAGCTTCTGGGCTGTAACTAGGGCCAGTGGAGCCACAGCGGCCCTTGCACCTGCCAGAAACACCTTGGCTCATCAAGACATGTCCAAGAACCCCAAGAACAATGCTGCCTTGGGTTAAATCTTCATGTCCAGTGGGTGCCAGTAAAATGTTACTTTGTGACCAGCATGGGACAACCAGGTTTGGCCATGACTGGAGTAGGGCTGCGGGTGGGGGTTTCAGACAGGGAAGGTGTGACTTAGAGGTGGGGCATCCTCAGACTGTGGCTGGGATGAGCACCTAGAGAAGTGATTGATTGATTGATTGATAGTGGAGAATCCCCTTGTGGGGAGGGTTTGTGATCTGCCCTCGAGGTCCCATACTTCAGCAGAGCCAGGTCCTGCTTCTTTTCATACACTACAGTGTCTGGGTCATCAGCATCTGTGTGTCTGTCTACCCCACAAGGAGTGCTATTCCTGATCTCCTTAGCTGTTTGTTAGTGTAGGACTGGCTGGTGTGT
|
Task1_train_16361
|
Chromosome 11 houses a mutation in gene MYO7A (myosin VIIA). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
|
Pathogenic; Usher syndrome type 1
|
TCTTCGAGGTGAAGGTACACCATGGGCTTCTCAGAGCAGAGGAGGAGGGGAACAGGGCATTGATAAAGCACAGAGACTCCTCCCTAGGACTGTGGGAAAGAGCCATGGCCTTGGACACCTGCCCTGGTGAGGGAAGGAGGGCAGCACCCTCAGCCTTGTCCCAGCTTAGCGTCTTAGCTGGGGTAAGTCCTGGGGACAGAGGGACCAGAAGAAGCTCAGCCTGGCAGTGGAGGCAGACATGTAAACAGGCTGGGGTAATGGAGGATGGCCTGTGTTCTGACACTGGGGAGCCCTCGCCCAGGTGGCAGAGCTCGGGAGGCTCTGCCGGGTGTGAGAAGGCCTCTTAGAGGAGGTGATATCTGAGCTTTCCAGGCAGACCCTGGAAAGAGTGCTCCTGGCAGGGGTCCCACATAGACAAAGGCCTGGAGGTGTGAGAACTCAGGTCTGGGAAGGAAATCCAAGTAGTGAGGGCAGGAGGCGAGAGTGGGCTGTGGAGAGCAGCAGCTTGGCAAGCAGGTGAGAGGCTGGGTTTCCTGCAGGGGTGGCCTGCCTTGGAGGGTTTTGAACACAGGTGACGTGGCCAGAAAGCCTCTCAGGCTGCGGGTGGAGGAGGGGTCTGAGGGGCACAACAGAGGCAGGAGTATGGTGAGGAGGCTGGTGTGAGAGGATACGTATGGTCTTATCACACAGCTAGGATGGGAGGCCTTTTGAGGAGCTTGGCTGTGCGAGGAGAACAGGTAGGTAGCTGGAGGCAGGTGCAGGGTCCAGGAGGCTTTTTAAAGATGGGAGGCCCTTGGGCTGAGAGGGAGGACAAAGCAGAGGATGGCCTGGGGGACCCAGGAAGGGATGTGGGGCAGCACTGAGGGCCCAGCGGAGGTGGAAGCCATAGGTCATGGCAGGGCCGTCAGTACCACATAGGCAACAGGAGAGGCTGACTTTATCCCAGCTGGGGCCAGGCTTCATTCCTGTCCCCAAATGCTTTTCTTGCTCTGGGCCCCCATCTGATGCCTTCTCATCTTTTTTTCTAGCAAACTACGGAGCCAAACTTCCCTGAGATCCTCCTAATTGCCATCAACAAGTATGGGGTCAGCCTCATCGATCCCAAAACGAAGGTGAGCAGGGATAAGGCAGCAAGTGGGGGCGGGCTTCTCTGCCTGAACCACAGACACGGTCCCAGAACGAACCCCACAAGCCCTCCTAGCCACCATCTATCTCTAGACTCATCCACCCATCACGTGGCTTCAAAAGCTGTCAGCGTTTGCTAGGACTTTACCCAACGCTTGCTCCACCAAAATTGCTCTCCTGAAGTTACTAACAAACTCCTTCCTATGGAATGTGAACTCCCTTTAGTACTTGGCCTTTCAGTATCACTGGATGCTCTGCCCATGCAGGTCATGGGGCTGGCTGTGCAGGGGTGACCGTGCATCTGTGTTTCTGGGCCAGAGCAGCCCAGCTGCACACCCAGAGGGTCCGACTGGACAGGTGGTGAAGAGGGCTCGTGACCACCATCTTTCCATTGGCTTCATGCATCACGCATTCCTGGCTGTCCTCTGTGTCTTGGTCATTCCTTCCCGGACCCTTTGGTGCCTGCTCCTGTACACCGTGTTTCCCAAGGTTCTGCCCTGTCTTCTTCTTGGCTCCCTCCTCAAACTCTCCCTGGACCATCTCATTCAGGCCACGGTGTCAGTTCCCTCAGGTCTCCCAATTTCCGAGTTCTGGCCCCAAGTACCCAACAGCCTCCTAGACTTCCTGGGTGTCCAAACCAAGGTGTGGAGGGGGAGGCACCTGCTTCCCACCGCAGCTGGATGGCAGAGCTGGCTTTTCCCTCCGGCCATGGGCTCCTCTGAGGGCCTGAGGCCTTCTGTGAGGGCATGTGTGGGCAAGTGAGGCCACAGGGCCCAGGCCGTGCCTCTCTATGCCCTTTCTGCTCCCCCAGGATATCCTCACCACTCATCCCTTCACCAAGATCTCCAACTGGAGCAGCGGCAACACCTACTTCCACATCACCATTGGGAACTTGGTGCGCGGGAGCAAACTGCTCTGCGAGACGTCACTGGTGAGGGCGCATCCTGCTGGGCCTAGTGGGCTCCCTGCCTTGCCTGCAGCGTAGCCAGCCTCCCAGGGCCTGGAACAAACACAGTAGTGTGCGGCTGGGCCTGGGGTCGTGGGCAAGGGTCATGCTGGGGCCAAGGTCAGGTCAGTTTGAGGCTCAGCTTAGGTCTGGGGAAGGGACTTAATCTGGGGCTGAGGAACAGATCCCTCGTTCAACAACTGTTGTCTGAGTGCCTTCAGTATCTGGGGATCGGGCCCACTGTGACAGCCCTTTAGCCCCCCGAGTTCAACAGTGGAACCATTAACAATGAGACCTCCTTGACCAAGCTCAAACTTCCAAGGCATAGCTCAACTGAGAGCCAGTAGGGTCACTCTTGGAGGGAGGGATCCGTGACTTGAGGGACCCACAAGCTAGGGGCTTAATGTGGGGTCATAACAGTGTAGAACCTTAGCCATCTGGCTGGATGAATTCAACCCTTCAATTGTGCAGATGGGAGATAAGCCCTGAGTAGGAGGGATTTGCCTTTGTCCTGGGTTCTGCCCATTGCAGATTCCTGGGAGCTGTGCTATGGTCTGAGTGGCTGGCCCTGTCCCACCGTGTGCTCGCTTATCTTCTCACCCCTGCTTCCAGGGCTACAAGATGGATGACCTCCTGACTTCCTACATTAGCCAGATGCTCACAGCCATGAGCAAACAGCGGGGCTCCAGGAGCGGCAAGTGAACAGTCACGGGGAGGTGCTGGTTCCATGCCTGCTCTCGAGGCAGCAGTGGGTTCAGGCCCATCAGCTACCCCTGCAGCTGGGGAAGACTTATGCCATCCCGGCAGCGAGGCTGGGCTGGCCAGCCACCACTGACTATACCAACTGGGCCTCTGATGTTCTTCCAGTGAGGCATCTCTCTGGGATGCAGAACTTCCCTCCATCCACCCCTCTGGCACCTGGGTTGGTCTAATCCTAGTTTGCTGTGGCCTTCCCGGTTGTGAGAGCCTGTGATCCTTAGATGTGTCTCCTGTTTCAGACCAGCCCCACCATGCAACTTCCTTTGACTTTCTGTGTACCACTGGGATAGAGGAATCAAGAGGACAATCTAGCTCTCCATACTTTGAACAACCAAATGTGCATTGAATACTCTGAAACCGAAGGGACTGGATCTGCAGGTGGGATGAGGGAGACAGACCACTTTTCTATATTGCAGTGTGAATGCTGGGCCCCTGCTCAAGTCTACCCTGATCACCTCAGGGCATAAAGCATGTTTCATTCTCTGGCCCGACAGTGTCTTTGCTCAGGGAGGGGAAGTGGAAGGGAAGGGCATGTGGGGTCAGGACAGGGCCTTGCAGGGGAGCAGCCTATATAACGACTTCTTTGGTCTTAACCTGCTGGGGCCAAGCTGGTCTGGGTTTGGGGGTTGGGGAGCTTGAGCTCAAGATGTGCCTTAAGTGGCTTAAAGGGAAGAGCTGAGATTGGGGTGGGTTGGGAGGAAGTGCTGGACATCAGGCTGGGAGGTGAGGACCAAGTGTGCATGAGCAGCTGGGGGTCTAGAGGAGGAATCAGCTTCTGGGCTGTAACTAGGGCCAGTGGAGCCACAGCGGCCCTTGCACCTGCCAGAAACACCTTGGCTCATCAAGACATGTCCAAGAACCCCAAGAACAATGCTGCCTTGGGTTAAATCTTCATGTCCAGTGGGTGCCAGTAAAATGTTACTTTGTGACCAGCATGGGACAACCAGGTTTGGCCATGACTGGAGTAGGGCTGCGGGTGGGGGTTTCAGACAGGGAAGGTGTGACTTAGAGGTGGGGCATCCTCAGACTGTGGCTGGGATGAGCACCTAGAGAAGTGATTGATTGATTGATTGATAGTGGAGAATCCCCTTGTGGGGAGGGTTTGTGATCTGCCCTCGAGGTCCCATACTTCAGCAGAGCCAGGTCCTGCTTCTTTTCATACACTACAGTGTCTGGGTCATCAGCATCTGTGTGTCTGTCTACCCCACAAGGAGTGCTATTCCTGATCTCCTTAGCTGTTTGTTAGTGTAGGACTGGCTGGTGTGT
|
TCTTCGAGGTGAAGGTACACCATGGGCTTCTCAGAGCAGAGGAGGAGGGGAACAGGGCATTGATAAAGCACAGAGACTCCTCCCTAGGACTGTGGGAAAGAGCCATGGCCTTGGACACCTGCCCTGGTGAGGGAAGGAGGGCAGCACCCTCAGCCTTGTCCCAGCTTAGCGTCTTAGCTGGGGTAAGTCCTGGGGACAGAGGGACCAGAAGAAGCTCAGCCTGGCAGTGGAGGCAGACATGTAAACAGGCTGGGGTAATGGAGGATGGCCTGTGTTCTGACACTGGGGAGCCCTCGCCCAGGTGGCAGAGCTCGGGAGGCTCTGCCGGGTGTGAGAAGGCCTCTTAGAGGAGGTGATATCTGAGCTTTCCAGGCAGACCCTGGAAAGAGTGCTCCTGGCAGGGGTCCCACATAGACAAAGGCCTGGAGGTGTGAGAACTCAGGTCTGGGAAGGAAATCCAAGTAGTGAGGGCAGGAGGCGAGAGTGGGCTGTGGAGAGCAGCAGCTTGGCAAGCAGGTGAGAGGCTGGGTTTCCTGCAGGGGTGGCCTGCCTTGGAGGGTTTTGAACACAGGTGACGTGGCCAGAAAGCCTCTCAGGCTGCGGGTGGAGGAGGGGTCTGAGGGGCACAACAGAGGCAGGAGTATGGTGAGGAGGCTGGTGTGAGAGGATACGTATGGTCTTATCACACAGCTAGGATGGGAGGCCTTTTGAGGAGCTTGGCTGTGCGAGGAGAACAGGTAGGTAGCTGGAGGCAGGTGCAGGGTCCAGGAGGCTTTTTAAAGATGGGAGGCCCTTGGGCTGAGAGGGAGGACAAAGCAGAGGATGGCCTGGGGGACCCAGGAAGGGATGTGGGGCAGCACTGAGGGCCCAGCGGAGGTGGAAGCCATAGGTCATGGCAGGGCCGTCAGTACCACATAGGCAACAGGAGAGGCTGACTTTATCCCAGCTGGGGCCAGGCTTCATTCCTGTCCCCAAATGCTTTTCTTGCTCTGGGCCCCCATCTGATGCCTTCTCATCTTTTTTTCTAGCAAACTACGGAGCCAAACTTCCCTGAGATCCTCCTAATTGCCATCAACAAGTATGGGGTCAGCCTCATCGATCCCAAAACGAAGGTGAGCAGGGATAAGGCAGCAAGTGGGGGCGGGCTTCTCTGCCTGAACCACAGACACGGTCCCAGAACGAACCCCACAAGCCCTCCTAGCCACCATCTATCTCTAGACTCATCCACCCATCACGTGGCTTCAAAAGCTGTCAGCGTTTGCTAGGACTTTACCCAACGCTTGCTCCACCAAAATTGCTCTCCTGAAGTTACTAACAAACTCCTTCCTATGGAATGTGAACTCCCTTTAGTACTTGGCCTTTCAGTATCACTGGATGCTCTGCCCATGCAGGTCATGGGGCTGGCTGTGCAGGGGTGACCGTGCATCTGTGTTTCTGGGCCAGAGCAGCCCAGCTGCACACCCAGAGGGTCCGACTGGACAGGTGGTGAAGAGGGCTCGTGACCACCATCTTTCCATTGGCTTCATGCATCACGCATTCCTGGCTGTCCTCTGTGTCTTGGTCATTCCTTCCCGGACCCTTTGGTGCCTGCTCCTGTACACCGTGTTTCCCAAGGTTCTGCCCTGTCTTCTTCTTGGCTCCCTCCTCAAACTCTCCCTGGACCATCTCATTCAGGCCACGGTGTCAGTTCCCTCAGGTCTCCCAATTTCCGAGTTCTGGCCCCAAGTACCCAACAGCCTCCTAGACTTCCTGGGTGTCCAAACCAAGGTGTGGAGGGGGAGGCACCTGCTTCCCACCGCAGCTGGATGGCAGAGCTGGCTTTTCCCTCCGGCCATGGGCTCCTCTGAGGGCCTGAGGCCTTCTGTGAGGGCATGTGTGGGCAAGTGAGGCCACAGGGCCCAGGCCGTGCCTCTCTATGCCCTTTCTGCTCCCCCAGGATATCCTCACCACTCATCCCTTCACCAAGATCTCCAACTGGAGCAGCGGCAACACCTACTTCCACATCACCATTGGGAACTTGGTGCGCGGGAGCAAACTGCTCTGCGAGATGTCACTGGTGAGGGCGCATCCTGCTGGGCCTAGTGGGCTCCCTGCCTTGCCTGCAGCGTAGCCAGCCTCCCAGGGCCTGGAACAAACACAGTAGTGTGCGGCTGGGCCTGGGGTCGTGGGCAAGGGTCATGCTGGGGCCAAGGTCAGGTCAGTTTGAGGCTCAGCTTAGGTCTGGGGAAGGGACTTAATCTGGGGCTGAGGAACAGATCCCTCGTTCAACAACTGTTGTCTGAGTGCCTTCAGTATCTGGGGATCGGGCCCACTGTGACAGCCCTTTAGCCCCCCGAGTTCAACAGTGGAACCATTAACAATGAGACCTCCTTGACCAAGCTCAAACTTCCAAGGCATAGCTCAACTGAGAGCCAGTAGGGTCACTCTTGGAGGGAGGGATCCGTGACTTGAGGGACCCACAAGCTAGGGGCTTAATGTGGGGTCATAACAGTGTAGAACCTTAGCCATCTGGCTGGATGAATTCAACCCTTCAATTGTGCAGATGGGAGATAAGCCCTGAGTAGGAGGGATTTGCCTTTGTCCTGGGTTCTGCCCATTGCAGATTCCTGGGAGCTGTGCTATGGTCTGAGTGGCTGGCCCTGTCCCACCGTGTGCTCGCTTATCTTCTCACCCCTGCTTCCAGGGCTACAAGATGGATGACCTCCTGACTTCCTACATTAGCCAGATGCTCACAGCCATGAGCAAACAGCGGGGCTCCAGGAGCGGCAAGTGAACAGTCACGGGGAGGTGCTGGTTCCATGCCTGCTCTCGAGGCAGCAGTGGGTTCAGGCCCATCAGCTACCCCTGCAGCTGGGGAAGACTTATGCCATCCCGGCAGCGAGGCTGGGCTGGCCAGCCACCACTGACTATACCAACTGGGCCTCTGATGTTCTTCCAGTGAGGCATCTCTCTGGGATGCAGAACTTCCCTCCATCCACCCCTCTGGCACCTGGGTTGGTCTAATCCTAGTTTGCTGTGGCCTTCCCGGTTGTGAGAGCCTGTGATCCTTAGATGTGTCTCCTGTTTCAGACCAGCCCCACCATGCAACTTCCTTTGACTTTCTGTGTACCACTGGGATAGAGGAATCAAGAGGACAATCTAGCTCTCCATACTTTGAACAACCAAATGTGCATTGAATACTCTGAAACCGAAGGGACTGGATCTGCAGGTGGGATGAGGGAGACAGACCACTTTTCTATATTGCAGTGTGAATGCTGGGCCCCTGCTCAAGTCTACCCTGATCACCTCAGGGCATAAAGCATGTTTCATTCTCTGGCCCGACAGTGTCTTTGCTCAGGGAGGGGAAGTGGAAGGGAAGGGCATGTGGGGTCAGGACAGGGCCTTGCAGGGGAGCAGCCTATATAACGACTTCTTTGGTCTTAACCTGCTGGGGCCAAGCTGGTCTGGGTTTGGGGGTTGGGGAGCTTGAGCTCAAGATGTGCCTTAAGTGGCTTAAAGGGAAGAGCTGAGATTGGGGTGGGTTGGGAGGAAGTGCTGGACATCAGGCTGGGAGGTGAGGACCAAGTGTGCATGAGCAGCTGGGGGTCTAGAGGAGGAATCAGCTTCTGGGCTGTAACTAGGGCCAGTGGAGCCACAGCGGCCCTTGCACCTGCCAGAAACACCTTGGCTCATCAAGACATGTCCAAGAACCCCAAGAACAATGCTGCCTTGGGTTAAATCTTCATGTCCAGTGGGTGCCAGTAAAATGTTACTTTGTGACCAGCATGGGACAACCAGGTTTGGCCATGACTGGAGTAGGGCTGCGGGTGGGGGTTTCAGACAGGGAAGGTGTGACTTAGAGGTGGGGCATCCTCAGACTGTGGCTGGGATGAGCACCTAGAGAAGTGATTGATTGATTGATTGATAGTGGAGAATCCCCTTGTGGGGAGGGTTTGTGATCTGCCCTCGAGGTCCCATACTTCAGCAGAGCCAGGTCCTGCTTCTTTTCATACACTACAGTGTCTGGGTCATCAGCATCTGTGTGTCTGTCTACCCCACAAGGAGTGCTATTCCTGATCTCCTTAGCTGTTTGTTAGTGTAGGACTGGCTGGTGTGT
|
Task1_train_16362
|
A variant has been detected on Chromosome 11 in MYO7A (myosin VIIA). What is its effect — pathogenic or benign? If pathogenic, name the disease.
|
Pathogenic; Autosomal dominant nonsyndromic hearing loss 11
|
TCTTCGAGGTGAAGGTACACCATGGGCTTCTCAGAGCAGAGGAGGAGGGGAACAGGGCATTGATAAAGCACAGAGACTCCTCCCTAGGACTGTGGGAAAGAGCCATGGCCTTGGACACCTGCCCTGGTGAGGGAAGGAGGGCAGCACCCTCAGCCTTGTCCCAGCTTAGCGTCTTAGCTGGGGTAAGTCCTGGGGACAGAGGGACCAGAAGAAGCTCAGCCTGGCAGTGGAGGCAGACATGTAAACAGGCTGGGGTAATGGAGGATGGCCTGTGTTCTGACACTGGGGAGCCCTCGCCCAGGTGGCAGAGCTCGGGAGGCTCTGCCGGGTGTGAGAAGGCCTCTTAGAGGAGGTGATATCTGAGCTTTCCAGGCAGACCCTGGAAAGAGTGCTCCTGGCAGGGGTCCCACATAGACAAAGGCCTGGAGGTGTGAGAACTCAGGTCTGGGAAGGAAATCCAAGTAGTGAGGGCAGGAGGCGAGAGTGGGCTGTGGAGAGCAGCAGCTTGGCAAGCAGGTGAGAGGCTGGGTTTCCTGCAGGGGTGGCCTGCCTTGGAGGGTTTTGAACACAGGTGACGTGGCCAGAAAGCCTCTCAGGCTGCGGGTGGAGGAGGGGTCTGAGGGGCACAACAGAGGCAGGAGTATGGTGAGGAGGCTGGTGTGAGAGGATACGTATGGTCTTATCACACAGCTAGGATGGGAGGCCTTTTGAGGAGCTTGGCTGTGCGAGGAGAACAGGTAGGTAGCTGGAGGCAGGTGCAGGGTCCAGGAGGCTTTTTAAAGATGGGAGGCCCTTGGGCTGAGAGGGAGGACAAAGCAGAGGATGGCCTGGGGGACCCAGGAAGGGATGTGGGGCAGCACTGAGGGCCCAGCGGAGGTGGAAGCCATAGGTCATGGCAGGGCCGTCAGTACCACATAGGCAACAGGAGAGGCTGACTTTATCCCAGCTGGGGCCAGGCTTCATTCCTGTCCCCAAATGCTTTTCTTGCTCTGGGCCCCCATCTGATGCCTTCTCATCTTTTTTTCTAGCAAACTACGGAGCCAAACTTCCCTGAGATCCTCCTAATTGCCATCAACAAGTATGGGGTCAGCCTCATCGATCCCAAAACGAAGGTGAGCAGGGATAAGGCAGCAAGTGGGGGCGGGCTTCTCTGCCTGAACCACAGACACGGTCCCAGAACGAACCCCACAAGCCCTCCTAGCCACCATCTATCTCTAGACTCATCCACCCATCACGTGGCTTCAAAAGCTGTCAGCGTTTGCTAGGACTTTACCCAACGCTTGCTCCACCAAAATTGCTCTCCTGAAGTTACTAACAAACTCCTTCCTATGGAATGTGAACTCCCTTTAGTACTTGGCCTTTCAGTATCACTGGATGCTCTGCCCATGCAGGTCATGGGGCTGGCTGTGCAGGGGTGACCGTGCATCTGTGTTTCTGGGCCAGAGCAGCCCAGCTGCACACCCAGAGGGTCCGACTGGACAGGTGGTGAAGAGGGCTCGTGACCACCATCTTTCCATTGGCTTCATGCATCACGCATTCCTGGCTGTCCTCTGTGTCTTGGTCATTCCTTCCCGGACCCTTTGGTGCCTGCTCCTGTACACCGTGTTTCCCAAGGTTCTGCCCTGTCTTCTTCTTGGCTCCCTCCTCAAACTCTCCCTGGACCATCTCATTCAGGCCACGGTGTCAGTTCCCTCAGGTCTCCCAATTTCCGAGTTCTGGCCCCAAGTACCCAACAGCCTCCTAGACTTCCTGGGTGTCCAAACCAAGGTGTGGAGGGGGAGGCACCTGCTTCCCACCGCAGCTGGATGGCAGAGCTGGCTTTTCCCTCCGGCCATGGGCTCCTCTGAGGGCCTGAGGCCTTCTGTGAGGGCATGTGTGGGCAAGTGAGGCCACAGGGCCCAGGCCGTGCCTCTCTATGCCCTTTCTGCTCCCCCAGGATATCCTCACCACTCATCCCTTCACCAAGATCTCCAACTGGAGCAGCGGCAACACCTACTTCCACATCACCATTGGGAACTTGGTGCGCGGGAGCAAACTGCTCTGCGAGACGTCACTGGTGAGGGCGCATCCTGCTGGGCCTAGTGGGCTCCCTGCCTTGCCTGCAGCGTAGCCAGCCTCCCAGGGCCTGGAACAAACACAGTAGTGTGCGGCTGGGCCTGGGGTCGTGGGCAAGGGTCATGCTGGGGCCAAGGTCAGGTCAGTTTGAGGCTCAGCTTAGGTCTGGGGAAGGGACTTAATCTGGGGCTGAGGAACAGATCCCTCGTTCAACAACTGTTGTCTGAGTGCCTTCAGTATCTGGGGATCGGGCCCACTGTGACAGCCCTTTAGCCCCCCGAGTTCAACAGTGGAACCATTAACAATGAGACCTCCTTGACCAAGCTCAAACTTCCAAGGCATAGCTCAACTGAGAGCCAGTAGGGTCACTCTTGGAGGGAGGGATCCGTGACTTGAGGGACCCACAAGCTAGGGGCTTAATGTGGGGTCATAACAGTGTAGAACCTTAGCCATCTGGCTGGATGAATTCAACCCTTCAATTGTGCAGATGGGAGATAAGCCCTGAGTAGGAGGGATTTGCCTTTGTCCTGGGTTCTGCCCATTGCAGATTCCTGGGAGCTGTGCTATGGTCTGAGTGGCTGGCCCTGTCCCACCGTGTGCTCGCTTATCTTCTCACCCCTGCTTCCAGGGCTACAAGATGGATGACCTCCTGACTTCCTACATTAGCCAGATGCTCACAGCCATGAGCAAACAGCGGGGCTCCAGGAGCGGCAAGTGAACAGTCACGGGGAGGTGCTGGTTCCATGCCTGCTCTCGAGGCAGCAGTGGGTTCAGGCCCATCAGCTACCCCTGCAGCTGGGGAAGACTTATGCCATCCCGGCAGCGAGGCTGGGCTGGCCAGCCACCACTGACTATACCAACTGGGCCTCTGATGTTCTTCCAGTGAGGCATCTCTCTGGGATGCAGAACTTCCCTCCATCCACCCCTCTGGCACCTGGGTTGGTCTAATCCTAGTTTGCTGTGGCCTTCCCGGTTGTGAGAGCCTGTGATCCTTAGATGTGTCTCCTGTTTCAGACCAGCCCCACCATGCAACTTCCTTTGACTTTCTGTGTACCACTGGGATAGAGGAATCAAGAGGACAATCTAGCTCTCCATACTTTGAACAACCAAATGTGCATTGAATACTCTGAAACCGAAGGGACTGGATCTGCAGGTGGGATGAGGGAGACAGACCACTTTTCTATATTGCAGTGTGAATGCTGGGCCCCTGCTCAAGTCTACCCTGATCACCTCAGGGCATAAAGCATGTTTCATTCTCTGGCCCGACAGTGTCTTTGCTCAGGGAGGGGAAGTGGAAGGGAAGGGCATGTGGGGTCAGGACAGGGCCTTGCAGGGGAGCAGCCTATATAACGACTTCTTTGGTCTTAACCTGCTGGGGCCAAGCTGGTCTGGGTTTGGGGGTTGGGGAGCTTGAGCTCAAGATGTGCCTTAAGTGGCTTAAAGGGAAGAGCTGAGATTGGGGTGGGTTGGGAGGAAGTGCTGGACATCAGGCTGGGAGGTGAGGACCAAGTGTGCATGAGCAGCTGGGGGTCTAGAGGAGGAATCAGCTTCTGGGCTGTAACTAGGGCCAGTGGAGCCACAGCGGCCCTTGCACCTGCCAGAAACACCTTGGCTCATCAAGACATGTCCAAGAACCCCAAGAACAATGCTGCCTTGGGTTAAATCTTCATGTCCAGTGGGTGCCAGTAAAATGTTACTTTGTGACCAGCATGGGACAACCAGGTTTGGCCATGACTGGAGTAGGGCTGCGGGTGGGGGTTTCAGACAGGGAAGGTGTGACTTAGAGGTGGGGCATCCTCAGACTGTGGCTGGGATGAGCACCTAGAGAAGTGATTGATTGATTGATTGATAGTGGAGAATCCCCTTGTGGGGAGGGTTTGTGATCTGCCCTCGAGGTCCCATACTTCAGCAGAGCCAGGTCCTGCTTCTTTTCATACACTACAGTGTCTGGGTCATCAGCATCTGTGTGTCTGTCTACCCCACAAGGAGTGCTATTCCTGATCTCCTTAGCTGTTTGTTAGTGTAGGACTGGCTGGTGTGT
|
TCTTCGAGGTGAAGGTACACCATGGGCTTCTCAGAGCAGAGGAGGAGGGGAACAGGGCATTGATAAAGCACAGAGACTCCTCCCTAGGACTGTGGGAAAGAGCCATGGCCTTGGACACCTGCCCTGGTGAGGGAAGGAGGGCAGCACCCTCAGCCTTGTCCCAGCTTAGCGTCTTAGCTGGGGTAAGTCCTGGGGACAGAGGGACCAGAAGAAGCTCAGCCTGGCAGTGGAGGCAGACATGTAAACAGGCTGGGGTAATGGAGGATGGCCTGTGTTCTGACACTGGGGAGCCCTCGCCCAGGTGGCAGAGCTCGGGAGGCTCTGCCGGGTGTGAGAAGGCCTCTTAGAGGAGGTGATATCTGAGCTTTCCAGGCAGACCCTGGAAAGAGTGCTCCTGGCAGGGGTCCCACATAGACAAAGGCCTGGAGGTGTGAGAACTCAGGTCTGGGAAGGAAATCCAAGTAGTGAGGGCAGGAGGCGAGAGTGGGCTGTGGAGAGCAGCAGCTTGGCAAGCAGGTGAGAGGCTGGGTTTCCTGCAGGGGTGGCCTGCCTTGGAGGGTTTTGAACACAGGTGACGTGGCCAGAAAGCCTCTCAGGCTGCGGGTGGAGGAGGGGTCTGAGGGGCACAACAGAGGCAGGAGTATGGTGAGGAGGCTGGTGTGAGAGGATACGTATGGTCTTATCACACAGCTAGGATGGGAGGCCTTTTGAGGAGCTTGGCTGTGCGAGGAGAACAGGTAGGTAGCTGGAGGCAGGTGCAGGGTCCAGGAGGCTTTTTAAAGATGGGAGGCCCTTGGGCTGAGAGGGAGGACAAAGCAGAGGATGGCCTGGGGGACCCAGGAAGGGATGTGGGGCAGCACTGAGGGCCCAGCGGAGGTGGAAGCCATAGGTCATGGCAGGGCCGTCAGTACCACATAGGCAACAGGAGAGGCTGACTTTATCCCAGCTGGGGCCAGGCTTCATTCCTGTCCCCAAATGCTTTTCTTGCTCTGGGCCCCCATCTGATGCCTTCTCATCTTTTTTTCTAGCAAACTACGGAGCCAAACTTCCCTGAGATCCTCCTAATTGCCATCAACAAGTATGGGGTCAGCCTCATCGATCCCAAAACGAAGGTGAGCAGGGATAAGGCAGCAAGTGGGGGCGGGCTTCTCTGCCTGAACCACAGACACGGTCCCAGAACGAACCCCACAAGCCCTCCTAGCCACCATCTATCTCTAGACTCATCCACCCATCACGTGGCTTCAAAAGCTGTCAGCGTTTGCTAGGACTTTACCCAACGCTTGCTCCACCAAAATTGCTCTCCTGAAGTTACTAACAAACTCCTTCCTATGGAATGTGAACTCCCTTTAGTACTTGGCCTTTCAGTATCACTGGATGCTCTGCCCATGCAGGTCATGGGGCTGGCTGTGCAGGGGTGACCGTGCATCTGTGTTTCTGGGCCAGAGCAGCCCAGCTGCACACCCAGAGGGTCCGACTGGACAGGTGGTGAAGAGGGCTCGTGACCACCATCTTTCCATTGGCTTCATGCATCACGCATTCCTGGCTGTCCTCTGTGTCTTGGTCATTCCTTCCCGGACCCTTTGGTGCCTGCTCCTGTACACCGTGTTTCCCAAGGTTCTGCCCTGTCTTCTTCTTGGCTCCCTCCTCAAACTCTCCCTGGACCATCTCATTCAGGCCACGGTGTCAGTTCCCTCAGGTCTCCCAATTTCCGAGTTCTGGCCCCAAGTACCCAACAGCCTCCTAGACTTCCTGGGTGTCCAAACCAAGGTGTGGAGGGGGAGGCACCTGCTTCCCACCGCAGCTGGATGGCAGAGCTGGCTTTTCCCTCCGGCCATGGGCTCCTCTGAGGGCCTGAGGCCTTCTGTGAGGGCATGTGTGGGCAAGTGAGGCCACAGGGCCCAGGCCGTGCCTCTCTATGCCCTTTCTGCTCCCCCAGGATATCCTCACCACTCATCCCTTCACCAAGATCTCCAACTGGAGCAGCGGCAACACCTACTTCCACATCACCATTGGGAACTTGGTGCGCGGGAGCAAACTGCTCTGCGAGATGTCACTGGTGAGGGCGCATCCTGCTGGGCCTAGTGGGCTCCCTGCCTTGCCTGCAGCGTAGCCAGCCTCCCAGGGCCTGGAACAAACACAGTAGTGTGCGGCTGGGCCTGGGGTCGTGGGCAAGGGTCATGCTGGGGCCAAGGTCAGGTCAGTTTGAGGCTCAGCTTAGGTCTGGGGAAGGGACTTAATCTGGGGCTGAGGAACAGATCCCTCGTTCAACAACTGTTGTCTGAGTGCCTTCAGTATCTGGGGATCGGGCCCACTGTGACAGCCCTTTAGCCCCCCGAGTTCAACAGTGGAACCATTAACAATGAGACCTCCTTGACCAAGCTCAAACTTCCAAGGCATAGCTCAACTGAGAGCCAGTAGGGTCACTCTTGGAGGGAGGGATCCGTGACTTGAGGGACCCACAAGCTAGGGGCTTAATGTGGGGTCATAACAGTGTAGAACCTTAGCCATCTGGCTGGATGAATTCAACCCTTCAATTGTGCAGATGGGAGATAAGCCCTGAGTAGGAGGGATTTGCCTTTGTCCTGGGTTCTGCCCATTGCAGATTCCTGGGAGCTGTGCTATGGTCTGAGTGGCTGGCCCTGTCCCACCGTGTGCTCGCTTATCTTCTCACCCCTGCTTCCAGGGCTACAAGATGGATGACCTCCTGACTTCCTACATTAGCCAGATGCTCACAGCCATGAGCAAACAGCGGGGCTCCAGGAGCGGCAAGTGAACAGTCACGGGGAGGTGCTGGTTCCATGCCTGCTCTCGAGGCAGCAGTGGGTTCAGGCCCATCAGCTACCCCTGCAGCTGGGGAAGACTTATGCCATCCCGGCAGCGAGGCTGGGCTGGCCAGCCACCACTGACTATACCAACTGGGCCTCTGATGTTCTTCCAGTGAGGCATCTCTCTGGGATGCAGAACTTCCCTCCATCCACCCCTCTGGCACCTGGGTTGGTCTAATCCTAGTTTGCTGTGGCCTTCCCGGTTGTGAGAGCCTGTGATCCTTAGATGTGTCTCCTGTTTCAGACCAGCCCCACCATGCAACTTCCTTTGACTTTCTGTGTACCACTGGGATAGAGGAATCAAGAGGACAATCTAGCTCTCCATACTTTGAACAACCAAATGTGCATTGAATACTCTGAAACCGAAGGGACTGGATCTGCAGGTGGGATGAGGGAGACAGACCACTTTTCTATATTGCAGTGTGAATGCTGGGCCCCTGCTCAAGTCTACCCTGATCACCTCAGGGCATAAAGCATGTTTCATTCTCTGGCCCGACAGTGTCTTTGCTCAGGGAGGGGAAGTGGAAGGGAAGGGCATGTGGGGTCAGGACAGGGCCTTGCAGGGGAGCAGCCTATATAACGACTTCTTTGGTCTTAACCTGCTGGGGCCAAGCTGGTCTGGGTTTGGGGGTTGGGGAGCTTGAGCTCAAGATGTGCCTTAAGTGGCTTAAAGGGAAGAGCTGAGATTGGGGTGGGTTGGGAGGAAGTGCTGGACATCAGGCTGGGAGGTGAGGACCAAGTGTGCATGAGCAGCTGGGGGTCTAGAGGAGGAATCAGCTTCTGGGCTGTAACTAGGGCCAGTGGAGCCACAGCGGCCCTTGCACCTGCCAGAAACACCTTGGCTCATCAAGACATGTCCAAGAACCCCAAGAACAATGCTGCCTTGGGTTAAATCTTCATGTCCAGTGGGTGCCAGTAAAATGTTACTTTGTGACCAGCATGGGACAACCAGGTTTGGCCATGACTGGAGTAGGGCTGCGGGTGGGGGTTTCAGACAGGGAAGGTGTGACTTAGAGGTGGGGCATCCTCAGACTGTGGCTGGGATGAGCACCTAGAGAAGTGATTGATTGATTGATTGATAGTGGAGAATCCCCTTGTGGGGAGGGTTTGTGATCTGCCCTCGAGGTCCCATACTTCAGCAGAGCCAGGTCCTGCTTCTTTTCATACACTACAGTGTCTGGGTCATCAGCATCTGTGTGTCTGTCTACCCCACAAGGAGTGCTATTCCTGATCTCCTTAGCTGTTTGTTAGTGTAGGACTGGCTGGTGTGT
|
Task1_train_16363
|
With a mutation on Chromosome 11 in gene MYO7A (myosin VIIA), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
|
Pathogenic; Autosomal recessive nonsyndromic hearing loss 2
|
TCTTCGAGGTGAAGGTACACCATGGGCTTCTCAGAGCAGAGGAGGAGGGGAACAGGGCATTGATAAAGCACAGAGACTCCTCCCTAGGACTGTGGGAAAGAGCCATGGCCTTGGACACCTGCCCTGGTGAGGGAAGGAGGGCAGCACCCTCAGCCTTGTCCCAGCTTAGCGTCTTAGCTGGGGTAAGTCCTGGGGACAGAGGGACCAGAAGAAGCTCAGCCTGGCAGTGGAGGCAGACATGTAAACAGGCTGGGGTAATGGAGGATGGCCTGTGTTCTGACACTGGGGAGCCCTCGCCCAGGTGGCAGAGCTCGGGAGGCTCTGCCGGGTGTGAGAAGGCCTCTTAGAGGAGGTGATATCTGAGCTTTCCAGGCAGACCCTGGAAAGAGTGCTCCTGGCAGGGGTCCCACATAGACAAAGGCCTGGAGGTGTGAGAACTCAGGTCTGGGAAGGAAATCCAAGTAGTGAGGGCAGGAGGCGAGAGTGGGCTGTGGAGAGCAGCAGCTTGGCAAGCAGGTGAGAGGCTGGGTTTCCTGCAGGGGTGGCCTGCCTTGGAGGGTTTTGAACACAGGTGACGTGGCCAGAAAGCCTCTCAGGCTGCGGGTGGAGGAGGGGTCTGAGGGGCACAACAGAGGCAGGAGTATGGTGAGGAGGCTGGTGTGAGAGGATACGTATGGTCTTATCACACAGCTAGGATGGGAGGCCTTTTGAGGAGCTTGGCTGTGCGAGGAGAACAGGTAGGTAGCTGGAGGCAGGTGCAGGGTCCAGGAGGCTTTTTAAAGATGGGAGGCCCTTGGGCTGAGAGGGAGGACAAAGCAGAGGATGGCCTGGGGGACCCAGGAAGGGATGTGGGGCAGCACTGAGGGCCCAGCGGAGGTGGAAGCCATAGGTCATGGCAGGGCCGTCAGTACCACATAGGCAACAGGAGAGGCTGACTTTATCCCAGCTGGGGCCAGGCTTCATTCCTGTCCCCAAATGCTTTTCTTGCTCTGGGCCCCCATCTGATGCCTTCTCATCTTTTTTTCTAGCAAACTACGGAGCCAAACTTCCCTGAGATCCTCCTAATTGCCATCAACAAGTATGGGGTCAGCCTCATCGATCCCAAAACGAAGGTGAGCAGGGATAAGGCAGCAAGTGGGGGCGGGCTTCTCTGCCTGAACCACAGACACGGTCCCAGAACGAACCCCACAAGCCCTCCTAGCCACCATCTATCTCTAGACTCATCCACCCATCACGTGGCTTCAAAAGCTGTCAGCGTTTGCTAGGACTTTACCCAACGCTTGCTCCACCAAAATTGCTCTCCTGAAGTTACTAACAAACTCCTTCCTATGGAATGTGAACTCCCTTTAGTACTTGGCCTTTCAGTATCACTGGATGCTCTGCCCATGCAGGTCATGGGGCTGGCTGTGCAGGGGTGACCGTGCATCTGTGTTTCTGGGCCAGAGCAGCCCAGCTGCACACCCAGAGGGTCCGACTGGACAGGTGGTGAAGAGGGCTCGTGACCACCATCTTTCCATTGGCTTCATGCATCACGCATTCCTGGCTGTCCTCTGTGTCTTGGTCATTCCTTCCCGGACCCTTTGGTGCCTGCTCCTGTACACCGTGTTTCCCAAGGTTCTGCCCTGTCTTCTTCTTGGCTCCCTCCTCAAACTCTCCCTGGACCATCTCATTCAGGCCACGGTGTCAGTTCCCTCAGGTCTCCCAATTTCCGAGTTCTGGCCCCAAGTACCCAACAGCCTCCTAGACTTCCTGGGTGTCCAAACCAAGGTGTGGAGGGGGAGGCACCTGCTTCCCACCGCAGCTGGATGGCAGAGCTGGCTTTTCCCTCCGGCCATGGGCTCCTCTGAGGGCCTGAGGCCTTCTGTGAGGGCATGTGTGGGCAAGTGAGGCCACAGGGCCCAGGCCGTGCCTCTCTATGCCCTTTCTGCTCCCCCAGGATATCCTCACCACTCATCCCTTCACCAAGATCTCCAACTGGAGCAGCGGCAACACCTACTTCCACATCACCATTGGGAACTTGGTGCGCGGGAGCAAACTGCTCTGCGAGACGTCACTGGTGAGGGCGCATCCTGCTGGGCCTAGTGGGCTCCCTGCCTTGCCTGCAGCGTAGCCAGCCTCCCAGGGCCTGGAACAAACACAGTAGTGTGCGGCTGGGCCTGGGGTCGTGGGCAAGGGTCATGCTGGGGCCAAGGTCAGGTCAGTTTGAGGCTCAGCTTAGGTCTGGGGAAGGGACTTAATCTGGGGCTGAGGAACAGATCCCTCGTTCAACAACTGTTGTCTGAGTGCCTTCAGTATCTGGGGATCGGGCCCACTGTGACAGCCCTTTAGCCCCCCGAGTTCAACAGTGGAACCATTAACAATGAGACCTCCTTGACCAAGCTCAAACTTCCAAGGCATAGCTCAACTGAGAGCCAGTAGGGTCACTCTTGGAGGGAGGGATCCGTGACTTGAGGGACCCACAAGCTAGGGGCTTAATGTGGGGTCATAACAGTGTAGAACCTTAGCCATCTGGCTGGATGAATTCAACCCTTCAATTGTGCAGATGGGAGATAAGCCCTGAGTAGGAGGGATTTGCCTTTGTCCTGGGTTCTGCCCATTGCAGATTCCTGGGAGCTGTGCTATGGTCTGAGTGGCTGGCCCTGTCCCACCGTGTGCTCGCTTATCTTCTCACCCCTGCTTCCAGGGCTACAAGATGGATGACCTCCTGACTTCCTACATTAGCCAGATGCTCACAGCCATGAGCAAACAGCGGGGCTCCAGGAGCGGCAAGTGAACAGTCACGGGGAGGTGCTGGTTCCATGCCTGCTCTCGAGGCAGCAGTGGGTTCAGGCCCATCAGCTACCCCTGCAGCTGGGGAAGACTTATGCCATCCCGGCAGCGAGGCTGGGCTGGCCAGCCACCACTGACTATACCAACTGGGCCTCTGATGTTCTTCCAGTGAGGCATCTCTCTGGGATGCAGAACTTCCCTCCATCCACCCCTCTGGCACCTGGGTTGGTCTAATCCTAGTTTGCTGTGGCCTTCCCGGTTGTGAGAGCCTGTGATCCTTAGATGTGTCTCCTGTTTCAGACCAGCCCCACCATGCAACTTCCTTTGACTTTCTGTGTACCACTGGGATAGAGGAATCAAGAGGACAATCTAGCTCTCCATACTTTGAACAACCAAATGTGCATTGAATACTCTGAAACCGAAGGGACTGGATCTGCAGGTGGGATGAGGGAGACAGACCACTTTTCTATATTGCAGTGTGAATGCTGGGCCCCTGCTCAAGTCTACCCTGATCACCTCAGGGCATAAAGCATGTTTCATTCTCTGGCCCGACAGTGTCTTTGCTCAGGGAGGGGAAGTGGAAGGGAAGGGCATGTGGGGTCAGGACAGGGCCTTGCAGGGGAGCAGCCTATATAACGACTTCTTTGGTCTTAACCTGCTGGGGCCAAGCTGGTCTGGGTTTGGGGGTTGGGGAGCTTGAGCTCAAGATGTGCCTTAAGTGGCTTAAAGGGAAGAGCTGAGATTGGGGTGGGTTGGGAGGAAGTGCTGGACATCAGGCTGGGAGGTGAGGACCAAGTGTGCATGAGCAGCTGGGGGTCTAGAGGAGGAATCAGCTTCTGGGCTGTAACTAGGGCCAGTGGAGCCACAGCGGCCCTTGCACCTGCCAGAAACACCTTGGCTCATCAAGACATGTCCAAGAACCCCAAGAACAATGCTGCCTTGGGTTAAATCTTCATGTCCAGTGGGTGCCAGTAAAATGTTACTTTGTGACCAGCATGGGACAACCAGGTTTGGCCATGACTGGAGTAGGGCTGCGGGTGGGGGTTTCAGACAGGGAAGGTGTGACTTAGAGGTGGGGCATCCTCAGACTGTGGCTGGGATGAGCACCTAGAGAAGTGATTGATTGATTGATTGATAGTGGAGAATCCCCTTGTGGGGAGGGTTTGTGATCTGCCCTCGAGGTCCCATACTTCAGCAGAGCCAGGTCCTGCTTCTTTTCATACACTACAGTGTCTGGGTCATCAGCATCTGTGTGTCTGTCTACCCCACAAGGAGTGCTATTCCTGATCTCCTTAGCTGTTTGTTAGTGTAGGACTGGCTGGTGTGT
|
TCTTCGAGGTGAAGGTACACCATGGGCTTCTCAGAGCAGAGGAGGAGGGGAACAGGGCATTGATAAAGCACAGAGACTCCTCCCTAGGACTGTGGGAAAGAGCCATGGCCTTGGACACCTGCCCTGGTGAGGGAAGGAGGGCAGCACCCTCAGCCTTGTCCCAGCTTAGCGTCTTAGCTGGGGTAAGTCCTGGGGACAGAGGGACCAGAAGAAGCTCAGCCTGGCAGTGGAGGCAGACATGTAAACAGGCTGGGGTAATGGAGGATGGCCTGTGTTCTGACACTGGGGAGCCCTCGCCCAGGTGGCAGAGCTCGGGAGGCTCTGCCGGGTGTGAGAAGGCCTCTTAGAGGAGGTGATATCTGAGCTTTCCAGGCAGACCCTGGAAAGAGTGCTCCTGGCAGGGGTCCCACATAGACAAAGGCCTGGAGGTGTGAGAACTCAGGTCTGGGAAGGAAATCCAAGTAGTGAGGGCAGGAGGCGAGAGTGGGCTGTGGAGAGCAGCAGCTTGGCAAGCAGGTGAGAGGCTGGGTTTCCTGCAGGGGTGGCCTGCCTTGGAGGGTTTTGAACACAGGTGACGTGGCCAGAAAGCCTCTCAGGCTGCGGGTGGAGGAGGGGTCTGAGGGGCACAACAGAGGCAGGAGTATGGTGAGGAGGCTGGTGTGAGAGGATACGTATGGTCTTATCACACAGCTAGGATGGGAGGCCTTTTGAGGAGCTTGGCTGTGCGAGGAGAACAGGTAGGTAGCTGGAGGCAGGTGCAGGGTCCAGGAGGCTTTTTAAAGATGGGAGGCCCTTGGGCTGAGAGGGAGGACAAAGCAGAGGATGGCCTGGGGGACCCAGGAAGGGATGTGGGGCAGCACTGAGGGCCCAGCGGAGGTGGAAGCCATAGGTCATGGCAGGGCCGTCAGTACCACATAGGCAACAGGAGAGGCTGACTTTATCCCAGCTGGGGCCAGGCTTCATTCCTGTCCCCAAATGCTTTTCTTGCTCTGGGCCCCCATCTGATGCCTTCTCATCTTTTTTTCTAGCAAACTACGGAGCCAAACTTCCCTGAGATCCTCCTAATTGCCATCAACAAGTATGGGGTCAGCCTCATCGATCCCAAAACGAAGGTGAGCAGGGATAAGGCAGCAAGTGGGGGCGGGCTTCTCTGCCTGAACCACAGACACGGTCCCAGAACGAACCCCACAAGCCCTCCTAGCCACCATCTATCTCTAGACTCATCCACCCATCACGTGGCTTCAAAAGCTGTCAGCGTTTGCTAGGACTTTACCCAACGCTTGCTCCACCAAAATTGCTCTCCTGAAGTTACTAACAAACTCCTTCCTATGGAATGTGAACTCCCTTTAGTACTTGGCCTTTCAGTATCACTGGATGCTCTGCCCATGCAGGTCATGGGGCTGGCTGTGCAGGGGTGACCGTGCATCTGTGTTTCTGGGCCAGAGCAGCCCAGCTGCACACCCAGAGGGTCCGACTGGACAGGTGGTGAAGAGGGCTCGTGACCACCATCTTTCCATTGGCTTCATGCATCACGCATTCCTGGCTGTCCTCTGTGTCTTGGTCATTCCTTCCCGGACCCTTTGGTGCCTGCTCCTGTACACCGTGTTTCCCAAGGTTCTGCCCTGTCTTCTTCTTGGCTCCCTCCTCAAACTCTCCCTGGACCATCTCATTCAGGCCACGGTGTCAGTTCCCTCAGGTCTCCCAATTTCCGAGTTCTGGCCCCAAGTACCCAACAGCCTCCTAGACTTCCTGGGTGTCCAAACCAAGGTGTGGAGGGGGAGGCACCTGCTTCCCACCGCAGCTGGATGGCAGAGCTGGCTTTTCCCTCCGGCCATGGGCTCCTCTGAGGGCCTGAGGCCTTCTGTGAGGGCATGTGTGGGCAAGTGAGGCCACAGGGCCCAGGCCGTGCCTCTCTATGCCCTTTCTGCTCCCCCAGGATATCCTCACCACTCATCCCTTCACCAAGATCTCCAACTGGAGCAGCGGCAACACCTACTTCCACATCACCATTGGGAACTTGGTGCGCGGGAGCAAACTGCTCTGCGAGATGTCACTGGTGAGGGCGCATCCTGCTGGGCCTAGTGGGCTCCCTGCCTTGCCTGCAGCGTAGCCAGCCTCCCAGGGCCTGGAACAAACACAGTAGTGTGCGGCTGGGCCTGGGGTCGTGGGCAAGGGTCATGCTGGGGCCAAGGTCAGGTCAGTTTGAGGCTCAGCTTAGGTCTGGGGAAGGGACTTAATCTGGGGCTGAGGAACAGATCCCTCGTTCAACAACTGTTGTCTGAGTGCCTTCAGTATCTGGGGATCGGGCCCACTGTGACAGCCCTTTAGCCCCCCGAGTTCAACAGTGGAACCATTAACAATGAGACCTCCTTGACCAAGCTCAAACTTCCAAGGCATAGCTCAACTGAGAGCCAGTAGGGTCACTCTTGGAGGGAGGGATCCGTGACTTGAGGGACCCACAAGCTAGGGGCTTAATGTGGGGTCATAACAGTGTAGAACCTTAGCCATCTGGCTGGATGAATTCAACCCTTCAATTGTGCAGATGGGAGATAAGCCCTGAGTAGGAGGGATTTGCCTTTGTCCTGGGTTCTGCCCATTGCAGATTCCTGGGAGCTGTGCTATGGTCTGAGTGGCTGGCCCTGTCCCACCGTGTGCTCGCTTATCTTCTCACCCCTGCTTCCAGGGCTACAAGATGGATGACCTCCTGACTTCCTACATTAGCCAGATGCTCACAGCCATGAGCAAACAGCGGGGCTCCAGGAGCGGCAAGTGAACAGTCACGGGGAGGTGCTGGTTCCATGCCTGCTCTCGAGGCAGCAGTGGGTTCAGGCCCATCAGCTACCCCTGCAGCTGGGGAAGACTTATGCCATCCCGGCAGCGAGGCTGGGCTGGCCAGCCACCACTGACTATACCAACTGGGCCTCTGATGTTCTTCCAGTGAGGCATCTCTCTGGGATGCAGAACTTCCCTCCATCCACCCCTCTGGCACCTGGGTTGGTCTAATCCTAGTTTGCTGTGGCCTTCCCGGTTGTGAGAGCCTGTGATCCTTAGATGTGTCTCCTGTTTCAGACCAGCCCCACCATGCAACTTCCTTTGACTTTCTGTGTACCACTGGGATAGAGGAATCAAGAGGACAATCTAGCTCTCCATACTTTGAACAACCAAATGTGCATTGAATACTCTGAAACCGAAGGGACTGGATCTGCAGGTGGGATGAGGGAGACAGACCACTTTTCTATATTGCAGTGTGAATGCTGGGCCCCTGCTCAAGTCTACCCTGATCACCTCAGGGCATAAAGCATGTTTCATTCTCTGGCCCGACAGTGTCTTTGCTCAGGGAGGGGAAGTGGAAGGGAAGGGCATGTGGGGTCAGGACAGGGCCTTGCAGGGGAGCAGCCTATATAACGACTTCTTTGGTCTTAACCTGCTGGGGCCAAGCTGGTCTGGGTTTGGGGGTTGGGGAGCTTGAGCTCAAGATGTGCCTTAAGTGGCTTAAAGGGAAGAGCTGAGATTGGGGTGGGTTGGGAGGAAGTGCTGGACATCAGGCTGGGAGGTGAGGACCAAGTGTGCATGAGCAGCTGGGGGTCTAGAGGAGGAATCAGCTTCTGGGCTGTAACTAGGGCCAGTGGAGCCACAGCGGCCCTTGCACCTGCCAGAAACACCTTGGCTCATCAAGACATGTCCAAGAACCCCAAGAACAATGCTGCCTTGGGTTAAATCTTCATGTCCAGTGGGTGCCAGTAAAATGTTACTTTGTGACCAGCATGGGACAACCAGGTTTGGCCATGACTGGAGTAGGGCTGCGGGTGGGGGTTTCAGACAGGGAAGGTGTGACTTAGAGGTGGGGCATCCTCAGACTGTGGCTGGGATGAGCACCTAGAGAAGTGATTGATTGATTGATTGATAGTGGAGAATCCCCTTGTGGGGAGGGTTTGTGATCTGCCCTCGAGGTCCCATACTTCAGCAGAGCCAGGTCCTGCTTCTTTTCATACACTACAGTGTCTGGGTCATCAGCATCTGTGTGTCTGTCTACCCCACAAGGAGTGCTATTCCTGATCTCCTTAGCTGTTTGTTAGTGTAGGACTGGCTGGTGTGT
|
Task1_train_16364
|
This variant affects the gene PAK1 (p21 (RAC1) activated kinase 1) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
|
Pathogenic; Intellectual developmental disorder with macrocephaly, seizures, and speech delay
|
CTCCAGCAAAAGAATCACATGAGGTAATTCACATGTGAGCATATACAAATGAGGTAGTATTATCATAACTAATAGTATAAGAGGATGGTAAATAGGGAAAGGAGAGATATGACACTTAAAAAAACCTATACCAAATATGCAATTTTGCCTAGAGTTGGCCCTAGTCTTCAACTTATAGAAAATTAAAATTCTTGCATACATATATATACATGTGCACAAATTTATACATACAAAAGTAGATGTACACACGTATCTGTACATATACACTCAATATTATTCATATGTGCATGCATGAATGAACATACACATAATTACCTGAATGTTTATATTTATACATATGTTCGTTCATGAATACCTGAGTGGACTTTATCTTTGTTCATGAATACTTAAGTAGGCTTTAATTCCAAATATATGCAAACCCACAGGGCTATGTCTCTGTTTACATACACATTTACATGCCACTAGCACATATTTACATACATACATGCAGGAAAGATCCTTGCAAAGACTTGGCCACTGAGGTTTTCAAAGACAGCCTCTAACCTGATGTTTCCATGACAAGTTCCTTAAACACAAACTCTAATTTCCTGACTAGAAAACTTTCCCACTCAGTAGCCCTCCAGCCCAATTCCTCCTTGAAATGACTCAGTCCCTCAATGGAGTAAGTGAGACAGACTCAGCGGGGCCAGACGAGAGGAAGGAAATACTGCTGGGCACATGCATGGCCCTCTCCTGGGCACCACCATAGCAGCATGAGTGAAGCTGCAGCCTGTCATCTCCACCATCTGTGCCCTTGAAACAAGCCAGATACTGGCTGGGGAAAGCATCCTTCAAAATTCACTAGTTCATCCTGGTTCTCACCTTCCCAACAATACTGCCATTTGAAGGAGGCAACATGAGTAAAGAGCCTAGAAATTAAAAGATTAGCCCACTATTAATTTAGCATATTAGAAAGGCCTTCTTTGGTTCTCACACCTGCAAAACAATGGAAAGCTGGTCCGCTGTGGAAGGAGAGCCTCCAAATAACATTATTAGGGGCAAGTAGTAAATTCAAAAGGTGATGTTACAGGAATTAGGAGACCTGGGTTCTAATCCCAATTCTGCTATTAAAAACACTCTGAAAAATATAGTCCCTTCTACCGAGGGTACATCTAAAGAAACTTATTCTTTATTGGCCTGTTTTTCATTTAACTAATAAAAATTAGTTCCCTGAGGAAGACATACATTAATGTTATTAAATAACTAATAATAATATTAACAATAATGATGACAATGATAGCTACATTTCTATGGTGATGTTTTACAACTTATAAAGAACTCTCACATCAATCAGCTCACTTATTTCTCACTATAACCTCTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGTGATCCTTGCTCACTGCAACTCCACCTCCCAGGCTCAAGTGATCCCTTCTCCTCAGCTTCCCAAGTAGCTGGGACCACAGGGATGCACCACCACACCCGGCTAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCACGTTGCCCAGACTGGTCTCGAACTCCTGACCTCAAGCGATCCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGGCACTGCGCCCAACCATTTCTCACTACAGCCTCTTGAGATAGGAATTCCCATTTTGAGATGCAAAGAAATGAAGTGACTGGTAGAACCTAGTAAAGGTCAGAATCTAGACCTTCTAGCATAAAACCTGTGTTCTCTCTATATAATACCATGCTATTTTTAAAAAAACGTGTGCAGTGACAGAGTGAAGACTCAAGTTTGATGCAAAGTCCATCATCTTGGCTGTCAAATTCCAAAATTCCACGTTAAAGTGCCACTTCCACTCTTTCCACTACTTTCTTCTCTCATCCCAGACTAATAGGCATGTGAGCTTTCCCACCCAGATTAAAACCATCTCTTGCTGAGACTGCCCTGGACGCAGTTCTCATACCTGTAAAGCTCATGTATTTCTGGCTGTTGGATGTCTTCTTCGAGTTGTAAAACTCCAACACATCCAGAACAGCCTGCGGGTTTTTCTTCTGCTCCGACTTAGTGATATTTGATGTCTGAAGCAAGCGGGCCCACTGCTCTGGCATTCCCTGTAAGAGAGACATGCAAGACTAACAGGAAGGCACAGTCACAGGGGAGCCTGAAAGAACATCAGAGCTAACTTTGACACTTGCTAGCAGCAAAAGATGCATTTATTAGTCATTCCTTTCTCTCTATACTCTCAGAGTTTACACAAGCCTCTTTTATAATATCTTTCTCATTGAATTAGTCATTTCTTAAGATGTCTGCTCCTTCACCAGGCTATACCTCCAGGATGGTAGGATAGGATGTTGTTCCTGCATGATCAGTGCCCCACACAGAGCCTGCTACCAAGCCTACCATTTAACAGAGGTTTATTATTTAAGGAACGGAGATGGAAAGGCTTCTCTGGATACAATTTTGGCGATGAAAGTGTCCCACTCATGAACGTGAGAAAATTGTAATCAGGGTCTCAGGCAAAGATAGAAGCATCAGGAAGATGAGAAAGGGTTGAATCTAACAGTGCACAGCCAGAACTCTAAAAGACTAAAGACCTTTCTGTGACCCAGGACTTACCGTAAACTCCCCTGTGACAGCATCAAAACCGACATGAATTGTGTGTTCAAAATCTGAAGGGAGAGAAATCTCTGGCCGCTCTTTCTCTTTCTTTTTATTTGCTGCAAGAGAAACAGGCAAAAGGAAATAAAAAACAGGAACATTATTGTTTTTAGGCTTATTTTAGCTCTTTATTGAGCTGTAGTCTCCTTGAGAGGGCAAAGTCTATCTATTAATATTTCACATATGTAGAAGAGCTCAGTTACGGATCTGGATTGGAGCAGATACTCAATGCATGTTTAAAGACTTAATTTCTTGTTGAACTAAAGTACGGGAGGTGGCCGGGCACGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATTGCTTGAGTCCAGGAGTTCAAGACCAGCCTAGGCAACATGGCAAAACCCTGTCTCTGCAAAAATACAAAAATTAGCTAGACATGGTGGTGCATGCCTGTAATGCCAGCTACTTGTGAAGCTGAGGCAAGAGGATCATTTGAGCCCAGGATGTAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCATTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAAAAAACAAAAAACAATAAAATAAAGGGAGAGGCAAAAAGATCGTCTGTCAGAGTTAACAGTTCTGGTTTTACCAGTAACTAGCCAGTTGATATAGAGTAAGTCATCTTTTTTGTGAAGCCCTCCTTGATCTCTAGGCTGGGTGGTTCTTTACCCTCTCTGTTCCCACAGCACCCAATATATGTAATAGTAATTGACTATTATAAGTGTTTATCTTCCATACCAGACTGAATTCTAAGTGCAGAGGCCATGTCAAATTAATCACAGCTTCCCAGAGGCTAGCACACACCTGGACAAAGTAGGTGCTCAGACAGTAAGTGAAGAAAGGAAAAAATGACCAGACATTTAACTCAACTGGGCAAGGAGTTTAAAGAATCTGCCTAAGACACAAAAATTCTCTCCAGGGCAGGAATAAATGTTCATTTCAGCAGCTCTGGCCTGACTTTCACAACACTTGTTACCCAGCACCTGTGAACCTTATTTTAAAACCCTGCTGTCTGGGAGCTCAACACACTAACCAAAAGAAATTCTGAAGTTCTAACACCTCCACAGACCCAGCAAAACCCTGATAAAAGGTAGCAAAATGAGAAGGAAAAAACAAAAAGGTCTAGAGTTCAAGCCAGTTTCACCTCTACCTCACCACAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGAGAGAGAGAGAGAAAGAGAGACCAGGATCTCTGCTTTCTCATCTAAACAAGGGAGAGGATGAGCTAGATGATCTTAAGGGTCCCTCAAGCACCTACATTCTGTGAATCTATGAAAACAAGAAACTATGCTTTCTCAAAGCTCTGCAGTTAAGATTCCT
|
CTCCAGCAAAAGAATCACATGAGGTAATTCACATGTGAGCATATACAAATGAGGTAGTATTATCATAACTAATAGTATAAGAGGATGGTAAATAGGGAAAGGAGAGATATGACACTTAAAAAAACCTATACCAAATATGCAATTTTGCCTAGAGTTGGCCCTAGTCTTCAACTTATAGAAAATTAAAATTCTTGCATACATATATATACATGTGCACAAATTTATACATACAAAAGTAGATGTACACACGTATCTGTACATATACACTCAATATTATTCATATGTGCATGCATGAATGAACATACACATAATTACCTGAATGTTTATATTTATACATATGTTCGTTCATGAATACCTGAGTGGACTTTATCTTTGTTCATGAATACTTAAGTAGGCTTTAATTCCAAATATATGCAAACCCACAGGGCTATGTCTCTGTTTACATACACATTTACATGCCACTAGCACATATTTACATACATACATGCAGGAAAGATCCTTGCAAAGACTTGGCCACTGAGGTTTTCAAAGACAGCCTCTAACCTGATGTTTCCATGACAAGTTCCTTAAACACAAACTCTAATTTCCTGACTAGAAAACTTTCCCACTCAGTAGCCCTCCAGCCCAATTCCTCCTTGAAATGACTCAGTCCCTCAATGGAGTAAGTGAGACAGACTCAGCGGGGCCAGACGAGAGGAAGGAAATACTGCTGGGCACATGCATGGCCCTCTCCTGGGCACCACCATAGCAGCATGAGTGAAGCTGCAGCCTGTCATCTCCACCATCTGTGCCCTTGAAACAAGCCAGATACTGGCTGGGGAAAGCATCCTTCAAAATTCACTAGTTCATCCTGGTTCTCACCTTCCCAACAATACTGCCATTTGAAGGAGGCAACATGAGTAAAGAGCCTAGAAATTAAAAGATTAGCCCACTATTAATTTAGCATATTAGAAAGGCCTTCTTTGGTTCTCACACCTGCAAAACAATGGAAAGCTGGTCCGCTGTGGAAGGAGAGCCTCCAAATAACATTATTAGGGGCAAGTAGTAAATTCAAAAGGTGATGTTACAGGAATTAGGAGACCTGGGTTCTAATCCCAATTCTGCTATTAAAAACACTCTGAAAAATATAGTCCCTTCTACCGAGGGTACATCTAAAGAAACTTATTCTTTATTGGCCTGTTTTTCATTTAACTAATAAAAATTAGTTCCCTGAGGAAGACATACATTAATGTTATTAAATAACTAATAATAATATTAACAATAATGATGACAATGATAGCTACATTTCTATGGTGATGTTTTACAACTTATAAAGAACTCTCACATCAATCAGCTCACTTATTTCTCACTATAACCTCTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGTGATCCTTGCTCACTGCAACTCCACCTCCCAGGCTCAAGTGATCCCTTCTCCTCAGCTTCCCAAGTAGCTGGGACCACAGGGATGCACCACCACACCCGGCTAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCACGTTGCCCAGACTGGTCTCGAACTCCTGACCTCAAGCGATCCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGGCACTGCGCCCAACCATTTCTCACTACAGCCTCTTGAGATAGGAATTCCCATTTTGAGATGCAAAGAAATGAAGTGACTGGTAGAACCTAGTAAAGGTCAGAATCTAGACCTTCTAGCATAAAACCTGTGTTCTCTCTATATAATACCATGCTATTTTTAAAAAAACGTGTGCAGTGACAGAGTGAAGACTCAAGTTTGATGCAAAGTCCATCATCTTGGCTGTCAAATTCCAAAATTCCACGTTAAAGTGCCACTTCCACTCTTTCCACTACTTTCTTCTCTCATCCCAGACTAATAGGCATGTGAGCTTTCCCACCCAGATTAAAACCATCTCTTGCTGAGACTGCCCTGGACGCAGTTCTCATACCTGTAAAGCTCATGTATTTCTGGCTGTTGGATGTCTTCTTCGAGTTGTTAAACTCCAACACATCCAGAACAGCCTGCGGGTTTTTCTTCTGCTCCGACTTAGTGATATTTGATGTCTGAAGCAAGCGGGCCCACTGCTCTGGCATTCCCTGTAAGAGAGACATGCAAGACTAACAGGAAGGCACAGTCACAGGGGAGCCTGAAAGAACATCAGAGCTAACTTTGACACTTGCTAGCAGCAAAAGATGCATTTATTAGTCATTCCTTTCTCTCTATACTCTCAGAGTTTACACAAGCCTCTTTTATAATATCTTTCTCATTGAATTAGTCATTTCTTAAGATGTCTGCTCCTTCACCAGGCTATACCTCCAGGATGGTAGGATAGGATGTTGTTCCTGCATGATCAGTGCCCCACACAGAGCCTGCTACCAAGCCTACCATTTAACAGAGGTTTATTATTTAAGGAACGGAGATGGAAAGGCTTCTCTGGATACAATTTTGGCGATGAAAGTGTCCCACTCATGAACGTGAGAAAATTGTAATCAGGGTCTCAGGCAAAGATAGAAGCATCAGGAAGATGAGAAAGGGTTGAATCTAACAGTGCACAGCCAGAACTCTAAAAGACTAAAGACCTTTCTGTGACCCAGGACTTACCGTAAACTCCCCTGTGACAGCATCAAAACCGACATGAATTGTGTGTTCAAAATCTGAAGGGAGAGAAATCTCTGGCCGCTCTTTCTCTTTCTTTTTATTTGCTGCAAGAGAAACAGGCAAAAGGAAATAAAAAACAGGAACATTATTGTTTTTAGGCTTATTTTAGCTCTTTATTGAGCTGTAGTCTCCTTGAGAGGGCAAAGTCTATCTATTAATATTTCACATATGTAGAAGAGCTCAGTTACGGATCTGGATTGGAGCAGATACTCAATGCATGTTTAAAGACTTAATTTCTTGTTGAACTAAAGTACGGGAGGTGGCCGGGCACGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATTGCTTGAGTCCAGGAGTTCAAGACCAGCCTAGGCAACATGGCAAAACCCTGTCTCTGCAAAAATACAAAAATTAGCTAGACATGGTGGTGCATGCCTGTAATGCCAGCTACTTGTGAAGCTGAGGCAAGAGGATCATTTGAGCCCAGGATGTAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCATTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAAAAAACAAAAAACAATAAAATAAAGGGAGAGGCAAAAAGATCGTCTGTCAGAGTTAACAGTTCTGGTTTTACCAGTAACTAGCCAGTTGATATAGAGTAAGTCATCTTTTTTGTGAAGCCCTCCTTGATCTCTAGGCTGGGTGGTTCTTTACCCTCTCTGTTCCCACAGCACCCAATATATGTAATAGTAATTGACTATTATAAGTGTTTATCTTCCATACCAGACTGAATTCTAAGTGCAGAGGCCATGTCAAATTAATCACAGCTTCCCAGAGGCTAGCACACACCTGGACAAAGTAGGTGCTCAGACAGTAAGTGAAGAAAGGAAAAAATGACCAGACATTTAACTCAACTGGGCAAGGAGTTTAAAGAATCTGCCTAAGACACAAAAATTCTCTCCAGGGCAGGAATAAATGTTCATTTCAGCAGCTCTGGCCTGACTTTCACAACACTTGTTACCCAGCACCTGTGAACCTTATTTTAAAACCCTGCTGTCTGGGAGCTCAACACACTAACCAAAAGAAATTCTGAAGTTCTAACACCTCCACAGACCCAGCAAAACCCTGATAAAAGGTAGCAAAATGAGAAGGAAAAAACAAAAAGGTCTAGAGTTCAAGCCAGTTTCACCTCTACCTCACCACAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGAGAGAGAGAGAGAAAGAGAGACCAGGATCTCTGCTTTCTCATCTAAACAAGGGAGAGGATGAGCTAGATGATCTTAAGGGTCCCTCAAGCACCTACATTCTGTGAATCTATGAAAACAAGAAACTATGCTTTCTCAAAGCTCTGCAGTTAAGATTCCT
|
Task1_train_16365
|
A genetic alteration is present in PAK1 (p21 (RAC1) activated kinase 1) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; PAK1-related disorder
|
CACATGTGAGCATATACAAATGAGGTAGTATTATCATAACTAATAGTATAAGAGGATGGTAAATAGGGAAAGGAGAGATATGACACTTAAAAAAACCTATACCAAATATGCAATTTTGCCTAGAGTTGGCCCTAGTCTTCAACTTATAGAAAATTAAAATTCTTGCATACATATATATACATGTGCACAAATTTATACATACAAAAGTAGATGTACACACGTATCTGTACATATACACTCAATATTATTCATATGTGCATGCATGAATGAACATACACATAATTACCTGAATGTTTATATTTATACATATGTTCGTTCATGAATACCTGAGTGGACTTTATCTTTGTTCATGAATACTTAAGTAGGCTTTAATTCCAAATATATGCAAACCCACAGGGCTATGTCTCTGTTTACATACACATTTACATGCCACTAGCACATATTTACATACATACATGCAGGAAAGATCCTTGCAAAGACTTGGCCACTGAGGTTTTCAAAGACAGCCTCTAACCTGATGTTTCCATGACAAGTTCCTTAAACACAAACTCTAATTTCCTGACTAGAAAACTTTCCCACTCAGTAGCCCTCCAGCCCAATTCCTCCTTGAAATGACTCAGTCCCTCAATGGAGTAAGTGAGACAGACTCAGCGGGGCCAGACGAGAGGAAGGAAATACTGCTGGGCACATGCATGGCCCTCTCCTGGGCACCACCATAGCAGCATGAGTGAAGCTGCAGCCTGTCATCTCCACCATCTGTGCCCTTGAAACAAGCCAGATACTGGCTGGGGAAAGCATCCTTCAAAATTCACTAGTTCATCCTGGTTCTCACCTTCCCAACAATACTGCCATTTGAAGGAGGCAACATGAGTAAAGAGCCTAGAAATTAAAAGATTAGCCCACTATTAATTTAGCATATTAGAAAGGCCTTCTTTGGTTCTCACACCTGCAAAACAATGGAAAGCTGGTCCGCTGTGGAAGGAGAGCCTCCAAATAACATTATTAGGGGCAAGTAGTAAATTCAAAAGGTGATGTTACAGGAATTAGGAGACCTGGGTTCTAATCCCAATTCTGCTATTAAAAACACTCTGAAAAATATAGTCCCTTCTACCGAGGGTACATCTAAAGAAACTTATTCTTTATTGGCCTGTTTTTCATTTAACTAATAAAAATTAGTTCCCTGAGGAAGACATACATTAATGTTATTAAATAACTAATAATAATATTAACAATAATGATGACAATGATAGCTACATTTCTATGGTGATGTTTTACAACTTATAAAGAACTCTCACATCAATCAGCTCACTTATTTCTCACTATAACCTCTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGTGATCCTTGCTCACTGCAACTCCACCTCCCAGGCTCAAGTGATCCCTTCTCCTCAGCTTCCCAAGTAGCTGGGACCACAGGGATGCACCACCACACCCGGCTAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCACGTTGCCCAGACTGGTCTCGAACTCCTGACCTCAAGCGATCCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGGCACTGCGCCCAACCATTTCTCACTACAGCCTCTTGAGATAGGAATTCCCATTTTGAGATGCAAAGAAATGAAGTGACTGGTAGAACCTAGTAAAGGTCAGAATCTAGACCTTCTAGCATAAAACCTGTGTTCTCTCTATATAATACCATGCTATTTTTAAAAAAACGTGTGCAGTGACAGAGTGAAGACTCAAGTTTGATGCAAAGTCCATCATCTTGGCTGTCAAATTCCAAAATTCCACGTTAAAGTGCCACTTCCACTCTTTCCACTACTTTCTTCTCTCATCCCAGACTAATAGGCATGTGAGCTTTCCCACCCAGATTAAAACCATCTCTTGCTGAGACTGCCCTGGACGCAGTTCTCATACCTGTAAAGCTCATGTATTTCTGGCTGTTGGATGTCTTCTTCGAGTTGTAAAACTCCAACACATCCAGAACAGCCTGCGGGTTTTTCTTCTGCTCCGACTTAGTGATATTTGATGTCTGAAGCAAGCGGGCCCACTGCTCTGGCATTCCCTGTAAGAGAGACATGCAAGACTAACAGGAAGGCACAGTCACAGGGGAGCCTGAAAGAACATCAGAGCTAACTTTGACACTTGCTAGCAGCAAAAGATGCATTTATTAGTCATTCCTTTCTCTCTATACTCTCAGAGTTTACACAAGCCTCTTTTATAATATCTTTCTCATTGAATTAGTCATTTCTTAAGATGTCTGCTCCTTCACCAGGCTATACCTCCAGGATGGTAGGATAGGATGTTGTTCCTGCATGATCAGTGCCCCACACAGAGCCTGCTACCAAGCCTACCATTTAACAGAGGTTTATTATTTAAGGAACGGAGATGGAAAGGCTTCTCTGGATACAATTTTGGCGATGAAAGTGTCCCACTCATGAACGTGAGAAAATTGTAATCAGGGTCTCAGGCAAAGATAGAAGCATCAGGAAGATGAGAAAGGGTTGAATCTAACAGTGCACAGCCAGAACTCTAAAAGACTAAAGACCTTTCTGTGACCCAGGACTTACCGTAAACTCCCCTGTGACAGCATCAAAACCGACATGAATTGTGTGTTCAAAATCTGAAGGGAGAGAAATCTCTGGCCGCTCTTTCTCTTTCTTTTTATTTGCTGCAAGAGAAACAGGCAAAAGGAAATAAAAAACAGGAACATTATTGTTTTTAGGCTTATTTTAGCTCTTTATTGAGCTGTAGTCTCCTTGAGAGGGCAAAGTCTATCTATTAATATTTCACATATGTAGAAGAGCTCAGTTACGGATCTGGATTGGAGCAGATACTCAATGCATGTTTAAAGACTTAATTTCTTGTTGAACTAAAGTACGGGAGGTGGCCGGGCACGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATTGCTTGAGTCCAGGAGTTCAAGACCAGCCTAGGCAACATGGCAAAACCCTGTCTCTGCAAAAATACAAAAATTAGCTAGACATGGTGGTGCATGCCTGTAATGCCAGCTACTTGTGAAGCTGAGGCAAGAGGATCATTTGAGCCCAGGATGTAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCATTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAAAAAACAAAAAACAATAAAATAAAGGGAGAGGCAAAAAGATCGTCTGTCAGAGTTAACAGTTCTGGTTTTACCAGTAACTAGCCAGTTGATATAGAGTAAGTCATCTTTTTTGTGAAGCCCTCCTTGATCTCTAGGCTGGGTGGTTCTTTACCCTCTCTGTTCCCACAGCACCCAATATATGTAATAGTAATTGACTATTATAAGTGTTTATCTTCCATACCAGACTGAATTCTAAGTGCAGAGGCCATGTCAAATTAATCACAGCTTCCCAGAGGCTAGCACACACCTGGACAAAGTAGGTGCTCAGACAGTAAGTGAAGAAAGGAAAAAATGACCAGACATTTAACTCAACTGGGCAAGGAGTTTAAAGAATCTGCCTAAGACACAAAAATTCTCTCCAGGGCAGGAATAAATGTTCATTTCAGCAGCTCTGGCCTGACTTTCACAACACTTGTTACCCAGCACCTGTGAACCTTATTTTAAAACCCTGCTGTCTGGGAGCTCAACACACTAACCAAAAGAAATTCTGAAGTTCTAACACCTCCACAGACCCAGCAAAACCCTGATAAAAGGTAGCAAAATGAGAAGGAAAAAACAAAAAGGTCTAGAGTTCAAGCCAGTTTCACCTCTACCTCACCACAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGAGAGAGAGAGAGAAAGAGAGACCAGGATCTCTGCTTTCTCATCTAAACAAGGGAGAGGATGAGCTAGATGATCTTAAGGGTCCCTCAAGCACCTACATTCTGTGAATCTATGAAAACAAGAAACTATGCTTTCTCAAAGCTCTGCAGTTAAGATTCCTTCCTGAGATGGCATCCCACAGTTTTAAAT
|
CACATGTGAGCATATACAAATGAGGTAGTATTATCATAACTAATAGTATAAGAGGATGGTAAATAGGGAAAGGAGAGATATGACACTTAAAAAAACCTATACCAAATATGCAATTTTGCCTAGAGTTGGCCCTAGTCTTCAACTTATAGAAAATTAAAATTCTTGCATACATATATATACATGTGCACAAATTTATACATACAAAAGTAGATGTACACACGTATCTGTACATATACACTCAATATTATTCATATGTGCATGCATGAATGAACATACACATAATTACCTGAATGTTTATATTTATACATATGTTCGTTCATGAATACCTGAGTGGACTTTATCTTTGTTCATGAATACTTAAGTAGGCTTTAATTCCAAATATATGCAAACCCACAGGGCTATGTCTCTGTTTACATACACATTTACATGCCACTAGCACATATTTACATACATACATGCAGGAAAGATCCTTGCAAAGACTTGGCCACTGAGGTTTTCAAAGACAGCCTCTAACCTGATGTTTCCATGACAAGTTCCTTAAACACAAACTCTAATTTCCTGACTAGAAAACTTTCCCACTCAGTAGCCCTCCAGCCCAATTCCTCCTTGAAATGACTCAGTCCCTCAATGGAGTAAGTGAGACAGACTCAGCGGGGCCAGACGAGAGGAAGGAAATACTGCTGGGCACATGCATGGCCCTCTCCTGGGCACCACCATAGCAGCATGAGTGAAGCTGCAGCCTGTCATCTCCACCATCTGTGCCCTTGAAACAAGCCAGATACTGGCTGGGGAAAGCATCCTTCAAAATTCACTAGTTCATCCTGGTTCTCACCTTCCCAACAATACTGCCATTTGAAGGAGGCAACATGAGTAAAGAGCCTAGAAATTAAAAGATTAGCCCACTATTAATTTAGCATATTAGAAAGGCCTTCTTTGGTTCTCACACCTGCAAAACAATGGAAAGCTGGTCCGCTGTGGAAGGAGAGCCTCCAAATAACATTATTAGGGGCAAGTAGTAAATTCAAAAGGTGATGTTACAGGAATTAGGAGACCTGGGTTCTAATCCCAATTCTGCTATTAAAAACACTCTGAAAAATATAGTCCCTTCTACCGAGGGTACATCTAAAGAAACTTATTCTTTATTGGCCTGTTTTTCATTTAACTAATAAAAATTAGTTCCCTGAGGAAGACATACATTAATGTTATTAAATAACTAATAATAATATTAACAATAATGATGACAATGATAGCTACATTTCTATGGTGATGTTTTACAACTTATAAAGAACTCTCACATCAATCAGCTCACTTATTTCTCACTATAACCTCTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGTGATCCTTGCTCACTGCAACTCCACCTCCCAGGCTCAAGTGATCCCTTCTCCTCAGCTTCCCAAGTAGCTGGGACCACAGGGATGCACCACCACACCCGGCTAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCACGTTGCCCAGACTGGTCTCGAACTCCTGACCTCAAGCGATCCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGGCACTGCGCCCAACCATTTCTCACTACAGCCTCTTGAGATAGGAATTCCCATTTTGAGATGCAAAGAAATGAAGTGACTGGTAGAACCTAGTAAAGGTCAGAATCTAGACCTTCTAGCATAAAACCTGTGTTCTCTCTATATAATACCATGCTATTTTTAAAAAAACGTGTGCAGTGACAGAGTGAAGACTCAAGTTTGATGCAAAGTCCATCATCTTGGCTGTCAAATTCCAAAATTCCACGTTAAAGTGCCACTTCCACTCTTTCCACTACTTTCTTCTCTCATCCCAGACTAATAGGCATGTGAGCTTTCCCACCCAGATTAAAACCATCTCTTGCTGAGACTGCCCTGGACGCAGTTCTCATACCTGTAAAGCTCATGTATTTCTGGCTGTTGGATGTCTTCTTCGAGTTGTAAAACTCCAACACATCCAGAACAGCCTGCAGGTTTTTCTTCTGCTCCGACTTAGTGATATTTGATGTCTGAAGCAAGCGGGCCCACTGCTCTGGCATTCCCTGTAAGAGAGACATGCAAGACTAACAGGAAGGCACAGTCACAGGGGAGCCTGAAAGAACATCAGAGCTAACTTTGACACTTGCTAGCAGCAAAAGATGCATTTATTAGTCATTCCTTTCTCTCTATACTCTCAGAGTTTACACAAGCCTCTTTTATAATATCTTTCTCATTGAATTAGTCATTTCTTAAGATGTCTGCTCCTTCACCAGGCTATACCTCCAGGATGGTAGGATAGGATGTTGTTCCTGCATGATCAGTGCCCCACACAGAGCCTGCTACCAAGCCTACCATTTAACAGAGGTTTATTATTTAAGGAACGGAGATGGAAAGGCTTCTCTGGATACAATTTTGGCGATGAAAGTGTCCCACTCATGAACGTGAGAAAATTGTAATCAGGGTCTCAGGCAAAGATAGAAGCATCAGGAAGATGAGAAAGGGTTGAATCTAACAGTGCACAGCCAGAACTCTAAAAGACTAAAGACCTTTCTGTGACCCAGGACTTACCGTAAACTCCCCTGTGACAGCATCAAAACCGACATGAATTGTGTGTTCAAAATCTGAAGGGAGAGAAATCTCTGGCCGCTCTTTCTCTTTCTTTTTATTTGCTGCAAGAGAAACAGGCAAAAGGAAATAAAAAACAGGAACATTATTGTTTTTAGGCTTATTTTAGCTCTTTATTGAGCTGTAGTCTCCTTGAGAGGGCAAAGTCTATCTATTAATATTTCACATATGTAGAAGAGCTCAGTTACGGATCTGGATTGGAGCAGATACTCAATGCATGTTTAAAGACTTAATTTCTTGTTGAACTAAAGTACGGGAGGTGGCCGGGCACGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATTGCTTGAGTCCAGGAGTTCAAGACCAGCCTAGGCAACATGGCAAAACCCTGTCTCTGCAAAAATACAAAAATTAGCTAGACATGGTGGTGCATGCCTGTAATGCCAGCTACTTGTGAAGCTGAGGCAAGAGGATCATTTGAGCCCAGGATGTAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCATTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAAAAAACAAAAAACAATAAAATAAAGGGAGAGGCAAAAAGATCGTCTGTCAGAGTTAACAGTTCTGGTTTTACCAGTAACTAGCCAGTTGATATAGAGTAAGTCATCTTTTTTGTGAAGCCCTCCTTGATCTCTAGGCTGGGTGGTTCTTTACCCTCTCTGTTCCCACAGCACCCAATATATGTAATAGTAATTGACTATTATAAGTGTTTATCTTCCATACCAGACTGAATTCTAAGTGCAGAGGCCATGTCAAATTAATCACAGCTTCCCAGAGGCTAGCACACACCTGGACAAAGTAGGTGCTCAGACAGTAAGTGAAGAAAGGAAAAAATGACCAGACATTTAACTCAACTGGGCAAGGAGTTTAAAGAATCTGCCTAAGACACAAAAATTCTCTCCAGGGCAGGAATAAATGTTCATTTCAGCAGCTCTGGCCTGACTTTCACAACACTTGTTACCCAGCACCTGTGAACCTTATTTTAAAACCCTGCTGTCTGGGAGCTCAACACACTAACCAAAAGAAATTCTGAAGTTCTAACACCTCCACAGACCCAGCAAAACCCTGATAAAAGGTAGCAAAATGAGAAGGAAAAAACAAAAAGGTCTAGAGTTCAAGCCAGTTTCACCTCTACCTCACCACAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGAGAGAGAGAGAGAAAGAGAGACCAGGATCTCTGCTTTCTCATCTAAACAAGGGAGAGGATGAGCTAGATGATCTTAAGGGTCCCTCAAGCACCTACATTCTGTGAATCTATGAAAACAAGAAACTATGCTTTCTCAAAGCTCTGCAGTTAAGATTCCTTCCTGAGATGGCATCCCACAGTTTTAAAT
|
Task1_train_16366
|
A change on Chromosome 11 affects gene PAK1 (p21 (RAC1) activated kinase 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
|
Pathogenic; PAK1-related neurodevelopmental disorders
|
CACATGTGAGCATATACAAATGAGGTAGTATTATCATAACTAATAGTATAAGAGGATGGTAAATAGGGAAAGGAGAGATATGACACTTAAAAAAACCTATACCAAATATGCAATTTTGCCTAGAGTTGGCCCTAGTCTTCAACTTATAGAAAATTAAAATTCTTGCATACATATATATACATGTGCACAAATTTATACATACAAAAGTAGATGTACACACGTATCTGTACATATACACTCAATATTATTCATATGTGCATGCATGAATGAACATACACATAATTACCTGAATGTTTATATTTATACATATGTTCGTTCATGAATACCTGAGTGGACTTTATCTTTGTTCATGAATACTTAAGTAGGCTTTAATTCCAAATATATGCAAACCCACAGGGCTATGTCTCTGTTTACATACACATTTACATGCCACTAGCACATATTTACATACATACATGCAGGAAAGATCCTTGCAAAGACTTGGCCACTGAGGTTTTCAAAGACAGCCTCTAACCTGATGTTTCCATGACAAGTTCCTTAAACACAAACTCTAATTTCCTGACTAGAAAACTTTCCCACTCAGTAGCCCTCCAGCCCAATTCCTCCTTGAAATGACTCAGTCCCTCAATGGAGTAAGTGAGACAGACTCAGCGGGGCCAGACGAGAGGAAGGAAATACTGCTGGGCACATGCATGGCCCTCTCCTGGGCACCACCATAGCAGCATGAGTGAAGCTGCAGCCTGTCATCTCCACCATCTGTGCCCTTGAAACAAGCCAGATACTGGCTGGGGAAAGCATCCTTCAAAATTCACTAGTTCATCCTGGTTCTCACCTTCCCAACAATACTGCCATTTGAAGGAGGCAACATGAGTAAAGAGCCTAGAAATTAAAAGATTAGCCCACTATTAATTTAGCATATTAGAAAGGCCTTCTTTGGTTCTCACACCTGCAAAACAATGGAAAGCTGGTCCGCTGTGGAAGGAGAGCCTCCAAATAACATTATTAGGGGCAAGTAGTAAATTCAAAAGGTGATGTTACAGGAATTAGGAGACCTGGGTTCTAATCCCAATTCTGCTATTAAAAACACTCTGAAAAATATAGTCCCTTCTACCGAGGGTACATCTAAAGAAACTTATTCTTTATTGGCCTGTTTTTCATTTAACTAATAAAAATTAGTTCCCTGAGGAAGACATACATTAATGTTATTAAATAACTAATAATAATATTAACAATAATGATGACAATGATAGCTACATTTCTATGGTGATGTTTTACAACTTATAAAGAACTCTCACATCAATCAGCTCACTTATTTCTCACTATAACCTCTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGTGATCCTTGCTCACTGCAACTCCACCTCCCAGGCTCAAGTGATCCCTTCTCCTCAGCTTCCCAAGTAGCTGGGACCACAGGGATGCACCACCACACCCGGCTAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCACGTTGCCCAGACTGGTCTCGAACTCCTGACCTCAAGCGATCCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGGCACTGCGCCCAACCATTTCTCACTACAGCCTCTTGAGATAGGAATTCCCATTTTGAGATGCAAAGAAATGAAGTGACTGGTAGAACCTAGTAAAGGTCAGAATCTAGACCTTCTAGCATAAAACCTGTGTTCTCTCTATATAATACCATGCTATTTTTAAAAAAACGTGTGCAGTGACAGAGTGAAGACTCAAGTTTGATGCAAAGTCCATCATCTTGGCTGTCAAATTCCAAAATTCCACGTTAAAGTGCCACTTCCACTCTTTCCACTACTTTCTTCTCTCATCCCAGACTAATAGGCATGTGAGCTTTCCCACCCAGATTAAAACCATCTCTTGCTGAGACTGCCCTGGACGCAGTTCTCATACCTGTAAAGCTCATGTATTTCTGGCTGTTGGATGTCTTCTTCGAGTTGTAAAACTCCAACACATCCAGAACAGCCTGCGGGTTTTTCTTCTGCTCCGACTTAGTGATATTTGATGTCTGAAGCAAGCGGGCCCACTGCTCTGGCATTCCCTGTAAGAGAGACATGCAAGACTAACAGGAAGGCACAGTCACAGGGGAGCCTGAAAGAACATCAGAGCTAACTTTGACACTTGCTAGCAGCAAAAGATGCATTTATTAGTCATTCCTTTCTCTCTATACTCTCAGAGTTTACACAAGCCTCTTTTATAATATCTTTCTCATTGAATTAGTCATTTCTTAAGATGTCTGCTCCTTCACCAGGCTATACCTCCAGGATGGTAGGATAGGATGTTGTTCCTGCATGATCAGTGCCCCACACAGAGCCTGCTACCAAGCCTACCATTTAACAGAGGTTTATTATTTAAGGAACGGAGATGGAAAGGCTTCTCTGGATACAATTTTGGCGATGAAAGTGTCCCACTCATGAACGTGAGAAAATTGTAATCAGGGTCTCAGGCAAAGATAGAAGCATCAGGAAGATGAGAAAGGGTTGAATCTAACAGTGCACAGCCAGAACTCTAAAAGACTAAAGACCTTTCTGTGACCCAGGACTTACCGTAAACTCCCCTGTGACAGCATCAAAACCGACATGAATTGTGTGTTCAAAATCTGAAGGGAGAGAAATCTCTGGCCGCTCTTTCTCTTTCTTTTTATTTGCTGCAAGAGAAACAGGCAAAAGGAAATAAAAAACAGGAACATTATTGTTTTTAGGCTTATTTTAGCTCTTTATTGAGCTGTAGTCTCCTTGAGAGGGCAAAGTCTATCTATTAATATTTCACATATGTAGAAGAGCTCAGTTACGGATCTGGATTGGAGCAGATACTCAATGCATGTTTAAAGACTTAATTTCTTGTTGAACTAAAGTACGGGAGGTGGCCGGGCACGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATTGCTTGAGTCCAGGAGTTCAAGACCAGCCTAGGCAACATGGCAAAACCCTGTCTCTGCAAAAATACAAAAATTAGCTAGACATGGTGGTGCATGCCTGTAATGCCAGCTACTTGTGAAGCTGAGGCAAGAGGATCATTTGAGCCCAGGATGTAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCATTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAAAAAACAAAAAACAATAAAATAAAGGGAGAGGCAAAAAGATCGTCTGTCAGAGTTAACAGTTCTGGTTTTACCAGTAACTAGCCAGTTGATATAGAGTAAGTCATCTTTTTTGTGAAGCCCTCCTTGATCTCTAGGCTGGGTGGTTCTTTACCCTCTCTGTTCCCACAGCACCCAATATATGTAATAGTAATTGACTATTATAAGTGTTTATCTTCCATACCAGACTGAATTCTAAGTGCAGAGGCCATGTCAAATTAATCACAGCTTCCCAGAGGCTAGCACACACCTGGACAAAGTAGGTGCTCAGACAGTAAGTGAAGAAAGGAAAAAATGACCAGACATTTAACTCAACTGGGCAAGGAGTTTAAAGAATCTGCCTAAGACACAAAAATTCTCTCCAGGGCAGGAATAAATGTTCATTTCAGCAGCTCTGGCCTGACTTTCACAACACTTGTTACCCAGCACCTGTGAACCTTATTTTAAAACCCTGCTGTCTGGGAGCTCAACACACTAACCAAAAGAAATTCTGAAGTTCTAACACCTCCACAGACCCAGCAAAACCCTGATAAAAGGTAGCAAAATGAGAAGGAAAAAACAAAAAGGTCTAGAGTTCAAGCCAGTTTCACCTCTACCTCACCACAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGAGAGAGAGAGAGAAAGAGAGACCAGGATCTCTGCTTTCTCATCTAAACAAGGGAGAGGATGAGCTAGATGATCTTAAGGGTCCCTCAAGCACCTACATTCTGTGAATCTATGAAAACAAGAAACTATGCTTTCTCAAAGCTCTGCAGTTAAGATTCCTTCCTGAGATGGCATCCCACAGTTTTAAAT
|
CACATGTGAGCATATACAAATGAGGTAGTATTATCATAACTAATAGTATAAGAGGATGGTAAATAGGGAAAGGAGAGATATGACACTTAAAAAAACCTATACCAAATATGCAATTTTGCCTAGAGTTGGCCCTAGTCTTCAACTTATAGAAAATTAAAATTCTTGCATACATATATATACATGTGCACAAATTTATACATACAAAAGTAGATGTACACACGTATCTGTACATATACACTCAATATTATTCATATGTGCATGCATGAATGAACATACACATAATTACCTGAATGTTTATATTTATACATATGTTCGTTCATGAATACCTGAGTGGACTTTATCTTTGTTCATGAATACTTAAGTAGGCTTTAATTCCAAATATATGCAAACCCACAGGGCTATGTCTCTGTTTACATACACATTTACATGCCACTAGCACATATTTACATACATACATGCAGGAAAGATCCTTGCAAAGACTTGGCCACTGAGGTTTTCAAAGACAGCCTCTAACCTGATGTTTCCATGACAAGTTCCTTAAACACAAACTCTAATTTCCTGACTAGAAAACTTTCCCACTCAGTAGCCCTCCAGCCCAATTCCTCCTTGAAATGACTCAGTCCCTCAATGGAGTAAGTGAGACAGACTCAGCGGGGCCAGACGAGAGGAAGGAAATACTGCTGGGCACATGCATGGCCCTCTCCTGGGCACCACCATAGCAGCATGAGTGAAGCTGCAGCCTGTCATCTCCACCATCTGTGCCCTTGAAACAAGCCAGATACTGGCTGGGGAAAGCATCCTTCAAAATTCACTAGTTCATCCTGGTTCTCACCTTCCCAACAATACTGCCATTTGAAGGAGGCAACATGAGTAAAGAGCCTAGAAATTAAAAGATTAGCCCACTATTAATTTAGCATATTAGAAAGGCCTTCTTTGGTTCTCACACCTGCAAAACAATGGAAAGCTGGTCCGCTGTGGAAGGAGAGCCTCCAAATAACATTATTAGGGGCAAGTAGTAAATTCAAAAGGTGATGTTACAGGAATTAGGAGACCTGGGTTCTAATCCCAATTCTGCTATTAAAAACACTCTGAAAAATATAGTCCCTTCTACCGAGGGTACATCTAAAGAAACTTATTCTTTATTGGCCTGTTTTTCATTTAACTAATAAAAATTAGTTCCCTGAGGAAGACATACATTAATGTTATTAAATAACTAATAATAATATTAACAATAATGATGACAATGATAGCTACATTTCTATGGTGATGTTTTACAACTTATAAAGAACTCTCACATCAATCAGCTCACTTATTTCTCACTATAACCTCTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGTGATCCTTGCTCACTGCAACTCCACCTCCCAGGCTCAAGTGATCCCTTCTCCTCAGCTTCCCAAGTAGCTGGGACCACAGGGATGCACCACCACACCCGGCTAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCACGTTGCCCAGACTGGTCTCGAACTCCTGACCTCAAGCGATCCTCTTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGGCACTGCGCCCAACCATTTCTCACTACAGCCTCTTGAGATAGGAATTCCCATTTTGAGATGCAAAGAAATGAAGTGACTGGTAGAACCTAGTAAAGGTCAGAATCTAGACCTTCTAGCATAAAACCTGTGTTCTCTCTATATAATACCATGCTATTTTTAAAAAAACGTGTGCAGTGACAGAGTGAAGACTCAAGTTTGATGCAAAGTCCATCATCTTGGCTGTCAAATTCCAAAATTCCACGTTAAAGTGCCACTTCCACTCTTTCCACTACTTTCTTCTCTCATCCCAGACTAATAGGCATGTGAGCTTTCCCACCCAGATTAAAACCATCTCTTGCTGAGACTGCCCTGGACGCAGTTCTCATACCTGTAAAGCTCATGTATTTCTGGCTGTTGGATGTCTTCTTCGAGTTGTAAAACTCCAACACATCCAGAACAGCCTGCAGGTTTTTCTTCTGCTCCGACTTAGTGATATTTGATGTCTGAAGCAAGCGGGCCCACTGCTCTGGCATTCCCTGTAAGAGAGACATGCAAGACTAACAGGAAGGCACAGTCACAGGGGAGCCTGAAAGAACATCAGAGCTAACTTTGACACTTGCTAGCAGCAAAAGATGCATTTATTAGTCATTCCTTTCTCTCTATACTCTCAGAGTTTACACAAGCCTCTTTTATAATATCTTTCTCATTGAATTAGTCATTTCTTAAGATGTCTGCTCCTTCACCAGGCTATACCTCCAGGATGGTAGGATAGGATGTTGTTCCTGCATGATCAGTGCCCCACACAGAGCCTGCTACCAAGCCTACCATTTAACAGAGGTTTATTATTTAAGGAACGGAGATGGAAAGGCTTCTCTGGATACAATTTTGGCGATGAAAGTGTCCCACTCATGAACGTGAGAAAATTGTAATCAGGGTCTCAGGCAAAGATAGAAGCATCAGGAAGATGAGAAAGGGTTGAATCTAACAGTGCACAGCCAGAACTCTAAAAGACTAAAGACCTTTCTGTGACCCAGGACTTACCGTAAACTCCCCTGTGACAGCATCAAAACCGACATGAATTGTGTGTTCAAAATCTGAAGGGAGAGAAATCTCTGGCCGCTCTTTCTCTTTCTTTTTATTTGCTGCAAGAGAAACAGGCAAAAGGAAATAAAAAACAGGAACATTATTGTTTTTAGGCTTATTTTAGCTCTTTATTGAGCTGTAGTCTCCTTGAGAGGGCAAAGTCTATCTATTAATATTTCACATATGTAGAAGAGCTCAGTTACGGATCTGGATTGGAGCAGATACTCAATGCATGTTTAAAGACTTAATTTCTTGTTGAACTAAAGTACGGGAGGTGGCCGGGCACGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATTGCTTGAGTCCAGGAGTTCAAGACCAGCCTAGGCAACATGGCAAAACCCTGTCTCTGCAAAAATACAAAAATTAGCTAGACATGGTGGTGCATGCCTGTAATGCCAGCTACTTGTGAAGCTGAGGCAAGAGGATCATTTGAGCCCAGGATGTAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCATTCCAGCCTGGGTGACAGAGTGAGGCCCTGTCTCAAAAAAACAAAAAACAATAAAATAAAGGGAGAGGCAAAAAGATCGTCTGTCAGAGTTAACAGTTCTGGTTTTACCAGTAACTAGCCAGTTGATATAGAGTAAGTCATCTTTTTTGTGAAGCCCTCCTTGATCTCTAGGCTGGGTGGTTCTTTACCCTCTCTGTTCCCACAGCACCCAATATATGTAATAGTAATTGACTATTATAAGTGTTTATCTTCCATACCAGACTGAATTCTAAGTGCAGAGGCCATGTCAAATTAATCACAGCTTCCCAGAGGCTAGCACACACCTGGACAAAGTAGGTGCTCAGACAGTAAGTGAAGAAAGGAAAAAATGACCAGACATTTAACTCAACTGGGCAAGGAGTTTAAAGAATCTGCCTAAGACACAAAAATTCTCTCCAGGGCAGGAATAAATGTTCATTTCAGCAGCTCTGGCCTGACTTTCACAACACTTGTTACCCAGCACCTGTGAACCTTATTTTAAAACCCTGCTGTCTGGGAGCTCAACACACTAACCAAAAGAAATTCTGAAGTTCTAACACCTCCACAGACCCAGCAAAACCCTGATAAAAGGTAGCAAAATGAGAAGGAAAAAACAAAAAGGTCTAGAGTTCAAGCCAGTTTCACCTCTACCTCACCACAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGAGAGAGAGAGAGAAAGAGAGACCAGGATCTCTGCTTTCTCATCTAAACAAGGGAGAGGATGAGCTAGATGATCTTAAGGGTCCCTCAAGCACCTACATTCTGTGAATCTATGAAAACAAGAAACTATGCTTTCTCAAAGCTCTGCAGTTAAGATTCCTTCCTGAGATGGCATCCCACAGTTTTAAAT
|
Task1_train_16367
|
Gene NDUFC2, NDUFC2-KCTD14 (NADH:ubiquinone oxidoreductase subunit C2| NDUFC2-KCTD14 readthrough) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
|
Pathogenic; Mitochondrial disease
|
AAAAAAGAAACTGTATCTTTCTGATCCACCATAAATATCATATATGTGACTGAAGGCTGTGGGAATATTAAAGAGTAATAAAATTTTAGAGCTAAATAAGACCTTAGAGATCATTCAGTGTAATGAAATTTAAATGTTTTATATCACGCATTTACATTAACAGAAGAATTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCGCTCTGTCACCTAGGCTGGAATGCAGTGGTGTGATCACGGCTCACGGCACCTTGTCCTCCCAGGCTCAAGTAATCCTCCTGCCTCAGCCTCCCAAGTCAATGGGTCTATAGGCATGTGCCACCTCACCCAGCTAATTTTTTAATTTTCTGTAGAGATGAGGTCTCACTATGTTGCCGAGACTGGGGAAAATCTATTTATGTTTACAAGTTCAAATTTTTTCTATACTCATTCATTTACACATTTAATAAGGCTATGTGTGCCAAACCCCTGGGGAAACCAAAAAAAACTGTCGTAGTAGTTAAACTCCCAGCCTACAGATACTCATATATGTGCACATCTGTGTTGTGTATATGTGTGTAAAACACAGGTGAGAAAAGTTATATTACAACTATTAATAGATTCATAGCAGACTAGAGATAGAGCACCCTGAGGGAATGCCTGACTGTAGCTGGGTGAAAGCTTCACTGAGATAATAAAAGCAGAAATTTGCTAGGTGGATGGGGTGGAAACAGGGGCAAGAGGAAGAATAACATAGCAGGAAGAAGGTACAACATGTATAAAGTAATATAGGGCAGGTTCGGGACAAAGCATTTCACCAGGCAAATGATGAGTGATGAGGAATGAGGAAGTATTCCATACGGTTCATATCCACTATTATGCATAAGTAAGTGCCTGCTATGTGTAGGCTCTATACAAGAGGCTGGGGAAACAAAGACGAAGCTACAATCCATGAAGAACACACACATGTGTATATCATATGGTAGATAAGAATGTGGGTAAAGTGTTTCTACCAGAGGACAGGCAATTAGCTAACCTGGAGTAAATGAGCCATCCTAAGGAGTCTGGATTTTATCCACTAGGCAATGGATGACTTATTTATTTTATTTTAATTTTATTTTATTTTTTGAGACACAGTCTTGCTGTGACACCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGCTTACAGGCACCCGCCATCATGCCCGGCTAATTTTTGTATTTCTAATAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCCGCTCGGCCCCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGACCAGCCGGATGACTATTTTAAACAGATGTGATCAGATTTGCTGTCATTGGAAATAAGACCAAAGCAAGTGGTGAGTTAAGAGGCAAGTGCAACAGTCCAAGCAAGAGATTAACAAGGCCTGAACCAGGGTAGTGGTAGTGGGAGAGGAGAGTTCAAAGTTAAGAAATATTTAGGAAGTAGAACTGATAAGACCTGATGACTAATGGGAAGTGAAAGAGAAAGACTTGATGATTCTCAGGCTTCTGGCTTGAGTGTCCAGGTGGACAGTAGTGCCATTCTCTGAAGCAGGACACAGAGGAGCAGGAGGTTTGGGAAGGCAGAGGGGATATGAGTTTTGTTTGCTGTCCAAAGGACACGGAGGTAGTCAGAAACTGGATATATTAATTCAAGAGAATTTTGGTCTATAGACTAAGATGTGGGAGTCAACAGAATTTAGAAGGTATCTAAAGCCATACACATGGATAAGATTAACCAGGGAAAATAATAATACAGTAAACACAGATTATCTAAAATTAACTTGAAATACCTTCTTCAGGAAAATCCTCTGGATGTAATTTCATATATCCAAACATTTCACGGTCCCTCACAGCATACAGGTAGTCTTCACGTTTTACAAGATAATATCCAGCAAAAAAAAAGGCCGTAATATATAGAAGCTGGCGATGCAAACCTGAAATTCAAATGACAAATCCCAAAGAAAGCAAAAATTAGTCCATGTGTATTAAGAGTTACATTTTTGGCTGGACGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTTGGCTGGGGGTGGTGGCGGGTGCCTGTAGTCTCAGCTACTTGGGAGGCTGAGGCAGGCGAATCATTGGAACCTGGGAGGCAGAGGTTGCAGTAAGCTGATATTGCGCCATTGCACTCCAGCCTGGGTGACAAAGCGCCTGGCCTGTTATGGCATTTCTTAAAAAAATAAAAATAAAAAAAGCACTGGGCTCAGTGGCTCACGCCTGTAATACCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTACAAGACCAGTTCACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATCAGCCAGATGTGGTGGTGGGCACCTGTAATCCCAACTACTTGGGTGGCTGAGGCAGGAGAATTGTTAGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCGTTGCACTCCAGCCTGGGGGACGGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGCTATTCTGAACAAACCGCCTTGATCCCTGACTTTGAGACACCCTACATATTCTTTTTTTTTTTTGAGACAGGGTCTAGCTCTGTCGCCCAGGCTGGCGTGCAGTGGCACAATCACAGCTCACTGCAGCCTCAACCTCCTAGGCTCAAGCAATCCTCTCACCTCAGCTTCCCAAGTAGCTGGGACCAAAAGCGTGCACCACCATGCCTTTTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTAAGAGGGGTCTTGCTATGTTTCCCAGACTGGTCTTGAACTCCTGGGCTCAAGCGATCCCCCTGCCTCAGCCTCCCAAAGTGTTAGGATTACAGGAATGAGCCACCACACTCGGCCCACATTATCACTTCTTTAAAGGTTAACAAATCTAAAATATTACATGCAATGTATATTTTAGCATATAGCACTTAATATTTATTTAATAAATGAATGAACAGCCTTGGGCAATTCAATTTACTACCTCTAAAACATAGACAAGACCTATCCTGGCTGGGCGTGGTGGCTCACAACTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTAGCACGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCTGGAGAATCGCTTGAAGCCAGGAGGTGGAGATTGCAGTGAGCCAAGATCACACCACTGAACTCTAGCCTGGGCGACAGAATGAGACTCTGTCTCAAAAAAAAAAACAAAAAAAGACCTATCCTATCTTTCTCACAGTAGTAGCATATAAAACAAGACATATGCATATAAAAGTATTTCCGAAAATGTATAAAACAATAAAAATGAAAAATATTCCTATGTTCTAGAACTGGACAGAGCACTCTCTCTTACCCCAAACAGCCACTGCTTTCCATAATGGGCTACCCGCCATATAGCAAACCAAAGAGTGCATGTTCTCCCATGTGCCACTGGACTGCAGAGACACACAGAACCAGACTCTCTCTACGCTGACCCATGTTCCTCACAGAAAGACTCCATAAGCGTTCGAGATGATGATGTCAGCATCCTAGCCCTAAAGGCATGGCTTGGCCTCTTGCCAAGGCCCCATTTTCCTAACCTCTCTCCTCATTCTCTCTTAGTGGTCGACCTCTCACTACCTGCACACCCCATCTACAATCATTTTCCCATTGTTTACTCAGTGAGTCTAACCCCGGCAGCTATTGTGCTCTTTGAAGAACATCATAAATTACTGATAAACTAGAGATCAATAAATATTTAATTTTGTGGGCTATACTTAGCATACCA
|
AAAAAAGAAACTGTATCTTTCTGATCCACCATAAATATCATATATGTGACTGAAGGCTGTGGGAATATTAAAGAGTAATAAAATTTTAGAGCTAAATAAGACCTTAGAGATCATTCAGTGTAATGAAATTTAAATGTTTTATATCACGCATTTACATTAACAGAAGAATTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCGCTCTGTCACCTAGGCTGGAATGCAGTGGTGTGATCACGGCTCACGGCACCTTGTCCTCCCAGGCTCAAGTAATCCTCCTGCCTCAGCCTCCCAAGTCAATGGGTCTATAGGCATGTGCCACCTCACCCAGCTAATTTTTTAATTTTCTGTAGAGATGAGGTCTCACTATGTTGCCGAGACTGGGGAAAATCTATTTATGTTTACAAGTTCAAATTTTTTCTATACTCATTCATTTACACATTTAATAAGGCTATGTGTGCCAAACCCCTGGGGAAACCAAAAAAAACTGTCGTAGTAGTTAAACTCCCAGCCTACAGATACTCATATATGTGCACATCTGTGTTGTGTATATGTGTGTAAAACACAGGTGAGAAAAGTTATATTACAACTATTAATAGATTCATAGCAGACTAGAGATAGAGCACCCTGAGGGAATGCCTGACTGTAGCTGGGTGAAAGCTTCACTGAGATAATAAAAGCAGAAATTTGCTAGGTGGATGGGGTGGAAACAGGGGCAAGAGGAAGAATAACATAGCAGGAAGAAGGTACAACATGTATAAAGTAATATAGGGCAGGTTCGGGACAAAGCATTTCACCAGGCAAATGATGAGTGATGAGGAATGAGGAAGTATTCCATACGGTTCATATCCACTATTATGCATAAGTAAGTGCCTGCTATGTGTAGGCTCTATACAAGAGGCTGGGGAAACAAAGACGAAGCTACAATCCATGAAGAACACACACATGTGTATATCATATGGTAGATAAGAATGTGGGTAAAGTGTTTCTACCAGAGGACAGGCAATTAGCTAACCTGGAGTAAATGAGCCATCCTAAGGAGTCTGGATTTTATCCACTAGGCAATGGATGACTTATTTATTTTATTTTAATTTTATTTTATTTTTTGAGACACAGTCTTGCTGTGACACCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGCTTACAGGCACCCGCCATCATGCCCGGCTAATTTTTGTATTTCTAATAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCCGCTCGGCCCCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGACCAGCCGGATGACTATTTTAAACAGATGTGATCAGATTTGCTGTCATTGGAAATAAGACCAAAGCAAGTGGTGAGTTAAGAGGCAAGTGCAACAGTCCAAGCAAGAGATTAACAAGGCCTGAACCAGGGTAGTGGTAGTGGGAGAGGAGAGTTCAAAGTTAAGAAATATTTAGGAAGTAGAACTGATAAGACCTGATGACTAATGGGAAGTGAAAGAGAAAGACTTGATGATTCTCAGGCTTCTGGCTTGAGTGTCCAGGTGGACAGTAGTGCCATTCTCTGAAGCAGGACACAGAGGAGCAGGAGGTTTGGGAAGGCAGAGGGGATATGAGTTTTGTTTGCTGTCCAAAGGACACGGAGGTAGTCAGAAACTGGATATATTAATTCAAGAGAATTTTGGTCTATAGACTAAGATGTGGGAGTCAACAGAATTTAGAAGGTATCTAAAGCCATACACATGGATAAGATTAACCAGGGAAAATAATAATACAGTAAACACAGATTATCTAAAATTAACTTGAAATACCTTCTTCAGGAAAATCCTCTGGATGTAATTTCATATATCCAAACATTTCACGGTCCCTCACAGCATACAGGTAGTCTTCACGTTTTACAAGATAATATCCAGCAAAAAAAAAGGCCGTAATATATAGAAGCTGGCGAAGCAAACCTGAAATTCAAATGACAAATCCCAAAGAAAGCAAAAATTAGTCCATGTGTATTAAGAGTTACATTTTTGGCTGGACGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTTGGCTGGGGGTGGTGGCGGGTGCCTGTAGTCTCAGCTACTTGGGAGGCTGAGGCAGGCGAATCATTGGAACCTGGGAGGCAGAGGTTGCAGTAAGCTGATATTGCGCCATTGCACTCCAGCCTGGGTGACAAAGCGCCTGGCCTGTTATGGCATTTCTTAAAAAAATAAAAATAAAAAAAGCACTGGGCTCAGTGGCTCACGCCTGTAATACCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTACAAGACCAGTTCACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATCAGCCAGATGTGGTGGTGGGCACCTGTAATCCCAACTACTTGGGTGGCTGAGGCAGGAGAATTGTTAGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCGTTGCACTCCAGCCTGGGGGACGGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGCTATTCTGAACAAACCGCCTTGATCCCTGACTTTGAGACACCCTACATATTCTTTTTTTTTTTTGAGACAGGGTCTAGCTCTGTCGCCCAGGCTGGCGTGCAGTGGCACAATCACAGCTCACTGCAGCCTCAACCTCCTAGGCTCAAGCAATCCTCTCACCTCAGCTTCCCAAGTAGCTGGGACCAAAAGCGTGCACCACCATGCCTTTTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTAAGAGGGGTCTTGCTATGTTTCCCAGACTGGTCTTGAACTCCTGGGCTCAAGCGATCCCCCTGCCTCAGCCTCCCAAAGTGTTAGGATTACAGGAATGAGCCACCACACTCGGCCCACATTATCACTTCTTTAAAGGTTAACAAATCTAAAATATTACATGCAATGTATATTTTAGCATATAGCACTTAATATTTATTTAATAAATGAATGAACAGCCTTGGGCAATTCAATTTACTACCTCTAAAACATAGACAAGACCTATCCTGGCTGGGCGTGGTGGCTCACAACTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTAGCACGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCTGGAGAATCGCTTGAAGCCAGGAGGTGGAGATTGCAGTGAGCCAAGATCACACCACTGAACTCTAGCCTGGGCGACAGAATGAGACTCTGTCTCAAAAAAAAAAACAAAAAAAGACCTATCCTATCTTTCTCACAGTAGTAGCATATAAAACAAGACATATGCATATAAAAGTATTTCCGAAAATGTATAAAACAATAAAAATGAAAAATATTCCTATGTTCTAGAACTGGACAGAGCACTCTCTCTTACCCCAAACAGCCACTGCTTTCCATAATGGGCTACCCGCCATATAGCAAACCAAAGAGTGCATGTTCTCCCATGTGCCACTGGACTGCAGAGACACACAGAACCAGACTCTCTCTACGCTGACCCATGTTCCTCACAGAAAGACTCCATAAGCGTTCGAGATGATGATGTCAGCATCCTAGCCCTAAAGGCATGGCTTGGCCTCTTGCCAAGGCCCCATTTTCCTAACCTCTCTCCTCATTCTCTCTTAGTGGTCGACCTCTCACTACCTGCACACCCCATCTACAATCATTTTCCCATTGTTTACTCAGTGAGTCTAACCCCGGCAGCTATTGTGCTCTTTGAAGAACATCATAAATTACTGATAAACTAGAGATCAATAAATATTTAATTTTGTGGGCTATACTTAGCATACCA
|
Task1_train_16368
|
This variant affects the gene ALG8 (ALG8 alpha-1,3-glucosyltransferase) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
|
Pathogenic; ALG8 congenital disorder of glycosylation
|
AGGCTAGGAGGGTTAAATAACTTGCCTTCAGTTAATGGTTCTCAAGCCTGATGGTGTATCAAAATTCCTTAGAGAGTCTTAAGCCCCATTCCCAGAGACTTCGATTCCATGTACAAAGGGATGGCCCCAAAATCTGAATTTCTGATTTCCTCCTCTATAGGAGGAATAATAATTCTAACAACTTCACAGAATGGTTCTGAAGTTTACTCAATAAGATATATGTAAGCCAGGTGTGGTGGCACACATCTGTAATCCCAGAGACTCAGAAGCAGAGGTAGGAGGATTGTTCAAGGCCAGGAGTTCAAGACCTGTCTCTAATCCTAGCACTTTGGGAGGCCAGAGTGGGAGGATCACTTGTGGTCAGGAGTTTAAGACCAGCCTGGACAACATAGTGAAACCTCCTTCTCTACCAAAAAAAAAAAAAAAAATTAGCCAGGTATGGTGGTGTGCACCTGTAATTCTAGCGACTCAGGAGGCTGAGGTGAGAGAATTGCTTGAGCCCAGGAGTTTGAGGAGGCAGTGAGCCATGATTGCGCCAGTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCAACTCTTAAGAAAAAAAAAAGACCGGGAGCGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAGGTCAGGAGATCAAGACCATACTGTAAATGGTGAAACTCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCAGGAGAAGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGAGACAGGGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAAAATACATGGAATGTATGTAATCTTAGTAGCCATGTATTTGAGTAAGCCCTGAGTTGCATAGCTCATTAACATTAGTCAGGATTACACACAGTTCTTCTGATTCCAAATCCCTTTCTATTACATTAATCTTCATGCTGCTGACAGTAAAGTATCACTATCATAGTTATTATATTGTAAAGACTGCTGCTAGAGACTTCATTTGTACATAAATTATCCCAACCAGACAAAATGTAATTTCGGGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGAACACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGTTGAAACCCCATCTCTAATAAAAATACAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGGGATTGTGCCATCGCACTCCAGCCTGGGCGATAGAGCGAGACTCATTCTCAAAAAAAAAAAAAAAAAAAAAACAAAAGCAAAGAAAATGTAATTTAGGGCAGGCACAGGGGCTCATGCTTATAATTCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGGTCAGGAGTTCGAGCCAACATGGCAAGACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAATCCCAGCTACTCATGAGGCTTGAACCCAAGAGGCAGAGGTTGCAGTGAGCTGAGATTGCACCACTGTACTCCAGTCTGGGTGACAGAGTGAGACTGTTTCAAAACACAAACAAACAAAAACTCAATTTAATTCAGGCCTGCCGCATGCTAACAAGCTTTTGGAGTACAATTGTCTCATCTGTTAAATGAAGAAAATTATGGTCAAAAGAGAAGATGGAATTTGTGAGAAATACCTAATAAAAGTGTCTATCGCACTTGGCAGCTCAAAACAGTCAAATAAATTTACCTATCACCCACTACACTGTTCCCTTTACAATCTAAAAACTAATCTAAAAGGGAAAAAATCTAATTAAACAATTATGTTTACCTGAAATAATCGTGCAATGGAGAGTAGCATTAATCCAAATAAAAAGCCATTGTACTGAAAATGAATATCTGGACTTAGGTCAAGGAAAGACAACAGAGGACACCAAATTCATAATGAACTATACCAGCTGATGGAGTATAGAAATTCCAAATGCTTTAATAGCAAAATTAAAGACAAAAAATACTACTACTAATGTGGACTGCTCATAAATATGTTTTCTATAAACAGATTCAAATTTTTTTTTTAATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCACAGTCTTGGCTCACTGCAGCCTCTGCCTCCTGGGTCCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATACCACCACACCCAGCTAATTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGTTTCGAACTCCTGACCTCGTGATTCCCCAACCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACTGCACCCGGCCTAAACACATATTTTTATTTTTGCTAATCTCTGTATCATTCCAATTTTGCTGAAGCAAACACCATAGTCAGATCTTTAATTGAAACTTACATTTGGGGGTGTGGTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCTGACATGGGCAGATCACTTGGGACCAGGCGTTCAAGATCAGCCTGGTTAACATGGCAAACCCCCGTCTCTACCGAAAATACAAAACTTAGTCAGATGTGGTGGCACACACCTGTAGTCCCAGCTACTCGGGAGGCTGAAGCATGAGAATCACCTGAACCCAGGAGGCGGACACTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGTCTGGGTGACAGAGCAAGAATGTCTCAAATTAAAAAAAAAAGAAAAGGAAAGAAACTTATGTTTAATGACATCTTAGACTAGATGATTTAAAATATATAAATTTTTTTTATTTAAAAACAAATTTATGTTTAAGAAGAAAAACAAAACTTTCCCAGGTTTTTCCTACCTTTTCTACCTTAAAGGCCCCGCAGCTCAGGGGCAAGAAGTTTTTTGTTTTTTAGAATTAGGGATGAGAAAGGAATGGACCTAACTGCTACTAAGGCCACCAGCATGCAGCATTGCATTGTTTATAGGACATATACAATCTTATGTATTAAGCCTCACAATGAACCTGTGAGGTATTTAGAATTTTCCTCTTTAGAGATACTTTAGAGATTAAGAAATTAAGCCTCAGAGACATTCATCTACTCATGGTTCTAAAGCTGCTAATGGCAACTAAGATTTGGGTCCAGGTTACATTGAAACCAGAGGCTGGGTGCTTTCCTCCACACCAGGCTACCTTTATGAAAACTGCAACTATTAGTTTCCATTACAAGGATTTTAATTACATCCAGAAGCCTTGAATTTAAAAACTTTGCCTTTTAATATGTGGTAAGCCAAGATGGTAGAAAAGCACAAATGCCTGACCATTCCCACACGCACACTGTGATATGCCTTTTCCAATTAAAGGTATTTGGAATAATGTGTTACAAAACTATTTAATATATATGTATCAGATTAATCTAAAAATAGTTCACAATCTCAGTACATTGTTTTATTGATGATTTAGCTGGTTCTCACATATCCCACTAATTTTTCAGAAATGAAATACTCTAACCTCAGAGTCCAGTGAAGTTGGGCAGAGACCACAGTTAAGTGAGCCTACTAACCCACCCCACACTCATTTTCAGAAGGAGCTCACATCTCCAATCATTATTATAGAAAACATTAATCTTGTATTAGTATACATCAGAATTAGTAAGGGAATAGTACATAGAATATCAAGGATACGGTCCACAATTAATAACCCGAAGTTCCACAGAAGTAATACCGACAGAATAAATTTTGGCTTTTCTGTAAGTTCTTTACCCACTTTTTTTCCATCAATGCATTTACAGCACCTACATTGAAACATTAGGAAAGAAACAGAAACAACTTTGATCTTCATCGGAACATCACTTCTGCAGAGTAAACTATGATACATTAGTCATTCCTGACAAACTACATGCCATTCTTTTTTTTT
|
AGGCTAGGAGGGTTAAATAACTTGCCTTCAGTTAATGGTTCTCAAGCCTGATGGTGTATCAAAATTCCTTAGAGAGTCTTAAGCCCCATTCCCAGAGACTTCGATTCCATGTACAAAGGGATGGCCCCAAAATCTGAATTTCTGATTTCCTCCTCTATAGGAGGAATAATAATTCTAACAACTTCACAGAATGGTTCTGAAGTTTACTCAATAAGATATATGTAAGCCAGGTGTGGTGGCACACATCTGTAATCCCAGAGACTCAGAAGCAGAGGTAGGAGGATTGTTCAAGGCCAGGAGTTCAAGACCTGTCTCTAATCCTAGCACTTTGGGAGGCCAGAGTGGGAGGATCACTTGTGGTCAGGAGTTTAAGACCAGCCTGGACAACATAGTGAAACCTCCTTCTCTACCAAAAAAAAAAAAAAAAATTAGCCAGGTATGGTGGTGTGCACCTGTAATTCTAGCGACTCAGGAGGCTGAGGTGAGAGAATTGCTTGAGCCCAGGAGTTTGAGGAGGCAGTGAGCCATGATTGCGCCAGTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCAACTCTTAAGAAAAAAAAAAGACCGGGAGCGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAGGTCAGGAGATCAAGACCATACTGTAAATGGTGAAACTCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCAGGAGAAGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGAGACAGGGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAAAATACATGGAATGTATGTAATCTTAGTAGCCATGTATTTGAGTAAGCCCTGAGTTGCATAGCTCATTAACATTAGTCAGGATTACACACAGTTCTTCTGATTCCAAATCCCTTTCTATTACATTAATCTTCATGCTGCTGACAGTAAAGTATCACTATCATAGTTATTATATTGTAAAGACTGCTGCTAGAGACTTCATTTGTACATAAATTATCCCAACCAGACAAAATGTAATTTCGGGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGAACACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGTTGAAACCCCATCTCTAATAAAAATACAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGGGATTGTGCCATCGCACTCCAGCCTGGGCGATAGAGCGAGACTCATTCTCAAAAAAAAAAAAAAAAAAAAAACAAAAGCAAAGAAAATGTAATTTAGGGCAGGCACAGGGGCTCATGCTTATAATTCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGGTCAGGAGTTCGAGCCAACATGGCAAGACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAATCCCAGCTACTCATGAGGCTTGAACCCAAGAGGCAGAGGTTGCAGTGAGCTGAGATTGCACCACTGTACTCCAGTCTGGGTGACAGAGTGAGACTGTTTCAAAACACAAACAAACAAAAACTCAATTTAATTCAGGCCTGCCGCATGCTAACAAGCTTTTGGAGTACAATTGTCTCATCTGTTAAATGAAGAAAATTATGGTCAAAAGAGAAGATGGAATTTGTGAGAAATACCTAATAAAAGTGTCTATCGCACTTGGCAGCTCAAAACAGTCAAATAAATTTACCTATCACCCACTACACTGTTCCCTTTACAATCTAAAAACTAATCTAAAAGGGAAAAAATCTAATTAAACAATTATGTTTACCTGAAATAATCGTGCAATGGAGAGTAGCATTAATCCAAATAAAAAGCCATTGTACTGAAAATGAATAACTGGACTTAGGTCAAGGAAAGACAACAGAGGACACCAAATTCATAATGAACTATACCAGCTGATGGAGTATAGAAATTCCAAATGCTTTAATAGCAAAATTAAAGACAAAAAATACTACTACTAATGTGGACTGCTCATAAATATGTTTTCTATAAACAGATTCAAATTTTTTTTTTAATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCACAGTCTTGGCTCACTGCAGCCTCTGCCTCCTGGGTCCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATACCACCACACCCAGCTAATTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGTTTCGAACTCCTGACCTCGTGATTCCCCAACCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACTGCACCCGGCCTAAACACATATTTTTATTTTTGCTAATCTCTGTATCATTCCAATTTTGCTGAAGCAAACACCATAGTCAGATCTTTAATTGAAACTTACATTTGGGGGTGTGGTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCTGACATGGGCAGATCACTTGGGACCAGGCGTTCAAGATCAGCCTGGTTAACATGGCAAACCCCCGTCTCTACCGAAAATACAAAACTTAGTCAGATGTGGTGGCACACACCTGTAGTCCCAGCTACTCGGGAGGCTGAAGCATGAGAATCACCTGAACCCAGGAGGCGGACACTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGTCTGGGTGACAGAGCAAGAATGTCTCAAATTAAAAAAAAAAGAAAAGGAAAGAAACTTATGTTTAATGACATCTTAGACTAGATGATTTAAAATATATAAATTTTTTTTATTTAAAAACAAATTTATGTTTAAGAAGAAAAACAAAACTTTCCCAGGTTTTTCCTACCTTTTCTACCTTAAAGGCCCCGCAGCTCAGGGGCAAGAAGTTTTTTGTTTTTTAGAATTAGGGATGAGAAAGGAATGGACCTAACTGCTACTAAGGCCACCAGCATGCAGCATTGCATTGTTTATAGGACATATACAATCTTATGTATTAAGCCTCACAATGAACCTGTGAGGTATTTAGAATTTTCCTCTTTAGAGATACTTTAGAGATTAAGAAATTAAGCCTCAGAGACATTCATCTACTCATGGTTCTAAAGCTGCTAATGGCAACTAAGATTTGGGTCCAGGTTACATTGAAACCAGAGGCTGGGTGCTTTCCTCCACACCAGGCTACCTTTATGAAAACTGCAACTATTAGTTTCCATTACAAGGATTTTAATTACATCCAGAAGCCTTGAATTTAAAAACTTTGCCTTTTAATATGTGGTAAGCCAAGATGGTAGAAAAGCACAAATGCCTGACCATTCCCACACGCACACTGTGATATGCCTTTTCCAATTAAAGGTATTTGGAATAATGTGTTACAAAACTATTTAATATATATGTATCAGATTAATCTAAAAATAGTTCACAATCTCAGTACATTGTTTTATTGATGATTTAGCTGGTTCTCACATATCCCACTAATTTTTCAGAAATGAAATACTCTAACCTCAGAGTCCAGTGAAGTTGGGCAGAGACCACAGTTAAGTGAGCCTACTAACCCACCCCACACTCATTTTCAGAAGGAGCTCACATCTCCAATCATTATTATAGAAAACATTAATCTTGTATTAGTATACATCAGAATTAGTAAGGGAATAGTACATAGAATATCAAGGATACGGTCCACAATTAATAACCCGAAGTTCCACAGAAGTAATACCGACAGAATAAATTTTGGCTTTTCTGTAAGTTCTTTACCCACTTTTTTTCCATCAATGCATTTACAGCACCTACATTGAAACATTAGGAAAGAAACAGAAACAACTTTGATCTTCATCGGAACATCACTTCTGCAGAGTAAACTATGATACATTAGTCATTCCTGACAAACTACATGCCATTCTTTTTTTTT
|
Task1_train_16369
|
A variant found in Chromosome 11 affects ALG8 (ALG8 alpha-1,3-glucosyltransferase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
|
Pathogenic; ALG8 congenital disorder of glycosylation
|
CAAAAGAGAAGATGGAATTTGTGAGAAATACCTAATAAAAGTGTCTATCGCACTTGGCAGCTCAAAACAGTCAAATAAATTTACCTATCACCCACTACACTGTTCCCTTTACAATCTAAAAACTAATCTAAAAGGGAAAAAATCTAATTAAACAATTATGTTTACCTGAAATAATCGTGCAATGGAGAGTAGCATTAATCCAAATAAAAAGCCATTGTACTGAAAATGAATATCTGGACTTAGGTCAAGGAAAGACAACAGAGGACACCAAATTCATAATGAACTATACCAGCTGATGGAGTATAGAAATTCCAAATGCTTTAATAGCAAAATTAAAGACAAAAAATACTACTACTAATGTGGACTGCTCATAAATATGTTTTCTATAAACAGATTCAAATTTTTTTTTTAATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCACAGTCTTGGCTCACTGCAGCCTCTGCCTCCTGGGTCCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATACCACCACACCCAGCTAATTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGTTTCGAACTCCTGACCTCGTGATTCCCCAACCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACTGCACCCGGCCTAAACACATATTTTTATTTTTGCTAATCTCTGTATCATTCCAATTTTGCTGAAGCAAACACCATAGTCAGATCTTTAATTGAAACTTACATTTGGGGGTGTGGTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCTGACATGGGCAGATCACTTGGGACCAGGCGTTCAAGATCAGCCTGGTTAACATGGCAAACCCCCGTCTCTACCGAAAATACAAAACTTAGTCAGATGTGGTGGCACACACCTGTAGTCCCAGCTACTCGGGAGGCTGAAGCATGAGAATCACCTGAACCCAGGAGGCGGACACTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGTCTGGGTGACAGAGCAAGAATGTCTCAAATTAAAAAAAAAAGAAAAGGAAAGAAACTTATGTTTAATGACATCTTAGACTAGATGATTTAAAATATATAAATTTTTTTTATTTAAAAACAAATTTATGTTTAAGAAGAAAAACAAAACTTTCCCAGGTTTTTCCTACCTTTTCTACCTTAAAGGCCCCGCAGCTCAGGGGCAAGAAGTTTTTTGTTTTTTAGAATTAGGGATGAGAAAGGAATGGACCTAACTGCTACTAAGGCCACCAGCATGCAGCATTGCATTGTTTATAGGACATATACAATCTTATGTATTAAGCCTCACAATGAACCTGTGAGGTATTTAGAATTTTCCTCTTTAGAGATACTTTAGAGATTAAGAAATTAAGCCTCAGAGACATTCATCTACTCATGGTTCTAAAGCTGCTAATGGCAACTAAGATTTGGGTCCAGGTTACATTGAAACCAGAGGCTGGGTGCTTTCCTCCACACCAGGCTACCTTTATGAAAACTGCAACTATTAGTTTCCATTACAAGGATTTTAATTACATCCAGAAGCCTTGAATTTAAAAACTTTGCCTTTTAATATGTGGTAAGCCAAGATGGTAGAAAAGCACAAATGCCTGACCATTCCCACACGCACACTGTGATATGCCTTTTCCAATTAAAGGTATTTGGAATAATGTGTTACAAAACTATTTAATATATATGTATCAGATTAATCTAAAAATAGTTCACAATCTCAGTACATTGTTTTATTGATGATTTAGCTGGTTCTCACATATCCCACTAATTTTTCAGAAATGAAATACTCTAACCTCAGAGTCCAGTGAAGTTGGGCAGAGACCACAGTTAAGTGAGCCTACTAACCCACCCCACACTCATTTTCAGAAGGAGCTCACATCTCCAATCATTATTATAGAAAACATTAATCTTGTATTAGTATACATCAGAATTAGTAAGGGAATAGTACATAGAATATCAAGGATACGGTCCACAATTAATAACCCGAAGTTCCACAGAAGTAATACCGACAGAATAAATTTTGGCTTTTCTGTAAGTTCTTTACCCACTTTTTTTCCATCAATGCATTTACAGCACCTACATTGAAACATTAGGAAAGAAACAGAAACAACTTTGATCTTCATCGGAACATCACTTCTGCAGAGTAAACTATGATACATTAGTCATTCCTGACAAACTACATGCCATTCTTTTTTTTTTTTTTTTCCAATTTTTCTTTTTCTTTTTTTAGAAGGGATGGGGTATCACTGTTGCCCAGGCTGATCTCGAACTCCTGGGCTCAAGCAATCCTCCTGCCCTGGCACCCCAAAGTCCATGCCATTCTTTATTTCTTAAAAAGGTCACAGCAAGCCGAGCAGGGTGGCAGGTGCCTGGCTACTCAGGAGGCTGAAGTGAGAGGACCACTTGAGCTTGGGGTCTGAGGCCAGCCTGGGCGACATAGTAAGACCTTCTCACTAGAAAAAAAAAAAAAAAGAAAAAATGGTAGCACAAACAAGGACCTCGGGGCCTGTTCCACGTCTTTTTCTAAGCTGTGCTGATCTAAAACAAAGTCTTCATTTAACAAAATTAAAAATAAAAAGCCACGTAAACCCCAAAGTAAGGATTTTGAAAACTGAGAGAGCATACATTATTTCAGTCCTTAAGAGTAAAAACTGCAGACCAGGCTAATTTAACACTCTAAATTATATATCATAATACCAGCCAAATTAAGAACAGAACTGCAAATGTGCACCTCCTGACTGTCCAAATTATAATTTAAAAACCTTTATGTAAAAATGTATGTCATTTAAATGTTGAGATATATTACTAAGTGACAATAACAGGTGACAAAACAGTAAGATCCTATTTTTATTTTATGAAAATTATATTCGAACACAGAAAAGAGACTGAACTAACATACACCAAAATGTTAATAGTGATTAGTATACGTGGGGGAGTATGACTCATTTTTACTTTGCATGTGTGTGTGCTTTTCCAAAGTTTTTACAATGGGGATGTATTATTCTATAAAAAGACGATATTGAAAATGTGCTACATTTGAAGAGTGGCAAATTTTAACAATAAATCTAAAACAAATAATAGATGCAATTAAAGGGGGACTAGCAAAGGTATCCTCCTTTCGCCCTATGGAGCCTCAGTTCCCTCATGAATAGAGGCAGTAAACTTACAGGGTCACTGAGAAAATTAAATAAGTTAATAATCTGTATATCATGCTTGGTTCTGGGAACTGACACAGAGATTTCAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCAGTCTGTCGCCTAGGATGGAGTGCAGTGGCGTAATCACAGCTCACTGCAGCCTTGACCACCCAGGTTCAAGAGATCCTCTGCCTCAGGCTCCCAAGTAGCTGGGACAACAGTCCCCGGCAACCACAGCTGGCTAATTTTTGTATTTTTAGTAGAGGCAGGGTTTCACCATGTTATCCAGGCTGGTCTCAAACTCCTGAGCTCAAGCAATACACTAGCCTTGGCCTCCCAAAGTGCTGGGATTAAAGGCATGAGACACTATGCCTGGCCTTTCAACAATCTTTTTAACTATTCCCTCTACTTTGCAGATGGAAATGAATTCTATTTCCTCTCCCTTTGTGCTTGTATACTCTTCCCCTGGAAGCTTGAATTCAAACATTTTGAGTTAAAAAGAGTATATTAAAAATTACCTTCCCTTTCAACTCTTGCCAGGTCATAAACAGATTGAAAGGAAGGGTTTCAAACAGGATTATTCAATGAGAATGCGCAAGGGTTAAAGACATTCCCAAGGGACTCTTTACTGAGTGGGGCAAGGGTTCAGTGTAGAGGGCCTCACAAACAGAAACGATCCATTTATGACAAGGGTCACTGAATGAACACCAGTCACTGTTCTGTCACAATCACACCAGCGAGCTTAAGAGTTAGGAAAGAATGAGGTCGGTGCAGCGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGC
|
CAAAAGAGAAGATGGAATTTGTGAGAAATACCTAATAAAAGTGTCTATCGCACTTGGCAGCTCAAAACAGTCAAATAAATTTACCTATCACCCACTACACTGTTCCCTTTACAATCTAAAAACTAATCTAAAAGGGAAAAAATCTAATTAAACAATTATGTTTACCTGAAATAATCGTGCAATGGAGAGTAGCATTAATCCAAATAAAAAGCCATTGTACTGAAAATGAATATCTGGACTTAGGTCAAGGAAAGACAACAGAGGACACCAAATTCATAATGAACTATACCAGCTGATGGAGTATAGAAATTCCAAATGCTTTAATAGCAAAATTAAAGACAAAAAATACTACTACTAATGTGGACTGCTCATAAATATGTTTTCTATAAACAGATTCAAATTTTTTTTTTAATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCACAGTCTTGGCTCACTGCAGCCTCTGCCTCCTGGGTCCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATACCACCACACCCAGCTAATTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGTTTCGAACTCCTGACCTCGTGATTCCCCAACCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACTGCACCCGGCCTAAACACATATTTTTATTTTTGCTAATCTCTGTATCATTCCAATTTTGCTGAAGCAAACACCATAGTCAGATCTTTAATTGAAACTTACATTTGGGGGTGTGGTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCTGACATGGGCAGATCACTTGGGACCAGGCGTTCAAGATCAGCCTGGTTAACATGGCAAACCCCCGTCTCTACCGAAAATACAAAACTTAGTCAGATGTGGTGGCACACACCTGTAGTCCCAGCTACTCGGGAGGCTGAAGCATGAGAATCACCTGAACCCAGGAGGCGGACACTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGTCTGGGTGACAGAGCAAGAATGTCTCAAATTAAAAAAAAAAGAAAAGGAAAGAAACTTATGTTTAATGACATCTTAGACTAGATGATTTAAAATATATAAATTTTTTTTATTTAAAAACAAATTTATGTTTAAGAAGAAAAACAAAACTTTCCCAGGTTTTTCCTACCTTTTCTACCTTAAAGGCCCCGCAGCTCAGGGGCAAGAAGTTTTTTGTTTTTTAGAATTAGGGATGAGAAAGGAATGGACCTAACTGCTACTAAGGCCACCAGCATGCAGCATTGCATTGTTTATAGGACATATACAATCTTATGTATTAAGCCTCACAATGAACCTGTGAGGTATTTAGAATTTTCCTCTTTAGAGATACTTTAGAGATTAAGAAATTAAGCCTCAGAGACATTCATCTACTCATGGTTCTAAAGCTGCTAATGGCAACTAAGATTTGGGTCCAGGTTACATTGAAACCAGAGGCTGGGTGCTTTCCTCCACACCAGGCTACCTTTATGAAAACTGCAACTATTAGTTTCCATTACAAGGATTTTAATTACATCCAGAAGCCTTGAATTTAAAAACTTTGCCTTTTAATATGTGGTAAGCCAAGATGGTAGAAAAGCACAAATGCCTGACCATTCCCACACGCACACTGTGATATGCCTTTTCCAATTAAAGGTATTTGGAATAATGTGTTACAAAACTATTTAATATATATGTATCAGATTAATCTAAAAATAGTTCACAATCTCAGTACATTGTTTTATTGATGATTTAGCTGGTTCTCACATATCCCACTAATTTTTCAGAAATGAAATACTCTAACCTCAGAGTCCAGTGAAGTTGGGCAGAGACCACAGTTAAGTGAGCCTACTAACCCACCCCACACTCATTTTCAGAAGGAGCTCACATCTCCAATCATTATTATAGAAAACATTAATCTTGTATTAGTATACATCAGAATTAGTAAGGGAATAGTACATAGAATATCAAGGATACAGTCCACAATTAATAACCCGAAGTTCCACAGAAGTAATACCGACAGAATAAATTTTGGCTTTTCTGTAAGTTCTTTACCCACTTTTTTTCCATCAATGCATTTACAGCACCTACATTGAAACATTAGGAAAGAAACAGAAACAACTTTGATCTTCATCGGAACATCACTTCTGCAGAGTAAACTATGATACATTAGTCATTCCTGACAAACTACATGCCATTCTTTTTTTTTTTTTTTTCCAATTTTTCTTTTTCTTTTTTTAGAAGGGATGGGGTATCACTGTTGCCCAGGCTGATCTCGAACTCCTGGGCTCAAGCAATCCTCCTGCCCTGGCACCCCAAAGTCCATGCCATTCTTTATTTCTTAAAAAGGTCACAGCAAGCCGAGCAGGGTGGCAGGTGCCTGGCTACTCAGGAGGCTGAAGTGAGAGGACCACTTGAGCTTGGGGTCTGAGGCCAGCCTGGGCGACATAGTAAGACCTTCTCACTAGAAAAAAAAAAAAAAAGAAAAAATGGTAGCACAAACAAGGACCTCGGGGCCTGTTCCACGTCTTTTTCTAAGCTGTGCTGATCTAAAACAAAGTCTTCATTTAACAAAATTAAAAATAAAAAGCCACGTAAACCCCAAAGTAAGGATTTTGAAAACTGAGAGAGCATACATTATTTCAGTCCTTAAGAGTAAAAACTGCAGACCAGGCTAATTTAACACTCTAAATTATATATCATAATACCAGCCAAATTAAGAACAGAACTGCAAATGTGCACCTCCTGACTGTCCAAATTATAATTTAAAAACCTTTATGTAAAAATGTATGTCATTTAAATGTTGAGATATATTACTAAGTGACAATAACAGGTGACAAAACAGTAAGATCCTATTTTTATTTTATGAAAATTATATTCGAACACAGAAAAGAGACTGAACTAACATACACCAAAATGTTAATAGTGATTAGTATACGTGGGGGAGTATGACTCATTTTTACTTTGCATGTGTGTGTGCTTTTCCAAAGTTTTTACAATGGGGATGTATTATTCTATAAAAAGACGATATTGAAAATGTGCTACATTTGAAGAGTGGCAAATTTTAACAATAAATCTAAAACAAATAATAGATGCAATTAAAGGGGGACTAGCAAAGGTATCCTCCTTTCGCCCTATGGAGCCTCAGTTCCCTCATGAATAGAGGCAGTAAACTTACAGGGTCACTGAGAAAATTAAATAAGTTAATAATCTGTATATCATGCTTGGTTCTGGGAACTGACACAGAGATTTCAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCAGTCTGTCGCCTAGGATGGAGTGCAGTGGCGTAATCACAGCTCACTGCAGCCTTGACCACCCAGGTTCAAGAGATCCTCTGCCTCAGGCTCCCAAGTAGCTGGGACAACAGTCCCCGGCAACCACAGCTGGCTAATTTTTGTATTTTTAGTAGAGGCAGGGTTTCACCATGTTATCCAGGCTGGTCTCAAACTCCTGAGCTCAAGCAATACACTAGCCTTGGCCTCCCAAAGTGCTGGGATTAAAGGCATGAGACACTATGCCTGGCCTTTCAACAATCTTTTTAACTATTCCCTCTACTTTGCAGATGGAAATGAATTCTATTTCCTCTCCCTTTGTGCTTGTATACTCTTCCCCTGGAAGCTTGAATTCAAACATTTTGAGTTAAAAAGAGTATATTAAAAATTACCTTCCCTTTCAACTCTTGCCAGGTCATAAACAGATTGAAAGGAAGGGTTTCAAACAGGATTATTCAATGAGAATGCGCAAGGGTTAAAGACATTCCCAAGGGACTCTTTACTGAGTGGGGCAAGGGTTCAGTGTAGAGGGCCTCACAAACAGAAACGATCCATTTATGACAAGGGTCACTGAATGAACACCAGTCACTGTTCTGTCACAATCACACCAGCGAGCTTAAGAGTTAGGAAAGAATGAGGTCGGTGCAGCGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGC
|
Task1_train_16370
|
Gene ALG8 (ALG8 alpha-1,3-glucosyltransferase) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign?
|
Pathogenic; ALG8 congenital disorder of glycosylation
|
TTGCACCTATACAACAGGGATAGTAGTATCTACCTCATGGGTTATGGTATTCCATTTTATATATACATATAAAATACTATATATGGTATCGAAACTCATAGGAAACTTGCAAAAAATTTGCCTTAAAAAAAACTCCCTGGGCCGGGCATAGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAAACCAGCCTGACCAACGTGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAAATTTCCTGGGCATGGTAGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGAATCGCTTACTCAGGAGGCTAAAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTCGCCAGTCAGCCGAGATCGTGCCATTGCACTCCGGCCTGGGTGAGAGTGAGACTTCGTCTCAAAAGAAAAGAAAACAAAACAAAATCCAACTCCCTGTCAGCAGAGTACTGCTTTTCATCAAGAAATTTCTGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAGAAGAAATTTCTGGAGTAATGTCTGTTTTTCATAAAGTATTACACACAGTTTAGTAATTCATACCAGAAACAAAAATACAAGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCAGTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCCGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCCCCTCTTTACTAAAAATACAAAAATTAACTGGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAGGAAAAGAAAAAGAAATAAAAATACAGACATAGTTTTTATAAACAATATGAGAGAATGGTTTGTATATTACCTGATGTCTACACATCACATTTGATTATTCCTTTCCTCACAAAATCACAAAACATTAGGAACAGACAGGATCTTAGAAATAATTCACTCCAAATCCTCATGTGCCAGATGAGACACTAAGGCCCAGAGACATGAAGTATCTTTTCTCTATGTAACTAGATAGTGGCAGAGCCAGGCCTAAGAATCCAGTTCTTCCTCTTTCCCAGTCCACTATTCTTTCAAAAAGTGTGGTAGATATTATACCTCCCAATTTATAGACTGGGAAACTCATTTTGAAGTAAGGGGATTCCCTAGTAGTGCAAGAGGACAGAACTGAGAAGAGACCACAATTTTTATAAAGATTAATTAGATCTATGATTGCAAGAAAATTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTTTCCTGCCTCAGCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCCAACCCCTGACCTCATGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCGCACCCAGCCAGAAAACATTTTTAATATCAGTAATATTTACCTAGTTTATAGATGAATCTTAAAAAAAAAAAGGTGAAAATTAAAACTTACCTCATAATACCACTGTGATATTGGCAAACTGTGAGTGATAGCAAGCCAGTTTCGGTGTACTTCAAAATCTGTGGAATGGCTACTCAAAACAATTAGATAAATAAAATGAGATTTTGCAATATTTATCAATTTCTAATTCCCATAGTTATGCTTTTAAATGGACTGACATTCCCTAAGCTGTCACAGCTCACTGTCCTATAGAGACACAAATAGACATTACATAATCCTGTAAAACCTCATTTATCTGGAGGTCAGATCTTCTAGAAAGTTGTTGAGCAATCTACAAGTCAGTGAAAAGGGTCTCAGAACTACCTAAAGGGCTGACAAGAAGCCCAGACTTTCTCTTTTTCTTTTCTTTTTTTTTTTTTTTGAGGCGGAGTCTCCTTCTGTCACCCAGGCTGGAGTGTAGTGGACCCATCTCAGCTCACTGCAACTGCCGCCCCCCGGGTTCACGCGAGTCTCCTGTCTCAGCCTCCCGAGCAGCTGAGACTACAGGCATGTACCACCAATCCTGGCTAATTTTTAGTAGAGGTGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTAGCCCAAACTTTTTCTTACAGGCGGCCCTCAGGCCTTTGCTCAGAAGTGACTTCCTCTTGCTCACAAACAATTCTAACAAAATTCATTACCTGAAAAAGGCCTCATATACCAAGACATAAGGATGAGGAGTTCATCTGACAGAGAAGGTGGGAAAAGATCCTTGCTTTGCCTTTCCCATGTCTCCAAATTCTCCCTCTTCCCATCACTATACATATCTAAGGATCACCTATCTTTAGAAAAAATCTTTTCCTGTTTGTCCACTGCTGTACCTCCCCTCCACATTTAGAACAGTACCTGACGCATGGACAAGCTCAATACATTCTTGCTGAATATCCACTCACCAAAGTGAACAATGAGTTCCACAGCAAAGCCCAATTTACCCTTTCCAACATTTTACACAACCTTTCCACAATGACAACTTTCTCCTACCTCCAGCCAACCCTTCTTTCTCAGTCATGGCTTTCCCTTCCTATATTCATCAGGGACATGTTGATATTCCCCTAGGTTCAGTTCTTGGTCCCCTTTTTACGCAACTTATTCTGCTCTGGACAATCTTATGCAAACTTTCTGGTTCCACTGTCAATTGTATAATGATGACTCCCAAATTACTTTTTTTTTTTTTTTTGGAGACGGAGTCTCGCTCTGTTGCCAGGCTGGAGTGCAGTAGTGCGATCTTGGCTCACTGCAAACTCCGTCTCCCAGGTTCAAACGACTCCCCTGCCCCAGCCACCCAAGTAGCTGGGACTACAGGTGCGCGGCACCACGCCTGGCTAATTTTTTTTTTTGTATTTTAGTAGAGATGGGGTTTTACTGTGTTGGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCAGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTGGCCTACTCCCAAATTTCAATATGCAACATTGGCTTCTTTACTAAGTTGTGGAGACAGACACCTCCAACTTCCTGTTAACAATCTCACTTGAATTTCCTACAGATATTTCAAAATCTCCACTCAGAACTGAATTGATGACCCATCCATCCCAAGTCTAAGTACGTATACCCAACAGAAATGCATAGTATGCTCACTAAAAGACACGTACTGTAAGAATGTGCAAAGTGGGGCCGGGCGCGGTGGCTCACACCTGTAATTCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTAGTAAAAATATAAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAATGTGC
|
TTGCACCTATACAACAGGGATAGTAGTATCTACCTCATGGGTTATGGTATTCCATTTTATATATACATATAAAATACTATATATGGTATCGAAACTCATAGGAAACTTGCAAAAAATTTGCCTTAAAAAAAACTCCCTGGGCCGGGCATAGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAAACCAGCCTGACCAACGTGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAAATTTCCTGGGCATGGTAGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGAATCGCTTACTCAGGAGGCTAAAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTCGCCAGTCAGCCGAGATCGTGCCATTGCACTCCGGCCTGGGTGAGAGTGAGACTTCGTCTCAAAAGAAAAGAAAACAAAACAAAATCCAACTCCCTGTCAGCAGAGTACTGCTTTTCATCAAGAAATTTCTGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAGAAGAAATTTCTGGAGTAATGTCTGTTTTTCATAAAGTATTACACACAGTTTAGTAATTCATACCAGAAACAAAAATACAAGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCAGTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCCGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCCCCTCTTTACTAAAAATACAAAAATTAACTGGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAGGAAAAGAAAAAGAAATAAAAATACAGACATAGTTTTTATAAACAATATGAGAGAATGGTTTGTATATTACCTGATGTCTACACATCACATTTGATTATTCCTTTCCTCACAAAATCACAAAACATTAGGAACAGACAGGATCTTAGAAATAATTCACTCCAAATCCTCATGTGCCAGATGAGACACTAAGGCCCAGAGACATGAAGTATCTTTTCTCTATGTAACTAGATAGTGGCAGAGCCAGGCCTAAGAATCCAGTTCTTCCTCTTTCCCAGTCCACTATTCTTTCAAAAAGTGTGGTAGATATTATACCTCCCAATTTATAGACTGGGAAACTCATTTTGAAGTAAGGGGATTCCCTAGTAGTGCAAGAGGACAGAACTGAGAAGAGACCACAATTTTTATAAAGATTAATTAGATCTATGATTGCAAGAAAATTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTTTCCTGCCTCAGCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCCAACCCCTGACCTCATGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCGCACCCAGCCAGAAAACATTTTTAATATCAGTAATATTTACCTAGTTTATAGATGAATCTTAAAAAAAAAAAGGTGAAAATTAAAACTTACCTCATAATACCACTGTGATATTGGCAAACTGTGAGGGATAGCAAGCCAGTTTCGGTGTACTTCAAAATCTGTGGAATGGCTACTCAAAACAATTAGATAAATAAAATGAGATTTTGCAATATTTATCAATTTCTAATTCCCATAGTTATGCTTTTAAATGGACTGACATTCCCTAAGCTGTCACAGCTCACTGTCCTATAGAGACACAAATAGACATTACATAATCCTGTAAAACCTCATTTATCTGGAGGTCAGATCTTCTAGAAAGTTGTTGAGCAATCTACAAGTCAGTGAAAAGGGTCTCAGAACTACCTAAAGGGCTGACAAGAAGCCCAGACTTTCTCTTTTTCTTTTCTTTTTTTTTTTTTTTGAGGCGGAGTCTCCTTCTGTCACCCAGGCTGGAGTGTAGTGGACCCATCTCAGCTCACTGCAACTGCCGCCCCCCGGGTTCACGCGAGTCTCCTGTCTCAGCCTCCCGAGCAGCTGAGACTACAGGCATGTACCACCAATCCTGGCTAATTTTTAGTAGAGGTGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTAGCCCAAACTTTTTCTTACAGGCGGCCCTCAGGCCTTTGCTCAGAAGTGACTTCCTCTTGCTCACAAACAATTCTAACAAAATTCATTACCTGAAAAAGGCCTCATATACCAAGACATAAGGATGAGGAGTTCATCTGACAGAGAAGGTGGGAAAAGATCCTTGCTTTGCCTTTCCCATGTCTCCAAATTCTCCCTCTTCCCATCACTATACATATCTAAGGATCACCTATCTTTAGAAAAAATCTTTTCCTGTTTGTCCACTGCTGTACCTCCCCTCCACATTTAGAACAGTACCTGACGCATGGACAAGCTCAATACATTCTTGCTGAATATCCACTCACCAAAGTGAACAATGAGTTCCACAGCAAAGCCCAATTTACCCTTTCCAACATTTTACACAACCTTTCCACAATGACAACTTTCTCCTACCTCCAGCCAACCCTTCTTTCTCAGTCATGGCTTTCCCTTCCTATATTCATCAGGGACATGTTGATATTCCCCTAGGTTCAGTTCTTGGTCCCCTTTTTACGCAACTTATTCTGCTCTGGACAATCTTATGCAAACTTTCTGGTTCCACTGTCAATTGTATAATGATGACTCCCAAATTACTTTTTTTTTTTTTTTTGGAGACGGAGTCTCGCTCTGTTGCCAGGCTGGAGTGCAGTAGTGCGATCTTGGCTCACTGCAAACTCCGTCTCCCAGGTTCAAACGACTCCCCTGCCCCAGCCACCCAAGTAGCTGGGACTACAGGTGCGCGGCACCACGCCTGGCTAATTTTTTTTTTTGTATTTTAGTAGAGATGGGGTTTTACTGTGTTGGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCAGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTGGCCTACTCCCAAATTTCAATATGCAACATTGGCTTCTTTACTAAGTTGTGGAGACAGACACCTCCAACTTCCTGTTAACAATCTCACTTGAATTTCCTACAGATATTTCAAAATCTCCACTCAGAACTGAATTGATGACCCATCCATCCCAAGTCTAAGTACGTATACCCAACAGAAATGCATAGTATGCTCACTAAAAGACACGTACTGTAAGAATGTGCAAAGTGGGGCCGGGCGCGGTGGCTCACACCTGTAATTCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTAGTAAAAATATAAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAATGTGC
|
Task1_train_16371
|
Here is a genetic alteration in ALG8 (ALG8 alpha-1,3-glucosyltransferase) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; Polycystic liver disease 3 with or without kidney cysts
|
TTGCACCTATACAACAGGGATAGTAGTATCTACCTCATGGGTTATGGTATTCCATTTTATATATACATATAAAATACTATATATGGTATCGAAACTCATAGGAAACTTGCAAAAAATTTGCCTTAAAAAAAACTCCCTGGGCCGGGCATAGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAAACCAGCCTGACCAACGTGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAAATTTCCTGGGCATGGTAGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGAATCGCTTACTCAGGAGGCTAAAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTCGCCAGTCAGCCGAGATCGTGCCATTGCACTCCGGCCTGGGTGAGAGTGAGACTTCGTCTCAAAAGAAAAGAAAACAAAACAAAATCCAACTCCCTGTCAGCAGAGTACTGCTTTTCATCAAGAAATTTCTGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAGAAGAAATTTCTGGAGTAATGTCTGTTTTTCATAAAGTATTACACACAGTTTAGTAATTCATACCAGAAACAAAAATACAAGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCAGTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCCGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCCCCTCTTTACTAAAAATACAAAAATTAACTGGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAGGAAAAGAAAAAGAAATAAAAATACAGACATAGTTTTTATAAACAATATGAGAGAATGGTTTGTATATTACCTGATGTCTACACATCACATTTGATTATTCCTTTCCTCACAAAATCACAAAACATTAGGAACAGACAGGATCTTAGAAATAATTCACTCCAAATCCTCATGTGCCAGATGAGACACTAAGGCCCAGAGACATGAAGTATCTTTTCTCTATGTAACTAGATAGTGGCAGAGCCAGGCCTAAGAATCCAGTTCTTCCTCTTTCCCAGTCCACTATTCTTTCAAAAAGTGTGGTAGATATTATACCTCCCAATTTATAGACTGGGAAACTCATTTTGAAGTAAGGGGATTCCCTAGTAGTGCAAGAGGACAGAACTGAGAAGAGACCACAATTTTTATAAAGATTAATTAGATCTATGATTGCAAGAAAATTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTTTCCTGCCTCAGCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCCAACCCCTGACCTCATGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCGCACCCAGCCAGAAAACATTTTTAATATCAGTAATATTTACCTAGTTTATAGATGAATCTTAAAAAAAAAAAGGTGAAAATTAAAACTTACCTCATAATACCACTGTGATATTGGCAAACTGTGAGTGATAGCAAGCCAGTTTCGGTGTACTTCAAAATCTGTGGAATGGCTACTCAAAACAATTAGATAAATAAAATGAGATTTTGCAATATTTATCAATTTCTAATTCCCATAGTTATGCTTTTAAATGGACTGACATTCCCTAAGCTGTCACAGCTCACTGTCCTATAGAGACACAAATAGACATTACATAATCCTGTAAAACCTCATTTATCTGGAGGTCAGATCTTCTAGAAAGTTGTTGAGCAATCTACAAGTCAGTGAAAAGGGTCTCAGAACTACCTAAAGGGCTGACAAGAAGCCCAGACTTTCTCTTTTTCTTTTCTTTTTTTTTTTTTTTGAGGCGGAGTCTCCTTCTGTCACCCAGGCTGGAGTGTAGTGGACCCATCTCAGCTCACTGCAACTGCCGCCCCCCGGGTTCACGCGAGTCTCCTGTCTCAGCCTCCCGAGCAGCTGAGACTACAGGCATGTACCACCAATCCTGGCTAATTTTTAGTAGAGGTGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTAGCCCAAACTTTTTCTTACAGGCGGCCCTCAGGCCTTTGCTCAGAAGTGACTTCCTCTTGCTCACAAACAATTCTAACAAAATTCATTACCTGAAAAAGGCCTCATATACCAAGACATAAGGATGAGGAGTTCATCTGACAGAGAAGGTGGGAAAAGATCCTTGCTTTGCCTTTCCCATGTCTCCAAATTCTCCCTCTTCCCATCACTATACATATCTAAGGATCACCTATCTTTAGAAAAAATCTTTTCCTGTTTGTCCACTGCTGTACCTCCCCTCCACATTTAGAACAGTACCTGACGCATGGACAAGCTCAATACATTCTTGCTGAATATCCACTCACCAAAGTGAACAATGAGTTCCACAGCAAAGCCCAATTTACCCTTTCCAACATTTTACACAACCTTTCCACAATGACAACTTTCTCCTACCTCCAGCCAACCCTTCTTTCTCAGTCATGGCTTTCCCTTCCTATATTCATCAGGGACATGTTGATATTCCCCTAGGTTCAGTTCTTGGTCCCCTTTTTACGCAACTTATTCTGCTCTGGACAATCTTATGCAAACTTTCTGGTTCCACTGTCAATTGTATAATGATGACTCCCAAATTACTTTTTTTTTTTTTTTTGGAGACGGAGTCTCGCTCTGTTGCCAGGCTGGAGTGCAGTAGTGCGATCTTGGCTCACTGCAAACTCCGTCTCCCAGGTTCAAACGACTCCCCTGCCCCAGCCACCCAAGTAGCTGGGACTACAGGTGCGCGGCACCACGCCTGGCTAATTTTTTTTTTTGTATTTTAGTAGAGATGGGGTTTTACTGTGTTGGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCAGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTGGCCTACTCCCAAATTTCAATATGCAACATTGGCTTCTTTACTAAGTTGTGGAGACAGACACCTCCAACTTCCTGTTAACAATCTCACTTGAATTTCCTACAGATATTTCAAAATCTCCACTCAGAACTGAATTGATGACCCATCCATCCCAAGTCTAAGTACGTATACCCAACAGAAATGCATAGTATGCTCACTAAAAGACACGTACTGTAAGAATGTGCAAAGTGGGGCCGGGCGCGGTGGCTCACACCTGTAATTCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTAGTAAAAATATAAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAATGTGC
|
TTGCACCTATACAACAGGGATAGTAGTATCTACCTCATGGGTTATGGTATTCCATTTTATATATACATATAAAATACTATATATGGTATCGAAACTCATAGGAAACTTGCAAAAAATTTGCCTTAAAAAAAACTCCCTGGGCCGGGCATAGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAAACCAGCCTGACCAACGTGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAAATTTCCTGGGCATGGTAGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGAATCGCTTACTCAGGAGGCTAAAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTCGCCAGTCAGCCGAGATCGTGCCATTGCACTCCGGCCTGGGTGAGAGTGAGACTTCGTCTCAAAAGAAAAGAAAACAAAACAAAATCCAACTCCCTGTCAGCAGAGTACTGCTTTTCATCAAGAAATTTCTGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAGAAGAAATTTCTGGAGTAATGTCTGTTTTTCATAAAGTATTACACACAGTTTAGTAATTCATACCAGAAACAAAAATACAAGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCAGTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCCGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCCCCTCTTTACTAAAAATACAAAAATTAACTGGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAGGAAAAGAAAAAGAAATAAAAATACAGACATAGTTTTTATAAACAATATGAGAGAATGGTTTGTATATTACCTGATGTCTACACATCACATTTGATTATTCCTTTCCTCACAAAATCACAAAACATTAGGAACAGACAGGATCTTAGAAATAATTCACTCCAAATCCTCATGTGCCAGATGAGACACTAAGGCCCAGAGACATGAAGTATCTTTTCTCTATGTAACTAGATAGTGGCAGAGCCAGGCCTAAGAATCCAGTTCTTCCTCTTTCCCAGTCCACTATTCTTTCAAAAAGTGTGGTAGATATTATACCTCCCAATTTATAGACTGGGAAACTCATTTTGAAGTAAGGGGATTCCCTAGTAGTGCAAGAGGACAGAACTGAGAAGAGACCACAATTTTTATAAAGATTAATTAGATCTATGATTGCAAGAAAATTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTTTCCTGCCTCAGCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTCTCCAACCCCTGACCTCATGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCGCACCCAGCCAGAAAACATTTTTAATATCAGTAATATTTACCTAGTTTATAGATGAATCTTAAAAAAAAAAAGGTGAAAATTAAAACTTACCTCATAATACCACTGTGATATTGGCAAACTGTGAGGGATAGCAAGCCAGTTTCGGTGTACTTCAAAATCTGTGGAATGGCTACTCAAAACAATTAGATAAATAAAATGAGATTTTGCAATATTTATCAATTTCTAATTCCCATAGTTATGCTTTTAAATGGACTGACATTCCCTAAGCTGTCACAGCTCACTGTCCTATAGAGACACAAATAGACATTACATAATCCTGTAAAACCTCATTTATCTGGAGGTCAGATCTTCTAGAAAGTTGTTGAGCAATCTACAAGTCAGTGAAAAGGGTCTCAGAACTACCTAAAGGGCTGACAAGAAGCCCAGACTTTCTCTTTTTCTTTTCTTTTTTTTTTTTTTTGAGGCGGAGTCTCCTTCTGTCACCCAGGCTGGAGTGTAGTGGACCCATCTCAGCTCACTGCAACTGCCGCCCCCCGGGTTCACGCGAGTCTCCTGTCTCAGCCTCCCGAGCAGCTGAGACTACAGGCATGTACCACCAATCCTGGCTAATTTTTAGTAGAGGTGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTAGCCCAAACTTTTTCTTACAGGCGGCCCTCAGGCCTTTGCTCAGAAGTGACTTCCTCTTGCTCACAAACAATTCTAACAAAATTCATTACCTGAAAAAGGCCTCATATACCAAGACATAAGGATGAGGAGTTCATCTGACAGAGAAGGTGGGAAAAGATCCTTGCTTTGCCTTTCCCATGTCTCCAAATTCTCCCTCTTCCCATCACTATACATATCTAAGGATCACCTATCTTTAGAAAAAATCTTTTCCTGTTTGTCCACTGCTGTACCTCCCCTCCACATTTAGAACAGTACCTGACGCATGGACAAGCTCAATACATTCTTGCTGAATATCCACTCACCAAAGTGAACAATGAGTTCCACAGCAAAGCCCAATTTACCCTTTCCAACATTTTACACAACCTTTCCACAATGACAACTTTCTCCTACCTCCAGCCAACCCTTCTTTCTCAGTCATGGCTTTCCCTTCCTATATTCATCAGGGACATGTTGATATTCCCCTAGGTTCAGTTCTTGGTCCCCTTTTTACGCAACTTATTCTGCTCTGGACAATCTTATGCAAACTTTCTGGTTCCACTGTCAATTGTATAATGATGACTCCCAAATTACTTTTTTTTTTTTTTTTGGAGACGGAGTCTCGCTCTGTTGCCAGGCTGGAGTGCAGTAGTGCGATCTTGGCTCACTGCAAACTCCGTCTCCCAGGTTCAAACGACTCCCCTGCCCCAGCCACCCAAGTAGCTGGGACTACAGGTGCGCGGCACCACGCCTGGCTAATTTTTTTTTTTGTATTTTAGTAGAGATGGGGTTTTACTGTGTTGGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCAGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTGGCCTACTCCCAAATTTCAATATGCAACATTGGCTTCTTTACTAAGTTGTGGAGACAGACACCTCCAACTTCCTGTTAACAATCTCACTTGAATTTCCTACAGATATTTCAAAATCTCCACTCAGAACTGAATTGATGACCCATCCATCCCAAGTCTAAGTACGTATACCCAACAGAAATGCATAGTATGCTCACTAAAAGACACGTACTGTAAGAATGTGCAAAGTGGGGCCGGGCGCGGTGGCTCACACCTGTAATTCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTAGTAAAAATATAAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAATGTGC
|
Task1_train_16372
|
This variant affects the gene NARS2 (asparaginyl-tRNA synthetase 2, mitochondrial) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
|
Pathogenic; Combined oxidative phosphorylation defect type 24
|
ACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAGAAAAGAAAAGCACTATTATTACTAGTTAAGGTTGTTGGGAGGCACACACAGACAAGGGACACAGAGATATAACTTTCATTCTTCAACATTAAAACAATAATATAGATTCTGAGGCTGCCTTCATAATATGGTTGCACATTGATTCTTGTTTGAGAACTATTAATAAAATTTTAAATTCTTAGTGGTAATTGAAATTCAACTCAGCCCTTTAAAAAATGTGTTTTGGACCACAGTGCATCTAATGTGACCAGGAATATGAAAAATTCAAATATACAAAAATACAGAAAACATGAAGAGCAGCCATAGACAGATCCCTGAAATAGGGAATCATATATATCCACTTCATTACGAAAGACAGATGTGGCTATTATCAGGTATTAGGTAAACATTTAATGTTACGAGGAAAGGTTTCCTGGAGGAAGGAAGCAAGCAAAGAAAACAGACCAATTAATCTTTCAACAGATGAGGTTTCTTGCCATGTGTGATTTTTATTGTGCTTTTTAAAAAACATAGAGAATACTCAGATTTTTTCAACTAGAGTCTGACCTTCAATTCCACAACTTTCTCAGGACTTTTTTAATGCTGTAATAGTAGTAAGGAGTTAGTCGTCTAACGAATACAGTCTTCCTCAAACCTATTTATCCATCCCCTTTCTTTTGGATCCTAACCCAGTAGAGCAGTTCAGATGAGTGGGATAACAAAACTAAGTTACCCAGGAGATTTACATATAGGTTGAGACCTTGAAAAAGCATCAACTTTTAAAGCATTTCCCCATTAGGAAAAGAAGGCCTCACAAATGGCTAACAGAATATTTTTAAACAATTATGGCTTTTCCAGATTACTATGAAACCCAGTACTATCTGGAGAGAATGAAGCATACAGACATGGTAAAGTCTTTCTTTTTTTTTTTTTAAGTCTGGCAGTACTTTTACTAAAGTAGGAATCATGGAAAACAGGTATGGTTAGTTTAGGAAGTCATTATGGCATATAAATGTATATGTAGGAGTGGCGGTTCAATTGAAACATGATTCCTTACTTCCCATCTCCAAAACATTCTCTATGTGTTTACAGATTTGTTTCCCAGTTCTCAAACAGCAAGTTAGAATAAAGTTATTCAAATAGCTAAATCAAGACCCTTACATAGAAGAGAATCTGAGGAAGTGAAATGTGCTTATTCTAAATGCTATCTGACTAGTTTTCTTTCCCCAACTTCATCCTTTCCCTGGCTCAGAGTTTGTCTTTATGTCCTTATAGAAGTCTGCCAATCATAATTGAGAGTAAATAAAGAACACAGATAAGATAAAAATGTAGGACAAGCTGGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGATCAAGACCATCCCGGCTAACACGGTGAAACTCTGTCTCTACTAAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACACAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAATTAAAAAAAAATGTAGGACAAGCTTTAAGGGGGAACTCTCTCTTCACATTTTAACTTTTTAAAAAGCTACTTTCCATAGGGAAAGGTTTGTAAAAATGGGCAAATATCACTGTGGGTTTTTCATGTAAGAGTTCCATTCCTGAAGAACGGGAAGCTCAGAGATAAACTAACAACTTGCTCAAGGACATAGAGAATCTGAGATCCAGTTCTGTCAGGCGCCGAGGCCCAGGGTCTTCACTCTGTTACTATGCAATGACCACCTTTGAGCGCCTTATGCTCAATTTCTCAATTGTGTTTCTTTTAGGTCTGACCAGTACCTGGCTAAGCGCTCCTCTAAGAAATGGTATCGTTCTTCTCTGAGGCCTCCTCCAAAGAGTTCCCCAACTCCAGGAACCAGAAGATCAACAGCAGCAACCTAAGGAAAAAAAAAAAATTATTAGCATTATATTTTCAGGTGATTCCAACAGTCAGTTTCTGAAGCAAGTAAACCTTTAACATTTTGGCAATGGCTAATTAACTACCTACCAGAATCTTACTGACTACATACAAATTATAAGTGGACAATTTCCTCTCTCTTGCACCATTTGTGTAGTATACTGAACACAAATGTATTTTCTTCATAAATGTGATAGAAATGTTAATTATAAAAATGTGGATAGTGTTAAAAATTATGAAACATTAAAAATCACCTATCAGTACCAGAAAATTACATTTTTGTGGATTTCCTTTCAAATTTTTTCCCTTATACATTTATAAAGTATAATTACAGATAAAAACTTACCACTTGTCTTACCTAATATTACAAACTAATATTTTTCCTATATTAGTAAAAATACTTCACATTATGTTTTAATAGCTTTAATGTTTAATAGTTTATTGATTAGAATTATAATTATTTAACTGCTTTCCTTTTTAGTTGAACATTTAAGGTGTGTATATTTTTGTCTGTTTTTTCTTATAATGTGGCAATGAAGAGTTTAATTTGTAGTATTGTTATTAGGACATATAAAATAAATTCTGATTATTAATCAAAGAAGTATAAAATTAAAAAAACAAGATACCATTCTGGAGTTATCAAAATGGAGATGATGGCTGGGCACAGTAGCTCACACCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGCAGACTGCCTGAGCTCAGGAGTTCAAGACCACCTTGGGGGCAACATGGTACAACCCCCGTCTCTACTAAAATACAAAAAATTAACTGGGCTTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTAAACCCAGGAGGTGGAGGTCACAGCGAGCCAAGATTGCACCACTGCATTCTAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAACAAAACAAAAAAAAAAAAAAGGGTGATAAGAAAATAATATATCTGCAAGACTAAGTCTGAAAGAAAAAATATAGGAAAATAAAATAAAGAATACAGATTATAGAATGGATAAACCAATAAGCTCATATAACTGATACAACTTTTCTGGTCAGCAATTTGGCAACAGATAACCAAACGCCTGAAAAATGCAATATGTTTTGACTCAGCAAGCAGTTCAAGGAACCTATCCTAAGAAAATCAGAGATGCAAAAAAAGATTAACATGCAAGATGTTTATTACAGCATTACTTATGACAAAAAGTTCAAATGTACATCAACAGACTATTAGATAAGTTTTAGACATGGATAGAAAAAAGACTATCATCTACATAATGAGATGTTGTGTTGCTACTGTGATGAGATTACAAGTATTTTAAAATTGTTTTCCTCTTTTATTTGTATTTTCTTATTTTCTATACTAAACAGGTATTATAGTTTTATAATAGAAAACATCAAAAAACTCTTAGTAAGGGAAAATGATAGCTTAATATTTTAATTTGTATTTCTTCAATTACTAATTAGTATTACTAAATTAATTATATTTCTTCAATTATTAAATTAGTAATATTTAATTTTTCAGGCCGGGTGCGGTGGCTTACGCCTGTAATCCCAATACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTAGTGAAACCCCCTCTCTGCCAAAAATACAAAAATTAGCCAAGTGCAGTGGCGCATGCCTGTAGTCCCAGCTGTTCTGGAGGCTGAGGCACGAAGAATTGCTTGAACTTATGAGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGTACTCCAGCCTGGATGACAAAGCGAGATTTTGTCTGTCTCCCAAAAAACAATTAAAAAAATTTTTTTTAAATGTTTATTTGTGGCTGGGCACAGTGGCATGTGCTTGTAGTCTTGGCTACTTGGGAAGCTGAGGTGGGAGGACTGCTTGAGGCCAGGAATTTGAGACCAGCCTGGGCAACACAGCAAGACTCCGTCCCTAC
|
ACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAGAAAAGAAAAGCACTATTATTACTAGTTAAGGTTGTTGGGAGGCACACACAGACAAGGGACACAGAGATATAACTTTCATTCTTCAACATTAAAACAATAATATAGATTCTGAGGCTGCCTTCATAATATGGTTGCACATTGATTCTTGTTTGAGAACTATTAATAAAATTTTAAATTCTTAGTGGTAATTGAAATTCAACTCAGCCCTTTAAAAAATGTGTTTTGGACCACAGTGCATCTAATGTGACCAGGAATATGAAAAATTCAAATATACAAAAATACAGAAAACATGAAGAGCAGCCATAGACAGATCCCTGAAATAGGGAATCATATATATCCACTTCATTACGAAAGACAGATGTGGCTATTATCAGGTATTAGGTAAACATTTAATGTTACGAGGAAAGGTTTCCTGGAGGAAGGAAGCAAGCAAAGAAAACAGACCAATTAATCTTTCAACAGATGAGGTTTCTTGCCATGTGTGATTTTTATTGTGCTTTTTAAAAAACATAGAGAATACTCAGATTTTTTCAACTAGAGTCTGACCTTCAATTCCACAACTTTCTCAGGACTTTTTTAATGCTGTAATAGTAGTAAGGAGTTAGTCGTCTAACGAATACAGTCTTCCTCAAACCTATTTATCCATCCCCTTTCTTTTGGATCCTAACCCAGTAGAGCAGTTCAGATGAGTGGGATAACAAAACTAAGTTACCCAGGAGATTTACATATAGGTTGAGACCTTGAAAAAGCATCAACTTTTAAAGCATTTCCCCATTAGGAAAAGAAGGCCTCACAAATGGCTAACAGAATATTTTTAAACAATTATGGCTTTTCCAGATTACTATGAAACCCAGTACTATCTGGAGAGAATGAAGCATACAGACATGGTAAAGTCTTTCTTTTTTTTTTTTTAAGTCTGGCAGTACTTTTACTAAAGTAGGAATCATGGAAAACAGGTATGGTTAGTTTAGGAAGTCATTATGGCATATAAATGTATATGTAGGAGTGGCGGTTCAATTGAAACATGATTCCTTACTTCCCATCTCCAAAACATTCTCTATGTGTTTACAGATTTGTTTCCCAGTTCTCAAACAGCAAGTTAGAATAAAGTTATTCAAATAGCTAAATCAAGACCCTTACATAGAAGAGAATCTGAGGAAGTGAAATGTGCTTATTCTAAATGCTATCTGACTAGTTTTCTTTCCCCAACTTCATCCTTTCCCTGGCTCAGAGTTTGTCTTTATGTCCTTATAGAAGTCTGCCAATCATAATTGAGAGTAAATAAAGAACACAGATAAGATAAAAATGTAGGACAAGCTGGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGATCAAGACCATCCCGGCTAACACGGTGAAACTCTGTCTCTACTAAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACACAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAATTAAAAAAAAATGTAGGACAAGCTTTAAGGGGGAACTCTCTCTTCACATTTTAACTTTTTAAAAAGCTACTTTCCATAGGGAAAGGTTTGTAAAAATGGGCAAATATCACTGTGGGTTTTTCATGTAAGAGTTCCATTCCTGAAGAACGGGAAGCTCAGAGATAAACTAACAACTTGCTCAAGGACATAGAGAATCTGAGATCCAGTTCTGTCAGGCGCCGAGGCCCAGGGTCTTCACTCTGTTACTATGCAATGACCACCTTTGAGCGCCTTATGCTCAATTTCTCAATTGTGTTTCTTTTAGGTCTGACCAGTACCTGGCTAAGCGCTCCTCTAAGAAATGGTATCGTTCTTCTCTGAGGCCTCCTCCAAAGAGTTCCCCAACTCCAGGAACCCGAAGATCAACAGCAGCAACCTAAGGAAAAAAAAAAAATTATTAGCATTATATTTTCAGGTGATTCCAACAGTCAGTTTCTGAAGCAAGTAAACCTTTAACATTTTGGCAATGGCTAATTAACTACCTACCAGAATCTTACTGACTACATACAAATTATAAGTGGACAATTTCCTCTCTCTTGCACCATTTGTGTAGTATACTGAACACAAATGTATTTTCTTCATAAATGTGATAGAAATGTTAATTATAAAAATGTGGATAGTGTTAAAAATTATGAAACATTAAAAATCACCTATCAGTACCAGAAAATTACATTTTTGTGGATTTCCTTTCAAATTTTTTCCCTTATACATTTATAAAGTATAATTACAGATAAAAACTTACCACTTGTCTTACCTAATATTACAAACTAATATTTTTCCTATATTAGTAAAAATACTTCACATTATGTTTTAATAGCTTTAATGTTTAATAGTTTATTGATTAGAATTATAATTATTTAACTGCTTTCCTTTTTAGTTGAACATTTAAGGTGTGTATATTTTTGTCTGTTTTTTCTTATAATGTGGCAATGAAGAGTTTAATTTGTAGTATTGTTATTAGGACATATAAAATAAATTCTGATTATTAATCAAAGAAGTATAAAATTAAAAAAACAAGATACCATTCTGGAGTTATCAAAATGGAGATGATGGCTGGGCACAGTAGCTCACACCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGCAGACTGCCTGAGCTCAGGAGTTCAAGACCACCTTGGGGGCAACATGGTACAACCCCCGTCTCTACTAAAATACAAAAAATTAACTGGGCTTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTAAACCCAGGAGGTGGAGGTCACAGCGAGCCAAGATTGCACCACTGCATTCTAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAACAAAACAAAAAAAAAAAAAAGGGTGATAAGAAAATAATATATCTGCAAGACTAAGTCTGAAAGAAAAAATATAGGAAAATAAAATAAAGAATACAGATTATAGAATGGATAAACCAATAAGCTCATATAACTGATACAACTTTTCTGGTCAGCAATTTGGCAACAGATAACCAAACGCCTGAAAAATGCAATATGTTTTGACTCAGCAAGCAGTTCAAGGAACCTATCCTAAGAAAATCAGAGATGCAAAAAAAGATTAACATGCAAGATGTTTATTACAGCATTACTTATGACAAAAAGTTCAAATGTACATCAACAGACTATTAGATAAGTTTTAGACATGGATAGAAAAAAGACTATCATCTACATAATGAGATGTTGTGTTGCTACTGTGATGAGATTACAAGTATTTTAAAATTGTTTTCCTCTTTTATTTGTATTTTCTTATTTTCTATACTAAACAGGTATTATAGTTTTATAATAGAAAACATCAAAAAACTCTTAGTAAGGGAAAATGATAGCTTAATATTTTAATTTGTATTTCTTCAATTACTAATTAGTATTACTAAATTAATTATATTTCTTCAATTATTAAATTAGTAATATTTAATTTTTCAGGCCGGGTGCGGTGGCTTACGCCTGTAATCCCAATACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTAGTGAAACCCCCTCTCTGCCAAAAATACAAAAATTAGCCAAGTGCAGTGGCGCATGCCTGTAGTCCCAGCTGTTCTGGAGGCTGAGGCACGAAGAATTGCTTGAACTTATGAGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGTACTCCAGCCTGGATGACAAAGCGAGATTTTGTCTGTCTCCCAAAAAACAATTAAAAAAATTTTTTTTAAATGTTTATTTGTGGCTGGGCACAGTGGCATGTGCTTGTAGTCTTGGCTACTTGGGAAGCTGAGGTGGGAGGACTGCTTGAGGCCAGGAATTTGAGACCAGCCTGGGCAACACAGCAAGACTCCGTCCCTAC
|
Task1_train_16373
|
With a mutation on Chromosome 11 in gene NARS2 (asparaginyl-tRNA synthetase 2, mitochondrial), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
|
Pathogenic; Combined oxidative phosphorylation defect type 24
|
TATGGTAAAATATAATTGTAGAACAAAGATTAATAAAGAATTAGGGGATGGGCTCAAGTGAAAGCTACTTAAGGAATGCCACTGACTCCTTCTGAAGCTCAGATCCTGAATCCCTACAGTCCAGAATATGGTTGTTCAACAGCAGCACTACTGATACTTTGGGCCAGCTAATTACCGGGGAGAAGGTGGCTGTGCACTTTAGGTTGTTGAACAGCACTTCTGCCTTTACCAACTACATGCTAGTAGTGACCACTCTCCCCCTTCCCTGCCCATTCCCTAATAGGGATAACCAAAAATGTCCCATGGGGACTGATCCAAAATGCTCAGCGGGAAGTGTAAAGGGAGCATGGAAGTGAAATGCTATATTGTGTGGCCGAATGCCCCTTCAGGGCCAAGTGCCCTATATGGGAATCCAGGAATATTACTAACTGCTGATGGTTTATAGTTGAGTGCTTCATCAGGAACTGTCGAGACCCAAAGGTACTGCCTTACTCAAGGTTATGCCCCTTCCAGTGGCTAATCACATCCAATGATTGGTTGATATGGGAAGGCACAAAGTGCTAACGCCTTGCTTTTAGATGGGACAACTGTTCCCATCTGGTTTAGGACCATTCCAGTTCCAAAGTTCTTCACAGAAGAAGCTAAGGCCTCTGTTTGTAAATGGATCACAGTTCACACTTCCCACTGTTCAATGTGACTTTCTTCCTTTCCTTATGAATACTGTTCTCAAGAGCACTCCCTAATAACGCCCCTGCCCACACATCTCTGCCTTAGAGAGTTTTGTTTACTAGGAAATCCAACTCAAGACAGGGTAATAAAATAATTAGTCTGTTCTATTTGTGATATATATGGTATTTATGTTTTAAGTGGAAATAGGTCATTTACTGGGTAAGAGTAGAAAGACATAGAAATGAACAGAAAGGAGAGTTGATGAAAATCACTAAAATAAACATCCCATAATTACAAATCCAAACTAAGATAGTAACCACAATGCTTCTGAATAGACAATTCATAATTTAACAGTTAACAATTCCTGGGTATTTACTAAGTGCCATAAATTATGCTAAGTACTTCATATATATATATATATATATACAGACACACACACACACACACACACATATATAGATTTTATCTACCTGATCTTCTCAAGTAGCCTATAAAGTAGGAATTTTTATTCCTATGTATTGGAATTTTGATGAAGACACTGAGGCCTAGAGACATTAAGTCCCTTGTCTAAGTTGGTCACATAGCATGTGAGTGGTTAAGCATCAAATCTTGGTCCATTCAATTCCACTTGTGTGCACTGTCTGGATTATGTCTACAGCCTCCTAACAAGGCCTCTCTACTTTTATCTACCTCTAAATCATTGTTCATATTGCTGCTAAAAAGATGTGCCTAAAATATAGCTCTGACCTTCATTTTCCAATTTAGAACTCTTGCTCCTTAAATTTTGGGTAAAGTTCAAACTCCTTACTATGGCACTGAAATACAAGGTCTTTCATGATCTGTTGCCTGACCATGACCATCTCTCCAGCCTTGTCCCCTGCTCAACTGAGCTGATAGCTCCTGTGGATGCTTTCTAATATAGCTACATAGGGGTTTATGTAAGTATTACAGACATTTATATAATTATAAAGATGTTTGGTATATTTTCCTAGCAAATCAGAGCTACTATTTAGTGAACCTGCTTGTGTTCCAGACCCCATGCTATATGCATTATATTATATATACAATTTCATTTACCCCTCACATAACCTTAGGAGTAAGCACAATTATTCTCATTTTAGAGTTGAGGAACCTAAAGATCATGAAAGTCAGGGAACTTCATAGCAAAGCTAATGGCAGAGCTGGGATATAAACTTAAATCTGTCTGACTCTTGTATTTTAAACTATTACAGTAAAGGCATTCAATAAGTGTTTATTAAGTAGTTACCCCTTCTTTTCACTTTATGAATACCTGTAACACATAAACGTCCGAGGTAAAAATATATACAGAAACATTTTAATGTCACAGATACCTGGTATTTTAAAACTTGTGTACCTACCTGCATAAGATCTTGAAGGCTGTCAACAAAAGAAATCTCTGCTTCTATCATATAAAACTCTGCCAGGTGCCTCCGGCTCTGAGAATTTTCAGCTCGGAAGGTCGGACCAAAGGTAAACACTTGAGTAAAAGCTCTGCAATTCAAGATTAAGAGAATGCAAATAGAATTCACATGATTAATTTTAAGTATTTAAATATTCAGTGAGCTCTTACGGAAAATAAAGTTTTGTGTGCCTCTGTCTTGTCCACAGACTGACACATATTTGCTGCTACATATTTCTCTAATAGGTGATAATAACAGTTTCATTAAAAATGTTACATTGAGGCTGGGCACAGTGGCTCAGGTCTGTAATCCTAGCACTTCCTGGGAGGACTGCTTAAACTTAGGAGTTCAAGACCAGCCTGGGAAACATGGTGAAAATTTATCTCTACAAAAAATCCTTTAAAATAGCTAGGTGTGATGGCCTGTGCCTATAGGTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCGTTTGAGTCCAGGAGGTGGAGGCCACAGTGAGCCATGTTCATGCCACTGCATTCTGGCCTGGGCGAGAGTGAGATCCTGTCTCAATAAATGAACAAACAAACAAAAAAAAAAAAGAAAAAAAAAAGTTACATTTATAGAAACCATTTTATCCTGAAGGAATCTGCAACTGCTTCACAAATCCTATGGTTTTACTAAATATAGAAACATAACCACTTCTGGGTGCACTCTACTGCAGCTGCCTTAAAACAGCAGGCAACTACATTTCACAGCAATCAAGAACAAAGTAAAGAAAAAAACACCGCAGCCCAAGAAACCCCACAGAAAATCTAGATAATAACAGTGAAAACTAGAATTTCATGTAGATAAGGTGTGTTCATTTATTTTTTAAACACAAGAAAAAAGAACGTCAGATACATATTGCAGTTCACCTTGTTCAAAGCCCACTCAAGTCCTTGACGACCACCTGTCTTTCAATCAATGGTGAATGACCCCTGAAATGTGGAGGTGAGAGATTTTGAGGAACTACTTTATTCCCTTGATTCCAGAGGACTATAGCTCAACCATCCAAATGGGGAGAAAAATCCCTTATTCTTAAACTCCTATAGTGAAGTGGACACTACATCCGTCATTCTTTAATACTTATTGTTTCCCTCACATTCAAACCAAGTAACAGCTGAGATTAGATCAAGCACATATGAAGTAATAAATATTTCTTGAGGACTTAATCTTTAAATGTTAAGGTTTTGTTAGAACAAAGCAAGCTGTTTGAGGCTCCTTAGCTATGATCCTTGATCCTGAGCACACCTAATCTGTCATTTAGCCAAATAATATTAAGATCAGAAAACTTAGTGTAGAAAATAGATGGATTTTGTATATATATAAGTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTAGTAAAGATACTCTGGGAAAGGAAACATAAAGTAACTATGGTGAAAACCAAGAGATTTACTTCTCTCTCAATTGCCATTTCAGTAAGACCCAATTGGTAGAAGCTTAGGAAGTTATATTTTGGTTCTACAGCTACCTTCCTAAGACCATGATCTGCTAACCTGAGAACCTTAGTTTTTATTGAAAAAATAAACAGTAGGAACTCAAAAATATTACTATGGTTGCCTTTCTTCCAAGATTCAGCTACAGACTTGCCTACTAGAATGTTTTGAAAAAGACTAAACCTACCTTATGCAGAATGAAAATTTTGACCCTGTTCCCCAAAACAAACAAAAGACAAAATGAACAATCCTGCCTTTCTTTTTACATTTCCTCCAGCTCTGTTAATCTCAGTTAATCCACCAACTCAACCAAGACAGATCCCACATTCCCCAGCTTATTACATGGCCCTTATCATTTTGATCACAAAATTTAGTTGTTTACACCTTGGAAAACTCTGAAATCTCGCAGCTTTTCTCTATCTCCACAGCTATTGTCAGTGTAAACCTTTGTCTACTGCTTAGAAAATAACAGCTTTTTAACTGGTGTCTGGCACCTGTCTTCCTCCAGTCCCAAACTATAGGTT
|
TATGGTAAAATATAATTGTAGAACAAAGATTAATAAAGAATTAGGGGATGGGCTCAAGTGAAAGCTACTTAAGGAATGCCACTGACTCCTTCTGAAGCTCAGATCCTGAATCCCTACAGTCCAGAATATGGTTGTTCAACAGCAGCACTACTGATACTTTGGGCCAGCTAATTACCGGGGAGAAGGTGGCTGTGCACTTTAGGTTGTTGAACAGCACTTCTGCCTTTACCAACTACATGCTAGTAGTGACCACTCTCCCCCTTCCCTGCCCATTCCCTAATAGGGATAACCAAAAATGTCCCATGGGGACTGATCCAAAATGCTCAGCGGGAAGTGTAAAGGGAGCATGGAAGTGAAATGCTATATTGTGTGGCCGAATGCCCCTTCAGGGCCAAGTGCCCTATATGGGAATCCAGGAATATTACTAACTGCTGATGGTTTATAGTTGAGTGCTTCATCAGGAACTGTCGAGACCCAAAGGTACTGCCTTACTCAAGGTTATGCCCCTTCCAGTGGCTAATCACATCCAATGATTGGTTGATATGGGAAGGCACAAAGTGCTAACGCCTTGCTTTTAGATGGGACAACTGTTCCCATCTGGTTTAGGACCATTCCAGTTCCAAAGTTCTTCACAGAAGAAGCTAAGGCCTCTGTTTGTAAATGGATCACAGTTCACACTTCCCACTGTTCAATGTGACTTTCTTCCTTTCCTTATGAATACTGTTCTCAAGAGCACTCCCTAATAACGCCCCTGCCCACACATCTCTGCCTTAGAGAGTTTTGTTTACTAGGAAATCCAACTCAAGACAGGGTAATAAAATAATTAGTCTGTTCTATTTGTGATATATATGGTATTTATGTTTTAAGTGGAAATAGGTCATTTACTGGGTAAGAGTAGAAAGACATAGAAATGAACAGAAAGGAGAGTTGATGAAAATCACTAAAATAAACATCCCATAATTACAAATCCAAACTAAGATAGTAACCACAATGCTTCTGAATAGACAATTCATAATTTAACAGTTAACAATTCCTGGGTATTTACTAAGTGCCATAAATTATGCTAAGTACTTCATATATATATATATATATATACAGACACACACACACACACACACACATATATAGATTTTATCTACCTGATCTTCTCAAGTAGCCTATAAAGTAGGAATTTTTATTCCTATGTATTGGAATTTTGATGAAGACACTGAGGCCTAGAGACATTAAGTCCCTTGTCTAAGTTGGTCACATAGCATGTGAGTGGTTAAGCATCAAATCTTGGTCCATTCAATTCCACTTGTGTGCACTGTCTGGATTATGTCTACAGCCTCCTAACAAGGCCTCTCTACTTTTATCTACCTCTAAATCATTGTTCATATTGCTGCTAAAAAGATGTGCCTAAAATATAGCTCTGACCTTCATTTTCCAATTTAGAACTCTTGCTCCTTAAATTTTGGGTAAAGTTCAAACTCCTTACTATGGCACTGAAATACAAGGTCTTTCATGATCTGTTGCCTGACCATGACCATCTCTCCAGCCTTGTCCCCTGCTCAACTGAGCTGATAGCTCCTGTGGATGCTTTCTAATATAGCTACATAGGGGTTTATGTAAGTATTACAGACATTTATATAATTATAAAGATGTTTGGTATATTTTCCTAGCAAATCAGAGCTACTATTTAGTGAACCTGCTTGTGTTCCAGACCCCATGCTATATGCATTATATTATATATACAATTTCATTTACCCCTCACATAACCTTAGGAGTAAGCACAATTATTCTCATTTTAGAGTTGAGGAACCTAAAGATCATGAAAGTCAGGGAACTTCATAGCAAAGCTAATGGCAGAGCTGGGATATAAACTTAAATCTGTCTGACTCTTGTATTTTAAACTATTACAGTAAAGGCATTCAATAAGTGTTTATTAAGTAGTTACCCCTTCTTTTCACTTTATGAATACCTGTAACACATAAACGTCCGAGGTAAAAATATATACAGAAACATTTTAATGTCACAGATACCTGGTATTTTAAAACTTGTGTACCTACGTGCATAAGATCTTGAAGGCTGTCAACAAAAGAAATCTCTGCTTCTATCATATAAAACTCTGCCAGGTGCCTCCGGCTCTGAGAATTTTCAGCTCGGAAGGTCGGACCAAAGGTAAACACTTGAGTAAAAGCTCTGCAATTCAAGATTAAGAGAATGCAAATAGAATTCACATGATTAATTTTAAGTATTTAAATATTCAGTGAGCTCTTACGGAAAATAAAGTTTTGTGTGCCTCTGTCTTGTCCACAGACTGACACATATTTGCTGCTACATATTTCTCTAATAGGTGATAATAACAGTTTCATTAAAAATGTTACATTGAGGCTGGGCACAGTGGCTCAGGTCTGTAATCCTAGCACTTCCTGGGAGGACTGCTTAAACTTAGGAGTTCAAGACCAGCCTGGGAAACATGGTGAAAATTTATCTCTACAAAAAATCCTTTAAAATAGCTAGGTGTGATGGCCTGTGCCTATAGGTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCGTTTGAGTCCAGGAGGTGGAGGCCACAGTGAGCCATGTTCATGCCACTGCATTCTGGCCTGGGCGAGAGTGAGATCCTGTCTCAATAAATGAACAAACAAACAAAAAAAAAAAAGAAAAAAAAAAGTTACATTTATAGAAACCATTTTATCCTGAAGGAATCTGCAACTGCTTCACAAATCCTATGGTTTTACTAAATATAGAAACATAACCACTTCTGGGTGCACTCTACTGCAGCTGCCTTAAAACAGCAGGCAACTACATTTCACAGCAATCAAGAACAAAGTAAAGAAAAAAACACCGCAGCCCAAGAAACCCCACAGAAAATCTAGATAATAACAGTGAAAACTAGAATTTCATGTAGATAAGGTGTGTTCATTTATTTTTTAAACACAAGAAAAAAGAACGTCAGATACATATTGCAGTTCACCTTGTTCAAAGCCCACTCAAGTCCTTGACGACCACCTGTCTTTCAATCAATGGTGAATGACCCCTGAAATGTGGAGGTGAGAGATTTTGAGGAACTACTTTATTCCCTTGATTCCAGAGGACTATAGCTCAACCATCCAAATGGGGAGAAAAATCCCTTATTCTTAAACTCCTATAGTGAAGTGGACACTACATCCGTCATTCTTTAATACTTATTGTTTCCCTCACATTCAAACCAAGTAACAGCTGAGATTAGATCAAGCACATATGAAGTAATAAATATTTCTTGAGGACTTAATCTTTAAATGTTAAGGTTTTGTTAGAACAAAGCAAGCTGTTTGAGGCTCCTTAGCTATGATCCTTGATCCTGAGCACACCTAATCTGTCATTTAGCCAAATAATATTAAGATCAGAAAACTTAGTGTAGAAAATAGATGGATTTTGTATATATATAAGTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTAGTAAAGATACTCTGGGAAAGGAAACATAAAGTAACTATGGTGAAAACCAAGAGATTTACTTCTCTCTCAATTGCCATTTCAGTAAGACCCAATTGGTAGAAGCTTAGGAAGTTATATTTTGGTTCTACAGCTACCTTCCTAAGACCATGATCTGCTAACCTGAGAACCTTAGTTTTTATTGAAAAAATAAACAGTAGGAACTCAAAAATATTACTATGGTTGCCTTTCTTCCAAGATTCAGCTACAGACTTGCCTACTAGAATGTTTTGAAAAAGACTAAACCTACCTTATGCAGAATGAAAATTTTGACCCTGTTCCCCAAAACAAACAAAAGACAAAATGAACAATCCTGCCTTTCTTTTTACATTTCCTCCAGCTCTGTTAATCTCAGTTAATCCACCAACTCAACCAAGACAGATCCCACATTCCCCAGCTTATTACATGGCCCTTATCATTTTGATCACAAAATTTAGTTGTTTACACCTTGGAAAACTCTGAAATCTCGCAGCTTTTCTCTATCTCCACAGCTATTGTCAGTGTAAACCTTTGTCTACTGCTTAGAAAATAACAGCTTTTTAACTGGTGTCTGGCACCTGTCTTCCTCCAGTCCCAAACTATAGGTT
|
Task1_train_16374
|
This variant affects gene NARS2 (asparaginyl-tRNA synthetase 2, mitochondrial) located on Chromosome 11. Evaluate its biological effect and specify any disease association.
|
Pathogenic; Combined oxidative phosphorylation defect type 24
|
ACAGTCCAGAATATGGTTGTTCAACAGCAGCACTACTGATACTTTGGGCCAGCTAATTACCGGGGAGAAGGTGGCTGTGCACTTTAGGTTGTTGAACAGCACTTCTGCCTTTACCAACTACATGCTAGTAGTGACCACTCTCCCCCTTCCCTGCCCATTCCCTAATAGGGATAACCAAAAATGTCCCATGGGGACTGATCCAAAATGCTCAGCGGGAAGTGTAAAGGGAGCATGGAAGTGAAATGCTATATTGTGTGGCCGAATGCCCCTTCAGGGCCAAGTGCCCTATATGGGAATCCAGGAATATTACTAACTGCTGATGGTTTATAGTTGAGTGCTTCATCAGGAACTGTCGAGACCCAAAGGTACTGCCTTACTCAAGGTTATGCCCCTTCCAGTGGCTAATCACATCCAATGATTGGTTGATATGGGAAGGCACAAAGTGCTAACGCCTTGCTTTTAGATGGGACAACTGTTCCCATCTGGTTTAGGACCATTCCAGTTCCAAAGTTCTTCACAGAAGAAGCTAAGGCCTCTGTTTGTAAATGGATCACAGTTCACACTTCCCACTGTTCAATGTGACTTTCTTCCTTTCCTTATGAATACTGTTCTCAAGAGCACTCCCTAATAACGCCCCTGCCCACACATCTCTGCCTTAGAGAGTTTTGTTTACTAGGAAATCCAACTCAAGACAGGGTAATAAAATAATTAGTCTGTTCTATTTGTGATATATATGGTATTTATGTTTTAAGTGGAAATAGGTCATTTACTGGGTAAGAGTAGAAAGACATAGAAATGAACAGAAAGGAGAGTTGATGAAAATCACTAAAATAAACATCCCATAATTACAAATCCAAACTAAGATAGTAACCACAATGCTTCTGAATAGACAATTCATAATTTAACAGTTAACAATTCCTGGGTATTTACTAAGTGCCATAAATTATGCTAAGTACTTCATATATATATATATATATATACAGACACACACACACACACACACACATATATAGATTTTATCTACCTGATCTTCTCAAGTAGCCTATAAAGTAGGAATTTTTATTCCTATGTATTGGAATTTTGATGAAGACACTGAGGCCTAGAGACATTAAGTCCCTTGTCTAAGTTGGTCACATAGCATGTGAGTGGTTAAGCATCAAATCTTGGTCCATTCAATTCCACTTGTGTGCACTGTCTGGATTATGTCTACAGCCTCCTAACAAGGCCTCTCTACTTTTATCTACCTCTAAATCATTGTTCATATTGCTGCTAAAAAGATGTGCCTAAAATATAGCTCTGACCTTCATTTTCCAATTTAGAACTCTTGCTCCTTAAATTTTGGGTAAAGTTCAAACTCCTTACTATGGCACTGAAATACAAGGTCTTTCATGATCTGTTGCCTGACCATGACCATCTCTCCAGCCTTGTCCCCTGCTCAACTGAGCTGATAGCTCCTGTGGATGCTTTCTAATATAGCTACATAGGGGTTTATGTAAGTATTACAGACATTTATATAATTATAAAGATGTTTGGTATATTTTCCTAGCAAATCAGAGCTACTATTTAGTGAACCTGCTTGTGTTCCAGACCCCATGCTATATGCATTATATTATATATACAATTTCATTTACCCCTCACATAACCTTAGGAGTAAGCACAATTATTCTCATTTTAGAGTTGAGGAACCTAAAGATCATGAAAGTCAGGGAACTTCATAGCAAAGCTAATGGCAGAGCTGGGATATAAACTTAAATCTGTCTGACTCTTGTATTTTAAACTATTACAGTAAAGGCATTCAATAAGTGTTTATTAAGTAGTTACCCCTTCTTTTCACTTTATGAATACCTGTAACACATAAACGTCCGAGGTAAAAATATATACAGAAACATTTTAATGTCACAGATACCTGGTATTTTAAAACTTGTGTACCTACCTGCATAAGATCTTGAAGGCTGTCAACAAAAGAAATCTCTGCTTCTATCATATAAAACTCTGCCAGGTGCCTCCGGCTCTGAGAATTTTCAGCTCGGAAGGTCGGACCAAAGGTAAACACTTGAGTAAAAGCTCTGCAATTCAAGATTAAGAGAATGCAAATAGAATTCACATGATTAATTTTAAGTATTTAAATATTCAGTGAGCTCTTACGGAAAATAAAGTTTTGTGTGCCTCTGTCTTGTCCACAGACTGACACATATTTGCTGCTACATATTTCTCTAATAGGTGATAATAACAGTTTCATTAAAAATGTTACATTGAGGCTGGGCACAGTGGCTCAGGTCTGTAATCCTAGCACTTCCTGGGAGGACTGCTTAAACTTAGGAGTTCAAGACCAGCCTGGGAAACATGGTGAAAATTTATCTCTACAAAAAATCCTTTAAAATAGCTAGGTGTGATGGCCTGTGCCTATAGGTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCGTTTGAGTCCAGGAGGTGGAGGCCACAGTGAGCCATGTTCATGCCACTGCATTCTGGCCTGGGCGAGAGTGAGATCCTGTCTCAATAAATGAACAAACAAACAAAAAAAAAAAAGAAAAAAAAAAGTTACATTTATAGAAACCATTTTATCCTGAAGGAATCTGCAACTGCTTCACAAATCCTATGGTTTTACTAAATATAGAAACATAACCACTTCTGGGTGCACTCTACTGCAGCTGCCTTAAAACAGCAGGCAACTACATTTCACAGCAATCAAGAACAAAGTAAAGAAAAAAACACCGCAGCCCAAGAAACCCCACAGAAAATCTAGATAATAACAGTGAAAACTAGAATTTCATGTAGATAAGGTGTGTTCATTTATTTTTTAAACACAAGAAAAAAGAACGTCAGATACATATTGCAGTTCACCTTGTTCAAAGCCCACTCAAGTCCTTGACGACCACCTGTCTTTCAATCAATGGTGAATGACCCCTGAAATGTGGAGGTGAGAGATTTTGAGGAACTACTTTATTCCCTTGATTCCAGAGGACTATAGCTCAACCATCCAAATGGGGAGAAAAATCCCTTATTCTTAAACTCCTATAGTGAAGTGGACACTACATCCGTCATTCTTTAATACTTATTGTTTCCCTCACATTCAAACCAAGTAACAGCTGAGATTAGATCAAGCACATATGAAGTAATAAATATTTCTTGAGGACTTAATCTTTAAATGTTAAGGTTTTGTTAGAACAAAGCAAGCTGTTTGAGGCTCCTTAGCTATGATCCTTGATCCTGAGCACACCTAATCTGTCATTTAGCCAAATAATATTAAGATCAGAAAACTTAGTGTAGAAAATAGATGGATTTTGTATATATATAAGTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTAGTAAAGATACTCTGGGAAAGGAAACATAAAGTAACTATGGTGAAAACCAAGAGATTTACTTCTCTCTCAATTGCCATTTCAGTAAGACCCAATTGGTAGAAGCTTAGGAAGTTATATTTTGGTTCTACAGCTACCTTCCTAAGACCATGATCTGCTAACCTGAGAACCTTAGTTTTTATTGAAAAAATAAACAGTAGGAACTCAAAAATATTACTATGGTTGCCTTTCTTCCAAGATTCAGCTACAGACTTGCCTACTAGAATGTTTTGAAAAAGACTAAACCTACCTTATGCAGAATGAAAATTTTGACCCTGTTCCCCAAAACAAACAAAAGACAAAATGAACAATCCTGCCTTTCTTTTTACATTTCCTCCAGCTCTGTTAATCTCAGTTAATCCACCAACTCAACCAAGACAGATCCCACATTCCCCAGCTTATTACATGGCCCTTATCATTTTGATCACAAAATTTAGTTGTTTACACCTTGGAAAACTCTGAAATCTCGCAGCTTTTCTCTATCTCCACAGCTATTGTCAGTGTAAACCTTTGTCTACTGCTTAGAAAATAACAGCTTTTTAACTGGTGTCTGGCACCTGTCTTCCTCCAGTCCCAAACTATAGGTTTCCAAACTCAAATCTGATTATGTCAGCCCTAATTTTAAAATCTTCAATGATTCCTTAGTACCAAAGAATAAAATTCTAACTCCTAATTTCAACTCAGTTCTTTCCCACACATCCT
|
ACAGTCCAGAATATGGTTGTTCAACAGCAGCACTACTGATACTTTGGGCCAGCTAATTACCGGGGAGAAGGTGGCTGTGCACTTTAGGTTGTTGAACAGCACTTCTGCCTTTACCAACTACATGCTAGTAGTGACCACTCTCCCCCTTCCCTGCCCATTCCCTAATAGGGATAACCAAAAATGTCCCATGGGGACTGATCCAAAATGCTCAGCGGGAAGTGTAAAGGGAGCATGGAAGTGAAATGCTATATTGTGTGGCCGAATGCCCCTTCAGGGCCAAGTGCCCTATATGGGAATCCAGGAATATTACTAACTGCTGATGGTTTATAGTTGAGTGCTTCATCAGGAACTGTCGAGACCCAAAGGTACTGCCTTACTCAAGGTTATGCCCCTTCCAGTGGCTAATCACATCCAATGATTGGTTGATATGGGAAGGCACAAAGTGCTAACGCCTTGCTTTTAGATGGGACAACTGTTCCCATCTGGTTTAGGACCATTCCAGTTCCAAAGTTCTTCACAGAAGAAGCTAAGGCCTCTGTTTGTAAATGGATCACAGTTCACACTTCCCACTGTTCAATGTGACTTTCTTCCTTTCCTTATGAATACTGTTCTCAAGAGCACTCCCTAATAACGCCCCTGCCCACACATCTCTGCCTTAGAGAGTTTTGTTTACTAGGAAATCCAACTCAAGACAGGGTAATAAAATAATTAGTCTGTTCTATTTGTGATATATATGGTATTTATGTTTTAAGTGGAAATAGGTCATTTACTGGGTAAGAGTAGAAAGACATAGAAATGAACAGAAAGGAGAGTTGATGAAAATCACTAAAATAAACATCCCATAATTACAAATCCAAACTAAGATAGTAACCACAATGCTTCTGAATAGACAATTCATAATTTAACAGTTAACAATTCCTGGGTATTTACTAAGTGCCATAAATTATGCTAAGTACTTCATATATATATATATATATATACAGACACACACACACACACACACACATATATAGATTTTATCTACCTGATCTTCTCAAGTAGCCTATAAAGTAGGAATTTTTATTCCTATGTATTGGAATTTTGATGAAGACACTGAGGCCTAGAGACATTAAGTCCCTTGTCTAAGTTGGTCACATAGCATGTGAGTGGTTAAGCATCAAATCTTGGTCCATTCAATTCCACTTGTGTGCACTGTCTGGATTATGTCTACAGCCTCCTAACAAGGCCTCTCTACTTTTATCTACCTCTAAATCATTGTTCATATTGCTGCTAAAAAGATGTGCCTAAAATATAGCTCTGACCTTCATTTTCCAATTTAGAACTCTTGCTCCTTAAATTTTGGGTAAAGTTCAAACTCCTTACTATGGCACTGAAATACAAGGTCTTTCATGATCTGTTGCCTGACCATGACCATCTCTCCAGCCTTGTCCCCTGCTCAACTGAGCTGATAGCTCCTGTGGATGCTTTCTAATATAGCTACATAGGGGTTTATGTAAGTATTACAGACATTTATATAATTATAAAGATGTTTGGTATATTTTCCTAGCAAATCAGAGCTACTATTTAGTGAACCTGCTTGTGTTCCAGACCCCATGCTATATGCATTATATTATATATACAATTTCATTTACCCCTCACATAACCTTAGGAGTAAGCACAATTATTCTCATTTTAGAGTTGAGGAACCTAAAGATCATGAAAGTCAGGGAACTTCATAGCAAAGCTAATGGCAGAGCTGGGATATAAACTTAAATCTGTCTGACTCTTGTATTTTAAACTATTACAGTAAAGGCATTCAATAAGTGTTTATTAAGTAGTTACCCCTTCTTTTCACTTTATGAATACCTGTAACACATAAACGTCCGAGGTAAAAATATATACAGAAACATTTTAATGTCACAGATACCTGGTATTTTAAAACTTGTGTACCTACCTGCATAAGATCTTGAAGGCTGTCAACAAAAGAAATCTCTGCTTCTATCATATAAAACTCTGCCAGGTGCCTCCGGCTCTGAGAATTTTCAGCTCGGAAGGTCGGACCAAAGGTACACACTTGAGTAAAAGCTCTGCAATTCAAGATTAAGAGAATGCAAATAGAATTCACATGATTAATTTTAAGTATTTAAATATTCAGTGAGCTCTTACGGAAAATAAAGTTTTGTGTGCCTCTGTCTTGTCCACAGACTGACACATATTTGCTGCTACATATTTCTCTAATAGGTGATAATAACAGTTTCATTAAAAATGTTACATTGAGGCTGGGCACAGTGGCTCAGGTCTGTAATCCTAGCACTTCCTGGGAGGACTGCTTAAACTTAGGAGTTCAAGACCAGCCTGGGAAACATGGTGAAAATTTATCTCTACAAAAAATCCTTTAAAATAGCTAGGTGTGATGGCCTGTGCCTATAGGTCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCGTTTGAGTCCAGGAGGTGGAGGCCACAGTGAGCCATGTTCATGCCACTGCATTCTGGCCTGGGCGAGAGTGAGATCCTGTCTCAATAAATGAACAAACAAACAAAAAAAAAAAAGAAAAAAAAAAGTTACATTTATAGAAACCATTTTATCCTGAAGGAATCTGCAACTGCTTCACAAATCCTATGGTTTTACTAAATATAGAAACATAACCACTTCTGGGTGCACTCTACTGCAGCTGCCTTAAAACAGCAGGCAACTACATTTCACAGCAATCAAGAACAAAGTAAAGAAAAAAACACCGCAGCCCAAGAAACCCCACAGAAAATCTAGATAATAACAGTGAAAACTAGAATTTCATGTAGATAAGGTGTGTTCATTTATTTTTTAAACACAAGAAAAAAGAACGTCAGATACATATTGCAGTTCACCTTGTTCAAAGCCCACTCAAGTCCTTGACGACCACCTGTCTTTCAATCAATGGTGAATGACCCCTGAAATGTGGAGGTGAGAGATTTTGAGGAACTACTTTATTCCCTTGATTCCAGAGGACTATAGCTCAACCATCCAAATGGGGAGAAAAATCCCTTATTCTTAAACTCCTATAGTGAAGTGGACACTACATCCGTCATTCTTTAATACTTATTGTTTCCCTCACATTCAAACCAAGTAACAGCTGAGATTAGATCAAGCACATATGAAGTAATAAATATTTCTTGAGGACTTAATCTTTAAATGTTAAGGTTTTGTTAGAACAAAGCAAGCTGTTTGAGGCTCCTTAGCTATGATCCTTGATCCTGAGCACACCTAATCTGTCATTTAGCCAAATAATATTAAGATCAGAAAACTTAGTGTAGAAAATAGATGGATTTTGTATATATATAAGTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTAGTAAAGATACTCTGGGAAAGGAAACATAAAGTAACTATGGTGAAAACCAAGAGATTTACTTCTCTCTCAATTGCCATTTCAGTAAGACCCAATTGGTAGAAGCTTAGGAAGTTATATTTTGGTTCTACAGCTACCTTCCTAAGACCATGATCTGCTAACCTGAGAACCTTAGTTTTTATTGAAAAAATAAACAGTAGGAACTCAAAAATATTACTATGGTTGCCTTTCTTCCAAGATTCAGCTACAGACTTGCCTACTAGAATGTTTTGAAAAAGACTAAACCTACCTTATGCAGAATGAAAATTTTGACCCTGTTCCCCAAAACAAACAAAAGACAAAATGAACAATCCTGCCTTTCTTTTTACATTTCCTCCAGCTCTGTTAATCTCAGTTAATCCACCAACTCAACCAAGACAGATCCCACATTCCCCAGCTTATTACATGGCCCTTATCATTTTGATCACAAAATTTAGTTGTTTACACCTTGGAAAACTCTGAAATCTCGCAGCTTTTCTCTATCTCCACAGCTATTGTCAGTGTAAACCTTTGTCTACTGCTTAGAAAATAACAGCTTTTTAACTGGTGTCTGGCACCTGTCTTCCTCCAGTCCCAAACTATAGGTTTCCAAACTCAAATCTGATTATGTCAGCCCTAATTTTAAAATCTTCAATGATTCCTTAGTACCAAAGAATAAAATTCTAACTCCTAATTTCAACTCAGTTCTTTCCCACACATCCT
|
Task1_train_16375
|
Gene NARS2 (asparaginyl-tRNA synthetase 2, mitochondrial) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign?
|
Pathogenic; Combined oxidative phosphorylation defect type 24
|
ATGAATACTAAAAGGCTGTTAAGAAAGGTTATCCAAACCTTGAATATAAGGCCAAAAGCTGTAGCCTTAAAAAGGTGATGTCCTTTCAAGGTATTACACAATGAGGGGACAAAGGCCCATTCGACGATTACTTAATTACTTAGGGAAAGGGAAATGTACTTGTTCCATTAGTCTATTTAATATTGAATTAAATAACCCGTATTAAGTGAAGTTACACGCTAATTTACAGATCTTTCCCAGCAGAGTTGCAAATAACTCTACCAGGTAGAAGAGATAATCCCAAAGTTTAGGGTGTGTTGGTCCTGTAGGACATTAACCAGTTTATAACTGACCTAGCACTCTTATTCCAACTATTAAAATGTCTATAAATACAGAGGTCTTCAGATGCTCTTTGAAACAGTTTTCTATTTTACTTGTTTCCTCTGTAATATAATCAACTGAATGAAAACTTTGATACAAATTCATTTTGTATTTGAATGAGTCATGTTTTTAATTTTTTTAAATTATAATTCCGTAGGCATAAGAACATTCCATGACAGGCTTGACACGGCCTTTCCTACATCCAGATCTGCAAATCCTATAATCTCACCATGTTATTATGACACTTTTTCTGCATAGTATTCTGCTAATATTGCCAGTCATTTGGTTATTGGAACTATCAAATAACATATTTTTGTTTCAAAGATAAATCAGAAAAGAACATGTTACTTTCAAGACCATCTTTATTCCACCACTGACTTTCCATTCTTCTAGCAAAGTACAAAAGTAAATATGCAAACTATTCTATTACATTTTCCTTGAGTTTTCTCATCTGTGCATTTTTAAAACAATGGAAAACACCAAAAGATTCCCTTCCTTTCAAGTGAGCTATTTCCAGAAAAGATTTTTTTAAGTCCTAATCTCTATAATGAGAAAATATTTAAAGAAAAAGATACATAAAGAAAACTCAGTACTTGATGAGTCTGCATTAACAAATTACCCCCAGAGGCCAGGCTCAGTGGCTCCTGCTTGTAATCCCAGTGCTTTGGGAGGCTGAGGCGGAAGAACCACTTGAGTCAAGAGTTTGAGACCAGCCTAGGACACATGGTGAGAACCCACCTCTACAAAAAATTTTAAAAATTAGCTAAGTGTGCTGGCACATGCCTTGAGTTCCAGTTACTTGGGAGGCCTAAGGCAGGAAGATCACTTGAGCCTAGAGTTTGAGATCAGCCTTGGTACATAGCAAGACCCCATCTCTACAAACAATTAGCCAGGTTTGGTGGTATATACCTGTAGTCCCAGCTACTCAGAAGGCTGAGGCAGGAGAATCACTTGAGCCCAGGAGTTTGTGAGCTATGACTGTGCAACTACACTCCAGCCTGGGCAATAAGCGAGATCCCACCTCTAAAAAAAATAAAAATAAATGGGAATTACCCACAGAATTACAGAATATAAGATTTAGACAGGATTTTAAAGGTCTTCTTTCTCAATCCCGTTTTAAAGAAAAGGTAGGCCCCAAGGAATACAGTGACTTTCCAGAGGTCTGACAGTTGCTAAAATTCATTTGATCTGACTTAAAAGATGTAATTTGCTGTACACCTCTCAAAATGTAGGTATGAGTTAATTTTATTTAAACCAATTACTGAAAAAAAAATTATTCCGTCTGTTTCAAATACTACTCTCTTTAAAATGAAATAGACTAATACCCGGTTCAGGTATAAACTATAAATTGCCTTTACTTCCATAAATATGATTAATTTAAATAAATTCTGATTACATGTTTGGGATTCAAGCAAGAAAAATTAGTAAAAAGAAAAAAATGACAACTTTGTATTTTCAGTGTTACATTTTTCACTAAAAACAAAAGTCTGTACTACAAGTAAGAAGCTTAAATATTTTGGAAAATTCAAGTGAACTAATGATAAAGACTAATTTCAACTTTTAGGTTTGAGCATGGGAAGGGAAGCACTCTCAACCAAACCATAATATATCAAAGCAAAAGAGAAAGGAAAATTTCATACCCTGACATCACTTCTAGATGAAGTTGTCCTGAGACAGTTAAGAAAGCAGGAACATTGAAGAAATTCTCCTCAGGTACCTTAAGTTTGCCTGAAGGCTGCAAATCAAAAACATAAGCCACAAAAAACTATTAAATGTTTTGCTTTGCATTTCACATTCATATACATGTCACAACTAAAAATCACAATGCAATTAAATCTATGTGAAGGCAGGTTGTTCTCAGGAAAATAAAGGTAGTTACACATCTAAGACAAAACGCCAGCTTGGAAAGTGCTAATAAAGGCAAGGAAGTTTGTTCCATATTTTCAAAACATACAATAACCAAAGGACCAAAGTACCTTTGTCACAAAATATACTTCCCCCTAAAAAGTGATTCTGATTAAGAGGCAATCTAAGGCAAGAAATTATGAATTAATTTTTAATGTGAAGAATTACATAACCTCAAAAGGTTGACTTATGATTGAGACTTAATTATCTCAAGAGAATAGCCTCTGGAACATGCGAGGTCATATTTATTATTAAAATATTAATAGTAATGCTTTTAACACAGATTTTTATAAACACATTATGAACTTTCAAAAACAGTATTTCATTTAATTGTCACCATAACTAGGTAGCAGGAAAAGCATGACTCTATCTTTAAAAGATACACTGAGCAACAAAACCTTTATGAACTTACAATATAGAAAGGGTGATTATTCCATCTGAAATGAGTAGGAAACAAGCCATTCAACATTTGTTAAGAGTTAAGCTAAAACAAACTACCTGGAGGCTAAACACAAACAGTATAATAAAGAAAGCTTCTGAATCAAGTTATGAGTATCATATCCTTTTCTGGGGAAGAAAGTTACACTTGTTTTTGTTGATTTAAACACAGGGTCTCATTATGTTGCCCAGGCTGGTCTTGATCTTCTGGGATCAAGAAATCCTCCCACTTCAGCCTCCCAAAGTGCTGGGATTTATAGGCATGAGTCCCTGAGCCCAGCTTCTTGTATTTTAAACTGTGCACTTATTTGAAAATGTTTTAGTGTAAAGGTGTAGTCACTGTAAAAGCAATATAGCCAATTTAAAATATGTAATGGAGAATGTAAGACTCTTTTAACAGGCTTAGTACCAAATATTAAATTATGGCAACACAGGAAATAAAGTTATTTAATTTCATTGGTTGTTCTAAAAATACTGCATATCATGTATCGGTATCTGTGGATAAATAAAAAATGTACTGTAAAAATTATCAGTTGAATCTTTTATTTTTATAATAACTGCCTTTTTTTTTCAAACTTACTTTGATACTAGTCAGAGATCGATGAATGCCTTTTTTATGAAAAAGTCCATCTTTAAATCTCATTATCAATGAAAGGGTATTGCTTCCAAAGATATTTAGTACTCAAGACTAAATACTTGATCTGATATATGTTAAGATTTTAAAATAAAAGATCTGTTCTCTGATATTTCTTCATTATTTACTAAAGAATTGCTTTCCGAAATGAGGTCCAACAAATTTATAAGACTACCATACTTTCTCCTTTCCTTCACCACTTTAGTCTATAATTTGTACTAATTTAACTTCACTTCAGATGGTTTCTCTCATTTCTTGTATTTATATAAAAAAAAAGTCTGGTCTTAATAATAAGATTTATTTATTTATTTTTGAGACAGAGTCTCACACTGTCGCCCAGGCTGAAGTGCAGTGGCGCGATCTTGACTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTGCCAGTAGCTGGGATTACAGGCATTGGCCAACATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCCTGACCTCAAGTGATCTGCCGGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCGTGCCCGGCCTATGACTAGATTTTAGATTTTCATTTATCAGCACTTGTACAGAATGATTTCTGATTTTTCTTACATTTCTTTAATTCAACTTATTTAAAACATACCACTACTTCATTATGCTTTCCAATGTCATGTTAGCGTTTACGTAACAAACTGATACTACCTTACTATAAATTACTT
|
ATGAATACTAAAAGGCTGTTAAGAAAGGTTATCCAAACCTTGAATATAAGGCCAAAAGCTGTAGCCTTAAAAAGGTGATGTCCTTTCAAGGTATTACACAATGAGGGGACAAAGGCCCATTCGACGATTACTTAATTACTTAGGGAAAGGGAAATGTACTTGTTCCATTAGTCTATTTAATATTGAATTAAATAACCCGTATTAAGTGAAGTTACACGCTAATTTACAGATCTTTCCCAGCAGAGTTGCAAATAACTCTACCAGGTAGAAGAGATAATCCCAAAGTTTAGGGTGTGTTGGTCCTGTAGGACATTAACCAGTTTATAACTGACCTAGCACTCTTATTCCAACTATTAAAATGTCTATAAATACAGAGGTCTTCAGATGCTCTTTGAAACAGTTTTCTATTTTACTTGTTTCCTCTGTAATATAATCAACTGAATGAAAACTTTGATACAAATTCATTTTGTATTTGAATGAGTCATGTTTTTAATTTTTTTAAATTATAATTCCGTAGGCATAAGAACATTCCATGACAGGCTTGACACGGCCTTTCCTACATCCAGATCTGCAAATCCTATAATCTCACCATGTTATTATGACACTTTTTCTGCATAGTATTCTGCTAATATTGCCAGTCATTTGGTTATTGGAACTATCAAATAACATATTTTTGTTTCAAAGATAAATCAGAAAAGAACATGTTACTTTCAAGACCATCTTTATTCCACCACTGACTTTCCATTCTTCTAGCAAAGTACAAAAGTAAATATGCAAACTATTCTATTACATTTTCCTTGAGTTTTCTCATCTGTGCATTTTTAAAACAATGGAAAACACCAAAAGATTCCCTTCCTTTCAAGTGAGCTATTTCCAGAAAAGATTTTTTTAAGTCCTAATCTCTATAATGAGAAAATATTTAAAGAAAAAGATACATAAAGAAAACTCAGTACTTGATGAGTCTGCATTAACAAATTACCCCCAGAGGCCAGGCTCAGTGGCTCCTGCTTGTAATCCCAGTGCTTTGGGAGGCTGAGGCGGAAGAACCACTTGAGTCAAGAGTTTGAGACCAGCCTAGGACACATGGTGAGAACCCACCTCTACAAAAAATTTTAAAAATTAGCTAAGTGTGCTGGCACATGCCTTGAGTTCCAGTTACTTGGGAGGCCTAAGGCAGGAAGATCACTTGAGCCTAGAGTTTGAGATCAGCCTTGGTACATAGCAAGACCCCATCTCTACAAACAATTAGCCAGGTTTGGTGGTATATACCTGTAGTCCCAGCTACTCAGAAGGCTGAGGCAGGAGAATCACTTGAGCCCAGGAGTTTGTGAGCTATGACTGTGCAACTACACTCCAGCCTGGGCAATAAGCGAGATCCCACCTCTAAAAAAAATAAAAATAAATGGGAATTACCCACAGAATTACAGAATATAAGATTTAGACAGGATTTTAAAGGTCTTCTTTCTCAATCCCGTTTTAAAGAAAAGGTAGGCCCCAAGGAATACAGTGACTTTCCAGAGGTCTGACAGTTGCTAAAATTCATTTGATCTGACTTAAAAGATGTAATTTGCTGTACACCTCTCAAAATGTAGGTATGAGTTAATTTTATTTAAACCAATTACTGAAAAAAAAATTATTCCGTCTGTTTCAAATACTACTCTCTTTAAAATGAAATAGACTAATACCCGGTTCAGGTATAAACTATAAATTGCCTTTACTTCCATAAATATGATTAATTTAAATAAATTCTGATTACATGTTTGGGATTCAAGCAAGAAAAATTAGTAAAAAGAAAAAAATGACAACTTTGTATTTTCAGTGTTACATTTTTCACTAAAAACAAAAGTCTGTACTACAAGTAAGAAGCTTAAATATTTTGGAAAATTCAAGTGAACTAATGATAAAGACTAATTTCAACTTTTAGGTTTGAGCATGGGAAGGGAAGCACTCTCAACCAAACCATAATATATCAAAGCAAAAGAGAAAGGAAAATTTCATACCCTGACATCACTTCTAGATGAAGTTGTCCTGAGACAGTTAAGAAAGCAAGAACATTGAAGAAATTCTCCTCAGGTACCTTAAGTTTGCCTGAAGGCTGCAAATCAAAAACATAAGCCACAAAAAACTATTAAATGTTTTGCTTTGCATTTCACATTCATATACATGTCACAACTAAAAATCACAATGCAATTAAATCTATGTGAAGGCAGGTTGTTCTCAGGAAAATAAAGGTAGTTACACATCTAAGACAAAACGCCAGCTTGGAAAGTGCTAATAAAGGCAAGGAAGTTTGTTCCATATTTTCAAAACATACAATAACCAAAGGACCAAAGTACCTTTGTCACAAAATATACTTCCCCCTAAAAAGTGATTCTGATTAAGAGGCAATCTAAGGCAAGAAATTATGAATTAATTTTTAATGTGAAGAATTACATAACCTCAAAAGGTTGACTTATGATTGAGACTTAATTATCTCAAGAGAATAGCCTCTGGAACATGCGAGGTCATATTTATTATTAAAATATTAATAGTAATGCTTTTAACACAGATTTTTATAAACACATTATGAACTTTCAAAAACAGTATTTCATTTAATTGTCACCATAACTAGGTAGCAGGAAAAGCATGACTCTATCTTTAAAAGATACACTGAGCAACAAAACCTTTATGAACTTACAATATAGAAAGGGTGATTATTCCATCTGAAATGAGTAGGAAACAAGCCATTCAACATTTGTTAAGAGTTAAGCTAAAACAAACTACCTGGAGGCTAAACACAAACAGTATAATAAAGAAAGCTTCTGAATCAAGTTATGAGTATCATATCCTTTTCTGGGGAAGAAAGTTACACTTGTTTTTGTTGATTTAAACACAGGGTCTCATTATGTTGCCCAGGCTGGTCTTGATCTTCTGGGATCAAGAAATCCTCCCACTTCAGCCTCCCAAAGTGCTGGGATTTATAGGCATGAGTCCCTGAGCCCAGCTTCTTGTATTTTAAACTGTGCACTTATTTGAAAATGTTTTAGTGTAAAGGTGTAGTCACTGTAAAAGCAATATAGCCAATTTAAAATATGTAATGGAGAATGTAAGACTCTTTTAACAGGCTTAGTACCAAATATTAAATTATGGCAACACAGGAAATAAAGTTATTTAATTTCATTGGTTGTTCTAAAAATACTGCATATCATGTATCGGTATCTGTGGATAAATAAAAAATGTACTGTAAAAATTATCAGTTGAATCTTTTATTTTTATAATAACTGCCTTTTTTTTTCAAACTTACTTTGATACTAGTCAGAGATCGATGAATGCCTTTTTTATGAAAAAGTCCATCTTTAAATCTCATTATCAATGAAAGGGTATTGCTTCCAAAGATATTTAGTACTCAAGACTAAATACTTGATCTGATATATGTTAAGATTTTAAAATAAAAGATCTGTTCTCTGATATTTCTTCATTATTTACTAAAGAATTGCTTTCCGAAATGAGGTCCAACAAATTTATAAGACTACCATACTTTCTCCTTTCCTTCACCACTTTAGTCTATAATTTGTACTAATTTAACTTCACTTCAGATGGTTTCTCTCATTTCTTGTATTTATATAAAAAAAAAGTCTGGTCTTAATAATAAGATTTATTTATTTATTTTTGAGACAGAGTCTCACACTGTCGCCCAGGCTGAAGTGCAGTGGCGCGATCTTGACTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTGCCAGTAGCTGGGATTACAGGCATTGGCCAACATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCCTGACCTCAAGTGATCTGCCGGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCGTGCCCGGCCTATGACTAGATTTTAGATTTTCATTTATCAGCACTTGTACAGAATGATTTCTGATTTTTCTTACATTTCTTTAATTCAACTTATTTAAAACATACCACTACTTCATTATGCTTTCCAATGTCATGTTAGCGTTTACGTAACAAACTGATACTACCTTACTATAAATTACTT
|
Task1_train_16376
|
The following genetic variant occurs in NARS2 (asparaginyl-tRNA synthetase 2, mitochondrial) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition.
|
Pathogenic; Combined oxidative phosphorylation defect type 24
|
CAGCTGAAACCTGAGCTAGATCCTGACTGTAGGAGCCTAGGATCAATGAATTCAAGAGTTTCTCTTTCTGATATTCTGCATGGGCAAATTCAATCCCACAAATTCCTTTCCCTGGCTCTGAAATAATATGAACATAGTACACTTCTCATTTGTTTAGCTTCAGAAATACATTTTTTTCCTCTTCCTATTTATTCACACTTATCTGATAATTTGTCTTAGGTTATTTAGAGGTCAAGATATATATATAAAATATGTATATATATCATATATATCTTATATTATATATATATATCTCTCTTATATTTTATATATATACAATCACTCAGAGCTGCTTATGGGATTTCCCTGGTAGCAATGCAGTTATCTCCAAATGTATCTTTATTTATGCACATTAAAAACTTTTTTACTTGTTTCATTTGGGTCTCTTTAACAATTCCTTTTTATTTGTAAAGACTCCTTTAAATTATACCTTTTTTTCCCAGCCATTTATTGAATATTCAGTGGTTTAGACTAAGGGATTTAGAAATGTATTTACAGTAATTCTTGGCTTCACTATGCAGAAAATTAAAGTGCAAAGAGAAAATAAACACCTAGAAGAGAATGTTTTCCAGAATTTACATATGGTTATTTTGTCACCTGCTGCCTTCTTTGAACTCATATACACAGATGCTAATACCCCCACTCTAAATGTTCAACAAGGCATTTTTATTCTGCTTTTTTGCAGAATGCTGATCAACGTCAAGAATTCTTCCAGTCATGTATAATGAAGACGGCATTTGATTATCATTCTGAATGACTTCAACCTATCAGGACAACTTCTCCCAGAGACTACTTTGTTCAATAATATAAAGCACCACCACCATTATTAAGAGTCAAAAAGCACTGAACCGGAGAAAGCAGTTACATACAAATTTTGTCATTTGATAGAATCAACCAAATATATAAACAAGAATCCTGACATCTTAAAGATAAAGAAATCAGTAAACAAATAAAAGAAGTACCAAAGTACCACTCATGATCATACCATTCTCTCTGTCCATTATTATACAACCGGCTAATGATTTTAAATAGCTATCAAACTGGTAAATGCAAGGCTTTCGACTGCCTCCAATAAGAAAAACTGATAACTTAAAAAATATCTGCAGTAAGGGCAGGCTGACAATGCCTGGCATATACTAGGAACTCAAAAAATGATTGCTAGACAAATTTAAGAGCCTTCATGGGATGAACAAAATATAAATCAGTTCTTATGAAAAAATGTATTTTTTAAAGACTTTGAAAAAGAAAATGATATTCACATGTATACTCTTCTATTTTTATTTATATTTTAAAATATGACTTACGTCCACAAATATTAACTGTGGATTGAATCTGCGTAAGAGAGAGCTTAAAATCCTCATTTGCCTCTTCAAATCTCTCTAGTTCAGCAATTCACAGTAACTTAAGAAAAGTAAATAGAGTGCTAAATTAAAAATTCACTCTTGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTCTGGTAGGCCAAGGCAGGTGGATTACAAGGTCAAGAGATCGAAACCATCCTGGCTAACCAAGAGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCCTGGTGGCAGGCACCTGTAGTACCAGCTACTCGGGAGGCCGAGGCAGGAGAATCGCTTGAACCCTAGAGGCGGAGGTTGCAGTGAGTCGAGATCACACCACTGCACTCCAGCCTGGCCACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAATTCATTCTTACCTGTCACAGCATAAGACTGCTGGTACTACAGGAAATGAGACTGGTTTGAATTGTCTATGTAAGTTTTTCAAGGATTTTTATTGACAATTTCAGGTGCTGCTCATAGTCTTCTGTCCACAAAACTATTATTAAATTTCAAACCCTCAAATGAAAAATATTAAACAGCAATGTACCCCTCAAGATGGGAAGCAAAACTTACTTCAAGTTGAAAAAGTTCTCCAGCTCCCTCAGAGTCATTGGATGTGATTATTGGAGTATGAATATGTACAAAGCCACTGTCCTGAAAAAGAAAACCACTGTTTTCAGGATATTTGCACATTCAACAATTCCAAGAACACACATCCTCTTATAGTATTAAAATGGCACACTAAGCAGATGCTGTATCAAATCCCTCCCTAATCCCCTAAATATTAAGACTACTGAAAATCAGTTGAGTGTTTTAACTACCCACAGGGGCACAAATAATTTTAATTCAGGAACACACTTAGACATTAACTAGTCCAACATCTTCATTTCAAAGATAAGGAAGTTAAGGCCCAGACAGATTTAGTGACTTTCCACAAGTTACACAATTAGTCAGTGGCTGAGCCAGGACTAGAACCTAGGTCTTCATGCTCTCTCTTTAGTACTATATTCTCTTCCCATTTCTCTAACATTTTGGTGGTGATTTAACAAACACATACGCACACTATAGGCTAATGCATAATGATGCTGCCCACGTTGCTAGAGGAATACAAAGCGATCAGTATAAACTTATCTTGAAATATGACCTCAATTGTAATGAACCACCAAAAAAGGAGAAAAAGTAGACAAATAGAGACTGAATAAACAAACAGCAAAAAAAGGCAGAAATGATCTTTAGGAGGTCTCTGTCATTAAACTGATGGCACAATGGACTCCACATGGCACAGGCAGTGTACTTCCTTTGCCTGAAGGAATATTCTGAGCAGCAGCAAATCCATCCATTACCGAGGTCCCCAAATGGAGCTCTTCCGAACAAAAGTCTGAGACTATTTCCATTAGTGAACCACAAAAGCTGTTGCTAGTCAGCAACTTCAAGGTTATGCTTCTTTCATTTTGACTATGGATGTAAGCAAAAGGTTACACACAATGTAGATGTTTGCAGGGTGGGACTGCAGGTAACGAAAAGTGAATTTATAATAGAAATGTAGGATAGTACATGCTTAATGCAAAATTTTGGTCTTGGAATCAATACAATAAATTCTTAAATACATATCTCTGCCAAGTTTGGTGGAGTGTAGATTGTCTCTATGCATTACTAGGGACCTCCCGAATATGATCCTTCTCAAATTCAAGTATTCTGGCTATAATACAAAGTATTCAGTCAACAACTTGCCTTATGATGTGGACTGATTAAATATTCAAGCTCTAAATTAGCAGTCTCAGAAAGTATTAAAATGTACACTTAATCTGACAGCAACATGCCCAGAGGTGCTGCACAGAGCACATTATAGAAAACCAATAAAATCTGATCAATAACATTACTGCATAAAATTTTTATCTCCTAGGAGCCAAGAATCATGGACATGAAACATTTCTTCCACATGAACGTAGGCAACTATGAACATGAGTGCAGTAAACAAAGAAAGGAAGTGAAAAATCCAAAGGAAACGAGGGTGGGGAAGGGGAGGTGGAGAGGGAGGAGAAAATTTAACGGCTAAACATGATTGCCCAAGTTAGAACTGGTCAAATGCCACAAGAAACAGCACTGTAAATCTTAGGAAAATAACTGAGATTTTTTTTTAAATCACACACCTAGTGGGAATTATTTTTAATACTTAACTAATGCTAAACATTACAAAAGGGCCCAGCAGCTTTCGCTGCTTTAAAACTGCTAGCAAGGCTTATCAAAGTTCCTAACGTTACCAAATGCTAATAAAGGAGAGAGTACAAAGGAAGAATAATACAGCCGTGCAAACAAAGTCCAAAAAAGTGAAAGCGGGTGGGGGAGTAAAAAGAATAAAAGGAAAGTAAATAGCAAGGAGTGGTTAAGTATTGTCAGTATGTGCCTCAAATAGGTTTCCAGTGTCACTTATTTATACTGTCCCGCAGCAAAGGGGCTCCTAAGTAGAAACATGAAGGCCAGAAAAGAGGCCAAAAATAAAAGCAACCACTTTCACCCAATTTTTCAGATTCCACCCATCACCTCCAAGTATTTAAATATTTTAATACACATTCTAAAACCAGATATTTTATAAGGCTCTGAGTATCCCAAAATTATAAAGTTCATACATTACGGCCCATACACATCAGTAAGAGAAGACTAATAGATTAT
|
CAGCTGAAACCTGAGCTAGATCCTGACTGTAGGAGCCTAGGATCAATGAATTCAAGAGTTTCTCTTTCTGATATTCTGCATGGGCAAATTCAATCCCACAAATTCCTTTCCCTGGCTCTGAAATAATATGAACATAGTACACTTCTCATTTGTTTAGCTTCAGAAATACATTTTTTTCCTCTTCCTATTTATTCACACTTATCTGATAATTTGTCTTAGGTTATTTAGAGGTCAAGATATATATATAAAATATGTATATATATCATATATATCTTATATTATATATATATATCTCTCTTATATTTTATATATATACAATCACTCAGAGCTGCTTATGGGATTTCCCTGGTAGCAATGCAGTTATCTCCAAATGTATCTTTATTTATGCACATTAAAAACTTTTTTACTTGTTTCATTTGGGTCTCTTTAACAATTCCTTTTTATTTGTAAAGACTCCTTTAAATTATACCTTTTTTTCCCAGCCATTTATTGAATATTCAGTGGTTTAGACTAAGGGATTTAGAAATGTATTTACAGTAATTCTTGGCTTCACTATGCAGAAAATTAAAGTGCAAAGAGAAAATAAACACCTAGAAGAGAATGTTTTCCAGAATTTACATATGGTTATTTTGTCACCTGCTGCCTTCTTTGAACTCATATACACAGATGCTAATACCCCCACTCTAAATGTTCAACAAGGCATTTTTATTCTGCTTTTTTGCAGAATGCTGATCAACGTCAAGAATTCTTCCAGTCATGTATAATGAAGACGGCATTTGATTATCATTCTGAATGACTTCAACCTATCAGGACAACTTCTCCCAGAGACTACTTTGTTCAATAATATAAAGCACCACCACCATTATTAAGAGTCAAAAAGCACTGAACCGGAGAAAGCAGTTACATACAAATTTTGTCATTTGATAGAATCAACCAAATATATAAACAAGAATCCTGACATCTTAAAGATAAAGAAATCAGTAAACAAATAAAAGAAGTACCAAAGTACCACTCATGATCATACCATTCTCTCTGTCCATTATTATACAACCGGCTAATGATTTTAAATAGCTATCAAACTGGTAAATGCAAGGCTTTCGACTGCCTCCAATAAGAAAAACTGATAACTTAAAAAATATCTGCAGTAAGGGCAGGCTGACAATGCCTGGCATATACTAGGAACTCAAAAAATGATTGCTAGACAAATTTAAGAGCCTTCATGGGATGAACAAAATATAAATCAGTTCTTATGAAAAAATGTATTTTTTAAAGACTTTGAAAAAGAAAATGATATTCACATGTATACTCTTCTATTTTTATTTATATTTTAAAATATGACTTACGTCCACAAATATTAACTGTGGATTGAATCTGCGTAAGAGAGAGCTTAAAATCCTCATTTGCCTCTTCAAATCTCTCTAGTTCAGCAATTCACAGTAACTTAAGAAAAGTAAATAGAGTGCTAAATTAAAAATTCACTCTTGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTCTGGTAGGCCAAGGCAGGTGGATTACAAGGTCAAGAGATCGAAACCATCCTGGCTAACCAAGAGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCCTGGTGGCAGGCACCTGTAGTACCAGCTACTCGGGAGGCCGAGGCAGGAGAATCGCTTGAACCCTAGAGGCGGAGGTTGCAGTGAGTCGAGATCACACCACTGCACTCCAGCCTGGCCACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAATTCATTCTTACCTGTCACAGCATAAGACTGCTGGTACTACAGGAAATGAGACTGGTTTGAATTGTCTATGTAAGTTTTTCAAGGATTTTTATTGACAATTTCAGGTGCTGCTCATAGTCTTCTGTCCACAAAACTATTATTAAATTTCAAACCCTCAAATGAAAAATATTAAACAGCAATGTACCCCTCAAGATGGGAAGCAAAACTTACTTCAAGTTGAAAAAGTTCTCCAGCTCCCTCAGAGTCATTGGATGTGATTTTTGGAGTATGAATATGTACAAAGCCACTGTCCTGAAAAAGAAAACCACTGTTTTCAGGATATTTGCACATTCAACAATTCCAAGAACACACATCCTCTTATAGTATTAAAATGGCACACTAAGCAGATGCTGTATCAAATCCCTCCCTAATCCCCTAAATATTAAGACTACTGAAAATCAGTTGAGTGTTTTAACTACCCACAGGGGCACAAATAATTTTAATTCAGGAACACACTTAGACATTAACTAGTCCAACATCTTCATTTCAAAGATAAGGAAGTTAAGGCCCAGACAGATTTAGTGACTTTCCACAAGTTACACAATTAGTCAGTGGCTGAGCCAGGACTAGAACCTAGGTCTTCATGCTCTCTCTTTAGTACTATATTCTCTTCCCATTTCTCTAACATTTTGGTGGTGATTTAACAAACACATACGCACACTATAGGCTAATGCATAATGATGCTGCCCACGTTGCTAGAGGAATACAAAGCGATCAGTATAAACTTATCTTGAAATATGACCTCAATTGTAATGAACCACCAAAAAAGGAGAAAAAGTAGACAAATAGAGACTGAATAAACAAACAGCAAAAAAAGGCAGAAATGATCTTTAGGAGGTCTCTGTCATTAAACTGATGGCACAATGGACTCCACATGGCACAGGCAGTGTACTTCCTTTGCCTGAAGGAATATTCTGAGCAGCAGCAAATCCATCCATTACCGAGGTCCCCAAATGGAGCTCTTCCGAACAAAAGTCTGAGACTATTTCCATTAGTGAACCACAAAAGCTGTTGCTAGTCAGCAACTTCAAGGTTATGCTTCTTTCATTTTGACTATGGATGTAAGCAAAAGGTTACACACAATGTAGATGTTTGCAGGGTGGGACTGCAGGTAACGAAAAGTGAATTTATAATAGAAATGTAGGATAGTACATGCTTAATGCAAAATTTTGGTCTTGGAATCAATACAATAAATTCTTAAATACATATCTCTGCCAAGTTTGGTGGAGTGTAGATTGTCTCTATGCATTACTAGGGACCTCCCGAATATGATCCTTCTCAAATTCAAGTATTCTGGCTATAATACAAAGTATTCAGTCAACAACTTGCCTTATGATGTGGACTGATTAAATATTCAAGCTCTAAATTAGCAGTCTCAGAAAGTATTAAAATGTACACTTAATCTGACAGCAACATGCCCAGAGGTGCTGCACAGAGCACATTATAGAAAACCAATAAAATCTGATCAATAACATTACTGCATAAAATTTTTATCTCCTAGGAGCCAAGAATCATGGACATGAAACATTTCTTCCACATGAACGTAGGCAACTATGAACATGAGTGCAGTAAACAAAGAAAGGAAGTGAAAAATCCAAAGGAAACGAGGGTGGGGAAGGGGAGGTGGAGAGGGAGGAGAAAATTTAACGGCTAAACATGATTGCCCAAGTTAGAACTGGTCAAATGCCACAAGAAACAGCACTGTAAATCTTAGGAAAATAACTGAGATTTTTTTTTAAATCACACACCTAGTGGGAATTATTTTTAATACTTAACTAATGCTAAACATTACAAAAGGGCCCAGCAGCTTTCGCTGCTTTAAAACTGCTAGCAAGGCTTATCAAAGTTCCTAACGTTACCAAATGCTAATAAAGGAGAGAGTACAAAGGAAGAATAATACAGCCGTGCAAACAAAGTCCAAAAAAGTGAAAGCGGGTGGGGGAGTAAAAAGAATAAAAGGAAAGTAAATAGCAAGGAGTGGTTAAGTATTGTCAGTATGTGCCTCAAATAGGTTTCCAGTGTCACTTATTTATACTGTCCCGCAGCAAAGGGGCTCCTAAGTAGAAACATGAAGGCCAGAAAAGAGGCCAAAAATAAAAGCAACCACTTTCACCCAATTTTTCAGATTCCACCCATCACCTCCAAGTATTTAAATATTTTAATACACATTCTAAAACCAGATATTTTATAAGGCTCTGAGTATCCCAAAATTATAAAGTTCATACATTACGGCCCATACACATCAGTAAGAGAAGACTAATAGATTAT
|
Task1_train_16377
|
Given this variant in gene TENM4 (teneurin transmembrane protein 4) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
|
Pathogenic; not provided
|
GGGAGGGCAGCAGGGCAGCACTGAGAAAGCCCAAGCTCTGGCATCAGACTTGGACTGCGATCCCTGTTCTGCCATGTCTCACTATCAAACAGTGGGCAAAGGAGCCTTCAGAGCCTCAGTTTCTATGTCTGTAAAATGGATAATATCACCCATCCTCAGAGCTGTTGTGCAGATTAAATGCAGTGGTGTAGCTCCTAGCCCACAGCTAATACTCAACAAGGCTAGTTCCTTCCCCACCTCTCACATGCTTATCTAATGGTGACATATTCAGCAATCTCAGTCGTGTGAACCATGGCTAAGACCTCAAAAAGCAGCTTAAAAAAATCTAAGTAGAAAGAGCGATGTTAGTCCATTCATTAAATATCTCTTAGAGGAACACCCCAGATATATATATTTAATTGTTGCTAGGATTATAATAAGCTGAACTTCTGGTTCTCTGATCACACCTCTTAAGAAGTCCTCCACTGGATGAAGAATAAAGAAATGAGCTACTTGAGGTGGGCACTAGGACTGAAATAAATAGTGACACCACAGCACAACCCTGAGGGAGGAGGCAGAGAAACCTACCCTTTAGATACAGGGCCTAATAAAGTAATGGTTTAAAATCACTTCAGGCAGGGGCAAAGGGCTCTATATCCTCATTTCCCTACTTCCTGAAAGCTCTCTTCATATTACAGCGTAATATGCAATTGTTGTTCCTTATTAATGACCCTGAATCAGAAAAAGAAAGGTTTCATTATGTCTGTGTAGTGTGTTTGAGAAGGGAGGTATGCAATACACTTCATAAGAAAAGTCCCATGCAAAATGGTTAAAATGAAAAGGGTTTTTTTTTGGAATTTGAAGACAAGAGCTTCAATTATGTGGAAAATTCATCCACATGTGCCTGTTCCTTCTCCCCTTGCCACATTTGTGGACAGTGGTCATATGAAGATGCTAGCACTTCATCAGGTAAGTACTTTTCATCTACACCATCTCCCTGTGGTATGCTGGGCAGGTATCCACTGTATCCATTCTACAGATGTGGAAACTGAGGCCAATAGGGATTAAGTCCATGGTAGAGTGGGAACTGATGCCCAGCTCCTCTGACTCCAAAGCTTATGCCTTCTCCACTAGACCATTTCCTTCCTAGGAGAAATCATGTGGAATATGAACATGTAGAATGTATTATAAGTAATAGTTTTTATCCCAAATCCTGAATTAAAATAAAATACTCGATCAATTTACCTCCAATCCTACAATGAATTAATGAAACAAAATCATCAAATGGCCTTGTTTTAGTACTTACTCATAAAATGTTGTCCATCCGTTTTCATTGCTTTTGGTTGCCAGAAGGCCGGAATTGCCATGGTATGTCATCATGGCCAACTCGTGTCCTTGTGTGGTCACACTCTTGAGTGCACTGTTGGTGCCCATGGTCACCCAGTACACCTGGCCATCTGGGACCACCAGCCAGAGGGGCATCCCAGTAGAGTCTCGGCGGACATTTACCATGTTGCCATTGTTGTCTGTGATGAGTGTGATGTCGCCGTCCCCAGTGTAGGTGAAGTTGTACAGGTAGTCTCCTGTGGGCAGGCTTTGGGTGTACAGGTGCTTGCCGGTGGTATCAAACAGATAGAGCTCCTGGTCAATTGGTGAAGACAGCTCATACATGTTCTGGGTGTTGAGGAAAGGCTTGTTCTTCCGGATAAACCGAATTCGGATGTTCCCAAGGTCGGCCACGTAGAGCTCCCCATCAGCACACACAGCCAAGGAAGATGGGGTATTTAACTTTGCATCCTTGGCATAACCATCGTCTCCAGAAAAACAATCACAGTTGGCATCATTTTTACAGTCACAGCCACTGGGGGCCCCAGCAACGAGTGAGATCTCTCCACTAGTGGTGACCTGCCTGATGCGGTTGATCTTTTTCTCATCAGTCTCAGCAATATACAGGACCCCATTGTGTGAAACAGCCAAAGCGGTGGCTGACTCCAGGGTTGCGTGGATGGCCACCTTGCTTAGCAGGAAGTGGTCAATGCCAGGGACCTGGCAGTGCATGGGCCTCCCGGCGACAATGCGCACCTGGTGGTTTTCAGAGATTTGCAGGACCACATTGTTGTCGAGGACATAAAGTGAGTTGTCCATTGGGTTGATGGCTAAGTCTGTGGGCCACTCCAGGTGAACCTGACAATGAAGACACCGATACTCAAATGACTGGCAAGATGCCCACCACTAATCCATCCCATAGCCCATGTAGCCCATAACAGTGTCCAAAGTGGCTTCATATACAGTCTTGCTTGATCCTCATGCAGCCTATCATCAACAATGAAGCGTCAGCCCCCTGATCACCGGGAAACCATGAAAGAGCTGCCACTGAGACATGTGATGGTCTCATTAGACTGACAAAACATGAAGAAGGAGTTAACAACAACAAAATAGTAGGCAAAAGGGTAGACTTTGGAGTCAAATAGGCCTGAGTTCAGAGCATAGTCCACTACTTATGACTGTGGGCAAGTTACTTTGCCTCTCTGAGCTTCAATAGTCACATATGGGAAATGGGAATGACAAGAGCACAGAGTCCCTGACCCACCATAACCCACCAAATAATGGCAGCTGATGTTCTAAGATGGGAGGGAAAGGCAGATGGAGTCTGGAGGCTGAAGTAGGAGTTGTTCAGAGGCTTAAGAAAGATTCTTCATACATGGTTGATATGATACATGTATGATTTCTCAATTCTTTGAGTTCATGGATTAACAGCTGGCTAGCTGCTAGAGACATAAAGACAAGCTAACCATGGCCTCTGTCTGTCATAGTTCTAGACCAGTGATTCTCAAATCTGGCCTCACATTCAAATTATCTGTGGCGATTTTAGAAAATAATGGTGGGAAAACCCCACCCTTGGTGGGTGAAATCAGATCCCTGGGCTTGGAGCTTGGGCATCGGCATTATTTTGAAAAGCTTCCTGAGTGATCCTGATGTGGGCTTGAGAATCATGACTGGATCCTTGCTCCTTATGTGTGGTCATCAGCATCAGCTCACCTAGGAGCTGAGCATAAACGCAGAATGACAGGCCTCCTCCAAACCTACTGAATCAGTATCTGCACTTAAGCAAAATCCCCAGGCGATTTCTGTGCACACTAAGGTTTATGAAGCCCTGCTCCAGACAGTGGTTCTAGTACCTCAGAGAACAGGTCCACCTGGAAAGGATTACTGAAGCTGGTTGTAGGAACTAGGAGTTCAGAAGTGCTGGGCCCCATGTGGAACCTCCTCTGAGCCAGGCTGGGAAACTGGCATAGGTCATGGTGAGTCTTCAAGTGGGCACCCAGGGGATTGTAGCTGGCATGGTCTGAGGGGAGGAGTGTTTTCTTCAGTGGACTTGAAGGCTGGATTGTTGGATCTATCACACTAGGAGGTATTGGCACTAAGGGGAACCCTTTGCCACCTGTGTCTCTAGGAGGTCCAGCCATGTTTTGTGTGGGCTGGAAGTGCCGACAGGTGCACCCTACTGCTGATTTTTCCACCCCACCTAAAAATTCACTGCCTTAGACTTCCTGAGCCCCCTACAAACCCTTGATATTTGGTCCAATCTGGGGTGCGCTTAAGCAAGTGTATACCTTTATTTTAATTTACTTATGTATGTATGTATGTGTATGACTGGGTCTCACTCTGTCACCCGGGCTGGAGTGAAGTGGTACAATCTTGACTCACTGCAGCCTCCACCTTCCAGGCTAAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGTACTACAGGCATGTGCCACCACACACACACACACACACATATATATATACACACACACACACACACACACACACACACATATATATATAAATATATACATACATATACATATGTATGTGTGTGTGTCTATATATATATATACACGTGTATGTCTATGTGTATGTATGTGTGTCTATATATATATATATATATATATATATATATATATTTGTAGAGACAGGGCTTTGCTATATTACCCAGGCTGGTATCAAACTCCTGGGCTCAAGCAATTTGCCTACCGTGGCCTTCCGAAGTACAGGGATTACAGGTGTAAGCCACTGTGTTTGGCCTAAGTGTATGCTTTTAGATAA
|
GGGAGGGCAGCAGGGCAGCACTGAGAAAGCCCAAGCTCTGGCATCAGACTTGGACTGCGATCCCTGTTCTGCCATGTCTCACTATCAAACAGTGGGCAAAGGAGCCTTCAGAGCCTCAGTTTCTATGTCTGTAAAATGGATAATATCACCCATCCTCAGAGCTGTTGTGCAGATTAAATGCAGTGGTGTAGCTCCTAGCCCACAGCTAATACTCAACAAGGCTAGTTCCTTCCCCACCTCTCACATGCTTATCTAATGGTGACATATTCAGCAATCTCAGTCGTGTGAACCATGGCTAAGACCTCAAAAAGCAGCTTAAAAAAATCTAAGTAGAAAGAGCGATGTTAGTCCATTCATTAAATATCTCTTAGAGGAACACCCCAGATATATATATTTAATTGTTGCTAGGATTATAATAAGCTGAACTTCTGGTTCTCTGATCACACCTCTTAAGAAGTCCTCCACTGGATGAAGAATAAAGAAATGAGCTACTTGAGGTGGGCACTAGGACTGAAATAAATAGTGACACCACAGCACAACCCTGAGGGAGGAGGCAGAGAAACCTACCCTTTAGATACAGGGCCTAATAAAGTAATGGTTTAAAATCACTTCAGGCAGGGGCAAAGGGCTCTATATCCTCATTTCCCTACTTCCTGAAAGCTCTCTTCATATTACAGCGTAATATGCAATTGTTGTTCCTTATTAATGACCCTGAATCAGAAAAAGAAAGGTTTCATTATGTCTGTGTAGTGTGTTTGAGAAGGGAGGTATGCAATACACTTCATAAGAAAAGTCCCATGCAAAATGGTTAAAATGAAAAGGGTTTTTTTTTGGAATTTGAAGACAAGAGCTTCAATTATGTGGAAAATTCATCCACATGTGCCTGTTCCTTCTCCCCTTGCCACATTTGTGGACAGTGGTCATATGAAGATGCTAGCACTTCATCAGGTAAGTACTTTTCATCTACACCATCTCCCTGTGGTATGCTGGGCAGGTATCCACTGTATCCATTCTACAGATGTGGAAACTGAGGCCAATAGGGATTAAGTCCATGGTAGAGTGGGAACTGATGCCCAGCTCCTCTGACTCCAAAGCTTATGCCTTCTCCACTAGACCATTTCCTTCCTAGGAGAAATCATGTGGAATATGAACATGTAGAATGTATTATAAGTAATAGTTTTTATCCCAAATCCTGAATTAAAATAAAATACTCGATCAATTTACCTCCAATCCTACAATGAATTAATGAAACAAAATCATCAAATGGCCTTGTTTTAGTACTTACTCATAAAATGTTGTCCATCCGTTTTCATTGCTTTTGGTTGCCAGAAGGCCGGAATTGCCATGGTATGTCATCATGGCCAACTCGTGTCCTTGTGTGGTCACACTCTTGAGTGCACTGTTGGTGCCCATGGTCACCCAGTACACCTGGCCATCTGGGACCACCAGCCAGAGGGGCATCCCAGTAGAGTCTCGGCGGACATTTACCATGTTGCCATTGTTGTCTGTGATGAGTGTGATGTCGCCGTCCCCAGTGTAGGTGAAGTTGTACAGGTAGTCTCCTGTGGGCAGGCTTTGGGTGTACAGGTGCTTGCCGGTGGTATCAAACAGATAGAGCTCCTGGTCAATTGGTGAAGACAGCTCATACATGTTCTGGGTGTTGAGGAAAGGCTTGTTCTTCCGGATAAACCGAATTCGGATGTTCCCAAGGTCGGCCACGTAGAGCTCCCCATCAGCACACACAGCCAAGGAAGATGGGGTATTTAACTTTGCATCCTTGGCATAACCATCGTCTCCAGAAAAACAATCACAGTTGGCATCATTTTTACAGTCACAGCCACTGGGGGCCCCAGCAACGAGTGAGATCTCTCCACTAGTGGTGACCTGCCTGATGCGGTTGATCTTTTTCTCATCAGTCTCAGCAATATACAGGACCCCATTGTGTGAAACAGCCAAAGCGGTGGCTGACTCCAGGGTTGCGTGGATGGCCACCTTGCTTAGCAGGAAGTGGTCAATGCCAGGGACCTGGCAGTGCATGGGCCTCCCGGTGACAATGCGCACCTGGTGGTTTTCAGAGATTTGCAGGACCACATTGTTGTCGAGGACATAAAGTGAGTTGTCCATTGGGTTGATGGCTAAGTCTGTGGGCCACTCCAGGTGAACCTGACAATGAAGACACCGATACTCAAATGACTGGCAAGATGCCCACCACTAATCCATCCCATAGCCCATGTAGCCCATAACAGTGTCCAAAGTGGCTTCATATACAGTCTTGCTTGATCCTCATGCAGCCTATCATCAACAATGAAGCGTCAGCCCCCTGATCACCGGGAAACCATGAAAGAGCTGCCACTGAGACATGTGATGGTCTCATTAGACTGACAAAACATGAAGAAGGAGTTAACAACAACAAAATAGTAGGCAAAAGGGTAGACTTTGGAGTCAAATAGGCCTGAGTTCAGAGCATAGTCCACTACTTATGACTGTGGGCAAGTTACTTTGCCTCTCTGAGCTTCAATAGTCACATATGGGAAATGGGAATGACAAGAGCACAGAGTCCCTGACCCACCATAACCCACCAAATAATGGCAGCTGATGTTCTAAGATGGGAGGGAAAGGCAGATGGAGTCTGGAGGCTGAAGTAGGAGTTGTTCAGAGGCTTAAGAAAGATTCTTCATACATGGTTGATATGATACATGTATGATTTCTCAATTCTTTGAGTTCATGGATTAACAGCTGGCTAGCTGCTAGAGACATAAAGACAAGCTAACCATGGCCTCTGTCTGTCATAGTTCTAGACCAGTGATTCTCAAATCTGGCCTCACATTCAAATTATCTGTGGCGATTTTAGAAAATAATGGTGGGAAAACCCCACCCTTGGTGGGTGAAATCAGATCCCTGGGCTTGGAGCTTGGGCATCGGCATTATTTTGAAAAGCTTCCTGAGTGATCCTGATGTGGGCTTGAGAATCATGACTGGATCCTTGCTCCTTATGTGTGGTCATCAGCATCAGCTCACCTAGGAGCTGAGCATAAACGCAGAATGACAGGCCTCCTCCAAACCTACTGAATCAGTATCTGCACTTAAGCAAAATCCCCAGGCGATTTCTGTGCACACTAAGGTTTATGAAGCCCTGCTCCAGACAGTGGTTCTAGTACCTCAGAGAACAGGTCCACCTGGAAAGGATTACTGAAGCTGGTTGTAGGAACTAGGAGTTCAGAAGTGCTGGGCCCCATGTGGAACCTCCTCTGAGCCAGGCTGGGAAACTGGCATAGGTCATGGTGAGTCTTCAAGTGGGCACCCAGGGGATTGTAGCTGGCATGGTCTGAGGGGAGGAGTGTTTTCTTCAGTGGACTTGAAGGCTGGATTGTTGGATCTATCACACTAGGAGGTATTGGCACTAAGGGGAACCCTTTGCCACCTGTGTCTCTAGGAGGTCCAGCCATGTTTTGTGTGGGCTGGAAGTGCCGACAGGTGCACCCTACTGCTGATTTTTCCACCCCACCTAAAAATTCACTGCCTTAGACTTCCTGAGCCCCCTACAAACCCTTGATATTTGGTCCAATCTGGGGTGCGCTTAAGCAAGTGTATACCTTTATTTTAATTTACTTATGTATGTATGTATGTGTATGACTGGGTCTCACTCTGTCACCCGGGCTGGAGTGAAGTGGTACAATCTTGACTCACTGCAGCCTCCACCTTCCAGGCTAAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGTACTACAGGCATGTGCCACCACACACACACACACACACATATATATATACACACACACACACACACACACACACACACATATATATATAAATATATACATACATATACATATGTATGTGTGTGTGTCTATATATATATATACACGTGTATGTCTATGTGTATGTATGTGTGTCTATATATATATATATATATATATATATATATATATTTGTAGAGACAGGGCTTTGCTATATTACCCAGGCTGGTATCAAACTCCTGGGCTCAAGCAATTTGCCTACCGTGGCCTTCCGAAGTACAGGGATTACAGGTGTAAGCCACTGTGTTTGGCCTAAGTGTATGCTTTTAGATAA
|
Task1_train_16378
|
Assess the clinical impact of this variant on gene TENM4 (teneurin transmembrane protein 4), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable.
|
Pathogenic; Tremor, hereditary essential, 5
|
TGTGCTCTCCCTTGCTTACCTCCCTGCTCCCCATGGGGCAGCGGAGTAGAGAGGAAGCTCTGAGAATGAAAGCCAGTGACACCTGCGCAAATGTGTCTGTAAAATAGATGCCAGTATTGGAGAGTTTGGTTAAAGAAAATCCCATGCTGACATTCAGACAAAGGTAGTGAGGGCCTTTAGAGATTTCAGTCCAGGATTTCTGAATCTAAGTGTGGGTTTTAGCATTTTTTTCCCCCTCCGCCATATGCCAGTTGTCTTCCAAGCCTTTGATCCGGCTGCTTGGCAGTACCTCTATCTAAAGTTAAACAATTTTCCGATGTGTGGACTGAAAATTTTCGGCACCCTGTGCTGGCTGGTTGAGGGCCCATTTTGAGAATTGAAAATACTTGTATGCACATCCTTAGGCCATGGCTTCCTGACGGGTAATTCAAGCTTGCTCACAGACTGGAGAGGGAAACTCACTAGCCAGCAAGGGTAAGCCTGCCAAAACTGCAAAGACGAGTGGCAGAGAACAGCATCCACTCTGGAGTGTAATAATCACATTAGCTGGTGCAGAGGGAAACCATCCCAGCATGCGATGGGGAGGTGACATGAGTGCTGGGACCTCCAGCAGCATCCACAAGGCTCTGTGGAAGGACTTAGCGATACATGTCAGTAACAGAGGTAGGCATGACCAGAAAGGCTGGAAGCAGGTGACACAGTCAGTGGAAAAGGGCCTGTGTGTGCAGGCTCCCCTAAAAATGAAGGGGTTTAAAAAGCTAAATGTTGCTGGAGCTGAAATCAATTTGCAATTTGATGTAACTCAATGCTCCTGATTTCCCAGGTTTTGGTAATGTTGGCAAGATTCAGCACAGGCCACTGATTCAGCATGGGCCTGGCCCAGCCAAAGGATCCAGCAACAAAGGACATACCCTTGCCAAGTCATCACAGGATGTACTAAGGACATGCTGGATAGCCAGTCACTTGTGTCTCTTTTTGACCTATAATGGGTTCCTGGTATCCACCTGCAAATGTGCAAACTCTTTGGCATGGTACAACAGGGTCCGTCCCTTCCTGGACCCAAACCATGCTTCTTGTTTTAACTGCGGCCACCTGCTTCCAAGCACCCTATGCTATGGTTTTCAATTTTCCACTATTCTTTGAGTGTACCAGCCTCATTAACATCTTTGTGCCTTTGCACATGCTGTTTCCTTTGTGTGAAATGTCTCCTTTTCTTTCTTGCCACTCAGCAAACCCCTATTCTATTCAACCTGTAAAACTTGCATAAATGTCACCTCTTGTGTGAAAGCAGGCACTCTAACTTTTGTTCATTCATCACCTCTGAAGGGCCAAGCAATGCTAGGAGTCGTGGATGCATTGTTTCATGTATCTTCAGGGTAATCCTACTGGGCCGATGTGAATTATTTCCATTTCACAGATATAAAAAGTGAGGCTCAAAAGAAAGTTACTGAGTGAGTGAGTGGCAAAAGCTAGGATTCAATCAATCGATTAATCAATCAGCAAGTATAGACTGTGCCCAAATTTGGGTAGCCAGGCACCCTGGTTACTGACAGCATTTCTGTCCTCACATAGCTTAGAAAGAGAACAGGCAATGTACAAATACCCATCAGTGTTACCAAAGAGGAAGTTCAGGTGGCAATGGATTTAATGTCACGTGGTGTAAAGCTCTGTCTATCCTACTCTGCTGCTGCTGAGGTTTCCTTAGGGAGATTTCTTCACTGTCCCCTGGGCTTCCACTTGTTACTCCTGATGGTGAACTCCCAGGACATGGCTGTATCTTACTTGTCTTTGTGTCCTTGGTGCTCATCACAGCCTGGCACCAAGTAGGTGCTCTTTAAAGGCTTATCAGTGCAAAGATGAATGGCCAGCAGGCTGGCTGGGTGGCAGATGAGAGGATGAGTGGGCAGTCCCAGGGCTTTGGTAGATGAAGCCATCTTACCTGGGAAATATCCATGACAGAATCACAGCTGAGTGGCCGGGCTGATGTGAGATCATTAGAGCCGAGCAGGGTGGAGATGATCCCATTCTGATCGATGCGTCTGATCATGGTGCCATCCACGAAGTAGATCAGCCCAAACTTGTCCACTGTAATGCCTGGGGGCAGAGAAGCCAAAACAGGAACTCAGCATCAGAGATGACAATGACCCGCACATTCCTGGAGCCTTGCTAACTGACAGAGCACCTCCTCTACATGATTGGGTTTGAGCCTCCCACAACCTTCATTCCTCTCTCAAAGAGGAGGAGTCTCAGGCTCAGAGGCCTTGAGTGACTTGTTCAAAGCAGGGATTAGAACTTTTTCAGATCTTCCAGGGCTCTGGTCCTCCCACCTTGCTGCCTCCTGAGATTTTAATCTATCCCCTTAGCCATCCACTAAACCTGGATTCATAACTTCTGGGGGTTTTTAAGCACTAGAGATACAGTGGTAAGGAGGATCTTTTTCAATATTAACACTGTGAATTATTTAAATTCACCTATTTCTGAAGCTCTGTAATTATAATAATTAGTTCCCCTTTTTGGTAACCATTTTTCTTTTCTTTCTTTTTCTTTCTTTTTTTTTTTTTTTAAAAAAAGAGTCTCGTTCTGTCACCCAGGCTGTAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTCTGCCTTAGCCTCCCAGTTAGCTGGGACCACAGGCATGCGCCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTAGTAGAGATGAGATTTCACCATGTTGGTCTTGAACTACTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCATGCCCGGCCCGTCCTTCATGCTTTTCTATTCTTATTATTTTAGTCTCACTGATCATTACAAAACTACGGAATCTGAATAGAATCCTATGGATTTGTGTAGAGAATATTGTTGAATTGAATTTCTAAAGGCAGCACACTGAGGAGAGGAGTCAGAATCATTACTCAACATCACCTGCTCCATTCACTAGACTGTCTCACCCTGTTAACTTTCTCCCTGACCCAACTTGTGTGACCTCGGGCAAGTCACTGAGCATCTCTGTGTTTGTCTTCCCAGCTGTCAAACAATGAGATTGCTCCAAATCTGTATTTCTCACTCTTGGATGTGTATGGGAATCCCCTGGGGAGTTTGCTAAACTGCACCCCCCAGGTAGCTGCTTCAAAATATCTCAAGTGGAGTCTGAGCTACTATCTGCATTTTTGACAAGCACCTTGGGTGATAATGACACAAACCAGAGTCTGAGAACCACTCCACTGTATCAGTACCTCTCAGCCTGTGATGTGCATCACAGGCACCTGAAGAGGTTTTTCAATATACACCTGCTGGCCTAACTCCTGGAAATACGAATTCAGCGGGTGGCTAGGACCAGGAACAGGGTGCTTTAATAGTGTACATGGGTGATAGTAATTTCCATCCCAGGTTCAGAATCGCAAGAATCAGACATAACCATGAACTGTCGTGGGATACAGATGAGACATGGCCCTGGGCAGCACCCAGTTTAGATGGAAAGGCACAGGAATGAATCAGTACCATGTGAGCAGCACAAGAAAGGACAGACTCAAGAGGGTCATGGTAAAATACAGGAGATTCTGGTCACTTTTGTTTCACTATGTTTTCTCTGGGGAAGGCAGTGGAAGAAGGGTCAGGAAGCCTTCACCAAGGTGGAGAGACTTGAATTATAAAATTTTCTGGTCGTATTAACTTGGGCATATTACTTCACTTTGAAGTCTTCATTTCCTCATTGATAAAACAGGGATTCTAACATCTGACTTGTAGTAACTAGCCCTCAATAATTATTAATGACCATTGTAAAAATGAGAAAGTGGCTGGCACTTTGTGAGTTTCAAGGCCTTTGCTCCGGGGACCCACGTGTCTCTCACTGGCCAGCAGGGTGCTTTAAGATGCCCAGGGGCCTCTGAGTGCTGAGAACCTGCTGGAGCACCAACTGTTCCTTCTTAGGCTGGTCAGGCTGGAGAGTGATTTCACACAGAGGACCAGGCAGCCTCAAGGCTGGGAAGCCTTTCTCATGGTCCTGTCGTGAATG
|
TGTGCTCTCCCTTGCTTACCTCCCTGCTCCCCATGGGGCAGCGGAGTAGAGAGGAAGCTCTGAGAATGAAAGCCAGTGACACCTGCGCAAATGTGTCTGTAAAATAGATGCCAGTATTGGAGAGTTTGGTTAAAGAAAATCCCATGCTGACATTCAGACAAAGGTAGTGAGGGCCTTTAGAGATTTCAGTCCAGGATTTCTGAATCTAAGTGTGGGTTTTAGCATTTTTTTCCCCCTCCGCCATATGCCAGTTGTCTTCCAAGCCTTTGATCCGGCTGCTTGGCAGTACCTCTATCTAAAGTTAAACAATTTTCCGATGTGTGGACTGAAAATTTTCGGCACCCTGTGCTGGCTGGTTGAGGGCCCATTTTGAGAATTGAAAATACTTGTATGCACATCCTTAGGCCATGGCTTCCTGACGGGTAATTCAAGCTTGCTCACAGACTGGAGAGGGAAACTCACTAGCCAGCAAGGGTAAGCCTGCCAAAACTGCAAAGACGAGTGGCAGAGAACAGCATCCACTCTGGAGTGTAATAATCACATTAGCTGGTGCAGAGGGAAACCATCCCAGCATGCGATGGGGAGGTGACATGAGTGCTGGGACCTCCAGCAGCATCCACAAGGCTCTGTGGAAGGACTTAGCGATACATGTCAGTAACAGAGGTAGGCATGACCAGAAAGGCTGGAAGCAGGTGACACAGTCAGTGGAAAAGGGCCTGTGTGTGCAGGCTCCCCTAAAAATGAAGGGGTTTAAAAAGCTAAATGTTGCTGGAGCTGAAATCAATTTGCAATTTGATGTAACTCAATGCTCCTGATTTCCCAGGTTTTGGTAATGTTGGCAAGATTCAGCACAGGCCACTGATTCAGCATGGGCCTGGCCCAGCCAAAGGATCCAGCAACAAAGGACATACCCTTGCCAAGTCATCACAGGATGTACTAAGGACATGCTGGATAGCCAGTCACTTGTGTCTCTTTTTGACCTATAATGGGTTCCTGGTATCCACCTGCAAATGTGCAAACTCTTTGGCATGGTACAACAGGGTCCGTCCCTTCCTGGACCCAAACCATGCTTCTTGTTTTAACTGCGGCCACCTGCTTCCAAGCACCCTATGCTATGGTTTTCAATTTTCCACTATTCTTTGAGTGTACCAGCCTCATTAACATCTTTGTGCCTTTGCACATGCTGTTTCCTTTGTGTGAAATGTCTCCTTTTCTTTCTTGCCACTCAGCAAACCCCTATTCTATTCAACCTGTAAAACTTGCATAAATGTCACCTCTTGTGTGAAAGCAGGCACTCTAACTTTTGTTCATTCATCACCTCTGAAGGGCCAAGCAATGCTAGGAGTCGTGGATGCATTGTTTCATGTATCTTCAGGGTAATCCTACTGGGCCGATGTGAATTATTTCCATTTCACAGATATAAAAAGTGAGGCTCAAAAGAAAGTTACTGAGTGAGTGAGTGGCAAAAGCTAGGATTCAATCAATCGATTAATCAATCAGCAAGTATAGACTGTGCCCAAATTTGGGTAGCCAGGCACCCTGGTTACTGACAGCATTTCTGTCCTCACATAGCTTAGAAAGAGAACAGGCAATGTACAAATACCCATCAGTGTTACCAAAGAGGAAGTTCAGGTGGCAATGGATTTAATGTCACGTGGTGTAAAGCTCTGTCTATCCTACTCTGCTGCTGCTGAGGTTTCCTTAGGGAGATTTCTTCACTGTCCCCTGGGCTTCCACTTGTTACTCCTGATGGTGAACTCCCAGGACATGGCTGTATCTTACTTGTCTTTGTGTCCTTGGTGCTCATCACAGCCTGGCACCAAGTAGGTGCTCTTTAAAGGCTTATCAGTGCAAAGATGAATGGCCAGCAGGCTGGCTGGGTGGCAGATGAGAGGATGAGTGGGCAGTCCCAGGGCTTTGGTAGATGAAGCCATCTTACCTGGGAAATATCCATGACAGAATCACAGCTGAGTGGCCGGGCTGATGTGAGATCATTAGAGCCGAGCAGGGTGGAGATGATCCCATTCTGATCGATGCGTCTGATCATGTTGCCATCCACGAAGTAGATCAGCCCAAACTTGTCCACTGTAATGCCTGGGGGCAGAGAAGCCAAAACAGGAACTCAGCATCAGAGATGACAATGACCCGCACATTCCTGGAGCCTTGCTAACTGACAGAGCACCTCCTCTACATGATTGGGTTTGAGCCTCCCACAACCTTCATTCCTCTCTCAAAGAGGAGGAGTCTCAGGCTCAGAGGCCTTGAGTGACTTGTTCAAAGCAGGGATTAGAACTTTTTCAGATCTTCCAGGGCTCTGGTCCTCCCACCTTGCTGCCTCCTGAGATTTTAATCTATCCCCTTAGCCATCCACTAAACCTGGATTCATAACTTCTGGGGGTTTTTAAGCACTAGAGATACAGTGGTAAGGAGGATCTTTTTCAATATTAACACTGTGAATTATTTAAATTCACCTATTTCTGAAGCTCTGTAATTATAATAATTAGTTCCCCTTTTTGGTAACCATTTTTCTTTTCTTTCTTTTTCTTTCTTTTTTTTTTTTTTTAAAAAAAGAGTCTCGTTCTGTCACCCAGGCTGTAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTCTGCCTTAGCCTCCCAGTTAGCTGGGACCACAGGCATGCGCCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTAGTAGAGATGAGATTTCACCATGTTGGTCTTGAACTACTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCATGCCCGGCCCGTCCTTCATGCTTTTCTATTCTTATTATTTTAGTCTCACTGATCATTACAAAACTACGGAATCTGAATAGAATCCTATGGATTTGTGTAGAGAATATTGTTGAATTGAATTTCTAAAGGCAGCACACTGAGGAGAGGAGTCAGAATCATTACTCAACATCACCTGCTCCATTCACTAGACTGTCTCACCCTGTTAACTTTCTCCCTGACCCAACTTGTGTGACCTCGGGCAAGTCACTGAGCATCTCTGTGTTTGTCTTCCCAGCTGTCAAACAATGAGATTGCTCCAAATCTGTATTTCTCACTCTTGGATGTGTATGGGAATCCCCTGGGGAGTTTGCTAAACTGCACCCCCCAGGTAGCTGCTTCAAAATATCTCAAGTGGAGTCTGAGCTACTATCTGCATTTTTGACAAGCACCTTGGGTGATAATGACACAAACCAGAGTCTGAGAACCACTCCACTGTATCAGTACCTCTCAGCCTGTGATGTGCATCACAGGCACCTGAAGAGGTTTTTCAATATACACCTGCTGGCCTAACTCCTGGAAATACGAATTCAGCGGGTGGCTAGGACCAGGAACAGGGTGCTTTAATAGTGTACATGGGTGATAGTAATTTCCATCCCAGGTTCAGAATCGCAAGAATCAGACATAACCATGAACTGTCGTGGGATACAGATGAGACATGGCCCTGGGCAGCACCCAGTTTAGATGGAAAGGCACAGGAATGAATCAGTACCATGTGAGCAGCACAAGAAAGGACAGACTCAAGAGGGTCATGGTAAAATACAGGAGATTCTGGTCACTTTTGTTTCACTATGTTTTCTCTGGGGAAGGCAGTGGAAGAAGGGTCAGGAAGCCTTCACCAAGGTGGAGAGACTTGAATTATAAAATTTTCTGGTCGTATTAACTTGGGCATATTACTTCACTTTGAAGTCTTCATTTCCTCATTGATAAAACAGGGATTCTAACATCTGACTTGTAGTAACTAGCCCTCAATAATTATTAATGACCATTGTAAAAATGAGAAAGTGGCTGGCACTTTGTGAGTTTCAAGGCCTTTGCTCCGGGGACCCACGTGTCTCTCACTGGCCAGCAGGGTGCTTTAAGATGCCCAGGGGCCTCTGAGTGCTGAGAACCTGCTGGAGCACCAACTGTTCCTTCTTAGGCTGGTCAGGCTGGAGAGTGATTTCACACAGAGGACCAGGCAGCCTCAAGGCTGGGAAGCCTTTCTCATGGTCCTGTCGTGAATG
|
Task1_train_16379
|
A variant on Chromosome 11 in gene TENM4 (teneurin transmembrane protein 4) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
|
Pathogenic; Tremor, hereditary essential, 5
|
GAAACCACTTCTGACTCCTTTCCGTCATTGTAAAAAGCCAAGTGCCAGATTCCTGAATCCAAATACTGGATGAAGCCTGTCTCATGGCTGGAGGGGGGCACAGTTCCCCGAGACTGGCGCGGGGTCCCCTCTAGGCTCCGCGCCTCCTGGGTTAGGAGCCTCCTGCCATCCAGCAGCTCCACAAAGTCAAACTGAAAGACAGAGAAAGCACAGTTAGCAGTGGGTCTGTTCCACCACGCACCAGCGTCCTTCCCGGGGCTTCTCCTGGAGAGGACATTGGGAAACACAAATAGAGGCAAAAAGGGCCCAAAGAGGCTAAGGGTGCAGGAAGGTTGATCAATCAACTCAACTCTTCCCCAGACCCATTTTTTCATGGTGATATTCTCCCGGTTCTCCTGTGAGTGAGGCATAATTAGAGGATTATTTTTTAGTCTCATTTTGTTTTAGTTCTTTTTGTACTGGTGGTGAATCTTCCCCTGGCTGAGTCTGTACCAGGACAACCATGCTTTTTTGCAATGCCGGGTGTGTGGTTAGAAACACAGCCACTTTACAATTGGTTGAACTTCATGCAAGTCCTGACAAGAATCTTGGGGGGTGGTGGAGGGGAGCAGAGGCGGGTGGCTGGGACTGGGATTGGAGCATTGGATGTGATTGGAACATCAGTCATGTGCAAATGAAAATTTGATTTATGTCTATTTTCCTTTGGTCAATGGTTCTTTCTGAATGTTCTAGTTTCAGGGAGCAAATTTAGGGGAACTCAACTGGATTAGCTCAAAACTCTATCAATAATTACATGCTGTGTCAAATACAATTGCCAATTGATCGGAGACTGCTTGTGTGAGACTCCAGAAAAGTCAGTTACACTGTGTTAACAACAAGTAGGTGGTTAAGTCCTACTGGCCTATTAGCAAGCAAATTGGGTAGTTATCTAGCTAGCTAGCTAGCTAGCTTTAAAAACCAAACAAGATATTTATTCAATTTCATGAAAAACTGTCTGGAGATATGCAGGCCAGGACTAGCATACCAGTCTGCAGTCAACAGGGTCTCAAGGCTCTTCTCCTGTGATTCCTTCTTTAGCAAACATATCTGTCTTTTAGCTAAAAATCTTAAATAACTACTAGGGCTAGGAAGGCTGCATTTGGCCTAGGAATGCCTGATGAATGCCTATGATTTACATTACTCCAATTCCAGGGCTGGCAGGACCTTGCACAAGTGTCTGTTCTTCATTAATCATGATTGGTAATATGTCAGTCATCCTGGACAAGGTTTTTTCAGTGTTTCTGGTGTGCATGTGTTTGAGTCAATGTGTAACCCTGAAGGAGAGAAGGAATAAGAAAGACTAGGGAAGAATCATTTATTCTGAGCCAGGTCCTGCACTAGCTGCCTTATAAATGTTATTCTTCTTTCTTCACAACAGCCCTGCCAAGTGGGTATTGTTACCGGCATCTTATAGATGAGGAAACTTGCTCTGAGAAGCTAAGTGATGGAGCCAAGGTTACAATGCTGATAACAAGAGGATTCAAACTCAGATCTGTCTGATTCTAAACTGCATGCTTTTTTCTCTAGATCACATTTCCTGGATAATTTAACTTAGGAGACTGAGTAATAGCAGAAAGGCTGTTAAGAGATTTCCTAGAATTCTTTCCTCCTAGAAAGCCCCAGTGATATAACCTTACTCATCTGAAAGGGTGGGTCTGAGAGGGACTACATGAATGAATGGGCTATAAAATATATAAATGTCCCTTCAGGCTTAAGGCTCTGGATTGGGCTTCTTAACTTTGGGTTAAGATTTGAGGTAGGAGCCCATGCAGATCAACAGGGTATGTGGGGTTCTGGTTACCTGTGTATGTGAAGGAGGGAGGCCTTTTCTGCCATAAATGCCAACCAGGGCTGCCTTTCCCAGAGACACATTGAATTTCAGATGCACAGGATGGTCTATGAACACTTGAGATCTCCAGAAAGTGCCAGGAGGAATCTTCTGGGAAGCTCGCCTTCCCACATCAATTTCTCCAGAATCTATGAAACTGTCCTCTGGAAAGAAACTACTGGGCTTTCCTACCAAGATAGAGGGAAGGGAAGACAAAGACATCTCGGTTAGCCACATGGGAAACGAGAAACCAGGGCATCTGAACACCCGGGACTCTCCTTAGCCTCACATCCTTCTCTATAATGTTCTGCTGTCAGCTTCCTCCCCACCCTGGCCCTCCCCACATGGAGGAGTAAAAAGGTCCAGAACTTTTTTTTCCCCCCAGCGATGCTCAAATTATTCTGCTAAAAATATGCATTCTTCCAAAGCAGTATGGGTCCTCCCCAAGGGCCATCTGTTTACTGCATAATTCCACAGCTTGTTAAGATATATTTTGATCCTAAAAATAATCATTTGTGGTCACATGAAAATAGCTCTGTGATTTGGTGTGTTAAGGGGCTCACGGTAAAATAGAAAGGATGGGGGAACAAAGTGTTATTAATTTTCCAACTCAGAATGAGTCCCCCAGCAGTGGGAAGCATGACTTGATGGAGTAAGGTATTTAAAAAGCTCACTAATTTGTGTATACATTGGAAGCCAAATTCTGAGGCTGATATGTGGATGGGGGGTTGTGCTTAGGGCAGGGTTAGGGGCTGGGGAAGATGAGGAAAAGGTACTTCTGAAAAGAGGAAATATTTCTGCAAAATGTTCCTTTGTCTTTGGATGAGGGTAAATATAATATCTGTGCTAAAATGGGTCAAGCTGAGGGAATTTCCCAAGTTCACACACCAAGCCTATGCCATACCTGGAAATTCCACCCAGGCTCCCAACCCTGTGCTAAGCATCCATGCAGGGTGTCATGAGTAAAGTCTCTCGGCCATTTCTATACTGATTAGGAGGGTGACAGCTCTCTGGGGGCACCACAAATGCAAGCAAGGAAGGCAGCTTATCAAACTCCTTCTATTTAGTAATTAAGCACACTCATATGTGAAAAATACAAACCCTAACTTCCTGCCAGACATCAGCCTCCTGAAGAGTTGAGAAGGAACAGGAGAGACTCTAGGGATGTTAGGAAGACCACCCTTAGCACACTGAAAGACCAGCATCAAGTCAACAGGCTGTATTTTATTTGTTGTTATGAAGGACTTCCTGGGTATCCTGGTTCCAAGCGGTTTTTTTGTGATGTTAGAGATGTTCGAAGAGACACTTCAGAGAACAAGAATTCATTTGTAAAGAAAACACACTTTGGAACTTTTTGTAAACAGCATTTGGGGAATAGGAAATTAAAATGTCTTTCTTTCCCCCTAGCTTTGTAAGACTCCTTACAAAGCACATTTGATGCTGAAATGAAGCCTGGCAGGGCATTGTTGTAGTCATAAAACATTTTACTGTTTTAAATAATAAAATTCAATTTAAATGTTAAACTTCTCCATATGTTATCACTCCCTTATAAACTCCTAGGCAGAAACATCAGGTTTTTAGCTTCAAACTGTTAAATGTTATTTTAATTAAAAATATGCCAACAAAAAAGTTAAAATGTGCACTATCAATAAAAGTACCACTAGTATTCTGTCATTAGCATGGGAAAGAGTTTGCTTTTTAATTCCTTTATGGAAGGAATGTACTTCAGACATCAAATATAGATACAAAAACCACCACGCTGTGATTCACAAAGTTCAAAGACAGAACCCAAATTCACAATGCATTGAGATGGAAGAGAATTATTTACATTCTTTCTTATCTGATTTTTGGGTTCCCAATACCACAGCCATTCTATATTCCAGGAGGAAATAGTCTGCCATCAGCTTTTAATTTTGCTAGGGAGGCAGAACTAAGAGGGAGAATGAAACAAAGCAGATGCCTTCTGAGCTTTTTCCTCCTAGAAACTGAAAAGAAATAAGCACAACACTGCTAGTTCCAAGGATGCGTTTCCTTTGTGAGTAGGTGGCAGTCTGAGCTGATGGGATTTGAGAATTGTCTGAATTCAAATAATTCCCATGTCTGAAAATAAATACTGGAAAACTGCTCCCCCATTTTAGCATGCTGCTGGAGAACCCTGCACAGTTCATTTTCTCCCTCAATGAGCGTATTTTTAGGAGACAGTGACTGTATCAGCTAGGTTTTGCAGCC
|
GAAACCACTTCTGACTCCTTTCCGTCATTGTAAAAAGCCAAGTGCCAGATTCCTGAATCCAAATACTGGATGAAGCCTGTCTCATGGCTGGAGGGGGGCACAGTTCCCCGAGACTGGCGCGGGGTCCCCTCTAGGCTCCGCGCCTCCTGGGTTAGGAGCCTCCTGCCATCCAGCAGCTCCACAAAGTCAAACTGAAAGACAGAGAAAGCACAGTTAGCAGTGGGTCTGTTCCACCACGCACCAGCGTCCTTCCCGGGGCTTCTCCTGGAGAGGACATTGGGAAACACAAATAGAGGCAAAAAGGGCCCAAAGAGGCTAAGGGTGCAGGAAGGTTGATCAATCAACTCAACTCTTCCCCAGACCCATTTTTTCATGGTGATATTCTCCCGGTTCTCCTGTGAGTGAGGCATAATTAGAGGATTATTTTTTAGTCTCATTTTGTTTTAGTTCTTTTTGTACTGGTGGTGAATCTTCCCCTGGCTGAGTCTGTACCAGGACAACCATGCTTTTTTGCAATGCCGGGTGTGTGGTTAGAAACACAGCCACTTTACAATTGGTTGAACTTCATGCAAGTCCTGACAAGAATCTTGGGGGGTGGTGGAGGGGAGCAGAGGCGGGTGGCTGGGACTGGGATTGGAGCATTGGATGTGATTGGAACATCAGTCATGTGCAAATGAAAATTTGATTTATGTCTATTTTCCTTTGGTCAATGGTTCTTTCTGAATGTTCTAGTTTCAGGGAGCAAATTTAGGGGAACTCAACTGGATTAGCTCAAAACTCTATCAATAATTACATGCTGTGTCAAATACAATTGCCAATTGATCGGAGACTGCTTGTGTGAGACTCCAGAAAAGTCAGTTACACTGTGTTAACAACAAGTAGGTGGTTAAGTCCTACTGGCCTATTAGCAAGCAAATTGGGTAGTTATCTAGCTAGCTAGCTAGCTAGCTTTAAAAACCAAACAAGATATTTATTCAATTTCATGAAAAACTGTCTGGAGATATGCAGGCCAGGACTAGCATACCAGTCTGCAGTCAACAGGGTCTCAAGGCTCTTCTCCTGTGATTCCTTCTTTAGCAAACATATCTGTCTTTTAGCTAAAAATCTTAAATAACTACTAGGGCTAGGAAGGCTGCATTTGGCCTAGGAATGCCTGATGAATGCCTATGATTTACATTACTCCAATTCCAGGGCTGGCAGGACCTTGCACAAGTGTCTGTTCTTCATTAATCATGATTGGTAATATGTCAGTCATCCTGGACAAGGTTTTTTCAGTGTTTCTGGTGTGCATGTGTTTGAGTCAATGTGTAACCCTGAAGGAGAGAAGGAATAAGAAAGACTAGGGAAGAATCATTTATTCTGAGCCAGGTCCTGCACTAGCTGCCTTATAAATGTTATTCTTCTTTCTTCACAACAGCCCTGCCAAGTGGGTATTGTTACCGGCATCTTATAGATGAGGAAACTTGCTCTGAGAAGCTAAGTGATGGAGCCAAGGTTACAATGCTGATAACAAGAGGATTCAAACTCAGATCTGTCTGATTCTAAACTGCATGCTTTTTTCTCTAGATCACATTTCCTGGATAATTTAACTTAGGAGACTGAGTAATAGCAGAAAGGCTGTTAAGAGATTTCCTAGAATTCTTTCCTCCTAGAAAGCCCCAGTGATATAACCTTACTCATCTGAAAGGGTGGGTCTGAGAGGGACTACATGAATGAATGGGCTATAAAATATATAAATGTCCCTTCAGGCTTAAGGCTCTGGATTGGGCTTCTTAACTTTGGGTTAAGATTTGAGGTAGGAGCCCATGCAGATCAACAGGGTATGTGGGGTTCTGGTTACCTGTGTATGTGAAGGAGGGAGGCCTTTTCTGCCATAAATGCCAACCAGGGCTGCCTTTCCCAGAGACACATTGAATTTCAGATGCACAGGATGGTCTATGAACACTTGAGATCTCCAGAAAGTGCCAGGAGGAATCTTCTGGGAAGCTCGCCTTCCCACATCAATTTCTCCAGAATCTATGAAACTGTCCTCTGGAAAGAAACTACTGAGCTTTCCTACCAAGATAGAGGGAAGGGAAGACAAAGACATCTCGGTTAGCCACATGGGAAACGAGAAACCAGGGCATCTGAACACCCGGGACTCTCCTTAGCCTCACATCCTTCTCTATAATGTTCTGCTGTCAGCTTCCTCCCCACCCTGGCCCTCCCCACATGGAGGAGTAAAAAGGTCCAGAACTTTTTTTTCCCCCCAGCGATGCTCAAATTATTCTGCTAAAAATATGCATTCTTCCAAAGCAGTATGGGTCCTCCCCAAGGGCCATCTGTTTACTGCATAATTCCACAGCTTGTTAAGATATATTTTGATCCTAAAAATAATCATTTGTGGTCACATGAAAATAGCTCTGTGATTTGGTGTGTTAAGGGGCTCACGGTAAAATAGAAAGGATGGGGGAACAAAGTGTTATTAATTTTCCAACTCAGAATGAGTCCCCCAGCAGTGGGAAGCATGACTTGATGGAGTAAGGTATTTAAAAAGCTCACTAATTTGTGTATACATTGGAAGCCAAATTCTGAGGCTGATATGTGGATGGGGGGTTGTGCTTAGGGCAGGGTTAGGGGCTGGGGAAGATGAGGAAAAGGTACTTCTGAAAAGAGGAAATATTTCTGCAAAATGTTCCTTTGTCTTTGGATGAGGGTAAATATAATATCTGTGCTAAAATGGGTCAAGCTGAGGGAATTTCCCAAGTTCACACACCAAGCCTATGCCATACCTGGAAATTCCACCCAGGCTCCCAACCCTGTGCTAAGCATCCATGCAGGGTGTCATGAGTAAAGTCTCTCGGCCATTTCTATACTGATTAGGAGGGTGACAGCTCTCTGGGGGCACCACAAATGCAAGCAAGGAAGGCAGCTTATCAAACTCCTTCTATTTAGTAATTAAGCACACTCATATGTGAAAAATACAAACCCTAACTTCCTGCCAGACATCAGCCTCCTGAAGAGTTGAGAAGGAACAGGAGAGACTCTAGGGATGTTAGGAAGACCACCCTTAGCACACTGAAAGACCAGCATCAAGTCAACAGGCTGTATTTTATTTGTTGTTATGAAGGACTTCCTGGGTATCCTGGTTCCAAGCGGTTTTTTTGTGATGTTAGAGATGTTCGAAGAGACACTTCAGAGAACAAGAATTCATTTGTAAAGAAAACACACTTTGGAACTTTTTGTAAACAGCATTTGGGGAATAGGAAATTAAAATGTCTTTCTTTCCCCCTAGCTTTGTAAGACTCCTTACAAAGCACATTTGATGCTGAAATGAAGCCTGGCAGGGCATTGTTGTAGTCATAAAACATTTTACTGTTTTAAATAATAAAATTCAATTTAAATGTTAAACTTCTCCATATGTTATCACTCCCTTATAAACTCCTAGGCAGAAACATCAGGTTTTTAGCTTCAAACTGTTAAATGTTATTTTAATTAAAAATATGCCAACAAAAAAGTTAAAATGTGCACTATCAATAAAAGTACCACTAGTATTCTGTCATTAGCATGGGAAAGAGTTTGCTTTTTAATTCCTTTATGGAAGGAATGTACTTCAGACATCAAATATAGATACAAAAACCACCACGCTGTGATTCACAAAGTTCAAAGACAGAACCCAAATTCACAATGCATTGAGATGGAAGAGAATTATTTACATTCTTTCTTATCTGATTTTTGGGTTCCCAATACCACAGCCATTCTATATTCCAGGAGGAAATAGTCTGCCATCAGCTTTTAATTTTGCTAGGGAGGCAGAACTAAGAGGGAGAATGAAACAAAGCAGATGCCTTCTGAGCTTTTTCCTCCTAGAAACTGAAAAGAAATAAGCACAACACTGCTAGTTCCAAGGATGCGTTTCCTTTGTGAGTAGGTGGCAGTCTGAGCTGATGGGATTTGAGAATTGTCTGAATTCAAATAATTCCCATGTCTGAAAATAAATACTGGAAAACTGCTCCCCCATTTTAGCATGCTGCTGGAGAACCCTGCACAGTTCATTTTCTCCCTCAATGAGCGTATTTTTAGGAGACAGTGACTGTATCAGCTAGGTTTTGCAGCC
|
Task1_train_16380
|
This alteration occurs within gene TMEM126B (transmembrane protein 126B) located on Chromosome 11. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 29
|
AGTATCCAAAAGTATTGCTAAAACTTTTGTGCAGTAAATGTATTTTAATTAAAAGTAATTAGGAGAAAACCATTGAGGGGGGTACTTATATTTAATTGGTGAGTAATTATAATCAGTTTAGGATTGATTATCTCAGCCACAGTACTTAGTACAGCAAAAGGGAATACAGATTTCATGGTATAAATATAGTCTCACATTAACATATTGACTTTTTTTTTTGAGATAAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAATCTCCAGCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGTACCACCACAACCAGCTAATTTTTGTATTTTTAGTAGAGATGGTTTAACCATGTTGGCCAGACTGGCCATTTTGACTTTTAAATGAACAAAGTTCAAGAAAAAAATCAAAGGACAGTTGATGTTATTTCCTGGATTTACATATGGGTCTTAATAAGAAAACTAAATCAGATTTTTTTGGATGAAGTTTTATAAATCTTGGACAAATTATTTTATTTTATTTTATTTTATTTCATTTTCTGTTTTATGGCTTTATTGAAGTATAATTTATATATCTTGACATTCATCCATTTAAAGTGTACAGTTATATGAGTTTTAGCAAATTTATACAGTTATGTAACCATCACCACAATTAAAATTTGGAATACTTCCAACATCCCCAAAAAGTTCCCTCATTCCCTTTTATTTTTTTTTATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGTGCTGCACCCATTAACTCATCATTTAGCATTAGGTAGATCTCCTAAAGCTATCCCTCCCCTCTCCTCCCACCCCACAACAGTCCCCAGAGTGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCATTTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCAATAGTTTACTGAGAATGATGATTTCCAACTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGCTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCACAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGTGACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAATTCATGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGGTGAGCATTTTTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCAGGACAAATTATTTTAAATGTATCTGGGACTAATGAAGAAATAGAAGGCCTAACCAAATGTAAACAGCTTTTTTTTAGATGAACTTAAGCAAAGTAAATCTTTTAGTTGCAGGAAAGGTATTCTTGGATTTGGGTAGCTCATAAAATTTGGCTGCATTGGAACATATTTATATTTATTTGTGGCCAAAATTATTTAAAAGAGCTCTATTTTAGAATTACTGTAAATATTCTTAGAAAGAGAATCATGTCCTCTCATTAGAATACAAGTTCTATGAGGGGTGGGAAATTTCTTTTTTTCTTTTGCTTTGTTTACTGTCCTATCTTAAGCACTTAGAAAATACTTTTCACATATAGTAAGTGCTCAAGAAATATTTGATATTGATATGCAATAACAACTTTTCAGGAGAGGCTGTATCCATTAAGTTCAATGGTATAGTGAACTGAATTTTTCTTTTTTTCTATTAGGACACAAAATATATATCAAATGGCGACATTTGGAACAACAGCTGGTTTCTCTGGAATATTCTCAAACTTCCTGTTCAGACGCTGCTTCAAGGTTAAACATGATGCTTTGAAGACATATGCATCATTGGCTACACTTCCATTTTTGTCTACTGTTGTTACTGACAAGCTTTTTGTAATTGATGCTTTGTATTCAGGTGAATTTAAATTCACTAATGTATAACGTAGTTATGTCTAAGTAAAGTTACTTATTAACATATACTGTTGCTACTGCTAATAATAATTCTTTACATTTATATATTGCTATACAGTTTACAAAGTCCATATACCTTGTCATATTTAATCCCTGCAACAATCCTCCTAATCAGGTAAACTGTATTTTTTTATTTCTGTAGATAAGCAACCCAAACTGAGGCATGTTCAAGTACGCTAATAAGCAACATACTGGGAAAAGAATTGGCTGTGGCATACAACGCACATCATTTCAGTATGCTACCTCCTGCCACTTAAGTTTTGTGACATTCAGTAAGGCATTTCATCTCTGAGCCTCCGTTGTCTTATCTATAAGTTAGGACTAATAGTACTTACCTCACAGGATTGTTGTGAGAATTAAAAGATACTGTAGGTTAAATGACTACCACAATATCTGTCATATTATGGGCTTTTAATGTTATTTCCTGCCCCTCACCTTACCTTGAGTTTCACAACTAGTAATTGATAGAGCATCTATCCCTTGTTCATTCTTCAGGTTCCTGCTTAAGTATCTTTTCCCCAGGGAGACCTCTGATTGCCTCATTGTACACTAGGTGTCTGGATACATTCTCTATATAGTTTATCTTCAAAGTATTGTGTACACTGATAATTATCTATTTAAATATTTATCTCGTGTCTTTCATCTCTGTAAACTGGCCAGAAGGTCAGAGATCAGGTCTCTTTTATGTACCACCGTATTCCTAGCTCCTAGCACGTTCCTGATATATAGTAGATAATAAAAATGTATTAACCTAGAATCCAGGTCTGGTTTGCTAGTTTAGTATTGTCATTATAAAATTGTTTCTGGCTGGGCACGGTGGCTCATGCCTATAATCCCAACACTTTGGGAGGCCAAGACAGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACACAGTCTCTACTAAAAATAGAAAAACAGTTGAGCATGGTGGTGCAAGCTTATAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGTACTCTAGCCTGGGCAACAGAGTGAGACTCCGTCTCCAAAAAATAAAATAAAATTGCTTCTACAACAACCACATACGTTAGAGGTAATTCTCTATGTGATAAAGTATAATAAAAACTTTTTAAAATGTGCTGCATTTGGCCTGTTATATGCCACAGAGTTTGAATTTCTAATATTCTTTCTATGGTTTAGTTGTGGTTGAGGATAGTGCAGATAACTACTCTGTGAGGTACAACACTGTCTTAATAGCTCTTGAGTTTTAAAGGAAAACCAAATTTACTTTTGTTTTCCAGATAATATAAGCAAGGAAAACTGTGTTTTCAGAAGCTCACTGATTGGCATAGTTTGTGGTGTTTTCTATCCCAGTTCTTTGGCTTTTACTAAAAATGGACGCCTGGCAACCAAGTAAGTTCTTCCTTTTCCTTCTTTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTTTAGGTTAATAAACTCTCTTTCTTCTTTAGCTGTCTATGATATATTTGAATCAAAATGTGGTAGTTTGGTATTTCAGATAGCTAACTTTTAACTTTTTTGCTCTCTACATTATAGATCTAGAAAGGCAATTATCAATTTAGGAGAAGTCAACAAACTTCTAATAGCATTCATATCCAGGAGAGGTGATTAACTCTTTTTTCTTTTTAGGTATCATACCGTTCCACTGCCACCAAAAGGAAGGGTTTTAATCCATTGGATGACGCTTTGTCAAACACAAATGAAATTAATGGCGATTCCTC
|
AGTATCCAAAAGTATTGCTAAAACTTTTGTGCAGTAAATGTATTTTAATTAAAAGTAATTAGGAGAAAACCATTGAGGGGGGTACTTATATTTAATTGGTGAGTAATTATAATCAGTTTAGGATTGATTATCTCAGCCACAGTACTTAGTACAGCAAAAGGGAATACAGATTTCATGGTATAAATATAGTCTCACATTAACATATTGACTTTTTTTTTTGAGATAAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAATCTCCAGCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGTACCACCACAACCAGCTAATTTTTGTATTTTTAGTAGAGATGGTTTAACCATGTTGGCCAGACTGGCCATTTTGACTTTTAAATGAACAAAGTTCAAGAAAAAAATCAAAGGACAGTTGATGTTATTTCCTGGATTTACATATGGGTCTTAATAAGAAAACTAAATCAGATTTTTTTGGATGAAGTTTTATAAATCTTGGACAAATTATTTTATTTTATTTTATTTTATTTCATTTTCTGTTTTATGGCTTTATTGAAGTATAATTTATATATCTTGACATTCATCCATTTAAAGTGTACAGTTATATGAGTTTTAGCAAATTTATACAGTTATGTAACCATCACCACAATTAAAATTTGGAATACTTCCAACATCCCCAAAAAGTTCCCTCATTCCCTTTTATTTTTTTTTATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGTGCTGCACCCATTAACTCATCATTTAGCATTAGGTAGATCTCCTAAAGCTATCCCTCCCCTCTCCTCCCACCCCACAACAGTCCCCAGAGTGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCATTTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCAATAGTTTACTGAGAATGATGATTTCCAACTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGCTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCACAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGTGACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAATTCATGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGGTGAGCATTTTTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCAGGACAAATTATTTTAAATGTATCTGGGACTAATGAAGAAATAGAAGGCCTAACCAAATGTAAACAGCTTTTTTTTAGATGAACTTAAGCAAAGTAAATCTTTTAGTTGCAGGAAAGGTATTCTTGGATTTGGGTAGCTCATAAAATTTGGCTGCATTGGAACATATTTATATTTATTTGTGGCCAAAATTATTTAAAAGAGCTCTATTTTAGAATTACTGTAAATATTCTTAGAAAGAGAATCATGTCCTCTCATTAGAATACAAGTTCTATGAGGGGTGGGAAATTTCTTTTTTTCTTTTGCTTTGTTTACTGTCCTATCTTAAGCACTTAGAAAATACTTTTCACATATAGTAAGTGCTCAAGAAATATTTGATATTGATATGCAATAACAACTTTTCAGGAGAGGCTGTATCCATTAAGTTCAATGGTATAGTGAACTGAATTTTTCTTTTTTTCTATTAGGACATAAAATATATATCAAATGGCGACATTTGGAACAACAGCTGGTTTCTCTGGAATATTCTCAAACTTCCTGTTCAGACGCTGCTTCAAGGTTAAACATGATGCTTTGAAGACATATGCATCATTGGCTACACTTCCATTTTTGTCTACTGTTGTTACTGACAAGCTTTTTGTAATTGATGCTTTGTATTCAGGTGAATTTAAATTCACTAATGTATAACGTAGTTATGTCTAAGTAAAGTTACTTATTAACATATACTGTTGCTACTGCTAATAATAATTCTTTACATTTATATATTGCTATACAGTTTACAAAGTCCATATACCTTGTCATATTTAATCCCTGCAACAATCCTCCTAATCAGGTAAACTGTATTTTTTTATTTCTGTAGATAAGCAACCCAAACTGAGGCATGTTCAAGTACGCTAATAAGCAACATACTGGGAAAAGAATTGGCTGTGGCATACAACGCACATCATTTCAGTATGCTACCTCCTGCCACTTAAGTTTTGTGACATTCAGTAAGGCATTTCATCTCTGAGCCTCCGTTGTCTTATCTATAAGTTAGGACTAATAGTACTTACCTCACAGGATTGTTGTGAGAATTAAAAGATACTGTAGGTTAAATGACTACCACAATATCTGTCATATTATGGGCTTTTAATGTTATTTCCTGCCCCTCACCTTACCTTGAGTTTCACAACTAGTAATTGATAGAGCATCTATCCCTTGTTCATTCTTCAGGTTCCTGCTTAAGTATCTTTTCCCCAGGGAGACCTCTGATTGCCTCATTGTACACTAGGTGTCTGGATACATTCTCTATATAGTTTATCTTCAAAGTATTGTGTACACTGATAATTATCTATTTAAATATTTATCTCGTGTCTTTCATCTCTGTAAACTGGCCAGAAGGTCAGAGATCAGGTCTCTTTTATGTACCACCGTATTCCTAGCTCCTAGCACGTTCCTGATATATAGTAGATAATAAAAATGTATTAACCTAGAATCCAGGTCTGGTTTGCTAGTTTAGTATTGTCATTATAAAATTGTTTCTGGCTGGGCACGGTGGCTCATGCCTATAATCCCAACACTTTGGGAGGCCAAGACAGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACACAGTCTCTACTAAAAATAGAAAAACAGTTGAGCATGGTGGTGCAAGCTTATAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGTACTCTAGCCTGGGCAACAGAGTGAGACTCCGTCTCCAAAAAATAAAATAAAATTGCTTCTACAACAACCACATACGTTAGAGGTAATTCTCTATGTGATAAAGTATAATAAAAACTTTTTAAAATGTGCTGCATTTGGCCTGTTATATGCCACAGAGTTTGAATTTCTAATATTCTTTCTATGGTTTAGTTGTGGTTGAGGATAGTGCAGATAACTACTCTGTGAGGTACAACACTGTCTTAATAGCTCTTGAGTTTTAAAGGAAAACCAAATTTACTTTTGTTTTCCAGATAATATAAGCAAGGAAAACTGTGTTTTCAGAAGCTCACTGATTGGCATAGTTTGTGGTGTTTTCTATCCCAGTTCTTTGGCTTTTACTAAAAATGGACGCCTGGCAACCAAGTAAGTTCTTCCTTTTCCTTCTTTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTTTAGGTTAATAAACTCTCTTTCTTCTTTAGCTGTCTATGATATATTTGAATCAAAATGTGGTAGTTTGGTATTTCAGATAGCTAACTTTTAACTTTTTTGCTCTCTACATTATAGATCTAGAAAGGCAATTATCAATTTAGGAGAAGTCAACAAACTTCTAATAGCATTCATATCCAGGAGAGGTGATTAACTCTTTTTTCTTTTTAGGTATCATACCGTTCCACTGCCACCAAAAGGAAGGGTTTTAATCCATTGGATGACGCTTTGTCAAACACAAATGAAATTAATGGCGATTCCTC
|
Task1_train_16381
|
This sequence variant lies in EED (embryonic ectoderm development) on Chromosome 11. Is it clinically significant, and what condition might it cause if any?
|
Pathogenic; Cohen-Gibson syndrome
|
AAAAGAAAAGAATCCATTGTGGGATGGATGTGCTGGTTGGGTGCAGATGTCTATAGAGATAGGAGCATTAGAAATCTAGTAATAGAAAATATTAGCAAAGACTGATTAAAACCTCCTTTTTCTTTGACCTTGCCTAGAATATATCATTTCATTGTAGTTATAATGATGAACTTGGCTTGTGACTGGTAGTCATTCTAAGTATTTGATCAACGAAGCCTAGGAAGAAAAAAAAAGTTTAGGAAAAATAAAATATATAAAAATAAAATAAAATAGGAAATAAAAATTGCAAAACAGGTTCATAAAGAAACAGAAAAATTTGAAAAGCCCGAGTTAGAGCGGTAAAAGCTAAGTAATAAGATATTTCTTCCAGATCCATTTGAAAAACCTAGCAAACAAGACAAGGCAAGGACATTCAGTCTTCTCTAAAAGATATTGAAATGTGACCTGTTGTTGTATTGAGACTGTCTCACAAAGAAAAAAGTGGAAAACTGAATTGTTCTTTTTTAGATATTTATAGAGGTATGGGGATAGAGCAGAGGTTAAACTACAGCGTGCAGGTTGGTCACCTGTTTTTGTAAAGTTTTGTTTTGAACACAACCATGCCCATTCATTTGTATATTTTCTGCAGTTATTTTGGTACTGCAACTACAGAGTTGAGTAGTTGTACAAGCAGCTAAAGAGTAAACAAAATTGAGTGGAGAGACTGTAATTTTGTTTGATCATTTGTTATGGATTTTAGACCTCAAATCACCATTGTATATATTTGGTTGTATAAGGAAAATTGAGAACTTTGGTGTCAAAAACTTTAGCAGTTCTTTATAAGTTTCTATTATAATTATTGACATGTTTCTTTTTCAAAAACATTATGTTTCTTAACTGTGGAATTTCTTAGGCTGATGAAAACTTTTACACTTGTGCATGGACCTATGATAGCAATACGAGCCATCCTCTGCTGGCTGTAGCTGGATCTAGAGGCATAATTAGGATAATAAATCCTATAACAATGCAGTGTATAAAGGTGGGTTTTTCTGGTTAAATTGTAGATCTGCTTCTTTTGAATCCACAACTGTAAAAACTTGTAATGTTAAATTTAAAACTAATGGTATGAATGTAACATTTCTCATTTGATTTGTACTTTTCTTACTGCTCTCTTTGGATGAGTCTTTTGAGACGTTTGTCACATTTGGGTAATGTAAATTAAGGAATAAGTGGGAAAATGTTAATATTTGTAGTGCTTTCTTTTTAAATCATTTCCCTCTTTCACCCTTGTCATGGTTTACTTTGAGAGGCTCTAAATGAACAATAAGAGGGAGTCCATTTTCCAAGACACCTAAACTGGAGGGGTGTTATCAAAGGGACCTTGTAACGAACATAAAGGTGAAGCCTAGGAAGTTGATAAGAAGACGGGTTTTTCAAATCACTTTCATCACCTGTTTTTAACTGTTGGGCTACATCACACTCTCCTGAGGATGCTTAAAACCCTACGCATATTGGAGCCTCCGCTAATCCGATCAGAATATCTGCAGGTGGAGTTTTGAGCATCTTTTTTTTTTTTTGTTCTGAGACAGATTCTGACTCCTTTGCCCGGGCTGGAATGTAGTAGCATGATTATAGCTCACTGCAGCCCGTCTCCTGGGCTCAAGCGATCCTCCTGCCTCAGCCTCTCAAGTAGCTGGGGCCAATTTTTAATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGAAGATAGGGTCTTGCTGCATTGCTCTGACTGGTCTTGAACTCCTGACCTCAAGCGATTCTGCCTTAGCTTTCCAAAGTGCTTGGATTAAAAACATGAGCCACCCACTGTGCCTGGGGTCTTTTTTTTTTTTTTTTTTCCTTTTCACCTCAAGTTTGTTGGGTGATTTTAGTATGCAGCCAAGGTTGAGAACCACTACTTTAAGTGAAACTATTTTTACATTCTCTAAAGATTTATGAAAAAAAATTTACTGATTTTGAGATAGGAAACTTGAAATGTTTTAAATTTATTGTAGCACTATGTTGGCCATGGAAATGCTATCAATGAGCTGAAATTCCATCCAAGAGATCCAAATCTTCTCCTGTCAGTAAGTAAAGGTAAGTGAAGCAAATGTTTCTTGAGTCTGTGCAATTTGTCAGAATTAAGATGGAGTCACTAATGTCAAGAAAACCCTGACAAATAGGAAAAACCATGAGAAGAGAGTCCACATGCTTGTATGTCTGATAATAAAAACTCACAAAAAAACACAACCACAACCTTGCACAAAGGCCATCACAGCCTTACACAGAAAATACTGGCAGTAAGTGCCTCTCCATCCTGAGACTGGCATCACCCTTGTTACTGATTTTGTGGCCAATCTTATTTCAAAACAATTATGTAATCCTTCTCATTTTTTTCTTTAAAAACCTCTGTCTTTCCTTTACGTCTCGGAGAACACACATAGTTTACTTTGGCATGTACATTCTCATTGCAGTGCATTATTTCCATATAAACATCTTTTATTTTAGAGAGCCTCTCTGTTACTTAGGTTGACAGGTCCTGTTTTATTTTAAGTCTAGTATCTGTTAGTTATTTTTCCTGATCTTCTTACTCCTCCCACCCTCTACCCTCCAGTAGGCCCCAGTGTATGGACAGATAGTGTTCTAAGGAAATAAAGCCAAATTAAAAAAAAGGTTATAACAGTACATTTTAGTAGGAAAATCCCAGGCTATGTTAGCATATCCAAATCATTTTGTCCAATCATGTAATAATAAATACTACATATGAAAATTCATATTGCTTTTTTATTTTTTAAAAAAGCTTTTGTTTTATAAAGGATTTCCTATAGAATTTCTTAAAAATGCTACGTTTTTCAGGATAAGTTATTTGAAATATTCCCATAAAGGGAAAGCATTGCATTTTGGAAATCACTACCTCTAGGAAGAGTTGATTACTTTTTCTTGTCTCTTGATAACACTAATTGGGGCTCAGATATTTCTGAACAACTGTATAGACCGTAATGCCTCACTTGTTCTAAATATTACAACTTTTTTTTTCTCTTTTCTTTGTTTTTTGGTTTTTTTTTTTTTTTTTGAGACAAAGTTTCGCTCTTGTTGCGGAGGCTGGAGCGCAATGGTGCAATCTCGGCTGACTGCAACCTCTGCCTCCCGGGTTTAAGAGATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGATTACAGGCATGTACCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGATACGGTTTCTCCACATGGGTCAGGCTGGTCTTGAACTCCTGACCTCAGTTGATCCGCCTGTCTCAGCCTCCTAAAGTGCTGAGATTACAGGTGTGAGCCACTGCGTCCTGCCTCTATTTATTTATTTATTTATTTATTTTTGAGACAGAGTCTTGCTTTGGCGCCCAGGCTGGAGTGCAATGGCTCTATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAGGTGATTCTCCTGCCTGACCCTCCCGAGTAGCTGGGATTACAGGCGCCCTCCACCATGCCTGGCTAATTTTTTTTATTTTTAGTAGAGATGAGGTTTCTCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGGTCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCGCACAGCCCAACATCACAACTTTTAACCCTGGTCTTCCTCTATTGTGTCAGTAAGAGCATTTTTAAAAATCAGAAGTTTGAGCATGAATAAGAATTTTGCTCCAAGTGATACTATCAAGAAAGTAAAAAAGCCTACTCAAAAGGAGAAAAAATATTTATAAATCATTCTGATAAAGGACTTTGATTTTTATTTTTTGTTTTTGGAGACAGGGTCTTGCCCAGTCACCCAGGTTGAGTGCAGTGGTGTGATCATGGCTCACTGTAGCCTCAACCTACCAAGTAGTTAGGACTACAGGCACGTGCCGCCATACCTGGCTAATTTTGTAAAAAATGTTTTTGTAGAGATGAGGTCTCCCTGTGTTACCTAGACTGGTCCTCAAACTCCTGGCCTCAAGCAGTCCTCCTACCTTGGCCTCCTAAACTGCTGGGAT
|
AAAAGAAAAGAATCCATTGTGGGATGGATGTGCTGGTTGGGTGCAGATGTCTATAGAGATAGGAGCATTAGAAATCTAGTAATAGAAAATATTAGCAAAGACTGATTAAAACCTCCTTTTTCTTTGACCTTGCCTAGAATATATCATTTCATTGTAGTTATAATGATGAACTTGGCTTGTGACTGGTAGTCATTCTAAGTATTTGATCAACGAAGCCTAGGAAGAAAAAAAAAGTTTAGGAAAAATAAAATATATAAAAATAAAATAAAATAGGAAATAAAAATTGCAAAACAGGTTCATAAAGAAACAGAAAAATTTGAAAAGCCCGAGTTAGAGCGGTAAAAGCTAAGTAATAAGATATTTCTTCCAGATCCATTTGAAAAACCTAGCAAACAAGACAAGGCAAGGACATTCAGTCTTCTCTAAAAGATATTGAAATGTGACCTGTTGTTGTATTGAGACTGTCTCACAAAGAAAAAAGTGGAAAACTGAATTGTTCTTTTTTAGATATTTATAGAGGTATGGGGATAGAGCAGAGGTTAAACTACAGCGTGCAGGTTGGTCACCTGTTTTTGTAAAGTTTTGTTTTGAACACAACCATGCCCATTCATTTGTATATTTTCTGCAGTTATTTTGGTACTGCAACTACAGAGTTGAGTAGTTGTACAAGCAGCTAAAGAGTAAACAAAATTGAGTGGAGAGACTGTAATTTTGTTTGATCATTTGTTATGGATTTTAGACCTCAAATCACCATTGTATATATTTGGTTGTATAAGGAAAATTGAGAACTTTGGTGTCAAAAACTTTAGCAGTTCTTTATAAGTTTCTATTATAATTATTGACATGTTTCTTTTTCAAAAACATTATGTTTCTTAACTGTGGAATTTCTTAGGCTGATGAAAACTTTTACACTTGTGCATGGACCTATGATAGCAATACGAGCCATCCTCTGCTGGCTGTAGCTGGATCTAGAGGCATAATTAGGATAATAAATCCTATAACAATGCAGTGTATAAAGGTGGGTTTTTCTGGTTAAATTGTAGATCTGCTTCTTTTGAATCCACAACTGTAAAAACTTGTAATGTTAAATTTAAAACTAATGGTATGAATGTAACATTTCTCATTTGATTTGTACTTTTCTTACTGCTCTCTTTGGATGAGTCTTTTGAGACGTTTGTCACATTTGGGTAATGTAAATTAAGGAATAAGTGGGAAAATGTTAATATTTGTAGTGCTTTCTTTTTAAATCATTTCCCTCTTTCACCCTTGTCATGGTTTACTTTGAGAGGCTCTAAATGAACAATAAGAGGGAGTCCATTTTCCAAGACACCTAAACTGGAGGGGTGTTATCAAAGGGACCTTGTAACGAACATAAAGGTGAAGCCTAGGAAGTTGATAAGAAGACGGGTTTTTCAAATCACTTTCATCACCTGTTTTTAACTGTTGGGCTACATCACACTCTCCTGAGGATGCTTAAAACCCTACGCATATTGGAGCCTCCGCTAATCCGATCAGAATATCTGCAGGTGGAGTTTTGAGCATCTTTTTTTTTTTTTGTTCTGAGACAGATTCTGACTCCTTTGCCCGGGCTGGAATGTAGTAGCATGATTATAGCTCACTGCAGCCCGTCTCCTGGGCTCAAGCGATCCTCCTGCCTCAGCCTCTCAAGTAGCTGGGGCCAATTTTTAATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGAAGATAGGGTCTTGCTGCATTGCTCTGACTGGTCTTGAACTCCTGACCTCAAGCGATTCTGCCTTAGCTTTCCAAAGTGCTTGGATTAAAAACATGAGCCACCCACTGTGCCTGGGGTCTTTTTTTTTTTTTTTTTTCCTTTTCACCTCAAGTTTGTTGGGTGATTTTAGTATGCAGCCAAGGTTGAGAACCACTACTTTAAGTGAAACTATTTTTACATTCTCTAAAGATTTATGAAAAAAAATTTACTGATTTTGAGATAGGAAACTTGAAATGTTTTAAATTTATTGTAGCACTATGTTGGCCATGGAAATGCTATCAGTGAGCTGAAATTCCATCCAAGAGATCCAAATCTTCTCCTGTCAGTAAGTAAAGGTAAGTGAAGCAAATGTTTCTTGAGTCTGTGCAATTTGTCAGAATTAAGATGGAGTCACTAATGTCAAGAAAACCCTGACAAATAGGAAAAACCATGAGAAGAGAGTCCACATGCTTGTATGTCTGATAATAAAAACTCACAAAAAAACACAACCACAACCTTGCACAAAGGCCATCACAGCCTTACACAGAAAATACTGGCAGTAAGTGCCTCTCCATCCTGAGACTGGCATCACCCTTGTTACTGATTTTGTGGCCAATCTTATTTCAAAACAATTATGTAATCCTTCTCATTTTTTTCTTTAAAAACCTCTGTCTTTCCTTTACGTCTCGGAGAACACACATAGTTTACTTTGGCATGTACATTCTCATTGCAGTGCATTATTTCCATATAAACATCTTTTATTTTAGAGAGCCTCTCTGTTACTTAGGTTGACAGGTCCTGTTTTATTTTAAGTCTAGTATCTGTTAGTTATTTTTCCTGATCTTCTTACTCCTCCCACCCTCTACCCTCCAGTAGGCCCCAGTGTATGGACAGATAGTGTTCTAAGGAAATAAAGCCAAATTAAAAAAAAGGTTATAACAGTACATTTTAGTAGGAAAATCCCAGGCTATGTTAGCATATCCAAATCATTTTGTCCAATCATGTAATAATAAATACTACATATGAAAATTCATATTGCTTTTTTATTTTTTAAAAAAGCTTTTGTTTTATAAAGGATTTCCTATAGAATTTCTTAAAAATGCTACGTTTTTCAGGATAAGTTATTTGAAATATTCCCATAAAGGGAAAGCATTGCATTTTGGAAATCACTACCTCTAGGAAGAGTTGATTACTTTTTCTTGTCTCTTGATAACACTAATTGGGGCTCAGATATTTCTGAACAACTGTATAGACCGTAATGCCTCACTTGTTCTAAATATTACAACTTTTTTTTTCTCTTTTCTTTGTTTTTTGGTTTTTTTTTTTTTTTTTGAGACAAAGTTTCGCTCTTGTTGCGGAGGCTGGAGCGCAATGGTGCAATCTCGGCTGACTGCAACCTCTGCCTCCCGGGTTTAAGAGATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGATTACAGGCATGTACCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGATACGGTTTCTCCACATGGGTCAGGCTGGTCTTGAACTCCTGACCTCAGTTGATCCGCCTGTCTCAGCCTCCTAAAGTGCTGAGATTACAGGTGTGAGCCACTGCGTCCTGCCTCTATTTATTTATTTATTTATTTATTTTTGAGACAGAGTCTTGCTTTGGCGCCCAGGCTGGAGTGCAATGGCTCTATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAGGTGATTCTCCTGCCTGACCCTCCCGAGTAGCTGGGATTACAGGCGCCCTCCACCATGCCTGGCTAATTTTTTTTATTTTTAGTAGAGATGAGGTTTCTCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGGTCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCGCACAGCCCAACATCACAACTTTTAACCCTGGTCTTCCTCTATTGTGTCAGTAAGAGCATTTTTAAAAATCAGAAGTTTGAGCATGAATAAGAATTTTGCTCCAAGTGATACTATCAAGAAAGTAAAAAAGCCTACTCAAAAGGAGAAAAAATATTTATAAATCATTCTGATAAAGGACTTTGATTTTTATTTTTTGTTTTTGGAGACAGGGTCTTGCCCAGTCACCCAGGTTGAGTGCAGTGGTGTGATCATGGCTCACTGTAGCCTCAACCTACCAAGTAGTTAGGACTACAGGCACGTGCCGCCATACCTGGCTAATTTTGTAAAAAATGTTTTTGTAGAGATGAGGTCTCCCTGTGTTACCTAGACTGGTCCTCAAACTCCTGGCCTCAAGCAGTCCTCCTACCTTGGCCTCCTAAACTGCTGGGAT
|
Task1_train_16382
|
Gene EED (embryonic ectoderm development) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign?
|
Pathogenic; Cohen-Gibson syndrome
|
TTACATGGCCAGGCTGAGAGTTTATAAATGTTTCTGTTTTGCTTTCCTTTTTAATTACAAATTTCACCTTTAGATCATTTCTCATTTTATGATAAGCAGCCAGAAGAAGCCATGCATCACTGTGAATGCTTTGATGCTCAGATATTTCTTCTGCCAGGTATTGGATTCATTGCTCTTAACTTCTGCCTTCCACAAAGTCCTAGGGCATGGACACAGTCCTGCTAAGTTCTTCACAACTGTATTGCAAGGATGGCTTTTATTTATTTATTTAATTTATTTTTTTGAGGCAAGGTCTCATTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAACCTCTGCTCCCTCACACCCTCTCCTTCCCTTTTGCTGTGAGACGATTCAGCATGAAGGCCCTCACCGGATGCCGGCACCATGCCAGTGATCCTTCCACTTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACACCCCGCTAGTTTTTGTATTTTTTGTAGAGATGGAGTTTCACCATGTTGCCCAGGCTAGTCTCGAATTCCTGAGCTCAAGTGTCCACCCACCTCAGCCTCCCATGCTGCTGGAATTACAGGCATGAGCTACCACACCTGGCCTGGCTTTTTTTTTTTTTCTTTTAAAGACAGGGTTGGTCTCTGTCACCCAGGCAGTGCAGTGGCATGATCATAGCTCACTGCAGCCCAAAACTCCTAGGCTCAATTGATCCTCTTGCCTCAGTCCCCTAAGTAGCTAGAACTGCAGGTACACGCCACCACACCTGGCTAATTTATTTTCTGTAGGGATTGGGTCTCACTATGTTACCCCGGCTGGTCTTGAATTCCTGGCCTCAAGTGATCCTCCTGCCTCAATCTCAAAGTGCTGGGATTACAGGCATGAACCATCACACCCTGCCAACAGGGATAGCTCTTACTCCATTTTCCAATAACTTCTCATTTCTGTCTGAGACCTCACTGAATGAGACCAACCTCATTCTGTCTGAGACCAACATTGTTCTACCAACATTCTGATCACAACCACTTAAGTAATCCTTAAGAAGATAAAGGCTCTGCCTGAAGCTCTTGTCTTCTTTTCAGCCCTCACTGGAATTACCCTCAATGCTCCACTCACACCAATATAGGCTTTTTCTAGCCTGCTCCTCCAGATTCTTCCAGCCTCTCCTCGTTACCCAGTTCCAAAGTCATTTCCACATTTTCAGGTATTTATAGCAATAGTCCCGTTTCTGAGTACCAACATTCTGTCTGAGTCCATTTTGTGCTGCTATAACACAATACCACAGACTAGGTGACTGACTGATGGATTAATTAATTTCTTTTCTATTGCTCAGGCTTCACTAATTTTTAAATTTTTTGTTGAGACAGGGTCTTGCTATATTGCTAGGGCTAGTCTCAAACTCCTGGGCTTAAGCAGTCCTCCCATCTTGGCCTTCTGAAGTGCTGGGGTTACAAGCATGAGCCACCGTACCTGACTGGGTGATTTATAATGAACAAAAATTTATTTGGCTCCTGTTTCTGGAGACTGGGAAGTCCAAGAACATGGTGCCGGCATCTGGTGAGAGCCTTCATGCTGAATCGTCTCAGCAAAAGGGCAGGAGAGGGTGTGAGGGAGCAAGAGATTGAATTTATAGCCTCAGGCCCTTTTATAATCAGTATTAATCCATTTGTGAGGATGGAGCCCCCATGACCTAAATACCTCCCATTAGGCCCCAGCTCACACCACTATTGCATTGGGGATTGAGTTTCTAGCACATGCTTTTGGGGGGGCCTATTCAAACTATAGCACTTACCTAGCTAATTCTACATCTGATGTAAACATTTTAAGTTGCTATGTAATATGGATTCCATTTTTAGGCTTTACTGTGCATAACTTACATCTAGACTTTAGTAGTTTTTCTTTCACAAGATGTTGAAAGTTCACAGTAAATAAAAAACATTCGCCTAATTTTTGTATGTTTATACTAGATCATGCTTTACGATTATGGAATATCCAGACGGACACTCTGGTGGCAATATTTGGAGGCGTAGAAGGGCACAGAGATGAAGTTCTAAGTGCTGTAAGTTGGAAACTGCAGGGCAATGACTTTCAGGTTTACATAGCTGTGAACAGTCTCCATGGAACTGTTTCCTTATAAGAAAGTGTGTTTCATGTAGCCTGTCAGGCAGACATTCACTTACATTTGACATAGAAGATTTTAATCTCCAGATGAAGGAATAAAACAAGTAAAGACTATATTTATTTATTTATTTTTTAAATTACTTGCACTGTATACCAATCCCTGGAGTCTTATGAGAGCAGTATGATCTTGCTCCTTTCCTTTTAATCTAAAATCACTAAGTTAATGTTTGTTTTGCCATTTCGCAGTTATTAAAGAAAAAAATTAAACTATGTAGCCATTAAAGTGCTTTTCCATCTTTTGTTTGAAGTTGAAACATAACGTTTTTTGCTATTTGGAAGTGTTTTATTGTGCTCACACTGTTTTAGGTAACTTATTTCTAGCCATTCTCTTTGGGTGGCGTGGTATAATACAAGACCAGTTTAAAGATAAATACCACCTTTATATTGATGTATTGTAATCCATTGGTCCATTATACAAGTGTTTTTAGTTAGGTTTCAGATTTTAACATTATTTTTGCTTATGTTCCATATTTAGCTCATTTGATTCCTGTAGTAATTTCACATCTCTTAGGTTGTTTTCCATTAAACTATGTAAAGGGGCACCATATTTTACAGCATGTAACATTTTAGTTGAAGGTACTAAAATATTCCTATGTTGAAGTTTGGATTCCTTTGTGAGAATCATACCTTCCTTCGAATACCTTGTCAACTTGGATTTCCTAAAAGTTGCAGTAGCATTCTACGTCTGGCTTTATGTGTGTAAAAGCCAAGTGAACTGTTCTTTATTAATAACTCCAAATTAGTGGTATTGTCTCGAAGGATGTCTTGTTGCTGTTGACAGTGAGGTAATTAGAAGTACCACAACTGTGAATTCAATAAACATCAAGCCTAAAGTTCTTAGGCTCTTATAAAATGGTGCTCATAATTAATGCAAAGGCTGGATTAACATATAGTATCTAGGTTAGTAAGGAAAATATACTCCTTCAATAGAACTCTCTACTGTTATTTCTTAGAATGAGAGCAGGAGACAGTATGTAGCTCTTCTGTGTAATACAGGAGTTCACTGGAGGTGGATAGGTGTGTGAGATTTTCATTACTCATTATGTGCCTTTTGCTAAATTAAATAGCATCTCTGGGCCTTAGTGTCTGCCTATGAAATGAGGTTGTTACAATAGATGATCTGTTACATGCCTGTTAAAAATTAGTAAACAGCAAATGAAAAAAGTTAAAATCTGTTTTTTATTAGACTTTTAAAAATTCACTTAAAAGTGAACTCTAAAACTAACTTCAAAATATTTTGACTTAGAATTATAAAGTAAGATGTCAGCTCTTTAAGGATTCATGTATTTTCACATGCACATGTCAGTTTCATTGGTTGGTTGAGGTTGGATAGGAAAAGTAATATCACTATTCAGCTCTTTGTGTCAGAATAATTATTTTAACTTAGTATTCAATTTACCTTCAAAATAAGCAAAATAAATATTTTAGTGTAATTGAATAGATAAAACTAAGTTTAAGTAATTTTTTCTTGGTTTATACATTGTAAATGCTCTTATATTCCGATGTTGACAAACTAATTAAAGCTGTAAATCTTGAAAGTAGTAAACTCTGATTTATGGCCTATTTAGATGAAACCCAAAATGTAGTTTGTATTGTGATTTGAAATACAGTTTTCACTATGTTGCACATTAGGCAAAAATTGGATAAATATAATTTGGAGCTGTAATTTATATAAAACTTTTTGGTTTTGCATACAGGATTATGATCTTTTGGGTGAAAAAATAATGTCCTGTGGTATGGATCATTCTCTTAAACTTTGGAGGATCAATTCAAAGAGAATGATGAATGCAATTAAGGAATCTTATGATTATAATCCAAATAAAACTAACAGGTAACAGTTGTGGTATTTGAAACAATTTGCTATGTTGTGCTATTGAATATAAGTTTTATTTTTTCCCAAAATTGC
|
TTACATGGCCAGGCTGAGAGTTTATAAATGTTTCTGTTTTGCTTTCCTTTTTAATTACAAATTTCACCTTTAGATCATTTCTCATTTTATGATAAGCAGCCAGAAGAAGCCATGCATCACTGTGAATGCTTTGATGCTCAGATATTTCTTCTGCCAGGTATTGGATTCATTGCTCTTAACTTCTGCCTTCCACAAAGTCCTAGGGCATGGACACAGTCCTGCTAAGTTCTTCACAACTGTATTGCAAGGATGGCTTTTATTTATTTATTTAATTTATTTTTTTGAGGCAAGGTCTCATTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAACCTCTGCTCCCTCACACCCTCTCCTTCCCTTTTGCTGTGAGACGATTCAGCATGAAGGCCCTCACCGGATGCCGGCACCATGCCAGTGATCCTTCCACTTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCCACCACACCCCGCTAGTTTTTGTATTTTTTGTAGAGATGGAGTTTCACCATGTTGCCCAGGCTAGTCTCGAATTCCTGAGCTCAAGTGTCCACCCACCTCAGCCTCCCATGCTGCTGGAATTACAGGCATGAGCTACCACACCTGGCCTGGCTTTTTTTTTTTTTCTTTTAAAGACAGGGTTGGTCTCTGTCACCCAGGCAGTGCAGTGGCATGATCATAGCTCACTGCAGCCCAAAACTCCTAGGCTCAATTGATCCTCTTGCCTCAGTCCCCTAAGTAGCTAGAACTGCAGGTACACGCCACCACACCTGGCTAATTTATTTTCTGTAGGGATTGGGTCTCACTATGTTACCCCGGCTGGTCTTGAATTCCTGGCCTCAAGTGATCCTCCTGCCTCAATCTCAAAGTGCTGGGATTACAGGCATGAACCATCACACCCTGCCAACAGGGATAGCTCTTACTCCATTTTCCAATAACTTCTCATTTCTGTCTGAGACCTCACTGAATGAGACCAACCTCATTCTGTCTGAGACCAACATTGTTCTACCAACATTCTGATCACAACCACTTAAGTAATCCTTAAGAAGATAAAGGCTCTGCCTGAAGCTCTTGTCTTCTTTTCAGCCCTCACTGGAATTACCCTCAATGCTCCACTCACACCAATATAGGCTTTTTCTAGCCTGCTCCTCCAGATTCTTCCAGCCTCTCCTCGTTACCCAGTTCCAAAGTCATTTCCACATTTTCAGGTATTTATAGCAATAGTCCCGTTTCTGAGTACCAACATTCTGTCTGAGTCCATTTTGTGCTGCTATAACACAATACCACAGACTAGGTGACTGACTGATGGATTAATTAATTTCTTTTCTATTGCTCAGGCTTCACTAATTTTTAAATTTTTTGTTGAGACAGGGTCTTGCTATATTGCTAGGGCTAGTCTCAAACTCCTGGGCTTAAGCAGTCCTCCCATCTTGGCCTTCTGAAGTGCTGGGGTTACAAGCATGAGCCACCGTACCTGACTGGGTGATTTATAATGAACAAAAATTTATTTGGCTCCTGTTTCTGGAGACTGGGAAGTCCAAGAACATGGTGCCGGCATCTGGTGAGAGCCTTCATGCTGAATCGTCTCAGCAAAAGGGCAGGAGAGGGTGTGAGGGAGCAAGAGATTGAATTTATAGCCTCAGGCCCTTTTATAATCAGTATTAATCCATTTGTGAGGATGGAGCCCCCATGACCTAAATACCTCCCATTAGGCCCCAGCTCACACCACTATTGCATTGGGGATTGAGTTTCTAGCACATGCTTTTGGGGGGGCCTATTCAAACTATAGCACTTACCTAGCTAATTCTACATCTGATGTAAACATTTTAAGTTGCTATGTAATATGGATTCCATTTTTAGGCTTTACTGTGCATAACTTACATCTAGACTTTAGTAGTTTTTCTTTCACAAGATGTTGAAAGTTCACAGTAAATAAAAAACATTCGCCTAATTTTTGTATGTTTATACTAGATCATGCTTTACGATTATGGAATATCCAGACGGACACTCTGGTGGCAATATTTGGAGGCGTAGAAGGGCACACAGATGAAGTTCTAAGTGCTGTAAGTTGGAAACTGCAGGGCAATGACTTTCAGGTTTACATAGCTGTGAACAGTCTCCATGGAACTGTTTCCTTATAAGAAAGTGTGTTTCATGTAGCCTGTCAGGCAGACATTCACTTACATTTGACATAGAAGATTTTAATCTCCAGATGAAGGAATAAAACAAGTAAAGACTATATTTATTTATTTATTTTTTAAATTACTTGCACTGTATACCAATCCCTGGAGTCTTATGAGAGCAGTATGATCTTGCTCCTTTCCTTTTAATCTAAAATCACTAAGTTAATGTTTGTTTTGCCATTTCGCAGTTATTAAAGAAAAAAATTAAACTATGTAGCCATTAAAGTGCTTTTCCATCTTTTGTTTGAAGTTGAAACATAACGTTTTTTGCTATTTGGAAGTGTTTTATTGTGCTCACACTGTTTTAGGTAACTTATTTCTAGCCATTCTCTTTGGGTGGCGTGGTATAATACAAGACCAGTTTAAAGATAAATACCACCTTTATATTGATGTATTGTAATCCATTGGTCCATTATACAAGTGTTTTTAGTTAGGTTTCAGATTTTAACATTATTTTTGCTTATGTTCCATATTTAGCTCATTTGATTCCTGTAGTAATTTCACATCTCTTAGGTTGTTTTCCATTAAACTATGTAAAGGGGCACCATATTTTACAGCATGTAACATTTTAGTTGAAGGTACTAAAATATTCCTATGTTGAAGTTTGGATTCCTTTGTGAGAATCATACCTTCCTTCGAATACCTTGTCAACTTGGATTTCCTAAAAGTTGCAGTAGCATTCTACGTCTGGCTTTATGTGTGTAAAAGCCAAGTGAACTGTTCTTTATTAATAACTCCAAATTAGTGGTATTGTCTCGAAGGATGTCTTGTTGCTGTTGACAGTGAGGTAATTAGAAGTACCACAACTGTGAATTCAATAAACATCAAGCCTAAAGTTCTTAGGCTCTTATAAAATGGTGCTCATAATTAATGCAAAGGCTGGATTAACATATAGTATCTAGGTTAGTAAGGAAAATATACTCCTTCAATAGAACTCTCTACTGTTATTTCTTAGAATGAGAGCAGGAGACAGTATGTAGCTCTTCTGTGTAATACAGGAGTTCACTGGAGGTGGATAGGTGTGTGAGATTTTCATTACTCATTATGTGCCTTTTGCTAAATTAAATAGCATCTCTGGGCCTTAGTGTCTGCCTATGAAATGAGGTTGTTACAATAGATGATCTGTTACATGCCTGTTAAAAATTAGTAAACAGCAAATGAAAAAAGTTAAAATCTGTTTTTTATTAGACTTTTAAAAATTCACTTAAAAGTGAACTCTAAAACTAACTTCAAAATATTTTGACTTAGAATTATAAAGTAAGATGTCAGCTCTTTAAGGATTCATGTATTTTCACATGCACATGTCAGTTTCATTGGTTGGTTGAGGTTGGATAGGAAAAGTAATATCACTATTCAGCTCTTTGTGTCAGAATAATTATTTTAACTTAGTATTCAATTTACCTTCAAAATAAGCAAAATAAATATTTTAGTGTAATTGAATAGATAAAACTAAGTTTAAGTAATTTTTTCTTGGTTTATACATTGTAAATGCTCTTATATTCCGATGTTGACAAACTAATTAAAGCTGTAAATCTTGAAAGTAGTAAACTCTGATTTATGGCCTATTTAGATGAAACCCAAAATGTAGTTTGTATTGTGATTTGAAATACAGTTTTCACTATGTTGCACATTAGGCAAAAATTGGATAAATATAATTTGGAGCTGTAATTTATATAAAACTTTTTGGTTTTGCATACAGGATTATGATCTTTTGGGTGAAAAAATAATGTCCTGTGGTATGGATCATTCTCTTAAACTTTGGAGGATCAATTCAAAGAGAATGATGAATGCAATTAAGGAATCTTATGATTATAATCCAAATAAAACTAACAGGTAACAGTTGTGGTATTTGAAACAATTTGCTATGTTGTGCTATTGAATATAAGTTTTATTTTTTCCCAAAATTGC
|
Task1_train_16383
|
This gene mutation involves EED (embryonic ectoderm development) on Chromosome 11. Is it associated with any clinical condition, or is it benign?
|
Pathogenic; Cohen-Gibson syndrome
|
ACATCTAGACTTTAGTAGTTTTTCTTTCACAAGATGTTGAAAGTTCACAGTAAATAAAAAACATTCGCCTAATTTTTGTATGTTTATACTAGATCATGCTTTACGATTATGGAATATCCAGACGGACACTCTGGTGGCAATATTTGGAGGCGTAGAAGGGCACAGAGATGAAGTTCTAAGTGCTGTAAGTTGGAAACTGCAGGGCAATGACTTTCAGGTTTACATAGCTGTGAACAGTCTCCATGGAACTGTTTCCTTATAAGAAAGTGTGTTTCATGTAGCCTGTCAGGCAGACATTCACTTACATTTGACATAGAAGATTTTAATCTCCAGATGAAGGAATAAAACAAGTAAAGACTATATTTATTTATTTATTTTTTAAATTACTTGCACTGTATACCAATCCCTGGAGTCTTATGAGAGCAGTATGATCTTGCTCCTTTCCTTTTAATCTAAAATCACTAAGTTAATGTTTGTTTTGCCATTTCGCAGTTATTAAAGAAAAAAATTAAACTATGTAGCCATTAAAGTGCTTTTCCATCTTTTGTTTGAAGTTGAAACATAACGTTTTTTGCTATTTGGAAGTGTTTTATTGTGCTCACACTGTTTTAGGTAACTTATTTCTAGCCATTCTCTTTGGGTGGCGTGGTATAATACAAGACCAGTTTAAAGATAAATACCACCTTTATATTGATGTATTGTAATCCATTGGTCCATTATACAAGTGTTTTTAGTTAGGTTTCAGATTTTAACATTATTTTTGCTTATGTTCCATATTTAGCTCATTTGATTCCTGTAGTAATTTCACATCTCTTAGGTTGTTTTCCATTAAACTATGTAAAGGGGCACCATATTTTACAGCATGTAACATTTTAGTTGAAGGTACTAAAATATTCCTATGTTGAAGTTTGGATTCCTTTGTGAGAATCATACCTTCCTTCGAATACCTTGTCAACTTGGATTTCCTAAAAGTTGCAGTAGCATTCTACGTCTGGCTTTATGTGTGTAAAAGCCAAGTGAACTGTTCTTTATTAATAACTCCAAATTAGTGGTATTGTCTCGAAGGATGTCTTGTTGCTGTTGACAGTGAGGTAATTAGAAGTACCACAACTGTGAATTCAATAAACATCAAGCCTAAAGTTCTTAGGCTCTTATAAAATGGTGCTCATAATTAATGCAAAGGCTGGATTAACATATAGTATCTAGGTTAGTAAGGAAAATATACTCCTTCAATAGAACTCTCTACTGTTATTTCTTAGAATGAGAGCAGGAGACAGTATGTAGCTCTTCTGTGTAATACAGGAGTTCACTGGAGGTGGATAGGTGTGTGAGATTTTCATTACTCATTATGTGCCTTTTGCTAAATTAAATAGCATCTCTGGGCCTTAGTGTCTGCCTATGAAATGAGGTTGTTACAATAGATGATCTGTTACATGCCTGTTAAAAATTAGTAAACAGCAAATGAAAAAAGTTAAAATCTGTTTTTTATTAGACTTTTAAAAATTCACTTAAAAGTGAACTCTAAAACTAACTTCAAAATATTTTGACTTAGAATTATAAAGTAAGATGTCAGCTCTTTAAGGATTCATGTATTTTCACATGCACATGTCAGTTTCATTGGTTGGTTGAGGTTGGATAGGAAAAGTAATATCACTATTCAGCTCTTTGTGTCAGAATAATTATTTTAACTTAGTATTCAATTTACCTTCAAAATAAGCAAAATAAATATTTTAGTGTAATTGAATAGATAAAACTAAGTTTAAGTAATTTTTTCTTGGTTTATACATTGTAAATGCTCTTATATTCCGATGTTGACAAACTAATTAAAGCTGTAAATCTTGAAAGTAGTAAACTCTGATTTATGGCCTATTTAGATGAAACCCAAAATGTAGTTTGTATTGTGATTTGAAATACAGTTTTCACTATGTTGCACATTAGGCAAAAATTGGATAAATATAATTTGGAGCTGTAATTTATATAAAACTTTTTGGTTTTGCATACAGGATTATGATCTTTTGGGTGAAAAAATAATGTCCTGTGGTATGGATCATTCTCTTAAACTTTGGAGGATCAATTCAAAGAGAATGATGAATGCAATTAAGGAATCTTATGATTATAATCCAAATAAAACTAACAGGTAACAGTTGTGGTATTTGAAACAATTTGCTATGTTGTGCTATTGAATATAAGTTTTATTTTTTCCCAAAATTGCTATATAAGCCCCAACAATGAGTTTAGAAGACCTTCTTTTAACTTTAAGGGACAATTTACATACTGTAAAATTCACCCCTTTAAGAAGTCCTTTATTTGCAGTGTTTGTGGCTTAGTTTTCAAAATCCCCTTTAAATTGTGTTGTCATCTTAACTTAGTAGCACATTTTACTTATTTGTATTTTGGTATGCATATGCTTGGCCTTTTAAGTTATAAATGTAAAAGTTTTAAATCACTTAAGCTTATTATGGACTAGGGAGAGTAAAGGACACTTTAGAATAATGTTAACTTTTTTTAAATGATGCTAATTCTAATTCAAGATGGTAAACCACAGTTTTAAACAATGGAGTTCTTAGCTCTAATTCATGATAATGTTTTTCCCTAAATGATGCTCACTTGATTAAATGGAGAGAATTCAAATGCAGGAGCCTCACTTCATGGTACTATAGGTTGGGGAATTTTGCAGTTTTCTTAGTATATTTTTGAAATGTCTCAATTCTTAATGCAGTAACTGTCTTTAGAATCTTATCAGGCTGTCATTAACACTTTCACTATAAACGTTGTATGTCTGCATGTTAACTTTGTTGGCACTTTTGTTTTAGCAAAGAGCTAGAATTCATTTTCTGGTTATCAAGCCAGATTGTTAATAGATTATTAAATTTGTAAGCATCAGTAAATATTTCAATGCACTAACATTCATCAGACCTAAGTGTCCTCTAAGAATTATTAAAAGTTTTACCTTTCTCCTTTAAAACACCAGGAGCTAGTAGGACAATGTTAAATTTATATTTTTAGATTATTTTCTAGATATCTGGAATAAATACAAACTATATTTCAGAGTTTTCAAAAAATAACAGTTGTACTCGTTTTTTCTTTGAGAGAGGTTTGGCCATACAATTATAGTATGTATTTAGCTAAAAAGCAATTAATATAATTATAGCAGAGTTAAGAATTTATATCAGATCACGAATAACATTTTAATGTTTCAACAAAATATCCCAGAATTTGAATTGGAAGGATTGTTTTGAGTTGCTCCAATCCAAAGTGCTTTTTTACATATCTGAGGGAAAAGGTAAAGAGAGGACATATGAATTGCCTAAGACAACTAATTCATGGCATATTATACTTATACAGCTATTTCTGATTTAAAACTGAGTATATTAGGAATGTTAAGTGTACTGTTAAATAACTCCAGAATTAATAGCAGCTTGTTTTGTTTCTTCTCACAAATATCTCTAATGAAAACAGTGTTGCCATTTAGTTTCCTAAATACAGAAATTATTTGGAAAAGTCCTAGGAAATTTTATTTTGTTCTATTTGTTTTTTTGAGACGGAGTTTTGCTCTTGTTTCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCTGCCTCGCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGATTACAGGCGGCCGCCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGGTGGTCTCGAACTCCTGACCTCAGATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGAGCCACCGCACCCACCCCCACTTAAGAAATTTTAAATTCCTGTAAGGCATCATTTTCAGAAATTATTGCTCAAGGCAGGACTGTAGATGTATCTTTAGCAGACTTTGGAATGATGTTTAGTTGTTCCTGGAAAGATGACTATCTTTTGAAATAGTGTAGATATATTGACTTTCATAGATTATTAATGCTTAATTTTAAGGACTGAGTAGGTAGCTTAGTATATTTTCAGTGAGAAACTGATCAGGCCTTTATTATTGGTTAGGGTACCCAGAATTGAGGTGATTAATTTT
|
ACATCTAGACTTTAGTAGTTTTTCTTTCACAAGATGTTGAAAGTTCACAGTAAATAAAAAACATTCGCCTAATTTTTGTATGTTTATACTAGATCATGCTTTACGATTATGGAATATCCAGACGGACACTCTGGTGGCAATATTTGGAGGCGTAGAAGGGCACAGAGATGAAGTTCTAAGTGCTGTAAGTTGGAAACTGCAGGGCAATGACTTTCAGGTTTACATAGCTGTGAACAGTCTCCATGGAACTGTTTCCTTATAAGAAAGTGTGTTTCATGTAGCCTGTCAGGCAGACATTCACTTACATTTGACATAGAAGATTTTAATCTCCAGATGAAGGAATAAAACAAGTAAAGACTATATTTATTTATTTATTTTTTAAATTACTTGCACTGTATACCAATCCCTGGAGTCTTATGAGAGCAGTATGATCTTGCTCCTTTCCTTTTAATCTAAAATCACTAAGTTAATGTTTGTTTTGCCATTTCGCAGTTATTAAAGAAAAAAATTAAACTATGTAGCCATTAAAGTGCTTTTCCATCTTTTGTTTGAAGTTGAAACATAACGTTTTTTGCTATTTGGAAGTGTTTTATTGTGCTCACACTGTTTTAGGTAACTTATTTCTAGCCATTCTCTTTGGGTGGCGTGGTATAATACAAGACCAGTTTAAAGATAAATACCACCTTTATATTGATGTATTGTAATCCATTGGTCCATTATACAAGTGTTTTTAGTTAGGTTTCAGATTTTAACATTATTTTTGCTTATGTTCCATATTTAGCTCATTTGATTCCTGTAGTAATTTCACATCTCTTAGGTTGTTTTCCATTAAACTATGTAAAGGGGCACCATATTTTACAGCATGTAACATTTTAGTTGAAGGTACTAAAATATTCCTATGTTGAAGTTTGGATTCCTTTGTGAGAATCATACCTTCCTTCGAATACCTTGTCAACTTGGATTTCCTAAAAGTTGCAGTAGCATTCTACGTCTGGCTTTATGTGTGTAAAAGCCAAGTGAACTGTTCTTTATTAATAACTCCAAATTAGTGGTATTGTCTCGAAGGATGTCTTGTTGCTGTTGACAGTGAGGTAATTAGAAGTACCACAACTGTGAATTCAATAAACATCAAGCCTAAAGTTCTTAGGCTCTTATAAAATGGTGCTCATAATTAATGCAAAGGCTGGATTAACATATAGTATCTAGGTTAGTAAGGAAAATATACTCCTTCAATAGAACTCTCTACTGTTATTTCTTAGAATGAGAGCAGGAGACAGTATGTAGCTCTTCTGTGTAATACAGGAGTTCACTGGAGGTGGATAGGTGTGTGAGATTTTCATTACTCATTATGTGCCTTTTGCTAAATTAAATAGCATCTCTGGGCCTTAGTGTCTGCCTATGAAATGAGGTTGTTACAATAGATGATCTGTTACATGCCTGTTAAAAATTAGTAAACAGCAAATGAAAAAAGTTAAAATCTGTTTTTTATTAGACTTTTAAAAATTCACTTAAAAGTGAACTCTAAAACTAACTTCAAAATATTTTGACTTAGAATTATAAAGTAAGATGTCAGCTCTTTAAGGATTCATGTATTTTCACATGCACATGTCAGTTTCATTGGTTGGTTGAGGTTGGATAGGAAAAGTAATATCACTATTCAGCTCTTTGTGTCAGAATAATTATTTTAACTTAGTATTCAATTTACCTTCAAAATAAGCAAAATAAATATTTTAGTGTAATTGAATAGATAAAACTAAGTTTAAGTAATTTTTTCTTGGTTTATACATTGTAAATGCTCTTATATTCCGATGTTGACAAACTAATTAAAGCTGTAAATCTTGAAAGTAGTAAACTCTGATTTATGGCCTATTTAGATGAAACCCAAAATGTAGTTTGTATTGTGATTTGAAATACAGTTTTCACTATGTTGCACATTAGGCAAAAATTGGATAAATATAATTTGGAGCTGTAATTTATATAAAACTTTTTGGTTTTGCATACAGGATTATGATCTTTTGGGTGAAAAAATAATGTCCTGTGGTATGGATTATTCTCTTAAACTTTGGAGGATCAATTCAAAGAGAATGATGAATGCAATTAAGGAATCTTATGATTATAATCCAAATAAAACTAACAGGTAACAGTTGTGGTATTTGAAACAATTTGCTATGTTGTGCTATTGAATATAAGTTTTATTTTTTCCCAAAATTGCTATATAAGCCCCAACAATGAGTTTAGAAGACCTTCTTTTAACTTTAAGGGACAATTTACATACTGTAAAATTCACCCCTTTAAGAAGTCCTTTATTTGCAGTGTTTGTGGCTTAGTTTTCAAAATCCCCTTTAAATTGTGTTGTCATCTTAACTTAGTAGCACATTTTACTTATTTGTATTTTGGTATGCATATGCTTGGCCTTTTAAGTTATAAATGTAAAAGTTTTAAATCACTTAAGCTTATTATGGACTAGGGAGAGTAAAGGACACTTTAGAATAATGTTAACTTTTTTTAAATGATGCTAATTCTAATTCAAGATGGTAAACCACAGTTTTAAACAATGGAGTTCTTAGCTCTAATTCATGATAATGTTTTTCCCTAAATGATGCTCACTTGATTAAATGGAGAGAATTCAAATGCAGGAGCCTCACTTCATGGTACTATAGGTTGGGGAATTTTGCAGTTTTCTTAGTATATTTTTGAAATGTCTCAATTCTTAATGCAGTAACTGTCTTTAGAATCTTATCAGGCTGTCATTAACACTTTCACTATAAACGTTGTATGTCTGCATGTTAACTTTGTTGGCACTTTTGTTTTAGCAAAGAGCTAGAATTCATTTTCTGGTTATCAAGCCAGATTGTTAATAGATTATTAAATTTGTAAGCATCAGTAAATATTTCAATGCACTAACATTCATCAGACCTAAGTGTCCTCTAAGAATTATTAAAAGTTTTACCTTTCTCCTTTAAAACACCAGGAGCTAGTAGGACAATGTTAAATTTATATTTTTAGATTATTTTCTAGATATCTGGAATAAATACAAACTATATTTCAGAGTTTTCAAAAAATAACAGTTGTACTCGTTTTTTCTTTGAGAGAGGTTTGGCCATACAATTATAGTATGTATTTAGCTAAAAAGCAATTAATATAATTATAGCAGAGTTAAGAATTTATATCAGATCACGAATAACATTTTAATGTTTCAACAAAATATCCCAGAATTTGAATTGGAAGGATTGTTTTGAGTTGCTCCAATCCAAAGTGCTTTTTTACATATCTGAGGGAAAAGGTAAAGAGAGGACATATGAATTGCCTAAGACAACTAATTCATGGCATATTATACTTATACAGCTATTTCTGATTTAAAACTGAGTATATTAGGAATGTTAAGTGTACTGTTAAATAACTCCAGAATTAATAGCAGCTTGTTTTGTTTCTTCTCACAAATATCTCTAATGAAAACAGTGTTGCCATTTAGTTTCCTAAATACAGAAATTATTTGGAAAAGTCCTAGGAAATTTTATTTTGTTCTATTTGTTTTTTTGAGACGGAGTTTTGCTCTTGTTTCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCTGCCTCGCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGATTACAGGCGGCCGCCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGGTGGTCTCGAACTCCTGACCTCAGATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGAGCCACCGCACCCACCCCCACTTAAGAAATTTTAAATTCCTGTAAGGCATCATTTTCAGAAATTATTGCTCAAGGCAGGACTGTAGATGTATCTTTAGCAGACTTTGGAATGATGTTTAGTTGTTCCTGGAAAGATGACTATCTTTTGAAATAGTGTAGATATATTGACTTTCATAGATTATTAATGCTTAATTTTAAGGACTGAGTAGGTAGCTTAGTATATTTTCAGTGAGAAACTGATCAGGCCTTTATTATTGGTTAGGGTACCCAGAATTGAGGTGATTAATTTT
|
Task1_train_16384
|
Consider a variant on Chromosome 11 in gene EED (embryonic ectoderm development). Determine its clinical classification and disease relevance.
|
Pathogenic; Cohen-Gibson syndrome
|
GCACATTTTACTTATTTGTATTTTGGTATGCATATGCTTGGCCTTTTAAGTTATAAATGTAAAAGTTTTAAATCACTTAAGCTTATTATGGACTAGGGAGAGTAAAGGACACTTTAGAATAATGTTAACTTTTTTTAAATGATGCTAATTCTAATTCAAGATGGTAAACCACAGTTTTAAACAATGGAGTTCTTAGCTCTAATTCATGATAATGTTTTTCCCTAAATGATGCTCACTTGATTAAATGGAGAGAATTCAAATGCAGGAGCCTCACTTCATGGTACTATAGGTTGGGGAATTTTGCAGTTTTCTTAGTATATTTTTGAAATGTCTCAATTCTTAATGCAGTAACTGTCTTTAGAATCTTATCAGGCTGTCATTAACACTTTCACTATAAACGTTGTATGTCTGCATGTTAACTTTGTTGGCACTTTTGTTTTAGCAAAGAGCTAGAATTCATTTTCTGGTTATCAAGCCAGATTGTTAATAGATTATTAAATTTGTAAGCATCAGTAAATATTTCAATGCACTAACATTCATCAGACCTAAGTGTCCTCTAAGAATTATTAAAAGTTTTACCTTTCTCCTTTAAAACACCAGGAGCTAGTAGGACAATGTTAAATTTATATTTTTAGATTATTTTCTAGATATCTGGAATAAATACAAACTATATTTCAGAGTTTTCAAAAAATAACAGTTGTACTCGTTTTTTCTTTGAGAGAGGTTTGGCCATACAATTATAGTATGTATTTAGCTAAAAAGCAATTAATATAATTATAGCAGAGTTAAGAATTTATATCAGATCACGAATAACATTTTAATGTTTCAACAAAATATCCCAGAATTTGAATTGGAAGGATTGTTTTGAGTTGCTCCAATCCAAAGTGCTTTTTTACATATCTGAGGGAAAAGGTAAAGAGAGGACATATGAATTGCCTAAGACAACTAATTCATGGCATATTATACTTATACAGCTATTTCTGATTTAAAACTGAGTATATTAGGAATGTTAAGTGTACTGTTAAATAACTCCAGAATTAATAGCAGCTTGTTTTGTTTCTTCTCACAAATATCTCTAATGAAAACAGTGTTGCCATTTAGTTTCCTAAATACAGAAATTATTTGGAAAAGTCCTAGGAAATTTTATTTTGTTCTATTTGTTTTTTTGAGACGGAGTTTTGCTCTTGTTTCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCTGCCTCGCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGATTACAGGCGGCCGCCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGGTGGTCTCGAACTCCTGACCTCAGATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGAGCCACCGCACCCACCCCCACTTAAGAAATTTTAAATTCCTGTAAGGCATCATTTTCAGAAATTATTGCTCAAGGCAGGACTGTAGATGTATCTTTAGCAGACTTTGGAATGATGTTTAGTTGTTCCTGGAAAGATGACTATCTTTTGAAATAGTGTAGATATATTGACTTTCATAGATTATTAATGCTTAATTTTAAGGACTGAGTAGGTAGCTTAGTATATTTTCAGTGAGAAACTGATCAGGCCTTTATTATTGGTTAGGGTACCCAGAATTGAGGTGATTAATTTTGGGTTATATATAGTAAAACGCAGGAAACTACAATGTTTATAAACAAAGTATCTATCATAGGACAAAGATAAAATTGGATAATAATGGAGAAAAATAAACAAAAGTGGAATGAGACTTTAGCTTTCAATAAATAGATAAGGTGGTTGGTTATGTAGGAACACAGAGGAATTAATAGTCTTACATTTTGTTTTTCCAAGTTTTATAAATCCAAAAATGAAAAAGAGTATGATTCTACTATAATTTTTTCTTTTAACTTTTTACATTTCCATTCTTCCTTCAGGCCATTTATTTCTCAGAAAATCCATTTTCCTGATTTTTCTACCAGAGACATACATAGGAATTATGTTGATTGTGTGCGATGGTTAGGCGATTTGATACTTTCTAAGGTATGGTAACTGCAGTTAAGCTGTACTTCCATCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGCGCATGTTGGAACTTGGCAGGGAGCACTTTATGTAGTTTATTAAATTGAATGGCAGCTGGGAAGTTGCCTTTTTTAAAGTCTCATATTTTGATATATTTAGAAACTTGTTTTAAGAATAAAACATGCCATTGAATTATAATTCTTTGTGCTCCAGTAAGATGAGTATAGTTTTATAAGGTGATAGTATTCTCTGATAGTCAGTATTGTTACAAGATAACCAGTAACTAAAGCCAACAGAATTGGCTTTTGTTTTTTTGTATCTCTGTGACTATTTTAGTAAAATTTTATTTATAAAAACAGGTGGCTGGAGTTGGCTTATGGGCTGTAGTTTGCCAACCCCTGCCCCTGTTGATGGATTTATACAGATGCTCCTCAACTTATGATGGGATTACATCGTGATAAACCCATCATAAATTGAAAACGCATTTAATACACATAACCTACTGAATATCAGCTTAGCCCAGCCTATCTTAAATGTGCTCAGAATTAGCCTACAGTTGGGCAAAATTATCTAACACAAAGCCTGTTTTATAATAAAGCATTGAATATCTCACATACTGCATACTGCTAGCCCAGGAAAAGATCAAAATTCAAAATTCCAAGTACTTCAAAATTGCAGCTGTTTTGTACCATTTTGGTAAAGTTGAAAAATTGTAAATCAGACCATTGTAAGTCAAGGCCATCTGGGTGTGTGTGTGTGTGTGTTTGTGTGTCTGTGTATTTTTTTGTAGCTGATAATTTAGAGAAGCTATTGGTGATGTTACATGAGCATTTAGGATTATCAAATTTGGTGAAATTGCTGTCCGGTTTCTTTTCTTGATGTGAATTTCAGGCCACTTCACATTTTCTTGGGCAGAGCCTGATTTACTTTTTTCTTGGCTTTATGTGTAAACTGTTTTTTTCTTTTTTCTTTAAACTTTTGACCTTCAAATAACTTGATTCATAGGATGTTTCAAAGATTGTGCAGAGAGGTCCCATATGATCTTTATCCAGAATCCAAAGTTTATATATTATATAACTGTAATACAATATCAAATCCAGAAAATTGACACTGGTACAATGTGTGTGTTTAGTTTTATGTCATTTTATCACGTGAATTTTGTCATTTCAAGAATGGTACAGTTTGGGACCTTTTAAGATTGTTTTTTTCCACTCAAACCCTTGAGATCCATCCAGGTTGTTGCCTGTATCAGTAGTTCTCCTTTTTTATTGCTGAGTAGTATTCCATGGTATGGATTACCATAGTTTATGTAACTATCTATGGTAGGAGGTTTTGGTCATTTCCAGTTCTGGGCTATTGCAAATAAAGCTGCTAATCAGCAGTTGTGTCCAGGTTTTTGTGTGGACTTAAGTTTTCATTTCTCTGGGTAAATGCCTAGGAGGGCAATTGCTGGGTTGTGGTTAAGTTTGTTTAGTTTTTTAAGAAACTGCCAAACTATTTTCCAGAGTGGCCGTGCCATTTTACATTCCCACCAGCAATGTATGAGAGATCCAGTGTCTCCGAATCTTCGCCAGCATTTGGTATTGTCATTATTTTTTATTTTAGCTGTTCTGATAGGTGTGTAGTGATATCTCATCGTGGTCTTAATTTGCATTTCCCTGATGGCTAGTGATGTTGAACATCTTTTTCATGTGCTTATTTACCATTCGTATATCCTTTTTGGTGATGTCTTTTCATATCTTTTGCTCATTTTCTAATTGGATTGGTTTTTTGTTGTGTTTTTTTTTTTTTTTTAACTGTTGAGTTTTGAGAGTTTGAATATATTCTAAATATGAATCCTGTATCAGATACATAGTTTGCAAATATTTTCTTTCAGTCTGTAGCTTGTCATTTCATCCTCTTTAATAGGGTCTTTCACAGAGCAAATGTTTGTAGTTTTTATTAAATCCAGTATATTGATTTTTTAAAA
|
GCACATTTTACTTATTTGTATTTTGGTATGCATATGCTTGGCCTTTTAAGTTATAAATGTAAAAGTTTTAAATCACTTAAGCTTATTATGGACTAGGGAGAGTAAAGGACACTTTAGAATAATGTTAACTTTTTTTAAATGATGCTAATTCTAATTCAAGATGGTAAACCACAGTTTTAAACAATGGAGTTCTTAGCTCTAATTCATGATAATGTTTTTCCCTAAATGATGCTCACTTGATTAAATGGAGAGAATTCAAATGCAGGAGCCTCACTTCATGGTACTATAGGTTGGGGAATTTTGCAGTTTTCTTAGTATATTTTTGAAATGTCTCAATTCTTAATGCAGTAACTGTCTTTAGAATCTTATCAGGCTGTCATTAACACTTTCACTATAAACGTTGTATGTCTGCATGTTAACTTTGTTGGCACTTTTGTTTTAGCAAAGAGCTAGAATTCATTTTCTGGTTATCAAGCCAGATTGTTAATAGATTATTAAATTTGTAAGCATCAGTAAATATTTCAATGCACTAACATTCATCAGACCTAAGTGTCCTCTAAGAATTATTAAAAGTTTTACCTTTCTCCTTTAAAACACCAGGAGCTAGTAGGACAATGTTAAATTTATATTTTTAGATTATTTTCTAGATATCTGGAATAAATACAAACTATATTTCAGAGTTTTCAAAAAATAACAGTTGTACTCGTTTTTTCTTTGAGAGAGGTTTGGCCATACAATTATAGTATGTATTTAGCTAAAAAGCAATTAATATAATTATAGCAGAGTTAAGAATTTATATCAGATCACGAATAACATTTTAATGTTTCAACAAAATATCCCAGAATTTGAATTGGAAGGATTGTTTTGAGTTGCTCCAATCCAAAGTGCTTTTTTACATATCTGAGGGAAAAGGTAAAGAGAGGACATATGAATTGCCTAAGACAACTAATTCATGGCATATTATACTTATACAGCTATTTCTGATTTAAAACTGAGTATATTAGGAATGTTAAGTGTACTGTTAAATAACTCCAGAATTAATAGCAGCTTGTTTTGTTTCTTCTCACAAATATCTCTAATGAAAACAGTGTTGCCATTTAGTTTCCTAAATACAGAAATTATTTGGAAAAGTCCTAGGAAATTTTATTTTGTTCTATTTGTTTTTTTGAGACGGAGTTTTGCTCTTGTTTCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCTGCCTCGCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGATTACAGGCGGCCGCCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGGTGGTCTCGAACTCCTGACCTCAGATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGAGCCACCGCACCCACCCCCACTTAAGAAATTTTAAATTCCTGTAAGGCATCATTTTCAGAAATTATTGCTCAAGGCAGGACTGTAGATGTATCTTTAGCAGACTTTGGAATGATGTTTAGTTGTTCCTGGAAAGATGACTATCTTTTGAAATAGTGTAGATATATTGACTTTCATAGATTATTAATGCTTAATTTTAAGGACTGAGTAGGTAGCTTAGTATATTTTCAGTGAGAAACTGATCAGGCCTTTATTATTGGTTAGGGTACCCAGAATTGAGGTGATTAATTTTGGGTTATATATAGTAAAACGCAGGAAACTACAATGTTTATAAACAAAGTATCTATCATAGGACAAAGATAAAATTGGATAATAATGGAGAAAAATAAACAAAAGTGGAATGAGACTTTAGCTTTCAATAAATAGATAAGGTGGTTGGTTATGTAGGAACACAGAGGAATTAATAGTCTTACATTTTGTTTTTCCAAGTTTTATAAATCCAAAAATGAAAAAGAGTATGATTCTACTATAATTTTTTCTTTTAACTTTTTACATTTCCATTCTTCCTTCAGGCCATTTATTTCTCAGAAAATCCATTTTCCTGATTTTTCTACCGGAGACATACATAGGAATTATGTTGATTGTGTGCGATGGTTAGGCGATTTGATACTTTCTAAGGTATGGTAACTGCAGTTAAGCTGTACTTCCATCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGCGCATGTTGGAACTTGGCAGGGAGCACTTTATGTAGTTTATTAAATTGAATGGCAGCTGGGAAGTTGCCTTTTTTAAAGTCTCATATTTTGATATATTTAGAAACTTGTTTTAAGAATAAAACATGCCATTGAATTATAATTCTTTGTGCTCCAGTAAGATGAGTATAGTTTTATAAGGTGATAGTATTCTCTGATAGTCAGTATTGTTACAAGATAACCAGTAACTAAAGCCAACAGAATTGGCTTTTGTTTTTTTGTATCTCTGTGACTATTTTAGTAAAATTTTATTTATAAAAACAGGTGGCTGGAGTTGGCTTATGGGCTGTAGTTTGCCAACCCCTGCCCCTGTTGATGGATTTATACAGATGCTCCTCAACTTATGATGGGATTACATCGTGATAAACCCATCATAAATTGAAAACGCATTTAATACACATAACCTACTGAATATCAGCTTAGCCCAGCCTATCTTAAATGTGCTCAGAATTAGCCTACAGTTGGGCAAAATTATCTAACACAAAGCCTGTTTTATAATAAAGCATTGAATATCTCACATACTGCATACTGCTAGCCCAGGAAAAGATCAAAATTCAAAATTCCAAGTACTTCAAAATTGCAGCTGTTTTGTACCATTTTGGTAAAGTTGAAAAATTGTAAATCAGACCATTGTAAGTCAAGGCCATCTGGGTGTGTGTGTGTGTGTGTTTGTGTGTCTGTGTATTTTTTTGTAGCTGATAATTTAGAGAAGCTATTGGTGATGTTACATGAGCATTTAGGATTATCAAATTTGGTGAAATTGCTGTCCGGTTTCTTTTCTTGATGTGAATTTCAGGCCACTTCACATTTTCTTGGGCAGAGCCTGATTTACTTTTTTCTTGGCTTTATGTGTAAACTGTTTTTTTCTTTTTTCTTTAAACTTTTGACCTTCAAATAACTTGATTCATAGGATGTTTCAAAGATTGTGCAGAGAGGTCCCATATGATCTTTATCCAGAATCCAAAGTTTATATATTATATAACTGTAATACAATATCAAATCCAGAAAATTGACACTGGTACAATGTGTGTGTTTAGTTTTATGTCATTTTATCACGTGAATTTTGTCATTTCAAGAATGGTACAGTTTGGGACCTTTTAAGATTGTTTTTTTCCACTCAAACCCTTGAGATCCATCCAGGTTGTTGCCTGTATCAGTAGTTCTCCTTTTTTATTGCTGAGTAGTATTCCATGGTATGGATTACCATAGTTTATGTAACTATCTATGGTAGGAGGTTTTGGTCATTTCCAGTTCTGGGCTATTGCAAATAAAGCTGCTAATCAGCAGTTGTGTCCAGGTTTTTGTGTGGACTTAAGTTTTCATTTCTCTGGGTAAATGCCTAGGAGGGCAATTGCTGGGTTGTGGTTAAGTTTGTTTAGTTTTTTAAGAAACTGCCAAACTATTTTCCAGAGTGGCCGTGCCATTTTACATTCCCACCAGCAATGTATGAGAGATCCAGTGTCTCCGAATCTTCGCCAGCATTTGGTATTGTCATTATTTTTTATTTTAGCTGTTCTGATAGGTGTGTAGTGATATCTCATCGTGGTCTTAATTTGCATTTCCCTGATGGCTAGTGATGTTGAACATCTTTTTCATGTGCTTATTTACCATTCGTATATCCTTTTTGGTGATGTCTTTTCATATCTTTTGCTCATTTTCTAATTGGATTGGTTTTTTGTTGTGTTTTTTTTTTTTTTTTAACTGTTGAGTTTTGAGAGTTTGAATATATTCTAAATATGAATCCTGTATCAGATACATAGTTTGCAAATATTTTCTTTCAGTCTGTAGCTTGTCATTTCATCCTCTTTAATAGGGTCTTTCACAGAGCAAATGTTTGTAGTTTTTATTAAATCCAGTATATTGATTTTTTAAAA
|
Task1_train_16385
|
A genomic change on Chromosome 11 affects EED (embryonic ectoderm development). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; Cohen-Gibson syndrome
|
ACATTTTACTTATTTGTATTTTGGTATGCATATGCTTGGCCTTTTAAGTTATAAATGTAAAAGTTTTAAATCACTTAAGCTTATTATGGACTAGGGAGAGTAAAGGACACTTTAGAATAATGTTAACTTTTTTTAAATGATGCTAATTCTAATTCAAGATGGTAAACCACAGTTTTAAACAATGGAGTTCTTAGCTCTAATTCATGATAATGTTTTTCCCTAAATGATGCTCACTTGATTAAATGGAGAGAATTCAAATGCAGGAGCCTCACTTCATGGTACTATAGGTTGGGGAATTTTGCAGTTTTCTTAGTATATTTTTGAAATGTCTCAATTCTTAATGCAGTAACTGTCTTTAGAATCTTATCAGGCTGTCATTAACACTTTCACTATAAACGTTGTATGTCTGCATGTTAACTTTGTTGGCACTTTTGTTTTAGCAAAGAGCTAGAATTCATTTTCTGGTTATCAAGCCAGATTGTTAATAGATTATTAAATTTGTAAGCATCAGTAAATATTTCAATGCACTAACATTCATCAGACCTAAGTGTCCTCTAAGAATTATTAAAAGTTTTACCTTTCTCCTTTAAAACACCAGGAGCTAGTAGGACAATGTTAAATTTATATTTTTAGATTATTTTCTAGATATCTGGAATAAATACAAACTATATTTCAGAGTTTTCAAAAAATAACAGTTGTACTCGTTTTTTCTTTGAGAGAGGTTTGGCCATACAATTATAGTATGTATTTAGCTAAAAAGCAATTAATATAATTATAGCAGAGTTAAGAATTTATATCAGATCACGAATAACATTTTAATGTTTCAACAAAATATCCCAGAATTTGAATTGGAAGGATTGTTTTGAGTTGCTCCAATCCAAAGTGCTTTTTTACATATCTGAGGGAAAAGGTAAAGAGAGGACATATGAATTGCCTAAGACAACTAATTCATGGCATATTATACTTATACAGCTATTTCTGATTTAAAACTGAGTATATTAGGAATGTTAAGTGTACTGTTAAATAACTCCAGAATTAATAGCAGCTTGTTTTGTTTCTTCTCACAAATATCTCTAATGAAAACAGTGTTGCCATTTAGTTTCCTAAATACAGAAATTATTTGGAAAAGTCCTAGGAAATTTTATTTTGTTCTATTTGTTTTTTTGAGACGGAGTTTTGCTCTTGTTTCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCTGCCTCGCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGATTACAGGCGGCCGCCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGGTGGTCTCGAACTCCTGACCTCAGATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGAGCCACCGCACCCACCCCCACTTAAGAAATTTTAAATTCCTGTAAGGCATCATTTTCAGAAATTATTGCTCAAGGCAGGACTGTAGATGTATCTTTAGCAGACTTTGGAATGATGTTTAGTTGTTCCTGGAAAGATGACTATCTTTTGAAATAGTGTAGATATATTGACTTTCATAGATTATTAATGCTTAATTTTAAGGACTGAGTAGGTAGCTTAGTATATTTTCAGTGAGAAACTGATCAGGCCTTTATTATTGGTTAGGGTACCCAGAATTGAGGTGATTAATTTTGGGTTATATATAGTAAAACGCAGGAAACTACAATGTTTATAAACAAAGTATCTATCATAGGACAAAGATAAAATTGGATAATAATGGAGAAAAATAAACAAAAGTGGAATGAGACTTTAGCTTTCAATAAATAGATAAGGTGGTTGGTTATGTAGGAACACAGAGGAATTAATAGTCTTACATTTTGTTTTTCCAAGTTTTATAAATCCAAAAATGAAAAAGAGTATGATTCTACTATAATTTTTTCTTTTAACTTTTTACATTTCCATTCTTCCTTCAGGCCATTTATTTCTCAGAAAATCCATTTTCCTGATTTTTCTACCAGAGACATACATAGGAATTATGTTGATTGTGTGCGATGGTTAGGCGATTTGATACTTTCTAAGGTATGGTAACTGCAGTTAAGCTGTACTTCCATCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGCGCATGTTGGAACTTGGCAGGGAGCACTTTATGTAGTTTATTAAATTGAATGGCAGCTGGGAAGTTGCCTTTTTTAAAGTCTCATATTTTGATATATTTAGAAACTTGTTTTAAGAATAAAACATGCCATTGAATTATAATTCTTTGTGCTCCAGTAAGATGAGTATAGTTTTATAAGGTGATAGTATTCTCTGATAGTCAGTATTGTTACAAGATAACCAGTAACTAAAGCCAACAGAATTGGCTTTTGTTTTTTTGTATCTCTGTGACTATTTTAGTAAAATTTTATTTATAAAAACAGGTGGCTGGAGTTGGCTTATGGGCTGTAGTTTGCCAACCCCTGCCCCTGTTGATGGATTTATACAGATGCTCCTCAACTTATGATGGGATTACATCGTGATAAACCCATCATAAATTGAAAACGCATTTAATACACATAACCTACTGAATATCAGCTTAGCCCAGCCTATCTTAAATGTGCTCAGAATTAGCCTACAGTTGGGCAAAATTATCTAACACAAAGCCTGTTTTATAATAAAGCATTGAATATCTCACATACTGCATACTGCTAGCCCAGGAAAAGATCAAAATTCAAAATTCCAAGTACTTCAAAATTGCAGCTGTTTTGTACCATTTTGGTAAAGTTGAAAAATTGTAAATCAGACCATTGTAAGTCAAGGCCATCTGGGTGTGTGTGTGTGTGTGTTTGTGTGTCTGTGTATTTTTTTGTAGCTGATAATTTAGAGAAGCTATTGGTGATGTTACATGAGCATTTAGGATTATCAAATTTGGTGAAATTGCTGTCCGGTTTCTTTTCTTGATGTGAATTTCAGGCCACTTCACATTTTCTTGGGCAGAGCCTGATTTACTTTTTTCTTGGCTTTATGTGTAAACTGTTTTTTTCTTTTTTCTTTAAACTTTTGACCTTCAAATAACTTGATTCATAGGATGTTTCAAAGATTGTGCAGAGAGGTCCCATATGATCTTTATCCAGAATCCAAAGTTTATATATTATATAACTGTAATACAATATCAAATCCAGAAAATTGACACTGGTACAATGTGTGTGTTTAGTTTTATGTCATTTTATCACGTGAATTTTGTCATTTCAAGAATGGTACAGTTTGGGACCTTTTAAGATTGTTTTTTTCCACTCAAACCCTTGAGATCCATCCAGGTTGTTGCCTGTATCAGTAGTTCTCCTTTTTTATTGCTGAGTAGTATTCCATGGTATGGATTACCATAGTTTATGTAACTATCTATGGTAGGAGGTTTTGGTCATTTCCAGTTCTGGGCTATTGCAAATAAAGCTGCTAATCAGCAGTTGTGTCCAGGTTTTTGTGTGGACTTAAGTTTTCATTTCTCTGGGTAAATGCCTAGGAGGGCAATTGCTGGGTTGTGGTTAAGTTTGTTTAGTTTTTTAAGAAACTGCCAAACTATTTTCCAGAGTGGCCGTGCCATTTTACATTCCCACCAGCAATGTATGAGAGATCCAGTGTCTCCGAATCTTCGCCAGCATTTGGTATTGTCATTATTTTTTATTTTAGCTGTTCTGATAGGTGTGTAGTGATATCTCATCGTGGTCTTAATTTGCATTTCCCTGATGGCTAGTGATGTTGAACATCTTTTTCATGTGCTTATTTACCATTCGTATATCCTTTTTGGTGATGTCTTTTCATATCTTTTGCTCATTTTCTAATTGGATTGGTTTTTTGTTGTGTTTTTTTTTTTTTTTTAACTGTTGAGTTTTGAGAGTTTGAATATATTCTAAATATGAATCCTGTATCAGATACATAGTTTGCAAATATTTTCTTTCAGTCTGTAGCTTGTCATTTCATCCTCTTTAATAGGGTCTTTCACAGAGCAAATGTTTGTAGTTTTTATTAAATCCAGTATATTGATTTTTTAAAATT
|
ACATTTTACTTATTTGTATTTTGGTATGCATATGCTTGGCCTTTTAAGTTATAAATGTAAAAGTTTTAAATCACTTAAGCTTATTATGGACTAGGGAGAGTAAAGGACACTTTAGAATAATGTTAACTTTTTTTAAATGATGCTAATTCTAATTCAAGATGGTAAACCACAGTTTTAAACAATGGAGTTCTTAGCTCTAATTCATGATAATGTTTTTCCCTAAATGATGCTCACTTGATTAAATGGAGAGAATTCAAATGCAGGAGCCTCACTTCATGGTACTATAGGTTGGGGAATTTTGCAGTTTTCTTAGTATATTTTTGAAATGTCTCAATTCTTAATGCAGTAACTGTCTTTAGAATCTTATCAGGCTGTCATTAACACTTTCACTATAAACGTTGTATGTCTGCATGTTAACTTTGTTGGCACTTTTGTTTTAGCAAAGAGCTAGAATTCATTTTCTGGTTATCAAGCCAGATTGTTAATAGATTATTAAATTTGTAAGCATCAGTAAATATTTCAATGCACTAACATTCATCAGACCTAAGTGTCCTCTAAGAATTATTAAAAGTTTTACCTTTCTCCTTTAAAACACCAGGAGCTAGTAGGACAATGTTAAATTTATATTTTTAGATTATTTTCTAGATATCTGGAATAAATACAAACTATATTTCAGAGTTTTCAAAAAATAACAGTTGTACTCGTTTTTTCTTTGAGAGAGGTTTGGCCATACAATTATAGTATGTATTTAGCTAAAAAGCAATTAATATAATTATAGCAGAGTTAAGAATTTATATCAGATCACGAATAACATTTTAATGTTTCAACAAAATATCCCAGAATTTGAATTGGAAGGATTGTTTTGAGTTGCTCCAATCCAAAGTGCTTTTTTACATATCTGAGGGAAAAGGTAAAGAGAGGACATATGAATTGCCTAAGACAACTAATTCATGGCATATTATACTTATACAGCTATTTCTGATTTAAAACTGAGTATATTAGGAATGTTAAGTGTACTGTTAAATAACTCCAGAATTAATAGCAGCTTGTTTTGTTTCTTCTCACAAATATCTCTAATGAAAACAGTGTTGCCATTTAGTTTCCTAAATACAGAAATTATTTGGAAAAGTCCTAGGAAATTTTATTTTGTTCTATTTGTTTTTTTGAGACGGAGTTTTGCTCTTGTTTCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCTGCCTCGCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGATTACAGGCGGCCGCCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGGTGGTCTCGAACTCCTGACCTCAGATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGAGCCACCGCACCCACCCCCACTTAAGAAATTTTAAATTCCTGTAAGGCATCATTTTCAGAAATTATTGCTCAAGGCAGGACTGTAGATGTATCTTTAGCAGACTTTGGAATGATGTTTAGTTGTTCCTGGAAAGATGACTATCTTTTGAAATAGTGTAGATATATTGACTTTCATAGATTATTAATGCTTAATTTTAAGGACTGAGTAGGTAGCTTAGTATATTTTCAGTGAGAAACTGATCAGGCCTTTATTATTGGTTAGGGTACCCAGAATTGAGGTGATTAATTTTGGGTTATATATAGTAAAACGCAGGAAACTACAATGTTTATAAACAAAGTATCTATCATAGGACAAAGATAAAATTGGATAATAATGGAGAAAAATAAACAAAAGTGGAATGAGACTTTAGCTTTCAATAAATAGATAAGGTGGTTGGTTATGTAGGAACACAGAGGAATTAATAGTCTTACATTTTGTTTTTCCAAGTTTTATAAATCCAAAAATGAAAAAGAGTATGATTCTACTATAATTTTTTCTTTTAACTTTTTACATTTCCATTCTTCCTTCAGGCCATTTATTTCTCAGAAAATCCATTTTCCTGATTTTTCTACCAGCGACATACATAGGAATTATGTTGATTGTGTGCGATGGTTAGGCGATTTGATACTTTCTAAGGTATGGTAACTGCAGTTAAGCTGTACTTCCATCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGCGCATGTTGGAACTTGGCAGGGAGCACTTTATGTAGTTTATTAAATTGAATGGCAGCTGGGAAGTTGCCTTTTTTAAAGTCTCATATTTTGATATATTTAGAAACTTGTTTTAAGAATAAAACATGCCATTGAATTATAATTCTTTGTGCTCCAGTAAGATGAGTATAGTTTTATAAGGTGATAGTATTCTCTGATAGTCAGTATTGTTACAAGATAACCAGTAACTAAAGCCAACAGAATTGGCTTTTGTTTTTTTGTATCTCTGTGACTATTTTAGTAAAATTTTATTTATAAAAACAGGTGGCTGGAGTTGGCTTATGGGCTGTAGTTTGCCAACCCCTGCCCCTGTTGATGGATTTATACAGATGCTCCTCAACTTATGATGGGATTACATCGTGATAAACCCATCATAAATTGAAAACGCATTTAATACACATAACCTACTGAATATCAGCTTAGCCCAGCCTATCTTAAATGTGCTCAGAATTAGCCTACAGTTGGGCAAAATTATCTAACACAAAGCCTGTTTTATAATAAAGCATTGAATATCTCACATACTGCATACTGCTAGCCCAGGAAAAGATCAAAATTCAAAATTCCAAGTACTTCAAAATTGCAGCTGTTTTGTACCATTTTGGTAAAGTTGAAAAATTGTAAATCAGACCATTGTAAGTCAAGGCCATCTGGGTGTGTGTGTGTGTGTGTTTGTGTGTCTGTGTATTTTTTTGTAGCTGATAATTTAGAGAAGCTATTGGTGATGTTACATGAGCATTTAGGATTATCAAATTTGGTGAAATTGCTGTCCGGTTTCTTTTCTTGATGTGAATTTCAGGCCACTTCACATTTTCTTGGGCAGAGCCTGATTTACTTTTTTCTTGGCTTTATGTGTAAACTGTTTTTTTCTTTTTTCTTTAAACTTTTGACCTTCAAATAACTTGATTCATAGGATGTTTCAAAGATTGTGCAGAGAGGTCCCATATGATCTTTATCCAGAATCCAAAGTTTATATATTATATAACTGTAATACAATATCAAATCCAGAAAATTGACACTGGTACAATGTGTGTGTTTAGTTTTATGTCATTTTATCACGTGAATTTTGTCATTTCAAGAATGGTACAGTTTGGGACCTTTTAAGATTGTTTTTTTCCACTCAAACCCTTGAGATCCATCCAGGTTGTTGCCTGTATCAGTAGTTCTCCTTTTTTATTGCTGAGTAGTATTCCATGGTATGGATTACCATAGTTTATGTAACTATCTATGGTAGGAGGTTTTGGTCATTTCCAGTTCTGGGCTATTGCAAATAAAGCTGCTAATCAGCAGTTGTGTCCAGGTTTTTGTGTGGACTTAAGTTTTCATTTCTCTGGGTAAATGCCTAGGAGGGCAATTGCTGGGTTGTGGTTAAGTTTGTTTAGTTTTTTAAGAAACTGCCAAACTATTTTCCAGAGTGGCCGTGCCATTTTACATTCCCACCAGCAATGTATGAGAGATCCAGTGTCTCCGAATCTTCGCCAGCATTTGGTATTGTCATTATTTTTTATTTTAGCTGTTCTGATAGGTGTGTAGTGATATCTCATCGTGGTCTTAATTTGCATTTCCCTGATGGCTAGTGATGTTGAACATCTTTTTCATGTGCTTATTTACCATTCGTATATCCTTTTTGGTGATGTCTTTTCATATCTTTTGCTCATTTTCTAATTGGATTGGTTTTTTGTTGTGTTTTTTTTTTTTTTTTAACTGTTGAGTTTTGAGAGTTTGAATATATTCTAAATATGAATCCTGTATCAGATACATAGTTTGCAAATATTTTCTTTCAGTCTGTAGCTTGTCATTTCATCCTCTTTAATAGGGTCTTTCACAGAGCAAATGTTTGTAGTTTTTATTAAATCCAGTATATTGATTTTTTAAAATT
|
Task1_train_16386
|
A variant has been detected on Chromosome 11 in HIKESHI (heat shock protein nuclear import factor hikeshi). What is its effect — pathogenic or benign? If pathogenic, name the disease.
|
Pathogenic; HIKESHI-related disorder
|
TTCTTGCACTTAGGAAGACTAGCCAGCACTTGAACTTGGTCATTTTAAACAGCACGATCACCAACAAAAATCACAAAAATGCTTTAAATAGATGAGACTGTGAAAAGGACACTTTTTCATATTACGAGGACTGAAACAAGATGGCATGTTCTACCTCAGCTGCCAGTGTGTGAGTTGCACAACTCACTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTACTCTGTCAGCCAGGCTGGAGTGCAATGGTGTGATCTCTGCTCATCGCAACCTCCGCCTCCAGGTTCAAGCAATTCTCATGCCTCAGCCTCCTGAGTAGCTGAGACTACAGGCATGTGCCCCCATGCCCAGCTAATTTTTATATTTTTAGTAGATACTACGTTTCGCCATGTTGGCCAGGCTGATCTGGAACTCCTGACCTCAGGTGATCAACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCAGGCCTACAACTCACATTTTTTACTACTGTTCATATGAGTATGTCCATGAATGACTGCAGAAATGCAGCAAGCATTGATTTGGGATTACAAGTGAGTTTTAGTGAGTAGGTGAATTCAGATACAGGATTTGTGAATAAGGAGGATTGCCTAATTACTTCTGGATTGCTTACCTGTTTTAATTACCTGAGATTCTTTTATTTATTTTTGAGACAGGGTCATGCTCTGTCATCCAGGCTGTAGTGCAGTGGCGGGACCTCGGCTTGCTGCAGCCTTGACATCCTGGGTTCAAGTGATTATCTGGTCTTAGCCTCCCGAGTAGCTGGGACCAAAGGCGCATGCCACCACCCCTGGCTAATTTTTGTAGTTTTTGTAGAGATCGGATTTTGCCATGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCAAGCCAGCTGACTGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCCCTTTATCTTTAAGCTGGAGGGTGAGAGCTTAGGTGATGTGTTTTGAATAACCTTTCATTTTTACAACATTCTGAAGCTATAGTTATTTTTATTTATTTATTTTTTTGAGACGGAGTTTAGCTCTTGCACCCAGGCTGGTGCAATGGCGCGATCTCAGCTCACCGCAACCTCTACCTCCTGGGTTCAAGTGATTCTCCTACCTTAGCCTCCCGAGTACCTGGGATTACAGGCACGTGCCACCACGCTTGGCTAATTTCGTATTTTTAGTAGAAATGGGGTTTCTCCATGTTGGCCAGGCTGGTTTCGAACTCCTGACGTCGTGTGATCCTGGCCTCCCAGAGTGCCAGGATTACAGCCGTGAGCCACCGTGCCTGGCCTAGTTATTTTTTATGTAAGTAAAATCCTTTCAGGGCACCTCTGAAATAATTTATTTTTATTTTTATTTTATTTTTAGTTTTTGAGACAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTATGGTCTCAGCTCACTGCAACATCCACCACCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAATACTTATGCATGAGCCACCATACCTGGCTAGTTTTTGTATTTTTAGGAGAGATGGGGTTTTGCCATGTTGGCCAAGCTGGTCTTGAACTCCTGATCTCAGGTGATCTGCCCGCCTTGGCCTCCCACAAAGTGTTGGGATTACAGGTGTGAGCCGCTGTGATCTGCCCGAGTTATATTTTTAGAAGATTGCATTTAGTAGATTATGATTGTAAAACTAAGTATGTATTTAAGACTATCAGATTTAACATTCTATTTGGTAGAAAGACTATAATGGATTATGCTGGTAATATAACTTATAAATGATACTGTTAAGAGTTACAGAAACTCATAGAACCATTGAACTGAGACAAGTTTCTTATTTTCTAGGTGCAAACAGCTGCACAGCAAGTGGCAGAGGATAAATTTGTTTTTGACTTACCTGATTATGAAAGTATCAACCATGTTGTGGTTTTTATGCTGGGAACAATCCCATTTCCTGAGGGAATGGGAGGATCTGTCTACTTTTCTTATCCTGATTCAAATGGAATGCCAGTATGGCAACTCCTAGGATTTGTCACGAATGGGAAGCCAAGTGCCATCTTCAAAATTTCAGGTCTTAAATCTGGTAAGAATAATATATTAAAGTAGTTTTATAATTAATCAAACTTTTTTCTTAAATAGCATAACATGGAATATGACTTTTCCCCCTTTAGATTGTGTTTTTCTGGTTGTTAAAGTAATACAAAACATTGTTTTTTAAAAAAGACAATACAGAAACATTTGAAAAATAGTGAAAGACTTCCTGGGCTCCTCTTGTTGTTCATTTTGTGTAGTATAACCTTCATAAAAATATTTTTTTTGGCCGGGCGCGGCGGCTCATTCCTGTATCCCAGCACTTTGGGAGGCCCTGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGATAACACGGTGAAACCCTGTCTCCACTAAAAAATAAAAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGTGAGGTGGAGCTTGCAGTGAGCCAAGATCCCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAGAAAAAAAAAATATATATATATATATAAATATATATATTATGTATCAAATATATATTATGTGTAATATACATCATGTATCAAATATGTGTAATATACATCATGTATCAAATATATATTATGTATAATATACATCATATATCAAATATATATTATGTGTAATATACATCATATATCAAATATATATTATGTGTAATATACATCATATATCAAATATATATTATGTGTAATATACATCATATATCAAATATATATTATGTGTAATATACATCATATATCAAATATATATTATGTGTAATATACATCATATATCAAACATATATTATGTGTAATATACATTATATATCAAATATATATTATGTGTAATATACATTATATATCAATATATTATGTGTAATATACATTATATATCAATATATTATGTGTAGTATACATTATATATCAAATATATATTATGTGTAGTATACATTATATATCAAATATATATTATGTGTAGTATACATTATATATCAAATATATATTATGTGTAGTATACATTATATATCAAATATATTATGTGTAGTATACATTATATATCAAATATATATTATGTGTAGTATACATTATATATAAAATATATATTATGTGTAGTATACATTATATATAAAATATATATTATGTGTAGTATACATTATATAAAATATATATTATGTGTAGTATACATTATATAAAATATATATTATGTGTAGTATACATTATATAAAATATATATTATGTGTAATATACATTATATAAAATATATATTATGTGTAATATACATTATATAAAATATATATTATGTGTAATATACATTATATAAATATATATTATGTGTAATATACATTATATAAAATATATATTATGTGTAATATACAATATATAAAATATATATTATGTGTAATATATAATATATAAAATATATATTATGTGTAATATATATTATATAAAATATATATGTGTAATATATATTATATATAAAATGTATATTATGTGTAATATACATATTATAAATATATAATTATATATAAATTACATATAATATATAATATGTATATTACGTAAAATATACTATATAAATATACTATATACTATATATACAGTATACTATGTATTACATGTAAAATATATATTGTATAAAATATATATTACATATAAAATATATATTACATATAAAATATATATTATATATAAAATATATATTACATATAAAATATATATTATATATAAAATATATATTACATATAAAATGTGTATTATATATAAAATATATATTACATATAATATATATTATATATAAAATATATATTACATATAAAATATATATTATATAAAATATATATTACATATAAAATGTGTATTATATATAAAAAATATATACACACACATACACGTGCTAAGTGAGA
|
TTCTTGCACTTAGGAAGACTAGCCAGCACTTGAACTTGGTCATTTTAAACAGCACGATCACCAACAAAAATCACAAAAATGCTTTAAATAGATGAGACTGTGAAAAGGACACTTTTTCATATTACGAGGACTGAAACAAGATGGCATGTTCTACCTCAGCTGCCAGTGTGTGAGTTGCACAACTCACTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTACTCTGTCAGCCAGGCTGGAGTGCAATGGTGTGATCTCTGCTCATCGCAACCTCCGCCTCCAGGTTCAAGCAATTCTCATGCCTCAGCCTCCTGAGTAGCTGAGACTACAGGCATGTGCCCCCATGCCCAGCTAATTTTTATATTTTTAGTAGATACTACGTTTCGCCATGTTGGCCAGGCTGATCTGGAACTCCTGACCTCAGGTGATCAACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCAGGCCTACAACTCACATTTTTTACTACTGTTCATATGAGTATGTCCATGAATGACTGCAGAAATGCAGCAAGCATTGATTTGGGATTACAAGTGAGTTTTAGTGAGTAGGTGAATTCAGATACAGGATTTGTGAATAAGGAGGATTGCCTAATTACTTCTGGATTGCTTACCTGTTTTAATTACCTGAGATTCTTTTATTTATTTTTGAGACAGGGTCATGCTCTGTCATCCAGGCTGTAGTGCAGTGGCGGGACCTCGGCTTGCTGCAGCCTTGACATCCTGGGTTCAAGTGATTATCTGGTCTTAGCCTCCCGAGTAGCTGGGACCAAAGGCGCATGCCACCACCCCTGGCTAATTTTTGTAGTTTTTGTAGAGATCGGATTTTGCCATGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCAAGCCAGCTGACTGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCCCTTTATCTTTAAGCTGGAGGGTGAGAGCTTAGGTGATGTGTTTTGAATAACCTTTCATTTTTACAACATTCTGAAGCTATAGTTATTTTTATTTATTTATTTTTTTGAGACGGAGTTTAGCTCTTGCACCCAGGCTGGTGCAATGGCGCGATCTCAGCTCACCGCAACCTCTACCTCCTGGGTTCAAGTGATTCTCCTACCTTAGCCTCCCGAGTACCTGGGATTACAGGCACGTGCCACCACGCTTGGCTAATTTCGTATTTTTAGTAGAAATGGGGTTTCTCCATGTTGGCCAGGCTGGTTTCGAACTCCTGACGTCGTGTGATCCTGGCCTCCCAGAGTGCCAGGATTACAGCCGTGAGCCACCGTGCCTGGCCTAGTTATTTTTTATGTAAGTAAAATCCTTTCAGGGCACCTCTGAAATAATTTATTTTTATTTTTATTTTATTTTTAGTTTTTGAGACAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTATGGTCTCAGCTCACTGCAACATCCACCACCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAATACTTATGCATGAGCCACCATACCTGGCTAGTTTTTGTATTTTTAGGAGAGATGGGGTTTTGCCATGTTGGCCAAGCTGGTCTTGAACTCCTGATCTCAGGTGATCTGCCCGCCTTGGCCTCCCACAAAGTGTTGGGATTACAGGTGTGAGCCGCTGTGATCTGCCCGAGTTATATTTTTAGAAGATTGCATTTAGTAGATTATGATTGTAAAACTAAGTATGTATTTAAGACTATCAGATTTAACATTCTATTTGGTAGAAAGACTATAATGGATTATGCTGGTAATATAACTTATAAATGATACTGTTAAGAGTTACAGAAACTCATAGAACCATTGAACTGAGACAAGTTTCTTATTTTCTAGGTGCAAACAGCTGCACAGCAAGTGGCAGAGGATAAATTTGTTTTTGACTTACCTGATTATGAAAGTATCAACCATGTTGTGGTTTTTATGCTGGGAACAATCCCATTTCCTGAGGGAATGGGAGGATCTCTCTACTTTTCTTATCCTGATTCAAATGGAATGCCAGTATGGCAACTCCTAGGATTTGTCACGAATGGGAAGCCAAGTGCCATCTTCAAAATTTCAGGTCTTAAATCTGGTAAGAATAATATATTAAAGTAGTTTTATAATTAATCAAACTTTTTTCTTAAATAGCATAACATGGAATATGACTTTTCCCCCTTTAGATTGTGTTTTTCTGGTTGTTAAAGTAATACAAAACATTGTTTTTTAAAAAAGACAATACAGAAACATTTGAAAAATAGTGAAAGACTTCCTGGGCTCCTCTTGTTGTTCATTTTGTGTAGTATAACCTTCATAAAAATATTTTTTTTGGCCGGGCGCGGCGGCTCATTCCTGTATCCCAGCACTTTGGGAGGCCCTGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGATAACACGGTGAAACCCTGTCTCCACTAAAAAATAAAAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGTGAGGTGGAGCTTGCAGTGAGCCAAGATCCCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAGAAAAAAAAAATATATATATATATATAAATATATATATTATGTATCAAATATATATTATGTGTAATATACATCATGTATCAAATATGTGTAATATACATCATGTATCAAATATATATTATGTATAATATACATCATATATCAAATATATATTATGTGTAATATACATCATATATCAAATATATATTATGTGTAATATACATCATATATCAAATATATATTATGTGTAATATACATCATATATCAAATATATATTATGTGTAATATACATCATATATCAAATATATATTATGTGTAATATACATCATATATCAAACATATATTATGTGTAATATACATTATATATCAAATATATATTATGTGTAATATACATTATATATCAATATATTATGTGTAATATACATTATATATCAATATATTATGTGTAGTATACATTATATATCAAATATATATTATGTGTAGTATACATTATATATCAAATATATATTATGTGTAGTATACATTATATATCAAATATATATTATGTGTAGTATACATTATATATCAAATATATTATGTGTAGTATACATTATATATCAAATATATATTATGTGTAGTATACATTATATATAAAATATATATTATGTGTAGTATACATTATATATAAAATATATATTATGTGTAGTATACATTATATAAAATATATATTATGTGTAGTATACATTATATAAAATATATATTATGTGTAGTATACATTATATAAAATATATATTATGTGTAATATACATTATATAAAATATATATTATGTGTAATATACATTATATAAAATATATATTATGTGTAATATACATTATATAAATATATATTATGTGTAATATACATTATATAAAATATATATTATGTGTAATATACAATATATAAAATATATATTATGTGTAATATATAATATATAAAATATATATTATGTGTAATATATATTATATAAAATATATATGTGTAATATATATTATATATAAAATGTATATTATGTGTAATATACATATTATAAATATATAATTATATATAAATTACATATAATATATAATATGTATATTACGTAAAATATACTATATAAATATACTATATACTATATATACAGTATACTATGTATTACATGTAAAATATATATTGTATAAAATATATATTACATATAAAATATATATTACATATAAAATATATATTATATATAAAATATATATTACATATAAAATATATATTATATATAAAATATATATTACATATAAAATGTGTATTATATATAAAATATATATTACATATAATATATATTATATATAAAATATATATTACATATAAAATATATATTATATAAAATATATATTACATATAAAATGTGTATTATATATAAAAAATATATACACACACATACACGTGCTAAGTGAGA
|
Task1_train_16387
|
Given this context: Chromosome 11, gene HIKESHI (heat shock protein nuclear import factor hikeshi) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
|
Pathogenic; Hypomyelinating leukodystrophy 13
|
TTCTTGCACTTAGGAAGACTAGCCAGCACTTGAACTTGGTCATTTTAAACAGCACGATCACCAACAAAAATCACAAAAATGCTTTAAATAGATGAGACTGTGAAAAGGACACTTTTTCATATTACGAGGACTGAAACAAGATGGCATGTTCTACCTCAGCTGCCAGTGTGTGAGTTGCACAACTCACTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTACTCTGTCAGCCAGGCTGGAGTGCAATGGTGTGATCTCTGCTCATCGCAACCTCCGCCTCCAGGTTCAAGCAATTCTCATGCCTCAGCCTCCTGAGTAGCTGAGACTACAGGCATGTGCCCCCATGCCCAGCTAATTTTTATATTTTTAGTAGATACTACGTTTCGCCATGTTGGCCAGGCTGATCTGGAACTCCTGACCTCAGGTGATCAACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCAGGCCTACAACTCACATTTTTTACTACTGTTCATATGAGTATGTCCATGAATGACTGCAGAAATGCAGCAAGCATTGATTTGGGATTACAAGTGAGTTTTAGTGAGTAGGTGAATTCAGATACAGGATTTGTGAATAAGGAGGATTGCCTAATTACTTCTGGATTGCTTACCTGTTTTAATTACCTGAGATTCTTTTATTTATTTTTGAGACAGGGTCATGCTCTGTCATCCAGGCTGTAGTGCAGTGGCGGGACCTCGGCTTGCTGCAGCCTTGACATCCTGGGTTCAAGTGATTATCTGGTCTTAGCCTCCCGAGTAGCTGGGACCAAAGGCGCATGCCACCACCCCTGGCTAATTTTTGTAGTTTTTGTAGAGATCGGATTTTGCCATGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCAAGCCAGCTGACTGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCCCTTTATCTTTAAGCTGGAGGGTGAGAGCTTAGGTGATGTGTTTTGAATAACCTTTCATTTTTACAACATTCTGAAGCTATAGTTATTTTTATTTATTTATTTTTTTGAGACGGAGTTTAGCTCTTGCACCCAGGCTGGTGCAATGGCGCGATCTCAGCTCACCGCAACCTCTACCTCCTGGGTTCAAGTGATTCTCCTACCTTAGCCTCCCGAGTACCTGGGATTACAGGCACGTGCCACCACGCTTGGCTAATTTCGTATTTTTAGTAGAAATGGGGTTTCTCCATGTTGGCCAGGCTGGTTTCGAACTCCTGACGTCGTGTGATCCTGGCCTCCCAGAGTGCCAGGATTACAGCCGTGAGCCACCGTGCCTGGCCTAGTTATTTTTTATGTAAGTAAAATCCTTTCAGGGCACCTCTGAAATAATTTATTTTTATTTTTATTTTATTTTTAGTTTTTGAGACAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTATGGTCTCAGCTCACTGCAACATCCACCACCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAATACTTATGCATGAGCCACCATACCTGGCTAGTTTTTGTATTTTTAGGAGAGATGGGGTTTTGCCATGTTGGCCAAGCTGGTCTTGAACTCCTGATCTCAGGTGATCTGCCCGCCTTGGCCTCCCACAAAGTGTTGGGATTACAGGTGTGAGCCGCTGTGATCTGCCCGAGTTATATTTTTAGAAGATTGCATTTAGTAGATTATGATTGTAAAACTAAGTATGTATTTAAGACTATCAGATTTAACATTCTATTTGGTAGAAAGACTATAATGGATTATGCTGGTAATATAACTTATAAATGATACTGTTAAGAGTTACAGAAACTCATAGAACCATTGAACTGAGACAAGTTTCTTATTTTCTAGGTGCAAACAGCTGCACAGCAAGTGGCAGAGGATAAATTTGTTTTTGACTTACCTGATTATGAAAGTATCAACCATGTTGTGGTTTTTATGCTGGGAACAATCCCATTTCCTGAGGGAATGGGAGGATCTGTCTACTTTTCTTATCCTGATTCAAATGGAATGCCAGTATGGCAACTCCTAGGATTTGTCACGAATGGGAAGCCAAGTGCCATCTTCAAAATTTCAGGTCTTAAATCTGGTAAGAATAATATATTAAAGTAGTTTTATAATTAATCAAACTTTTTTCTTAAATAGCATAACATGGAATATGACTTTTCCCCCTTTAGATTGTGTTTTTCTGGTTGTTAAAGTAATACAAAACATTGTTTTTTAAAAAAGACAATACAGAAACATTTGAAAAATAGTGAAAGACTTCCTGGGCTCCTCTTGTTGTTCATTTTGTGTAGTATAACCTTCATAAAAATATTTTTTTTGGCCGGGCGCGGCGGCTCATTCCTGTATCCCAGCACTTTGGGAGGCCCTGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGATAACACGGTGAAACCCTGTCTCCACTAAAAAATAAAAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGTGAGGTGGAGCTTGCAGTGAGCCAAGATCCCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAGAAAAAAAAAATATATATATATATATAAATATATATATTATGTATCAAATATATATTATGTGTAATATACATCATGTATCAAATATGTGTAATATACATCATGTATCAAATATATATTATGTATAATATACATCATATATCAAATATATATTATGTGTAATATACATCATATATCAAATATATATTATGTGTAATATACATCATATATCAAATATATATTATGTGTAATATACATCATATATCAAATATATATTATGTGTAATATACATCATATATCAAATATATATTATGTGTAATATACATCATATATCAAACATATATTATGTGTAATATACATTATATATCAAATATATATTATGTGTAATATACATTATATATCAATATATTATGTGTAATATACATTATATATCAATATATTATGTGTAGTATACATTATATATCAAATATATATTATGTGTAGTATACATTATATATCAAATATATATTATGTGTAGTATACATTATATATCAAATATATATTATGTGTAGTATACATTATATATCAAATATATTATGTGTAGTATACATTATATATCAAATATATATTATGTGTAGTATACATTATATATAAAATATATATTATGTGTAGTATACATTATATATAAAATATATATTATGTGTAGTATACATTATATAAAATATATATTATGTGTAGTATACATTATATAAAATATATATTATGTGTAGTATACATTATATAAAATATATATTATGTGTAATATACATTATATAAAATATATATTATGTGTAATATACATTATATAAAATATATATTATGTGTAATATACATTATATAAATATATATTATGTGTAATATACATTATATAAAATATATATTATGTGTAATATACAATATATAAAATATATATTATGTGTAATATATAATATATAAAATATATATTATGTGTAATATATATTATATAAAATATATATGTGTAATATATATTATATATAAAATGTATATTATGTGTAATATACATATTATAAATATATAATTATATATAAATTACATATAATATATAATATGTATATTACGTAAAATATACTATATAAATATACTATATACTATATATACAGTATACTATGTATTACATGTAAAATATATATTGTATAAAATATATATTACATATAAAATATATATTACATATAAAATATATATTATATATAAAATATATATTACATATAAAATATATATTATATATAAAATATATATTACATATAAAATGTGTATTATATATAAAATATATATTACATATAATATATATTATATATAAAATATATATTACATATAAAATATATATTATATAAAATATATATTACATATAAAATGTGTATTATATATAAAAAATATATACACACACATACACGTGCTAAGTGAGA
|
TTCTTGCACTTAGGAAGACTAGCCAGCACTTGAACTTGGTCATTTTAAACAGCACGATCACCAACAAAAATCACAAAAATGCTTTAAATAGATGAGACTGTGAAAAGGACACTTTTTCATATTACGAGGACTGAAACAAGATGGCATGTTCTACCTCAGCTGCCAGTGTGTGAGTTGCACAACTCACTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTACTCTGTCAGCCAGGCTGGAGTGCAATGGTGTGATCTCTGCTCATCGCAACCTCCGCCTCCAGGTTCAAGCAATTCTCATGCCTCAGCCTCCTGAGTAGCTGAGACTACAGGCATGTGCCCCCATGCCCAGCTAATTTTTATATTTTTAGTAGATACTACGTTTCGCCATGTTGGCCAGGCTGATCTGGAACTCCTGACCTCAGGTGATCAACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCAGGCCTACAACTCACATTTTTTACTACTGTTCATATGAGTATGTCCATGAATGACTGCAGAAATGCAGCAAGCATTGATTTGGGATTACAAGTGAGTTTTAGTGAGTAGGTGAATTCAGATACAGGATTTGTGAATAAGGAGGATTGCCTAATTACTTCTGGATTGCTTACCTGTTTTAATTACCTGAGATTCTTTTATTTATTTTTGAGACAGGGTCATGCTCTGTCATCCAGGCTGTAGTGCAGTGGCGGGACCTCGGCTTGCTGCAGCCTTGACATCCTGGGTTCAAGTGATTATCTGGTCTTAGCCTCCCGAGTAGCTGGGACCAAAGGCGCATGCCACCACCCCTGGCTAATTTTTGTAGTTTTTGTAGAGATCGGATTTTGCCATGTTGCCCTGGCTGGTCTTGAACTCCTGAGCTCAAGCCAGCTGACTGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCCCTTTATCTTTAAGCTGGAGGGTGAGAGCTTAGGTGATGTGTTTTGAATAACCTTTCATTTTTACAACATTCTGAAGCTATAGTTATTTTTATTTATTTATTTTTTTGAGACGGAGTTTAGCTCTTGCACCCAGGCTGGTGCAATGGCGCGATCTCAGCTCACCGCAACCTCTACCTCCTGGGTTCAAGTGATTCTCCTACCTTAGCCTCCCGAGTACCTGGGATTACAGGCACGTGCCACCACGCTTGGCTAATTTCGTATTTTTAGTAGAAATGGGGTTTCTCCATGTTGGCCAGGCTGGTTTCGAACTCCTGACGTCGTGTGATCCTGGCCTCCCAGAGTGCCAGGATTACAGCCGTGAGCCACCGTGCCTGGCCTAGTTATTTTTTATGTAAGTAAAATCCTTTCAGGGCACCTCTGAAATAATTTATTTTTATTTTTATTTTATTTTTAGTTTTTGAGACAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTATGGTCTCAGCTCACTGCAACATCCACCACCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAATACTTATGCATGAGCCACCATACCTGGCTAGTTTTTGTATTTTTAGGAGAGATGGGGTTTTGCCATGTTGGCCAAGCTGGTCTTGAACTCCTGATCTCAGGTGATCTGCCCGCCTTGGCCTCCCACAAAGTGTTGGGATTACAGGTGTGAGCCGCTGTGATCTGCCCGAGTTATATTTTTAGAAGATTGCATTTAGTAGATTATGATTGTAAAACTAAGTATGTATTTAAGACTATCAGATTTAACATTCTATTTGGTAGAAAGACTATAATGGATTATGCTGGTAATATAACTTATAAATGATACTGTTAAGAGTTACAGAAACTCATAGAACCATTGAACTGAGACAAGTTTCTTATTTTCTAGGTGCAAACAGCTGCACAGCAAGTGGCAGAGGATAAATTTGTTTTTGACTTACCTGATTATGAAAGTATCAACCATGTTGTGGTTTTTATGCTGGGAACAATCCCATTTCCTGAGGGAATGGGAGGATCTCTCTACTTTTCTTATCCTGATTCAAATGGAATGCCAGTATGGCAACTCCTAGGATTTGTCACGAATGGGAAGCCAAGTGCCATCTTCAAAATTTCAGGTCTTAAATCTGGTAAGAATAATATATTAAAGTAGTTTTATAATTAATCAAACTTTTTTCTTAAATAGCATAACATGGAATATGACTTTTCCCCCTTTAGATTGTGTTTTTCTGGTTGTTAAAGTAATACAAAACATTGTTTTTTAAAAAAGACAATACAGAAACATTTGAAAAATAGTGAAAGACTTCCTGGGCTCCTCTTGTTGTTCATTTTGTGTAGTATAACCTTCATAAAAATATTTTTTTTGGCCGGGCGCGGCGGCTCATTCCTGTATCCCAGCACTTTGGGAGGCCCTGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGATAACACGGTGAAACCCTGTCTCCACTAAAAAATAAAAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGTGAGGTGGAGCTTGCAGTGAGCCAAGATCCCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAGAAAAAAAAAATATATATATATATATAAATATATATATTATGTATCAAATATATATTATGTGTAATATACATCATGTATCAAATATGTGTAATATACATCATGTATCAAATATATATTATGTATAATATACATCATATATCAAATATATATTATGTGTAATATACATCATATATCAAATATATATTATGTGTAATATACATCATATATCAAATATATATTATGTGTAATATACATCATATATCAAATATATATTATGTGTAATATACATCATATATCAAATATATATTATGTGTAATATACATCATATATCAAACATATATTATGTGTAATATACATTATATATCAAATATATATTATGTGTAATATACATTATATATCAATATATTATGTGTAATATACATTATATATCAATATATTATGTGTAGTATACATTATATATCAAATATATATTATGTGTAGTATACATTATATATCAAATATATATTATGTGTAGTATACATTATATATCAAATATATATTATGTGTAGTATACATTATATATCAAATATATTATGTGTAGTATACATTATATATCAAATATATATTATGTGTAGTATACATTATATATAAAATATATATTATGTGTAGTATACATTATATATAAAATATATATTATGTGTAGTATACATTATATAAAATATATATTATGTGTAGTATACATTATATAAAATATATATTATGTGTAGTATACATTATATAAAATATATATTATGTGTAATATACATTATATAAAATATATATTATGTGTAATATACATTATATAAAATATATATTATGTGTAATATACATTATATAAATATATATTATGTGTAATATACATTATATAAAATATATATTATGTGTAATATACAATATATAAAATATATATTATGTGTAATATATAATATATAAAATATATATTATGTGTAATATATATTATATAAAATATATATGTGTAATATATATTATATATAAAATGTATATTATGTGTAATATACATATTATAAATATATAATTATATATAAATTACATATAATATATAATATGTATATTACGTAAAATATACTATATAAATATACTATATACTATATATACAGTATACTATGTATTACATGTAAAATATATATTGTATAAAATATATATTACATATAAAATATATATTACATATAAAATATATATTATATATAAAATATATATTACATATAAAATATATATTATATATAAAATATATATTACATATAAAATGTGTATTATATATAAAATATATATTACATATAATATATATTATATATAAAATATATATTACATATAAAATATATATTATATAAAATATATATTACATATAAAATGTGTATTATATATAAAAAATATATACACACACATACACGTGCTAAGTGAGA
|
Task1_train_16388
|
Given this variant in gene FZD4, PRSS23 (frizzled class receptor 4| serine protease 23) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
|
Pathogenic; Exudative vitreoretinopathy, digenic
|
GAATTAATAAATAAATGTCATTGCAAAGCAGTTGCTGAAGCAGACAGGTATGAGTTACAAGGAGAGCAACCTGTGACATAGTCAATTTGTCCCCAAGATCTCATGATTAGAACGCCTAAGGCAAGGTAAGAGAAAGGCCAGTTACAGTTTTAAGAGAAGTGCAATTTTCGAGAGGCTGCTGGGGGTACCCCCTTGTGAAGAACGTATGCATAAATTTTAAAAGCTTTGGATACCTCTGCTAAAGGCAATTAAGACCTGGGCTATTAGAGTTTGCAGTTCATTTCATATGGTCTACACTTTATTCCCTACTAACCAATCAGGCTTCTGGCTGGCATTCTGGAGATTCATTAAGCACCATATAAATACTCCAGGCCACACTGCCTCCAGTGAAATCTTACAAGGAGCCTTTGCCAATTACTAGGAAACAATTACGCACCAAGTAGTTGGATTAGCTGTCCTCAGTTCCCTTTATAAAACTGAAAAAGTCTCCATTGTCCTAAGTAGACCAGATTCTGATAACATTCTTATGCTTTAAAAAATAAAAAAATTTTTAAAGGCACTATCATTCTGAGAATGCAAGTTGAAGTTGACCATAGTTTTAAAGTCAGTTGAGTATACTATGTCATGGTCCAACAATGTGCTTTTAATTGTAATTGACACACAAAAATTACACAGCTAATCTGTGTGAATGCAAAGTTGCCAAGAAACTTAACATTTCAGCTCTTCCAGACTGGCGTCTGCATAGATGCAATCACACAAGTAAAATATATTAAGTCCCCACTGCTCAATGCAATAGGTCTCTGGGGTCCGTCAGGTAAGTCAACTTAGTAAATCTCATTTTCCTCTGAATTAAGTGATTGTCAGAAAGTGAATCACCCTTCCTTTTCCCCTCTTTAAGCATGCTGCAGTACAAAAATTCTATAAAAATACCTTTTTTGAGTCATTAACATAAAATGAAGAAAACAGCAGCAGCCAAGAAGAGAGATGTTGAAATTTAAGAGAGGAAGACAGAGAAGAAAAATCCACTGGATACCTTATGTGTGTGAGTACAGTACTTTTGTTTGTTCAAATAACTGTTTTATGACAAAGGCACTGAAAGATTCTAACACCACTTCTTGGGAGTGCAGTCCACAAAGTTCTAAACAGCAGACAGCGCACCACAGAAGATGTTTATGTTACATCAGCCAAACTATAAAACTCTTGTAACACTTTTCTGAACCCAGCGTTTCCAGTGTTTATAGATTGCTTTGCTATCTGAAAGACCCAGTTAGTATTTAAAATGGTAAAGGGTTAAAAAAGTTAATATTTCTCCCTGCTAGTTACCAACTCACAGCTCAAATCCCACCCTGCAGGGGAAAACAGTATCGCCCTGGACTTCCTGGAATCTAGGCAGGACCTCCACGCTCCAAGCTGCAACCTGCTAAAGTGATCAACGTTTTGATTTTTCACAGCTTTGAAAGCCTCTAACTGGCTTTTCCATTTTGGATCATTCCAAAGTCTGCAGCAAAATCATTGGTTTTTTGATGCTGGGGTCGGGGTGGGAGGCAGTGGGTTGACGGGGGTCACTTAATTGTTGCTAGTTTGTTCAAACTGAGATTCACTGCATAAAACTTTTAGTAGAATTTCCTCCAAAATGCTGGCATTCCCCCCTTCAAAATGAAGAAAGCATGGAGGCTGACTAGCCTTATACCACAGTCTCACTGCCTTTTCCAGGCTTCACCCAACCATTTCCTCTCTTCTCTCTCTTTACCTTTCCAGAATTCACCAATCTGTTGGAACACTTCTGCCACGTGTGAAGAGTTTTGGCAGACCAAATCCACATGCCTGAAGTGATGCCCACCAACAAAGACATAAAAATTTTCAACATTTCAACAGCCATGTTGGAATCATCTGCAGAATACCGAAAAAGTGCCCAGTTGGAGATTTCATAAAAATAACAGGCAATCACACACGTTGCAGGAACTGTGTACAGTACTGAGAACACCCCAATCTTGACCATCAGTCTTTCTAACTTGTCTGTCTTTGTCCCATCCTTTTGAAGATTTGACCGAATTTTGAACAAGGCCACCAAACCTGCAGCAATGAACAAAGTTCCAATGACCAAATAAGTAAAGAGGGGAGCCACCACGAACCCGGTGAGGGCATCGAGATTTTGGTTTCCAACATAGCACAAGCCAGTCAGTTCATCTGCATCCACCAGTCTCATAATCAAGATGACAATGGTTTTCACTGCGGGGATGGCCCAGGCTGCAATGTGGAAATAAGAGCTGTGCATTTCAATGGCTTCATGACCCCATTTGAGTCCTGCTGCCAAAAACCAAGTGAGTGTCAGAATAACCCACCAAATGGAGCTGGCCATTCCAAAAAAGTACATCAGCAAGAAAATTATTGCACATCCTGTGTTCTTAAGTCCTTCTTGGATGAGAACAGGTTCTGCTGCCTCTTCAAAATCACAGGATATCCTTTCCCGGCCTACAGTCAGCCTGACAATATAAGCAATGCTATAAATATTATAGCACATACTGAGAAATATGATGGGGCGCTCAGGGTAGGAAAACCTAGAAGAATCGATCAGGAAGGTCAGTACTGTGAAGGCAGTGGAGATGAAACACAGGCTGGCCCACACAGCCATCCAGATATCAGTGAACTCCTTGGCTGAGCGGCTGTATAAGCCAGCATCATAGCCACACTTGAGCACACAGTTCAGGCTCCTTTTCACCCAGATGTACTGATCAGAATTGGTTCCCACAGAGTGACACTCTTCCCCAGGCTGGATGGGGGTTTTGTGAGGTAAGGGCACCTCTTCATCACCTGGCCCTTCCATGCACATGTGGTTGTGGTCGTTCTGTGGTGGGAATTTGCTGCAGTTCAGACTCTCTGGCCAGGCAAATCCAAATTCCTTCAGGACGGGTTCACAGCGTCTCTTGACTGAAAGACACATGCCGCCGCATGGGCCAATGGGGATGTTGATCTTCTCTGTGCACATTGGCACATAAACAGAACAAAGGAAGAACTGGAAAAGTAACAAAATGAACACACACAAAAAAAACAATGACTTGGAAGTTTGACCAAATGCTCCCACAAAGCTGAGTTGAATGCTTCCAGGCAATCTAGGTATCTACTTTTAAACCAACCTATCGGGAGTCTGTCTGTTTACTCTGACCTCAAACAAGGGCGCCTGATAATCCATCACTTACATACTTTTCTTAGTTTGGCTTTAGTAATCCTTTCCAGAAGAATGTACATAAATAAATAAATAAAATAAATAGGGTCTGAAGAATTGCATAAGCCCTCTTTGCACAACACTTGAAATAAATCTTAAAAAACTGGCTTTCAATCTCCTTCCATTTTAGAAACTATTTGAAAAAGCTAAAGAAACTAATATGACTCATTTAGGTGGTTTATTTTTATCCCCGTTTCTTTATCATTTTAAAAATAAAAGTTAAAAAAAAATGTAGATCCTGTTAGTATTCTCTTCTCCCTAATTTATCCCTTAAAAATTTGTTTAAACTAGTCCCATACTGAAACAAAAAATGGCCCAAATGAGACACTGTTAGACTCAAGGATGGGATGCAGATTGAGGTCTCTGGTCACTAGGGATTTGTTTGGCCAGGTTTCCTCAATGAATAATAATGAAGCACAATAGGAAAATGTAAATGTTAAGTCGCTGAAACTGCAGTACCAGCAGGGGAGAGTCCAGTTGCTGTCCTCAATTCCTCCAGCATTGATAAACAGTCTGCTTGGCTCCTTACAGATGTTGTCTATGAAGTCTAGAGTTACAAGTAACTATTTTCCAGCATGTAAAGGGATCCAGTCTTGTCCTTCAAAACAGCTTGGCCGCTTTCCCCAGGATACATGTAATTAAAAATATATATCCCTGCAAAAGCTGTTTCTCCAACAAATTGCCACTGATGTCAGGATATGTGCTGTTTCCAAACTGAGAGCTGGAGGATCATTTCTTAAGCTTTTATAACCTAGTTCTAAAGTTCTGAAACTTCCAAAGGGATATTTTAGCAGCAACAGGTCTAATCCCCACCATCTTTCCAAAACCACAAACCAAGTTTTAAAATGACCTATGTAAAAACATGCACCTAGT
|
GAATTAATAAATAAATGTCATTGCAAAGCAGTTGCTGAAGCAGACAGGTATGAGTTACAAGGAGAGCAACCTGTGACATAGTCAATTTGTCCCCAAGATCTCATGATTAGAACGCCTAAGGCAAGGTAAGAGAAAGGCCAGTTACAGTTTTAAGAGAAGTGCAATTTTCGAGAGGCTGCTGGGGGTACCCCCTTGTGAAGAACGTATGCATAAATTTTAAAAGCTTTGGATACCTCTGCTAAAGGCAATTAAGACCTGGGCTATTAGAGTTTGCAGTTCATTTCATATGGTCTACACTTTATTCCCTACTAACCAATCAGGCTTCTGGCTGGCATTCTGGAGATTCATTAAGCACCATATAAATACTCCAGGCCACACTGCCTCCAGTGAAATCTTACAAGGAGCCTTTGCCAATTACTAGGAAACAATTACGCACCAAGTAGTTGGATTAGCTGTCCTCAGTTCCCTTTATAAAACTGAAAAAGTCTCCATTGTCCTAAGTAGACCAGATTCTGATAACATTCTTATGCTTTAAAAAATAAAAAAATTTTTAAAGGCACTATCATTCTGAGAATGCAAGTTGAAGTTGACCATAGTTTTAAAGTCAGTTGAGTATACTATGTCATGGTCCAACAATGTGCTTTTAATTGTAATTGACACACAAAAATTACACAGCTAATCTGTGTGAATGCAAAGTTGCCAAGAAACTTAACATTTCAGCTCTTCCAGACTGGCGTCTGCATAGATGCAATCACACAAGTAAAATATATTAAGTCCCCACTGCTCAATGCAATAGGTCTCTGGGGTCCGTCAGGTAAGTCAACTTAGTAAATCTCATTTTCCTCTGAATTAAGTGATTGTCAGAAAGTGAATCACCCTTCCTTTTCCCCTCTTTAAGCATGCTGCAGTACAAAAATTCTATAAAAATACCTTTTTTGAGTCATTAACATAAAATGAAGAAAACAGCAGCAGCCAAGAAGAGAGATGTTGAAATTTAAGAGAGGAAGACAGAGAAGAAAAATCCACTGGATACCTTATGTGTGTGAGTACAGTACTTTTGTTTGTTCAAATAACTGTTTTATGACAAAGGCACTGAAAGATTCTAACACCACTTCTTGGGAGTGCAGTCCACAAAGTTCTAAACAGCAGACAGCGCACCACAGAAGATGTTTATGTTACATCAGCCAAACTATAAAACTCTTGTAACACTTTTCTGAACCCAGCGTTTCCAGTGTTTATAGATTGCTTTGCTATCTGAAAGACCCAGTTAGTATTTAAAATGGTAAAGGGTTAAAAAAGTTAATATTTCTCCCTGCTAGTTACCAACTCACAGCTCAAATCCCACCCTGCAGGGGAAAACAGTATCGCCCTGGACTTCCTGGAATCTAGGCAGGACCTCCACGCTCCAAGCTGCAACCTGCTAAAGTGATCAACGTTTTGATTTTTCACAGCTTTGAAAGCCTCTAACTGGCTTTTCCATTTTGGATCATTCCAAAGTCTGCAGCAAAATCATTGGTTTTTTGATGCTGGGGTCGGGGTGGGAGGCAGTGGGTTGACGGGGGTCACTTAATTGTTGCTAGTTTGTTCAAACTGAGATTCACTGCATAAAACTTTTAGTAGAATTTCCTCCAAAATGCTGGCATTCCCCCCTTCAAAATGAAGAAAGCATGGAGGCTGACTAGCCTTATACCACAGTCTCACTGCCTTTTCCAGGCTTCACCCAACCATTTCCTCTCTTCTCTCTCTTTACCTTTCCAGAATTCACCAATCTGTTGGAACACTTCTGCCACGTGTGAAGAGTTTTGGCAGACCAAATCCACATGCCTGAAGTGATGCCCACCAACAAAGACATAAAAATTTTCAACATTTCAACAGCCATGTTGGAATCATCTGCAGAATACCGAAAAAGTGCCCAGTTGGAGATTTCATAAAAATAACAGGCAATCACACACGTTGCAGGAACTGTGTACAGTACTGAGAACACCCCAATCTTGACCATCAGTCTTTCTAACTTGTCTGTCTTTGTCCCATCCTTTTGAAGATTTGACTGAATTTTGAACAAGGCCACCAAACCTGCAGCAATGAACAAAGTTCCAATGACCAAATAAGTAAAGAGGGGAGCCACCACGAACCCGGTGAGGGCATCGAGATTTTGGTTTCCAACATAGCACAAGCCAGTCAGTTCATCTGCATCCACCAGTCTCATAATCAAGATGACAATGGTTTTCACTGCGGGGATGGCCCAGGCTGCAATGTGGAAATAAGAGCTGTGCATTTCAATGGCTTCATGACCCCATTTGAGTCCTGCTGCCAAAAACCAAGTGAGTGTCAGAATAACCCACCAAATGGAGCTGGCCATTCCAAAAAAGTACATCAGCAAGAAAATTATTGCACATCCTGTGTTCTTAAGTCCTTCTTGGATGAGAACAGGTTCTGCTGCCTCTTCAAAATCACAGGATATCCTTTCCCGGCCTACAGTCAGCCTGACAATATAAGCAATGCTATAAATATTATAGCACATACTGAGAAATATGATGGGGCGCTCAGGGTAGGAAAACCTAGAAGAATCGATCAGGAAGGTCAGTACTGTGAAGGCAGTGGAGATGAAACACAGGCTGGCCCACACAGCCATCCAGATATCAGTGAACTCCTTGGCTGAGCGGCTGTATAAGCCAGCATCATAGCCACACTTGAGCACACAGTTCAGGCTCCTTTTCACCCAGATGTACTGATCAGAATTGGTTCCCACAGAGTGACACTCTTCCCCAGGCTGGATGGGGGTTTTGTGAGGTAAGGGCACCTCTTCATCACCTGGCCCTTCCATGCACATGTGGTTGTGGTCGTTCTGTGGTGGGAATTTGCTGCAGTTCAGACTCTCTGGCCAGGCAAATCCAAATTCCTTCAGGACGGGTTCACAGCGTCTCTTGACTGAAAGACACATGCCGCCGCATGGGCCAATGGGGATGTTGATCTTCTCTGTGCACATTGGCACATAAACAGAACAAAGGAAGAACTGGAAAAGTAACAAAATGAACACACACAAAAAAAACAATGACTTGGAAGTTTGACCAAATGCTCCCACAAAGCTGAGTTGAATGCTTCCAGGCAATCTAGGTATCTACTTTTAAACCAACCTATCGGGAGTCTGTCTGTTTACTCTGACCTCAAACAAGGGCGCCTGATAATCCATCACTTACATACTTTTCTTAGTTTGGCTTTAGTAATCCTTTCCAGAAGAATGTACATAAATAAATAAATAAAATAAATAGGGTCTGAAGAATTGCATAAGCCCTCTTTGCACAACACTTGAAATAAATCTTAAAAAACTGGCTTTCAATCTCCTTCCATTTTAGAAACTATTTGAAAAAGCTAAAGAAACTAATATGACTCATTTAGGTGGTTTATTTTTATCCCCGTTTCTTTATCATTTTAAAAATAAAAGTTAAAAAAAAATGTAGATCCTGTTAGTATTCTCTTCTCCCTAATTTATCCCTTAAAAATTTGTTTAAACTAGTCCCATACTGAAACAAAAAATGGCCCAAATGAGACACTGTTAGACTCAAGGATGGGATGCAGATTGAGGTCTCTGGTCACTAGGGATTTGTTTGGCCAGGTTTCCTCAATGAATAATAATGAAGCACAATAGGAAAATGTAAATGTTAAGTCGCTGAAACTGCAGTACCAGCAGGGGAGAGTCCAGTTGCTGTCCTCAATTCCTCCAGCATTGATAAACAGTCTGCTTGGCTCCTTACAGATGTTGTCTATGAAGTCTAGAGTTACAAGTAACTATTTTCCAGCATGTAAAGGGATCCAGTCTTGTCCTTCAAAACAGCTTGGCCGCTTTCCCCAGGATACATGTAATTAAAAATATATATCCCTGCAAAAGCTGTTTCTCCAACAAATTGCCACTGATGTCAGGATATGTGCTGTTTCCAAACTGAGAGCTGGAGGATCATTTCTTAAGCTTTTATAACCTAGTTCTAAAGTTCTGAAACTTCCAAAGGGATATTTTAGCAGCAACAGGTCTAATCCCCACCATCTTTCCAAAACCACAAACCAAGTTTTAAAATGACCTATGTAAAAACATGCACCTAGT
|
Task1_train_16389
|
This gene mutation involves FZD4, PRSS23 (frizzled class receptor 4| serine protease 23) on Chromosome 11. Is it associated with any clinical condition, or is it benign?
|
Pathogenic; Exudative vitreoretinopathy 1
|
GAATTAATAAATAAATGTCATTGCAAAGCAGTTGCTGAAGCAGACAGGTATGAGTTACAAGGAGAGCAACCTGTGACATAGTCAATTTGTCCCCAAGATCTCATGATTAGAACGCCTAAGGCAAGGTAAGAGAAAGGCCAGTTACAGTTTTAAGAGAAGTGCAATTTTCGAGAGGCTGCTGGGGGTACCCCCTTGTGAAGAACGTATGCATAAATTTTAAAAGCTTTGGATACCTCTGCTAAAGGCAATTAAGACCTGGGCTATTAGAGTTTGCAGTTCATTTCATATGGTCTACACTTTATTCCCTACTAACCAATCAGGCTTCTGGCTGGCATTCTGGAGATTCATTAAGCACCATATAAATACTCCAGGCCACACTGCCTCCAGTGAAATCTTACAAGGAGCCTTTGCCAATTACTAGGAAACAATTACGCACCAAGTAGTTGGATTAGCTGTCCTCAGTTCCCTTTATAAAACTGAAAAAGTCTCCATTGTCCTAAGTAGACCAGATTCTGATAACATTCTTATGCTTTAAAAAATAAAAAAATTTTTAAAGGCACTATCATTCTGAGAATGCAAGTTGAAGTTGACCATAGTTTTAAAGTCAGTTGAGTATACTATGTCATGGTCCAACAATGTGCTTTTAATTGTAATTGACACACAAAAATTACACAGCTAATCTGTGTGAATGCAAAGTTGCCAAGAAACTTAACATTTCAGCTCTTCCAGACTGGCGTCTGCATAGATGCAATCACACAAGTAAAATATATTAAGTCCCCACTGCTCAATGCAATAGGTCTCTGGGGTCCGTCAGGTAAGTCAACTTAGTAAATCTCATTTTCCTCTGAATTAAGTGATTGTCAGAAAGTGAATCACCCTTCCTTTTCCCCTCTTTAAGCATGCTGCAGTACAAAAATTCTATAAAAATACCTTTTTTGAGTCATTAACATAAAATGAAGAAAACAGCAGCAGCCAAGAAGAGAGATGTTGAAATTTAAGAGAGGAAGACAGAGAAGAAAAATCCACTGGATACCTTATGTGTGTGAGTACAGTACTTTTGTTTGTTCAAATAACTGTTTTATGACAAAGGCACTGAAAGATTCTAACACCACTTCTTGGGAGTGCAGTCCACAAAGTTCTAAACAGCAGACAGCGCACCACAGAAGATGTTTATGTTACATCAGCCAAACTATAAAACTCTTGTAACACTTTTCTGAACCCAGCGTTTCCAGTGTTTATAGATTGCTTTGCTATCTGAAAGACCCAGTTAGTATTTAAAATGGTAAAGGGTTAAAAAAGTTAATATTTCTCCCTGCTAGTTACCAACTCACAGCTCAAATCCCACCCTGCAGGGGAAAACAGTATCGCCCTGGACTTCCTGGAATCTAGGCAGGACCTCCACGCTCCAAGCTGCAACCTGCTAAAGTGATCAACGTTTTGATTTTTCACAGCTTTGAAAGCCTCTAACTGGCTTTTCCATTTTGGATCATTCCAAAGTCTGCAGCAAAATCATTGGTTTTTTGATGCTGGGGTCGGGGTGGGAGGCAGTGGGTTGACGGGGGTCACTTAATTGTTGCTAGTTTGTTCAAACTGAGATTCACTGCATAAAACTTTTAGTAGAATTTCCTCCAAAATGCTGGCATTCCCCCCTTCAAAATGAAGAAAGCATGGAGGCTGACTAGCCTTATACCACAGTCTCACTGCCTTTTCCAGGCTTCACCCAACCATTTCCTCTCTTCTCTCTCTTTACCTTTCCAGAATTCACCAATCTGTTGGAACACTTCTGCCACGTGTGAAGAGTTTTGGCAGACCAAATCCACATGCCTGAAGTGATGCCCACCAACAAAGACATAAAAATTTTCAACATTTCAACAGCCATGTTGGAATCATCTGCAGAATACCGAAAAAGTGCCCAGTTGGAGATTTCATAAAAATAACAGGCAATCACACACGTTGCAGGAACTGTGTACAGTACTGAGAACACCCCAATCTTGACCATCAGTCTTTCTAACTTGTCTGTCTTTGTCCCATCCTTTTGAAGATTTGACCGAATTTTGAACAAGGCCACCAAACCTGCAGCAATGAACAAAGTTCCAATGACCAAATAAGTAAAGAGGGGAGCCACCACGAACCCGGTGAGGGCATCGAGATTTTGGTTTCCAACATAGCACAAGCCAGTCAGTTCATCTGCATCCACCAGTCTCATAATCAAGATGACAATGGTTTTCACTGCGGGGATGGCCCAGGCTGCAATGTGGAAATAAGAGCTGTGCATTTCAATGGCTTCATGACCCCATTTGAGTCCTGCTGCCAAAAACCAAGTGAGTGTCAGAATAACCCACCAAATGGAGCTGGCCATTCCAAAAAAGTACATCAGCAAGAAAATTATTGCACATCCTGTGTTCTTAAGTCCTTCTTGGATGAGAACAGGTTCTGCTGCCTCTTCAAAATCACAGGATATCCTTTCCCGGCCTACAGTCAGCCTGACAATATAAGCAATGCTATAAATATTATAGCACATACTGAGAAATATGATGGGGCGCTCAGGGTAGGAAAACCTAGAAGAATCGATCAGGAAGGTCAGTACTGTGAAGGCAGTGGAGATGAAACACAGGCTGGCCCACACAGCCATCCAGATATCAGTGAACTCCTTGGCTGAGCGGCTGTATAAGCCAGCATCATAGCCACACTTGAGCACACAGTTCAGGCTCCTTTTCACCCAGATGTACTGATCAGAATTGGTTCCCACAGAGTGACACTCTTCCCCAGGCTGGATGGGGGTTTTGTGAGGTAAGGGCACCTCTTCATCACCTGGCCCTTCCATGCACATGTGGTTGTGGTCGTTCTGTGGTGGGAATTTGCTGCAGTTCAGACTCTCTGGCCAGGCAAATCCAAATTCCTTCAGGACGGGTTCACAGCGTCTCTTGACTGAAAGACACATGCCGCCGCATGGGCCAATGGGGATGTTGATCTTCTCTGTGCACATTGGCACATAAACAGAACAAAGGAAGAACTGGAAAAGTAACAAAATGAACACACACAAAAAAAACAATGACTTGGAAGTTTGACCAAATGCTCCCACAAAGCTGAGTTGAATGCTTCCAGGCAATCTAGGTATCTACTTTTAAACCAACCTATCGGGAGTCTGTCTGTTTACTCTGACCTCAAACAAGGGCGCCTGATAATCCATCACTTACATACTTTTCTTAGTTTGGCTTTAGTAATCCTTTCCAGAAGAATGTACATAAATAAATAAATAAAATAAATAGGGTCTGAAGAATTGCATAAGCCCTCTTTGCACAACACTTGAAATAAATCTTAAAAAACTGGCTTTCAATCTCCTTCCATTTTAGAAACTATTTGAAAAAGCTAAAGAAACTAATATGACTCATTTAGGTGGTTTATTTTTATCCCCGTTTCTTTATCATTTTAAAAATAAAAGTTAAAAAAAAATGTAGATCCTGTTAGTATTCTCTTCTCCCTAATTTATCCCTTAAAAATTTGTTTAAACTAGTCCCATACTGAAACAAAAAATGGCCCAAATGAGACACTGTTAGACTCAAGGATGGGATGCAGATTGAGGTCTCTGGTCACTAGGGATTTGTTTGGCCAGGTTTCCTCAATGAATAATAATGAAGCACAATAGGAAAATGTAAATGTTAAGTCGCTGAAACTGCAGTACCAGCAGGGGAGAGTCCAGTTGCTGTCCTCAATTCCTCCAGCATTGATAAACAGTCTGCTTGGCTCCTTACAGATGTTGTCTATGAAGTCTAGAGTTACAAGTAACTATTTTCCAGCATGTAAAGGGATCCAGTCTTGTCCTTCAAAACAGCTTGGCCGCTTTCCCCAGGATACATGTAATTAAAAATATATATCCCTGCAAAAGCTGTTTCTCCAACAAATTGCCACTGATGTCAGGATATGTGCTGTTTCCAAACTGAGAGCTGGAGGATCATTTCTTAAGCTTTTATAACCTAGTTCTAAAGTTCTGAAACTTCCAAAGGGATATTTTAGCAGCAACAGGTCTAATCCCCACCATCTTTCCAAAACCACAAACCAAGTTTTAAAATGACCTATGTAAAAACATGCACCTAGT
|
GAATTAATAAATAAATGTCATTGCAAAGCAGTTGCTGAAGCAGACAGGTATGAGTTACAAGGAGAGCAACCTGTGACATAGTCAATTTGTCCCCAAGATCTCATGATTAGAACGCCTAAGGCAAGGTAAGAGAAAGGCCAGTTACAGTTTTAAGAGAAGTGCAATTTTCGAGAGGCTGCTGGGGGTACCCCCTTGTGAAGAACGTATGCATAAATTTTAAAAGCTTTGGATACCTCTGCTAAAGGCAATTAAGACCTGGGCTATTAGAGTTTGCAGTTCATTTCATATGGTCTACACTTTATTCCCTACTAACCAATCAGGCTTCTGGCTGGCATTCTGGAGATTCATTAAGCACCATATAAATACTCCAGGCCACACTGCCTCCAGTGAAATCTTACAAGGAGCCTTTGCCAATTACTAGGAAACAATTACGCACCAAGTAGTTGGATTAGCTGTCCTCAGTTCCCTTTATAAAACTGAAAAAGTCTCCATTGTCCTAAGTAGACCAGATTCTGATAACATTCTTATGCTTTAAAAAATAAAAAAATTTTTAAAGGCACTATCATTCTGAGAATGCAAGTTGAAGTTGACCATAGTTTTAAAGTCAGTTGAGTATACTATGTCATGGTCCAACAATGTGCTTTTAATTGTAATTGACACACAAAAATTACACAGCTAATCTGTGTGAATGCAAAGTTGCCAAGAAACTTAACATTTCAGCTCTTCCAGACTGGCGTCTGCATAGATGCAATCACACAAGTAAAATATATTAAGTCCCCACTGCTCAATGCAATAGGTCTCTGGGGTCCGTCAGGTAAGTCAACTTAGTAAATCTCATTTTCCTCTGAATTAAGTGATTGTCAGAAAGTGAATCACCCTTCCTTTTCCCCTCTTTAAGCATGCTGCAGTACAAAAATTCTATAAAAATACCTTTTTTGAGTCATTAACATAAAATGAAGAAAACAGCAGCAGCCAAGAAGAGAGATGTTGAAATTTAAGAGAGGAAGACAGAGAAGAAAAATCCACTGGATACCTTATGTGTGTGAGTACAGTACTTTTGTTTGTTCAAATAACTGTTTTATGACAAAGGCACTGAAAGATTCTAACACCACTTCTTGGGAGTGCAGTCCACAAAGTTCTAAACAGCAGACAGCGCACCACAGAAGATGTTTATGTTACATCAGCCAAACTATAAAACTCTTGTAACACTTTTCTGAACCCAGCGTTTCCAGTGTTTATAGATTGCTTTGCTATCTGAAAGACCCAGTTAGTATTTAAAATGGTAAAGGGTTAAAAAAGTTAATATTTCTCCCTGCTAGTTACCAACTCACAGCTCAAATCCCACCCTGCAGGGGAAAACAGTATCGCCCTGGACTTCCTGGAATCTAGGCAGGACCTCCACGCTCCAAGCTGCAACCTGCTAAAGTGATCAACGTTTTGATTTTTCACAGCTTTGAAAGCCTCTAACTGGCTTTTCCATTTTGGATCATTCCAAAGTCTGCAGCAAAATCATTGGTTTTTTGATGCTGGGGTCGGGGTGGGAGGCAGTGGGTTGACGGGGGTCACTTAATTGTTGCTAGTTTGTTCAAACTGAGATTCACTGCATAAAACTTTTAGTAGAATTTCCTCCAAAATGCTGGCATTCCCCCCTTCAAAATGAAGAAAGCATGGAGGCTGACTAGCCTTATACCACAGTCTCACTGCCTTTTCCAGGCTTCACCCAACCATTTCCTCTCTTCTCTCTCTTTACCTTTCCAGAATTCACCAATCTGTTGGAACACTTCTGCCACGTGTGAAGAGTTTTGGCAGACCAAATCCACATGCCTGAAGTGATGCCCACCAACAAAGACATAAAAATTTTCAACATTTCAACAGCCATGTTGGAATCATCTGCAGAATACCGAAAAAGTGCCCAGTTGGAGATTTCATAAAAATAACAGGCAATCACACACGTTGCAGGAACTGTGTACAGTACTGAGAACACCCCAATCTTGACCATCAGTCTTTCTAACTTGTCTGTCTTTGTCCCATCCTTTTGAAGATTTGACTGAATTTTGAACAAGGCCACCAAACCTGCAGCAATGAACAAAGTTCCAATGACCAAATAAGTAAAGAGGGGAGCCACCACGAACCCGGTGAGGGCATCGAGATTTTGGTTTCCAACATAGCACAAGCCAGTCAGTTCATCTGCATCCACCAGTCTCATAATCAAGATGACAATGGTTTTCACTGCGGGGATGGCCCAGGCTGCAATGTGGAAATAAGAGCTGTGCATTTCAATGGCTTCATGACCCCATTTGAGTCCTGCTGCCAAAAACCAAGTGAGTGTCAGAATAACCCACCAAATGGAGCTGGCCATTCCAAAAAAGTACATCAGCAAGAAAATTATTGCACATCCTGTGTTCTTAAGTCCTTCTTGGATGAGAACAGGTTCTGCTGCCTCTTCAAAATCACAGGATATCCTTTCCCGGCCTACAGTCAGCCTGACAATATAAGCAATGCTATAAATATTATAGCACATACTGAGAAATATGATGGGGCGCTCAGGGTAGGAAAACCTAGAAGAATCGATCAGGAAGGTCAGTACTGTGAAGGCAGTGGAGATGAAACACAGGCTGGCCCACACAGCCATCCAGATATCAGTGAACTCCTTGGCTGAGCGGCTGTATAAGCCAGCATCATAGCCACACTTGAGCACACAGTTCAGGCTCCTTTTCACCCAGATGTACTGATCAGAATTGGTTCCCACAGAGTGACACTCTTCCCCAGGCTGGATGGGGGTTTTGTGAGGTAAGGGCACCTCTTCATCACCTGGCCCTTCCATGCACATGTGGTTGTGGTCGTTCTGTGGTGGGAATTTGCTGCAGTTCAGACTCTCTGGCCAGGCAAATCCAAATTCCTTCAGGACGGGTTCACAGCGTCTCTTGACTGAAAGACACATGCCGCCGCATGGGCCAATGGGGATGTTGATCTTCTCTGTGCACATTGGCACATAAACAGAACAAAGGAAGAACTGGAAAAGTAACAAAATGAACACACACAAAAAAAACAATGACTTGGAAGTTTGACCAAATGCTCCCACAAAGCTGAGTTGAATGCTTCCAGGCAATCTAGGTATCTACTTTTAAACCAACCTATCGGGAGTCTGTCTGTTTACTCTGACCTCAAACAAGGGCGCCTGATAATCCATCACTTACATACTTTTCTTAGTTTGGCTTTAGTAATCCTTTCCAGAAGAATGTACATAAATAAATAAATAAAATAAATAGGGTCTGAAGAATTGCATAAGCCCTCTTTGCACAACACTTGAAATAAATCTTAAAAAACTGGCTTTCAATCTCCTTCCATTTTAGAAACTATTTGAAAAAGCTAAAGAAACTAATATGACTCATTTAGGTGGTTTATTTTTATCCCCGTTTCTTTATCATTTTAAAAATAAAAGTTAAAAAAAAATGTAGATCCTGTTAGTATTCTCTTCTCCCTAATTTATCCCTTAAAAATTTGTTTAAACTAGTCCCATACTGAAACAAAAAATGGCCCAAATGAGACACTGTTAGACTCAAGGATGGGATGCAGATTGAGGTCTCTGGTCACTAGGGATTTGTTTGGCCAGGTTTCCTCAATGAATAATAATGAAGCACAATAGGAAAATGTAAATGTTAAGTCGCTGAAACTGCAGTACCAGCAGGGGAGAGTCCAGTTGCTGTCCTCAATTCCTCCAGCATTGATAAACAGTCTGCTTGGCTCCTTACAGATGTTGTCTATGAAGTCTAGAGTTACAAGTAACTATTTTCCAGCATGTAAAGGGATCCAGTCTTGTCCTTCAAAACAGCTTGGCCGCTTTCCCCAGGATACATGTAATTAAAAATATATATCCCTGCAAAAGCTGTTTCTCCAACAAATTGCCACTGATGTCAGGATATGTGCTGTTTCCAAACTGAGAGCTGGAGGATCATTTCTTAAGCTTTTATAACCTAGTTCTAAAGTTCTGAAACTTCCAAAGGGATATTTTAGCAGCAACAGGTCTAATCCCCACCATCTTTCCAAAACCACAAACCAAGTTTTAAAATGACCTATGTAAAAACATGCACCTAGT
|
Task1_train_16390
|
A variant has been detected on Chromosome 11 in FZD4, PRSS23 (frizzled class receptor 4| serine protease 23). What is its effect — pathogenic or benign? If pathogenic, name the disease.
|
Pathogenic; not provided
|
TGGATACCTCTGCTAAAGGCAATTAAGACCTGGGCTATTAGAGTTTGCAGTTCATTTCATATGGTCTACACTTTATTCCCTACTAACCAATCAGGCTTCTGGCTGGCATTCTGGAGATTCATTAAGCACCATATAAATACTCCAGGCCACACTGCCTCCAGTGAAATCTTACAAGGAGCCTTTGCCAATTACTAGGAAACAATTACGCACCAAGTAGTTGGATTAGCTGTCCTCAGTTCCCTTTATAAAACTGAAAAAGTCTCCATTGTCCTAAGTAGACCAGATTCTGATAACATTCTTATGCTTTAAAAAATAAAAAAATTTTTAAAGGCACTATCATTCTGAGAATGCAAGTTGAAGTTGACCATAGTTTTAAAGTCAGTTGAGTATACTATGTCATGGTCCAACAATGTGCTTTTAATTGTAATTGACACACAAAAATTACACAGCTAATCTGTGTGAATGCAAAGTTGCCAAGAAACTTAACATTTCAGCTCTTCCAGACTGGCGTCTGCATAGATGCAATCACACAAGTAAAATATATTAAGTCCCCACTGCTCAATGCAATAGGTCTCTGGGGTCCGTCAGGTAAGTCAACTTAGTAAATCTCATTTTCCTCTGAATTAAGTGATTGTCAGAAAGTGAATCACCCTTCCTTTTCCCCTCTTTAAGCATGCTGCAGTACAAAAATTCTATAAAAATACCTTTTTTGAGTCATTAACATAAAATGAAGAAAACAGCAGCAGCCAAGAAGAGAGATGTTGAAATTTAAGAGAGGAAGACAGAGAAGAAAAATCCACTGGATACCTTATGTGTGTGAGTACAGTACTTTTGTTTGTTCAAATAACTGTTTTATGACAAAGGCACTGAAAGATTCTAACACCACTTCTTGGGAGTGCAGTCCACAAAGTTCTAAACAGCAGACAGCGCACCACAGAAGATGTTTATGTTACATCAGCCAAACTATAAAACTCTTGTAACACTTTTCTGAACCCAGCGTTTCCAGTGTTTATAGATTGCTTTGCTATCTGAAAGACCCAGTTAGTATTTAAAATGGTAAAGGGTTAAAAAAGTTAATATTTCTCCCTGCTAGTTACCAACTCACAGCTCAAATCCCACCCTGCAGGGGAAAACAGTATCGCCCTGGACTTCCTGGAATCTAGGCAGGACCTCCACGCTCCAAGCTGCAACCTGCTAAAGTGATCAACGTTTTGATTTTTCACAGCTTTGAAAGCCTCTAACTGGCTTTTCCATTTTGGATCATTCCAAAGTCTGCAGCAAAATCATTGGTTTTTTGATGCTGGGGTCGGGGTGGGAGGCAGTGGGTTGACGGGGGTCACTTAATTGTTGCTAGTTTGTTCAAACTGAGATTCACTGCATAAAACTTTTAGTAGAATTTCCTCCAAAATGCTGGCATTCCCCCCTTCAAAATGAAGAAAGCATGGAGGCTGACTAGCCTTATACCACAGTCTCACTGCCTTTTCCAGGCTTCACCCAACCATTTCCTCTCTTCTCTCTCTTTACCTTTCCAGAATTCACCAATCTGTTGGAACACTTCTGCCACGTGTGAAGAGTTTTGGCAGACCAAATCCACATGCCTGAAGTGATGCCCACCAACAAAGACATAAAAATTTTCAACATTTCAACAGCCATGTTGGAATCATCTGCAGAATACCGAAAAAGTGCCCAGTTGGAGATTTCATAAAAATAACAGGCAATCACACACGTTGCAGGAACTGTGTACAGTACTGAGAACACCCCAATCTTGACCATCAGTCTTTCTAACTTGTCTGTCTTTGTCCCATCCTTTTGAAGATTTGACCGAATTTTGAACAAGGCCACCAAACCTGCAGCAATGAACAAAGTTCCAATGACCAAATAAGTAAAGAGGGGAGCCACCACGAACCCGGTGAGGGCATCGAGATTTTGGTTTCCAACATAGCACAAGCCAGTCAGTTCATCTGCATCCACCAGTCTCATAATCAAGATGACAATGGTTTTCACTGCGGGGATGGCCCAGGCTGCAATGTGGAAATAAGAGCTGTGCATTTCAATGGCTTCATGACCCCATTTGAGTCCTGCTGCCAAAAACCAAGTGAGTGTCAGAATAACCCACCAAATGGAGCTGGCCATTCCAAAAAAGTACATCAGCAAGAAAATTATTGCACATCCTGTGTTCTTAAGTCCTTCTTGGATGAGAACAGGTTCTGCTGCCTCTTCAAAATCACAGGATATCCTTTCCCGGCCTACAGTCAGCCTGACAATATAAGCAATGCTATAAATATTATAGCACATACTGAGAAATATGATGGGGCGCTCAGGGTAGGAAAACCTAGAAGAATCGATCAGGAAGGTCAGTACTGTGAAGGCAGTGGAGATGAAACACAGGCTGGCCCACACAGCCATCCAGATATCAGTGAACTCCTTGGCTGAGCGGCTGTATAAGCCAGCATCATAGCCACACTTGAGCACACAGTTCAGGCTCCTTTTCACCCAGATGTACTGATCAGAATTGGTTCCCACAGAGTGACACTCTTCCCCAGGCTGGATGGGGGTTTTGTGAGGTAAGGGCACCTCTTCATCACCTGGCCCTTCCATGCACATGTGGTTGTGGTCGTTCTGTGGTGGGAATTTGCTGCAGTTCAGACTCTCTGGCCAGGCAAATCCAAATTCCTTCAGGACGGGTTCACAGCGTCTCTTGACTGAAAGACACATGCCGCCGCATGGGCCAATGGGGATGTTGATCTTCTCTGTGCACATTGGCACATAAACAGAACAAAGGAAGAACTGGAAAAGTAACAAAATGAACACACACAAAAAAAACAATGACTTGGAAGTTTGACCAAATGCTCCCACAAAGCTGAGTTGAATGCTTCCAGGCAATCTAGGTATCTACTTTTAAACCAACCTATCGGGAGTCTGTCTGTTTACTCTGACCTCAAACAAGGGCGCCTGATAATCCATCACTTACATACTTTTCTTAGTTTGGCTTTAGTAATCCTTTCCAGAAGAATGTACATAAATAAATAAATAAAATAAATAGGGTCTGAAGAATTGCATAAGCCCTCTTTGCACAACACTTGAAATAAATCTTAAAAAACTGGCTTTCAATCTCCTTCCATTTTAGAAACTATTTGAAAAAGCTAAAGAAACTAATATGACTCATTTAGGTGGTTTATTTTTATCCCCGTTTCTTTATCATTTTAAAAATAAAAGTTAAAAAAAAATGTAGATCCTGTTAGTATTCTCTTCTCCCTAATTTATCCCTTAAAAATTTGTTTAAACTAGTCCCATACTGAAACAAAAAATGGCCCAAATGAGACACTGTTAGACTCAAGGATGGGATGCAGATTGAGGTCTCTGGTCACTAGGGATTTGTTTGGCCAGGTTTCCTCAATGAATAATAATGAAGCACAATAGGAAAATGTAAATGTTAAGTCGCTGAAACTGCAGTACCAGCAGGGGAGAGTCCAGTTGCTGTCCTCAATTCCTCCAGCATTGATAAACAGTCTGCTTGGCTCCTTACAGATGTTGTCTATGAAGTCTAGAGTTACAAGTAACTATTTTCCAGCATGTAAAGGGATCCAGTCTTGTCCTTCAAAACAGCTTGGCCGCTTTCCCCAGGATACATGTAATTAAAAATATATATCCCTGCAAAAGCTGTTTCTCCAACAAATTGCCACTGATGTCAGGATATGTGCTGTTTCCAAACTGAGAGCTGGAGGATCATTTCTTAAGCTTTTATAACCTAGTTCTAAAGTTCTGAAACTTCCAAAGGGATATTTTAGCAGCAACAGGTCTAATCCCCACCATCTTTCCAAAACCACAAACCAAGTTTTAAAATGACCTATGTAAAAACATGCACCTAGTAAGTAAGCTGTATGTCTGTTTATTATCTCTCAGAAGTTACAGCCAGAACCACAGATTTCTTTTCTTTTCTTTTTTTTTTTGATACGGAGTTTCGCTCCTGTGGCCCAGGCTAGAGTGCAATGGTGCAATCCCCGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCACGCCACCACGCCCGG
|
TGGATACCTCTGCTAAAGGCAATTAAGACCTGGGCTATTAGAGTTTGCAGTTCATTTCATATGGTCTACACTTTATTCCCTACTAACCAATCAGGCTTCTGGCTGGCATTCTGGAGATTCATTAAGCACCATATAAATACTCCAGGCCACACTGCCTCCAGTGAAATCTTACAAGGAGCCTTTGCCAATTACTAGGAAACAATTACGCACCAAGTAGTTGGATTAGCTGTCCTCAGTTCCCTTTATAAAACTGAAAAAGTCTCCATTGTCCTAAGTAGACCAGATTCTGATAACATTCTTATGCTTTAAAAAATAAAAAAATTTTTAAAGGCACTATCATTCTGAGAATGCAAGTTGAAGTTGACCATAGTTTTAAAGTCAGTTGAGTATACTATGTCATGGTCCAACAATGTGCTTTTAATTGTAATTGACACACAAAAATTACACAGCTAATCTGTGTGAATGCAAAGTTGCCAAGAAACTTAACATTTCAGCTCTTCCAGACTGGCGTCTGCATAGATGCAATCACACAAGTAAAATATATTAAGTCCCCACTGCTCAATGCAATAGGTCTCTGGGGTCCGTCAGGTAAGTCAACTTAGTAAATCTCATTTTCCTCTGAATTAAGTGATTGTCAGAAAGTGAATCACCCTTCCTTTTCCCCTCTTTAAGCATGCTGCAGTACAAAAATTCTATAAAAATACCTTTTTTGAGTCATTAACATAAAATGAAGAAAACAGCAGCAGCCAAGAAGAGAGATGTTGAAATTTAAGAGAGGAAGACAGAGAAGAAAAATCCACTGGATACCTTATGTGTGTGAGTACAGTACTTTTGTTTGTTCAAATAACTGTTTTATGACAAAGGCACTGAAAGATTCTAACACCACTTCTTGGGAGTGCAGTCCACAAAGTTCTAAACAGCAGACAGCGCACCACAGAAGATGTTTATGTTACATCAGCCAAACTATAAAACTCTTGTAACACTTTTCTGAACCCAGCGTTTCCAGTGTTTATAGATTGCTTTGCTATCTGAAAGACCCAGTTAGTATTTAAAATGGTAAAGGGTTAAAAAAGTTAATATTTCTCCCTGCTAGTTACCAACTCACAGCTCAAATCCCACCCTGCAGGGGAAAACAGTATCGCCCTGGACTTCCTGGAATCTAGGCAGGACCTCCACGCTCCAAGCTGCAACCTGCTAAAGTGATCAACGTTTTGATTTTTCACAGCTTTGAAAGCCTCTAACTGGCTTTTCCATTTTGGATCATTCCAAAGTCTGCAGCAAAATCATTGGTTTTTTGATGCTGGGGTCGGGGTGGGAGGCAGTGGGTTGACGGGGGTCACTTAATTGTTGCTAGTTTGTTCAAACTGAGATTCACTGCATAAAACTTTTAGTAGAATTTCCTCCAAAATGCTGGCATTCCCCCCTTCAAAATGAAGAAAGCATGGAGGCTGACTAGCCTTATACCACAGTCTCACTGCCTTTTCCAGGCTTCACCCAACCATTTCCTCTCTTCTCTCTCTTTACCTTTCCAGAATTCACCAATCTGTTGGAACACTTCTGCCACGTGTGAAGAGTTTTGGCAGACCAAATCCACATGCCTGAAGTGATGCCCACCAACAAAGACATAAAAATTTTCAACATTTCAACAGCCATGTTGGAATCATCTGCAGAATACCGAAAAAGTGCCCAGTTGGAGATTTCATAAAAATAACAGGCAATCACACACGTTGCAGGAACTGTGTACAGTACTGAGAACACCCCAATCTTGACCATCAGTCTTTCTAACTTGTCTGTCTTTGTCCCATCCTTTTGAAGATTTGACCGAATTTTGAACAAGGCCACCAAACCTGCAGCAATGAACAAAGTTCCAATGACCAAATAAGTAAAGAGGGGAGCCACCACGAACCCGGTGAGGGCATCGAGATTTTGGTTTCCAACATAGCACAAGCCAGTCAGTTCATCTGCATCCACCAGTCTCATAATCAAGATGACAATGGTTTTCACTGCGGGGATGGCCCAGGCTGCAATGTGGAAATAAGAGCTGTGCACTTCAATGGCTTCATGACCCCATTTGAGTCCTGCTGCCAAAAACCAAGTGAGTGTCAGAATAACCCACCAAATGGAGCTGGCCATTCCAAAAAAGTACATCAGCAAGAAAATTATTGCACATCCTGTGTTCTTAAGTCCTTCTTGGATGAGAACAGGTTCTGCTGCCTCTTCAAAATCACAGGATATCCTTTCCCGGCCTACAGTCAGCCTGACAATATAAGCAATGCTATAAATATTATAGCACATACTGAGAAATATGATGGGGCGCTCAGGGTAGGAAAACCTAGAAGAATCGATCAGGAAGGTCAGTACTGTGAAGGCAGTGGAGATGAAACACAGGCTGGCCCACACAGCCATCCAGATATCAGTGAACTCCTTGGCTGAGCGGCTGTATAAGCCAGCATCATAGCCACACTTGAGCACACAGTTCAGGCTCCTTTTCACCCAGATGTACTGATCAGAATTGGTTCCCACAGAGTGACACTCTTCCCCAGGCTGGATGGGGGTTTTGTGAGGTAAGGGCACCTCTTCATCACCTGGCCCTTCCATGCACATGTGGTTGTGGTCGTTCTGTGGTGGGAATTTGCTGCAGTTCAGACTCTCTGGCCAGGCAAATCCAAATTCCTTCAGGACGGGTTCACAGCGTCTCTTGACTGAAAGACACATGCCGCCGCATGGGCCAATGGGGATGTTGATCTTCTCTGTGCACATTGGCACATAAACAGAACAAAGGAAGAACTGGAAAAGTAACAAAATGAACACACACAAAAAAAACAATGACTTGGAAGTTTGACCAAATGCTCCCACAAAGCTGAGTTGAATGCTTCCAGGCAATCTAGGTATCTACTTTTAAACCAACCTATCGGGAGTCTGTCTGTTTACTCTGACCTCAAACAAGGGCGCCTGATAATCCATCACTTACATACTTTTCTTAGTTTGGCTTTAGTAATCCTTTCCAGAAGAATGTACATAAATAAATAAATAAAATAAATAGGGTCTGAAGAATTGCATAAGCCCTCTTTGCACAACACTTGAAATAAATCTTAAAAAACTGGCTTTCAATCTCCTTCCATTTTAGAAACTATTTGAAAAAGCTAAAGAAACTAATATGACTCATTTAGGTGGTTTATTTTTATCCCCGTTTCTTTATCATTTTAAAAATAAAAGTTAAAAAAAAATGTAGATCCTGTTAGTATTCTCTTCTCCCTAATTTATCCCTTAAAAATTTGTTTAAACTAGTCCCATACTGAAACAAAAAATGGCCCAAATGAGACACTGTTAGACTCAAGGATGGGATGCAGATTGAGGTCTCTGGTCACTAGGGATTTGTTTGGCCAGGTTTCCTCAATGAATAATAATGAAGCACAATAGGAAAATGTAAATGTTAAGTCGCTGAAACTGCAGTACCAGCAGGGGAGAGTCCAGTTGCTGTCCTCAATTCCTCCAGCATTGATAAACAGTCTGCTTGGCTCCTTACAGATGTTGTCTATGAAGTCTAGAGTTACAAGTAACTATTTTCCAGCATGTAAAGGGATCCAGTCTTGTCCTTCAAAACAGCTTGGCCGCTTTCCCCAGGATACATGTAATTAAAAATATATATCCCTGCAAAAGCTGTTTCTCCAACAAATTGCCACTGATGTCAGGATATGTGCTGTTTCCAAACTGAGAGCTGGAGGATCATTTCTTAAGCTTTTATAACCTAGTTCTAAAGTTCTGAAACTTCCAAAGGGATATTTTAGCAGCAACAGGTCTAATCCCCACCATCTTTCCAAAACCACAAACCAAGTTTTAAAATGACCTATGTAAAAACATGCACCTAGTAAGTAAGCTGTATGTCTGTTTATTATCTCTCAGAAGTTACAGCCAGAACCACAGATTTCTTTTCTTTTCTTTTTTTTTTTGATACGGAGTTTCGCTCCTGTGGCCCAGGCTAGAGTGCAATGGTGCAATCCCCGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCACGCCACCACGCCCGG
|
Task1_train_16391
|
This variant affects gene FZD4, PRSS23 (frizzled class receptor 4| serine protease 23) located on Chromosome 11. Evaluate its biological effect and specify any disease association.
|
Pathogenic; Exudative vitreoretinopathy 1
|
CAATTAAGACCTGGGCTATTAGAGTTTGCAGTTCATTTCATATGGTCTACACTTTATTCCCTACTAACCAATCAGGCTTCTGGCTGGCATTCTGGAGATTCATTAAGCACCATATAAATACTCCAGGCCACACTGCCTCCAGTGAAATCTTACAAGGAGCCTTTGCCAATTACTAGGAAACAATTACGCACCAAGTAGTTGGATTAGCTGTCCTCAGTTCCCTTTATAAAACTGAAAAAGTCTCCATTGTCCTAAGTAGACCAGATTCTGATAACATTCTTATGCTTTAAAAAATAAAAAAATTTTTAAAGGCACTATCATTCTGAGAATGCAAGTTGAAGTTGACCATAGTTTTAAAGTCAGTTGAGTATACTATGTCATGGTCCAACAATGTGCTTTTAATTGTAATTGACACACAAAAATTACACAGCTAATCTGTGTGAATGCAAAGTTGCCAAGAAACTTAACATTTCAGCTCTTCCAGACTGGCGTCTGCATAGATGCAATCACACAAGTAAAATATATTAAGTCCCCACTGCTCAATGCAATAGGTCTCTGGGGTCCGTCAGGTAAGTCAACTTAGTAAATCTCATTTTCCTCTGAATTAAGTGATTGTCAGAAAGTGAATCACCCTTCCTTTTCCCCTCTTTAAGCATGCTGCAGTACAAAAATTCTATAAAAATACCTTTTTTGAGTCATTAACATAAAATGAAGAAAACAGCAGCAGCCAAGAAGAGAGATGTTGAAATTTAAGAGAGGAAGACAGAGAAGAAAAATCCACTGGATACCTTATGTGTGTGAGTACAGTACTTTTGTTTGTTCAAATAACTGTTTTATGACAAAGGCACTGAAAGATTCTAACACCACTTCTTGGGAGTGCAGTCCACAAAGTTCTAAACAGCAGACAGCGCACCACAGAAGATGTTTATGTTACATCAGCCAAACTATAAAACTCTTGTAACACTTTTCTGAACCCAGCGTTTCCAGTGTTTATAGATTGCTTTGCTATCTGAAAGACCCAGTTAGTATTTAAAATGGTAAAGGGTTAAAAAAGTTAATATTTCTCCCTGCTAGTTACCAACTCACAGCTCAAATCCCACCCTGCAGGGGAAAACAGTATCGCCCTGGACTTCCTGGAATCTAGGCAGGACCTCCACGCTCCAAGCTGCAACCTGCTAAAGTGATCAACGTTTTGATTTTTCACAGCTTTGAAAGCCTCTAACTGGCTTTTCCATTTTGGATCATTCCAAAGTCTGCAGCAAAATCATTGGTTTTTTGATGCTGGGGTCGGGGTGGGAGGCAGTGGGTTGACGGGGGTCACTTAATTGTTGCTAGTTTGTTCAAACTGAGATTCACTGCATAAAACTTTTAGTAGAATTTCCTCCAAAATGCTGGCATTCCCCCCTTCAAAATGAAGAAAGCATGGAGGCTGACTAGCCTTATACCACAGTCTCACTGCCTTTTCCAGGCTTCACCCAACCATTTCCTCTCTTCTCTCTCTTTACCTTTCCAGAATTCACCAATCTGTTGGAACACTTCTGCCACGTGTGAAGAGTTTTGGCAGACCAAATCCACATGCCTGAAGTGATGCCCACCAACAAAGACATAAAAATTTTCAACATTTCAACAGCCATGTTGGAATCATCTGCAGAATACCGAAAAAGTGCCCAGTTGGAGATTTCATAAAAATAACAGGCAATCACACACGTTGCAGGAACTGTGTACAGTACTGAGAACACCCCAATCTTGACCATCAGTCTTTCTAACTTGTCTGTCTTTGTCCCATCCTTTTGAAGATTTGACCGAATTTTGAACAAGGCCACCAAACCTGCAGCAATGAACAAAGTTCCAATGACCAAATAAGTAAAGAGGGGAGCCACCACGAACCCGGTGAGGGCATCGAGATTTTGGTTTCCAACATAGCACAAGCCAGTCAGTTCATCTGCATCCACCAGTCTCATAATCAAGATGACAATGGTTTTCACTGCGGGGATGGCCCAGGCTGCAATGTGGAAATAAGAGCTGTGCATTTCAATGGCTTCATGACCCCATTTGAGTCCTGCTGCCAAAAACCAAGTGAGTGTCAGAATAACCCACCAAATGGAGCTGGCCATTCCAAAAAAGTACATCAGCAAGAAAATTATTGCACATCCTGTGTTCTTAAGTCCTTCTTGGATGAGAACAGGTTCTGCTGCCTCTTCAAAATCACAGGATATCCTTTCCCGGCCTACAGTCAGCCTGACAATATAAGCAATGCTATAAATATTATAGCACATACTGAGAAATATGATGGGGCGCTCAGGGTAGGAAAACCTAGAAGAATCGATCAGGAAGGTCAGTACTGTGAAGGCAGTGGAGATGAAACACAGGCTGGCCCACACAGCCATCCAGATATCAGTGAACTCCTTGGCTGAGCGGCTGTATAAGCCAGCATCATAGCCACACTTGAGCACACAGTTCAGGCTCCTTTTCACCCAGATGTACTGATCAGAATTGGTTCCCACAGAGTGACACTCTTCCCCAGGCTGGATGGGGGTTTTGTGAGGTAAGGGCACCTCTTCATCACCTGGCCCTTCCATGCACATGTGGTTGTGGTCGTTCTGTGGTGGGAATTTGCTGCAGTTCAGACTCTCTGGCCAGGCAAATCCAAATTCCTTCAGGACGGGTTCACAGCGTCTCTTGACTGAAAGACACATGCCGCCGCATGGGCCAATGGGGATGTTGATCTTCTCTGTGCACATTGGCACATAAACAGAACAAAGGAAGAACTGGAAAAGTAACAAAATGAACACACACAAAAAAAACAATGACTTGGAAGTTTGACCAAATGCTCCCACAAAGCTGAGTTGAATGCTTCCAGGCAATCTAGGTATCTACTTTTAAACCAACCTATCGGGAGTCTGTCTGTTTACTCTGACCTCAAACAAGGGCGCCTGATAATCCATCACTTACATACTTTTCTTAGTTTGGCTTTAGTAATCCTTTCCAGAAGAATGTACATAAATAAATAAATAAAATAAATAGGGTCTGAAGAATTGCATAAGCCCTCTTTGCACAACACTTGAAATAAATCTTAAAAAACTGGCTTTCAATCTCCTTCCATTTTAGAAACTATTTGAAAAAGCTAAAGAAACTAATATGACTCATTTAGGTGGTTTATTTTTATCCCCGTTTCTTTATCATTTTAAAAATAAAAGTTAAAAAAAAATGTAGATCCTGTTAGTATTCTCTTCTCCCTAATTTATCCCTTAAAAATTTGTTTAAACTAGTCCCATACTGAAACAAAAAATGGCCCAAATGAGACACTGTTAGACTCAAGGATGGGATGCAGATTGAGGTCTCTGGTCACTAGGGATTTGTTTGGCCAGGTTTCCTCAATGAATAATAATGAAGCACAATAGGAAAATGTAAATGTTAAGTCGCTGAAACTGCAGTACCAGCAGGGGAGAGTCCAGTTGCTGTCCTCAATTCCTCCAGCATTGATAAACAGTCTGCTTGGCTCCTTACAGATGTTGTCTATGAAGTCTAGAGTTACAAGTAACTATTTTCCAGCATGTAAAGGGATCCAGTCTTGTCCTTCAAAACAGCTTGGCCGCTTTCCCCAGGATACATGTAATTAAAAATATATATCCCTGCAAAAGCTGTTTCTCCAACAAATTGCCACTGATGTCAGGATATGTGCTGTTTCCAAACTGAGAGCTGGAGGATCATTTCTTAAGCTTTTATAACCTAGTTCTAAAGTTCTGAAACTTCCAAAGGGATATTTTAGCAGCAACAGGTCTAATCCCCACCATCTTTCCAAAACCACAAACCAAGTTTTAAAATGACCTATGTAAAAACATGCACCTAGTAAGTAAGCTGTATGTCTGTTTATTATCTCTCAGAAGTTACAGCCAGAACCACAGATTTCTTTTCTTTTCTTTTTTTTTTTGATACGGAGTTTCGCTCCTGTGGCCCAGGCTAGAGTGCAATGGTGCAATCCCCGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCACGCCACCACGCCCGGCTAATTTTTGTACTTTTAG
|
CAATTAAGACCTGGGCTATTAGAGTTTGCAGTTCATTTCATATGGTCTACACTTTATTCCCTACTAACCAATCAGGCTTCTGGCTGGCATTCTGGAGATTCATTAAGCACCATATAAATACTCCAGGCCACACTGCCTCCAGTGAAATCTTACAAGGAGCCTTTGCCAATTACTAGGAAACAATTACGCACCAAGTAGTTGGATTAGCTGTCCTCAGTTCCCTTTATAAAACTGAAAAAGTCTCCATTGTCCTAAGTAGACCAGATTCTGATAACATTCTTATGCTTTAAAAAATAAAAAAATTTTTAAAGGCACTATCATTCTGAGAATGCAAGTTGAAGTTGACCATAGTTTTAAAGTCAGTTGAGTATACTATGTCATGGTCCAACAATGTGCTTTTAATTGTAATTGACACACAAAAATTACACAGCTAATCTGTGTGAATGCAAAGTTGCCAAGAAACTTAACATTTCAGCTCTTCCAGACTGGCGTCTGCATAGATGCAATCACACAAGTAAAATATATTAAGTCCCCACTGCTCAATGCAATAGGTCTCTGGGGTCCGTCAGGTAAGTCAACTTAGTAAATCTCATTTTCCTCTGAATTAAGTGATTGTCAGAAAGTGAATCACCCTTCCTTTTCCCCTCTTTAAGCATGCTGCAGTACAAAAATTCTATAAAAATACCTTTTTTGAGTCATTAACATAAAATGAAGAAAACAGCAGCAGCCAAGAAGAGAGATGTTGAAATTTAAGAGAGGAAGACAGAGAAGAAAAATCCACTGGATACCTTATGTGTGTGAGTACAGTACTTTTGTTTGTTCAAATAACTGTTTTATGACAAAGGCACTGAAAGATTCTAACACCACTTCTTGGGAGTGCAGTCCACAAAGTTCTAAACAGCAGACAGCGCACCACAGAAGATGTTTATGTTACATCAGCCAAACTATAAAACTCTTGTAACACTTTTCTGAACCCAGCGTTTCCAGTGTTTATAGATTGCTTTGCTATCTGAAAGACCCAGTTAGTATTTAAAATGGTAAAGGGTTAAAAAAGTTAATATTTCTCCCTGCTAGTTACCAACTCACAGCTCAAATCCCACCCTGCAGGGGAAAACAGTATCGCCCTGGACTTCCTGGAATCTAGGCAGGACCTCCACGCTCCAAGCTGCAACCTGCTAAAGTGATCAACGTTTTGATTTTTCACAGCTTTGAAAGCCTCTAACTGGCTTTTCCATTTTGGATCATTCCAAAGTCTGCAGCAAAATCATTGGTTTTTTGATGCTGGGGTCGGGGTGGGAGGCAGTGGGTTGACGGGGGTCACTTAATTGTTGCTAGTTTGTTCAAACTGAGATTCACTGCATAAAACTTTTAGTAGAATTTCCTCCAAAATGCTGGCATTCCCCCCTTCAAAATGAAGAAAGCATGGAGGCTGACTAGCCTTATACCACAGTCTCACTGCCTTTTCCAGGCTTCACCCAACCATTTCCTCTCTTCTCTCTCTTTACCTTTCCAGAATTCACCAATCTGTTGGAACACTTCTGCCACGTGTGAAGAGTTTTGGCAGACCAAATCCACATGCCTGAAGTGATGCCCACCAACAAAGACATAAAAATTTTCAACATTTCAACAGCCATGTTGGAATCATCTGCAGAATACCGAAAAAGTGCCCAGTTGGAGATTTCATAAAAATAACAGGCAATCACACACGTTGCAGGAACTGTGTACAGTACTGAGAACACCCCAATCTTGACCATCAGTCTTTCTAACTTGTCTGTCTTTGTCCCATCCTTTTGAAGATTTGACCGAATTTTGAACAAGGCCACCAAACCTGCAGCAATGAACAAAGTTCCAATGACCAAATAAGTAAAGAGGGGAGCCACCACGAACCCGGTGAGGGCATCGAGATTTTGGTTTCCAACATAGCACAAGCCAGTCAGTTCATCTGCATCCACCAGTCTCATAATCAAGATGACAATGGTTTTCACTGCGGGGATGGCCCAGGCTGCAATGTGGAAATAAGAGCTGTGCATTTCAATGGCTTCATGACCGCATTTGAGTCCTGCTGCCAAAAACCAAGTGAGTGTCAGAATAACCCACCAAATGGAGCTGGCCATTCCAAAAAAGTACATCAGCAAGAAAATTATTGCACATCCTGTGTTCTTAAGTCCTTCTTGGATGAGAACAGGTTCTGCTGCCTCTTCAAAATCACAGGATATCCTTTCCCGGCCTACAGTCAGCCTGACAATATAAGCAATGCTATAAATATTATAGCACATACTGAGAAATATGATGGGGCGCTCAGGGTAGGAAAACCTAGAAGAATCGATCAGGAAGGTCAGTACTGTGAAGGCAGTGGAGATGAAACACAGGCTGGCCCACACAGCCATCCAGATATCAGTGAACTCCTTGGCTGAGCGGCTGTATAAGCCAGCATCATAGCCACACTTGAGCACACAGTTCAGGCTCCTTTTCACCCAGATGTACTGATCAGAATTGGTTCCCACAGAGTGACACTCTTCCCCAGGCTGGATGGGGGTTTTGTGAGGTAAGGGCACCTCTTCATCACCTGGCCCTTCCATGCACATGTGGTTGTGGTCGTTCTGTGGTGGGAATTTGCTGCAGTTCAGACTCTCTGGCCAGGCAAATCCAAATTCCTTCAGGACGGGTTCACAGCGTCTCTTGACTGAAAGACACATGCCGCCGCATGGGCCAATGGGGATGTTGATCTTCTCTGTGCACATTGGCACATAAACAGAACAAAGGAAGAACTGGAAAAGTAACAAAATGAACACACACAAAAAAAACAATGACTTGGAAGTTTGACCAAATGCTCCCACAAAGCTGAGTTGAATGCTTCCAGGCAATCTAGGTATCTACTTTTAAACCAACCTATCGGGAGTCTGTCTGTTTACTCTGACCTCAAACAAGGGCGCCTGATAATCCATCACTTACATACTTTTCTTAGTTTGGCTTTAGTAATCCTTTCCAGAAGAATGTACATAAATAAATAAATAAAATAAATAGGGTCTGAAGAATTGCATAAGCCCTCTTTGCACAACACTTGAAATAAATCTTAAAAAACTGGCTTTCAATCTCCTTCCATTTTAGAAACTATTTGAAAAAGCTAAAGAAACTAATATGACTCATTTAGGTGGTTTATTTTTATCCCCGTTTCTTTATCATTTTAAAAATAAAAGTTAAAAAAAAATGTAGATCCTGTTAGTATTCTCTTCTCCCTAATTTATCCCTTAAAAATTTGTTTAAACTAGTCCCATACTGAAACAAAAAATGGCCCAAATGAGACACTGTTAGACTCAAGGATGGGATGCAGATTGAGGTCTCTGGTCACTAGGGATTTGTTTGGCCAGGTTTCCTCAATGAATAATAATGAAGCACAATAGGAAAATGTAAATGTTAAGTCGCTGAAACTGCAGTACCAGCAGGGGAGAGTCCAGTTGCTGTCCTCAATTCCTCCAGCATTGATAAACAGTCTGCTTGGCTCCTTACAGATGTTGTCTATGAAGTCTAGAGTTACAAGTAACTATTTTCCAGCATGTAAAGGGATCCAGTCTTGTCCTTCAAAACAGCTTGGCCGCTTTCCCCAGGATACATGTAATTAAAAATATATATCCCTGCAAAAGCTGTTTCTCCAACAAATTGCCACTGATGTCAGGATATGTGCTGTTTCCAAACTGAGAGCTGGAGGATCATTTCTTAAGCTTTTATAACCTAGTTCTAAAGTTCTGAAACTTCCAAAGGGATATTTTAGCAGCAACAGGTCTAATCCCCACCATCTTTCCAAAACCACAAACCAAGTTTTAAAATGACCTATGTAAAAACATGCACCTAGTAAGTAAGCTGTATGTCTGTTTATTATCTCTCAGAAGTTACAGCCAGAACCACAGATTTCTTTTCTTTTCTTTTTTTTTTTGATACGGAGTTTCGCTCCTGTGGCCCAGGCTAGAGTGCAATGGTGCAATCCCCGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCACGCCACCACGCCCGGCTAATTTTTGTACTTTTAG
|
Task1_train_16392
|
Given a variant located on Chromosome 11 and affecting FZD4, PRSS23 (frizzled class receptor 4| serine protease 23), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
|
Pathogenic; not provided
|
TTAACATTTCAGCTCTTCCAGACTGGCGTCTGCATAGATGCAATCACACAAGTAAAATATATTAAGTCCCCACTGCTCAATGCAATAGGTCTCTGGGGTCCGTCAGGTAAGTCAACTTAGTAAATCTCATTTTCCTCTGAATTAAGTGATTGTCAGAAAGTGAATCACCCTTCCTTTTCCCCTCTTTAAGCATGCTGCAGTACAAAAATTCTATAAAAATACCTTTTTTGAGTCATTAACATAAAATGAAGAAAACAGCAGCAGCCAAGAAGAGAGATGTTGAAATTTAAGAGAGGAAGACAGAGAAGAAAAATCCACTGGATACCTTATGTGTGTGAGTACAGTACTTTTGTTTGTTCAAATAACTGTTTTATGACAAAGGCACTGAAAGATTCTAACACCACTTCTTGGGAGTGCAGTCCACAAAGTTCTAAACAGCAGACAGCGCACCACAGAAGATGTTTATGTTACATCAGCCAAACTATAAAACTCTTGTAACACTTTTCTGAACCCAGCGTTTCCAGTGTTTATAGATTGCTTTGCTATCTGAAAGACCCAGTTAGTATTTAAAATGGTAAAGGGTTAAAAAAGTTAATATTTCTCCCTGCTAGTTACCAACTCACAGCTCAAATCCCACCCTGCAGGGGAAAACAGTATCGCCCTGGACTTCCTGGAATCTAGGCAGGACCTCCACGCTCCAAGCTGCAACCTGCTAAAGTGATCAACGTTTTGATTTTTCACAGCTTTGAAAGCCTCTAACTGGCTTTTCCATTTTGGATCATTCCAAAGTCTGCAGCAAAATCATTGGTTTTTTGATGCTGGGGTCGGGGTGGGAGGCAGTGGGTTGACGGGGGTCACTTAATTGTTGCTAGTTTGTTCAAACTGAGATTCACTGCATAAAACTTTTAGTAGAATTTCCTCCAAAATGCTGGCATTCCCCCCTTCAAAATGAAGAAAGCATGGAGGCTGACTAGCCTTATACCACAGTCTCACTGCCTTTTCCAGGCTTCACCCAACCATTTCCTCTCTTCTCTCTCTTTACCTTTCCAGAATTCACCAATCTGTTGGAACACTTCTGCCACGTGTGAAGAGTTTTGGCAGACCAAATCCACATGCCTGAAGTGATGCCCACCAACAAAGACATAAAAATTTTCAACATTTCAACAGCCATGTTGGAATCATCTGCAGAATACCGAAAAAGTGCCCAGTTGGAGATTTCATAAAAATAACAGGCAATCACACACGTTGCAGGAACTGTGTACAGTACTGAGAACACCCCAATCTTGACCATCAGTCTTTCTAACTTGTCTGTCTTTGTCCCATCCTTTTGAAGATTTGACCGAATTTTGAACAAGGCCACCAAACCTGCAGCAATGAACAAAGTTCCAATGACCAAATAAGTAAAGAGGGGAGCCACCACGAACCCGGTGAGGGCATCGAGATTTTGGTTTCCAACATAGCACAAGCCAGTCAGTTCATCTGCATCCACCAGTCTCATAATCAAGATGACAATGGTTTTCACTGCGGGGATGGCCCAGGCTGCAATGTGGAAATAAGAGCTGTGCATTTCAATGGCTTCATGACCCCATTTGAGTCCTGCTGCCAAAAACCAAGTGAGTGTCAGAATAACCCACCAAATGGAGCTGGCCATTCCAAAAAAGTACATCAGCAAGAAAATTATTGCACATCCTGTGTTCTTAAGTCCTTCTTGGATGAGAACAGGTTCTGCTGCCTCTTCAAAATCACAGGATATCCTTTCCCGGCCTACAGTCAGCCTGACAATATAAGCAATGCTATAAATATTATAGCACATACTGAGAAATATGATGGGGCGCTCAGGGTAGGAAAACCTAGAAGAATCGATCAGGAAGGTCAGTACTGTGAAGGCAGTGGAGATGAAACACAGGCTGGCCCACACAGCCATCCAGATATCAGTGAACTCCTTGGCTGAGCGGCTGTATAAGCCAGCATCATAGCCACACTTGAGCACACAGTTCAGGCTCCTTTTCACCCAGATGTACTGATCAGAATTGGTTCCCACAGAGTGACACTCTTCCCCAGGCTGGATGGGGGTTTTGTGAGGTAAGGGCACCTCTTCATCACCTGGCCCTTCCATGCACATGTGGTTGTGGTCGTTCTGTGGTGGGAATTTGCTGCAGTTCAGACTCTCTGGCCAGGCAAATCCAAATTCCTTCAGGACGGGTTCACAGCGTCTCTTGACTGAAAGACACATGCCGCCGCATGGGCCAATGGGGATGTTGATCTTCTCTGTGCACATTGGCACATAAACAGAACAAAGGAAGAACTGGAAAAGTAACAAAATGAACACACACAAAAAAAACAATGACTTGGAAGTTTGACCAAATGCTCCCACAAAGCTGAGTTGAATGCTTCCAGGCAATCTAGGTATCTACTTTTAAACCAACCTATCGGGAGTCTGTCTGTTTACTCTGACCTCAAACAAGGGCGCCTGATAATCCATCACTTACATACTTTTCTTAGTTTGGCTTTAGTAATCCTTTCCAGAAGAATGTACATAAATAAATAAATAAAATAAATAGGGTCTGAAGAATTGCATAAGCCCTCTTTGCACAACACTTGAAATAAATCTTAAAAAACTGGCTTTCAATCTCCTTCCATTTTAGAAACTATTTGAAAAAGCTAAAGAAACTAATATGACTCATTTAGGTGGTTTATTTTTATCCCCGTTTCTTTATCATTTTAAAAATAAAAGTTAAAAAAAAATGTAGATCCTGTTAGTATTCTCTTCTCCCTAATTTATCCCTTAAAAATTTGTTTAAACTAGTCCCATACTGAAACAAAAAATGGCCCAAATGAGACACTGTTAGACTCAAGGATGGGATGCAGATTGAGGTCTCTGGTCACTAGGGATTTGTTTGGCCAGGTTTCCTCAATGAATAATAATGAAGCACAATAGGAAAATGTAAATGTTAAGTCGCTGAAACTGCAGTACCAGCAGGGGAGAGTCCAGTTGCTGTCCTCAATTCCTCCAGCATTGATAAACAGTCTGCTTGGCTCCTTACAGATGTTGTCTATGAAGTCTAGAGTTACAAGTAACTATTTTCCAGCATGTAAAGGGATCCAGTCTTGTCCTTCAAAACAGCTTGGCCGCTTTCCCCAGGATACATGTAATTAAAAATATATATCCCTGCAAAAGCTGTTTCTCCAACAAATTGCCACTGATGTCAGGATATGTGCTGTTTCCAAACTGAGAGCTGGAGGATCATTTCTTAAGCTTTTATAACCTAGTTCTAAAGTTCTGAAACTTCCAAAGGGATATTTTAGCAGCAACAGGTCTAATCCCCACCATCTTTCCAAAACCACAAACCAAGTTTTAAAATGACCTATGTAAAAACATGCACCTAGTAAGTAAGCTGTATGTCTGTTTATTATCTCTCAGAAGTTACAGCCAGAACCACAGATTTCTTTTCTTTTCTTTTTTTTTTTGATACGGAGTTTCGCTCCTGTGGCCCAGGCTAGAGTGCAATGGTGCAATCCCCGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCACGCCACCACGCCCGGCTAATTTTTGTACTTTTAGTAGAGACAGGATTTCGCCATGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCGTGAGCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCAGAAACCAGATTTCTGAAGCCTGGACAACTAACGTCTACTTTTTCCCACAACTTCTCTCTTTTCTAAATTTCTAAAAATCACCCAGCCTCACCAACCCAAACATAACCAATGTTAACACTTTAAAAATTTTCCTGTCAGTCTTTTATTATCCCAATAAATTTTTTATTTTGCAGGATTATAATCACCCTGTATATGCAAATTCTTATTACTGTGGAATAAACATTTTCTCTATCATTAGATATGCTTTACATTTTTTAATGACTGCAAAAAAATTTCTTCCAATATACCAACCACCTTCCTGCAGCTTCTTCTCACCCTCCAAGCATTAAACGTGCCTTCAACTGTG
|
TTAACATTTCAGCTCTTCCAGACTGGCGTCTGCATAGATGCAATCACACAAGTAAAATATATTAAGTCCCCACTGCTCAATGCAATAGGTCTCTGGGGTCCGTCAGGTAAGTCAACTTAGTAAATCTCATTTTCCTCTGAATTAAGTGATTGTCAGAAAGTGAATCACCCTTCCTTTTCCCCTCTTTAAGCATGCTGCAGTACAAAAATTCTATAAAAATACCTTTTTTGAGTCATTAACATAAAATGAAGAAAACAGCAGCAGCCAAGAAGAGAGATGTTGAAATTTAAGAGAGGAAGACAGAGAAGAAAAATCCACTGGATACCTTATGTGTGTGAGTACAGTACTTTTGTTTGTTCAAATAACTGTTTTATGACAAAGGCACTGAAAGATTCTAACACCACTTCTTGGGAGTGCAGTCCACAAAGTTCTAAACAGCAGACAGCGCACCACAGAAGATGTTTATGTTACATCAGCCAAACTATAAAACTCTTGTAACACTTTTCTGAACCCAGCGTTTCCAGTGTTTATAGATTGCTTTGCTATCTGAAAGACCCAGTTAGTATTTAAAATGGTAAAGGGTTAAAAAAGTTAATATTTCTCCCTGCTAGTTACCAACTCACAGCTCAAATCCCACCCTGCAGGGGAAAACAGTATCGCCCTGGACTTCCTGGAATCTAGGCAGGACCTCCACGCTCCAAGCTGCAACCTGCTAAAGTGATCAACGTTTTGATTTTTCACAGCTTTGAAAGCCTCTAACTGGCTTTTCCATTTTGGATCATTCCAAAGTCTGCAGCAAAATCATTGGTTTTTTGATGCTGGGGTCGGGGTGGGAGGCAGTGGGTTGACGGGGGTCACTTAATTGTTGCTAGTTTGTTCAAACTGAGATTCACTGCATAAAACTTTTAGTAGAATTTCCTCCAAAATGCTGGCATTCCCCCCTTCAAAATGAAGAAAGCATGGAGGCTGACTAGCCTTATACCACAGTCTCACTGCCTTTTCCAGGCTTCACCCAACCATTTCCTCTCTTCTCTCTCTTTACCTTTCCAGAATTCACCAATCTGTTGGAACACTTCTGCCACGTGTGAAGAGTTTTGGCAGACCAAATCCACATGCCTGAAGTGATGCCCACCAACAAAGACATAAAAATTTTCAACATTTCAACAGCCATGTTGGAATCATCTGCAGAATACCGAAAAAGTGCCCAGTTGGAGATTTCATAAAAATAACAGGCAATCACACACGTTGCAGGAACTGTGTACAGTACTGAGAACACCCCAATCTTGACCATCAGTCTTTCTAACTTGTCTGTCTTTGTCCCATCCTTTTGAAGATTTGACCGAATTTTGAACAAGGCCACCAAACCTGCAGCAATGAACAAAGTTCCAATGACCAAATAAGTAAAGAGGGGAGCCACCACGAACCCGGTGAGGGCATCGAGATTTTGGTTTCCAACATAGCACAAGCCAGTCAGTTCATCTGCATCCACCAGTCTCATAATCAAGATGACAATGGTTTTCACTGCGGGGATGGCCCAGGCTGCAATGTGGAAATAAGAGCTGTGCATTTCAATGGCTTCATGACCCCATTTGAGTCCTGCTGCCAAAAACCAAGTGAGTGTCAGAATAACCCACCAAATGGAGCTGGCCATTCCAAAAAAGTACATCAGCAAGAAAATTATTGCACATCCTGTGTTCTTAAGTCCTTCTTGGATGAGAACAGGTTCTGCTGCCTCTTCAAAATCACAGGATATCCTTTCCCGGCCTACAGTCAGCCTGACAATATAAGCAATGCTATAAATATTATAGCACATACTGAGAAATATGATGGGGCGCTCAGGGTAGGAAAACCTAGAAGAATCGATCAGGAAGGTCAGTACTGTGAAGGCAGTGGAGATGAAACACAGGCTGGCCCACACAGCCATCCAGATATCAGTGAACTCCTTGGCTGAGCGGCTGTATAAGCCAGCATCATAGCCACACTTGAGCACACAGTTCAGGCTCCTTTTCACCCAGATGTACTGATCAGAATTGGTTCCCACAGAGTGATACTCTTCCCCAGGCTGGATGGGGGTTTTGTGAGGTAAGGGCACCTCTTCATCACCTGGCCCTTCCATGCACATGTGGTTGTGGTCGTTCTGTGGTGGGAATTTGCTGCAGTTCAGACTCTCTGGCCAGGCAAATCCAAATTCCTTCAGGACGGGTTCACAGCGTCTCTTGACTGAAAGACACATGCCGCCGCATGGGCCAATGGGGATGTTGATCTTCTCTGTGCACATTGGCACATAAACAGAACAAAGGAAGAACTGGAAAAGTAACAAAATGAACACACACAAAAAAAACAATGACTTGGAAGTTTGACCAAATGCTCCCACAAAGCTGAGTTGAATGCTTCCAGGCAATCTAGGTATCTACTTTTAAACCAACCTATCGGGAGTCTGTCTGTTTACTCTGACCTCAAACAAGGGCGCCTGATAATCCATCACTTACATACTTTTCTTAGTTTGGCTTTAGTAATCCTTTCCAGAAGAATGTACATAAATAAATAAATAAAATAAATAGGGTCTGAAGAATTGCATAAGCCCTCTTTGCACAACACTTGAAATAAATCTTAAAAAACTGGCTTTCAATCTCCTTCCATTTTAGAAACTATTTGAAAAAGCTAAAGAAACTAATATGACTCATTTAGGTGGTTTATTTTTATCCCCGTTTCTTTATCATTTTAAAAATAAAAGTTAAAAAAAAATGTAGATCCTGTTAGTATTCTCTTCTCCCTAATTTATCCCTTAAAAATTTGTTTAAACTAGTCCCATACTGAAACAAAAAATGGCCCAAATGAGACACTGTTAGACTCAAGGATGGGATGCAGATTGAGGTCTCTGGTCACTAGGGATTTGTTTGGCCAGGTTTCCTCAATGAATAATAATGAAGCACAATAGGAAAATGTAAATGTTAAGTCGCTGAAACTGCAGTACCAGCAGGGGAGAGTCCAGTTGCTGTCCTCAATTCCTCCAGCATTGATAAACAGTCTGCTTGGCTCCTTACAGATGTTGTCTATGAAGTCTAGAGTTACAAGTAACTATTTTCCAGCATGTAAAGGGATCCAGTCTTGTCCTTCAAAACAGCTTGGCCGCTTTCCCCAGGATACATGTAATTAAAAATATATATCCCTGCAAAAGCTGTTTCTCCAACAAATTGCCACTGATGTCAGGATATGTGCTGTTTCCAAACTGAGAGCTGGAGGATCATTTCTTAAGCTTTTATAACCTAGTTCTAAAGTTCTGAAACTTCCAAAGGGATATTTTAGCAGCAACAGGTCTAATCCCCACCATCTTTCCAAAACCACAAACCAAGTTTTAAAATGACCTATGTAAAAACATGCACCTAGTAAGTAAGCTGTATGTCTGTTTATTATCTCTCAGAAGTTACAGCCAGAACCACAGATTTCTTTTCTTTTCTTTTTTTTTTTGATACGGAGTTTCGCTCCTGTGGCCCAGGCTAGAGTGCAATGGTGCAATCCCCGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCACGCCACCACGCCCGGCTAATTTTTGTACTTTTAGTAGAGACAGGATTTCGCCATGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCGTGAGCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCAGAAACCAGATTTCTGAAGCCTGGACAACTAACGTCTACTTTTTCCCACAACTTCTCTCTTTTCTAAATTTCTAAAAATCACCCAGCCTCACCAACCCAAACATAACCAATGTTAACACTTTAAAAATTTTCCTGTCAGTCTTTTATTATCCCAATAAATTTTTTATTTTGCAGGATTATAATCACCCTGTATATGCAAATTCTTATTACTGTGGAATAAACATTTTCTCTATCATTAGATATGCTTTACATTTTTTAATGACTGCAAAAAAATTTCTTCCAATATACCAACCACCTTCCTGCAGCTTCTTCTCACCCTCCAAGCATTAAACGTGCCTTCAACTGTG
|
Task1_train_16393
|
Gene FZD4, PRSS23 (frizzled class receptor 4| serine protease 23) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign?
|
Pathogenic; not provided
|
ACAAAAATTCTATAAAAATACCTTTTTTGAGTCATTAACATAAAATGAAGAAAACAGCAGCAGCCAAGAAGAGAGATGTTGAAATTTAAGAGAGGAAGACAGAGAAGAAAAATCCACTGGATACCTTATGTGTGTGAGTACAGTACTTTTGTTTGTTCAAATAACTGTTTTATGACAAAGGCACTGAAAGATTCTAACACCACTTCTTGGGAGTGCAGTCCACAAAGTTCTAAACAGCAGACAGCGCACCACAGAAGATGTTTATGTTACATCAGCCAAACTATAAAACTCTTGTAACACTTTTCTGAACCCAGCGTTTCCAGTGTTTATAGATTGCTTTGCTATCTGAAAGACCCAGTTAGTATTTAAAATGGTAAAGGGTTAAAAAAGTTAATATTTCTCCCTGCTAGTTACCAACTCACAGCTCAAATCCCACCCTGCAGGGGAAAACAGTATCGCCCTGGACTTCCTGGAATCTAGGCAGGACCTCCACGCTCCAAGCTGCAACCTGCTAAAGTGATCAACGTTTTGATTTTTCACAGCTTTGAAAGCCTCTAACTGGCTTTTCCATTTTGGATCATTCCAAAGTCTGCAGCAAAATCATTGGTTTTTTGATGCTGGGGTCGGGGTGGGAGGCAGTGGGTTGACGGGGGTCACTTAATTGTTGCTAGTTTGTTCAAACTGAGATTCACTGCATAAAACTTTTAGTAGAATTTCCTCCAAAATGCTGGCATTCCCCCCTTCAAAATGAAGAAAGCATGGAGGCTGACTAGCCTTATACCACAGTCTCACTGCCTTTTCCAGGCTTCACCCAACCATTTCCTCTCTTCTCTCTCTTTACCTTTCCAGAATTCACCAATCTGTTGGAACACTTCTGCCACGTGTGAAGAGTTTTGGCAGACCAAATCCACATGCCTGAAGTGATGCCCACCAACAAAGACATAAAAATTTTCAACATTTCAACAGCCATGTTGGAATCATCTGCAGAATACCGAAAAAGTGCCCAGTTGGAGATTTCATAAAAATAACAGGCAATCACACACGTTGCAGGAACTGTGTACAGTACTGAGAACACCCCAATCTTGACCATCAGTCTTTCTAACTTGTCTGTCTTTGTCCCATCCTTTTGAAGATTTGACCGAATTTTGAACAAGGCCACCAAACCTGCAGCAATGAACAAAGTTCCAATGACCAAATAAGTAAAGAGGGGAGCCACCACGAACCCGGTGAGGGCATCGAGATTTTGGTTTCCAACATAGCACAAGCCAGTCAGTTCATCTGCATCCACCAGTCTCATAATCAAGATGACAATGGTTTTCACTGCGGGGATGGCCCAGGCTGCAATGTGGAAATAAGAGCTGTGCATTTCAATGGCTTCATGACCCCATTTGAGTCCTGCTGCCAAAAACCAAGTGAGTGTCAGAATAACCCACCAAATGGAGCTGGCCATTCCAAAAAAGTACATCAGCAAGAAAATTATTGCACATCCTGTGTTCTTAAGTCCTTCTTGGATGAGAACAGGTTCTGCTGCCTCTTCAAAATCACAGGATATCCTTTCCCGGCCTACAGTCAGCCTGACAATATAAGCAATGCTATAAATATTATAGCACATACTGAGAAATATGATGGGGCGCTCAGGGTAGGAAAACCTAGAAGAATCGATCAGGAAGGTCAGTACTGTGAAGGCAGTGGAGATGAAACACAGGCTGGCCCACACAGCCATCCAGATATCAGTGAACTCCTTGGCTGAGCGGCTGTATAAGCCAGCATCATAGCCACACTTGAGCACACAGTTCAGGCTCCTTTTCACCCAGATGTACTGATCAGAATTGGTTCCCACAGAGTGACACTCTTCCCCAGGCTGGATGGGGGTTTTGTGAGGTAAGGGCACCTCTTCATCACCTGGCCCTTCCATGCACATGTGGTTGTGGTCGTTCTGTGGTGGGAATTTGCTGCAGTTCAGACTCTCTGGCCAGGCAAATCCAAATTCCTTCAGGACGGGTTCACAGCGTCTCTTGACTGAAAGACACATGCCGCCGCATGGGCCAATGGGGATGTTGATCTTCTCTGTGCACATTGGCACATAAACAGAACAAAGGAAGAACTGGAAAAGTAACAAAATGAACACACACAAAAAAAACAATGACTTGGAAGTTTGACCAAATGCTCCCACAAAGCTGAGTTGAATGCTTCCAGGCAATCTAGGTATCTACTTTTAAACCAACCTATCGGGAGTCTGTCTGTTTACTCTGACCTCAAACAAGGGCGCCTGATAATCCATCACTTACATACTTTTCTTAGTTTGGCTTTAGTAATCCTTTCCAGAAGAATGTACATAAATAAATAAATAAAATAAATAGGGTCTGAAGAATTGCATAAGCCCTCTTTGCACAACACTTGAAATAAATCTTAAAAAACTGGCTTTCAATCTCCTTCCATTTTAGAAACTATTTGAAAAAGCTAAAGAAACTAATATGACTCATTTAGGTGGTTTATTTTTATCCCCGTTTCTTTATCATTTTAAAAATAAAAGTTAAAAAAAAATGTAGATCCTGTTAGTATTCTCTTCTCCCTAATTTATCCCTTAAAAATTTGTTTAAACTAGTCCCATACTGAAACAAAAAATGGCCCAAATGAGACACTGTTAGACTCAAGGATGGGATGCAGATTGAGGTCTCTGGTCACTAGGGATTTGTTTGGCCAGGTTTCCTCAATGAATAATAATGAAGCACAATAGGAAAATGTAAATGTTAAGTCGCTGAAACTGCAGTACCAGCAGGGGAGAGTCCAGTTGCTGTCCTCAATTCCTCCAGCATTGATAAACAGTCTGCTTGGCTCCTTACAGATGTTGTCTATGAAGTCTAGAGTTACAAGTAACTATTTTCCAGCATGTAAAGGGATCCAGTCTTGTCCTTCAAAACAGCTTGGCCGCTTTCCCCAGGATACATGTAATTAAAAATATATATCCCTGCAAAAGCTGTTTCTCCAACAAATTGCCACTGATGTCAGGATATGTGCTGTTTCCAAACTGAGAGCTGGAGGATCATTTCTTAAGCTTTTATAACCTAGTTCTAAAGTTCTGAAACTTCCAAAGGGATATTTTAGCAGCAACAGGTCTAATCCCCACCATCTTTCCAAAACCACAAACCAAGTTTTAAAATGACCTATGTAAAAACATGCACCTAGTAAGTAAGCTGTATGTCTGTTTATTATCTCTCAGAAGTTACAGCCAGAACCACAGATTTCTTTTCTTTTCTTTTTTTTTTTGATACGGAGTTTCGCTCCTGTGGCCCAGGCTAGAGTGCAATGGTGCAATCCCCGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCACGCCACCACGCCCGGCTAATTTTTGTACTTTTAGTAGAGACAGGATTTCGCCATGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCGTGAGCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCAGAAACCAGATTTCTGAAGCCTGGACAACTAACGTCTACTTTTTCCCACAACTTCTCTCTTTTCTAAATTTCTAAAAATCACCCAGCCTCACCAACCCAAACATAACCAATGTTAACACTTTAAAAATTTTCCTGTCAGTCTTTTATTATCCCAATAAATTTTTTATTTTGCAGGATTATAATCACCCTGTATATGCAAATTCTTATTACTGTGGAATAAACATTTTCTCTATCATTAGATATGCTTTACATTTTTTAATGACTGCAAAAAAATTTCTTCCAATATACCAACCACCTTCCTGCAGCTTCTTCTCACCCTCCAAGCATTAAACGTGCCTTCAACTGTGAGGATAAGAAAGAACTCAAGCCAACCCAACCACTCCTTCATGCATGACCTCTAAAACGCTGCGGGACGTCGTGAGAAGGGGCTATTCAGCAGAAAAAGGTGCAGTAGTGTTTCATTTAATAACACCCCAAAAATAGTGGGGAGAAGGAAGTTCGGTGAAGGATGGTCTCCTTATCACTCCCTCCAAGTCTTAGCTGCAGCT
|
ACAAAAATTCTATAAAAATACCTTTTTTGAGTCATTAACATAAAATGAAGAAAACAGCAGCAGCCAAGAAGAGAGATGTTGAAATTTAAGAGAGGAAGACAGAGAAGAAAAATCCACTGGATACCTTATGTGTGTGAGTACAGTACTTTTGTTTGTTCAAATAACTGTTTTATGACAAAGGCACTGAAAGATTCTAACACCACTTCTTGGGAGTGCAGTCCACAAAGTTCTAAACAGCAGACAGCGCACCACAGAAGATGTTTATGTTACATCAGCCAAACTATAAAACTCTTGTAACACTTTTCTGAACCCAGCGTTTCCAGTGTTTATAGATTGCTTTGCTATCTGAAAGACCCAGTTAGTATTTAAAATGGTAAAGGGTTAAAAAAGTTAATATTTCTCCCTGCTAGTTACCAACTCACAGCTCAAATCCCACCCTGCAGGGGAAAACAGTATCGCCCTGGACTTCCTGGAATCTAGGCAGGACCTCCACGCTCCAAGCTGCAACCTGCTAAAGTGATCAACGTTTTGATTTTTCACAGCTTTGAAAGCCTCTAACTGGCTTTTCCATTTTGGATCATTCCAAAGTCTGCAGCAAAATCATTGGTTTTTTGATGCTGGGGTCGGGGTGGGAGGCAGTGGGTTGACGGGGGTCACTTAATTGTTGCTAGTTTGTTCAAACTGAGATTCACTGCATAAAACTTTTAGTAGAATTTCCTCCAAAATGCTGGCATTCCCCCCTTCAAAATGAAGAAAGCATGGAGGCTGACTAGCCTTATACCACAGTCTCACTGCCTTTTCCAGGCTTCACCCAACCATTTCCTCTCTTCTCTCTCTTTACCTTTCCAGAATTCACCAATCTGTTGGAACACTTCTGCCACGTGTGAAGAGTTTTGGCAGACCAAATCCACATGCCTGAAGTGATGCCCACCAACAAAGACATAAAAATTTTCAACATTTCAACAGCCATGTTGGAATCATCTGCAGAATACCGAAAAAGTGCCCAGTTGGAGATTTCATAAAAATAACAGGCAATCACACACGTTGCAGGAACTGTGTACAGTACTGAGAACACCCCAATCTTGACCATCAGTCTTTCTAACTTGTCTGTCTTTGTCCCATCCTTTTGAAGATTTGACCGAATTTTGAACAAGGCCACCAAACCTGCAGCAATGAACAAAGTTCCAATGACCAAATAAGTAAAGAGGGGAGCCACCACGAACCCGGTGAGGGCATCGAGATTTTGGTTTCCAACATAGCACAAGCCAGTCAGTTCATCTGCATCCACCAGTCTCATAATCAAGATGACAATGGTTTTCACTGCGGGGATGGCCCAGGCTGCAATGTGGAAATAAGAGCTGTGCATTTCAATGGCTTCATGACCCCATTTGAGTCCTGCTGCCAAAAACCAAGTGAGTGTCAGAATAACCCACCAAATGGAGCTGGCCATTCCAAAAAAGTACATCAGCAAGAAAATTATTGCACATCCTGTGTTCTTAAGTCCTTCTTGGATGAGAACAGGTTCTGCTGCCTCTTCAAAATCACAGGATATCCTTTCCCGGCCTACAGTCAGCCTGACAATATAAGCAATGCTATAAATATTATAGCACATACTGAGAAATATGATGGGGCGCTCAGGGTAGGAAAACCTAGAAGAATCGATCAGGAAGGTCAGTACTGTGAAGGCAGTGGAGATGAAACACAGGCTGGCCCACACAGCCATCCAGATATCAGTGAACTCCTTGGCTGAGCGGCTGTATAAGCCAGCATCATAGCCACACTTGAGCACACAGTTCAGGCTCCTTTTCACCCAGATGTACTGATCAGAATTGGTTCCCACAGAGTGACACTCTTCCCCAGGCTGGATGGGGGTTTTGTGAGGTAAGGGCACCTCTTCATCACCTGGCCCTTCCATGCACATGTGGTTGTGGTCGTTCTGTGGTGGGAATTTGCTGCAGTTCAGACTCTCTGGCCAGGCAAATCCAAATTCCTTCAGGACGGGTTCACAGCGTCTCTTGACTGAAAGACACATGCCGCCGCATGGGCCAGTGGGGATGTTGATCTTCTCTGTGCACATTGGCACATAAACAGAACAAAGGAAGAACTGGAAAAGTAACAAAATGAACACACACAAAAAAAACAATGACTTGGAAGTTTGACCAAATGCTCCCACAAAGCTGAGTTGAATGCTTCCAGGCAATCTAGGTATCTACTTTTAAACCAACCTATCGGGAGTCTGTCTGTTTACTCTGACCTCAAACAAGGGCGCCTGATAATCCATCACTTACATACTTTTCTTAGTTTGGCTTTAGTAATCCTTTCCAGAAGAATGTACATAAATAAATAAATAAAATAAATAGGGTCTGAAGAATTGCATAAGCCCTCTTTGCACAACACTTGAAATAAATCTTAAAAAACTGGCTTTCAATCTCCTTCCATTTTAGAAACTATTTGAAAAAGCTAAAGAAACTAATATGACTCATTTAGGTGGTTTATTTTTATCCCCGTTTCTTTATCATTTTAAAAATAAAAGTTAAAAAAAAATGTAGATCCTGTTAGTATTCTCTTCTCCCTAATTTATCCCTTAAAAATTTGTTTAAACTAGTCCCATACTGAAACAAAAAATGGCCCAAATGAGACACTGTTAGACTCAAGGATGGGATGCAGATTGAGGTCTCTGGTCACTAGGGATTTGTTTGGCCAGGTTTCCTCAATGAATAATAATGAAGCACAATAGGAAAATGTAAATGTTAAGTCGCTGAAACTGCAGTACCAGCAGGGGAGAGTCCAGTTGCTGTCCTCAATTCCTCCAGCATTGATAAACAGTCTGCTTGGCTCCTTACAGATGTTGTCTATGAAGTCTAGAGTTACAAGTAACTATTTTCCAGCATGTAAAGGGATCCAGTCTTGTCCTTCAAAACAGCTTGGCCGCTTTCCCCAGGATACATGTAATTAAAAATATATATCCCTGCAAAAGCTGTTTCTCCAACAAATTGCCACTGATGTCAGGATATGTGCTGTTTCCAAACTGAGAGCTGGAGGATCATTTCTTAAGCTTTTATAACCTAGTTCTAAAGTTCTGAAACTTCCAAAGGGATATTTTAGCAGCAACAGGTCTAATCCCCACCATCTTTCCAAAACCACAAACCAAGTTTTAAAATGACCTATGTAAAAACATGCACCTAGTAAGTAAGCTGTATGTCTGTTTATTATCTCTCAGAAGTTACAGCCAGAACCACAGATTTCTTTTCTTTTCTTTTTTTTTTTGATACGGAGTTTCGCTCCTGTGGCCCAGGCTAGAGTGCAATGGTGCAATCCCCGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCACGCCACCACGCCCGGCTAATTTTTGTACTTTTAGTAGAGACAGGATTTCGCCATGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCGTGAGCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCAGAAACCAGATTTCTGAAGCCTGGACAACTAACGTCTACTTTTTCCCACAACTTCTCTCTTTTCTAAATTTCTAAAAATCACCCAGCCTCACCAACCCAAACATAACCAATGTTAACACTTTAAAAATTTTCCTGTCAGTCTTTTATTATCCCAATAAATTTTTTATTTTGCAGGATTATAATCACCCTGTATATGCAAATTCTTATTACTGTGGAATAAACATTTTCTCTATCATTAGATATGCTTTACATTTTTTAATGACTGCAAAAAAATTTCTTCCAATATACCAACCACCTTCCTGCAGCTTCTTCTCACCCTCCAAGCATTAAACGTGCCTTCAACTGTGAGGATAAGAAAGAACTCAAGCCAACCCAACCACTCCTTCATGCATGACCTCTAAAACGCTGCGGGACGTCGTGAGAAGGGGCTATTCAGCAGAAAAAGGTGCAGTAGTGTTTCATTTAATAACACCCCAAAAATAGTGGGGAGAAGGAAGTTCGGTGAAGGATGGTCTCCTTATCACTCCCTCCAAGTCTTAGCTGCAGCT
|
Task1_train_16394
|
Mutation context: Chromosome 11, Gene FZD4, PRSS23 (frizzled class receptor 4| serine protease 23). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
|
Pathogenic; Exudative vitreoretinopathy 1
|
GAGTCATTAACATAAAATGAAGAAAACAGCAGCAGCCAAGAAGAGAGATGTTGAAATTTAAGAGAGGAAGACAGAGAAGAAAAATCCACTGGATACCTTATGTGTGTGAGTACAGTACTTTTGTTTGTTCAAATAACTGTTTTATGACAAAGGCACTGAAAGATTCTAACACCACTTCTTGGGAGTGCAGTCCACAAAGTTCTAAACAGCAGACAGCGCACCACAGAAGATGTTTATGTTACATCAGCCAAACTATAAAACTCTTGTAACACTTTTCTGAACCCAGCGTTTCCAGTGTTTATAGATTGCTTTGCTATCTGAAAGACCCAGTTAGTATTTAAAATGGTAAAGGGTTAAAAAAGTTAATATTTCTCCCTGCTAGTTACCAACTCACAGCTCAAATCCCACCCTGCAGGGGAAAACAGTATCGCCCTGGACTTCCTGGAATCTAGGCAGGACCTCCACGCTCCAAGCTGCAACCTGCTAAAGTGATCAACGTTTTGATTTTTCACAGCTTTGAAAGCCTCTAACTGGCTTTTCCATTTTGGATCATTCCAAAGTCTGCAGCAAAATCATTGGTTTTTTGATGCTGGGGTCGGGGTGGGAGGCAGTGGGTTGACGGGGGTCACTTAATTGTTGCTAGTTTGTTCAAACTGAGATTCACTGCATAAAACTTTTAGTAGAATTTCCTCCAAAATGCTGGCATTCCCCCCTTCAAAATGAAGAAAGCATGGAGGCTGACTAGCCTTATACCACAGTCTCACTGCCTTTTCCAGGCTTCACCCAACCATTTCCTCTCTTCTCTCTCTTTACCTTTCCAGAATTCACCAATCTGTTGGAACACTTCTGCCACGTGTGAAGAGTTTTGGCAGACCAAATCCACATGCCTGAAGTGATGCCCACCAACAAAGACATAAAAATTTTCAACATTTCAACAGCCATGTTGGAATCATCTGCAGAATACCGAAAAAGTGCCCAGTTGGAGATTTCATAAAAATAACAGGCAATCACACACGTTGCAGGAACTGTGTACAGTACTGAGAACACCCCAATCTTGACCATCAGTCTTTCTAACTTGTCTGTCTTTGTCCCATCCTTTTGAAGATTTGACCGAATTTTGAACAAGGCCACCAAACCTGCAGCAATGAACAAAGTTCCAATGACCAAATAAGTAAAGAGGGGAGCCACCACGAACCCGGTGAGGGCATCGAGATTTTGGTTTCCAACATAGCACAAGCCAGTCAGTTCATCTGCATCCACCAGTCTCATAATCAAGATGACAATGGTTTTCACTGCGGGGATGGCCCAGGCTGCAATGTGGAAATAAGAGCTGTGCATTTCAATGGCTTCATGACCCCATTTGAGTCCTGCTGCCAAAAACCAAGTGAGTGTCAGAATAACCCACCAAATGGAGCTGGCCATTCCAAAAAAGTACATCAGCAAGAAAATTATTGCACATCCTGTGTTCTTAAGTCCTTCTTGGATGAGAACAGGTTCTGCTGCCTCTTCAAAATCACAGGATATCCTTTCCCGGCCTACAGTCAGCCTGACAATATAAGCAATGCTATAAATATTATAGCACATACTGAGAAATATGATGGGGCGCTCAGGGTAGGAAAACCTAGAAGAATCGATCAGGAAGGTCAGTACTGTGAAGGCAGTGGAGATGAAACACAGGCTGGCCCACACAGCCATCCAGATATCAGTGAACTCCTTGGCTGAGCGGCTGTATAAGCCAGCATCATAGCCACACTTGAGCACACAGTTCAGGCTCCTTTTCACCCAGATGTACTGATCAGAATTGGTTCCCACAGAGTGACACTCTTCCCCAGGCTGGATGGGGGTTTTGTGAGGTAAGGGCACCTCTTCATCACCTGGCCCTTCCATGCACATGTGGTTGTGGTCGTTCTGTGGTGGGAATTTGCTGCAGTTCAGACTCTCTGGCCAGGCAAATCCAAATTCCTTCAGGACGGGTTCACAGCGTCTCTTGACTGAAAGACACATGCCGCCGCATGGGCCAATGGGGATGTTGATCTTCTCTGTGCACATTGGCACATAAACAGAACAAAGGAAGAACTGGAAAAGTAACAAAATGAACACACACAAAAAAAACAATGACTTGGAAGTTTGACCAAATGCTCCCACAAAGCTGAGTTGAATGCTTCCAGGCAATCTAGGTATCTACTTTTAAACCAACCTATCGGGAGTCTGTCTGTTTACTCTGACCTCAAACAAGGGCGCCTGATAATCCATCACTTACATACTTTTCTTAGTTTGGCTTTAGTAATCCTTTCCAGAAGAATGTACATAAATAAATAAATAAAATAAATAGGGTCTGAAGAATTGCATAAGCCCTCTTTGCACAACACTTGAAATAAATCTTAAAAAACTGGCTTTCAATCTCCTTCCATTTTAGAAACTATTTGAAAAAGCTAAAGAAACTAATATGACTCATTTAGGTGGTTTATTTTTATCCCCGTTTCTTTATCATTTTAAAAATAAAAGTTAAAAAAAAATGTAGATCCTGTTAGTATTCTCTTCTCCCTAATTTATCCCTTAAAAATTTGTTTAAACTAGTCCCATACTGAAACAAAAAATGGCCCAAATGAGACACTGTTAGACTCAAGGATGGGATGCAGATTGAGGTCTCTGGTCACTAGGGATTTGTTTGGCCAGGTTTCCTCAATGAATAATAATGAAGCACAATAGGAAAATGTAAATGTTAAGTCGCTGAAACTGCAGTACCAGCAGGGGAGAGTCCAGTTGCTGTCCTCAATTCCTCCAGCATTGATAAACAGTCTGCTTGGCTCCTTACAGATGTTGTCTATGAAGTCTAGAGTTACAAGTAACTATTTTCCAGCATGTAAAGGGATCCAGTCTTGTCCTTCAAAACAGCTTGGCCGCTTTCCCCAGGATACATGTAATTAAAAATATATATCCCTGCAAAAGCTGTTTCTCCAACAAATTGCCACTGATGTCAGGATATGTGCTGTTTCCAAACTGAGAGCTGGAGGATCATTTCTTAAGCTTTTATAACCTAGTTCTAAAGTTCTGAAACTTCCAAAGGGATATTTTAGCAGCAACAGGTCTAATCCCCACCATCTTTCCAAAACCACAAACCAAGTTTTAAAATGACCTATGTAAAAACATGCACCTAGTAAGTAAGCTGTATGTCTGTTTATTATCTCTCAGAAGTTACAGCCAGAACCACAGATTTCTTTTCTTTTCTTTTTTTTTTTGATACGGAGTTTCGCTCCTGTGGCCCAGGCTAGAGTGCAATGGTGCAATCCCCGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCACGCCACCACGCCCGGCTAATTTTTGTACTTTTAGTAGAGACAGGATTTCGCCATGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCGTGAGCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCAGAAACCAGATTTCTGAAGCCTGGACAACTAACGTCTACTTTTTCCCACAACTTCTCTCTTTTCTAAATTTCTAAAAATCACCCAGCCTCACCAACCCAAACATAACCAATGTTAACACTTTAAAAATTTTCCTGTCAGTCTTTTATTATCCCAATAAATTTTTTATTTTGCAGGATTATAATCACCCTGTATATGCAAATTCTTATTACTGTGGAATAAACATTTTCTCTATCATTAGATATGCTTTACATTTTTTAATGACTGCAAAAAAATTTCTTCCAATATACCAACCACCTTCCTGCAGCTTCTTCTCACCCTCCAAGCATTAAACGTGCCTTCAACTGTGAGGATAAGAAAGAACTCAAGCCAACCCAACCACTCCTTCATGCATGACCTCTAAAACGCTGCGGGACGTCGTGAGAAGGGGCTATTCAGCAGAAAAAGGTGCAGTAGTGTTTCATTTAATAACACCCCAAAAATAGTGGGGAGAAGGAAGTTCGGTGAAGGATGGTCTCCTTATCACTCCCTCCAAGTCTTAGCTGCAGCTGGCTCCCTCCCACTCGCCCACCGAGCAG
|
GAGTCATTAACATAAAATGAAGAAAACAGCAGCAGCCAAGAAGAGAGATGTTGAAATTTAAGAGAGGAAGACAGAGAAGAAAAATCCACTGGATACCTTATGTGTGTGAGTACAGTACTTTTGTTTGTTCAAATAACTGTTTTATGACAAAGGCACTGAAAGATTCTAACACCACTTCTTGGGAGTGCAGTCCACAAAGTTCTAAACAGCAGACAGCGCACCACAGAAGATGTTTATGTTACATCAGCCAAACTATAAAACTCTTGTAACACTTTTCTGAACCCAGCGTTTCCAGTGTTTATAGATTGCTTTGCTATCTGAAAGACCCAGTTAGTATTTAAAATGGTAAAGGGTTAAAAAAGTTAATATTTCTCCCTGCTAGTTACCAACTCACAGCTCAAATCCCACCCTGCAGGGGAAAACAGTATCGCCCTGGACTTCCTGGAATCTAGGCAGGACCTCCACGCTCCAAGCTGCAACCTGCTAAAGTGATCAACGTTTTGATTTTTCACAGCTTTGAAAGCCTCTAACTGGCTTTTCCATTTTGGATCATTCCAAAGTCTGCAGCAAAATCATTGGTTTTTTGATGCTGGGGTCGGGGTGGGAGGCAGTGGGTTGACGGGGGTCACTTAATTGTTGCTAGTTTGTTCAAACTGAGATTCACTGCATAAAACTTTTAGTAGAATTTCCTCCAAAATGCTGGCATTCCCCCCTTCAAAATGAAGAAAGCATGGAGGCTGACTAGCCTTATACCACAGTCTCACTGCCTTTTCCAGGCTTCACCCAACCATTTCCTCTCTTCTCTCTCTTTACCTTTCCAGAATTCACCAATCTGTTGGAACACTTCTGCCACGTGTGAAGAGTTTTGGCAGACCAAATCCACATGCCTGAAGTGATGCCCACCAACAAAGACATAAAAATTTTCAACATTTCAACAGCCATGTTGGAATCATCTGCAGAATACCGAAAAAGTGCCCAGTTGGAGATTTCATAAAAATAACAGGCAATCACACACGTTGCAGGAACTGTGTACAGTACTGAGAACACCCCAATCTTGACCATCAGTCTTTCTAACTTGTCTGTCTTTGTCCCATCCTTTTGAAGATTTGACCGAATTTTGAACAAGGCCACCAAACCTGCAGCAATGAACAAAGTTCCAATGACCAAATAAGTAAAGAGGGGAGCCACCACGAACCCGGTGAGGGCATCGAGATTTTGGTTTCCAACATAGCACAAGCCAGTCAGTTCATCTGCATCCACCAGTCTCATAATCAAGATGACAATGGTTTTCACTGCGGGGATGGCCCAGGCTGCAATGTGGAAATAAGAGCTGTGCATTTCAATGGCTTCATGACCCCATTTGAGTCCTGCTGCCAAAAACCAAGTGAGTGTCAGAATAACCCACCAAATGGAGCTGGCCATTCCAAAAAAGTACATCAGCAAGAAAATTATTGCACATCCTGTGTTCTTAAGTCCTTCTTGGATGAGAACAGGTTCTGCTGCCTCTTCAAAATCACAGGATATCCTTTCCCGGCCTACAGTCAGCCTGACAATATAAGCAATGCTATAAATATTATAGCACATACTGAGAAATATGATGGGGCGCTCAGGGTAGGAAAACCTAGAAGAATCGATCAGGAAGGTCAGTACTGTGAAGGCAGTGGAGATGAAACACAGGCTGGCCCACACAGCCATCCAGATATCAGTGAACTCCTTGGCTGAGCGGCTGTATAAGCCAGCATCATAGCCACACTTGAGCACACAGTTCAGGCTCCTTTTCACCCAGATGTACTGATCAGAATTGGTTCCCACAGAGTGACACTCTTCCCCAGGCTGGATGGGGGTTTTGTGAGGTAAGGGCACCTCTTCATCACCTGGCCCTTCCATGCACATGTGGTTGTGGTCGTTCTGTGGTGGGAATTTGCTGCAGTTCAGACTCTCTGGCCAGGCAAATCCAAATTCCTTCAGGACGGGTTCACAGCGTCTCTTGACTGAAAGACACATGCCGCCGCATGGGCCAATGGGGATGTTGATCTTCTCTGTGCACACTGGCACATAAACAGAACAAAGGAAGAACTGGAAAAGTAACAAAATGAACACACACAAAAAAAACAATGACTTGGAAGTTTGACCAAATGCTCCCACAAAGCTGAGTTGAATGCTTCCAGGCAATCTAGGTATCTACTTTTAAACCAACCTATCGGGAGTCTGTCTGTTTACTCTGACCTCAAACAAGGGCGCCTGATAATCCATCACTTACATACTTTTCTTAGTTTGGCTTTAGTAATCCTTTCCAGAAGAATGTACATAAATAAATAAATAAAATAAATAGGGTCTGAAGAATTGCATAAGCCCTCTTTGCACAACACTTGAAATAAATCTTAAAAAACTGGCTTTCAATCTCCTTCCATTTTAGAAACTATTTGAAAAAGCTAAAGAAACTAATATGACTCATTTAGGTGGTTTATTTTTATCCCCGTTTCTTTATCATTTTAAAAATAAAAGTTAAAAAAAAATGTAGATCCTGTTAGTATTCTCTTCTCCCTAATTTATCCCTTAAAAATTTGTTTAAACTAGTCCCATACTGAAACAAAAAATGGCCCAAATGAGACACTGTTAGACTCAAGGATGGGATGCAGATTGAGGTCTCTGGTCACTAGGGATTTGTTTGGCCAGGTTTCCTCAATGAATAATAATGAAGCACAATAGGAAAATGTAAATGTTAAGTCGCTGAAACTGCAGTACCAGCAGGGGAGAGTCCAGTTGCTGTCCTCAATTCCTCCAGCATTGATAAACAGTCTGCTTGGCTCCTTACAGATGTTGTCTATGAAGTCTAGAGTTACAAGTAACTATTTTCCAGCATGTAAAGGGATCCAGTCTTGTCCTTCAAAACAGCTTGGCCGCTTTCCCCAGGATACATGTAATTAAAAATATATATCCCTGCAAAAGCTGTTTCTCCAACAAATTGCCACTGATGTCAGGATATGTGCTGTTTCCAAACTGAGAGCTGGAGGATCATTTCTTAAGCTTTTATAACCTAGTTCTAAAGTTCTGAAACTTCCAAAGGGATATTTTAGCAGCAACAGGTCTAATCCCCACCATCTTTCCAAAACCACAAACCAAGTTTTAAAATGACCTATGTAAAAACATGCACCTAGTAAGTAAGCTGTATGTCTGTTTATTATCTCTCAGAAGTTACAGCCAGAACCACAGATTTCTTTTCTTTTCTTTTTTTTTTTGATACGGAGTTTCGCTCCTGTGGCCCAGGCTAGAGTGCAATGGTGCAATCCCCGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCACGCCACCACGCCCGGCTAATTTTTGTACTTTTAGTAGAGACAGGATTTCGCCATGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCGTGAGCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCAGAAACCAGATTTCTGAAGCCTGGACAACTAACGTCTACTTTTTCCCACAACTTCTCTCTTTTCTAAATTTCTAAAAATCACCCAGCCTCACCAACCCAAACATAACCAATGTTAACACTTTAAAAATTTTCCTGTCAGTCTTTTATTATCCCAATAAATTTTTTATTTTGCAGGATTATAATCACCCTGTATATGCAAATTCTTATTACTGTGGAATAAACATTTTCTCTATCATTAGATATGCTTTACATTTTTTAATGACTGCAAAAAAATTTCTTCCAATATACCAACCACCTTCCTGCAGCTTCTTCTCACCCTCCAAGCATTAAACGTGCCTTCAACTGTGAGGATAAGAAAGAACTCAAGCCAACCCAACCACTCCTTCATGCATGACCTCTAAAACGCTGCGGGACGTCGTGAGAAGGGGCTATTCAGCAGAAAAAGGTGCAGTAGTGTTTCATTTAATAACACCCCAAAAATAGTGGGGAGAAGGAAGTTCGGTGAAGGATGGTCTCCTTATCACTCCCTCCAAGTCTTAGCTGCAGCTGGCTCCCTCCCACTCGCCCACCGAGCAG
|
Task1_train_16395
|
A change on Chromosome 11 affects gene FZD4, PRSS23 (frizzled class receptor 4| serine protease 23). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
|
Pathogenic; Retinal dystrophy
|
GAGTCATTAACATAAAATGAAGAAAACAGCAGCAGCCAAGAAGAGAGATGTTGAAATTTAAGAGAGGAAGACAGAGAAGAAAAATCCACTGGATACCTTATGTGTGTGAGTACAGTACTTTTGTTTGTTCAAATAACTGTTTTATGACAAAGGCACTGAAAGATTCTAACACCACTTCTTGGGAGTGCAGTCCACAAAGTTCTAAACAGCAGACAGCGCACCACAGAAGATGTTTATGTTACATCAGCCAAACTATAAAACTCTTGTAACACTTTTCTGAACCCAGCGTTTCCAGTGTTTATAGATTGCTTTGCTATCTGAAAGACCCAGTTAGTATTTAAAATGGTAAAGGGTTAAAAAAGTTAATATTTCTCCCTGCTAGTTACCAACTCACAGCTCAAATCCCACCCTGCAGGGGAAAACAGTATCGCCCTGGACTTCCTGGAATCTAGGCAGGACCTCCACGCTCCAAGCTGCAACCTGCTAAAGTGATCAACGTTTTGATTTTTCACAGCTTTGAAAGCCTCTAACTGGCTTTTCCATTTTGGATCATTCCAAAGTCTGCAGCAAAATCATTGGTTTTTTGATGCTGGGGTCGGGGTGGGAGGCAGTGGGTTGACGGGGGTCACTTAATTGTTGCTAGTTTGTTCAAACTGAGATTCACTGCATAAAACTTTTAGTAGAATTTCCTCCAAAATGCTGGCATTCCCCCCTTCAAAATGAAGAAAGCATGGAGGCTGACTAGCCTTATACCACAGTCTCACTGCCTTTTCCAGGCTTCACCCAACCATTTCCTCTCTTCTCTCTCTTTACCTTTCCAGAATTCACCAATCTGTTGGAACACTTCTGCCACGTGTGAAGAGTTTTGGCAGACCAAATCCACATGCCTGAAGTGATGCCCACCAACAAAGACATAAAAATTTTCAACATTTCAACAGCCATGTTGGAATCATCTGCAGAATACCGAAAAAGTGCCCAGTTGGAGATTTCATAAAAATAACAGGCAATCACACACGTTGCAGGAACTGTGTACAGTACTGAGAACACCCCAATCTTGACCATCAGTCTTTCTAACTTGTCTGTCTTTGTCCCATCCTTTTGAAGATTTGACCGAATTTTGAACAAGGCCACCAAACCTGCAGCAATGAACAAAGTTCCAATGACCAAATAAGTAAAGAGGGGAGCCACCACGAACCCGGTGAGGGCATCGAGATTTTGGTTTCCAACATAGCACAAGCCAGTCAGTTCATCTGCATCCACCAGTCTCATAATCAAGATGACAATGGTTTTCACTGCGGGGATGGCCCAGGCTGCAATGTGGAAATAAGAGCTGTGCATTTCAATGGCTTCATGACCCCATTTGAGTCCTGCTGCCAAAAACCAAGTGAGTGTCAGAATAACCCACCAAATGGAGCTGGCCATTCCAAAAAAGTACATCAGCAAGAAAATTATTGCACATCCTGTGTTCTTAAGTCCTTCTTGGATGAGAACAGGTTCTGCTGCCTCTTCAAAATCACAGGATATCCTTTCCCGGCCTACAGTCAGCCTGACAATATAAGCAATGCTATAAATATTATAGCACATACTGAGAAATATGATGGGGCGCTCAGGGTAGGAAAACCTAGAAGAATCGATCAGGAAGGTCAGTACTGTGAAGGCAGTGGAGATGAAACACAGGCTGGCCCACACAGCCATCCAGATATCAGTGAACTCCTTGGCTGAGCGGCTGTATAAGCCAGCATCATAGCCACACTTGAGCACACAGTTCAGGCTCCTTTTCACCCAGATGTACTGATCAGAATTGGTTCCCACAGAGTGACACTCTTCCCCAGGCTGGATGGGGGTTTTGTGAGGTAAGGGCACCTCTTCATCACCTGGCCCTTCCATGCACATGTGGTTGTGGTCGTTCTGTGGTGGGAATTTGCTGCAGTTCAGACTCTCTGGCCAGGCAAATCCAAATTCCTTCAGGACGGGTTCACAGCGTCTCTTGACTGAAAGACACATGCCGCCGCATGGGCCAATGGGGATGTTGATCTTCTCTGTGCACATTGGCACATAAACAGAACAAAGGAAGAACTGGAAAAGTAACAAAATGAACACACACAAAAAAAACAATGACTTGGAAGTTTGACCAAATGCTCCCACAAAGCTGAGTTGAATGCTTCCAGGCAATCTAGGTATCTACTTTTAAACCAACCTATCGGGAGTCTGTCTGTTTACTCTGACCTCAAACAAGGGCGCCTGATAATCCATCACTTACATACTTTTCTTAGTTTGGCTTTAGTAATCCTTTCCAGAAGAATGTACATAAATAAATAAATAAAATAAATAGGGTCTGAAGAATTGCATAAGCCCTCTTTGCACAACACTTGAAATAAATCTTAAAAAACTGGCTTTCAATCTCCTTCCATTTTAGAAACTATTTGAAAAAGCTAAAGAAACTAATATGACTCATTTAGGTGGTTTATTTTTATCCCCGTTTCTTTATCATTTTAAAAATAAAAGTTAAAAAAAAATGTAGATCCTGTTAGTATTCTCTTCTCCCTAATTTATCCCTTAAAAATTTGTTTAAACTAGTCCCATACTGAAACAAAAAATGGCCCAAATGAGACACTGTTAGACTCAAGGATGGGATGCAGATTGAGGTCTCTGGTCACTAGGGATTTGTTTGGCCAGGTTTCCTCAATGAATAATAATGAAGCACAATAGGAAAATGTAAATGTTAAGTCGCTGAAACTGCAGTACCAGCAGGGGAGAGTCCAGTTGCTGTCCTCAATTCCTCCAGCATTGATAAACAGTCTGCTTGGCTCCTTACAGATGTTGTCTATGAAGTCTAGAGTTACAAGTAACTATTTTCCAGCATGTAAAGGGATCCAGTCTTGTCCTTCAAAACAGCTTGGCCGCTTTCCCCAGGATACATGTAATTAAAAATATATATCCCTGCAAAAGCTGTTTCTCCAACAAATTGCCACTGATGTCAGGATATGTGCTGTTTCCAAACTGAGAGCTGGAGGATCATTTCTTAAGCTTTTATAACCTAGTTCTAAAGTTCTGAAACTTCCAAAGGGATATTTTAGCAGCAACAGGTCTAATCCCCACCATCTTTCCAAAACCACAAACCAAGTTTTAAAATGACCTATGTAAAAACATGCACCTAGTAAGTAAGCTGTATGTCTGTTTATTATCTCTCAGAAGTTACAGCCAGAACCACAGATTTCTTTTCTTTTCTTTTTTTTTTTGATACGGAGTTTCGCTCCTGTGGCCCAGGCTAGAGTGCAATGGTGCAATCCCCGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCACGCCACCACGCCCGGCTAATTTTTGTACTTTTAGTAGAGACAGGATTTCGCCATGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCGTGAGCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCAGAAACCAGATTTCTGAAGCCTGGACAACTAACGTCTACTTTTTCCCACAACTTCTCTCTTTTCTAAATTTCTAAAAATCACCCAGCCTCACCAACCCAAACATAACCAATGTTAACACTTTAAAAATTTTCCTGTCAGTCTTTTATTATCCCAATAAATTTTTTATTTTGCAGGATTATAATCACCCTGTATATGCAAATTCTTATTACTGTGGAATAAACATTTTCTCTATCATTAGATATGCTTTACATTTTTTAATGACTGCAAAAAAATTTCTTCCAATATACCAACCACCTTCCTGCAGCTTCTTCTCACCCTCCAAGCATTAAACGTGCCTTCAACTGTGAGGATAAGAAAGAACTCAAGCCAACCCAACCACTCCTTCATGCATGACCTCTAAAACGCTGCGGGACGTCGTGAGAAGGGGCTATTCAGCAGAAAAAGGTGCAGTAGTGTTTCATTTAATAACACCCCAAAAATAGTGGGGAGAAGGAAGTTCGGTGAAGGATGGTCTCCTTATCACTCCCTCCAAGTCTTAGCTGCAGCTGGCTCCCTCCCACTCGCCCACCGAGCAG
|
GAGTCATTAACATAAAATGAAGAAAACAGCAGCAGCCAAGAAGAGAGATGTTGAAATTTAAGAGAGGAAGACAGAGAAGAAAAATCCACTGGATACCTTATGTGTGTGAGTACAGTACTTTTGTTTGTTCAAATAACTGTTTTATGACAAAGGCACTGAAAGATTCTAACACCACTTCTTGGGAGTGCAGTCCACAAAGTTCTAAACAGCAGACAGCGCACCACAGAAGATGTTTATGTTACATCAGCCAAACTATAAAACTCTTGTAACACTTTTCTGAACCCAGCGTTTCCAGTGTTTATAGATTGCTTTGCTATCTGAAAGACCCAGTTAGTATTTAAAATGGTAAAGGGTTAAAAAAGTTAATATTTCTCCCTGCTAGTTACCAACTCACAGCTCAAATCCCACCCTGCAGGGGAAAACAGTATCGCCCTGGACTTCCTGGAATCTAGGCAGGACCTCCACGCTCCAAGCTGCAACCTGCTAAAGTGATCAACGTTTTGATTTTTCACAGCTTTGAAAGCCTCTAACTGGCTTTTCCATTTTGGATCATTCCAAAGTCTGCAGCAAAATCATTGGTTTTTTGATGCTGGGGTCGGGGTGGGAGGCAGTGGGTTGACGGGGGTCACTTAATTGTTGCTAGTTTGTTCAAACTGAGATTCACTGCATAAAACTTTTAGTAGAATTTCCTCCAAAATGCTGGCATTCCCCCCTTCAAAATGAAGAAAGCATGGAGGCTGACTAGCCTTATACCACAGTCTCACTGCCTTTTCCAGGCTTCACCCAACCATTTCCTCTCTTCTCTCTCTTTACCTTTCCAGAATTCACCAATCTGTTGGAACACTTCTGCCACGTGTGAAGAGTTTTGGCAGACCAAATCCACATGCCTGAAGTGATGCCCACCAACAAAGACATAAAAATTTTCAACATTTCAACAGCCATGTTGGAATCATCTGCAGAATACCGAAAAAGTGCCCAGTTGGAGATTTCATAAAAATAACAGGCAATCACACACGTTGCAGGAACTGTGTACAGTACTGAGAACACCCCAATCTTGACCATCAGTCTTTCTAACTTGTCTGTCTTTGTCCCATCCTTTTGAAGATTTGACCGAATTTTGAACAAGGCCACCAAACCTGCAGCAATGAACAAAGTTCCAATGACCAAATAAGTAAAGAGGGGAGCCACCACGAACCCGGTGAGGGCATCGAGATTTTGGTTTCCAACATAGCACAAGCCAGTCAGTTCATCTGCATCCACCAGTCTCATAATCAAGATGACAATGGTTTTCACTGCGGGGATGGCCCAGGCTGCAATGTGGAAATAAGAGCTGTGCATTTCAATGGCTTCATGACCCCATTTGAGTCCTGCTGCCAAAAACCAAGTGAGTGTCAGAATAACCCACCAAATGGAGCTGGCCATTCCAAAAAAGTACATCAGCAAGAAAATTATTGCACATCCTGTGTTCTTAAGTCCTTCTTGGATGAGAACAGGTTCTGCTGCCTCTTCAAAATCACAGGATATCCTTTCCCGGCCTACAGTCAGCCTGACAATATAAGCAATGCTATAAATATTATAGCACATACTGAGAAATATGATGGGGCGCTCAGGGTAGGAAAACCTAGAAGAATCGATCAGGAAGGTCAGTACTGTGAAGGCAGTGGAGATGAAACACAGGCTGGCCCACACAGCCATCCAGATATCAGTGAACTCCTTGGCTGAGCGGCTGTATAAGCCAGCATCATAGCCACACTTGAGCACACAGTTCAGGCTCCTTTTCACCCAGATGTACTGATCAGAATTGGTTCCCACAGAGTGACACTCTTCCCCAGGCTGGATGGGGGTTTTGTGAGGTAAGGGCACCTCTTCATCACCTGGCCCTTCCATGCACATGTGGTTGTGGTCGTTCTGTGGTGGGAATTTGCTGCAGTTCAGACTCTCTGGCCAGGCAAATCCAAATTCCTTCAGGACGGGTTCACAGCGTCTCTTGACTGAAAGACACATGCCGCCGCATGGGCCAATGGGGATGTTGATCTTCTCTGTGCACACTGGCACATAAACAGAACAAAGGAAGAACTGGAAAAGTAACAAAATGAACACACACAAAAAAAACAATGACTTGGAAGTTTGACCAAATGCTCCCACAAAGCTGAGTTGAATGCTTCCAGGCAATCTAGGTATCTACTTTTAAACCAACCTATCGGGAGTCTGTCTGTTTACTCTGACCTCAAACAAGGGCGCCTGATAATCCATCACTTACATACTTTTCTTAGTTTGGCTTTAGTAATCCTTTCCAGAAGAATGTACATAAATAAATAAATAAAATAAATAGGGTCTGAAGAATTGCATAAGCCCTCTTTGCACAACACTTGAAATAAATCTTAAAAAACTGGCTTTCAATCTCCTTCCATTTTAGAAACTATTTGAAAAAGCTAAAGAAACTAATATGACTCATTTAGGTGGTTTATTTTTATCCCCGTTTCTTTATCATTTTAAAAATAAAAGTTAAAAAAAAATGTAGATCCTGTTAGTATTCTCTTCTCCCTAATTTATCCCTTAAAAATTTGTTTAAACTAGTCCCATACTGAAACAAAAAATGGCCCAAATGAGACACTGTTAGACTCAAGGATGGGATGCAGATTGAGGTCTCTGGTCACTAGGGATTTGTTTGGCCAGGTTTCCTCAATGAATAATAATGAAGCACAATAGGAAAATGTAAATGTTAAGTCGCTGAAACTGCAGTACCAGCAGGGGAGAGTCCAGTTGCTGTCCTCAATTCCTCCAGCATTGATAAACAGTCTGCTTGGCTCCTTACAGATGTTGTCTATGAAGTCTAGAGTTACAAGTAACTATTTTCCAGCATGTAAAGGGATCCAGTCTTGTCCTTCAAAACAGCTTGGCCGCTTTCCCCAGGATACATGTAATTAAAAATATATATCCCTGCAAAAGCTGTTTCTCCAACAAATTGCCACTGATGTCAGGATATGTGCTGTTTCCAAACTGAGAGCTGGAGGATCATTTCTTAAGCTTTTATAACCTAGTTCTAAAGTTCTGAAACTTCCAAAGGGATATTTTAGCAGCAACAGGTCTAATCCCCACCATCTTTCCAAAACCACAAACCAAGTTTTAAAATGACCTATGTAAAAACATGCACCTAGTAAGTAAGCTGTATGTCTGTTTATTATCTCTCAGAAGTTACAGCCAGAACCACAGATTTCTTTTCTTTTCTTTTTTTTTTTGATACGGAGTTTCGCTCCTGTGGCCCAGGCTAGAGTGCAATGGTGCAATCCCCGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCACGCCACCACGCCCGGCTAATTTTTGTACTTTTAGTAGAGACAGGATTTCGCCATGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCGTGAGCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCAGAAACCAGATTTCTGAAGCCTGGACAACTAACGTCTACTTTTTCCCACAACTTCTCTCTTTTCTAAATTTCTAAAAATCACCCAGCCTCACCAACCCAAACATAACCAATGTTAACACTTTAAAAATTTTCCTGTCAGTCTTTTATTATCCCAATAAATTTTTTATTTTGCAGGATTATAATCACCCTGTATATGCAAATTCTTATTACTGTGGAATAAACATTTTCTCTATCATTAGATATGCTTTACATTTTTTAATGACTGCAAAAAAATTTCTTCCAATATACCAACCACCTTCCTGCAGCTTCTTCTCACCCTCCAAGCATTAAACGTGCCTTCAACTGTGAGGATAAGAAAGAACTCAAGCCAACCCAACCACTCCTTCATGCATGACCTCTAAAACGCTGCGGGACGTCGTGAGAAGGGGCTATTCAGCAGAAAAAGGTGCAGTAGTGTTTCATTTAATAACACCCCAAAAATAGTGGGGAGAAGGAAGTTCGGTGAAGGATGGTCTCCTTATCACTCCCTCCAAGTCTTAGCTGCAGCTGGCTCCCTCCCACTCGCCCACCGAGCAG
|
Task1_train_16396
|
Here is a variant affecting FZD4, PRSS23 (frizzled class receptor 4| serine protease 23) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder.
|
Pathogenic; Atrophia bulborum hereditaria
|
GAGTCATTAACATAAAATGAAGAAAACAGCAGCAGCCAAGAAGAGAGATGTTGAAATTTAAGAGAGGAAGACAGAGAAGAAAAATCCACTGGATACCTTATGTGTGTGAGTACAGTACTTTTGTTTGTTCAAATAACTGTTTTATGACAAAGGCACTGAAAGATTCTAACACCACTTCTTGGGAGTGCAGTCCACAAAGTTCTAAACAGCAGACAGCGCACCACAGAAGATGTTTATGTTACATCAGCCAAACTATAAAACTCTTGTAACACTTTTCTGAACCCAGCGTTTCCAGTGTTTATAGATTGCTTTGCTATCTGAAAGACCCAGTTAGTATTTAAAATGGTAAAGGGTTAAAAAAGTTAATATTTCTCCCTGCTAGTTACCAACTCACAGCTCAAATCCCACCCTGCAGGGGAAAACAGTATCGCCCTGGACTTCCTGGAATCTAGGCAGGACCTCCACGCTCCAAGCTGCAACCTGCTAAAGTGATCAACGTTTTGATTTTTCACAGCTTTGAAAGCCTCTAACTGGCTTTTCCATTTTGGATCATTCCAAAGTCTGCAGCAAAATCATTGGTTTTTTGATGCTGGGGTCGGGGTGGGAGGCAGTGGGTTGACGGGGGTCACTTAATTGTTGCTAGTTTGTTCAAACTGAGATTCACTGCATAAAACTTTTAGTAGAATTTCCTCCAAAATGCTGGCATTCCCCCCTTCAAAATGAAGAAAGCATGGAGGCTGACTAGCCTTATACCACAGTCTCACTGCCTTTTCCAGGCTTCACCCAACCATTTCCTCTCTTCTCTCTCTTTACCTTTCCAGAATTCACCAATCTGTTGGAACACTTCTGCCACGTGTGAAGAGTTTTGGCAGACCAAATCCACATGCCTGAAGTGATGCCCACCAACAAAGACATAAAAATTTTCAACATTTCAACAGCCATGTTGGAATCATCTGCAGAATACCGAAAAAGTGCCCAGTTGGAGATTTCATAAAAATAACAGGCAATCACACACGTTGCAGGAACTGTGTACAGTACTGAGAACACCCCAATCTTGACCATCAGTCTTTCTAACTTGTCTGTCTTTGTCCCATCCTTTTGAAGATTTGACCGAATTTTGAACAAGGCCACCAAACCTGCAGCAATGAACAAAGTTCCAATGACCAAATAAGTAAAGAGGGGAGCCACCACGAACCCGGTGAGGGCATCGAGATTTTGGTTTCCAACATAGCACAAGCCAGTCAGTTCATCTGCATCCACCAGTCTCATAATCAAGATGACAATGGTTTTCACTGCGGGGATGGCCCAGGCTGCAATGTGGAAATAAGAGCTGTGCATTTCAATGGCTTCATGACCCCATTTGAGTCCTGCTGCCAAAAACCAAGTGAGTGTCAGAATAACCCACCAAATGGAGCTGGCCATTCCAAAAAAGTACATCAGCAAGAAAATTATTGCACATCCTGTGTTCTTAAGTCCTTCTTGGATGAGAACAGGTTCTGCTGCCTCTTCAAAATCACAGGATATCCTTTCCCGGCCTACAGTCAGCCTGACAATATAAGCAATGCTATAAATATTATAGCACATACTGAGAAATATGATGGGGCGCTCAGGGTAGGAAAACCTAGAAGAATCGATCAGGAAGGTCAGTACTGTGAAGGCAGTGGAGATGAAACACAGGCTGGCCCACACAGCCATCCAGATATCAGTGAACTCCTTGGCTGAGCGGCTGTATAAGCCAGCATCATAGCCACACTTGAGCACACAGTTCAGGCTCCTTTTCACCCAGATGTACTGATCAGAATTGGTTCCCACAGAGTGACACTCTTCCCCAGGCTGGATGGGGGTTTTGTGAGGTAAGGGCACCTCTTCATCACCTGGCCCTTCCATGCACATGTGGTTGTGGTCGTTCTGTGGTGGGAATTTGCTGCAGTTCAGACTCTCTGGCCAGGCAAATCCAAATTCCTTCAGGACGGGTTCACAGCGTCTCTTGACTGAAAGACACATGCCGCCGCATGGGCCAATGGGGATGTTGATCTTCTCTGTGCACATTGGCACATAAACAGAACAAAGGAAGAACTGGAAAAGTAACAAAATGAACACACACAAAAAAAACAATGACTTGGAAGTTTGACCAAATGCTCCCACAAAGCTGAGTTGAATGCTTCCAGGCAATCTAGGTATCTACTTTTAAACCAACCTATCGGGAGTCTGTCTGTTTACTCTGACCTCAAACAAGGGCGCCTGATAATCCATCACTTACATACTTTTCTTAGTTTGGCTTTAGTAATCCTTTCCAGAAGAATGTACATAAATAAATAAATAAAATAAATAGGGTCTGAAGAATTGCATAAGCCCTCTTTGCACAACACTTGAAATAAATCTTAAAAAACTGGCTTTCAATCTCCTTCCATTTTAGAAACTATTTGAAAAAGCTAAAGAAACTAATATGACTCATTTAGGTGGTTTATTTTTATCCCCGTTTCTTTATCATTTTAAAAATAAAAGTTAAAAAAAAATGTAGATCCTGTTAGTATTCTCTTCTCCCTAATTTATCCCTTAAAAATTTGTTTAAACTAGTCCCATACTGAAACAAAAAATGGCCCAAATGAGACACTGTTAGACTCAAGGATGGGATGCAGATTGAGGTCTCTGGTCACTAGGGATTTGTTTGGCCAGGTTTCCTCAATGAATAATAATGAAGCACAATAGGAAAATGTAAATGTTAAGTCGCTGAAACTGCAGTACCAGCAGGGGAGAGTCCAGTTGCTGTCCTCAATTCCTCCAGCATTGATAAACAGTCTGCTTGGCTCCTTACAGATGTTGTCTATGAAGTCTAGAGTTACAAGTAACTATTTTCCAGCATGTAAAGGGATCCAGTCTTGTCCTTCAAAACAGCTTGGCCGCTTTCCCCAGGATACATGTAATTAAAAATATATATCCCTGCAAAAGCTGTTTCTCCAACAAATTGCCACTGATGTCAGGATATGTGCTGTTTCCAAACTGAGAGCTGGAGGATCATTTCTTAAGCTTTTATAACCTAGTTCTAAAGTTCTGAAACTTCCAAAGGGATATTTTAGCAGCAACAGGTCTAATCCCCACCATCTTTCCAAAACCACAAACCAAGTTTTAAAATGACCTATGTAAAAACATGCACCTAGTAAGTAAGCTGTATGTCTGTTTATTATCTCTCAGAAGTTACAGCCAGAACCACAGATTTCTTTTCTTTTCTTTTTTTTTTTGATACGGAGTTTCGCTCCTGTGGCCCAGGCTAGAGTGCAATGGTGCAATCCCCGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCACGCCACCACGCCCGGCTAATTTTTGTACTTTTAGTAGAGACAGGATTTCGCCATGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCGTGAGCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCAGAAACCAGATTTCTGAAGCCTGGACAACTAACGTCTACTTTTTCCCACAACTTCTCTCTTTTCTAAATTTCTAAAAATCACCCAGCCTCACCAACCCAAACATAACCAATGTTAACACTTTAAAAATTTTCCTGTCAGTCTTTTATTATCCCAATAAATTTTTTATTTTGCAGGATTATAATCACCCTGTATATGCAAATTCTTATTACTGTGGAATAAACATTTTCTCTATCATTAGATATGCTTTACATTTTTTAATGACTGCAAAAAAATTTCTTCCAATATACCAACCACCTTCCTGCAGCTTCTTCTCACCCTCCAAGCATTAAACGTGCCTTCAACTGTGAGGATAAGAAAGAACTCAAGCCAACCCAACCACTCCTTCATGCATGACCTCTAAAACGCTGCGGGACGTCGTGAGAAGGGGCTATTCAGCAGAAAAAGGTGCAGTAGTGTTTCATTTAATAACACCCCAAAAATAGTGGGGAGAAGGAAGTTCGGTGAAGGATGGTCTCCTTATCACTCCCTCCAAGTCTTAGCTGCAGCTGGCTCCCTCCCACTCGCCCACCGAGCAG
|
GAGTCATTAACATAAAATGAAGAAAACAGCAGCAGCCAAGAAGAGAGATGTTGAAATTTAAGAGAGGAAGACAGAGAAGAAAAATCCACTGGATACCTTATGTGTGTGAGTACAGTACTTTTGTTTGTTCAAATAACTGTTTTATGACAAAGGCACTGAAAGATTCTAACACCACTTCTTGGGAGTGCAGTCCACAAAGTTCTAAACAGCAGACAGCGCACCACAGAAGATGTTTATGTTACATCAGCCAAACTATAAAACTCTTGTAACACTTTTCTGAACCCAGCGTTTCCAGTGTTTATAGATTGCTTTGCTATCTGAAAGACCCAGTTAGTATTTAAAATGGTAAAGGGTTAAAAAAGTTAATATTTCTCCCTGCTAGTTACCAACTCACAGCTCAAATCCCACCCTGCAGGGGAAAACAGTATCGCCCTGGACTTCCTGGAATCTAGGCAGGACCTCCACGCTCCAAGCTGCAACCTGCTAAAGTGATCAACGTTTTGATTTTTCACAGCTTTGAAAGCCTCTAACTGGCTTTTCCATTTTGGATCATTCCAAAGTCTGCAGCAAAATCATTGGTTTTTTGATGCTGGGGTCGGGGTGGGAGGCAGTGGGTTGACGGGGGTCACTTAATTGTTGCTAGTTTGTTCAAACTGAGATTCACTGCATAAAACTTTTAGTAGAATTTCCTCCAAAATGCTGGCATTCCCCCCTTCAAAATGAAGAAAGCATGGAGGCTGACTAGCCTTATACCACAGTCTCACTGCCTTTTCCAGGCTTCACCCAACCATTTCCTCTCTTCTCTCTCTTTACCTTTCCAGAATTCACCAATCTGTTGGAACACTTCTGCCACGTGTGAAGAGTTTTGGCAGACCAAATCCACATGCCTGAAGTGATGCCCACCAACAAAGACATAAAAATTTTCAACATTTCAACAGCCATGTTGGAATCATCTGCAGAATACCGAAAAAGTGCCCAGTTGGAGATTTCATAAAAATAACAGGCAATCACACACGTTGCAGGAACTGTGTACAGTACTGAGAACACCCCAATCTTGACCATCAGTCTTTCTAACTTGTCTGTCTTTGTCCCATCCTTTTGAAGATTTGACCGAATTTTGAACAAGGCCACCAAACCTGCAGCAATGAACAAAGTTCCAATGACCAAATAAGTAAAGAGGGGAGCCACCACGAACCCGGTGAGGGCATCGAGATTTTGGTTTCCAACATAGCACAAGCCAGTCAGTTCATCTGCATCCACCAGTCTCATAATCAAGATGACAATGGTTTTCACTGCGGGGATGGCCCAGGCTGCAATGTGGAAATAAGAGCTGTGCATTTCAATGGCTTCATGACCCCATTTGAGTCCTGCTGCCAAAAACCAAGTGAGTGTCAGAATAACCCACCAAATGGAGCTGGCCATTCCAAAAAAGTACATCAGCAAGAAAATTATTGCACATCCTGTGTTCTTAAGTCCTTCTTGGATGAGAACAGGTTCTGCTGCCTCTTCAAAATCACAGGATATCCTTTCCCGGCCTACAGTCAGCCTGACAATATAAGCAATGCTATAAATATTATAGCACATACTGAGAAATATGATGGGGCGCTCAGGGTAGGAAAACCTAGAAGAATCGATCAGGAAGGTCAGTACTGTGAAGGCAGTGGAGATGAAACACAGGCTGGCCCACACAGCCATCCAGATATCAGTGAACTCCTTGGCTGAGCGGCTGTATAAGCCAGCATCATAGCCACACTTGAGCACACAGTTCAGGCTCCTTTTCACCCAGATGTACTGATCAGAATTGGTTCCCACAGAGTGACACTCTTCCCCAGGCTGGATGGGGGTTTTGTGAGGTAAGGGCACCTCTTCATCACCTGGCCCTTCCATGCACATGTGGTTGTGGTCGTTCTGTGGTGGGAATTTGCTGCAGTTCAGACTCTCTGGCCAGGCAAATCCAAATTCCTTCAGGACGGGTTCACAGCGTCTCTTGACTGAAAGACACATGCCGCCGCATGGGCCAATGGGGATGTTGATCTTCTCTGTGCACACTGGCACATAAACAGAACAAAGGAAGAACTGGAAAAGTAACAAAATGAACACACACAAAAAAAACAATGACTTGGAAGTTTGACCAAATGCTCCCACAAAGCTGAGTTGAATGCTTCCAGGCAATCTAGGTATCTACTTTTAAACCAACCTATCGGGAGTCTGTCTGTTTACTCTGACCTCAAACAAGGGCGCCTGATAATCCATCACTTACATACTTTTCTTAGTTTGGCTTTAGTAATCCTTTCCAGAAGAATGTACATAAATAAATAAATAAAATAAATAGGGTCTGAAGAATTGCATAAGCCCTCTTTGCACAACACTTGAAATAAATCTTAAAAAACTGGCTTTCAATCTCCTTCCATTTTAGAAACTATTTGAAAAAGCTAAAGAAACTAATATGACTCATTTAGGTGGTTTATTTTTATCCCCGTTTCTTTATCATTTTAAAAATAAAAGTTAAAAAAAAATGTAGATCCTGTTAGTATTCTCTTCTCCCTAATTTATCCCTTAAAAATTTGTTTAAACTAGTCCCATACTGAAACAAAAAATGGCCCAAATGAGACACTGTTAGACTCAAGGATGGGATGCAGATTGAGGTCTCTGGTCACTAGGGATTTGTTTGGCCAGGTTTCCTCAATGAATAATAATGAAGCACAATAGGAAAATGTAAATGTTAAGTCGCTGAAACTGCAGTACCAGCAGGGGAGAGTCCAGTTGCTGTCCTCAATTCCTCCAGCATTGATAAACAGTCTGCTTGGCTCCTTACAGATGTTGTCTATGAAGTCTAGAGTTACAAGTAACTATTTTCCAGCATGTAAAGGGATCCAGTCTTGTCCTTCAAAACAGCTTGGCCGCTTTCCCCAGGATACATGTAATTAAAAATATATATCCCTGCAAAAGCTGTTTCTCCAACAAATTGCCACTGATGTCAGGATATGTGCTGTTTCCAAACTGAGAGCTGGAGGATCATTTCTTAAGCTTTTATAACCTAGTTCTAAAGTTCTGAAACTTCCAAAGGGATATTTTAGCAGCAACAGGTCTAATCCCCACCATCTTTCCAAAACCACAAACCAAGTTTTAAAATGACCTATGTAAAAACATGCACCTAGTAAGTAAGCTGTATGTCTGTTTATTATCTCTCAGAAGTTACAGCCAGAACCACAGATTTCTTTTCTTTTCTTTTTTTTTTTGATACGGAGTTTCGCTCCTGTGGCCCAGGCTAGAGTGCAATGGTGCAATCCCCGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCACGCCACCACGCCCGGCTAATTTTTGTACTTTTAGTAGAGACAGGATTTCGCCATGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCGTGAGCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCAGAAACCAGATTTCTGAAGCCTGGACAACTAACGTCTACTTTTTCCCACAACTTCTCTCTTTTCTAAATTTCTAAAAATCACCCAGCCTCACCAACCCAAACATAACCAATGTTAACACTTTAAAAATTTTCCTGTCAGTCTTTTATTATCCCAATAAATTTTTTATTTTGCAGGATTATAATCACCCTGTATATGCAAATTCTTATTACTGTGGAATAAACATTTTCTCTATCATTAGATATGCTTTACATTTTTTAATGACTGCAAAAAAATTTCTTCCAATATACCAACCACCTTCCTGCAGCTTCTTCTCACCCTCCAAGCATTAAACGTGCCTTCAACTGTGAGGATAAGAAAGAACTCAAGCCAACCCAACCACTCCTTCATGCATGACCTCTAAAACGCTGCGGGACGTCGTGAGAAGGGGCTATTCAGCAGAAAAAGGTGCAGTAGTGTTTCATTTAATAACACCCCAAAAATAGTGGGGAGAAGGAAGTTCGGTGAAGGATGGTCTCCTTATCACTCCCTCCAAGTCTTAGCTGCAGCTGGCTCCCTCCCACTCGCCCACCGAGCAG
|
Task1_train_16397
|
A variant on Chromosome 11 in gene FZD4, PRSS23 (frizzled class receptor 4| serine protease 23) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
|
Pathogenic; Familial exudative vitreoretinopathy
|
GAGTCATTAACATAAAATGAAGAAAACAGCAGCAGCCAAGAAGAGAGATGTTGAAATTTAAGAGAGGAAGACAGAGAAGAAAAATCCACTGGATACCTTATGTGTGTGAGTACAGTACTTTTGTTTGTTCAAATAACTGTTTTATGACAAAGGCACTGAAAGATTCTAACACCACTTCTTGGGAGTGCAGTCCACAAAGTTCTAAACAGCAGACAGCGCACCACAGAAGATGTTTATGTTACATCAGCCAAACTATAAAACTCTTGTAACACTTTTCTGAACCCAGCGTTTCCAGTGTTTATAGATTGCTTTGCTATCTGAAAGACCCAGTTAGTATTTAAAATGGTAAAGGGTTAAAAAAGTTAATATTTCTCCCTGCTAGTTACCAACTCACAGCTCAAATCCCACCCTGCAGGGGAAAACAGTATCGCCCTGGACTTCCTGGAATCTAGGCAGGACCTCCACGCTCCAAGCTGCAACCTGCTAAAGTGATCAACGTTTTGATTTTTCACAGCTTTGAAAGCCTCTAACTGGCTTTTCCATTTTGGATCATTCCAAAGTCTGCAGCAAAATCATTGGTTTTTTGATGCTGGGGTCGGGGTGGGAGGCAGTGGGTTGACGGGGGTCACTTAATTGTTGCTAGTTTGTTCAAACTGAGATTCACTGCATAAAACTTTTAGTAGAATTTCCTCCAAAATGCTGGCATTCCCCCCTTCAAAATGAAGAAAGCATGGAGGCTGACTAGCCTTATACCACAGTCTCACTGCCTTTTCCAGGCTTCACCCAACCATTTCCTCTCTTCTCTCTCTTTACCTTTCCAGAATTCACCAATCTGTTGGAACACTTCTGCCACGTGTGAAGAGTTTTGGCAGACCAAATCCACATGCCTGAAGTGATGCCCACCAACAAAGACATAAAAATTTTCAACATTTCAACAGCCATGTTGGAATCATCTGCAGAATACCGAAAAAGTGCCCAGTTGGAGATTTCATAAAAATAACAGGCAATCACACACGTTGCAGGAACTGTGTACAGTACTGAGAACACCCCAATCTTGACCATCAGTCTTTCTAACTTGTCTGTCTTTGTCCCATCCTTTTGAAGATTTGACCGAATTTTGAACAAGGCCACCAAACCTGCAGCAATGAACAAAGTTCCAATGACCAAATAAGTAAAGAGGGGAGCCACCACGAACCCGGTGAGGGCATCGAGATTTTGGTTTCCAACATAGCACAAGCCAGTCAGTTCATCTGCATCCACCAGTCTCATAATCAAGATGACAATGGTTTTCACTGCGGGGATGGCCCAGGCTGCAATGTGGAAATAAGAGCTGTGCATTTCAATGGCTTCATGACCCCATTTGAGTCCTGCTGCCAAAAACCAAGTGAGTGTCAGAATAACCCACCAAATGGAGCTGGCCATTCCAAAAAAGTACATCAGCAAGAAAATTATTGCACATCCTGTGTTCTTAAGTCCTTCTTGGATGAGAACAGGTTCTGCTGCCTCTTCAAAATCACAGGATATCCTTTCCCGGCCTACAGTCAGCCTGACAATATAAGCAATGCTATAAATATTATAGCACATACTGAGAAATATGATGGGGCGCTCAGGGTAGGAAAACCTAGAAGAATCGATCAGGAAGGTCAGTACTGTGAAGGCAGTGGAGATGAAACACAGGCTGGCCCACACAGCCATCCAGATATCAGTGAACTCCTTGGCTGAGCGGCTGTATAAGCCAGCATCATAGCCACACTTGAGCACACAGTTCAGGCTCCTTTTCACCCAGATGTACTGATCAGAATTGGTTCCCACAGAGTGACACTCTTCCCCAGGCTGGATGGGGGTTTTGTGAGGTAAGGGCACCTCTTCATCACCTGGCCCTTCCATGCACATGTGGTTGTGGTCGTTCTGTGGTGGGAATTTGCTGCAGTTCAGACTCTCTGGCCAGGCAAATCCAAATTCCTTCAGGACGGGTTCACAGCGTCTCTTGACTGAAAGACACATGCCGCCGCATGGGCCAATGGGGATGTTGATCTTCTCTGTGCACATTGGCACATAAACAGAACAAAGGAAGAACTGGAAAAGTAACAAAATGAACACACACAAAAAAAACAATGACTTGGAAGTTTGACCAAATGCTCCCACAAAGCTGAGTTGAATGCTTCCAGGCAATCTAGGTATCTACTTTTAAACCAACCTATCGGGAGTCTGTCTGTTTACTCTGACCTCAAACAAGGGCGCCTGATAATCCATCACTTACATACTTTTCTTAGTTTGGCTTTAGTAATCCTTTCCAGAAGAATGTACATAAATAAATAAATAAAATAAATAGGGTCTGAAGAATTGCATAAGCCCTCTTTGCACAACACTTGAAATAAATCTTAAAAAACTGGCTTTCAATCTCCTTCCATTTTAGAAACTATTTGAAAAAGCTAAAGAAACTAATATGACTCATTTAGGTGGTTTATTTTTATCCCCGTTTCTTTATCATTTTAAAAATAAAAGTTAAAAAAAAATGTAGATCCTGTTAGTATTCTCTTCTCCCTAATTTATCCCTTAAAAATTTGTTTAAACTAGTCCCATACTGAAACAAAAAATGGCCCAAATGAGACACTGTTAGACTCAAGGATGGGATGCAGATTGAGGTCTCTGGTCACTAGGGATTTGTTTGGCCAGGTTTCCTCAATGAATAATAATGAAGCACAATAGGAAAATGTAAATGTTAAGTCGCTGAAACTGCAGTACCAGCAGGGGAGAGTCCAGTTGCTGTCCTCAATTCCTCCAGCATTGATAAACAGTCTGCTTGGCTCCTTACAGATGTTGTCTATGAAGTCTAGAGTTACAAGTAACTATTTTCCAGCATGTAAAGGGATCCAGTCTTGTCCTTCAAAACAGCTTGGCCGCTTTCCCCAGGATACATGTAATTAAAAATATATATCCCTGCAAAAGCTGTTTCTCCAACAAATTGCCACTGATGTCAGGATATGTGCTGTTTCCAAACTGAGAGCTGGAGGATCATTTCTTAAGCTTTTATAACCTAGTTCTAAAGTTCTGAAACTTCCAAAGGGATATTTTAGCAGCAACAGGTCTAATCCCCACCATCTTTCCAAAACCACAAACCAAGTTTTAAAATGACCTATGTAAAAACATGCACCTAGTAAGTAAGCTGTATGTCTGTTTATTATCTCTCAGAAGTTACAGCCAGAACCACAGATTTCTTTTCTTTTCTTTTTTTTTTTGATACGGAGTTTCGCTCCTGTGGCCCAGGCTAGAGTGCAATGGTGCAATCCCCGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCACGCCACCACGCCCGGCTAATTTTTGTACTTTTAGTAGAGACAGGATTTCGCCATGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCGTGAGCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCAGAAACCAGATTTCTGAAGCCTGGACAACTAACGTCTACTTTTTCCCACAACTTCTCTCTTTTCTAAATTTCTAAAAATCACCCAGCCTCACCAACCCAAACATAACCAATGTTAACACTTTAAAAATTTTCCTGTCAGTCTTTTATTATCCCAATAAATTTTTTATTTTGCAGGATTATAATCACCCTGTATATGCAAATTCTTATTACTGTGGAATAAACATTTTCTCTATCATTAGATATGCTTTACATTTTTTAATGACTGCAAAAAAATTTCTTCCAATATACCAACCACCTTCCTGCAGCTTCTTCTCACCCTCCAAGCATTAAACGTGCCTTCAACTGTGAGGATAAGAAAGAACTCAAGCCAACCCAACCACTCCTTCATGCATGACCTCTAAAACGCTGCGGGACGTCGTGAGAAGGGGCTATTCAGCAGAAAAAGGTGCAGTAGTGTTTCATTTAATAACACCCCAAAAATAGTGGGGAGAAGGAAGTTCGGTGAAGGATGGTCTCCTTATCACTCCCTCCAAGTCTTAGCTGCAGCTGGCTCCCTCCCACTCGCCCACCGAGCAG
|
GAGTCATTAACATAAAATGAAGAAAACAGCAGCAGCCAAGAAGAGAGATGTTGAAATTTAAGAGAGGAAGACAGAGAAGAAAAATCCACTGGATACCTTATGTGTGTGAGTACAGTACTTTTGTTTGTTCAAATAACTGTTTTATGACAAAGGCACTGAAAGATTCTAACACCACTTCTTGGGAGTGCAGTCCACAAAGTTCTAAACAGCAGACAGCGCACCACAGAAGATGTTTATGTTACATCAGCCAAACTATAAAACTCTTGTAACACTTTTCTGAACCCAGCGTTTCCAGTGTTTATAGATTGCTTTGCTATCTGAAAGACCCAGTTAGTATTTAAAATGGTAAAGGGTTAAAAAAGTTAATATTTCTCCCTGCTAGTTACCAACTCACAGCTCAAATCCCACCCTGCAGGGGAAAACAGTATCGCCCTGGACTTCCTGGAATCTAGGCAGGACCTCCACGCTCCAAGCTGCAACCTGCTAAAGTGATCAACGTTTTGATTTTTCACAGCTTTGAAAGCCTCTAACTGGCTTTTCCATTTTGGATCATTCCAAAGTCTGCAGCAAAATCATTGGTTTTTTGATGCTGGGGTCGGGGTGGGAGGCAGTGGGTTGACGGGGGTCACTTAATTGTTGCTAGTTTGTTCAAACTGAGATTCACTGCATAAAACTTTTAGTAGAATTTCCTCCAAAATGCTGGCATTCCCCCCTTCAAAATGAAGAAAGCATGGAGGCTGACTAGCCTTATACCACAGTCTCACTGCCTTTTCCAGGCTTCACCCAACCATTTCCTCTCTTCTCTCTCTTTACCTTTCCAGAATTCACCAATCTGTTGGAACACTTCTGCCACGTGTGAAGAGTTTTGGCAGACCAAATCCACATGCCTGAAGTGATGCCCACCAACAAAGACATAAAAATTTTCAACATTTCAACAGCCATGTTGGAATCATCTGCAGAATACCGAAAAAGTGCCCAGTTGGAGATTTCATAAAAATAACAGGCAATCACACACGTTGCAGGAACTGTGTACAGTACTGAGAACACCCCAATCTTGACCATCAGTCTTTCTAACTTGTCTGTCTTTGTCCCATCCTTTTGAAGATTTGACCGAATTTTGAACAAGGCCACCAAACCTGCAGCAATGAACAAAGTTCCAATGACCAAATAAGTAAAGAGGGGAGCCACCACGAACCCGGTGAGGGCATCGAGATTTTGGTTTCCAACATAGCACAAGCCAGTCAGTTCATCTGCATCCACCAGTCTCATAATCAAGATGACAATGGTTTTCACTGCGGGGATGGCCCAGGCTGCAATGTGGAAATAAGAGCTGTGCATTTCAATGGCTTCATGACCCCATTTGAGTCCTGCTGCCAAAAACCAAGTGAGTGTCAGAATAACCCACCAAATGGAGCTGGCCATTCCAAAAAAGTACATCAGCAAGAAAATTATTGCACATCCTGTGTTCTTAAGTCCTTCTTGGATGAGAACAGGTTCTGCTGCCTCTTCAAAATCACAGGATATCCTTTCCCGGCCTACAGTCAGCCTGACAATATAAGCAATGCTATAAATATTATAGCACATACTGAGAAATATGATGGGGCGCTCAGGGTAGGAAAACCTAGAAGAATCGATCAGGAAGGTCAGTACTGTGAAGGCAGTGGAGATGAAACACAGGCTGGCCCACACAGCCATCCAGATATCAGTGAACTCCTTGGCTGAGCGGCTGTATAAGCCAGCATCATAGCCACACTTGAGCACACAGTTCAGGCTCCTTTTCACCCAGATGTACTGATCAGAATTGGTTCCCACAGAGTGACACTCTTCCCCAGGCTGGATGGGGGTTTTGTGAGGTAAGGGCACCTCTTCATCACCTGGCCCTTCCATGCACATGTGGTTGTGGTCGTTCTGTGGTGGGAATTTGCTGCAGTTCAGACTCTCTGGCCAGGCAAATCCAAATTCCTTCAGGACGGGTTCACAGCGTCTCTTGACTGAAAGACACATGCCGCCGCATGGGCCAATGGGGATGTTGATCTTCTCTGTGCACACTGGCACATAAACAGAACAAAGGAAGAACTGGAAAAGTAACAAAATGAACACACACAAAAAAAACAATGACTTGGAAGTTTGACCAAATGCTCCCACAAAGCTGAGTTGAATGCTTCCAGGCAATCTAGGTATCTACTTTTAAACCAACCTATCGGGAGTCTGTCTGTTTACTCTGACCTCAAACAAGGGCGCCTGATAATCCATCACTTACATACTTTTCTTAGTTTGGCTTTAGTAATCCTTTCCAGAAGAATGTACATAAATAAATAAATAAAATAAATAGGGTCTGAAGAATTGCATAAGCCCTCTTTGCACAACACTTGAAATAAATCTTAAAAAACTGGCTTTCAATCTCCTTCCATTTTAGAAACTATTTGAAAAAGCTAAAGAAACTAATATGACTCATTTAGGTGGTTTATTTTTATCCCCGTTTCTTTATCATTTTAAAAATAAAAGTTAAAAAAAAATGTAGATCCTGTTAGTATTCTCTTCTCCCTAATTTATCCCTTAAAAATTTGTTTAAACTAGTCCCATACTGAAACAAAAAATGGCCCAAATGAGACACTGTTAGACTCAAGGATGGGATGCAGATTGAGGTCTCTGGTCACTAGGGATTTGTTTGGCCAGGTTTCCTCAATGAATAATAATGAAGCACAATAGGAAAATGTAAATGTTAAGTCGCTGAAACTGCAGTACCAGCAGGGGAGAGTCCAGTTGCTGTCCTCAATTCCTCCAGCATTGATAAACAGTCTGCTTGGCTCCTTACAGATGTTGTCTATGAAGTCTAGAGTTACAAGTAACTATTTTCCAGCATGTAAAGGGATCCAGTCTTGTCCTTCAAAACAGCTTGGCCGCTTTCCCCAGGATACATGTAATTAAAAATATATATCCCTGCAAAAGCTGTTTCTCCAACAAATTGCCACTGATGTCAGGATATGTGCTGTTTCCAAACTGAGAGCTGGAGGATCATTTCTTAAGCTTTTATAACCTAGTTCTAAAGTTCTGAAACTTCCAAAGGGATATTTTAGCAGCAACAGGTCTAATCCCCACCATCTTTCCAAAACCACAAACCAAGTTTTAAAATGACCTATGTAAAAACATGCACCTAGTAAGTAAGCTGTATGTCTGTTTATTATCTCTCAGAAGTTACAGCCAGAACCACAGATTTCTTTTCTTTTCTTTTTTTTTTTGATACGGAGTTTCGCTCCTGTGGCCCAGGCTAGAGTGCAATGGTGCAATCCCCGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCACGCCACCACGCCCGGCTAATTTTTGTACTTTTAGTAGAGACAGGATTTCGCCATGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCGTGAGCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCAGAAACCAGATTTCTGAAGCCTGGACAACTAACGTCTACTTTTTCCCACAACTTCTCTCTTTTCTAAATTTCTAAAAATCACCCAGCCTCACCAACCCAAACATAACCAATGTTAACACTTTAAAAATTTTCCTGTCAGTCTTTTATTATCCCAATAAATTTTTTATTTTGCAGGATTATAATCACCCTGTATATGCAAATTCTTATTACTGTGGAATAAACATTTTCTCTATCATTAGATATGCTTTACATTTTTTAATGACTGCAAAAAAATTTCTTCCAATATACCAACCACCTTCCTGCAGCTTCTTCTCACCCTCCAAGCATTAAACGTGCCTTCAACTGTGAGGATAAGAAAGAACTCAAGCCAACCCAACCACTCCTTCATGCATGACCTCTAAAACGCTGCGGGACGTCGTGAGAAGGGGCTATTCAGCAGAAAAAGGTGCAGTAGTGTTTCATTTAATAACACCCCAAAAATAGTGGGGAGAAGGAAGTTCGGTGAAGGATGGTCTCCTTATCACTCCCTCCAAGTCTTAGCTGCAGCTGGCTCCCTCCCACTCGCCCACCGAGCAG
|
Task1_train_16398
|
Here is a variant affecting FZD4 (frizzled class receptor 4) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder.
|
Pathogenic; not provided
|
GGTTTATTTTTATCCCCGTTTCTTTATCATTTTAAAAATAAAAGTTAAAAAAAAATGTAGATCCTGTTAGTATTCTCTTCTCCCTAATTTATCCCTTAAAAATTTGTTTAAACTAGTCCCATACTGAAACAAAAAATGGCCCAAATGAGACACTGTTAGACTCAAGGATGGGATGCAGATTGAGGTCTCTGGTCACTAGGGATTTGTTTGGCCAGGTTTCCTCAATGAATAATAATGAAGCACAATAGGAAAATGTAAATGTTAAGTCGCTGAAACTGCAGTACCAGCAGGGGAGAGTCCAGTTGCTGTCCTCAATTCCTCCAGCATTGATAAACAGTCTGCTTGGCTCCTTACAGATGTTGTCTATGAAGTCTAGAGTTACAAGTAACTATTTTCCAGCATGTAAAGGGATCCAGTCTTGTCCTTCAAAACAGCTTGGCCGCTTTCCCCAGGATACATGTAATTAAAAATATATATCCCTGCAAAAGCTGTTTCTCCAACAAATTGCCACTGATGTCAGGATATGTGCTGTTTCCAAACTGAGAGCTGGAGGATCATTTCTTAAGCTTTTATAACCTAGTTCTAAAGTTCTGAAACTTCCAAAGGGATATTTTAGCAGCAACAGGTCTAATCCCCACCATCTTTCCAAAACCACAAACCAAGTTTTAAAATGACCTATGTAAAAACATGCACCTAGTAAGTAAGCTGTATGTCTGTTTATTATCTCTCAGAAGTTACAGCCAGAACCACAGATTTCTTTTCTTTTCTTTTTTTTTTTGATACGGAGTTTCGCTCCTGTGGCCCAGGCTAGAGTGCAATGGTGCAATCCCCGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCACGCCACCACGCCCGGCTAATTTTTGTACTTTTAGTAGAGACAGGATTTCGCCATGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCGTGAGCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCAGAAACCAGATTTCTGAAGCCTGGACAACTAACGTCTACTTTTTCCCACAACTTCTCTCTTTTCTAAATTTCTAAAAATCACCCAGCCTCACCAACCCAAACATAACCAATGTTAACACTTTAAAAATTTTCCTGTCAGTCTTTTATTATCCCAATAAATTTTTTATTTTGCAGGATTATAATCACCCTGTATATGCAAATTCTTATTACTGTGGAATAAACATTTTCTCTATCATTAGATATGCTTTACATTTTTTAATGACTGCAAAAAAATTTCTTCCAATATACCAACCACCTTCCTGCAGCTTCTTCTCACCCTCCAAGCATTAAACGTGCCTTCAACTGTGAGGATAAGAAAGAACTCAAGCCAACCCAACCACTCCTTCATGCATGACCTCTAAAACGCTGCGGGACGTCGTGAGAAGGGGCTATTCAGCAGAAAAAGGTGCAGTAGTGTTTCATTTAATAACACCCCAAAAATAGTGGGGAGAAGGAAGTTCGGTGAAGGATGGTCTCCTTATCACTCCCTCCAAGTCTTAGCTGCAGCTGGCTCCCTCCCACTCGCCCACCGAGCAGTGGCGGCCAGAATCCTTGGCAGAGATAACCCTCAGCTCCACTGGGGTTAGGGGTCTGGGCCAGACATGGGTGGGCAAGAGAGAAAAACGGAAGGGCGGGGTGTAAGAGTGGGTTCTTTCCCAGGCCAGATGACTTACACAACGTTTTGGCTTCCAGTCCCTGAGAAAGTGGGGGTGGGGATGGAAATCACTTTTCCAGGAGAGCTGTCTCCTTCGGGCTAGGATGATCAACTTGGCATGGGCTCTGCAAAGTTAGTTTGGAGCGTCCCTCCCCAAGGGGTCCCGCCAGGGGTGGGGGTGGGGGCGCCCACCTGCAGCTGGCTGGAGCAGCCGTACTGGATGAGCGGTGTGAAAGTTGTCAGCTGCAGCTCGGCGTCCGTCTGCAGCTCGTGCCCAACCAGGTTGGGCATCTTGGTCACGTTGTAGCCGAGGTTCTGGCACATGGAGATGCGGATGGGGTCGCAGCGCCGCTCTTCCTCGTCCCCGAAGCCCCGCGCCGGCCCCAGGAGCAGCAGCAACTGCAGGAGCAACCCCAGACTGAGACCGACGCCCCCGGGCGCCCCCGGGACGCTCGGCCCTGCGCCCCGCCAGGCCATGGCCAGCATCGGGGGTAGCAGCGGCAGCGGCTGGGGCTGCTCTGGCAGACACCCCCAGTTTGCACGGGGGCGCCGGCTGCCCGCGCTGCTCCCAGCTCCCGGGACGGGAGTGTGATGCGGCGACGAGGGGGCAGCGGCCGGCTCTCCAGCAGCTGCGCGCGACTGTGTGGGATTTTAGACGTCCCGGGCCGAGGCCGAGGGACAGGCTGCGAGGGTCATGGCTGCAGGCGGCGAGCCCACAAGCCGGCGCCGGCCGCGTCCGTTCGGCGTCTCCGCGAGGCCAGCCAGCAGCCAGCGCTGCGCAGCTCTCACCGCCGGAGCCCTGCGCGGCGCTGGAGGCTCGCGGCGCGGCGGCGGGGCGGGACGGACAGCGGGCCTCTCCAATGGCCGGGCGCGGTGGGCAGCTAGGGGCGAGGCGGCGGGGCGGGGCCGCTCTCCCGCAGGAGGAGTCAGGCCCCCGCCCTCCGGCCCCCTCCTCCGGCCGCCCCTCCCTCCCTCCCTCCCCTAGCGCCCCGCCCCGCCCGCCTCCCGGCTCTTGCTTTCCTCCCACCCGGATCTAGGCGCGCAGGGGCCAAGCAGGGACGCAGCCCAGTGGCTCCAGCCACGCCGTCCTGCCCCCTTCTGCAGGTGAGAAGTGCGCCCTGTTCCATCTGCCCCCTTTCCTTCCTGTCTCCTTTCAGCTGTAACCTAGGCCGGTGGCCACCTCCCCGTCAGGCAGAGAAACGTACACAAAGAATTGGGGATTTGGATTTACACCGATTGTGGCTTTCAGTCCCGGTTGTGTGACCTTGAGCAAATTGCTCAACCCCTCGGCGTCAGTCTCCTCTGTAAAGTCACTTGGGAGGATTAGAGATAAAGTGTAGAAGGCTTAGCATGGTGCCTGGTACTGCGTGAGTCCACAGCTATTTTCACTCCGGACCAGCGGCGATCGGGGCCCGGCCTCTCCCCGCCCCCAGACTCGCCCGACCTGCGCAGGGAGCCGCCCACCTCCAGCCGCCAGCGGGGAGGCGCCCCAGAGCTGCGGAGCTGCAGACCCGCCGACGGTCTCGCGCTCTGATTTCCTCACCGTATGAAATGAAATTCCACAGGGGGATTCGAAAGGAAATGAGACCGGGACTCTCCGTGCTTCTCGGCCCGCCGCCCTTCCTGTCTCGGGGACACGGTTTCTAAATAAGGTTGGGAGGGTGAGAGGGCGGGAGGGGAGAGGCTTGACCTGTGCACTGGGGACGAGGAAGGCGCACAACCACCGTGACTCCTCTCTCCCGGCCTCCCGGGCACCCCCTCCCCACCAGGCTGCACCCCTTTTTTTCTTTGCTTCTGCTTCGGCTCCTAGGGATCTGGGGATCATGTGACCCAGGTTTGAACCCAACTTTCCTGTCTCATTACCAGCCCCCCGCGGCTTTGTGCTGGTCCACCCTCTCTCTGCTTTCCAGTCGGCCAGTAAACTCCCAGCAGGTGGATTCCTCCACCGTTTACTTGTTGCTTGACTGTGTTGAAGCTATGGTGCCTCTCTGAGCCTCAAAGTGGCCGGCTGTAAAGTGGGGAAGTTCATATCCACCTCACACAGTTGTTCTAAGAGTTCAGTGAGATAATACCTGTAAATCATTTAGCAGTGTCTGACACATAATAAATGCTGAAGAACTTGGTGATTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTTTCCAAAACAGCTAGGGGAGATCAATTATGGGACAGCCTCCTGCTTTCCAGCCTGGTGCTAAAGACAGCTCCAGCAGCCCCGGAATGAGGATCTGGGTAAAAGGCTTTTCACCCTCTTCCTGAGATCTTTTTGTCCAACACTTGCCACTGTTTTATGCATGTTTTTAT
|
GGTTTATTTTTATCCCCGTTTCTTTATCATTTTAAAAATAAAAGTTAAAAAAAAATGTAGATCCTGTTAGTATTCTCTTCTCCCTAATTTATCCCTTAAAAATTTGTTTAAACTAGTCCCATACTGAAACAAAAAATGGCCCAAATGAGACACTGTTAGACTCAAGGATGGGATGCAGATTGAGGTCTCTGGTCACTAGGGATTTGTTTGGCCAGGTTTCCTCAATGAATAATAATGAAGCACAATAGGAAAATGTAAATGTTAAGTCGCTGAAACTGCAGTACCAGCAGGGGAGAGTCCAGTTGCTGTCCTCAATTCCTCCAGCATTGATAAACAGTCTGCTTGGCTCCTTACAGATGTTGTCTATGAAGTCTAGAGTTACAAGTAACTATTTTCCAGCATGTAAAGGGATCCAGTCTTGTCCTTCAAAACAGCTTGGCCGCTTTCCCCAGGATACATGTAATTAAAAATATATATCCCTGCAAAAGCTGTTTCTCCAACAAATTGCCACTGATGTCAGGATATGTGCTGTTTCCAAACTGAGAGCTGGAGGATCATTTCTTAAGCTTTTATAACCTAGTTCTAAAGTTCTGAAACTTCCAAAGGGATATTTTAGCAGCAACAGGTCTAATCCCCACCATCTTTCCAAAACCACAAACCAAGTTTTAAAATGACCTATGTAAAAACATGCACCTAGTAAGTAAGCTGTATGTCTGTTTATTATCTCTCAGAAGTTACAGCCAGAACCACAGATTTCTTTTCTTTTCTTTTTTTTTTTGATACGGAGTTTCGCTCCTGTGGCCCAGGCTAGAGTGCAATGGTGCAATCCCCGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCACGCCACCACGCCCGGCTAATTTTTGTACTTTTAGTAGAGACAGGATTTCGCCATGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCGTGAGCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCAGAAACCAGATTTCTGAAGCCTGGACAACTAACGTCTACTTTTTCCCACAACTTCTCTCTTTTCTAAATTTCTAAAAATCACCCAGCCTCACCAACCCAAACATAACCAATGTTAACACTTTAAAAATTTTCCTGTCAGTCTTTTATTATCCCAATAAATTTTTTATTTTGCAGGATTATAATCACCCTGTATATGCAAATTCTTATTACTGTGGAATAAACATTTTCTCTATCATTAGATATGCTTTACATTTTTTAATGACTGCAAAAAAATTTCTTCCAATATACCAACCACCTTCCTGCAGCTTCTTCTCACCCTCCAAGCATTAAACGTGCCTTCAACTGTGAGGATAAGAAAGAACTCAAGCCAACCCAACCACTCCTTCATGCATGACCTCTAAAACGCTGCGGGACGTCGTGAGAAGGGGCTATTCAGCAGAAAAAGGTGCAGTAGTGTTTCATTTAATAACACCCCAAAAATAGTGGGGAGAAGGAAGTTCGGTGAAGGATGGTCTCCTTATCACTCCCTCCAAGTCTTAGCTGCAGCTGGCTCCCTCCCACTCGCCCACCGAGCAGTGGCGGCCAGAATCCTTGGCAGAGATAACCCTCAGCTCCACTGGGGTTAGGGGTCTGGGCCAGACATGGGTGGGCAAGAGAGAAAAACGGAAGGGCGGGGTGTAAGAGTGGGTTCTTTCCCAGGCCAGATGACTTACACAACGTTTTGGCTTCCAGTCCCTGAGAAAGTGGGGGTGGGGATGGAAATCACTTTTCCAGGAGAGCTGTCTCCTTCGGGCTAGGATGATCAACTTGGCATGGGCTCTGCAAAGTTAGTTTGGAGCGTCCCTCCCCAAGGGGTCCCGCCAGGGGTGGGGGTGGGGGCGCCCACCTGCAGCTGGCTGGAGCAGCCGTACTGGATGAGCGGTGTGAAAGTTGTCAGCTGCAGCTCGGCGTCCGTCTGCAGCTCGTGCCCAACCAGGTTGGGCATCTTGATCACGTTGTAGCCGAGGTTCTGGCACATGGAGATGCGGATGGGGTCGCAGCGCCGCTCTTCCTCGTCCCCGAAGCCCCGCGCCGGCCCCAGGAGCAGCAGCAACTGCAGGAGCAACCCCAGACTGAGACCGACGCCCCCGGGCGCCCCCGGGACGCTCGGCCCTGCGCCCCGCCAGGCCATGGCCAGCATCGGGGGTAGCAGCGGCAGCGGCTGGGGCTGCTCTGGCAGACACCCCCAGTTTGCACGGGGGCGCCGGCTGCCCGCGCTGCTCCCAGCTCCCGGGACGGGAGTGTGATGCGGCGACGAGGGGGCAGCGGCCGGCTCTCCAGCAGCTGCGCGCGACTGTGTGGGATTTTAGACGTCCCGGGCCGAGGCCGAGGGACAGGCTGCGAGGGTCATGGCTGCAGGCGGCGAGCCCACAAGCCGGCGCCGGCCGCGTCCGTTCGGCGTCTCCGCGAGGCCAGCCAGCAGCCAGCGCTGCGCAGCTCTCACCGCCGGAGCCCTGCGCGGCGCTGGAGGCTCGCGGCGCGGCGGCGGGGCGGGACGGACAGCGGGCCTCTCCAATGGCCGGGCGCGGTGGGCAGCTAGGGGCGAGGCGGCGGGGCGGGGCCGCTCTCCCGCAGGAGGAGTCAGGCCCCCGCCCTCCGGCCCCCTCCTCCGGCCGCCCCTCCCTCCCTCCCTCCCCTAGCGCCCCGCCCCGCCCGCCTCCCGGCTCTTGCTTTCCTCCCACCCGGATCTAGGCGCGCAGGGGCCAAGCAGGGACGCAGCCCAGTGGCTCCAGCCACGCCGTCCTGCCCCCTTCTGCAGGTGAGAAGTGCGCCCTGTTCCATCTGCCCCCTTTCCTTCCTGTCTCCTTTCAGCTGTAACCTAGGCCGGTGGCCACCTCCCCGTCAGGCAGAGAAACGTACACAAAGAATTGGGGATTTGGATTTACACCGATTGTGGCTTTCAGTCCCGGTTGTGTGACCTTGAGCAAATTGCTCAACCCCTCGGCGTCAGTCTCCTCTGTAAAGTCACTTGGGAGGATTAGAGATAAAGTGTAGAAGGCTTAGCATGGTGCCTGGTACTGCGTGAGTCCACAGCTATTTTCACTCCGGACCAGCGGCGATCGGGGCCCGGCCTCTCCCCGCCCCCAGACTCGCCCGACCTGCGCAGGGAGCCGCCCACCTCCAGCCGCCAGCGGGGAGGCGCCCCAGAGCTGCGGAGCTGCAGACCCGCCGACGGTCTCGCGCTCTGATTTCCTCACCGTATGAAATGAAATTCCACAGGGGGATTCGAAAGGAAATGAGACCGGGACTCTCCGTGCTTCTCGGCCCGCCGCCCTTCCTGTCTCGGGGACACGGTTTCTAAATAAGGTTGGGAGGGTGAGAGGGCGGGAGGGGAGAGGCTTGACCTGTGCACTGGGGACGAGGAAGGCGCACAACCACCGTGACTCCTCTCTCCCGGCCTCCCGGGCACCCCCTCCCCACCAGGCTGCACCCCTTTTTTTCTTTGCTTCTGCTTCGGCTCCTAGGGATCTGGGGATCATGTGACCCAGGTTTGAACCCAACTTTCCTGTCTCATTACCAGCCCCCCGCGGCTTTGTGCTGGTCCACCCTCTCTCTGCTTTCCAGTCGGCCAGTAAACTCCCAGCAGGTGGATTCCTCCACCGTTTACTTGTTGCTTGACTGTGTTGAAGCTATGGTGCCTCTCTGAGCCTCAAAGTGGCCGGCTGTAAAGTGGGGAAGTTCATATCCACCTCACACAGTTGTTCTAAGAGTTCAGTGAGATAATACCTGTAAATCATTTAGCAGTGTCTGACACATAATAAATGCTGAAGAACTTGGTGATTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTTTCCAAAACAGCTAGGGGAGATCAATTATGGGACAGCCTCCTGCTTTCCAGCCTGGTGCTAAAGACAGCTCCAGCAGCCCCGGAATGAGGATCTGGGTAAAAGGCTTTTCACCCTCTTCCTGAGATCTTTTTGTCCAACACTTGCCACTGTTTTATGCATGTTTTTAT
|
Task1_train_16399
|
This variant lies on Chromosome 11 and affects the gene FZD4 (frizzled class receptor 4). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
|
Pathogenic; Exudative vitreoretinopathy 1
|
TTATCCCCGTTTCTTTATCATTTTAAAAATAAAAGTTAAAAAAAAATGTAGATCCTGTTAGTATTCTCTTCTCCCTAATTTATCCCTTAAAAATTTGTTTAAACTAGTCCCATACTGAAACAAAAAATGGCCCAAATGAGACACTGTTAGACTCAAGGATGGGATGCAGATTGAGGTCTCTGGTCACTAGGGATTTGTTTGGCCAGGTTTCCTCAATGAATAATAATGAAGCACAATAGGAAAATGTAAATGTTAAGTCGCTGAAACTGCAGTACCAGCAGGGGAGAGTCCAGTTGCTGTCCTCAATTCCTCCAGCATTGATAAACAGTCTGCTTGGCTCCTTACAGATGTTGTCTATGAAGTCTAGAGTTACAAGTAACTATTTTCCAGCATGTAAAGGGATCCAGTCTTGTCCTTCAAAACAGCTTGGCCGCTTTCCCCAGGATACATGTAATTAAAAATATATATCCCTGCAAAAGCTGTTTCTCCAACAAATTGCCACTGATGTCAGGATATGTGCTGTTTCCAAACTGAGAGCTGGAGGATCATTTCTTAAGCTTTTATAACCTAGTTCTAAAGTTCTGAAACTTCCAAAGGGATATTTTAGCAGCAACAGGTCTAATCCCCACCATCTTTCCAAAACCACAAACCAAGTTTTAAAATGACCTATGTAAAAACATGCACCTAGTAAGTAAGCTGTATGTCTGTTTATTATCTCTCAGAAGTTACAGCCAGAACCACAGATTTCTTTTCTTTTCTTTTTTTTTTTGATACGGAGTTTCGCTCCTGTGGCCCAGGCTAGAGTGCAATGGTGCAATCCCCGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCACGCCACCACGCCCGGCTAATTTTTGTACTTTTAGTAGAGACAGGATTTCGCCATGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCGTGAGCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCAGAAACCAGATTTCTGAAGCCTGGACAACTAACGTCTACTTTTTCCCACAACTTCTCTCTTTTCTAAATTTCTAAAAATCACCCAGCCTCACCAACCCAAACATAACCAATGTTAACACTTTAAAAATTTTCCTGTCAGTCTTTTATTATCCCAATAAATTTTTTATTTTGCAGGATTATAATCACCCTGTATATGCAAATTCTTATTACTGTGGAATAAACATTTTCTCTATCATTAGATATGCTTTACATTTTTTAATGACTGCAAAAAAATTTCTTCCAATATACCAACCACCTTCCTGCAGCTTCTTCTCACCCTCCAAGCATTAAACGTGCCTTCAACTGTGAGGATAAGAAAGAACTCAAGCCAACCCAACCACTCCTTCATGCATGACCTCTAAAACGCTGCGGGACGTCGTGAGAAGGGGCTATTCAGCAGAAAAAGGTGCAGTAGTGTTTCATTTAATAACACCCCAAAAATAGTGGGGAGAAGGAAGTTCGGTGAAGGATGGTCTCCTTATCACTCCCTCCAAGTCTTAGCTGCAGCTGGCTCCCTCCCACTCGCCCACCGAGCAGTGGCGGCCAGAATCCTTGGCAGAGATAACCCTCAGCTCCACTGGGGTTAGGGGTCTGGGCCAGACATGGGTGGGCAAGAGAGAAAAACGGAAGGGCGGGGTGTAAGAGTGGGTTCTTTCCCAGGCCAGATGACTTACACAACGTTTTGGCTTCCAGTCCCTGAGAAAGTGGGGGTGGGGATGGAAATCACTTTTCCAGGAGAGCTGTCTCCTTCGGGCTAGGATGATCAACTTGGCATGGGCTCTGCAAAGTTAGTTTGGAGCGTCCCTCCCCAAGGGGTCCCGCCAGGGGTGGGGGTGGGGGCGCCCACCTGCAGCTGGCTGGAGCAGCCGTACTGGATGAGCGGTGTGAAAGTTGTCAGCTGCAGCTCGGCGTCCGTCTGCAGCTCGTGCCCAACCAGGTTGGGCATCTTGGTCACGTTGTAGCCGAGGTTCTGGCACATGGAGATGCGGATGGGGTCGCAGCGCCGCTCTTCCTCGTCCCCGAAGCCCCGCGCCGGCCCCAGGAGCAGCAGCAACTGCAGGAGCAACCCCAGACTGAGACCGACGCCCCCGGGCGCCCCCGGGACGCTCGGCCCTGCGCCCCGCCAGGCCATGGCCAGCATCGGGGGTAGCAGCGGCAGCGGCTGGGGCTGCTCTGGCAGACACCCCCAGTTTGCACGGGGGCGCCGGCTGCCCGCGCTGCTCCCAGCTCCCGGGACGGGAGTGTGATGCGGCGACGAGGGGGCAGCGGCCGGCTCTCCAGCAGCTGCGCGCGACTGTGTGGGATTTTAGACGTCCCGGGCCGAGGCCGAGGGACAGGCTGCGAGGGTCATGGCTGCAGGCGGCGAGCCCACAAGCCGGCGCCGGCCGCGTCCGTTCGGCGTCTCCGCGAGGCCAGCCAGCAGCCAGCGCTGCGCAGCTCTCACCGCCGGAGCCCTGCGCGGCGCTGGAGGCTCGCGGCGCGGCGGCGGGGCGGGACGGACAGCGGGCCTCTCCAATGGCCGGGCGCGGTGGGCAGCTAGGGGCGAGGCGGCGGGGCGGGGCCGCTCTCCCGCAGGAGGAGTCAGGCCCCCGCCCTCCGGCCCCCTCCTCCGGCCGCCCCTCCCTCCCTCCCTCCCCTAGCGCCCCGCCCCGCCCGCCTCCCGGCTCTTGCTTTCCTCCCACCCGGATCTAGGCGCGCAGGGGCCAAGCAGGGACGCAGCCCAGTGGCTCCAGCCACGCCGTCCTGCCCCCTTCTGCAGGTGAGAAGTGCGCCCTGTTCCATCTGCCCCCTTTCCTTCCTGTCTCCTTTCAGCTGTAACCTAGGCCGGTGGCCACCTCCCCGTCAGGCAGAGAAACGTACACAAAGAATTGGGGATTTGGATTTACACCGATTGTGGCTTTCAGTCCCGGTTGTGTGACCTTGAGCAAATTGCTCAACCCCTCGGCGTCAGTCTCCTCTGTAAAGTCACTTGGGAGGATTAGAGATAAAGTGTAGAAGGCTTAGCATGGTGCCTGGTACTGCGTGAGTCCACAGCTATTTTCACTCCGGACCAGCGGCGATCGGGGCCCGGCCTCTCCCCGCCCCCAGACTCGCCCGACCTGCGCAGGGAGCCGCCCACCTCCAGCCGCCAGCGGGGAGGCGCCCCAGAGCTGCGGAGCTGCAGACCCGCCGACGGTCTCGCGCTCTGATTTCCTCACCGTATGAAATGAAATTCCACAGGGGGATTCGAAAGGAAATGAGACCGGGACTCTCCGTGCTTCTCGGCCCGCCGCCCTTCCTGTCTCGGGGACACGGTTTCTAAATAAGGTTGGGAGGGTGAGAGGGCGGGAGGGGAGAGGCTTGACCTGTGCACTGGGGACGAGGAAGGCGCACAACCACCGTGACTCCTCTCTCCCGGCCTCCCGGGCACCCCCTCCCCACCAGGCTGCACCCCTTTTTTTCTTTGCTTCTGCTTCGGCTCCTAGGGATCTGGGGATCATGTGACCCAGGTTTGAACCCAACTTTCCTGTCTCATTACCAGCCCCCCGCGGCTTTGTGCTGGTCCACCCTCTCTCTGCTTTCCAGTCGGCCAGTAAACTCCCAGCAGGTGGATTCCTCCACCGTTTACTTGTTGCTTGACTGTGTTGAAGCTATGGTGCCTCTCTGAGCCTCAAAGTGGCCGGCTGTAAAGTGGGGAAGTTCATATCCACCTCACACAGTTGTTCTAAGAGTTCAGTGAGATAATACCTGTAAATCATTTAGCAGTGTCTGACACATAATAAATGCTGAAGAACTTGGTGATTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTTTCCAAAACAGCTAGGGGAGATCAATTATGGGACAGCCTCCTGCTTTCCAGCCTGGTGCTAAAGACAGCTCCAGCAGCCCCGGAATGAGGATCTGGGTAAAAGGCTTTTCACCCTCTTCCTGAGATCTTTTTGTCCAACACTTGCCACTGTTTTATGCATGTTTTTATCCTCCCATT
|
TTATCCCCGTTTCTTTATCATTTTAAAAATAAAAGTTAAAAAAAAATGTAGATCCTGTTAGTATTCTCTTCTCCCTAATTTATCCCTTAAAAATTTGTTTAAACTAGTCCCATACTGAAACAAAAAATGGCCCAAATGAGACACTGTTAGACTCAAGGATGGGATGCAGATTGAGGTCTCTGGTCACTAGGGATTTGTTTGGCCAGGTTTCCTCAATGAATAATAATGAAGCACAATAGGAAAATGTAAATGTTAAGTCGCTGAAACTGCAGTACCAGCAGGGGAGAGTCCAGTTGCTGTCCTCAATTCCTCCAGCATTGATAAACAGTCTGCTTGGCTCCTTACAGATGTTGTCTATGAAGTCTAGAGTTACAAGTAACTATTTTCCAGCATGTAAAGGGATCCAGTCTTGTCCTTCAAAACAGCTTGGCCGCTTTCCCCAGGATACATGTAATTAAAAATATATATCCCTGCAAAAGCTGTTTCTCCAACAAATTGCCACTGATGTCAGGATATGTGCTGTTTCCAAACTGAGAGCTGGAGGATCATTTCTTAAGCTTTTATAACCTAGTTCTAAAGTTCTGAAACTTCCAAAGGGATATTTTAGCAGCAACAGGTCTAATCCCCACCATCTTTCCAAAACCACAAACCAAGTTTTAAAATGACCTATGTAAAAACATGCACCTAGTAAGTAAGCTGTATGTCTGTTTATTATCTCTCAGAAGTTACAGCCAGAACCACAGATTTCTTTTCTTTTCTTTTTTTTTTTGATACGGAGTTTCGCTCCTGTGGCCCAGGCTAGAGTGCAATGGTGCAATCCCCGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCACGCCACCACGCCCGGCTAATTTTTGTACTTTTAGTAGAGACAGGATTTCGCCATGTTGGTCAGGCTGGTCTCGAACTCCTAACCTCGTGAGCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCAGAAACCAGATTTCTGAAGCCTGGACAACTAACGTCTACTTTTTCCCACAACTTCTCTCTTTTCTAAATTTCTAAAAATCACCCAGCCTCACCAACCCAAACATAACCAATGTTAACACTTTAAAAATTTTCCTGTCAGTCTTTTATTATCCCAATAAATTTTTTATTTTGCAGGATTATAATCACCCTGTATATGCAAATTCTTATTACTGTGGAATAAACATTTTCTCTATCATTAGATATGCTTTACATTTTTTAATGACTGCAAAAAAATTTCTTCCAATATACCAACCACCTTCCTGCAGCTTCTTCTCACCCTCCAAGCATTAAACGTGCCTTCAACTGTGAGGATAAGAAAGAACTCAAGCCAACCCAACCACTCCTTCATGCATGACCTCTAAAACGCTGCGGGACGTCGTGAGAAGGGGCTATTCAGCAGAAAAAGGTGCAGTAGTGTTTCATTTAATAACACCCCAAAAATAGTGGGGAGAAGGAAGTTCGGTGAAGGATGGTCTCCTTATCACTCCCTCCAAGTCTTAGCTGCAGCTGGCTCCCTCCCACTCGCCCACCGAGCAGTGGCGGCCAGAATCCTTGGCAGAGATAACCCTCAGCTCCACTGGGGTTAGGGGTCTGGGCCAGACATGGGTGGGCAAGAGAGAAAAACGGAAGGGCGGGGTGTAAGAGTGGGTTCTTTCCCAGGCCAGATGACTTACACAACGTTTTGGCTTCCAGTCCCTGAGAAAGTGGGGGTGGGGATGGAAATCACTTTTCCAGGAGAGCTGTCTCCTTCGGGCTAGGATGATCAACTTGGCATGGGCTCTGCAAAGTTAGTTTGGAGCGTCCCTCCCCAAGGGGTCCCGCCAGGGGTGGGGGTGGGGGCGCCCACCTGCAGCTGGCTGGAGCAGCCGTACTGGATGAGCGGTGTGAAAGTTGTCAGCTGCAGCTCGGCGTCCGTCTGCAGCTCGTGCCCAACCAGGTTGGGCATCTTGGTCACGTTGCAGCCGAGGTTCTGGCACATGGAGATGCGGATGGGGTCGCAGCGCCGCTCTTCCTCGTCCCCGAAGCCCCGCGCCGGCCCCAGGAGCAGCAGCAACTGCAGGAGCAACCCCAGACTGAGACCGACGCCCCCGGGCGCCCCCGGGACGCTCGGCCCTGCGCCCCGCCAGGCCATGGCCAGCATCGGGGGTAGCAGCGGCAGCGGCTGGGGCTGCTCTGGCAGACACCCCCAGTTTGCACGGGGGCGCCGGCTGCCCGCGCTGCTCCCAGCTCCCGGGACGGGAGTGTGATGCGGCGACGAGGGGGCAGCGGCCGGCTCTCCAGCAGCTGCGCGCGACTGTGTGGGATTTTAGACGTCCCGGGCCGAGGCCGAGGGACAGGCTGCGAGGGTCATGGCTGCAGGCGGCGAGCCCACAAGCCGGCGCCGGCCGCGTCCGTTCGGCGTCTCCGCGAGGCCAGCCAGCAGCCAGCGCTGCGCAGCTCTCACCGCCGGAGCCCTGCGCGGCGCTGGAGGCTCGCGGCGCGGCGGCGGGGCGGGACGGACAGCGGGCCTCTCCAATGGCCGGGCGCGGTGGGCAGCTAGGGGCGAGGCGGCGGGGCGGGGCCGCTCTCCCGCAGGAGGAGTCAGGCCCCCGCCCTCCGGCCCCCTCCTCCGGCCGCCCCTCCCTCCCTCCCTCCCCTAGCGCCCCGCCCCGCCCGCCTCCCGGCTCTTGCTTTCCTCCCACCCGGATCTAGGCGCGCAGGGGCCAAGCAGGGACGCAGCCCAGTGGCTCCAGCCACGCCGTCCTGCCCCCTTCTGCAGGTGAGAAGTGCGCCCTGTTCCATCTGCCCCCTTTCCTTCCTGTCTCCTTTCAGCTGTAACCTAGGCCGGTGGCCACCTCCCCGTCAGGCAGAGAAACGTACACAAAGAATTGGGGATTTGGATTTACACCGATTGTGGCTTTCAGTCCCGGTTGTGTGACCTTGAGCAAATTGCTCAACCCCTCGGCGTCAGTCTCCTCTGTAAAGTCACTTGGGAGGATTAGAGATAAAGTGTAGAAGGCTTAGCATGGTGCCTGGTACTGCGTGAGTCCACAGCTATTTTCACTCCGGACCAGCGGCGATCGGGGCCCGGCCTCTCCCCGCCCCCAGACTCGCCCGACCTGCGCAGGGAGCCGCCCACCTCCAGCCGCCAGCGGGGAGGCGCCCCAGAGCTGCGGAGCTGCAGACCCGCCGACGGTCTCGCGCTCTGATTTCCTCACCGTATGAAATGAAATTCCACAGGGGGATTCGAAAGGAAATGAGACCGGGACTCTCCGTGCTTCTCGGCCCGCCGCCCTTCCTGTCTCGGGGACACGGTTTCTAAATAAGGTTGGGAGGGTGAGAGGGCGGGAGGGGAGAGGCTTGACCTGTGCACTGGGGACGAGGAAGGCGCACAACCACCGTGACTCCTCTCTCCCGGCCTCCCGGGCACCCCCTCCCCACCAGGCTGCACCCCTTTTTTTCTTTGCTTCTGCTTCGGCTCCTAGGGATCTGGGGATCATGTGACCCAGGTTTGAACCCAACTTTCCTGTCTCATTACCAGCCCCCCGCGGCTTTGTGCTGGTCCACCCTCTCTCTGCTTTCCAGTCGGCCAGTAAACTCCCAGCAGGTGGATTCCTCCACCGTTTACTTGTTGCTTGACTGTGTTGAAGCTATGGTGCCTCTCTGAGCCTCAAAGTGGCCGGCTGTAAAGTGGGGAAGTTCATATCCACCTCACACAGTTGTTCTAAGAGTTCAGTGAGATAATACCTGTAAATCATTTAGCAGTGTCTGACACATAATAAATGCTGAAGAACTTGGTGATTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTTTCCAAAACAGCTAGGGGAGATCAATTATGGGACAGCCTCCTGCTTTCCAGCCTGGTGCTAAAGACAGCTCCAGCAGCCCCGGAATGAGGATCTGGGTAAAAGGCTTTTCACCCTCTTCCTGAGATCTTTTTGTCCAACACTTGCCACTGTTTTATGCATGTTTTTATCCTCCCATT
|
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.