Datasets:
wanglab
/
variant_effect_coding

Dataset card Data Studio Files
xet
Community
ID
stringlengths
13
17
question
stringlengths
88
1.13k
answer
stringlengths
6
156
reference_sequence
stringlengths
4.1k
4.1k
variant_sequence
stringlengths
4.1k
4.1k
Task1_train_28700
This sequence change occurs on Chromosome 22, altering NF2 (NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Neurofibromatosis, type 2
ATATACATTTATGTGGTTGGGATCCGGGATCAGGGTGAAGCTGTTCTGTGTCTGCTATTTTATAGTTTGTATTTTGTTACTATCTTAGTTTGTTTTGGCTACTGTAACAAAATACCAGAGGCTGGGTAGCTTATAAACAACAGAAATTTATTTCTTGGCCAGGCACAGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGTCCAAGGGGGGCAGATCTCTTGAGCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCCCATTTCTACTAAGAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCCAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGAGACACCCTGTCTCAAAAAAAAAAAAAAGAAAAGAAAGAAATTGATTTCTCACAGTTTGGGAGGCTGAGAAGGCCAAGATCAAGGCACGGGCAGAGGTGGAGTCTAGTGAGGGCATTCTTGCTGGTTCATAATCAGCCCCTTTTTGCTGCATGCTCACCCAGTGGAAGGGATGAGGGGTCTCTCTGGAGTCTCTTTTATAAGGGCACTAATCCCATTCATGAGGCTCTACCCTCATGACTGCCCAAAGGCCCCACCTCCTGACACTTTTTTTTTTTTTGAGATGGAGTCTCACTCCATCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGTAACCTCCACCTCCTGGGTGCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCATGCTATCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGCCCACCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACACCCAGCCGGTGATTAGGTTTCCACATATGAATTTTGAAGACACGAACATTCAGACCATAGCACTTCTTACCCTTGCACATATTGGCAGAGTCTCTATACTAACCATGGCAATCCCTATGGAGTGTTTTTGGTATTTGTATTGCATGGTTTTTCTGGCCATGCCTTGTAGTTGGACACTTTGTGGGTGGTTTCCAGATTTTCACCATCATAGATGCTGTCACTCAGTGTTATCTGTTCTCAGGTGAGGGTGGGGATCTTTTCTTCCTTGCGTTGGGTGAGCTTCTGAGTGAGCTTCTGTCATCTTTAGATGAAGTCTCAGAACAAGTGGGAATGTGGATGTGGCCTATCAAAAGAGATCACGTGAAGCTGGGCGCTGTGGCTTATGCCTATAATCCCAGCCCTTTGAGACCAGGGGTTCAAAGCCAGCCTGGGCAGCATAGCAAGATCCTATAAAAAAAAAAAAGAGTTTACTTGAATTACTGCTCCAAGAAGGGTTGAGACAAGGAGATTGTTCTGGGTTCCCAGGAAGCTTGTTTCACGTATGTTTTTTTTTTGTACAGAACGAAAAGCTGTCCATGAGAGCTGGTATTTGTAGAGCCCCCTATGAGAATTTACCAAGGGCTTTTCTACTCTTTCTTTTTCTTTCCTTTTCTTTTTTTTTTTTTAAAAATAGAGACAGGGTCTTGCTATGTTTCCCAAGCTGGTCTCCAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCACCCAAAGTACTGGGATTACAGGTGGAGCCACCGTGCCTGGCCTCCTACACTGTTTTATTTAATCCTAACCACGGCCCTGTGATCATTATCCCAATTTTAATGATGAGGAAACATTCATAGCATTTAAGTGACCAGCCCAAGCTCCCATGGCCTGTGAGTGGCCAAGTAGAGACGTGAACCCCAGGCCTCAAACCCTAGATCGCACACCAAGCAGCTTGTGGGCCGCAGAGCACCTGAGCCGTGTCTCACTGTCTGCCCAAGCCCTGATGCATGATACCCTCTTGCCGGCAGAGTGGAATACATGGAAAAGAGCAAGCATCTGCAGGAGCAGCTCAATGAACTCAAGACAGAAATCGAGGCCTTGAAACTGAAAGAGAGGGAGACAGCTCTGGATATTCTGCACAATGAGAACTCCGACAGGGGTGGCAGCAGCAAGCACAATACCATTAAAAAGGTACCCAGGGTCTCTTTCTTGTATTTTGCTGATCAGGACCATCATTAATGAAATGTGCGGTTGGCATCTGGTTTCCTCAGTAGCCAAGTCACTAGACTATTGGCATCTTTTGTATGTACTTAGTTGAGGAAATTTTTTAACTTATGCCAGAAAGGGAATTTAATCTGCCAATGACTATGAACCCATTGGCTGGATGGAAGTTGAGCTTGTGTTAAAAGCTCTGATGTAATGAACCCCTGTTACAGGGTGGATTTTGAGCCCTCATTTAGCAGTAAAGCATAATGCCCTTTTAAGCCAAGGGGTGTTATACCCAGGGAGCTGCCTTACTTTATGAGAAAGCAGAATGAAATGGAGGCTATTGAGAATGGACTTTCCCTCTAGTCTTGTGGTGTCTTTAAGTGGCAAGGACTATAAAACCAAACTGAATTTTTAACTTTTTTCATACTTAAAAGGAAGTGTCTAGGAAAGAACCTCTTTGTTTTAAAAGAGAAGACTTTATTACTTTGCAAATGGTTTCATATCTTTCTCTACTGGTATTTTGAGCTTTCAGCATTGTCGAGATTCAGAAGCTAAATTCCATACTAATTATCAGCCCAAGAGCATACCTCTCTCATTTGGGCCAAGCAGAAGGGTCCTCTCATACCAAATAATGCTCTGCTCTTAACTGATAGCCCAGGACCAGGTTAACACCTATAAAATAGGTGTTATTAAGATAAGACTGTCCATTGAGTTTAGGTGATACTGATACAGTTAATTTTTTATTCTTTACCTCAGTCTTTAAAATAGGCTTCCAGTTTTATGGACTGTCTCTGTTTTTAGTGGTTAAGCTGTATCTGAAAACTCCAGGGGATCTGTTTCTGCCTGCCTTCGTTGTTGGGTACAGTAGGCAGCCCTGACTTCTACCTCTCGACTCCAGTCACAACTGGCACCGGGTAGAGAATTCCTTTTAATAGTGCAACCTAGAAGGAAAGGCATTTCCACATTCCACATTCTTCTTTCCTCTGGCTTCTGTAATTTACTGGGCTTCCCTTCCAAAACAAAATTATTAAACAGTAAAGGGGAGTTCAAGGGAGGCCTCGGTCATTAAGGAAAGAGGTAAAACGATGGCTGAGCCAGTGAGCCAGTCAGCCCTTAAATGAACTGCCTCAGACACCCCATCTCACCCCTTACCCCCAGCCTTGTCATCTGGGTCCCAGGAACAGTCTCACCATTTCCACTGCTGCTGCAATGAGCAGTGCCCTCAGCCACAGAAACCTGCAGTGTGAGAGCTGGAGAGACCCCGTTCCAAGCCATTAAAACAAACAAAATCACTCATCACGATTTCAGGCCTATCCAAGCATTTTGCAGATGGCACTTATGGCATTGTTGATATCACAGGGTATGTTTTTGTTTTTCTTCATTTTATTTTGCTGGTTTAGCCTCAAGCCCAAGGCAGAAGACCTATCTGCATTTGAGCCCTCAAAGTAGGTTGTTCCCAGGTACTCTCTATGTGGTGATGGTGCTGCCCTCTGTGATACTAACCCGTGCATGAGCTTGCCTGTCTCTGTCCTCGGGCCACACTGAGCCCTTACGAGGGCAGGTGGTGCCTGGGTACTGGCCGCAGCATGCTTTGAGTCTAAAAGTAGGCACCCACCCTGTGAAGCCAGACCAGCCTCCAGGGCCCCAGAAGACTGCCTCGTTCCGAAGAGCATGTCATGGGGCTGTAGGACCAGCCATTCTTCCCATCTCGGGTCATTGTTGGGCTGGGGAAGGTTATGGCTTCTTGTCCAGTCAGGTGTGTCTAAAAGTCCTTTGTCTTGGTGGCATACTCCTAGCATGGAAATGGGGTCAATCTGGGCACTTTGGAGACTGGTGTGTTTAACTCAAGATCAAGACCTTTTATGCGTTGACAGCCTCTCAAGACCCATGGTCACACCTGGCAGC
ATATACATTTATGTGGTTGGGATCCGGGATCAGGGTGAAGCTGTTCTGTGTCTGCTATTTTATAGTTTGTATTTTGTTACTATCTTAGTTTGTTTTGGCTACTGTAACAAAATACCAGAGGCTGGGTAGCTTATAAACAACAGAAATTTATTTCTTGGCCAGGCACAGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGTCCAAGGGGGGCAGATCTCTTGAGCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCCCATTTCTACTAAGAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCCAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGAGACACCCTGTCTCAAAAAAAAAAAAAAGAAAAGAAAGAAATTGATTTCTCACAGTTTGGGAGGCTGAGAAGGCCAAGATCAAGGCACGGGCAGAGGTGGAGTCTAGTGAGGGCATTCTTGCTGGTTCATAATCAGCCCCTTTTTGCTGCATGCTCACCCAGTGGAAGGGATGAGGGGTCTCTCTGGAGTCTCTTTTATAAGGGCACTAATCCCATTCATGAGGCTCTACCCTCATGACTGCCCAAAGGCCCCACCTCCTGACACTTTTTTTTTTTTTGAGATGGAGTCTCACTCCATCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGTAACCTCCACCTCCTGGGTGCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCATGCTATCACGCCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGCCCACCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACACCCAGCCGGTGATTAGGTTTCCACATATGAATTTTGAAGACACGAACATTCAGACCATAGCACTTCTTACCCTTGCACATATTGGCAGAGTCTCTATACTAACCATGGCAATCCCTATGGAGTGTTTTTGGTATTTGTATTGCATGGTTTTTCTGGCCATGCCTTGTAGTTGGACACTTTGTGGGTGGTTTCCAGATTTTCACCATCATAGATGCTGTCACTCAGTGTTATCTGTTCTCAGGTGAGGGTGGGGATCTTTTCTTCCTTGCGTTGGGTGAGCTTCTGAGTGAGCTTCTGTCATCTTTAGATGAAGTCTCAGAACAAGTGGGAATGTGGATGTGGCCTATCAAAAGAGATCACGTGAAGCTGGGCGCTGTGGCTTATGCCTATAATCCCAGCCCTTTGAGACCAGGGGTTCAAAGCCAGCCTGGGCAGCATAGCAAGATCCTATAAAAAAAAAAAAGAGTTTACTTGAATTACTGCTCCAAGAAGGGTTGAGACAAGGAGATTGTTCTGGGTTCCCAGGAAGCTTGTTTCACGTATGTTTTTTTTTTGTACAGAACGAAAAGCTGTCCATGAGAGCTGGTATTTGTAGAGCCCCCTATGAGAATTTACCAAGGGCTTTTCTACTCTTTCTTTTTCTTTCCTTTTCTTTTTTTTTTTTTAAAAATAGAGACAGGGTCTTGCTATGTTTCCCAAGCTGGTCTCCAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCACCCAAAGTACTGGGATTACAGGTGGAGCCACCGTGCCTGGCCTCCTACACTGTTTTATTTAATCCTAACCACGGCCCTGTGATCATTATCCCAATTTTAATGATGAGGAAACATTCATAGCATTTAAGTGACCAGCCCAAGCTCCCATGGCCTGTGAGTGGCCAAGTAGAGACGTGAACCCCAGGCCTCAAACCCTAGATCGCACACCAAGCAGCTTGTGGGCCGCAGAGCACCTGAGCCGTGTCTCACTGTCTGCCCAAGCCCTGATGCATGATACCCTCTTGCCGGCAGAGTGGAATACATGGAAAAGAGCAAGCATCTGCAGGAGCCGCTCAATGAACTCAAGACAGAAATCGAGGCCTTGAAACTGAAAGAGAGGGAGACAGCTCTGGATATTCTGCACAATGAGAACTCCGACAGGGGTGGCAGCAGCAAGCACAATACCATTAAAAAGGTACCCAGGGTCTCTTTCTTGTATTTTGCTGATCAGGACCATCATTAATGAAATGTGCGGTTGGCATCTGGTTTCCTCAGTAGCCAAGTCACTAGACTATTGGCATCTTTTGTATGTACTTAGTTGAGGAAATTTTTTAACTTATGCCAGAAAGGGAATTTAATCTGCCAATGACTATGAACCCATTGGCTGGATGGAAGTTGAGCTTGTGTTAAAAGCTCTGATGTAATGAACCCCTGTTACAGGGTGGATTTTGAGCCCTCATTTAGCAGTAAAGCATAATGCCCTTTTAAGCCAAGGGGTGTTATACCCAGGGAGCTGCCTTACTTTATGAGAAAGCAGAATGAAATGGAGGCTATTGAGAATGGACTTTCCCTCTAGTCTTGTGGTGTCTTTAAGTGGCAAGGACTATAAAACCAAACTGAATTTTTAACTTTTTTCATACTTAAAAGGAAGTGTCTAGGAAAGAACCTCTTTGTTTTAAAAGAGAAGACTTTATTACTTTGCAAATGGTTTCATATCTTTCTCTACTGGTATTTTGAGCTTTCAGCATTGTCGAGATTCAGAAGCTAAATTCCATACTAATTATCAGCCCAAGAGCATACCTCTCTCATTTGGGCCAAGCAGAAGGGTCCTCTCATACCAAATAATGCTCTGCTCTTAACTGATAGCCCAGGACCAGGTTAACACCTATAAAATAGGTGTTATTAAGATAAGACTGTCCATTGAGTTTAGGTGATACTGATACAGTTAATTTTTTATTCTTTACCTCAGTCTTTAAAATAGGCTTCCAGTTTTATGGACTGTCTCTGTTTTTAGTGGTTAAGCTGTATCTGAAAACTCCAGGGGATCTGTTTCTGCCTGCCTTCGTTGTTGGGTACAGTAGGCAGCCCTGACTTCTACCTCTCGACTCCAGTCACAACTGGCACCGGGTAGAGAATTCCTTTTAATAGTGCAACCTAGAAGGAAAGGCATTTCCACATTCCACATTCTTCTTTCCTCTGGCTTCTGTAATTTACTGGGCTTCCCTTCCAAAACAAAATTATTAAACAGTAAAGGGGAGTTCAAGGGAGGCCTCGGTCATTAAGGAAAGAGGTAAAACGATGGCTGAGCCAGTGAGCCAGTCAGCCCTTAAATGAACTGCCTCAGACACCCCATCTCACCCCTTACCCCCAGCCTTGTCATCTGGGTCCCAGGAACAGTCTCACCATTTCCACTGCTGCTGCAATGAGCAGTGCCCTCAGCCACAGAAACCTGCAGTGTGAGAGCTGGAGAGACCCCGTTCCAAGCCATTAAAACAAACAAAATCACTCATCACGATTTCAGGCCTATCCAAGCATTTTGCAGATGGCACTTATGGCATTGTTGATATCACAGGGTATGTTTTTGTTTTTCTTCATTTTATTTTGCTGGTTTAGCCTCAAGCCCAAGGCAGAAGACCTATCTGCATTTGAGCCCTCAAAGTAGGTTGTTCCCAGGTACTCTCTATGTGGTGATGGTGCTGCCCTCTGTGATACTAACCCGTGCATGAGCTTGCCTGTCTCTGTCCTCGGGCCACACTGAGCCCTTACGAGGGCAGGTGGTGCCTGGGTACTGGCCGCAGCATGCTTTGAGTCTAAAAGTAGGCACCCACCCTGTGAAGCCAGACCAGCCTCCAGGGCCCCAGAAGACTGCCTCGTTCCGAAGAGCATGTCATGGGGCTGTAGGACCAGCCATTCTTCCCATCTCGGGTCATTGTTGGGCTGGGGAAGGTTATGGCTTCTTGTCCAGTCAGGTGTGTCTAAAAGTCCTTTGTCTTGGTGGCATACTCCTAGCATGGAAATGGGGTCAATCTGGGCACTTTGGAGACTGGTGTGTTTAACTCAAGATCAAGACCTTTTATGCGTTGACAGCCTCTCAAGACCCATGGTCACACCTGGCAGC
Task1_train_28701
A variant was discovered in gene MORC2 (MORC family CW-type zinc finger 2), Chromosome 22. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Charcot-Marie-Tooth disease axonal type 2Z
AAGGAAAGGTGGGATTTAGCAGCTAGGGAGGCATATAAAACATCATGGGTTAGTGAGAGCACATCTGCACAGACACAGAAGCCAAAAAGGGAAATGGTTGTGTACTAAATATGATAAACAGATGATATCACAGACATATCTAGAAAAAAACATAGAAAAAATAAAAATGTAAGTGAATAAGCAGTTTAAAAGGAATAAAAGTGGACACATGAAAAATTATGCAATCTTAGAAATATTAAGGAAATTAAATTATAAAACATGCATCTTTGCCTATGAAATTTGCAACAACATTTAAAAATAATGCTCTCATATACTGCTGGTAAATAATAGAAATTAACACATCTCTGGAGGGTACTTTAGAAATAGTTGCAAAAAGCCATAGAATTTTACAATGGACCTTTTAAGTCCTTTAATTTCACTTCTAGAAAGTCATCAAAACAATTATGTGTATGTGTATGTATTAATATAAAACATATACATGGCATTATCTCCCTATTTCTATTAAAAAATATATGTGTGTTATGTGTAGGTATTCATGAGTTCATGACAAGTTGGAAGGATGTATGGTTAATGATGGTTACCTCTAAGGCAGAATTTTTATTTTCTAGAGTTTTATACATTCTAAATGAATTGGACCACTTTGAAGTATATAAGCATTTTTTCTTAAGAATAAGCAAGGTGTTATTCTTAAAATAACACTGTTGGCAAATAGTACACGTGGACCTGGAGGTTGGGGTTGGAAAGCTTTGGCAAACAACGCGGGTGAGTGGAGGGTAAAACTGAGCCTGAGGGAACAGGAAAGCTACTGAAGGTTCCTGTCACAGGCAGAGCCCTGACACAGGCTGGCTTTGCCCACTGACCATGACCCACGTACCTGAAGGGCCTCCAGCTTCTCCTGCTGCTGGCGAATTTTCTCTGTCAGTTGTTTCTGCTTCTCTTCCTGCGTCTTCATGTCCTTTCTGAATGTTCCCAGGGGAACCTTCTGCTTTTGTTCAGAAGCCTCACACCTGTAGAGACAAGGTACTACAGAGGTCGTGGCAAACAGAGCGCCAAGCTCGGCAAGGACCTTTCTCTTCAGCCAGTCTACACTGTCTGTCACAAGAGCAACCACCTCAGAGTTCCCAATGCACAGAATTAATCTTATACACTGCAGGACATACATCTATTTTTATTTCTTGGGCAGTTATTAGGTGTGGCAAGACAGAGATGTAAGGTATGTGCACTGACCTCAAGAAACACAGTGAGGGGCAGGGGAGAAAAGTACCCACAATCCCCTTGTTAGACAATGTGCTCACCGGTCCTGTTCAGGATCAGGGTTCATGGAGCAAACCCAGGTGTCAGGGTAATCTTTTTCCACAGAACTCAGCTGGAAGGGGAGGGTTCTCCATTTCAGACACAAATCTGCAGAGAGCAAAAAAACCCCACATATCAGCCACGCCCACCAACTCTATCTGTAATCCGGGTTCCTCACAGGCCCACCACAATGATGCCCCAGACTTTGTAGGCAAAGATCTTCACTCGGGCTCCAACTCTGCCTATCCTTAGAGAATACTAATTCTTCTCAGGGACACTGATTCCAGGAAGGATGGAAACTTAATATGCTGGACTCTTAACACCCCCAGCCCCTCTCCCTTTTTTATCAAGATCCTGGCTCAGTCATCCACGCACACCAGAAACCATGTGGTACCAAACCAAGTGAGCCTGGCCTGGCTGCAGCTGGAGAGGCCTGGGAGGACAGATGACCTTCTTTCTCACTCAAGAGGGACAGGTGAAACTCAGCAAAGCCTCAAGACTGAGCTCACAGGGCCATCGTCAAACAGACTTGGATCCCTAGGGGACTGTAAGTCCATGAATGTCAGTCAAGTTAGGAGGCTGGCAGGAAGATAGAGAAAAGAGGCTTGTGGGCTGATGGAAATGAGTCGGGGGGGTCCAACCACCCAACTCACCGCACTGGATGGTGGTGGGGATTTCCATAGCTCTCCGGCGTTTGTAACGCAGCTCACTGGATGGGGGCTGGTTCCAGTTGGCAGAGAGGTAGCCAAACTCATCCCAGAACTTGATGATTCCCCTCTGGGCTGGAAAGCAAACACCGATACATCATGTTAGGAGCCAGCCTCTCTCTCTCCCTACATTCAGGTGAAGAGAAAAGGCAGAGGCCCAGCAGCCCAGCCCCATTACCGATGGCAATATCCTTCCAATACTGCGCCAGGTGCTCCCCCATTGCTCGGAGCAGGTGCCGGTACTCCTTGGCATCAGCAAAGTCCTGTTTGTTGTGTGTAGGCTCCAGGACCAGGTAGGGCACATCAACAACCCCAACAACCCCGCCACATGCCCTACAGGGAGAAAGAGAACAAGCTCTGTCACCCCACTGGCAACGCCCTCCTGCCAACTATCCTGGGCTAGACAGCTCTCTGTGGGTAGTACTCACATGCCCCCTTCCAGCTGTGGGCCCACTTTCTCATACATTTTGATCAGTCGGCTACAGTTGTAGATGAACATGCCATCCAGATCCCGGTGTTCAATGTTGACACCAAAAACAAAATTCAGTTCCTTAGGTTCTTTAAGTGCTCTAAGAAGACAAAAAAACTCAAGCAGATCTACACATCGGCACACAAGCACCATAGTGTTTAAGATGTGTTAAGCTTAAGCTTAAACTTGAAACATGTTAAGCCAAAAGTTTTGTATCTCTATTTGATGTGTAACCTGTTAGACTTGATATGGACATGCACTGGGCACCAACTCAAAGCATCCCTAATTAAAAACATGAGTGTGGCTTTTTGGCAACAGGGATGGTTGCCAAACCATTCATATTCATTAAATATGAATTGTTTATTACGAAGCTGCTGCAAATCTGTGCAAAGACAATTATATGTTGGAATAAACACCAGGTTATCGTCATACCTTCCCCAAAATTCCACTAGTATGATAGTAAATTATTATAATTTTTTTTTGAGACATAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCCGCTCACTGCAATCTCCGCACCCTGCATTCACACCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAATTATTATTATTTTAAAAGGCAAAAATTCACAAGAATAATAAGCATGTGCAATAAGACACCATCATGTGATTACTATCAACAAAAACTTAGAGCTGAAAAGCAGATGGATGAGGAGTGGACTGACTTGGAGAGAAAAAACCTGAAACCCATGCCTGTGCCAAGGAGGCCAACAAGAGGCAAAACAGTGAATCAAGCCACAGAGTCCAAAGAGGATCCAGACATGGAGGTGGGACAAGCAGGAAACTTAATGATCCAGGACAAATGCTGGTTCTAAATGCAAAAGTATACAACACTCAATCTCCAGCATTATTCTACATACATAACCACTGAGGAGAAAATGAATATGAAAAAATATATATGTAACATAAAAAATAGGGTCGTATCACCAGGTGGTAGAAGTATAAGGGAGTTTAAAAATGTTACTCCTTAAACATTTTATATTTTTCAAGTTTCATACAATGAGCATTTTATACATCCTTTAAATGAAAAGAAAGAAAGAAAAAGGGAAGAAAAGGTAAGACAGTGCCAAAGGATGGTTTTGGTGCTCGAGCCGAGGTTGTCAGCCCTGCCCTGTCTTTATGACTCAAAAAAGGGCTGAGAGCTAGGATTAAGACTTCCCTCCTGCAGGAGGCATTTGACAAGCATTTGGCATTAAAACAAAGCAGTCTTGGTGACAGAATAGCAACCTGTCAATAATCAGTCCAAAAGCTACGTCAGTTTAAAAGATCCAAGGACAGGCCTGGCACTCACCGCTGCTTGGCCTCCTTGATCCTCTTCTTGACATCGGCTTCTCTGCGCAGAGTGATGGCTCTGTTCTGGACCTGTCGCAACATCACCTGCACACATTGACATCAGGTGAGGG
AAGGAAAGGTGGGATTTAGCAGCTAGGGAGGCATATAAAACATCATGGGTTAGTGAGAGCACATCTGCACAGACACAGAAGCCAAAAAGGGAAATGGTTGTGTACTAAATATGATAAACAGATGATATCACAGACATATCTAGAAAAAAACATAGAAAAAATAAAAATGTAAGTGAATAAGCAGTTTAAAAGGAATAAAAGTGGACACATGAAAAATTATGCAATCTTAGAAATATTAAGGAAATTAAATTATAAAACATGCATCTTTGCCTATGAAATTTGCAACAACATTTAAAAATAATGCTCTCATATACTGCTGGTAAATAATAGAAATTAACACATCTCTGGAGGGTACTTTAGAAATAGTTGCAAAAAGCCATAGAATTTTACAATGGACCTTTTAAGTCCTTTAATTTCACTTCTAGAAAGTCATCAAAACAATTATGTGTATGTGTATGTATTAATATAAAACATATACATGGCATTATCTCCCTATTTCTATTAAAAAATATATGTGTGTTATGTGTAGGTATTCATGAGTTCATGACAAGTTGGAAGGATGTATGGTTAATGATGGTTACCTCTAAGGCAGAATTTTTATTTTCTAGAGTTTTATACATTCTAAATGAATTGGACCACTTTGAAGTATATAAGCATTTTTTCTTAAGAATAAGCAAGGTGTTATTCTTAAAATAACACTGTTGGCAAATAGTACACGTGGACCTGGAGGTTGGGGTTGGAAAGCTTTGGCAAACAACGCGGGTGAGTGGAGGGTAAAACTGAGCCTGAGGGAACAGGAAAGCTACTGAAGGTTCCTGTCACAGGCAGAGCCCTGACACAGGCTGGCTTTGCCCACTGACCATGACCCACGTACCTGAAGGGCCTCCAGCTTCTCCTGCTGCTGGCGAATTTTCTCTGTCAGTTGTTTCTGCTTCTCTTCCTGCGTCTTCATGTCCTTTCTGAATGTTCCCAGGGGAACCTTCTGCTTTTGTTCAGAAGCCTCACACCTGTAGAGACAAGGTACTACAGAGGTCGTGGCAAACAGAGCGCCAAGCTCGGCAAGGACCTTTCTCTTCAGCCAGTCTACACTGTCTGTCACAAGAGCAACCACCTCAGAGTTCCCAATGCACAGAATTAATCTTATACACTGCAGGACATACATCTATTTTTATTTCTTGGGCAGTTATTAGGTGTGGCAAGACAGAGATGTAAGGTATGTGCACTGACCTCAAGAAACACAGTGAGGGGCAGGGGAGAAAAGTACCCACAATCCCCTTGTTAGACAATGTGCTCACCGGTCCTGTTCAGGATCAGGGTTCATGGAGCAAACCCAGGTGTCAGGGTAATCTTTTTCCACAGAACTCAGCTGGAAGGGGAGGGTTCTCCATTTCAGACACAAATCTGCAGAGAGCAAAAAAACCCCACATATCAGCCACGCCCACCAACTCTATCTGTAATCCGGGTTCCTCACAGGCCCACCACAATGATGCCCCAGACTTTGTAGGCAAAGATCTTCACTCGGGCTCCAACTCTGCCTATCCTTAGAGAATACTAATTCTTCTCAGGGACACTGATTCCAGGAAGGATGGAAACTTAATATGCTGGACTCTTAACACCCCCAGCCCCTCTCCCTTTTTTATCAAGATCCTGGCTCAGTCATCCACGCACACCAGAAACCATGTGGTACCAAACCAAGTGAGCCTGGCCTGGCTGCAGCTGGAGAGGCCTGGGAGGACAGATGACCTTCTTTCTCACTCAAGAGGGACAGGTGAAACTCAGCAAAGCCTCAAGACTGAGCTCACAGGGCCATCGTCAAACAGACTTGGATCCCTAGGGGACTGTAAGTCCATGAATGTCAGTCAAGTTAGGAGGCTGGCAGGAAGATAGAGAAAAGAGGCTTGTGGGCTGATGGAAATGAGTCGGGGGGGTCCAACCACCCAACTCACCGCACTGGATGGTGGTGGGGATTTCCATAGCTCTCCGGCGTTTGTAACGCAGCTCACTGGATGGGGGCTGGTTCCAGTTGGCAGAGAGGTAGCCAAACTCATTCCAGAACTTGATGATTCCCCTCTGGGCTGGAAAGCAAACACCGATACATCATGTTAGGAGCCAGCCTCTCTCTCTCCCTACATTCAGGTGAAGAGAAAAGGCAGAGGCCCAGCAGCCCAGCCCCATTACCGATGGCAATATCCTTCCAATACTGCGCCAGGTGCTCCCCCATTGCTCGGAGCAGGTGCCGGTACTCCTTGGCATCAGCAAAGTCCTGTTTGTTGTGTGTAGGCTCCAGGACCAGGTAGGGCACATCAACAACCCCAACAACCCCGCCACATGCCCTACAGGGAGAAAGAGAACAAGCTCTGTCACCCCACTGGCAACGCCCTCCTGCCAACTATCCTGGGCTAGACAGCTCTCTGTGGGTAGTACTCACATGCCCCCTTCCAGCTGTGGGCCCACTTTCTCATACATTTTGATCAGTCGGCTACAGTTGTAGATGAACATGCCATCCAGATCCCGGTGTTCAATGTTGACACCAAAAACAAAATTCAGTTCCTTAGGTTCTTTAAGTGCTCTAAGAAGACAAAAAAACTCAAGCAGATCTACACATCGGCACACAAGCACCATAGTGTTTAAGATGTGTTAAGCTTAAGCTTAAACTTGAAACATGTTAAGCCAAAAGTTTTGTATCTCTATTTGATGTGTAACCTGTTAGACTTGATATGGACATGCACTGGGCACCAACTCAAAGCATCCCTAATTAAAAACATGAGTGTGGCTTTTTGGCAACAGGGATGGTTGCCAAACCATTCATATTCATTAAATATGAATTGTTTATTACGAAGCTGCTGCAAATCTGTGCAAAGACAATTATATGTTGGAATAAACACCAGGTTATCGTCATACCTTCCCCAAAATTCCACTAGTATGATAGTAAATTATTATAATTTTTTTTTGAGACATAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCCGCTCACTGCAATCTCCGCACCCTGCATTCACACCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAATTATTATTATTTTAAAAGGCAAAAATTCACAAGAATAATAAGCATGTGCAATAAGACACCATCATGTGATTACTATCAACAAAAACTTAGAGCTGAAAAGCAGATGGATGAGGAGTGGACTGACTTGGAGAGAAAAAACCTGAAACCCATGCCTGTGCCAAGGAGGCCAACAAGAGGCAAAACAGTGAATCAAGCCACAGAGTCCAAAGAGGATCCAGACATGGAGGTGGGACAAGCAGGAAACTTAATGATCCAGGACAAATGCTGGTTCTAAATGCAAAAGTATACAACACTCAATCTCCAGCATTATTCTACATACATAACCACTGAGGAGAAAATGAATATGAAAAAATATATATGTAACATAAAAAATAGGGTCGTATCACCAGGTGGTAGAAGTATAAGGGAGTTTAAAAATGTTACTCCTTAAACATTTTATATTTTTCAAGTTTCATACAATGAGCATTTTATACATCCTTTAAATGAAAAGAAAGAAAGAAAAAGGGAAGAAAAGGTAAGACAGTGCCAAAGGATGGTTTTGGTGCTCGAGCCGAGGTTGTCAGCCCTGCCCTGTCTTTATGACTCAAAAAAGGGCTGAGAGCTAGGATTAAGACTTCCCTCCTGCAGGAGGCATTTGACAAGCATTTGGCATTAAAACAAAGCAGTCTTGGTGACAGAATAGCAACCTGTCAATAATCAGTCCAAAAGCTACGTCAGTTTAAAAGATCCAAGGACAGGCCTGGCACTCACCGCTGCTTGGCCTCCTTGATCCTCTTCTTGACATCGGCTTCTCTGCGCAGAGTGATGGCTCTGTTCTGGACCTGTCGCAACATCACCTGCACACATTGACATCAGGTGAGGG
Task1_train_28702
Gene MORC2 (MORC family CW-type zinc finger 2) on Chromosome 22 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Charcot-Marie-Tooth disease axonal type 2Z
TTGCAACAACATTTAAAAATAATGCTCTCATATACTGCTGGTAAATAATAGAAATTAACACATCTCTGGAGGGTACTTTAGAAATAGTTGCAAAAAGCCATAGAATTTTACAATGGACCTTTTAAGTCCTTTAATTTCACTTCTAGAAAGTCATCAAAACAATTATGTGTATGTGTATGTATTAATATAAAACATATACATGGCATTATCTCCCTATTTCTATTAAAAAATATATGTGTGTTATGTGTAGGTATTCATGAGTTCATGACAAGTTGGAAGGATGTATGGTTAATGATGGTTACCTCTAAGGCAGAATTTTTATTTTCTAGAGTTTTATACATTCTAAATGAATTGGACCACTTTGAAGTATATAAGCATTTTTTCTTAAGAATAAGCAAGGTGTTATTCTTAAAATAACACTGTTGGCAAATAGTACACGTGGACCTGGAGGTTGGGGTTGGAAAGCTTTGGCAAACAACGCGGGTGAGTGGAGGGTAAAACTGAGCCTGAGGGAACAGGAAAGCTACTGAAGGTTCCTGTCACAGGCAGAGCCCTGACACAGGCTGGCTTTGCCCACTGACCATGACCCACGTACCTGAAGGGCCTCCAGCTTCTCCTGCTGCTGGCGAATTTTCTCTGTCAGTTGTTTCTGCTTCTCTTCCTGCGTCTTCATGTCCTTTCTGAATGTTCCCAGGGGAACCTTCTGCTTTTGTTCAGAAGCCTCACACCTGTAGAGACAAGGTACTACAGAGGTCGTGGCAAACAGAGCGCCAAGCTCGGCAAGGACCTTTCTCTTCAGCCAGTCTACACTGTCTGTCACAAGAGCAACCACCTCAGAGTTCCCAATGCACAGAATTAATCTTATACACTGCAGGACATACATCTATTTTTATTTCTTGGGCAGTTATTAGGTGTGGCAAGACAGAGATGTAAGGTATGTGCACTGACCTCAAGAAACACAGTGAGGGGCAGGGGAGAAAAGTACCCACAATCCCCTTGTTAGACAATGTGCTCACCGGTCCTGTTCAGGATCAGGGTTCATGGAGCAAACCCAGGTGTCAGGGTAATCTTTTTCCACAGAACTCAGCTGGAAGGGGAGGGTTCTCCATTTCAGACACAAATCTGCAGAGAGCAAAAAAACCCCACATATCAGCCACGCCCACCAACTCTATCTGTAATCCGGGTTCCTCACAGGCCCACCACAATGATGCCCCAGACTTTGTAGGCAAAGATCTTCACTCGGGCTCCAACTCTGCCTATCCTTAGAGAATACTAATTCTTCTCAGGGACACTGATTCCAGGAAGGATGGAAACTTAATATGCTGGACTCTTAACACCCCCAGCCCCTCTCCCTTTTTTATCAAGATCCTGGCTCAGTCATCCACGCACACCAGAAACCATGTGGTACCAAACCAAGTGAGCCTGGCCTGGCTGCAGCTGGAGAGGCCTGGGAGGACAGATGACCTTCTTTCTCACTCAAGAGGGACAGGTGAAACTCAGCAAAGCCTCAAGACTGAGCTCACAGGGCCATCGTCAAACAGACTTGGATCCCTAGGGGACTGTAAGTCCATGAATGTCAGTCAAGTTAGGAGGCTGGCAGGAAGATAGAGAAAAGAGGCTTGTGGGCTGATGGAAATGAGTCGGGGGGGTCCAACCACCCAACTCACCGCACTGGATGGTGGTGGGGATTTCCATAGCTCTCCGGCGTTTGTAACGCAGCTCACTGGATGGGGGCTGGTTCCAGTTGGCAGAGAGGTAGCCAAACTCATCCCAGAACTTGATGATTCCCCTCTGGGCTGGAAAGCAAACACCGATACATCATGTTAGGAGCCAGCCTCTCTCTCTCCCTACATTCAGGTGAAGAGAAAAGGCAGAGGCCCAGCAGCCCAGCCCCATTACCGATGGCAATATCCTTCCAATACTGCGCCAGGTGCTCCCCCATTGCTCGGAGCAGGTGCCGGTACTCCTTGGCATCAGCAAAGTCCTGTTTGTTGTGTGTAGGCTCCAGGACCAGGTAGGGCACATCAACAACCCCAACAACCCCGCCACATGCCCTACAGGGAGAAAGAGAACAAGCTCTGTCACCCCACTGGCAACGCCCTCCTGCCAACTATCCTGGGCTAGACAGCTCTCTGTGGGTAGTACTCACATGCCCCCTTCCAGCTGTGGGCCCACTTTCTCATACATTTTGATCAGTCGGCTACAGTTGTAGATGAACATGCCATCCAGATCCCGGTGTTCAATGTTGACACCAAAAACAAAATTCAGTTCCTTAGGTTCTTTAAGTGCTCTAAGAAGACAAAAAAACTCAAGCAGATCTACACATCGGCACACAAGCACCATAGTGTTTAAGATGTGTTAAGCTTAAGCTTAAACTTGAAACATGTTAAGCCAAAAGTTTTGTATCTCTATTTGATGTGTAACCTGTTAGACTTGATATGGACATGCACTGGGCACCAACTCAAAGCATCCCTAATTAAAAACATGAGTGTGGCTTTTTGGCAACAGGGATGGTTGCCAAACCATTCATATTCATTAAATATGAATTGTTTATTACGAAGCTGCTGCAAATCTGTGCAAAGACAATTATATGTTGGAATAAACACCAGGTTATCGTCATACCTTCCCCAAAATTCCACTAGTATGATAGTAAATTATTATAATTTTTTTTTGAGACATAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCCGCTCACTGCAATCTCCGCACCCTGCATTCACACCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAATTATTATTATTTTAAAAGGCAAAAATTCACAAGAATAATAAGCATGTGCAATAAGACACCATCATGTGATTACTATCAACAAAAACTTAGAGCTGAAAAGCAGATGGATGAGGAGTGGACTGACTTGGAGAGAAAAAACCTGAAACCCATGCCTGTGCCAAGGAGGCCAACAAGAGGCAAAACAGTGAATCAAGCCACAGAGTCCAAAGAGGATCCAGACATGGAGGTGGGACAAGCAGGAAACTTAATGATCCAGGACAAATGCTGGTTCTAAATGCAAAAGTATACAACACTCAATCTCCAGCATTATTCTACATACATAACCACTGAGGAGAAAATGAATATGAAAAAATATATATGTAACATAAAAAATAGGGTCGTATCACCAGGTGGTAGAAGTATAAGGGAGTTTAAAAATGTTACTCCTTAAACATTTTATATTTTTCAAGTTTCATACAATGAGCATTTTATACATCCTTTAAATGAAAAGAAAGAAAGAAAAAGGGAAGAAAAGGTAAGACAGTGCCAAAGGATGGTTTTGGTGCTCGAGCCGAGGTTGTCAGCCCTGCCCTGTCTTTATGACTCAAAAAAGGGCTGAGAGCTAGGATTAAGACTTCCCTCCTGCAGGAGGCATTTGACAAGCATTTGGCATTAAAACAAAGCAGTCTTGGTGACAGAATAGCAACCTGTCAATAATCAGTCCAAAAGCTACGTCAGTTTAAAAGATCCAAGGACAGGCCTGGCACTCACCGCTGCTTGGCCTCCTTGATCCTCTTCTTGACATCGGCTTCTCTGCGCAGAGTGATGGCTCTGTTCTGGACCTGTCGCAACATCACCTGCACACATTGACATCAGGTGAGGGGAGGTGGCACTCTAGGCCACAGCAGGGAATATTGAAACATTACATCTAAGACATCTCAATTTATCTCAAAGATGTAAAACCACACCTGGAAATTTACTTCTTTCTACAGAAAACAGCCCTCACTGGGGACAAACTCAAAAGCTGTGTTTTACTTGACCAGGCTCATGGGACATGGGCTCCTAGTGCCAGAAACGCTGGAGAACAGCCGCCTGGGCCGGGACCTTACCCTGGAGTCCCGCGTGAGGTCTCCACCTAGGCGTACTTCTAATGTCCGAGCTT
TTGCAACAACATTTAAAAATAATGCTCTCATATACTGCTGGTAAATAATAGAAATTAACACATCTCTGGAGGGTACTTTAGAAATAGTTGCAAAAAGCCATAGAATTTTACAATGGACCTTTTAAGTCCTTTAATTTCACTTCTAGAAAGTCATCAAAACAATTATGTGTATGTGTATGTATTAATATAAAACATATACATGGCATTATCTCCCTATTTCTATTAAAAAATATATGTGTGTTATGTGTAGGTATTCATGAGTTCATGACAAGTTGGAAGGATGTATGGTTAATGATGGTTACCTCTAAGGCAGAATTTTTATTTTCTAGAGTTTTATACATTCTAAATGAATTGGACCACTTTGAAGTATATAAGCATTTTTTCTTAAGAATAAGCAAGGTGTTATTCTTAAAATAACACTGTTGGCAAATAGTACACGTGGACCTGGAGGTTGGGGTTGGAAAGCTTTGGCAAACAACGCGGGTGAGTGGAGGGTAAAACTGAGCCTGAGGGAACAGGAAAGCTACTGAAGGTTCCTGTCACAGGCAGAGCCCTGACACAGGCTGGCTTTGCCCACTGACCATGACCCACGTACCTGAAGGGCCTCCAGCTTCTCCTGCTGCTGGCGAATTTTCTCTGTCAGTTGTTTCTGCTTCTCTTCCTGCGTCTTCATGTCCTTTCTGAATGTTCCCAGGGGAACCTTCTGCTTTTGTTCAGAAGCCTCACACCTGTAGAGACAAGGTACTACAGAGGTCGTGGCAAACAGAGCGCCAAGCTCGGCAAGGACCTTTCTCTTCAGCCAGTCTACACTGTCTGTCACAAGAGCAACCACCTCAGAGTTCCCAATGCACAGAATTAATCTTATACACTGCAGGACATACATCTATTTTTATTTCTTGGGCAGTTATTAGGTGTGGCAAGACAGAGATGTAAGGTATGTGCACTGACCTCAAGAAACACAGTGAGGGGCAGGGGAGAAAAGTACCCACAATCCCCTTGTTAGACAATGTGCTCACCGGTCCTGTTCAGGATCAGGGTTCATGGAGCAAACCCAGGTGTCAGGGTAATCTTTTTCCACAGAACTCAGCTGGAAGGGGAGGGTTCTCCATTTCAGACACAAATCTGCAGAGAGCAAAAAAACCCCACATATCAGCCACGCCCACCAACTCTATCTGTAATCCGGGTTCCTCACAGGCCCACCACAATGATGCCCCAGACTTTGTAGGCAAAGATCTTCACTCGGGCTCCAACTCTGCCTATCCTTAGAGAATACTAATTCTTCTCAGGGACACTGATTCCAGGAAGGATGGAAACTTAATATGCTGGACTCTTAACACCCCCAGCCCCTCTCCCTTTTTTATCAAGATCCTGGCTCAGTCATCCACGCACACCAGAAACCATGTGGTACCAAACCAAGTGAGCCTGGCCTGGCTGCAGCTGGAGAGGCCTGGGAGGACAGATGACCTTCTTTCTCACTCAAGAGGGACAGGTGAAACTCAGCAAAGCCTCAAGACTGAGCTCACAGGGCCATCGTCAAACAGACTTGGATCCCTAGGGGACTGTAAGTCCATGAATGTCAGTCAAGTTAGGAGGCTGGCAGGAAGATAGAGAAAAGAGGCTTGTGGGCTGATGGAAATGAGTCGGGGGGGTCCAACCACCCAACTCACCGCACTGGATGGTGGTGGGGATTTCCATAGCTCTCCGGCGTTTGTAACGCAGCTCACTGGATGGGGGCTGGTTCCAGTTGGCAGAGAGGTAGCCAAACTCATCCCAGAACTTGATGATTCCCCTCTGGGCTGGAAAGCAAACACCGATACATCATGTTAGGAGCCAGCCTCTCTCTCTCCCTACATTCAGGTGAAGAGAAAAGGCAGAGGCCCAGCAGCCCAGCCCCATTACCGATGGCAATATCCTTCCAATACTGCGCCAGGTGCTCCCCCATTGCTCGGAGCAGGTGCCGGTACTCCTTGGCATCAGCAAAGTCCTGTTTGTTGTGTGTAGGCTCCAGGACCAGGTAGGGCACATCAACAACCCCAACAACCCCGCCATATGCCCTACAGGGAGAAAGAGAACAAGCTCTGTCACCCCACTGGCAACGCCCTCCTGCCAACTATCCTGGGCTAGACAGCTCTCTGTGGGTAGTACTCACATGCCCCCTTCCAGCTGTGGGCCCACTTTCTCATACATTTTGATCAGTCGGCTACAGTTGTAGATGAACATGCCATCCAGATCCCGGTGTTCAATGTTGACACCAAAAACAAAATTCAGTTCCTTAGGTTCTTTAAGTGCTCTAAGAAGACAAAAAAACTCAAGCAGATCTACACATCGGCACACAAGCACCATAGTGTTTAAGATGTGTTAAGCTTAAGCTTAAACTTGAAACATGTTAAGCCAAAAGTTTTGTATCTCTATTTGATGTGTAACCTGTTAGACTTGATATGGACATGCACTGGGCACCAACTCAAAGCATCCCTAATTAAAAACATGAGTGTGGCTTTTTGGCAACAGGGATGGTTGCCAAACCATTCATATTCATTAAATATGAATTGTTTATTACGAAGCTGCTGCAAATCTGTGCAAAGACAATTATATGTTGGAATAAACACCAGGTTATCGTCATACCTTCCCCAAAATTCCACTAGTATGATAGTAAATTATTATAATTTTTTTTTGAGACATAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCCGCTCACTGCAATCTCCGCACCCTGCATTCACACCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAATTATTATTATTTTAAAAGGCAAAAATTCACAAGAATAATAAGCATGTGCAATAAGACACCATCATGTGATTACTATCAACAAAAACTTAGAGCTGAAAAGCAGATGGATGAGGAGTGGACTGACTTGGAGAGAAAAAACCTGAAACCCATGCCTGTGCCAAGGAGGCCAACAAGAGGCAAAACAGTGAATCAAGCCACAGAGTCCAAAGAGGATCCAGACATGGAGGTGGGACAAGCAGGAAACTTAATGATCCAGGACAAATGCTGGTTCTAAATGCAAAAGTATACAACACTCAATCTCCAGCATTATTCTACATACATAACCACTGAGGAGAAAATGAATATGAAAAAATATATATGTAACATAAAAAATAGGGTCGTATCACCAGGTGGTAGAAGTATAAGGGAGTTTAAAAATGTTACTCCTTAAACATTTTATATTTTTCAAGTTTCATACAATGAGCATTTTATACATCCTTTAAATGAAAAGAAAGAAAGAAAAAGGGAAGAAAAGGTAAGACAGTGCCAAAGGATGGTTTTGGTGCTCGAGCCGAGGTTGTCAGCCCTGCCCTGTCTTTATGACTCAAAAAAGGGCTGAGAGCTAGGATTAAGACTTCCCTCCTGCAGGAGGCATTTGACAAGCATTTGGCATTAAAACAAAGCAGTCTTGGTGACAGAATAGCAACCTGTCAATAATCAGTCCAAAAGCTACGTCAGTTTAAAAGATCCAAGGACAGGCCTGGCACTCACCGCTGCTTGGCCTCCTTGATCCTCTTCTTGACATCGGCTTCTCTGCGCAGAGTGATGGCTCTGTTCTGGACCTGTCGCAACATCACCTGCACACATTGACATCAGGTGAGGGGAGGTGGCACTCTAGGCCACAGCAGGGAATATTGAAACATTACATCTAAGACATCTCAATTTATCTCAAAGATGTAAAACCACACCTGGAAATTTACTTCTTTCTACAGAAAACAGCCCTCACTGGGGACAAACTCAAAAGCTGTGTTTTACTTGACCAGGCTCATGGGACATGGGCTCCTAGTGCCAGAAACGCTGGAGAACAGCCGCCTGGGCCGGGACCTTACCCTGGAGTCCCGCGTGAGGTCTCCACCTAGGCGTACTTCTAATGTCCGAGCTT
Task1_train_28703
A variant was discovered on Chromosome 22, affecting MORC2 (MORC family CW-type zinc finger 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Inborn genetic diseases
CAAAAAAGGGCTGAGAGCTAGGATTAAGACTTCCCTCCTGCAGGAGGCATTTGACAAGCATTTGGCATTAAAACAAAGCAGTCTTGGTGACAGAATAGCAACCTGTCAATAATCAGTCCAAAAGCTACGTCAGTTTAAAAGATCCAAGGACAGGCCTGGCACTCACCGCTGCTTGGCCTCCTTGATCCTCTTCTTGACATCGGCTTCTCTGCGCAGAGTGATGGCTCTGTTCTGGACCTGTCGCAACATCACCTGCACACATTGACATCAGGTGAGGGGAGGTGGCACTCTAGGCCACAGCAGGGAATATTGAAACATTACATCTAAGACATCTCAATTTATCTCAAAGATGTAAAACCACACCTGGAAATTTACTTCTTTCTACAGAAAACAGCCCTCACTGGGGACAAACTCAAAAGCTGTGTTTTACTTGACCAGGCTCATGGGACATGGGCTCCTAGTGCCAGAAACGCTGGAGAACAGCCGCCTGGGCCGGGACCTTACCCTGGAGTCCCGCGTGAGGTCTCCACCTAGGCGTACTTCTAATGTCCGAGCTTTGCTCTCTGCCTCCCGCGCCTTCTCTTCAGCTGAAACCCAGAAGAGAACATGGTAAGAAATGCAAAGGTTCAAAACTCTTGGTCATCCCTCCTGGATCCACAGTACTGGACACGAAGTGTGTACACCACCAAGGAAAAAAAGAGTAGGGGGAGCTATGGCTGGTGAGCAATGTGAGGGCAGCCTCTGTGCCTGGACGGCAGTCAGTCACAGAAGGAAAATCTGGCATTCAAACCTATCACGGAGGCCCCAAGGAAACTTTACAAATGAACCAGAACAGGTTTAAAAAAAAAAAAAAAACACCTAAGGCAACCAGTTGAACACTCAGCTTGAGCTGGAAGCTAAAGAAGTCTTCAGCCAATCACTCTCCAACAAGCAGCCGAGAAACCCTGAGAAACCCTGAACAGCGAGAGAGCCCCTGAGATGTTTGCCCTGAAGTCAGGAAAAGCAATTTCACAAGTATTTGCACCAGAGAACTCAGTGGGATTCTTCAATTGGGATAAGCCAAAGAGCTGACACTTTTAGGCCCTATAAATGGCAGAAGAAGAGAAAGTGGAGTGTAGAAAGAAGAAATGCTGAGGGAGTTGGCATGTAGTGAAAGGGGCTGCAAAGGAACTGAACTATGCTTCAGGAGACCAGCCTTGTCCCTGAGTTGTGGACTCAGCCTTTTCCTGGAACCCCACTTTGCCCACAAGCAGCATACCCCAGATGCACACCCCCCCAACTCCTGCACCCAGAGTGGCATTACCAATCCTTGCTACGTGCTCTGCTTTCTTCACCTCCTGCTCCGCACGGGTCTTGAAACGGCTTGACGTGTACTTGTACATCCTGATCAGTAGAAAAAGCAAGCTGATGGCCCACGCAGCAGTGGGGCAGGTGGCACACCCAAGCACAGGAAGCACCCTGCCTTCCTGCCTCCTCCCAAGCTGTGCTGTCCTGGCCCCTCATGATGAGACAAATCCAAGCTCAATTCAGCAAAAAGGTGCAGTTCCTTATTCCACTTGCCCTTAGCCTCCTGCTGTCTTTGATAAGCAACCTCACCATTCACCAGGGTTGTCATTCATCCCACAGCAGAAACAAACCTCAGGAGTAAGCCAAGCCCACTGCTTTCCTATATAGTGTCTAAAGGCCCCTTGGCCCTAAAGCCAAGAGACTCAGACAGCTCACTGAGCCAGGCAGGGCACCCTCCCTGTCACAGAGGCACACATACTCAATGAGCTTAGCCAGCCACCTCCACAGCTGATCTGTCCCTCCTCTAGGACCCAGAACTGACCCTGTGACCAATCACAGGCAACTTAAAGTCCCAAACGTAGTCAGCACTGCCAGAGCCTCTTATACAGCATCCCTCTAACAATGCCCCAGAGAAACGCGGCCACATCCTCGACCCATGGGAGACAGCAGGCCAAGGGGCACTGGCCCCTACCTGGGCTTGTACAGGCAGCAGGAGAGCCTCTTGGTCTGCACCTTGTGCCCATGGATGAAGATCCTCATCCGGGGATCAATATAGAGCACAGCGGCATAGGCACGGAACGAGCGCCGCTCTGGCTTCCTGGAGAGGGCAAAAACAGAGAAGTGCTGTCACCTGCTCCACAACAGGCCTGACCAAGGGCACAACATCCTCTCTGCAGGCTCTCCACCTTTCCATGTTAGGTACTGACTTCTGCTGCTGCCCTGAACTGGTGCTCCCTTAGTGTGAGCACCACATCCCGCCCCTCTCACGTCCTCAGCACAGGCACCCCACAGGCAACTGAGCTGGCCCTACATACTACCCTACCACAGAACACTGGGCAATGAATGTGCTCTCCCCTCTTTCCCTGAAGCCATCTCCTGAGAGCACAAACGCCAGTTCCAGGGCCTCCCTCCCTTCCCAGCCACACTCACGTGCCCTCTGGGGACGTCTCTGCCATCTGGATATCTCTTGGATTTGAGATTATGTCTAGTTCTGGCTCTCCATTATCCATGAGTTTGAGATTGAAGATGATCACCAATGTTCCTGAGAAACAGAAATCTTTTGTCCTGCCAGATCCCCCGGCCCACCCCCACACTACTTGTGATTCTGGAGCTCCCAGATTCTAGGGGCTACAGGCTCAAAGCCTACTTACCGCTGTCCCCAGGAATCTTCATAAACTGGGTCATCACTTCCTCCTCAGTGCGGAATGGAGAGTACTTATAGATGAGTTCTGTCTCAATGGCAAATTTCTCTACATTGTCTGTGACAGGTTCCCGGGTCCGAGCATTCCAGGTGGGCAGTGGGACTATCACCTGTGGAGTAAACATGAGCAGGCACTTTAAGGGAAGCCCCAGAACAGCCTTCCTCCCAAATGTGCATCTCTCTTGTCCCTCCCCACAGCAGCTCCACACTGCCCTGTAGGTGAGGCCCAAGCTCCACAGCCTGGCACCAGAGGCTCTGTGAGCTTCAGGGCTTCTGCCTCTTCCCAAGACTCAGCCACACAAGACTACTTCCTTCAGGAGATGTTGGTTTATGTGCTTAGGGTCTCTGCATGAGAAGTTCCCTGCTTGGGACGTCCCTGGTCATTTTCTTAATTTGGTAAAAATTCTACTCTTACCACTAGGGAAAATATATTTGCAATTATCTAGTGAATCAGTAAATACACATAACATAACCTAAAACTCAGCAATTCCACTCCTAGGTACATACCCTAGGAGAAACTTTTGTACATATGTACCAGTAAACATGTACAAAAATAACCCAGGCCTGGTGCAGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGATGGACTGCCTGAGCTCAGGAGTTTGAGACCAGTCTGGGCAACATGGTGAATCCCGGTCTCCACTAAAATACAAAAAATTAGCCGGGCGTGGCAGCGTGCGTCTGTAGCCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAATAAATAAATAAATAAAAATAACCCAAATATCCATTCTAGAGTGGCCAAATTAAACTGTACAATGGAACACTATATAGTGATACAAATGAACTAACCACTACTAGCATCAACATGGATGAACAACATAAACACAGTGTTATATGAAATAGGATACAAAAAATACCTACAGTAAGAGTCCATTTCTAAAAAATTCACAAATAGGCAAAACTAAACTATTATTTAAAAATGCATACAAGGGTGACAAACTATAGTGAAAAAGAAGGAAATCATTATCACAAAAGTTACCTGAAGGCAGTTCCTTCGGGGGCACAAGAAGAAATATGACTGATGAGGGCACACAGGACACTTCTAACATCAGTCTGTGATGGTGGCAACACAGGTGTTGCCTTTAAAATTGTCCTCTGAACTGCATAAATATTTCAATACACTCTTCCATTTATGTGAAATTTAATTTAAATAATGTCTAAGTGATGTTTTAAAAAAATCCTACTCTTTCTTCAAAAACCCAACCTCATATGCCACTTCCCCAGAGGCTCCTCCC
CAAAAAAGGGCTGAGAGCTAGGATTAAGACTTCCCTCCTGCAGGAGGCATTTGACAAGCATTTGGCATTAAAACAAAGCAGTCTTGGTGACAGAATAGCAACCTGTCAATAATCAGTCCAAAAGCTACGTCAGTTTAAAAGATCCAAGGACAGGCCTGGCACTCACCGCTGCTTGGCCTCCTTGATCCTCTTCTTGACATCGGCTTCTCTGCGCAGAGTGATGGCTCTGTTCTGGACCTGTCGCAACATCACCTGCACACATTGACATCAGGTGAGGGGAGGTGGCACTCTAGGCCACAGCAGGGAATATTGAAACATTACATCTAAGACATCTCAATTTATCTCAAAGATGTAAAACCACACCTGGAAATTTACTTCTTTCTACAGAAAACAGCCCTCACTGGGGACAAACTCAAAAGCTGTGTTTTACTTGACCAGGCTCATGGGACATGGGCTCCTAGTGCCAGAAACGCTGGAGAACAGCCGCCTGGGCCGGGACCTTACCCTGGAGTCCCGCGTGAGGTCTCCACCTAGGCGTACTTCTAATGTCCGAGCTTTGCTCTCTGCCTCCCGCGCCTTCTCTTCAGCTGAAACCCAGAAGAGAACATGGTAAGAAATGCAAAGGTTCAAAACTCTTGGTCATCCCTCCTGGATCCACAGTACTGGACACGAAGTGTGTACACCACCAAGGAAAAAAAGAGTAGGGGGAGCTATGGCTGGTGAGCAATGTGAGGGCAGCCTCTGTGCCTGGACGGCAGTCAGTCACAGAAGGAAAATCTGGCATTCAAACCTATCACGGAGGCCCCAAGGAAACTTTACAAATGAACCAGAACAGGTTTAAAAAAAAAAAAAAAACACCTAAGGCAACCAGTTGAACACTCAGCTTGAGCTGGAAGCTAAAGAAGTCTTCAGCCAATCACTCTCCAACAAGCAGCCGAGAAACCCTGAGAAACCCTGAACAGCGAGAGAGCCCCTGAGATGTTTGCCCTGAAGTCAGGAAAAGCAATTTCACAAGTATTTGCACCAGAGAACTCAGTGGGATTCTTCAATTGGGATAAGCCAAAGAGCTGACACTTTTAGGCCCTATAAATGGCAGAAGAAGAGAAAGTGGAGTGTAGAAAGAAGAAATGCTGAGGGAGTTGGCATGTAGTGAAAGGGGCTGCAAAGGAACTGAACTATGCTTCAGGAGACCAGCCTTGTCCCTGAGTTGTGGACTCAGCCTTTTCCTGGAACCCCACTTTGCCCACAAGCAGCATACCCCAGATGCACACCCCCCCAACTCCTGCACCCAGAGTGGCATTACCAATCCTTGCTACGTGCTCTGCTTTCTTCACCTCCTGCTCCGCACGGGTCTTGAAACGGCTTGACGTGTACTTGTACATCCTGATCAGTAGAAAAAGCAAGCTGATGGCCCACGCAGCAGTGGGGCAGGTGGCACACCCAAGCACAGGAAGCACCCTGCCTTCCTGCCTCCTCCCAAGCTGTGCTGTCCTGGCCCCTCATGATGAGACAAATCCAAGCTCAATTCAGCAAAAAGGTGCAGTTCCTTATTCCACTTGCCCTTAGCCTCCTGCTGTCTTTGATAAGCAACCTCACCATTCACCAGGGTTGTCATTCATCCCACAGCAGAAACAAACCTCAGGAGTAAGCCAAGCCCACTGCTTTCCTATATAGTGTCTAAAGGCCCCTTGGCCCTAAAGCCAAGAGACTCAGACAGCTCACTGAGCCAGGCAGGGCACCCTCCCTGTCACAGAGGCACACATACTCAATGAGCTTAGCCAGCCACCTCCACAGCTGATCTGTCCCTCCTCTAGGACCCAGAACTGACCCTGTGACCAATCACAGGCAACTTAAAGTCCCAAACGTAGTCAGCACTGCCAGAGCCTCTTATACAGCATCCCTCTAACAATGCCCCAGAGAAACGCGGCCACATCCTCGACCCATGGGAGACAGCAGGCCAAGGGGCACTGGCCCCTACCTGGGCTTGTACAGGCAGCAGGAGAGCCTCTTGGTCTGCACCTTGTGCCCATGGATGAAGATCCTCATCCAGGGATCAATATAGAGCACAGCGGCATAGGCACGGAACGAGCGCCGCTCTGGCTTCCTGGAGAGGGCAAAAACAGAGAAGTGCTGTCACCTGCTCCACAACAGGCCTGACCAAGGGCACAACATCCTCTCTGCAGGCTCTCCACCTTTCCATGTTAGGTACTGACTTCTGCTGCTGCCCTGAACTGGTGCTCCCTTAGTGTGAGCACCACATCCCGCCCCTCTCACGTCCTCAGCACAGGCACCCCACAGGCAACTGAGCTGGCCCTACATACTACCCTACCACAGAACACTGGGCAATGAATGTGCTCTCCCCTCTTTCCCTGAAGCCATCTCCTGAGAGCACAAACGCCAGTTCCAGGGCCTCCCTCCCTTCCCAGCCACACTCACGTGCCCTCTGGGGACGTCTCTGCCATCTGGATATCTCTTGGATTTGAGATTATGTCTAGTTCTGGCTCTCCATTATCCATGAGTTTGAGATTGAAGATGATCACCAATGTTCCTGAGAAACAGAAATCTTTTGTCCTGCCAGATCCCCCGGCCCACCCCCACACTACTTGTGATTCTGGAGCTCCCAGATTCTAGGGGCTACAGGCTCAAAGCCTACTTACCGCTGTCCCCAGGAATCTTCATAAACTGGGTCATCACTTCCTCCTCAGTGCGGAATGGAGAGTACTTATAGATGAGTTCTGTCTCAATGGCAAATTTCTCTACATTGTCTGTGACAGGTTCCCGGGTCCGAGCATTCCAGGTGGGCAGTGGGACTATCACCTGTGGAGTAAACATGAGCAGGCACTTTAAGGGAAGCCCCAGAACAGCCTTCCTCCCAAATGTGCATCTCTCTTGTCCCTCCCCACAGCAGCTCCACACTGCCCTGTAGGTGAGGCCCAAGCTCCACAGCCTGGCACCAGAGGCTCTGTGAGCTTCAGGGCTTCTGCCTCTTCCCAAGACTCAGCCACACAAGACTACTTCCTTCAGGAGATGTTGGTTTATGTGCTTAGGGTCTCTGCATGAGAAGTTCCCTGCTTGGGACGTCCCTGGTCATTTTCTTAATTTGGTAAAAATTCTACTCTTACCACTAGGGAAAATATATTTGCAATTATCTAGTGAATCAGTAAATACACATAACATAACCTAAAACTCAGCAATTCCACTCCTAGGTACATACCCTAGGAGAAACTTTTGTACATATGTACCAGTAAACATGTACAAAAATAACCCAGGCCTGGTGCAGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGATGGACTGCCTGAGCTCAGGAGTTTGAGACCAGTCTGGGCAACATGGTGAATCCCGGTCTCCACTAAAATACAAAAAATTAGCCGGGCGTGGCAGCGTGCGTCTGTAGCCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAATAAATAAATAAATAAAAATAACCCAAATATCCATTCTAGAGTGGCCAAATTAAACTGTACAATGGAACACTATATAGTGATACAAATGAACTAACCACTACTAGCATCAACATGGATGAACAACATAAACACAGTGTTATATGAAATAGGATACAAAAAATACCTACAGTAAGAGTCCATTTCTAAAAAATTCACAAATAGGCAAAACTAAACTATTATTTAAAAATGCATACAAGGGTGACAAACTATAGTGAAAAAGAAGGAAATCATTATCACAAAAGTTACCTGAAGGCAGTTCCTTCGGGGGCACAAGAAGAAATATGACTGATGAGGGCACACAGGACACTTCTAACATCAGTCTGTGATGGTGGCAACACAGGTGTTGCCTTTAAAATTGTCCTCTGAACTGCATAAATATTTCAATACACTCTTCCATTTATGTGAAATTTAATTTAAATAATGTCTAAGTGATGTTTTAAAAAAATCCTACTCTTTCTTCAAAAACCCAACCTCATATGCCACTTCCCCAGAGGCTCCTCCC
Task1_train_28704
Given this context: Chromosome 22, gene MORC2 (MORC family CW-type zinc finger 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
CAAAAAAGGGCTGAGAGCTAGGATTAAGACTTCCCTCCTGCAGGAGGCATTTGACAAGCATTTGGCATTAAAACAAAGCAGTCTTGGTGACAGAATAGCAACCTGTCAATAATCAGTCCAAAAGCTACGTCAGTTTAAAAGATCCAAGGACAGGCCTGGCACTCACCGCTGCTTGGCCTCCTTGATCCTCTTCTTGACATCGGCTTCTCTGCGCAGAGTGATGGCTCTGTTCTGGACCTGTCGCAACATCACCTGCACACATTGACATCAGGTGAGGGGAGGTGGCACTCTAGGCCACAGCAGGGAATATTGAAACATTACATCTAAGACATCTCAATTTATCTCAAAGATGTAAAACCACACCTGGAAATTTACTTCTTTCTACAGAAAACAGCCCTCACTGGGGACAAACTCAAAAGCTGTGTTTTACTTGACCAGGCTCATGGGACATGGGCTCCTAGTGCCAGAAACGCTGGAGAACAGCCGCCTGGGCCGGGACCTTACCCTGGAGTCCCGCGTGAGGTCTCCACCTAGGCGTACTTCTAATGTCCGAGCTTTGCTCTCTGCCTCCCGCGCCTTCTCTTCAGCTGAAACCCAGAAGAGAACATGGTAAGAAATGCAAAGGTTCAAAACTCTTGGTCATCCCTCCTGGATCCACAGTACTGGACACGAAGTGTGTACACCACCAAGGAAAAAAAGAGTAGGGGGAGCTATGGCTGGTGAGCAATGTGAGGGCAGCCTCTGTGCCTGGACGGCAGTCAGTCACAGAAGGAAAATCTGGCATTCAAACCTATCACGGAGGCCCCAAGGAAACTTTACAAATGAACCAGAACAGGTTTAAAAAAAAAAAAAAAACACCTAAGGCAACCAGTTGAACACTCAGCTTGAGCTGGAAGCTAAAGAAGTCTTCAGCCAATCACTCTCCAACAAGCAGCCGAGAAACCCTGAGAAACCCTGAACAGCGAGAGAGCCCCTGAGATGTTTGCCCTGAAGTCAGGAAAAGCAATTTCACAAGTATTTGCACCAGAGAACTCAGTGGGATTCTTCAATTGGGATAAGCCAAAGAGCTGACACTTTTAGGCCCTATAAATGGCAGAAGAAGAGAAAGTGGAGTGTAGAAAGAAGAAATGCTGAGGGAGTTGGCATGTAGTGAAAGGGGCTGCAAAGGAACTGAACTATGCTTCAGGAGACCAGCCTTGTCCCTGAGTTGTGGACTCAGCCTTTTCCTGGAACCCCACTTTGCCCACAAGCAGCATACCCCAGATGCACACCCCCCCAACTCCTGCACCCAGAGTGGCATTACCAATCCTTGCTACGTGCTCTGCTTTCTTCACCTCCTGCTCCGCACGGGTCTTGAAACGGCTTGACGTGTACTTGTACATCCTGATCAGTAGAAAAAGCAAGCTGATGGCCCACGCAGCAGTGGGGCAGGTGGCACACCCAAGCACAGGAAGCACCCTGCCTTCCTGCCTCCTCCCAAGCTGTGCTGTCCTGGCCCCTCATGATGAGACAAATCCAAGCTCAATTCAGCAAAAAGGTGCAGTTCCTTATTCCACTTGCCCTTAGCCTCCTGCTGTCTTTGATAAGCAACCTCACCATTCACCAGGGTTGTCATTCATCCCACAGCAGAAACAAACCTCAGGAGTAAGCCAAGCCCACTGCTTTCCTATATAGTGTCTAAAGGCCCCTTGGCCCTAAAGCCAAGAGACTCAGACAGCTCACTGAGCCAGGCAGGGCACCCTCCCTGTCACAGAGGCACACATACTCAATGAGCTTAGCCAGCCACCTCCACAGCTGATCTGTCCCTCCTCTAGGACCCAGAACTGACCCTGTGACCAATCACAGGCAACTTAAAGTCCCAAACGTAGTCAGCACTGCCAGAGCCTCTTATACAGCATCCCTCTAACAATGCCCCAGAGAAACGCGGCCACATCCTCGACCCATGGGAGACAGCAGGCCAAGGGGCACTGGCCCCTACCTGGGCTTGTACAGGCAGCAGGAGAGCCTCTTGGTCTGCACCTTGTGCCCATGGATGAAGATCCTCATCCGGGGATCAATATAGAGCACAGCGGCATAGGCACGGAACGAGCGCCGCTCTGGCTTCCTGGAGAGGGCAAAAACAGAGAAGTGCTGTCACCTGCTCCACAACAGGCCTGACCAAGGGCACAACATCCTCTCTGCAGGCTCTCCACCTTTCCATGTTAGGTACTGACTTCTGCTGCTGCCCTGAACTGGTGCTCCCTTAGTGTGAGCACCACATCCCGCCCCTCTCACGTCCTCAGCACAGGCACCCCACAGGCAACTGAGCTGGCCCTACATACTACCCTACCACAGAACACTGGGCAATGAATGTGCTCTCCCCTCTTTCCCTGAAGCCATCTCCTGAGAGCACAAACGCCAGTTCCAGGGCCTCCCTCCCTTCCCAGCCACACTCACGTGCCCTCTGGGGACGTCTCTGCCATCTGGATATCTCTTGGATTTGAGATTATGTCTAGTTCTGGCTCTCCATTATCCATGAGTTTGAGATTGAAGATGATCACCAATGTTCCTGAGAAACAGAAATCTTTTGTCCTGCCAGATCCCCCGGCCCACCCCCACACTACTTGTGATTCTGGAGCTCCCAGATTCTAGGGGCTACAGGCTCAAAGCCTACTTACCGCTGTCCCCAGGAATCTTCATAAACTGGGTCATCACTTCCTCCTCAGTGCGGAATGGAGAGTACTTATAGATGAGTTCTGTCTCAATGGCAAATTTCTCTACATTGTCTGTGACAGGTTCCCGGGTCCGAGCATTCCAGGTGGGCAGTGGGACTATCACCTGTGGAGTAAACATGAGCAGGCACTTTAAGGGAAGCCCCAGAACAGCCTTCCTCCCAAATGTGCATCTCTCTTGTCCCTCCCCACAGCAGCTCCACACTGCCCTGTAGGTGAGGCCCAAGCTCCACAGCCTGGCACCAGAGGCTCTGTGAGCTTCAGGGCTTCTGCCTCTTCCCAAGACTCAGCCACACAAGACTACTTCCTTCAGGAGATGTTGGTTTATGTGCTTAGGGTCTCTGCATGAGAAGTTCCCTGCTTGGGACGTCCCTGGTCATTTTCTTAATTTGGTAAAAATTCTACTCTTACCACTAGGGAAAATATATTTGCAATTATCTAGTGAATCAGTAAATACACATAACATAACCTAAAACTCAGCAATTCCACTCCTAGGTACATACCCTAGGAGAAACTTTTGTACATATGTACCAGTAAACATGTACAAAAATAACCCAGGCCTGGTGCAGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGATGGACTGCCTGAGCTCAGGAGTTTGAGACCAGTCTGGGCAACATGGTGAATCCCGGTCTCCACTAAAATACAAAAAATTAGCCGGGCGTGGCAGCGTGCGTCTGTAGCCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAATAAATAAATAAATAAAAATAACCCAAATATCCATTCTAGAGTGGCCAAATTAAACTGTACAATGGAACACTATATAGTGATACAAATGAACTAACCACTACTAGCATCAACATGGATGAACAACATAAACACAGTGTTATATGAAATAGGATACAAAAAATACCTACAGTAAGAGTCCATTTCTAAAAAATTCACAAATAGGCAAAACTAAACTATTATTTAAAAATGCATACAAGGGTGACAAACTATAGTGAAAAAGAAGGAAATCATTATCACAAAAGTTACCTGAAGGCAGTTCCTTCGGGGGCACAAGAAGAAATATGACTGATGAGGGCACACAGGACACTTCTAACATCAGTCTGTGATGGTGGCAACACAGGTGTTGCCTTTAAAATTGTCCTCTGAACTGCATAAATATTTCAATACACTCTTCCATTTATGTGAAATTTAATTTAAATAATGTCTAAGTGATGTTTTAAAAAAATCCTACTCTTTCTTCAAAAACCCAACCTCATATGCCACTTCCCCAGAGGCTCCTCCC
CAAAAAAGGGCTGAGAGCTAGGATTAAGACTTCCCTCCTGCAGGAGGCATTTGACAAGCATTTGGCATTAAAACAAAGCAGTCTTGGTGACAGAATAGCAACCTGTCAATAATCAGTCCAAAAGCTACGTCAGTTTAAAAGATCCAAGGACAGGCCTGGCACTCACCGCTGCTTGGCCTCCTTGATCCTCTTCTTGACATCGGCTTCTCTGCGCAGAGTGATGGCTCTGTTCTGGACCTGTCGCAACATCACCTGCACACATTGACATCAGGTGAGGGGAGGTGGCACTCTAGGCCACAGCAGGGAATATTGAAACATTACATCTAAGACATCTCAATTTATCTCAAAGATGTAAAACCACACCTGGAAATTTACTTCTTTCTACAGAAAACAGCCCTCACTGGGGACAAACTCAAAAGCTGTGTTTTACTTGACCAGGCTCATGGGACATGGGCTCCTAGTGCCAGAAACGCTGGAGAACAGCCGCCTGGGCCGGGACCTTACCCTGGAGTCCCGCGTGAGGTCTCCACCTAGGCGTACTTCTAATGTCCGAGCTTTGCTCTCTGCCTCCCGCGCCTTCTCTTCAGCTGAAACCCAGAAGAGAACATGGTAAGAAATGCAAAGGTTCAAAACTCTTGGTCATCCCTCCTGGATCCACAGTACTGGACACGAAGTGTGTACACCACCAAGGAAAAAAAGAGTAGGGGGAGCTATGGCTGGTGAGCAATGTGAGGGCAGCCTCTGTGCCTGGACGGCAGTCAGTCACAGAAGGAAAATCTGGCATTCAAACCTATCACGGAGGCCCCAAGGAAACTTTACAAATGAACCAGAACAGGTTTAAAAAAAAAAAAAAAACACCTAAGGCAACCAGTTGAACACTCAGCTTGAGCTGGAAGCTAAAGAAGTCTTCAGCCAATCACTCTCCAACAAGCAGCCGAGAAACCCTGAGAAACCCTGAACAGCGAGAGAGCCCCTGAGATGTTTGCCCTGAAGTCAGGAAAAGCAATTTCACAAGTATTTGCACCAGAGAACTCAGTGGGATTCTTCAATTGGGATAAGCCAAAGAGCTGACACTTTTAGGCCCTATAAATGGCAGAAGAAGAGAAAGTGGAGTGTAGAAAGAAGAAATGCTGAGGGAGTTGGCATGTAGTGAAAGGGGCTGCAAAGGAACTGAACTATGCTTCAGGAGACCAGCCTTGTCCCTGAGTTGTGGACTCAGCCTTTTCCTGGAACCCCACTTTGCCCACAAGCAGCATACCCCAGATGCACACCCCCCCAACTCCTGCACCCAGAGTGGCATTACCAATCCTTGCTACGTGCTCTGCTTTCTTCACCTCCTGCTCCGCACGGGTCTTGAAACGGCTTGACGTGTACTTGTACATCCTGATCAGTAGAAAAAGCAAGCTGATGGCCCACGCAGCAGTGGGGCAGGTGGCACACCCAAGCACAGGAAGCACCCTGCCTTCCTGCCTCCTCCCAAGCTGTGCTGTCCTGGCCCCTCATGATGAGACAAATCCAAGCTCAATTCAGCAAAAAGGTGCAGTTCCTTATTCCACTTGCCCTTAGCCTCCTGCTGTCTTTGATAAGCAACCTCACCATTCACCAGGGTTGTCATTCATCCCACAGCAGAAACAAACCTCAGGAGTAAGCCAAGCCCACTGCTTTCCTATATAGTGTCTAAAGGCCCCTTGGCCCTAAAGCCAAGAGACTCAGACAGCTCACTGAGCCAGGCAGGGCACCCTCCCTGTCACAGAGGCACACATACTCAATGAGCTTAGCCAGCCACCTCCACAGCTGATCTGTCCCTCCTCTAGGACCCAGAACTGACCCTGTGACCAATCACAGGCAACTTAAAGTCCCAAACGTAGTCAGCACTGCCAGAGCCTCTTATACAGCATCCCTCTAACAATGCCCCAGAGAAACGCGGCCACATCCTCGACCCATGGGAGACAGCAGGCCAAGGGGCACTGGCCCCTACCTGGGCTTGTACAGGCAGCAGGAGAGCCTCTTGGTCTGCACCTTGTGCCCATGGATGAAGATCCTCATCCAGGGATCAATATAGAGCACAGCGGCATAGGCACGGAACGAGCGCCGCTCTGGCTTCCTGGAGAGGGCAAAAACAGAGAAGTGCTGTCACCTGCTCCACAACAGGCCTGACCAAGGGCACAACATCCTCTCTGCAGGCTCTCCACCTTTCCATGTTAGGTACTGACTTCTGCTGCTGCCCTGAACTGGTGCTCCCTTAGTGTGAGCACCACATCCCGCCCCTCTCACGTCCTCAGCACAGGCACCCCACAGGCAACTGAGCTGGCCCTACATACTACCCTACCACAGAACACTGGGCAATGAATGTGCTCTCCCCTCTTTCCCTGAAGCCATCTCCTGAGAGCACAAACGCCAGTTCCAGGGCCTCCCTCCCTTCCCAGCCACACTCACGTGCCCTCTGGGGACGTCTCTGCCATCTGGATATCTCTTGGATTTGAGATTATGTCTAGTTCTGGCTCTCCATTATCCATGAGTTTGAGATTGAAGATGATCACCAATGTTCCTGAGAAACAGAAATCTTTTGTCCTGCCAGATCCCCCGGCCCACCCCCACACTACTTGTGATTCTGGAGCTCCCAGATTCTAGGGGCTACAGGCTCAAAGCCTACTTACCGCTGTCCCCAGGAATCTTCATAAACTGGGTCATCACTTCCTCCTCAGTGCGGAATGGAGAGTACTTATAGATGAGTTCTGTCTCAATGGCAAATTTCTCTACATTGTCTGTGACAGGTTCCCGGGTCCGAGCATTCCAGGTGGGCAGTGGGACTATCACCTGTGGAGTAAACATGAGCAGGCACTTTAAGGGAAGCCCCAGAACAGCCTTCCTCCCAAATGTGCATCTCTCTTGTCCCTCCCCACAGCAGCTCCACACTGCCCTGTAGGTGAGGCCCAAGCTCCACAGCCTGGCACCAGAGGCTCTGTGAGCTTCAGGGCTTCTGCCTCTTCCCAAGACTCAGCCACACAAGACTACTTCCTTCAGGAGATGTTGGTTTATGTGCTTAGGGTCTCTGCATGAGAAGTTCCCTGCTTGGGACGTCCCTGGTCATTTTCTTAATTTGGTAAAAATTCTACTCTTACCACTAGGGAAAATATATTTGCAATTATCTAGTGAATCAGTAAATACACATAACATAACCTAAAACTCAGCAATTCCACTCCTAGGTACATACCCTAGGAGAAACTTTTGTACATATGTACCAGTAAACATGTACAAAAATAACCCAGGCCTGGTGCAGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGATGGACTGCCTGAGCTCAGGAGTTTGAGACCAGTCTGGGCAACATGGTGAATCCCGGTCTCCACTAAAATACAAAAAATTAGCCGGGCGTGGCAGCGTGCGTCTGTAGCCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAATAAATAAATAAATAAAAATAACCCAAATATCCATTCTAGAGTGGCCAAATTAAACTGTACAATGGAACACTATATAGTGATACAAATGAACTAACCACTACTAGCATCAACATGGATGAACAACATAAACACAGTGTTATATGAAATAGGATACAAAAAATACCTACAGTAAGAGTCCATTTCTAAAAAATTCACAAATAGGCAAAACTAAACTATTATTTAAAAATGCATACAAGGGTGACAAACTATAGTGAAAAAGAAGGAAATCATTATCACAAAAGTTACCTGAAGGCAGTTCCTTCGGGGGCACAAGAAGAAATATGACTGATGAGGGCACACAGGACACTTCTAACATCAGTCTGTGATGGTGGCAACACAGGTGTTGCCTTTAAAATTGTCCTCTGAACTGCATAAATATTTCAATACACTCTTCCATTTATGTGAAATTTAATTTAAATAATGTCTAAGTGATGTTTTAAAAAAATCCTACTCTTTCTTCAAAAACCCAACCTCATATGCCACTTCCCCAGAGGCTCCTCCC
Task1_train_28705
Here is a mutation in MORC2 (MORC family CW-type zinc finger 2) on Chromosome 22. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Charcot-Marie-Tooth disease axonal type 2Z
CAAAAAAGGGCTGAGAGCTAGGATTAAGACTTCCCTCCTGCAGGAGGCATTTGACAAGCATTTGGCATTAAAACAAAGCAGTCTTGGTGACAGAATAGCAACCTGTCAATAATCAGTCCAAAAGCTACGTCAGTTTAAAAGATCCAAGGACAGGCCTGGCACTCACCGCTGCTTGGCCTCCTTGATCCTCTTCTTGACATCGGCTTCTCTGCGCAGAGTGATGGCTCTGTTCTGGACCTGTCGCAACATCACCTGCACACATTGACATCAGGTGAGGGGAGGTGGCACTCTAGGCCACAGCAGGGAATATTGAAACATTACATCTAAGACATCTCAATTTATCTCAAAGATGTAAAACCACACCTGGAAATTTACTTCTTTCTACAGAAAACAGCCCTCACTGGGGACAAACTCAAAAGCTGTGTTTTACTTGACCAGGCTCATGGGACATGGGCTCCTAGTGCCAGAAACGCTGGAGAACAGCCGCCTGGGCCGGGACCTTACCCTGGAGTCCCGCGTGAGGTCTCCACCTAGGCGTACTTCTAATGTCCGAGCTTTGCTCTCTGCCTCCCGCGCCTTCTCTTCAGCTGAAACCCAGAAGAGAACATGGTAAGAAATGCAAAGGTTCAAAACTCTTGGTCATCCCTCCTGGATCCACAGTACTGGACACGAAGTGTGTACACCACCAAGGAAAAAAAGAGTAGGGGGAGCTATGGCTGGTGAGCAATGTGAGGGCAGCCTCTGTGCCTGGACGGCAGTCAGTCACAGAAGGAAAATCTGGCATTCAAACCTATCACGGAGGCCCCAAGGAAACTTTACAAATGAACCAGAACAGGTTTAAAAAAAAAAAAAAAACACCTAAGGCAACCAGTTGAACACTCAGCTTGAGCTGGAAGCTAAAGAAGTCTTCAGCCAATCACTCTCCAACAAGCAGCCGAGAAACCCTGAGAAACCCTGAACAGCGAGAGAGCCCCTGAGATGTTTGCCCTGAAGTCAGGAAAAGCAATTTCACAAGTATTTGCACCAGAGAACTCAGTGGGATTCTTCAATTGGGATAAGCCAAAGAGCTGACACTTTTAGGCCCTATAAATGGCAGAAGAAGAGAAAGTGGAGTGTAGAAAGAAGAAATGCTGAGGGAGTTGGCATGTAGTGAAAGGGGCTGCAAAGGAACTGAACTATGCTTCAGGAGACCAGCCTTGTCCCTGAGTTGTGGACTCAGCCTTTTCCTGGAACCCCACTTTGCCCACAAGCAGCATACCCCAGATGCACACCCCCCCAACTCCTGCACCCAGAGTGGCATTACCAATCCTTGCTACGTGCTCTGCTTTCTTCACCTCCTGCTCCGCACGGGTCTTGAAACGGCTTGACGTGTACTTGTACATCCTGATCAGTAGAAAAAGCAAGCTGATGGCCCACGCAGCAGTGGGGCAGGTGGCACACCCAAGCACAGGAAGCACCCTGCCTTCCTGCCTCCTCCCAAGCTGTGCTGTCCTGGCCCCTCATGATGAGACAAATCCAAGCTCAATTCAGCAAAAAGGTGCAGTTCCTTATTCCACTTGCCCTTAGCCTCCTGCTGTCTTTGATAAGCAACCTCACCATTCACCAGGGTTGTCATTCATCCCACAGCAGAAACAAACCTCAGGAGTAAGCCAAGCCCACTGCTTTCCTATATAGTGTCTAAAGGCCCCTTGGCCCTAAAGCCAAGAGACTCAGACAGCTCACTGAGCCAGGCAGGGCACCCTCCCTGTCACAGAGGCACACATACTCAATGAGCTTAGCCAGCCACCTCCACAGCTGATCTGTCCCTCCTCTAGGACCCAGAACTGACCCTGTGACCAATCACAGGCAACTTAAAGTCCCAAACGTAGTCAGCACTGCCAGAGCCTCTTATACAGCATCCCTCTAACAATGCCCCAGAGAAACGCGGCCACATCCTCGACCCATGGGAGACAGCAGGCCAAGGGGCACTGGCCCCTACCTGGGCTTGTACAGGCAGCAGGAGAGCCTCTTGGTCTGCACCTTGTGCCCATGGATGAAGATCCTCATCCGGGGATCAATATAGAGCACAGCGGCATAGGCACGGAACGAGCGCCGCTCTGGCTTCCTGGAGAGGGCAAAAACAGAGAAGTGCTGTCACCTGCTCCACAACAGGCCTGACCAAGGGCACAACATCCTCTCTGCAGGCTCTCCACCTTTCCATGTTAGGTACTGACTTCTGCTGCTGCCCTGAACTGGTGCTCCCTTAGTGTGAGCACCACATCCCGCCCCTCTCACGTCCTCAGCACAGGCACCCCACAGGCAACTGAGCTGGCCCTACATACTACCCTACCACAGAACACTGGGCAATGAATGTGCTCTCCCCTCTTTCCCTGAAGCCATCTCCTGAGAGCACAAACGCCAGTTCCAGGGCCTCCCTCCCTTCCCAGCCACACTCACGTGCCCTCTGGGGACGTCTCTGCCATCTGGATATCTCTTGGATTTGAGATTATGTCTAGTTCTGGCTCTCCATTATCCATGAGTTTGAGATTGAAGATGATCACCAATGTTCCTGAGAAACAGAAATCTTTTGTCCTGCCAGATCCCCCGGCCCACCCCCACACTACTTGTGATTCTGGAGCTCCCAGATTCTAGGGGCTACAGGCTCAAAGCCTACTTACCGCTGTCCCCAGGAATCTTCATAAACTGGGTCATCACTTCCTCCTCAGTGCGGAATGGAGAGTACTTATAGATGAGTTCTGTCTCAATGGCAAATTTCTCTACATTGTCTGTGACAGGTTCCCGGGTCCGAGCATTCCAGGTGGGCAGTGGGACTATCACCTGTGGAGTAAACATGAGCAGGCACTTTAAGGGAAGCCCCAGAACAGCCTTCCTCCCAAATGTGCATCTCTCTTGTCCCTCCCCACAGCAGCTCCACACTGCCCTGTAGGTGAGGCCCAAGCTCCACAGCCTGGCACCAGAGGCTCTGTGAGCTTCAGGGCTTCTGCCTCTTCCCAAGACTCAGCCACACAAGACTACTTCCTTCAGGAGATGTTGGTTTATGTGCTTAGGGTCTCTGCATGAGAAGTTCCCTGCTTGGGACGTCCCTGGTCATTTTCTTAATTTGGTAAAAATTCTACTCTTACCACTAGGGAAAATATATTTGCAATTATCTAGTGAATCAGTAAATACACATAACATAACCTAAAACTCAGCAATTCCACTCCTAGGTACATACCCTAGGAGAAACTTTTGTACATATGTACCAGTAAACATGTACAAAAATAACCCAGGCCTGGTGCAGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGATGGACTGCCTGAGCTCAGGAGTTTGAGACCAGTCTGGGCAACATGGTGAATCCCGGTCTCCACTAAAATACAAAAAATTAGCCGGGCGTGGCAGCGTGCGTCTGTAGCCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAATAAATAAATAAATAAAAATAACCCAAATATCCATTCTAGAGTGGCCAAATTAAACTGTACAATGGAACACTATATAGTGATACAAATGAACTAACCACTACTAGCATCAACATGGATGAACAACATAAACACAGTGTTATATGAAATAGGATACAAAAAATACCTACAGTAAGAGTCCATTTCTAAAAAATTCACAAATAGGCAAAACTAAACTATTATTTAAAAATGCATACAAGGGTGACAAACTATAGTGAAAAAGAAGGAAATCATTATCACAAAAGTTACCTGAAGGCAGTTCCTTCGGGGGCACAAGAAGAAATATGACTGATGAGGGCACACAGGACACTTCTAACATCAGTCTGTGATGGTGGCAACACAGGTGTTGCCTTTAAAATTGTCCTCTGAACTGCATAAATATTTCAATACACTCTTCCATTTATGTGAAATTTAATTTAAATAATGTCTAAGTGATGTTTTAAAAAAATCCTACTCTTTCTTCAAAAACCCAACCTCATATGCCACTTCCCCAGAGGCTCCTCCC
CAAAAAAGGGCTGAGAGCTAGGATTAAGACTTCCCTCCTGCAGGAGGCATTTGACAAGCATTTGGCATTAAAACAAAGCAGTCTTGGTGACAGAATAGCAACCTGTCAATAATCAGTCCAAAAGCTACGTCAGTTTAAAAGATCCAAGGACAGGCCTGGCACTCACCGCTGCTTGGCCTCCTTGATCCTCTTCTTGACATCGGCTTCTCTGCGCAGAGTGATGGCTCTGTTCTGGACCTGTCGCAACATCACCTGCACACATTGACATCAGGTGAGGGGAGGTGGCACTCTAGGCCACAGCAGGGAATATTGAAACATTACATCTAAGACATCTCAATTTATCTCAAAGATGTAAAACCACACCTGGAAATTTACTTCTTTCTACAGAAAACAGCCCTCACTGGGGACAAACTCAAAAGCTGTGTTTTACTTGACCAGGCTCATGGGACATGGGCTCCTAGTGCCAGAAACGCTGGAGAACAGCCGCCTGGGCCGGGACCTTACCCTGGAGTCCCGCGTGAGGTCTCCACCTAGGCGTACTTCTAATGTCCGAGCTTTGCTCTCTGCCTCCCGCGCCTTCTCTTCAGCTGAAACCCAGAAGAGAACATGGTAAGAAATGCAAAGGTTCAAAACTCTTGGTCATCCCTCCTGGATCCACAGTACTGGACACGAAGTGTGTACACCACCAAGGAAAAAAAGAGTAGGGGGAGCTATGGCTGGTGAGCAATGTGAGGGCAGCCTCTGTGCCTGGACGGCAGTCAGTCACAGAAGGAAAATCTGGCATTCAAACCTATCACGGAGGCCCCAAGGAAACTTTACAAATGAACCAGAACAGGTTTAAAAAAAAAAAAAAAACACCTAAGGCAACCAGTTGAACACTCAGCTTGAGCTGGAAGCTAAAGAAGTCTTCAGCCAATCACTCTCCAACAAGCAGCCGAGAAACCCTGAGAAACCCTGAACAGCGAGAGAGCCCCTGAGATGTTTGCCCTGAAGTCAGGAAAAGCAATTTCACAAGTATTTGCACCAGAGAACTCAGTGGGATTCTTCAATTGGGATAAGCCAAAGAGCTGACACTTTTAGGCCCTATAAATGGCAGAAGAAGAGAAAGTGGAGTGTAGAAAGAAGAAATGCTGAGGGAGTTGGCATGTAGTGAAAGGGGCTGCAAAGGAACTGAACTATGCTTCAGGAGACCAGCCTTGTCCCTGAGTTGTGGACTCAGCCTTTTCCTGGAACCCCACTTTGCCCACAAGCAGCATACCCCAGATGCACACCCCCCCAACTCCTGCACCCAGAGTGGCATTACCAATCCTTGCTACGTGCTCTGCTTTCTTCACCTCCTGCTCCGCACGGGTCTTGAAACGGCTTGACGTGTACTTGTACATCCTGATCAGTAGAAAAAGCAAGCTGATGGCCCACGCAGCAGTGGGGCAGGTGGCACACCCAAGCACAGGAAGCACCCTGCCTTCCTGCCTCCTCCCAAGCTGTGCTGTCCTGGCCCCTCATGATGAGACAAATCCAAGCTCAATTCAGCAAAAAGGTGCAGTTCCTTATTCCACTTGCCCTTAGCCTCCTGCTGTCTTTGATAAGCAACCTCACCATTCACCAGGGTTGTCATTCATCCCACAGCAGAAACAAACCTCAGGAGTAAGCCAAGCCCACTGCTTTCCTATATAGTGTCTAAAGGCCCCTTGGCCCTAAAGCCAAGAGACTCAGACAGCTCACTGAGCCAGGCAGGGCACCCTCCCTGTCACAGAGGCACACATACTCAATGAGCTTAGCCAGCCACCTCCACAGCTGATCTGTCCCTCCTCTAGGACCCAGAACTGACCCTGTGACCAATCACAGGCAACTTAAAGTCCCAAACGTAGTCAGCACTGCCAGAGCCTCTTATACAGCATCCCTCTAACAATGCCCCAGAGAAACGCGGCCACATCCTCGACCCATGGGAGACAGCAGGCCAAGGGGCACTGGCCCCTACCTGGGCTTGTACAGGCAGCAGGAGAGCCTCTTGGTCTGCACCTTGTGCCCATGGATGAAGATCCTCATCCAGGGATCAATATAGAGCACAGCGGCATAGGCACGGAACGAGCGCCGCTCTGGCTTCCTGGAGAGGGCAAAAACAGAGAAGTGCTGTCACCTGCTCCACAACAGGCCTGACCAAGGGCACAACATCCTCTCTGCAGGCTCTCCACCTTTCCATGTTAGGTACTGACTTCTGCTGCTGCCCTGAACTGGTGCTCCCTTAGTGTGAGCACCACATCCCGCCCCTCTCACGTCCTCAGCACAGGCACCCCACAGGCAACTGAGCTGGCCCTACATACTACCCTACCACAGAACACTGGGCAATGAATGTGCTCTCCCCTCTTTCCCTGAAGCCATCTCCTGAGAGCACAAACGCCAGTTCCAGGGCCTCCCTCCCTTCCCAGCCACACTCACGTGCCCTCTGGGGACGTCTCTGCCATCTGGATATCTCTTGGATTTGAGATTATGTCTAGTTCTGGCTCTCCATTATCCATGAGTTTGAGATTGAAGATGATCACCAATGTTCCTGAGAAACAGAAATCTTTTGTCCTGCCAGATCCCCCGGCCCACCCCCACACTACTTGTGATTCTGGAGCTCCCAGATTCTAGGGGCTACAGGCTCAAAGCCTACTTACCGCTGTCCCCAGGAATCTTCATAAACTGGGTCATCACTTCCTCCTCAGTGCGGAATGGAGAGTACTTATAGATGAGTTCTGTCTCAATGGCAAATTTCTCTACATTGTCTGTGACAGGTTCCCGGGTCCGAGCATTCCAGGTGGGCAGTGGGACTATCACCTGTGGAGTAAACATGAGCAGGCACTTTAAGGGAAGCCCCAGAACAGCCTTCCTCCCAAATGTGCATCTCTCTTGTCCCTCCCCACAGCAGCTCCACACTGCCCTGTAGGTGAGGCCCAAGCTCCACAGCCTGGCACCAGAGGCTCTGTGAGCTTCAGGGCTTCTGCCTCTTCCCAAGACTCAGCCACACAAGACTACTTCCTTCAGGAGATGTTGGTTTATGTGCTTAGGGTCTCTGCATGAGAAGTTCCCTGCTTGGGACGTCCCTGGTCATTTTCTTAATTTGGTAAAAATTCTACTCTTACCACTAGGGAAAATATATTTGCAATTATCTAGTGAATCAGTAAATACACATAACATAACCTAAAACTCAGCAATTCCACTCCTAGGTACATACCCTAGGAGAAACTTTTGTACATATGTACCAGTAAACATGTACAAAAATAACCCAGGCCTGGTGCAGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGATGGACTGCCTGAGCTCAGGAGTTTGAGACCAGTCTGGGCAACATGGTGAATCCCGGTCTCCACTAAAATACAAAAAATTAGCCGGGCGTGGCAGCGTGCGTCTGTAGCCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAATAAATAAATAAATAAAAATAACCCAAATATCCATTCTAGAGTGGCCAAATTAAACTGTACAATGGAACACTATATAGTGATACAAATGAACTAACCACTACTAGCATCAACATGGATGAACAACATAAACACAGTGTTATATGAAATAGGATACAAAAAATACCTACAGTAAGAGTCCATTTCTAAAAAATTCACAAATAGGCAAAACTAAACTATTATTTAAAAATGCATACAAGGGTGACAAACTATAGTGAAAAAGAAGGAAATCATTATCACAAAAGTTACCTGAAGGCAGTTCCTTCGGGGGCACAAGAAGAAATATGACTGATGAGGGCACACAGGACACTTCTAACATCAGTCTGTGATGGTGGCAACACAGGTGTTGCCTTTAAAATTGTCCTCTGAACTGCATAAATATTTCAATACACTCTTCCATTTATGTGAAATTTAATTTAAATAATGTCTAAGTGATGTTTTAAAAAAATCCTACTCTTTCTTCAAAAACCCAACCTCATATGCCACTTCCCCAGAGGCTCCTCCC
Task1_train_28706
Here is a mutation in MORC2 (MORC family CW-type zinc finger 2) on Chromosome 22. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Charcot-Marie-Tooth disease axonal type 2Z
CATTTGACAAGCATTTGGCATTAAAACAAAGCAGTCTTGGTGACAGAATAGCAACCTGTCAATAATCAGTCCAAAAGCTACGTCAGTTTAAAAGATCCAAGGACAGGCCTGGCACTCACCGCTGCTTGGCCTCCTTGATCCTCTTCTTGACATCGGCTTCTCTGCGCAGAGTGATGGCTCTGTTCTGGACCTGTCGCAACATCACCTGCACACATTGACATCAGGTGAGGGGAGGTGGCACTCTAGGCCACAGCAGGGAATATTGAAACATTACATCTAAGACATCTCAATTTATCTCAAAGATGTAAAACCACACCTGGAAATTTACTTCTTTCTACAGAAAACAGCCCTCACTGGGGACAAACTCAAAAGCTGTGTTTTACTTGACCAGGCTCATGGGACATGGGCTCCTAGTGCCAGAAACGCTGGAGAACAGCCGCCTGGGCCGGGACCTTACCCTGGAGTCCCGCGTGAGGTCTCCACCTAGGCGTACTTCTAATGTCCGAGCTTTGCTCTCTGCCTCCCGCGCCTTCTCTTCAGCTGAAACCCAGAAGAGAACATGGTAAGAAATGCAAAGGTTCAAAACTCTTGGTCATCCCTCCTGGATCCACAGTACTGGACACGAAGTGTGTACACCACCAAGGAAAAAAAGAGTAGGGGGAGCTATGGCTGGTGAGCAATGTGAGGGCAGCCTCTGTGCCTGGACGGCAGTCAGTCACAGAAGGAAAATCTGGCATTCAAACCTATCACGGAGGCCCCAAGGAAACTTTACAAATGAACCAGAACAGGTTTAAAAAAAAAAAAAAAACACCTAAGGCAACCAGTTGAACACTCAGCTTGAGCTGGAAGCTAAAGAAGTCTTCAGCCAATCACTCTCCAACAAGCAGCCGAGAAACCCTGAGAAACCCTGAACAGCGAGAGAGCCCCTGAGATGTTTGCCCTGAAGTCAGGAAAAGCAATTTCACAAGTATTTGCACCAGAGAACTCAGTGGGATTCTTCAATTGGGATAAGCCAAAGAGCTGACACTTTTAGGCCCTATAAATGGCAGAAGAAGAGAAAGTGGAGTGTAGAAAGAAGAAATGCTGAGGGAGTTGGCATGTAGTGAAAGGGGCTGCAAAGGAACTGAACTATGCTTCAGGAGACCAGCCTTGTCCCTGAGTTGTGGACTCAGCCTTTTCCTGGAACCCCACTTTGCCCACAAGCAGCATACCCCAGATGCACACCCCCCCAACTCCTGCACCCAGAGTGGCATTACCAATCCTTGCTACGTGCTCTGCTTTCTTCACCTCCTGCTCCGCACGGGTCTTGAAACGGCTTGACGTGTACTTGTACATCCTGATCAGTAGAAAAAGCAAGCTGATGGCCCACGCAGCAGTGGGGCAGGTGGCACACCCAAGCACAGGAAGCACCCTGCCTTCCTGCCTCCTCCCAAGCTGTGCTGTCCTGGCCCCTCATGATGAGACAAATCCAAGCTCAATTCAGCAAAAAGGTGCAGTTCCTTATTCCACTTGCCCTTAGCCTCCTGCTGTCTTTGATAAGCAACCTCACCATTCACCAGGGTTGTCATTCATCCCACAGCAGAAACAAACCTCAGGAGTAAGCCAAGCCCACTGCTTTCCTATATAGTGTCTAAAGGCCCCTTGGCCCTAAAGCCAAGAGACTCAGACAGCTCACTGAGCCAGGCAGGGCACCCTCCCTGTCACAGAGGCACACATACTCAATGAGCTTAGCCAGCCACCTCCACAGCTGATCTGTCCCTCCTCTAGGACCCAGAACTGACCCTGTGACCAATCACAGGCAACTTAAAGTCCCAAACGTAGTCAGCACTGCCAGAGCCTCTTATACAGCATCCCTCTAACAATGCCCCAGAGAAACGCGGCCACATCCTCGACCCATGGGAGACAGCAGGCCAAGGGGCACTGGCCCCTACCTGGGCTTGTACAGGCAGCAGGAGAGCCTCTTGGTCTGCACCTTGTGCCCATGGATGAAGATCCTCATCCGGGGATCAATATAGAGCACAGCGGCATAGGCACGGAACGAGCGCCGCTCTGGCTTCCTGGAGAGGGCAAAAACAGAGAAGTGCTGTCACCTGCTCCACAACAGGCCTGACCAAGGGCACAACATCCTCTCTGCAGGCTCTCCACCTTTCCATGTTAGGTACTGACTTCTGCTGCTGCCCTGAACTGGTGCTCCCTTAGTGTGAGCACCACATCCCGCCCCTCTCACGTCCTCAGCACAGGCACCCCACAGGCAACTGAGCTGGCCCTACATACTACCCTACCACAGAACACTGGGCAATGAATGTGCTCTCCCCTCTTTCCCTGAAGCCATCTCCTGAGAGCACAAACGCCAGTTCCAGGGCCTCCCTCCCTTCCCAGCCACACTCACGTGCCCTCTGGGGACGTCTCTGCCATCTGGATATCTCTTGGATTTGAGATTATGTCTAGTTCTGGCTCTCCATTATCCATGAGTTTGAGATTGAAGATGATCACCAATGTTCCTGAGAAACAGAAATCTTTTGTCCTGCCAGATCCCCCGGCCCACCCCCACACTACTTGTGATTCTGGAGCTCCCAGATTCTAGGGGCTACAGGCTCAAAGCCTACTTACCGCTGTCCCCAGGAATCTTCATAAACTGGGTCATCACTTCCTCCTCAGTGCGGAATGGAGAGTACTTATAGATGAGTTCTGTCTCAATGGCAAATTTCTCTACATTGTCTGTGACAGGTTCCCGGGTCCGAGCATTCCAGGTGGGCAGTGGGACTATCACCTGTGGAGTAAACATGAGCAGGCACTTTAAGGGAAGCCCCAGAACAGCCTTCCTCCCAAATGTGCATCTCTCTTGTCCCTCCCCACAGCAGCTCCACACTGCCCTGTAGGTGAGGCCCAAGCTCCACAGCCTGGCACCAGAGGCTCTGTGAGCTTCAGGGCTTCTGCCTCTTCCCAAGACTCAGCCACACAAGACTACTTCCTTCAGGAGATGTTGGTTTATGTGCTTAGGGTCTCTGCATGAGAAGTTCCCTGCTTGGGACGTCCCTGGTCATTTTCTTAATTTGGTAAAAATTCTACTCTTACCACTAGGGAAAATATATTTGCAATTATCTAGTGAATCAGTAAATACACATAACATAACCTAAAACTCAGCAATTCCACTCCTAGGTACATACCCTAGGAGAAACTTTTGTACATATGTACCAGTAAACATGTACAAAAATAACCCAGGCCTGGTGCAGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGATGGACTGCCTGAGCTCAGGAGTTTGAGACCAGTCTGGGCAACATGGTGAATCCCGGTCTCCACTAAAATACAAAAAATTAGCCGGGCGTGGCAGCGTGCGTCTGTAGCCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAATAAATAAATAAATAAAAATAACCCAAATATCCATTCTAGAGTGGCCAAATTAAACTGTACAATGGAACACTATATAGTGATACAAATGAACTAACCACTACTAGCATCAACATGGATGAACAACATAAACACAGTGTTATATGAAATAGGATACAAAAAATACCTACAGTAAGAGTCCATTTCTAAAAAATTCACAAATAGGCAAAACTAAACTATTATTTAAAAATGCATACAAGGGTGACAAACTATAGTGAAAAAGAAGGAAATCATTATCACAAAAGTTACCTGAAGGCAGTTCCTTCGGGGGCACAAGAAGAAATATGACTGATGAGGGCACACAGGACACTTCTAACATCAGTCTGTGATGGTGGCAACACAGGTGTTGCCTTTAAAATTGTCCTCTGAACTGCATAAATATTTCAATACACTCTTCCATTTATGTGAAATTTAATTTAAATAATGTCTAAGTGATGTTTTAAAAAAATCCTACTCTTTCTTCAAAAACCCAACCTCATATGCCACTTCCCCAGAGGCTCCTCCCTCGGTGGTTATGAGGCCGCAGCCCTTGCAGAGCCCTGCAGATGGCTG
CATTTGACAAGCATTTGGCATTAAAACAAAGCAGTCTTGGTGACAGAATAGCAACCTGTCAATAATCAGTCCAAAAGCTACGTCAGTTTAAAAGATCCAAGGACAGGCCTGGCACTCACCGCTGCTTGGCCTCCTTGATCCTCTTCTTGACATCGGCTTCTCTGCGCAGAGTGATGGCTCTGTTCTGGACCTGTCGCAACATCACCTGCACACATTGACATCAGGTGAGGGGAGGTGGCACTCTAGGCCACAGCAGGGAATATTGAAACATTACATCTAAGACATCTCAATTTATCTCAAAGATGTAAAACCACACCTGGAAATTTACTTCTTTCTACAGAAAACAGCCCTCACTGGGGACAAACTCAAAAGCTGTGTTTTACTTGACCAGGCTCATGGGACATGGGCTCCTAGTGCCAGAAACGCTGGAGAACAGCCGCCTGGGCCGGGACCTTACCCTGGAGTCCCGCGTGAGGTCTCCACCTAGGCGTACTTCTAATGTCCGAGCTTTGCTCTCTGCCTCCCGCGCCTTCTCTTCAGCTGAAACCCAGAAGAGAACATGGTAAGAAATGCAAAGGTTCAAAACTCTTGGTCATCCCTCCTGGATCCACAGTACTGGACACGAAGTGTGTACACCACCAAGGAAAAAAAGAGTAGGGGGAGCTATGGCTGGTGAGCAATGTGAGGGCAGCCTCTGTGCCTGGACGGCAGTCAGTCACAGAAGGAAAATCTGGCATTCAAACCTATCACGGAGGCCCCAAGGAAACTTTACAAATGAACCAGAACAGGTTTAAAAAAAAAAAAAAAACACCTAAGGCAACCAGTTGAACACTCAGCTTGAGCTGGAAGCTAAAGAAGTCTTCAGCCAATCACTCTCCAACAAGCAGCCGAGAAACCCTGAGAAACCCTGAACAGCGAGAGAGCCCCTGAGATGTTTGCCCTGAAGTCAGGAAAAGCAATTTCACAAGTATTTGCACCAGAGAACTCAGTGGGATTCTTCAATTGGGATAAGCCAAAGAGCTGACACTTTTAGGCCCTATAAATGGCAGAAGAAGAGAAAGTGGAGTGTAGAAAGAAGAAATGCTGAGGGAGTTGGCATGTAGTGAAAGGGGCTGCAAAGGAACTGAACTATGCTTCAGGAGACCAGCCTTGTCCCTGAGTTGTGGACTCAGCCTTTTCCTGGAACCCCACTTTGCCCACAAGCAGCATACCCCAGATGCACACCCCCCCAACTCCTGCACCCAGAGTGGCATTACCAATCCTTGCTACGTGCTCTGCTTTCTTCACCTCCTGCTCCGCACGGGTCTTGAAACGGCTTGACGTGTACTTGTACATCCTGATCAGTAGAAAAAGCAAGCTGATGGCCCACGCAGCAGTGGGGCAGGTGGCACACCCAAGCACAGGAAGCACCCTGCCTTCCTGCCTCCTCCCAAGCTGTGCTGTCCTGGCCCCTCATGATGAGACAAATCCAAGCTCAATTCAGCAAAAAGGTGCAGTTCCTTATTCCACTTGCCCTTAGCCTCCTGCTGTCTTTGATAAGCAACCTCACCATTCACCAGGGTTGTCATTCATCCCACAGCAGAAACAAACCTCAGGAGTAAGCCAAGCCCACTGCTTTCCTATATAGTGTCTAAAGGCCCCTTGGCCCTAAAGCCAAGAGACTCAGACAGCTCACTGAGCCAGGCAGGGCACCCTCCCTGTCACAGAGGCACACATACTCAATGAGCTTAGCCAGCCACCTCCACAGCTGATCTGTCCCTCCTCTAGGACCCAGAACTGACCCTGTGACCAATCACAGGCAACTTAAAGTCCCAAACGTAGTCAGCACTGCCAGAGCCTCTTATACAGCATCCCTCTAACAATGCCCCAGAGAAACGCGGCCACATCCTCGACCCATGGGAGACAGCAGGCCAAGGGGCACTGGCCCCTACCTGGGCTTGTACAGGCAGCAGGAGAGCCTCTTGGTCTGCACCTTGTGCCCATGGATGAAGATCCTCATCCGGGGATCAATATAGAGCACAGCGGCATAGGCACGGAACGAGCGCCGCCCTGGCTTCCTGGAGAGGGCAAAAACAGAGAAGTGCTGTCACCTGCTCCACAACAGGCCTGACCAAGGGCACAACATCCTCTCTGCAGGCTCTCCACCTTTCCATGTTAGGTACTGACTTCTGCTGCTGCCCTGAACTGGTGCTCCCTTAGTGTGAGCACCACATCCCGCCCCTCTCACGTCCTCAGCACAGGCACCCCACAGGCAACTGAGCTGGCCCTACATACTACCCTACCACAGAACACTGGGCAATGAATGTGCTCTCCCCTCTTTCCCTGAAGCCATCTCCTGAGAGCACAAACGCCAGTTCCAGGGCCTCCCTCCCTTCCCAGCCACACTCACGTGCCCTCTGGGGACGTCTCTGCCATCTGGATATCTCTTGGATTTGAGATTATGTCTAGTTCTGGCTCTCCATTATCCATGAGTTTGAGATTGAAGATGATCACCAATGTTCCTGAGAAACAGAAATCTTTTGTCCTGCCAGATCCCCCGGCCCACCCCCACACTACTTGTGATTCTGGAGCTCCCAGATTCTAGGGGCTACAGGCTCAAAGCCTACTTACCGCTGTCCCCAGGAATCTTCATAAACTGGGTCATCACTTCCTCCTCAGTGCGGAATGGAGAGTACTTATAGATGAGTTCTGTCTCAATGGCAAATTTCTCTACATTGTCTGTGACAGGTTCCCGGGTCCGAGCATTCCAGGTGGGCAGTGGGACTATCACCTGTGGAGTAAACATGAGCAGGCACTTTAAGGGAAGCCCCAGAACAGCCTTCCTCCCAAATGTGCATCTCTCTTGTCCCTCCCCACAGCAGCTCCACACTGCCCTGTAGGTGAGGCCCAAGCTCCACAGCCTGGCACCAGAGGCTCTGTGAGCTTCAGGGCTTCTGCCTCTTCCCAAGACTCAGCCACACAAGACTACTTCCTTCAGGAGATGTTGGTTTATGTGCTTAGGGTCTCTGCATGAGAAGTTCCCTGCTTGGGACGTCCCTGGTCATTTTCTTAATTTGGTAAAAATTCTACTCTTACCACTAGGGAAAATATATTTGCAATTATCTAGTGAATCAGTAAATACACATAACATAACCTAAAACTCAGCAATTCCACTCCTAGGTACATACCCTAGGAGAAACTTTTGTACATATGTACCAGTAAACATGTACAAAAATAACCCAGGCCTGGTGCAGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGATGGACTGCCTGAGCTCAGGAGTTTGAGACCAGTCTGGGCAACATGGTGAATCCCGGTCTCCACTAAAATACAAAAAATTAGCCGGGCGTGGCAGCGTGCGTCTGTAGCCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAATAAATAAATAAATAAAAATAACCCAAATATCCATTCTAGAGTGGCCAAATTAAACTGTACAATGGAACACTATATAGTGATACAAATGAACTAACCACTACTAGCATCAACATGGATGAACAACATAAACACAGTGTTATATGAAATAGGATACAAAAAATACCTACAGTAAGAGTCCATTTCTAAAAAATTCACAAATAGGCAAAACTAAACTATTATTTAAAAATGCATACAAGGGTGACAAACTATAGTGAAAAAGAAGGAAATCATTATCACAAAAGTTACCTGAAGGCAGTTCCTTCGGGGGCACAAGAAGAAATATGACTGATGAGGGCACACAGGACACTTCTAACATCAGTCTGTGATGGTGGCAACACAGGTGTTGCCTTTAAAATTGTCCTCTGAACTGCATAAATATTTCAATACACTCTTCCATTTATGTGAAATTTAATTTAAATAATGTCTAAGTGATGTTTTAAAAAAATCCTACTCTTTCTTCAAAAACCCAACCTCATATGCCACTTCCCCAGAGGCTCCTCCCTCGGTGGTTATGAGGCCGCAGCCCTTGCAGAGCCCTGCAGATGGCTG
Task1_train_28707
Given a variant located on Chromosome 22 and affecting MORC2 (MORC family CW-type zinc finger 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; not provided
CATTTGACAAGCATTTGGCATTAAAACAAAGCAGTCTTGGTGACAGAATAGCAACCTGTCAATAATCAGTCCAAAAGCTACGTCAGTTTAAAAGATCCAAGGACAGGCCTGGCACTCACCGCTGCTTGGCCTCCTTGATCCTCTTCTTGACATCGGCTTCTCTGCGCAGAGTGATGGCTCTGTTCTGGACCTGTCGCAACATCACCTGCACACATTGACATCAGGTGAGGGGAGGTGGCACTCTAGGCCACAGCAGGGAATATTGAAACATTACATCTAAGACATCTCAATTTATCTCAAAGATGTAAAACCACACCTGGAAATTTACTTCTTTCTACAGAAAACAGCCCTCACTGGGGACAAACTCAAAAGCTGTGTTTTACTTGACCAGGCTCATGGGACATGGGCTCCTAGTGCCAGAAACGCTGGAGAACAGCCGCCTGGGCCGGGACCTTACCCTGGAGTCCCGCGTGAGGTCTCCACCTAGGCGTACTTCTAATGTCCGAGCTTTGCTCTCTGCCTCCCGCGCCTTCTCTTCAGCTGAAACCCAGAAGAGAACATGGTAAGAAATGCAAAGGTTCAAAACTCTTGGTCATCCCTCCTGGATCCACAGTACTGGACACGAAGTGTGTACACCACCAAGGAAAAAAAGAGTAGGGGGAGCTATGGCTGGTGAGCAATGTGAGGGCAGCCTCTGTGCCTGGACGGCAGTCAGTCACAGAAGGAAAATCTGGCATTCAAACCTATCACGGAGGCCCCAAGGAAACTTTACAAATGAACCAGAACAGGTTTAAAAAAAAAAAAAAAACACCTAAGGCAACCAGTTGAACACTCAGCTTGAGCTGGAAGCTAAAGAAGTCTTCAGCCAATCACTCTCCAACAAGCAGCCGAGAAACCCTGAGAAACCCTGAACAGCGAGAGAGCCCCTGAGATGTTTGCCCTGAAGTCAGGAAAAGCAATTTCACAAGTATTTGCACCAGAGAACTCAGTGGGATTCTTCAATTGGGATAAGCCAAAGAGCTGACACTTTTAGGCCCTATAAATGGCAGAAGAAGAGAAAGTGGAGTGTAGAAAGAAGAAATGCTGAGGGAGTTGGCATGTAGTGAAAGGGGCTGCAAAGGAACTGAACTATGCTTCAGGAGACCAGCCTTGTCCCTGAGTTGTGGACTCAGCCTTTTCCTGGAACCCCACTTTGCCCACAAGCAGCATACCCCAGATGCACACCCCCCCAACTCCTGCACCCAGAGTGGCATTACCAATCCTTGCTACGTGCTCTGCTTTCTTCACCTCCTGCTCCGCACGGGTCTTGAAACGGCTTGACGTGTACTTGTACATCCTGATCAGTAGAAAAAGCAAGCTGATGGCCCACGCAGCAGTGGGGCAGGTGGCACACCCAAGCACAGGAAGCACCCTGCCTTCCTGCCTCCTCCCAAGCTGTGCTGTCCTGGCCCCTCATGATGAGACAAATCCAAGCTCAATTCAGCAAAAAGGTGCAGTTCCTTATTCCACTTGCCCTTAGCCTCCTGCTGTCTTTGATAAGCAACCTCACCATTCACCAGGGTTGTCATTCATCCCACAGCAGAAACAAACCTCAGGAGTAAGCCAAGCCCACTGCTTTCCTATATAGTGTCTAAAGGCCCCTTGGCCCTAAAGCCAAGAGACTCAGACAGCTCACTGAGCCAGGCAGGGCACCCTCCCTGTCACAGAGGCACACATACTCAATGAGCTTAGCCAGCCACCTCCACAGCTGATCTGTCCCTCCTCTAGGACCCAGAACTGACCCTGTGACCAATCACAGGCAACTTAAAGTCCCAAACGTAGTCAGCACTGCCAGAGCCTCTTATACAGCATCCCTCTAACAATGCCCCAGAGAAACGCGGCCACATCCTCGACCCATGGGAGACAGCAGGCCAAGGGGCACTGGCCCCTACCTGGGCTTGTACAGGCAGCAGGAGAGCCTCTTGGTCTGCACCTTGTGCCCATGGATGAAGATCCTCATCCGGGGATCAATATAGAGCACAGCGGCATAGGCACGGAACGAGCGCCGCTCTGGCTTCCTGGAGAGGGCAAAAACAGAGAAGTGCTGTCACCTGCTCCACAACAGGCCTGACCAAGGGCACAACATCCTCTCTGCAGGCTCTCCACCTTTCCATGTTAGGTACTGACTTCTGCTGCTGCCCTGAACTGGTGCTCCCTTAGTGTGAGCACCACATCCCGCCCCTCTCACGTCCTCAGCACAGGCACCCCACAGGCAACTGAGCTGGCCCTACATACTACCCTACCACAGAACACTGGGCAATGAATGTGCTCTCCCCTCTTTCCCTGAAGCCATCTCCTGAGAGCACAAACGCCAGTTCCAGGGCCTCCCTCCCTTCCCAGCCACACTCACGTGCCCTCTGGGGACGTCTCTGCCATCTGGATATCTCTTGGATTTGAGATTATGTCTAGTTCTGGCTCTCCATTATCCATGAGTTTGAGATTGAAGATGATCACCAATGTTCCTGAGAAACAGAAATCTTTTGTCCTGCCAGATCCCCCGGCCCACCCCCACACTACTTGTGATTCTGGAGCTCCCAGATTCTAGGGGCTACAGGCTCAAAGCCTACTTACCGCTGTCCCCAGGAATCTTCATAAACTGGGTCATCACTTCCTCCTCAGTGCGGAATGGAGAGTACTTATAGATGAGTTCTGTCTCAATGGCAAATTTCTCTACATTGTCTGTGACAGGTTCCCGGGTCCGAGCATTCCAGGTGGGCAGTGGGACTATCACCTGTGGAGTAAACATGAGCAGGCACTTTAAGGGAAGCCCCAGAACAGCCTTCCTCCCAAATGTGCATCTCTCTTGTCCCTCCCCACAGCAGCTCCACACTGCCCTGTAGGTGAGGCCCAAGCTCCACAGCCTGGCACCAGAGGCTCTGTGAGCTTCAGGGCTTCTGCCTCTTCCCAAGACTCAGCCACACAAGACTACTTCCTTCAGGAGATGTTGGTTTATGTGCTTAGGGTCTCTGCATGAGAAGTTCCCTGCTTGGGACGTCCCTGGTCATTTTCTTAATTTGGTAAAAATTCTACTCTTACCACTAGGGAAAATATATTTGCAATTATCTAGTGAATCAGTAAATACACATAACATAACCTAAAACTCAGCAATTCCACTCCTAGGTACATACCCTAGGAGAAACTTTTGTACATATGTACCAGTAAACATGTACAAAAATAACCCAGGCCTGGTGCAGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGATGGACTGCCTGAGCTCAGGAGTTTGAGACCAGTCTGGGCAACATGGTGAATCCCGGTCTCCACTAAAATACAAAAAATTAGCCGGGCGTGGCAGCGTGCGTCTGTAGCCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAATAAATAAATAAATAAAAATAACCCAAATATCCATTCTAGAGTGGCCAAATTAAACTGTACAATGGAACACTATATAGTGATACAAATGAACTAACCACTACTAGCATCAACATGGATGAACAACATAAACACAGTGTTATATGAAATAGGATACAAAAAATACCTACAGTAAGAGTCCATTTCTAAAAAATTCACAAATAGGCAAAACTAAACTATTATTTAAAAATGCATACAAGGGTGACAAACTATAGTGAAAAAGAAGGAAATCATTATCACAAAAGTTACCTGAAGGCAGTTCCTTCGGGGGCACAAGAAGAAATATGACTGATGAGGGCACACAGGACACTTCTAACATCAGTCTGTGATGGTGGCAACACAGGTGTTGCCTTTAAAATTGTCCTCTGAACTGCATAAATATTTCAATACACTCTTCCATTTATGTGAAATTTAATTTAAATAATGTCTAAGTGATGTTTTAAAAAAATCCTACTCTTTCTTCAAAAACCCAACCTCATATGCCACTTCCCCAGAGGCTCCTCCCTCGGTGGTTATGAGGCCGCAGCCCTTGCAGAGCCCTGCAGATGGCTG
CATTTGACAAGCATTTGGCATTAAAACAAAGCAGTCTTGGTGACAGAATAGCAACCTGTCAATAATCAGTCCAAAAGCTACGTCAGTTTAAAAGATCCAAGGACAGGCCTGGCACTCACCGCTGCTTGGCCTCCTTGATCCTCTTCTTGACATCGGCTTCTCTGCGCAGAGTGATGGCTCTGTTCTGGACCTGTCGCAACATCACCTGCACACATTGACATCAGGTGAGGGGAGGTGGCACTCTAGGCCACAGCAGGGAATATTGAAACATTACATCTAAGACATCTCAATTTATCTCAAAGATGTAAAACCACACCTGGAAATTTACTTCTTTCTACAGAAAACAGCCCTCACTGGGGACAAACTCAAAAGCTGTGTTTTACTTGACCAGGCTCATGGGACATGGGCTCCTAGTGCCAGAAACGCTGGAGAACAGCCGCCTGGGCCGGGACCTTACCCTGGAGTCCCGCGTGAGGTCTCCACCTAGGCGTACTTCTAATGTCCGAGCTTTGCTCTCTGCCTCCCGCGCCTTCTCTTCAGCTGAAACCCAGAAGAGAACATGGTAAGAAATGCAAAGGTTCAAAACTCTTGGTCATCCCTCCTGGATCCACAGTACTGGACACGAAGTGTGTACACCACCAAGGAAAAAAAGAGTAGGGGGAGCTATGGCTGGTGAGCAATGTGAGGGCAGCCTCTGTGCCTGGACGGCAGTCAGTCACAGAAGGAAAATCTGGCATTCAAACCTATCACGGAGGCCCCAAGGAAACTTTACAAATGAACCAGAACAGGTTTAAAAAAAAAAAAAAAACACCTAAGGCAACCAGTTGAACACTCAGCTTGAGCTGGAAGCTAAAGAAGTCTTCAGCCAATCACTCTCCAACAAGCAGCCGAGAAACCCTGAGAAACCCTGAACAGCGAGAGAGCCCCTGAGATGTTTGCCCTGAAGTCAGGAAAAGCAATTTCACAAGTATTTGCACCAGAGAACTCAGTGGGATTCTTCAATTGGGATAAGCCAAAGAGCTGACACTTTTAGGCCCTATAAATGGCAGAAGAAGAGAAAGTGGAGTGTAGAAAGAAGAAATGCTGAGGGAGTTGGCATGTAGTGAAAGGGGCTGCAAAGGAACTGAACTATGCTTCAGGAGACCAGCCTTGTCCCTGAGTTGTGGACTCAGCCTTTTCCTGGAACCCCACTTTGCCCACAAGCAGCATACCCCAGATGCACACCCCCCCAACTCCTGCACCCAGAGTGGCATTACCAATCCTTGCTACGTGCTCTGCTTTCTTCACCTCCTGCTCCGCACGGGTCTTGAAACGGCTTGACGTGTACTTGTACATCCTGATCAGTAGAAAAAGCAAGCTGATGGCCCACGCAGCAGTGGGGCAGGTGGCACACCCAAGCACAGGAAGCACCCTGCCTTCCTGCCTCCTCCCAAGCTGTGCTGTCCTGGCCCCTCATGATGAGACAAATCCAAGCTCAATTCAGCAAAAAGGTGCAGTTCCTTATTCCACTTGCCCTTAGCCTCCTGCTGTCTTTGATAAGCAACCTCACCATTCACCAGGGTTGTCATTCATCCCACAGCAGAAACAAACCTCAGGAGTAAGCCAAGCCCACTGCTTTCCTATATAGTGTCTAAAGGCCCCTTGGCCCTAAAGCCAAGAGACTCAGACAGCTCACTGAGCCAGGCAGGGCACCCTCCCTGTCACAGAGGCACACATACTCAATGAGCTTAGCCAGCCACCTCCACAGCTGATCTGTCCCTCCTCTAGGACCCAGAACTGACCCTGTGACCAATCACAGGCAACTTAAAGTCCCAAACGTAGTCAGCACTGCCAGAGCCTCTTATACAGCATCCCTCTAACAATGCCCCAGAGAAACGCGGCCACATCCTCGACCCATGGGAGACAGCAGGCCAAGGGGCACTGGCCCCTACCTGGGCTTGTACAGGCAGCAGGAGAGCCTCTTGGTCTGCACCTTGTGCCCATGGATGAAGATCCTCATCCGGGGATCAATATAGAGCACAGCGGCATAGGCACGGAACGAGCGCCGCGCTGGCTTCCTGGAGAGGGCAAAAACAGAGAAGTGCTGTCACCTGCTCCACAACAGGCCTGACCAAGGGCACAACATCCTCTCTGCAGGCTCTCCACCTTTCCATGTTAGGTACTGACTTCTGCTGCTGCCCTGAACTGGTGCTCCCTTAGTGTGAGCACCACATCCCGCCCCTCTCACGTCCTCAGCACAGGCACCCCACAGGCAACTGAGCTGGCCCTACATACTACCCTACCACAGAACACTGGGCAATGAATGTGCTCTCCCCTCTTTCCCTGAAGCCATCTCCTGAGAGCACAAACGCCAGTTCCAGGGCCTCCCTCCCTTCCCAGCCACACTCACGTGCCCTCTGGGGACGTCTCTGCCATCTGGATATCTCTTGGATTTGAGATTATGTCTAGTTCTGGCTCTCCATTATCCATGAGTTTGAGATTGAAGATGATCACCAATGTTCCTGAGAAACAGAAATCTTTTGTCCTGCCAGATCCCCCGGCCCACCCCCACACTACTTGTGATTCTGGAGCTCCCAGATTCTAGGGGCTACAGGCTCAAAGCCTACTTACCGCTGTCCCCAGGAATCTTCATAAACTGGGTCATCACTTCCTCCTCAGTGCGGAATGGAGAGTACTTATAGATGAGTTCTGTCTCAATGGCAAATTTCTCTACATTGTCTGTGACAGGTTCCCGGGTCCGAGCATTCCAGGTGGGCAGTGGGACTATCACCTGTGGAGTAAACATGAGCAGGCACTTTAAGGGAAGCCCCAGAACAGCCTTCCTCCCAAATGTGCATCTCTCTTGTCCCTCCCCACAGCAGCTCCACACTGCCCTGTAGGTGAGGCCCAAGCTCCACAGCCTGGCACCAGAGGCTCTGTGAGCTTCAGGGCTTCTGCCTCTTCCCAAGACTCAGCCACACAAGACTACTTCCTTCAGGAGATGTTGGTTTATGTGCTTAGGGTCTCTGCATGAGAAGTTCCCTGCTTGGGACGTCCCTGGTCATTTTCTTAATTTGGTAAAAATTCTACTCTTACCACTAGGGAAAATATATTTGCAATTATCTAGTGAATCAGTAAATACACATAACATAACCTAAAACTCAGCAATTCCACTCCTAGGTACATACCCTAGGAGAAACTTTTGTACATATGTACCAGTAAACATGTACAAAAATAACCCAGGCCTGGTGCAGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGATGGACTGCCTGAGCTCAGGAGTTTGAGACCAGTCTGGGCAACATGGTGAATCCCGGTCTCCACTAAAATACAAAAAATTAGCCGGGCGTGGCAGCGTGCGTCTGTAGCCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAATAAATAAATAAATAAAAATAACCCAAATATCCATTCTAGAGTGGCCAAATTAAACTGTACAATGGAACACTATATAGTGATACAAATGAACTAACCACTACTAGCATCAACATGGATGAACAACATAAACACAGTGTTATATGAAATAGGATACAAAAAATACCTACAGTAAGAGTCCATTTCTAAAAAATTCACAAATAGGCAAAACTAAACTATTATTTAAAAATGCATACAAGGGTGACAAACTATAGTGAAAAAGAAGGAAATCATTATCACAAAAGTTACCTGAAGGCAGTTCCTTCGGGGGCACAAGAAGAAATATGACTGATGAGGGCACACAGGACACTTCTAACATCAGTCTGTGATGGTGGCAACACAGGTGTTGCCTTTAAAATTGTCCTCTGAACTGCATAAATATTTCAATACACTCTTCCATTTATGTGAAATTTAATTTAAATAATGTCTAAGTGATGTTTTAAAAAAATCCTACTCTTTCTTCAAAAACCCAACCTCATATGCCACTTCCCCAGAGGCTCCTCCCTCGGTGGTTATGAGGCCGCAGCCCTTGCAGAGCCCTGCAGATGGCTG
Task1_train_28708
The gene MORC2 (MORC family CW-type zinc finger 2) is located on Chromosome 22, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Charcot-Marie-Tooth disease axonal type 2Z
AATGGCATCACTTTAAACATTGGCTTTCACTCCCATGGGCACCCCATCCCTCCCCTCAGGAACACTTCTCCTTTAGTTCAATGGTACACTTGCCCAGTTTTCTTCCTACCTTTCTGGCTACCCCTTTGTCCCTCTGGCCCCCTTCTCCTCTCCCCGACCTTTAGATATTGACATGCTCTAGGTCCCAGATCCTCTTCTCACTCTATTCTCTCCATTAGGTGACCTCGTTTGCTACCAAGAATGCTGAAGCCCCCAGACTTCCCCCAAATGCCAGACCCAGACTGCACTTTGCATGTCCAGAAGAAACTTACACTCTTCCCCTCCATACTTCCCCTCTTCATTCTTCCCAATTCCAGAGACCCCACTCCCCAACTGCCACAGCAGAACCTATGAGTCATCCATGACTCCCCTGCTTCGCTTTCGCCTTCTACTAATCAATCAATCACCAAATCTGTGGGTCCCACATCCTAAAGAGATGGAAACTCCATGTATTTCTCTCACCTCCCTTGGGCGAGTACCGCCAAGCTACAGAGCCTGGGCCTCTCAACTGGAACACTCCAACACTCACCCTAACCTTTCCAACCCAATCACCACACAATCGCTACATGGACCTTCTTAAAAGAATCTGATACTGGCACATCCTTGCTTAATAAAGCCCCACACATTCATCAAGGCCCCGAGGTCAAGCCTAACCTGGCCCTCTCTGATCTCCAAAGGCCACCACCTTTCTCCAGGTGGCCCTGCAGCCAAGTCCCCTCCCACAGCCCTCAGGGCCTTAAGCAGGCTGCTTCTACTGACTTCCATACCCTCCTGTCACCATCCTCAGTCCTGTATCAGGAAACATTCCTGAAAACCCCAACCCAGGCTATATTTTCCTATCCTACTTCTCCTAGAAGCCTGCTCTTTCCAGCTGCCACGCTTCTCTCACTCAAGTATGCAGAATGAACTCACATACCACACCAAAAAGGCAGACAAACCCACTGGCTTGCTACGTAATGACGGAAGGCCTACCATTCCCTACCTGAACAAGTTTGCTATGATTAAGGCTCAGATCTAAACAGAACCAGAACAAATTTAATCACAGCTAATCAACACAGATGAATTAAATTGTAAGTCTGAATTCAATTACCTGCTTCTGTGGAAGTTGCGGATTTCTTTCCACAGAACCTCTTAGCCCCCCTTCTTTCAAGCCCTGGCCTCCATGTCTTACATAGGAAAGGAGATAAGAGTCCAGTCTGAGGCTGGGTAGTCCACAGAGCTGCCCTGATCTCCCACAATGAGGGGGCATAGACCTCACCAGAAACAGCTCTGCAGACATCTGAGCCACAAGGAGAATCGGCCAAATGTGTGTTTAGCTTACATAGTCAATTACTAAAATGATTTAAACTCAGAATATTCTGGATTCATTAGTCCTTCCTTCCAGCATAGCAGTAATCACTGGGGCTGTGTAGCAGCCACTCCCAAGACGAGACCCACAGCATCAGCTCTGTTTTCCTGTTCTCCATACACTCACCTGCTTTACTACCTGCCCAGGCTCTCTCTAGGTATCTGAGTCATAGTTTCTGACATAGAGTAACACATTTCTTCAAAAGGAAAATGAGCTCATAGCACATTCCACAAAATCACCACCAAATAGGAAACACCATGATCAGGGAAGCCCAAAATACTCCCCCTGATAAAACAATGTTCCATGGTAACACTCCCCCCAAAATGGAATTCAAGTGGCAGATCTAGAGGAGCTGCAAATCCAACTCTTAATTCCTGCCACTTGACAGTCTCATTCTCGGAAACAGTTGTTCTCTGAAGTGCTCTGAGATTTTGCTTCCTCTCACATTAAAGTTATCTACCTTAACCCCTCAACCAATTCATCCAGCCAGCTAACTGCATAACAATTAGGGGGAATGTGCTCCAATCCTGCAACCCCAAAGAGTCTAGCATTGCAAATAACCTACGAAAACCGCCTGGGCAGACTCAGGAAATGAGGACTGGTGATGCAGACCACGATGATGGGACCTACTTCATCAATGCCTTCTTCCTCATGAAACGTGCGAGACAGGAAGAGGCAGGTCATGGTGTCTTCCTTCTTGGTGAACAGGATAAAATCCTTCCCAATGCGCATTGAGCCCCTGAAAAGGAAACAGAAATGGGTGTTATTCTCCCAGGAGTCAAAAGCTCATCTGCAAAAGAAATCAATCCACTCTGGACATGATTGAAAGTGCCACTGGAGGGCTCTCCTAAAGGCCCCCCCAGGTCCCAGGACTGTGTGCTGAGTTCCACAGCCCTCGTTCCCTCTCCATCCCCCAACACTCCTTCCTCTGCTTTTCCACAGGCCTGTAACTCCTTAGTCTTTACTTACAACGTTCTCAACCACACCATACAGGGTTCTCTCACCACCCTTCTAGGGCGGGCTCACGGCAGACCACCAGCCCCAGGTTAGTCTCACTCCCCCCACAACGCTGAAGAGTAACCCTGCTGTCTTTGAGCTCTTGGTTCATCCCAGACGCATGAGAGGTGCTGTGCCCTCTGACTGTACCACCATCAGACTTTAGTAGCTGGTACCCTCAACACGTCATCTTCCATGCTGACCACCCCCAGTTCCCACCGTGTCCTTCCTCAGCTGACACAAACTCCCCTCCATTGACGAAACGGCAGCAGCACTGTTAAGTGAAAAGCCCAGTGCCTATACTCACAAGCCCGAGAAAACATCAGTATGAACCCAAGGCGCAGTAATACAGAGGGGCTAATAAAATATAATTCTTGACCACAGGATTCAAGGATGCCTGTAATTAGCTCATGTCCAATAACTGGAGCTATCTCCTGTCCCAGAAGTGTTTTGCCACCTCAAGCTCATTATGACACAGGCAGCTCCCTGCTTTTGGATGCAACTGGTTTCTGGGAACTGTGCCTTGAGGCTGATTTCCAAAAGGCAAAAGTCTGAATGGATTCAACTGCTTCCTTCCTCTGTTTGGCCACATTAAGCTGGCTAAGAAGCAGGCAGGGACAGGCCTTTCCAGGCAACGCAGGGCAGGGCAGAAGTGTGAAGCACCAGCAGGGGGACCGCCCTCTGAACAATGGGGCTGTTCAGCTCCTTTCTTCCAGCAGCTTCTGGAGCTTTATGGCTATTATCTCATTAGTCTTTATAACACCCCAGGGAGATGATGGAGGTGGAAAGCCTCATTACTCTCTTCTGTGTACCAATACAAACCAGACTGGCATGCCAAGCACACAAATGAATGTCATGCCCCATTTCCCCAAACACTCAGGAAAACTCCCAGGACACTATTCAAAGATACCCTGGGGGCTGCCAAGTCCTCGTTCTCCTCCTCCAGTACCCAAAGTGCTGGCAATGCTCCTTGCCCTGAAAATTTCACACACCACCTCCTCCTCCTTCCCTAAAGCGTATGGGGAGCAAGTAAGGCACGTTATCTTGCCTTCTGTCAAAGCATGCCCTTGCCCTAATTTGGCAAAAACTCTCACTTTGTGCCTCTATCTTCCTTCTGTCTTTGATTCTGACTTTAGCCTTTGAATAGCAAAAGCCCCAAATATCACTTCTCTAACTGGCTTCCTTGCTTCTCAGCCCTATTCTCCCCACAAATCACCTTCTCCTGAAACTTATTCAACTTCTGAATTGGTTTCAAGATGATTTTACTGTCTACTCTGAACACTAGATGGCTCCATCTCAATGGGACCTTCACAAAAGTCTTCCACTGAAATACGCTAATAACACTCTCAACTTCTATACGCTTTCCTTCCCAGTCTGCTAACCACTTTCAGAGTCACATTTCATTTGCTTCTGAACCTCACTCTATAAATGTCAGAGATTAGAACCCCATTTTCTAGAGTAAGAAACAGACATTCAGGGAGGTGAAATGGCTTGCCTGAGGCCATTAAGAAACAGACATTCAGAGAGGTGAAATGGCTTGCCTGAGGCCACAGAACTGACAGAACCAGGTAGGAGGAGGCTGATCTACAATCTAGATGAAAAGTCAGGGCTTCCCCTGATTCTAGGAGACTTCAGTTTTGGGGGATTTAGATAACCTGCATTAGAATCATATGATTACAGGTGATTCATTTCATCTGTGAAAAACACATTCCT
AATGGCATCACTTTAAACATTGGCTTTCACTCCCATGGGCACCCCATCCCTCCCCTCAGGAACACTTCTCCTTTAGTTCAATGGTACACTTGCCCAGTTTTCTTCCTACCTTTCTGGCTACCCCTTTGTCCCTCTGGCCCCCTTCTCCTCTCCCCGACCTTTAGATATTGACATGCTCTAGGTCCCAGATCCTCTTCTCACTCTATTCTCTCCATTAGGTGACCTCGTTTGCTACCAAGAATGCTGAAGCCCCCAGACTTCCCCCAAATGCCAGACCCAGACTGCACTTTGCATGTCCAGAAGAAACTTACACTCTTCCCCTCCATACTTCCCCTCTTCATTCTTCCCAATTCCAGAGACCCCACTCCCCAACTGCCACAGCAGAACCTATGAGTCATCCATGACTCCCCTGCTTCGCTTTCGCCTTCTACTAATCAATCAATCACCAAATCTGTGGGTCCCACATCCTAAAGAGATGGAAACTCCATGTATTTCTCTCACCTCCCTTGGGCGAGTACCGCCAAGCTACAGAGCCTGGGCCTCTCAACTGGAACACTCCAACACTCACCCTAACCTTTCCAACCCAATCACCACACAATCGCTACATGGACCTTCTTAAAAGAATCTGATACTGGCACATCCTTGCTTAATAAAGCCCCACACATTCATCAAGGCCCCGAGGTCAAGCCTAACCTGGCCCTCTCTGATCTCCAAAGGCCACCACCTTTCTCCAGGTGGCCCTGCAGCCAAGTCCCCTCCCACAGCCCTCAGGGCCTTAAGCAGGCTGCTTCTACTGACTTCCATACCCTCCTGTCACCATCCTCAGTCCTGTATCAGGAAACATTCCTGAAAACCCCAACCCAGGCTATATTTTCCTATCCTACTTCTCCTAGAAGCCTGCTCTTTCCAGCTGCCACGCTTCTCTCACTCAAGTATGCAGAATGAACTCACATACCACACCAAAAAGGCAGACAAACCCACTGGCTTGCTACGTAATGACGGAAGGCCTACCATTCCCTACCTGAACAAGTTTGCTATGATTAAGGCTCAGATCTAAACAGAACCAGAACAAATTTAATCACAGCTAATCAACACAGATGAATTAAATTGTAAGTCTGAATTCAATTACCTGCTTCTGTGGAAGTTGCGGATTTCTTTCCACAGAACCTCTTAGCCCCCCTTCTTTCAAGCCCTGGCCTCCATGTCTTACATAGGAAAGGAGATAAGAGTCCAGTCTGAGGCTGGGTAGTCCACAGAGCTGCCCTGATCTCCCACAATGAGGGGGCATAGACCTCACCAGAAACAGCTCTGCAGACATCTGAGCCACAAGGAGAATCGGCCAAATGTGTGTTTAGCTTACATAGTCAATTACTAAAATGATTTAAACTCAGAATATTCTGGATTCATTAGTCCTTCCTTCCAGCATAGCAGTAATCACTGGGGCTGTGTAGCAGCCACTCCCAAGACGAGACCCACAGCATCAGCTCTGTTTTCCTGTTCTCCATACACTCACCTGCTTTACTACCTGCCCAGGCTCTCTCTAGGTATCTGAGTCATAGTTTCTGACATAGAGTAACACATTTCTTCAAAAGGAAAATGAGCTCATAGCACATTCCACAAAATCACCACCAAATAGGAAACACCATGATCAGGGAAGCCCAAAATACTCCCCCTGATAAAACAATGTTCCATGGTAACACTCCCCCCAAAATGGAATTCAAGTGGCAGATCTAGAGGAGCTGCAAATCCAACTCTTAATTCCTGCCACTTGACAGTCTCATTCTCGGAAACAGTTGTTCTCTGAAGTGCTCTGAGATTTTGCTTCCTCTCACATTAAAGTTATCTACCTTAACCCCTCAACCAATTCATCCAGCCAGCTAACTGCATAACAATTAGGGGGAATGTGCTCCAATCCTGCAACCCCAAAGAGTCTAGCATTGCAAATAACCTACGAAAACCGCCTGGGCAGACTCAGGAAATGAGGACTGGTGATGCAGACCACGATGATGGGACCTACTTCATCAATGCCTTCTTCCTCATGAAACGTGAGAGACAGGAAGAGGCAGGTCATGGTGTCTTCCTTCTTGGTGAACAGGATAAAATCCTTCCCAATGCGCATTGAGCCCCTGAAAAGGAAACAGAAATGGGTGTTATTCTCCCAGGAGTCAAAAGCTCATCTGCAAAAGAAATCAATCCACTCTGGACATGATTGAAAGTGCCACTGGAGGGCTCTCCTAAAGGCCCCCCCAGGTCCCAGGACTGTGTGCTGAGTTCCACAGCCCTCGTTCCCTCTCCATCCCCCAACACTCCTTCCTCTGCTTTTCCACAGGCCTGTAACTCCTTAGTCTTTACTTACAACGTTCTCAACCACACCATACAGGGTTCTCTCACCACCCTTCTAGGGCGGGCTCACGGCAGACCACCAGCCCCAGGTTAGTCTCACTCCCCCCACAACGCTGAAGAGTAACCCTGCTGTCTTTGAGCTCTTGGTTCATCCCAGACGCATGAGAGGTGCTGTGCCCTCTGACTGTACCACCATCAGACTTTAGTAGCTGGTACCCTCAACACGTCATCTTCCATGCTGACCACCCCCAGTTCCCACCGTGTCCTTCCTCAGCTGACACAAACTCCCCTCCATTGACGAAACGGCAGCAGCACTGTTAAGTGAAAAGCCCAGTGCCTATACTCACAAGCCCGAGAAAACATCAGTATGAACCCAAGGCGCAGTAATACAGAGGGGCTAATAAAATATAATTCTTGACCACAGGATTCAAGGATGCCTGTAATTAGCTCATGTCCAATAACTGGAGCTATCTCCTGTCCCAGAAGTGTTTTGCCACCTCAAGCTCATTATGACACAGGCAGCTCCCTGCTTTTGGATGCAACTGGTTTCTGGGAACTGTGCCTTGAGGCTGATTTCCAAAAGGCAAAAGTCTGAATGGATTCAACTGCTTCCTTCCTCTGTTTGGCCACATTAAGCTGGCTAAGAAGCAGGCAGGGACAGGCCTTTCCAGGCAACGCAGGGCAGGGCAGAAGTGTGAAGCACCAGCAGGGGGACCGCCCTCTGAACAATGGGGCTGTTCAGCTCCTTTCTTCCAGCAGCTTCTGGAGCTTTATGGCTATTATCTCATTAGTCTTTATAACACCCCAGGGAGATGATGGAGGTGGAAAGCCTCATTACTCTCTTCTGTGTACCAATACAAACCAGACTGGCATGCCAAGCACACAAATGAATGTCATGCCCCATTTCCCCAAACACTCAGGAAAACTCCCAGGACACTATTCAAAGATACCCTGGGGGCTGCCAAGTCCTCGTTCTCCTCCTCCAGTACCCAAAGTGCTGGCAATGCTCCTTGCCCTGAAAATTTCACACACCACCTCCTCCTCCTTCCCTAAAGCGTATGGGGAGCAAGTAAGGCACGTTATCTTGCCTTCTGTCAAAGCATGCCCTTGCCCTAATTTGGCAAAAACTCTCACTTTGTGCCTCTATCTTCCTTCTGTCTTTGATTCTGACTTTAGCCTTTGAATAGCAAAAGCCCCAAATATCACTTCTCTAACTGGCTTCCTTGCTTCTCAGCCCTATTCTCCCCACAAATCACCTTCTCCTGAAACTTATTCAACTTCTGAATTGGTTTCAAGATGATTTTACTGTCTACTCTGAACACTAGATGGCTCCATCTCAATGGGACCTTCACAAAAGTCTTCCACTGAAATACGCTAATAACACTCTCAACTTCTATACGCTTTCCTTCCCAGTCTGCTAACCACTTTCAGAGTCACATTTCATTTGCTTCTGAACCTCACTCTATAAATGTCAGAGATTAGAACCCCATTTTCTAGAGTAAGAAACAGACATTCAGGGAGGTGAAATGGCTTGCCTGAGGCCATTAAGAAACAGACATTCAGAGAGGTGAAATGGCTTGCCTGAGGCCACAGAACTGACAGAACCAGGTAGGAGGAGGCTGATCTACAATCTAGATGAAAAGTCAGGGCTTCCCCTGATTCTAGGAGACTTCAGTTTTGGGGGATTTAGATAACCTGCATTAGAATCATATGATTACAGGTGATTCATTTCATCTGTGAAAAACACATTCCT
Task1_train_28709
This gene mutation involves MORC2 (MORC family CW-type zinc finger 2) on Chromosome 22. Is it associated with any clinical condition, or is it benign?
Pathogenic; Inborn genetic diseases
TCAAAGCATGCCCTTGCCCTAATTTGGCAAAAACTCTCACTTTGTGCCTCTATCTTCCTTCTGTCTTTGATTCTGACTTTAGCCTTTGAATAGCAAAAGCCCCAAATATCACTTCTCTAACTGGCTTCCTTGCTTCTCAGCCCTATTCTCCCCACAAATCACCTTCTCCTGAAACTTATTCAACTTCTGAATTGGTTTCAAGATGATTTTACTGTCTACTCTGAACACTAGATGGCTCCATCTCAATGGGACCTTCACAAAAGTCTTCCACTGAAATACGCTAATAACACTCTCAACTTCTATACGCTTTCCTTCCCAGTCTGCTAACCACTTTCAGAGTCACATTTCATTTGCTTCTGAACCTCACTCTATAAATGTCAGAGATTAGAACCCCATTTTCTAGAGTAAGAAACAGACATTCAGGGAGGTGAAATGGCTTGCCTGAGGCCATTAAGAAACAGACATTCAGAGAGGTGAAATGGCTTGCCTGAGGCCACAGAACTGACAGAACCAGGTAGGAGGAGGCTGATCTACAATCTAGATGAAAAGTCAGGGCTTCCCCTGATTCTAGGAGACTTCAGTTTTGGGGGATTTAGATAACCTGCATTAGAATCATATGATTACAGGTGATTCATTTCATCTGTGAAAAACACATTCCTAGCCCCTACCCAGATCCACTGAATCAGGCCAGCAATCTGCCATGGAAACATCAAAGGAGGAGAAATAAAGGCAGAAACCAGGCTCTCACAGCAATGATAGCATGTAATTCTTAACCTACTTGGTATGCATTATCATCTCAATTTACAAAGGAGGAAGCTGAGGCTTAGAGACGTAGTAGCGGAAGTGAGATTTGAACCTTAGCTTGTCATTTAAGTGAAATGCACAGCAGCTCCATTTTGCAGTCAGAAAGACCTGGTTCCTACCCTAGCGCTCTACACATAGGCATTTTTAATGCCTTTGGGAAAGTAACTTCACCCTTATAAACCTCAATTTCTTCATCTGAAAATAATAGTACCTACAACCTCACAGGGCTATCATGAGGATTAAATGAGATTATTCGTGTGCCTGGCACATGGTAAGTGTCTGTTATTACCATTTGGTTCCTGCCCTGAAAGACAAATCACAAAGTCCGGATACCAGGTCCTGATTTCTTCGGAAGTACTCTCTTTCTTCTCCATACACCCAAAGCACAACTGCACACAAGGCCCAACTGATGCTGCTGACTGATCAAACCACCACCCTCCCTCAAACAAAACAACACATTTCCACGACAAGACTGGAAACGTGACTCACAATTCCATTTGCACAAACTCCAATTCCACTAAATCTTATTCCATCCAAAGGTATGTACAGCTGGAAGTGAGCATTTCAGAAATAGAAACCTTTCTCTTGGGGCTTCACTCAAAACCAGAACAACACATTCCAAACACTAACCAACTGGGAACTAAGGCTAAGAAAAAGTCCCATGGGATTTGAAGACATTAGGTAGGTCCCTGCTATAAGGGCCTTGCAGTACATTCAGCATCCTCTGGGACGGAGGGCTCACATCTCTCTTCCTTACCCTGGATCCCCAGTGCCTGGCACAAAGCATGACATGCAGCAGGTGCTCAGGGAACACTGCTGCACAGTAAGGTGACCCCTTCATCATCTCAGATACATCCCAACACCACAAGAGAATCACTCACATCCTTGACTACAGGGTAAAAATAAGAATTTTCAACAGGAGAGGTGCAGTTCTAGAGCACTGTGCCAAGAGAAACGTACAGCCTCTCCTGCCCTGTTTTTGGATGTTCATACTTTTCAATCTGTGGAGTAAATTCAGCTGGGAACAGCTGGTAAGCTACTCCAGAAACCACCACTTTCTGACTTCTTCCAGTTCCAGAATTATAGTCAATAGAGGGACAAGGAGAAGGAAAGTTTTCATCCAAGAGAAGCAGGACAGCATTGCTGGATTTTGTTTGAGCCCTGTGACAAGCTTCTAATATACCTACGATTTTAACCCATTCCCGTACTGCCCAATCTGAGTAGACTCAGGTGTTCGCTTGGCCGACTTCCCAAACTGGATCACACTGGCAGCATCACCTGAAAGGGCAGACACAAGAGAAAGTGAAAAGTTTGCATTTCTTTCCCAGGGTCCTCAAAGTCAAAGGTCTGAGCCTTGTTAAATCCAAGCAGGGGTGTGTATCTGCTGAAAACCTCTCTCCAAGGAAATTCACCACCATGAAGCACATGGAGGCACAGCTTTGCCTGGCCTGTTGGTACCTCTATCACTGTGACCTATGTTCTATTCCCAGAATGTGGTAAGACAGCTAGCAGAGGCATCTGTAGGTCCAGCTCGAGAATGTTGTGCAAGCTGATAAATACAACGCCAAGAGACAGGTAATCTGATTGACTTAAGATTGCCTTTCAGATCCTATCTCCCATGTTAGGACAAGACCTGGCAAATACATTAGTAGAATTAAGCCTGAGATGTTGCAACAGACTTCTTACTCCCCAGGTGGATCTTCTAGACATAACATTGGAGGCAACAGAAAAACAAGTTCACACAATAAGTATTTTGTAAAAATGGTTACATCGCACCCCCCCACCCCCCAAAACAATAATCTCATCACTTACTTGGATCCATTCCTGCTCCATCATCCAAAAAGCAAAGCATAAATCCTCCTCGAAGGTCCTCTCGTCTTTCTGTAAAAGAAGCAGCTGCCATTACTGGGCCGTTACCCACCACAGGGTGGCAACATGCCTATGATCAGAAGGCAGATCAATGTGAAGCTTGGTCCAAAAAGGTCAGGTCAAGCCTAAACTTTCTACGCTGGTGTGAATTAAACTTCAGGGTCCTTGAGGTTGCAAATTCCCATCCAAGGTTCTCCAATGTTTTCTAGATCATGACAAAGCTTGGGAGAACCTTTGAAGGCAGGAATATCTGGTCCAGCATCTAATCATACCCACTACCACTGAATATGCACATACCTCACACATATCTCAATCATCCTATCCTTCTGCTCACTCCACCTGGATTACTATCACTTCTGCCCTATGCCATAGACCCCAAGCACTAAAGTACTCCAACTACCACACACTGTACTTTATCAATACTGCTCAAACTCAACAGGATGCCTCCTTTGTGAATTAAGTCTGGGGTATCCTTCAAAGTGATGAAACCAGACATGGTATGGGCACAGCAGTGGAAGCTGCTATCTAAAAGATGAAGTACTGTGTCTATACATGACCATCCCTAGGCTGACTGGCATTCTGGGCTATCTGCATTTACTGTCATATCCCCTGCTAGCTATGGTCCTTGAAAGGGCTCCCCATCCCAACAGTGAGAAGGCACATGGTACAACGTGGAGGTGCCTTGTTCCTAGCTGGACCTGCCTGATGGGAAGAAGGAATGGTCCTTTGACAATAAGATGCACAGCAGCTGTGGTGGGGTTTCCTGGCCAACAGAAAAGGAACACAACAAACTACGGCTGCCATTCTAGTGAAAAGAACGTCTTCTCTCAGCAGTTGTCTTCTGCAGCAGAAAGTGGTTAACTGAAAGTGGTCTGGGTCCAAGCATGTCATGGTCAATGGAGAAGCGATTCCCAAATATGGAAACAGGCTATACTAGCTTCCAAGGTGCCTTTTGACCCAATGATGAGGACTAGGTGAGCAAAAGAGAAACCAGCCTTGGAATCAAGGAAGTTGGTAGACACAAAGAAGAGAAGGATGTAAGGCAGAGGTATAGGGAGGAGACCCACACAAGCCAAGCAAGCCAACTTCCCATATAGATGCTATTCAGTCTACTGACTGGCACAGGGATAAAGGTAGCATTTCTAAGAGGAAAGAGGTCTGTGTAAGGTATTACAAGGGCAAGCCCAAGGCTGCTCTGCAGCCTGGTCCCTGATGATTTCGGAATCTCCCCCAAGCTTCAGTTAACCAATTTTGTACAACTATCTAAGCTGAGAAATCTGTTTTAAATGCTCTTTGTCCTTTCTTCAGGCTAAAAATTCAAGTGAGTAGGGACTGCCCTCTGTCAAATAGACTTATTAATGTAAATTAAAATGCTATTTTTTTTTTTTTTGAAATGGAGTCTCACTCTGTCGCCCAGGCTGGA
TCAAAGCATGCCCTTGCCCTAATTTGGCAAAAACTCTCACTTTGTGCCTCTATCTTCCTTCTGTCTTTGATTCTGACTTTAGCCTTTGAATAGCAAAAGCCCCAAATATCACTTCTCTAACTGGCTTCCTTGCTTCTCAGCCCTATTCTCCCCACAAATCACCTTCTCCTGAAACTTATTCAACTTCTGAATTGGTTTCAAGATGATTTTACTGTCTACTCTGAACACTAGATGGCTCCATCTCAATGGGACCTTCACAAAAGTCTTCCACTGAAATACGCTAATAACACTCTCAACTTCTATACGCTTTCCTTCCCAGTCTGCTAACCACTTTCAGAGTCACATTTCATTTGCTTCTGAACCTCACTCTATAAATGTCAGAGATTAGAACCCCATTTTCTAGAGTAAGAAACAGACATTCAGGGAGGTGAAATGGCTTGCCTGAGGCCATTAAGAAACAGACATTCAGAGAGGTGAAATGGCTTGCCTGAGGCCACAGAACTGACAGAACCAGGTAGGAGGAGGCTGATCTACAATCTAGATGAAAAGTCAGGGCTTCCCCTGATTCTAGGAGACTTCAGTTTTGGGGGATTTAGATAACCTGCATTAGAATCATATGATTACAGGTGATTCATTTCATCTGTGAAAAACACATTCCTAGCCCCTACCCAGATCCACTGAATCAGGCCAGCAATCTGCCATGGAAACATCAAAGGAGGAGAAATAAAGGCAGAAACCAGGCTCTCACAGCAATGATAGCATGTAATTCTTAACCTACTTGGTATGCATTATCATCTCAATTTACAAAGGAGGAAGCTGAGGCTTAGAGACGTAGTAGCGGAAGTGAGATTTGAACCTTAGCTTGTCATTTAAGTGAAATGCACAGCAGCTCCATTTTGCAGTCAGAAAGACCTGGTTCCTACCCTAGCGCTCTACACATAGGCATTTTTAATGCCTTTGGGAAAGTAACTTCACCCTTATAAACCTCAATTTCTTCATCTGAAAATAATAGTACCTACAACCTCACAGGGCTATCATGAGGATTAAATGAGATTATTCGTGTGCCTGGCACATGGTAAGTGTCTGTTATTACCATTTGGTTCCTGCCCTGAAAGACAAATCACAAAGTCCGGATACCAGGTCCTGATTTCTTCGGAAGTACTCTCTTTCTTCTCCATACACCCAAAGCACAACTGCACACAAGGCCCAACTGATGCTGCTGACTGATCAAACCACCACCCTCCCTCAAACAAAACAACACATTTCCACGACAAGACTGGAAACGTGACTCACAATTCCATTTGCACAAACTCCAATTCCACTAAATCTTATTCCATCCAAAGGTATGTACAGCTGGAAGTGAGCATTTCAGAAATAGAAACCTTTCTCTTGGGGCTTCACTCAAAACCAGAACAACACATTCCAAACACTAACCAACTGGGAACTAAGGCTAAGAAAAAGTCCCATGGGATTTGAAGACATTAGGTAGGTCCCTGCTATAAGGGCCTTGCAGTACATTCAGCATCCTCTGGGACGGAGGGCTCACATCTCTCTTCCTTACCCTGGATCCCCAGTGCCTGGCACAAAGCATGACATGCAGCAGGTGCTCAGGGAACACTGCTGCACAGTAAGGTGACCCCTTCATCATCTCAGATACATCCCAACACCACAAGAGAATCACTCACATCCTTGACTACAGGGTAAAAATAAGAATTTTCAACAGGAGAGGTGCAGTTCTAGAGCACTGTGCCAAGAGAAACGTACAGCCTCTCCTGCCCTGTTTTTGGATGTTCATACTTTTCAATCTGTGGAGTAAATTCAGCTGGGAACAGCTGGTAAGCTACTCCAGAAACCACCACTTTCTGACTTCTTCCAGTTCCAGAATTATAGTCAATAGAGGGACAAGGAGAAGGAAAGTTTTCATCCAAGAGAAGCAGGACAGCATTGCTGGATTTTGTTTGAGCCCTGTGACAAGCTTCTAATATACCTACGATTTTAACCCATTCCCGTACTGCCCAATCTGAGTAGACTCAGGTGTTCGCTTGGCCAACTTCCCAAACTGGATCACACTGGCAGCATCACCTGAAAGGGCAGACACAAGAGAAAGTGAAAAGTTTGCATTTCTTTCCCAGGGTCCTCAAAGTCAAAGGTCTGAGCCTTGTTAAATCCAAGCAGGGGTGTGTATCTGCTGAAAACCTCTCTCCAAGGAAATTCACCACCATGAAGCACATGGAGGCACAGCTTTGCCTGGCCTGTTGGTACCTCTATCACTGTGACCTATGTTCTATTCCCAGAATGTGGTAAGACAGCTAGCAGAGGCATCTGTAGGTCCAGCTCGAGAATGTTGTGCAAGCTGATAAATACAACGCCAAGAGACAGGTAATCTGATTGACTTAAGATTGCCTTTCAGATCCTATCTCCCATGTTAGGACAAGACCTGGCAAATACATTAGTAGAATTAAGCCTGAGATGTTGCAACAGACTTCTTACTCCCCAGGTGGATCTTCTAGACATAACATTGGAGGCAACAGAAAAACAAGTTCACACAATAAGTATTTTGTAAAAATGGTTACATCGCACCCCCCCACCCCCCAAAACAATAATCTCATCACTTACTTGGATCCATTCCTGCTCCATCATCCAAAAAGCAAAGCATAAATCCTCCTCGAAGGTCCTCTCGTCTTTCTGTAAAAGAAGCAGCTGCCATTACTGGGCCGTTACCCACCACAGGGTGGCAACATGCCTATGATCAGAAGGCAGATCAATGTGAAGCTTGGTCCAAAAAGGTCAGGTCAAGCCTAAACTTTCTACGCTGGTGTGAATTAAACTTCAGGGTCCTTGAGGTTGCAAATTCCCATCCAAGGTTCTCCAATGTTTTCTAGATCATGACAAAGCTTGGGAGAACCTTTGAAGGCAGGAATATCTGGTCCAGCATCTAATCATACCCACTACCACTGAATATGCACATACCTCACACATATCTCAATCATCCTATCCTTCTGCTCACTCCACCTGGATTACTATCACTTCTGCCCTATGCCATAGACCCCAAGCACTAAAGTACTCCAACTACCACACACTGTACTTTATCAATACTGCTCAAACTCAACAGGATGCCTCCTTTGTGAATTAAGTCTGGGGTATCCTTCAAAGTGATGAAACCAGACATGGTATGGGCACAGCAGTGGAAGCTGCTATCTAAAAGATGAAGTACTGTGTCTATACATGACCATCCCTAGGCTGACTGGCATTCTGGGCTATCTGCATTTACTGTCATATCCCCTGCTAGCTATGGTCCTTGAAAGGGCTCCCCATCCCAACAGTGAGAAGGCACATGGTACAACGTGGAGGTGCCTTGTTCCTAGCTGGACCTGCCTGATGGGAAGAAGGAATGGTCCTTTGACAATAAGATGCACAGCAGCTGTGGTGGGGTTTCCTGGCCAACAGAAAAGGAACACAACAAACTACGGCTGCCATTCTAGTGAAAAGAACGTCTTCTCTCAGCAGTTGTCTTCTGCAGCAGAAAGTGGTTAACTGAAAGTGGTCTGGGTCCAAGCATGTCATGGTCAATGGAGAAGCGATTCCCAAATATGGAAACAGGCTATACTAGCTTCCAAGGTGCCTTTTGACCCAATGATGAGGACTAGGTGAGCAAAAGAGAAACCAGCCTTGGAATCAAGGAAGTTGGTAGACACAAAGAAGAGAAGGATGTAAGGCAGAGGTATAGGGAGGAGACCCACACAAGCCAAGCAAGCCAACTTCCCATATAGATGCTATTCAGTCTACTGACTGGCACAGGGATAAAGGTAGCATTTCTAAGAGGAAAGAGGTCTGTGTAAGGTATTACAAGGGCAAGCCCAAGGCTGCTCTGCAGCCTGGTCCCTGATGATTTCGGAATCTCCCCCAAGCTTCAGTTAACCAATTTTGTACAACTATCTAAGCTGAGAAATCTGTTTTAAATGCTCTTTGTCCTTTCTTCAGGCTAAAAATTCAAGTGAGTAGGGACTGCCCTCTGTCAAATAGACTTATTAATGTAAATTAAAATGCTATTTTTTTTTTTTTTGAAATGGAGTCTCACTCTGTCGCCCAGGCTGGA
Task1_train_28710
The following genetic variant occurs in MORC2 (MORC family CW-type zinc finger 2) on Chromosome 22. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Charcot-Marie-Tooth disease axonal type 2Z
TCAAAGCATGCCCTTGCCCTAATTTGGCAAAAACTCTCACTTTGTGCCTCTATCTTCCTTCTGTCTTTGATTCTGACTTTAGCCTTTGAATAGCAAAAGCCCCAAATATCACTTCTCTAACTGGCTTCCTTGCTTCTCAGCCCTATTCTCCCCACAAATCACCTTCTCCTGAAACTTATTCAACTTCTGAATTGGTTTCAAGATGATTTTACTGTCTACTCTGAACACTAGATGGCTCCATCTCAATGGGACCTTCACAAAAGTCTTCCACTGAAATACGCTAATAACACTCTCAACTTCTATACGCTTTCCTTCCCAGTCTGCTAACCACTTTCAGAGTCACATTTCATTTGCTTCTGAACCTCACTCTATAAATGTCAGAGATTAGAACCCCATTTTCTAGAGTAAGAAACAGACATTCAGGGAGGTGAAATGGCTTGCCTGAGGCCATTAAGAAACAGACATTCAGAGAGGTGAAATGGCTTGCCTGAGGCCACAGAACTGACAGAACCAGGTAGGAGGAGGCTGATCTACAATCTAGATGAAAAGTCAGGGCTTCCCCTGATTCTAGGAGACTTCAGTTTTGGGGGATTTAGATAACCTGCATTAGAATCATATGATTACAGGTGATTCATTTCATCTGTGAAAAACACATTCCTAGCCCCTACCCAGATCCACTGAATCAGGCCAGCAATCTGCCATGGAAACATCAAAGGAGGAGAAATAAAGGCAGAAACCAGGCTCTCACAGCAATGATAGCATGTAATTCTTAACCTACTTGGTATGCATTATCATCTCAATTTACAAAGGAGGAAGCTGAGGCTTAGAGACGTAGTAGCGGAAGTGAGATTTGAACCTTAGCTTGTCATTTAAGTGAAATGCACAGCAGCTCCATTTTGCAGTCAGAAAGACCTGGTTCCTACCCTAGCGCTCTACACATAGGCATTTTTAATGCCTTTGGGAAAGTAACTTCACCCTTATAAACCTCAATTTCTTCATCTGAAAATAATAGTACCTACAACCTCACAGGGCTATCATGAGGATTAAATGAGATTATTCGTGTGCCTGGCACATGGTAAGTGTCTGTTATTACCATTTGGTTCCTGCCCTGAAAGACAAATCACAAAGTCCGGATACCAGGTCCTGATTTCTTCGGAAGTACTCTCTTTCTTCTCCATACACCCAAAGCACAACTGCACACAAGGCCCAACTGATGCTGCTGACTGATCAAACCACCACCCTCCCTCAAACAAAACAACACATTTCCACGACAAGACTGGAAACGTGACTCACAATTCCATTTGCACAAACTCCAATTCCACTAAATCTTATTCCATCCAAAGGTATGTACAGCTGGAAGTGAGCATTTCAGAAATAGAAACCTTTCTCTTGGGGCTTCACTCAAAACCAGAACAACACATTCCAAACACTAACCAACTGGGAACTAAGGCTAAGAAAAAGTCCCATGGGATTTGAAGACATTAGGTAGGTCCCTGCTATAAGGGCCTTGCAGTACATTCAGCATCCTCTGGGACGGAGGGCTCACATCTCTCTTCCTTACCCTGGATCCCCAGTGCCTGGCACAAAGCATGACATGCAGCAGGTGCTCAGGGAACACTGCTGCACAGTAAGGTGACCCCTTCATCATCTCAGATACATCCCAACACCACAAGAGAATCACTCACATCCTTGACTACAGGGTAAAAATAAGAATTTTCAACAGGAGAGGTGCAGTTCTAGAGCACTGTGCCAAGAGAAACGTACAGCCTCTCCTGCCCTGTTTTTGGATGTTCATACTTTTCAATCTGTGGAGTAAATTCAGCTGGGAACAGCTGGTAAGCTACTCCAGAAACCACCACTTTCTGACTTCTTCCAGTTCCAGAATTATAGTCAATAGAGGGACAAGGAGAAGGAAAGTTTTCATCCAAGAGAAGCAGGACAGCATTGCTGGATTTTGTTTGAGCCCTGTGACAAGCTTCTAATATACCTACGATTTTAACCCATTCCCGTACTGCCCAATCTGAGTAGACTCAGGTGTTCGCTTGGCCGACTTCCCAAACTGGATCACACTGGCAGCATCACCTGAAAGGGCAGACACAAGAGAAAGTGAAAAGTTTGCATTTCTTTCCCAGGGTCCTCAAAGTCAAAGGTCTGAGCCTTGTTAAATCCAAGCAGGGGTGTGTATCTGCTGAAAACCTCTCTCCAAGGAAATTCACCACCATGAAGCACATGGAGGCACAGCTTTGCCTGGCCTGTTGGTACCTCTATCACTGTGACCTATGTTCTATTCCCAGAATGTGGTAAGACAGCTAGCAGAGGCATCTGTAGGTCCAGCTCGAGAATGTTGTGCAAGCTGATAAATACAACGCCAAGAGACAGGTAATCTGATTGACTTAAGATTGCCTTTCAGATCCTATCTCCCATGTTAGGACAAGACCTGGCAAATACATTAGTAGAATTAAGCCTGAGATGTTGCAACAGACTTCTTACTCCCCAGGTGGATCTTCTAGACATAACATTGGAGGCAACAGAAAAACAAGTTCACACAATAAGTATTTTGTAAAAATGGTTACATCGCACCCCCCCACCCCCCAAAACAATAATCTCATCACTTACTTGGATCCATTCCTGCTCCATCATCCAAAAAGCAAAGCATAAATCCTCCTCGAAGGTCCTCTCGTCTTTCTGTAAAAGAAGCAGCTGCCATTACTGGGCCGTTACCCACCACAGGGTGGCAACATGCCTATGATCAGAAGGCAGATCAATGTGAAGCTTGGTCCAAAAAGGTCAGGTCAAGCCTAAACTTTCTACGCTGGTGTGAATTAAACTTCAGGGTCCTTGAGGTTGCAAATTCCCATCCAAGGTTCTCCAATGTTTTCTAGATCATGACAAAGCTTGGGAGAACCTTTGAAGGCAGGAATATCTGGTCCAGCATCTAATCATACCCACTACCACTGAATATGCACATACCTCACACATATCTCAATCATCCTATCCTTCTGCTCACTCCACCTGGATTACTATCACTTCTGCCCTATGCCATAGACCCCAAGCACTAAAGTACTCCAACTACCACACACTGTACTTTATCAATACTGCTCAAACTCAACAGGATGCCTCCTTTGTGAATTAAGTCTGGGGTATCCTTCAAAGTGATGAAACCAGACATGGTATGGGCACAGCAGTGGAAGCTGCTATCTAAAAGATGAAGTACTGTGTCTATACATGACCATCCCTAGGCTGACTGGCATTCTGGGCTATCTGCATTTACTGTCATATCCCCTGCTAGCTATGGTCCTTGAAAGGGCTCCCCATCCCAACAGTGAGAAGGCACATGGTACAACGTGGAGGTGCCTTGTTCCTAGCTGGACCTGCCTGATGGGAAGAAGGAATGGTCCTTTGACAATAAGATGCACAGCAGCTGTGGTGGGGTTTCCTGGCCAACAGAAAAGGAACACAACAAACTACGGCTGCCATTCTAGTGAAAAGAACGTCTTCTCTCAGCAGTTGTCTTCTGCAGCAGAAAGTGGTTAACTGAAAGTGGTCTGGGTCCAAGCATGTCATGGTCAATGGAGAAGCGATTCCCAAATATGGAAACAGGCTATACTAGCTTCCAAGGTGCCTTTTGACCCAATGATGAGGACTAGGTGAGCAAAAGAGAAACCAGCCTTGGAATCAAGGAAGTTGGTAGACACAAAGAAGAGAAGGATGTAAGGCAGAGGTATAGGGAGGAGACCCACACAAGCCAAGCAAGCCAACTTCCCATATAGATGCTATTCAGTCTACTGACTGGCACAGGGATAAAGGTAGCATTTCTAAGAGGAAAGAGGTCTGTGTAAGGTATTACAAGGGCAAGCCCAAGGCTGCTCTGCAGCCTGGTCCCTGATGATTTCGGAATCTCCCCCAAGCTTCAGTTAACCAATTTTGTACAACTATCTAAGCTGAGAAATCTGTTTTAAATGCTCTTTGTCCTTTCTTCAGGCTAAAAATTCAAGTGAGTAGGGACTGCCCTCTGTCAAATAGACTTATTAATGTAAATTAAAATGCTATTTTTTTTTTTTTTGAAATGGAGTCTCACTCTGTCGCCCAGGCTGGA
TCAAAGCATGCCCTTGCCCTAATTTGGCAAAAACTCTCACTTTGTGCCTCTATCTTCCTTCTGTCTTTGATTCTGACTTTAGCCTTTGAATAGCAAAAGCCCCAAATATCACTTCTCTAACTGGCTTCCTTGCTTCTCAGCCCTATTCTCCCCACAAATCACCTTCTCCTGAAACTTATTCAACTTCTGAATTGGTTTCAAGATGATTTTACTGTCTACTCTGAACACTAGATGGCTCCATCTCAATGGGACCTTCACAAAAGTCTTCCACTGAAATACGCTAATAACACTCTCAACTTCTATACGCTTTCCTTCCCAGTCTGCTAACCACTTTCAGAGTCACATTTCATTTGCTTCTGAACCTCACTCTATAAATGTCAGAGATTAGAACCCCATTTTCTAGAGTAAGAAACAGACATTCAGGGAGGTGAAATGGCTTGCCTGAGGCCATTAAGAAACAGACATTCAGAGAGGTGAAATGGCTTGCCTGAGGCCACAGAACTGACAGAACCAGGTAGGAGGAGGCTGATCTACAATCTAGATGAAAAGTCAGGGCTTCCCCTGATTCTAGGAGACTTCAGTTTTGGGGGATTTAGATAACCTGCATTAGAATCATATGATTACAGGTGATTCATTTCATCTGTGAAAAACACATTCCTAGCCCCTACCCAGATCCACTGAATCAGGCCAGCAATCTGCCATGGAAACATCAAAGGAGGAGAAATAAAGGCAGAAACCAGGCTCTCACAGCAATGATAGCATGTAATTCTTAACCTACTTGGTATGCATTATCATCTCAATTTACAAAGGAGGAAGCTGAGGCTTAGAGACGTAGTAGCGGAAGTGAGATTTGAACCTTAGCTTGTCATTTAAGTGAAATGCACAGCAGCTCCATTTTGCAGTCAGAAAGACCTGGTTCCTACCCTAGCGCTCTACACATAGGCATTTTTAATGCCTTTGGGAAAGTAACTTCACCCTTATAAACCTCAATTTCTTCATCTGAAAATAATAGTACCTACAACCTCACAGGGCTATCATGAGGATTAAATGAGATTATTCGTGTGCCTGGCACATGGTAAGTGTCTGTTATTACCATTTGGTTCCTGCCCTGAAAGACAAATCACAAAGTCCGGATACCAGGTCCTGATTTCTTCGGAAGTACTCTCTTTCTTCTCCATACACCCAAAGCACAACTGCACACAAGGCCCAACTGATGCTGCTGACTGATCAAACCACCACCCTCCCTCAAACAAAACAACACATTTCCACGACAAGACTGGAAACGTGACTCACAATTCCATTTGCACAAACTCCAATTCCACTAAATCTTATTCCATCCAAAGGTATGTACAGCTGGAAGTGAGCATTTCAGAAATAGAAACCTTTCTCTTGGGGCTTCACTCAAAACCAGAACAACACATTCCAAACACTAACCAACTGGGAACTAAGGCTAAGAAAAAGTCCCATGGGATTTGAAGACATTAGGTAGGTCCCTGCTATAAGGGCCTTGCAGTACATTCAGCATCCTCTGGGACGGAGGGCTCACATCTCTCTTCCTTACCCTGGATCCCCAGTGCCTGGCACAAAGCATGACATGCAGCAGGTGCTCAGGGAACACTGCTGCACAGTAAGGTGACCCCTTCATCATCTCAGATACATCCCAACACCACAAGAGAATCACTCACATCCTTGACTACAGGGTAAAAATAAGAATTTTCAACAGGAGAGGTGCAGTTCTAGAGCACTGTGCCAAGAGAAACGTACAGCCTCTCCTGCCCTGTTTTTGGATGTTCATACTTTTCAATCTGTGGAGTAAATTCAGCTGGGAACAGCTGGTAAGCTACTCCAGAAACCACCACTTTCTGACTTCTTCCAGTTCCAGAATTATAGTCAATAGAGGGACAAGGAGAAGGAAAGTTTTCATCCAAGAGAAGCAGGACAGCATTGCTGGATTTTGTTTGAGCCCTGTGACAAGCTTCTAATATACCTACGATTTTAACCCATTCCCGTACTGCCCAATCTGAGTAGACTCAGGTGTTCGCTTGGCCAACTTCCCAAACTGGATCACACTGGCAGCATCACCTGAAAGGGCAGACACAAGAGAAAGTGAAAAGTTTGCATTTCTTTCCCAGGGTCCTCAAAGTCAAAGGTCTGAGCCTTGTTAAATCCAAGCAGGGGTGTGTATCTGCTGAAAACCTCTCTCCAAGGAAATTCACCACCATGAAGCACATGGAGGCACAGCTTTGCCTGGCCTGTTGGTACCTCTATCACTGTGACCTATGTTCTATTCCCAGAATGTGGTAAGACAGCTAGCAGAGGCATCTGTAGGTCCAGCTCGAGAATGTTGTGCAAGCTGATAAATACAACGCCAAGAGACAGGTAATCTGATTGACTTAAGATTGCCTTTCAGATCCTATCTCCCATGTTAGGACAAGACCTGGCAAATACATTAGTAGAATTAAGCCTGAGATGTTGCAACAGACTTCTTACTCCCCAGGTGGATCTTCTAGACATAACATTGGAGGCAACAGAAAAACAAGTTCACACAATAAGTATTTTGTAAAAATGGTTACATCGCACCCCCCCACCCCCCAAAACAATAATCTCATCACTTACTTGGATCCATTCCTGCTCCATCATCCAAAAAGCAAAGCATAAATCCTCCTCGAAGGTCCTCTCGTCTTTCTGTAAAAGAAGCAGCTGCCATTACTGGGCCGTTACCCACCACAGGGTGGCAACATGCCTATGATCAGAAGGCAGATCAATGTGAAGCTTGGTCCAAAAAGGTCAGGTCAAGCCTAAACTTTCTACGCTGGTGTGAATTAAACTTCAGGGTCCTTGAGGTTGCAAATTCCCATCCAAGGTTCTCCAATGTTTTCTAGATCATGACAAAGCTTGGGAGAACCTTTGAAGGCAGGAATATCTGGTCCAGCATCTAATCATACCCACTACCACTGAATATGCACATACCTCACACATATCTCAATCATCCTATCCTTCTGCTCACTCCACCTGGATTACTATCACTTCTGCCCTATGCCATAGACCCCAAGCACTAAAGTACTCCAACTACCACACACTGTACTTTATCAATACTGCTCAAACTCAACAGGATGCCTCCTTTGTGAATTAAGTCTGGGGTATCCTTCAAAGTGATGAAACCAGACATGGTATGGGCACAGCAGTGGAAGCTGCTATCTAAAAGATGAAGTACTGTGTCTATACATGACCATCCCTAGGCTGACTGGCATTCTGGGCTATCTGCATTTACTGTCATATCCCCTGCTAGCTATGGTCCTTGAAAGGGCTCCCCATCCCAACAGTGAGAAGGCACATGGTACAACGTGGAGGTGCCTTGTTCCTAGCTGGACCTGCCTGATGGGAAGAAGGAATGGTCCTTTGACAATAAGATGCACAGCAGCTGTGGTGGGGTTTCCTGGCCAACAGAAAAGGAACACAACAAACTACGGCTGCCATTCTAGTGAAAAGAACGTCTTCTCTCAGCAGTTGTCTTCTGCAGCAGAAAGTGGTTAACTGAAAGTGGTCTGGGTCCAAGCATGTCATGGTCAATGGAGAAGCGATTCCCAAATATGGAAACAGGCTATACTAGCTTCCAAGGTGCCTTTTGACCCAATGATGAGGACTAGGTGAGCAAAAGAGAAACCAGCCTTGGAATCAAGGAAGTTGGTAGACACAAAGAAGAGAAGGATGTAAGGCAGAGGTATAGGGAGGAGACCCACACAAGCCAAGCAAGCCAACTTCCCATATAGATGCTATTCAGTCTACTGACTGGCACAGGGATAAAGGTAGCATTTCTAAGAGGAAAGAGGTCTGTGTAAGGTATTACAAGGGCAAGCCCAAGGCTGCTCTGCAGCCTGGTCCCTGATGATTTCGGAATCTCCCCCAAGCTTCAGTTAACCAATTTTGTACAACTATCTAAGCTGAGAAATCTGTTTTAAATGCTCTTTGTCCTTTCTTCAGGCTAAAAATTCAAGTGAGTAGGGACTGCCCTCTGTCAAATAGACTTATTAATGTAAATTAAAATGCTATTTTTTTTTTTTTTGAAATGGAGTCTCACTCTGTCGCCCAGGCTGGA
Task1_train_28711
The gene MORC2 (MORC family CW-type zinc finger 2) on Chromosome 22 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
TCAAAGCATGCCCTTGCCCTAATTTGGCAAAAACTCTCACTTTGTGCCTCTATCTTCCTTCTGTCTTTGATTCTGACTTTAGCCTTTGAATAGCAAAAGCCCCAAATATCACTTCTCTAACTGGCTTCCTTGCTTCTCAGCCCTATTCTCCCCACAAATCACCTTCTCCTGAAACTTATTCAACTTCTGAATTGGTTTCAAGATGATTTTACTGTCTACTCTGAACACTAGATGGCTCCATCTCAATGGGACCTTCACAAAAGTCTTCCACTGAAATACGCTAATAACACTCTCAACTTCTATACGCTTTCCTTCCCAGTCTGCTAACCACTTTCAGAGTCACATTTCATTTGCTTCTGAACCTCACTCTATAAATGTCAGAGATTAGAACCCCATTTTCTAGAGTAAGAAACAGACATTCAGGGAGGTGAAATGGCTTGCCTGAGGCCATTAAGAAACAGACATTCAGAGAGGTGAAATGGCTTGCCTGAGGCCACAGAACTGACAGAACCAGGTAGGAGGAGGCTGATCTACAATCTAGATGAAAAGTCAGGGCTTCCCCTGATTCTAGGAGACTTCAGTTTTGGGGGATTTAGATAACCTGCATTAGAATCATATGATTACAGGTGATTCATTTCATCTGTGAAAAACACATTCCTAGCCCCTACCCAGATCCACTGAATCAGGCCAGCAATCTGCCATGGAAACATCAAAGGAGGAGAAATAAAGGCAGAAACCAGGCTCTCACAGCAATGATAGCATGTAATTCTTAACCTACTTGGTATGCATTATCATCTCAATTTACAAAGGAGGAAGCTGAGGCTTAGAGACGTAGTAGCGGAAGTGAGATTTGAACCTTAGCTTGTCATTTAAGTGAAATGCACAGCAGCTCCATTTTGCAGTCAGAAAGACCTGGTTCCTACCCTAGCGCTCTACACATAGGCATTTTTAATGCCTTTGGGAAAGTAACTTCACCCTTATAAACCTCAATTTCTTCATCTGAAAATAATAGTACCTACAACCTCACAGGGCTATCATGAGGATTAAATGAGATTATTCGTGTGCCTGGCACATGGTAAGTGTCTGTTATTACCATTTGGTTCCTGCCCTGAAAGACAAATCACAAAGTCCGGATACCAGGTCCTGATTTCTTCGGAAGTACTCTCTTTCTTCTCCATACACCCAAAGCACAACTGCACACAAGGCCCAACTGATGCTGCTGACTGATCAAACCACCACCCTCCCTCAAACAAAACAACACATTTCCACGACAAGACTGGAAACGTGACTCACAATTCCATTTGCACAAACTCCAATTCCACTAAATCTTATTCCATCCAAAGGTATGTACAGCTGGAAGTGAGCATTTCAGAAATAGAAACCTTTCTCTTGGGGCTTCACTCAAAACCAGAACAACACATTCCAAACACTAACCAACTGGGAACTAAGGCTAAGAAAAAGTCCCATGGGATTTGAAGACATTAGGTAGGTCCCTGCTATAAGGGCCTTGCAGTACATTCAGCATCCTCTGGGACGGAGGGCTCACATCTCTCTTCCTTACCCTGGATCCCCAGTGCCTGGCACAAAGCATGACATGCAGCAGGTGCTCAGGGAACACTGCTGCACAGTAAGGTGACCCCTTCATCATCTCAGATACATCCCAACACCACAAGAGAATCACTCACATCCTTGACTACAGGGTAAAAATAAGAATTTTCAACAGGAGAGGTGCAGTTCTAGAGCACTGTGCCAAGAGAAACGTACAGCCTCTCCTGCCCTGTTTTTGGATGTTCATACTTTTCAATCTGTGGAGTAAATTCAGCTGGGAACAGCTGGTAAGCTACTCCAGAAACCACCACTTTCTGACTTCTTCCAGTTCCAGAATTATAGTCAATAGAGGGACAAGGAGAAGGAAAGTTTTCATCCAAGAGAAGCAGGACAGCATTGCTGGATTTTGTTTGAGCCCTGTGACAAGCTTCTAATATACCTACGATTTTAACCCATTCCCGTACTGCCCAATCTGAGTAGACTCAGGTGTTCGCTTGGCCGACTTCCCAAACTGGATCACACTGGCAGCATCACCTGAAAGGGCAGACACAAGAGAAAGTGAAAAGTTTGCATTTCTTTCCCAGGGTCCTCAAAGTCAAAGGTCTGAGCCTTGTTAAATCCAAGCAGGGGTGTGTATCTGCTGAAAACCTCTCTCCAAGGAAATTCACCACCATGAAGCACATGGAGGCACAGCTTTGCCTGGCCTGTTGGTACCTCTATCACTGTGACCTATGTTCTATTCCCAGAATGTGGTAAGACAGCTAGCAGAGGCATCTGTAGGTCCAGCTCGAGAATGTTGTGCAAGCTGATAAATACAACGCCAAGAGACAGGTAATCTGATTGACTTAAGATTGCCTTTCAGATCCTATCTCCCATGTTAGGACAAGACCTGGCAAATACATTAGTAGAATTAAGCCTGAGATGTTGCAACAGACTTCTTACTCCCCAGGTGGATCTTCTAGACATAACATTGGAGGCAACAGAAAAACAAGTTCACACAATAAGTATTTTGTAAAAATGGTTACATCGCACCCCCCCACCCCCCAAAACAATAATCTCATCACTTACTTGGATCCATTCCTGCTCCATCATCCAAAAAGCAAAGCATAAATCCTCCTCGAAGGTCCTCTCGTCTTTCTGTAAAAGAAGCAGCTGCCATTACTGGGCCGTTACCCACCACAGGGTGGCAACATGCCTATGATCAGAAGGCAGATCAATGTGAAGCTTGGTCCAAAAAGGTCAGGTCAAGCCTAAACTTTCTACGCTGGTGTGAATTAAACTTCAGGGTCCTTGAGGTTGCAAATTCCCATCCAAGGTTCTCCAATGTTTTCTAGATCATGACAAAGCTTGGGAGAACCTTTGAAGGCAGGAATATCTGGTCCAGCATCTAATCATACCCACTACCACTGAATATGCACATACCTCACACATATCTCAATCATCCTATCCTTCTGCTCACTCCACCTGGATTACTATCACTTCTGCCCTATGCCATAGACCCCAAGCACTAAAGTACTCCAACTACCACACACTGTACTTTATCAATACTGCTCAAACTCAACAGGATGCCTCCTTTGTGAATTAAGTCTGGGGTATCCTTCAAAGTGATGAAACCAGACATGGTATGGGCACAGCAGTGGAAGCTGCTATCTAAAAGATGAAGTACTGTGTCTATACATGACCATCCCTAGGCTGACTGGCATTCTGGGCTATCTGCATTTACTGTCATATCCCCTGCTAGCTATGGTCCTTGAAAGGGCTCCCCATCCCAACAGTGAGAAGGCACATGGTACAACGTGGAGGTGCCTTGTTCCTAGCTGGACCTGCCTGATGGGAAGAAGGAATGGTCCTTTGACAATAAGATGCACAGCAGCTGTGGTGGGGTTTCCTGGCCAACAGAAAAGGAACACAACAAACTACGGCTGCCATTCTAGTGAAAAGAACGTCTTCTCTCAGCAGTTGTCTTCTGCAGCAGAAAGTGGTTAACTGAAAGTGGTCTGGGTCCAAGCATGTCATGGTCAATGGAGAAGCGATTCCCAAATATGGAAACAGGCTATACTAGCTTCCAAGGTGCCTTTTGACCCAATGATGAGGACTAGGTGAGCAAAAGAGAAACCAGCCTTGGAATCAAGGAAGTTGGTAGACACAAAGAAGAGAAGGATGTAAGGCAGAGGTATAGGGAGGAGACCCACACAAGCCAAGCAAGCCAACTTCCCATATAGATGCTATTCAGTCTACTGACTGGCACAGGGATAAAGGTAGCATTTCTAAGAGGAAAGAGGTCTGTGTAAGGTATTACAAGGGCAAGCCCAAGGCTGCTCTGCAGCCTGGTCCCTGATGATTTCGGAATCTCCCCCAAGCTTCAGTTAACCAATTTTGTACAACTATCTAAGCTGAGAAATCTGTTTTAAATGCTCTTTGTCCTTTCTTCAGGCTAAAAATTCAAGTGAGTAGGGACTGCCCTCTGTCAAATAGACTTATTAATGTAAATTAAAATGCTATTTTTTTTTTTTTTGAAATGGAGTCTCACTCTGTCGCCCAGGCTGGA
TCAAAGCATGCCCTTGCCCTAATTTGGCAAAAACTCTCACTTTGTGCCTCTATCTTCCTTCTGTCTTTGATTCTGACTTTAGCCTTTGAATAGCAAAAGCCCCAAATATCACTTCTCTAACTGGCTTCCTTGCTTCTCAGCCCTATTCTCCCCACAAATCACCTTCTCCTGAAACTTATTCAACTTCTGAATTGGTTTCAAGATGATTTTACTGTCTACTCTGAACACTAGATGGCTCCATCTCAATGGGACCTTCACAAAAGTCTTCCACTGAAATACGCTAATAACACTCTCAACTTCTATACGCTTTCCTTCCCAGTCTGCTAACCACTTTCAGAGTCACATTTCATTTGCTTCTGAACCTCACTCTATAAATGTCAGAGATTAGAACCCCATTTTCTAGAGTAAGAAACAGACATTCAGGGAGGTGAAATGGCTTGCCTGAGGCCATTAAGAAACAGACATTCAGAGAGGTGAAATGGCTTGCCTGAGGCCACAGAACTGACAGAACCAGGTAGGAGGAGGCTGATCTACAATCTAGATGAAAAGTCAGGGCTTCCCCTGATTCTAGGAGACTTCAGTTTTGGGGGATTTAGATAACCTGCATTAGAATCATATGATTACAGGTGATTCATTTCATCTGTGAAAAACACATTCCTAGCCCCTACCCAGATCCACTGAATCAGGCCAGCAATCTGCCATGGAAACATCAAAGGAGGAGAAATAAAGGCAGAAACCAGGCTCTCACAGCAATGATAGCATGTAATTCTTAACCTACTTGGTATGCATTATCATCTCAATTTACAAAGGAGGAAGCTGAGGCTTAGAGACGTAGTAGCGGAAGTGAGATTTGAACCTTAGCTTGTCATTTAAGTGAAATGCACAGCAGCTCCATTTTGCAGTCAGAAAGACCTGGTTCCTACCCTAGCGCTCTACACATAGGCATTTTTAATGCCTTTGGGAAAGTAACTTCACCCTTATAAACCTCAATTTCTTCATCTGAAAATAATAGTACCTACAACCTCACAGGGCTATCATGAGGATTAAATGAGATTATTCGTGTGCCTGGCACATGGTAAGTGTCTGTTATTACCATTTGGTTCCTGCCCTGAAAGACAAATCACAAAGTCCGGATACCAGGTCCTGATTTCTTCGGAAGTACTCTCTTTCTTCTCCATACACCCAAAGCACAACTGCACACAAGGCCCAACTGATGCTGCTGACTGATCAAACCACCACCCTCCCTCAAACAAAACAACACATTTCCACGACAAGACTGGAAACGTGACTCACAATTCCATTTGCACAAACTCCAATTCCACTAAATCTTATTCCATCCAAAGGTATGTACAGCTGGAAGTGAGCATTTCAGAAATAGAAACCTTTCTCTTGGGGCTTCACTCAAAACCAGAACAACACATTCCAAACACTAACCAACTGGGAACTAAGGCTAAGAAAAAGTCCCATGGGATTTGAAGACATTAGGTAGGTCCCTGCTATAAGGGCCTTGCAGTACATTCAGCATCCTCTGGGACGGAGGGCTCACATCTCTCTTCCTTACCCTGGATCCCCAGTGCCTGGCACAAAGCATGACATGCAGCAGGTGCTCAGGGAACACTGCTGCACAGTAAGGTGACCCCTTCATCATCTCAGATACATCCCAACACCACAAGAGAATCACTCACATCCTTGACTACAGGGTAAAAATAAGAATTTTCAACAGGAGAGGTGCAGTTCTAGAGCACTGTGCCAAGAGAAACGTACAGCCTCTCCTGCCCTGTTTTTGGATGTTCATACTTTTCAATCTGTGGAGTAAATTCAGCTGGGAACAGCTGGTAAGCTACTCCAGAAACCACCACTTTCTGACTTCTTCCAGTTCCAGAATTATAGTCAATAGAGGGACAAGGAGAAGGAAAGTTTTCATCCAAGAGAAGCAGGACAGCATTGCTGGATTTTGTTTGAGCCCTGTGACAAGCTTCTAATATACCTACGATTTTAACCCATTCCCGTACTGCCCAATCTGAGTAGACTCAGGTGTTCGCTTGGCCAACTTCCCAAACTGGATCACACTGGCAGCATCACCTGAAAGGGCAGACACAAGAGAAAGTGAAAAGTTTGCATTTCTTTCCCAGGGTCCTCAAAGTCAAAGGTCTGAGCCTTGTTAAATCCAAGCAGGGGTGTGTATCTGCTGAAAACCTCTCTCCAAGGAAATTCACCACCATGAAGCACATGGAGGCACAGCTTTGCCTGGCCTGTTGGTACCTCTATCACTGTGACCTATGTTCTATTCCCAGAATGTGGTAAGACAGCTAGCAGAGGCATCTGTAGGTCCAGCTCGAGAATGTTGTGCAAGCTGATAAATACAACGCCAAGAGACAGGTAATCTGATTGACTTAAGATTGCCTTTCAGATCCTATCTCCCATGTTAGGACAAGACCTGGCAAATACATTAGTAGAATTAAGCCTGAGATGTTGCAACAGACTTCTTACTCCCCAGGTGGATCTTCTAGACATAACATTGGAGGCAACAGAAAAACAAGTTCACACAATAAGTATTTTGTAAAAATGGTTACATCGCACCCCCCCACCCCCCAAAACAATAATCTCATCACTTACTTGGATCCATTCCTGCTCCATCATCCAAAAAGCAAAGCATAAATCCTCCTCGAAGGTCCTCTCGTCTTTCTGTAAAAGAAGCAGCTGCCATTACTGGGCCGTTACCCACCACAGGGTGGCAACATGCCTATGATCAGAAGGCAGATCAATGTGAAGCTTGGTCCAAAAAGGTCAGGTCAAGCCTAAACTTTCTACGCTGGTGTGAATTAAACTTCAGGGTCCTTGAGGTTGCAAATTCCCATCCAAGGTTCTCCAATGTTTTCTAGATCATGACAAAGCTTGGGAGAACCTTTGAAGGCAGGAATATCTGGTCCAGCATCTAATCATACCCACTACCACTGAATATGCACATACCTCACACATATCTCAATCATCCTATCCTTCTGCTCACTCCACCTGGATTACTATCACTTCTGCCCTATGCCATAGACCCCAAGCACTAAAGTACTCCAACTACCACACACTGTACTTTATCAATACTGCTCAAACTCAACAGGATGCCTCCTTTGTGAATTAAGTCTGGGGTATCCTTCAAAGTGATGAAACCAGACATGGTATGGGCACAGCAGTGGAAGCTGCTATCTAAAAGATGAAGTACTGTGTCTATACATGACCATCCCTAGGCTGACTGGCATTCTGGGCTATCTGCATTTACTGTCATATCCCCTGCTAGCTATGGTCCTTGAAAGGGCTCCCCATCCCAACAGTGAGAAGGCACATGGTACAACGTGGAGGTGCCTTGTTCCTAGCTGGACCTGCCTGATGGGAAGAAGGAATGGTCCTTTGACAATAAGATGCACAGCAGCTGTGGTGGGGTTTCCTGGCCAACAGAAAAGGAACACAACAAACTACGGCTGCCATTCTAGTGAAAAGAACGTCTTCTCTCAGCAGTTGTCTTCTGCAGCAGAAAGTGGTTAACTGAAAGTGGTCTGGGTCCAAGCATGTCATGGTCAATGGAGAAGCGATTCCCAAATATGGAAACAGGCTATACTAGCTTCCAAGGTGCCTTTTGACCCAATGATGAGGACTAGGTGAGCAAAAGAGAAACCAGCCTTGGAATCAAGGAAGTTGGTAGACACAAAGAAGAGAAGGATGTAAGGCAGAGGTATAGGGAGGAGACCCACACAAGCCAAGCAAGCCAACTTCCCATATAGATGCTATTCAGTCTACTGACTGGCACAGGGATAAAGGTAGCATTTCTAAGAGGAAAGAGGTCTGTGTAAGGTATTACAAGGGCAAGCCCAAGGCTGCTCTGCAGCCTGGTCCCTGATGATTTCGGAATCTCCCCCAAGCTTCAGTTAACCAATTTTGTACAACTATCTAAGCTGAGAAATCTGTTTTAAATGCTCTTTGTCCTTTCTTCAGGCTAAAAATTCAAGTGAGTAGGGACTGCCCTCTGTCAAATAGACTTATTAATGTAAATTAAAATGCTATTTTTTTTTTTTTTGAAATGGAGTCTCACTCTGTCGCCCAGGCTGGA
Task1_train_28712
This variant affects gene MORC2 (MORC family CW-type zinc finger 2) located on Chromosome 22. Evaluate its biological effect and specify any disease association.
Pathogenic; Global developmental delay
TCAAAGCATGCCCTTGCCCTAATTTGGCAAAAACTCTCACTTTGTGCCTCTATCTTCCTTCTGTCTTTGATTCTGACTTTAGCCTTTGAATAGCAAAAGCCCCAAATATCACTTCTCTAACTGGCTTCCTTGCTTCTCAGCCCTATTCTCCCCACAAATCACCTTCTCCTGAAACTTATTCAACTTCTGAATTGGTTTCAAGATGATTTTACTGTCTACTCTGAACACTAGATGGCTCCATCTCAATGGGACCTTCACAAAAGTCTTCCACTGAAATACGCTAATAACACTCTCAACTTCTATACGCTTTCCTTCCCAGTCTGCTAACCACTTTCAGAGTCACATTTCATTTGCTTCTGAACCTCACTCTATAAATGTCAGAGATTAGAACCCCATTTTCTAGAGTAAGAAACAGACATTCAGGGAGGTGAAATGGCTTGCCTGAGGCCATTAAGAAACAGACATTCAGAGAGGTGAAATGGCTTGCCTGAGGCCACAGAACTGACAGAACCAGGTAGGAGGAGGCTGATCTACAATCTAGATGAAAAGTCAGGGCTTCCCCTGATTCTAGGAGACTTCAGTTTTGGGGGATTTAGATAACCTGCATTAGAATCATATGATTACAGGTGATTCATTTCATCTGTGAAAAACACATTCCTAGCCCCTACCCAGATCCACTGAATCAGGCCAGCAATCTGCCATGGAAACATCAAAGGAGGAGAAATAAAGGCAGAAACCAGGCTCTCACAGCAATGATAGCATGTAATTCTTAACCTACTTGGTATGCATTATCATCTCAATTTACAAAGGAGGAAGCTGAGGCTTAGAGACGTAGTAGCGGAAGTGAGATTTGAACCTTAGCTTGTCATTTAAGTGAAATGCACAGCAGCTCCATTTTGCAGTCAGAAAGACCTGGTTCCTACCCTAGCGCTCTACACATAGGCATTTTTAATGCCTTTGGGAAAGTAACTTCACCCTTATAAACCTCAATTTCTTCATCTGAAAATAATAGTACCTACAACCTCACAGGGCTATCATGAGGATTAAATGAGATTATTCGTGTGCCTGGCACATGGTAAGTGTCTGTTATTACCATTTGGTTCCTGCCCTGAAAGACAAATCACAAAGTCCGGATACCAGGTCCTGATTTCTTCGGAAGTACTCTCTTTCTTCTCCATACACCCAAAGCACAACTGCACACAAGGCCCAACTGATGCTGCTGACTGATCAAACCACCACCCTCCCTCAAACAAAACAACACATTTCCACGACAAGACTGGAAACGTGACTCACAATTCCATTTGCACAAACTCCAATTCCACTAAATCTTATTCCATCCAAAGGTATGTACAGCTGGAAGTGAGCATTTCAGAAATAGAAACCTTTCTCTTGGGGCTTCACTCAAAACCAGAACAACACATTCCAAACACTAACCAACTGGGAACTAAGGCTAAGAAAAAGTCCCATGGGATTTGAAGACATTAGGTAGGTCCCTGCTATAAGGGCCTTGCAGTACATTCAGCATCCTCTGGGACGGAGGGCTCACATCTCTCTTCCTTACCCTGGATCCCCAGTGCCTGGCACAAAGCATGACATGCAGCAGGTGCTCAGGGAACACTGCTGCACAGTAAGGTGACCCCTTCATCATCTCAGATACATCCCAACACCACAAGAGAATCACTCACATCCTTGACTACAGGGTAAAAATAAGAATTTTCAACAGGAGAGGTGCAGTTCTAGAGCACTGTGCCAAGAGAAACGTACAGCCTCTCCTGCCCTGTTTTTGGATGTTCATACTTTTCAATCTGTGGAGTAAATTCAGCTGGGAACAGCTGGTAAGCTACTCCAGAAACCACCACTTTCTGACTTCTTCCAGTTCCAGAATTATAGTCAATAGAGGGACAAGGAGAAGGAAAGTTTTCATCCAAGAGAAGCAGGACAGCATTGCTGGATTTTGTTTGAGCCCTGTGACAAGCTTCTAATATACCTACGATTTTAACCCATTCCCGTACTGCCCAATCTGAGTAGACTCAGGTGTTCGCTTGGCCGACTTCCCAAACTGGATCACACTGGCAGCATCACCTGAAAGGGCAGACACAAGAGAAAGTGAAAAGTTTGCATTTCTTTCCCAGGGTCCTCAAAGTCAAAGGTCTGAGCCTTGTTAAATCCAAGCAGGGGTGTGTATCTGCTGAAAACCTCTCTCCAAGGAAATTCACCACCATGAAGCACATGGAGGCACAGCTTTGCCTGGCCTGTTGGTACCTCTATCACTGTGACCTATGTTCTATTCCCAGAATGTGGTAAGACAGCTAGCAGAGGCATCTGTAGGTCCAGCTCGAGAATGTTGTGCAAGCTGATAAATACAACGCCAAGAGACAGGTAATCTGATTGACTTAAGATTGCCTTTCAGATCCTATCTCCCATGTTAGGACAAGACCTGGCAAATACATTAGTAGAATTAAGCCTGAGATGTTGCAACAGACTTCTTACTCCCCAGGTGGATCTTCTAGACATAACATTGGAGGCAACAGAAAAACAAGTTCACACAATAAGTATTTTGTAAAAATGGTTACATCGCACCCCCCCACCCCCCAAAACAATAATCTCATCACTTACTTGGATCCATTCCTGCTCCATCATCCAAAAAGCAAAGCATAAATCCTCCTCGAAGGTCCTCTCGTCTTTCTGTAAAAGAAGCAGCTGCCATTACTGGGCCGTTACCCACCACAGGGTGGCAACATGCCTATGATCAGAAGGCAGATCAATGTGAAGCTTGGTCCAAAAAGGTCAGGTCAAGCCTAAACTTTCTACGCTGGTGTGAATTAAACTTCAGGGTCCTTGAGGTTGCAAATTCCCATCCAAGGTTCTCCAATGTTTTCTAGATCATGACAAAGCTTGGGAGAACCTTTGAAGGCAGGAATATCTGGTCCAGCATCTAATCATACCCACTACCACTGAATATGCACATACCTCACACATATCTCAATCATCCTATCCTTCTGCTCACTCCACCTGGATTACTATCACTTCTGCCCTATGCCATAGACCCCAAGCACTAAAGTACTCCAACTACCACACACTGTACTTTATCAATACTGCTCAAACTCAACAGGATGCCTCCTTTGTGAATTAAGTCTGGGGTATCCTTCAAAGTGATGAAACCAGACATGGTATGGGCACAGCAGTGGAAGCTGCTATCTAAAAGATGAAGTACTGTGTCTATACATGACCATCCCTAGGCTGACTGGCATTCTGGGCTATCTGCATTTACTGTCATATCCCCTGCTAGCTATGGTCCTTGAAAGGGCTCCCCATCCCAACAGTGAGAAGGCACATGGTACAACGTGGAGGTGCCTTGTTCCTAGCTGGACCTGCCTGATGGGAAGAAGGAATGGTCCTTTGACAATAAGATGCACAGCAGCTGTGGTGGGGTTTCCTGGCCAACAGAAAAGGAACACAACAAACTACGGCTGCCATTCTAGTGAAAAGAACGTCTTCTCTCAGCAGTTGTCTTCTGCAGCAGAAAGTGGTTAACTGAAAGTGGTCTGGGTCCAAGCATGTCATGGTCAATGGAGAAGCGATTCCCAAATATGGAAACAGGCTATACTAGCTTCCAAGGTGCCTTTTGACCCAATGATGAGGACTAGGTGAGCAAAAGAGAAACCAGCCTTGGAATCAAGGAAGTTGGTAGACACAAAGAAGAGAAGGATGTAAGGCAGAGGTATAGGGAGGAGACCCACACAAGCCAAGCAAGCCAACTTCCCATATAGATGCTATTCAGTCTACTGACTGGCACAGGGATAAAGGTAGCATTTCTAAGAGGAAAGAGGTCTGTGTAAGGTATTACAAGGGCAAGCCCAAGGCTGCTCTGCAGCCTGGTCCCTGATGATTTCGGAATCTCCCCCAAGCTTCAGTTAACCAATTTTGTACAACTATCTAAGCTGAGAAATCTGTTTTAAATGCTCTTTGTCCTTTCTTCAGGCTAAAAATTCAAGTGAGTAGGGACTGCCCTCTGTCAAATAGACTTATTAATGTAAATTAAAATGCTATTTTTTTTTTTTTTGAAATGGAGTCTCACTCTGTCGCCCAGGCTGGA
TCAAAGCATGCCCTTGCCCTAATTTGGCAAAAACTCTCACTTTGTGCCTCTATCTTCCTTCTGTCTTTGATTCTGACTTTAGCCTTTGAATAGCAAAAGCCCCAAATATCACTTCTCTAACTGGCTTCCTTGCTTCTCAGCCCTATTCTCCCCACAAATCACCTTCTCCTGAAACTTATTCAACTTCTGAATTGGTTTCAAGATGATTTTACTGTCTACTCTGAACACTAGATGGCTCCATCTCAATGGGACCTTCACAAAAGTCTTCCACTGAAATACGCTAATAACACTCTCAACTTCTATACGCTTTCCTTCCCAGTCTGCTAACCACTTTCAGAGTCACATTTCATTTGCTTCTGAACCTCACTCTATAAATGTCAGAGATTAGAACCCCATTTTCTAGAGTAAGAAACAGACATTCAGGGAGGTGAAATGGCTTGCCTGAGGCCATTAAGAAACAGACATTCAGAGAGGTGAAATGGCTTGCCTGAGGCCACAGAACTGACAGAACCAGGTAGGAGGAGGCTGATCTACAATCTAGATGAAAAGTCAGGGCTTCCCCTGATTCTAGGAGACTTCAGTTTTGGGGGATTTAGATAACCTGCATTAGAATCATATGATTACAGGTGATTCATTTCATCTGTGAAAAACACATTCCTAGCCCCTACCCAGATCCACTGAATCAGGCCAGCAATCTGCCATGGAAACATCAAAGGAGGAGAAATAAAGGCAGAAACCAGGCTCTCACAGCAATGATAGCATGTAATTCTTAACCTACTTGGTATGCATTATCATCTCAATTTACAAAGGAGGAAGCTGAGGCTTAGAGACGTAGTAGCGGAAGTGAGATTTGAACCTTAGCTTGTCATTTAAGTGAAATGCACAGCAGCTCCATTTTGCAGTCAGAAAGACCTGGTTCCTACCCTAGCGCTCTACACATAGGCATTTTTAATGCCTTTGGGAAAGTAACTTCACCCTTATAAACCTCAATTTCTTCATCTGAAAATAATAGTACCTACAACCTCACAGGGCTATCATGAGGATTAAATGAGATTATTCGTGTGCCTGGCACATGGTAAGTGTCTGTTATTACCATTTGGTTCCTGCCCTGAAAGACAAATCACAAAGTCCGGATACCAGGTCCTGATTTCTTCGGAAGTACTCTCTTTCTTCTCCATACACCCAAAGCACAACTGCACACAAGGCCCAACTGATGCTGCTGACTGATCAAACCACCACCCTCCCTCAAACAAAACAACACATTTCCACGACAAGACTGGAAACGTGACTCACAATTCCATTTGCACAAACTCCAATTCCACTAAATCTTATTCCATCCAAAGGTATGTACAGCTGGAAGTGAGCATTTCAGAAATAGAAACCTTTCTCTTGGGGCTTCACTCAAAACCAGAACAACACATTCCAAACACTAACCAACTGGGAACTAAGGCTAAGAAAAAGTCCCATGGGATTTGAAGACATTAGGTAGGTCCCTGCTATAAGGGCCTTGCAGTACATTCAGCATCCTCTGGGACGGAGGGCTCACATCTCTCTTCCTTACCCTGGATCCCCAGTGCCTGGCACAAAGCATGACATGCAGCAGGTGCTCAGGGAACACTGCTGCACAGTAAGGTGACCCCTTCATCATCTCAGATACATCCCAACACCACAAGAGAATCACTCACATCCTTGACTACAGGGTAAAAATAAGAATTTTCAACAGGAGAGGTGCAGTTCTAGAGCACTGTGCCAAGAGAAACGTACAGCCTCTCCTGCCCTGTTTTTGGATGTTCATACTTTTCAATCTGTGGAGTAAATTCAGCTGGGAACAGCTGGTAAGCTACTCCAGAAACCACCACTTTCTGACTTCTTCCAGTTCCAGAATTATAGTCAATAGAGGGACAAGGAGAAGGAAAGTTTTCATCCAAGAGAAGCAGGACAGCATTGCTGGATTTTGTTTGAGCCCTGTGACAAGCTTCTAATATACCTACGATTTTAACCCATTCCCGTACTGCCCAATCTGAGTAGACTCAGGTGTTCGCTTGGCCAACTTCCCAAACTGGATCACACTGGCAGCATCACCTGAAAGGGCAGACACAAGAGAAAGTGAAAAGTTTGCATTTCTTTCCCAGGGTCCTCAAAGTCAAAGGTCTGAGCCTTGTTAAATCCAAGCAGGGGTGTGTATCTGCTGAAAACCTCTCTCCAAGGAAATTCACCACCATGAAGCACATGGAGGCACAGCTTTGCCTGGCCTGTTGGTACCTCTATCACTGTGACCTATGTTCTATTCCCAGAATGTGGTAAGACAGCTAGCAGAGGCATCTGTAGGTCCAGCTCGAGAATGTTGTGCAAGCTGATAAATACAACGCCAAGAGACAGGTAATCTGATTGACTTAAGATTGCCTTTCAGATCCTATCTCCCATGTTAGGACAAGACCTGGCAAATACATTAGTAGAATTAAGCCTGAGATGTTGCAACAGACTTCTTACTCCCCAGGTGGATCTTCTAGACATAACATTGGAGGCAACAGAAAAACAAGTTCACACAATAAGTATTTTGTAAAAATGGTTACATCGCACCCCCCCACCCCCCAAAACAATAATCTCATCACTTACTTGGATCCATTCCTGCTCCATCATCCAAAAAGCAAAGCATAAATCCTCCTCGAAGGTCCTCTCGTCTTTCTGTAAAAGAAGCAGCTGCCATTACTGGGCCGTTACCCACCACAGGGTGGCAACATGCCTATGATCAGAAGGCAGATCAATGTGAAGCTTGGTCCAAAAAGGTCAGGTCAAGCCTAAACTTTCTACGCTGGTGTGAATTAAACTTCAGGGTCCTTGAGGTTGCAAATTCCCATCCAAGGTTCTCCAATGTTTTCTAGATCATGACAAAGCTTGGGAGAACCTTTGAAGGCAGGAATATCTGGTCCAGCATCTAATCATACCCACTACCACTGAATATGCACATACCTCACACATATCTCAATCATCCTATCCTTCTGCTCACTCCACCTGGATTACTATCACTTCTGCCCTATGCCATAGACCCCAAGCACTAAAGTACTCCAACTACCACACACTGTACTTTATCAATACTGCTCAAACTCAACAGGATGCCTCCTTTGTGAATTAAGTCTGGGGTATCCTTCAAAGTGATGAAACCAGACATGGTATGGGCACAGCAGTGGAAGCTGCTATCTAAAAGATGAAGTACTGTGTCTATACATGACCATCCCTAGGCTGACTGGCATTCTGGGCTATCTGCATTTACTGTCATATCCCCTGCTAGCTATGGTCCTTGAAAGGGCTCCCCATCCCAACAGTGAGAAGGCACATGGTACAACGTGGAGGTGCCTTGTTCCTAGCTGGACCTGCCTGATGGGAAGAAGGAATGGTCCTTTGACAATAAGATGCACAGCAGCTGTGGTGGGGTTTCCTGGCCAACAGAAAAGGAACACAACAAACTACGGCTGCCATTCTAGTGAAAAGAACGTCTTCTCTCAGCAGTTGTCTTCTGCAGCAGAAAGTGGTTAACTGAAAGTGGTCTGGGTCCAAGCATGTCATGGTCAATGGAGAAGCGATTCCCAAATATGGAAACAGGCTATACTAGCTTCCAAGGTGCCTTTTGACCCAATGATGAGGACTAGGTGAGCAAAAGAGAAACCAGCCTTGGAATCAAGGAAGTTGGTAGACACAAAGAAGAGAAGGATGTAAGGCAGAGGTATAGGGAGGAGACCCACACAAGCCAAGCAAGCCAACTTCCCATATAGATGCTATTCAGTCTACTGACTGGCACAGGGATAAAGGTAGCATTTCTAAGAGGAAAGAGGTCTGTGTAAGGTATTACAAGGGCAAGCCCAAGGCTGCTCTGCAGCCTGGTCCCTGATGATTTCGGAATCTCCCCCAAGCTTCAGTTAACCAATTTTGTACAACTATCTAAGCTGAGAAATCTGTTTTAAATGCTCTTTGTCCTTTCTTCAGGCTAAAAATTCAAGTGAGTAGGGACTGCCCTCTGTCAAATAGACTTATTAATGTAAATTAAAATGCTATTTTTTTTTTTTTTGAAATGGAGTCTCACTCTGTCGCCCAGGCTGGA
Task1_train_28713
A mutation on Chromosome 22 affecting MORC2 (MORC family CW-type zinc finger 2) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Inborn genetic diseases
GACCTGGAATAATCATGCCATCTTCCCAGGCTCCCGAATCCAGTTATTTCCCACTCAATTCTTCTTAGGCACAGTAATAAATGCATTAAGATGAACTAGACATTAGAAGGACTAAAGCCTGACTTACCTGCATAAATATCTATTCTGGTGGCATCAGCATCTCTGCAAAGTGAAAAGAAAAGAATCATGTGAATTAATATGAAATATCAACCATCAAAATGCATAGTGATTTGAGTAGAATGCAGAGTATTTTGAGTCTGTTTTCAGGAAGCCATACAGAAATTCTATAGACATTTAGAATTTTTTTTACTTTTATACTTGACAACACAATTTTCTTTATATATCTGTAAAACATTTCTGAAGCCCCAAATTATTGAAGATGATCACATGACATGGGGCCTGGATATTTTTTTTAAATCCTGATTTTGTGGTAAAAACATCTATAGGATAAGCAAGAATATTTCCCTTTATACCCTAAGAAATGATTCAAATATGTTTTTCTCACTCATTTGATTGCAATCATAAAAAGATGTTCCAATAACTTGTCCACTTTTTCTTCTCGTCAATATTTTAAGAAAAAAGGAAGACAATAATCTCCCACAAAACCTGTGAAAAATCACTTCTCGTGGTATACACACTGCAGTCAGCAGACTGATTCCTGAGCCCATAATCTTAACCTCCCTAAACCTGAAAGGAAGTTGGGATACCCCTGCCCCATTAGACTCCAACCATTGGCTGAAATCATACAGATTCAGTTATCAATGAAGACTTCCATAAAGGCTCAGAAGTAATTTAGTCCAATTCTGCCAACTGCAAAGAAAATGAAACCGTTTCACTGGTTTTACATGCAAAAAATCCACACAGCTCTACATATACCTATTCTCAAATATCTAAAACATTTTCAAATATGAGAGATACTGGCAAAATGTATACACAAGTAGGAATACATACTCCTAAGAATCTCTATTTTACCATATGATACACAAAAAAAGCAGCCTGCCACCGCACATCATGGTCTCACTAAATTAACAAGTGGCAAATTCAAACACAGTTCCATTAACCTACAACACTTTTTAATTGAATGGAAAAATGATGAGTCAACCAGGATTGAAACAAAACAGGAGTTTTCTGGTTAAACAACTAGCACACTTCCATGAGCAGTCCAGCTAATAACAACAACAAAAGTAATTAGAATAAGTTTATTGTATACACAGAGGTAAAGAGGAAATTATCAGCGAGCACATTAACTGGAGATCTGTTTGAAAGTACTTCCGCTGTCAATTTTCATCCTCCTCTTCCTTCCTTAGTCATCAAAACCTAGTCAGTAAATGTGTCTGAATTTTATGTTTGCATTCAGGAATAAGACTAAGACACTATTTTCCTAATTATAAACAGAATCTTGATATGGACTTGGATTTACATCAGAACTAACCCAAACTTCTATTCAGTCTTACACAGTAACATTTACATGTTTCTATCACTAAGAACTCAGTATAAGACAGTGCTGACCAATGATTCCTTCCAAGCACAGCTGCTAACAATGAAAGACACTGTGATCATTTAGTTATCTGACAAATATACAATTTGAGAAGACACAGAACTTTGGCATAGTTTTAAAGACATTAGATGGTGTACTATCCTGCTAGCACAAATTAAATCAGAGCCTGCCTGTCTCATTAATATGATTCCTAAGTGTCTATCTTAATTCCTTGCATTTTACTACAATTATCTTGCTCTAATACACAAGGGAAGTGGTTTTGGAGGTGATAACTCACTATTTTTAGGCTAGAACACAAAGAACAATTAGTGAATTTAAGTAAGAAAGTGGAAGTTATCAACTAATGTGCTATTAAAAATATTATTTTTAGTAAGAGGCATCCTAGGAGTTACAGAATGTCTACATTCTACAGAAATGTCTTCCTCTCAAGTCTTCAGAGAGCAAAGGTCACAGCTACCTAAAGTGTTTCCACTTCAAGCACAGATTGTATGCCTGAAGACTACATACCTTGCATTATCAACCAGTTCAGCAAGGGCACCAAACAAGAATTCGTGAGTGGTTCTGAAATGATAAATACTAAAAGTCAGCAAAAGAATTATTGAAGTTATAATTCCTAATAAAAAGCCATGGTTATAAAATATTTAAGTTTTTTGAAAAAAATCTTAAAACCACCATTTGCATTGTTTTTATACTACTCAAGGCTTTCCAGAGCTCCCCAACTCCCCTCAATTGTTAATCTTTAACAAGTCCTGCCATCTATTCAGAAATGATTATTCTTCCTATTTTGAGTTGGGAAACCCACCCTGAAGCATTGAAAGAGTCCTATGTGTAGTAACTGCTAAAAGTGTTTTTCACTATTCATATCCTGCCTAGAAAAATGCCTGTATATTTTATTTTTCATTGCCTTAACCAGTGGTCAGTTTCTGCATATCTCAGAGCAAGAATTTTAAGGATATATCTTATGCATAAATATTGAACTTTGTTTTTTGTTTTTTCTTTGAGACAGGTTCTCATTCTTGTCACTCGGACTGGAGTATAGTAAGTTTTGAATAACATGATAACTGTGTATTTACTCAATCCAAACTTTGAGCAGCCTCCCAGAGGAGATGACCACTGGTTCCCCTCCTTGAAGGGGTTAATGTTAACAGGGGCCCTAGGCAACCACACCAAGCAAGCTCTTGTCATCCTAGAAGGAATTGTTGGAAAAGGTCTTCGATTACTTTCTTTAATGGAGGGAAAGTTCTGGTTTTAGCCAAAATCTGAGAAAGTCATAAAATGAGTTATTCTCTTTACCTTCTCTTTCAAATGGGATATTTTTGCTTATAAATTACACAAAAGTGTATGAGTTTCCTTTCTTCACTGGTAGATGACGCACAAGTATTGGTAAAACAAAATGCTAACAAGTTATACATTGAGCATGTGCAATTTACACTGTTTAATTTGTGCTCTTTTCCACAATAGTCCTCATGAGATATCAAATTAGGATGTGTCCACATAGAACCACCTAAAAAAAAAACACTTGACTTCTGATTAAATACAATATTAACCCACATAATACATGACCATCAATTTTTCAAAAATATCCATGTTACTCTGACTTTTTTGCATAGAGTTTCAGCCAAAGTAAAAAGTTTCAGCCAATTTTCAGTTAAAGTAAGAATTTTTAAATGAAATATATCAATAGTAAATAACCAGCATCTAGGATCTCTGATCGCTTACCATATTGCAAACAAAATGTAAAACATTTATTAAATAAATATCCATAACTAAACTCTCCAGGAATATTGTTTTTTCTTCCTCAAGTAACTCCAAATTTTTACAAATGCAATTTTTTTGTTTTGTTTTGTTTTTGAGACAGAGTTTCGCTCTTGTCGCCCAGGCTGGAGTGCGATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTTGGCCTCCAGAATAGCTGGGATTACAGGCATGCGCCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGAGGAGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGACTCCCAAAGTGCTGAGATTACAGACCTGAGCCACCACACACGGCCTACAAATGCAAATTTTGAATTAAACTATCACTTGGTGGAATTATAGGAAGACCTTTCCCCCAACAAGATCAGTGAATATATGTGCTGCTAATCCAAAGGCAGCACGACAAATATGTTATAACCAAAAGAAATTTTATCATCAATTTACCTAGGAAATAGAGTTCAAATTCTTCTGGGTAAAATCTAATTAATTATACTACAGGGAAAAGACAGATTTATTTATTTATTTATTTATTTTGAGACGGAGTTTTTCCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCCGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGTATTACAAGCATAGGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCAACCTCAGGTGAT
GACCTGGAATAATCATGCCATCTTCCCAGGCTCCCGAATCCAGTTATTTCCCACTCAATTCTTCTTAGGCACAGTAATAAATGCATTAAGATGAACTAGACATTAGAAGGACTAAAGCCTGACTTACCTGCATAAATATCTATTCTGGTGGCATCAGCATCTCTGCAAAGTGAAAAGAAAAGAATCATGTGAATTAATATGAAATATCAACCATCAAAATGCATAGTGATTTGAGTAGAATGCAGAGTATTTTGAGTCTGTTTTCAGGAAGCCATACAGAAATTCTATAGACATTTAGAATTTTTTTTACTTTTATACTTGACAACACAATTTTCTTTATATATCTGTAAAACATTTCTGAAGCCCCAAATTATTGAAGATGATCACATGACATGGGGCCTGGATATTTTTTTTAAATCCTGATTTTGTGGTAAAAACATCTATAGGATAAGCAAGAATATTTCCCTTTATACCCTAAGAAATGATTCAAATATGTTTTTCTCACTCATTTGATTGCAATCATAAAAAGATGTTCCAATAACTTGTCCACTTTTTCTTCTCGTCAATATTTTAAGAAAAAAGGAAGACAATAATCTCCCACAAAACCTGTGAAAAATCACTTCTCGTGGTATACACACTGCAGTCAGCAGACTGATTCCTGAGCCCATAATCTTAACCTCCCTAAACCTGAAAGGAAGTTGGGATACCCCTGCCCCATTAGACTCCAACCATTGGCTGAAATCATACAGATTCAGTTATCAATGAAGACTTCCATAAAGGCTCAGAAGTAATTTAGTCCAATTCTGCCAACTGCAAAGAAAATGAAACCGTTTCACTGGTTTTACATGCAAAAAATCCACACAGCTCTACATATACCTATTCTCAAATATCTAAAACATTTTCAAATATGAGAGATACTGGCAAAATGTATACACAAGTAGGAATACATACTCCTAAGAATCTCTATTTTACCATATGATACACAAAAAAAGCAGCCTGCCACCGCACATCATGGTCTCACTAAATTAACAAGTGGCAAATTCAAACACAGTTCCATTAACCTACAACACTTTTTAATTGAATGGAAAAATGATGAGTCAACCAGGATTGAAACAAAACAGGAGTTTTCTGGTTAAACAACTAGCACACTTCCATGAGCAGTCCAGCTAATAACAACAACAAAAGTAATTAGAATAAGTTTATTGTATACACAGAGGTAAAGAGGAAATTATCAGCGAGCACATTAACTGGAGATCTGTTTGAAAGTACTTCCGCTGTCAATTTTCATCCTCCTCTTCCTTCCTTAGTCATCAAAACCTAGTCAGTAAATGTGTCTGAATTTTATGTTTGCATTCAGGAATAAGACTAAGACACTATTTTCCTAATTATAAACAGAATCTTGATATGGACTTGGATTTACATCAGAACTAACCCAAACTTCTATTCAGTCTTACACAGTAACATTTACATGTTTCTATCACTAAGAACTCAGTATAAGACAGTGCTGACCAATGATTCCTTCCAAGCACAGCTGCTAACAATGAAAGACACTGTGATCATTTAGTTATCTGACAAATATACAATTTGAGAAGACACAGAACTTTGGCATAGTTTTAAAGACATTAGATGGTGTACTATCCTGCTAGCACAAATTAAATCAGAGCCTGCCTGTCTCATTAATATGATTCCTAAGTGTCTATCTTAATTCCTTGCATTTTACTACAATTATCTTGCTCTAATACACAAGGGAAGTGGTTTTGGAGGTGATAACTCACTATTTTTAGGCTAGAACACAAAGAACAATTAGTGAATTTAAGTAAGAAAGTGGAAGTTATCAACTAATGTGCTATTAAAAATATTATTTTTAGTAAGAGGCATCCTAGGAGTTACAGAATGTCTACATTCTACAGAAATGTCTTCCTCTCAAGTCTTCAGAGAGCAAAGGTCACAGCTACCTAAAGTGTTTCCACTTCAAGCACAGATTGTATGCCTGAAGACTACATACCTTGCATTATCAACCAGTTCAGCAAGGGCACCAAACAAGAATTTGTGAGTGGTTCTGAAATGATAAATACTAAAAGTCAGCAAAAGAATTATTGAAGTTATAATTCCTAATAAAAAGCCATGGTTATAAAATATTTAAGTTTTTTGAAAAAAATCTTAAAACCACCATTTGCATTGTTTTTATACTACTCAAGGCTTTCCAGAGCTCCCCAACTCCCCTCAATTGTTAATCTTTAACAAGTCCTGCCATCTATTCAGAAATGATTATTCTTCCTATTTTGAGTTGGGAAACCCACCCTGAAGCATTGAAAGAGTCCTATGTGTAGTAACTGCTAAAAGTGTTTTTCACTATTCATATCCTGCCTAGAAAAATGCCTGTATATTTTATTTTTCATTGCCTTAACCAGTGGTCAGTTTCTGCATATCTCAGAGCAAGAATTTTAAGGATATATCTTATGCATAAATATTGAACTTTGTTTTTTGTTTTTTCTTTGAGACAGGTTCTCATTCTTGTCACTCGGACTGGAGTATAGTAAGTTTTGAATAACATGATAACTGTGTATTTACTCAATCCAAACTTTGAGCAGCCTCCCAGAGGAGATGACCACTGGTTCCCCTCCTTGAAGGGGTTAATGTTAACAGGGGCCCTAGGCAACCACACCAAGCAAGCTCTTGTCATCCTAGAAGGAATTGTTGGAAAAGGTCTTCGATTACTTTCTTTAATGGAGGGAAAGTTCTGGTTTTAGCCAAAATCTGAGAAAGTCATAAAATGAGTTATTCTCTTTACCTTCTCTTTCAAATGGGATATTTTTGCTTATAAATTACACAAAAGTGTATGAGTTTCCTTTCTTCACTGGTAGATGACGCACAAGTATTGGTAAAACAAAATGCTAACAAGTTATACATTGAGCATGTGCAATTTACACTGTTTAATTTGTGCTCTTTTCCACAATAGTCCTCATGAGATATCAAATTAGGATGTGTCCACATAGAACCACCTAAAAAAAAAACACTTGACTTCTGATTAAATACAATATTAACCCACATAATACATGACCATCAATTTTTCAAAAATATCCATGTTACTCTGACTTTTTTGCATAGAGTTTCAGCCAAAGTAAAAAGTTTCAGCCAATTTTCAGTTAAAGTAAGAATTTTTAAATGAAATATATCAATAGTAAATAACCAGCATCTAGGATCTCTGATCGCTTACCATATTGCAAACAAAATGTAAAACATTTATTAAATAAATATCCATAACTAAACTCTCCAGGAATATTGTTTTTTCTTCCTCAAGTAACTCCAAATTTTTACAAATGCAATTTTTTTGTTTTGTTTTGTTTTTGAGACAGAGTTTCGCTCTTGTCGCCCAGGCTGGAGTGCGATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTTGGCCTCCAGAATAGCTGGGATTACAGGCATGCGCCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGAGGAGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGACTCCCAAAGTGCTGAGATTACAGACCTGAGCCACCACACACGGCCTACAAATGCAAATTTTGAATTAAACTATCACTTGGTGGAATTATAGGAAGACCTTTCCCCCAACAAGATCAGTGAATATATGTGCTGCTAATCCAAAGGCAGCACGACAAATATGTTATAACCAAAAGAAATTTTATCATCAATTTACCTAGGAAATAGAGTTCAAATTCTTCTGGGTAAAATCTAATTAATTATACTACAGGGAAAAGACAGATTTATTTATTTATTTATTTATTTTGAGACGGAGTTTTTCCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCCGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGTATTACAAGCATAGGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCAACCTCAGGTGAT
Task1_train_28714
This variant lies on Chromosome 22 and affects the gene MORC2 (MORC family CW-type zinc finger 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Charcot-Marie-Tooth disease axonal type 2Z
GACCTGGAATAATCATGCCATCTTCCCAGGCTCCCGAATCCAGTTATTTCCCACTCAATTCTTCTTAGGCACAGTAATAAATGCATTAAGATGAACTAGACATTAGAAGGACTAAAGCCTGACTTACCTGCATAAATATCTATTCTGGTGGCATCAGCATCTCTGCAAAGTGAAAAGAAAAGAATCATGTGAATTAATATGAAATATCAACCATCAAAATGCATAGTGATTTGAGTAGAATGCAGAGTATTTTGAGTCTGTTTTCAGGAAGCCATACAGAAATTCTATAGACATTTAGAATTTTTTTTACTTTTATACTTGACAACACAATTTTCTTTATATATCTGTAAAACATTTCTGAAGCCCCAAATTATTGAAGATGATCACATGACATGGGGCCTGGATATTTTTTTTAAATCCTGATTTTGTGGTAAAAACATCTATAGGATAAGCAAGAATATTTCCCTTTATACCCTAAGAAATGATTCAAATATGTTTTTCTCACTCATTTGATTGCAATCATAAAAAGATGTTCCAATAACTTGTCCACTTTTTCTTCTCGTCAATATTTTAAGAAAAAAGGAAGACAATAATCTCCCACAAAACCTGTGAAAAATCACTTCTCGTGGTATACACACTGCAGTCAGCAGACTGATTCCTGAGCCCATAATCTTAACCTCCCTAAACCTGAAAGGAAGTTGGGATACCCCTGCCCCATTAGACTCCAACCATTGGCTGAAATCATACAGATTCAGTTATCAATGAAGACTTCCATAAAGGCTCAGAAGTAATTTAGTCCAATTCTGCCAACTGCAAAGAAAATGAAACCGTTTCACTGGTTTTACATGCAAAAAATCCACACAGCTCTACATATACCTATTCTCAAATATCTAAAACATTTTCAAATATGAGAGATACTGGCAAAATGTATACACAAGTAGGAATACATACTCCTAAGAATCTCTATTTTACCATATGATACACAAAAAAAGCAGCCTGCCACCGCACATCATGGTCTCACTAAATTAACAAGTGGCAAATTCAAACACAGTTCCATTAACCTACAACACTTTTTAATTGAATGGAAAAATGATGAGTCAACCAGGATTGAAACAAAACAGGAGTTTTCTGGTTAAACAACTAGCACACTTCCATGAGCAGTCCAGCTAATAACAACAACAAAAGTAATTAGAATAAGTTTATTGTATACACAGAGGTAAAGAGGAAATTATCAGCGAGCACATTAACTGGAGATCTGTTTGAAAGTACTTCCGCTGTCAATTTTCATCCTCCTCTTCCTTCCTTAGTCATCAAAACCTAGTCAGTAAATGTGTCTGAATTTTATGTTTGCATTCAGGAATAAGACTAAGACACTATTTTCCTAATTATAAACAGAATCTTGATATGGACTTGGATTTACATCAGAACTAACCCAAACTTCTATTCAGTCTTACACAGTAACATTTACATGTTTCTATCACTAAGAACTCAGTATAAGACAGTGCTGACCAATGATTCCTTCCAAGCACAGCTGCTAACAATGAAAGACACTGTGATCATTTAGTTATCTGACAAATATACAATTTGAGAAGACACAGAACTTTGGCATAGTTTTAAAGACATTAGATGGTGTACTATCCTGCTAGCACAAATTAAATCAGAGCCTGCCTGTCTCATTAATATGATTCCTAAGTGTCTATCTTAATTCCTTGCATTTTACTACAATTATCTTGCTCTAATACACAAGGGAAGTGGTTTTGGAGGTGATAACTCACTATTTTTAGGCTAGAACACAAAGAACAATTAGTGAATTTAAGTAAGAAAGTGGAAGTTATCAACTAATGTGCTATTAAAAATATTATTTTTAGTAAGAGGCATCCTAGGAGTTACAGAATGTCTACATTCTACAGAAATGTCTTCCTCTCAAGTCTTCAGAGAGCAAAGGTCACAGCTACCTAAAGTGTTTCCACTTCAAGCACAGATTGTATGCCTGAAGACTACATACCTTGCATTATCAACCAGTTCAGCAAGGGCACCAAACAAGAATTCGTGAGTGGTTCTGAAATGATAAATACTAAAAGTCAGCAAAAGAATTATTGAAGTTATAATTCCTAATAAAAAGCCATGGTTATAAAATATTTAAGTTTTTTGAAAAAAATCTTAAAACCACCATTTGCATTGTTTTTATACTACTCAAGGCTTTCCAGAGCTCCCCAACTCCCCTCAATTGTTAATCTTTAACAAGTCCTGCCATCTATTCAGAAATGATTATTCTTCCTATTTTGAGTTGGGAAACCCACCCTGAAGCATTGAAAGAGTCCTATGTGTAGTAACTGCTAAAAGTGTTTTTCACTATTCATATCCTGCCTAGAAAAATGCCTGTATATTTTATTTTTCATTGCCTTAACCAGTGGTCAGTTTCTGCATATCTCAGAGCAAGAATTTTAAGGATATATCTTATGCATAAATATTGAACTTTGTTTTTTGTTTTTTCTTTGAGACAGGTTCTCATTCTTGTCACTCGGACTGGAGTATAGTAAGTTTTGAATAACATGATAACTGTGTATTTACTCAATCCAAACTTTGAGCAGCCTCCCAGAGGAGATGACCACTGGTTCCCCTCCTTGAAGGGGTTAATGTTAACAGGGGCCCTAGGCAACCACACCAAGCAAGCTCTTGTCATCCTAGAAGGAATTGTTGGAAAAGGTCTTCGATTACTTTCTTTAATGGAGGGAAAGTTCTGGTTTTAGCCAAAATCTGAGAAAGTCATAAAATGAGTTATTCTCTTTACCTTCTCTTTCAAATGGGATATTTTTGCTTATAAATTACACAAAAGTGTATGAGTTTCCTTTCTTCACTGGTAGATGACGCACAAGTATTGGTAAAACAAAATGCTAACAAGTTATACATTGAGCATGTGCAATTTACACTGTTTAATTTGTGCTCTTTTCCACAATAGTCCTCATGAGATATCAAATTAGGATGTGTCCACATAGAACCACCTAAAAAAAAAACACTTGACTTCTGATTAAATACAATATTAACCCACATAATACATGACCATCAATTTTTCAAAAATATCCATGTTACTCTGACTTTTTTGCATAGAGTTTCAGCCAAAGTAAAAAGTTTCAGCCAATTTTCAGTTAAAGTAAGAATTTTTAAATGAAATATATCAATAGTAAATAACCAGCATCTAGGATCTCTGATCGCTTACCATATTGCAAACAAAATGTAAAACATTTATTAAATAAATATCCATAACTAAACTCTCCAGGAATATTGTTTTTTCTTCCTCAAGTAACTCCAAATTTTTACAAATGCAATTTTTTTGTTTTGTTTTGTTTTTGAGACAGAGTTTCGCTCTTGTCGCCCAGGCTGGAGTGCGATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTTGGCCTCCAGAATAGCTGGGATTACAGGCATGCGCCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGAGGAGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGACTCCCAAAGTGCTGAGATTACAGACCTGAGCCACCACACACGGCCTACAAATGCAAATTTTGAATTAAACTATCACTTGGTGGAATTATAGGAAGACCTTTCCCCCAACAAGATCAGTGAATATATGTGCTGCTAATCCAAAGGCAGCACGACAAATATGTTATAACCAAAAGAAATTTTATCATCAATTTACCTAGGAAATAGAGTTCAAATTCTTCTGGGTAAAATCTAATTAATTATACTACAGGGAAAAGACAGATTTATTTATTTATTTATTTATTTTGAGACGGAGTTTTTCCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCCGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGTATTACAAGCATAGGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCAACCTCAGGTGAT
GACCTGGAATAATCATGCCATCTTCCCAGGCTCCCGAATCCAGTTATTTCCCACTCAATTCTTCTTAGGCACAGTAATAAATGCATTAAGATGAACTAGACATTAGAAGGACTAAAGCCTGACTTACCTGCATAAATATCTATTCTGGTGGCATCAGCATCTCTGCAAAGTGAAAAGAAAAGAATCATGTGAATTAATATGAAATATCAACCATCAAAATGCATAGTGATTTGAGTAGAATGCAGAGTATTTTGAGTCTGTTTTCAGGAAGCCATACAGAAATTCTATAGACATTTAGAATTTTTTTTACTTTTATACTTGACAACACAATTTTCTTTATATATCTGTAAAACATTTCTGAAGCCCCAAATTATTGAAGATGATCACATGACATGGGGCCTGGATATTTTTTTTAAATCCTGATTTTGTGGTAAAAACATCTATAGGATAAGCAAGAATATTTCCCTTTATACCCTAAGAAATGATTCAAATATGTTTTTCTCACTCATTTGATTGCAATCATAAAAAGATGTTCCAATAACTTGTCCACTTTTTCTTCTCGTCAATATTTTAAGAAAAAAGGAAGACAATAATCTCCCACAAAACCTGTGAAAAATCACTTCTCGTGGTATACACACTGCAGTCAGCAGACTGATTCCTGAGCCCATAATCTTAACCTCCCTAAACCTGAAAGGAAGTTGGGATACCCCTGCCCCATTAGACTCCAACCATTGGCTGAAATCATACAGATTCAGTTATCAATGAAGACTTCCATAAAGGCTCAGAAGTAATTTAGTCCAATTCTGCCAACTGCAAAGAAAATGAAACCGTTTCACTGGTTTTACATGCAAAAAATCCACACAGCTCTACATATACCTATTCTCAAATATCTAAAACATTTTCAAATATGAGAGATACTGGCAAAATGTATACACAAGTAGGAATACATACTCCTAAGAATCTCTATTTTACCATATGATACACAAAAAAAGCAGCCTGCCACCGCACATCATGGTCTCACTAAATTAACAAGTGGCAAATTCAAACACAGTTCCATTAACCTACAACACTTTTTAATTGAATGGAAAAATGATGAGTCAACCAGGATTGAAACAAAACAGGAGTTTTCTGGTTAAACAACTAGCACACTTCCATGAGCAGTCCAGCTAATAACAACAACAAAAGTAATTAGAATAAGTTTATTGTATACACAGAGGTAAAGAGGAAATTATCAGCGAGCACATTAACTGGAGATCTGTTTGAAAGTACTTCCGCTGTCAATTTTCATCCTCCTCTTCCTTCCTTAGTCATCAAAACCTAGTCAGTAAATGTGTCTGAATTTTATGTTTGCATTCAGGAATAAGACTAAGACACTATTTTCCTAATTATAAACAGAATCTTGATATGGACTTGGATTTACATCAGAACTAACCCAAACTTCTATTCAGTCTTACACAGTAACATTTACATGTTTCTATCACTAAGAACTCAGTATAAGACAGTGCTGACCAATGATTCCTTCCAAGCACAGCTGCTAACAATGAAAGACACTGTGATCATTTAGTTATCTGACAAATATACAATTTGAGAAGACACAGAACTTTGGCATAGTTTTAAAGACATTAGATGGTGTACTATCCTGCTAGCACAAATTAAATCAGAGCCTGCCTGTCTCATTAATATGATTCCTAAGTGTCTATCTTAATTCCTTGCATTTTACTACAATTATCTTGCTCTAATACACAAGGGAAGTGGTTTTGGAGGTGATAACTCACTATTTTTAGGCTAGAACACAAAGAACAATTAGTGAATTTAAGTAAGAAAGTGGAAGTTATCAACTAATGTGCTATTAAAAATATTATTTTTAGTAAGAGGCATCCTAGGAGTTACAGAATGTCTACATTCTACAGAAATGTCTTCCTCTCAAGTCTTCAGAGAGCAAAGGTCACAGCTACCTAAAGTGTTTCCACTTCAAGCACAGATTGTATGCCTGAAGACTACATACCTTGCATTATCAACCAGTTCAGCAAGGGCACCAAACAAGAATTTGTGAGTGGTTCTGAAATGATAAATACTAAAAGTCAGCAAAAGAATTATTGAAGTTATAATTCCTAATAAAAAGCCATGGTTATAAAATATTTAAGTTTTTTGAAAAAAATCTTAAAACCACCATTTGCATTGTTTTTATACTACTCAAGGCTTTCCAGAGCTCCCCAACTCCCCTCAATTGTTAATCTTTAACAAGTCCTGCCATCTATTCAGAAATGATTATTCTTCCTATTTTGAGTTGGGAAACCCACCCTGAAGCATTGAAAGAGTCCTATGTGTAGTAACTGCTAAAAGTGTTTTTCACTATTCATATCCTGCCTAGAAAAATGCCTGTATATTTTATTTTTCATTGCCTTAACCAGTGGTCAGTTTCTGCATATCTCAGAGCAAGAATTTTAAGGATATATCTTATGCATAAATATTGAACTTTGTTTTTTGTTTTTTCTTTGAGACAGGTTCTCATTCTTGTCACTCGGACTGGAGTATAGTAAGTTTTGAATAACATGATAACTGTGTATTTACTCAATCCAAACTTTGAGCAGCCTCCCAGAGGAGATGACCACTGGTTCCCCTCCTTGAAGGGGTTAATGTTAACAGGGGCCCTAGGCAACCACACCAAGCAAGCTCTTGTCATCCTAGAAGGAATTGTTGGAAAAGGTCTTCGATTACTTTCTTTAATGGAGGGAAAGTTCTGGTTTTAGCCAAAATCTGAGAAAGTCATAAAATGAGTTATTCTCTTTACCTTCTCTTTCAAATGGGATATTTTTGCTTATAAATTACACAAAAGTGTATGAGTTTCCTTTCTTCACTGGTAGATGACGCACAAGTATTGGTAAAACAAAATGCTAACAAGTTATACATTGAGCATGTGCAATTTACACTGTTTAATTTGTGCTCTTTTCCACAATAGTCCTCATGAGATATCAAATTAGGATGTGTCCACATAGAACCACCTAAAAAAAAAACACTTGACTTCTGATTAAATACAATATTAACCCACATAATACATGACCATCAATTTTTCAAAAATATCCATGTTACTCTGACTTTTTTGCATAGAGTTTCAGCCAAAGTAAAAAGTTTCAGCCAATTTTCAGTTAAAGTAAGAATTTTTAAATGAAATATATCAATAGTAAATAACCAGCATCTAGGATCTCTGATCGCTTACCATATTGCAAACAAAATGTAAAACATTTATTAAATAAATATCCATAACTAAACTCTCCAGGAATATTGTTTTTTCTTCCTCAAGTAACTCCAAATTTTTACAAATGCAATTTTTTTGTTTTGTTTTGTTTTTGAGACAGAGTTTCGCTCTTGTCGCCCAGGCTGGAGTGCGATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTTGGCCTCCAGAATAGCTGGGATTACAGGCATGCGCCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGAGGAGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGACTCCCAAAGTGCTGAGATTACAGACCTGAGCCACCACACACGGCCTACAAATGCAAATTTTGAATTAAACTATCACTTGGTGGAATTATAGGAAGACCTTTCCCCCAACAAGATCAGTGAATATATGTGCTGCTAATCCAAAGGCAGCACGACAAATATGTTATAACCAAAAGAAATTTTATCATCAATTTACCTAGGAAATAGAGTTCAAATTCTTCTGGGTAAAATCTAATTAATTATACTACAGGGAAAAGACAGATTTATTTATTTATTTATTTATTTTGAGACGGAGTTTTTCCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCCGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGTATTACAAGCATAGGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCAACCTCAGGTGAT
Task1_train_28715
A mutation in MORC2 (MORC family CW-type zinc finger 2), located on Chromosome 22, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; MORC2-related neurodevelopmental disorders
GACCTGGAATAATCATGCCATCTTCCCAGGCTCCCGAATCCAGTTATTTCCCACTCAATTCTTCTTAGGCACAGTAATAAATGCATTAAGATGAACTAGACATTAGAAGGACTAAAGCCTGACTTACCTGCATAAATATCTATTCTGGTGGCATCAGCATCTCTGCAAAGTGAAAAGAAAAGAATCATGTGAATTAATATGAAATATCAACCATCAAAATGCATAGTGATTTGAGTAGAATGCAGAGTATTTTGAGTCTGTTTTCAGGAAGCCATACAGAAATTCTATAGACATTTAGAATTTTTTTTACTTTTATACTTGACAACACAATTTTCTTTATATATCTGTAAAACATTTCTGAAGCCCCAAATTATTGAAGATGATCACATGACATGGGGCCTGGATATTTTTTTTAAATCCTGATTTTGTGGTAAAAACATCTATAGGATAAGCAAGAATATTTCCCTTTATACCCTAAGAAATGATTCAAATATGTTTTTCTCACTCATTTGATTGCAATCATAAAAAGATGTTCCAATAACTTGTCCACTTTTTCTTCTCGTCAATATTTTAAGAAAAAAGGAAGACAATAATCTCCCACAAAACCTGTGAAAAATCACTTCTCGTGGTATACACACTGCAGTCAGCAGACTGATTCCTGAGCCCATAATCTTAACCTCCCTAAACCTGAAAGGAAGTTGGGATACCCCTGCCCCATTAGACTCCAACCATTGGCTGAAATCATACAGATTCAGTTATCAATGAAGACTTCCATAAAGGCTCAGAAGTAATTTAGTCCAATTCTGCCAACTGCAAAGAAAATGAAACCGTTTCACTGGTTTTACATGCAAAAAATCCACACAGCTCTACATATACCTATTCTCAAATATCTAAAACATTTTCAAATATGAGAGATACTGGCAAAATGTATACACAAGTAGGAATACATACTCCTAAGAATCTCTATTTTACCATATGATACACAAAAAAAGCAGCCTGCCACCGCACATCATGGTCTCACTAAATTAACAAGTGGCAAATTCAAACACAGTTCCATTAACCTACAACACTTTTTAATTGAATGGAAAAATGATGAGTCAACCAGGATTGAAACAAAACAGGAGTTTTCTGGTTAAACAACTAGCACACTTCCATGAGCAGTCCAGCTAATAACAACAACAAAAGTAATTAGAATAAGTTTATTGTATACACAGAGGTAAAGAGGAAATTATCAGCGAGCACATTAACTGGAGATCTGTTTGAAAGTACTTCCGCTGTCAATTTTCATCCTCCTCTTCCTTCCTTAGTCATCAAAACCTAGTCAGTAAATGTGTCTGAATTTTATGTTTGCATTCAGGAATAAGACTAAGACACTATTTTCCTAATTATAAACAGAATCTTGATATGGACTTGGATTTACATCAGAACTAACCCAAACTTCTATTCAGTCTTACACAGTAACATTTACATGTTTCTATCACTAAGAACTCAGTATAAGACAGTGCTGACCAATGATTCCTTCCAAGCACAGCTGCTAACAATGAAAGACACTGTGATCATTTAGTTATCTGACAAATATACAATTTGAGAAGACACAGAACTTTGGCATAGTTTTAAAGACATTAGATGGTGTACTATCCTGCTAGCACAAATTAAATCAGAGCCTGCCTGTCTCATTAATATGATTCCTAAGTGTCTATCTTAATTCCTTGCATTTTACTACAATTATCTTGCTCTAATACACAAGGGAAGTGGTTTTGGAGGTGATAACTCACTATTTTTAGGCTAGAACACAAAGAACAATTAGTGAATTTAAGTAAGAAAGTGGAAGTTATCAACTAATGTGCTATTAAAAATATTATTTTTAGTAAGAGGCATCCTAGGAGTTACAGAATGTCTACATTCTACAGAAATGTCTTCCTCTCAAGTCTTCAGAGAGCAAAGGTCACAGCTACCTAAAGTGTTTCCACTTCAAGCACAGATTGTATGCCTGAAGACTACATACCTTGCATTATCAACCAGTTCAGCAAGGGCACCAAACAAGAATTCGTGAGTGGTTCTGAAATGATAAATACTAAAAGTCAGCAAAAGAATTATTGAAGTTATAATTCCTAATAAAAAGCCATGGTTATAAAATATTTAAGTTTTTTGAAAAAAATCTTAAAACCACCATTTGCATTGTTTTTATACTACTCAAGGCTTTCCAGAGCTCCCCAACTCCCCTCAATTGTTAATCTTTAACAAGTCCTGCCATCTATTCAGAAATGATTATTCTTCCTATTTTGAGTTGGGAAACCCACCCTGAAGCATTGAAAGAGTCCTATGTGTAGTAACTGCTAAAAGTGTTTTTCACTATTCATATCCTGCCTAGAAAAATGCCTGTATATTTTATTTTTCATTGCCTTAACCAGTGGTCAGTTTCTGCATATCTCAGAGCAAGAATTTTAAGGATATATCTTATGCATAAATATTGAACTTTGTTTTTTGTTTTTTCTTTGAGACAGGTTCTCATTCTTGTCACTCGGACTGGAGTATAGTAAGTTTTGAATAACATGATAACTGTGTATTTACTCAATCCAAACTTTGAGCAGCCTCCCAGAGGAGATGACCACTGGTTCCCCTCCTTGAAGGGGTTAATGTTAACAGGGGCCCTAGGCAACCACACCAAGCAAGCTCTTGTCATCCTAGAAGGAATTGTTGGAAAAGGTCTTCGATTACTTTCTTTAATGGAGGGAAAGTTCTGGTTTTAGCCAAAATCTGAGAAAGTCATAAAATGAGTTATTCTCTTTACCTTCTCTTTCAAATGGGATATTTTTGCTTATAAATTACACAAAAGTGTATGAGTTTCCTTTCTTCACTGGTAGATGACGCACAAGTATTGGTAAAACAAAATGCTAACAAGTTATACATTGAGCATGTGCAATTTACACTGTTTAATTTGTGCTCTTTTCCACAATAGTCCTCATGAGATATCAAATTAGGATGTGTCCACATAGAACCACCTAAAAAAAAAACACTTGACTTCTGATTAAATACAATATTAACCCACATAATACATGACCATCAATTTTTCAAAAATATCCATGTTACTCTGACTTTTTTGCATAGAGTTTCAGCCAAAGTAAAAAGTTTCAGCCAATTTTCAGTTAAAGTAAGAATTTTTAAATGAAATATATCAATAGTAAATAACCAGCATCTAGGATCTCTGATCGCTTACCATATTGCAAACAAAATGTAAAACATTTATTAAATAAATATCCATAACTAAACTCTCCAGGAATATTGTTTTTTCTTCCTCAAGTAACTCCAAATTTTTACAAATGCAATTTTTTTGTTTTGTTTTGTTTTTGAGACAGAGTTTCGCTCTTGTCGCCCAGGCTGGAGTGCGATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTTGGCCTCCAGAATAGCTGGGATTACAGGCATGCGCCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGAGGAGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGACTCCCAAAGTGCTGAGATTACAGACCTGAGCCACCACACACGGCCTACAAATGCAAATTTTGAATTAAACTATCACTTGGTGGAATTATAGGAAGACCTTTCCCCCAACAAGATCAGTGAATATATGTGCTGCTAATCCAAAGGCAGCACGACAAATATGTTATAACCAAAAGAAATTTTATCATCAATTTACCTAGGAAATAGAGTTCAAATTCTTCTGGGTAAAATCTAATTAATTATACTACAGGGAAAAGACAGATTTATTTATTTATTTATTTATTTTGAGACGGAGTTTTTCCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCCGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGTATTACAAGCATAGGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCAACCTCAGGTGAT
GACCTGGAATAATCATGCCATCTTCCCAGGCTCCCGAATCCAGTTATTTCCCACTCAATTCTTCTTAGGCACAGTAATAAATGCATTAAGATGAACTAGACATTAGAAGGACTAAAGCCTGACTTACCTGCATAAATATCTATTCTGGTGGCATCAGCATCTCTGCAAAGTGAAAAGAAAAGAATCATGTGAATTAATATGAAATATCAACCATCAAAATGCATAGTGATTTGAGTAGAATGCAGAGTATTTTGAGTCTGTTTTCAGGAAGCCATACAGAAATTCTATAGACATTTAGAATTTTTTTTACTTTTATACTTGACAACACAATTTTCTTTATATATCTGTAAAACATTTCTGAAGCCCCAAATTATTGAAGATGATCACATGACATGGGGCCTGGATATTTTTTTTAAATCCTGATTTTGTGGTAAAAACATCTATAGGATAAGCAAGAATATTTCCCTTTATACCCTAAGAAATGATTCAAATATGTTTTTCTCACTCATTTGATTGCAATCATAAAAAGATGTTCCAATAACTTGTCCACTTTTTCTTCTCGTCAATATTTTAAGAAAAAAGGAAGACAATAATCTCCCACAAAACCTGTGAAAAATCACTTCTCGTGGTATACACACTGCAGTCAGCAGACTGATTCCTGAGCCCATAATCTTAACCTCCCTAAACCTGAAAGGAAGTTGGGATACCCCTGCCCCATTAGACTCCAACCATTGGCTGAAATCATACAGATTCAGTTATCAATGAAGACTTCCATAAAGGCTCAGAAGTAATTTAGTCCAATTCTGCCAACTGCAAAGAAAATGAAACCGTTTCACTGGTTTTACATGCAAAAAATCCACACAGCTCTACATATACCTATTCTCAAATATCTAAAACATTTTCAAATATGAGAGATACTGGCAAAATGTATACACAAGTAGGAATACATACTCCTAAGAATCTCTATTTTACCATATGATACACAAAAAAAGCAGCCTGCCACCGCACATCATGGTCTCACTAAATTAACAAGTGGCAAATTCAAACACAGTTCCATTAACCTACAACACTTTTTAATTGAATGGAAAAATGATGAGTCAACCAGGATTGAAACAAAACAGGAGTTTTCTGGTTAAACAACTAGCACACTTCCATGAGCAGTCCAGCTAATAACAACAACAAAAGTAATTAGAATAAGTTTATTGTATACACAGAGGTAAAGAGGAAATTATCAGCGAGCACATTAACTGGAGATCTGTTTGAAAGTACTTCCGCTGTCAATTTTCATCCTCCTCTTCCTTCCTTAGTCATCAAAACCTAGTCAGTAAATGTGTCTGAATTTTATGTTTGCATTCAGGAATAAGACTAAGACACTATTTTCCTAATTATAAACAGAATCTTGATATGGACTTGGATTTACATCAGAACTAACCCAAACTTCTATTCAGTCTTACACAGTAACATTTACATGTTTCTATCACTAAGAACTCAGTATAAGACAGTGCTGACCAATGATTCCTTCCAAGCACAGCTGCTAACAATGAAAGACACTGTGATCATTTAGTTATCTGACAAATATACAATTTGAGAAGACACAGAACTTTGGCATAGTTTTAAAGACATTAGATGGTGTACTATCCTGCTAGCACAAATTAAATCAGAGCCTGCCTGTCTCATTAATATGATTCCTAAGTGTCTATCTTAATTCCTTGCATTTTACTACAATTATCTTGCTCTAATACACAAGGGAAGTGGTTTTGGAGGTGATAACTCACTATTTTTAGGCTAGAACACAAAGAACAATTAGTGAATTTAAGTAAGAAAGTGGAAGTTATCAACTAATGTGCTATTAAAAATATTATTTTTAGTAAGAGGCATCCTAGGAGTTACAGAATGTCTACATTCTACAGAAATGTCTTCCTCTCAAGTCTTCAGAGAGCAAAGGTCACAGCTACCTAAAGTGTTTCCACTTCAAGCACAGATTGTATGCCTGAAGACTACATACCTTGCATTATCAACCAGTTCAGCAAGGGCACCAAACAAGAATTTGTGAGTGGTTCTGAAATGATAAATACTAAAAGTCAGCAAAAGAATTATTGAAGTTATAATTCCTAATAAAAAGCCATGGTTATAAAATATTTAAGTTTTTTGAAAAAAATCTTAAAACCACCATTTGCATTGTTTTTATACTACTCAAGGCTTTCCAGAGCTCCCCAACTCCCCTCAATTGTTAATCTTTAACAAGTCCTGCCATCTATTCAGAAATGATTATTCTTCCTATTTTGAGTTGGGAAACCCACCCTGAAGCATTGAAAGAGTCCTATGTGTAGTAACTGCTAAAAGTGTTTTTCACTATTCATATCCTGCCTAGAAAAATGCCTGTATATTTTATTTTTCATTGCCTTAACCAGTGGTCAGTTTCTGCATATCTCAGAGCAAGAATTTTAAGGATATATCTTATGCATAAATATTGAACTTTGTTTTTTGTTTTTTCTTTGAGACAGGTTCTCATTCTTGTCACTCGGACTGGAGTATAGTAAGTTTTGAATAACATGATAACTGTGTATTTACTCAATCCAAACTTTGAGCAGCCTCCCAGAGGAGATGACCACTGGTTCCCCTCCTTGAAGGGGTTAATGTTAACAGGGGCCCTAGGCAACCACACCAAGCAAGCTCTTGTCATCCTAGAAGGAATTGTTGGAAAAGGTCTTCGATTACTTTCTTTAATGGAGGGAAAGTTCTGGTTTTAGCCAAAATCTGAGAAAGTCATAAAATGAGTTATTCTCTTTACCTTCTCTTTCAAATGGGATATTTTTGCTTATAAATTACACAAAAGTGTATGAGTTTCCTTTCTTCACTGGTAGATGACGCACAAGTATTGGTAAAACAAAATGCTAACAAGTTATACATTGAGCATGTGCAATTTACACTGTTTAATTTGTGCTCTTTTCCACAATAGTCCTCATGAGATATCAAATTAGGATGTGTCCACATAGAACCACCTAAAAAAAAAACACTTGACTTCTGATTAAATACAATATTAACCCACATAATACATGACCATCAATTTTTCAAAAATATCCATGTTACTCTGACTTTTTTGCATAGAGTTTCAGCCAAAGTAAAAAGTTTCAGCCAATTTTCAGTTAAAGTAAGAATTTTTAAATGAAATATATCAATAGTAAATAACCAGCATCTAGGATCTCTGATCGCTTACCATATTGCAAACAAAATGTAAAACATTTATTAAATAAATATCCATAACTAAACTCTCCAGGAATATTGTTTTTTCTTCCTCAAGTAACTCCAAATTTTTACAAATGCAATTTTTTTGTTTTGTTTTGTTTTTGAGACAGAGTTTCGCTCTTGTCGCCCAGGCTGGAGTGCGATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTTGGCCTCCAGAATAGCTGGGATTACAGGCATGCGCCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGAGGAGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGACTCCCAAAGTGCTGAGATTACAGACCTGAGCCACCACACACGGCCTACAAATGCAAATTTTGAATTAAACTATCACTTGGTGGAATTATAGGAAGACCTTTCCCCCAACAAGATCAGTGAATATATGTGCTGCTAATCCAAAGGCAGCACGACAAATATGTTATAACCAAAAGAAATTTTATCATCAATTTACCTAGGAAATAGAGTTCAAATTCTTCTGGGTAAAATCTAATTAATTATACTACAGGGAAAAGACAGATTTATTTATTTATTTATTTATTTTGAGACGGAGTTTTTCCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCCGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGTATTACAAGCATAGGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCAACCTCAGGTGAT
Task1_train_28716
Located on Chromosome 22, this mutation impacts MORC2 (MORC family CW-type zinc finger 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
GACCTGGAATAATCATGCCATCTTCCCAGGCTCCCGAATCCAGTTATTTCCCACTCAATTCTTCTTAGGCACAGTAATAAATGCATTAAGATGAACTAGACATTAGAAGGACTAAAGCCTGACTTACCTGCATAAATATCTATTCTGGTGGCATCAGCATCTCTGCAAAGTGAAAAGAAAAGAATCATGTGAATTAATATGAAATATCAACCATCAAAATGCATAGTGATTTGAGTAGAATGCAGAGTATTTTGAGTCTGTTTTCAGGAAGCCATACAGAAATTCTATAGACATTTAGAATTTTTTTTACTTTTATACTTGACAACACAATTTTCTTTATATATCTGTAAAACATTTCTGAAGCCCCAAATTATTGAAGATGATCACATGACATGGGGCCTGGATATTTTTTTTAAATCCTGATTTTGTGGTAAAAACATCTATAGGATAAGCAAGAATATTTCCCTTTATACCCTAAGAAATGATTCAAATATGTTTTTCTCACTCATTTGATTGCAATCATAAAAAGATGTTCCAATAACTTGTCCACTTTTTCTTCTCGTCAATATTTTAAGAAAAAAGGAAGACAATAATCTCCCACAAAACCTGTGAAAAATCACTTCTCGTGGTATACACACTGCAGTCAGCAGACTGATTCCTGAGCCCATAATCTTAACCTCCCTAAACCTGAAAGGAAGTTGGGATACCCCTGCCCCATTAGACTCCAACCATTGGCTGAAATCATACAGATTCAGTTATCAATGAAGACTTCCATAAAGGCTCAGAAGTAATTTAGTCCAATTCTGCCAACTGCAAAGAAAATGAAACCGTTTCACTGGTTTTACATGCAAAAAATCCACACAGCTCTACATATACCTATTCTCAAATATCTAAAACATTTTCAAATATGAGAGATACTGGCAAAATGTATACACAAGTAGGAATACATACTCCTAAGAATCTCTATTTTACCATATGATACACAAAAAAAGCAGCCTGCCACCGCACATCATGGTCTCACTAAATTAACAAGTGGCAAATTCAAACACAGTTCCATTAACCTACAACACTTTTTAATTGAATGGAAAAATGATGAGTCAACCAGGATTGAAACAAAACAGGAGTTTTCTGGTTAAACAACTAGCACACTTCCATGAGCAGTCCAGCTAATAACAACAACAAAAGTAATTAGAATAAGTTTATTGTATACACAGAGGTAAAGAGGAAATTATCAGCGAGCACATTAACTGGAGATCTGTTTGAAAGTACTTCCGCTGTCAATTTTCATCCTCCTCTTCCTTCCTTAGTCATCAAAACCTAGTCAGTAAATGTGTCTGAATTTTATGTTTGCATTCAGGAATAAGACTAAGACACTATTTTCCTAATTATAAACAGAATCTTGATATGGACTTGGATTTACATCAGAACTAACCCAAACTTCTATTCAGTCTTACACAGTAACATTTACATGTTTCTATCACTAAGAACTCAGTATAAGACAGTGCTGACCAATGATTCCTTCCAAGCACAGCTGCTAACAATGAAAGACACTGTGATCATTTAGTTATCTGACAAATATACAATTTGAGAAGACACAGAACTTTGGCATAGTTTTAAAGACATTAGATGGTGTACTATCCTGCTAGCACAAATTAAATCAGAGCCTGCCTGTCTCATTAATATGATTCCTAAGTGTCTATCTTAATTCCTTGCATTTTACTACAATTATCTTGCTCTAATACACAAGGGAAGTGGTTTTGGAGGTGATAACTCACTATTTTTAGGCTAGAACACAAAGAACAATTAGTGAATTTAAGTAAGAAAGTGGAAGTTATCAACTAATGTGCTATTAAAAATATTATTTTTAGTAAGAGGCATCCTAGGAGTTACAGAATGTCTACATTCTACAGAAATGTCTTCCTCTCAAGTCTTCAGAGAGCAAAGGTCACAGCTACCTAAAGTGTTTCCACTTCAAGCACAGATTGTATGCCTGAAGACTACATACCTTGCATTATCAACCAGTTCAGCAAGGGCACCAAACAAGAATTCGTGAGTGGTTCTGAAATGATAAATACTAAAAGTCAGCAAAAGAATTATTGAAGTTATAATTCCTAATAAAAAGCCATGGTTATAAAATATTTAAGTTTTTTGAAAAAAATCTTAAAACCACCATTTGCATTGTTTTTATACTACTCAAGGCTTTCCAGAGCTCCCCAACTCCCCTCAATTGTTAATCTTTAACAAGTCCTGCCATCTATTCAGAAATGATTATTCTTCCTATTTTGAGTTGGGAAACCCACCCTGAAGCATTGAAAGAGTCCTATGTGTAGTAACTGCTAAAAGTGTTTTTCACTATTCATATCCTGCCTAGAAAAATGCCTGTATATTTTATTTTTCATTGCCTTAACCAGTGGTCAGTTTCTGCATATCTCAGAGCAAGAATTTTAAGGATATATCTTATGCATAAATATTGAACTTTGTTTTTTGTTTTTTCTTTGAGACAGGTTCTCATTCTTGTCACTCGGACTGGAGTATAGTAAGTTTTGAATAACATGATAACTGTGTATTTACTCAATCCAAACTTTGAGCAGCCTCCCAGAGGAGATGACCACTGGTTCCCCTCCTTGAAGGGGTTAATGTTAACAGGGGCCCTAGGCAACCACACCAAGCAAGCTCTTGTCATCCTAGAAGGAATTGTTGGAAAAGGTCTTCGATTACTTTCTTTAATGGAGGGAAAGTTCTGGTTTTAGCCAAAATCTGAGAAAGTCATAAAATGAGTTATTCTCTTTACCTTCTCTTTCAAATGGGATATTTTTGCTTATAAATTACACAAAAGTGTATGAGTTTCCTTTCTTCACTGGTAGATGACGCACAAGTATTGGTAAAACAAAATGCTAACAAGTTATACATTGAGCATGTGCAATTTACACTGTTTAATTTGTGCTCTTTTCCACAATAGTCCTCATGAGATATCAAATTAGGATGTGTCCACATAGAACCACCTAAAAAAAAAACACTTGACTTCTGATTAAATACAATATTAACCCACATAATACATGACCATCAATTTTTCAAAAATATCCATGTTACTCTGACTTTTTTGCATAGAGTTTCAGCCAAAGTAAAAAGTTTCAGCCAATTTTCAGTTAAAGTAAGAATTTTTAAATGAAATATATCAATAGTAAATAACCAGCATCTAGGATCTCTGATCGCTTACCATATTGCAAACAAAATGTAAAACATTTATTAAATAAATATCCATAACTAAACTCTCCAGGAATATTGTTTTTTCTTCCTCAAGTAACTCCAAATTTTTACAAATGCAATTTTTTTGTTTTGTTTTGTTTTTGAGACAGAGTTTCGCTCTTGTCGCCCAGGCTGGAGTGCGATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTTGGCCTCCAGAATAGCTGGGATTACAGGCATGCGCCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGAGGAGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGACTCCCAAAGTGCTGAGATTACAGACCTGAGCCACCACACACGGCCTACAAATGCAAATTTTGAATTAAACTATCACTTGGTGGAATTATAGGAAGACCTTTCCCCCAACAAGATCAGTGAATATATGTGCTGCTAATCCAAAGGCAGCACGACAAATATGTTATAACCAAAAGAAATTTTATCATCAATTTACCTAGGAAATAGAGTTCAAATTCTTCTGGGTAAAATCTAATTAATTATACTACAGGGAAAAGACAGATTTATTTATTTATTTATTTATTTTGAGACGGAGTTTTTCCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCCGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGTATTACAAGCATAGGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCAACCTCAGGTGAT
GACCTGGAATAATCATGCCATCTTCCCAGGCTCCCGAATCCAGTTATTTCCCACTCAATTCTTCTTAGGCACAGTAATAAATGCATTAAGATGAACTAGACATTAGAAGGACTAAAGCCTGACTTACCTGCATAAATATCTATTCTGGTGGCATCAGCATCTCTGCAAAGTGAAAAGAAAAGAATCATGTGAATTAATATGAAATATCAACCATCAAAATGCATAGTGATTTGAGTAGAATGCAGAGTATTTTGAGTCTGTTTTCAGGAAGCCATACAGAAATTCTATAGACATTTAGAATTTTTTTTACTTTTATACTTGACAACACAATTTTCTTTATATATCTGTAAAACATTTCTGAAGCCCCAAATTATTGAAGATGATCACATGACATGGGGCCTGGATATTTTTTTTAAATCCTGATTTTGTGGTAAAAACATCTATAGGATAAGCAAGAATATTTCCCTTTATACCCTAAGAAATGATTCAAATATGTTTTTCTCACTCATTTGATTGCAATCATAAAAAGATGTTCCAATAACTTGTCCACTTTTTCTTCTCGTCAATATTTTAAGAAAAAAGGAAGACAATAATCTCCCACAAAACCTGTGAAAAATCACTTCTCGTGGTATACACACTGCAGTCAGCAGACTGATTCCTGAGCCCATAATCTTAACCTCCCTAAACCTGAAAGGAAGTTGGGATACCCCTGCCCCATTAGACTCCAACCATTGGCTGAAATCATACAGATTCAGTTATCAATGAAGACTTCCATAAAGGCTCAGAAGTAATTTAGTCCAATTCTGCCAACTGCAAAGAAAATGAAACCGTTTCACTGGTTTTACATGCAAAAAATCCACACAGCTCTACATATACCTATTCTCAAATATCTAAAACATTTTCAAATATGAGAGATACTGGCAAAATGTATACACAAGTAGGAATACATACTCCTAAGAATCTCTATTTTACCATATGATACACAAAAAAAGCAGCCTGCCACCGCACATCATGGTCTCACTAAATTAACAAGTGGCAAATTCAAACACAGTTCCATTAACCTACAACACTTTTTAATTGAATGGAAAAATGATGAGTCAACCAGGATTGAAACAAAACAGGAGTTTTCTGGTTAAACAACTAGCACACTTCCATGAGCAGTCCAGCTAATAACAACAACAAAAGTAATTAGAATAAGTTTATTGTATACACAGAGGTAAAGAGGAAATTATCAGCGAGCACATTAACTGGAGATCTGTTTGAAAGTACTTCCGCTGTCAATTTTCATCCTCCTCTTCCTTCCTTAGTCATCAAAACCTAGTCAGTAAATGTGTCTGAATTTTATGTTTGCATTCAGGAATAAGACTAAGACACTATTTTCCTAATTATAAACAGAATCTTGATATGGACTTGGATTTACATCAGAACTAACCCAAACTTCTATTCAGTCTTACACAGTAACATTTACATGTTTCTATCACTAAGAACTCAGTATAAGACAGTGCTGACCAATGATTCCTTCCAAGCACAGCTGCTAACAATGAAAGACACTGTGATCATTTAGTTATCTGACAAATATACAATTTGAGAAGACACAGAACTTTGGCATAGTTTTAAAGACATTAGATGGTGTACTATCCTGCTAGCACAAATTAAATCAGAGCCTGCCTGTCTCATTAATATGATTCCTAAGTGTCTATCTTAATTCCTTGCATTTTACTACAATTATCTTGCTCTAATACACAAGGGAAGTGGTTTTGGAGGTGATAACTCACTATTTTTAGGCTAGAACACAAAGAACAATTAGTGAATTTAAGTAAGAAAGTGGAAGTTATCAACTAATGTGCTATTAAAAATATTATTTTTAGTAAGAGGCATCCTAGGAGTTACAGAATGTCTACATTCTACAGAAATGTCTTCCTCTCAAGTCTTCAGAGAGCAAAGGTCACAGCTACCTAAAGTGTTTCCACTTCAAGCACAGATTGTATGCCTGAAGACTACATACCTTGCATTATCAACCAGTTCAGCAAGGGCACCAAACAAGAATTTGTGAGTGGTTCTGAAATGATAAATACTAAAAGTCAGCAAAAGAATTATTGAAGTTATAATTCCTAATAAAAAGCCATGGTTATAAAATATTTAAGTTTTTTGAAAAAAATCTTAAAACCACCATTTGCATTGTTTTTATACTACTCAAGGCTTTCCAGAGCTCCCCAACTCCCCTCAATTGTTAATCTTTAACAAGTCCTGCCATCTATTCAGAAATGATTATTCTTCCTATTTTGAGTTGGGAAACCCACCCTGAAGCATTGAAAGAGTCCTATGTGTAGTAACTGCTAAAAGTGTTTTTCACTATTCATATCCTGCCTAGAAAAATGCCTGTATATTTTATTTTTCATTGCCTTAACCAGTGGTCAGTTTCTGCATATCTCAGAGCAAGAATTTTAAGGATATATCTTATGCATAAATATTGAACTTTGTTTTTTGTTTTTTCTTTGAGACAGGTTCTCATTCTTGTCACTCGGACTGGAGTATAGTAAGTTTTGAATAACATGATAACTGTGTATTTACTCAATCCAAACTTTGAGCAGCCTCCCAGAGGAGATGACCACTGGTTCCCCTCCTTGAAGGGGTTAATGTTAACAGGGGCCCTAGGCAACCACACCAAGCAAGCTCTTGTCATCCTAGAAGGAATTGTTGGAAAAGGTCTTCGATTACTTTCTTTAATGGAGGGAAAGTTCTGGTTTTAGCCAAAATCTGAGAAAGTCATAAAATGAGTTATTCTCTTTACCTTCTCTTTCAAATGGGATATTTTTGCTTATAAATTACACAAAAGTGTATGAGTTTCCTTTCTTCACTGGTAGATGACGCACAAGTATTGGTAAAACAAAATGCTAACAAGTTATACATTGAGCATGTGCAATTTACACTGTTTAATTTGTGCTCTTTTCCACAATAGTCCTCATGAGATATCAAATTAGGATGTGTCCACATAGAACCACCTAAAAAAAAAACACTTGACTTCTGATTAAATACAATATTAACCCACATAATACATGACCATCAATTTTTCAAAAATATCCATGTTACTCTGACTTTTTTGCATAGAGTTTCAGCCAAAGTAAAAAGTTTCAGCCAATTTTCAGTTAAAGTAAGAATTTTTAAATGAAATATATCAATAGTAAATAACCAGCATCTAGGATCTCTGATCGCTTACCATATTGCAAACAAAATGTAAAACATTTATTAAATAAATATCCATAACTAAACTCTCCAGGAATATTGTTTTTTCTTCCTCAAGTAACTCCAAATTTTTACAAATGCAATTTTTTTGTTTTGTTTTGTTTTTGAGACAGAGTTTCGCTCTTGTCGCCCAGGCTGGAGTGCGATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTTGGCCTCCAGAATAGCTGGGATTACAGGCATGCGCCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGAGGAGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGACTCCCAAAGTGCTGAGATTACAGACCTGAGCCACCACACACGGCCTACAAATGCAAATTTTGAATTAAACTATCACTTGGTGGAATTATAGGAAGACCTTTCCCCCAACAAGATCAGTGAATATATGTGCTGCTAATCCAAAGGCAGCACGACAAATATGTTATAACCAAAAGAAATTTTATCATCAATTTACCTAGGAAATAGAGTTCAAATTCTTCTGGGTAAAATCTAATTAATTATACTACAGGGAAAAGACAGATTTATTTATTTATTTATTTATTTTGAGACGGAGTTTTTCCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCCGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGTATTACAAGCATAGGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCAACCTCAGGTGAT
Task1_train_28717
A sequence alteration has been identified in MORC2 (MORC family CW-type zinc finger 2) on Chromosome 22. Is it disease-inducing or harmless?
Pathogenic; MORC2-related disorder
GACCTGGAATAATCATGCCATCTTCCCAGGCTCCCGAATCCAGTTATTTCCCACTCAATTCTTCTTAGGCACAGTAATAAATGCATTAAGATGAACTAGACATTAGAAGGACTAAAGCCTGACTTACCTGCATAAATATCTATTCTGGTGGCATCAGCATCTCTGCAAAGTGAAAAGAAAAGAATCATGTGAATTAATATGAAATATCAACCATCAAAATGCATAGTGATTTGAGTAGAATGCAGAGTATTTTGAGTCTGTTTTCAGGAAGCCATACAGAAATTCTATAGACATTTAGAATTTTTTTTACTTTTATACTTGACAACACAATTTTCTTTATATATCTGTAAAACATTTCTGAAGCCCCAAATTATTGAAGATGATCACATGACATGGGGCCTGGATATTTTTTTTAAATCCTGATTTTGTGGTAAAAACATCTATAGGATAAGCAAGAATATTTCCCTTTATACCCTAAGAAATGATTCAAATATGTTTTTCTCACTCATTTGATTGCAATCATAAAAAGATGTTCCAATAACTTGTCCACTTTTTCTTCTCGTCAATATTTTAAGAAAAAAGGAAGACAATAATCTCCCACAAAACCTGTGAAAAATCACTTCTCGTGGTATACACACTGCAGTCAGCAGACTGATTCCTGAGCCCATAATCTTAACCTCCCTAAACCTGAAAGGAAGTTGGGATACCCCTGCCCCATTAGACTCCAACCATTGGCTGAAATCATACAGATTCAGTTATCAATGAAGACTTCCATAAAGGCTCAGAAGTAATTTAGTCCAATTCTGCCAACTGCAAAGAAAATGAAACCGTTTCACTGGTTTTACATGCAAAAAATCCACACAGCTCTACATATACCTATTCTCAAATATCTAAAACATTTTCAAATATGAGAGATACTGGCAAAATGTATACACAAGTAGGAATACATACTCCTAAGAATCTCTATTTTACCATATGATACACAAAAAAAGCAGCCTGCCACCGCACATCATGGTCTCACTAAATTAACAAGTGGCAAATTCAAACACAGTTCCATTAACCTACAACACTTTTTAATTGAATGGAAAAATGATGAGTCAACCAGGATTGAAACAAAACAGGAGTTTTCTGGTTAAACAACTAGCACACTTCCATGAGCAGTCCAGCTAATAACAACAACAAAAGTAATTAGAATAAGTTTATTGTATACACAGAGGTAAAGAGGAAATTATCAGCGAGCACATTAACTGGAGATCTGTTTGAAAGTACTTCCGCTGTCAATTTTCATCCTCCTCTTCCTTCCTTAGTCATCAAAACCTAGTCAGTAAATGTGTCTGAATTTTATGTTTGCATTCAGGAATAAGACTAAGACACTATTTTCCTAATTATAAACAGAATCTTGATATGGACTTGGATTTACATCAGAACTAACCCAAACTTCTATTCAGTCTTACACAGTAACATTTACATGTTTCTATCACTAAGAACTCAGTATAAGACAGTGCTGACCAATGATTCCTTCCAAGCACAGCTGCTAACAATGAAAGACACTGTGATCATTTAGTTATCTGACAAATATACAATTTGAGAAGACACAGAACTTTGGCATAGTTTTAAAGACATTAGATGGTGTACTATCCTGCTAGCACAAATTAAATCAGAGCCTGCCTGTCTCATTAATATGATTCCTAAGTGTCTATCTTAATTCCTTGCATTTTACTACAATTATCTTGCTCTAATACACAAGGGAAGTGGTTTTGGAGGTGATAACTCACTATTTTTAGGCTAGAACACAAAGAACAATTAGTGAATTTAAGTAAGAAAGTGGAAGTTATCAACTAATGTGCTATTAAAAATATTATTTTTAGTAAGAGGCATCCTAGGAGTTACAGAATGTCTACATTCTACAGAAATGTCTTCCTCTCAAGTCTTCAGAGAGCAAAGGTCACAGCTACCTAAAGTGTTTCCACTTCAAGCACAGATTGTATGCCTGAAGACTACATACCTTGCATTATCAACCAGTTCAGCAAGGGCACCAAACAAGAATTCGTGAGTGGTTCTGAAATGATAAATACTAAAAGTCAGCAAAAGAATTATTGAAGTTATAATTCCTAATAAAAAGCCATGGTTATAAAATATTTAAGTTTTTTGAAAAAAATCTTAAAACCACCATTTGCATTGTTTTTATACTACTCAAGGCTTTCCAGAGCTCCCCAACTCCCCTCAATTGTTAATCTTTAACAAGTCCTGCCATCTATTCAGAAATGATTATTCTTCCTATTTTGAGTTGGGAAACCCACCCTGAAGCATTGAAAGAGTCCTATGTGTAGTAACTGCTAAAAGTGTTTTTCACTATTCATATCCTGCCTAGAAAAATGCCTGTATATTTTATTTTTCATTGCCTTAACCAGTGGTCAGTTTCTGCATATCTCAGAGCAAGAATTTTAAGGATATATCTTATGCATAAATATTGAACTTTGTTTTTTGTTTTTTCTTTGAGACAGGTTCTCATTCTTGTCACTCGGACTGGAGTATAGTAAGTTTTGAATAACATGATAACTGTGTATTTACTCAATCCAAACTTTGAGCAGCCTCCCAGAGGAGATGACCACTGGTTCCCCTCCTTGAAGGGGTTAATGTTAACAGGGGCCCTAGGCAACCACACCAAGCAAGCTCTTGTCATCCTAGAAGGAATTGTTGGAAAAGGTCTTCGATTACTTTCTTTAATGGAGGGAAAGTTCTGGTTTTAGCCAAAATCTGAGAAAGTCATAAAATGAGTTATTCTCTTTACCTTCTCTTTCAAATGGGATATTTTTGCTTATAAATTACACAAAAGTGTATGAGTTTCCTTTCTTCACTGGTAGATGACGCACAAGTATTGGTAAAACAAAATGCTAACAAGTTATACATTGAGCATGTGCAATTTACACTGTTTAATTTGTGCTCTTTTCCACAATAGTCCTCATGAGATATCAAATTAGGATGTGTCCACATAGAACCACCTAAAAAAAAAACACTTGACTTCTGATTAAATACAATATTAACCCACATAATACATGACCATCAATTTTTCAAAAATATCCATGTTACTCTGACTTTTTTGCATAGAGTTTCAGCCAAAGTAAAAAGTTTCAGCCAATTTTCAGTTAAAGTAAGAATTTTTAAATGAAATATATCAATAGTAAATAACCAGCATCTAGGATCTCTGATCGCTTACCATATTGCAAACAAAATGTAAAACATTTATTAAATAAATATCCATAACTAAACTCTCCAGGAATATTGTTTTTTCTTCCTCAAGTAACTCCAAATTTTTACAAATGCAATTTTTTTGTTTTGTTTTGTTTTTGAGACAGAGTTTCGCTCTTGTCGCCCAGGCTGGAGTGCGATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTTGGCCTCCAGAATAGCTGGGATTACAGGCATGCGCCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGAGGAGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGACTCCCAAAGTGCTGAGATTACAGACCTGAGCCACCACACACGGCCTACAAATGCAAATTTTGAATTAAACTATCACTTGGTGGAATTATAGGAAGACCTTTCCCCCAACAAGATCAGTGAATATATGTGCTGCTAATCCAAAGGCAGCACGACAAATATGTTATAACCAAAAGAAATTTTATCATCAATTTACCTAGGAAATAGAGTTCAAATTCTTCTGGGTAAAATCTAATTAATTATACTACAGGGAAAAGACAGATTTATTTATTTATTTATTTATTTTGAGACGGAGTTTTTCCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCCGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGTATTACAAGCATAGGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCAACCTCAGGTGAT
GACCTGGAATAATCATGCCATCTTCCCAGGCTCCCGAATCCAGTTATTTCCCACTCAATTCTTCTTAGGCACAGTAATAAATGCATTAAGATGAACTAGACATTAGAAGGACTAAAGCCTGACTTACCTGCATAAATATCTATTCTGGTGGCATCAGCATCTCTGCAAAGTGAAAAGAAAAGAATCATGTGAATTAATATGAAATATCAACCATCAAAATGCATAGTGATTTGAGTAGAATGCAGAGTATTTTGAGTCTGTTTTCAGGAAGCCATACAGAAATTCTATAGACATTTAGAATTTTTTTTACTTTTATACTTGACAACACAATTTTCTTTATATATCTGTAAAACATTTCTGAAGCCCCAAATTATTGAAGATGATCACATGACATGGGGCCTGGATATTTTTTTTAAATCCTGATTTTGTGGTAAAAACATCTATAGGATAAGCAAGAATATTTCCCTTTATACCCTAAGAAATGATTCAAATATGTTTTTCTCACTCATTTGATTGCAATCATAAAAAGATGTTCCAATAACTTGTCCACTTTTTCTTCTCGTCAATATTTTAAGAAAAAAGGAAGACAATAATCTCCCACAAAACCTGTGAAAAATCACTTCTCGTGGTATACACACTGCAGTCAGCAGACTGATTCCTGAGCCCATAATCTTAACCTCCCTAAACCTGAAAGGAAGTTGGGATACCCCTGCCCCATTAGACTCCAACCATTGGCTGAAATCATACAGATTCAGTTATCAATGAAGACTTCCATAAAGGCTCAGAAGTAATTTAGTCCAATTCTGCCAACTGCAAAGAAAATGAAACCGTTTCACTGGTTTTACATGCAAAAAATCCACACAGCTCTACATATACCTATTCTCAAATATCTAAAACATTTTCAAATATGAGAGATACTGGCAAAATGTATACACAAGTAGGAATACATACTCCTAAGAATCTCTATTTTACCATATGATACACAAAAAAAGCAGCCTGCCACCGCACATCATGGTCTCACTAAATTAACAAGTGGCAAATTCAAACACAGTTCCATTAACCTACAACACTTTTTAATTGAATGGAAAAATGATGAGTCAACCAGGATTGAAACAAAACAGGAGTTTTCTGGTTAAACAACTAGCACACTTCCATGAGCAGTCCAGCTAATAACAACAACAAAAGTAATTAGAATAAGTTTATTGTATACACAGAGGTAAAGAGGAAATTATCAGCGAGCACATTAACTGGAGATCTGTTTGAAAGTACTTCCGCTGTCAATTTTCATCCTCCTCTTCCTTCCTTAGTCATCAAAACCTAGTCAGTAAATGTGTCTGAATTTTATGTTTGCATTCAGGAATAAGACTAAGACACTATTTTCCTAATTATAAACAGAATCTTGATATGGACTTGGATTTACATCAGAACTAACCCAAACTTCTATTCAGTCTTACACAGTAACATTTACATGTTTCTATCACTAAGAACTCAGTATAAGACAGTGCTGACCAATGATTCCTTCCAAGCACAGCTGCTAACAATGAAAGACACTGTGATCATTTAGTTATCTGACAAATATACAATTTGAGAAGACACAGAACTTTGGCATAGTTTTAAAGACATTAGATGGTGTACTATCCTGCTAGCACAAATTAAATCAGAGCCTGCCTGTCTCATTAATATGATTCCTAAGTGTCTATCTTAATTCCTTGCATTTTACTACAATTATCTTGCTCTAATACACAAGGGAAGTGGTTTTGGAGGTGATAACTCACTATTTTTAGGCTAGAACACAAAGAACAATTAGTGAATTTAAGTAAGAAAGTGGAAGTTATCAACTAATGTGCTATTAAAAATATTATTTTTAGTAAGAGGCATCCTAGGAGTTACAGAATGTCTACATTCTACAGAAATGTCTTCCTCTCAAGTCTTCAGAGAGCAAAGGTCACAGCTACCTAAAGTGTTTCCACTTCAAGCACAGATTGTATGCCTGAAGACTACATACCTTGCATTATCAACCAGTTCAGCAAGGGCACCAAACAAGAATTTGTGAGTGGTTCTGAAATGATAAATACTAAAAGTCAGCAAAAGAATTATTGAAGTTATAATTCCTAATAAAAAGCCATGGTTATAAAATATTTAAGTTTTTTGAAAAAAATCTTAAAACCACCATTTGCATTGTTTTTATACTACTCAAGGCTTTCCAGAGCTCCCCAACTCCCCTCAATTGTTAATCTTTAACAAGTCCTGCCATCTATTCAGAAATGATTATTCTTCCTATTTTGAGTTGGGAAACCCACCCTGAAGCATTGAAAGAGTCCTATGTGTAGTAACTGCTAAAAGTGTTTTTCACTATTCATATCCTGCCTAGAAAAATGCCTGTATATTTTATTTTTCATTGCCTTAACCAGTGGTCAGTTTCTGCATATCTCAGAGCAAGAATTTTAAGGATATATCTTATGCATAAATATTGAACTTTGTTTTTTGTTTTTTCTTTGAGACAGGTTCTCATTCTTGTCACTCGGACTGGAGTATAGTAAGTTTTGAATAACATGATAACTGTGTATTTACTCAATCCAAACTTTGAGCAGCCTCCCAGAGGAGATGACCACTGGTTCCCCTCCTTGAAGGGGTTAATGTTAACAGGGGCCCTAGGCAACCACACCAAGCAAGCTCTTGTCATCCTAGAAGGAATTGTTGGAAAAGGTCTTCGATTACTTTCTTTAATGGAGGGAAAGTTCTGGTTTTAGCCAAAATCTGAGAAAGTCATAAAATGAGTTATTCTCTTTACCTTCTCTTTCAAATGGGATATTTTTGCTTATAAATTACACAAAAGTGTATGAGTTTCCTTTCTTCACTGGTAGATGACGCACAAGTATTGGTAAAACAAAATGCTAACAAGTTATACATTGAGCATGTGCAATTTACACTGTTTAATTTGTGCTCTTTTCCACAATAGTCCTCATGAGATATCAAATTAGGATGTGTCCACATAGAACCACCTAAAAAAAAAACACTTGACTTCTGATTAAATACAATATTAACCCACATAATACATGACCATCAATTTTTCAAAAATATCCATGTTACTCTGACTTTTTTGCATAGAGTTTCAGCCAAAGTAAAAAGTTTCAGCCAATTTTCAGTTAAAGTAAGAATTTTTAAATGAAATATATCAATAGTAAATAACCAGCATCTAGGATCTCTGATCGCTTACCATATTGCAAACAAAATGTAAAACATTTATTAAATAAATATCCATAACTAAACTCTCCAGGAATATTGTTTTTTCTTCCTCAAGTAACTCCAAATTTTTACAAATGCAATTTTTTTGTTTTGTTTTGTTTTTGAGACAGAGTTTCGCTCTTGTCGCCCAGGCTGGAGTGCGATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTTGGCCTCCAGAATAGCTGGGATTACAGGCATGCGCCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGAGGAGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGACTCCCAAAGTGCTGAGATTACAGACCTGAGCCACCACACACGGCCTACAAATGCAAATTTTGAATTAAACTATCACTTGGTGGAATTATAGGAAGACCTTTCCCCCAACAAGATCAGTGAATATATGTGCTGCTAATCCAAAGGCAGCACGACAAATATGTTATAACCAAAAGAAATTTTATCATCAATTTACCTAGGAAATAGAGTTCAAATTCTTCTGGGTAAAATCTAATTAATTATACTACAGGGAAAAGACAGATTTATTTATTTATTTATTTATTTTGAGACGGAGTTTTTCCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCCGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGTATTACAAGCATAGGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCAACCTCAGGTGAT
Task1_train_28718
The gene MORC2 (MORC family CW-type zinc finger 2) on Chromosome 22 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Neurodevelopmental disorder
GACCTGGAATAATCATGCCATCTTCCCAGGCTCCCGAATCCAGTTATTTCCCACTCAATTCTTCTTAGGCACAGTAATAAATGCATTAAGATGAACTAGACATTAGAAGGACTAAAGCCTGACTTACCTGCATAAATATCTATTCTGGTGGCATCAGCATCTCTGCAAAGTGAAAAGAAAAGAATCATGTGAATTAATATGAAATATCAACCATCAAAATGCATAGTGATTTGAGTAGAATGCAGAGTATTTTGAGTCTGTTTTCAGGAAGCCATACAGAAATTCTATAGACATTTAGAATTTTTTTTACTTTTATACTTGACAACACAATTTTCTTTATATATCTGTAAAACATTTCTGAAGCCCCAAATTATTGAAGATGATCACATGACATGGGGCCTGGATATTTTTTTTAAATCCTGATTTTGTGGTAAAAACATCTATAGGATAAGCAAGAATATTTCCCTTTATACCCTAAGAAATGATTCAAATATGTTTTTCTCACTCATTTGATTGCAATCATAAAAAGATGTTCCAATAACTTGTCCACTTTTTCTTCTCGTCAATATTTTAAGAAAAAAGGAAGACAATAATCTCCCACAAAACCTGTGAAAAATCACTTCTCGTGGTATACACACTGCAGTCAGCAGACTGATTCCTGAGCCCATAATCTTAACCTCCCTAAACCTGAAAGGAAGTTGGGATACCCCTGCCCCATTAGACTCCAACCATTGGCTGAAATCATACAGATTCAGTTATCAATGAAGACTTCCATAAAGGCTCAGAAGTAATTTAGTCCAATTCTGCCAACTGCAAAGAAAATGAAACCGTTTCACTGGTTTTACATGCAAAAAATCCACACAGCTCTACATATACCTATTCTCAAATATCTAAAACATTTTCAAATATGAGAGATACTGGCAAAATGTATACACAAGTAGGAATACATACTCCTAAGAATCTCTATTTTACCATATGATACACAAAAAAAGCAGCCTGCCACCGCACATCATGGTCTCACTAAATTAACAAGTGGCAAATTCAAACACAGTTCCATTAACCTACAACACTTTTTAATTGAATGGAAAAATGATGAGTCAACCAGGATTGAAACAAAACAGGAGTTTTCTGGTTAAACAACTAGCACACTTCCATGAGCAGTCCAGCTAATAACAACAACAAAAGTAATTAGAATAAGTTTATTGTATACACAGAGGTAAAGAGGAAATTATCAGCGAGCACATTAACTGGAGATCTGTTTGAAAGTACTTCCGCTGTCAATTTTCATCCTCCTCTTCCTTCCTTAGTCATCAAAACCTAGTCAGTAAATGTGTCTGAATTTTATGTTTGCATTCAGGAATAAGACTAAGACACTATTTTCCTAATTATAAACAGAATCTTGATATGGACTTGGATTTACATCAGAACTAACCCAAACTTCTATTCAGTCTTACACAGTAACATTTACATGTTTCTATCACTAAGAACTCAGTATAAGACAGTGCTGACCAATGATTCCTTCCAAGCACAGCTGCTAACAATGAAAGACACTGTGATCATTTAGTTATCTGACAAATATACAATTTGAGAAGACACAGAACTTTGGCATAGTTTTAAAGACATTAGATGGTGTACTATCCTGCTAGCACAAATTAAATCAGAGCCTGCCTGTCTCATTAATATGATTCCTAAGTGTCTATCTTAATTCCTTGCATTTTACTACAATTATCTTGCTCTAATACACAAGGGAAGTGGTTTTGGAGGTGATAACTCACTATTTTTAGGCTAGAACACAAAGAACAATTAGTGAATTTAAGTAAGAAAGTGGAAGTTATCAACTAATGTGCTATTAAAAATATTATTTTTAGTAAGAGGCATCCTAGGAGTTACAGAATGTCTACATTCTACAGAAATGTCTTCCTCTCAAGTCTTCAGAGAGCAAAGGTCACAGCTACCTAAAGTGTTTCCACTTCAAGCACAGATTGTATGCCTGAAGACTACATACCTTGCATTATCAACCAGTTCAGCAAGGGCACCAAACAAGAATTCGTGAGTGGTTCTGAAATGATAAATACTAAAAGTCAGCAAAAGAATTATTGAAGTTATAATTCCTAATAAAAAGCCATGGTTATAAAATATTTAAGTTTTTTGAAAAAAATCTTAAAACCACCATTTGCATTGTTTTTATACTACTCAAGGCTTTCCAGAGCTCCCCAACTCCCCTCAATTGTTAATCTTTAACAAGTCCTGCCATCTATTCAGAAATGATTATTCTTCCTATTTTGAGTTGGGAAACCCACCCTGAAGCATTGAAAGAGTCCTATGTGTAGTAACTGCTAAAAGTGTTTTTCACTATTCATATCCTGCCTAGAAAAATGCCTGTATATTTTATTTTTCATTGCCTTAACCAGTGGTCAGTTTCTGCATATCTCAGAGCAAGAATTTTAAGGATATATCTTATGCATAAATATTGAACTTTGTTTTTTGTTTTTTCTTTGAGACAGGTTCTCATTCTTGTCACTCGGACTGGAGTATAGTAAGTTTTGAATAACATGATAACTGTGTATTTACTCAATCCAAACTTTGAGCAGCCTCCCAGAGGAGATGACCACTGGTTCCCCTCCTTGAAGGGGTTAATGTTAACAGGGGCCCTAGGCAACCACACCAAGCAAGCTCTTGTCATCCTAGAAGGAATTGTTGGAAAAGGTCTTCGATTACTTTCTTTAATGGAGGGAAAGTTCTGGTTTTAGCCAAAATCTGAGAAAGTCATAAAATGAGTTATTCTCTTTACCTTCTCTTTCAAATGGGATATTTTTGCTTATAAATTACACAAAAGTGTATGAGTTTCCTTTCTTCACTGGTAGATGACGCACAAGTATTGGTAAAACAAAATGCTAACAAGTTATACATTGAGCATGTGCAATTTACACTGTTTAATTTGTGCTCTTTTCCACAATAGTCCTCATGAGATATCAAATTAGGATGTGTCCACATAGAACCACCTAAAAAAAAAACACTTGACTTCTGATTAAATACAATATTAACCCACATAATACATGACCATCAATTTTTCAAAAATATCCATGTTACTCTGACTTTTTTGCATAGAGTTTCAGCCAAAGTAAAAAGTTTCAGCCAATTTTCAGTTAAAGTAAGAATTTTTAAATGAAATATATCAATAGTAAATAACCAGCATCTAGGATCTCTGATCGCTTACCATATTGCAAACAAAATGTAAAACATTTATTAAATAAATATCCATAACTAAACTCTCCAGGAATATTGTTTTTTCTTCCTCAAGTAACTCCAAATTTTTACAAATGCAATTTTTTTGTTTTGTTTTGTTTTTGAGACAGAGTTTCGCTCTTGTCGCCCAGGCTGGAGTGCGATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTTGGCCTCCAGAATAGCTGGGATTACAGGCATGCGCCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGAGGAGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGACTCCCAAAGTGCTGAGATTACAGACCTGAGCCACCACACACGGCCTACAAATGCAAATTTTGAATTAAACTATCACTTGGTGGAATTATAGGAAGACCTTTCCCCCAACAAGATCAGTGAATATATGTGCTGCTAATCCAAAGGCAGCACGACAAATATGTTATAACCAAAAGAAATTTTATCATCAATTTACCTAGGAAATAGAGTTCAAATTCTTCTGGGTAAAATCTAATTAATTATACTACAGGGAAAAGACAGATTTATTTATTTATTTATTTATTTTGAGACGGAGTTTTTCCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCCGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGTATTACAAGCATAGGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCAACCTCAGGTGAT
GACCTGGAATAATCATGCCATCTTCCCAGGCTCCCGAATCCAGTTATTTCCCACTCAATTCTTCTTAGGCACAGTAATAAATGCATTAAGATGAACTAGACATTAGAAGGACTAAAGCCTGACTTACCTGCATAAATATCTATTCTGGTGGCATCAGCATCTCTGCAAAGTGAAAAGAAAAGAATCATGTGAATTAATATGAAATATCAACCATCAAAATGCATAGTGATTTGAGTAGAATGCAGAGTATTTTGAGTCTGTTTTCAGGAAGCCATACAGAAATTCTATAGACATTTAGAATTTTTTTTACTTTTATACTTGACAACACAATTTTCTTTATATATCTGTAAAACATTTCTGAAGCCCCAAATTATTGAAGATGATCACATGACATGGGGCCTGGATATTTTTTTTAAATCCTGATTTTGTGGTAAAAACATCTATAGGATAAGCAAGAATATTTCCCTTTATACCCTAAGAAATGATTCAAATATGTTTTTCTCACTCATTTGATTGCAATCATAAAAAGATGTTCCAATAACTTGTCCACTTTTTCTTCTCGTCAATATTTTAAGAAAAAAGGAAGACAATAATCTCCCACAAAACCTGTGAAAAATCACTTCTCGTGGTATACACACTGCAGTCAGCAGACTGATTCCTGAGCCCATAATCTTAACCTCCCTAAACCTGAAAGGAAGTTGGGATACCCCTGCCCCATTAGACTCCAACCATTGGCTGAAATCATACAGATTCAGTTATCAATGAAGACTTCCATAAAGGCTCAGAAGTAATTTAGTCCAATTCTGCCAACTGCAAAGAAAATGAAACCGTTTCACTGGTTTTACATGCAAAAAATCCACACAGCTCTACATATACCTATTCTCAAATATCTAAAACATTTTCAAATATGAGAGATACTGGCAAAATGTATACACAAGTAGGAATACATACTCCTAAGAATCTCTATTTTACCATATGATACACAAAAAAAGCAGCCTGCCACCGCACATCATGGTCTCACTAAATTAACAAGTGGCAAATTCAAACACAGTTCCATTAACCTACAACACTTTTTAATTGAATGGAAAAATGATGAGTCAACCAGGATTGAAACAAAACAGGAGTTTTCTGGTTAAACAACTAGCACACTTCCATGAGCAGTCCAGCTAATAACAACAACAAAAGTAATTAGAATAAGTTTATTGTATACACAGAGGTAAAGAGGAAATTATCAGCGAGCACATTAACTGGAGATCTGTTTGAAAGTACTTCCGCTGTCAATTTTCATCCTCCTCTTCCTTCCTTAGTCATCAAAACCTAGTCAGTAAATGTGTCTGAATTTTATGTTTGCATTCAGGAATAAGACTAAGACACTATTTTCCTAATTATAAACAGAATCTTGATATGGACTTGGATTTACATCAGAACTAACCCAAACTTCTATTCAGTCTTACACAGTAACATTTACATGTTTCTATCACTAAGAACTCAGTATAAGACAGTGCTGACCAATGATTCCTTCCAAGCACAGCTGCTAACAATGAAAGACACTGTGATCATTTAGTTATCTGACAAATATACAATTTGAGAAGACACAGAACTTTGGCATAGTTTTAAAGACATTAGATGGTGTACTATCCTGCTAGCACAAATTAAATCAGAGCCTGCCTGTCTCATTAATATGATTCCTAAGTGTCTATCTTAATTCCTTGCATTTTACTACAATTATCTTGCTCTAATACACAAGGGAAGTGGTTTTGGAGGTGATAACTCACTATTTTTAGGCTAGAACACAAAGAACAATTAGTGAATTTAAGTAAGAAAGTGGAAGTTATCAACTAATGTGCTATTAAAAATATTATTTTTAGTAAGAGGCATCCTAGGAGTTACAGAATGTCTACATTCTACAGAAATGTCTTCCTCTCAAGTCTTCAGAGAGCAAAGGTCACAGCTACCTAAAGTGTTTCCACTTCAAGCACAGATTGTATGCCTGAAGACTACATACCTTGCATTATCAACCAGTTCAGCAAGGGCACCAAACAAGAATTTGTGAGTGGTTCTGAAATGATAAATACTAAAAGTCAGCAAAAGAATTATTGAAGTTATAATTCCTAATAAAAAGCCATGGTTATAAAATATTTAAGTTTTTTGAAAAAAATCTTAAAACCACCATTTGCATTGTTTTTATACTACTCAAGGCTTTCCAGAGCTCCCCAACTCCCCTCAATTGTTAATCTTTAACAAGTCCTGCCATCTATTCAGAAATGATTATTCTTCCTATTTTGAGTTGGGAAACCCACCCTGAAGCATTGAAAGAGTCCTATGTGTAGTAACTGCTAAAAGTGTTTTTCACTATTCATATCCTGCCTAGAAAAATGCCTGTATATTTTATTTTTCATTGCCTTAACCAGTGGTCAGTTTCTGCATATCTCAGAGCAAGAATTTTAAGGATATATCTTATGCATAAATATTGAACTTTGTTTTTTGTTTTTTCTTTGAGACAGGTTCTCATTCTTGTCACTCGGACTGGAGTATAGTAAGTTTTGAATAACATGATAACTGTGTATTTACTCAATCCAAACTTTGAGCAGCCTCCCAGAGGAGATGACCACTGGTTCCCCTCCTTGAAGGGGTTAATGTTAACAGGGGCCCTAGGCAACCACACCAAGCAAGCTCTTGTCATCCTAGAAGGAATTGTTGGAAAAGGTCTTCGATTACTTTCTTTAATGGAGGGAAAGTTCTGGTTTTAGCCAAAATCTGAGAAAGTCATAAAATGAGTTATTCTCTTTACCTTCTCTTTCAAATGGGATATTTTTGCTTATAAATTACACAAAAGTGTATGAGTTTCCTTTCTTCACTGGTAGATGACGCACAAGTATTGGTAAAACAAAATGCTAACAAGTTATACATTGAGCATGTGCAATTTACACTGTTTAATTTGTGCTCTTTTCCACAATAGTCCTCATGAGATATCAAATTAGGATGTGTCCACATAGAACCACCTAAAAAAAAAACACTTGACTTCTGATTAAATACAATATTAACCCACATAATACATGACCATCAATTTTTCAAAAATATCCATGTTACTCTGACTTTTTTGCATAGAGTTTCAGCCAAAGTAAAAAGTTTCAGCCAATTTTCAGTTAAAGTAAGAATTTTTAAATGAAATATATCAATAGTAAATAACCAGCATCTAGGATCTCTGATCGCTTACCATATTGCAAACAAAATGTAAAACATTTATTAAATAAATATCCATAACTAAACTCTCCAGGAATATTGTTTTTTCTTCCTCAAGTAACTCCAAATTTTTACAAATGCAATTTTTTTGTTTTGTTTTGTTTTTGAGACAGAGTTTCGCTCTTGTCGCCCAGGCTGGAGTGCGATGGCACAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTTGGCCTCCAGAATAGCTGGGATTACAGGCATGCGCCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGAGGAGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGACTCCCAAAGTGCTGAGATTACAGACCTGAGCCACCACACACGGCCTACAAATGCAAATTTTGAATTAAACTATCACTTGGTGGAATTATAGGAAGACCTTTCCCCCAACAAGATCAGTGAATATATGTGCTGCTAATCCAAAGGCAGCACGACAAATATGTTATAACCAAAAGAAATTTTATCATCAATTTACCTAGGAAATAGAGTTCAAATTCTTCTGGGTAAAATCTAATTAATTATACTACAGGGAAAAGACAGATTTATTTATTTATTTATTTATTTTGAGACGGAGTTTTTCCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCCGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGTATTACAAGCATAGGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCAACCTCAGGTGAT
Task1_train_28719
This variant affects the gene SLC5A1 (solute carrier family 5 member 1) found on Chromosome 22. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Congenital glucose-galactose malabsorption
ATCTCTGTCATTGGTCAGGAAGCTCTGTGAGGGCAAGAGCTCTGTGTCTTTTCATAGCTGTATTCCAGGGTCGGTACATATGATCTGGCACATAGAAGCTGCTCTTTTGTTGTAAGAATAAATGAATGAATGAATGGATGCATTTTCTGACCTCTACCTGGGCACCATCCTTTCCTTTCTTTTCCCATTTATGTTTGGCTCTCCTAAAAGATCAAAGAATGGCTCTGTCCCTCCTTTGAAGTCCTTTAGTACTTCCAGTTCTCTCTCCTGCTCGCTTCACTTTCTATGCCTTGTACTTTTGGAACTTGGCATGGCCTGGCTGCCTGCACCTGCACCTGGGTTCAGGGCTGGACTTTTCCTGTGGGTGGGTTCACTTCCAGACTAGAACAGAAGCTTCCTAAGGGCAGGGACTCTTCCTGGGATACATTCAGGTGAAAAAACTTGGCTGAATGCAGGAATGAATGAACACAGGCAAAAGGCGAGTTGCTCCAAGCTGCAGCTGACAGCTGAGCTCTAAGTCTTGGGAGGCATCCACAGCAGACAGCCCCTGCTTTCAGGTTCCTCGTAAGAATTCCTGCTTCCTTTGGGCAGGCATTATACTGGCCCCAGGACATAGCCTTATATAGTTTGCAGTCCTGGGGGATGTGTGGGGGAAATGGGGAAGACCTGTGGGGATGCTGTCCAAATAATGATTCTTTGTCTGCAGCTTCAGTGGGAAGAACAGTTGCTGATACGGAAGGAGGGGAGGCAGACCTCTGAAGCATTGAGTGCAAAGGAACAGGATGCTCACATTTAGGCAGTGGGTGGTTGTCTAGCAGTGGGCAGGGAGGGCCTGAGGCAGACCAGAGTCCTGGCAGGGTTTCTGTGGTCCTCTGCCTCCCTGCACCTCCCCATCAGAGCAAGGCCCCCCTCTTTGGGAACAGTCACTTTTGGCTGCTCTGTGGCCTCTAGAGCCAGCCCCTGAGAATACCCCACAGCCCTCCCTCTGAACCCTGGCATGGGCTGCAGGGCCAGCTCTGCTGCTGGTTTCCTGTATGACCTTGGGCAAGTCATGCCTCCTCTCTTGGTCATCTCTGTTCTGAGCCCTGGCTTGCTGTTTAGACATGTGTTTCCAGATGGGTGAGCTGAGTCCCCAGGAAGGTCAGGGTTTGATGAACTCCTTGGAAAGGGTTCTCTAGTATCTTCCCTTCTGCTGCCTCTGGAGGGCCCTGCATCAATACTGGGAGAGGGACAGGGCAAGGAAATAGCTCCCGGTGAGATCCCTTCCCCCAGTCTCAGTTTCTTCCTCTTTACAGTGGGGGTAACAGTGGACCTGGGGGCTGCAGGCTGTGGAGGGGGAGTCAGGAATGTGGGTGGGTGGGTGGCTGTCCTTGTGGCCAAGAGATTAGGATTGTGCTGGTTTTTTTCCAGTGACACCCAGCAACTCTCTGTCCTCTCAAGAATGTTCTCCAGGGAGAACAAGACTTGACTGATTCTTCAGAAGAGTGCTGCACCCATTTTACAAGCGGACAAGCCAAGTCCTTAGAAGGCATGGGACTAGTCCAAGGATGGGTGGCAGGTGATCTGAAGCCTCTAGGCTCCTAGCCCCAGGTGGCCTGTTCCCTCAATGGAGCCACTCCAGCTCTGGCAAGGGCAGGTGTGGTGGCGCTGCTGGTGCCTGCTGTGGGAGTACAGTGGGCCTTTGTGCCAGGCGGGCACCACCCCCTGGCTGGCCCCTCCCCATTCGCAGGACAGCTCTTACCTGCCGGGCCGCCGCCCCAGCCAACAGCTCAGCCGGGTGCTCCTTCCTGGGCTCCACGCCCGGAGCTGCTTCCTGACGGTGCAGCCGCAAGGCATCGCAGGGGCCCCGCGCTACTGCCCTGCTCCCTCAAAGTCCCAGGTCCCCTCCCCTGGTGCTGATCATTAACCAGGAGGCCGTATAAGGAGCTAGCGGCCCTGGCGAGAGGGAAGGACGCAACGCTGCCACCATGGACAGTAGCACCTGGAGCCCCAAGACCACCGCGGTCACCCGGCCTGTTGAGACCCACGAGCTCATTCGCAATGCAGCCGATATCTCCATCATCGTTATCTACTTCGTGGTAGTGATGGCCGTCGGACTGTGGGTATGCAGCGGGTTCTGGGATGCGGGTGGGGAGGGTGCGCACAGAGGAGGAGCAATGGCCTCGCTGAGCTGCAAGGGGCAGTAGGCTTAAGTGTCGGTGGAGGGGAGAGGAAATGACTTGGAAGCACTTTAGAAGCACTCAGAGGCACAGCATGAAGGGAGGAGGGCAAGCAAGGATGAGCAGAAGTGAGAAGGGTGCCCAGGGCAGCCTGCCAGGAAGGACCAAGGAGGATACCTGAGCCTGTGAGCAGAGAAGGAAGGTGGGGGTTTGAAGAGACCGCTGGAAAGTGTAAGGGGCAGGAAAGCGGCTGCTTAGAGCTACAGGGAGGGCTCTGGGGCTTGGGAGATGAGCCTCTAGCAGGTGACTACTGTCCTACCTTTTAGTCATCCAGTTTCAGATGGGAAAGAAATGGTGTGGAGTGGGAAAGCCACAGCCTCTGCCAGCCCCAGAGATGGGGATGCTGAGGTGGCAGACAGAGGGATGCTGACCCATGCCCCACTCCTGGGAGAGGCTAACCCAGAGGCCTTGTGCATGAGGATCCCAGGGGCTGGATCAAGTTAGAGATGAGAAAGATGGGTGGAAAAGGAGGAGGAGGAAGACCTGGGGGTGACCTGGCACTGGGGAGAGGGAAATGTGTGTGTCTCCTTTTGGGACTCTGGGGACACAGCAAACCAGAGAAACTTGTTCTCAGCCACCTGGAACATGGGCATTTCACTTATGACAGACTGTGGCAGGCCCAACAACTAGAGGAGGAGATGTTTTAAAAGTGTGCAGGACCGACTGTGGTGGTTCACTCCTGTAATCCTAGCACTTTGAGAGGCCAAGGTGGGAGGATTGCTTGAGTCCAGGAGTTCGAGATCAGCCTGGGCAACATAGTGAGACTCTGTCTCTACAAAAATAAAAAAAATTACAAAAAATATATAAAATGTTTGCAGATGTTCCAGCCATTCTCGTGATTGTTATGGAGGTGGAGGTGATAAGCCCAGGGAGGCTGCTGTAGCAGCTGGTGATTGTGTTGAACTCTTTTGACTTAGAGGAGAGGAAGGTAGGCATGAACACTTCTGTGGACACAGAGCTTTTTCAGGGACAAAAGGAAGTGTTTTTTTTTTTTTTTCCAAAGGAATTGTAGAAACTAGATGTGGCAGAATGCCTCCCAAGTGTCACATGGGGTCAGTATGGCTGACTTTTCCTCAATACTCTCAGCTTCCCAGACATAGTGGAAACTGACCAACTAGGAGCCAGGATACTCAAGTTCACTACTGGCTTTCACATGGTTCAAATCATGGAACATTGGGTAACTTCCCTCAGCCTCCAGTTTACTCAACTTTAACATAGGTACACTCTTATCTATTCTAATGACTCCCCCATGGTTGTGGTGAGGATACGCAGAGGTGAATCTGAAAGCTGTTTATGGACTCTAGGATTAAAAAAAACTACTATTGTCATTTACCTTCCATGGTATGATCTGGGCTCTGAACAATGTTTATCCTTTTAAGTAAAATGGGCAGCAGTGGTCAGGTGGGTAGTATATTTTTACAAAAGCCACAAGACAGGGAAGGCCAGAATGCTAATCCCCGTTTTACAGAAGAGGAAATTGAAGCCTCATGTGGTTGTGATTTGTCTAAGGTTACAATAGATGAAATTGTTCCTGGAACTCAGATCTCTTGACTCCTGATTTTTTATGGTACCAGGCACTCTGCCACTGTGACTGACTTCCTCCTTCCACCCCACCCCAGCTTATAAGTGCTGGAGCCAAGGTGTGAGCCCGTCATCTGCTGGCTATACAGTACTGCCTGTTTCCCAGACAATCTCTGATAATATCGGTTCTCTTAACCAATCTCATTTTAGCCCTGCCAGTCTAGTAGGTGTTTATACTTTTTAAATGGTGTTTACATGTTTCAAGTATCTGTGAATCAGTATCACTTGTCCTGCTAAATGCTACTTAATAGCCTGTTTAGTATTTGTCTATGTTTAATCTTCCCCCATTAGACAAT
ATCTCTGTCATTGGTCAGGAAGCTCTGTGAGGGCAAGAGCTCTGTGTCTTTTCATAGCTGTATTCCAGGGTCGGTACATATGATCTGGCACATAGAAGCTGCTCTTTTGTTGTAAGAATAAATGAATGAATGAATGGATGCATTTTCTGACCTCTACCTGGGCACCATCCTTTCCTTTCTTTTCCCATTTATGTTTGGCTCTCCTAAAAGATCAAAGAATGGCTCTGTCCCTCCTTTGAAGTCCTTTAGTACTTCCAGTTCTCTCTCCTGCTCGCTTCACTTTCTATGCCTTGTACTTTTGGAACTTGGCATGGCCTGGCTGCCTGCACCTGCACCTGGGTTCAGGGCTGGACTTTTCCTGTGGGTGGGTTCACTTCCAGACTAGAACAGAAGCTTCCTAAGGGCAGGGACTCTTCCTGGGATACATTCAGGTGAAAAAACTTGGCTGAATGCAGGAATGAATGAACACAGGCAAAAGGCGAGTTGCTCCAAGCTGCAGCTGACAGCTGAGCTCTAAGTCTTGGGAGGCATCCACAGCAGACAGCCCCTGCTTTCAGGTTCCTCGTAAGAATTCCTGCTTCCTTTGGGCAGGCATTATACTGGCCCCAGGACATAGCCTTATATAGTTTGCAGTCCTGGGGGATGTGTGGGGGAAATGGGGAAGACCTGTGGGGATGCTGTCCAAATAATGATTCTTTGTCTGCAGCTTCAGTGGGAAGAACAGTTGCTGATACGGAAGGAGGGGAGGCAGACCTCTGAAGCATTGAGTGCAAAGGAACAGGATGCTCACATTTAGGCAGTGGGTGGTTGTCTAGCAGTGGGCAGGGAGGGCCTGAGGCAGACCAGAGTCCTGGCAGGGTTTCTGTGGTCCTCTGCCTCCCTGCACCTCCCCATCAGAGCAAGGCCCCCCTCTTTGGGAACAGTCACTTTTGGCTGCTCTGTGGCCTCTAGAGCCAGCCCCTGAGAATACCCCACAGCCCTCCCTCTGAACCCTGGCATGGGCTGCAGGGCCAGCTCTGCTGCTGGTTTCCTGTATGACCTTGGGCAAGTCATGCCTCCTCTCTTGGTCATCTCTGTTCTGAGCCCTGGCTTGCTGTTTAGACATGTGTTTCCAGATGGGTGAGCTGAGTCCCCAGGAAGGTCAGGGTTTGATGAACTCCTTGGAAAGGGTTCTCTAGTATCTTCCCTTCTGCTGCCTCTGGAGGGCCCTGCATCAATACTGGGAGAGGGACAGGGCAAGGAAATAGCTCCCGGTGAGATCCCTTCCCCCAGTCTCAGTTTCTTCCTCTTTACAGTGGGGGTAACAGTGGACCTGGGGGCTGCAGGCTGTGGAGGGGGAGTCAGGAATGTGGGTGGGTGGGTGGCTGTCCTTGTGGCCAAGAGATTAGGATTGTGCTGGTTTTTTTCCAGTGACACCCAGCAACTCTCTGTCCTCTCAAGAATGTTCTCCAGGGAGAACAAGACTTGACTGATTCTTCAGAAGAGTGCTGCACCCATTTTACAAGCGGACAAGCCAAGTCCTTAGAAGGCATGGGACTAGTCCAAGGATGGGTGGCAGGTGATCTGAAGCCTCTAGGCTCCTAGCCCCAGGTGGCCTGTTCCCTCAATGGAGCCACTCCAGCTCTGGCAAGGGCAGGTGTGGTGGCGCTGCTGGTGCCTGCTGTGGGAGTACAGTGGGCCTTTGTGCCAGGCGGGCACCACCCCCTGGCTGGCCCCTCCCCATTCGCAGGACAGCTCTTACCTGCCGGGCCGCCGCCCCAGCCAACAGCTCAGCCGGGTGCTCCTTCCTGGGCTCCACGCCCGGAGCTGCTTCCTGACGGTGCAGCCGCAAGGCATCGCAGGGGCCCCGCGCTACTGCCCTGCTCCCTCAAAGTCCCAGGTCCCCTCCCCTGGTGCTGATCATTAACCAGGAGGCCGTATAAGGAGCTAGCGGCCCTGGCGAGAGGGAAGGACGCAACGCTGCCACCATGGACAGTAGCACCTGGAGCCCCAAGACCACCGCGGTCACCCGGCCTGTTGAGACCCACGAGCTCATTCGCAATGCAGCCAATATCTCCATCATCGTTATCTACTTCGTGGTAGTGATGGCCGTCGGACTGTGGGTATGCAGCGGGTTCTGGGATGCGGGTGGGGAGGGTGCGCACAGAGGAGGAGCAATGGCCTCGCTGAGCTGCAAGGGGCAGTAGGCTTAAGTGTCGGTGGAGGGGAGAGGAAATGACTTGGAAGCACTTTAGAAGCACTCAGAGGCACAGCATGAAGGGAGGAGGGCAAGCAAGGATGAGCAGAAGTGAGAAGGGTGCCCAGGGCAGCCTGCCAGGAAGGACCAAGGAGGATACCTGAGCCTGTGAGCAGAGAAGGAAGGTGGGGGTTTGAAGAGACCGCTGGAAAGTGTAAGGGGCAGGAAAGCGGCTGCTTAGAGCTACAGGGAGGGCTCTGGGGCTTGGGAGATGAGCCTCTAGCAGGTGACTACTGTCCTACCTTTTAGTCATCCAGTTTCAGATGGGAAAGAAATGGTGTGGAGTGGGAAAGCCACAGCCTCTGCCAGCCCCAGAGATGGGGATGCTGAGGTGGCAGACAGAGGGATGCTGACCCATGCCCCACTCCTGGGAGAGGCTAACCCAGAGGCCTTGTGCATGAGGATCCCAGGGGCTGGATCAAGTTAGAGATGAGAAAGATGGGTGGAAAAGGAGGAGGAGGAAGACCTGGGGGTGACCTGGCACTGGGGAGAGGGAAATGTGTGTGTCTCCTTTTGGGACTCTGGGGACACAGCAAACCAGAGAAACTTGTTCTCAGCCACCTGGAACATGGGCATTTCACTTATGACAGACTGTGGCAGGCCCAACAACTAGAGGAGGAGATGTTTTAAAAGTGTGCAGGACCGACTGTGGTGGTTCACTCCTGTAATCCTAGCACTTTGAGAGGCCAAGGTGGGAGGATTGCTTGAGTCCAGGAGTTCGAGATCAGCCTGGGCAACATAGTGAGACTCTGTCTCTACAAAAATAAAAAAAATTACAAAAAATATATAAAATGTTTGCAGATGTTCCAGCCATTCTCGTGATTGTTATGGAGGTGGAGGTGATAAGCCCAGGGAGGCTGCTGTAGCAGCTGGTGATTGTGTTGAACTCTTTTGACTTAGAGGAGAGGAAGGTAGGCATGAACACTTCTGTGGACACAGAGCTTTTTCAGGGACAAAAGGAAGTGTTTTTTTTTTTTTTTCCAAAGGAATTGTAGAAACTAGATGTGGCAGAATGCCTCCCAAGTGTCACATGGGGTCAGTATGGCTGACTTTTCCTCAATACTCTCAGCTTCCCAGACATAGTGGAAACTGACCAACTAGGAGCCAGGATACTCAAGTTCACTACTGGCTTTCACATGGTTCAAATCATGGAACATTGGGTAACTTCCCTCAGCCTCCAGTTTACTCAACTTTAACATAGGTACACTCTTATCTATTCTAATGACTCCCCCATGGTTGTGGTGAGGATACGCAGAGGTGAATCTGAAAGCTGTTTATGGACTCTAGGATTAAAAAAAACTACTATTGTCATTTACCTTCCATGGTATGATCTGGGCTCTGAACAATGTTTATCCTTTTAAGTAAAATGGGCAGCAGTGGTCAGGTGGGTAGTATATTTTTACAAAAGCCACAAGACAGGGAAGGCCAGAATGCTAATCCCCGTTTTACAGAAGAGGAAATTGAAGCCTCATGTGGTTGTGATTTGTCTAAGGTTACAATAGATGAAATTGTTCCTGGAACTCAGATCTCTTGACTCCTGATTTTTTATGGTACCAGGCACTCTGCCACTGTGACTGACTTCCTCCTTCCACCCCACCCCAGCTTATAAGTGCTGGAGCCAAGGTGTGAGCCCGTCATCTGCTGGCTATACAGTACTGCCTGTTTCCCAGACAATCTCTGATAATATCGGTTCTCTTAACCAATCTCATTTTAGCCCTGCCAGTCTAGTAGGTGTTTATACTTTTTAAATGGTGTTTACATGTTTCAAGTATCTGTGAATCAGTATCACTTGTCCTGCTAAATGCTACTTAATAGCCTGTTTAGTATTTGTCTATGTTTAATCTTCCCCCATTAGACAAT
Task1_train_28720
Chromosome 22 houses a mutation in gene SLC5A1 (solute carrier family 5 member 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Congenital glucose-galactose malabsorption
GAGCCCCTGTAAGGAGGGAGAAAGGCAGTGACTCACACACAGAGGTTTCAGAAGAGGACTCAAGTGGCCACCCAAGAAGCTGGTGCATAAATAGCAATTGGGGCTCCTTTGCAGAGGGGTCACTCTGCCTCCTTGGTGGGGGTGGGAGGGATCAGCTTTAGAACTTGCTGCTTGACTGCAGCCCCACAGCTTTGGGGACTAAGAAAAAGGTAGACATATGTCCCACCATCTCCACAGCCAGCTCTTTGCTCCTCCCTGCCTTGTGTGTGGAAGACGCTTCTTCTTACCACAGAGGAGTCATCTCCTTTGAGCCATCTTCTGGCTCAAAAGGGTCACACCAGACTCTTTCCCCTCAAGTAGGGAGAAACATTCGCCACTTCTATGACAGGTGGAGCTGTGGGAACATGCTGAATAGCAAAATACTGTAACAGGACAAGGGAGGGAAGGAAGGAGAGGCAGGCAAACCACTGTGGGGATGTTCTCAGAAGGCCAGCAGAAGTAGAGGGTGGAGAGTGGGGAAGGAAGCAAGTAGACAGGTCACCCTCCACACGAGGTCAGATGTGTTGTCTTCTTGCCTGCTTAGGGGGCCTGGCGGCGGTGATTTACACGGACACCTTGCAGACGGTGATCATGCTGGTGGGGTCTTTAATCCTGACTGGGTTTGGTAAGTGGGGCCAGGGCAGGCTGAGGAGGTGGGAGCAGAGGTAGAGGGCCTCAGGAAGAGGAAGGCAAGTCCAGCCTCTCTACCTGCTTGCCAGACTAGGCAGTGAGCTGAGGCATGCTCTGCCCTTCCAAACGGAGGGTCCAGCCCAGATGGGCTGTCATTGTGGGTATGCAGGGTCAGCTTCCTTATCCCTGGAAGACTGAAGCTGGGGCTGGTCCTGGATTTTCTGCTGCCCTCTCTCACCAGTCTGGGCTAGTGGTTGTGCTGTGAGCCTGTGATAACATGGTGTTCTGTTTGCAGAGAAACTGGACAAAAAAGGATAAGGCTAAATATCCATCAAGCTAAATCTAGTCAAATGTTGCGTCTTCCATCTTAGGCTATATCTTATCTACATTTTGATGTCAAATATCCTTTCTTTTATGAATTGTTGATAGTGGGTGATAATGTTCCTTTTAATGCCCCTATTTGGCAAAATTAAAAACTTGGCTCCTCAGGGTTGGCCCTCCAATTAATTTTTTTTTTTTTTGCAATTTTACTTGTCTATGAAATCTTAAAGATGAGACTGGAGAACCTAGGTAAGGGTACTTATTATGGGAGGATAGAAAGTACATTTTATTTCTAGGTGCTCAAGGCCCACTGTGTATCCTGCAAAAACTTGTATTTGCTCTCCACTCTTCTGTTTTCTAAGGACTTTCATTTGGTTCTCCCCAGCAGGCCTTGGGTGTTAGCTAGGCAGGCAGTGGAATGACTTATTCAAGGACACACAATTGAGAGGTGGCAGGTTCTGGATTCCTCACCCATTCCCTGTCCATCCCACCACATGCTGGGTCCAGGAGTGGTAGGTGTGGGTCTGAGGTCCCAAAGGCCACTGTGTGTGTCTAGGTCTGTGTGTCTCTAGGCCTGAGTCCAAGGCTCCAAAGGCCATGGCTGACAGCAGAGGGTGAGGGAAAAAACAGAGTCTTTGTATGTGGTCCCAAACCAAGGTCTTTCTTTGATTAATAAAAGTCCCTTCCCTTTTACAAAGAGGTTTACAGTTGGAGTACTTTTACAAGTGATTGCTTTGGTCCCCATAATAGCCCCCAAGGGGGCTGGGCAGGGCTACTAATCTCATTCTATGGATGACAAAGCTGAGGCCCAGAATGGGAAGGTGATTTGCCCAAGGCCACTCAGTGAGGGCTCTGTCTGTGGGTTGGGTCCTCTCAGTTTCTCAGGCATCTATGGAAAGAAGCTGCTATGACGAGTTGAAGGTTTCAGAATGTTCATTTCTGTACCGATGTTTTCCAGCTTTTCACGAAGTGGGAGGCTATGACGCCTTCATGGAAAAGTACATGAAAGCCATTCCAACCATAGTGTCTGATGGCAACACCACCTTTCAGGAAAAATGCTACACTCCAAGGGCCGACTCCTTCCACATCTTCCGAGATCCCCTCACGGGAGACCTCCCATGGCCTGGGTTCATCTTTGGGATGTCCATCCTTACCTTGTGGTACTGGTGCACAGATCAGGTACCCAAGCTGGATGTGCGGGATGGACAGAGTCTTCTCCAGGGCCCTACAGGAACTCCTGTCTGTCTGTGGTTTGCAGGGTTGGGACAGGGAGGGGAGAGCTCAGGTGGTTTGTAAGTTGCCACGCCCCAGTGATACAGCAGTGCCAGGCCAATGACCCAAGATGGCGAAGCTAGGAAGTACAAAGGTGTCACAGGGTCTCTGGTCTGCACACCTCCCTTACTGGGCTTTTTCTGGCAGGTCATTGTGCAGCGCTGCCTCTCAGCCAAGAATATGTCTCACGTGAAGGGTGGCTGCATCCTGTGTGGGTATCTAAAGCTGATGCCCATGTTCATCATGGTGATGCCAGGAATGATCAGCCGCATTCTGTACACAGGTAATAACTTCTGCTGGACCCACAAACCACTCTCCCTTTTTCTGTCTCCAAGTCACTTCTAAAGCTCTATAGCTTCCCGCTTCCTCCTCTTTTTTTTTGAGACCAGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCATTGCTCACTGCAGTCTCCAACTCTAACTCCTGGGCCCTAGTGACCTTCCTGCTTCAGCCTCCTGAGCAGCTGGGACTACAGGTATGTACCACCATGCCTGCCTAATTTTTAATTTTTTTTTTTGTAGCGATGGGATTTTGCTATGTTGCTCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCTGCCTTGGCCTTCCAAAGTGCTGGGATTATAGGCATAAGCCACCACGCCTGGCCCTCTTCTTTATTTGTTATGGTCATATCCAAGCATTATTGCTCCTGTGCTAGACAGTGAGCAACTTGAGGGAACTTTTGGAGTTGTCTTCCCTGGTTTCTTATGTCGACAATTGTTTCCTCCTTTTTTTTTTTTTTTTTTTTCAAATCTTCTAAAGTTATGACATGCCTCCAGGTCACTTCTCCCTAATAATATTTGCTCAATTGTTGCTTAATCTCTTGCTGTCATCCTTCCACCCTGAATGTTTCTTTGATTTCTTTCCTCCGTTGCCTAGAAATTGTCTTTCTTCCTTAGTCAGAGCTCATCAGTGTGTCAGGGCCAGCAGGGCGGGGCAGGCACCAAAGGGTTCTGTGGAGAGCTGCACTCCTGAGGAACCATTTCAGAGCCTTGGAAAGGAATATCCTGTTTGAAACCTTGTTTTAAGAAGGTGAATTTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCTATCTCTACTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCTACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAGAAGGTGAATTTTGGAAATATTTCCCCAATGTCTGCTTGCTGACGTGGCTCTCCATCTCTTCCCAGAAAAAATTGCCTGTGTCGTCCCTTCAGAATGTGAGAAATATTGCGGTACCAAGGTTGGCTGTACCAACATCGCCTATCCAACCTTAGTGGTGGAGCTCATGCCCAATGGTGAGATTCTTTCTTGGGAGGTTGGTAGAGTCTTTCTTGGGAGGCTGATTGGGTTTAGGCACCACCTACATTCCTGTGAACCTTCTGGGCAAAGACATTTCTTAGCCGGGGGGTTAGAAGGGAAAGCATCATTGTGGGTGTCCTCAGTTTTTGGACATGTCCTCTCTCAGTGGGAAGGAGACATATGACTTGGTTGGGTTCTATGAGTTCTGGGACTTGCCCATCAGTCAGGCTTGGAAAGGAGATGATCTGAAAACTT
GAGCCCCTGTAAGGAGGGAGAAAGGCAGTGACTCACACACAGAGGTTTCAGAAGAGGACTCAAGTGGCCACCCAAGAAGCTGGTGCATAAATAGCAATTGGGGCTCCTTTGCAGAGGGGTCACTCTGCCTCCTTGGTGGGGGTGGGAGGGATCAGCTTTAGAACTTGCTGCTTGACTGCAGCCCCACAGCTTTGGGGACTAAGAAAAAGGTAGACATATGTCCCACCATCTCCACAGCCAGCTCTTTGCTCCTCCCTGCCTTGTGTGTGGAAGACGCTTCTTCTTACCACAGAGGAGTCATCTCCTTTGAGCCATCTTCTGGCTCAAAAGGGTCACACCAGACTCTTTCCCCTCAAGTAGGGAGAAACATTCGCCACTTCTATGACAGGTGGAGCTGTGGGAACATGCTGAATAGCAAAATACTGTAACAGGACAAGGGAGGGAAGGAAGGAGAGGCAGGCAAACCACTGTGGGGATGTTCTCAGAAGGCCAGCAGAAGTAGAGGGTGGAGAGTGGGGAAGGAAGCAAGTAGACAGGTCACCCTCCACACGAGGTCAGATGTGTTGTCTTCTTGCCTGCTTAGGGGGCCTGGCGGCGGTGATTTACACGGACACCTTGCAGACGGTGATCATGCTGGTGGGGTCTTTAATCCTGACTGGGTTTGGTAAGTGGGGCCAGGGCAGGCTGAGGAGGTGGGAGCAGAGGTAGAGGGCCTCAGGAAGAGGAAGGCAAGTCCAGCCTCTCTACCTGCTTGCCAGACTAGGCAGTGAGCTGAGGCATGCTCTGCCCTTCCAAACGGAGGGTCCAGCCCAGATGGGCTGTCATTGTGGGTATGCAGGGTCAGCTTCCTTATCCCTGGAAGACTGAAGCTGGGGCTGGTCCTGGATTTTCTGCTGCCCTCTCTCACCAGTCTGGGCTAGTGGTTGTGCTGTGAGCCTGTGATAACATGGTGTTCTGTTTGCAGAGAAACTGGACAAAAAAGGATAAGGCTAAATATCCATCAAGCTAAATCTAGTCAAATGTTGCGTCTTCCATCTTAGGCTATATCTTATCTACATTTTGATGTCAAATATCCTTTCTTTTATGAATTGTTGATAGTGGGTGATAATGTTCCTTTTAATGCCCCTATTTGGCAAAATTAAAAACTTGGCTCCTCAGGGTTGGCCCTCCAATTAATTTTTTTTTTTTTTGCAATTTTACTTGTCTATGAAATCTTAAAGATGAGACTGGAGAACCTAGGTAAGGGTACTTATTATGGGAGGATAGAAAGTACATTTTATTTCTAGGTGCTCAAGGCCCACTGTGTATCCTGCAAAAACTTGTATTTGCTCTCCACTCTTCTGTTTTCTAAGGACTTTCATTTGGTTCTCCCCAGCAGGCCTTGGGTGTTAGCTAGGCAGGCAGTGGAATGACTTATTCAAGGACACACAATTGAGAGGTGGCAGGTTCTGGATTCCTCACCCATTCCCTGTCCATCCCACCACATGCTGGGTCCAGGAGTGGTAGGTGTGGGTCTGAGGTCCCAAAGGCCACTGTGTGTGTCTAGGTCTGTGTGTCTCTAGGCCTGAGTCCAAGGCTCCAAAGGCCATGGCTGACAGCAGAGGGTGAGGGAAAAAACAGAGTCTTTGTATGTGGTCCCAAACCAAGGTCTTTCTTTGATTAATAAAAGTCCCTTCCCTTTTACAAAGAGGTTTACAGTTGGAGTACTTTTACAAGTGATTGCTTTGGTCCCCATAATAGCCCCCAAGGGGGCTGGGCAGGGCTACTAATCTCATTCTATGGATGACAAAGCTGAGGCCCAGAATGGGAAGGTGATTTGCCCAAGGCCACTCAGTGAGGGCTCTGTCTGTGGGTTGGGTCCTCTCAGTTTCTCAGGCATCTATGGAAAGAAGCTGCTATGACGAGTTGAAGGTTTCAGAATGTTCATTTCTGTACCGATGTTTTCCAGCTTTTCACGAAGTGGGAGGCTATGACGCCTTCATGGAAAAGTACATGAAAGCCATTCCAACCATAGTGTCTGATGGCAACACCACCTTTCAGGAAAAATGGTACACTCCAAGGGCCGACTCCTTCCACATCTTCCGAGATCCCCTCACGGGAGACCTCCCATGGCCTGGGTTCATCTTTGGGATGTCCATCCTTACCTTGTGGTACTGGTGCACAGATCAGGTACCCAAGCTGGATGTGCGGGATGGACAGAGTCTTCTCCAGGGCCCTACAGGAACTCCTGTCTGTCTGTGGTTTGCAGGGTTGGGACAGGGAGGGGAGAGCTCAGGTGGTTTGTAAGTTGCCACGCCCCAGTGATACAGCAGTGCCAGGCCAATGACCCAAGATGGCGAAGCTAGGAAGTACAAAGGTGTCACAGGGTCTCTGGTCTGCACACCTCCCTTACTGGGCTTTTTCTGGCAGGTCATTGTGCAGCGCTGCCTCTCAGCCAAGAATATGTCTCACGTGAAGGGTGGCTGCATCCTGTGTGGGTATCTAAAGCTGATGCCCATGTTCATCATGGTGATGCCAGGAATGATCAGCCGCATTCTGTACACAGGTAATAACTTCTGCTGGACCCACAAACCACTCTCCCTTTTTCTGTCTCCAAGTCACTTCTAAAGCTCTATAGCTTCCCGCTTCCTCCTCTTTTTTTTTGAGACCAGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCATTGCTCACTGCAGTCTCCAACTCTAACTCCTGGGCCCTAGTGACCTTCCTGCTTCAGCCTCCTGAGCAGCTGGGACTACAGGTATGTACCACCATGCCTGCCTAATTTTTAATTTTTTTTTTTGTAGCGATGGGATTTTGCTATGTTGCTCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCTGCCTTGGCCTTCCAAAGTGCTGGGATTATAGGCATAAGCCACCACGCCTGGCCCTCTTCTTTATTTGTTATGGTCATATCCAAGCATTATTGCTCCTGTGCTAGACAGTGAGCAACTTGAGGGAACTTTTGGAGTTGTCTTCCCTGGTTTCTTATGTCGACAATTGTTTCCTCCTTTTTTTTTTTTTTTTTTTTCAAATCTTCTAAAGTTATGACATGCCTCCAGGTCACTTCTCCCTAATAATATTTGCTCAATTGTTGCTTAATCTCTTGCTGTCATCCTTCCACCCTGAATGTTTCTTTGATTTCTTTCCTCCGTTGCCTAGAAATTGTCTTTCTTCCTTAGTCAGAGCTCATCAGTGTGTCAGGGCCAGCAGGGCGGGGCAGGCACCAAAGGGTTCTGTGGAGAGCTGCACTCCTGAGGAACCATTTCAGAGCCTTGGAAAGGAATATCCTGTTTGAAACCTTGTTTTAAGAAGGTGAATTTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCTATCTCTACTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCTACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAGAAGGTGAATTTTGGAAATATTTCCCCAATGTCTGCTTGCTGACGTGGCTCTCCATCTCTTCCCAGAAAAAATTGCCTGTGTCGTCCCTTCAGAATGTGAGAAATATTGCGGTACCAAGGTTGGCTGTACCAACATCGCCTATCCAACCTTAGTGGTGGAGCTCATGCCCAATGGTGAGATTCTTTCTTGGGAGGTTGGTAGAGTCTTTCTTGGGAGGCTGATTGGGTTTAGGCACCACCTACATTCCTGTGAACCTTCTGGGCAAAGACATTTCTTAGCCGGGGGGTTAGAAGGGAAAGCATCATTGTGGGTGTCCTCAGTTTTTGGACATGTCCTCTCTCAGTGGGAAGGAGACATATGACTTGGTTGGGTTCTATGAGTTCTGGGACTTGCCCATCAGTCAGGCTTGGAAAGGAGATGATCTGAAAACTT
Task1_train_28721
Given this context: Chromosome 22, gene SLC5A1 (solute carrier family 5 member 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Congenital glucose-galactose malabsorption
GCAGAGGGGTCACTCTGCCTCCTTGGTGGGGGTGGGAGGGATCAGCTTTAGAACTTGCTGCTTGACTGCAGCCCCACAGCTTTGGGGACTAAGAAAAAGGTAGACATATGTCCCACCATCTCCACAGCCAGCTCTTTGCTCCTCCCTGCCTTGTGTGTGGAAGACGCTTCTTCTTACCACAGAGGAGTCATCTCCTTTGAGCCATCTTCTGGCTCAAAAGGGTCACACCAGACTCTTTCCCCTCAAGTAGGGAGAAACATTCGCCACTTCTATGACAGGTGGAGCTGTGGGAACATGCTGAATAGCAAAATACTGTAACAGGACAAGGGAGGGAAGGAAGGAGAGGCAGGCAAACCACTGTGGGGATGTTCTCAGAAGGCCAGCAGAAGTAGAGGGTGGAGAGTGGGGAAGGAAGCAAGTAGACAGGTCACCCTCCACACGAGGTCAGATGTGTTGTCTTCTTGCCTGCTTAGGGGGCCTGGCGGCGGTGATTTACACGGACACCTTGCAGACGGTGATCATGCTGGTGGGGTCTTTAATCCTGACTGGGTTTGGTAAGTGGGGCCAGGGCAGGCTGAGGAGGTGGGAGCAGAGGTAGAGGGCCTCAGGAAGAGGAAGGCAAGTCCAGCCTCTCTACCTGCTTGCCAGACTAGGCAGTGAGCTGAGGCATGCTCTGCCCTTCCAAACGGAGGGTCCAGCCCAGATGGGCTGTCATTGTGGGTATGCAGGGTCAGCTTCCTTATCCCTGGAAGACTGAAGCTGGGGCTGGTCCTGGATTTTCTGCTGCCCTCTCTCACCAGTCTGGGCTAGTGGTTGTGCTGTGAGCCTGTGATAACATGGTGTTCTGTTTGCAGAGAAACTGGACAAAAAAGGATAAGGCTAAATATCCATCAAGCTAAATCTAGTCAAATGTTGCGTCTTCCATCTTAGGCTATATCTTATCTACATTTTGATGTCAAATATCCTTTCTTTTATGAATTGTTGATAGTGGGTGATAATGTTCCTTTTAATGCCCCTATTTGGCAAAATTAAAAACTTGGCTCCTCAGGGTTGGCCCTCCAATTAATTTTTTTTTTTTTTGCAATTTTACTTGTCTATGAAATCTTAAAGATGAGACTGGAGAACCTAGGTAAGGGTACTTATTATGGGAGGATAGAAAGTACATTTTATTTCTAGGTGCTCAAGGCCCACTGTGTATCCTGCAAAAACTTGTATTTGCTCTCCACTCTTCTGTTTTCTAAGGACTTTCATTTGGTTCTCCCCAGCAGGCCTTGGGTGTTAGCTAGGCAGGCAGTGGAATGACTTATTCAAGGACACACAATTGAGAGGTGGCAGGTTCTGGATTCCTCACCCATTCCCTGTCCATCCCACCACATGCTGGGTCCAGGAGTGGTAGGTGTGGGTCTGAGGTCCCAAAGGCCACTGTGTGTGTCTAGGTCTGTGTGTCTCTAGGCCTGAGTCCAAGGCTCCAAAGGCCATGGCTGACAGCAGAGGGTGAGGGAAAAAACAGAGTCTTTGTATGTGGTCCCAAACCAAGGTCTTTCTTTGATTAATAAAAGTCCCTTCCCTTTTACAAAGAGGTTTACAGTTGGAGTACTTTTACAAGTGATTGCTTTGGTCCCCATAATAGCCCCCAAGGGGGCTGGGCAGGGCTACTAATCTCATTCTATGGATGACAAAGCTGAGGCCCAGAATGGGAAGGTGATTTGCCCAAGGCCACTCAGTGAGGGCTCTGTCTGTGGGTTGGGTCCTCTCAGTTTCTCAGGCATCTATGGAAAGAAGCTGCTATGACGAGTTGAAGGTTTCAGAATGTTCATTTCTGTACCGATGTTTTCCAGCTTTTCACGAAGTGGGAGGCTATGACGCCTTCATGGAAAAGTACATGAAAGCCATTCCAACCATAGTGTCTGATGGCAACACCACCTTTCAGGAAAAATGCTACACTCCAAGGGCCGACTCCTTCCACATCTTCCGAGATCCCCTCACGGGAGACCTCCCATGGCCTGGGTTCATCTTTGGGATGTCCATCCTTACCTTGTGGTACTGGTGCACAGATCAGGTACCCAAGCTGGATGTGCGGGATGGACAGAGTCTTCTCCAGGGCCCTACAGGAACTCCTGTCTGTCTGTGGTTTGCAGGGTTGGGACAGGGAGGGGAGAGCTCAGGTGGTTTGTAAGTTGCCACGCCCCAGTGATACAGCAGTGCCAGGCCAATGACCCAAGATGGCGAAGCTAGGAAGTACAAAGGTGTCACAGGGTCTCTGGTCTGCACACCTCCCTTACTGGGCTTTTTCTGGCAGGTCATTGTGCAGCGCTGCCTCTCAGCCAAGAATATGTCTCACGTGAAGGGTGGCTGCATCCTGTGTGGGTATCTAAAGCTGATGCCCATGTTCATCATGGTGATGCCAGGAATGATCAGCCGCATTCTGTACACAGGTAATAACTTCTGCTGGACCCACAAACCACTCTCCCTTTTTCTGTCTCCAAGTCACTTCTAAAGCTCTATAGCTTCCCGCTTCCTCCTCTTTTTTTTTGAGACCAGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCATTGCTCACTGCAGTCTCCAACTCTAACTCCTGGGCCCTAGTGACCTTCCTGCTTCAGCCTCCTGAGCAGCTGGGACTACAGGTATGTACCACCATGCCTGCCTAATTTTTAATTTTTTTTTTTGTAGCGATGGGATTTTGCTATGTTGCTCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCTGCCTTGGCCTTCCAAAGTGCTGGGATTATAGGCATAAGCCACCACGCCTGGCCCTCTTCTTTATTTGTTATGGTCATATCCAAGCATTATTGCTCCTGTGCTAGACAGTGAGCAACTTGAGGGAACTTTTGGAGTTGTCTTCCCTGGTTTCTTATGTCGACAATTGTTTCCTCCTTTTTTTTTTTTTTTTTTTTCAAATCTTCTAAAGTTATGACATGCCTCCAGGTCACTTCTCCCTAATAATATTTGCTCAATTGTTGCTTAATCTCTTGCTGTCATCCTTCCACCCTGAATGTTTCTTTGATTTCTTTCCTCCGTTGCCTAGAAATTGTCTTTCTTCCTTAGTCAGAGCTCATCAGTGTGTCAGGGCCAGCAGGGCGGGGCAGGCACCAAAGGGTTCTGTGGAGAGCTGCACTCCTGAGGAACCATTTCAGAGCCTTGGAAAGGAATATCCTGTTTGAAACCTTGTTTTAAGAAGGTGAATTTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCTATCTCTACTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCTACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAGAAGGTGAATTTTGGAAATATTTCCCCAATGTCTGCTTGCTGACGTGGCTCTCCATCTCTTCCCAGAAAAAATTGCCTGTGTCGTCCCTTCAGAATGTGAGAAATATTGCGGTACCAAGGTTGGCTGTACCAACATCGCCTATCCAACCTTAGTGGTGGAGCTCATGCCCAATGGTGAGATTCTTTCTTGGGAGGTTGGTAGAGTCTTTCTTGGGAGGCTGATTGGGTTTAGGCACCACCTACATTCCTGTGAACCTTCTGGGCAAAGACATTTCTTAGCCGGGGGGTTAGAAGGGAAAGCATCATTGTGGGTGTCCTCAGTTTTTGGACATGTCCTCTCTCAGTGGGAAGGAGACATATGACTTGGTTGGGTTCTATGAGTTCTGGGACTTGCCCATCAGTCAGGCTTGGAAAGGAGATGATCTGAAAACTTGTTAGAGAAAAACATGACTTTCCATACTCATACAGAAGGTCTTTCAAAGCTCTCCAACAGTGGATGTAAATTAGCACACCCATTATGGAAAACTGGATGGTGGTCCCTCA
GCAGAGGGGTCACTCTGCCTCCTTGGTGGGGGTGGGAGGGATCAGCTTTAGAACTTGCTGCTTGACTGCAGCCCCACAGCTTTGGGGACTAAGAAAAAGGTAGACATATGTCCCACCATCTCCACAGCCAGCTCTTTGCTCCTCCCTGCCTTGTGTGTGGAAGACGCTTCTTCTTACCACAGAGGAGTCATCTCCTTTGAGCCATCTTCTGGCTCAAAAGGGTCACACCAGACTCTTTCCCCTCAAGTAGGGAGAAACATTCGCCACTTCTATGACAGGTGGAGCTGTGGGAACATGCTGAATAGCAAAATACTGTAACAGGACAAGGGAGGGAAGGAAGGAGAGGCAGGCAAACCACTGTGGGGATGTTCTCAGAAGGCCAGCAGAAGTAGAGGGTGGAGAGTGGGGAAGGAAGCAAGTAGACAGGTCACCCTCCACACGAGGTCAGATGTGTTGTCTTCTTGCCTGCTTAGGGGGCCTGGCGGCGGTGATTTACACGGACACCTTGCAGACGGTGATCATGCTGGTGGGGTCTTTAATCCTGACTGGGTTTGGTAAGTGGGGCCAGGGCAGGCTGAGGAGGTGGGAGCAGAGGTAGAGGGCCTCAGGAAGAGGAAGGCAAGTCCAGCCTCTCTACCTGCTTGCCAGACTAGGCAGTGAGCTGAGGCATGCTCTGCCCTTCCAAACGGAGGGTCCAGCCCAGATGGGCTGTCATTGTGGGTATGCAGGGTCAGCTTCCTTATCCCTGGAAGACTGAAGCTGGGGCTGGTCCTGGATTTTCTGCTGCCCTCTCTCACCAGTCTGGGCTAGTGGTTGTGCTGTGAGCCTGTGATAACATGGTGTTCTGTTTGCAGAGAAACTGGACAAAAAAGGATAAGGCTAAATATCCATCAAGCTAAATCTAGTCAAATGTTGCGTCTTCCATCTTAGGCTATATCTTATCTACATTTTGATGTCAAATATCCTTTCTTTTATGAATTGTTGATAGTGGGTGATAATGTTCCTTTTAATGCCCCTATTTGGCAAAATTAAAAACTTGGCTCCTCAGGGTTGGCCCTCCAATTAATTTTTTTTTTTTTTGCAATTTTACTTGTCTATGAAATCTTAAAGATGAGACTGGAGAACCTAGGTAAGGGTACTTATTATGGGAGGATAGAAAGTACATTTTATTTCTAGGTGCTCAAGGCCCACTGTGTATCCTGCAAAAACTTGTATTTGCTCTCCACTCTTCTGTTTTCTAAGGACTTTCATTTGGTTCTCCCCAGCAGGCCTTGGGTGTTAGCTAGGCAGGCAGTGGAATGACTTATTCAAGGACACACAATTGAGAGGTGGCAGGTTCTGGATTCCTCACCCATTCCCTGTCCATCCCACCACATGCTGGGTCCAGGAGTGGTAGGTGTGGGTCTGAGGTCCCAAAGGCCACTGTGTGTGTCTAGGTCTGTGTGTCTCTAGGCCTGAGTCCAAGGCTCCAAAGGCCATGGCTGACAGCAGAGGGTGAGGGAAAAAACAGAGTCTTTGTATGTGGTCCCAAACCAAGGTCTTTCTTTGATTAATAAAAGTCCCTTCCCTTTTACAAAGAGGTTTACAGTTGGAGTACTTTTACAAGTGATTGCTTTGGTCCCCATAATAGCCCCCAAGGGGGCTGGGCAGGGCTACTAATCTCATTCTATGGATGACAAAGCTGAGGCCCAGAATGGGAAGGTGATTTGCCCAAGGCCACTCAGTGAGGGCTCTGTCTGTGGGTTGGGTCCTCTCAGTTTCTCAGGCATCTATGGAAAGAAGCTGCTATGACGAGTTGAAGGTTTCAGAATGTTCATTTCTGTACCGATGTTTTCCAGCTTTTCACGAAGTGGGAGGCTATGACGCCTTCATGGAAAAGTACATGAAAGCCATTCCAACCATAGTGTCTGATGGCAACACCACCTTTCAGGAAAAATGCTACACTCCAAGGGCCGACTCCTTCCACATCTTCCGAGATCCCCTCACGGGAGACCTCCCATGGCCTGGGTTCATCTTTGGGATGTCCATCCTTACCTTGTGGTACTGGTACACAGATCAGGTACCCAAGCTGGATGTGCGGGATGGACAGAGTCTTCTCCAGGGCCCTACAGGAACTCCTGTCTGTCTGTGGTTTGCAGGGTTGGGACAGGGAGGGGAGAGCTCAGGTGGTTTGTAAGTTGCCACGCCCCAGTGATACAGCAGTGCCAGGCCAATGACCCAAGATGGCGAAGCTAGGAAGTACAAAGGTGTCACAGGGTCTCTGGTCTGCACACCTCCCTTACTGGGCTTTTTCTGGCAGGTCATTGTGCAGCGCTGCCTCTCAGCCAAGAATATGTCTCACGTGAAGGGTGGCTGCATCCTGTGTGGGTATCTAAAGCTGATGCCCATGTTCATCATGGTGATGCCAGGAATGATCAGCCGCATTCTGTACACAGGTAATAACTTCTGCTGGACCCACAAACCACTCTCCCTTTTTCTGTCTCCAAGTCACTTCTAAAGCTCTATAGCTTCCCGCTTCCTCCTCTTTTTTTTTGAGACCAGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCATTGCTCACTGCAGTCTCCAACTCTAACTCCTGGGCCCTAGTGACCTTCCTGCTTCAGCCTCCTGAGCAGCTGGGACTACAGGTATGTACCACCATGCCTGCCTAATTTTTAATTTTTTTTTTTGTAGCGATGGGATTTTGCTATGTTGCTCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCTGCCTTGGCCTTCCAAAGTGCTGGGATTATAGGCATAAGCCACCACGCCTGGCCCTCTTCTTTATTTGTTATGGTCATATCCAAGCATTATTGCTCCTGTGCTAGACAGTGAGCAACTTGAGGGAACTTTTGGAGTTGTCTTCCCTGGTTTCTTATGTCGACAATTGTTTCCTCCTTTTTTTTTTTTTTTTTTTTCAAATCTTCTAAAGTTATGACATGCCTCCAGGTCACTTCTCCCTAATAATATTTGCTCAATTGTTGCTTAATCTCTTGCTGTCATCCTTCCACCCTGAATGTTTCTTTGATTTCTTTCCTCCGTTGCCTAGAAATTGTCTTTCTTCCTTAGTCAGAGCTCATCAGTGTGTCAGGGCCAGCAGGGCGGGGCAGGCACCAAAGGGTTCTGTGGAGAGCTGCACTCCTGAGGAACCATTTCAGAGCCTTGGAAAGGAATATCCTGTTTGAAACCTTGTTTTAAGAAGGTGAATTTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCTATCTCTACTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCTACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAGAAGGTGAATTTTGGAAATATTTCCCCAATGTCTGCTTGCTGACGTGGCTCTCCATCTCTTCCCAGAAAAAATTGCCTGTGTCGTCCCTTCAGAATGTGAGAAATATTGCGGTACCAAGGTTGGCTGTACCAACATCGCCTATCCAACCTTAGTGGTGGAGCTCATGCCCAATGGTGAGATTCTTTCTTGGGAGGTTGGTAGAGTCTTTCTTGGGAGGCTGATTGGGTTTAGGCACCACCTACATTCCTGTGAACCTTCTGGGCAAAGACATTTCTTAGCCGGGGGGTTAGAAGGGAAAGCATCATTGTGGGTGTCCTCAGTTTTTGGACATGTCCTCTCTCAGTGGGAAGGAGACATATGACTTGGTTGGGTTCTATGAGTTCTGGGACTTGCCCATCAGTCAGGCTTGGAAAGGAGATGATCTGAAAACTTGTTAGAGAAAAACATGACTTTCCATACTCATACAGAAGGTCTTTCAAAGCTCTCCAACAGTGGATGTAAATTAGCACACCCATTATGGAAAACTGGATGGTGGTCCCTCA
Task1_train_28722
Assess the clinical impact of this variant on gene SLC5A1 (solute carrier family 5 member 1), found on Chromosome 22. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Congenital glucose-galactose malabsorption
ACCAGCTGGAGCTGGAAGAATTTGAAGTTGGAGAGGGAAGACATGGCATTCAAGTCAGAGAACAGTACTGCCCAGACCTTTCAGGCAGAAGTAGGACAGGAGTGAGGGTGAAGGACTTGTATGGAATCTCACCTGGCTCAAGGAGAGTTTGTGAATGTGAAAGATGGAAGATGTGGCTGGAAAGGTAGGTCAGGGTTTCATTAACAGTGATCCCTTTGGTGGAATCTTTAGGTTTTTCTAAATATGAGATCATATCATATGTAAATGAGGCCAATTTGACTTCTTCTTTTCCAATTTGGATGCCCTTTTTCTCTTGCCTAACTGCGCTGTCTAGGACTTCCAGTACTATGTTGAATAAAAGTGGTGAAAGGGTATCCTTTTCTTTTTCCAGATCTTACCGGAAAGGCTTTCAATTTTTCCCTGTTCAGTATGATGTCAGCTGTGAGTTTGTCATATATAGCTTATAATCTTTATTGTTTTTGAGGTTTGTTACTTCTGTACCTAATTTGTTGAGTTTTTATTATGAAAAAATTTGAATTTTTAAAAAATTATTTCGTGGCAAATTTATTGATTTTTTTTGAGACAGGAATCTCACTGTATTGCCAAGGCTAGTCTCAAACTCCTGAACTCAAGTGATTCTTCTGCCTCAGCCTCCAAAGTAGCGAGGACTACAGGCACACCCCATGCCCAGCTAAGAAATAATTTTTTTGAGTGAAATAGTGCATGGGGGATGAATAGGGAACATATTTTTTTCTTTTTCCTTATTTATTTCTTCATCTAGAAGTCACTTCCAGATGCCAGCATAGGGTGAGGCACTAGCAACACAAAGTGAATGAAACCTGTTTCCTTTCCTGGGCAATCCCCCGGTTCAGATTGGGAGACAGAGAACTATTGTGATTCCATGGCAGTGTGGTTGGTGCTTGCCTGGATCTGTGTCCACAGTGCTGTGGCCACAGCAAGAAAGGGTGCACCCACCCTGTGTAGCTTGTCCTATTTAAGCTAGAATGAGGTTACCAGGAAGAGAAGAGCCTGTATTCTCCCAGATAGAATGAGCTGTACAAAGACCTGGAGACAAAAACACATGCCATGCCATGTGTGGGGGATAGCTGATAATTTGGAATAGAAAGTGCAGGGATACCAATGGCTAGCAAAGAGGCTGACCAGCACCTGATAAAACTGTGAAAGCTCTTTTGGGCCACCCTTCTAAGAGCACATTCTATTTTGCCACTGGCCTGCCAAACTCAAACCTAGTCCTTTAGGTGAGGACTTACCTAAGGGAAAGATAGAAAGGAAAAAAGGAAGGAGGGAAGGAAGGAAGGAGTAAAAAAAACCCTGAAAAATCATCCCCTCATGTTTCTGGTCTCTTAAAGTCTTCCATATTCTAATATGCAGACCCAAAATTTAATGTAAAAACACAGTATAATTTTATGTTCTCAAACTAAAAATAGTTCATAAAATAAACTACAAAGAGGGCTAAAAAAGTAAGTGTTATTTATATTTTGATGGAAAAGTTTCTTTCTCCTTCATCTTCCAAAGACCCAATTTCTTTTCCCATGTCTTTGTGAAATACAAATTACCTCACAAGTAATTACTTTTCATCTGAATATGCCTAAATCTGGAGATTGGTGTTGACAGTAGCTGCAGGTGGAGAGGCTCAAATTATTTTTCAAGTTAAAGGGAATTTTTGGAATCAAGTCTGTAGGTTGACATTCTATTCCAGTTATTAGACACTTTACCCCATTATATTATGGCTCCTTGTTTAATGATCGAGGTGAAATCATGTTGCTGAAACATGATAGACAGACACACTGAGTGTGTCTGTCTGAGTGCATAGCACTCCTAGCCATATTCTGAACTTCAGTGTTCTGGGTTCAGACAGCCTGGAGCTACCACTTCTCCTACCTCTGTTCCTTTGCCTCTGCCTATGCCTCTCCAAAGAATGTTAGAAAGGCCATCTGTTTTGTGTGTTCAGCATGAGTTAACCCAGGGTTTTCTTTCACAGGGAGCCTTTTGGGGACTGATCCTAGGACTTCTGATTGGGATTTCACGTATGATTACTGAGTTTGCTTATGGAACCGGGAGCTGCATGGAGCCCAGCAACTGTCCCACGATTATCTGTGGGGTGCACTACTTGTACTTTGCCATTATCCTCTTCGCCATTTCTTTCATCACCATCGTGGTCATCTCCCTCCTCACCAAACCCATTCCGGATGTGCATGTGAGTATCCATTTAGGGGATCTGTCCTTGTTTCATGTTCACACTGCAATGTTCTTTAATTTTTTTTAAATTTTTCATTATTATGGGTACATAATAGTTGTATATAATTATGGGGTACATGTAATGTTTTGATACAGGCATACAATATAAAATAATCAAATCAGGGTAATTGGGGTGTCCATTGCCTCAAGCATTTATCATTTCTTTGTGTTAGGAACATTCCAATTCCACTCTTAGTTATTTTAAAATACAGATTATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACCTGAGTCCAGGAGTTTGGGACCACCCTGACAACATAGTGAGACTCTGTCTTTAAATTATATGTATATAATAAATTACGTATAGCTGCCCTATTGTGCTACCAACTACTAGATTTTAATTCATTCTAATTGTATTTTTGTACCCATTAACCATCTCCATTCTGTCCTCCATTCCCTGCTACCCTTCCTGGCCTCGGTAACCATCAATCTACTCTCTATCTCCATGAGTTTGGTTTTTAAAACTTTTAGCTCCTATATATGGTGAGAACATGAGAAATTTGTCTTTTTATGCCTGGCTTATTTTACTTAACATAATGGCCTCCAGTTCCATCCATGTTGTTGCAAATACAGGATCTCATTCTTTTTATGGTGGAATAATACTCTACTGTATATTTGTACAATATTTTCTTTATCCATTCATTTGTCAGTGGACACTTAGATTGATTCCATATCTTGGCTACTGTGAATAGTGCTGCAGTAAATATAGGAATACAGGTATCTCTTTGATATACTGGTTTACTTTCTTTTGAATATATATCCAGTAGTAGAATTGCTGGATCATATGGTGGCTCTATTTTTAGTTCTTTGAGGAACTTCCATAGTGTTCTTCATTGTGGCTGTGATAATTTACATTCTCACCAACAGTGTTTGAGGATTCCCCTTTCTCCCCATCCTCACCAGCATTCATTATTGCCTTTTTGATAAAAGCCATTTTAAATGGGGTGAGATGATATCTCATTATAGTTTGATTTGCATTTCTCTGATGATTAGTGATGTTGACATGCCACAACATTCTTGGTCAGCCTCAGCAAAATTATACATCTTATATTCACATTCACATGACTTGCCATTGGTTTCACGTGGAAGGATACATGCCAGGAAACATGGTGTGCCAACAGGCTGATATCAAGCCCATGTCTTTAGTCAGAGTCCTCACAGTTGTCCACCCTTTATTCCAGGGCTTATTCTCTGAAACCTGCTCCCCAAGTGACAGCTCAGGTGCGTAAGATCACATGGGTGGTACAGGGCTACCTGGCTTAGAAGCCTATGTTCCAAATAGAAACTGGTATTTCTTTTGACAGTCCCATGGTCAAAGCTTTCAAAGGTCCCAACAAAGCACATACCTAGTTACAAAAATCAGTCTACTCAGGGAAACCCAAAATATAGTTTGCCTCTTGATTTTTTTTTCCAAATTAGTCCACCAAAAATTGACCATAGGATGTAAAACATTTCTAACAATATCAAAGTCTAATTGATTCAAGACTTCAAAAGTTGCAATTACTCTTCTTTAACTCTAGATGCCCCCATTGGTTTAGAATTCATTCATGGCTCTCCCAATTTAGATAAAGATGACCAATTATGAGCCATTTTTATTAGTAGTCTGGTAACCCAACACAGATTTCCAGGTTTCCAAGGGAACAGAGCCAGAAAGTTAACCCAAGGTCATATTTATTCCTAGAAAACAGAAGGATTTTGTTAATCCTTTACTTTACTCATGCATGCACAGACTATGGAATCCCTAAGAGACCTTCAACTTCATTGCCAAATTTTTAAGAGCTGTGACAAAC
ACCAGCTGGAGCTGGAAGAATTTGAAGTTGGAGAGGGAAGACATGGCATTCAAGTCAGAGAACAGTACTGCCCAGACCTTTCAGGCAGAAGTAGGACAGGAGTGAGGGTGAAGGACTTGTATGGAATCTCACCTGGCTCAAGGAGAGTTTGTGAATGTGAAAGATGGAAGATGTGGCTGGAAAGGTAGGTCAGGGTTTCATTAACAGTGATCCCTTTGGTGGAATCTTTAGGTTTTTCTAAATATGAGATCATATCATATGTAAATGAGGCCAATTTGACTTCTTCTTTTCCAATTTGGATGCCCTTTTTCTCTTGCCTAACTGCGCTGTCTAGGACTTCCAGTACTATGTTGAATAAAAGTGGTGAAAGGGTATCCTTTTCTTTTTCCAGATCTTACCGGAAAGGCTTTCAATTTTTCCCTGTTCAGTATGATGTCAGCTGTGAGTTTGTCATATATAGCTTATAATCTTTATTGTTTTTGAGGTTTGTTACTTCTGTACCTAATTTGTTGAGTTTTTATTATGAAAAAATTTGAATTTTTAAAAAATTATTTCGTGGCAAATTTATTGATTTTTTTTGAGACAGGAATCTCACTGTATTGCCAAGGCTAGTCTCAAACTCCTGAACTCAAGTGATTCTTCTGCCTCAGCCTCCAAAGTAGCGAGGACTACAGGCACACCCCATGCCCAGCTAAGAAATAATTTTTTTGAGTGAAATAGTGCATGGGGGATGAATAGGGAACATATTTTTTTCTTTTTCCTTATTTATTTCTTCATCTAGAAGTCACTTCCAGATGCCAGCATAGGGTGAGGCACTAGCAACACAAAGTGAATGAAACCTGTTTCCTTTCCTGGGCAATCCCCCGGTTCAGATTGGGAGACAGAGAACTATTGTGATTCCATGGCAGTGTGGTTGGTGCTTGCCTGGATCTGTGTCCACAGTGCTGTGGCCACAGCAAGAAAGGGTGCACCCACCCTGTGTAGCTTGTCCTATTTAAGCTAGAATGAGGTTACCAGGAAGAGAAGAGCCTGTATTCTCCCAGATAGAATGAGCTGTACAAAGACCTGGAGACAAAAACACATGCCATGCCATGTGTGGGGGATAGCTGATAATTTGGAATAGAAAGTGCAGGGATACCAATGGCTAGCAAAGAGGCTGACCAGCACCTGATAAAACTGTGAAAGCTCTTTTGGGCCACCCTTCTAAGAGCACATTCTATTTTGCCACTGGCCTGCCAAACTCAAACCTAGTCCTTTAGGTGAGGACTTACCTAAGGGAAAGATAGAAAGGAAAAAAGGAAGGAGGGAAGGAAGGAAGGAGTAAAAAAAACCCTGAAAAATCATCCCCTCATGTTTCTGGTCTCTTAAAGTCTTCCATATTCTAATATGCAGACCCAAAATTTAATGTAAAAACACAGTATAATTTTATGTTCTCAAACTAAAAATAGTTCATAAAATAAACTACAAAGAGGGCTAAAAAAGTAAGTGTTATTTATATTTTGATGGAAAAGTTTCTTTCTCCTTCATCTTCCAAAGACCCAATTTCTTTTCCCATGTCTTTGTGAAATACAAATTACCTCACAAGTAATTACTTTTCATCTGAATATGCCTAAATCTGGAGATTGGTGTTGACAGTAGCTGCAGGTGGAGAGGCTCAAATTATTTTTCAAGTTAAAGGGAATTTTTGGAATCAAGTCTGTAGGTTGACATTCTATTCCAGTTATTAGACACTTTACCCCATTATATTATGGCTCCTTGTTTAATGATCGAGGTGAAATCATGTTGCTGAAACATGATAGACAGACACACTGAGTGTGTCTGTCTGAGTGCATAGCACTCCTAGCCATATTCTGAACTTCAGTGTTCTGGGTTCAGACAGCCTGGAGCTACCACTTCTCCTACCTCTGTTCCTTTGCCTCTGCCTATGCCTCTCCAAAGAATGTTAGAAAGGCCATCTGTTTTGTGTGTTCAGCATGAGTTAACCCAGGGTTTTCTTTCACAGGGAGCCTTTTGGGGACTGATCCTAGGACTTCTGATTGGGATTTCACCTATGATTACTGAGTTTGCTTATGGAACCGGGAGCTGCATGGAGCCCAGCAACTGTCCCACGATTATCTGTGGGGTGCACTACTTGTACTTTGCCATTATCCTCTTCGCCATTTCTTTCATCACCATCGTGGTCATCTCCCTCCTCACCAAACCCATTCCGGATGTGCATGTGAGTATCCATTTAGGGGATCTGTCCTTGTTTCATGTTCACACTGCAATGTTCTTTAATTTTTTTTAAATTTTTCATTATTATGGGTACATAATAGTTGTATATAATTATGGGGTACATGTAATGTTTTGATACAGGCATACAATATAAAATAATCAAATCAGGGTAATTGGGGTGTCCATTGCCTCAAGCATTTATCATTTCTTTGTGTTAGGAACATTCCAATTCCACTCTTAGTTATTTTAAAATACAGATTATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACCTGAGTCCAGGAGTTTGGGACCACCCTGACAACATAGTGAGACTCTGTCTTTAAATTATATGTATATAATAAATTACGTATAGCTGCCCTATTGTGCTACCAACTACTAGATTTTAATTCATTCTAATTGTATTTTTGTACCCATTAACCATCTCCATTCTGTCCTCCATTCCCTGCTACCCTTCCTGGCCTCGGTAACCATCAATCTACTCTCTATCTCCATGAGTTTGGTTTTTAAAACTTTTAGCTCCTATATATGGTGAGAACATGAGAAATTTGTCTTTTTATGCCTGGCTTATTTTACTTAACATAATGGCCTCCAGTTCCATCCATGTTGTTGCAAATACAGGATCTCATTCTTTTTATGGTGGAATAATACTCTACTGTATATTTGTACAATATTTTCTTTATCCATTCATTTGTCAGTGGACACTTAGATTGATTCCATATCTTGGCTACTGTGAATAGTGCTGCAGTAAATATAGGAATACAGGTATCTCTTTGATATACTGGTTTACTTTCTTTTGAATATATATCCAGTAGTAGAATTGCTGGATCATATGGTGGCTCTATTTTTAGTTCTTTGAGGAACTTCCATAGTGTTCTTCATTGTGGCTGTGATAATTTACATTCTCACCAACAGTGTTTGAGGATTCCCCTTTCTCCCCATCCTCACCAGCATTCATTATTGCCTTTTTGATAAAAGCCATTTTAAATGGGGTGAGATGATATCTCATTATAGTTTGATTTGCATTTCTCTGATGATTAGTGATGTTGACATGCCACAACATTCTTGGTCAGCCTCAGCAAAATTATACATCTTATATTCACATTCACATGACTTGCCATTGGTTTCACGTGGAAGGATACATGCCAGGAAACATGGTGTGCCAACAGGCTGATATCAAGCCCATGTCTTTAGTCAGAGTCCTCACAGTTGTCCACCCTTTATTCCAGGGCTTATTCTCTGAAACCTGCTCCCCAAGTGACAGCTCAGGTGCGTAAGATCACATGGGTGGTACAGGGCTACCTGGCTTAGAAGCCTATGTTCCAAATAGAAACTGGTATTTCTTTTGACAGTCCCATGGTCAAAGCTTTCAAAGGTCCCAACAAAGCACATACCTAGTTACAAAAATCAGTCTACTCAGGGAAACCCAAAATATAGTTTGCCTCTTGATTTTTTTTTCCAAATTAGTCCACCAAAAATTGACCATAGGATGTAAAACATTTCTAACAATATCAAAGTCTAATTGATTCAAGACTTCAAAAGTTGCAATTACTCTTCTTTAACTCTAGATGCCCCCATTGGTTTAGAATTCATTCATGGCTCTCCCAATTTAGATAAAGATGACCAATTATGAGCCATTTTTATTAGTAGTCTGGTAACCCAACACAGATTTCCAGGTTTCCAAGGGAACAGAGCCAGAAAGTTAACCCAAGGTCATATTTATTCCTAGAAAACAGAAGGATTTTGTTAATCCTTTACTTTACTCATGCATGCACAGACTATGGAATCCCTAAGAGACCTTCAACTTCATTGCCAAATTTTTAAGAGCTGTGACAAAC
Task1_train_28723
A change on Chromosome 22 affects gene FBXO7 (F-box protein 7). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Parkinsonian-pyramidal syndrome
GATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGCGACTCCATCTCAAACAACAACAACAACAAAAAAAAACAAAAACAAACAAAAAACCAGACACAGCAGTAAAGTGGACACATCAGGTTATATATGACCCTGTCTCCTTTGTTCGGTGTACTCTCGTGACAAAACTGCTGGCGAGTATACCCTTTCTACAAAAAATAAAAATGGCCTTGCTAAAAAAATTAAATTTATATTCAAGTGCTATTTCTTTACAACATCAAAAAACAAACATTTCTAACAATCCCATTCCTCAGGTCTGTATTTATGTCTATCATAAAGCAGAGACTTTTTACACTCTACTGAAAGAGCTGATTCACTCAACTGTAAACTTTGCATGGGCAGAAACATGTCTTTTTGGTCTCTTGAGTCTCCAGCATGTGGGGTATCTGTCACAAAGTAGGCAATCAATACATATTTATTTGCAGAATCAAGGGCAGGATGTGGACAAGTGCTGCCACCTATTGGGAGAAACTTTATTTGACTCTAAGGATTTGGACTATGGTTATCACACAAGGACGAAACTTGATACTCTCTCTCATCTAAGTTATCATTAGTTAGACCCTCTATGGTAGCCAGCCTCCAGGATGGCCCGCAGCGATCCCTGTCTGTTGGCATTCATACCTTTGGCTGGATCCTCTCACACATAGGGTTGGTTTGTAAATATGACAAAAGCCGTATGTGACCTCTGGAGCTAGGTCATAAAAGACATTGTGGCTTATACCTTGGTCTCTCTGGGATCACCTGCTCTGAAGGAAGCCAGCTGCCATGTCATGGGGACACTCAAACAGCCCTATGGGGAGGTTCACGTGGTGAAAACAGGTCTCTGGCCAACAGTCATGACTGTGCCATCCTGGAGGCCGATCCTCCAGCCCTAGTCAATAACTGCTGCCCTGGCCTACAGTTTGTAATCTCATGGGAGACCTGGAGACAGAACCACCCAGCCACGCATCCCCAAATCCCTTTACCTCTAAAACCTGTGGGACAACAAATGTTTATTGCGTTAAACTTTGGGGTGATTGTTATGCAGCCACAGAGTTCTAATAAACTGTCGGACATAGATTACTGGCTACAAATAGTTCTACTTTTTTTTTGAGACAGGGTCTCGTTCTGTGGAACCAGGCTGAGGTGCAGTGGTGCGATCACAGCTCATTGAGGCCTCGACCTCCGGGCTCAATCGACCCTCCCGCCTCAGCCACCCAACTAGCTGGGACTACAGGCAGGCGCCACCACACCTAATTTTTTGTATTTTTTGTAGAGATGGGGGGGGGGGTTTCACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAACGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAACCTAAGGATTAACCTAAGGCTTCTCAGAGCAGATGCCGCTGGAACTGAGGGCCACGGAAGAAAGGGGGTGACACTTGGTCCTGGGGAGTGGCGACTGTATTGTCTGTCTGCAGCATCCCTATCAGCGCTACCGTTGTTCCACGCACACAGGGAGTAAGTACTGGGAGTCCCAGCCACCGCCGCGGAAAATCTGGGATGCCAGCGAGCGGCCGCATCTCGGCGCCTGCGCACTGTGCCCGCGCTCTCAGGCAGCGCCGTTGCGCGCGGAGTCATCGATCGGCCGACCCCGAGAGGCCCGGTTCCTTTAGGCCGCCTGCCCGCCTCCAGCTCTCGGGGTCGGCTCCAGGAGGCGCCCTCAGGAGAGGGGCGGGCGCTCTATTCCAGAGACCGAGTGGCAGGGCGGCCACTGTGGCGGGGCTCTTTCCCCGTTTCGCCTCAGCTACCCCTCAGCTCCGGTAGTCGCCAGTCCGGGGTCGTCGCCGTTTGGGGCGGGAGCTGCTCGGCCCCGCCGCCGTCCCCGTCGCCGCTTCCGGGTCCAGGCCCCTCGGGCCGCCTGCCGCCGTCATGAGGCTGCGGGTGCGGCTTCTGAAGCGGACCTGGCCGCTGGAGGTGCCCGAGACGGAGCCGACGCTGGGGCATTTGCGCTCGCACCTGAGGCAGTCCCTGCTGTGCACCTGGGGGTACAGGTACGCTGGGGCCGGGGCTGGGCGGCCCGCGGGGAGTGGGGAGTGCTTGGGGTGGGTGCAGGGCGGGTTGGCGTCATCTGTGGGCTGCAGGCGCGGGCGTGGCCGGGCGATAGGCCAAGTGCGGGGACGCCGGGGGGGCCTTCACGGGAGGCCCGGGCTCTTCCGGGCGTCGCGGAGCCGGAGGGTGCAGGCGACGGGAAGCGCGGGTGGTCGGCTGGGGTCCGGCTCCTGGAGAACATGGCCCGGCCTCCCGGGGGCTCTGGTCCCCTCCTCGGTGAGTCATGGCTTCTGGTTTTGCAGTAAACGGAACCAGGGAGAGGAGGGAACGCACAATTTCCACAACTGGTTAGATTTCAAGTTGGAAATGATGAGCTTGGCTTGGGTTAAACCTTTCTGGACTGTGAGGGGTCCGAGTTAATTTCTTCAGCTGTTGGAGTATTTCAATGAAAAAGTTTGGAAATTGCTAGAAGTTAAAAATCTGCCCTCAATCCGAGGCCACCGGTAGCTTGTATCGCTGCTGTGAAGCGGCAACAATTTTAGATTCTGTTGTGTTCATGCGCCGAGCACCGCGGTGAGCGCTTGGACTTCGCCGCCGAAAAGTTTTAGAAAGGACAGCGTGTAGGCGTGTTTCAGACCATTTCATTTTCTTGGGTGAAATGTTGCTTTTTTGCTAAAACTGAGGCAAACGTTGATCTTGAGAGCTTGCAGTTTGGGGGCAGTAAAGTTGAGAAAGGATCATATTCTGTTATTGGTTTGTGGGACTGCAGGTGAAGCTGCTTTGTTTCCCTAAAAGATACTTTTTGGGGACAATAATTTGGGAGTAAAGCGGCAAGGTAAGAGTGGTCCTCTTCAAATACTGAGCTAGTGAATTTGAAACTTGAGTGTGCTAAGGAAAAATGAAAAAGATGTTCCCTGGGGATTTTTAGGTGAATTCTTCAAAACAAAAGCAAACCTTCCTACGTTTTCACCTTATTTTTAGGGAATTGGGTAAAATGAGGCCGTTATTCTGAACTTCTCGCCCTTTCATTTTCCTGGTTAAGACATTATTAGATTGAAAGTAAGCCTGTTTTCTTCCTGATTAAAAAAAAAACCCTAAATAAGATACTGACATAACTCCTTTTAAACATTATAGTAAGTGACATGCCTACTGTTATTTCTTGTTGTTAAACCTGTGTGTTTTACATACTGGCATCGTTACCAGTAGGTTACGAGTAGAAGATTGAATAAATCTTCAAACTTATTTTTTAAAGGTATTACCAAGTATATATATATTTTATTATTTTTAAATTAGGCAGTCTTGAAAGGACGTGAAACTCAATATGACTGCCCAAAAGGGCACGTTGGTTTCTCTTTCAGATTTCTTTTTACAGTTGAGGCTGGTTACCTGGACAGAATTTAAGCTTCAGCTTGTGAAAGTAAACTCATTTTTTCTGAAAGTATACTCATTTTCTAATAAAGGTGCAGTTTTAAAATATGTCCATGTGATATTATTTTAAAAATATCTTTACTGAGCAAGTGGAGCTAGGATTGTCATGAAATGCTTTTATTTGTTTTGTTTTTGTTTTTTAAGAGAAAAGTGAAAGCAAGTTTATTAAGAAAGTAAAGGAATAAAAGAATGGCTACTCCATAGGCAGAGCTGCCATGAAATACTTCTAAGAAGGCTGGAGTTTCTAGAATTTCATTTCCTGGAATTAAATACTCCTCTTAACGCCCCAATTTCAGAGGTAGAATCCTGGAAAACTATATATTACTTTAGAAATAGCTTTTCCCTTTTTCTAAAGTGGGAGGAAGAGCTGGTATATTTATTAAGCGGACCATGACCTTTTCTGCAAACAGATACTTGAACGTACCTTGTACTAGATACTGTTTTAAAAAGCAACCTTTTGCTGTGACAAATGACCCATAAACACATAGTTCATTTGAGGTGTTTTTGCTTTTTCTGCCAAAGTTGGGGTGGTGTTTTTGTGGGCAAATGGCAGATTTTCAACGT
GATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGCGACTCCATCTCAAACAACAACAACAACAAAAAAAAACAAAAACAAACAAAAAACCAGACACAGCAGTAAAGTGGACACATCAGGTTATATATGACCCTGTCTCCTTTGTTCGGTGTACTCTCGTGACAAAACTGCTGGCGAGTATACCCTTTCTACAAAAAATAAAAATGGCCTTGCTAAAAAAATTAAATTTATATTCAAGTGCTATTTCTTTACAACATCAAAAAACAAACATTTCTAACAATCCCATTCCTCAGGTCTGTATTTATGTCTATCATAAAGCAGAGACTTTTTACACTCTACTGAAAGAGCTGATTCACTCAACTGTAAACTTTGCATGGGCAGAAACATGTCTTTTTGGTCTCTTGAGTCTCCAGCATGTGGGGTATCTGTCACAAAGTAGGCAATCAATACATATTTATTTGCAGAATCAAGGGCAGGATGTGGACAAGTGCTGCCACCTATTGGGAGAAACTTTATTTGACTCTAAGGATTTGGACTATGGTTATCACACAAGGACGAAACTTGATACTCTCTCTCATCTAAGTTATCATTAGTTAGACCCTCTATGGTAGCCAGCCTCCAGGATGGCCCGCAGCGATCCCTGTCTGTTGGCATTCATACCTTTGGCTGGATCCTCTCACACATAGGGTTGGTTTGTAAATATGACAAAAGCCGTATGTGACCTCTGGAGCTAGGTCATAAAAGACATTGTGGCTTATACCTTGGTCTCTCTGGGATCACCTGCTCTGAAGGAAGCCAGCTGCCATGTCATGGGGACACTCAAACAGCCCTATGGGGAGGTTCACGTGGTGAAAACAGGTCTCTGGCCAACAGTCATGACTGTGCCATCCTGGAGGCCGATCCTCCAGCCCTAGTCAATAACTGCTGCCCTGGCCTACAGTTTGTAATCTCATGGGAGACCTGGAGACAGAACCACCCAGCCACGCATCCCCAAATCCCTTTACCTCTAAAACCTGTGGGACAACAAATGTTTATTGCGTTAAACTTTGGGGTGATTGTTATGCAGCCACAGAGTTCTAATAAACTGTCGGACATAGATTACTGGCTACAAATAGTTCTACTTTTTTTTTGAGACAGGGTCTCGTTCTGTGGAACCAGGCTGAGGTGCAGTGGTGCGATCACAGCTCATTGAGGCCTCGACCTCCGGGCTCAATCGACCCTCCCGCCTCAGCCACCCAACTAGCTGGGACTACAGGCAGGCGCCACCACACCTAATTTTTTGTATTTTTTGTAGAGATGGGGGGGGGGGTTTCACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAACGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAACCTAAGGATTAACCTAAGGCTTCTCAGAGCAGATGCCGCTGGAACTGAGGGCCACGGAAGAAAGGGGGTGACACTTGGTCCTGGGGAGTGGCGACTGTATTGTCTGTCTGCAGCATCCCTATCAGCGCTACCGTTGTTCCACGCACACAGGGAGTAAGTACTGGGAGTCCCAGCCACCGCCGCGGAAAATCTGGGATGCCAGCGAGCGGCCGCATCTCGGCGCCTGCGCACTGTGCCCGCGCTCTCAGGCAGCGCCGTTGCGCGCGGAGTCATCGATCGGCCGACCCCGAGAGGCCCGGTTCCTTTAGGCCGCCTGCCCGCCTCCAGCTCTCGGGGTCGGCTCCAGGAGGCGCCCTCAGGAGAGGGGCGGGCGCTCTATTCCAGAGACCGAGTGGCAGGGCGGCCACTGTGGCGGGGCTCTTTCCCCGTTTCGCCTCAGCTACCCCTCAGCTCCGGTAGTCGCCAGTCCGGGGTCGTCGCCGTTTGGGGCGGGAGCTGCTCGGCCCCGCCGCCGTCCCCGTCGCCGCTTCCGGGTCCAGGCCCCTCGGGCCGCCTGCCGCCGTCATGAGGCTGCGGGTGCGGCTTCTGAAGCGGACCTGGCCGCTGGAGGTGCCCGAGACGGAGCCGATGCTGGGGCATTTGCGCTCGCACCTGAGGCAGTCCCTGCTGTGCACCTGGGGGTACAGGTACGCTGGGGCCGGGGCTGGGCGGCCCGCGGGGAGTGGGGAGTGCTTGGGGTGGGTGCAGGGCGGGTTGGCGTCATCTGTGGGCTGCAGGCGCGGGCGTGGCCGGGCGATAGGCCAAGTGCGGGGACGCCGGGGGGGCCTTCACGGGAGGCCCGGGCTCTTCCGGGCGTCGCGGAGCCGGAGGGTGCAGGCGACGGGAAGCGCGGGTGGTCGGCTGGGGTCCGGCTCCTGGAGAACATGGCCCGGCCTCCCGGGGGCTCTGGTCCCCTCCTCGGTGAGTCATGGCTTCTGGTTTTGCAGTAAACGGAACCAGGGAGAGGAGGGAACGCACAATTTCCACAACTGGTTAGATTTCAAGTTGGAAATGATGAGCTTGGCTTGGGTTAAACCTTTCTGGACTGTGAGGGGTCCGAGTTAATTTCTTCAGCTGTTGGAGTATTTCAATGAAAAAGTTTGGAAATTGCTAGAAGTTAAAAATCTGCCCTCAATCCGAGGCCACCGGTAGCTTGTATCGCTGCTGTGAAGCGGCAACAATTTTAGATTCTGTTGTGTTCATGCGCCGAGCACCGCGGTGAGCGCTTGGACTTCGCCGCCGAAAAGTTTTAGAAAGGACAGCGTGTAGGCGTGTTTCAGACCATTTCATTTTCTTGGGTGAAATGTTGCTTTTTTGCTAAAACTGAGGCAAACGTTGATCTTGAGAGCTTGCAGTTTGGGGGCAGTAAAGTTGAGAAAGGATCATATTCTGTTATTGGTTTGTGGGACTGCAGGTGAAGCTGCTTTGTTTCCCTAAAAGATACTTTTTGGGGACAATAATTTGGGAGTAAAGCGGCAAGGTAAGAGTGGTCCTCTTCAAATACTGAGCTAGTGAATTTGAAACTTGAGTGTGCTAAGGAAAAATGAAAAAGATGTTCCCTGGGGATTTTTAGGTGAATTCTTCAAAACAAAAGCAAACCTTCCTACGTTTTCACCTTATTTTTAGGGAATTGGGTAAAATGAGGCCGTTATTCTGAACTTCTCGCCCTTTCATTTTCCTGGTTAAGACATTATTAGATTGAAAGTAAGCCTGTTTTCTTCCTGATTAAAAAAAAAACCCTAAATAAGATACTGACATAACTCCTTTTAAACATTATAGTAAGTGACATGCCTACTGTTATTTCTTGTTGTTAAACCTGTGTGTTTTACATACTGGCATCGTTACCAGTAGGTTACGAGTAGAAGATTGAATAAATCTTCAAACTTATTTTTTAAAGGTATTACCAAGTATATATATATTTTATTATTTTTAAATTAGGCAGTCTTGAAAGGACGTGAAACTCAATATGACTGCCCAAAAGGGCACGTTGGTTTCTCTTTCAGATTTCTTTTTACAGTTGAGGCTGGTTACCTGGACAGAATTTAAGCTTCAGCTTGTGAAAGTAAACTCATTTTTTCTGAAAGTATACTCATTTTCTAATAAAGGTGCAGTTTTAAAATATGTCCATGTGATATTATTTTAAAAATATCTTTACTGAGCAAGTGGAGCTAGGATTGTCATGAAATGCTTTTATTTGTTTTGTTTTTGTTTTTTAAGAGAAAAGTGAAAGCAAGTTTATTAAGAAAGTAAAGGAATAAAAGAATGGCTACTCCATAGGCAGAGCTGCCATGAAATACTTCTAAGAAGGCTGGAGTTTCTAGAATTTCATTTCCTGGAATTAAATACTCCTCTTAACGCCCCAATTTCAGAGGTAGAATCCTGGAAAACTATATATTACTTTAGAAATAGCTTTTCCCTTTTTCTAAAGTGGGAGGAAGAGCTGGTATATTTATTAAGCGGACCATGACCTTTTCTGCAAACAGATACTTGAACGTACCTTGTACTAGATACTGTTTTAAAAAGCAACCTTTTGCTGTGACAAATGACCCATAAACACATAGTTCATTTGAGGTGTTTTTGCTTTTTCTGCCAAAGTTGGGGTGGTGTTTTTGTGGGCAAATGGCAGATTTTCAACGT
Task1_train_28724
Here’s a variant in FBXO7 (F-box protein 7) located on Chromosome 22. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Parkinsonian-pyramidal syndrome
AGAATAGTAAGTATACTTAATATTCTTGGTGAGTATGACATCTGACTGCCCTCTTTTCTGCTCCTGGCGAAATGTTCCTCTTCTAAGACTAAGCTTAATATTCCTTAAGTGCTATTTACTTTATCTTTGTATCTCCATGCCATTTTGTACATATTTTTATTGTAGTCTCTTTTCCATGGACTATAATTGTTGATATGATTTCTTTCCACCTAAGGTTGGGAATACCTTGAAGGTAGGGAATATATCTTACTTTTGTATTCTTGTGGTCTAGCATGAGGTCAGGTACATAATAGATGCTCTTTCTCTCTGTGTAGATACATATATATATGTCTATATAGACATATATTTAGATATATATGTCTATATAGACATATATTTAGATATATATGTCTATATAGACATATATAAATAATACATGGTCTGTAATTGGATCTAAGTTTTTTTTTTTAAACCATTTATTGGAGGCTCTTTGCAGGCACTTAGTTGGATATTTCACATGCATTCTTATTTACTGCTAATGACTTCGAAGTAAATTATGTGGTACTTATTTTATAGATGATGAAATCATAATTCAATAAGGTTTATAATTCACTCGAGATCCTTATATTAGCTTCTCATTTTTTTGCAGTTAAAAAAATTAAAATCTCAGTGTCTTACAGTGAAATTTACTTCTCACTCGTGTACATGTTGTGTGTGGGTTTGCTTTGGCTGAAGGAGTTGTCTTTATCCAGGACATGCTCCTCTTGTAGTAGAAGGAAAGGAGTGCCAGTGGCCCAATTATGTGTTGGTTCAACGCTTTTGCCCAGAAATTATATATGTCACTTCCACTCACGTTTTGTCAGAAAAAATAAGACAAAAATGGCCAAGCCTGATGGTGGTGGGATGGGGAAGTATAATTATGCGTAGGAAGTGATTGAGAACCATAATACAATCTACCACAATTCTCCAACTAGTAGGTAGTTTGACTTATATGAATAGATAGTGGCTTTTATTTGCTCTCTATATGTAGAGAAATAAGTAAAACGTTTTTGGTGTCAAGTTGAATGGTGGCATGTCTATTATTACAGTAGTCTTCTCTGTAGTTGGTGATAAGGGAAAGGGAGTAATGCCAATTGAAAAACATGTAGATATGTCTGTTGGATTTTGATTATTTTTGCTAGTGGAGAATAGTATCACAAATATTTTGAAGGTGCTAATAACCAAAACATAATTTTCATTGAACTTGGGACATATTATTTTTCCTTTCCTTTCTTGGCTTTGTTTCTGAATTTATCTATCTCTTTTTAGCCTGCTAGACTTCAGATAATAGTAATTTGCTAACACTTGAGTGCTTATGCTTGGTGTGCCAAACATTGTTCTAAGCACTTAATATGTGTTAATACATTTACTTCTCACAACTCATTGAAGTAGGTGGAATGTAATATTAATCCATTTTACAGATGAAATTAAGATAGCATTTAAATAACTTGTCCAAAGGCACACAGTTAATAACTGGCATGGAAACAGATATAAAAGCCAGTGAATTATTCATTTTCTGTAGTTGAATGAAGAAATTTTGTTGTATTGAATAATGTTTGAGACAGAAGAGACCATTGGCTAGTATTTAGCAATTATCATAGTTATTTGATTTATATTAAAAAGCATTTGTCTTTCCACTAAAACATAAAGGGAATAAGGGCCTAGAGTTATATGAGTTAATAGTAATTATAGTCAAGCTGGGGTTAAAAATTTGTTGTAGATGATGCATACTTGGGGATAATTAAGAGTACCATCTAATTTTCTGTCACTTTAGAAAGGAACAAGTGGCAACTTTGTTGACTATGTGGAGAAAGCCAGATGTTCTTTACTCAGTAATACCTGTTACTTCTCTTTTTTTCCTTTTAGCACTGAACCTACCAGATGTATTTGGGTTGGTCGTCCTCCCATTGGAACTGAAACTACGGATCTTCCGACTTCTGGATGTTCGTTCCGTCTTGTCTTTGTCTGCGGTTTGTCGTGACCTCTTTACTGCTTCAAATGACCCACTCCTGTGGAGGTTTTTATATCTGCGTGATTTTCGAGGTGATTTCCGTAATGACATATTCACAAGAAAGGGCTCTTATTGTCTTGATTACTCAGCTCACCAAAAGTTTTTAGTTGTAGGATTTTTCTGTTGCAAATGATTACAATAAATAGCCTTAAAGAGACTGACTCTAAGCTTCATATACCTGTGCCTGTGTCCCTAAAACTCTCTCATTTTTGTGTTTTGCACAACACAAATCACTCATTAGACTAAGAAGATTATTTCAGGATAGAGAAATGGAAGTAAAACAGGCTTATTTTCTCACTAGAGACCATAGTCAGTATCTGACGTAGAAACGAGCTGGCATTTCTGAACTGCTTTCATGGTTGAGACCAATGTGTAAGTTAGGAGAGTTTTGTTGACCTGTTCCAAGTTGCTAGGGTAGCTTTATTTCTGTATGGTCACATTATGGTGACCTGGTAATTATTTTGGCAGTGATGATGGTAGAACTTGTGCATCAGGATTTCCTGCTACAAGGCCAAAAGCCTGATTGTGGAACTTTTTTTTCTGCTACCACCATTTTACTACATATTAGTGTTTTCAGAATGTTTGACCCTGGGGTGGGTCATGAAATCCATTTAATGGGTCATGTTACAAAAAAACAAAACCCACAATGGAAAAATCCATATTTATTTTATAAATAGTATTCCTATTTATAAAATAGGAGTAAACTTCTATTTCAATTATGTATAGGTAGGTGTATACTGTGTTGCAATGTAAAATTTTTATGTGGTTCACATAAATGTTTGAATGATACTGCTATATGTGATGTTAACACATACCACCTTAGTAACTGTAAAAATGTGGTGGGTAGATAGCTCCCTTAAAAAAAAAAAAAAAAAAAAGAATATCATGTAGAGTCATTTGGATTGCTAAAATTTTTTTTTCTTTTAAAATTTCAAAATGTGAGAAGTGTAAATGACCTGGTTTGTTCCTTTTCTTCTTCTTTGATTCCTGAGGTCCTCTTTCTGCTTTATTTATGCCCCTGAATTTGACATTTAAAATGTTATTTTGTCACAATTGGCAGCAAGAAAGCATCATCTCAAAAAATAATTCAATTTTATTTATTTGTGTATTTTTGAGACAGGGTCTAGTTGTGTTGCCCTGGAGTGCAGTGGCGCAGTCATAGCTCACTGCCACCCCCAACTCCTGGGCTCAAGTGATCCTCCCTCCTCAGCCTCATAAGTAGCTGAGAACTGTAGGCATGCGCCCCCACACCTGGCCAATTTTTGTTTGTTTGTTTGTTTGTTTTTAGTGGAGACAAAGTCTTGCAGTGTTGCTCAGGCTGGTCTCCAACTCAAAAAAGAATTGAAAATATAGTAAAAAAAGAAAAGACAGAATGACTGATGTATATGGAAGCACCGAGAAAAAGCAGAGTATGATATAAATACTTATAAAAGCAACAAATACCCTTTCACTTGTATATTCAAGTTTAGGATTAAAGCACAATTATTCTTTAATTTTTAGATTGTGGCCCACAAGCTCATTTGTAAGCTGTTCAGATTTTTCTGTAGATAAAATGTTACGGAGCTAGAGCTTTTATAAATCTTACTTCCATGCTAATGTAGTAACTTGTAGAGAAGATATCATCTTTTATTCAAACTCTTTTGTATACTTAAAGTTGAATGGGTTTCTCTTTCCTCATTTCACATATTTCAAATAAATAAGTACATTAAAAAATACTTAGTTATGGTCATGCTTCTGATAGCCGAGTCATTCAGGACATCGTTGGGAGAAAGTAGTGTAACCAGAATATGGATGAAAGCCTAAGTCAGCTTGACCTCCAGTAATGAACGTGGGCTGTAACACAGAAGCTCAGAGGTTGTTGCCCAGTTTGGTGTAACGTGAGATGTTGGATTAGAAGCAGGTGACACACCTAAATGAGATTAGGGGGAGAAGAGGTAGTGTAGGACCAGTTAATGCAGGAAGAGAGTAGCCACATGTTCCTCCATAGTCCCTGAGGAATCACACTGCATTGAATTACCATGTAGCACAGAGCAGCAATGATCACCCTTAACCATCAATAAAGTGTTT
AGAATAGTAAGTATACTTAATATTCTTGGTGAGTATGACATCTGACTGCCCTCTTTTCTGCTCCTGGCGAAATGTTCCTCTTCTAAGACTAAGCTTAATATTCCTTAAGTGCTATTTACTTTATCTTTGTATCTCCATGCCATTTTGTACATATTTTTATTGTAGTCTCTTTTCCATGGACTATAATTGTTGATATGATTTCTTTCCACCTAAGGTTGGGAATACCTTGAAGGTAGGGAATATATCTTACTTTTGTATTCTTGTGGTCTAGCATGAGGTCAGGTACATAATAGATGCTCTTTCTCTCTGTGTAGATACATATATATATGTCTATATAGACATATATTTAGATATATATGTCTATATAGACATATATTTAGATATATATGTCTATATAGACATATATAAATAATACATGGTCTGTAATTGGATCTAAGTTTTTTTTTTTAAACCATTTATTGGAGGCTCTTTGCAGGCACTTAGTTGGATATTTCACATGCATTCTTATTTACTGCTAATGACTTCGAAGTAAATTATGTGGTACTTATTTTATAGATGATGAAATCATAATTCAATAAGGTTTATAATTCACTCGAGATCCTTATATTAGCTTCTCATTTTTTTGCAGTTAAAAAAATTAAAATCTCAGTGTCTTACAGTGAAATTTACTTCTCACTCGTGTACATGTTGTGTGTGGGTTTGCTTTGGCTGAAGGAGTTGTCTTTATCCAGGACATGCTCCTCTTGTAGTAGAAGGAAAGGAGTGCCAGTGGCCCAATTATGTGTTGGTTCAACGCTTTTGCCCAGAAATTATATATGTCACTTCCACTCACGTTTTGTCAGAAAAAATAAGACAAAAATGGCCAAGCCTGATGGTGGTGGGATGGGGAAGTATAATTATGCGTAGGAAGTGATTGAGAACCATAATACAATCTACCACAATTCTCCAACTAGTAGGTAGTTTGACTTATATGAATAGATAGTGGCTTTTATTTGCTCTCTATATGTAGAGAAATAAGTAAAACGTTTTTGGTGTCAAGTTGAATGGTGGCATGTCTATTATTACAGTAGTCTTCTCTGTAGTTGGTGATAAGGGAAAGGGAGTAATGCCAATTGAAAAACATGTAGATATGTCTGTTGGATTTTGATTATTTTTGCTAGTGGAGAATAGTATCACAAATATTTTGAAGGTGCTAATAACCAAAACATAATTTTCATTGAACTTGGGACATATTATTTTTCCTTTCCTTTCTTGGCTTTGTTTCTGAATTTATCTATCTCTTTTTAGCCTGCTAGACTTCAGATAATAGTAATTTGCTAACACTTGAGTGCTTATGCTTGGTGTGCCAAACATTGTTCTAAGCACTTAATATGTGTTAATACATTTACTTCTCACAACTCATTGAAGTAGGTGGAATGTAATATTAATCCATTTTACAGATGAAATTAAGATAGCATTTAAATAACTTGTCCAAAGGCACACAGTTAATAACTGGCATGGAAACAGATATAAAAGCCAGTGAATTATTCATTTTCTGTAGTTGAATGAAGAAATTTTGTTGTATTGAATAATGTTTGAGACAGAAGAGACCATTGGCTAGTATTTAGCAATTATCATAGTTATTTGATTTATATTAAAAAGCATTTGTCTTTCCACTAAAACATAAAGGGAATAAGGGCCTAGAGTTATATGAGTTAATAGTAATTATAGTCAAGCTGGGGTTAAAAATTTGTTGTAGATGATGCATACTTGGGGATAATTAAGAGTACCATCTAATTTTCTGTCACTTTAGAAAGGAACAAGTGGCAACTTTGTTGACTATGTGGAGAAAGCCAGATGTTCTTTACTCAGTAATACCTGTTACTTCTCTTTTTTTCCTTTTAGCACTGAACCTACCAGATGTATTTGGGTTGGTCGTCCTCCCATTGGAACTGAAACTACGGATCTTCCGACTTCTGGATGTTCGTTCCGTCTTGTCTTTGTCTGCGGTTTGTCGTGACCTCTTTACTGCTTCAAATGACCCACTCCTGTGGAGGTTTTTATATCTGGGTGATTTTCGAGGTGATTTCCGTAATGACATATTCACAAGAAAGGGCTCTTATTGTCTTGATTACTCAGCTCACCAAAAGTTTTTAGTTGTAGGATTTTTCTGTTGCAAATGATTACAATAAATAGCCTTAAAGAGACTGACTCTAAGCTTCATATACCTGTGCCTGTGTCCCTAAAACTCTCTCATTTTTGTGTTTTGCACAACACAAATCACTCATTAGACTAAGAAGATTATTTCAGGATAGAGAAATGGAAGTAAAACAGGCTTATTTTCTCACTAGAGACCATAGTCAGTATCTGACGTAGAAACGAGCTGGCATTTCTGAACTGCTTTCATGGTTGAGACCAATGTGTAAGTTAGGAGAGTTTTGTTGACCTGTTCCAAGTTGCTAGGGTAGCTTTATTTCTGTATGGTCACATTATGGTGACCTGGTAATTATTTTGGCAGTGATGATGGTAGAACTTGTGCATCAGGATTTCCTGCTACAAGGCCAAAAGCCTGATTGTGGAACTTTTTTTTCTGCTACCACCATTTTACTACATATTAGTGTTTTCAGAATGTTTGACCCTGGGGTGGGTCATGAAATCCATTTAATGGGTCATGTTACAAAAAAACAAAACCCACAATGGAAAAATCCATATTTATTTTATAAATAGTATTCCTATTTATAAAATAGGAGTAAACTTCTATTTCAATTATGTATAGGTAGGTGTATACTGTGTTGCAATGTAAAATTTTTATGTGGTTCACATAAATGTTTGAATGATACTGCTATATGTGATGTTAACACATACCACCTTAGTAACTGTAAAAATGTGGTGGGTAGATAGCTCCCTTAAAAAAAAAAAAAAAAAAAAGAATATCATGTAGAGTCATTTGGATTGCTAAAATTTTTTTTTCTTTTAAAATTTCAAAATGTGAGAAGTGTAAATGACCTGGTTTGTTCCTTTTCTTCTTCTTTGATTCCTGAGGTCCTCTTTCTGCTTTATTTATGCCCCTGAATTTGACATTTAAAATGTTATTTTGTCACAATTGGCAGCAAGAAAGCATCATCTCAAAAAATAATTCAATTTTATTTATTTGTGTATTTTTGAGACAGGGTCTAGTTGTGTTGCCCTGGAGTGCAGTGGCGCAGTCATAGCTCACTGCCACCCCCAACTCCTGGGCTCAAGTGATCCTCCCTCCTCAGCCTCATAAGTAGCTGAGAACTGTAGGCATGCGCCCCCACACCTGGCCAATTTTTGTTTGTTTGTTTGTTTGTTTTTAGTGGAGACAAAGTCTTGCAGTGTTGCTCAGGCTGGTCTCCAACTCAAAAAAGAATTGAAAATATAGTAAAAAAAGAAAAGACAGAATGACTGATGTATATGGAAGCACCGAGAAAAAGCAGAGTATGATATAAATACTTATAAAAGCAACAAATACCCTTTCACTTGTATATTCAAGTTTAGGATTAAAGCACAATTATTCTTTAATTTTTAGATTGTGGCCCACAAGCTCATTTGTAAGCTGTTCAGATTTTTCTGTAGATAAAATGTTACGGAGCTAGAGCTTTTATAAATCTTACTTCCATGCTAATGTAGTAACTTGTAGAGAAGATATCATCTTTTATTCAAACTCTTTTGTATACTTAAAGTTGAATGGGTTTCTCTTTCCTCATTTCACATATTTCAAATAAATAAGTACATTAAAAAATACTTAGTTATGGTCATGCTTCTGATAGCCGAGTCATTCAGGACATCGTTGGGAGAAAGTAGTGTAACCAGAATATGGATGAAAGCCTAAGTCAGCTTGACCTCCAGTAATGAACGTGGGCTGTAACACAGAAGCTCAGAGGTTGTTGCCCAGTTTGGTGTAACGTGAGATGTTGGATTAGAAGCAGGTGACACACCTAAATGAGATTAGGGGGAGAAGAGGTAGTGTAGGACCAGTTAATGCAGGAAGAGAGTAGCCACATGTTCCTCCATAGTCCCTGAGGAATCACACTGCATTGAATTACCATGTAGCACAGAGCAGCAATGATCACCCTTAACCATCAATAAAGTGTTT
Task1_train_28725
A mutation found in SYN3, TIMP3 (synapsin III| TIMP metallopeptidase inhibitor 3) on Chromosome 22 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Retinal dystrophy
GATGTTCCTTTTGCCCACAGATGTACCGAGGCTTCACCAAGATGCCCCATGTGCAGTACATCCATACGGAAGCTTCCGAGAGTCTCTGTGGCCTTAAGCTGGAGGTCAACAAGTACCAGTACCTGCTGACAGGTAATGGCCAACTCTAGCTTCTAGGCCAGGGTTTGGCCAAGGTCCACTGTTTCTTGACTTCAGAAGAACACATACGGAGTAGTTGACTCACCAAATGTCCAGTAAATTGTAAGGAGTCTCTAATGTTGAATTCATCCCACTTACCCAGTGCTAGGAGCTTGAGGCTCCTACACTTAGGCTGGACTTTGGAATTAGCTCCACCACTCACCTGGGGGAGGAAATCTCCTAATTTGTAGCTTCTCAACTTTACTGTAAATAAAAAGGGAGTATCTGTTCCTCTCCACCTCACACTCGACCTGTTAGGCCCGTCTTTGAAAGTTATTCATCTTTAGGCAGTCAGTGTAGTAAAGGAGAAAACAAAAACAAAAATCATTATAAAGGGAGTGAAGAGTTGGCCTCTAGTCCTAGCTCCAGTATTTAATGGGCTTGGGACCTTTGGCAAATCACTTTACCTCTCCAAGCCTCATTATCCTCATCTGGAAAATGGGGCTACAGTCCATTTTAAAAGGTGTTGGGTAGGGTGAAATAAAATCATGGGTCTGAAAAGTACCCAGCCACAGTGCCTGGGCTAAGTGGGAACATAGTAGGTGTGAATTCTCTCTGGGCTAGGCTCTGGACAAAACAACCTCTCCTTGTTTTCTTCTTTCCTCCTGTAGGTCGCGTCTATGATGGCAAGATGTACACGGGGCTGTGCAACTTCGTGGAGAGGTGGGACCAGCTCACCCTCTCCCAGCGCAAGGGGCTGAACTATCGGTATCACCTGGGTTGTAACTGCAAGGTAAGCTCTGGGGTCACTGGGGGAAGGAGGGGAGGTGCTGACTTGCAGCCCTAGAAACATCAGCTCCCAATGCACTGGGTGCCAGGCCCTCGGCTGGGAAGGGTATGCATGTGTTAGGCCAGGGCAGAGGGGCAGGTCTGAGCAGATATAGTAAGGATTGTTGCCCCAGGTGGGGCAGTGAGGAAGGCAGGGAAGGAAGAATGCCTTTCTGCTGTAATCGGCTGCCTCCATGATGACCACTTGGAAGCTGCTGGGGCATGAGGGCTCTTGAGTCCCTGGCCCCACCTGGCAGTTCAAGGCTGGAGGTATAGGATCCTGACACTGGCAGGTTCTCCCAAGTGGTTTCAAGTGGGCTCACCCTGGTAGCTGACTCATCGCTAACCCCACCCCAGGTAGGCAAATGGGCCCAGGACTGCAGAGACCAGATGCTACAGAAGGTCTCTCTTTACCAGGCCCATCCCCCTGACCCAAGTATAGGGCCAAGGTGCAGCCTGCCTGCTGTGGGAGGAAGTTGGGCCATTCTCTCACTTCATCTTCAAAACAGTCCTGTGTGGTTTTAATTACTATGATCTCCATTCTGCAGATGAGAGCTCAGAGAACTTAAGTAACTAGCCCTAGGTCCCACAGTTCACTGAATCTGGTTTCCAACCTAGGGCAGCTAGACTCCAAAGTTTATGCTCTAACCTTTCTAATTCCTCGATTCCCTAAAACAACTGAGATCTCCCACCTGAGACGAAAAAGTCCTCTCAGTAGTCTAATTCTGCTACTTACTGGCTGTGTGACCTGCAGCAAGTTACTTAACCTCTCAGAGCCTCCTAAAACTGTGATAAGAATTAAAGAGAATAATATCAAAGCACTTATCAGAATGTCTGTTAGACAGCAGATGCTCAAGCTAGTGCTATTTATATTATGATCACTGAGGGACTGATGTGGCTAGGCTTCCCATGCAGTGGCCCCAGGGTCTGAATCCAGGCTCGGTAGCCTCAGGCCTGGGCATACCATGGCAGAGTCCATCAACTGCTGCCTGTTATCTAATTGCAGATCAAGTCCTGCTACTACCTGCCTTGCTTTGTGACTTCCAAGAACGAGTGTCTCTGGACCGACATGCTCTCCAATTTCGGTTACCCTGGCTACCAGTCCAAACACTACGCCTGCATCCGGCAGAAGGGCGGCTACTGCAGCTGGTACCGAGGATGGGCCCCCCCGGATAAAAGCATCATCAATGCCACAGACCCCTGAGCGCCAGACCCTGCCCCACCTCACTTCCCTCCCTTCCCGCTGAGCTTCCCTTGGACACTAACTCTTCCCAGATGATGACAATGAAATTAGTGCCTGTTTTCTTGCAAATTTAGCACTTGGAACATTTAAAGAAAGGTCTATGCTGTCATATGGGGTTTATTGGGAACTATCCTCCTGGCCCCACCCTGCCCCTTCTTTTTGGTTTTGACATCATTCATTTCCACCTGGGAATTTCTGGTGCCATGCCAGAAAGAATGAGGAACCTGTATTCCTCTTCTTCGTGATAATATAATCTCTATTTTTTTAGGAAAACAAAAATGAAAAACTACTCCATTTGAGGATTGTAATTCCCACCCCTCTTGCTTCTTCCCCACCTCACCATCTCCCAGACCCTCTTCCCTTTGCCCTTCTCCTCCAATACATAAAGGACACAGACAAGGAACTTGCTGAAAGGCCAACCATTTCAGGATCAGTCAAAGGCAGCAAGCAGATAGACTCAAGGTGTGTGAAAGATGTTATACACCAGGAGCTGCCACTGCATGTCCCAACCAGACTGTGTCTGTCTGTGTCTGCATGTAAGAGTGAGGGAGGGAAGGAAGGAACTACAAGAGAGTCGGAGATGATGCAGCACACACACAATTCCCCAGCCCAGTGATGCTTGTGTTGACCAGATGTTCCTGAGTCTGGAGCAAGCACCCAGGCCAGAATAACAGAGCTTTCTTAGTTGGTGAAGACTTAAACATCTGCCTGAGGTCAGGAGGCAATTTGCCTGCCTTGTACAAAAGCTCAGGTGAAAGACTGAGATGAATGTCTTTCCTCTCCCTGCCTCCCACCAGACTTCCTCCTGGAAAACGCTTTGGTAGATTTGGCCAGGAGCTTTCTTTTATGTAAATTGGATAAATACACACACCATACACTATCCACAGATATAGCCAAGTAGATTTGGGTAGAGGATACTATTTCCAGAATAGTGTTTAGCTCACCTAGGGGGATATGTTTGTATACACATTTGCATATACCCACATGGGGACATAAGCTAATTTTTTTACAGGACACAGAATTCTGTTCAATGCTGTTAAATATGCCAATAGTTTAATCTCTTCTATTTTGTTGTCGTTGCTTGTTTGAAGAAAATCATGACATTCCAAGTTGACATTTTTTTTTCATTTTAATTAAAATTTGAAATTCTGAACACCGTCAGCACCCTCTCTTCCCTATCATGGGTCATCTGACCCCTGTCCGTCTCCTTGTCCCTGCTTCATGTTTGGGGGCCTTTCTTTAACTGCCTTCCTGGCTTAGCTCAGATGGCAGATGAGAGTGTAGTCAAGGGCCTGGGCACAGGAGGGAGAGCTGCAGAGTGTCCTGCCTGCCTTGGCTGGAGGGACACCTCTCCTGGGTGTGGAGACAGCTTGGTTCCCTTTCCCTAGCTCCCTGGTGGGTGAATGCCACCTCCTGAGATCCTCACCTCTTGGAATTAAAATTGTTGGTCACTGGGGAAAGCCTGAGTTTGCAACCAGTTGTAGGGTTTCTGTTGTGTTTTTTTTTTTTTTTTTGAAATAAAACTATAATATAAATTCTCCTATTAAATAAAATTATTTTAAGTTTTAGTGTCAAAAGTGAGATGCTGAGAGTAGGTGATAATGTATATTTTACAGAGTGGGGGTTGGCAGGATGGTGACATTGAACATGATTGCTCTCTGTCTCTTTTTTCAGCTTATGGGTATTTATCTTCTATTAGTATTTGTATCTTCAGTTCATTCCACTTTAGGAAACAGAGCTGCCAATTGAAACAGAAGAAGAAAAAAAAAAAAAGCAGCAGACAACACACTGTAGAGTCTTGCACACACACAAGTGCCCAGGCAAGGTGCTTGGCAGAACCGCAGAGTGGGAAGAGAGTACCGGCATCGGGTTTCCTTGGGATCAATTTCATTACCGTGTACCTTTCCC
GATGTTCCTTTTGCCCACAGATGTACCGAGGCTTCACCAAGATGCCCCATGTGCAGTACATCCATACGGAAGCTTCCGAGAGTCTCTGTGGCCTTAAGCTGGAGGTCAACAAGTACCAGTACCTGCTGACAGGTAATGGCCAACTCTAGCTTCTAGGCCAGGGTTTGGCCAAGGTCCACTGTTTCTTGACTTCAGAAGAACACATACGGAGTAGTTGACTCACCAAATGTCCAGTAAATTGTAAGGAGTCTCTAATGTTGAATTCATCCCACTTACCCAGTGCTAGGAGCTTGAGGCTCCTACACTTAGGCTGGACTTTGGAATTAGCTCCACCACTCACCTGGGGGAGGAAATCTCCTAATTTGTAGCTTCTCAACTTTACTGTAAATAAAAAGGGAGTATCTGTTCCTCTCCACCTCACACTCGACCTGTTAGGCCCGTCTTTGAAAGTTATTCATCTTTAGGCAGTCAGTGTAGTAAAGGAGAAAACAAAAACAAAAATCATTATAAAGGGAGTGAAGAGTTGGCCTCTAGTCCTAGCTCCAGTATTTAATGGGCTTGGGACCTTTGGCAAATCACTTTACCTCTCCAAGCCTCATTATCCTCATCTGGAAAATGGGGCTACAGTCCATTTTAAAAGGTGTTGGGTAGGGTGAAATAAAATCATGGGTCTGAAAAGTACCCAGCCACAGTGCCTGGGCTAAGTGGGAACATAGTAGGTGTGAATTCTCTCTGGGCTAGGCTCTGGACAAAACAACCTCTCCTTGTTTTCTTCTTTCCTCCTGTAGGTCGCGTCTATGATGGCAAGATGTACACGGGGCTGTGCAACTTCGTGGAGAGGTGGGACCAGCTCACCCTCTCCCAGCGCAAGGGGCTGAACTATCGGTATCACCTGGGTTGTAACTGCAAGGTAAGCTCTGGGGTCACTGGGGGAAGGAGGGGAGGTGCTGACTTGCAGCCCTAGAAACATCAGCTCCCAATGCACTGGGTGCCAGGCCCTCGGCTGGGAAGGGTATGCATGTGTTAGGCCAGGGCAGAGGGGCAGGTCTGAGCAGATATAGTAAGGATTGTTGCCCCAGGTGGGGCAGTGAGGAAGGCAGGGAAGGAAGAATGCCTTTCTGCTGTAATCGGCTGCCTCCATGATGACCACTTGGAAGCTGCTGGGGCATGAGGGCTCTTGAGTCCCTGGCCCCACCTGGCAGTTCAAGGCTGGAGGTATAGGATCCTGACACTGGCAGGTTCTCCCAAGTGGTTTCAAGTGGGCTCACCCTGGTAGCTGACTCATCGCTAACCCCACCCCAGGTAGGCAAATGGGCCCAGGACTGCAGAGACCAGATGCTACAGAAGGTCTCTCTTTACCAGGCCCATCCCCCTGACCCAAGTATAGGGCCAAGGTGCAGCCTGCCTGCTGTGGGAGGAAGTTGGGCCATTCTCTCACTTCATCTTCAAAACAGTCCTGTGTGGTTTTAATTACTATGATCTCCATTCTGCAGATGAGAGCTCAGAGAACTTAAGTAACTAGCCCTAGGTCCCACAGTTCACTGAATCTGGTTTCCAACCTAGGGCAGCTAGACTCCAAAGTTTATGCTCTAACCTTTCTAATTCCTCGATTCCCTAAAACAACTGAGATCTCCCACCTGAGACGAAAAAGTCCTCTCAGTAGTCTAATTCTGCTACTTACTGGCTGTGTGACCTGCAGCAAGTTACTTAACCTCTCAGAGCCTCCTAAAACTGTGATAAGAATTAAAGAGAATAATATCAAAGCACTTATCAGAATGTCTGTTAGACAGCAGATGCTCAAGCTAGTGCTATTTATATTATGATCACTGAGGGACTGATGTGGCTAGGCTTCCCATGCAGTGGCCCCAGGGTCTGAATCCAGGCTCGGTAGCCTCAGGCCTGGGCATACCATGGCAGAGTCCATCAACTGCTGCCTGTTATCTAATTGCAGATCAAGTCCTGCTACTACCTGCCTTGCTTTGTGACTTCCAAGAACGAGTGTCTCTGGACCGACATGCTCTCCAATTTCGGTTACCCTGGCTACCAGTGCAAACACTACGCCTGCATCCGGCAGAAGGGCGGCTACTGCAGCTGGTACCGAGGATGGGCCCCCCCGGATAAAAGCATCATCAATGCCACAGACCCCTGAGCGCCAGACCCTGCCCCACCTCACTTCCCTCCCTTCCCGCTGAGCTTCCCTTGGACACTAACTCTTCCCAGATGATGACAATGAAATTAGTGCCTGTTTTCTTGCAAATTTAGCACTTGGAACATTTAAAGAAAGGTCTATGCTGTCATATGGGGTTTATTGGGAACTATCCTCCTGGCCCCACCCTGCCCCTTCTTTTTGGTTTTGACATCATTCATTTCCACCTGGGAATTTCTGGTGCCATGCCAGAAAGAATGAGGAACCTGTATTCCTCTTCTTCGTGATAATATAATCTCTATTTTTTTAGGAAAACAAAAATGAAAAACTACTCCATTTGAGGATTGTAATTCCCACCCCTCTTGCTTCTTCCCCACCTCACCATCTCCCAGACCCTCTTCCCTTTGCCCTTCTCCTCCAATACATAAAGGACACAGACAAGGAACTTGCTGAAAGGCCAACCATTTCAGGATCAGTCAAAGGCAGCAAGCAGATAGACTCAAGGTGTGTGAAAGATGTTATACACCAGGAGCTGCCACTGCATGTCCCAACCAGACTGTGTCTGTCTGTGTCTGCATGTAAGAGTGAGGGAGGGAAGGAAGGAACTACAAGAGAGTCGGAGATGATGCAGCACACACACAATTCCCCAGCCCAGTGATGCTTGTGTTGACCAGATGTTCCTGAGTCTGGAGCAAGCACCCAGGCCAGAATAACAGAGCTTTCTTAGTTGGTGAAGACTTAAACATCTGCCTGAGGTCAGGAGGCAATTTGCCTGCCTTGTACAAAAGCTCAGGTGAAAGACTGAGATGAATGTCTTTCCTCTCCCTGCCTCCCACCAGACTTCCTCCTGGAAAACGCTTTGGTAGATTTGGCCAGGAGCTTTCTTTTATGTAAATTGGATAAATACACACACCATACACTATCCACAGATATAGCCAAGTAGATTTGGGTAGAGGATACTATTTCCAGAATAGTGTTTAGCTCACCTAGGGGGATATGTTTGTATACACATTTGCATATACCCACATGGGGACATAAGCTAATTTTTTTACAGGACACAGAATTCTGTTCAATGCTGTTAAATATGCCAATAGTTTAATCTCTTCTATTTTGTTGTCGTTGCTTGTTTGAAGAAAATCATGACATTCCAAGTTGACATTTTTTTTTCATTTTAATTAAAATTTGAAATTCTGAACACCGTCAGCACCCTCTCTTCCCTATCATGGGTCATCTGACCCCTGTCCGTCTCCTTGTCCCTGCTTCATGTTTGGGGGCCTTTCTTTAACTGCCTTCCTGGCTTAGCTCAGATGGCAGATGAGAGTGTAGTCAAGGGCCTGGGCACAGGAGGGAGAGCTGCAGAGTGTCCTGCCTGCCTTGGCTGGAGGGACACCTCTCCTGGGTGTGGAGACAGCTTGGTTCCCTTTCCCTAGCTCCCTGGTGGGTGAATGCCACCTCCTGAGATCCTCACCTCTTGGAATTAAAATTGTTGGTCACTGGGGAAAGCCTGAGTTTGCAACCAGTTGTAGGGTTTCTGTTGTGTTTTTTTTTTTTTTTTTGAAATAAAACTATAATATAAATTCTCCTATTAAATAAAATTATTTTAAGTTTTAGTGTCAAAAGTGAGATGCTGAGAGTAGGTGATAATGTATATTTTACAGAGTGGGGGTTGGCAGGATGGTGACATTGAACATGATTGCTCTCTGTCTCTTTTTTCAGCTTATGGGTATTTATCTTCTATTAGTATTTGTATCTTCAGTTCATTCCACTTTAGGAAACAGAGCTGCCAATTGAAACAGAAGAAGAAAAAAAAAAAAAGCAGCAGACAACACACTGTAGAGTCTTGCACACACACAAGTGCCCAGGCAAGGTGCTTGGCAGAACCGCAGAGTGGGAAGAGAGTACCGGCATCGGGTTTCCTTGGGATCAATTTCATTACCGTGTACCTTTCCC
Task1_train_28726
Given this variant in gene SYN3, TIMP3 (synapsin III| TIMP metallopeptidase inhibitor 3) on Chromosome 22, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; not provided
CCTTTTGCCCACAGATGTACCGAGGCTTCACCAAGATGCCCCATGTGCAGTACATCCATACGGAAGCTTCCGAGAGTCTCTGTGGCCTTAAGCTGGAGGTCAACAAGTACCAGTACCTGCTGACAGGTAATGGCCAACTCTAGCTTCTAGGCCAGGGTTTGGCCAAGGTCCACTGTTTCTTGACTTCAGAAGAACACATACGGAGTAGTTGACTCACCAAATGTCCAGTAAATTGTAAGGAGTCTCTAATGTTGAATTCATCCCACTTACCCAGTGCTAGGAGCTTGAGGCTCCTACACTTAGGCTGGACTTTGGAATTAGCTCCACCACTCACCTGGGGGAGGAAATCTCCTAATTTGTAGCTTCTCAACTTTACTGTAAATAAAAAGGGAGTATCTGTTCCTCTCCACCTCACACTCGACCTGTTAGGCCCGTCTTTGAAAGTTATTCATCTTTAGGCAGTCAGTGTAGTAAAGGAGAAAACAAAAACAAAAATCATTATAAAGGGAGTGAAGAGTTGGCCTCTAGTCCTAGCTCCAGTATTTAATGGGCTTGGGACCTTTGGCAAATCACTTTACCTCTCCAAGCCTCATTATCCTCATCTGGAAAATGGGGCTACAGTCCATTTTAAAAGGTGTTGGGTAGGGTGAAATAAAATCATGGGTCTGAAAAGTACCCAGCCACAGTGCCTGGGCTAAGTGGGAACATAGTAGGTGTGAATTCTCTCTGGGCTAGGCTCTGGACAAAACAACCTCTCCTTGTTTTCTTCTTTCCTCCTGTAGGTCGCGTCTATGATGGCAAGATGTACACGGGGCTGTGCAACTTCGTGGAGAGGTGGGACCAGCTCACCCTCTCCCAGCGCAAGGGGCTGAACTATCGGTATCACCTGGGTTGTAACTGCAAGGTAAGCTCTGGGGTCACTGGGGGAAGGAGGGGAGGTGCTGACTTGCAGCCCTAGAAACATCAGCTCCCAATGCACTGGGTGCCAGGCCCTCGGCTGGGAAGGGTATGCATGTGTTAGGCCAGGGCAGAGGGGCAGGTCTGAGCAGATATAGTAAGGATTGTTGCCCCAGGTGGGGCAGTGAGGAAGGCAGGGAAGGAAGAATGCCTTTCTGCTGTAATCGGCTGCCTCCATGATGACCACTTGGAAGCTGCTGGGGCATGAGGGCTCTTGAGTCCCTGGCCCCACCTGGCAGTTCAAGGCTGGAGGTATAGGATCCTGACACTGGCAGGTTCTCCCAAGTGGTTTCAAGTGGGCTCACCCTGGTAGCTGACTCATCGCTAACCCCACCCCAGGTAGGCAAATGGGCCCAGGACTGCAGAGACCAGATGCTACAGAAGGTCTCTCTTTACCAGGCCCATCCCCCTGACCCAAGTATAGGGCCAAGGTGCAGCCTGCCTGCTGTGGGAGGAAGTTGGGCCATTCTCTCACTTCATCTTCAAAACAGTCCTGTGTGGTTTTAATTACTATGATCTCCATTCTGCAGATGAGAGCTCAGAGAACTTAAGTAACTAGCCCTAGGTCCCACAGTTCACTGAATCTGGTTTCCAACCTAGGGCAGCTAGACTCCAAAGTTTATGCTCTAACCTTTCTAATTCCTCGATTCCCTAAAACAACTGAGATCTCCCACCTGAGACGAAAAAGTCCTCTCAGTAGTCTAATTCTGCTACTTACTGGCTGTGTGACCTGCAGCAAGTTACTTAACCTCTCAGAGCCTCCTAAAACTGTGATAAGAATTAAAGAGAATAATATCAAAGCACTTATCAGAATGTCTGTTAGACAGCAGATGCTCAAGCTAGTGCTATTTATATTATGATCACTGAGGGACTGATGTGGCTAGGCTTCCCATGCAGTGGCCCCAGGGTCTGAATCCAGGCTCGGTAGCCTCAGGCCTGGGCATACCATGGCAGAGTCCATCAACTGCTGCCTGTTATCTAATTGCAGATCAAGTCCTGCTACTACCTGCCTTGCTTTGTGACTTCCAAGAACGAGTGTCTCTGGACCGACATGCTCTCCAATTTCGGTTACCCTGGCTACCAGTCCAAACACTACGCCTGCATCCGGCAGAAGGGCGGCTACTGCAGCTGGTACCGAGGATGGGCCCCCCCGGATAAAAGCATCATCAATGCCACAGACCCCTGAGCGCCAGACCCTGCCCCACCTCACTTCCCTCCCTTCCCGCTGAGCTTCCCTTGGACACTAACTCTTCCCAGATGATGACAATGAAATTAGTGCCTGTTTTCTTGCAAATTTAGCACTTGGAACATTTAAAGAAAGGTCTATGCTGTCATATGGGGTTTATTGGGAACTATCCTCCTGGCCCCACCCTGCCCCTTCTTTTTGGTTTTGACATCATTCATTTCCACCTGGGAATTTCTGGTGCCATGCCAGAAAGAATGAGGAACCTGTATTCCTCTTCTTCGTGATAATATAATCTCTATTTTTTTAGGAAAACAAAAATGAAAAACTACTCCATTTGAGGATTGTAATTCCCACCCCTCTTGCTTCTTCCCCACCTCACCATCTCCCAGACCCTCTTCCCTTTGCCCTTCTCCTCCAATACATAAAGGACACAGACAAGGAACTTGCTGAAAGGCCAACCATTTCAGGATCAGTCAAAGGCAGCAAGCAGATAGACTCAAGGTGTGTGAAAGATGTTATACACCAGGAGCTGCCACTGCATGTCCCAACCAGACTGTGTCTGTCTGTGTCTGCATGTAAGAGTGAGGGAGGGAAGGAAGGAACTACAAGAGAGTCGGAGATGATGCAGCACACACACAATTCCCCAGCCCAGTGATGCTTGTGTTGACCAGATGTTCCTGAGTCTGGAGCAAGCACCCAGGCCAGAATAACAGAGCTTTCTTAGTTGGTGAAGACTTAAACATCTGCCTGAGGTCAGGAGGCAATTTGCCTGCCTTGTACAAAAGCTCAGGTGAAAGACTGAGATGAATGTCTTTCCTCTCCCTGCCTCCCACCAGACTTCCTCCTGGAAAACGCTTTGGTAGATTTGGCCAGGAGCTTTCTTTTATGTAAATTGGATAAATACACACACCATACACTATCCACAGATATAGCCAAGTAGATTTGGGTAGAGGATACTATTTCCAGAATAGTGTTTAGCTCACCTAGGGGGATATGTTTGTATACACATTTGCATATACCCACATGGGGACATAAGCTAATTTTTTTACAGGACACAGAATTCTGTTCAATGCTGTTAAATATGCCAATAGTTTAATCTCTTCTATTTTGTTGTCGTTGCTTGTTTGAAGAAAATCATGACATTCCAAGTTGACATTTTTTTTTCATTTTAATTAAAATTTGAAATTCTGAACACCGTCAGCACCCTCTCTTCCCTATCATGGGTCATCTGACCCCTGTCCGTCTCCTTGTCCCTGCTTCATGTTTGGGGGCCTTTCTTTAACTGCCTTCCTGGCTTAGCTCAGATGGCAGATGAGAGTGTAGTCAAGGGCCTGGGCACAGGAGGGAGAGCTGCAGAGTGTCCTGCCTGCCTTGGCTGGAGGGACACCTCTCCTGGGTGTGGAGACAGCTTGGTTCCCTTTCCCTAGCTCCCTGGTGGGTGAATGCCACCTCCTGAGATCCTCACCTCTTGGAATTAAAATTGTTGGTCACTGGGGAAAGCCTGAGTTTGCAACCAGTTGTAGGGTTTCTGTTGTGTTTTTTTTTTTTTTTTTGAAATAAAACTATAATATAAATTCTCCTATTAAATAAAATTATTTTAAGTTTTAGTGTCAAAAGTGAGATGCTGAGAGTAGGTGATAATGTATATTTTACAGAGTGGGGGTTGGCAGGATGGTGACATTGAACATGATTGCTCTCTGTCTCTTTTTTCAGCTTATGGGTATTTATCTTCTATTAGTATTTGTATCTTCAGTTCATTCCACTTTAGGAAACAGAGCTGCCAATTGAAACAGAAGAAGAAAAAAAAAAAAAGCAGCAGACAACACACTGTAGAGTCTTGCACACACACAAGTGCCCAGGCAAGGTGCTTGGCAGAACCGCAGAGTGGGAAGAGAGTACCGGCATCGGGTTTCCTTGGGATCAATTTCATTACCGTGTACCTTTCCCATTGTG
CCTTTTGCCCACAGATGTACCGAGGCTTCACCAAGATGCCCCATGTGCAGTACATCCATACGGAAGCTTCCGAGAGTCTCTGTGGCCTTAAGCTGGAGGTCAACAAGTACCAGTACCTGCTGACAGGTAATGGCCAACTCTAGCTTCTAGGCCAGGGTTTGGCCAAGGTCCACTGTTTCTTGACTTCAGAAGAACACATACGGAGTAGTTGACTCACCAAATGTCCAGTAAATTGTAAGGAGTCTCTAATGTTGAATTCATCCCACTTACCCAGTGCTAGGAGCTTGAGGCTCCTACACTTAGGCTGGACTTTGGAATTAGCTCCACCACTCACCTGGGGGAGGAAATCTCCTAATTTGTAGCTTCTCAACTTTACTGTAAATAAAAAGGGAGTATCTGTTCCTCTCCACCTCACACTCGACCTGTTAGGCCCGTCTTTGAAAGTTATTCATCTTTAGGCAGTCAGTGTAGTAAAGGAGAAAACAAAAACAAAAATCATTATAAAGGGAGTGAAGAGTTGGCCTCTAGTCCTAGCTCCAGTATTTAATGGGCTTGGGACCTTTGGCAAATCACTTTACCTCTCCAAGCCTCATTATCCTCATCTGGAAAATGGGGCTACAGTCCATTTTAAAAGGTGTTGGGTAGGGTGAAATAAAATCATGGGTCTGAAAAGTACCCAGCCACAGTGCCTGGGCTAAGTGGGAACATAGTAGGTGTGAATTCTCTCTGGGCTAGGCTCTGGACAAAACAACCTCTCCTTGTTTTCTTCTTTCCTCCTGTAGGTCGCGTCTATGATGGCAAGATGTACACGGGGCTGTGCAACTTCGTGGAGAGGTGGGACCAGCTCACCCTCTCCCAGCGCAAGGGGCTGAACTATCGGTATCACCTGGGTTGTAACTGCAAGGTAAGCTCTGGGGTCACTGGGGGAAGGAGGGGAGGTGCTGACTTGCAGCCCTAGAAACATCAGCTCCCAATGCACTGGGTGCCAGGCCCTCGGCTGGGAAGGGTATGCATGTGTTAGGCCAGGGCAGAGGGGCAGGTCTGAGCAGATATAGTAAGGATTGTTGCCCCAGGTGGGGCAGTGAGGAAGGCAGGGAAGGAAGAATGCCTTTCTGCTGTAATCGGCTGCCTCCATGATGACCACTTGGAAGCTGCTGGGGCATGAGGGCTCTTGAGTCCCTGGCCCCACCTGGCAGTTCAAGGCTGGAGGTATAGGATCCTGACACTGGCAGGTTCTCCCAAGTGGTTTCAAGTGGGCTCACCCTGGTAGCTGACTCATCGCTAACCCCACCCCAGGTAGGCAAATGGGCCCAGGACTGCAGAGACCAGATGCTACAGAAGGTCTCTCTTTACCAGGCCCATCCCCCTGACCCAAGTATAGGGCCAAGGTGCAGCCTGCCTGCTGTGGGAGGAAGTTGGGCCATTCTCTCACTTCATCTTCAAAACAGTCCTGTGTGGTTTTAATTACTATGATCTCCATTCTGCAGATGAGAGCTCAGAGAACTTAAGTAACTAGCCCTAGGTCCCACAGTTCACTGAATCTGGTTTCCAACCTAGGGCAGCTAGACTCCAAAGTTTATGCTCTAACCTTTCTAATTCCTCGATTCCCTAAAACAACTGAGATCTCCCACCTGAGACGAAAAAGTCCTCTCAGTAGTCTAATTCTGCTACTTACTGGCTGTGTGACCTGCAGCAAGTTACTTAACCTCTCAGAGCCTCCTAAAACTGTGATAAGAATTAAAGAGAATAATATCAAAGCACTTATCAGAATGTCTGTTAGACAGCAGATGCTCAAGCTAGTGCTATTTATATTATGATCACTGAGGGACTGATGTGGCTAGGCTTCCCATGCAGTGGCCCCAGGGTCTGAATCCAGGCTCGGTAGCCTCAGGCCTGGGCATACCATGGCAGAGTCCATCAACTGCTGCCTGTTATCTAATTGCAGATCAAGTCCTGCTACTACCTGCCTTGCTTTGTGACTTCCAAGAACGAGTGTCTCTGGACCGACATGCTCTCCAATTTCGGTTACCCTGGCTACCAGTCCAAACGCTACGCCTGCATCCGGCAGAAGGGCGGCTACTGCAGCTGGTACCGAGGATGGGCCCCCCCGGATAAAAGCATCATCAATGCCACAGACCCCTGAGCGCCAGACCCTGCCCCACCTCACTTCCCTCCCTTCCCGCTGAGCTTCCCTTGGACACTAACTCTTCCCAGATGATGACAATGAAATTAGTGCCTGTTTTCTTGCAAATTTAGCACTTGGAACATTTAAAGAAAGGTCTATGCTGTCATATGGGGTTTATTGGGAACTATCCTCCTGGCCCCACCCTGCCCCTTCTTTTTGGTTTTGACATCATTCATTTCCACCTGGGAATTTCTGGTGCCATGCCAGAAAGAATGAGGAACCTGTATTCCTCTTCTTCGTGATAATATAATCTCTATTTTTTTAGGAAAACAAAAATGAAAAACTACTCCATTTGAGGATTGTAATTCCCACCCCTCTTGCTTCTTCCCCACCTCACCATCTCCCAGACCCTCTTCCCTTTGCCCTTCTCCTCCAATACATAAAGGACACAGACAAGGAACTTGCTGAAAGGCCAACCATTTCAGGATCAGTCAAAGGCAGCAAGCAGATAGACTCAAGGTGTGTGAAAGATGTTATACACCAGGAGCTGCCACTGCATGTCCCAACCAGACTGTGTCTGTCTGTGTCTGCATGTAAGAGTGAGGGAGGGAAGGAAGGAACTACAAGAGAGTCGGAGATGATGCAGCACACACACAATTCCCCAGCCCAGTGATGCTTGTGTTGACCAGATGTTCCTGAGTCTGGAGCAAGCACCCAGGCCAGAATAACAGAGCTTTCTTAGTTGGTGAAGACTTAAACATCTGCCTGAGGTCAGGAGGCAATTTGCCTGCCTTGTACAAAAGCTCAGGTGAAAGACTGAGATGAATGTCTTTCCTCTCCCTGCCTCCCACCAGACTTCCTCCTGGAAAACGCTTTGGTAGATTTGGCCAGGAGCTTTCTTTTATGTAAATTGGATAAATACACACACCATACACTATCCACAGATATAGCCAAGTAGATTTGGGTAGAGGATACTATTTCCAGAATAGTGTTTAGCTCACCTAGGGGGATATGTTTGTATACACATTTGCATATACCCACATGGGGACATAAGCTAATTTTTTTACAGGACACAGAATTCTGTTCAATGCTGTTAAATATGCCAATAGTTTAATCTCTTCTATTTTGTTGTCGTTGCTTGTTTGAAGAAAATCATGACATTCCAAGTTGACATTTTTTTTTCATTTTAATTAAAATTTGAAATTCTGAACACCGTCAGCACCCTCTCTTCCCTATCATGGGTCATCTGACCCCTGTCCGTCTCCTTGTCCCTGCTTCATGTTTGGGGGCCTTTCTTTAACTGCCTTCCTGGCTTAGCTCAGATGGCAGATGAGAGTGTAGTCAAGGGCCTGGGCACAGGAGGGAGAGCTGCAGAGTGTCCTGCCTGCCTTGGCTGGAGGGACACCTCTCCTGGGTGTGGAGACAGCTTGGTTCCCTTTCCCTAGCTCCCTGGTGGGTGAATGCCACCTCCTGAGATCCTCACCTCTTGGAATTAAAATTGTTGGTCACTGGGGAAAGCCTGAGTTTGCAACCAGTTGTAGGGTTTCTGTTGTGTTTTTTTTTTTTTTTTTGAAATAAAACTATAATATAAATTCTCCTATTAAATAAAATTATTTTAAGTTTTAGTGTCAAAAGTGAGATGCTGAGAGTAGGTGATAATGTATATTTTACAGAGTGGGGGTTGGCAGGATGGTGACATTGAACATGATTGCTCTCTGTCTCTTTTTTCAGCTTATGGGTATTTATCTTCTATTAGTATTTGTATCTTCAGTTCATTCCACTTTAGGAAACAGAGCTGCCAATTGAAACAGAAGAAGAAAAAAAAAAAAAGCAGCAGACAACACACTGTAGAGTCTTGCACACACACAAGTGCCCAGGCAAGGTGCTTGGCAGAACCGCAGAGTGGGAAGAGAGTACCGGCATCGGGTTTCCTTGGGATCAATTTCATTACCGTGTACCTTTCCCATTGTG
Task1_train_28727
Here’s a variant in SYN3, TIMP3 (synapsin III| TIMP metallopeptidase inhibitor 3) located on Chromosome 22. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Sorsby fundus dystrophy
GGCTTCACCAAGATGCCCCATGTGCAGTACATCCATACGGAAGCTTCCGAGAGTCTCTGTGGCCTTAAGCTGGAGGTCAACAAGTACCAGTACCTGCTGACAGGTAATGGCCAACTCTAGCTTCTAGGCCAGGGTTTGGCCAAGGTCCACTGTTTCTTGACTTCAGAAGAACACATACGGAGTAGTTGACTCACCAAATGTCCAGTAAATTGTAAGGAGTCTCTAATGTTGAATTCATCCCACTTACCCAGTGCTAGGAGCTTGAGGCTCCTACACTTAGGCTGGACTTTGGAATTAGCTCCACCACTCACCTGGGGGAGGAAATCTCCTAATTTGTAGCTTCTCAACTTTACTGTAAATAAAAAGGGAGTATCTGTTCCTCTCCACCTCACACTCGACCTGTTAGGCCCGTCTTTGAAAGTTATTCATCTTTAGGCAGTCAGTGTAGTAAAGGAGAAAACAAAAACAAAAATCATTATAAAGGGAGTGAAGAGTTGGCCTCTAGTCCTAGCTCCAGTATTTAATGGGCTTGGGACCTTTGGCAAATCACTTTACCTCTCCAAGCCTCATTATCCTCATCTGGAAAATGGGGCTACAGTCCATTTTAAAAGGTGTTGGGTAGGGTGAAATAAAATCATGGGTCTGAAAAGTACCCAGCCACAGTGCCTGGGCTAAGTGGGAACATAGTAGGTGTGAATTCTCTCTGGGCTAGGCTCTGGACAAAACAACCTCTCCTTGTTTTCTTCTTTCCTCCTGTAGGTCGCGTCTATGATGGCAAGATGTACACGGGGCTGTGCAACTTCGTGGAGAGGTGGGACCAGCTCACCCTCTCCCAGCGCAAGGGGCTGAACTATCGGTATCACCTGGGTTGTAACTGCAAGGTAAGCTCTGGGGTCACTGGGGGAAGGAGGGGAGGTGCTGACTTGCAGCCCTAGAAACATCAGCTCCCAATGCACTGGGTGCCAGGCCCTCGGCTGGGAAGGGTATGCATGTGTTAGGCCAGGGCAGAGGGGCAGGTCTGAGCAGATATAGTAAGGATTGTTGCCCCAGGTGGGGCAGTGAGGAAGGCAGGGAAGGAAGAATGCCTTTCTGCTGTAATCGGCTGCCTCCATGATGACCACTTGGAAGCTGCTGGGGCATGAGGGCTCTTGAGTCCCTGGCCCCACCTGGCAGTTCAAGGCTGGAGGTATAGGATCCTGACACTGGCAGGTTCTCCCAAGTGGTTTCAAGTGGGCTCACCCTGGTAGCTGACTCATCGCTAACCCCACCCCAGGTAGGCAAATGGGCCCAGGACTGCAGAGACCAGATGCTACAGAAGGTCTCTCTTTACCAGGCCCATCCCCCTGACCCAAGTATAGGGCCAAGGTGCAGCCTGCCTGCTGTGGGAGGAAGTTGGGCCATTCTCTCACTTCATCTTCAAAACAGTCCTGTGTGGTTTTAATTACTATGATCTCCATTCTGCAGATGAGAGCTCAGAGAACTTAAGTAACTAGCCCTAGGTCCCACAGTTCACTGAATCTGGTTTCCAACCTAGGGCAGCTAGACTCCAAAGTTTATGCTCTAACCTTTCTAATTCCTCGATTCCCTAAAACAACTGAGATCTCCCACCTGAGACGAAAAAGTCCTCTCAGTAGTCTAATTCTGCTACTTACTGGCTGTGTGACCTGCAGCAAGTTACTTAACCTCTCAGAGCCTCCTAAAACTGTGATAAGAATTAAAGAGAATAATATCAAAGCACTTATCAGAATGTCTGTTAGACAGCAGATGCTCAAGCTAGTGCTATTTATATTATGATCACTGAGGGACTGATGTGGCTAGGCTTCCCATGCAGTGGCCCCAGGGTCTGAATCCAGGCTCGGTAGCCTCAGGCCTGGGCATACCATGGCAGAGTCCATCAACTGCTGCCTGTTATCTAATTGCAGATCAAGTCCTGCTACTACCTGCCTTGCTTTGTGACTTCCAAGAACGAGTGTCTCTGGACCGACATGCTCTCCAATTTCGGTTACCCTGGCTACCAGTCCAAACACTACGCCTGCATCCGGCAGAAGGGCGGCTACTGCAGCTGGTACCGAGGATGGGCCCCCCCGGATAAAAGCATCATCAATGCCACAGACCCCTGAGCGCCAGACCCTGCCCCACCTCACTTCCCTCCCTTCCCGCTGAGCTTCCCTTGGACACTAACTCTTCCCAGATGATGACAATGAAATTAGTGCCTGTTTTCTTGCAAATTTAGCACTTGGAACATTTAAAGAAAGGTCTATGCTGTCATATGGGGTTTATTGGGAACTATCCTCCTGGCCCCACCCTGCCCCTTCTTTTTGGTTTTGACATCATTCATTTCCACCTGGGAATTTCTGGTGCCATGCCAGAAAGAATGAGGAACCTGTATTCCTCTTCTTCGTGATAATATAATCTCTATTTTTTTAGGAAAACAAAAATGAAAAACTACTCCATTTGAGGATTGTAATTCCCACCCCTCTTGCTTCTTCCCCACCTCACCATCTCCCAGACCCTCTTCCCTTTGCCCTTCTCCTCCAATACATAAAGGACACAGACAAGGAACTTGCTGAAAGGCCAACCATTTCAGGATCAGTCAAAGGCAGCAAGCAGATAGACTCAAGGTGTGTGAAAGATGTTATACACCAGGAGCTGCCACTGCATGTCCCAACCAGACTGTGTCTGTCTGTGTCTGCATGTAAGAGTGAGGGAGGGAAGGAAGGAACTACAAGAGAGTCGGAGATGATGCAGCACACACACAATTCCCCAGCCCAGTGATGCTTGTGTTGACCAGATGTTCCTGAGTCTGGAGCAAGCACCCAGGCCAGAATAACAGAGCTTTCTTAGTTGGTGAAGACTTAAACATCTGCCTGAGGTCAGGAGGCAATTTGCCTGCCTTGTACAAAAGCTCAGGTGAAAGACTGAGATGAATGTCTTTCCTCTCCCTGCCTCCCACCAGACTTCCTCCTGGAAAACGCTTTGGTAGATTTGGCCAGGAGCTTTCTTTTATGTAAATTGGATAAATACACACACCATACACTATCCACAGATATAGCCAAGTAGATTTGGGTAGAGGATACTATTTCCAGAATAGTGTTTAGCTCACCTAGGGGGATATGTTTGTATACACATTTGCATATACCCACATGGGGACATAAGCTAATTTTTTTACAGGACACAGAATTCTGTTCAATGCTGTTAAATATGCCAATAGTTTAATCTCTTCTATTTTGTTGTCGTTGCTTGTTTGAAGAAAATCATGACATTCCAAGTTGACATTTTTTTTTCATTTTAATTAAAATTTGAAATTCTGAACACCGTCAGCACCCTCTCTTCCCTATCATGGGTCATCTGACCCCTGTCCGTCTCCTTGTCCCTGCTTCATGTTTGGGGGCCTTTCTTTAACTGCCTTCCTGGCTTAGCTCAGATGGCAGATGAGAGTGTAGTCAAGGGCCTGGGCACAGGAGGGAGAGCTGCAGAGTGTCCTGCCTGCCTTGGCTGGAGGGACACCTCTCCTGGGTGTGGAGACAGCTTGGTTCCCTTTCCCTAGCTCCCTGGTGGGTGAATGCCACCTCCTGAGATCCTCACCTCTTGGAATTAAAATTGTTGGTCACTGGGGAAAGCCTGAGTTTGCAACCAGTTGTAGGGTTTCTGTTGTGTTTTTTTTTTTTTTTTTGAAATAAAACTATAATATAAATTCTCCTATTAAATAAAATTATTTTAAGTTTTAGTGTCAAAAGTGAGATGCTGAGAGTAGGTGATAATGTATATTTTACAGAGTGGGGGTTGGCAGGATGGTGACATTGAACATGATTGCTCTCTGTCTCTTTTTTCAGCTTATGGGTATTTATCTTCTATTAGTATTTGTATCTTCAGTTCATTCCACTTTAGGAAACAGAGCTGCCAATTGAAACAGAAGAAGAAAAAAAAAAAAAGCAGCAGACAACACACTGTAGAGTCTTGCACACACACAAGTGCCCAGGCAAGGTGCTTGGCAGAACCGCAGAGTGGGAAGAGAGTACCGGCATCGGGTTTCCTTGGGATCAATTTCATTACCGTGTACCTTTCCCATTGTGGTCATGCCATTTGGCAGGGGGAG
GGCTTCACCAAGATGCCCCATGTGCAGTACATCCATACGGAAGCTTCCGAGAGTCTCTGTGGCCTTAAGCTGGAGGTCAACAAGTACCAGTACCTGCTGACAGGTAATGGCCAACTCTAGCTTCTAGGCCAGGGTTTGGCCAAGGTCCACTGTTTCTTGACTTCAGAAGAACACATACGGAGTAGTTGACTCACCAAATGTCCAGTAAATTGTAAGGAGTCTCTAATGTTGAATTCATCCCACTTACCCAGTGCTAGGAGCTTGAGGCTCCTACACTTAGGCTGGACTTTGGAATTAGCTCCACCACTCACCTGGGGGAGGAAATCTCCTAATTTGTAGCTTCTCAACTTTACTGTAAATAAAAAGGGAGTATCTGTTCCTCTCCACCTCACACTCGACCTGTTAGGCCCGTCTTTGAAAGTTATTCATCTTTAGGCAGTCAGTGTAGTAAAGGAGAAAACAAAAACAAAAATCATTATAAAGGGAGTGAAGAGTTGGCCTCTAGTCCTAGCTCCAGTATTTAATGGGCTTGGGACCTTTGGCAAATCACTTTACCTCTCCAAGCCTCATTATCCTCATCTGGAAAATGGGGCTACAGTCCATTTTAAAAGGTGTTGGGTAGGGTGAAATAAAATCATGGGTCTGAAAAGTACCCAGCCACAGTGCCTGGGCTAAGTGGGAACATAGTAGGTGTGAATTCTCTCTGGGCTAGGCTCTGGACAAAACAACCTCTCCTTGTTTTCTTCTTTCCTCCTGTAGGTCGCGTCTATGATGGCAAGATGTACACGGGGCTGTGCAACTTCGTGGAGAGGTGGGACCAGCTCACCCTCTCCCAGCGCAAGGGGCTGAACTATCGGTATCACCTGGGTTGTAACTGCAAGGTAAGCTCTGGGGTCACTGGGGGAAGGAGGGGAGGTGCTGACTTGCAGCCCTAGAAACATCAGCTCCCAATGCACTGGGTGCCAGGCCCTCGGCTGGGAAGGGTATGCATGTGTTAGGCCAGGGCAGAGGGGCAGGTCTGAGCAGATATAGTAAGGATTGTTGCCCCAGGTGGGGCAGTGAGGAAGGCAGGGAAGGAAGAATGCCTTTCTGCTGTAATCGGCTGCCTCCATGATGACCACTTGGAAGCTGCTGGGGCATGAGGGCTCTTGAGTCCCTGGCCCCACCTGGCAGTTCAAGGCTGGAGGTATAGGATCCTGACACTGGCAGGTTCTCCCAAGTGGTTTCAAGTGGGCTCACCCTGGTAGCTGACTCATCGCTAACCCCACCCCAGGTAGGCAAATGGGCCCAGGACTGCAGAGACCAGATGCTACAGAAGGTCTCTCTTTACCAGGCCCATCCCCCTGACCCAAGTATAGGGCCAAGGTGCAGCCTGCCTGCTGTGGGAGGAAGTTGGGCCATTCTCTCACTTCATCTTCAAAACAGTCCTGTGTGGTTTTAATTACTATGATCTCCATTCTGCAGATGAGAGCTCAGAGAACTTAAGTAACTAGCCCTAGGTCCCACAGTTCACTGAATCTGGTTTCCAACCTAGGGCAGCTAGACTCCAAAGTTTATGCTCTAACCTTTCTAATTCCTCGATTCCCTAAAACAACTGAGATCTCCCACCTGAGACGAAAAAGTCCTCTCAGTAGTCTAATTCTGCTACTTACTGGCTGTGTGACCTGCAGCAAGTTACTTAACCTCTCAGAGCCTCCTAAAACTGTGATAAGAATTAAAGAGAATAATATCAAAGCACTTATCAGAATGTCTGTTAGACAGCAGATGCTCAAGCTAGTGCTATTTATATTATGATCACTGAGGGACTGATGTGGCTAGGCTTCCCATGCAGTGGCCCCAGGGTCTGAATCCAGGCTCGGTAGCCTCAGGCCTGGGCATACCATGGCAGAGTCCATCAACTGCTGCCTGTTATCTAATTGCAGATCAAGTCCTGCTACTACCTGCCTTGCTTTGTGACTTCCAAGAACGAGTGTCTCTGGACCGACATGCTCTCCAATTTCGGTTACCCTGGCTACCAGTCCAAACACTACGCCTGCATCCGGCAGAAGTGCGGCTACTGCAGCTGGTACCGAGGATGGGCCCCCCCGGATAAAAGCATCATCAATGCCACAGACCCCTGAGCGCCAGACCCTGCCCCACCTCACTTCCCTCCCTTCCCGCTGAGCTTCCCTTGGACACTAACTCTTCCCAGATGATGACAATGAAATTAGTGCCTGTTTTCTTGCAAATTTAGCACTTGGAACATTTAAAGAAAGGTCTATGCTGTCATATGGGGTTTATTGGGAACTATCCTCCTGGCCCCACCCTGCCCCTTCTTTTTGGTTTTGACATCATTCATTTCCACCTGGGAATTTCTGGTGCCATGCCAGAAAGAATGAGGAACCTGTATTCCTCTTCTTCGTGATAATATAATCTCTATTTTTTTAGGAAAACAAAAATGAAAAACTACTCCATTTGAGGATTGTAATTCCCACCCCTCTTGCTTCTTCCCCACCTCACCATCTCCCAGACCCTCTTCCCTTTGCCCTTCTCCTCCAATACATAAAGGACACAGACAAGGAACTTGCTGAAAGGCCAACCATTTCAGGATCAGTCAAAGGCAGCAAGCAGATAGACTCAAGGTGTGTGAAAGATGTTATACACCAGGAGCTGCCACTGCATGTCCCAACCAGACTGTGTCTGTCTGTGTCTGCATGTAAGAGTGAGGGAGGGAAGGAAGGAACTACAAGAGAGTCGGAGATGATGCAGCACACACACAATTCCCCAGCCCAGTGATGCTTGTGTTGACCAGATGTTCCTGAGTCTGGAGCAAGCACCCAGGCCAGAATAACAGAGCTTTCTTAGTTGGTGAAGACTTAAACATCTGCCTGAGGTCAGGAGGCAATTTGCCTGCCTTGTACAAAAGCTCAGGTGAAAGACTGAGATGAATGTCTTTCCTCTCCCTGCCTCCCACCAGACTTCCTCCTGGAAAACGCTTTGGTAGATTTGGCCAGGAGCTTTCTTTTATGTAAATTGGATAAATACACACACCATACACTATCCACAGATATAGCCAAGTAGATTTGGGTAGAGGATACTATTTCCAGAATAGTGTTTAGCTCACCTAGGGGGATATGTTTGTATACACATTTGCATATACCCACATGGGGACATAAGCTAATTTTTTTACAGGACACAGAATTCTGTTCAATGCTGTTAAATATGCCAATAGTTTAATCTCTTCTATTTTGTTGTCGTTGCTTGTTTGAAGAAAATCATGACATTCCAAGTTGACATTTTTTTTTCATTTTAATTAAAATTTGAAATTCTGAACACCGTCAGCACCCTCTCTTCCCTATCATGGGTCATCTGACCCCTGTCCGTCTCCTTGTCCCTGCTTCATGTTTGGGGGCCTTTCTTTAACTGCCTTCCTGGCTTAGCTCAGATGGCAGATGAGAGTGTAGTCAAGGGCCTGGGCACAGGAGGGAGAGCTGCAGAGTGTCCTGCCTGCCTTGGCTGGAGGGACACCTCTCCTGGGTGTGGAGACAGCTTGGTTCCCTTTCCCTAGCTCCCTGGTGGGTGAATGCCACCTCCTGAGATCCTCACCTCTTGGAATTAAAATTGTTGGTCACTGGGGAAAGCCTGAGTTTGCAACCAGTTGTAGGGTTTCTGTTGTGTTTTTTTTTTTTTTTTTGAAATAAAACTATAATATAAATTCTCCTATTAAATAAAATTATTTTAAGTTTTAGTGTCAAAAGTGAGATGCTGAGAGTAGGTGATAATGTATATTTTACAGAGTGGGGGTTGGCAGGATGGTGACATTGAACATGATTGCTCTCTGTCTCTTTTTTCAGCTTATGGGTATTTATCTTCTATTAGTATTTGTATCTTCAGTTCATTCCACTTTAGGAAACAGAGCTGCCAATTGAAACAGAAGAAGAAAAAAAAAAAAAGCAGCAGACAACACACTGTAGAGTCTTGCACACACACAAGTGCCCAGGCAAGGTGCTTGGCAGAACCGCAGAGTGGGAAGAGAGTACCGGCATCGGGTTTCCTTGGGATCAATTTCATTACCGTGTACCTTTCCCATTGTGGTCATGCCATTTGGCAGGGGGAG
Task1_train_28728
The gene SYN3, TIMP3 (synapsin III| TIMP metallopeptidase inhibitor 3) is located on Chromosome 22, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; not provided
CCAAGATGCCCCATGTGCAGTACATCCATACGGAAGCTTCCGAGAGTCTCTGTGGCCTTAAGCTGGAGGTCAACAAGTACCAGTACCTGCTGACAGGTAATGGCCAACTCTAGCTTCTAGGCCAGGGTTTGGCCAAGGTCCACTGTTTCTTGACTTCAGAAGAACACATACGGAGTAGTTGACTCACCAAATGTCCAGTAAATTGTAAGGAGTCTCTAATGTTGAATTCATCCCACTTACCCAGTGCTAGGAGCTTGAGGCTCCTACACTTAGGCTGGACTTTGGAATTAGCTCCACCACTCACCTGGGGGAGGAAATCTCCTAATTTGTAGCTTCTCAACTTTACTGTAAATAAAAAGGGAGTATCTGTTCCTCTCCACCTCACACTCGACCTGTTAGGCCCGTCTTTGAAAGTTATTCATCTTTAGGCAGTCAGTGTAGTAAAGGAGAAAACAAAAACAAAAATCATTATAAAGGGAGTGAAGAGTTGGCCTCTAGTCCTAGCTCCAGTATTTAATGGGCTTGGGACCTTTGGCAAATCACTTTACCTCTCCAAGCCTCATTATCCTCATCTGGAAAATGGGGCTACAGTCCATTTTAAAAGGTGTTGGGTAGGGTGAAATAAAATCATGGGTCTGAAAAGTACCCAGCCACAGTGCCTGGGCTAAGTGGGAACATAGTAGGTGTGAATTCTCTCTGGGCTAGGCTCTGGACAAAACAACCTCTCCTTGTTTTCTTCTTTCCTCCTGTAGGTCGCGTCTATGATGGCAAGATGTACACGGGGCTGTGCAACTTCGTGGAGAGGTGGGACCAGCTCACCCTCTCCCAGCGCAAGGGGCTGAACTATCGGTATCACCTGGGTTGTAACTGCAAGGTAAGCTCTGGGGTCACTGGGGGAAGGAGGGGAGGTGCTGACTTGCAGCCCTAGAAACATCAGCTCCCAATGCACTGGGTGCCAGGCCCTCGGCTGGGAAGGGTATGCATGTGTTAGGCCAGGGCAGAGGGGCAGGTCTGAGCAGATATAGTAAGGATTGTTGCCCCAGGTGGGGCAGTGAGGAAGGCAGGGAAGGAAGAATGCCTTTCTGCTGTAATCGGCTGCCTCCATGATGACCACTTGGAAGCTGCTGGGGCATGAGGGCTCTTGAGTCCCTGGCCCCACCTGGCAGTTCAAGGCTGGAGGTATAGGATCCTGACACTGGCAGGTTCTCCCAAGTGGTTTCAAGTGGGCTCACCCTGGTAGCTGACTCATCGCTAACCCCACCCCAGGTAGGCAAATGGGCCCAGGACTGCAGAGACCAGATGCTACAGAAGGTCTCTCTTTACCAGGCCCATCCCCCTGACCCAAGTATAGGGCCAAGGTGCAGCCTGCCTGCTGTGGGAGGAAGTTGGGCCATTCTCTCACTTCATCTTCAAAACAGTCCTGTGTGGTTTTAATTACTATGATCTCCATTCTGCAGATGAGAGCTCAGAGAACTTAAGTAACTAGCCCTAGGTCCCACAGTTCACTGAATCTGGTTTCCAACCTAGGGCAGCTAGACTCCAAAGTTTATGCTCTAACCTTTCTAATTCCTCGATTCCCTAAAACAACTGAGATCTCCCACCTGAGACGAAAAAGTCCTCTCAGTAGTCTAATTCTGCTACTTACTGGCTGTGTGACCTGCAGCAAGTTACTTAACCTCTCAGAGCCTCCTAAAACTGTGATAAGAATTAAAGAGAATAATATCAAAGCACTTATCAGAATGTCTGTTAGACAGCAGATGCTCAAGCTAGTGCTATTTATATTATGATCACTGAGGGACTGATGTGGCTAGGCTTCCCATGCAGTGGCCCCAGGGTCTGAATCCAGGCTCGGTAGCCTCAGGCCTGGGCATACCATGGCAGAGTCCATCAACTGCTGCCTGTTATCTAATTGCAGATCAAGTCCTGCTACTACCTGCCTTGCTTTGTGACTTCCAAGAACGAGTGTCTCTGGACCGACATGCTCTCCAATTTCGGTTACCCTGGCTACCAGTCCAAACACTACGCCTGCATCCGGCAGAAGGGCGGCTACTGCAGCTGGTACCGAGGATGGGCCCCCCCGGATAAAAGCATCATCAATGCCACAGACCCCTGAGCGCCAGACCCTGCCCCACCTCACTTCCCTCCCTTCCCGCTGAGCTTCCCTTGGACACTAACTCTTCCCAGATGATGACAATGAAATTAGTGCCTGTTTTCTTGCAAATTTAGCACTTGGAACATTTAAAGAAAGGTCTATGCTGTCATATGGGGTTTATTGGGAACTATCCTCCTGGCCCCACCCTGCCCCTTCTTTTTGGTTTTGACATCATTCATTTCCACCTGGGAATTTCTGGTGCCATGCCAGAAAGAATGAGGAACCTGTATTCCTCTTCTTCGTGATAATATAATCTCTATTTTTTTAGGAAAACAAAAATGAAAAACTACTCCATTTGAGGATTGTAATTCCCACCCCTCTTGCTTCTTCCCCACCTCACCATCTCCCAGACCCTCTTCCCTTTGCCCTTCTCCTCCAATACATAAAGGACACAGACAAGGAACTTGCTGAAAGGCCAACCATTTCAGGATCAGTCAAAGGCAGCAAGCAGATAGACTCAAGGTGTGTGAAAGATGTTATACACCAGGAGCTGCCACTGCATGTCCCAACCAGACTGTGTCTGTCTGTGTCTGCATGTAAGAGTGAGGGAGGGAAGGAAGGAACTACAAGAGAGTCGGAGATGATGCAGCACACACACAATTCCCCAGCCCAGTGATGCTTGTGTTGACCAGATGTTCCTGAGTCTGGAGCAAGCACCCAGGCCAGAATAACAGAGCTTTCTTAGTTGGTGAAGACTTAAACATCTGCCTGAGGTCAGGAGGCAATTTGCCTGCCTTGTACAAAAGCTCAGGTGAAAGACTGAGATGAATGTCTTTCCTCTCCCTGCCTCCCACCAGACTTCCTCCTGGAAAACGCTTTGGTAGATTTGGCCAGGAGCTTTCTTTTATGTAAATTGGATAAATACACACACCATACACTATCCACAGATATAGCCAAGTAGATTTGGGTAGAGGATACTATTTCCAGAATAGTGTTTAGCTCACCTAGGGGGATATGTTTGTATACACATTTGCATATACCCACATGGGGACATAAGCTAATTTTTTTACAGGACACAGAATTCTGTTCAATGCTGTTAAATATGCCAATAGTTTAATCTCTTCTATTTTGTTGTCGTTGCTTGTTTGAAGAAAATCATGACATTCCAAGTTGACATTTTTTTTTCATTTTAATTAAAATTTGAAATTCTGAACACCGTCAGCACCCTCTCTTCCCTATCATGGGTCATCTGACCCCTGTCCGTCTCCTTGTCCCTGCTTCATGTTTGGGGGCCTTTCTTTAACTGCCTTCCTGGCTTAGCTCAGATGGCAGATGAGAGTGTAGTCAAGGGCCTGGGCACAGGAGGGAGAGCTGCAGAGTGTCCTGCCTGCCTTGGCTGGAGGGACACCTCTCCTGGGTGTGGAGACAGCTTGGTTCCCTTTCCCTAGCTCCCTGGTGGGTGAATGCCACCTCCTGAGATCCTCACCTCTTGGAATTAAAATTGTTGGTCACTGGGGAAAGCCTGAGTTTGCAACCAGTTGTAGGGTTTCTGTTGTGTTTTTTTTTTTTTTTTTGAAATAAAACTATAATATAAATTCTCCTATTAAATAAAATTATTTTAAGTTTTAGTGTCAAAAGTGAGATGCTGAGAGTAGGTGATAATGTATATTTTACAGAGTGGGGGTTGGCAGGATGGTGACATTGAACATGATTGCTCTCTGTCTCTTTTTTCAGCTTATGGGTATTTATCTTCTATTAGTATTTGTATCTTCAGTTCATTCCACTTTAGGAAACAGAGCTGCCAATTGAAACAGAAGAAGAAAAAAAAAAAAAGCAGCAGACAACACACTGTAGAGTCTTGCACACACACAAGTGCCCAGGCAAGGTGCTTGGCAGAACCGCAGAGTGGGAAGAGAGTACCGGCATCGGGTTTCCTTGGGATCAATTTCATTACCGTGTACCTTTCCCATTGTGGTCATGCCATTTGGCAGGGGGAGAATGGGA
CCAAGATGCCCCATGTGCAGTACATCCATACGGAAGCTTCCGAGAGTCTCTGTGGCCTTAAGCTGGAGGTCAACAAGTACCAGTACCTGCTGACAGGTAATGGCCAACTCTAGCTTCTAGGCCAGGGTTTGGCCAAGGTCCACTGTTTCTTGACTTCAGAAGAACACATACGGAGTAGTTGACTCACCAAATGTCCAGTAAATTGTAAGGAGTCTCTAATGTTGAATTCATCCCACTTACCCAGTGCTAGGAGCTTGAGGCTCCTACACTTAGGCTGGACTTTGGAATTAGCTCCACCACTCACCTGGGGGAGGAAATCTCCTAATTTGTAGCTTCTCAACTTTACTGTAAATAAAAAGGGAGTATCTGTTCCTCTCCACCTCACACTCGACCTGTTAGGCCCGTCTTTGAAAGTTATTCATCTTTAGGCAGTCAGTGTAGTAAAGGAGAAAACAAAAACAAAAATCATTATAAAGGGAGTGAAGAGTTGGCCTCTAGTCCTAGCTCCAGTATTTAATGGGCTTGGGACCTTTGGCAAATCACTTTACCTCTCCAAGCCTCATTATCCTCATCTGGAAAATGGGGCTACAGTCCATTTTAAAAGGTGTTGGGTAGGGTGAAATAAAATCATGGGTCTGAAAAGTACCCAGCCACAGTGCCTGGGCTAAGTGGGAACATAGTAGGTGTGAATTCTCTCTGGGCTAGGCTCTGGACAAAACAACCTCTCCTTGTTTTCTTCTTTCCTCCTGTAGGTCGCGTCTATGATGGCAAGATGTACACGGGGCTGTGCAACTTCGTGGAGAGGTGGGACCAGCTCACCCTCTCCCAGCGCAAGGGGCTGAACTATCGGTATCACCTGGGTTGTAACTGCAAGGTAAGCTCTGGGGTCACTGGGGGAAGGAGGGGAGGTGCTGACTTGCAGCCCTAGAAACATCAGCTCCCAATGCACTGGGTGCCAGGCCCTCGGCTGGGAAGGGTATGCATGTGTTAGGCCAGGGCAGAGGGGCAGGTCTGAGCAGATATAGTAAGGATTGTTGCCCCAGGTGGGGCAGTGAGGAAGGCAGGGAAGGAAGAATGCCTTTCTGCTGTAATCGGCTGCCTCCATGATGACCACTTGGAAGCTGCTGGGGCATGAGGGCTCTTGAGTCCCTGGCCCCACCTGGCAGTTCAAGGCTGGAGGTATAGGATCCTGACACTGGCAGGTTCTCCCAAGTGGTTTCAAGTGGGCTCACCCTGGTAGCTGACTCATCGCTAACCCCACCCCAGGTAGGCAAATGGGCCCAGGACTGCAGAGACCAGATGCTACAGAAGGTCTCTCTTTACCAGGCCCATCCCCCTGACCCAAGTATAGGGCCAAGGTGCAGCCTGCCTGCTGTGGGAGGAAGTTGGGCCATTCTCTCACTTCATCTTCAAAACAGTCCTGTGTGGTTTTAATTACTATGATCTCCATTCTGCAGATGAGAGCTCAGAGAACTTAAGTAACTAGCCCTAGGTCCCACAGTTCACTGAATCTGGTTTCCAACCTAGGGCAGCTAGACTCCAAAGTTTATGCTCTAACCTTTCTAATTCCTCGATTCCCTAAAACAACTGAGATCTCCCACCTGAGACGAAAAAGTCCTCTCAGTAGTCTAATTCTGCTACTTACTGGCTGTGTGACCTGCAGCAAGTTACTTAACCTCTCAGAGCCTCCTAAAACTGTGATAAGAATTAAAGAGAATAATATCAAAGCACTTATCAGAATGTCTGTTAGACAGCAGATGCTCAAGCTAGTGCTATTTATATTATGATCACTGAGGGACTGATGTGGCTAGGCTTCCCATGCAGTGGCCCCAGGGTCTGAATCCAGGCTCGGTAGCCTCAGGCCTGGGCATACCATGGCAGAGTCCATCAACTGCTGCCTGTTATCTAATTGCAGATCAAGTCCTGCTACTACCTGCCTTGCTTTGTGACTTCCAAGAACGAGTGTCTCTGGACCGACATGCTCTCCAATTTCGGTTACCCTGGCTACCAGTCCAAACACTACGCCTGCATCCGGCAGAAGGGCGGCTGCTGCAGCTGGTACCGAGGATGGGCCCCCCCGGATAAAAGCATCATCAATGCCACAGACCCCTGAGCGCCAGACCCTGCCCCACCTCACTTCCCTCCCTTCCCGCTGAGCTTCCCTTGGACACTAACTCTTCCCAGATGATGACAATGAAATTAGTGCCTGTTTTCTTGCAAATTTAGCACTTGGAACATTTAAAGAAAGGTCTATGCTGTCATATGGGGTTTATTGGGAACTATCCTCCTGGCCCCACCCTGCCCCTTCTTTTTGGTTTTGACATCATTCATTTCCACCTGGGAATTTCTGGTGCCATGCCAGAAAGAATGAGGAACCTGTATTCCTCTTCTTCGTGATAATATAATCTCTATTTTTTTAGGAAAACAAAAATGAAAAACTACTCCATTTGAGGATTGTAATTCCCACCCCTCTTGCTTCTTCCCCACCTCACCATCTCCCAGACCCTCTTCCCTTTGCCCTTCTCCTCCAATACATAAAGGACACAGACAAGGAACTTGCTGAAAGGCCAACCATTTCAGGATCAGTCAAAGGCAGCAAGCAGATAGACTCAAGGTGTGTGAAAGATGTTATACACCAGGAGCTGCCACTGCATGTCCCAACCAGACTGTGTCTGTCTGTGTCTGCATGTAAGAGTGAGGGAGGGAAGGAAGGAACTACAAGAGAGTCGGAGATGATGCAGCACACACACAATTCCCCAGCCCAGTGATGCTTGTGTTGACCAGATGTTCCTGAGTCTGGAGCAAGCACCCAGGCCAGAATAACAGAGCTTTCTTAGTTGGTGAAGACTTAAACATCTGCCTGAGGTCAGGAGGCAATTTGCCTGCCTTGTACAAAAGCTCAGGTGAAAGACTGAGATGAATGTCTTTCCTCTCCCTGCCTCCCACCAGACTTCCTCCTGGAAAACGCTTTGGTAGATTTGGCCAGGAGCTTTCTTTTATGTAAATTGGATAAATACACACACCATACACTATCCACAGATATAGCCAAGTAGATTTGGGTAGAGGATACTATTTCCAGAATAGTGTTTAGCTCACCTAGGGGGATATGTTTGTATACACATTTGCATATACCCACATGGGGACATAAGCTAATTTTTTTACAGGACACAGAATTCTGTTCAATGCTGTTAAATATGCCAATAGTTTAATCTCTTCTATTTTGTTGTCGTTGCTTGTTTGAAGAAAATCATGACATTCCAAGTTGACATTTTTTTTTCATTTTAATTAAAATTTGAAATTCTGAACACCGTCAGCACCCTCTCTTCCCTATCATGGGTCATCTGACCCCTGTCCGTCTCCTTGTCCCTGCTTCATGTTTGGGGGCCTTTCTTTAACTGCCTTCCTGGCTTAGCTCAGATGGCAGATGAGAGTGTAGTCAAGGGCCTGGGCACAGGAGGGAGAGCTGCAGAGTGTCCTGCCTGCCTTGGCTGGAGGGACACCTCTCCTGGGTGTGGAGACAGCTTGGTTCCCTTTCCCTAGCTCCCTGGTGGGTGAATGCCACCTCCTGAGATCCTCACCTCTTGGAATTAAAATTGTTGGTCACTGGGGAAAGCCTGAGTTTGCAACCAGTTGTAGGGTTTCTGTTGTGTTTTTTTTTTTTTTTTTGAAATAAAACTATAATATAAATTCTCCTATTAAATAAAATTATTTTAAGTTTTAGTGTCAAAAGTGAGATGCTGAGAGTAGGTGATAATGTATATTTTACAGAGTGGGGGTTGGCAGGATGGTGACATTGAACATGATTGCTCTCTGTCTCTTTTTTCAGCTTATGGGTATTTATCTTCTATTAGTATTTGTATCTTCAGTTCATTCCACTTTAGGAAACAGAGCTGCCAATTGAAACAGAAGAAGAAAAAAAAAAAAAGCAGCAGACAACACACTGTAGAGTCTTGCACACACACAAGTGCCCAGGCAAGGTGCTTGGCAGAACCGCAGAGTGGGAAGAGAGTACCGGCATCGGGTTTCCTTGGGATCAATTTCATTACCGTGTACCTTTCCCATTGTGGTCATGCCATTTGGCAGGGGGAGAATGGGA
Task1_train_28729
Gene TIMP3, SYN3 (TIMP metallopeptidase inhibitor 3| synapsin III) on Chromosome 22 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Sorsby fundus dystrophy
TCCGAGAGTCTCTGTGGCCTTAAGCTGGAGGTCAACAAGTACCAGTACCTGCTGACAGGTAATGGCCAACTCTAGCTTCTAGGCCAGGGTTTGGCCAAGGTCCACTGTTTCTTGACTTCAGAAGAACACATACGGAGTAGTTGACTCACCAAATGTCCAGTAAATTGTAAGGAGTCTCTAATGTTGAATTCATCCCACTTACCCAGTGCTAGGAGCTTGAGGCTCCTACACTTAGGCTGGACTTTGGAATTAGCTCCACCACTCACCTGGGGGAGGAAATCTCCTAATTTGTAGCTTCTCAACTTTACTGTAAATAAAAAGGGAGTATCTGTTCCTCTCCACCTCACACTCGACCTGTTAGGCCCGTCTTTGAAAGTTATTCATCTTTAGGCAGTCAGTGTAGTAAAGGAGAAAACAAAAACAAAAATCATTATAAAGGGAGTGAAGAGTTGGCCTCTAGTCCTAGCTCCAGTATTTAATGGGCTTGGGACCTTTGGCAAATCACTTTACCTCTCCAAGCCTCATTATCCTCATCTGGAAAATGGGGCTACAGTCCATTTTAAAAGGTGTTGGGTAGGGTGAAATAAAATCATGGGTCTGAAAAGTACCCAGCCACAGTGCCTGGGCTAAGTGGGAACATAGTAGGTGTGAATTCTCTCTGGGCTAGGCTCTGGACAAAACAACCTCTCCTTGTTTTCTTCTTTCCTCCTGTAGGTCGCGTCTATGATGGCAAGATGTACACGGGGCTGTGCAACTTCGTGGAGAGGTGGGACCAGCTCACCCTCTCCCAGCGCAAGGGGCTGAACTATCGGTATCACCTGGGTTGTAACTGCAAGGTAAGCTCTGGGGTCACTGGGGGAAGGAGGGGAGGTGCTGACTTGCAGCCCTAGAAACATCAGCTCCCAATGCACTGGGTGCCAGGCCCTCGGCTGGGAAGGGTATGCATGTGTTAGGCCAGGGCAGAGGGGCAGGTCTGAGCAGATATAGTAAGGATTGTTGCCCCAGGTGGGGCAGTGAGGAAGGCAGGGAAGGAAGAATGCCTTTCTGCTGTAATCGGCTGCCTCCATGATGACCACTTGGAAGCTGCTGGGGCATGAGGGCTCTTGAGTCCCTGGCCCCACCTGGCAGTTCAAGGCTGGAGGTATAGGATCCTGACACTGGCAGGTTCTCCCAAGTGGTTTCAAGTGGGCTCACCCTGGTAGCTGACTCATCGCTAACCCCACCCCAGGTAGGCAAATGGGCCCAGGACTGCAGAGACCAGATGCTACAGAAGGTCTCTCTTTACCAGGCCCATCCCCCTGACCCAAGTATAGGGCCAAGGTGCAGCCTGCCTGCTGTGGGAGGAAGTTGGGCCATTCTCTCACTTCATCTTCAAAACAGTCCTGTGTGGTTTTAATTACTATGATCTCCATTCTGCAGATGAGAGCTCAGAGAACTTAAGTAACTAGCCCTAGGTCCCACAGTTCACTGAATCTGGTTTCCAACCTAGGGCAGCTAGACTCCAAAGTTTATGCTCTAACCTTTCTAATTCCTCGATTCCCTAAAACAACTGAGATCTCCCACCTGAGACGAAAAAGTCCTCTCAGTAGTCTAATTCTGCTACTTACTGGCTGTGTGACCTGCAGCAAGTTACTTAACCTCTCAGAGCCTCCTAAAACTGTGATAAGAATTAAAGAGAATAATATCAAAGCACTTATCAGAATGTCTGTTAGACAGCAGATGCTCAAGCTAGTGCTATTTATATTATGATCACTGAGGGACTGATGTGGCTAGGCTTCCCATGCAGTGGCCCCAGGGTCTGAATCCAGGCTCGGTAGCCTCAGGCCTGGGCATACCATGGCAGAGTCCATCAACTGCTGCCTGTTATCTAATTGCAGATCAAGTCCTGCTACTACCTGCCTTGCTTTGTGACTTCCAAGAACGAGTGTCTCTGGACCGACATGCTCTCCAATTTCGGTTACCCTGGCTACCAGTCCAAACACTACGCCTGCATCCGGCAGAAGGGCGGCTACTGCAGCTGGTACCGAGGATGGGCCCCCCCGGATAAAAGCATCATCAATGCCACAGACCCCTGAGCGCCAGACCCTGCCCCACCTCACTTCCCTCCCTTCCCGCTGAGCTTCCCTTGGACACTAACTCTTCCCAGATGATGACAATGAAATTAGTGCCTGTTTTCTTGCAAATTTAGCACTTGGAACATTTAAAGAAAGGTCTATGCTGTCATATGGGGTTTATTGGGAACTATCCTCCTGGCCCCACCCTGCCCCTTCTTTTTGGTTTTGACATCATTCATTTCCACCTGGGAATTTCTGGTGCCATGCCAGAAAGAATGAGGAACCTGTATTCCTCTTCTTCGTGATAATATAATCTCTATTTTTTTAGGAAAACAAAAATGAAAAACTACTCCATTTGAGGATTGTAATTCCCACCCCTCTTGCTTCTTCCCCACCTCACCATCTCCCAGACCCTCTTCCCTTTGCCCTTCTCCTCCAATACATAAAGGACACAGACAAGGAACTTGCTGAAAGGCCAACCATTTCAGGATCAGTCAAAGGCAGCAAGCAGATAGACTCAAGGTGTGTGAAAGATGTTATACACCAGGAGCTGCCACTGCATGTCCCAACCAGACTGTGTCTGTCTGTGTCTGCATGTAAGAGTGAGGGAGGGAAGGAAGGAACTACAAGAGAGTCGGAGATGATGCAGCACACACACAATTCCCCAGCCCAGTGATGCTTGTGTTGACCAGATGTTCCTGAGTCTGGAGCAAGCACCCAGGCCAGAATAACAGAGCTTTCTTAGTTGGTGAAGACTTAAACATCTGCCTGAGGTCAGGAGGCAATTTGCCTGCCTTGTACAAAAGCTCAGGTGAAAGACTGAGATGAATGTCTTTCCTCTCCCTGCCTCCCACCAGACTTCCTCCTGGAAAACGCTTTGGTAGATTTGGCCAGGAGCTTTCTTTTATGTAAATTGGATAAATACACACACCATACACTATCCACAGATATAGCCAAGTAGATTTGGGTAGAGGATACTATTTCCAGAATAGTGTTTAGCTCACCTAGGGGGATATGTTTGTATACACATTTGCATATACCCACATGGGGACATAAGCTAATTTTTTTACAGGACACAGAATTCTGTTCAATGCTGTTAAATATGCCAATAGTTTAATCTCTTCTATTTTGTTGTCGTTGCTTGTTTGAAGAAAATCATGACATTCCAAGTTGACATTTTTTTTTCATTTTAATTAAAATTTGAAATTCTGAACACCGTCAGCACCCTCTCTTCCCTATCATGGGTCATCTGACCCCTGTCCGTCTCCTTGTCCCTGCTTCATGTTTGGGGGCCTTTCTTTAACTGCCTTCCTGGCTTAGCTCAGATGGCAGATGAGAGTGTAGTCAAGGGCCTGGGCACAGGAGGGAGAGCTGCAGAGTGTCCTGCCTGCCTTGGCTGGAGGGACACCTCTCCTGGGTGTGGAGACAGCTTGGTTCCCTTTCCCTAGCTCCCTGGTGGGTGAATGCCACCTCCTGAGATCCTCACCTCTTGGAATTAAAATTGTTGGTCACTGGGGAAAGCCTGAGTTTGCAACCAGTTGTAGGGTTTCTGTTGTGTTTTTTTTTTTTTTTTTGAAATAAAACTATAATATAAATTCTCCTATTAAATAAAATTATTTTAAGTTTTAGTGTCAAAAGTGAGATGCTGAGAGTAGGTGATAATGTATATTTTACAGAGTGGGGGTTGGCAGGATGGTGACATTGAACATGATTGCTCTCTGTCTCTTTTTTCAGCTTATGGGTATTTATCTTCTATTAGTATTTGTATCTTCAGTTCATTCCACTTTAGGAAACAGAGCTGCCAATTGAAACAGAAGAAGAAAAAAAAAAAAAGCAGCAGACAACACACTGTAGAGTCTTGCACACACACAAGTGCCCAGGCAAGGTGCTTGGCAGAACCGCAGAGTGGGAAGAGAGTACCGGCATCGGGTTTCCTTGGGATCAATTTCATTACCGTGTACCTTTCCCATTGTGGTCATGCCATTTGGCAGGGGGAGAATGGGAGGCTTGGCCTTCTTTGTGAGGCAGTGTGAGCAGAAGCT
TCCGAGAGTCTCTGTGGCCTTAAGCTGGAGGTCAACAAGTACCAGTACCTGCTGACAGGTAATGGCCAACTCTAGCTTCTAGGCCAGGGTTTGGCCAAGGTCCACTGTTTCTTGACTTCAGAAGAACACATACGGAGTAGTTGACTCACCAAATGTCCAGTAAATTGTAAGGAGTCTCTAATGTTGAATTCATCCCACTTACCCAGTGCTAGGAGCTTGAGGCTCCTACACTTAGGCTGGACTTTGGAATTAGCTCCACCACTCACCTGGGGGAGGAAATCTCCTAATTTGTAGCTTCTCAACTTTACTGTAAATAAAAAGGGAGTATCTGTTCCTCTCCACCTCACACTCGACCTGTTAGGCCCGTCTTTGAAAGTTATTCATCTTTAGGCAGTCAGTGTAGTAAAGGAGAAAACAAAAACAAAAATCATTATAAAGGGAGTGAAGAGTTGGCCTCTAGTCCTAGCTCCAGTATTTAATGGGCTTGGGACCTTTGGCAAATCACTTTACCTCTCCAAGCCTCATTATCCTCATCTGGAAAATGGGGCTACAGTCCATTTTAAAAGGTGTTGGGTAGGGTGAAATAAAATCATGGGTCTGAAAAGTACCCAGCCACAGTGCCTGGGCTAAGTGGGAACATAGTAGGTGTGAATTCTCTCTGGGCTAGGCTCTGGACAAAACAACCTCTCCTTGTTTTCTTCTTTCCTCCTGTAGGTCGCGTCTATGATGGCAAGATGTACACGGGGCTGTGCAACTTCGTGGAGAGGTGGGACCAGCTCACCCTCTCCCAGCGCAAGGGGCTGAACTATCGGTATCACCTGGGTTGTAACTGCAAGGTAAGCTCTGGGGTCACTGGGGGAAGGAGGGGAGGTGCTGACTTGCAGCCCTAGAAACATCAGCTCCCAATGCACTGGGTGCCAGGCCCTCGGCTGGGAAGGGTATGCATGTGTTAGGCCAGGGCAGAGGGGCAGGTCTGAGCAGATATAGTAAGGATTGTTGCCCCAGGTGGGGCAGTGAGGAAGGCAGGGAAGGAAGAATGCCTTTCTGCTGTAATCGGCTGCCTCCATGATGACCACTTGGAAGCTGCTGGGGCATGAGGGCTCTTGAGTCCCTGGCCCCACCTGGCAGTTCAAGGCTGGAGGTATAGGATCCTGACACTGGCAGGTTCTCCCAAGTGGTTTCAAGTGGGCTCACCCTGGTAGCTGACTCATCGCTAACCCCACCCCAGGTAGGCAAATGGGCCCAGGACTGCAGAGACCAGATGCTACAGAAGGTCTCTCTTTACCAGGCCCATCCCCCTGACCCAAGTATAGGGCCAAGGTGCAGCCTGCCTGCTGTGGGAGGAAGTTGGGCCATTCTCTCACTTCATCTTCAAAACAGTCCTGTGTGGTTTTAATTACTATGATCTCCATTCTGCAGATGAGAGCTCAGAGAACTTAAGTAACTAGCCCTAGGTCCCACAGTTCACTGAATCTGGTTTCCAACCTAGGGCAGCTAGACTCCAAAGTTTATGCTCTAACCTTTCTAATTCCTCGATTCCCTAAAACAACTGAGATCTCCCACCTGAGACGAAAAAGTCCTCTCAGTAGTCTAATTCTGCTACTTACTGGCTGTGTGACCTGCAGCAAGTTACTTAACCTCTCAGAGCCTCCTAAAACTGTGATAAGAATTAAAGAGAATAATATCAAAGCACTTATCAGAATGTCTGTTAGACAGCAGATGCTCAAGCTAGTGCTATTTATATTATGATCACTGAGGGACTGATGTGGCTAGGCTTCCCATGCAGTGGCCCCAGGGTCTGAATCCAGGCTCGGTAGCCTCAGGCCTGGGCATACCATGGCAGAGTCCATCAACTGCTGCCTGTTATCTAATTGCAGATCAAGTCCTGCTACTACCTGCCTTGCTTTGTGACTTCCAAGAACGAGTGTCTCTGGACCGACATGCTCTCCAATTTCGGTTACCCTGGCTACCAGTCCAAACACTACGCCTGCATCCGGCAGAAGGGCGGCTACTGCAGCTGGTACCGAGGATGGGCCCCCCCGGATAAATGCATCATCAATGCCACAGACCCCTGAGCGCCAGACCCTGCCCCACCTCACTTCCCTCCCTTCCCGCTGAGCTTCCCTTGGACACTAACTCTTCCCAGATGATGACAATGAAATTAGTGCCTGTTTTCTTGCAAATTTAGCACTTGGAACATTTAAAGAAAGGTCTATGCTGTCATATGGGGTTTATTGGGAACTATCCTCCTGGCCCCACCCTGCCCCTTCTTTTTGGTTTTGACATCATTCATTTCCACCTGGGAATTTCTGGTGCCATGCCAGAAAGAATGAGGAACCTGTATTCCTCTTCTTCGTGATAATATAATCTCTATTTTTTTAGGAAAACAAAAATGAAAAACTACTCCATTTGAGGATTGTAATTCCCACCCCTCTTGCTTCTTCCCCACCTCACCATCTCCCAGACCCTCTTCCCTTTGCCCTTCTCCTCCAATACATAAAGGACACAGACAAGGAACTTGCTGAAAGGCCAACCATTTCAGGATCAGTCAAAGGCAGCAAGCAGATAGACTCAAGGTGTGTGAAAGATGTTATACACCAGGAGCTGCCACTGCATGTCCCAACCAGACTGTGTCTGTCTGTGTCTGCATGTAAGAGTGAGGGAGGGAAGGAAGGAACTACAAGAGAGTCGGAGATGATGCAGCACACACACAATTCCCCAGCCCAGTGATGCTTGTGTTGACCAGATGTTCCTGAGTCTGGAGCAAGCACCCAGGCCAGAATAACAGAGCTTTCTTAGTTGGTGAAGACTTAAACATCTGCCTGAGGTCAGGAGGCAATTTGCCTGCCTTGTACAAAAGCTCAGGTGAAAGACTGAGATGAATGTCTTTCCTCTCCCTGCCTCCCACCAGACTTCCTCCTGGAAAACGCTTTGGTAGATTTGGCCAGGAGCTTTCTTTTATGTAAATTGGATAAATACACACACCATACACTATCCACAGATATAGCCAAGTAGATTTGGGTAGAGGATACTATTTCCAGAATAGTGTTTAGCTCACCTAGGGGGATATGTTTGTATACACATTTGCATATACCCACATGGGGACATAAGCTAATTTTTTTACAGGACACAGAATTCTGTTCAATGCTGTTAAATATGCCAATAGTTTAATCTCTTCTATTTTGTTGTCGTTGCTTGTTTGAAGAAAATCATGACATTCCAAGTTGACATTTTTTTTTCATTTTAATTAAAATTTGAAATTCTGAACACCGTCAGCACCCTCTCTTCCCTATCATGGGTCATCTGACCCCTGTCCGTCTCCTTGTCCCTGCTTCATGTTTGGGGGCCTTTCTTTAACTGCCTTCCTGGCTTAGCTCAGATGGCAGATGAGAGTGTAGTCAAGGGCCTGGGCACAGGAGGGAGAGCTGCAGAGTGTCCTGCCTGCCTTGGCTGGAGGGACACCTCTCCTGGGTGTGGAGACAGCTTGGTTCCCTTTCCCTAGCTCCCTGGTGGGTGAATGCCACCTCCTGAGATCCTCACCTCTTGGAATTAAAATTGTTGGTCACTGGGGAAAGCCTGAGTTTGCAACCAGTTGTAGGGTTTCTGTTGTGTTTTTTTTTTTTTTTTTGAAATAAAACTATAATATAAATTCTCCTATTAAATAAAATTATTTTAAGTTTTAGTGTCAAAAGTGAGATGCTGAGAGTAGGTGATAATGTATATTTTACAGAGTGGGGGTTGGCAGGATGGTGACATTGAACATGATTGCTCTCTGTCTCTTTTTTCAGCTTATGGGTATTTATCTTCTATTAGTATTTGTATCTTCAGTTCATTCCACTTTAGGAAACAGAGCTGCCAATTGAAACAGAAGAAGAAAAAAAAAAAAAGCAGCAGACAACACACTGTAGAGTCTTGCACACACACAAGTGCCCAGGCAAGGTGCTTGGCAGAACCGCAGAGTGGGAAGAGAGTACCGGCATCGGGTTTCCTTGGGATCAATTTCATTACCGTGTACCTTTCCCATTGTGGTCATGCCATTTGGCAGGGGGAGAATGGGAGGCTTGGCCTTCTTTGTGAGGCAGTGTGAGCAGAAGCT
Task1_train_28730
A sequence alteration has been identified in LARGE1 (LARGE xylosyl- and glucuronyltransferase 1) on Chromosome 22. Is it disease-inducing or harmless?
Pathogenic; Retinitis pigmentosa
TGCTTTGTATATAGGCTATATACTTGTATGCTCTGTCTACATATATATTTACATACATACATAAGCCTAGCTAGATCTATGCAAAAATTAGTCCTAATGGTAATTTTCCTAATTCTTGTATAAATTTCCGTGTAACATCCACTTGAGCATGTAACATCGTGAGTGATCTCACAAACCGGATTGCTATAGGGTCCCACATGACTACCAGGCCCAAGGATGGGATGTTCCCTTTACAATTGATTACCAGGATTTACCCTCCTAGCCCACATCTGGTAGAAGACAACATCTGGCTCCAGTGTTGAGAAAGATGCGGAATGGAAAACTTGAAGATGGTTTGAGTTAGAGACAGAGTGGGATCTAACTTCAGGCAAAAGGGGAAAAAAAAGGCTAAAGTTCAAATGATGAGAAAAATAGAATGGGGGAACAGAAAGTGTGAAGTTGCTGTTTATCCACTGCAATTTAGCTCTCTATGTCAAGGTGTGTCTCAGTAGCTTCCTGCAAGAGTGGGAGGGGAATGGGGAAGAAACAGTCTGTACTTTCATTTATTAAATGCAGCTTTCGCTGGTCACATTGCAACTCAATACAAACAGCCCAGCAGAGGGTAGGGCATTAACTCTTGTTCTCATCAATGTAAACACAATATTAATATTGAAGATTAAAGAAAATGGGTAAAAAGTCCAGTGTCTCCTCAATCTGTGTGAAGGTGAAGGTGGTTGCCTACCCTTGGACAGGTCCCAAAGGGAGACTGAGGTTGTCACCTCTTCCCATCCACAGTGAAGCAGGCAAGAACCAGAGGAACCCAATCACTTTCTTCCTGTAGGTCTCCAGATGGATACGTGAATCTTCAGAACTGGGCTTTCATGAATTATGAAAGTTCTTCGAAAGGCCTGAGAGGTTCGTACCTTGTGTGTGCACTGAAGTAGTTCCTTCAAAGCCCTTTCCCATGAATCAGTCACTGCCAATAGAAAATGTGACCGGTGTAAAACAGCCAGCCCTCGTAATTCCGCAGTCCCCATCGCTATAGCCCCTGGATTCTGGAGAGTAGGGAGTTCAAAGTCACGGGAGCCTCGGTGATCATCCTGAAGGAAGCTGCCCATGTTTAAATATCGGCCGAAGATGCTTGACCTCCTTCCTGGGCCACTGCTGATAGAGGGTGGTTGGTAGAGGCAGCTGATTTTCCTTTAGAGCCTCAAAGGATCAGATTTTCTATTTTGGATTGCCAGCCCCAAAAATAAACAAAACCCCCAAAGAAAAACAAAACAAAACAGGAGTGACTTTGGGGATAAGGAAACCCATCAACCCCACCTCCAGGACCCTCTGGTTACAATGTCCCCATTGGGTTTTTCCAAGTGGTTGGTTTAGATCATCGGTTTGCCCTCCGTTTGAATGCCCAGCTACATTGCAGGGCAAAGGGGAAAGTTTTCACTTAATAAAGACAATTTCACTTCTATTTCCTGGGACGAATAACCCCTAGAACCCTGACTTCCCTTTCTCCCCAGTTATGATGGGAAGCATAATTATTAAAAAGCATCCAGAACATCCTAAAGCCCTGCCCTGATCTTGTGGCTTTGCAGTAAGATGATAACCCTTTTACTCCCTGTCACCCCTTGATTTCCCATTCTTGAAGAGACTCATCTAGGTGGGCTGCATAGCTAACCTCTGGGAATGCAGGGTTGTGGGGCAGAGAGGGACTGGCTGGATCCTTGTCCAAGGTCTCTGTAGTGAGGGCAGCTTGGCTGGGCCAAAGAGATAAATAAAAACAAACCGAAAAAGCATGGCTCAATTTTGAATTTGAAGGCCGGGCCCCAAACAGCGAGTGGCACTTCCCCTACAGCATGTCTCCCCCTAGTGGTGGGCTTCTTGGTGCTAGCTGTTGTTCTCGGCTGTGAGATATTTCAGGGCAGCAAAGCCGTAGCGGCGGGACATGTCCTGCTGAAACTCTTCCTTGAGGGTTTTGAGACAGATGCGGTATTGCTTGTTGGAACGGAACTTGGTAATGTCGAAGCTGGGGGCATGAGGCATGTGGATCATGTAGGCGTTGGGCAGCACAATGAACTCATACTCCTGGAAGAAGACAAGAGCAGCGTGAGAACCCGCAAGAGCCGAGGGTCATGCATGATGAAGGCCCAAGCGAATGATTGAATGGCTAGTGAATGAATGACTTGATAATGGCACCCACAAGCAGATGGCAAAGGACAGCACAACAGCTTTGGAGTGGGGTAATTCAGGGCTGTTTCCATGACCTTGGACCAGGAAACTGGCTTCTCTGAGCCTTCATGTTCTCATCTATAAGGTGAAAGTAATAATATTCTTGAATGATGACCATGACGGAGAAGCCAATACTGTATAAACAGTGCTGAGCCGAGCTCATGGCCTAGAAAAGGTTTCTTGATAAATAGATGTGAGCTCACACCCACATGGACAGTCTAGGATGACACACGCCATGGGATATTCTCTTGCTCGATTAACTGACATCTGTTTATGATTCCTCATAGGACTTGATGCGATCTGACAGTCTCAACAGATGAGTGCAAAAGAGGGTACAAAACAGGAATGAGAGACCAGATGAAATAAAAACAAGTATTTTGCTGGACCTAAGCTCACCAAGAACAAACCTCTCCCTGACACATCTTTATCGCAGGTCACACTGTCACCCAGTATTCTCAACTTGGCAGAATACAGCTTAATACTCAGGCCAAAAATAAAAGGCCTCTGAATAGCCAAAACAGGTGACCCAGATTTAGGTCATATCGCTTAGAGGAGAACTCAGCACACTTTTACTCAGATCTATTTACTCTCATTTTGGACATATTGTCTGACAAGCTTTTGTTATCTAGTTTCCCAGCTCAGAGCAGATAAGAATAAACTCAGGGATAACTGGGATGGGGAAAGGCGGCTGTTTTAGGTAGAACAATACAACAGCAGCAAGAAAAGACAGTTGCTGGTGAGGAATGAGTGAGAAAAACCATCAAAAGAAAATGCAAGATCTCCCAGAGCTGAACTGTCTGGGACATTTAATGGAGGGACAAAGAACCCCACCAACCGCACTAGCCCCATGGGTGTGGGTGTTAATACCTGGCAGGTGTGCACTCATTATTTCCTTAAGGTACTGGAAAAGGTTAAGAGTATGTCTGGGACATGCTATTCGCAAAGAAAAAAAAGAAAATATGCAACGTATTTTCAAGAATTCTGTCAAAACTGTCCAAAACAAACAAAGCCCAGGTCTCATGGCTAGAAAAATTAACTTTCTTTGAACTAGTTCATCTCACAGCACTGCTGGACACATGAACATGACATTCCTTTTAAGCAGAAGCTGAGGCTGACTGAACACTGTTGTCTGTGAGTGGCACTCTGCTCATTCAAAGTATTATAAAAAATATGGATACTGACAGCCCTGCTTTCTGTTGTTAAATATGGACATGATTCTATAACCTATCTACATCAGTGTTCTCAACCCTAACGCCTCTCAATCACCTGGGGCTGTTCTCAAACATATTGGAACTATTGGAAGGAAAGTTCTCCTGGTGATTCTCATGAACGGCCAGCGCTCAGTATCCAACCTTAGCTTTTTCTGAATTGGAGGTGCTCTTGTTGAAAAATATTTGCACTGTGCACCAGGAGGAGAGATCTTGGAGAAGAGCATACAAAAGAAAAGAAAAGAAAAAAAAAAAAAGGCTGGAGGGACCGAGGAATCCTTCTTCTAATTTAACCAGAGCAGTTTTGCTTTTGTTTGTTTAACACAGGGGCTGAAAAATTGAAGCATGTCTGGTCCATTTCATGTTTTTGTACACAAAGTTTTATTGAAACAGCCACACCCATTTGTTTAAAGACTGTAAGACTGAACTACAATAGCAGAGTTAAGTAGTTGAAAAGGAGACCTGTAGGTCCCATGAAGCTCAAAACACTTACTATCTGGTCCTTTACAGAAAATGTGTGCTGATCCTTGGTTTCACCTACTAGAATTCTGTAGAAGATTCATACTTTGAAGTAGGAGCTCAATACGTATCAGTTGGATGAATGAAGGAGTTCGTGATTAAACACAGTCTCAAAGTCGCCACTCTTTTAGTAATGATGGATGCATCTATTAATCTTTTAG
TGCTTTGTATATAGGCTATATACTTGTATGCTCTGTCTACATATATATTTACATACATACATAAGCCTAGCTAGATCTATGCAAAAATTAGTCCTAATGGTAATTTTCCTAATTCTTGTATAAATTTCCGTGTAACATCCACTTGAGCATGTAACATCGTGAGTGATCTCACAAACCGGATTGCTATAGGGTCCCACATGACTACCAGGCCCAAGGATGGGATGTTCCCTTTACAATTGATTACCAGGATTTACCCTCCTAGCCCACATCTGGTAGAAGACAACATCTGGCTCCAGTGTTGAGAAAGATGCGGAATGGAAAACTTGAAGATGGTTTGAGTTAGAGACAGAGTGGGATCTAACTTCAGGCAAAAGGGGAAAAAAAAGGCTAAAGTTCAAATGATGAGAAAAATAGAATGGGGGAACAGAAAGTGTGAAGTTGCTGTTTATCCACTGCAATTTAGCTCTCTATGTCAAGGTGTGTCTCAGTAGCTTCCTGCAAGAGTGGGAGGGGAATGGGGAAGAAACAGTCTGTACTTTCATTTATTAAATGCAGCTTTCGCTGGTCACATTGCAACTCAATACAAACAGCCCAGCAGAGGGTAGGGCATTAACTCTTGTTCTCATCAATGTAAACACAATATTAATATTGAAGATTAAAGAAAATGGGTAAAAAGTCCAGTGTCTCCTCAATCTGTGTGAAGGTGAAGGTGGTTGCCTACCCTTGGACAGGTCCCAAAGGGAGACTGAGGTTGTCACCTCTTCCCATCCACAGTGAAGCAGGCAAGAACCAGAGGAACCCAATCACTTTCTTCCTGTAGGTCTCCAGATGGATACGTGAATCTTCAGAACTGGGCTTTCATGAATTATGAAAGTTCTTCGAAAGGCCTGAGAGGTTCGTACCTTGTGTGTGCACTGAAGTAGTTCCTTCAAAGCCCTTTCCCATGAATCAGTCACTGCCAATAGAAAATGTGACCGGTGTAAAACAGCCAGCCCTCGTAATTCCGCAGTCCCCATCGCTATAGCCCCTGGATTCTGGAGAGTAGGGAGTTCAAAGTCACGGGAGCCTCGGTGATCATCCTGAAGGAAGCTGCCCATGTTTAAATATCGGCCGAAGATGCTTGACCTCCTTCCTGGGCCACTGCTGATAGAGGGTGGTTGGTAGAGGCAGCTGATTTTCCTTTAGAGCCTCAAAGGATCAGATTTTCTATTTTGGATTGCCAGCCCCAAAAATAAACAAAACCCCCAAAGAAAAACAAAACAAAACAGGAGTGACTTTGGGGATAAGGAAACCCATCAACCCCACCTCCAGGACCCTCTGGTTACAATGTCCCCATTGGGTTTTTCCAAGTGGTTGGTTTAGATCATCGGTTTGCCCTCCGTTTGAATGCCCAGCTACATTGCAGGGCAAAGGGGAAAGTTTTCACTTAATAAAGACAATTTCACTTCTATTTCCTGGGACGAATAACCCCTAGAACCCTGACTTCCCTTTCTCCCCAGTTATGATGGGAAGCATAATTATTAAAAAGCATCCAGAACATCCTAAAGCCCTGCCCTGATCTTGTGGCTTTGCAGTAAGATGATAACCCTTTTACTCCCTGTCACCCCTTGATTTCCCATTCTTGAAGAGACTCATCTAGGTGGGCTGCATAGCTAACCTCTGGGAATGCAGGGTTGTGGGGCAGAGAGGGACTGGCTGGATCCTTGTCCAAGGTCTCTGTAGTGAGGGCAGCTTGGCTGGGCCAAAGAGATAAATAAAAACAAACCGAAAAAGCATGGCTCAATTTTGAATTTGAAGGCCGGGCCCCAAACAGCGAGTGGCACTTCCCCTACAGCATGTCTCCCCCTAGTGGTGGGCTTCTTGGTGCTAGCTGTTGTTCTCGGCTGTGAGATATTTCAGGGCAGCAAAGCCGTAGCGGCGGGACATGTCCTGCTGAAACTCTTCCTTGAGGGTTTTGAGACAGATGCGGTATTGCTTGTTGGAACGGAACTTGGTAATGTCGAAGCTGGGGGCATGAGGCATGTGGATCATGTAGGCGTTGGGCAGCAAAATGAACTCATACTCCTGGAAGAAGACAAGAGCAGCGTGAGAACCCGCAAGAGCCGAGGGTCATGCATGATGAAGGCCCAAGCGAATGATTGAATGGCTAGTGAATGAATGACTTGATAATGGCACCCACAAGCAGATGGCAAAGGACAGCACAACAGCTTTGGAGTGGGGTAATTCAGGGCTGTTTCCATGACCTTGGACCAGGAAACTGGCTTCTCTGAGCCTTCATGTTCTCATCTATAAGGTGAAAGTAATAATATTCTTGAATGATGACCATGACGGAGAAGCCAATACTGTATAAACAGTGCTGAGCCGAGCTCATGGCCTAGAAAAGGTTTCTTGATAAATAGATGTGAGCTCACACCCACATGGACAGTCTAGGATGACACACGCCATGGGATATTCTCTTGCTCGATTAACTGACATCTGTTTATGATTCCTCATAGGACTTGATGCGATCTGACAGTCTCAACAGATGAGTGCAAAAGAGGGTACAAAACAGGAATGAGAGACCAGATGAAATAAAAACAAGTATTTTGCTGGACCTAAGCTCACCAAGAACAAACCTCTCCCTGACACATCTTTATCGCAGGTCACACTGTCACCCAGTATTCTCAACTTGGCAGAATACAGCTTAATACTCAGGCCAAAAATAAAAGGCCTCTGAATAGCCAAAACAGGTGACCCAGATTTAGGTCATATCGCTTAGAGGAGAACTCAGCACACTTTTACTCAGATCTATTTACTCTCATTTTGGACATATTGTCTGACAAGCTTTTGTTATCTAGTTTCCCAGCTCAGAGCAGATAAGAATAAACTCAGGGATAACTGGGATGGGGAAAGGCGGCTGTTTTAGGTAGAACAATACAACAGCAGCAAGAAAAGACAGTTGCTGGTGAGGAATGAGTGAGAAAAACCATCAAAAGAAAATGCAAGATCTCCCAGAGCTGAACTGTCTGGGACATTTAATGGAGGGACAAAGAACCCCACCAACCGCACTAGCCCCATGGGTGTGGGTGTTAATACCTGGCAGGTGTGCACTCATTATTTCCTTAAGGTACTGGAAAAGGTTAAGAGTATGTCTGGGACATGCTATTCGCAAAGAAAAAAAAGAAAATATGCAACGTATTTTCAAGAATTCTGTCAAAACTGTCCAAAACAAACAAAGCCCAGGTCTCATGGCTAGAAAAATTAACTTTCTTTGAACTAGTTCATCTCACAGCACTGCTGGACACATGAACATGACATTCCTTTTAAGCAGAAGCTGAGGCTGACTGAACACTGTTGTCTGTGAGTGGCACTCTGCTCATTCAAAGTATTATAAAAAATATGGATACTGACAGCCCTGCTTTCTGTTGTTAAATATGGACATGATTCTATAACCTATCTACATCAGTGTTCTCAACCCTAACGCCTCTCAATCACCTGGGGCTGTTCTCAAACATATTGGAACTATTGGAAGGAAAGTTCTCCTGGTGATTCTCATGAACGGCCAGCGCTCAGTATCCAACCTTAGCTTTTTCTGAATTGGAGGTGCTCTTGTTGAAAAATATTTGCACTGTGCACCAGGAGGAGAGATCTTGGAGAAGAGCATACAAAAGAAAAGAAAAGAAAAAAAAAAAAAGGCTGGAGGGACCGAGGAATCCTTCTTCTAATTTAACCAGAGCAGTTTTGCTTTTGTTTGTTTAACACAGGGGCTGAAAAATTGAAGCATGTCTGGTCCATTTCATGTTTTTGTACACAAAGTTTTATTGAAACAGCCACACCCATTTGTTTAAAGACTGTAAGACTGAACTACAATAGCAGAGTTAAGTAGTTGAAAAGGAGACCTGTAGGTCCCATGAAGCTCAAAACACTTACTATCTGGTCCTTTACAGAAAATGTGTGCTGATCCTTGGTTTCACCTACTAGAATTCTGTAGAAGATTCATACTTTGAAGTAGGAGCTCAATACGTATCAGTTGGATGAATGAAGGAGTTCGTGATTAAACACAGTCTCAAAGTCGCCACTCTTTTAGTAATGATGGATGCATCTATTAATCTTTTAG
Task1_train_28731
Gene LARGE1 (LARGE xylosyl- and glucuronyltransferase 1) on Chromosome 22 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Muscular dystrophy-dystroglycanopathy type B6
ACTGTTTTTAACAGAGTCTGGTAGGGACTCCTCCCGCCCCAGGGGAGGGATTAACACTAGGAAACCCGGAGATGTCCCTGGAAGGACACGGACTCAGAAGCTGGAGAGAGAACACAGGCTGCCTGACCTTGCTCCAGACAGCGCAGGGCACGGAGGGTATGCAGGCTAAACCTACGCTTTGGCTTCCCGACAGAAAGTTTAAAGACTCCTAGAAGCTCTTTTCAGAGAGAAAGAGACAGAGGCAGTAAGAGAAAGATACTAAGAGACAGAGAGACGGAGTCAGAAGGAGGGAGGGAGAGCAAGAGAACGAGAGAGAAAGAAATCAGACCTTGCCTGGTTTGCGACAAACAGAAACCCCAGCGCAGCCCAACAACGTGTAGCAGGGTGACGGGCAGACCTGGGGCTGCAGACGCTGGTTCACACCCTGGCGTGAGCTCTCTGGACTTGGACTGTTATTTTGCTTCTCTGGGCCCCACTCTTCCTTCCTGTAGAATGCAGGTAGCTATACCTGCCTCTGGGGTTCGATGTGTAGAACCAATGGGATGATATATGCAAATCACCTCTCATGGTACCTGGATCTAGGCAGGCACTCACTAGGTATTGGCATAATTCATGCTGACCAATGGCAGTAAATAAAGGATTTTTTTAAAATGTCATTGGACCATGATACTGTGTGACTTTAGTTTTCTCATGTGTGAAATGGGACCTTTGGGCCATATGACTTCCATGGCTCCTATCAATCCGAATTGTGTACTATTCTGTAATAAATGCACTCTTCACACAGCCATCTAAGCCTTCCATTAGCCGAGTGCTTTCTCCAGCTGCTGACACCCCGTCCCATGATGTGGGGGGAGCTGGAAAGGGACACTGGAGATTCACAGAAGCAGTTGTCATGGTGCTTATGCACTTGGCTCTGCAGCCAGACTGGCTGTTTCCACCCCAGTTTCCCTTTCCTAGATGAGTAACCCCGGGCCAACGGCTCCTGGTCTCGGTCCCACAGTTCCCCATTTAGAAAAGGAAGGTGATAATACTACCCACGGCAGGGACTTTGGGGGAGGAAATGAGATCCTACCTCTCAAGCACTCAGAACAGTGCCTGGCGCGCAGCAAACACTTCCATAAGCACTAGGCATCATCATCACTTAGATTTGTTTAAAAGACTGGGCAATAATCTTTCTTGGGTTATATGAAGGTTGTCTGGTCCAAAACCAGAAGAAGGAGGGTATGTTTTCTTCTATTTATTATTATTATTTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGAGCAATCTCGGCTCACTGCAACCTCCGACTCCCTGGTTCAAGAGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACGGGCACATGCCACCAAGCCCAGCTAATTTTTTTGGTATTTTTAGTAGGGGGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCGAGAGCCATCGCGTGCCTGCCTGAGGAGGGTATGTTTTCATAGATGCTACAGAAAAAGCAATAGACTGGCAGACAAAAAGAGATGTTCGCTGGACCAAGCTCTGCCATCAACATTTCCTTCTGCAAACTCAGGTTTCAGTCTGTTCACTGAGAACTCTATTGCTGGGTGGCTGTGGGCAGGTCCCTTCCCCTTTCTGGGTCTCTGCTGCCCCATCTGGAAAAGAAACCTGTTGGACTAGATGATGACCCTAAGGGCCTTTTGGTCCTGGCACTGCATGGCCCTATGTGCCTTCTGGCCTGATGGCCAGGCCCCTGCAGGTCCTTACCTGAGGTACTCATAGAGCCCATACATGGGCAGGAAGTCAATGTCAGACAGGAACATGTAGGGAGTGCTGATGTGCTTCATGGCCACGTTGCGCAGCAGGTTCACGGGGTAGAACTGGCCCTCCTTGTACACGATGTGGTAGCCCACGTTGTGGCGGCTCATAAGCACCTCAGAGCCCTGTGCGTAGCGGAGGAACTGCTGGGCCTCGGCGTCTGACAGGTAGAGGGCCAGGCTGATGGGCCCCTCCCAGTGCTTGCAGATGGCCTCCAGCATCTGGAGCCTGGAAGAGACAGGGAGGGTGAGCCGCGGGACCTGGGCCATCCATGCATCATCCGCCGGGCCTGTTGTGGGGCTCTGCCTCCAGTGACACTTGATCAACCAGCTGTGGATCAAATCCCTGCTTTCAACGTTGACTCACTCAGTTCCTTTACCTATAAAACAGGCATCAAAACACTTACCTTGCTGGTTCTCATCTTTCCCTGCTTCCAACTGAACATGTGATATGAAGTTGTATCCCACTATAAGCCTTGGACTCCTCGTTTCAAAGCCAGGTGGTGAGTATATTAAATGATTTGAAGATCCCCTTCCAGCCCCAAAGTCCTACACTTCTCTCTCCACAAAGGTATAAAAAAGCTCTGCTGATCTCCTAAGGCAGTGACCAGCCAGAGAGGACTTACACAAACTTAGAGGCTGCTAAGTTACAAGGAACGGTAAAATAAACAGTAAACACAAGAGCTACAACAACTATAATTACAGATGTGCTGCAGTGTGCCAGGAGCTTCCCAGAATTCTCTCAATAACCTTGAGCACTAGCTGTCATTCTCCCCATTTTCCTGATGGAGGAACGGACGTGCCGTATGTTCAATCAGCTTGGCCTCTTACACTTAGAGGCCAGACATGTGTAGACAGGTACCCTGATGGGACCTTGGAGTCAGGGAGAAAAAAATAACACTAAAAAAGGGAATAGAAAAATATGTGAATGTTGGAAACAAAAGTCTACCTGGGGTGATGCTGTCTGCATCACTCGTCTTCAGAGCCCCTACTACCCCAGGGCGCCAGGCAACTGTGCAAGGCTACCTCAGAGATGCTGAGCCAGGGAGAGGGGGAAAAATAGAGCCCAGGGAAAAAATTAAAAAAAAAAAAAAAAAAGGTGTGTGTGGAGGGTTTGCAACAGAGAGGGTTCTGCAAAGACGTCTGAAGATAAATCTATAAAGATATTTTCTTTCAAAGGCGTTAGAAGCGTCTGGTACATAAAATCTATGGCTAAGAAACAGCAAAAGCCTACTTGAATTGTTTTTCCTTACCCAGCAAGAGGTACGTAATCAGCAGTCTCCTGGTCAGAATGCCCACTTTATTCGGACGATTACCAGGAAATCGATTCCATGCATTTCCATGCTTCTAAACAAAAGGAAATGGGCACACCTATCTTGTTTCAATGGCCTTTTTGATGACTTCCAGAGTTTTCTCTCAGTAATTCTGTTAAGTGGCACTGCCCAGATTTGCTTCCTCGTTCAATAGGGAGGATTAAGATATTCACCAGTGCAAAATGCTCTCCATTTCTCATCCATTATAATGCTTGCTAACCAAATTGACCAGAAACATTTCTTTTTCTTTTTCTTTTTTTTTTTTTTGAGGCGGAGTCTTGCTCTGTTGCCCAGGATGGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGCCGCCCGCTACCACGCCCGGCTAATTTTCTTCTTTGTATTTTTTAGTACAGACGGGGTTTCACCATCTTAGCCAGCATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGCTTACAGGCGTGAGCCACCGCGCCTGGCCGACCAGAGCCATTTCTTAAAAAGGCATGCATTCTCCATGACGCCTAATTGCACTGAACTTTGTACTAGACTTCTGCTGTGGGGGCCTGCCCTCTCCTGGGCTCTGATCTGGAATTTTGAATTATGCCTCCTGCACCTGTTTTACCTTCTGCAAATGTGGGGGACTCTGCGCTTCATGAGAGGGCCATTTGTACAACTCCTCTGAGAATTGGAGAGCAAAACGCAAGAATAATTTCTAGCATGTAGACATGAGACCTGCTGAAGGAAGTGGGCGGAAGGAGGGAGGTTTGGCTGGGCATGAAGAGAGGACCACTTCTCAGGATTCTCTCACTGGCTTGG
ACTGTTTTTAACAGAGTCTGGTAGGGACTCCTCCCGCCCCAGGGGAGGGATTAACACTAGGAAACCCGGAGATGTCCCTGGAAGGACACGGACTCAGAAGCTGGAGAGAGAACACAGGCTGCCTGACCTTGCTCCAGACAGCGCAGGGCACGGAGGGTATGCAGGCTAAACCTACGCTTTGGCTTCCCGACAGAAAGTTTAAAGACTCCTAGAAGCTCTTTTCAGAGAGAAAGAGACAGAGGCAGTAAGAGAAAGATACTAAGAGACAGAGAGACGGAGTCAGAAGGAGGGAGGGAGAGCAAGAGAACGAGAGAGAAAGAAATCAGACCTTGCCTGGTTTGCGACAAACAGAAACCCCAGCGCAGCCCAACAACGTGTAGCAGGGTGACGGGCAGACCTGGGGCTGCAGACGCTGGTTCACACCCTGGCGTGAGCTCTCTGGACTTGGACTGTTATTTTGCTTCTCTGGGCCCCACTCTTCCTTCCTGTAGAATGCAGGTAGCTATACCTGCCTCTGGGGTTCGATGTGTAGAACCAATGGGATGATATATGCAAATCACCTCTCATGGTACCTGGATCTAGGCAGGCACTCACTAGGTATTGGCATAATTCATGCTGACCAATGGCAGTAAATAAAGGATTTTTTTAAAATGTCATTGGACCATGATACTGTGTGACTTTAGTTTTCTCATGTGTGAAATGGGACCTTTGGGCCATATGACTTCCATGGCTCCTATCAATCCGAATTGTGTACTATTCTGTAATAAATGCACTCTTCACACAGCCATCTAAGCCTTCCATTAGCCGAGTGCTTTCTCCAGCTGCTGACACCCCGTCCCATGATGTGGGGGGAGCTGGAAAGGGACACTGGAGATTCACAGAAGCAGTTGTCATGGTGCTTATGCACTTGGCTCTGCAGCCAGACTGGCTGTTTCCACCCCAGTTTCCCTTTCCTAGATGAGTAACCCCGGGCCAACGGCTCCTGGTCTCGGTCCCACAGTTCCCCATTTAGAAAAGGAAGGTGATAATACTACCCACGGCAGGGACTTTGGGGGAGGAAATGAGATCCTACCTCTCAAGCACTCAGAACAGTGCCTGGCGCGCAGCAAACACTTCCATAAGCACTAGGCATCATCATCACTTAGATTTGTTTAAAAGACTGGGCAATAATCTTTCTTGGGTTATATGAAGGTTGTCTGGTCCAAAACCAGAAGAAGGAGGGTATGTTTTCTTCTATTTATTATTATTATTTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGAGCAATCTCGGCTCACTGCAACCTCCGACTCCCTGGTTCAAGAGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACGGGCACATGCCACCAAGCCCAGCTAATTTTTTTGGTATTTTTAGTAGGGGGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCGAGAGCCATCGCGTGCCTGCCTGAGGAGGGTATGTTTTCATAGATGCTACAGAAAAAGCAATAGACTGGCAGACAAAAAGAGATGTTCGCTGGACCAAGCTCTGCCATCAACATTTCCTTCTGCAAACTCAGGTTTCAGTCTGTTCACTGAGAACTCTATTGCTGGGTGGCTGTGGGCAGGTCCCTTCCCCTTTCTGGGTCTCTGCTGCCCCATCTGGAAAAGAAACCTGTTGGACTAGATGATGACCCTAAGGGCCTTTTGGTCCTGGCACTGCATGGCCCTATGTGCCTTCTGGCCTGATGGCCAGGCCCCTGCAGGTCCTTACCTGAGGTACTCATAGAGCCCATACATGGGCAGGAAGTCAATGTCAGACAGGAACATGTAGGGAGTGCTGATGTGCTTCATGGCCACGTTGCGCAGCAGGTTCACGGGGTAGAACTGGCCCTCCTTGTACACGATGTGGTAGCCCACGTTGTGGCGGCTCATAAGCACCTCAGAGCCCTGTGCGTAGCGGAGGAACTGCTGGGCCTTGGCGTCTGACAGGTAGAGGGCCAGGCTGATGGGCCCCTCCCAGTGCTTGCAGATGGCCTCCAGCATCTGGAGCCTGGAAGAGACAGGGAGGGTGAGCCGCGGGACCTGGGCCATCCATGCATCATCCGCCGGGCCTGTTGTGGGGCTCTGCCTCCAGTGACACTTGATCAACCAGCTGTGGATCAAATCCCTGCTTTCAACGTTGACTCACTCAGTTCCTTTACCTATAAAACAGGCATCAAAACACTTACCTTGCTGGTTCTCATCTTTCCCTGCTTCCAACTGAACATGTGATATGAAGTTGTATCCCACTATAAGCCTTGGACTCCTCGTTTCAAAGCCAGGTGGTGAGTATATTAAATGATTTGAAGATCCCCTTCCAGCCCCAAAGTCCTACACTTCTCTCTCCACAAAGGTATAAAAAAGCTCTGCTGATCTCCTAAGGCAGTGACCAGCCAGAGAGGACTTACACAAACTTAGAGGCTGCTAAGTTACAAGGAACGGTAAAATAAACAGTAAACACAAGAGCTACAACAACTATAATTACAGATGTGCTGCAGTGTGCCAGGAGCTTCCCAGAATTCTCTCAATAACCTTGAGCACTAGCTGTCATTCTCCCCATTTTCCTGATGGAGGAACGGACGTGCCGTATGTTCAATCAGCTTGGCCTCTTACACTTAGAGGCCAGACATGTGTAGACAGGTACCCTGATGGGACCTTGGAGTCAGGGAGAAAAAAATAACACTAAAAAAGGGAATAGAAAAATATGTGAATGTTGGAAACAAAAGTCTACCTGGGGTGATGCTGTCTGCATCACTCGTCTTCAGAGCCCCTACTACCCCAGGGCGCCAGGCAACTGTGCAAGGCTACCTCAGAGATGCTGAGCCAGGGAGAGGGGGAAAAATAGAGCCCAGGGAAAAAATTAAAAAAAAAAAAAAAAAAGGTGTGTGTGGAGGGTTTGCAACAGAGAGGGTTCTGCAAAGACGTCTGAAGATAAATCTATAAAGATATTTTCTTTCAAAGGCGTTAGAAGCGTCTGGTACATAAAATCTATGGCTAAGAAACAGCAAAAGCCTACTTGAATTGTTTTTCCTTACCCAGCAAGAGGTACGTAATCAGCAGTCTCCTGGTCAGAATGCCCACTTTATTCGGACGATTACCAGGAAATCGATTCCATGCATTTCCATGCTTCTAAACAAAAGGAAATGGGCACACCTATCTTGTTTCAATGGCCTTTTTGATGACTTCCAGAGTTTTCTCTCAGTAATTCTGTTAAGTGGCACTGCCCAGATTTGCTTCCTCGTTCAATAGGGAGGATTAAGATATTCACCAGTGCAAAATGCTCTCCATTTCTCATCCATTATAATGCTTGCTAACCAAATTGACCAGAAACATTTCTTTTTCTTTTTCTTTTTTTTTTTTTTGAGGCGGAGTCTTGCTCTGTTGCCCAGGATGGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGCCGCCCGCTACCACGCCCGGCTAATTTTCTTCTTTGTATTTTTTAGTACAGACGGGGTTTCACCATCTTAGCCAGCATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGCTTACAGGCGTGAGCCACCGCGCCTGGCCGACCAGAGCCATTTCTTAAAAAGGCATGCATTCTCCATGACGCCTAATTGCACTGAACTTTGTACTAGACTTCTGCTGTGGGGGCCTGCCCTCTCCTGGGCTCTGATCTGGAATTTTGAATTATGCCTCCTGCACCTGTTTTACCTTCTGCAAATGTGGGGGACTCTGCGCTTCATGAGAGGGCCATTTGTACAACTCCTCTGAGAATTGGAGAGCAAAACGCAAGAATAATTTCTAGCATGTAGACATGAGACCTGCTGAAGGAAGTGGGCGGAAGGAGGGAGGTTTGGCTGGGCATGAAGAGAGGACCACTTCTCAGGATTCTCTCACTGGCTTGG
Task1_train_28732
The gene LARGE1 (LARGE xylosyl- and glucuronyltransferase 1) on Chromosome 22 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
GGGAGGGATTAACACTAGGAAACCCGGAGATGTCCCTGGAAGGACACGGACTCAGAAGCTGGAGAGAGAACACAGGCTGCCTGACCTTGCTCCAGACAGCGCAGGGCACGGAGGGTATGCAGGCTAAACCTACGCTTTGGCTTCCCGACAGAAAGTTTAAAGACTCCTAGAAGCTCTTTTCAGAGAGAAAGAGACAGAGGCAGTAAGAGAAAGATACTAAGAGACAGAGAGACGGAGTCAGAAGGAGGGAGGGAGAGCAAGAGAACGAGAGAGAAAGAAATCAGACCTTGCCTGGTTTGCGACAAACAGAAACCCCAGCGCAGCCCAACAACGTGTAGCAGGGTGACGGGCAGACCTGGGGCTGCAGACGCTGGTTCACACCCTGGCGTGAGCTCTCTGGACTTGGACTGTTATTTTGCTTCTCTGGGCCCCACTCTTCCTTCCTGTAGAATGCAGGTAGCTATACCTGCCTCTGGGGTTCGATGTGTAGAACCAATGGGATGATATATGCAAATCACCTCTCATGGTACCTGGATCTAGGCAGGCACTCACTAGGTATTGGCATAATTCATGCTGACCAATGGCAGTAAATAAAGGATTTTTTTAAAATGTCATTGGACCATGATACTGTGTGACTTTAGTTTTCTCATGTGTGAAATGGGACCTTTGGGCCATATGACTTCCATGGCTCCTATCAATCCGAATTGTGTACTATTCTGTAATAAATGCACTCTTCACACAGCCATCTAAGCCTTCCATTAGCCGAGTGCTTTCTCCAGCTGCTGACACCCCGTCCCATGATGTGGGGGGAGCTGGAAAGGGACACTGGAGATTCACAGAAGCAGTTGTCATGGTGCTTATGCACTTGGCTCTGCAGCCAGACTGGCTGTTTCCACCCCAGTTTCCCTTTCCTAGATGAGTAACCCCGGGCCAACGGCTCCTGGTCTCGGTCCCACAGTTCCCCATTTAGAAAAGGAAGGTGATAATACTACCCACGGCAGGGACTTTGGGGGAGGAAATGAGATCCTACCTCTCAAGCACTCAGAACAGTGCCTGGCGCGCAGCAAACACTTCCATAAGCACTAGGCATCATCATCACTTAGATTTGTTTAAAAGACTGGGCAATAATCTTTCTTGGGTTATATGAAGGTTGTCTGGTCCAAAACCAGAAGAAGGAGGGTATGTTTTCTTCTATTTATTATTATTATTTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGAGCAATCTCGGCTCACTGCAACCTCCGACTCCCTGGTTCAAGAGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACGGGCACATGCCACCAAGCCCAGCTAATTTTTTTGGTATTTTTAGTAGGGGGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCGAGAGCCATCGCGTGCCTGCCTGAGGAGGGTATGTTTTCATAGATGCTACAGAAAAAGCAATAGACTGGCAGACAAAAAGAGATGTTCGCTGGACCAAGCTCTGCCATCAACATTTCCTTCTGCAAACTCAGGTTTCAGTCTGTTCACTGAGAACTCTATTGCTGGGTGGCTGTGGGCAGGTCCCTTCCCCTTTCTGGGTCTCTGCTGCCCCATCTGGAAAAGAAACCTGTTGGACTAGATGATGACCCTAAGGGCCTTTTGGTCCTGGCACTGCATGGCCCTATGTGCCTTCTGGCCTGATGGCCAGGCCCCTGCAGGTCCTTACCTGAGGTACTCATAGAGCCCATACATGGGCAGGAAGTCAATGTCAGACAGGAACATGTAGGGAGTGCTGATGTGCTTCATGGCCACGTTGCGCAGCAGGTTCACGGGGTAGAACTGGCCCTCCTTGTACACGATGTGGTAGCCCACGTTGTGGCGGCTCATAAGCACCTCAGAGCCCTGTGCGTAGCGGAGGAACTGCTGGGCCTCGGCGTCTGACAGGTAGAGGGCCAGGCTGATGGGCCCCTCCCAGTGCTTGCAGATGGCCTCCAGCATCTGGAGCCTGGAAGAGACAGGGAGGGTGAGCCGCGGGACCTGGGCCATCCATGCATCATCCGCCGGGCCTGTTGTGGGGCTCTGCCTCCAGTGACACTTGATCAACCAGCTGTGGATCAAATCCCTGCTTTCAACGTTGACTCACTCAGTTCCTTTACCTATAAAACAGGCATCAAAACACTTACCTTGCTGGTTCTCATCTTTCCCTGCTTCCAACTGAACATGTGATATGAAGTTGTATCCCACTATAAGCCTTGGACTCCTCGTTTCAAAGCCAGGTGGTGAGTATATTAAATGATTTGAAGATCCCCTTCCAGCCCCAAAGTCCTACACTTCTCTCTCCACAAAGGTATAAAAAAGCTCTGCTGATCTCCTAAGGCAGTGACCAGCCAGAGAGGACTTACACAAACTTAGAGGCTGCTAAGTTACAAGGAACGGTAAAATAAACAGTAAACACAAGAGCTACAACAACTATAATTACAGATGTGCTGCAGTGTGCCAGGAGCTTCCCAGAATTCTCTCAATAACCTTGAGCACTAGCTGTCATTCTCCCCATTTTCCTGATGGAGGAACGGACGTGCCGTATGTTCAATCAGCTTGGCCTCTTACACTTAGAGGCCAGACATGTGTAGACAGGTACCCTGATGGGACCTTGGAGTCAGGGAGAAAAAAATAACACTAAAAAAGGGAATAGAAAAATATGTGAATGTTGGAAACAAAAGTCTACCTGGGGTGATGCTGTCTGCATCACTCGTCTTCAGAGCCCCTACTACCCCAGGGCGCCAGGCAACTGTGCAAGGCTACCTCAGAGATGCTGAGCCAGGGAGAGGGGGAAAAATAGAGCCCAGGGAAAAAATTAAAAAAAAAAAAAAAAAAGGTGTGTGTGGAGGGTTTGCAACAGAGAGGGTTCTGCAAAGACGTCTGAAGATAAATCTATAAAGATATTTTCTTTCAAAGGCGTTAGAAGCGTCTGGTACATAAAATCTATGGCTAAGAAACAGCAAAAGCCTACTTGAATTGTTTTTCCTTACCCAGCAAGAGGTACGTAATCAGCAGTCTCCTGGTCAGAATGCCCACTTTATTCGGACGATTACCAGGAAATCGATTCCATGCATTTCCATGCTTCTAAACAAAAGGAAATGGGCACACCTATCTTGTTTCAATGGCCTTTTTGATGACTTCCAGAGTTTTCTCTCAGTAATTCTGTTAAGTGGCACTGCCCAGATTTGCTTCCTCGTTCAATAGGGAGGATTAAGATATTCACCAGTGCAAAATGCTCTCCATTTCTCATCCATTATAATGCTTGCTAACCAAATTGACCAGAAACATTTCTTTTTCTTTTTCTTTTTTTTTTTTTTGAGGCGGAGTCTTGCTCTGTTGCCCAGGATGGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGCCGCCCGCTACCACGCCCGGCTAATTTTCTTCTTTGTATTTTTTAGTACAGACGGGGTTTCACCATCTTAGCCAGCATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGCTTACAGGCGTGAGCCACCGCGCCTGGCCGACCAGAGCCATTTCTTAAAAAGGCATGCATTCTCCATGACGCCTAATTGCACTGAACTTTGTACTAGACTTCTGCTGTGGGGGCCTGCCCTCTCCTGGGCTCTGATCTGGAATTTTGAATTATGCCTCCTGCACCTGTTTTACCTTCTGCAAATGTGGGGGACTCTGCGCTTCATGAGAGGGCCATTTGTACAACTCCTCTGAGAATTGGAGAGCAAAACGCAAGAATAATTTCTAGCATGTAGACATGAGACCTGCTGAAGGAAGTGGGCGGAAGGAGGGAGGTTTGGCTGGGCATGAAGAGAGGACCACTTCTCAGGATTCTCTCACTGGCTTGGTTTTTGCCTCTGTGTCTCAGTTTTCCAAGAAAGGAACCCCTC
GGGAGGGATTAACACTAGGAAACCCGGAGATGTCCCTGGAAGGACACGGACTCAGAAGCTGGAGAGAGAACACAGGCTGCCTGACCTTGCTCCAGACAGCGCAGGGCACGGAGGGTATGCAGGCTAAACCTACGCTTTGGCTTCCCGACAGAAAGTTTAAAGACTCCTAGAAGCTCTTTTCAGAGAGAAAGAGACAGAGGCAGTAAGAGAAAGATACTAAGAGACAGAGAGACGGAGTCAGAAGGAGGGAGGGAGAGCAAGAGAACGAGAGAGAAAGAAATCAGACCTTGCCTGGTTTGCGACAAACAGAAACCCCAGCGCAGCCCAACAACGTGTAGCAGGGTGACGGGCAGACCTGGGGCTGCAGACGCTGGTTCACACCCTGGCGTGAGCTCTCTGGACTTGGACTGTTATTTTGCTTCTCTGGGCCCCACTCTTCCTTCCTGTAGAATGCAGGTAGCTATACCTGCCTCTGGGGTTCGATGTGTAGAACCAATGGGATGATATATGCAAATCACCTCTCATGGTACCTGGATCTAGGCAGGCACTCACTAGGTATTGGCATAATTCATGCTGACCAATGGCAGTAAATAAAGGATTTTTTTAAAATGTCATTGGACCATGATACTGTGTGACTTTAGTTTTCTCATGTGTGAAATGGGACCTTTGGGCCATATGACTTCCATGGCTCCTATCAATCCGAATTGTGTACTATTCTGTAATAAATGCACTCTTCACACAGCCATCTAAGCCTTCCATTAGCCGAGTGCTTTCTCCAGCTGCTGACACCCCGTCCCATGATGTGGGGGGAGCTGGAAAGGGACACTGGAGATTCACAGAAGCAGTTGTCATGGTGCTTATGCACTTGGCTCTGCAGCCAGACTGGCTGTTTCCACCCCAGTTTCCCTTTCCTAGATGAGTAACCCCGGGCCAACGGCTCCTGGTCTCGGTCCCACAGTTCCCCATTTAGAAAAGGAAGGTGATAATACTACCCACGGCAGGGACTTTGGGGGAGGAAATGAGATCCTACCTCTCAAGCACTCAGAACAGTGCCTGGCGCGCAGCAAACACTTCCATAAGCACTAGGCATCATCATCACTTAGATTTGTTTAAAAGACTGGGCAATAATCTTTCTTGGGTTATATGAAGGTTGTCTGGTCCAAAACCAGAAGAAGGAGGGTATGTTTTCTTCTATTTATTATTATTATTTTTTGAGAAGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGAGCAATCTCGGCTCACTGCAACCTCCGACTCCCTGGTTCAAGAGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACGGGCACATGCCACCAAGCCCAGCTAATTTTTTTGGTATTTTTAGTAGGGGGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCGAGAGCCATCGCGTGCCTGCCTGAGGAGGGTATGTTTTCATAGATGCTACAGAAAAAGCAATAGACTGGCAGACAAAAAGAGATGTTCGCTGGACCAAGCTCTGCCATCAACATTTCCTTCTGCAAACTCAGGTTTCAGTCTGTTCACTGAGAACTCTATTGCTGGGTGGCTGTGGGCAGGTCCCTTCCCCTTTCTGGGTCTCTGCTGCCCCATCTGGAAAAGAAACCTGTTGGACTAGATGATGACCCTAAGGGCCTTTTGGTCCTGGCACTGCATGGCCCTATGTGCCTTCTGGCCTGATGGCCAGGCCCCTGCAGGTCCTTACCTGAGGTACTCATAGAGCCCATACATGGGCAGGAAGTCAATGTCAGACAGGAACATGTAGGGAGTGCTGATGTGCTTCATGGCCACGTTGCGCAGCAGGTTCACGGGGTAGAACTGGCCCTCCTTGTACACGATGTGGTAGCCCACGTTGTGGCGGCTCATAAGCACCTCAGAGCCCTGTGCGTAGCGGAGGAACTGCTGGGCCTCGGCGTCTGACAGGTAGAGGGCCAGGCTGATGGGCCCCTCCCGGTGCTTGCAGATGGCCTCCAGCATCTGGAGCCTGGAAGAGACAGGGAGGGTGAGCCGCGGGACCTGGGCCATCCATGCATCATCCGCCGGGCCTGTTGTGGGGCTCTGCCTCCAGTGACACTTGATCAACCAGCTGTGGATCAAATCCCTGCTTTCAACGTTGACTCACTCAGTTCCTTTACCTATAAAACAGGCATCAAAACACTTACCTTGCTGGTTCTCATCTTTCCCTGCTTCCAACTGAACATGTGATATGAAGTTGTATCCCACTATAAGCCTTGGACTCCTCGTTTCAAAGCCAGGTGGTGAGTATATTAAATGATTTGAAGATCCCCTTCCAGCCCCAAAGTCCTACACTTCTCTCTCCACAAAGGTATAAAAAAGCTCTGCTGATCTCCTAAGGCAGTGACCAGCCAGAGAGGACTTACACAAACTTAGAGGCTGCTAAGTTACAAGGAACGGTAAAATAAACAGTAAACACAAGAGCTACAACAACTATAATTACAGATGTGCTGCAGTGTGCCAGGAGCTTCCCAGAATTCTCTCAATAACCTTGAGCACTAGCTGTCATTCTCCCCATTTTCCTGATGGAGGAACGGACGTGCCGTATGTTCAATCAGCTTGGCCTCTTACACTTAGAGGCCAGACATGTGTAGACAGGTACCCTGATGGGACCTTGGAGTCAGGGAGAAAAAAATAACACTAAAAAAGGGAATAGAAAAATATGTGAATGTTGGAAACAAAAGTCTACCTGGGGTGATGCTGTCTGCATCACTCGTCTTCAGAGCCCCTACTACCCCAGGGCGCCAGGCAACTGTGCAAGGCTACCTCAGAGATGCTGAGCCAGGGAGAGGGGGAAAAATAGAGCCCAGGGAAAAAATTAAAAAAAAAAAAAAAAAAGGTGTGTGTGGAGGGTTTGCAACAGAGAGGGTTCTGCAAAGACGTCTGAAGATAAATCTATAAAGATATTTTCTTTCAAAGGCGTTAGAAGCGTCTGGTACATAAAATCTATGGCTAAGAAACAGCAAAAGCCTACTTGAATTGTTTTTCCTTACCCAGCAAGAGGTACGTAATCAGCAGTCTCCTGGTCAGAATGCCCACTTTATTCGGACGATTACCAGGAAATCGATTCCATGCATTTCCATGCTTCTAAACAAAAGGAAATGGGCACACCTATCTTGTTTCAATGGCCTTTTTGATGACTTCCAGAGTTTTCTCTCAGTAATTCTGTTAAGTGGCACTGCCCAGATTTGCTTCCTCGTTCAATAGGGAGGATTAAGATATTCACCAGTGCAAAATGCTCTCCATTTCTCATCCATTATAATGCTTGCTAACCAAATTGACCAGAAACATTTCTTTTTCTTTTTCTTTTTTTTTTTTTTGAGGCGGAGTCTTGCTCTGTTGCCCAGGATGGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGCCGCCCGCTACCACGCCCGGCTAATTTTCTTCTTTGTATTTTTTAGTACAGACGGGGTTTCACCATCTTAGCCAGCATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGCTTACAGGCGTGAGCCACCGCGCCTGGCCGACCAGAGCCATTTCTTAAAAAGGCATGCATTCTCCATGACGCCTAATTGCACTGAACTTTGTACTAGACTTCTGCTGTGGGGGCCTGCCCTCTCCTGGGCTCTGATCTGGAATTTTGAATTATGCCTCCTGCACCTGTTTTACCTTCTGCAAATGTGGGGGACTCTGCGCTTCATGAGAGGGCCATTTGTACAACTCCTCTGAGAATTGGAGAGCAAAACGCAAGAATAATTTCTAGCATGTAGACATGAGACCTGCTGAAGGAAGTGGGCGGAAGGAGGGAGGTTTGGCTGGGCATGAAGAGAGGACCACTTCTCAGGATTCTCTCACTGGCTTGGTTTTTGCCTCTGTGTCTCAGTTTTCCAAGAAAGGAACCCCTC
Task1_train_28733
The gene LARGE1 (LARGE xylosyl- and glucuronyltransferase 1) is located on Chromosome 22, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
CTGAACACAGGCTGGCTCGCACTGTGAGGCATCTCTCTTGCCTGTTATCTCTAGGAACCAAGCAATAATGTTTGGATAGAGACGGGGGAATGTCCCAGGCTGACTGGAAGCTCCAGAGTCCTGCTGGTCTCATAAGGCCCTATCCAGTGAGCTCACATGTGCAGACATGGGGTGTCTTCCCTACCCTCACTGGCATATGAAAAACGAAGTCTCCTTCCCCTCTGGCCTCCTAGGCAGGAGCCCTGTGTTACCCATCCTGAGCCTCCTGGAGAGGAAACTGCATGATGACAAGTAGCCCCACTCATTCAGGGACTGAGACAAATTACAGATCCTCCCTTTCAGCAGTGCTTCCTGGGGCCTGCGGTGGACTCAGTGATGGATGCTCCTTGGATTTCTGCAGCCCATGGTGCCCAGGATACGCACTCCCCGTTTCAAAATCCAACCCTGACTTGTCTAGGGAGGTTTTACCTTTTTTGGGCTCTTCTCCAAGCTGTTGCACCAGGCCATACTTATTAACTAGCTGCTGACAGGTGGCGCCGGGAGGTGAATTATGGGCCTTCGTGGCAGAAGATGGCTGAATAAACTATCCTTACTGGACATGGGCATACAATTGCTAGCTTTGGGGGACATGCTCAAGTCACTGTGACCCGACTTGAAATATGAGGCTGGTGGACGATTTTCCCCTCAGGTTTAAAACAGCTACCTGGGTATTATTTTTTTTCTTAAACTCATTCATTATACTCTATCTCATGTTTGAAAAAGGAAATCAGTTTCTGGCTGCTTGGGAAATACTGAATAATAATACTTTAAAAAATAGTAAAGTAATCATGCAGGGTTTCTTGTTTCCTCCGTATTATGAAACTTTGCAGGCATTCGACGAACCAGGAAATTGCACTTTGAACAAAAACATGCAGAGTGAGCTGGCTCTTTGGATGAAAAGGAAAGGGTGAAATGCAGAAAACTCAGAGAAATCATCTTCGTGCCTGAAGACAGCTACCAGTGCCACAGGAAGATGAAAATTTAAATGAGTGATCCTGGTAGACTCAAAGTCAGACTGGAGCCCTCTGCCTTTCCTAGGACGTCAAAATGAGGAATAGGTTTTTAAAAAATGACTATTTGTTGGCTGGGTGCAGAGACTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCATCTGAGGTCAGGAGTTCAAAACCAGCCTGGCCAACGTGGAGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCTGGTGTGGTGCTGCACGCCTGTAATCCTAGCGACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCCGTGAGCCGAGACTGTACCACTGCATTCCAGCCTGGGTGACAGAGCGAGACTCCACCTCAAAAATAAAATAAAATAATAAAAATGAATATTTGCTAACAGTTTGGTAGAGTTCAAGGAGTTTCTGAGGCTGCCTGCATAGCAAGGTGGTTTTCTTGCAGTTTATTCTTTCTATTTAAGTGCATTTCCCTTGAGTAAAGGGACACTAGGACAGCATCTAAGCAAAAGGCTCAGATTAAAGGTTAGACTCTATTTGCCAGGGAGGCCAGTGAAACCTTGCCTGGGAAATATGCTGTGGCATTCTGGGGTCCCAGAGAGCAGGCCCTGTGCACTCCACCTGGTGATGAAGAGGGCACCGACATCTACTTATGAGTCTGCGTCAGTAGACGCTAAGCTCTATGAGGGCAAGTGCTGCATCCTTCGTCTATCTCTGTCATCCTTTTTCTGAACTTGGCTCCTGGTATACACAGTACTCAGTGAAAGTCTGCCGAATGAACAAATGAATGAACAAAGGGAAGGCACTAAGGAGTTGAGCTGTTGTCTTAGACTGGCAAGAATAAGGCAGCTGTATCAGAGCACACAGAGTCACACAATACGTAGAAAACCATTCAGATCGATTTAATTTTAAGTTTCTTTGAGAAACAGCACCAAGCACACTCAGGAATAGCTGCACCTTCGAACCTGGCCACTCACCTGGTCAGCTAAGGATGTAGAGAGCATGCCCATGAGCTCCCTCTCTGCGGTCAGCCTCCACATCTGCTCCCATTTCATCTTCCGCAGCTTATCCAGAAGTAACAGGATCACCCCTGGGCAACAGCACAGGATAAAAGAGAAAATTAAAAAATAAAAAAGATGGAGAGCTAGGCACACCTACTCACATCACAGCCACAGTCTCTCGGGGATGATTGTCTTATGCAGACAAGAGGCCTATGCACTGCTGCAGATGAGTCTTCCCTCTAAAAATTCTTCCAATGAGGCTCCACAGTATGGGGCACCTGTTTTGGAGACGAATACACCTGGGTTCAAGCCTAGGACCTGCCAGTTACTCGATAGGAGACATGAAACCATCTCTCTGAGACCTCCTTGTTGTATGGAGACTGGTCATACAGGCCTCAAAGGACTGTTGGAAGGAGTAAGTGATGAGGGCAGGGAGAGCCTAGCATTGTATGGAGATGGACAGTGGTGGTGGCCGCACAACAATGTGAATGGACTTCATGCCGCTCAACTGTACGTTTAAACATGGTTAACACGGTAAATTTATGTTATGTATATCTCACCACAATAATGAAAAAAAAGATTCTAGCTCTGCACTGGATACAGAGCACATTCCTTATAGACATTAGGTTCTCTCCTGTGTTTTTCCCCAGAGATATGACCACCTACCTAGGTTGAGCTGATAGGTGGAATTTGTACGATGTATACCATTTATCCGTACACACAAAAGCAGCTCCTCTGTGACTTTATTCTGGGTATGGCTTTGCCAATTTGCTTGATGATTACTGACAAGCCATATGGGCCTGTCTCAGTCTTCCTGATTTCAAGAGGGTCTTTTTGGCCCATCCACGCTGGGTCTTTAAGGTGAGCTCCAGAAGCCTGTGAGCTCATAAGAAACTAATAATAAGAGGTGGTTCCTCTTCCTTGGTATCTTTTCTTGGTTACTTTCTGCGGAAGGGACCTGGGTGAATGGAGGGTTGTTTAGGGAGGGAAACTCCCCTTGTCTATATCCTTTTGTGTTTTTTAAAACGCTAAAACAACAGCCGGGTGTGGTGGTGGTTCATGCCTGTAAACCCAGCACTTTGGGAGGGGAGGTGGGTGGATCACCTGAGGTCAGATTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATGCAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTGATCCCAGTTACTTGGGAGGCTGAGGCAGGAGAATCACTCGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACGGCACTCCAGCCTGGACGACAGCGCAGGACACCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGCTAAAACAACTAAACATATTATTCAGGCAAAAAATAAATACATCAGTTAAAATCTAAAAAAGAAAAATACACTTAGGCTTAGCTGAATGGCTGAGAAGCAACTATCTACCATCAGGTCAGTTAGAGCAAGCAGAAAAAGCCCTGAGCACGGAACACAAAAAGCCGAGAGAATTTCCCTGCAGGCCACTGCAGTCAATTTGGTGGGTGGAACTGTAGCACCCAGAGGCCCCCAAATCAATCCTCTTCAGGATGCTTAGCTCAGCAGAATGGTCAGTGGGGAAGACTCAAGGCAGTTGAAAAATGATCTTAGTTGAAACCTAGCACCTGCATTTCCAAGACTCTAGGAAAGAAACTGATTTCCCCAAATCACATACAAATGTCAACTCTAAGCCTCTTTACTTATTCCAGTGGCACATATTTGGAGAAAAGATATATTCACCATTTAGTGAAAGGTGTTTGGCCAGGTGGAGTTGGAAAAAAAATAGTATCTATATGGCTATGGGAAGATTGGGTTAATACACAGAGATCTGAACTTGTAAGTCTGAAGGACAAATTAGATCTGCTGCATAGGTCCTTTGTGCTTTGTTAGGGTTTTTGCACATCACGTATCATTTCCCCTAATGCTCCCTGAGATCTCTACAAGATAGATTTTGTTATCCTTATTTTATAGGTGAGGAAACTGAGGGGCTAAATCGGA
CTGAACACAGGCTGGCTCGCACTGTGAGGCATCTCTCTTGCCTGTTATCTCTAGGAACCAAGCAATAATGTTTGGATAGAGACGGGGGAATGTCCCAGGCTGACTGGAAGCTCCAGAGTCCTGCTGGTCTCATAAGGCCCTATCCAGTGAGCTCACATGTGCAGACATGGGGTGTCTTCCCTACCCTCACTGGCATATGAAAAACGAAGTCTCCTTCCCCTCTGGCCTCCTAGGCAGGAGCCCTGTGTTACCCATCCTGAGCCTCCTGGAGAGGAAACTGCATGATGACAAGTAGCCCCACTCATTCAGGGACTGAGACAAATTACAGATCCTCCCTTTCAGCAGTGCTTCCTGGGGCCTGCGGTGGACTCAGTGATGGATGCTCCTTGGATTTCTGCAGCCCATGGTGCCCAGGATACGCACTCCCCGTTTCAAAATCCAACCCTGACTTGTCTAGGGAGGTTTTACCTTTTTTGGGCTCTTCTCCAAGCTGTTGCACCAGGCCATACTTATTAACTAGCTGCTGACAGGTGGCGCCGGGAGGTGAATTATGGGCCTTCGTGGCAGAAGATGGCTGAATAAACTATCCTTACTGGACATGGGCATACAATTGCTAGCTTTGGGGGACATGCTCAAGTCACTGTGACCCGACTTGAAATATGAGGCTGGTGGACGATTTTCCCCTCAGGTTTAAAACAGCTACCTGGGTATTATTTTTTTTCTTAAACTCATTCATTATACTCTATCTCATGTTTGAAAAAGGAAATCAGTTTCTGGCTGCTTGGGAAATACTGAATAATAATACTTTAAAAAATAGTAAAGTAATCATGCAGGGTTTCTTGTTTCCTCCGTATTATGAAACTTTGCAGGCATTCGACGAACCAGGAAATTGCACTTTGAACAAAAACATGCAGAGTGAGCTGGCTCTTTGGATGAAAAGGAAAGGGTGAAATGCAGAAAACTCAGAGAAATCATCTTCGTGCCTGAAGACAGCTACCAGTGCCACAGGAAGATGAAAATTTAAATGAGTGATCCTGGTAGACTCAAAGTCAGACTGGAGCCCTCTGCCTTTCCTAGGACGTCAAAATGAGGAATAGGTTTTTAAAAAATGACTATTTGTTGGCTGGGTGCAGAGACTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCATCTGAGGTCAGGAGTTCAAAACCAGCCTGGCCAACGTGGAGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCTGGTGTGGTGCTGCACGCCTGTAATCCTAGCGACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCCGTGAGCCGAGACTGTACCACTGCATTCCAGCCTGGGTGACAGAGCGAGACTCCACCTCAAAAATAAAATAAAATAATAAAAATGAATATTTGCTAACAGTTTGGTAGAGTTCAAGGAGTTTCTGAGGCTGCCTGCATAGCAAGGTGGTTTTCTTGCAGTTTATTCTTTCTATTTAAGTGCATTTCCCTTGAGTAAAGGGACACTAGGACAGCATCTAAGCAAAAGGCTCAGATTAAAGGTTAGACTCTATTTGCCAGGGAGGCCAGTGAAACCTTGCCTGGGAAATATGCTGTGGCATTCTGGGGTCCCAGAGAGCAGGCCCTGTGCACTCCACCTGGTGATGAAGAGGGCACCGACATCTACTTATGAGTCTGCGTCAGTAGACGCTAAGCTCTATGAGGGCAAGTGCTGCATCCTTCGTCTATCTCTGTCATCCTTTTTCTGAACTTGGCTCCTGGTATACACAGTACTCAGTGAAAGTCTGCCGAATGAACAAATGAATGAACAAAGGGAAGGCACTAAGGAGTTGAGCTGTTGTCTTAGACTGGCAAGAATAAGGCAGCTGTATCAGAGCACACAGAGTCACACAATACGTAGAAAACCATTCAGATCGATTTAATTTTAAGTTTCTTTGAGAAACAGCACCAAGCACACTCAGGAATAGCTGCACCTTCGAACCTGGCCACTCACCTGGTCAGCTAAGAATGTAGAGAGCATGCCCATGAGCTCCCTCTCTGCGGTCAGCCTCCACATCTGCTCCCATTTCATCTTCCGCAGCTTATCCAGAAGTAACAGGATCACCCCTGGGCAACAGCACAGGATAAAAGAGAAAATTAAAAAATAAAAAAGATGGAGAGCTAGGCACACCTACTCACATCACAGCCACAGTCTCTCGGGGATGATTGTCTTATGCAGACAAGAGGCCTATGCACTGCTGCAGATGAGTCTTCCCTCTAAAAATTCTTCCAATGAGGCTCCACAGTATGGGGCACCTGTTTTGGAGACGAATACACCTGGGTTCAAGCCTAGGACCTGCCAGTTACTCGATAGGAGACATGAAACCATCTCTCTGAGACCTCCTTGTTGTATGGAGACTGGTCATACAGGCCTCAAAGGACTGTTGGAAGGAGTAAGTGATGAGGGCAGGGAGAGCCTAGCATTGTATGGAGATGGACAGTGGTGGTGGCCGCACAACAATGTGAATGGACTTCATGCCGCTCAACTGTACGTTTAAACATGGTTAACACGGTAAATTTATGTTATGTATATCTCACCACAATAATGAAAAAAAAGATTCTAGCTCTGCACTGGATACAGAGCACATTCCTTATAGACATTAGGTTCTCTCCTGTGTTTTTCCCCAGAGATATGACCACCTACCTAGGTTGAGCTGATAGGTGGAATTTGTACGATGTATACCATTTATCCGTACACACAAAAGCAGCTCCTCTGTGACTTTATTCTGGGTATGGCTTTGCCAATTTGCTTGATGATTACTGACAAGCCATATGGGCCTGTCTCAGTCTTCCTGATTTCAAGAGGGTCTTTTTGGCCCATCCACGCTGGGTCTTTAAGGTGAGCTCCAGAAGCCTGTGAGCTCATAAGAAACTAATAATAAGAGGTGGTTCCTCTTCCTTGGTATCTTTTCTTGGTTACTTTCTGCGGAAGGGACCTGGGTGAATGGAGGGTTGTTTAGGGAGGGAAACTCCCCTTGTCTATATCCTTTTGTGTTTTTTAAAACGCTAAAACAACAGCCGGGTGTGGTGGTGGTTCATGCCTGTAAACCCAGCACTTTGGGAGGGGAGGTGGGTGGATCACCTGAGGTCAGATTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATGCAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTGATCCCAGTTACTTGGGAGGCTGAGGCAGGAGAATCACTCGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACGGCACTCCAGCCTGGACGACAGCGCAGGACACCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGCTAAAACAACTAAACATATTATTCAGGCAAAAAATAAATACATCAGTTAAAATCTAAAAAAGAAAAATACACTTAGGCTTAGCTGAATGGCTGAGAAGCAACTATCTACCATCAGGTCAGTTAGAGCAAGCAGAAAAAGCCCTGAGCACGGAACACAAAAAGCCGAGAGAATTTCCCTGCAGGCCACTGCAGTCAATTTGGTGGGTGGAACTGTAGCACCCAGAGGCCCCCAAATCAATCCTCTTCAGGATGCTTAGCTCAGCAGAATGGTCAGTGGGGAAGACTCAAGGCAGTTGAAAAATGATCTTAGTTGAAACCTAGCACCTGCATTTCCAAGACTCTAGGAAAGAAACTGATTTCCCCAAATCACATACAAATGTCAACTCTAAGCCTCTTTACTTATTCCAGTGGCACATATTTGGAGAAAAGATATATTCACCATTTAGTGAAAGGTGTTTGGCCAGGTGGAGTTGGAAAAAAAATAGTATCTATATGGCTATGGGAAGATTGGGTTAATACACAGAGATCTGAACTTGTAAGTCTGAAGGACAAATTAGATCTGCTGCATAGGTCCTTTGTGCTTTGTTAGGGTTTTTGCACATCACGTATCATTTCCCCTAATGCTCCCTGAGATCTCTACAAGATAGATTTTGTTATCCTTATTTTATAGGTGAGGAAACTGAGGGGCTAAATCGGA
Task1_train_28734
Located on Chromosome 22, this mutation impacts TOM1 (target of myb1 membrane trafficking protein). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Immunodeficiency 85 and autoimmunity
ATGTCTCCCAACAGAACAAGAAAGATGGATCCCAGGGCAGCTCAGATGTCTCAGGAGCAGAAATTCCTGGACCATCTCCCCAGGGTGCTGCCATCAATAAATACATCAGCTCAAACACTTGTCCACAAACACCTGTCCACCTTTTTTTTTTTTTTTTTTTTGAGGCACGATCTTGCTCTGTCACCCAGGCTGGAGTATAGTGGCATGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCAGTCCTCCCACCTCAGCCTGCCAGGTAGCCGGGACTACAGGCATGCACCACCACACCCAGCTAATTTTCTTTTCTTTTTTTTTTTTTCTTTTTGCAGAGACAGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCAAACTCTTGGCCTCAAGCAGTCCTCCCTCCTTGGCCTCCGAAAGCATTGGTATTACAGGCATGAGCCACCACACCCACCTGCCCACCTTGTATCATTCTGTTCAAGAGTCACATCCCCAAGAGAGACTTGGATTGGCTGAGCTTCATTGTGCCTACCAGCTGGGGTATGGGAGAGGGCCCTTTGATGGCAGCCCCACCGGGATGATGTGAAATGGGGGAGGAGCAGTTCCTCTAAAGAGTACTTAGGTGCTATTACAAAAGAAGGAGAAGGGCTGGGCGCAGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCTGAGCCGGGAGGATCACTTGAGGCCAGGAGTTTGCAACCAGCCAGGCCAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAATTAGCCGGAGGTGGTGGTGGGTGCCTGTAATCCCAGCTTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAATGAGCCGAGATCGCACCACTGCACTCCAGCCTAGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAGGAAAGAGAAGGAGAAGGATTGCTGGGTCTGCAGAAATTGTGTGCCCATCACACCTCCTCTGTATCTGTAAAATGAGGCTTGTGGCATAAGTGAGAGTCCATGAAACAGTGTCTGTAAAGCGCTTAGCAGTCCAGGGTGTCTGATAACTGACATGAGTTATTCCAGCCTCCTCCAGCCCCTTGTTCATTTTTTGTGTCTTTCTCCATCAAAAGACACTCACTGATTGATTCTAAATCAGTGGAAAGTGGGGGGTACCCTGCAGGTCACGTCTGCCTAGCTTCTCCTGCTCGTTGGCCCAGTGGAATGAAAGGCCTCTTCCCTGCCATTTTGGGGTATGGGCTGTGAGGTGACTGAGGGGCCCCATCTGGTAGCAGCTGGTACCCTCAGATATCCACAGTCATTAGGCTTAATATCTGACTGTGCTTTCAAGCTCGCAGTCACTTATACCCATGTCCTAATTTGGGCTTCAGCACTTCAGGGAGGCAGGTGCCTACAGATACTAGACAAGCAGACTAAAGTTCAGAAGGAACATAATTTACCCGAGGTCATGTGATAAGTGACAAGGCCACGACTTGAACAGACCCCACACTAAAGTCTTCTCGATCTATCACACCGGCCCCTAAGTAGCTCCATAAAACAAGATTAGAGATACATGTATCTTTCTTACAGCACTGAAGAGAGCACTAACACACACACACACACACACATACACACACACAAATATGTAATTGAAACAAGTTTCATAAGACAGTCCTTACCTTTACTGCGTGCCATGCATTCCTATTTTCTTTGCTGTTCTAACCTATTCCTGTTTATTTGTTTCATGCTACTCATGACTAAGGTTGCCTTATAATTGATCATCCAAATTGGGACACTTTTGCAAGGGAAAGAGGAGCACTGCTAGTTACCCAGGGACAGCAGGCATGAACTGGATCTGTCCAGGGCACACCAGACGTGTCATCACCCTGATCATAACCCACCGTGTTGATGTTGAGACCCACAGTTTGAAAAGCTCTGCCTGGCCGTGTGTGGGGGCCTGTCTCAGTCTGTCTCCATAACTCGTGTCTTTTCTGTCTTGTAGGTTTGAACGGTTCCGAACAGGCCAGACCACCAAGGTAAAAGTCTTCTTTTCTGTGACTAGATCAGGCCCTGTTCATGGGAAGAAGGAGTGCCATTCTCACCTCCCTCCCCTAGTAAACTGGACAGGGTGGTGCTGTCTTATCCAGGCCCATAGAGAAATCCCCTTCTAACTTTTTATGTCCCTGTCCCTTTAAGGTAAATAAGGCTGTGCCACCACCTGATGCCCCAGGGTCTCCCCAACCTCCCAGGGAGTCCAGTTGAGCTGGAGCCAGAGGGGAGGAAGGAAATTCCCTGATGCCCAGTCCTAGCTCCTGGGGCCCTGGTGACAGATCCCTGGGCAAAGCCTGCAAGCCACAGTGCTTGGGGCAGAAAGGAACGAAGCTGCAGACAGCGGGGATGATCAGGGCATCTCCCTTCCCACCAGGCCCCAAGTGAGGCCGAGCCGGCAGCTGACCTGATCGACATGGGCCCTGACCCAGCAGCCACCGGCAACCTCTCATCCCAGCTGGCAGGAATGAGTAAGTGTGGTTTGGAGGGCTCCAGCTGAGGGTACATTATGGTACTGTGGGCACCCCTGCAGATTTTCGGGGTGCCCTTGTTATATACCCACAGCAGAGTGTCAGTCTGGACCCCACCTTGCTGGGGTCCCAGGCTGAATCTTGCTGCAAGGTGGGGCACTCGGGGTCACTGCCCCTGGCAGCCCCACAAGTCCTGAGCCGCCTTGGATCTCAGAAATCCTACCATCCTAGGATTGGCCCTCTACACTGAATTCTCCATGGCTTCAATCATCTGCGTGAGCTTGGGCAAGTTCCTTAAACCTCCTGAGCCTCTCTTTCCTCCTCTTTAACAGGAGTAGGGAGCTCGTGTATGAGAAGCGCTTAGACCATGCCAGGCCCAGGTTGCACTCTGGCTGAGTAGTTGGCCATTGTCACTGTTATCACTGTGATAGGTTTTAATATAATTTACTGTCTGCTTCATGCCAAGCCCTAGGAAATCATTAGCACCCCATTTTGCATCACTAATGCTATACTTTTTGAAAAAATCGACTACCCATCTGATTACTGTCCTCCTGCCCAGCCACTTCCCCAGCAGAATCAATGGATAGCGTTTTGACTGTTCTCTAACGCTCACAGCAGCCCCAAGAGGGGTGAGTAAACTAAAGCTGGGAAGAGGAAGCCGCTTGCCCAAGGCCCCACAGCCAGCAGCAGGTGGCCTGCCTCGCGCATTCCCCCACCCACACGTGCCACTTCCCCAGCACCAAGCCCTGGGTCTGGCAGCAGGTAGCTCAGCAGCAGCTCACACACAAGCTTGTGGATGGGTCTTTCACGTGGCCTTTCTGTCCCTGCAGACCTGGGCTCCAGCAGTGTGAGAGCTGGCCTGCAGTCTCTGGAGGCCTCTGGTCGACTGGAAGATGAGTTTGACATGTTTGCGCTGACACGGGGCAGCTCACTGGCTGACCAACGGAAAGAGTGAGTGGCCTGGCCCTGCCCTGGTCCCCTGCAGTTCGGGTGGCTCTCGGGGTTCTGGAACCCGGTTTTATGGTGGCACACCATGAGGAAGGGCACACGGACCCTGCTTAGTAAGCACGCCCTTAGTATCCCCTAAGTCAGTCCAGCATGGCCTGGGAGCCCTGTGGTCAGTTGACAGACTGCGCTCCCCACAGGCCATGCTGGGTGGGGGAGGGGGAGCCTAATGACCCACTGTATGCCAGAATCTTACATAGTCTGATCAGAGGGGGAAACTGAGGCACAGAGAGGGGCAGGCTCATTTGCCCCAGGTCAAGGAGCTAATATTTGGCAGCACTAGGTTAGGAGCCTAGGGCTGTCTGGTTCCAAAACACAGTGTCTCCACCCCCCGCCCCCCTCCCTGCACTGTGTACCGCATAGTAAGCCCTCCAGGAGCAGGGAAGTTTCCTGATAAATCCTCAGGGACTTTCAAGTCAAGTCTTTTTCTGTTGTTCCATAGCCACCGTTAATTTCCAGAGAAGATTAAGCAGGTTCTGTCAGCCTTGCCCCAGAGCTGGGGCTCTGCCCTTCCCTGTGCACCGTGCATTTTCAGGGGGTACTTTC
ATGTCTCCCAACAGAACAAGAAAGATGGATCCCAGGGCAGCTCAGATGTCTCAGGAGCAGAAATTCCTGGACCATCTCCCCAGGGTGCTGCCATCAATAAATACATCAGCTCAAACACTTGTCCACAAACACCTGTCCACCTTTTTTTTTTTTTTTTTTTTGAGGCACGATCTTGCTCTGTCACCCAGGCTGGAGTATAGTGGCATGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCAGTCCTCCCACCTCAGCCTGCCAGGTAGCCGGGACTACAGGCATGCACCACCACACCCAGCTAATTTTCTTTTCTTTTTTTTTTTTTCTTTTTGCAGAGACAGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCAAACTCTTGGCCTCAAGCAGTCCTCCCTCCTTGGCCTCCGAAAGCATTGGTATTACAGGCATGAGCCACCACACCCACCTGCCCACCTTGTATCATTCTGTTCAAGAGTCACATCCCCAAGAGAGACTTGGATTGGCTGAGCTTCATTGTGCCTACCAGCTGGGGTATGGGAGAGGGCCCTTTGATGGCAGCCCCACCGGGATGATGTGAAATGGGGGAGGAGCAGTTCCTCTAAAGAGTACTTAGGTGCTATTACAAAAGAAGGAGAAGGGCTGGGCGCAGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCTGAGCCGGGAGGATCACTTGAGGCCAGGAGTTTGCAACCAGCCAGGCCAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAATTAGCCGGAGGTGGTGGTGGGTGCCTGTAATCCCAGCTTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAATGAGCCGAGATCGCACCACTGCACTCCAGCCTAGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAGGAAAGAGAAGGAGAAGGATTGCTGGGTCTGCAGAAATTGTGTGCCCATCACACCTCCTCTGTATCTGTAAAATGAGGCTTGTGGCATAAGTGAGAGTCCATGAAACAGTGTCTGTAAAGCGCTTAGCAGTCCAGGGTGTCTGATAACTGACATGAGTTATTCCAGCCTCCTCCAGCCCCTTGTTCATTTTTTGTGTCTTTCTCCATCAAAAGACACTCACTGATTGATTCTAAATCAGTGGAAAGTGGGGGGTACCCTGCAGGTCACGTCTGCCTAGCTTCTCCTGCTCGTTGGCCCAGTGGAATGAAAGGCCTCTTCCCTGCCATTTTGGGGTATGGGCTGTGAGGTGACTGAGGGGCCCCATCTGGTAGCAGCTGGTACCCTCAGATATCCACAGTCATTAGGCTTAATATCTGACTGTGCTTTCAAGCTCGCAGTCACTTATACCCATGTCCTAATTTGGGCTTCAGCACTTCAGGGAGGCAGGTGCCTACAGATACTAGACAAGCAGACTAAAGTTCAGAAGGAACATAATTTACCCGAGGTCATGTGATAAGTGACAAGGCCACGACTTGAACAGACCCCACACTAAAGTCTTCTCGATCTATCACACCGGCCCCTAAGTAGCTCCATAAAACAAGATTAGAGATACATGTATCTTTCTTACAGCACTGAAGAGAGCACTAACACACACACACACACACACATACACACACACAAATATGTAATTGAAACAAGTTTCATAAGACAGTCCTTACCTTTACTGCGTGCCATGCATTCCTATTTTCTTTGCTGTTCTAACCTATTCCTGTTTATTTGTTTCATGCTACTCATGACTAAGGTTGCCTTATAATTGATCATCCAAATTGGGACACTTTTGCAAGGGAAAGAGGAGCACTGCTAGTTACCCAGGGACAGCAGGCATGAACTGGATCTGTCCAGGGCACACCAGACGTGTCATCACCCTGATCATAACCCACCGTGTTGATGTTGAGACCCACAGTTTGAAAAGCTCTGCCTGGCCGTGTGTGGGGGCCTGTCTCAGTCTGTCTCCATAACTCGTGTCTTTTCTGTCTTGTAGGTTTGAACGGTTCCGAACAGACCAGACCACCAAGGTAAAAGTCTTCTTTTCTGTGACTAGATCAGGCCCTGTTCATGGGAAGAAGGAGTGCCATTCTCACCTCCCTCCCCTAGTAAACTGGACAGGGTGGTGCTGTCTTATCCAGGCCCATAGAGAAATCCCCTTCTAACTTTTTATGTCCCTGTCCCTTTAAGGTAAATAAGGCTGTGCCACCACCTGATGCCCCAGGGTCTCCCCAACCTCCCAGGGAGTCCAGTTGAGCTGGAGCCAGAGGGGAGGAAGGAAATTCCCTGATGCCCAGTCCTAGCTCCTGGGGCCCTGGTGACAGATCCCTGGGCAAAGCCTGCAAGCCACAGTGCTTGGGGCAGAAAGGAACGAAGCTGCAGACAGCGGGGATGATCAGGGCATCTCCCTTCCCACCAGGCCCCAAGTGAGGCCGAGCCGGCAGCTGACCTGATCGACATGGGCCCTGACCCAGCAGCCACCGGCAACCTCTCATCCCAGCTGGCAGGAATGAGTAAGTGTGGTTTGGAGGGCTCCAGCTGAGGGTACATTATGGTACTGTGGGCACCCCTGCAGATTTTCGGGGTGCCCTTGTTATATACCCACAGCAGAGTGTCAGTCTGGACCCCACCTTGCTGGGGTCCCAGGCTGAATCTTGCTGCAAGGTGGGGCACTCGGGGTCACTGCCCCTGGCAGCCCCACAAGTCCTGAGCCGCCTTGGATCTCAGAAATCCTACCATCCTAGGATTGGCCCTCTACACTGAATTCTCCATGGCTTCAATCATCTGCGTGAGCTTGGGCAAGTTCCTTAAACCTCCTGAGCCTCTCTTTCCTCCTCTTTAACAGGAGTAGGGAGCTCGTGTATGAGAAGCGCTTAGACCATGCCAGGCCCAGGTTGCACTCTGGCTGAGTAGTTGGCCATTGTCACTGTTATCACTGTGATAGGTTTTAATATAATTTACTGTCTGCTTCATGCCAAGCCCTAGGAAATCATTAGCACCCCATTTTGCATCACTAATGCTATACTTTTTGAAAAAATCGACTACCCATCTGATTACTGTCCTCCTGCCCAGCCACTTCCCCAGCAGAATCAATGGATAGCGTTTTGACTGTTCTCTAACGCTCACAGCAGCCCCAAGAGGGGTGAGTAAACTAAAGCTGGGAAGAGGAAGCCGCTTGCCCAAGGCCCCACAGCCAGCAGCAGGTGGCCTGCCTCGCGCATTCCCCCACCCACACGTGCCACTTCCCCAGCACCAAGCCCTGGGTCTGGCAGCAGGTAGCTCAGCAGCAGCTCACACACAAGCTTGTGGATGGGTCTTTCACGTGGCCTTTCTGTCCCTGCAGACCTGGGCTCCAGCAGTGTGAGAGCTGGCCTGCAGTCTCTGGAGGCCTCTGGTCGACTGGAAGATGAGTTTGACATGTTTGCGCTGACACGGGGCAGCTCACTGGCTGACCAACGGAAAGAGTGAGTGGCCTGGCCCTGCCCTGGTCCCCTGCAGTTCGGGTGGCTCTCGGGGTTCTGGAACCCGGTTTTATGGTGGCACACCATGAGGAAGGGCACACGGACCCTGCTTAGTAAGCACGCCCTTAGTATCCCCTAAGTCAGTCCAGCATGGCCTGGGAGCCCTGTGGTCAGTTGACAGACTGCGCTCCCCACAGGCCATGCTGGGTGGGGGAGGGGGAGCCTAATGACCCACTGTATGCCAGAATCTTACATAGTCTGATCAGAGGGGGAAACTGAGGCACAGAGAGGGGCAGGCTCATTTGCCCCAGGTCAAGGAGCTAATATTTGGCAGCACTAGGTTAGGAGCCTAGGGCTGTCTGGTTCCAAAACACAGTGTCTCCACCCCCCGCCCCCCTCCCTGCACTGTGTACCGCATAGTAAGCCCTCCAGGAGCAGGGAAGTTTCCTGATAAATCCTCAGGGACTTTCAAGTCAAGTCTTTTTCTGTTGTTCCATAGCCACCGTTAATTTCCAGAGAAGATTAAGCAGGTTCTGTCAGCCTTGCCCCAGAGCTGGGGCTCTGCCCTTCCCTGTGCACCGTGCATTTTCAGGGGGTACTTTC
Task1_train_28735
Consider this mutation in HMOX1 (heme oxygenase 1) on Chromosome 22. Is this a benign change or a disease-causing variant?
Pathogenic; Heme oxygenase 1 deficiency
GGCAGAGTTGGGTAAGAACCAGGTCCGTCACACTCAAAAACCCAGGCTCTTTTGTACCAGACTGCCTGGCTTTCTGTCCCCTCAAGGAATAGAGCTGCTTTGAATGTTTGTGGCTCAGAAATAACTCAGAAACTCCAACCTAAATGTCTTAACTTTGTTCTCCTTCAAATTTAAACGGGCGTATTAATGTGTAACGGGAGTTAGTGCCCCAAGCCAAGGTACACTCAAGACCTGTTGCCTCAGCCCAGCATGCAGAGGTGGTGGGGTTCAGAATAGGCCTCCAGGAAGGAGAATTGTGCCCTGTAGTTGGTTACGCAGAGGTCAAAAGCCAGAAGCACATGGCCAATCTCCTTTAAGCACTTTCATTTCAGCTGTTCCCCTCTCCTGAGCCATGGTGGGTCCCTGGCAATGCCCGGTCTTCAATCTAGTTTCATTTCTTACTAGCTGTGCAACCTCCATGTCTCATACCCTCTCTGAGCCTTAGTTTCCTTTTCTGTAAAATGGGAATAGCAATTCCTTTGTTGGATTTTTTTTTTTTTTTTTTCTGAGACAGGGTCTTGCTCACTCTGTTCCCCAAGCTGGAGTACAGTGATATGATCACAGCTCACTGCAACCTTGAAATCCTGGGCTCAAGTGATACCCCTGCCTCCGCCTCTGGAGTAGCTGGGACTATAGGCATGCACCCCCACAGCCATACCTGGCTTTTTTTTTTTTTTTTTTTTTTCTGAGTCAAAGTCTTGCTCTGTCGCCCAGGCTGGAGCGCAATGGCGTGATCTCGGCTCACTGCAACCACTGCCTCCTGGGTTCAAGCAATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGATTATAGGTGCCTGCCACCATGCCTGGCCAATTTTTGTGTTTTTAGTAGAGATAGGGTTTCACCATATTGCCCAGGCTGGTCTCTTGGCCAGGCTGGTCTCGAACTCCTGATCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGGCTAGTTTATTTATTTATTTATTTATTTTTATTTATTTTTTTGAGACAGAATTTCGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCGAGATCTCAGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAATAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTTGATGTCCTGACCTTGTGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCCCAGCCAGCTAGTTTTTTAAAATAATTTTTTGTAGAGGTGGGTTTTGGGCTATGTTGCCCAGGCTGGTCTCAGACTCCTGGCTTTAAGCAATCCTCCAGCCTTAGCCTCCCAAAGTGCAGGGATTACAGGGGTTTGAGCCACCACACTGGGCCAGTTTGTTAGATCTTTATATAAGGATTCAATTAGGCTGCTTGTTTTGCCCAGTGGGGTAAAAGGTTTTTAGGCTGAGAAAGTGCATGATCGTCTTTTCCTCTTGTAAAAACCCCTCTGGCTGCTGTGTGAAGAGGATTGTAGCGAGGGGTGGCAGAAGGAGTCAGAGCCCAGCTGCGAAGTGAGGAGGGCCTTTCCAAAGGCAGTAGTGGACGGGACGGACAGAGGTGGGGGTCTTCTATGTGGCTGGCGGCCTGACCTGCTCACTCTGCTTTCAGCTGGTGATGGCCTCCCTGTACCACATCTATGTGGCCCTGGAGGAGGAGATTGAGCGCAACAAGGAGAGCCCAGTCTTCGCCCCTGTCTACTTCCCAGAAGAGCTGCACCGCAAGGCTGCCCTGGAGCAGGACCTGGCCTTCTGGTACGGGCCCCGCTGGCAGGAGGTCATCCCCTACACACCAGCCATGCAGCGCTATGTGAAGCGGCTCCACGAGGTGGGGCGCACAGAGCCCGAGCTGCTGGTGGCCCACGCCTACACCCGCTACCTGGGTGACCTGTCTGGGGGCCAGGTGCTCAAAAAGATTGCCCAGAAAGCCCTGGACCTGCCCAGCTCTGGCGAGGGCCTGGCCTTCTTCACCTTCCCCAACATTGCCAGTGCCACCAAGTTCAAGCAGCTCTACCGCTCCCGCATGAACTCCCTGGAGATGACTCCCGCAGTCAGGCAGAGGGTGATAGAAGAGGCCAAGACTGCGTTCCTGCTCAACATCCAGGTGAGGGTCGGGCAGCCTGGGGCAGCCTCTGCCTCCCCCCGTTGTTCCTCCAAGGGACCCTTCTCATTGTAGGGGAGGGTGCTATAGGTCATGGTTAACACAGGGAACCAGAGTTCCAGCACTGCCACTTACTAGCTGGGTGATCTTGGGCAAATGCCTTCATCTCTCTGTACCTCAGTTTCCCTATCTGTAAAATAGGGATAATAATGGTACCTATATCTTAGACTTATAAGGCTTGAGTGAATTTACAGCAGTAAAGTCCCCACAGCAGTGTCTGGCACAGAGGAAGCCCTCAAACATTCACTACTGTCATAATGGGACATGAGAATCAGTTGTAGCTCTCTGTGACAACAGTCTGTGGCAATGTATAAGTTGTGTGTGCACTAGTGTATAGCCAGGTTGGCACTCCCAGGGTTACAGGTGGCCTCTGCCTTCCAGGGACTCTCAGCCTAGCCAGAGAGGTTTACCTCTTTCTACAAGTGTCTCAAATCCAGGGGGAAGGTGGGGTTTGCGCAAAGCCTGGAAGGATGAATTCTTGGGCAGAGGTGGAGGGGTGAGGGGCTCCTTCTAACCAGATGTCATAGAGCCTTCTCTCTCTGCCACCCCCTGGAGGTGCCATGGGGCCTGGGGCTCGGGGTCATGCCCTCCTGGCTCCCTACTCCCAGCCGTGGATTGCAGAAGATTCTGGTCCTGGCCCCTGTTACGGAACAAGGCCTTTCCCTTCCACCCTCCCCCTTCAGAAAATCCAGTCCGTCTTGGAGGAAGAAAATCTGTGTCTTTCAGAGAAGTGTAGGCAAAAGAAAAGGGCCAGGTGCAGTGGCTCGCGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGTGGGCGGATTGCTTGAGCTCAGGAGTTTCAGACCAGCCTGAGCAACATGGTGAGACCCTGTCTCTATCAAAAATAAAAAATAAAAAAAAATTTAAAGGAAAAAAATGTTTTTAAAAGAAAAGGGATTTGGAATCAGAACTGGCTCTCAGGCTCGTGCCTATAATACCAACACTTTGGGAGGCCAAAGCAGGAAAATGGCTTGAGCCCAGGAGTTTGAGACCAGCCCTGGCAACACAGTGAGACCCCATCTCTACAAAAACATGAAAAAATTAGCCAGACATAGTAGCGTGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTGCAGTAAGCCATGATTATGCTACTGCACTCCAGCCTGGGCAACGGCAACAGAGCAAGACTCTGTCTCAAAAACCAAAAAAACAAAAACAAAAACAAAAAAAAACGGCTCTTGGCTGGCCGGGCGTGGTGGGTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAAGTCAGGAGATCGAGACCATCCTGACTAACACGGTGAAACCCCATCTCTACTAAAAAAAAGAAAATACAAAAAAAATTAGCTGGGCATGGTGGTGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGAGACAGAGTGAGACTCCGTATTAAAAACAAAAAACAAACAAAAAAAAACGGCTCTTAGTGCCTGACCTCTGGATCAGTCCTTGGGCAAAGCACTTAACCTGTAGGAGCTACAGTTTCCTCATCTGCAAGGCTAACAAATACCATTCAGCACACCTCACCAAGGCTGAATTTCACAAATCTAAACTCAAGAGAAGAAAGCAGCGGCAGAAGAGTGCATGTACTAGGATAC
GGCAGAGTTGGGTAAGAACCAGGTCCGTCACACTCAAAAACCCAGGCTCTTTTGTACCAGACTGCCTGGCTTTCTGTCCCCTCAAGGAATAGAGCTGCTTTGAATGTTTGTGGCTCAGAAATAACTCAGAAACTCCAACCTAAATGTCTTAACTTTGTTCTCCTTCAAATTTAAACGGGCGTATTAATGTGTAACGGGAGTTAGTGCCCCAAGCCAAGGTACACTCAAGACCTGTTGCCTCAGCCCAGCATGCAGAGGTGGTGGGGTTCAGAATAGGCCTCCAGGAAGGAGAATTGTGCCCTGTAGTTGGTTACGCAGAGGTCAAAAGCCAGAAGCACATGGCCAATCTCCTTTAAGCACTTTCATTTCAGCTGTTCCCCTCTCCTGAGCCATGGTGGGTCCCTGGCAATGCCCGGTCTTCAATCTAGTTTCATTTCTTACTAGCTGTGCAACCTCCATGTCTCATACCCTCTCTGAGCCTTAGTTTCCTTTTCTGTAAAATGGGAATAGCAATTCCTTTGTTGGATTTTTTTTTTTTTTTTTTCTGAGACAGGGTCTTGCTCACTCTGTTCCCCAAGCTGGAGTACAGTGATATGATCACAGCTCACTGCAACCTTGAAATCCTGGGCTCAAGTGATACCCCTGCCTCCGCCTCTGGAGTAGCTGGGACTATAGGCATGCACCCCCACAGCCATACCTGGCTTTTTTTTTTTTTTTTTTTTTTCTGAGTCAAAGTCTTGCTCTGTCGCCCAGGCTGGAGCGCAATGGCGTGATCTCGGCTCACTGCAACCACTGCCTCCTGGGTTCAAGCAATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGATTATAGGTGCCTGCCACCATGCCTGGCCAATTTTTGTGTTTTTAGTAGAGATAGGGTTTCACCATATTGCCCAGGCTGGTCTCTTGGCCAGGCTGGTCTCGAACTCCTGATCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGGCTAGTTTATTTATTTATTTATTTATTTTTATTTATTTTTTTGAGACAGAATTTCGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCGAGATCTCAGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAATAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTTGATGTCCTGACCTTGTGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCCCAGCCAGCTAGTTTTTTAAAATAATTTTTTGTAGAGGTGGGTTTTGGGCTATGTTGCCCAGGCTGGTCTCAGACTCCTGGCTTTAAGCAATCCTCCAGCCTTAGCCTCCCAAAGTGCAGGGATTACAGGGGTTTGAGCCACCACACTGGGCCAGTTTGTTAGATCTTTATATAAGGATTCAATTAGGCTGCTTGTTTTGCCCAGTGGGGTAAAAGGTTTTTAGGCTGAGAAAGTGCATGATCGTCTTTTCCTCTTGTAAAAACCCCTCTGGCTGCTGTGTGAAGAGGATTGTAGCGAGGGGTGGCAGAAGGAGTCAGAGCCCAGCTGCGAAGTGAGGAGGGCCTTTCCAAAGGCAGTAGTGGACGGGACGGACAGAGGTGGGGGTCTTCTATGTGGCTGGCGGCCTGACCTGCTCACTCTGCTTTCAGCTGGTGATGGCCTCCCTGTACCACATCTATGTGGCCCTGGAGGAGGAGATTGAGCGCAACAAGGAGAGCCCAGTCTTCGCCCCTGTCTACTTCCCAGAAGAGCTGCACCGCAAGGCTGCCCTGGAGCAGGACCTGGCCTTCTGGTACGGGCCCCGCTGGCAGGAGGTCATCCCCTACACACCAGCCATGCAGCGCTATGTGAAGCGGCTCCACGAGGTGGGGCGCACAGAGCCCGAGCTGCTGGTGGCCCACGCCTACACCCGCTACCTGGTTGACCTGTCTGGGGGCCAGGTGCTCAAAAAGATTGCCCAGAAAGCCCTGGACCTGCCCAGCTCTGGCGAGGGCCTGGCCTTCTTCACCTTCCCCAACATTGCCAGTGCCACCAAGTTCAAGCAGCTCTACCGCTCCCGCATGAACTCCCTGGAGATGACTCCCGCAGTCAGGCAGAGGGTGATAGAAGAGGCCAAGACTGCGTTCCTGCTCAACATCCAGGTGAGGGTCGGGCAGCCTGGGGCAGCCTCTGCCTCCCCCCGTTGTTCCTCCAAGGGACCCTTCTCATTGTAGGGGAGGGTGCTATAGGTCATGGTTAACACAGGGAACCAGAGTTCCAGCACTGCCACTTACTAGCTGGGTGATCTTGGGCAAATGCCTTCATCTCTCTGTACCTCAGTTTCCCTATCTGTAAAATAGGGATAATAATGGTACCTATATCTTAGACTTATAAGGCTTGAGTGAATTTACAGCAGTAAAGTCCCCACAGCAGTGTCTGGCACAGAGGAAGCCCTCAAACATTCACTACTGTCATAATGGGACATGAGAATCAGTTGTAGCTCTCTGTGACAACAGTCTGTGGCAATGTATAAGTTGTGTGTGCACTAGTGTATAGCCAGGTTGGCACTCCCAGGGTTACAGGTGGCCTCTGCCTTCCAGGGACTCTCAGCCTAGCCAGAGAGGTTTACCTCTTTCTACAAGTGTCTCAAATCCAGGGGGAAGGTGGGGTTTGCGCAAAGCCTGGAAGGATGAATTCTTGGGCAGAGGTGGAGGGGTGAGGGGCTCCTTCTAACCAGATGTCATAGAGCCTTCTCTCTCTGCCACCCCCTGGAGGTGCCATGGGGCCTGGGGCTCGGGGTCATGCCCTCCTGGCTCCCTACTCCCAGCCGTGGATTGCAGAAGATTCTGGTCCTGGCCCCTGTTACGGAACAAGGCCTTTCCCTTCCACCCTCCCCCTTCAGAAAATCCAGTCCGTCTTGGAGGAAGAAAATCTGTGTCTTTCAGAGAAGTGTAGGCAAAAGAAAAGGGCCAGGTGCAGTGGCTCGCGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGTGGGCGGATTGCTTGAGCTCAGGAGTTTCAGACCAGCCTGAGCAACATGGTGAGACCCTGTCTCTATCAAAAATAAAAAATAAAAAAAAATTTAAAGGAAAAAAATGTTTTTAAAAGAAAAGGGATTTGGAATCAGAACTGGCTCTCAGGCTCGTGCCTATAATACCAACACTTTGGGAGGCCAAAGCAGGAAAATGGCTTGAGCCCAGGAGTTTGAGACCAGCCCTGGCAACACAGTGAGACCCCATCTCTACAAAAACATGAAAAAATTAGCCAGACATAGTAGCGTGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTGCAGTAAGCCATGATTATGCTACTGCACTCCAGCCTGGGCAACGGCAACAGAGCAAGACTCTGTCTCAAAAACCAAAAAAACAAAAACAAAAACAAAAAAAAACGGCTCTTGGCTGGCCGGGCGTGGTGGGTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAAGTCAGGAGATCGAGACCATCCTGACTAACACGGTGAAACCCCATCTCTACTAAAAAAAAGAAAATACAAAAAAAATTAGCTGGGCATGGTGGTGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGAGACAGAGTGAGACTCCGTATTAAAAACAAAAAACAAACAAAAAAAAACGGCTCTTAGTGCCTGACCTCTGGATCAGTCCTTGGGCAAAGCACTTAACCTGTAGGAGCTACAGTTTCCTCATCTGCAAGGCTAACAAATACCATTCAGCACACCTCACCAAGGCTGAATTTCACAAATCTAAACTCAAGAGAAGAAAGCAGCGGCAGAAGAGTGCATGTACTAGGATAC
Task1_train_28736
Consider this mutation in MCM5 (minichromosome maintenance complex component 5) on Chromosome 22. Is this a benign change or a disease-causing variant?
Pathogenic; Meier-Gorlin syndrome 8
CTGGGCATGGTGGTTCATCCCTGTAATACCAGCGCTTTGGGAGGCCGAGGTGGGCGGATTGCTTGAGCTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTTTACCAAAAATACAAAATAACTAGCCAGGCGTGATATGCACCTGTGGTCCCAGCTGCTTGGGAGGCTGAGGTGGGAGGATCACTTAAGCCCAGAACGGGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCATGTTTCAAATAATAATAATAAATAATAATAATAATAATAATAGCTAAAATGAAGGGCCAGACACTGCTTGAAGTACTTTGCATATATTTACTTAGTCTTCACCTCAACTGTGTGGCAGGTACTATTACCCCTGTGTTAGGGGTGAGAAAACTCAGGTACAGAATGGGTAAGTGTCTTGGCCCAGGTCTCACTGCTGGTAAGCATTAGAGCAGGATGTGATTGAACCCAAGTGTCTGATGAGCTGGGTCCTCTGCTGCGTTGTTGAATGGGTCTGCGGGGATCAGAGCCAGAGAAGGTCTGACATGATCCGAGTGGCGGGGTTGTATAGGGCGAGATGGTGGTCTTTGGATAGATAGGAAGTGTGCCAAATTTGCCACACTGGCACTGTCCAGTAGAAATAGTGAACTGCACATGCGACCCATGTATGTCTTCTCAGATTGTCTAACAGCCACATTAAAAAGTAGCTGGGTGCGGTTGTGTGCATACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCTTGGGCAACATAGCAAGACCCCGTTTCAATTTAAAAGGAAGAAGGGGAAAGAAAAAAGGAAAAACAGGTGAAGTTACTTCTGTTTAACTCGCTATATCTAAAATCTCATTTCAACATGTTGTTTGATATGTAGATTATTGAGATACTTTACATTCTTAGGAGCTCTGAGTCTTTGAAATCGTGCGTATTTTGCACGATTAAGGACATCTCAGTTAGGACTTTCCCAATTTCAGGGGCTCTATGGCAGTATGTGGCGTGTAGGTCTATATAGAGACGACAAGGGACTCACGATGGGGGCAGGCTTTCCCTGGGAGTCAGGAGTCCTCATCCTAGCCCTGAGGCTAACTCCTCTTCTCTGGGCCTCAGTTTGCTCATCTGTGAGTTGGGCCTCACAAGACTGTGTCACAGGGCTGTGGTGAGGCTTAGGTGAGCCATGGATGTGATGCCCTCAGCGGGGAGAACATCTGGGCACACCGAGGCCCAGGGCAGCATCCCCTTCCAGAGGGAGACGCACTGAGTTGGAGCCTTGAGTCCTATTCTGTACCCTGCAGCCAGCTTTGATGTGTGACCTTGGGCAAATCACAACCTCAGTGGGTCTTTTTGTCTTATGGGGGTCAAAGCATGGAGTTGTTATTGGGCCCTGACACCACCCCACTGCCCCAGGTATACACGTCTGGGAAAGGCAGCAGCGCAGCTGGACTGACAGCCTCGGTGATGAGGGACCCTTCGTCCCGGAATTTCATCATGGAGGGCGGAGCCATGGTCCTGGCCGATGGTGGGGTCGTCTGTATTGACGAGTTTGACAAGGTGAGTCTGATGAGGTGGGTAGTAGCCAAAAGGTGGGTGGCACCAGGGTATGTGACTTCCTGTGCTCAGCCAGCAGAAATCACCTCTGACTTGGGAGACATGTTTTCAATCCCTGGGCCGGTCACTCTAGTAACTGTGGGAAGCTGCTTAACCTCTTCAAGCCTCAGTTCCCATATCTGAAGAGTGGGGAGAAGAAAGGCAAGCCCACACAGTTGTTCCCATGATTAGAGGTGACCTGGTTGCTGCCATTGGCCTTGCGTGGAGCTGGTATTCAGGAGTGAGGGCTGCTGTTAGTTTTCCTGTTTCTACTGCTCCCTGCTCCCTCACTTCAGTAGGTCTGATGATATTTCTCTCTTCCCCACTTAGATGCGAGAAGATGACCGTGTGGCAATCCACGAAGCCATGGAGCAGCAGACCATCTCTATCGCCAAGGTGAGTGGCCCTCCATGGAGAGCCCAGCCTGCAGCAGCCCAGCGTGGCCCAACCGTCCTCAGGCTGCCCTGATTGGGACCAAGTTCTCTTTGCCCAGGCCTAGAATCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAAACGTGTATATAAGAAGGCATCTTTGCCATCTCCTCCCCCTTTTCGTCGTCTGTCGCCTGTTAGGCTGGGATCACCACCACCCTGAACTCCCGCTGCTCCGTCCTGGCTGCTGCCAACTCAGTGTTCGGCCGCTGGGATGAGACGAAGGGGGAGGACAACATTGACTTCATGCCCACCATCTTGTCGCGCTTCGACATGATCTTCATCGTCAAGGATGAGCACAATGAGGAGAGGGATGTGGTACGTCCAGGGGCAGGGCTGGTGGCCATGGGACCTGCCTCCAGGCAGGCTTGTGATTGTGTGGGAAGGAGAATGGAGAACAAGGGCCTTGGCTGGCAAAGTCCTGACTGTCAGGCTGTGAAATTGGGGAGCACGTGAGAGGGCGGTTGTTGTGGACTGCAGAGGATTGAAGCAGGGTCTGGAGTCCTGTGGCCTGCTCTGCCTCTGCCGTGAGTGATAAGCTGTGTGATTTGGGCTAAATCAGTTTCTCCCTGGGCCTCAGTCCCTTATATATGAAACAGAGGAGTTGACATTGGGTTATGAGTAATAGAACCTCAGTTCTGGTTAGTAAATTTTTCAAAGAAAAAAACATAGTGGTTTATAGAATTGGTAAGTCCGGCGGCTTAAGGCCCAGGTAGATCTGGATTCTCAAACAACTGTCTCTGCCTTTCTGTTCTGCTTCCCTTGGTGGAATCTTTGTACTTGGGCAGCTGTTCCTCTTGTGGTGGCAAAGACAAAATAAGATTTTGTCCTGTTAGCTTGTAGCTTAACAGCCCCCAGGAAAGAGGAGGCCCCGTCTTTTCCAGTACTTCTATCAAAAGTCCCAGGATAGACTCCTATTGGCTTGGGTAGATCCTATGTCCATGCCCAAGTTGGGGTGGACAAGATACATGCCCCAAGTCGGGGTGGACAAGCTGAACCCACCCCTTTATGGACCAGGGCAGAGGAGCAAGGAGCATTAAGTTCTCTCTAAAGGAGAATCCAGATGCTCCCATCAGAACGAGGGCCTGGTGCTGAGCAAACAGGCTGAGCACGCCTGAGATCTCAGCACCCTTTCCGGCTCCTTGATGCCAGGGCCCCATCAGCTCTTTCTGGCTGTTCCACCTCAGTGCTGGGACTCAGGCTTGGGACGGCCTGTGGGATGACCCATTATCCCCTCTGCTCTCCAGATGCTGGCCAAGCATGTCATCACTCTGCACGTGAGCGCACTGACACAGACACAGGCTGTGGAGGGCGAGATTGACCTGGCCAAGCTGAAGAAGTTTATTGCCTACTGCCGAGTGTGAGTCCTGGACGCAGGCCCACGGGGGTGAGGTTGCCCAGCTTCCCTGGGTGGGAGAGAACCCAGTCCCCTGGTCCTGCTCCTCCTCATGAAGAACAGCCCAGATGTTGCTGTTCTGAGGTTCTCAGCTCTACTGAATCTGCTCTGCTCCCTTCTAACCTTGCGTAGCTCACTGGCTCTTGGCTTCAGTTTTCCCACCTCCACACCAAGGAGGTGGGATTTAGATGGTCTTGAAGACCTCCTCGAGTCTGACATGCAGGGAGGCAGTGAAGTGTAGACATGGTAGACATGGGCTCTGGGTCATACCTGCCTTCACTCTATGACTTTGGGCAAGTTGGTTGGCCTCTCTGAGCCTTGATTTCCCCAGGCCTATCGATGTTTGCTAGGATTTTTGTAAGGATTGCACAAGATGATGAGTAAGTGCTTGGCATAGCCCTGCCCTGGGTAAATACTCAGTGAGTCGCAGCTGCAATTTGATTGTTCTCACAGATTTTCAATAATAATAATTATATACATAGTACTGGCTGGTTGCAGTGGCTCACGCTGTAATCCCAGCACTTTGGGAGGCGGAGGCAGGTG
CTGGGCATGGTGGTTCATCCCTGTAATACCAGCGCTTTGGGAGGCCGAGGTGGGCGGATTGCTTGAGCTCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTTTACCAAAAATACAAAATAACTAGCCAGGCGTGATATGCACCTGTGGTCCCAGCTGCTTGGGAGGCTGAGGTGGGAGGATCACTTAAGCCCAGAACGGGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCATGTTTCAAATAATAATAATAAATAATAATAATAATAATAATAGCTAAAATGAAGGGCCAGACACTGCTTGAAGTACTTTGCATATATTTACTTAGTCTTCACCTCAACTGTGTGGCAGGTACTATTACCCCTGTGTTAGGGGTGAGAAAACTCAGGTACAGAATGGGTAAGTGTCTTGGCCCAGGTCTCACTGCTGGTAAGCATTAGAGCAGGATGTGATTGAACCCAAGTGTCTGATGAGCTGGGTCCTCTGCTGCGTTGTTGAATGGGTCTGCGGGGATCAGAGCCAGAGAAGGTCTGACATGATCCGAGTGGCGGGGTTGTATAGGGCGAGATGGTGGTCTTTGGATAGATAGGAAGTGTGCCAAATTTGCCACACTGGCACTGTCCAGTAGAAATAGTGAACTGCACATGCGACCCATGTATGTCTTCTCAGATTGTCTAACAGCCACATTAAAAAGTAGCTGGGTGCGGTTGTGTGCATACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCTTGGGCAACATAGCAAGACCCCGTTTCAATTTAAAAGGAAGAAGGGGAAAGAAAAAAGGAAAAACAGGTGAAGTTACTTCTGTTTAACTCGCTATATCTAAAATCTCATTTCAACATGTTGTTTGATATGTAGATTATTGAGATACTTTACATTCTTAGGAGCTCTGAGTCTTTGAAATCGTGCGTATTTTGCACGATTAAGGACATCTCAGTTAGGACTTTCCCAATTTCAGGGGCTCTATGGCAGTATGTGGCGTGTAGGTCTATATAGAGACGACAAGGGACTCACGATGGGGGCAGGCTTTCCCTGGGAGTCAGGAGTCCTCATCCTAGCCCTGAGGCTAACTCCTCTTCTCTGGGCCTCAGTTTGCTCATCTGTGAGTTGGGCCTCACAAGACTGTGTCACAGGGCTGTGGTGAGGCTTAGGTGAGCCATGGATGTGATGCCCTCAGCGGGGAGAACATCTGGGCACACCGAGGCCCAGGGCAGCATCCCCTTCCAGAGGGAGACGCACTGAGTTGGAGCCTTGAGTCCTATTCTGTACCCTGCAGCCAGCTTTGATGTGTGACCTTGGGCAAATCACAACCTCAGTGGGTCTTTTTGTCTTATGGGGGTCAAAGCATGGAGTTGTTATTGGGCCCTGACACCACCCCACTGCCCCAGGTATACACGTCTGGGAAAGGCAGCAGCGCAGCTGGACTGACAGCCTCGGTGATGAGGGACCCTTCGTCCCGGAATTTCATCATGGAGGGCGGAGCCATGGTCCTGGCCGATGGTGGGGTCGTCTGTATTGACGAGTTTGACAAGGTGAGTCTGATGAGGTGGGTAGTAGCCAAAAGGTGGGTGGCACCAGGGTATGTGACTTCCTGTGCTCAGCCAGCAGAAATCACCTCTGACTTGGGAGACATGTTTTCAATCCCTGGGCCGGTCACTCTAGTAACTGTGGGAAGCTGCTTAACCTCTTCAAGCCTCAGTTCCCATATCTGAAGAGTGGGGAGAAGAAAGGCAAGCCCACACAGTTGTTCCCATGATTAGAGGTGACCTGGTTGCTGCCATTGGCCTTGCGTGGAGCTGGTATTCAGGAGTGAGGGCTGCTGTTAGTTTTCCTGTTTCTACTGCTCCCTGCTCCCTCACTTCAGTAGGTCTGATGATATTTCTCTCTTCCCCACTTAGATGCGAGAAGATGACCGTGTGGCAATCCACGAAGCCATGGAGCAGCAGATCATCTCTATCGCCAAGGTGAGTGGCCCTCCATGGAGAGCCCAGCCTGCAGCAGCCCAGCGTGGCCCAACCGTCCTCAGGCTGCCCTGATTGGGACCAAGTTCTCTTTGCCCAGGCCTAGAATCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAAACGTGTATATAAGAAGGCATCTTTGCCATCTCCTCCCCCTTTTCGTCGTCTGTCGCCTGTTAGGCTGGGATCACCACCACCCTGAACTCCCGCTGCTCCGTCCTGGCTGCTGCCAACTCAGTGTTCGGCCGCTGGGATGAGACGAAGGGGGAGGACAACATTGACTTCATGCCCACCATCTTGTCGCGCTTCGACATGATCTTCATCGTCAAGGATGAGCACAATGAGGAGAGGGATGTGGTACGTCCAGGGGCAGGGCTGGTGGCCATGGGACCTGCCTCCAGGCAGGCTTGTGATTGTGTGGGAAGGAGAATGGAGAACAAGGGCCTTGGCTGGCAAAGTCCTGACTGTCAGGCTGTGAAATTGGGGAGCACGTGAGAGGGCGGTTGTTGTGGACTGCAGAGGATTGAAGCAGGGTCTGGAGTCCTGTGGCCTGCTCTGCCTCTGCCGTGAGTGATAAGCTGTGTGATTTGGGCTAAATCAGTTTCTCCCTGGGCCTCAGTCCCTTATATATGAAACAGAGGAGTTGACATTGGGTTATGAGTAATAGAACCTCAGTTCTGGTTAGTAAATTTTTCAAAGAAAAAAACATAGTGGTTTATAGAATTGGTAAGTCCGGCGGCTTAAGGCCCAGGTAGATCTGGATTCTCAAACAACTGTCTCTGCCTTTCTGTTCTGCTTCCCTTGGTGGAATCTTTGTACTTGGGCAGCTGTTCCTCTTGTGGTGGCAAAGACAAAATAAGATTTTGTCCTGTTAGCTTGTAGCTTAACAGCCCCCAGGAAAGAGGAGGCCCCGTCTTTTCCAGTACTTCTATCAAAAGTCCCAGGATAGACTCCTATTGGCTTGGGTAGATCCTATGTCCATGCCCAAGTTGGGGTGGACAAGATACATGCCCCAAGTCGGGGTGGACAAGCTGAACCCACCCCTTTATGGACCAGGGCAGAGGAGCAAGGAGCATTAAGTTCTCTCTAAAGGAGAATCCAGATGCTCCCATCAGAACGAGGGCCTGGTGCTGAGCAAACAGGCTGAGCACGCCTGAGATCTCAGCACCCTTTCCGGCTCCTTGATGCCAGGGCCCCATCAGCTCTTTCTGGCTGTTCCACCTCAGTGCTGGGACTCAGGCTTGGGACGGCCTGTGGGATGACCCATTATCCCCTCTGCTCTCCAGATGCTGGCCAAGCATGTCATCACTCTGCACGTGAGCGCACTGACACAGACACAGGCTGTGGAGGGCGAGATTGACCTGGCCAAGCTGAAGAAGTTTATTGCCTACTGCCGAGTGTGAGTCCTGGACGCAGGCCCACGGGGGTGAGGTTGCCCAGCTTCCCTGGGTGGGAGAGAACCCAGTCCCCTGGTCCTGCTCCTCCTCATGAAGAACAGCCCAGATGTTGCTGTTCTGAGGTTCTCAGCTCTACTGAATCTGCTCTGCTCCCTTCTAACCTTGCGTAGCTCACTGGCTCTTGGCTTCAGTTTTCCCACCTCCACACCAAGGAGGTGGGATTTAGATGGTCTTGAAGACCTCCTCGAGTCTGACATGCAGGGAGGCAGTGAAGTGTAGACATGGTAGACATGGGCTCTGGGTCATACCTGCCTTCACTCTATGACTTTGGGCAAGTTGGTTGGCCTCTCTGAGCCTTGATTTCCCCAGGCCTATCGATGTTTGCTAGGATTTTTGTAAGGATTGCACAAGATGATGAGTAAGTGCTTGGCATAGCCCTGCCCTGGGTAAATACTCAGTGAGTCGCAGCTGCAATTTGATTGTTCTCACAGATTTTCAATAATAATAATTATATACATAGTACTGGCTGGTTGCAGTGGCTCACGCTGTAATCCCAGCACTTTGGGAGGCGGAGGCAGGTG
Task1_train_28737
Gene MB (myoglobin) on Chromosome 22 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Myopathy, sarcoplasmic body
CCACCCTGTACAGCCCCTCAGTCCCTCAGAGAGACAATCTGTCCACAGGTGAGGTGGAGACTGTCTTATGAACAGCGCAGAGCGAAGGTCCACCGTGAGGGGGAAAAGCAGACATCTGGGCTCTGTCTCAATTTTTTGCAGAGGTTATGCATCAGATTAAGCATGTTTTAGGGAGACCTGGGTTCTAGTGGCCAACTGGTTGTGATATCTTGGCTGCATGGTTTTTTCTATCCAACACTCGGCTTCTTCCTCTCTAGAGAGAGAACTCAGTCATTGGAAGTGTATGGTGAGCCAAACACGTGCCAGTGGGGCACAGAAATGGTAGCCCCTAGGGAGCTGAGTGTCTGCTGGGAGACCGCTGGGCAAAGAGACAAATTATCACACAGCCTGGCAGTGCCATGACCGGAGATGAAGATAAAGTGCCATGGTGCAGGGAGGGGCTGGCAGATGGAACCGCTGAAAGCCTCGTGGGCCTGGGGTTCCAAGCAGGGGAGATGGCTTCGCACTGGGCCTTAGTGGATGAACAGGGATTTGCAGAGAGAAGATGGGCAGGCAGGGACGGCCTCACATGCAGGGTTGTCTGTTCACGCTGGTGATGTGGAGCAGTTGGGCAGGCAGGACTCTGCGCAATTGTGGGGTGGGGTGCAAAGGTCGAAGTTAAAGAGGGGTGGCGGTGGTTGTCAATGGGTGATATTGTGCCACAGTGGATTCAGAGCCTGGTTCCAGAGTACCATGGATCTGACTGTACCTCCTGGCTTATCAGCTGTGTGACCTTGGGCAAGCTACTTAAACCCTCTGAGCTCTCAGTTTCCAAACCAGCAAAATGGGGATGAGAAGGGTACTTGCCTGGGGCAGAGACTGCTAATTACGTCCACAATATCCATTTCCCTTTCTTCCTTGGTAACAGAACACTAGTTGTATTTGGAGGGGTGATAGACTACCTTTCCCAGCTTCCCGTGCAGACAGGATGGCTCCGTAACTAACTTCTGGCCAATGAGATGTAAATAAAATTGTTGGATGAGATTTCTGGGACTCCTTAAACTCCTCAAAAGAGAGCATTCCTCTCTTTCTCCTGCTTCCAGTTGGGAATATAGAAGAGGTGGCTGGAGCTCTTGCAGTCATTTTGGCCATGAGGCAACTTTGAGGATGGATGCCATGTGCTAGGCATGGCAGCAAATGCTCACTGTGGCCCATCCCAGCGGGTAGCTATCACCACATCCTAATCCTCATGGCTGCACCAGACTTCCTGCTGTTTCTACCCTCGGGGGATGCACCTGTCCCTGTGGTCCTTCATCCCCAGCTCCCTCCTCTCCCCAAATCGCCTCCTCCCACCAGTTATAGACACACAACCTGAAGCCCAGGCTCCTGCCCCCAACCCTGATCCACCCAACTTTCCAACCCATCTCAGGAGGTCCAAACCAATTGCTTGTGCTGGAAACCGAGGTCCTGTCTCTTCATCTGTGAAGATGCTGGAACCAATAGAGCCAACCTGCTGGTCACCCCCACCCCAAATTGAGCCCCACTTGCTGAGCTCCTGCCACATAAGTCCTGCATGTACCAGACTCCCAGTGGCACAGCAGTTAGGGGCTGGGGTTCTGTAGTAATAGAGACCTGCGTTTGAATCTTGGCTCTGCCATTATCCACCTCCTGTGACCGTGGACAAGCTGCTTAACCTCTGTGAGCCTCAGTTTCCCCATCTATCAAGTGGATATGATAATGGTACCTACCCATGGAGAGGATGCAAATTTTGCACCCAATATCCCCTCTCCCTTTCCTCTTTGGTAATAAGATGTGAATTTGGCATACTAAATTAAAAATGCTAAGTGTGTTCATTCTCAACAATCCCAGGAGGAAGGCAAAGTGGGTGGCAGTCCCCTTTACAAATGAGAAACCTGGGGCACAGAGAAGAGTGGCATAGGTCATCCCACAAGTTAGTGGCTGAGCTTGGACTCGAACCCAGATCCCATTGCCCCACCCGAGGCCTTCCCCGCATCCTCCCACCTGCCCAGGCTCTGCTCCTACCTCCAGGTACTTCACGGGGATCTTGTGCTTGGTGGCATGCGACTGTGCCAGGGGCTTAATCTCTGCCTCATGATGCCCCTTCTTCTTAAGGATGCCACCCAGGGCGGTGAGCACGGTGGCACCATGCTTCTTTAAGTCCTCAGACGCCTTCATCTCGTCCTCTGACTTCAGGTGCTTGAACTTGTCAAACTTCTCCAGAGTCTCTGGGTGACCCTTAAAGAGCCTGTGGGCACAGGGAAGGCTGGAGTCGGCATGGGAGGTGCGGTGTGAGGTCTGGGGGCAGCCAGACTAGAGTTCAAGTTTAGCTCCCTGTCTTCCCAGCTGTGTGACCTTGGGCCATTCACTTCACCTCTCTGTGCCTCAGCTTCCTCATATAAGGGATGGGGATAACTTGTCCCTACTTGAAGGATTAAGTGAGATAGTGTGTGCTATGTACCAACAGGGTGTCTGGCACATAGTGAGTGTCATATAATTCCCATTTTACAGATGTGGAAACCGAGGTTCTGAGGCGTAAAGTCACCAGCTCACTATTGCAGGGGTGCTGTCCAGAGAAGCCAGGCTGGAATGAGGTCTGAGTGACCAAAACAGCAGTTCTAGTCCACGCTGCGACCATCTCTGCAGCTTCCTGCCCAGGGATTGTCCTTCAGCTGCTTAAATACCTCTAGCTACAGGAGGCTCACTCCTACCTGTGAGGGCCATTCCACTCCAGAGCAATCCTCACACTCAGAAACCTCTTGCTTGTTTTGAGCCCAAGCTGTGACTCTCTGAACCTCCCAGTCCCCTCACTGTGCAGATGACGAAGGGTCCTGGTGGGAGCAACTCAACCCAGCCCTGAGACAGGCACCCACTCCTGCCAGGCACTCAGTGAGGTGCCCCAGAGGCCTCTGCTGGGACTCTGAGCAGCCACCTCCAGCTTTAGACCTCGGTCCTTCCTGCCCACCTCCAACTTTAGACCTTGGTCCTTCCTGCCCACCTCCAGCTTTAGACCTCAGTCCTTCCTGCCCACCTCCAGCTTTAGACCTCAGTCCTTCCTGCTGTGAGCAGGTGGGTGCTGGTTAAAGGGAGTCAGACCTGCCCTCTGGGTAGGAGTGAGTTTCCGCCTTTTACTCATGGAAGACCACAGAGATAAGTGGCCAAGGTCACTTGGCTAGCTAGCGGCAGAGCCCAGACCTAAACCCAAAATGGAACAGTTTCATAACTCCCACCCTTTCCCTTGTGCCACAGCTGAAATGTTTGGCACGGGCAACCCTGTCTGCCCAGGGCTCTCTCTCCTGTCTAATGGTTTCAGTTCCTTGAAAAGCTCCTCTTTTATGATACCCAGGCTCTGTGACATCCTTGTAAAAGTACACAGTATGTATTGTGGCCACACTCCAGTTTGCGCCCTGAGCCACCATGCCCAGAAGTTGTCACAAGGAAGCACCTGATCCCCGTAGTCTCCATCCCAGGGTTTTATGAGGAGGGTATTTCACAACCAGGATGCTGAGCTCCTCAACCTGAAAATGAGTTCATGGTTTTTTTGTTTTTTGTTTTTCTTTTTTGAGATGGAATCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCTGCTCACCGCAACCTCCACCTCCTGGGTTTGAGCAATTCTCAGAATTCTCCATGTTAGGCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGCCCAGCCATATTAACTGATTTTAAAATCCTGATGGGGTAGACGCCATTTTGCAGAGGAAGAAACAGAGGCACCGAAAGACTAACTAGCTGGGGATTTAACCCAGGCAGTCTGGCTTCATGTCTATACTCTTGATGACTATTCGGACTTTGTTATTGTTACACAGAGATATTTACAGGCAAACTGATACCTACATGGACATGTATCAACACCTCACACGTGTACATGCATGCAGGCTCTCACAGATGTGTGTGCACACTCACATATGGGCCTGCACACTCACACAGAGGTACACATAAATATATCCCAGCACACGCCATACTCACCTGCACACACACACAGAGACACGCACAAGCC
CCACCCTGTACAGCCCCTCAGTCCCTCAGAGAGACAATCTGTCCACAGGTGAGGTGGAGACTGTCTTATGAACAGCGCAGAGCGAAGGTCCACCGTGAGGGGGAAAAGCAGACATCTGGGCTCTGTCTCAATTTTTTGCAGAGGTTATGCATCAGATTAAGCATGTTTTAGGGAGACCTGGGTTCTAGTGGCCAACTGGTTGTGATATCTTGGCTGCATGGTTTTTTCTATCCAACACTCGGCTTCTTCCTCTCTAGAGAGAGAACTCAGTCATTGGAAGTGTATGGTGAGCCAAACACGTGCCAGTGGGGCACAGAAATGGTAGCCCCTAGGGAGCTGAGTGTCTGCTGGGAGACCGCTGGGCAAAGAGACAAATTATCACACAGCCTGGCAGTGCCATGACCGGAGATGAAGATAAAGTGCCATGGTGCAGGGAGGGGCTGGCAGATGGAACCGCTGAAAGCCTCGTGGGCCTGGGGTTCCAAGCAGGGGAGATGGCTTCGCACTGGGCCTTAGTGGATGAACAGGGATTTGCAGAGAGAAGATGGGCAGGCAGGGACGGCCTCACATGCAGGGTTGTCTGTTCACGCTGGTGATGTGGAGCAGTTGGGCAGGCAGGACTCTGCGCAATTGTGGGGTGGGGTGCAAAGGTCGAAGTTAAAGAGGGGTGGCGGTGGTTGTCAATGGGTGATATTGTGCCACAGTGGATTCAGAGCCTGGTTCCAGAGTACCATGGATCTGACTGTACCTCCTGGCTTATCAGCTGTGTGACCTTGGGCAAGCTACTTAAACCCTCTGAGCTCTCAGTTTCCAAACCAGCAAAATGGGGATGAGAAGGGTACTTGCCTGGGGCAGAGACTGCTAATTACGTCCACAATATCCATTTCCCTTTCTTCCTTGGTAACAGAACACTAGTTGTATTTGGAGGGGTGATAGACTACCTTTCCCAGCTTCCCGTGCAGACAGGATGGCTCCGTAACTAACTTCTGGCCAATGAGATGTAAATAAAATTGTTGGATGAGATTTCTGGGACTCCTTAAACTCCTCAAAAGAGAGCATTCCTCTCTTTCTCCTGCTTCCAGTTGGGAATATAGAAGAGGTGGCTGGAGCTCTTGCAGTCATTTTGGCCATGAGGCAACTTTGAGGATGGATGCCATGTGCTAGGCATGGCAGCAAATGCTCACTGTGGCCCATCCCAGCGGGTAGCTATCACCACATCCTAATCCTCATGGCTGCACCAGACTTCCTGCTGTTTCTACCCTCGGGGGATGCACCTGTCCCTGTGGTCCTTCATCCCCAGCTCCCTCCTCTCCCCAAATCGCCTCCTCCCACCAGTTATAGACACACAACCTGAAGCCCAGGCTCCTGCCCCCAACCCTGATCCACCCAACTTTCCAACCCATCTCAGGAGGTCCAAACCAATTGCTTGTGCTGGAAACCGAGGTCCTGTCTCTTCATCTGTGAAGATGCTGGAACCAATAGAGCCAACCTGCTGGTCACCCCCACCCCAAATTGAGCCCCACTTGCTGAGCTCCTGCCACATAAGTCCTGCATGTACCAGACTCCCAGTGGCACAGCAGTTAGGGGCTGGGGTTCTGTAGTAATAGAGACCTGCGTTTGAATCTTGGCTCTGCCATTATCCACCTCCTGTGACCGTGGACAAGCTGCTTAACCTCTGTGAGCCTCAGTTTCCCCATCTATCAAGTGGATATGATAATGGTACCTACCCATGGAGAGGATGCAAATTTTGCACCCAATATCCCCTCTCCCTTTCCTCTTTGGTAATAAGATGTGAATTTGGCATACTAAATTAAAAATGCTAAGTGTGTTCATTCTCAACAATCCCAGGAGGAAGGCAAAGTGGGTGGCAGTCCCCTTTACAAATGAGAAACCTGGGGCACAGAGAAGAGTGGCATAGGTCATCCCACAAGTTAGTGGCTGAGCTTGGACTCGAACCCAGATCCCATTGCCCCACCCGAGGCCTTCCCCGCATCCTCCCACCTGCCCAGGCTCTGCTCCTACCTCCAGGTACTTCACGGGGATCTTGTACTTGGTGGCATGCGACTGTGCCAGGGGCTTAATCTCTGCCTCATGATGCCCCTTCTTCTTAAGGATGCCACCCAGGGCGGTGAGCACGGTGGCACCATGCTTCTTTAAGTCCTCAGACGCCTTCATCTCGTCCTCTGACTTCAGGTGCTTGAACTTGTCAAACTTCTCCAGAGTCTCTGGGTGACCCTTAAAGAGCCTGTGGGCACAGGGAAGGCTGGAGTCGGCATGGGAGGTGCGGTGTGAGGTCTGGGGGCAGCCAGACTAGAGTTCAAGTTTAGCTCCCTGTCTTCCCAGCTGTGTGACCTTGGGCCATTCACTTCACCTCTCTGTGCCTCAGCTTCCTCATATAAGGGATGGGGATAACTTGTCCCTACTTGAAGGATTAAGTGAGATAGTGTGTGCTATGTACCAACAGGGTGTCTGGCACATAGTGAGTGTCATATAATTCCCATTTTACAGATGTGGAAACCGAGGTTCTGAGGCGTAAAGTCACCAGCTCACTATTGCAGGGGTGCTGTCCAGAGAAGCCAGGCTGGAATGAGGTCTGAGTGACCAAAACAGCAGTTCTAGTCCACGCTGCGACCATCTCTGCAGCTTCCTGCCCAGGGATTGTCCTTCAGCTGCTTAAATACCTCTAGCTACAGGAGGCTCACTCCTACCTGTGAGGGCCATTCCACTCCAGAGCAATCCTCACACTCAGAAACCTCTTGCTTGTTTTGAGCCCAAGCTGTGACTCTCTGAACCTCCCAGTCCCCTCACTGTGCAGATGACGAAGGGTCCTGGTGGGAGCAACTCAACCCAGCCCTGAGACAGGCACCCACTCCTGCCAGGCACTCAGTGAGGTGCCCCAGAGGCCTCTGCTGGGACTCTGAGCAGCCACCTCCAGCTTTAGACCTCGGTCCTTCCTGCCCACCTCCAACTTTAGACCTTGGTCCTTCCTGCCCACCTCCAGCTTTAGACCTCAGTCCTTCCTGCCCACCTCCAGCTTTAGACCTCAGTCCTTCCTGCTGTGAGCAGGTGGGTGCTGGTTAAAGGGAGTCAGACCTGCCCTCTGGGTAGGAGTGAGTTTCCGCCTTTTACTCATGGAAGACCACAGAGATAAGTGGCCAAGGTCACTTGGCTAGCTAGCGGCAGAGCCCAGACCTAAACCCAAAATGGAACAGTTTCATAACTCCCACCCTTTCCCTTGTGCCACAGCTGAAATGTTTGGCACGGGCAACCCTGTCTGCCCAGGGCTCTCTCTCCTGTCTAATGGTTTCAGTTCCTTGAAAAGCTCCTCTTTTATGATACCCAGGCTCTGTGACATCCTTGTAAAAGTACACAGTATGTATTGTGGCCACACTCCAGTTTGCGCCCTGAGCCACCATGCCCAGAAGTTGTCACAAGGAAGCACCTGATCCCCGTAGTCTCCATCCCAGGGTTTTATGAGGAGGGTATTTCACAACCAGGATGCTGAGCTCCTCAACCTGAAAATGAGTTCATGGTTTTTTTGTTTTTTGTTTTTCTTTTTTGAGATGGAATCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCTGCTCACCGCAACCTCCACCTCCTGGGTTTGAGCAATTCTCAGAATTCTCCATGTTAGGCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGCCCAGCCATATTAACTGATTTTAAAATCCTGATGGGGTAGACGCCATTTTGCAGAGGAAGAAACAGAGGCACCGAAAGACTAACTAGCTGGGGATTTAACCCAGGCAGTCTGGCTTCATGTCTATACTCTTGATGACTATTCGGACTTTGTTATTGTTACACAGAGATATTTACAGGCAAACTGATACCTACATGGACATGTATCAACACCTCACACGTGTACATGCATGCAGGCTCTCACAGATGTGTGTGCACACTCACATATGGGCCTGCACACTCACACAGAGGTACACATAAATATATCCCAGCACACGCCATACTCACCTGCACACACACACAGAGACACGCACAAGCC
Task1_train_28738
A mutation found in MYH9 (myosin heavy chain 9) on Chromosome 22 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Hearing loss, autosomal recessive
ACTGGGCCAGGTGGCCTCAAGCAACTTCCAATTCAAAAGACAATAGACTTTTAGGACAGCTGGGAATAAACTACCTAGAGTTTACTGTGTGTTCAAAACACTAAGCTAAAGCCTCAAAGGCAAGGAGCCAGAAGGGGCAGGGATTGCTTTGTGCAGTCCTTTCTTGGTGACATTCGTGCCTTGCTTGTGGGCTCTGGTTGAGGAACAAGCTACCTTTTGAGAGAAGTGCCGAGGCAAAGGGGCGGGTGGGCAGGGCGGCTCACCTGAGCTTGTTCTTTAGGGAGCTGACTTCGCGGTTCATGGCATCGGCCGTCTCAGTGGCGTCCTCCAGCTCGCGCTGCAGTTTCCGGCGGGAGGCGTTGGCCCGCTGGGCCTCCTCTTCGGCCTCCTCCAGCTGCCGCTTGAGCTGCTTCAGGCGGGTAGATGCCTTGTCGGCCTGCGGAGATGGACGTGTGGCCCGTGGCCCCGGTTAGGGGCTCTGGGCGTGCAGCCAGTCAGCCCCACTGCCCTGCCTGTCACCCCATCTGCTGCCCAGCCCCGCTGCCCTTCTCACTGCCCCACCAGCGCCCACACCTGGTCCTTGTACTGCTCGGCGTTCCTCCGCTCGTCATCCACCTGCAGCAGCACATCCTTCAGCTTCTTCTCGGTCCGACGCACCTGTTTGCAGGCTGCCTGGCGCTCCCTGCATGACAGACAAGGTGGCTCAGAGGGAACACCCTCCTTCAGAGGGTCCGGCCAACAAGCCCTAACCAGGACCACCCATTCCCCGGGGCTCACTGGCATCTAGGGATCACGTAGGGAGGCCTTTGCTAGACACCTATGTGTACCCGGCTTCTTACGACGGGCACTGCAAATAGCCCCATTTACAGATGAGGAAATGGGCTCAGGTAAGGGAAGCGACACACCTCAAAGAGCATCTATGTAACTGGAAAAGAGGTCTGGGGGCCTACTGTAAACCCCATTCCCTCCAAGGAAGTCTCAGTCCTGCTGAGCCCATAGGACAACTGTCCTAGTGGGCAGGACCCCCCTGTACCTCCTGCTCTGATTCACTCTCAGACACAGCCACCAAAACTCCTGGCTTTAGAGGTGGAACAGAGAATCCTGTTCAAACCCCACAAGCTCCCCCAACCACCCAACCTGTGGAAGGGATGAGGGCCCCATCAGGAGGGAGGGAAACAGCCCCAGGCTCAGGAGACAGAGAGCTGGTTGTGGCCCAGATTTGGGCAGGACTGCAGGGGGGCCAGAGTTTTTTCCAGGACAGCTGGGGTTGGGCGGGGCCAGGGGCACGTACTTGGTCTCGTTGTCCAGCTGCTCCTCCAGCTGTGCAATCTTGGCCTCGAGGGCGGTGATGGAGGCCTTGTACTTGGACTTGACAGTGCCCTCCATCTCCTGCAGCTTGACCTTAAGCTCCTTGTTCTGGCGTTCCAGCTGCTGCCGAGCATTCTCGTTCTTCTGGGCGTGGCTGCGCTCCAGGTTCAGGTCGGTGTTGATCTGGTCGATCTGCAGAAGAAGGGCCAGTGACCTTGGGGAGGGCTGGGGCCCTGGCTGGAGGGCATGAGCAGGGCCAGAGGAAGGTGGCAGCAGGATCCCACCAAACCCTTGGGGTCCAGAGTCTTGGGTCTCCCAGAAAAGGGAAGATTAGAAACTTCTGAACACCCAACACAGAAGCCAGAGGGGGACCTTTCAGGTCCAGGTGCCTGGACATTTTCCCCTAAGCGCCTGGGGAGCAGCTGGCACTTGGCCTGTGCTTCTGCCGGCTGGGTCCAAGGCCAGCTCTGCCGTGGTGGCTCCAGCCAGAGCCCAGAGTGGGAGAAGTCCTGGCACCCACCTGCAGGTTGGCCTTCTTCAGCCGGTCGTTGATCAGCTCCGTGTTGCCCTGCTCCTCCTCCAGCTCCTCCTCCAGCTGGGCGATGCGGGCCTCCAGACGCCGCTTCTCCTCTAACGCCAGGGCTCTGCGGGGTGGGCGGGAGAAGTGAGGGGCCTACCCTGGGGACACACCTGGTCCCCCCCAACTCTGCCCCCTCACTCAGCTCACCCTTTGCCGCTGCTGTTGGCGATCTCGTCAGCCAGCTCATCCCGCTCCTGCTGGGCCTGGCGCTTGGCACGCTCCGCGGCTGCCAGTTCCTGCCACAAAGACCCAGAGTGTGACCTAAAGGCAGCCACAGCCCCACAAGACCATCCTTCCCAGCCCCAGGCACCCTCCCCTCAAGCCCTTCCCCAGGCCCACCTCCCCACGAAGCCCTTCCTCCAGAAACCCTCTAGCTCACAGGGCTGGTGCCCCCCTGAAGATATAGCTTAAACACCATATGTTTATAAAACTCTTACATTTAAGTGCTAGGAATCAAGCCAGGTGCCAGGGTATGGCGATAAGTAAGAAGTGTCCTGGCCTAACCAGGGAGACCACGTGGACAGAGTCACTCAGGGCGGCCCCTCCCTGTTCTGGGTAAGCCAGAGCTTGGAGTCAGCTCTGGAGGCCACAGGCAGATGGCTACACCCTGGACGCACTCGCAGCCGGCACATCACGCTGCAGGGCACCCTCCAGACCTGGGAAACACTTCAGGACGGGCTCAGGTGCGACGGGCAGGGCGGCCGAGGGGACGCTCAGACCCCTTCTCACCAGGCAGCATTCACAGCAGGAGGTGGTGGTGGCCACAAAGCCTCATCTCATGTGAGGGATGCCAGTTTCACACACACACACACTCTGATCATACGAGGGAGCCCCGCTATGAAACGGAACCCTGGAGGGAATCCTTATGTAACCTGAGAGCCATCCCCAGCCAATTCCTGGAGCCCAGTAGGACTCCAGCCCTGTCCTCAGCTGAAAGCCCCACGCTGCCACCTGCTGGCCGCAGGGCAGCGGTGCCGCTCTCCATTGCAGCCCCACCCACCTCCTGCAACTGGATCATCTCGGCCTCCATGCTCTTCAGCTTCTTCTCGTTCTCTTTGGCCTGGGCCAGGATCTCCTCACGAGAGGCGCGGGTGTCATCCAGCTCGCGCATGCAGTCCTTCATCTGGGCCTGGGGTGGGGACAGAGGCTTGGCACCCCACCCAGCTCCTTGGCCCTCCACCCCAACCCTCATGGGTCACCTCGCCAACAGGGCTCATGGCTGGTGCTCCACTCAATGCTGTATTTAACCAACTAACCGTGGTGACAGGGCAAAAAGGCAACTAAAGACAATCATCTGTGTATCCCACCCCGTAATGCACACTTTGACAGTGTTCGTCACCGTGGACGTGAGCCCAAGCTGAGCTTCATTTTCTACTTTCTGTCCCCTCCTGTGGGCCGGAAGCCAGTGCCCATGGTGCCACCCCTAATGCGCACCTGCCACTCAAAACCAGTGCCCAGCCTGCCGGTCCATCCCCACCACAGGCAGGAAACACCTTTCCTTTTGTTATTCTCCTGTTACTTCTTTTAACACTAAAGACCTTTGTCAAATAGCCTTTTTTTCCTTTTGCAGATAAATCCGAAATTGAGATTCCCCAAATCAAAGAGAGTGACTGGCTGTGTGCAGCCCGACCACACCAGTAAAAAAATGCCACCAGCAATCAGAGCATCTATGCCCACAACCTTGACCACAATGAAGTTTTAAAGTTTTTGTGGGTTTTTTTTTTACACTTAACATTTTTTTTTTGGCCGGGCGCAGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGCGGCGTGCGCCTGTAGTCCCAGCTGCTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGCAAGCCGAGATCATGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACTCCGTCTCAAACAAACAAACAAAAAAAAATTTGTTAAACTAAGGTTATTCTTGTTACATGATATGGCGTATCAGAGCTGTTTTTACGTGTTAATTATTCTTTAATTATTAGTGAGGTGAAGATTTCCAAGTATGTGTCCCACACTCCGGGCTGCTTCTTGGAACCATCGCCCCAGAGCCCAGAAGGCTGAAG
ACTGGGCCAGGTGGCCTCAAGCAACTTCCAATTCAAAAGACAATAGACTTTTAGGACAGCTGGGAATAAACTACCTAGAGTTTACTGTGTGTTCAAAACACTAAGCTAAAGCCTCAAAGGCAAGGAGCCAGAAGGGGCAGGGATTGCTTTGTGCAGTCCTTTCTTGGTGACATTCGTGCCTTGCTTGTGGGCTCTGGTTGAGGAACAAGCTACCTTTTGAGAGAAGTGCCGAGGCAAAGGGGCGGGTGGGCAGGGCGGCTCACCTGAGCTTGTTCTTTAGGGAGCTGACTTCGCGGTTCATGGCATCGGCCGTCTCAGTGGCGTCCTCCAGCTCGCGCTGCAGTTTCCGGCGGGAGGCGTTGGCCCGCTGGGCCTCCTCTTCGGCCTCCTCCAGCTGCCGCTTGAGCTGCTTCAGGCGGGTAGATGCCTTGTCGGCCTGCGGAGATGGACGTGTGGCCCGTGGCCCCGGTTAGGGGCTCTGGGCGTGCAGCCAGTCAGCCCCACTGCCCTGCCTGTCACCCCATCTGCTGCCCAGCCCCGCTGCCCTTCTCACTGCCCCACCAGCGCCCACACCTGGTCCTTGTACTGCTCGGCGTTCCTCCGCTCGTCATCCACCTGCAGCAGCACATCCTTCAGCTTCTTCTCGGTCCGACGCACCTGTTTGCAGGCTGCCTGGCGCTCCCTGCATGACAGACAAGGTGGCTCAGAGGGAACACCCTCCTTCAGAGGGTCCGGCCAACAAGCCCTAACCAGGACCACCCATTCCCCGGGGCTCACTGGCATCTAGGGATCACGTAGGGAGGCCTTTGCTAGACACCTATGTGTACCCGGCTTCTTACGACGGGCACTGCAAATAGCCCCATTTACAGATGAGGAAATGGGCTCAGGTAAGGGAAGCGACACACCTCAAAGAGCATCTATGTAACTGGAAAAGAGGTCTGGGGGCCTACTGTAAACCCCATTCCCTCCAAGGAAGTCTCAGTCCTGCTGAGCCCATAGGACAACTGTCCTAGTGGGCAGGACCCCCCTGTACCTCCTGCTCTGATTCACTCTCAGACACAGCCACCAAAACTCCTGGCTTTAGAGGTGGAACAGAGAATCCTGTTCAAACCCCACAAGCTCCCCCAACCACCCAACCTGTGGAAGGGATGAGGGCCCCATCAGGAGGGAGGGAAACAGCCCCAGGCTCAGGAGACAGAGAGCTGGTTGTGGCCCAGATTTGGGCAGGACTGCAGGGGGGCCAGAGTTTTTTCCAGGACAGCTGGGGTTGGGCGGGGCCAGGGGCACGTACTTGGTCTCGTTGTCCAGCTGCTCCTCCAGCTGTGCAATCTTGGCCTCGAGGGCGGTGATGGAGGCCTTGTACTTGGACTTGACAGTGCCCTCCATCTCCTGCAGCTTGACCTTAAGCTCCTTGTTCTGGCGTTCCAGCTGCTGCCGAGCATTCTCGTTCTTCTGGGCGTGGCTGCGCTCCAGGTTCAGGTCGGTGTTGATCTGGTCGATCTGCAGAAGAAGGGCCAGTGACCTTGGGGAGGGCTGGGGCCCTGGCTGGAGGGCATGAGCAGGGCCAGAGGAAGGTGGCAGCAGGATCCCACCAAACCCTTGGGGTCCAGAGTCTTGGGTCTCCCAGAAAAGGGAAGATTAGAAACTTCTGAACACCCAACACAGAAGCCAGAGGGGGACCTTTCAGGTCCAGGTGCCTGGACATTTTCCCCTAAGCGCCTGGGGAGCAGCTGGCACTTGGCCTGTGCTTCTGCCGGCTGGGTCCAAGGCCAGCTCTGCCGTGGTGGCTCCAGCCAGAGCCCAGAGTGGGAGAAGTCCTGGCACCCACCTGCAGGTTGGCCTTCTTCAGCCGGTCGTTGATCAGCTCCGTGTTGCCCTGCTCCTCCTCCAGCTCCTCCTCCAGCTGGGCGATGCGGGCCTCCAGACGCCGCTTCTCCTCTAACGCCAGGGCTCTGCGGGGTGGGCGGGAGAAGTGAGGGGCCTACCCTGGGGACACACCTGGTCCCCCCCAACTCTGCCCCCTCACTCAGCTCACCCTTTGCCGCTGCCGTTGGCGATCTCGTCAGCCAGCTCATCCCGCTCCTGCTGGGCCTGGCGCTTGGCACGCTCCGCGGCTGCCAGTTCCTGCCACAAAGACCCAGAGTGTGACCTAAAGGCAGCCACAGCCCCACAAGACCATCCTTCCCAGCCCCAGGCACCCTCCCCTCAAGCCCTTCCCCAGGCCCACCTCCCCACGAAGCCCTTCCTCCAGAAACCCTCTAGCTCACAGGGCTGGTGCCCCCCTGAAGATATAGCTTAAACACCATATGTTTATAAAACTCTTACATTTAAGTGCTAGGAATCAAGCCAGGTGCCAGGGTATGGCGATAAGTAAGAAGTGTCCTGGCCTAACCAGGGAGACCACGTGGACAGAGTCACTCAGGGCGGCCCCTCCCTGTTCTGGGTAAGCCAGAGCTTGGAGTCAGCTCTGGAGGCCACAGGCAGATGGCTACACCCTGGACGCACTCGCAGCCGGCACATCACGCTGCAGGGCACCCTCCAGACCTGGGAAACACTTCAGGACGGGCTCAGGTGCGACGGGCAGGGCGGCCGAGGGGACGCTCAGACCCCTTCTCACCAGGCAGCATTCACAGCAGGAGGTGGTGGTGGCCACAAAGCCTCATCTCATGTGAGGGATGCCAGTTTCACACACACACACACTCTGATCATACGAGGGAGCCCCGCTATGAAACGGAACCCTGGAGGGAATCCTTATGTAACCTGAGAGCCATCCCCAGCCAATTCCTGGAGCCCAGTAGGACTCCAGCCCTGTCCTCAGCTGAAAGCCCCACGCTGCCACCTGCTGGCCGCAGGGCAGCGGTGCCGCTCTCCATTGCAGCCCCACCCACCTCCTGCAACTGGATCATCTCGGCCTCCATGCTCTTCAGCTTCTTCTCGTTCTCTTTGGCCTGGGCCAGGATCTCCTCACGAGAGGCGCGGGTGTCATCCAGCTCGCGCATGCAGTCCTTCATCTGGGCCTGGGGTGGGGACAGAGGCTTGGCACCCCACCCAGCTCCTTGGCCCTCCACCCCAACCCTCATGGGTCACCTCGCCAACAGGGCTCATGGCTGGTGCTCCACTCAATGCTGTATTTAACCAACTAACCGTGGTGACAGGGCAAAAAGGCAACTAAAGACAATCATCTGTGTATCCCACCCCGTAATGCACACTTTGACAGTGTTCGTCACCGTGGACGTGAGCCCAAGCTGAGCTTCATTTTCTACTTTCTGTCCCCTCCTGTGGGCCGGAAGCCAGTGCCCATGGTGCCACCCCTAATGCGCACCTGCCACTCAAAACCAGTGCCCAGCCTGCCGGTCCATCCCCACCACAGGCAGGAAACACCTTTCCTTTTGTTATTCTCCTGTTACTTCTTTTAACACTAAAGACCTTTGTCAAATAGCCTTTTTTTCCTTTTGCAGATAAATCCGAAATTGAGATTCCCCAAATCAAAGAGAGTGACTGGCTGTGTGCAGCCCGACCACACCAGTAAAAAAATGCCACCAGCAATCAGAGCATCTATGCCCACAACCTTGACCACAATGAAGTTTTAAAGTTTTTGTGGGTTTTTTTTTTACACTTAACATTTTTTTTTTGGCCGGGCGCAGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGCGGCGTGCGCCTGTAGTCCCAGCTGCTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGCAAGCCGAGATCATGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACTCCGTCTCAAACAAACAAACAAAAAAAAATTTGTTAAACTAAGGTTATTCTTGTTACATGATATGGCGTATCAGAGCTGTTTTTACGTGTTAATTATTCTTTAATTATTAGTGAGGTGAAGATTTCCAAGTATGTGTCCCACACTCCGGGCTGCTTCTTGGAACCATCGCCCCAGAGCCCAGAAGGCTGAAG
Task1_train_28739
Given a variant located on Chromosome 22 and affecting MYH9 (myosin heavy chain 9), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Rare genetic deafness
GTTCGTCACCGTGGACGTGAGCCCAAGCTGAGCTTCATTTTCTACTTTCTGTCCCCTCCTGTGGGCCGGAAGCCAGTGCCCATGGTGCCACCCCTAATGCGCACCTGCCACTCAAAACCAGTGCCCAGCCTGCCGGTCCATCCCCACCACAGGCAGGAAACACCTTTCCTTTTGTTATTCTCCTGTTACTTCTTTTAACACTAAAGACCTTTGTCAAATAGCCTTTTTTTCCTTTTGCAGATAAATCCGAAATTGAGATTCCCCAAATCAAAGAGAGTGACTGGCTGTGTGCAGCCCGACCACACCAGTAAAAAAATGCCACCAGCAATCAGAGCATCTATGCCCACAACCTTGACCACAATGAAGTTTTAAAGTTTTTGTGGGTTTTTTTTTTACACTTAACATTTTTTTTTTGGCCGGGCGCAGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGCGGCGTGCGCCTGTAGTCCCAGCTGCTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGCAAGCCGAGATCATGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACTCCGTCTCAAACAAACAAACAAAAAAAAATTTGTTAAACTAAGGTTATTCTTGTTACATGATATGGCGTATCAGAGCTGTTTTTACGTGTTAATTATTCTTTAATTATTAGTGAGGTGAAGATTTCCAAGTATGTGTCCCACACTCCGGGCTGCTTCTTGGAACCATCGCCCCAGAGCCCAGAAGGCTGAAGGGTGTCAGGACCCGGGTGATTCTGGAAGTCTGCATTAAGTGAGACCTTCTTGAACTCCACCCATGTCTAGGCTTGTACTTGTTTGCTTCTGTGTTTTATGTACCCAGTCATACACCGTTTTGCAAGTTTGCTGTTGGACTATCATGTTTCCACTCACCTCTGAGCCTCTGAGTCTCTGTCAGTGAGATGGGGCTGGAAGCACCCAGGACCTTCCCAGGAGGTGCCACCCTGCCAGGTTCCCGCCCTGGGCCGAGCCCTGGCACCTTCATATGTAGTTGGCTCAGTCGGGTGCCGCCCACCCTCACCTGGGCCCCGCCCACCCTTACCTGCAGCTTCCGCAGCTGTTTGATGGCTTCGTCCCGGTTCTTGTTGGCCGAGTCGATGTGCGCCTCCAGGTCCTTCAGGTCCATCTCCAGCTTCTTCCGGGCGGCCACTGCCATCGAGCGCTGCTTCCTCTCGTCCTCCAGCTCTGCCTCCATCTCCCGCACCTGGGGGAAGGAACATCAACAACTTGGGAAGCTGGACCCACTGGGAGACCCTGCCCTAGCTCTGAACTCAGGAGCCTCAGGCCAGTTCTGCAGGATCCATGGGGCCTCGGGAAACCAGTGGGGATTACTGACCATAAGAACTCTAAGAAAGTGAGTCACTGAACCCCGAGACAGGAGGCTAGAAAGAAGGAATATGGGAGGGGAGGCGTGGTCAAGGGGCCCTAACACAATCCAGGTGGAAGGAGAGAACAGAAGCCTGCGTGAAGCCAAGGCAGCCTTGGGCACCCATGGGGTAGCAGGAGGCCATGCACACCTGTCTGACCAGCTGCTTCTTCTTCTCCTCGCTCTGCTCGTCCCGGCCCTGCAGGTCCCGCTCGAACTGGGCCTTCATGGCCTGCAGGTTGACCTCCAACCGCAGCTTGGCATCTTCGGTGGCCTGCAGCTCGTCCTCCAGCTCTTCCAGCTGCGTCTTCATCTCCTCCACCTGCTGCTCTAGGGCCCGCTTGGACTTCTCCAGCTCGTGGACCTGAGCCCCAGAGAGCCCAAGTCAGGAGCAAAGGGACTGGCAGGTACCTGGGTCTGCGCGACCCGGAGTCTGTGCACACACCGACCCTCTGTGATGACCCCACTCGGGCCCTTCCCAAGACCTGGCTGCCAGGCCCAGGACTCACACTCTTGCCCACATCATCCTTGGAGCTCATAAGGTCCTCCATCTCCGTGCGGAACTGCTTGTTGAGCCGCTCCAGCTCCGCCTTCTGCTCCATGGCTTCCTCCAGGGCCCGGGCCAGCGACAGAGCCTTGGTCTCCTTCTCTCGGGCCTCCGCCTCAGCCCGGTCGCGCTCCTCTGCATACTTGGCAGAGATGGTCTTCTCCTCCGCCAGGAGCTGGGAAAGAGGTGGGCACCATGAGGCTCAGAGCTACGGCCCCCAGCAGGGCAGGGCAGCTGGGCCTAAGCTCCCTGGGGAAGGAGGAGCCCAGAGGCCACGGTGGAGAGGAGCAGGCCTAGGAAGCACAGGCCCAGGGCTGTGCCCAGGACAATACACACAGTCCCGTGCATCCTCATGATGGGATGACTGCCGACTGGAGCAGGCACTACTGCGAACACCATGTTGTAACGTCTGTTTAATTTTCATCACTTACTAATCGCAACCCTTTATGGCACGCTGCCCCTTCCATGAGAGCCCTCCAAACCTGTAAGAGCTTTGGTTCTCCTGAACCACAGCTGGCATTTGGTTGGCACTTTTCACGAAGTGAATGCCAAGCTGGCTGCCAAGAAGCCTGAACCCCATTTGTGGTCTTCTCTAATGACAGCTGCTGTCCCCTGGCATCTGTTCTCTGTGTGCACCCACCTGGCTCTATCCTATTTCCCCACCTTCCCTTCCTTTTGGCCCAAACCTTAATTATCCCATGGGTTGCTGACCATTTCCTAAAGGGCCAGATAGTGCATTCTTTAGAGTATGCAGGCCCTACAGTCTCTGCAGCAATGGCTCAACCCCACTACCACAGCACAAAGCAACCAGAGACAACATGAGAACCATGGAGCGTGGCTGTGTTCAGTCTATCGTTCCCTACAAAATGCAGGGGCCGGATCCGGCTACCACAGTTGGCTGCCCGATGTCTTCTACTGTTCTATCCTGCCCCCGAGTCCACATCCCCCTCAGCTGCTCTCAGATCTTTTGGAATAAGGAAGTGATATGAATGCATAAATAAATCGTTTAAAAGACAGTCAAACCGCAGGAGTTTGAGACCAGCCTGGGCGATATGGTGAGATCCCTGTCACTATGAAAAACATCTAAAAATTAGCTGGGTGTGGTGGTGGTGCACGCCTGTGGTCCCAGCCACTCAGGAAGCTGATGTGGGAGGATCACTTGAGCTGTGGTTGCACCACGGCACCCCAGCCTGGGCAACAGACAGAGACAGTCTCCAAAAAAAAAAAAAAAAAAAACCCAAACTATTTTAAAAAAACCCAAACTATAATTAAATAATTATAATAATGTAATGATATAATGATAATTAAAGTGATTTTAACTCAGTGCTCAATGGAGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTTGCTACAGCCTCCACCTCCCAGCCGCCTGCCTTGGCCTCCCAAAATGCCAAGATTGCAGCCTCTTCCCGGCCGCCACCCCATCTGGGAAGTGAGGAGCGTCTCTGCCTGGCCGCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAGGTGAGGGGTGTCTCTGCCCGGCCGCCATCCCATCTAGGAGGTGAGGAGCGCCTCTTCCCGGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCCGCCCCGTCTGGGATGTGAGGAGTGCCTCTGCCCAGTGGCGACCCCGTCTGGGAGGTGAGGAGCATCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCTGCCTGGCAACCGCCCCGTCTGAGAGGTGAGGAGCCCCTCCGCCCTGCAGCCGCCCCGTCTGAGAGGTGAGGAGCCCCTCCGCCCGGCGGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGTTAGTGAGGAG
GTTCGTCACCGTGGACGTGAGCCCAAGCTGAGCTTCATTTTCTACTTTCTGTCCCCTCCTGTGGGCCGGAAGCCAGTGCCCATGGTGCCACCCCTAATGCGCACCTGCCACTCAAAACCAGTGCCCAGCCTGCCGGTCCATCCCCACCACAGGCAGGAAACACCTTTCCTTTTGTTATTCTCCTGTTACTTCTTTTAACACTAAAGACCTTTGTCAAATAGCCTTTTTTTCCTTTTGCAGATAAATCCGAAATTGAGATTCCCCAAATCAAAGAGAGTGACTGGCTGTGTGCAGCCCGACCACACCAGTAAAAAAATGCCACCAGCAATCAGAGCATCTATGCCCACAACCTTGACCACAATGAAGTTTTAAAGTTTTTGTGGGTTTTTTTTTTACACTTAACATTTTTTTTTTGGCCGGGCGCAGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGCGGCGTGCGCCTGTAGTCCCAGCTGCTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGCAAGCCGAGATCATGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACTCCGTCTCAAACAAACAAACAAAAAAAAATTTGTTAAACTAAGGTTATTCTTGTTACATGATATGGCGTATCAGAGCTGTTTTTACGTGTTAATTATTCTTTAATTATTAGTGAGGTGAAGATTTCCAAGTATGTGTCCCACACTCCGGGCTGCTTCTTGGAACCATCGCCCCAGAGCCCAGAAGGCTGAAGGGTGTCAGGACCCGGGTGATTCTGGAAGTCTGCATTAAGTGAGACCTTCTTGAACTCCACCCATGTCTAGGCTTGTACTTGTTTGCTTCTGTGTTTTATGTACCCAGTCATACACCGTTTTGCAAGTTTGCTGTTGGACTATCATGTTTCCACTCACCTCTGAGCCTCTGAGTCTCTGTCAGTGAGATGGGGCTGGAAGCACCCAGGACCTTCCCAGGAGGTGCCACCCTGCCAGGTTCCCGCCCTGGGCCGAGCCCTGGCACCTTCATATGTAGTTGGCTCAGTCGGGTGCCGCCCACCCTCACCTGGGCCCCGCCCACCCTTACCTGCAGCTTCCGCAGCTGTTTGATGGCTTCGTCCCGGTTCTTGTTGGCCGAGTCGATGTGCGCCTCCAGGTCCTTCAGGTCCATCTCCAGCTTCTTCCGGGCGGCCACTGCCATCGAGCGCTGCTTCCTCTCGTCCTCCAGCTCTGCCTCCATCTCCCGCACCTGGGGGAAGGAACATCAACAACTTGGGAAGCTGGACCCACTGGGAGACCCTGCCCTAGCTCTGAACTCAGGAGCCTCAGGCCAGTTCTGCAGGATCCATGGGGCCTCGGGAAACCAGTGGGGATTACTGACCATAAGAACTCTAAGAAAGTGAGTCACTGAACCCCGAGACAGGAGGCTAGAAAGAAGGAATATGGGAGGGGAGGCGTGGTCAAGGGGCCCTAACACAATCCAGGTGGAAGGAGAGAACAGAAGCCTGCGTGAAGCCAAGGCAGCCTTGGGCACCCATGGGGTAGCAGGAGGCCATGCACACCTGTCTGACCAGCTGCTTCTTCTTCTCCTCGCTCTGCTCGTCCCGGCCCTGCAGGTCCCGCTCGAACTGGGCCTTCATGGCCTGCAGGTTGACCTCCAACCGCAGCTTGGCATCTTCGGTGGCCTGCAGCTCGTCCTCCAGCTCTTCCAGCTGCGTCTTCATCTCCTCCACCTGCTGCTCTAGGGCCCGCTTGGACTTCTCCAGCTCGTGGACCTGAGCCCCAGAGAGCCCAAGTCAGGAGCAAAGGGACTGGCAGGTACCTGGGTCTGCGCGACCCGGAGTCTGTGCACACACCGACCCTCTGTGATGACCCCACTCGGGCCCTTCCCAAGACCTGGCTGCCAGGCCCAGGACTCACACTCTTGCCCAAATCATCCTTGGAGCTCATAAGGTCCTCCATCTCCGTGCGGAACTGCTTGTTGAGCCGCTCCAGCTCCGCCTTCTGCTCCATGGCTTCCTCCAGGGCCCGGGCCAGCGACAGAGCCTTGGTCTCCTTCTCTCGGGCCTCCGCCTCAGCCCGGTCGCGCTCCTCTGCATACTTGGCAGAGATGGTCTTCTCCTCCGCCAGGAGCTGGGAAAGAGGTGGGCACCATGAGGCTCAGAGCTACGGCCCCCAGCAGGGCAGGGCAGCTGGGCCTAAGCTCCCTGGGGAAGGAGGAGCCCAGAGGCCACGGTGGAGAGGAGCAGGCCTAGGAAGCACAGGCCCAGGGCTGTGCCCAGGACAATACACACAGTCCCGTGCATCCTCATGATGGGATGACTGCCGACTGGAGCAGGCACTACTGCGAACACCATGTTGTAACGTCTGTTTAATTTTCATCACTTACTAATCGCAACCCTTTATGGCACGCTGCCCCTTCCATGAGAGCCCTCCAAACCTGTAAGAGCTTTGGTTCTCCTGAACCACAGCTGGCATTTGGTTGGCACTTTTCACGAAGTGAATGCCAAGCTGGCTGCCAAGAAGCCTGAACCCCATTTGTGGTCTTCTCTAATGACAGCTGCTGTCCCCTGGCATCTGTTCTCTGTGTGCACCCACCTGGCTCTATCCTATTTCCCCACCTTCCCTTCCTTTTGGCCCAAACCTTAATTATCCCATGGGTTGCTGACCATTTCCTAAAGGGCCAGATAGTGCATTCTTTAGAGTATGCAGGCCCTACAGTCTCTGCAGCAATGGCTCAACCCCACTACCACAGCACAAAGCAACCAGAGACAACATGAGAACCATGGAGCGTGGCTGTGTTCAGTCTATCGTTCCCTACAAAATGCAGGGGCCGGATCCGGCTACCACAGTTGGCTGCCCGATGTCTTCTACTGTTCTATCCTGCCCCCGAGTCCACATCCCCCTCAGCTGCTCTCAGATCTTTTGGAATAAGGAAGTGATATGAATGCATAAATAAATCGTTTAAAAGACAGTCAAACCGCAGGAGTTTGAGACCAGCCTGGGCGATATGGTGAGATCCCTGTCACTATGAAAAACATCTAAAAATTAGCTGGGTGTGGTGGTGGTGCACGCCTGTGGTCCCAGCCACTCAGGAAGCTGATGTGGGAGGATCACTTGAGCTGTGGTTGCACCACGGCACCCCAGCCTGGGCAACAGACAGAGACAGTCTCCAAAAAAAAAAAAAAAAAAAACCCAAACTATTTTAAAAAAACCCAAACTATAATTAAATAATTATAATAATGTAATGATATAATGATAATTAAAGTGATTTTAACTCAGTGCTCAATGGAGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTTGCTACAGCCTCCACCTCCCAGCCGCCTGCCTTGGCCTCCCAAAATGCCAAGATTGCAGCCTCTTCCCGGCCGCCACCCCATCTGGGAAGTGAGGAGCGTCTCTGCCTGGCCGCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAGGTGAGGGGTGTCTCTGCCCGGCCGCCATCCCATCTAGGAGGTGAGGAGCGCCTCTTCCCGGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCCGCCCCGTCTGGGATGTGAGGAGTGCCTCTGCCCAGTGGCGACCCCGTCTGGGAGGTGAGGAGCATCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCTGCCTGGCAACCGCCCCGTCTGAGAGGTGAGGAGCCCCTCCGCCCTGCAGCCGCCCCGTCTGAGAGGTGAGGAGCCCCTCCGCCCGGCGGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGTTAGTGAGGAG
Task1_train_28740
A variant was discovered on Chromosome 22, affecting MYH9 (myosin heavy chain 9). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
GTTCGTCACCGTGGACGTGAGCCCAAGCTGAGCTTCATTTTCTACTTTCTGTCCCCTCCTGTGGGCCGGAAGCCAGTGCCCATGGTGCCACCCCTAATGCGCACCTGCCACTCAAAACCAGTGCCCAGCCTGCCGGTCCATCCCCACCACAGGCAGGAAACACCTTTCCTTTTGTTATTCTCCTGTTACTTCTTTTAACACTAAAGACCTTTGTCAAATAGCCTTTTTTTCCTTTTGCAGATAAATCCGAAATTGAGATTCCCCAAATCAAAGAGAGTGACTGGCTGTGTGCAGCCCGACCACACCAGTAAAAAAATGCCACCAGCAATCAGAGCATCTATGCCCACAACCTTGACCACAATGAAGTTTTAAAGTTTTTGTGGGTTTTTTTTTTACACTTAACATTTTTTTTTTGGCCGGGCGCAGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGCGGCGTGCGCCTGTAGTCCCAGCTGCTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGCAAGCCGAGATCATGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACTCCGTCTCAAACAAACAAACAAAAAAAAATTTGTTAAACTAAGGTTATTCTTGTTACATGATATGGCGTATCAGAGCTGTTTTTACGTGTTAATTATTCTTTAATTATTAGTGAGGTGAAGATTTCCAAGTATGTGTCCCACACTCCGGGCTGCTTCTTGGAACCATCGCCCCAGAGCCCAGAAGGCTGAAGGGTGTCAGGACCCGGGTGATTCTGGAAGTCTGCATTAAGTGAGACCTTCTTGAACTCCACCCATGTCTAGGCTTGTACTTGTTTGCTTCTGTGTTTTATGTACCCAGTCATACACCGTTTTGCAAGTTTGCTGTTGGACTATCATGTTTCCACTCACCTCTGAGCCTCTGAGTCTCTGTCAGTGAGATGGGGCTGGAAGCACCCAGGACCTTCCCAGGAGGTGCCACCCTGCCAGGTTCCCGCCCTGGGCCGAGCCCTGGCACCTTCATATGTAGTTGGCTCAGTCGGGTGCCGCCCACCCTCACCTGGGCCCCGCCCACCCTTACCTGCAGCTTCCGCAGCTGTTTGATGGCTTCGTCCCGGTTCTTGTTGGCCGAGTCGATGTGCGCCTCCAGGTCCTTCAGGTCCATCTCCAGCTTCTTCCGGGCGGCCACTGCCATCGAGCGCTGCTTCCTCTCGTCCTCCAGCTCTGCCTCCATCTCCCGCACCTGGGGGAAGGAACATCAACAACTTGGGAAGCTGGACCCACTGGGAGACCCTGCCCTAGCTCTGAACTCAGGAGCCTCAGGCCAGTTCTGCAGGATCCATGGGGCCTCGGGAAACCAGTGGGGATTACTGACCATAAGAACTCTAAGAAAGTGAGTCACTGAACCCCGAGACAGGAGGCTAGAAAGAAGGAATATGGGAGGGGAGGCGTGGTCAAGGGGCCCTAACACAATCCAGGTGGAAGGAGAGAACAGAAGCCTGCGTGAAGCCAAGGCAGCCTTGGGCACCCATGGGGTAGCAGGAGGCCATGCACACCTGTCTGACCAGCTGCTTCTTCTTCTCCTCGCTCTGCTCGTCCCGGCCCTGCAGGTCCCGCTCGAACTGGGCCTTCATGGCCTGCAGGTTGACCTCCAACCGCAGCTTGGCATCTTCGGTGGCCTGCAGCTCGTCCTCCAGCTCTTCCAGCTGCGTCTTCATCTCCTCCACCTGCTGCTCTAGGGCCCGCTTGGACTTCTCCAGCTCGTGGACCTGAGCCCCAGAGAGCCCAAGTCAGGAGCAAAGGGACTGGCAGGTACCTGGGTCTGCGCGACCCGGAGTCTGTGCACACACCGACCCTCTGTGATGACCCCACTCGGGCCCTTCCCAAGACCTGGCTGCCAGGCCCAGGACTCACACTCTTGCCCACATCATCCTTGGAGCTCATAAGGTCCTCCATCTCCGTGCGGAACTGCTTGTTGAGCCGCTCCAGCTCCGCCTTCTGCTCCATGGCTTCCTCCAGGGCCCGGGCCAGCGACAGAGCCTTGGTCTCCTTCTCTCGGGCCTCCGCCTCAGCCCGGTCGCGCTCCTCTGCATACTTGGCAGAGATGGTCTTCTCCTCCGCCAGGAGCTGGGAAAGAGGTGGGCACCATGAGGCTCAGAGCTACGGCCCCCAGCAGGGCAGGGCAGCTGGGCCTAAGCTCCCTGGGGAAGGAGGAGCCCAGAGGCCACGGTGGAGAGGAGCAGGCCTAGGAAGCACAGGCCCAGGGCTGTGCCCAGGACAATACACACAGTCCCGTGCATCCTCATGATGGGATGACTGCCGACTGGAGCAGGCACTACTGCGAACACCATGTTGTAACGTCTGTTTAATTTTCATCACTTACTAATCGCAACCCTTTATGGCACGCTGCCCCTTCCATGAGAGCCCTCCAAACCTGTAAGAGCTTTGGTTCTCCTGAACCACAGCTGGCATTTGGTTGGCACTTTTCACGAAGTGAATGCCAAGCTGGCTGCCAAGAAGCCTGAACCCCATTTGTGGTCTTCTCTAATGACAGCTGCTGTCCCCTGGCATCTGTTCTCTGTGTGCACCCACCTGGCTCTATCCTATTTCCCCACCTTCCCTTCCTTTTGGCCCAAACCTTAATTATCCCATGGGTTGCTGACCATTTCCTAAAGGGCCAGATAGTGCATTCTTTAGAGTATGCAGGCCCTACAGTCTCTGCAGCAATGGCTCAACCCCACTACCACAGCACAAAGCAACCAGAGACAACATGAGAACCATGGAGCGTGGCTGTGTTCAGTCTATCGTTCCCTACAAAATGCAGGGGCCGGATCCGGCTACCACAGTTGGCTGCCCGATGTCTTCTACTGTTCTATCCTGCCCCCGAGTCCACATCCCCCTCAGCTGCTCTCAGATCTTTTGGAATAAGGAAGTGATATGAATGCATAAATAAATCGTTTAAAAGACAGTCAAACCGCAGGAGTTTGAGACCAGCCTGGGCGATATGGTGAGATCCCTGTCACTATGAAAAACATCTAAAAATTAGCTGGGTGTGGTGGTGGTGCACGCCTGTGGTCCCAGCCACTCAGGAAGCTGATGTGGGAGGATCACTTGAGCTGTGGTTGCACCACGGCACCCCAGCCTGGGCAACAGACAGAGACAGTCTCCAAAAAAAAAAAAAAAAAAAACCCAAACTATTTTAAAAAAACCCAAACTATAATTAAATAATTATAATAATGTAATGATATAATGATAATTAAAGTGATTTTAACTCAGTGCTCAATGGAGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTTGCTACAGCCTCCACCTCCCAGCCGCCTGCCTTGGCCTCCCAAAATGCCAAGATTGCAGCCTCTTCCCGGCCGCCACCCCATCTGGGAAGTGAGGAGCGTCTCTGCCTGGCCGCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAGGTGAGGGGTGTCTCTGCCCGGCCGCCATCCCATCTAGGAGGTGAGGAGCGCCTCTTCCCGGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCCGCCCCGTCTGGGATGTGAGGAGTGCCTCTGCCCAGTGGCGACCCCGTCTGGGAGGTGAGGAGCATCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCTGCCTGGCAACCGCCCCGTCTGAGAGGTGAGGAGCCCCTCCGCCCTGCAGCCGCCCCGTCTGAGAGGTGAGGAGCCCCTCCGCCCGGCGGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGTTAGTGAGGAG
GTTCGTCACCGTGGACGTGAGCCCAAGCTGAGCTTCATTTTCTACTTTCTGTCCCCTCCTGTGGGCCGGAAGCCAGTGCCCATGGTGCCACCCCTAATGCGCACCTGCCACTCAAAACCAGTGCCCAGCCTGCCGGTCCATCCCCACCACAGGCAGGAAACACCTTTCCTTTTGTTATTCTCCTGTTACTTCTTTTAACACTAAAGACCTTTGTCAAATAGCCTTTTTTTCCTTTTGCAGATAAATCCGAAATTGAGATTCCCCAAATCAAAGAGAGTGACTGGCTGTGTGCAGCCCGACCACACCAGTAAAAAAATGCCACCAGCAATCAGAGCATCTATGCCCACAACCTTGACCACAATGAAGTTTTAAAGTTTTTGTGGGTTTTTTTTTTACACTTAACATTTTTTTTTTGGCCGGGCGCAGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGCGGCGTGCGCCTGTAGTCCCAGCTGCTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGCAAGCCGAGATCATGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACTCCGTCTCAAACAAACAAACAAAAAAAAATTTGTTAAACTAAGGTTATTCTTGTTACATGATATGGCGTATCAGAGCTGTTTTTACGTGTTAATTATTCTTTAATTATTAGTGAGGTGAAGATTTCCAAGTATGTGTCCCACACTCCGGGCTGCTTCTTGGAACCATCGCCCCAGAGCCCAGAAGGCTGAAGGGTGTCAGGACCCGGGTGATTCTGGAAGTCTGCATTAAGTGAGACCTTCTTGAACTCCACCCATGTCTAGGCTTGTACTTGTTTGCTTCTGTGTTTTATGTACCCAGTCATACACCGTTTTGCAAGTTTGCTGTTGGACTATCATGTTTCCACTCACCTCTGAGCCTCTGAGTCTCTGTCAGTGAGATGGGGCTGGAAGCACCCAGGACCTTCCCAGGAGGTGCCACCCTGCCAGGTTCCCGCCCTGGGCCGAGCCCTGGCACCTTCATATGTAGTTGGCTCAGTCGGGTGCCGCCCACCCTCACCTGGGCCCCGCCCACCCTTACCTGCAGCTTCCGCAGCTGTTTGATGGCTTCGTCCCGGTTCTTGTTGGCCGAGTCGATGTGCGCCTCCAGGTCCTTCAGGTCCATCTCCAGCTTCTTCCGGGCGGCCACTGCCATCGAGCGCTGCTTCCTCTCGTCCTCCAGCTCTGCCTCCATCTCCCGCACCTGGGGGAAGGAACATCAACAACTTGGGAAGCTGGACCCACTGGGAGACCCTGCCCTAGCTCTGAACTCAGGAGCCTCAGGCCAGTTCTGCAGGATCCATGGGGCCTCGGGAAACCAGTGGGGATTACTGACCATAAGAACTCTAAGAAAGTGAGTCACTGAACCCCGAGACAGGAGGCTAGAAAGAAGGAATATGGGAGGGGAGGCGTGGTCAAGGGGCCCTAACACAATCCAGGTGGAAGGAGAGAACAGAAGCCTGCGTGAAGCCAAGGCAGCCTTGGGCACCCATGGGGTAGCAGGAGGCCATGCACACCTGTCTGACCAGCTGCTTCTTCTTCTCCTCGCTCTGCTCGTCCCGGCCCTGCAGGTCCCGCTCGAACTGGGCCTTCATGGCCTGCAGGTTGACCTCCAACCGCAGCTTGGCATCTTCGGTGGCCTGCAGCTCGTCCTCCAGCTCTTCCAGCTGCGTCTTCATCTCCTCCACCTGCTGCTCTAGGGCCCGCTTGGACTTCTCCAGCTCGTGGACCTGAGCCCCAGAGAGCCCAAGTCAGGAGCAAAGGGACTGGCAGGTACCTGGGTCTGCGCGACCCGGAGTCTGTGCACACACCGACCCTCTGTGATGACCCCACTCGGGCCCTTCCCAAGACCTGGCTGCCAGGCCCAGGACTCACACTCTTGCCCAAATCATCCTTGGAGCTCATAAGGTCCTCCATCTCCGTGCGGAACTGCTTGTTGAGCCGCTCCAGCTCCGCCTTCTGCTCCATGGCTTCCTCCAGGGCCCGGGCCAGCGACAGAGCCTTGGTCTCCTTCTCTCGGGCCTCCGCCTCAGCCCGGTCGCGCTCCTCTGCATACTTGGCAGAGATGGTCTTCTCCTCCGCCAGGAGCTGGGAAAGAGGTGGGCACCATGAGGCTCAGAGCTACGGCCCCCAGCAGGGCAGGGCAGCTGGGCCTAAGCTCCCTGGGGAAGGAGGAGCCCAGAGGCCACGGTGGAGAGGAGCAGGCCTAGGAAGCACAGGCCCAGGGCTGTGCCCAGGACAATACACACAGTCCCGTGCATCCTCATGATGGGATGACTGCCGACTGGAGCAGGCACTACTGCGAACACCATGTTGTAACGTCTGTTTAATTTTCATCACTTACTAATCGCAACCCTTTATGGCACGCTGCCCCTTCCATGAGAGCCCTCCAAACCTGTAAGAGCTTTGGTTCTCCTGAACCACAGCTGGCATTTGGTTGGCACTTTTCACGAAGTGAATGCCAAGCTGGCTGCCAAGAAGCCTGAACCCCATTTGTGGTCTTCTCTAATGACAGCTGCTGTCCCCTGGCATCTGTTCTCTGTGTGCACCCACCTGGCTCTATCCTATTTCCCCACCTTCCCTTCCTTTTGGCCCAAACCTTAATTATCCCATGGGTTGCTGACCATTTCCTAAAGGGCCAGATAGTGCATTCTTTAGAGTATGCAGGCCCTACAGTCTCTGCAGCAATGGCTCAACCCCACTACCACAGCACAAAGCAACCAGAGACAACATGAGAACCATGGAGCGTGGCTGTGTTCAGTCTATCGTTCCCTACAAAATGCAGGGGCCGGATCCGGCTACCACAGTTGGCTGCCCGATGTCTTCTACTGTTCTATCCTGCCCCCGAGTCCACATCCCCCTCAGCTGCTCTCAGATCTTTTGGAATAAGGAAGTGATATGAATGCATAAATAAATCGTTTAAAAGACAGTCAAACCGCAGGAGTTTGAGACCAGCCTGGGCGATATGGTGAGATCCCTGTCACTATGAAAAACATCTAAAAATTAGCTGGGTGTGGTGGTGGTGCACGCCTGTGGTCCCAGCCACTCAGGAAGCTGATGTGGGAGGATCACTTGAGCTGTGGTTGCACCACGGCACCCCAGCCTGGGCAACAGACAGAGACAGTCTCCAAAAAAAAAAAAAAAAAAAACCCAAACTATTTTAAAAAAACCCAAACTATAATTAAATAATTATAATAATGTAATGATATAATGATAATTAAAGTGATTTTAACTCAGTGCTCAATGGAGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTTGCTACAGCCTCCACCTCCCAGCCGCCTGCCTTGGCCTCCCAAAATGCCAAGATTGCAGCCTCTTCCCGGCCGCCACCCCATCTGGGAAGTGAGGAGCGTCTCTGCCTGGCCGCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAGGTGAGGGGTGTCTCTGCCCGGCCGCCATCCCATCTAGGAGGTGAGGAGCGCCTCTTCCCGGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCCGCCCCGTCTGGGATGTGAGGAGTGCCTCTGCCCAGTGGCGACCCCGTCTGGGAGGTGAGGAGCATCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCTGCCTGGCAACCGCCCCGTCTGAGAGGTGAGGAGCCCCTCCGCCCTGCAGCCGCCCCGTCTGAGAGGTGAGGAGCCCCTCCGCCCGGCGGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGTTAGTGAGGAG
Task1_train_28741
This gene mutation involves MYH9 (myosin heavy chain 9) on Chromosome 22. Is it associated with any clinical condition, or is it benign?
Pathogenic; Autosomal dominant nonsyndromic hearing loss 17
GTTCGTCACCGTGGACGTGAGCCCAAGCTGAGCTTCATTTTCTACTTTCTGTCCCCTCCTGTGGGCCGGAAGCCAGTGCCCATGGTGCCACCCCTAATGCGCACCTGCCACTCAAAACCAGTGCCCAGCCTGCCGGTCCATCCCCACCACAGGCAGGAAACACCTTTCCTTTTGTTATTCTCCTGTTACTTCTTTTAACACTAAAGACCTTTGTCAAATAGCCTTTTTTTCCTTTTGCAGATAAATCCGAAATTGAGATTCCCCAAATCAAAGAGAGTGACTGGCTGTGTGCAGCCCGACCACACCAGTAAAAAAATGCCACCAGCAATCAGAGCATCTATGCCCACAACCTTGACCACAATGAAGTTTTAAAGTTTTTGTGGGTTTTTTTTTTACACTTAACATTTTTTTTTTGGCCGGGCGCAGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGCGGCGTGCGCCTGTAGTCCCAGCTGCTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGCAAGCCGAGATCATGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACTCCGTCTCAAACAAACAAACAAAAAAAAATTTGTTAAACTAAGGTTATTCTTGTTACATGATATGGCGTATCAGAGCTGTTTTTACGTGTTAATTATTCTTTAATTATTAGTGAGGTGAAGATTTCCAAGTATGTGTCCCACACTCCGGGCTGCTTCTTGGAACCATCGCCCCAGAGCCCAGAAGGCTGAAGGGTGTCAGGACCCGGGTGATTCTGGAAGTCTGCATTAAGTGAGACCTTCTTGAACTCCACCCATGTCTAGGCTTGTACTTGTTTGCTTCTGTGTTTTATGTACCCAGTCATACACCGTTTTGCAAGTTTGCTGTTGGACTATCATGTTTCCACTCACCTCTGAGCCTCTGAGTCTCTGTCAGTGAGATGGGGCTGGAAGCACCCAGGACCTTCCCAGGAGGTGCCACCCTGCCAGGTTCCCGCCCTGGGCCGAGCCCTGGCACCTTCATATGTAGTTGGCTCAGTCGGGTGCCGCCCACCCTCACCTGGGCCCCGCCCACCCTTACCTGCAGCTTCCGCAGCTGTTTGATGGCTTCGTCCCGGTTCTTGTTGGCCGAGTCGATGTGCGCCTCCAGGTCCTTCAGGTCCATCTCCAGCTTCTTCCGGGCGGCCACTGCCATCGAGCGCTGCTTCCTCTCGTCCTCCAGCTCTGCCTCCATCTCCCGCACCTGGGGGAAGGAACATCAACAACTTGGGAAGCTGGACCCACTGGGAGACCCTGCCCTAGCTCTGAACTCAGGAGCCTCAGGCCAGTTCTGCAGGATCCATGGGGCCTCGGGAAACCAGTGGGGATTACTGACCATAAGAACTCTAAGAAAGTGAGTCACTGAACCCCGAGACAGGAGGCTAGAAAGAAGGAATATGGGAGGGGAGGCGTGGTCAAGGGGCCCTAACACAATCCAGGTGGAAGGAGAGAACAGAAGCCTGCGTGAAGCCAAGGCAGCCTTGGGCACCCATGGGGTAGCAGGAGGCCATGCACACCTGTCTGACCAGCTGCTTCTTCTTCTCCTCGCTCTGCTCGTCCCGGCCCTGCAGGTCCCGCTCGAACTGGGCCTTCATGGCCTGCAGGTTGACCTCCAACCGCAGCTTGGCATCTTCGGTGGCCTGCAGCTCGTCCTCCAGCTCTTCCAGCTGCGTCTTCATCTCCTCCACCTGCTGCTCTAGGGCCCGCTTGGACTTCTCCAGCTCGTGGACCTGAGCCCCAGAGAGCCCAAGTCAGGAGCAAAGGGACTGGCAGGTACCTGGGTCTGCGCGACCCGGAGTCTGTGCACACACCGACCCTCTGTGATGACCCCACTCGGGCCCTTCCCAAGACCTGGCTGCCAGGCCCAGGACTCACACTCTTGCCCACATCATCCTTGGAGCTCATAAGGTCCTCCATCTCCGTGCGGAACTGCTTGTTGAGCCGCTCCAGCTCCGCCTTCTGCTCCATGGCTTCCTCCAGGGCCCGGGCCAGCGACAGAGCCTTGGTCTCCTTCTCTCGGGCCTCCGCCTCAGCCCGGTCGCGCTCCTCTGCATACTTGGCAGAGATGGTCTTCTCCTCCGCCAGGAGCTGGGAAAGAGGTGGGCACCATGAGGCTCAGAGCTACGGCCCCCAGCAGGGCAGGGCAGCTGGGCCTAAGCTCCCTGGGGAAGGAGGAGCCCAGAGGCCACGGTGGAGAGGAGCAGGCCTAGGAAGCACAGGCCCAGGGCTGTGCCCAGGACAATACACACAGTCCCGTGCATCCTCATGATGGGATGACTGCCGACTGGAGCAGGCACTACTGCGAACACCATGTTGTAACGTCTGTTTAATTTTCATCACTTACTAATCGCAACCCTTTATGGCACGCTGCCCCTTCCATGAGAGCCCTCCAAACCTGTAAGAGCTTTGGTTCTCCTGAACCACAGCTGGCATTTGGTTGGCACTTTTCACGAAGTGAATGCCAAGCTGGCTGCCAAGAAGCCTGAACCCCATTTGTGGTCTTCTCTAATGACAGCTGCTGTCCCCTGGCATCTGTTCTCTGTGTGCACCCACCTGGCTCTATCCTATTTCCCCACCTTCCCTTCCTTTTGGCCCAAACCTTAATTATCCCATGGGTTGCTGACCATTTCCTAAAGGGCCAGATAGTGCATTCTTTAGAGTATGCAGGCCCTACAGTCTCTGCAGCAATGGCTCAACCCCACTACCACAGCACAAAGCAACCAGAGACAACATGAGAACCATGGAGCGTGGCTGTGTTCAGTCTATCGTTCCCTACAAAATGCAGGGGCCGGATCCGGCTACCACAGTTGGCTGCCCGATGTCTTCTACTGTTCTATCCTGCCCCCGAGTCCACATCCCCCTCAGCTGCTCTCAGATCTTTTGGAATAAGGAAGTGATATGAATGCATAAATAAATCGTTTAAAAGACAGTCAAACCGCAGGAGTTTGAGACCAGCCTGGGCGATATGGTGAGATCCCTGTCACTATGAAAAACATCTAAAAATTAGCTGGGTGTGGTGGTGGTGCACGCCTGTGGTCCCAGCCACTCAGGAAGCTGATGTGGGAGGATCACTTGAGCTGTGGTTGCACCACGGCACCCCAGCCTGGGCAACAGACAGAGACAGTCTCCAAAAAAAAAAAAAAAAAAAACCCAAACTATTTTAAAAAAACCCAAACTATAATTAAATAATTATAATAATGTAATGATATAATGATAATTAAAGTGATTTTAACTCAGTGCTCAATGGAGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTTGCTACAGCCTCCACCTCCCAGCCGCCTGCCTTGGCCTCCCAAAATGCCAAGATTGCAGCCTCTTCCCGGCCGCCACCCCATCTGGGAAGTGAGGAGCGTCTCTGCCTGGCCGCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAGGTGAGGGGTGTCTCTGCCCGGCCGCCATCCCATCTAGGAGGTGAGGAGCGCCTCTTCCCGGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCCGCCCCGTCTGGGATGTGAGGAGTGCCTCTGCCCAGTGGCGACCCCGTCTGGGAGGTGAGGAGCATCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCTGCCTGGCAACCGCCCCGTCTGAGAGGTGAGGAGCCCCTCCGCCCTGCAGCCGCCCCGTCTGAGAGGTGAGGAGCCCCTCCGCCCGGCGGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGTTAGTGAGGAG
GTTCGTCACCGTGGACGTGAGCCCAAGCTGAGCTTCATTTTCTACTTTCTGTCCCCTCCTGTGGGCCGGAAGCCAGTGCCCATGGTGCCACCCCTAATGCGCACCTGCCACTCAAAACCAGTGCCCAGCCTGCCGGTCCATCCCCACCACAGGCAGGAAACACCTTTCCTTTTGTTATTCTCCTGTTACTTCTTTTAACACTAAAGACCTTTGTCAAATAGCCTTTTTTTCCTTTTGCAGATAAATCCGAAATTGAGATTCCCCAAATCAAAGAGAGTGACTGGCTGTGTGCAGCCCGACCACACCAGTAAAAAAATGCCACCAGCAATCAGAGCATCTATGCCCACAACCTTGACCACAATGAAGTTTTAAAGTTTTTGTGGGTTTTTTTTTTACACTTAACATTTTTTTTTTGGCCGGGCGCAGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGCGGCGTGCGCCTGTAGTCCCAGCTGCTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGCAAGCCGAGATCATGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACTCCGTCTCAAACAAACAAACAAAAAAAAATTTGTTAAACTAAGGTTATTCTTGTTACATGATATGGCGTATCAGAGCTGTTTTTACGTGTTAATTATTCTTTAATTATTAGTGAGGTGAAGATTTCCAAGTATGTGTCCCACACTCCGGGCTGCTTCTTGGAACCATCGCCCCAGAGCCCAGAAGGCTGAAGGGTGTCAGGACCCGGGTGATTCTGGAAGTCTGCATTAAGTGAGACCTTCTTGAACTCCACCCATGTCTAGGCTTGTACTTGTTTGCTTCTGTGTTTTATGTACCCAGTCATACACCGTTTTGCAAGTTTGCTGTTGGACTATCATGTTTCCACTCACCTCTGAGCCTCTGAGTCTCTGTCAGTGAGATGGGGCTGGAAGCACCCAGGACCTTCCCAGGAGGTGCCACCCTGCCAGGTTCCCGCCCTGGGCCGAGCCCTGGCACCTTCATATGTAGTTGGCTCAGTCGGGTGCCGCCCACCCTCACCTGGGCCCCGCCCACCCTTACCTGCAGCTTCCGCAGCTGTTTGATGGCTTCGTCCCGGTTCTTGTTGGCCGAGTCGATGTGCGCCTCCAGGTCCTTCAGGTCCATCTCCAGCTTCTTCCGGGCGGCCACTGCCATCGAGCGCTGCTTCCTCTCGTCCTCCAGCTCTGCCTCCATCTCCCGCACCTGGGGGAAGGAACATCAACAACTTGGGAAGCTGGACCCACTGGGAGACCCTGCCCTAGCTCTGAACTCAGGAGCCTCAGGCCAGTTCTGCAGGATCCATGGGGCCTCGGGAAACCAGTGGGGATTACTGACCATAAGAACTCTAAGAAAGTGAGTCACTGAACCCCGAGACAGGAGGCTAGAAAGAAGGAATATGGGAGGGGAGGCGTGGTCAAGGGGCCCTAACACAATCCAGGTGGAAGGAGAGAACAGAAGCCTGCGTGAAGCCAAGGCAGCCTTGGGCACCCATGGGGTAGCAGGAGGCCATGCACACCTGTCTGACCAGCTGCTTCTTCTTCTCCTCGCTCTGCTCGTCCCGGCCCTGCAGGTCCCGCTCGAACTGGGCCTTCATGGCCTGCAGGTTGACCTCCAACCGCAGCTTGGCATCTTCGGTGGCCTGCAGCTCGTCCTCCAGCTCTTCCAGCTGCGTCTTCATCTCCTCCACCTGCTGCTCTAGGGCCCGCTTGGACTTCTCCAGCTCGTGGACCTGAGCCCCAGAGAGCCCAAGTCAGGAGCAAAGGGACTGGCAGGTACCTGGGTCTGCGCGACCCGGAGTCTGTGCACACACCGACCCTCTGTGATGACCCCACTCGGGCCCTTCCCAAGACCTGGCTGCCAGGCCCAGGACTCACACTCTTGCCCAAATCATCCTTGGAGCTCATAAGGTCCTCCATCTCCGTGCGGAACTGCTTGTTGAGCCGCTCCAGCTCCGCCTTCTGCTCCATGGCTTCCTCCAGGGCCCGGGCCAGCGACAGAGCCTTGGTCTCCTTCTCTCGGGCCTCCGCCTCAGCCCGGTCGCGCTCCTCTGCATACTTGGCAGAGATGGTCTTCTCCTCCGCCAGGAGCTGGGAAAGAGGTGGGCACCATGAGGCTCAGAGCTACGGCCCCCAGCAGGGCAGGGCAGCTGGGCCTAAGCTCCCTGGGGAAGGAGGAGCCCAGAGGCCACGGTGGAGAGGAGCAGGCCTAGGAAGCACAGGCCCAGGGCTGTGCCCAGGACAATACACACAGTCCCGTGCATCCTCATGATGGGATGACTGCCGACTGGAGCAGGCACTACTGCGAACACCATGTTGTAACGTCTGTTTAATTTTCATCACTTACTAATCGCAACCCTTTATGGCACGCTGCCCCTTCCATGAGAGCCCTCCAAACCTGTAAGAGCTTTGGTTCTCCTGAACCACAGCTGGCATTTGGTTGGCACTTTTCACGAAGTGAATGCCAAGCTGGCTGCCAAGAAGCCTGAACCCCATTTGTGGTCTTCTCTAATGACAGCTGCTGTCCCCTGGCATCTGTTCTCTGTGTGCACCCACCTGGCTCTATCCTATTTCCCCACCTTCCCTTCCTTTTGGCCCAAACCTTAATTATCCCATGGGTTGCTGACCATTTCCTAAAGGGCCAGATAGTGCATTCTTTAGAGTATGCAGGCCCTACAGTCTCTGCAGCAATGGCTCAACCCCACTACCACAGCACAAAGCAACCAGAGACAACATGAGAACCATGGAGCGTGGCTGTGTTCAGTCTATCGTTCCCTACAAAATGCAGGGGCCGGATCCGGCTACCACAGTTGGCTGCCCGATGTCTTCTACTGTTCTATCCTGCCCCCGAGTCCACATCCCCCTCAGCTGCTCTCAGATCTTTTGGAATAAGGAAGTGATATGAATGCATAAATAAATCGTTTAAAAGACAGTCAAACCGCAGGAGTTTGAGACCAGCCTGGGCGATATGGTGAGATCCCTGTCACTATGAAAAACATCTAAAAATTAGCTGGGTGTGGTGGTGGTGCACGCCTGTGGTCCCAGCCACTCAGGAAGCTGATGTGGGAGGATCACTTGAGCTGTGGTTGCACCACGGCACCCCAGCCTGGGCAACAGACAGAGACAGTCTCCAAAAAAAAAAAAAAAAAAAACCCAAACTATTTTAAAAAAACCCAAACTATAATTAAATAATTATAATAATGTAATGATATAATGATAATTAAAGTGATTTTAACTCAGTGCTCAATGGAGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTTGCTACAGCCTCCACCTCCCAGCCGCCTGCCTTGGCCTCCCAAAATGCCAAGATTGCAGCCTCTTCCCGGCCGCCACCCCATCTGGGAAGTGAGGAGCGTCTCTGCCTGGCCGCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAGGTGAGGGGTGTCTCTGCCCGGCCGCCATCCCATCTAGGAGGTGAGGAGCGCCTCTTCCCGGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCCGCCCCGTCTGGGATGTGAGGAGTGCCTCTGCCCAGTGGCGACCCCGTCTGGGAGGTGAGGAGCATCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCTGCCTGGCAACCGCCCCGTCTGAGAGGTGAGGAGCCCCTCCGCCCTGCAGCCGCCCCGTCTGAGAGGTGAGGAGCCCCTCCGCCCGGCGGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGTTAGTGAGGAG
Task1_train_28742
Here is a variant affecting MYH9 (myosin heavy chain 9) on Chromosome 22. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; MYH9-related disorder
CACAGTTGGCTGCCCGATGTCTTCTACTGTTCTATCCTGCCCCCGAGTCCACATCCCCCTCAGCTGCTCTCAGATCTTTTGGAATAAGGAAGTGATATGAATGCATAAATAAATCGTTTAAAAGACAGTCAAACCGCAGGAGTTTGAGACCAGCCTGGGCGATATGGTGAGATCCCTGTCACTATGAAAAACATCTAAAAATTAGCTGGGTGTGGTGGTGGTGCACGCCTGTGGTCCCAGCCACTCAGGAAGCTGATGTGGGAGGATCACTTGAGCTGTGGTTGCACCACGGCACCCCAGCCTGGGCAACAGACAGAGACAGTCTCCAAAAAAAAAAAAAAAAAAAACCCAAACTATTTTAAAAAAACCCAAACTATAATTAAATAATTATAATAATGTAATGATATAATGATAATTAAAGTGATTTTAACTCAGTGCTCAATGGAGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTTGCTACAGCCTCCACCTCCCAGCCGCCTGCCTTGGCCTCCCAAAATGCCAAGATTGCAGCCTCTTCCCGGCCGCCACCCCATCTGGGAAGTGAGGAGCGTCTCTGCCTGGCCGCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAGGTGAGGGGTGTCTCTGCCCGGCCGCCATCCCATCTAGGAGGTGAGGAGCGCCTCTTCCCGGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCCGCCCCGTCTGGGATGTGAGGAGTGCCTCTGCCCAGTGGCGACCCCGTCTGGGAGGTGAGGAGCATCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCTGCCTGGCAACCGCCCCGTCTGAGAGGTGAGGAGCCCCTCCGCCCTGCAGCCGCCCCGTCTGAGAGGTGAGGAGCCCCTCCGCCCGGCGGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGTTAGTGAGGAGCCCCTCTGCCAGGCCACCACCCCGTCTGGGAGGTGTACCCAACAGCTCATTGATAGCGGGCCATGATGACAATGGCGGTTTTGTGGAATAGAAAGGGGGGAAAGGTGGGGAAAAGATTGAGAAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAAGTATACATGGGAGACTTTTCATTTTGTTGTGTACAAGAAAAATTCTTCTGCCTTGGGATCTTGTTGATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCTTAAGAGTCATCACCACTCCCTAATCTCAAGTACCCAGGGACACAAACACTGCGGAAGGCCAAAGGGTCCTCTGCCTAGGAAAACCGGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGCGAGAAACACCCAAGAATGATCAATAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAAGACAGTCAAACCAGTTCATTAGAGAAAATCTGAAAAATGTAAAAAATCAGAAAGGAAAAGTCACTCCTCAACCCATCGCATGAAGACGCCCTCTTCCGCTGGCCTTCTCCCTGGGACCCTCAACAAGCCAGAGCCTGAGGGTCCTCTAAGCACTGGCCCCGCACGGCCCCTCCCCGGCGAGACCCTGAGGGAGCCCAGGCTTTCTCTGATGGGCCCTTTGCTTTGGACTCAGTGCTTGAAGGAGAGGAAATGCAAAGGATGGGGCCAACGGCCACACACCTGGTCAAACTTCTTCTGCTTCTTCTCCAGGTTGCACGCGCTCTGGCGCTGGTGGTCCAGGTCCACCAGCAGGTCGTCCAGCTCCTGCTGCAGCCGCGTCTTGGTCTTCTCCAGCTTGTCGTAGGCGGCCACCTTCTCCTCGTGCCGCTGGCTCAGGCCCTCCAGGTCCTTCTGGAGCTTCCTCTTCACCTCCTCAGCAGTTTCCAGGCACCCCACACTGTCCTCCATCTTCTTTTTCATGTCGGCCACCTGGGCAGGAGCAAGGAGTAAGCAGATGCCCGAGATGGCACCTGCTCAGGTGGCACACCCGTCCCTGGGGCAGCTGGGAGCCTGCCTGCCACACCGTGGAAGGGGCACCAGGGATCTGCCCAGTTATGAAACCGCCTCCCCCAGTCACTTCCCTCTCCACAGGGGCGAGACAAATGGAGCTTCTGCAAAGGGGCATCTGTCTACTGTGTGAAGCCCGGGGGAGGCTGACCCCCAGGCCCGCTGTGGGGGCTCCCAGCCCACATCCACACCAAGCCTCTTGCTCTACGGAGACTGCTCCCAGAGAGCAGGGCCAGTGCCCTGTAGGGTGTCCACGGGGTCCCCATCACCCAGCCCCATCCTTGCACTTGGAGATAAACCCACAATCAGGCACGCTCGCGGGCTACTCCTACCCTGACTGTGGAATGGACTCCCAGCCCATCCCGAGGTGGTTCAGGCCTTCTGGCCTGGCACATGGAGGCCCAAGATAGGATCTAGAGCAGGGGCTCTGAAACCATATTAGGCTACGGACCCCTTCGCAGTCTAGAGAGGCCAAGGGACTCCTTCTCATGACAATGTTGTAACAGGCATGAAATAAACATGGGATCAGCAGGGCAACCAGTACAGAAAAATGCAGTTGTCACACATTCTAAAAAACCATGGCTCAGGAAGCCACGTGCTGCTAGATAGCACATCAGATAACAAACAGCGCAGGCCTGGGACCCATGAGGCCAAGGAGCTCGGCCACAACCCTGACAGGGTAACTGGCCATTTCTACAGATGATGACGGCACAGGGACTGCCACCACCATGGCTTGCTGCCTACATCCATAATGGAAGCAATGCTGAATTTCAGCTAAAGACTGGTGAAAATAAAGGTGTAAAATAGTGAAAATAGTGGTGTCCCCCATCTAAGTCCACAGATCCCTGGATTCCTTTCCTTGAGAGCACTGATGTGGGAGAGCACGGTTGGCTTCCCAGGGGGAGAGCAGCAATGGGCCGGCCCAGCGGGCAGGGCTGTCCTGCAGTGCCCAGGCCAGTGCCCGGCCAGCAGCTCCCCAGCCTGCAGAGTCCGGCCGGTCCCCCAGGCCTCCAAACCTGGGCATGGAGGGTGGCGATCTGCTTCTCCAGGTTGTGCTTGGCCTCCTCCTCCTCCTCCAGCTGCTCCCGGAAGGAATTCTTCTCGTCCTCCACCTGCTTGAGCTTGGTGCTCAGGCTCAGCTTCTGCCGGTTCTCCTCCTGCAGCAGCTCCTACTCGCGGGTTGAGAGGGGTGCGGGTGCTTAGGAGGGTGGTGTCCAAAACCCAGGAACCCCACACCCTTGAGGAGAGGGAGGAGCTGGTCCTGCTGATTTAGGGGATGGCCACGTAAAGACCTGGAGGGAGCTGGGAGGACGCAGAGACCCACCCACAGGATGAAGCAGATGAAGGAGAGGATGGGCAATCCGATGGGCTCTGAAGCTAATGTTGCGTGGACACAGAGGCCTTTCTGGAGGGGTCCACCTTCTGGGAACCTGGCGCCACCCCTACCTGAGTGTCCTGCAGCTGGGACTCCAGCGCGGAGAAGTCCTTGGTGAGCTTGCTGGACTTGCTGTCGGACTGGCTGAGAAGCCCGGTCACGTTGTCCAGCTCCACCTGCACCGGGCGGGGAGACACAAAGGACCATGGACCCACCCCCACTGCTCCTGCCCCACCTCATCTCCTTTAGGTAAAGCTGGACCTGAGTCACAAGCTGAACCATGAGGGTCTGAGGAGCCAGTTTGAGAAGAGAGAGAGACAGAGAGCACACATGCACCTGGGGACCTGGGCCACAACTGCTGCTAGGGCCCACTGCCCGCGCCAGGGTCCTGGCGGAGGCCTCACCTGCAGCTTGGTGACC
CACAGTTGGCTGCCCGATGTCTTCTACTGTTCTATCCTGCCCCCGAGTCCACATCCCCCTCAGCTGCTCTCAGATCTTTTGGAATAAGGAAGTGATATGAATGCATAAATAAATCGTTTAAAAGACAGTCAAACCGCAGGAGTTTGAGACCAGCCTGGGCGATATGGTGAGATCCCTGTCACTATGAAAAACATCTAAAAATTAGCTGGGTGTGGTGGTGGTGCACGCCTGTGGTCCCAGCCACTCAGGAAGCTGATGTGGGAGGATCACTTGAGCTGTGGTTGCACCACGGCACCCCAGCCTGGGCAACAGACAGAGACAGTCTCCAAAAAAAAAAAAAAAAAAAACCCAAACTATTTTAAAAAAACCCAAACTATAATTAAATAATTATAATAATGTAATGATATAATGATAATTAAAGTGATTTTAACTCAGTGCTCAATGGAGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTTGCTACAGCCTCCACCTCCCAGCCGCCTGCCTTGGCCTCCCAAAATGCCAAGATTGCAGCCTCTTCCCGGCCGCCACCCCATCTGGGAAGTGAGGAGCGTCTCTGCCTGGCCGCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAGGTGAGGGGTGTCTCTGCCCGGCCGCCATCCCATCTAGGAGGTGAGGAGCGCCTCTTCCCGGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCCGCCCCGTCTGGGATGTGAGGAGTGCCTCTGCCCAGTGGCGACCCCGTCTGGGAGGTGAGGAGCATCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCTGCCTGGCAACCGCCCCGTCTGAGAGGTGAGGAGCCCCTCCGCCCTGCAGCCGCCCCGTCTGAGAGGTGAGGAGCCCCTCCGCCCGGCGGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGTTAGTGAGGAGCCCCTCTGCCAGGCCACCACCCCGTCTGGGAGGTGTACCCAACAGCTCATTGATAGCGGGCCATGATGACAATGGCGGTTTTGTGGAATAGAAAGGGGGGAAAGGTGGGGAAAAGATTGAGAAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAAGTATACATGGGAGACTTTTCATTTTGTTGTGTACAAGAAAAATTCTTCTGCCTTGGGATCTTGTTGATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCTTAAGAGTCATCACCACTCCCTAATCTCAAGTACCCAGGGACACAAACACTGCGGAAGGCCAAAGGGTCCTCTGCCTAGGAAAACCGGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGCGAGAAACACCCAAGAATGATCAATAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAAGACAGTCAAACCAGTTCATTAGAGAAAATCTGAAAAATGTAAAAAATCAGAAAGGAAAAGTCACTCCTCAACCCATCGCATGAAGACGCCCTCTTCCGCTGGCCTTCTCCCTGGGACCCTCAACAAGCCAGAGCCTGAGGGTCCTCTAAGCACTGGCCCCGCACGGCCCCTCCCCGGCGAGACCCTGAGGGAGCCCAGGCTTTCTCTGATGGGCCCTTTGCTTTGGACTCAGTGCTTGAAGGAGAGGAAATGCAAAGGATGGGGCCAACGGCCACACACCTGGTCAAACTTCTTCTGCTTCTTCTCCAGGTTGCACGCGCTCTGGCGCTGGTGGTCCAGGTCCACCAGCAGGTAGTCCAGCTCCTGCTGCAGCCGCGTCTTGGTCTTCTCCAGCTTGTCGTAGGCGGCCACCTTCTCCTCGTGCCGCTGGCTCAGGCCCTCCAGGTCCTTCTGGAGCTTCCTCTTCACCTCCTCAGCAGTTTCCAGGCACCCCACACTGTCCTCCATCTTCTTTTTCATGTCGGCCACCTGGGCAGGAGCAAGGAGTAAGCAGATGCCCGAGATGGCACCTGCTCAGGTGGCACACCCGTCCCTGGGGCAGCTGGGAGCCTGCCTGCCACACCGTGGAAGGGGCACCAGGGATCTGCCCAGTTATGAAACCGCCTCCCCCAGTCACTTCCCTCTCCACAGGGGCGAGACAAATGGAGCTTCTGCAAAGGGGCATCTGTCTACTGTGTGAAGCCCGGGGGAGGCTGACCCCCAGGCCCGCTGTGGGGGCTCCCAGCCCACATCCACACCAAGCCTCTTGCTCTACGGAGACTGCTCCCAGAGAGCAGGGCCAGTGCCCTGTAGGGTGTCCACGGGGTCCCCATCACCCAGCCCCATCCTTGCACTTGGAGATAAACCCACAATCAGGCACGCTCGCGGGCTACTCCTACCCTGACTGTGGAATGGACTCCCAGCCCATCCCGAGGTGGTTCAGGCCTTCTGGCCTGGCACATGGAGGCCCAAGATAGGATCTAGAGCAGGGGCTCTGAAACCATATTAGGCTACGGACCCCTTCGCAGTCTAGAGAGGCCAAGGGACTCCTTCTCATGACAATGTTGTAACAGGCATGAAATAAACATGGGATCAGCAGGGCAACCAGTACAGAAAAATGCAGTTGTCACACATTCTAAAAAACCATGGCTCAGGAAGCCACGTGCTGCTAGATAGCACATCAGATAACAAACAGCGCAGGCCTGGGACCCATGAGGCCAAGGAGCTCGGCCACAACCCTGACAGGGTAACTGGCCATTTCTACAGATGATGACGGCACAGGGACTGCCACCACCATGGCTTGCTGCCTACATCCATAATGGAAGCAATGCTGAATTTCAGCTAAAGACTGGTGAAAATAAAGGTGTAAAATAGTGAAAATAGTGGTGTCCCCCATCTAAGTCCACAGATCCCTGGATTCCTTTCCTTGAGAGCACTGATGTGGGAGAGCACGGTTGGCTTCCCAGGGGGAGAGCAGCAATGGGCCGGCCCAGCGGGCAGGGCTGTCCTGCAGTGCCCAGGCCAGTGCCCGGCCAGCAGCTCCCCAGCCTGCAGAGTCCGGCCGGTCCCCCAGGCCTCCAAACCTGGGCATGGAGGGTGGCGATCTGCTTCTCCAGGTTGTGCTTGGCCTCCTCCTCCTCCTCCAGCTGCTCCCGGAAGGAATTCTTCTCGTCCTCCACCTGCTTGAGCTTGGTGCTCAGGCTCAGCTTCTGCCGGTTCTCCTCCTGCAGCAGCTCCTACTCGCGGGTTGAGAGGGGTGCGGGTGCTTAGGAGGGTGGTGTCCAAAACCCAGGAACCCCACACCCTTGAGGAGAGGGAGGAGCTGGTCCTGCTGATTTAGGGGATGGCCACGTAAAGACCTGGAGGGAGCTGGGAGGACGCAGAGACCCACCCACAGGATGAAGCAGATGAAGGAGAGGATGGGCAATCCGATGGGCTCTGAAGCTAATGTTGCGTGGACACAGAGGCCTTTCTGGAGGGGTCCACCTTCTGGGAACCTGGCGCCACCCCTACCTGAGTGTCCTGCAGCTGGGACTCCAGCGCGGAGAAGTCCTTGGTGAGCTTGCTGGACTTGCTGTCGGACTGGCTGAGAAGCCCGGTCACGTTGTCCAGCTCCACCTGCACCGGGCGGGGAGACACAAAGGACCATGGACCCACCCCCACTGCTCCTGCCCCACCTCATCTCCTTTAGGTAAAGCTGGACCTGAGTCACAAGCTGAACCATGAGGGTCTGAGGAGCCAGTTTGAGAAGAGAGAGAGACAGAGAGCACACATGCACCTGGGGACCTGGGCCACAACTGCTGCTAGGGCCCACTGCCCGCGCCAGGGTCCTGGCGGAGGCCTCACCTGCAGCTTGGTGACC
Task1_train_28743
A mutation found in MYH9 (myosin heavy chain 9) on Chromosome 22 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
CACAGTTGGCTGCCCGATGTCTTCTACTGTTCTATCCTGCCCCCGAGTCCACATCCCCCTCAGCTGCTCTCAGATCTTTTGGAATAAGGAAGTGATATGAATGCATAAATAAATCGTTTAAAAGACAGTCAAACCGCAGGAGTTTGAGACCAGCCTGGGCGATATGGTGAGATCCCTGTCACTATGAAAAACATCTAAAAATTAGCTGGGTGTGGTGGTGGTGCACGCCTGTGGTCCCAGCCACTCAGGAAGCTGATGTGGGAGGATCACTTGAGCTGTGGTTGCACCACGGCACCCCAGCCTGGGCAACAGACAGAGACAGTCTCCAAAAAAAAAAAAAAAAAAAACCCAAACTATTTTAAAAAAACCCAAACTATAATTAAATAATTATAATAATGTAATGATATAATGATAATTAAAGTGATTTTAACTCAGTGCTCAATGGAGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTTGCTACAGCCTCCACCTCCCAGCCGCCTGCCTTGGCCTCCCAAAATGCCAAGATTGCAGCCTCTTCCCGGCCGCCACCCCATCTGGGAAGTGAGGAGCGTCTCTGCCTGGCCGCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAGGTGAGGGGTGTCTCTGCCCGGCCGCCATCCCATCTAGGAGGTGAGGAGCGCCTCTTCCCGGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCCGCCCCGTCTGGGATGTGAGGAGTGCCTCTGCCCAGTGGCGACCCCGTCTGGGAGGTGAGGAGCATCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCTGCCTGGCAACCGCCCCGTCTGAGAGGTGAGGAGCCCCTCCGCCCTGCAGCCGCCCCGTCTGAGAGGTGAGGAGCCCCTCCGCCCGGCGGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGTTAGTGAGGAGCCCCTCTGCCAGGCCACCACCCCGTCTGGGAGGTGTACCCAACAGCTCATTGATAGCGGGCCATGATGACAATGGCGGTTTTGTGGAATAGAAAGGGGGGAAAGGTGGGGAAAAGATTGAGAAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAAGTATACATGGGAGACTTTTCATTTTGTTGTGTACAAGAAAAATTCTTCTGCCTTGGGATCTTGTTGATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCTTAAGAGTCATCACCACTCCCTAATCTCAAGTACCCAGGGACACAAACACTGCGGAAGGCCAAAGGGTCCTCTGCCTAGGAAAACCGGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGCGAGAAACACCCAAGAATGATCAATAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAAGACAGTCAAACCAGTTCATTAGAGAAAATCTGAAAAATGTAAAAAATCAGAAAGGAAAAGTCACTCCTCAACCCATCGCATGAAGACGCCCTCTTCCGCTGGCCTTCTCCCTGGGACCCTCAACAAGCCAGAGCCTGAGGGTCCTCTAAGCACTGGCCCCGCACGGCCCCTCCCCGGCGAGACCCTGAGGGAGCCCAGGCTTTCTCTGATGGGCCCTTTGCTTTGGACTCAGTGCTTGAAGGAGAGGAAATGCAAAGGATGGGGCCAACGGCCACACACCTGGTCAAACTTCTTCTGCTTCTTCTCCAGGTTGCACGCGCTCTGGCGCTGGTGGTCCAGGTCCACCAGCAGGTCGTCCAGCTCCTGCTGCAGCCGCGTCTTGGTCTTCTCCAGCTTGTCGTAGGCGGCCACCTTCTCCTCGTGCCGCTGGCTCAGGCCCTCCAGGTCCTTCTGGAGCTTCCTCTTCACCTCCTCAGCAGTTTCCAGGCACCCCACACTGTCCTCCATCTTCTTTTTCATGTCGGCCACCTGGGCAGGAGCAAGGAGTAAGCAGATGCCCGAGATGGCACCTGCTCAGGTGGCACACCCGTCCCTGGGGCAGCTGGGAGCCTGCCTGCCACACCGTGGAAGGGGCACCAGGGATCTGCCCAGTTATGAAACCGCCTCCCCCAGTCACTTCCCTCTCCACAGGGGCGAGACAAATGGAGCTTCTGCAAAGGGGCATCTGTCTACTGTGTGAAGCCCGGGGGAGGCTGACCCCCAGGCCCGCTGTGGGGGCTCCCAGCCCACATCCACACCAAGCCTCTTGCTCTACGGAGACTGCTCCCAGAGAGCAGGGCCAGTGCCCTGTAGGGTGTCCACGGGGTCCCCATCACCCAGCCCCATCCTTGCACTTGGAGATAAACCCACAATCAGGCACGCTCGCGGGCTACTCCTACCCTGACTGTGGAATGGACTCCCAGCCCATCCCGAGGTGGTTCAGGCCTTCTGGCCTGGCACATGGAGGCCCAAGATAGGATCTAGAGCAGGGGCTCTGAAACCATATTAGGCTACGGACCCCTTCGCAGTCTAGAGAGGCCAAGGGACTCCTTCTCATGACAATGTTGTAACAGGCATGAAATAAACATGGGATCAGCAGGGCAACCAGTACAGAAAAATGCAGTTGTCACACATTCTAAAAAACCATGGCTCAGGAAGCCACGTGCTGCTAGATAGCACATCAGATAACAAACAGCGCAGGCCTGGGACCCATGAGGCCAAGGAGCTCGGCCACAACCCTGACAGGGTAACTGGCCATTTCTACAGATGATGACGGCACAGGGACTGCCACCACCATGGCTTGCTGCCTACATCCATAATGGAAGCAATGCTGAATTTCAGCTAAAGACTGGTGAAAATAAAGGTGTAAAATAGTGAAAATAGTGGTGTCCCCCATCTAAGTCCACAGATCCCTGGATTCCTTTCCTTGAGAGCACTGATGTGGGAGAGCACGGTTGGCTTCCCAGGGGGAGAGCAGCAATGGGCCGGCCCAGCGGGCAGGGCTGTCCTGCAGTGCCCAGGCCAGTGCCCGGCCAGCAGCTCCCCAGCCTGCAGAGTCCGGCCGGTCCCCCAGGCCTCCAAACCTGGGCATGGAGGGTGGCGATCTGCTTCTCCAGGTTGTGCTTGGCCTCCTCCTCCTCCTCCAGCTGCTCCCGGAAGGAATTCTTCTCGTCCTCCACCTGCTTGAGCTTGGTGCTCAGGCTCAGCTTCTGCCGGTTCTCCTCCTGCAGCAGCTCCTACTCGCGGGTTGAGAGGGGTGCGGGTGCTTAGGAGGGTGGTGTCCAAAACCCAGGAACCCCACACCCTTGAGGAGAGGGAGGAGCTGGTCCTGCTGATTTAGGGGATGGCCACGTAAAGACCTGGAGGGAGCTGGGAGGACGCAGAGACCCACCCACAGGATGAAGCAGATGAAGGAGAGGATGGGCAATCCGATGGGCTCTGAAGCTAATGTTGCGTGGACACAGAGGCCTTTCTGGAGGGGTCCACCTTCTGGGAACCTGGCGCCACCCCTACCTGAGTGTCCTGCAGCTGGGACTCCAGCGCGGAGAAGTCCTTGGTGAGCTTGCTGGACTTGCTGTCGGACTGGCTGAGAAGCCCGGTCACGTTGTCCAGCTCCACCTGCACCGGGCGGGGAGACACAAAGGACCATGGACCCACCCCCACTGCTCCTGCCCCACCTCATCTCCTTTAGGTAAAGCTGGACCTGAGTCACAAGCTGAACCATGAGGGTCTGAGGAGCCAGTTTGAGAAGAGAGAGAGACAGAGAGCACACATGCACCTGGGGACCTGGGCCACAACTGCTGCTAGGGCCCACTGCCCGCGCCAGGGTCCTGGCGGAGGCCTCACCTGCAGCTTGGTGACC
CACAGTTGGCTGCCCGATGTCTTCTACTGTTCTATCCTGCCCCCGAGTCCACATCCCCCTCAGCTGCTCTCAGATCTTTTGGAATAAGGAAGTGATATGAATGCATAAATAAATCGTTTAAAAGACAGTCAAACCGCAGGAGTTTGAGACCAGCCTGGGCGATATGGTGAGATCCCTGTCACTATGAAAAACATCTAAAAATTAGCTGGGTGTGGTGGTGGTGCACGCCTGTGGTCCCAGCCACTCAGGAAGCTGATGTGGGAGGATCACTTGAGCTGTGGTTGCACCACGGCACCCCAGCCTGGGCAACAGACAGAGACAGTCTCCAAAAAAAAAAAAAAAAAAAACCCAAACTATTTTAAAAAAACCCAAACTATAATTAAATAATTATAATAATGTAATGATATAATGATAATTAAAGTGATTTTAACTCAGTGCTCAATGGAGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTTGCTACAGCCTCCACCTCCCAGCCGCCTGCCTTGGCCTCCCAAAATGCCAAGATTGCAGCCTCTTCCCGGCCGCCACCCCATCTGGGAAGTGAGGAGCGTCTCTGCCTGGCCGCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAGGTGAGGGGTGTCTCTGCCCGGCCGCCATCCCATCTAGGAGGTGAGGAGCGCCTCTTCCCGGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCCGCCCCGTCTGGGATGTGAGGAGTGCCTCTGCCCAGTGGCGACCCCGTCTGGGAGGTGAGGAGCATCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCTGCCTGGCAACCGCCCCGTCTGAGAGGTGAGGAGCCCCTCCGCCCTGCAGCCGCCCCGTCTGAGAGGTGAGGAGCCCCTCCGCCCGGCGGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGTTAGTGAGGAGCCCCTCTGCCAGGCCACCACCCCGTCTGGGAGGTGTACCCAACAGCTCATTGATAGCGGGCCATGATGACAATGGCGGTTTTGTGGAATAGAAAGGGGGGAAAGGTGGGGAAAAGATTGAGAAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAAGTATACATGGGAGACTTTTCATTTTGTTGTGTACAAGAAAAATTCTTCTGCCTTGGGATCTTGTTGATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCTTAAGAGTCATCACCACTCCCTAATCTCAAGTACCCAGGGACACAAACACTGCGGAAGGCCAAAGGGTCCTCTGCCTAGGAAAACCGGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGCGAGAAACACCCAAGAATGATCAATAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAAGACAGTCAAACCAGTTCATTAGAGAAAATCTGAAAAATGTAAAAAATCAGAAAGGAAAAGTCACTCCTCAACCCATCGCATGAAGACGCCCTCTTCCGCTGGCCTTCTCCCTGGGACCCTCAACAAGCCAGAGCCTGAGGGTCCTCTAAGCACTGGCCCCGCACGGCCCCTCCCCGGCGAGACCCTGAGGGAGCCCAGGCTTTCTCTGATGGGCCCTTTGCTTTGGACTCAGTGCTTGAAGGAGAGGAAATGCAAAGGATGGGGCCAACGGCCACACACCTGGTCAAACTTCTTCTGCTTCTTCTCCAGGTTGCACGCGCTCTGGCGCTGGTGGTCCAGGTCCACCAGCAGGTGGTCCAGCTCCTGCTGCAGCCGCGTCTTGGTCTTCTCCAGCTTGTCGTAGGCGGCCACCTTCTCCTCGTGCCGCTGGCTCAGGCCCTCCAGGTCCTTCTGGAGCTTCCTCTTCACCTCCTCAGCAGTTTCCAGGCACCCCACACTGTCCTCCATCTTCTTTTTCATGTCGGCCACCTGGGCAGGAGCAAGGAGTAAGCAGATGCCCGAGATGGCACCTGCTCAGGTGGCACACCCGTCCCTGGGGCAGCTGGGAGCCTGCCTGCCACACCGTGGAAGGGGCACCAGGGATCTGCCCAGTTATGAAACCGCCTCCCCCAGTCACTTCCCTCTCCACAGGGGCGAGACAAATGGAGCTTCTGCAAAGGGGCATCTGTCTACTGTGTGAAGCCCGGGGGAGGCTGACCCCCAGGCCCGCTGTGGGGGCTCCCAGCCCACATCCACACCAAGCCTCTTGCTCTACGGAGACTGCTCCCAGAGAGCAGGGCCAGTGCCCTGTAGGGTGTCCACGGGGTCCCCATCACCCAGCCCCATCCTTGCACTTGGAGATAAACCCACAATCAGGCACGCTCGCGGGCTACTCCTACCCTGACTGTGGAATGGACTCCCAGCCCATCCCGAGGTGGTTCAGGCCTTCTGGCCTGGCACATGGAGGCCCAAGATAGGATCTAGAGCAGGGGCTCTGAAACCATATTAGGCTACGGACCCCTTCGCAGTCTAGAGAGGCCAAGGGACTCCTTCTCATGACAATGTTGTAACAGGCATGAAATAAACATGGGATCAGCAGGGCAACCAGTACAGAAAAATGCAGTTGTCACACATTCTAAAAAACCATGGCTCAGGAAGCCACGTGCTGCTAGATAGCACATCAGATAACAAACAGCGCAGGCCTGGGACCCATGAGGCCAAGGAGCTCGGCCACAACCCTGACAGGGTAACTGGCCATTTCTACAGATGATGACGGCACAGGGACTGCCACCACCATGGCTTGCTGCCTACATCCATAATGGAAGCAATGCTGAATTTCAGCTAAAGACTGGTGAAAATAAAGGTGTAAAATAGTGAAAATAGTGGTGTCCCCCATCTAAGTCCACAGATCCCTGGATTCCTTTCCTTGAGAGCACTGATGTGGGAGAGCACGGTTGGCTTCCCAGGGGGAGAGCAGCAATGGGCCGGCCCAGCGGGCAGGGCTGTCCTGCAGTGCCCAGGCCAGTGCCCGGCCAGCAGCTCCCCAGCCTGCAGAGTCCGGCCGGTCCCCCAGGCCTCCAAACCTGGGCATGGAGGGTGGCGATCTGCTTCTCCAGGTTGTGCTTGGCCTCCTCCTCCTCCTCCAGCTGCTCCCGGAAGGAATTCTTCTCGTCCTCCACCTGCTTGAGCTTGGTGCTCAGGCTCAGCTTCTGCCGGTTCTCCTCCTGCAGCAGCTCCTACTCGCGGGTTGAGAGGGGTGCGGGTGCTTAGGAGGGTGGTGTCCAAAACCCAGGAACCCCACACCCTTGAGGAGAGGGAGGAGCTGGTCCTGCTGATTTAGGGGATGGCCACGTAAAGACCTGGAGGGAGCTGGGAGGACGCAGAGACCCACCCACAGGATGAAGCAGATGAAGGAGAGGATGGGCAATCCGATGGGCTCTGAAGCTAATGTTGCGTGGACACAGAGGCCTTTCTGGAGGGGTCCACCTTCTGGGAACCTGGCGCCACCCCTACCTGAGTGTCCTGCAGCTGGGACTCCAGCGCGGAGAAGTCCTTGGTGAGCTTGCTGGACTTGCTGTCGGACTGGCTGAGAAGCCCGGTCACGTTGTCCAGCTCCACCTGCACCGGGCGGGGAGACACAAAGGACCATGGACCCACCCCCACTGCTCCTGCCCCACCTCATCTCCTTTAGGTAAAGCTGGACCTGAGTCACAAGCTGAACCATGAGGGTCTGAGGAGCCAGTTTGAGAAGAGAGAGAGACAGAGAGCACACATGCACCTGGGGACCTGGGCCACAACTGCTGCTAGGGCCCACTGCCCGCGCCAGGGTCCTGGCGGAGGCCTCACCTGCAGCTTGGTGACC
Task1_train_28744
A mutation found in MYH9 (myosin heavy chain 9) on Chromosome 22 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Inborn genetic diseases
GCACAGGGACTGCCACCACCATGGCTTGCTGCCTACATCCATAATGGAAGCAATGCTGAATTTCAGCTAAAGACTGGTGAAAATAAAGGTGTAAAATAGTGAAAATAGTGGTGTCCCCCATCTAAGTCCACAGATCCCTGGATTCCTTTCCTTGAGAGCACTGATGTGGGAGAGCACGGTTGGCTTCCCAGGGGGAGAGCAGCAATGGGCCGGCCCAGCGGGCAGGGCTGTCCTGCAGTGCCCAGGCCAGTGCCCGGCCAGCAGCTCCCCAGCCTGCAGAGTCCGGCCGGTCCCCCAGGCCTCCAAACCTGGGCATGGAGGGTGGCGATCTGCTTCTCCAGGTTGTGCTTGGCCTCCTCCTCCTCCTCCAGCTGCTCCCGGAAGGAATTCTTCTCGTCCTCCACCTGCTTGAGCTTGGTGCTCAGGCTCAGCTTCTGCCGGTTCTCCTCCTGCAGCAGCTCCTACTCGCGGGTTGAGAGGGGTGCGGGTGCTTAGGAGGGTGGTGTCCAAAACCCAGGAACCCCACACCCTTGAGGAGAGGGAGGAGCTGGTCCTGCTGATTTAGGGGATGGCCACGTAAAGACCTGGAGGGAGCTGGGAGGACGCAGAGACCCACCCACAGGATGAAGCAGATGAAGGAGAGGATGGGCAATCCGATGGGCTCTGAAGCTAATGTTGCGTGGACACAGAGGCCTTTCTGGAGGGGTCCACCTTCTGGGAACCTGGCGCCACCCCTACCTGAGTGTCCTGCAGCTGGGACTCCAGCGCGGAGAAGTCCTTGGTGAGCTTGCTGGACTTGCTGTCGGACTGGCTGAGAAGCCCGGTCACGTTGTCCAGCTCCACCTGCACCGGGCGGGGAGACACAAAGGACCATGGACCCACCCCCACTGCTCCTGCCCCACCTCATCTCCTTTAGGTAAAGCTGGACCTGAGTCACAAGCTGAACCATGAGGGTCTGAGGAGCCAGTTTGAGAAGAGAGAGAGACAGAGAGCACACATGCACCTGGGGACCTGGGCCACAACTGCTGCTAGGGCCCACTGCCCGCGCCAGGGTCCTGGCGGAGGCCTCACCTGCAGCTTGGTGACCTTGTCGGCCAGCTCTGTGCGCACGCGCTCTCCCTCGTTGAACTTGACCTGCAGCTCCTGCAGCTGCGCCTCCACTTTCTTGCGCTTGTGCTCCGAGTCCCCTTTGCCCTGCAGCAGCACCTTCACCTCGTTGGCCAGCTCCCCCCGCTCGTTCTCCAGAGTCTGCTTTGCCTTCTCGAGGTTTGCTTTCACCTAGCAGGGAAGAAAGCAAAGACGTGAGTGGGGGCCTCCTGACACAAGGCTGGCTGGTCTATCATCACTGGACCCTAGATCCAGACATCGCTGCTTCTGCAGCCCTGACGACGGTGTGCCTGCGTCCTGGACTCAGACGGCTCGGGCCTCATCTGTCCTGTCCTCTTCTCTCTTAGCTGGTGGGTGACACTTGGTTCCTGTCTTCACTGCTTAGGACATCTCACAGCTTCCCCATCTCTAAAATAATACCTGCCCAGCCTTCTGCCCTGGGTAGAGGCCAGGTTCTAGGGCATGGCATTGGTGTTGCAGATGTTAGCAATATTTGTAACGCAATAAGGGGAACTATAATTGTTTGCAGTTAGACTTCCAATAAAGCCTGTCTGAAGTCTGATGTTCAAAGTAACGATGTAATGTTTTCACCCTCAAATAATCACGAGACAGACATACCATAATCCTCCCTTATGAACAGGGAAACTGAGGCACGAGTCACAAAGCCCCTTAGAAGGGGAGCCTGGCCTCAGAACCAGGCAGTTGGGTAGAACCCTGCAACTGCTCTGCAGGACTGGTTTGGATTCTGTGGGCCCAGCACGGGGAACCCTGCCCTCCCCCTGCGGTCTCAGGGAGGCTCCGCACCCGCTTCGTCTGCTCCAGCTGCTCCGCCAGCTCCTCCACGGCCTGTGAGTGCTTCTGCCTCATCTCCTGGATCTGGGCCTCGTGGGTCTTGGCCTCCTCCTCCAGGGTCTTCTTCAGGATGTTCACCTCCTGCTCACGTTTTGACCTGGACAGAGAAATCCCCTCAGAGTGGAGGCCGGGGATGCTGGAGCGAGGCTGTCCCTGGGGCTCTTCCCTGACCAAAGAGAGGCCTGGCCAGGGCACAGGCACTCCAGGCAGCTTTTCTACCCACCGGCCCCTCCTAGCCATCTATCCCATAGCCCAGGCTCAAATACGCCCTGTGAGAGCTTCTGTAGCCTTTCAGCTTTAAAGCCCAGCCTTGCCTCACCCCCAACTTTGAGCCAGGTCCTTCAACAGACTTTCTACTCTGTAGAGAGAAACCGCTGAGGAACCAGCAGCTTCCATGCCTGCTGGTGCCTAAGAGGGCCACGGTGTGTGTGTGTGTGTGTGTGCAGAGGCCCGGGGTCCATGTCTCCAAGCCAAGGCCCCCCTGGCTGCCCTCCCCATCCCGAGGGACTTGGTCCCAGGGCACACCTGAGCTCCTGCTGGGCAGCTGTGGAATCCAGCGTGTCCTCCAACTCTGTTTTCAGAGCCTCTAGCTCTTCCCCAAGGTCCCGTTTCTGCTTCTCAGCTTTATTCCTGGAAGCACGCTCAGACTCCAGGTCTTCCTGGAGTTCAGAGATCTGAGATTCCAGCTCCCGGATCTTCTTGAGGGCCATGTTCTTCTGGGCAGCTTCCTCTTCCACTCTGCCAAAGCGACCAGCAACATCAGTATAAGGAGAGTTTCACCTCCAAGGAGCAGAGTTTGCAGGACAGGCCTGAGAGAGCTGCAGCAGCCAAAGCTGCCTCCTGTGGTCACAATCATGGCACTTAGGATGGCTCTCAGCAGAAACAACATCTGAGACAACCAGATTGAAGGGCAACACCCCTCTGAGAAGCAGAAAACCTCATAGAGGAATCGTTTCAATTTCCAAAGTAAGATTCACTGCTTCAAATATTTTTAAAAGTCAAATGATGTGTTAAATGGGAAGAAAAGGAAATAAAACGCTACACCACAGGACAACTGCAACTCAGTAAAAATACGAATGTGCTACGGACTTTAGATGGTTATGACAGGTCAACGTAGGTTCACCAATTAGAACAGACACAGCACTGTGGTAGGGGATGTTGACTGCAGGGGAGGCGGTGCGTGAGTGGGGCAGTGGATAGATGGAGAATCTTCTGCTGACTCTTCTGTGAATCTAAAACTACTCTAAAAAATAAAGTCTCTTTCTTTTTTTTTTAAACAGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAATGGCACGATCTTGGCTGACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGTGAGATTACAGTCGTGTGCCACCACACTGGCGAATTTTTTATATTTTTGGTAGGGATGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGGCTTGGCCTCCCAAAGTGCTGGGATCACAGACGTGAGCCAACGTGCCTGGTCAAGTCTTTTTTTTTTTTTTTTTTTTTTTTAAGTGTGCCTATAGCAAGAAATTAGGAAAGGACTATTGTAGGTGGGTGATAGAGCTGTGGATGACTTTTTTTCAAATTATAAACAAACAAAAGACAAATGAGGCCCCTCACCATGCCCTGAGTGCACAAGAACTGTTTTGCTATGAAATAAATGGCTCTTTTAAGACAACAGTGGAAAGAATGCTCACAGCTCACTAGTGCCGAGAACTAGGGCCAGCAGCAAGCAGGAAGGGCTGGCCCAGGCCACCTGGCCTCAGGCGGGCAGGCGGGGTCCTCACCTGGCCAGGGCGGCCTGGAGCTCCTCCTCTTTCTTGGCCAGCTGCATCTTGAGCTCCGCGATCTGGGCCTGGAGCTCGGCGATCTGGTCGCTGAGGTCTGTGGAGTCTCCCTCCAGCTTCCGGCGGGTCTTCTCCAGCTCCTGTCGCTGCTTCTCCTCCCTGCGGAGGCGCTCTGCAATGCAGGGGGAGCCCACATAGCCCTCAGTGCCATGGGTTCTGTCTCCGTGTCAATTACTTATACAAAATACTGAGCACTCGTTATGAAACGTGTGTC
GCACAGGGACTGCCACCACCATGGCTTGCTGCCTACATCCATAATGGAAGCAATGCTGAATTTCAGCTAAAGACTGGTGAAAATAAAGGTGTAAAATAGTGAAAATAGTGGTGTCCCCCATCTAAGTCCACAGATCCCTGGATTCCTTTCCTTGAGAGCACTGATGTGGGAGAGCACGGTTGGCTTCCCAGGGGGAGAGCAGCAATGGGCCGGCCCAGCGGGCAGGGCTGTCCTGCAGTGCCCAGGCCAGTGCCCGGCCAGCAGCTCCCCAGCCTGCAGAGTCCGGCCGGTCCCCCAGGCCTCCAAACCTGGGCATGGAGGGTGGCGATCTGCTTCTCCAGGTTGTGCTTGGCCTCCTCCTCCTCCTCCAGCTGCTCCCGGAAGGAATTCTTCTCGTCCTCCACCTGCTTGAGCTTGGTGCTCAGGCTCAGCTTCTGCCGGTTCTCCTCCTGCAGCAGCTCCTACTCGCGGGTTGAGAGGGGTGCGGGTGCTTAGGAGGGTGGTGTCCAAAACCCAGGAACCCCACACCCTTGAGGAGAGGGAGGAGCTGGTCCTGCTGATTTAGGGGATGGCCACGTAAAGACCTGGAGGGAGCTGGGAGGACGCAGAGACCCACCCACAGGATGAAGCAGATGAAGGAGAGGATGGGCAATCCGATGGGCTCTGAAGCTAATGTTGCGTGGACACAGAGGCCTTTCTGGAGGGGTCCACCTTCTGGGAACCTGGCGCCACCCCTACCTGAGTGTCCTGCAGCTGGGACTCCAGCGCGGAGAAGTCCTTGGTGAGCTTGCTGGACTTGCTGTCGGACTGGCTGAGAAGCCCGGTCACGTTGTCCAGCTCCACCTGCACCGGGCGGGGAGACACAAAGGACCATGGACCCACCCCCACTGCTCCTGCCCCACCTCATCTCCTTTAGGTAAAGCTGGACCTGAGTCACAAGCTGAACCATGAGGGTCTGAGGAGCCAGTTTGAGAAGAGAGAGAGACAGAGAGCACACATGCACCTGGGGACCTGGGCCACAACTGCTGCTAGGGCCCACTGCCCGCGCCAGGGTCCTGGCGGAGGCCTCACCTGCAGCTTGGTGACCTTGTCGGCCAGCTCTGTGCGCACGCGCTCTCCCTCGTTGAACTTGACCTGCAGCTCCTGCAGCTGCGCCTCCACTTTCTTGCGCTTGTGCTCCGAGTCCCCTTTGCCCTGCAGCAGCACCTTCACCTCGTTGGCCAGCTCCCCCCGCTCGTTCTCCAGAGTCTGCTTTGCCTTCTCGAGGTTTGCTTTCACCTAGCAGGGAAGAAAGCAAAGACGTGAGTGGGGGCCTCCTGACACAAGGCTGGCTGGTCTATCATCACTGGACCCTAGATCCAGACATCGCTGCTTCTGCAGCCCTGACGACGGTGTGCCTGCGTCCTGGACTCAGACGGCTCGGGCCTCATCTGTCCTGTCCTCTTCTCTCTTAGCTGGTGGGTGACACTTGGTTCCTGTCTTCACTGCTTAGGACATCTCACAGCTTCCCCATCTCTAAAATAATACCTGCCCAGCCTTCTGCCCTGGGTAGAGGCCAGGTTCTAGGGCATGGCATTGGTGTTGCAGATGTTAGCAATATTTGTAACGCAATAAGGGGAACTATAATTGTTTGCAGTTAGACTTCCAATAAAGCCTGTCTGAAGTCTGATGTTCAAAGTAACGATGTAATGTTTTCACCCTCAAATAATCACGAGACAGACATACCATAATCCTCCCTTATGAACAGGGAAACTGAGGCACGAGTCACAAAGCCCCTTAGAAGGGGAGCCTGGCCTCAGAACCAGGCAGTTGGGTAGAACCCTGCAACTGCTCTGCAGGACTGGTTTGGATTCTGTGGGCCCAGCACGGGGAACCCTGCCCTCCCCCTGCGGTCTCAGGGAGGCTCCGCACCCGCTTCGTCTGCTCCAGCTGCTCCGCCAGCTCCTCCACGGCCTGTGAGTGCTTCTGCCTCATCTCCTGGATCTGGGCCTCGTGGGTCTTGGCCTCCTCCTCCAGGGTCTTCTTCAGGATGTTCACCTCCTGCTCACATTTTGACCTGGACAGAGAAATCCCCTCAGAGTGGAGGCCGGGGATGCTGGAGCGAGGCTGTCCCTGGGGCTCTTCCCTGACCAAAGAGAGGCCTGGCCAGGGCACAGGCACTCCAGGCAGCTTTTCTACCCACCGGCCCCTCCTAGCCATCTATCCCATAGCCCAGGCTCAAATACGCCCTGTGAGAGCTTCTGTAGCCTTTCAGCTTTAAAGCCCAGCCTTGCCTCACCCCCAACTTTGAGCCAGGTCCTTCAACAGACTTTCTACTCTGTAGAGAGAAACCGCTGAGGAACCAGCAGCTTCCATGCCTGCTGGTGCCTAAGAGGGCCACGGTGTGTGTGTGTGTGTGTGTGCAGAGGCCCGGGGTCCATGTCTCCAAGCCAAGGCCCCCCTGGCTGCCCTCCCCATCCCGAGGGACTTGGTCCCAGGGCACACCTGAGCTCCTGCTGGGCAGCTGTGGAATCCAGCGTGTCCTCCAACTCTGTTTTCAGAGCCTCTAGCTCTTCCCCAAGGTCCCGTTTCTGCTTCTCAGCTTTATTCCTGGAAGCACGCTCAGACTCCAGGTCTTCCTGGAGTTCAGAGATCTGAGATTCCAGCTCCCGGATCTTCTTGAGGGCCATGTTCTTCTGGGCAGCTTCCTCTTCCACTCTGCCAAAGCGACCAGCAACATCAGTATAAGGAGAGTTTCACCTCCAAGGAGCAGAGTTTGCAGGACAGGCCTGAGAGAGCTGCAGCAGCCAAAGCTGCCTCCTGTGGTCACAATCATGGCACTTAGGATGGCTCTCAGCAGAAACAACATCTGAGACAACCAGATTGAAGGGCAACACCCCTCTGAGAAGCAGAAAACCTCATAGAGGAATCGTTTCAATTTCCAAAGTAAGATTCACTGCTTCAAATATTTTTAAAAGTCAAATGATGTGTTAAATGGGAAGAAAAGGAAATAAAACGCTACACCACAGGACAACTGCAACTCAGTAAAAATACGAATGTGCTACGGACTTTAGATGGTTATGACAGGTCAACGTAGGTTCACCAATTAGAACAGACACAGCACTGTGGTAGGGGATGTTGACTGCAGGGGAGGCGGTGCGTGAGTGGGGCAGTGGATAGATGGAGAATCTTCTGCTGACTCTTCTGTGAATCTAAAACTACTCTAAAAAATAAAGTCTCTTTCTTTTTTTTTTAAACAGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAATGGCACGATCTTGGCTGACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGTGAGATTACAGTCGTGTGCCACCACACTGGCGAATTTTTTATATTTTTGGTAGGGATGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGGCTTGGCCTCCCAAAGTGCTGGGATCACAGACGTGAGCCAACGTGCCTGGTCAAGTCTTTTTTTTTTTTTTTTTTTTTTTTAAGTGTGCCTATAGCAAGAAATTAGGAAAGGACTATTGTAGGTGGGTGATAGAGCTGTGGATGACTTTTTTTCAAATTATAAACAAACAAAAGACAAATGAGGCCCCTCACCATGCCCTGAGTGCACAAGAACTGTTTTGCTATGAAATAAATGGCTCTTTTAAGACAACAGTGGAAAGAATGCTCACAGCTCACTAGTGCCGAGAACTAGGGCCAGCAGCAAGCAGGAAGGGCTGGCCCAGGCCACCTGGCCTCAGGCGGGCAGGCGGGGTCCTCACCTGGCCAGGGCGGCCTGGAGCTCCTCCTCTTTCTTGGCCAGCTGCATCTTGAGCTCCGCGATCTGGGCCTGGAGCTCGGCGATCTGGTCGCTGAGGTCTGTGGAGTCTCCCTCCAGCTTCCGGCGGGTCTTCTCCAGCTCCTGTCGCTGCTTCTCCTCCCTGCGGAGGCGCTCTGCAATGCAGGGGGAGCCCACATAGCCCTCAGTGCCATGGGTTCTGTCTCCGTGTCAATTACTTATACAAAATACTGAGCACTCGTTATGAAACGTGTGTC
Task1_train_28745
A variant on Chromosome 22 in gene MYH9 (myosin heavy chain 9) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
GCACAGGGACTGCCACCACCATGGCTTGCTGCCTACATCCATAATGGAAGCAATGCTGAATTTCAGCTAAAGACTGGTGAAAATAAAGGTGTAAAATAGTGAAAATAGTGGTGTCCCCCATCTAAGTCCACAGATCCCTGGATTCCTTTCCTTGAGAGCACTGATGTGGGAGAGCACGGTTGGCTTCCCAGGGGGAGAGCAGCAATGGGCCGGCCCAGCGGGCAGGGCTGTCCTGCAGTGCCCAGGCCAGTGCCCGGCCAGCAGCTCCCCAGCCTGCAGAGTCCGGCCGGTCCCCCAGGCCTCCAAACCTGGGCATGGAGGGTGGCGATCTGCTTCTCCAGGTTGTGCTTGGCCTCCTCCTCCTCCTCCAGCTGCTCCCGGAAGGAATTCTTCTCGTCCTCCACCTGCTTGAGCTTGGTGCTCAGGCTCAGCTTCTGCCGGTTCTCCTCCTGCAGCAGCTCCTACTCGCGGGTTGAGAGGGGTGCGGGTGCTTAGGAGGGTGGTGTCCAAAACCCAGGAACCCCACACCCTTGAGGAGAGGGAGGAGCTGGTCCTGCTGATTTAGGGGATGGCCACGTAAAGACCTGGAGGGAGCTGGGAGGACGCAGAGACCCACCCACAGGATGAAGCAGATGAAGGAGAGGATGGGCAATCCGATGGGCTCTGAAGCTAATGTTGCGTGGACACAGAGGCCTTTCTGGAGGGGTCCACCTTCTGGGAACCTGGCGCCACCCCTACCTGAGTGTCCTGCAGCTGGGACTCCAGCGCGGAGAAGTCCTTGGTGAGCTTGCTGGACTTGCTGTCGGACTGGCTGAGAAGCCCGGTCACGTTGTCCAGCTCCACCTGCACCGGGCGGGGAGACACAAAGGACCATGGACCCACCCCCACTGCTCCTGCCCCACCTCATCTCCTTTAGGTAAAGCTGGACCTGAGTCACAAGCTGAACCATGAGGGTCTGAGGAGCCAGTTTGAGAAGAGAGAGAGACAGAGAGCACACATGCACCTGGGGACCTGGGCCACAACTGCTGCTAGGGCCCACTGCCCGCGCCAGGGTCCTGGCGGAGGCCTCACCTGCAGCTTGGTGACCTTGTCGGCCAGCTCTGTGCGCACGCGCTCTCCCTCGTTGAACTTGACCTGCAGCTCCTGCAGCTGCGCCTCCACTTTCTTGCGCTTGTGCTCCGAGTCCCCTTTGCCCTGCAGCAGCACCTTCACCTCGTTGGCCAGCTCCCCCCGCTCGTTCTCCAGAGTCTGCTTTGCCTTCTCGAGGTTTGCTTTCACCTAGCAGGGAAGAAAGCAAAGACGTGAGTGGGGGCCTCCTGACACAAGGCTGGCTGGTCTATCATCACTGGACCCTAGATCCAGACATCGCTGCTTCTGCAGCCCTGACGACGGTGTGCCTGCGTCCTGGACTCAGACGGCTCGGGCCTCATCTGTCCTGTCCTCTTCTCTCTTAGCTGGTGGGTGACACTTGGTTCCTGTCTTCACTGCTTAGGACATCTCACAGCTTCCCCATCTCTAAAATAATACCTGCCCAGCCTTCTGCCCTGGGTAGAGGCCAGGTTCTAGGGCATGGCATTGGTGTTGCAGATGTTAGCAATATTTGTAACGCAATAAGGGGAACTATAATTGTTTGCAGTTAGACTTCCAATAAAGCCTGTCTGAAGTCTGATGTTCAAAGTAACGATGTAATGTTTTCACCCTCAAATAATCACGAGACAGACATACCATAATCCTCCCTTATGAACAGGGAAACTGAGGCACGAGTCACAAAGCCCCTTAGAAGGGGAGCCTGGCCTCAGAACCAGGCAGTTGGGTAGAACCCTGCAACTGCTCTGCAGGACTGGTTTGGATTCTGTGGGCCCAGCACGGGGAACCCTGCCCTCCCCCTGCGGTCTCAGGGAGGCTCCGCACCCGCTTCGTCTGCTCCAGCTGCTCCGCCAGCTCCTCCACGGCCTGTGAGTGCTTCTGCCTCATCTCCTGGATCTGGGCCTCGTGGGTCTTGGCCTCCTCCTCCAGGGTCTTCTTCAGGATGTTCACCTCCTGCTCACGTTTTGACCTGGACAGAGAAATCCCCTCAGAGTGGAGGCCGGGGATGCTGGAGCGAGGCTGTCCCTGGGGCTCTTCCCTGACCAAAGAGAGGCCTGGCCAGGGCACAGGCACTCCAGGCAGCTTTTCTACCCACCGGCCCCTCCTAGCCATCTATCCCATAGCCCAGGCTCAAATACGCCCTGTGAGAGCTTCTGTAGCCTTTCAGCTTTAAAGCCCAGCCTTGCCTCACCCCCAACTTTGAGCCAGGTCCTTCAACAGACTTTCTACTCTGTAGAGAGAAACCGCTGAGGAACCAGCAGCTTCCATGCCTGCTGGTGCCTAAGAGGGCCACGGTGTGTGTGTGTGTGTGTGTGCAGAGGCCCGGGGTCCATGTCTCCAAGCCAAGGCCCCCCTGGCTGCCCTCCCCATCCCGAGGGACTTGGTCCCAGGGCACACCTGAGCTCCTGCTGGGCAGCTGTGGAATCCAGCGTGTCCTCCAACTCTGTTTTCAGAGCCTCTAGCTCTTCCCCAAGGTCCCGTTTCTGCTTCTCAGCTTTATTCCTGGAAGCACGCTCAGACTCCAGGTCTTCCTGGAGTTCAGAGATCTGAGATTCCAGCTCCCGGATCTTCTTGAGGGCCATGTTCTTCTGGGCAGCTTCCTCTTCCACTCTGCCAAAGCGACCAGCAACATCAGTATAAGGAGAGTTTCACCTCCAAGGAGCAGAGTTTGCAGGACAGGCCTGAGAGAGCTGCAGCAGCCAAAGCTGCCTCCTGTGGTCACAATCATGGCACTTAGGATGGCTCTCAGCAGAAACAACATCTGAGACAACCAGATTGAAGGGCAACACCCCTCTGAGAAGCAGAAAACCTCATAGAGGAATCGTTTCAATTTCCAAAGTAAGATTCACTGCTTCAAATATTTTTAAAAGTCAAATGATGTGTTAAATGGGAAGAAAAGGAAATAAAACGCTACACCACAGGACAACTGCAACTCAGTAAAAATACGAATGTGCTACGGACTTTAGATGGTTATGACAGGTCAACGTAGGTTCACCAATTAGAACAGACACAGCACTGTGGTAGGGGATGTTGACTGCAGGGGAGGCGGTGCGTGAGTGGGGCAGTGGATAGATGGAGAATCTTCTGCTGACTCTTCTGTGAATCTAAAACTACTCTAAAAAATAAAGTCTCTTTCTTTTTTTTTTAAACAGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAATGGCACGATCTTGGCTGACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGTGAGATTACAGTCGTGTGCCACCACACTGGCGAATTTTTTATATTTTTGGTAGGGATGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGGCTTGGCCTCCCAAAGTGCTGGGATCACAGACGTGAGCCAACGTGCCTGGTCAAGTCTTTTTTTTTTTTTTTTTTTTTTTTAAGTGTGCCTATAGCAAGAAATTAGGAAAGGACTATTGTAGGTGGGTGATAGAGCTGTGGATGACTTTTTTTCAAATTATAAACAAACAAAAGACAAATGAGGCCCCTCACCATGCCCTGAGTGCACAAGAACTGTTTTGCTATGAAATAAATGGCTCTTTTAAGACAACAGTGGAAAGAATGCTCACAGCTCACTAGTGCCGAGAACTAGGGCCAGCAGCAAGCAGGAAGGGCTGGCCCAGGCCACCTGGCCTCAGGCGGGCAGGCGGGGTCCTCACCTGGCCAGGGCGGCCTGGAGCTCCTCCTCTTTCTTGGCCAGCTGCATCTTGAGCTCCGCGATCTGGGCCTGGAGCTCGGCGATCTGGTCGCTGAGGTCTGTGGAGTCTCCCTCCAGCTTCCGGCGGGTCTTCTCCAGCTCCTGTCGCTGCTTCTCCTCCCTGCGGAGGCGCTCTGCAATGCAGGGGGAGCCCACATAGCCCTCAGTGCCATGGGTTCTGTCTCCGTGTCAATTACTTATACAAAATACTGAGCACTCGTTATGAAACGTGTGTC
GCACAGGGACTGCCACCACCATGGCTTGCTGCCTACATCCATAATGGAAGCAATGCTGAATTTCAGCTAAAGACTGGTGAAAATAAAGGTGTAAAATAGTGAAAATAGTGGTGTCCCCCATCTAAGTCCACAGATCCCTGGATTCCTTTCCTTGAGAGCACTGATGTGGGAGAGCACGGTTGGCTTCCCAGGGGGAGAGCAGCAATGGGCCGGCCCAGCGGGCAGGGCTGTCCTGCAGTGCCCAGGCCAGTGCCCGGCCAGCAGCTCCCCAGCCTGCAGAGTCCGGCCGGTCCCCCAGGCCTCCAAACCTGGGCATGGAGGGTGGCGATCTGCTTCTCCAGGTTGTGCTTGGCCTCCTCCTCCTCCTCCAGCTGCTCCCGGAAGGAATTCTTCTCGTCCTCCACCTGCTTGAGCTTGGTGCTCAGGCTCAGCTTCTGCCGGTTCTCCTCCTGCAGCAGCTCCTACTCGCGGGTTGAGAGGGGTGCGGGTGCTTAGGAGGGTGGTGTCCAAAACCCAGGAACCCCACACCCTTGAGGAGAGGGAGGAGCTGGTCCTGCTGATTTAGGGGATGGCCACGTAAAGACCTGGAGGGAGCTGGGAGGACGCAGAGACCCACCCACAGGATGAAGCAGATGAAGGAGAGGATGGGCAATCCGATGGGCTCTGAAGCTAATGTTGCGTGGACACAGAGGCCTTTCTGGAGGGGTCCACCTTCTGGGAACCTGGCGCCACCCCTACCTGAGTGTCCTGCAGCTGGGACTCCAGCGCGGAGAAGTCCTTGGTGAGCTTGCTGGACTTGCTGTCGGACTGGCTGAGAAGCCCGGTCACGTTGTCCAGCTCCACCTGCACCGGGCGGGGAGACACAAAGGACCATGGACCCACCCCCACTGCTCCTGCCCCACCTCATCTCCTTTAGGTAAAGCTGGACCTGAGTCACAAGCTGAACCATGAGGGTCTGAGGAGCCAGTTTGAGAAGAGAGAGAGACAGAGAGCACACATGCACCTGGGGACCTGGGCCACAACTGCTGCTAGGGCCCACTGCCCGCGCCAGGGTCCTGGCGGAGGCCTCACCTGCAGCTTGGTGACCTTGTCGGCCAGCTCTGTGCGCACGCGCTCTCCCTCGTTGAACTTGACCTGCAGCTCCTGCAGCTGCGCCTCCACTTTCTTGCGCTTGTGCTCCGAGTCCCCTTTGCCCTGCAGCAGCACCTTCACCTCGTTGGCCAGCTCCCCCCGCTCGTTCTCCAGAGTCTGCTTTGCCTTCTCGAGGTTTGCTTTCACCTAGCAGGGAAGAAAGCAAAGACGTGAGTGGGGGCCTCCTGACACAAGGCTGGCTGGTCTATCATCACTGGACCCTAGATCCAGACATCGCTGCTTCTGCAGCCCTGACGACGGTGTGCCTGCGTCCTGGACTCAGACGGCTCGGGCCTCATCTGTCCTGTCCTCTTCTCTCTTAGCTGGTGGGTGACACTTGGTTCCTGTCTTCACTGCTTAGGACATCTCACAGCTTCCCCATCTCTAAAATAATACCTGCCCAGCCTTCTGCCCTGGGTAGAGGCCAGGTTCTAGGGCATGGCATTGGTGTTGCAGATGTTAGCAATATTTGTAACGCAATAAGGGGAACTATAATTGTTTGCAGTTAGACTTCCAATAAAGCCTGTCTGAAGTCTGATGTTCAAAGTAACGATGTAATGTTTTCACCCTCAAATAATCACGAGACAGACATACCATAATCCTCCCTTATGAACAGGGAAACTGAGGCACGAGTCACAAAGCCCCTTAGAAGGGGAGCCTGGCCTCAGAACCAGGCAGTTGGGTAGAACCCTGCAACTGCTCTGCAGGACTGGTTTGGATTCTGTGGGCCCAGCACGGGGAACCCTGCCCTCCCCCTGCGGTCTCAGGGAGGCTCCGCACCCGCTTCGTCTGCTCCAGCTGCTCCGCCAGCTCCTCCACGGCCTGTGAGTGCTTCTGCCTCATCTCCTGGATCTGGGCCTCGTGGGTCTTGGCCTCCTCCTCCAGGGTCTTCTTCAGGATGTTCACCTCCTGCTCACATTTTGACCTGGACAGAGAAATCCCCTCAGAGTGGAGGCCGGGGATGCTGGAGCGAGGCTGTCCCTGGGGCTCTTCCCTGACCAAAGAGAGGCCTGGCCAGGGCACAGGCACTCCAGGCAGCTTTTCTACCCACCGGCCCCTCCTAGCCATCTATCCCATAGCCCAGGCTCAAATACGCCCTGTGAGAGCTTCTGTAGCCTTTCAGCTTTAAAGCCCAGCCTTGCCTCACCCCCAACTTTGAGCCAGGTCCTTCAACAGACTTTCTACTCTGTAGAGAGAAACCGCTGAGGAACCAGCAGCTTCCATGCCTGCTGGTGCCTAAGAGGGCCACGGTGTGTGTGTGTGTGTGTGTGCAGAGGCCCGGGGTCCATGTCTCCAAGCCAAGGCCCCCCTGGCTGCCCTCCCCATCCCGAGGGACTTGGTCCCAGGGCACACCTGAGCTCCTGCTGGGCAGCTGTGGAATCCAGCGTGTCCTCCAACTCTGTTTTCAGAGCCTCTAGCTCTTCCCCAAGGTCCCGTTTCTGCTTCTCAGCTTTATTCCTGGAAGCACGCTCAGACTCCAGGTCTTCCTGGAGTTCAGAGATCTGAGATTCCAGCTCCCGGATCTTCTTGAGGGCCATGTTCTTCTGGGCAGCTTCCTCTTCCACTCTGCCAAAGCGACCAGCAACATCAGTATAAGGAGAGTTTCACCTCCAAGGAGCAGAGTTTGCAGGACAGGCCTGAGAGAGCTGCAGCAGCCAAAGCTGCCTCCTGTGGTCACAATCATGGCACTTAGGATGGCTCTCAGCAGAAACAACATCTGAGACAACCAGATTGAAGGGCAACACCCCTCTGAGAAGCAGAAAACCTCATAGAGGAATCGTTTCAATTTCCAAAGTAAGATTCACTGCTTCAAATATTTTTAAAAGTCAAATGATGTGTTAAATGGGAAGAAAAGGAAATAAAACGCTACACCACAGGACAACTGCAACTCAGTAAAAATACGAATGTGCTACGGACTTTAGATGGTTATGACAGGTCAACGTAGGTTCACCAATTAGAACAGACACAGCACTGTGGTAGGGGATGTTGACTGCAGGGGAGGCGGTGCGTGAGTGGGGCAGTGGATAGATGGAGAATCTTCTGCTGACTCTTCTGTGAATCTAAAACTACTCTAAAAAATAAAGTCTCTTTCTTTTTTTTTTAAACAGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAATGGCACGATCTTGGCTGACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGTGAGATTACAGTCGTGTGCCACCACACTGGCGAATTTTTTATATTTTTGGTAGGGATGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGGCTTGGCCTCCCAAAGTGCTGGGATCACAGACGTGAGCCAACGTGCCTGGTCAAGTCTTTTTTTTTTTTTTTTTTTTTTTTAAGTGTGCCTATAGCAAGAAATTAGGAAAGGACTATTGTAGGTGGGTGATAGAGCTGTGGATGACTTTTTTTCAAATTATAAACAAACAAAAGACAAATGAGGCCCCTCACCATGCCCTGAGTGCACAAGAACTGTTTTGCTATGAAATAAATGGCTCTTTTAAGACAACAGTGGAAAGAATGCTCACAGCTCACTAGTGCCGAGAACTAGGGCCAGCAGCAAGCAGGAAGGGCTGGCCCAGGCCACCTGGCCTCAGGCGGGCAGGCGGGGTCCTCACCTGGCCAGGGCGGCCTGGAGCTCCTCCTCTTTCTTGGCCAGCTGCATCTTGAGCTCCGCGATCTGGGCCTGGAGCTCGGCGATCTGGTCGCTGAGGTCTGTGGAGTCTCCCTCCAGCTTCCGGCGGGTCTTCTCCAGCTCCTGTCGCTGCTTCTCCTCCCTGCGGAGGCGCTCTGCAATGCAGGGGGAGCCCACATAGCCCTCAGTGCCATGGGTTCTGTCTCCGTGTCAATTACTTATACAAAATACTGAGCACTCGTTATGAAACGTGTGTC
Task1_train_28746
This variant affects the gene MYH9 (myosin heavy chain 9) found on Chromosome 22. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
GCACAGGGACTGCCACCACCATGGCTTGCTGCCTACATCCATAATGGAAGCAATGCTGAATTTCAGCTAAAGACTGGTGAAAATAAAGGTGTAAAATAGTGAAAATAGTGGTGTCCCCCATCTAAGTCCACAGATCCCTGGATTCCTTTCCTTGAGAGCACTGATGTGGGAGAGCACGGTTGGCTTCCCAGGGGGAGAGCAGCAATGGGCCGGCCCAGCGGGCAGGGCTGTCCTGCAGTGCCCAGGCCAGTGCCCGGCCAGCAGCTCCCCAGCCTGCAGAGTCCGGCCGGTCCCCCAGGCCTCCAAACCTGGGCATGGAGGGTGGCGATCTGCTTCTCCAGGTTGTGCTTGGCCTCCTCCTCCTCCTCCAGCTGCTCCCGGAAGGAATTCTTCTCGTCCTCCACCTGCTTGAGCTTGGTGCTCAGGCTCAGCTTCTGCCGGTTCTCCTCCTGCAGCAGCTCCTACTCGCGGGTTGAGAGGGGTGCGGGTGCTTAGGAGGGTGGTGTCCAAAACCCAGGAACCCCACACCCTTGAGGAGAGGGAGGAGCTGGTCCTGCTGATTTAGGGGATGGCCACGTAAAGACCTGGAGGGAGCTGGGAGGACGCAGAGACCCACCCACAGGATGAAGCAGATGAAGGAGAGGATGGGCAATCCGATGGGCTCTGAAGCTAATGTTGCGTGGACACAGAGGCCTTTCTGGAGGGGTCCACCTTCTGGGAACCTGGCGCCACCCCTACCTGAGTGTCCTGCAGCTGGGACTCCAGCGCGGAGAAGTCCTTGGTGAGCTTGCTGGACTTGCTGTCGGACTGGCTGAGAAGCCCGGTCACGTTGTCCAGCTCCACCTGCACCGGGCGGGGAGACACAAAGGACCATGGACCCACCCCCACTGCTCCTGCCCCACCTCATCTCCTTTAGGTAAAGCTGGACCTGAGTCACAAGCTGAACCATGAGGGTCTGAGGAGCCAGTTTGAGAAGAGAGAGAGACAGAGAGCACACATGCACCTGGGGACCTGGGCCACAACTGCTGCTAGGGCCCACTGCCCGCGCCAGGGTCCTGGCGGAGGCCTCACCTGCAGCTTGGTGACCTTGTCGGCCAGCTCTGTGCGCACGCGCTCTCCCTCGTTGAACTTGACCTGCAGCTCCTGCAGCTGCGCCTCCACTTTCTTGCGCTTGTGCTCCGAGTCCCCTTTGCCCTGCAGCAGCACCTTCACCTCGTTGGCCAGCTCCCCCCGCTCGTTCTCCAGAGTCTGCTTTGCCTTCTCGAGGTTTGCTTTCACCTAGCAGGGAAGAAAGCAAAGACGTGAGTGGGGGCCTCCTGACACAAGGCTGGCTGGTCTATCATCACTGGACCCTAGATCCAGACATCGCTGCTTCTGCAGCCCTGACGACGGTGTGCCTGCGTCCTGGACTCAGACGGCTCGGGCCTCATCTGTCCTGTCCTCTTCTCTCTTAGCTGGTGGGTGACACTTGGTTCCTGTCTTCACTGCTTAGGACATCTCACAGCTTCCCCATCTCTAAAATAATACCTGCCCAGCCTTCTGCCCTGGGTAGAGGCCAGGTTCTAGGGCATGGCATTGGTGTTGCAGATGTTAGCAATATTTGTAACGCAATAAGGGGAACTATAATTGTTTGCAGTTAGACTTCCAATAAAGCCTGTCTGAAGTCTGATGTTCAAAGTAACGATGTAATGTTTTCACCCTCAAATAATCACGAGACAGACATACCATAATCCTCCCTTATGAACAGGGAAACTGAGGCACGAGTCACAAAGCCCCTTAGAAGGGGAGCCTGGCCTCAGAACCAGGCAGTTGGGTAGAACCCTGCAACTGCTCTGCAGGACTGGTTTGGATTCTGTGGGCCCAGCACGGGGAACCCTGCCCTCCCCCTGCGGTCTCAGGGAGGCTCCGCACCCGCTTCGTCTGCTCCAGCTGCTCCGCCAGCTCCTCCACGGCCTGTGAGTGCTTCTGCCTCATCTCCTGGATCTGGGCCTCGTGGGTCTTGGCCTCCTCCTCCAGGGTCTTCTTCAGGATGTTCACCTCCTGCTCACGTTTTGACCTGGACAGAGAAATCCCCTCAGAGTGGAGGCCGGGGATGCTGGAGCGAGGCTGTCCCTGGGGCTCTTCCCTGACCAAAGAGAGGCCTGGCCAGGGCACAGGCACTCCAGGCAGCTTTTCTACCCACCGGCCCCTCCTAGCCATCTATCCCATAGCCCAGGCTCAAATACGCCCTGTGAGAGCTTCTGTAGCCTTTCAGCTTTAAAGCCCAGCCTTGCCTCACCCCCAACTTTGAGCCAGGTCCTTCAACAGACTTTCTACTCTGTAGAGAGAAACCGCTGAGGAACCAGCAGCTTCCATGCCTGCTGGTGCCTAAGAGGGCCACGGTGTGTGTGTGTGTGTGTGTGCAGAGGCCCGGGGTCCATGTCTCCAAGCCAAGGCCCCCCTGGCTGCCCTCCCCATCCCGAGGGACTTGGTCCCAGGGCACACCTGAGCTCCTGCTGGGCAGCTGTGGAATCCAGCGTGTCCTCCAACTCTGTTTTCAGAGCCTCTAGCTCTTCCCCAAGGTCCCGTTTCTGCTTCTCAGCTTTATTCCTGGAAGCACGCTCAGACTCCAGGTCTTCCTGGAGTTCAGAGATCTGAGATTCCAGCTCCCGGATCTTCTTGAGGGCCATGTTCTTCTGGGCAGCTTCCTCTTCCACTCTGCCAAAGCGACCAGCAACATCAGTATAAGGAGAGTTTCACCTCCAAGGAGCAGAGTTTGCAGGACAGGCCTGAGAGAGCTGCAGCAGCCAAAGCTGCCTCCTGTGGTCACAATCATGGCACTTAGGATGGCTCTCAGCAGAAACAACATCTGAGACAACCAGATTGAAGGGCAACACCCCTCTGAGAAGCAGAAAACCTCATAGAGGAATCGTTTCAATTTCCAAAGTAAGATTCACTGCTTCAAATATTTTTAAAAGTCAAATGATGTGTTAAATGGGAAGAAAAGGAAATAAAACGCTACACCACAGGACAACTGCAACTCAGTAAAAATACGAATGTGCTACGGACTTTAGATGGTTATGACAGGTCAACGTAGGTTCACCAATTAGAACAGACACAGCACTGTGGTAGGGGATGTTGACTGCAGGGGAGGCGGTGCGTGAGTGGGGCAGTGGATAGATGGAGAATCTTCTGCTGACTCTTCTGTGAATCTAAAACTACTCTAAAAAATAAAGTCTCTTTCTTTTTTTTTTAAACAGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAATGGCACGATCTTGGCTGACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGTGAGATTACAGTCGTGTGCCACCACACTGGCGAATTTTTTATATTTTTGGTAGGGATGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGGCTTGGCCTCCCAAAGTGCTGGGATCACAGACGTGAGCCAACGTGCCTGGTCAAGTCTTTTTTTTTTTTTTTTTTTTTTTTAAGTGTGCCTATAGCAAGAAATTAGGAAAGGACTATTGTAGGTGGGTGATAGAGCTGTGGATGACTTTTTTTCAAATTATAAACAAACAAAAGACAAATGAGGCCCCTCACCATGCCCTGAGTGCACAAGAACTGTTTTGCTATGAAATAAATGGCTCTTTTAAGACAACAGTGGAAAGAATGCTCACAGCTCACTAGTGCCGAGAACTAGGGCCAGCAGCAAGCAGGAAGGGCTGGCCCAGGCCACCTGGCCTCAGGCGGGCAGGCGGGGTCCTCACCTGGCCAGGGCGGCCTGGAGCTCCTCCTCTTTCTTGGCCAGCTGCATCTTGAGCTCCGCGATCTGGGCCTGGAGCTCGGCGATCTGGTCGCTGAGGTCTGTGGAGTCTCCCTCCAGCTTCCGGCGGGTCTTCTCCAGCTCCTGTCGCTGCTTCTCCTCCCTGCGGAGGCGCTCTGCAATGCAGGGGGAGCCCACATAGCCCTCAGTGCCATGGGTTCTGTCTCCGTGTCAATTACTTATACAAAATACTGAGCACTCGTTATGAAACGTGTGTC
GCACAGGGACTGCCACCACCATGGCTTGCTGCCTACATCCATAATGGAAGCAATGCTGAATTTCAGCTAAAGACTGGTGAAAATAAAGGTGTAAAATAGTGAAAATAGTGGTGTCCCCCATCTAAGTCCACAGATCCCTGGATTCCTTTCCTTGAGAGCACTGATGTGGGAGAGCACGGTTGGCTTCCCAGGGGGAGAGCAGCAATGGGCCGGCCCAGCGGGCAGGGCTGTCCTGCAGTGCCCAGGCCAGTGCCCGGCCAGCAGCTCCCCAGCCTGCAGAGTCCGGCCGGTCCCCCAGGCCTCCAAACCTGGGCATGGAGGGTGGCGATCTGCTTCTCCAGGTTGTGCTTGGCCTCCTCCTCCTCCTCCAGCTGCTCCCGGAAGGAATTCTTCTCGTCCTCCACCTGCTTGAGCTTGGTGCTCAGGCTCAGCTTCTGCCGGTTCTCCTCCTGCAGCAGCTCCTACTCGCGGGTTGAGAGGGGTGCGGGTGCTTAGGAGGGTGGTGTCCAAAACCCAGGAACCCCACACCCTTGAGGAGAGGGAGGAGCTGGTCCTGCTGATTTAGGGGATGGCCACGTAAAGACCTGGAGGGAGCTGGGAGGACGCAGAGACCCACCCACAGGATGAAGCAGATGAAGGAGAGGATGGGCAATCCGATGGGCTCTGAAGCTAATGTTGCGTGGACACAGAGGCCTTTCTGGAGGGGTCCACCTTCTGGGAACCTGGCGCCACCCCTACCTGAGTGTCCTGCAGCTGGGACTCCAGCGCGGAGAAGTCCTTGGTGAGCTTGCTGGACTTGCTGTCGGACTGGCTGAGAAGCCCGGTCACGTTGTCCAGCTCCACCTGCACCGGGCGGGGAGACACAAAGGACCATGGACCCACCCCCACTGCTCCTGCCCCACCTCATCTCCTTTAGGTAAAGCTGGACCTGAGTCACAAGCTGAACCATGAGGGTCTGAGGAGCCAGTTTGAGAAGAGAGAGAGACAGAGAGCACACATGCACCTGGGGACCTGGGCCACAACTGCTGCTAGGGCCCACTGCCCGCGCCAGGGTCCTGGCGGAGGCCTCACCTGCAGCTTGGTGACCTTGTCGGCCAGCTCTGTGCGCACGCGCTCTCCCTCGTTGAACTTGACCTGCAGCTCCTGCAGCTGCGCCTCCACTTTCTTGCGCTTGTGCTCCGAGTCCCCTTTGCCCTGCAGCAGCACCTTCACCTCGTTGGCCAGCTCCCCCCGCTCGTTCTCCAGAGTCTGCTTTGCCTTCTCGAGGTTTGCTTTCACCTAGCAGGGAAGAAAGCAAAGACGTGAGTGGGGGCCTCCTGACACAAGGCTGGCTGGTCTATCATCACTGGACCCTAGATCCAGACATCGCTGCTTCTGCAGCCCTGACGACGGTGTGCCTGCGTCCTGGACTCAGACGGCTCGGGCCTCATCTGTCCTGTCCTCTTCTCTCTTAGCTGGTGGGTGACACTTGGTTCCTGTCTTCACTGCTTAGGACATCTCACAGCTTCCCCATCTCTAAAATAATACCTGCCCAGCCTTCTGCCCTGGGTAGAGGCCAGGTTCTAGGGCATGGCATTGGTGTTGCAGATGTTAGCAATATTTGTAACGCAATAAGGGGAACTATAATTGTTTGCAGTTAGACTTCCAATAAAGCCTGTCTGAAGTCTGATGTTCAAAGTAACGATGTAATGTTTTCACCCTCAAATAATCACGAGACAGACATACCATAATCCTCCCTTATGAACAGGGAAACTGAGGCACGAGTCACAAAGCCCCTTAGAAGGGGAGCCTGGCCTCAGAACCAGGCAGTTGGGTAGAACCCTGCAACTGCTCTGCAGGACTGGTTTGGATTCTGTGGGCCCAGCACGGGGAACCCTGCCCTCCCCCTGCGGTCTCAGGGAGGCTCCGCACCCGCTTCGTCTGCTCCAGCTGCTCCGCCAGCTCCTCCACGGCCTGTGAGTGCTTCTGCCTCATCTCCTGGATCTGGGCCTCGTGGGTCTTGGCCTCCTCCTCCAGGGTCTTCTTCAGGATGTTCACCTCCTGCTCACATTTTGACCTGGACAGAGAAATCCCCTCAGAGTGGAGGCCGGGGATGCTGGAGCGAGGCTGTCCCTGGGGCTCTTCCCTGACCAAAGAGAGGCCTGGCCAGGGCACAGGCACTCCAGGCAGCTTTTCTACCCACCGGCCCCTCCTAGCCATCTATCCCATAGCCCAGGCTCAAATACGCCCTGTGAGAGCTTCTGTAGCCTTTCAGCTTTAAAGCCCAGCCTTGCCTCACCCCCAACTTTGAGCCAGGTCCTTCAACAGACTTTCTACTCTGTAGAGAGAAACCGCTGAGGAACCAGCAGCTTCCATGCCTGCTGGTGCCTAAGAGGGCCACGGTGTGTGTGTGTGTGTGTGTGCAGAGGCCCGGGGTCCATGTCTCCAAGCCAAGGCCCCCCTGGCTGCCCTCCCCATCCCGAGGGACTTGGTCCCAGGGCACACCTGAGCTCCTGCTGGGCAGCTGTGGAATCCAGCGTGTCCTCCAACTCTGTTTTCAGAGCCTCTAGCTCTTCCCCAAGGTCCCGTTTCTGCTTCTCAGCTTTATTCCTGGAAGCACGCTCAGACTCCAGGTCTTCCTGGAGTTCAGAGATCTGAGATTCCAGCTCCCGGATCTTCTTGAGGGCCATGTTCTTCTGGGCAGCTTCCTCTTCCACTCTGCCAAAGCGACCAGCAACATCAGTATAAGGAGAGTTTCACCTCCAAGGAGCAGAGTTTGCAGGACAGGCCTGAGAGAGCTGCAGCAGCCAAAGCTGCCTCCTGTGGTCACAATCATGGCACTTAGGATGGCTCTCAGCAGAAACAACATCTGAGACAACCAGATTGAAGGGCAACACCCCTCTGAGAAGCAGAAAACCTCATAGAGGAATCGTTTCAATTTCCAAAGTAAGATTCACTGCTTCAAATATTTTTAAAAGTCAAATGATGTGTTAAATGGGAAGAAAAGGAAATAAAACGCTACACCACAGGACAACTGCAACTCAGTAAAAATACGAATGTGCTACGGACTTTAGATGGTTATGACAGGTCAACGTAGGTTCACCAATTAGAACAGACACAGCACTGTGGTAGGGGATGTTGACTGCAGGGGAGGCGGTGCGTGAGTGGGGCAGTGGATAGATGGAGAATCTTCTGCTGACTCTTCTGTGAATCTAAAACTACTCTAAAAAATAAAGTCTCTTTCTTTTTTTTTTAAACAGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAATGGCACGATCTTGGCTGACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGTGAGATTACAGTCGTGTGCCACCACACTGGCGAATTTTTTATATTTTTGGTAGGGATGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGGCTTGGCCTCCCAAAGTGCTGGGATCACAGACGTGAGCCAACGTGCCTGGTCAAGTCTTTTTTTTTTTTTTTTTTTTTTTTAAGTGTGCCTATAGCAAGAAATTAGGAAAGGACTATTGTAGGTGGGTGATAGAGCTGTGGATGACTTTTTTTCAAATTATAAACAAACAAAAGACAAATGAGGCCCCTCACCATGCCCTGAGTGCACAAGAACTGTTTTGCTATGAAATAAATGGCTCTTTTAAGACAACAGTGGAAAGAATGCTCACAGCTCACTAGTGCCGAGAACTAGGGCCAGCAGCAAGCAGGAAGGGCTGGCCCAGGCCACCTGGCCTCAGGCGGGCAGGCGGGGTCCTCACCTGGCCAGGGCGGCCTGGAGCTCCTCCTCTTTCTTGGCCAGCTGCATCTTGAGCTCCGCGATCTGGGCCTGGAGCTCGGCGATCTGGTCGCTGAGGTCTGTGGAGTCTCCCTCCAGCTTCCGGCGGGTCTTCTCCAGCTCCTGTCGCTGCTTCTCCTCCCTGCGGAGGCGCTCTGCAATGCAGGGGGAGCCCACATAGCCCTCAGTGCCATGGGTTCTGTCTCCGTGTCAATTACTTATACAAAATACTGAGCACTCGTTATGAAACGTGTGTC
Task1_train_28747
This variant affects the gene MYH9 (myosin heavy chain 9) found on Chromosome 22. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Autosomal dominant nonsyndromic hearing loss 17
GCACAGGGACTGCCACCACCATGGCTTGCTGCCTACATCCATAATGGAAGCAATGCTGAATTTCAGCTAAAGACTGGTGAAAATAAAGGTGTAAAATAGTGAAAATAGTGGTGTCCCCCATCTAAGTCCACAGATCCCTGGATTCCTTTCCTTGAGAGCACTGATGTGGGAGAGCACGGTTGGCTTCCCAGGGGGAGAGCAGCAATGGGCCGGCCCAGCGGGCAGGGCTGTCCTGCAGTGCCCAGGCCAGTGCCCGGCCAGCAGCTCCCCAGCCTGCAGAGTCCGGCCGGTCCCCCAGGCCTCCAAACCTGGGCATGGAGGGTGGCGATCTGCTTCTCCAGGTTGTGCTTGGCCTCCTCCTCCTCCTCCAGCTGCTCCCGGAAGGAATTCTTCTCGTCCTCCACCTGCTTGAGCTTGGTGCTCAGGCTCAGCTTCTGCCGGTTCTCCTCCTGCAGCAGCTCCTACTCGCGGGTTGAGAGGGGTGCGGGTGCTTAGGAGGGTGGTGTCCAAAACCCAGGAACCCCACACCCTTGAGGAGAGGGAGGAGCTGGTCCTGCTGATTTAGGGGATGGCCACGTAAAGACCTGGAGGGAGCTGGGAGGACGCAGAGACCCACCCACAGGATGAAGCAGATGAAGGAGAGGATGGGCAATCCGATGGGCTCTGAAGCTAATGTTGCGTGGACACAGAGGCCTTTCTGGAGGGGTCCACCTTCTGGGAACCTGGCGCCACCCCTACCTGAGTGTCCTGCAGCTGGGACTCCAGCGCGGAGAAGTCCTTGGTGAGCTTGCTGGACTTGCTGTCGGACTGGCTGAGAAGCCCGGTCACGTTGTCCAGCTCCACCTGCACCGGGCGGGGAGACACAAAGGACCATGGACCCACCCCCACTGCTCCTGCCCCACCTCATCTCCTTTAGGTAAAGCTGGACCTGAGTCACAAGCTGAACCATGAGGGTCTGAGGAGCCAGTTTGAGAAGAGAGAGAGACAGAGAGCACACATGCACCTGGGGACCTGGGCCACAACTGCTGCTAGGGCCCACTGCCCGCGCCAGGGTCCTGGCGGAGGCCTCACCTGCAGCTTGGTGACCTTGTCGGCCAGCTCTGTGCGCACGCGCTCTCCCTCGTTGAACTTGACCTGCAGCTCCTGCAGCTGCGCCTCCACTTTCTTGCGCTTGTGCTCCGAGTCCCCTTTGCCCTGCAGCAGCACCTTCACCTCGTTGGCCAGCTCCCCCCGCTCGTTCTCCAGAGTCTGCTTTGCCTTCTCGAGGTTTGCTTTCACCTAGCAGGGAAGAAAGCAAAGACGTGAGTGGGGGCCTCCTGACACAAGGCTGGCTGGTCTATCATCACTGGACCCTAGATCCAGACATCGCTGCTTCTGCAGCCCTGACGACGGTGTGCCTGCGTCCTGGACTCAGACGGCTCGGGCCTCATCTGTCCTGTCCTCTTCTCTCTTAGCTGGTGGGTGACACTTGGTTCCTGTCTTCACTGCTTAGGACATCTCACAGCTTCCCCATCTCTAAAATAATACCTGCCCAGCCTTCTGCCCTGGGTAGAGGCCAGGTTCTAGGGCATGGCATTGGTGTTGCAGATGTTAGCAATATTTGTAACGCAATAAGGGGAACTATAATTGTTTGCAGTTAGACTTCCAATAAAGCCTGTCTGAAGTCTGATGTTCAAAGTAACGATGTAATGTTTTCACCCTCAAATAATCACGAGACAGACATACCATAATCCTCCCTTATGAACAGGGAAACTGAGGCACGAGTCACAAAGCCCCTTAGAAGGGGAGCCTGGCCTCAGAACCAGGCAGTTGGGTAGAACCCTGCAACTGCTCTGCAGGACTGGTTTGGATTCTGTGGGCCCAGCACGGGGAACCCTGCCCTCCCCCTGCGGTCTCAGGGAGGCTCCGCACCCGCTTCGTCTGCTCCAGCTGCTCCGCCAGCTCCTCCACGGCCTGTGAGTGCTTCTGCCTCATCTCCTGGATCTGGGCCTCGTGGGTCTTGGCCTCCTCCTCCAGGGTCTTCTTCAGGATGTTCACCTCCTGCTCACGTTTTGACCTGGACAGAGAAATCCCCTCAGAGTGGAGGCCGGGGATGCTGGAGCGAGGCTGTCCCTGGGGCTCTTCCCTGACCAAAGAGAGGCCTGGCCAGGGCACAGGCACTCCAGGCAGCTTTTCTACCCACCGGCCCCTCCTAGCCATCTATCCCATAGCCCAGGCTCAAATACGCCCTGTGAGAGCTTCTGTAGCCTTTCAGCTTTAAAGCCCAGCCTTGCCTCACCCCCAACTTTGAGCCAGGTCCTTCAACAGACTTTCTACTCTGTAGAGAGAAACCGCTGAGGAACCAGCAGCTTCCATGCCTGCTGGTGCCTAAGAGGGCCACGGTGTGTGTGTGTGTGTGTGTGCAGAGGCCCGGGGTCCATGTCTCCAAGCCAAGGCCCCCCTGGCTGCCCTCCCCATCCCGAGGGACTTGGTCCCAGGGCACACCTGAGCTCCTGCTGGGCAGCTGTGGAATCCAGCGTGTCCTCCAACTCTGTTTTCAGAGCCTCTAGCTCTTCCCCAAGGTCCCGTTTCTGCTTCTCAGCTTTATTCCTGGAAGCACGCTCAGACTCCAGGTCTTCCTGGAGTTCAGAGATCTGAGATTCCAGCTCCCGGATCTTCTTGAGGGCCATGTTCTTCTGGGCAGCTTCCTCTTCCACTCTGCCAAAGCGACCAGCAACATCAGTATAAGGAGAGTTTCACCTCCAAGGAGCAGAGTTTGCAGGACAGGCCTGAGAGAGCTGCAGCAGCCAAAGCTGCCTCCTGTGGTCACAATCATGGCACTTAGGATGGCTCTCAGCAGAAACAACATCTGAGACAACCAGATTGAAGGGCAACACCCCTCTGAGAAGCAGAAAACCTCATAGAGGAATCGTTTCAATTTCCAAAGTAAGATTCACTGCTTCAAATATTTTTAAAAGTCAAATGATGTGTTAAATGGGAAGAAAAGGAAATAAAACGCTACACCACAGGACAACTGCAACTCAGTAAAAATACGAATGTGCTACGGACTTTAGATGGTTATGACAGGTCAACGTAGGTTCACCAATTAGAACAGACACAGCACTGTGGTAGGGGATGTTGACTGCAGGGGAGGCGGTGCGTGAGTGGGGCAGTGGATAGATGGAGAATCTTCTGCTGACTCTTCTGTGAATCTAAAACTACTCTAAAAAATAAAGTCTCTTTCTTTTTTTTTTAAACAGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAATGGCACGATCTTGGCTGACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGTGAGATTACAGTCGTGTGCCACCACACTGGCGAATTTTTTATATTTTTGGTAGGGATGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGGCTTGGCCTCCCAAAGTGCTGGGATCACAGACGTGAGCCAACGTGCCTGGTCAAGTCTTTTTTTTTTTTTTTTTTTTTTTTAAGTGTGCCTATAGCAAGAAATTAGGAAAGGACTATTGTAGGTGGGTGATAGAGCTGTGGATGACTTTTTTTCAAATTATAAACAAACAAAAGACAAATGAGGCCCCTCACCATGCCCTGAGTGCACAAGAACTGTTTTGCTATGAAATAAATGGCTCTTTTAAGACAACAGTGGAAAGAATGCTCACAGCTCACTAGTGCCGAGAACTAGGGCCAGCAGCAAGCAGGAAGGGCTGGCCCAGGCCACCTGGCCTCAGGCGGGCAGGCGGGGTCCTCACCTGGCCAGGGCGGCCTGGAGCTCCTCCTCTTTCTTGGCCAGCTGCATCTTGAGCTCCGCGATCTGGGCCTGGAGCTCGGCGATCTGGTCGCTGAGGTCTGTGGAGTCTCCCTCCAGCTTCCGGCGGGTCTTCTCCAGCTCCTGTCGCTGCTTCTCCTCCCTGCGGAGGCGCTCTGCAATGCAGGGGGAGCCCACATAGCCCTCAGTGCCATGGGTTCTGTCTCCGTGTCAATTACTTATACAAAATACTGAGCACTCGTTATGAAACGTGTGTC
GCACAGGGACTGCCACCACCATGGCTTGCTGCCTACATCCATAATGGAAGCAATGCTGAATTTCAGCTAAAGACTGGTGAAAATAAAGGTGTAAAATAGTGAAAATAGTGGTGTCCCCCATCTAAGTCCACAGATCCCTGGATTCCTTTCCTTGAGAGCACTGATGTGGGAGAGCACGGTTGGCTTCCCAGGGGGAGAGCAGCAATGGGCCGGCCCAGCGGGCAGGGCTGTCCTGCAGTGCCCAGGCCAGTGCCCGGCCAGCAGCTCCCCAGCCTGCAGAGTCCGGCCGGTCCCCCAGGCCTCCAAACCTGGGCATGGAGGGTGGCGATCTGCTTCTCCAGGTTGTGCTTGGCCTCCTCCTCCTCCTCCAGCTGCTCCCGGAAGGAATTCTTCTCGTCCTCCACCTGCTTGAGCTTGGTGCTCAGGCTCAGCTTCTGCCGGTTCTCCTCCTGCAGCAGCTCCTACTCGCGGGTTGAGAGGGGTGCGGGTGCTTAGGAGGGTGGTGTCCAAAACCCAGGAACCCCACACCCTTGAGGAGAGGGAGGAGCTGGTCCTGCTGATTTAGGGGATGGCCACGTAAAGACCTGGAGGGAGCTGGGAGGACGCAGAGACCCACCCACAGGATGAAGCAGATGAAGGAGAGGATGGGCAATCCGATGGGCTCTGAAGCTAATGTTGCGTGGACACAGAGGCCTTTCTGGAGGGGTCCACCTTCTGGGAACCTGGCGCCACCCCTACCTGAGTGTCCTGCAGCTGGGACTCCAGCGCGGAGAAGTCCTTGGTGAGCTTGCTGGACTTGCTGTCGGACTGGCTGAGAAGCCCGGTCACGTTGTCCAGCTCCACCTGCACCGGGCGGGGAGACACAAAGGACCATGGACCCACCCCCACTGCTCCTGCCCCACCTCATCTCCTTTAGGTAAAGCTGGACCTGAGTCACAAGCTGAACCATGAGGGTCTGAGGAGCCAGTTTGAGAAGAGAGAGAGACAGAGAGCACACATGCACCTGGGGACCTGGGCCACAACTGCTGCTAGGGCCCACTGCCCGCGCCAGGGTCCTGGCGGAGGCCTCACCTGCAGCTTGGTGACCTTGTCGGCCAGCTCTGTGCGCACGCGCTCTCCCTCGTTGAACTTGACCTGCAGCTCCTGCAGCTGCGCCTCCACTTTCTTGCGCTTGTGCTCCGAGTCCCCTTTGCCCTGCAGCAGCACCTTCACCTCGTTGGCCAGCTCCCCCCGCTCGTTCTCCAGAGTCTGCTTTGCCTTCTCGAGGTTTGCTTTCACCTAGCAGGGAAGAAAGCAAAGACGTGAGTGGGGGCCTCCTGACACAAGGCTGGCTGGTCTATCATCACTGGACCCTAGATCCAGACATCGCTGCTTCTGCAGCCCTGACGACGGTGTGCCTGCGTCCTGGACTCAGACGGCTCGGGCCTCATCTGTCCTGTCCTCTTCTCTCTTAGCTGGTGGGTGACACTTGGTTCCTGTCTTCACTGCTTAGGACATCTCACAGCTTCCCCATCTCTAAAATAATACCTGCCCAGCCTTCTGCCCTGGGTAGAGGCCAGGTTCTAGGGCATGGCATTGGTGTTGCAGATGTTAGCAATATTTGTAACGCAATAAGGGGAACTATAATTGTTTGCAGTTAGACTTCCAATAAAGCCTGTCTGAAGTCTGATGTTCAAAGTAACGATGTAATGTTTTCACCCTCAAATAATCACGAGACAGACATACCATAATCCTCCCTTATGAACAGGGAAACTGAGGCACGAGTCACAAAGCCCCTTAGAAGGGGAGCCTGGCCTCAGAACCAGGCAGTTGGGTAGAACCCTGCAACTGCTCTGCAGGACTGGTTTGGATTCTGTGGGCCCAGCACGGGGAACCCTGCCCTCCCCCTGCGGTCTCAGGGAGGCTCCGCACCCGCTTCGTCTGCTCCAGCTGCTCCGCCAGCTCCTCCACGGCCTGTGAGTGCTTCTGCCTCATCTCCTGGATCTGGGCCTCGTGGGTCTTGGCCTCCTCCTCCAGGGTCTTCTTCAGGATGTTCACCTCCTGCTCACATTTTGACCTGGACAGAGAAATCCCCTCAGAGTGGAGGCCGGGGATGCTGGAGCGAGGCTGTCCCTGGGGCTCTTCCCTGACCAAAGAGAGGCCTGGCCAGGGCACAGGCACTCCAGGCAGCTTTTCTACCCACCGGCCCCTCCTAGCCATCTATCCCATAGCCCAGGCTCAAATACGCCCTGTGAGAGCTTCTGTAGCCTTTCAGCTTTAAAGCCCAGCCTTGCCTCACCCCCAACTTTGAGCCAGGTCCTTCAACAGACTTTCTACTCTGTAGAGAGAAACCGCTGAGGAACCAGCAGCTTCCATGCCTGCTGGTGCCTAAGAGGGCCACGGTGTGTGTGTGTGTGTGTGTGCAGAGGCCCGGGGTCCATGTCTCCAAGCCAAGGCCCCCCTGGCTGCCCTCCCCATCCCGAGGGACTTGGTCCCAGGGCACACCTGAGCTCCTGCTGGGCAGCTGTGGAATCCAGCGTGTCCTCCAACTCTGTTTTCAGAGCCTCTAGCTCTTCCCCAAGGTCCCGTTTCTGCTTCTCAGCTTTATTCCTGGAAGCACGCTCAGACTCCAGGTCTTCCTGGAGTTCAGAGATCTGAGATTCCAGCTCCCGGATCTTCTTGAGGGCCATGTTCTTCTGGGCAGCTTCCTCTTCCACTCTGCCAAAGCGACCAGCAACATCAGTATAAGGAGAGTTTCACCTCCAAGGAGCAGAGTTTGCAGGACAGGCCTGAGAGAGCTGCAGCAGCCAAAGCTGCCTCCTGTGGTCACAATCATGGCACTTAGGATGGCTCTCAGCAGAAACAACATCTGAGACAACCAGATTGAAGGGCAACACCCCTCTGAGAAGCAGAAAACCTCATAGAGGAATCGTTTCAATTTCCAAAGTAAGATTCACTGCTTCAAATATTTTTAAAAGTCAAATGATGTGTTAAATGGGAAGAAAAGGAAATAAAACGCTACACCACAGGACAACTGCAACTCAGTAAAAATACGAATGTGCTACGGACTTTAGATGGTTATGACAGGTCAACGTAGGTTCACCAATTAGAACAGACACAGCACTGTGGTAGGGGATGTTGACTGCAGGGGAGGCGGTGCGTGAGTGGGGCAGTGGATAGATGGAGAATCTTCTGCTGACTCTTCTGTGAATCTAAAACTACTCTAAAAAATAAAGTCTCTTTCTTTTTTTTTTAAACAGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAATGGCACGATCTTGGCTGACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGTGAGATTACAGTCGTGTGCCACCACACTGGCGAATTTTTTATATTTTTGGTAGGGATGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGGCTTGGCCTCCCAAAGTGCTGGGATCACAGACGTGAGCCAACGTGCCTGGTCAAGTCTTTTTTTTTTTTTTTTTTTTTTTTAAGTGTGCCTATAGCAAGAAATTAGGAAAGGACTATTGTAGGTGGGTGATAGAGCTGTGGATGACTTTTTTTCAAATTATAAACAAACAAAAGACAAATGAGGCCCCTCACCATGCCCTGAGTGCACAAGAACTGTTTTGCTATGAAATAAATGGCTCTTTTAAGACAACAGTGGAAAGAATGCTCACAGCTCACTAGTGCCGAGAACTAGGGCCAGCAGCAAGCAGGAAGGGCTGGCCCAGGCCACCTGGCCTCAGGCGGGCAGGCGGGGTCCTCACCTGGCCAGGGCGGCCTGGAGCTCCTCCTCTTTCTTGGCCAGCTGCATCTTGAGCTCCGCGATCTGGGCCTGGAGCTCGGCGATCTGGTCGCTGAGGTCTGTGGAGTCTCCCTCCAGCTTCCGGCGGGTCTTCTCCAGCTCCTGTCGCTGCTTCTCCTCCCTGCGGAGGCGCTCTGCAATGCAGGGGGAGCCCACATAGCCCTCAGTGCCATGGGTTCTGTCTCCGTGTCAATTACTTATACAAAATACTGAGCACTCGTTATGAAACGTGTGTC
Task1_train_28748
This mutation occurs in MYH9 (myosin heavy chain 9) on Chromosome 22. Does this change lead to a known medical condition, or is it benign?
Pathogenic; MYH9-related disorder
GCACAGGGACTGCCACCACCATGGCTTGCTGCCTACATCCATAATGGAAGCAATGCTGAATTTCAGCTAAAGACTGGTGAAAATAAAGGTGTAAAATAGTGAAAATAGTGGTGTCCCCCATCTAAGTCCACAGATCCCTGGATTCCTTTCCTTGAGAGCACTGATGTGGGAGAGCACGGTTGGCTTCCCAGGGGGAGAGCAGCAATGGGCCGGCCCAGCGGGCAGGGCTGTCCTGCAGTGCCCAGGCCAGTGCCCGGCCAGCAGCTCCCCAGCCTGCAGAGTCCGGCCGGTCCCCCAGGCCTCCAAACCTGGGCATGGAGGGTGGCGATCTGCTTCTCCAGGTTGTGCTTGGCCTCCTCCTCCTCCTCCAGCTGCTCCCGGAAGGAATTCTTCTCGTCCTCCACCTGCTTGAGCTTGGTGCTCAGGCTCAGCTTCTGCCGGTTCTCCTCCTGCAGCAGCTCCTACTCGCGGGTTGAGAGGGGTGCGGGTGCTTAGGAGGGTGGTGTCCAAAACCCAGGAACCCCACACCCTTGAGGAGAGGGAGGAGCTGGTCCTGCTGATTTAGGGGATGGCCACGTAAAGACCTGGAGGGAGCTGGGAGGACGCAGAGACCCACCCACAGGATGAAGCAGATGAAGGAGAGGATGGGCAATCCGATGGGCTCTGAAGCTAATGTTGCGTGGACACAGAGGCCTTTCTGGAGGGGTCCACCTTCTGGGAACCTGGCGCCACCCCTACCTGAGTGTCCTGCAGCTGGGACTCCAGCGCGGAGAAGTCCTTGGTGAGCTTGCTGGACTTGCTGTCGGACTGGCTGAGAAGCCCGGTCACGTTGTCCAGCTCCACCTGCACCGGGCGGGGAGACACAAAGGACCATGGACCCACCCCCACTGCTCCTGCCCCACCTCATCTCCTTTAGGTAAAGCTGGACCTGAGTCACAAGCTGAACCATGAGGGTCTGAGGAGCCAGTTTGAGAAGAGAGAGAGACAGAGAGCACACATGCACCTGGGGACCTGGGCCACAACTGCTGCTAGGGCCCACTGCCCGCGCCAGGGTCCTGGCGGAGGCCTCACCTGCAGCTTGGTGACCTTGTCGGCCAGCTCTGTGCGCACGCGCTCTCCCTCGTTGAACTTGACCTGCAGCTCCTGCAGCTGCGCCTCCACTTTCTTGCGCTTGTGCTCCGAGTCCCCTTTGCCCTGCAGCAGCACCTTCACCTCGTTGGCCAGCTCCCCCCGCTCGTTCTCCAGAGTCTGCTTTGCCTTCTCGAGGTTTGCTTTCACCTAGCAGGGAAGAAAGCAAAGACGTGAGTGGGGGCCTCCTGACACAAGGCTGGCTGGTCTATCATCACTGGACCCTAGATCCAGACATCGCTGCTTCTGCAGCCCTGACGACGGTGTGCCTGCGTCCTGGACTCAGACGGCTCGGGCCTCATCTGTCCTGTCCTCTTCTCTCTTAGCTGGTGGGTGACACTTGGTTCCTGTCTTCACTGCTTAGGACATCTCACAGCTTCCCCATCTCTAAAATAATACCTGCCCAGCCTTCTGCCCTGGGTAGAGGCCAGGTTCTAGGGCATGGCATTGGTGTTGCAGATGTTAGCAATATTTGTAACGCAATAAGGGGAACTATAATTGTTTGCAGTTAGACTTCCAATAAAGCCTGTCTGAAGTCTGATGTTCAAAGTAACGATGTAATGTTTTCACCCTCAAATAATCACGAGACAGACATACCATAATCCTCCCTTATGAACAGGGAAACTGAGGCACGAGTCACAAAGCCCCTTAGAAGGGGAGCCTGGCCTCAGAACCAGGCAGTTGGGTAGAACCCTGCAACTGCTCTGCAGGACTGGTTTGGATTCTGTGGGCCCAGCACGGGGAACCCTGCCCTCCCCCTGCGGTCTCAGGGAGGCTCCGCACCCGCTTCGTCTGCTCCAGCTGCTCCGCCAGCTCCTCCACGGCCTGTGAGTGCTTCTGCCTCATCTCCTGGATCTGGGCCTCGTGGGTCTTGGCCTCCTCCTCCAGGGTCTTCTTCAGGATGTTCACCTCCTGCTCACGTTTTGACCTGGACAGAGAAATCCCCTCAGAGTGGAGGCCGGGGATGCTGGAGCGAGGCTGTCCCTGGGGCTCTTCCCTGACCAAAGAGAGGCCTGGCCAGGGCACAGGCACTCCAGGCAGCTTTTCTACCCACCGGCCCCTCCTAGCCATCTATCCCATAGCCCAGGCTCAAATACGCCCTGTGAGAGCTTCTGTAGCCTTTCAGCTTTAAAGCCCAGCCTTGCCTCACCCCCAACTTTGAGCCAGGTCCTTCAACAGACTTTCTACTCTGTAGAGAGAAACCGCTGAGGAACCAGCAGCTTCCATGCCTGCTGGTGCCTAAGAGGGCCACGGTGTGTGTGTGTGTGTGTGTGCAGAGGCCCGGGGTCCATGTCTCCAAGCCAAGGCCCCCCTGGCTGCCCTCCCCATCCCGAGGGACTTGGTCCCAGGGCACACCTGAGCTCCTGCTGGGCAGCTGTGGAATCCAGCGTGTCCTCCAACTCTGTTTTCAGAGCCTCTAGCTCTTCCCCAAGGTCCCGTTTCTGCTTCTCAGCTTTATTCCTGGAAGCACGCTCAGACTCCAGGTCTTCCTGGAGTTCAGAGATCTGAGATTCCAGCTCCCGGATCTTCTTGAGGGCCATGTTCTTCTGGGCAGCTTCCTCTTCCACTCTGCCAAAGCGACCAGCAACATCAGTATAAGGAGAGTTTCACCTCCAAGGAGCAGAGTTTGCAGGACAGGCCTGAGAGAGCTGCAGCAGCCAAAGCTGCCTCCTGTGGTCACAATCATGGCACTTAGGATGGCTCTCAGCAGAAACAACATCTGAGACAACCAGATTGAAGGGCAACACCCCTCTGAGAAGCAGAAAACCTCATAGAGGAATCGTTTCAATTTCCAAAGTAAGATTCACTGCTTCAAATATTTTTAAAAGTCAAATGATGTGTTAAATGGGAAGAAAAGGAAATAAAACGCTACACCACAGGACAACTGCAACTCAGTAAAAATACGAATGTGCTACGGACTTTAGATGGTTATGACAGGTCAACGTAGGTTCACCAATTAGAACAGACACAGCACTGTGGTAGGGGATGTTGACTGCAGGGGAGGCGGTGCGTGAGTGGGGCAGTGGATAGATGGAGAATCTTCTGCTGACTCTTCTGTGAATCTAAAACTACTCTAAAAAATAAAGTCTCTTTCTTTTTTTTTTAAACAGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAATGGCACGATCTTGGCTGACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGTGAGATTACAGTCGTGTGCCACCACACTGGCGAATTTTTTATATTTTTGGTAGGGATGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGGCTTGGCCTCCCAAAGTGCTGGGATCACAGACGTGAGCCAACGTGCCTGGTCAAGTCTTTTTTTTTTTTTTTTTTTTTTTTAAGTGTGCCTATAGCAAGAAATTAGGAAAGGACTATTGTAGGTGGGTGATAGAGCTGTGGATGACTTTTTTTCAAATTATAAACAAACAAAAGACAAATGAGGCCCCTCACCATGCCCTGAGTGCACAAGAACTGTTTTGCTATGAAATAAATGGCTCTTTTAAGACAACAGTGGAAAGAATGCTCACAGCTCACTAGTGCCGAGAACTAGGGCCAGCAGCAAGCAGGAAGGGCTGGCCCAGGCCACCTGGCCTCAGGCGGGCAGGCGGGGTCCTCACCTGGCCAGGGCGGCCTGGAGCTCCTCCTCTTTCTTGGCCAGCTGCATCTTGAGCTCCGCGATCTGGGCCTGGAGCTCGGCGATCTGGTCGCTGAGGTCTGTGGAGTCTCCCTCCAGCTTCCGGCGGGTCTTCTCCAGCTCCTGTCGCTGCTTCTCCTCCCTGCGGAGGCGCTCTGCAATGCAGGGGGAGCCCACATAGCCCTCAGTGCCATGGGTTCTGTCTCCGTGTCAATTACTTATACAAAATACTGAGCACTCGTTATGAAACGTGTGTC
GCACAGGGACTGCCACCACCATGGCTTGCTGCCTACATCCATAATGGAAGCAATGCTGAATTTCAGCTAAAGACTGGTGAAAATAAAGGTGTAAAATAGTGAAAATAGTGGTGTCCCCCATCTAAGTCCACAGATCCCTGGATTCCTTTCCTTGAGAGCACTGATGTGGGAGAGCACGGTTGGCTTCCCAGGGGGAGAGCAGCAATGGGCCGGCCCAGCGGGCAGGGCTGTCCTGCAGTGCCCAGGCCAGTGCCCGGCCAGCAGCTCCCCAGCCTGCAGAGTCCGGCCGGTCCCCCAGGCCTCCAAACCTGGGCATGGAGGGTGGCGATCTGCTTCTCCAGGTTGTGCTTGGCCTCCTCCTCCTCCTCCAGCTGCTCCCGGAAGGAATTCTTCTCGTCCTCCACCTGCTTGAGCTTGGTGCTCAGGCTCAGCTTCTGCCGGTTCTCCTCCTGCAGCAGCTCCTACTCGCGGGTTGAGAGGGGTGCGGGTGCTTAGGAGGGTGGTGTCCAAAACCCAGGAACCCCACACCCTTGAGGAGAGGGAGGAGCTGGTCCTGCTGATTTAGGGGATGGCCACGTAAAGACCTGGAGGGAGCTGGGAGGACGCAGAGACCCACCCACAGGATGAAGCAGATGAAGGAGAGGATGGGCAATCCGATGGGCTCTGAAGCTAATGTTGCGTGGACACAGAGGCCTTTCTGGAGGGGTCCACCTTCTGGGAACCTGGCGCCACCCCTACCTGAGTGTCCTGCAGCTGGGACTCCAGCGCGGAGAAGTCCTTGGTGAGCTTGCTGGACTTGCTGTCGGACTGGCTGAGAAGCCCGGTCACGTTGTCCAGCTCCACCTGCACCGGGCGGGGAGACACAAAGGACCATGGACCCACCCCCACTGCTCCTGCCCCACCTCATCTCCTTTAGGTAAAGCTGGACCTGAGTCACAAGCTGAACCATGAGGGTCTGAGGAGCCAGTTTGAGAAGAGAGAGAGACAGAGAGCACACATGCACCTGGGGACCTGGGCCACAACTGCTGCTAGGGCCCACTGCCCGCGCCAGGGTCCTGGCGGAGGCCTCACCTGCAGCTTGGTGACCTTGTCGGCCAGCTCTGTGCGCACGCGCTCTCCCTCGTTGAACTTGACCTGCAGCTCCTGCAGCTGCGCCTCCACTTTCTTGCGCTTGTGCTCCGAGTCCCCTTTGCCCTGCAGCAGCACCTTCACCTCGTTGGCCAGCTCCCCCCGCTCGTTCTCCAGAGTCTGCTTTGCCTTCTCGAGGTTTGCTTTCACCTAGCAGGGAAGAAAGCAAAGACGTGAGTGGGGGCCTCCTGACACAAGGCTGGCTGGTCTATCATCACTGGACCCTAGATCCAGACATCGCTGCTTCTGCAGCCCTGACGACGGTGTGCCTGCGTCCTGGACTCAGACGGCTCGGGCCTCATCTGTCCTGTCCTCTTCTCTCTTAGCTGGTGGGTGACACTTGGTTCCTGTCTTCACTGCTTAGGACATCTCACAGCTTCCCCATCTCTAAAATAATACCTGCCCAGCCTTCTGCCCTGGGTAGAGGCCAGGTTCTAGGGCATGGCATTGGTGTTGCAGATGTTAGCAATATTTGTAACGCAATAAGGGGAACTATAATTGTTTGCAGTTAGACTTCCAATAAAGCCTGTCTGAAGTCTGATGTTCAAAGTAACGATGTAATGTTTTCACCCTCAAATAATCACGAGACAGACATACCATAATCCTCCCTTATGAACAGGGAAACTGAGGCACGAGTCACAAAGCCCCTTAGAAGGGGAGCCTGGCCTCAGAACCAGGCAGTTGGGTAGAACCCTGCAACTGCTCTGCAGGACTGGTTTGGATTCTGTGGGCCCAGCACGGGGAACCCTGCCCTCCCCCTGCGGTCTCAGGGAGGCTCCGCACCCGCTTCGTCTGCTCCAGCTGCTCCGCCAGCTCCTCCACGGCCTGTGAGTGCTTCTGCCTCATCTCCTGGATCTGGGCCTCGTGGGTCTTGGCCTCCTCCTCCAGGGTCTTCTTCAGGATGTTCACCTCCTGCTCACATTTTGACCTGGACAGAGAAATCCCCTCAGAGTGGAGGCCGGGGATGCTGGAGCGAGGCTGTCCCTGGGGCTCTTCCCTGACCAAAGAGAGGCCTGGCCAGGGCACAGGCACTCCAGGCAGCTTTTCTACCCACCGGCCCCTCCTAGCCATCTATCCCATAGCCCAGGCTCAAATACGCCCTGTGAGAGCTTCTGTAGCCTTTCAGCTTTAAAGCCCAGCCTTGCCTCACCCCCAACTTTGAGCCAGGTCCTTCAACAGACTTTCTACTCTGTAGAGAGAAACCGCTGAGGAACCAGCAGCTTCCATGCCTGCTGGTGCCTAAGAGGGCCACGGTGTGTGTGTGTGTGTGTGTGCAGAGGCCCGGGGTCCATGTCTCCAAGCCAAGGCCCCCCTGGCTGCCCTCCCCATCCCGAGGGACTTGGTCCCAGGGCACACCTGAGCTCCTGCTGGGCAGCTGTGGAATCCAGCGTGTCCTCCAACTCTGTTTTCAGAGCCTCTAGCTCTTCCCCAAGGTCCCGTTTCTGCTTCTCAGCTTTATTCCTGGAAGCACGCTCAGACTCCAGGTCTTCCTGGAGTTCAGAGATCTGAGATTCCAGCTCCCGGATCTTCTTGAGGGCCATGTTCTTCTGGGCAGCTTCCTCTTCCACTCTGCCAAAGCGACCAGCAACATCAGTATAAGGAGAGTTTCACCTCCAAGGAGCAGAGTTTGCAGGACAGGCCTGAGAGAGCTGCAGCAGCCAAAGCTGCCTCCTGTGGTCACAATCATGGCACTTAGGATGGCTCTCAGCAGAAACAACATCTGAGACAACCAGATTGAAGGGCAACACCCCTCTGAGAAGCAGAAAACCTCATAGAGGAATCGTTTCAATTTCCAAAGTAAGATTCACTGCTTCAAATATTTTTAAAAGTCAAATGATGTGTTAAATGGGAAGAAAAGGAAATAAAACGCTACACCACAGGACAACTGCAACTCAGTAAAAATACGAATGTGCTACGGACTTTAGATGGTTATGACAGGTCAACGTAGGTTCACCAATTAGAACAGACACAGCACTGTGGTAGGGGATGTTGACTGCAGGGGAGGCGGTGCGTGAGTGGGGCAGTGGATAGATGGAGAATCTTCTGCTGACTCTTCTGTGAATCTAAAACTACTCTAAAAAATAAAGTCTCTTTCTTTTTTTTTTAAACAGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAATGGCACGATCTTGGCTGACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGTGAGATTACAGTCGTGTGCCACCACACTGGCGAATTTTTTATATTTTTGGTAGGGATGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGGCTTGGCCTCCCAAAGTGCTGGGATCACAGACGTGAGCCAACGTGCCTGGTCAAGTCTTTTTTTTTTTTTTTTTTTTTTTTAAGTGTGCCTATAGCAAGAAATTAGGAAAGGACTATTGTAGGTGGGTGATAGAGCTGTGGATGACTTTTTTTCAAATTATAAACAAACAAAAGACAAATGAGGCCCCTCACCATGCCCTGAGTGCACAAGAACTGTTTTGCTATGAAATAAATGGCTCTTTTAAGACAACAGTGGAAAGAATGCTCACAGCTCACTAGTGCCGAGAACTAGGGCCAGCAGCAAGCAGGAAGGGCTGGCCCAGGCCACCTGGCCTCAGGCGGGCAGGCGGGGTCCTCACCTGGCCAGGGCGGCCTGGAGCTCCTCCTCTTTCTTGGCCAGCTGCATCTTGAGCTCCGCGATCTGGGCCTGGAGCTCGGCGATCTGGTCGCTGAGGTCTGTGGAGTCTCCCTCCAGCTTCCGGCGGGTCTTCTCCAGCTCCTGTCGCTGCTTCTCCTCCCTGCGGAGGCGCTCTGCAATGCAGGGGGAGCCCACATAGCCCTCAGTGCCATGGGTTCTGTCTCCGTGTCAATTACTTATACAAAATACTGAGCACTCGTTATGAAACGTGTGTC
Task1_train_28749
Here is a variant affecting MYH9 (myosin heavy chain 9) on Chromosome 22. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Autosomal dominant nonsyndromic hearing loss 17
GCACAGGGACTGCCACCACCATGGCTTGCTGCCTACATCCATAATGGAAGCAATGCTGAATTTCAGCTAAAGACTGGTGAAAATAAAGGTGTAAAATAGTGAAAATAGTGGTGTCCCCCATCTAAGTCCACAGATCCCTGGATTCCTTTCCTTGAGAGCACTGATGTGGGAGAGCACGGTTGGCTTCCCAGGGGGAGAGCAGCAATGGGCCGGCCCAGCGGGCAGGGCTGTCCTGCAGTGCCCAGGCCAGTGCCCGGCCAGCAGCTCCCCAGCCTGCAGAGTCCGGCCGGTCCCCCAGGCCTCCAAACCTGGGCATGGAGGGTGGCGATCTGCTTCTCCAGGTTGTGCTTGGCCTCCTCCTCCTCCTCCAGCTGCTCCCGGAAGGAATTCTTCTCGTCCTCCACCTGCTTGAGCTTGGTGCTCAGGCTCAGCTTCTGCCGGTTCTCCTCCTGCAGCAGCTCCTACTCGCGGGTTGAGAGGGGTGCGGGTGCTTAGGAGGGTGGTGTCCAAAACCCAGGAACCCCACACCCTTGAGGAGAGGGAGGAGCTGGTCCTGCTGATTTAGGGGATGGCCACGTAAAGACCTGGAGGGAGCTGGGAGGACGCAGAGACCCACCCACAGGATGAAGCAGATGAAGGAGAGGATGGGCAATCCGATGGGCTCTGAAGCTAATGTTGCGTGGACACAGAGGCCTTTCTGGAGGGGTCCACCTTCTGGGAACCTGGCGCCACCCCTACCTGAGTGTCCTGCAGCTGGGACTCCAGCGCGGAGAAGTCCTTGGTGAGCTTGCTGGACTTGCTGTCGGACTGGCTGAGAAGCCCGGTCACGTTGTCCAGCTCCACCTGCACCGGGCGGGGAGACACAAAGGACCATGGACCCACCCCCACTGCTCCTGCCCCACCTCATCTCCTTTAGGTAAAGCTGGACCTGAGTCACAAGCTGAACCATGAGGGTCTGAGGAGCCAGTTTGAGAAGAGAGAGAGACAGAGAGCACACATGCACCTGGGGACCTGGGCCACAACTGCTGCTAGGGCCCACTGCCCGCGCCAGGGTCCTGGCGGAGGCCTCACCTGCAGCTTGGTGACCTTGTCGGCCAGCTCTGTGCGCACGCGCTCTCCCTCGTTGAACTTGACCTGCAGCTCCTGCAGCTGCGCCTCCACTTTCTTGCGCTTGTGCTCCGAGTCCCCTTTGCCCTGCAGCAGCACCTTCACCTCGTTGGCCAGCTCCCCCCGCTCGTTCTCCAGAGTCTGCTTTGCCTTCTCGAGGTTTGCTTTCACCTAGCAGGGAAGAAAGCAAAGACGTGAGTGGGGGCCTCCTGACACAAGGCTGGCTGGTCTATCATCACTGGACCCTAGATCCAGACATCGCTGCTTCTGCAGCCCTGACGACGGTGTGCCTGCGTCCTGGACTCAGACGGCTCGGGCCTCATCTGTCCTGTCCTCTTCTCTCTTAGCTGGTGGGTGACACTTGGTTCCTGTCTTCACTGCTTAGGACATCTCACAGCTTCCCCATCTCTAAAATAATACCTGCCCAGCCTTCTGCCCTGGGTAGAGGCCAGGTTCTAGGGCATGGCATTGGTGTTGCAGATGTTAGCAATATTTGTAACGCAATAAGGGGAACTATAATTGTTTGCAGTTAGACTTCCAATAAAGCCTGTCTGAAGTCTGATGTTCAAAGTAACGATGTAATGTTTTCACCCTCAAATAATCACGAGACAGACATACCATAATCCTCCCTTATGAACAGGGAAACTGAGGCACGAGTCACAAAGCCCCTTAGAAGGGGAGCCTGGCCTCAGAACCAGGCAGTTGGGTAGAACCCTGCAACTGCTCTGCAGGACTGGTTTGGATTCTGTGGGCCCAGCACGGGGAACCCTGCCCTCCCCCTGCGGTCTCAGGGAGGCTCCGCACCCGCTTCGTCTGCTCCAGCTGCTCCGCCAGCTCCTCCACGGCCTGTGAGTGCTTCTGCCTCATCTCCTGGATCTGGGCCTCGTGGGTCTTGGCCTCCTCCTCCAGGGTCTTCTTCAGGATGTTCACCTCCTGCTCACGTTTTGACCTGGACAGAGAAATCCCCTCAGAGTGGAGGCCGGGGATGCTGGAGCGAGGCTGTCCCTGGGGCTCTTCCCTGACCAAAGAGAGGCCTGGCCAGGGCACAGGCACTCCAGGCAGCTTTTCTACCCACCGGCCCCTCCTAGCCATCTATCCCATAGCCCAGGCTCAAATACGCCCTGTGAGAGCTTCTGTAGCCTTTCAGCTTTAAAGCCCAGCCTTGCCTCACCCCCAACTTTGAGCCAGGTCCTTCAACAGACTTTCTACTCTGTAGAGAGAAACCGCTGAGGAACCAGCAGCTTCCATGCCTGCTGGTGCCTAAGAGGGCCACGGTGTGTGTGTGTGTGTGTGTGCAGAGGCCCGGGGTCCATGTCTCCAAGCCAAGGCCCCCCTGGCTGCCCTCCCCATCCCGAGGGACTTGGTCCCAGGGCACACCTGAGCTCCTGCTGGGCAGCTGTGGAATCCAGCGTGTCCTCCAACTCTGTTTTCAGAGCCTCTAGCTCTTCCCCAAGGTCCCGTTTCTGCTTCTCAGCTTTATTCCTGGAAGCACGCTCAGACTCCAGGTCTTCCTGGAGTTCAGAGATCTGAGATTCCAGCTCCCGGATCTTCTTGAGGGCCATGTTCTTCTGGGCAGCTTCCTCTTCCACTCTGCCAAAGCGACCAGCAACATCAGTATAAGGAGAGTTTCACCTCCAAGGAGCAGAGTTTGCAGGACAGGCCTGAGAGAGCTGCAGCAGCCAAAGCTGCCTCCTGTGGTCACAATCATGGCACTTAGGATGGCTCTCAGCAGAAACAACATCTGAGACAACCAGATTGAAGGGCAACACCCCTCTGAGAAGCAGAAAACCTCATAGAGGAATCGTTTCAATTTCCAAAGTAAGATTCACTGCTTCAAATATTTTTAAAAGTCAAATGATGTGTTAAATGGGAAGAAAAGGAAATAAAACGCTACACCACAGGACAACTGCAACTCAGTAAAAATACGAATGTGCTACGGACTTTAGATGGTTATGACAGGTCAACGTAGGTTCACCAATTAGAACAGACACAGCACTGTGGTAGGGGATGTTGACTGCAGGGGAGGCGGTGCGTGAGTGGGGCAGTGGATAGATGGAGAATCTTCTGCTGACTCTTCTGTGAATCTAAAACTACTCTAAAAAATAAAGTCTCTTTCTTTTTTTTTTAAACAGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAATGGCACGATCTTGGCTGACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGTGAGATTACAGTCGTGTGCCACCACACTGGCGAATTTTTTATATTTTTGGTAGGGATGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGGCTTGGCCTCCCAAAGTGCTGGGATCACAGACGTGAGCCAACGTGCCTGGTCAAGTCTTTTTTTTTTTTTTTTTTTTTTTTAAGTGTGCCTATAGCAAGAAATTAGGAAAGGACTATTGTAGGTGGGTGATAGAGCTGTGGATGACTTTTTTTCAAATTATAAACAAACAAAAGACAAATGAGGCCCCTCACCATGCCCTGAGTGCACAAGAACTGTTTTGCTATGAAATAAATGGCTCTTTTAAGACAACAGTGGAAAGAATGCTCACAGCTCACTAGTGCCGAGAACTAGGGCCAGCAGCAAGCAGGAAGGGCTGGCCCAGGCCACCTGGCCTCAGGCGGGCAGGCGGGGTCCTCACCTGGCCAGGGCGGCCTGGAGCTCCTCCTCTTTCTTGGCCAGCTGCATCTTGAGCTCCGCGATCTGGGCCTGGAGCTCGGCGATCTGGTCGCTGAGGTCTGTGGAGTCTCCCTCCAGCTTCCGGCGGGTCTTCTCCAGCTCCTGTCGCTGCTTCTCCTCCCTGCGGAGGCGCTCTGCAATGCAGGGGGAGCCCACATAGCCCTCAGTGCCATGGGTTCTGTCTCCGTGTCAATTACTTATACAAAATACTGAGCACTCGTTATGAAACGTGTGTC
GCACAGGGACTGCCACCACCATGGCTTGCTGCCTACATCCATAATGGAAGCAATGCTGAATTTCAGCTAAAGACTGGTGAAAATAAAGGTGTAAAATAGTGAAAATAGTGGTGTCCCCCATCTAAGTCCACAGATCCCTGGATTCCTTTCCTTGAGAGCACTGATGTGGGAGAGCACGGTTGGCTTCCCAGGGGGAGAGCAGCAATGGGCCGGCCCAGCGGGCAGGGCTGTCCTGCAGTGCCCAGGCCAGTGCCCGGCCAGCAGCTCCCCAGCCTGCAGAGTCCGGCCGGTCCCCCAGGCCTCCAAACCTGGGCATGGAGGGTGGCGATCTGCTTCTCCAGGTTGTGCTTGGCCTCCTCCTCCTCCTCCAGCTGCTCCCGGAAGGAATTCTTCTCGTCCTCCACCTGCTTGAGCTTGGTGCTCAGGCTCAGCTTCTGCCGGTTCTCCTCCTGCAGCAGCTCCTACTCGCGGGTTGAGAGGGGTGCGGGTGCTTAGGAGGGTGGTGTCCAAAACCCAGGAACCCCACACCCTTGAGGAGAGGGAGGAGCTGGTCCTGCTGATTTAGGGGATGGCCACGTAAAGACCTGGAGGGAGCTGGGAGGACGCAGAGACCCACCCACAGGATGAAGCAGATGAAGGAGAGGATGGGCAATCCGATGGGCTCTGAAGCTAATGTTGCGTGGACACAGAGGCCTTTCTGGAGGGGTCCACCTTCTGGGAACCTGGCGCCACCCCTACCTGAGTGTCCTGCAGCTGGGACTCCAGCGCGGAGAAGTCCTTGGTGAGCTTGCTGGACTTGCTGTCGGACTGGCTGAGAAGCCCGGTCACGTTGTCCAGCTCCACCTGCACCGGGCGGGGAGACACAAAGGACCATGGACCCACCCCCACTGCTCCTGCCCCACCTCATCTCCTTTAGGTAAAGCTGGACCTGAGTCACAAGCTGAACCATGAGGGTCTGAGGAGCCAGTTTGAGAAGAGAGAGAGACAGAGAGCACACATGCACCTGGGGACCTGGGCCACAACTGCTGCTAGGGCCCACTGCCCGCGCCAGGGTCCTGGCGGAGGCCTCACCTGCAGCTTGGTGACCTTGTCGGCCAGCTCTGTGCGCACGCGCTCTCCCTCGTTGAACTTGACCTGCAGCTCCTGCAGCTGCGCCTCCACTTTCTTGCGCTTGTGCTCCGAGTCCCCTTTGCCCTGCAGCAGCACCTTCACCTCGTTGGCCAGCTCCCCCCGCTCGTTCTCCAGAGTCTGCTTTGCCTTCTCGAGGTTTGCTTTCACCTAGCAGGGAAGAAAGCAAAGACGTGAGTGGGGGCCTCCTGACACAAGGCTGGCTGGTCTATCATCACTGGACCCTAGATCCAGACATCGCTGCTTCTGCAGCCCTGACGACGGTGTGCCTGCGTCCTGGACTCAGACGGCTCGGGCCTCATCTGTCCTGTCCTCTTCTCTCTTAGCTGGTGGGTGACACTTGGTTCCTGTCTTCACTGCTTAGGACATCTCACAGCTTCCCCATCTCTAAAATAATACCTGCCCAGCCTTCTGCCCTGGGTAGAGGCCAGGTTCTAGGGCATGGCATTGGTGTTGCAGATGTTAGCAATATTTGTAACGCAATAAGGGGAACTATAATTGTTTGCAGTTAGACTTCCAATAAAGCCTGTCTGAAGTCTGATGTTCAAAGTAACGATGTAATGTTTTCACCCTCAAATAATCACGAGACAGACATACCATAATCCTCCCTTATGAACAGGGAAACTGAGGCACGAGTCACAAAGCCCCTTAGAAGGGGAGCCTGGCCTCAGAACCAGGCAGTTGGGTAGAACCCTGCAACTGCTCTGCAGGACTGGTTTGGATTCTGTGGGCCCAGCACGGGGAACCCTGCCCTCCCCCTGCGGTCTCAGGGAGGCTCCGCACCCGCTTCGTCTGCTCCAGCTGCTCCGCCAGCTCCTCCACGGCCTGTGAGTGCTTCTGCCTCATCTCCTGGATCTGGGCCTCGTGGGTCTTGGCCTCCTCCTCCAGGGTCTTCTTCAGGATGTTCACCTCCTGCTCACATTTTGACCTGGACAGAGAAATCCCCTCAGAGTGGAGGCCGGGGATGCTGGAGCGAGGCTGTCCCTGGGGCTCTTCCCTGACCAAAGAGAGGCCTGGCCAGGGCACAGGCACTCCAGGCAGCTTTTCTACCCACCGGCCCCTCCTAGCCATCTATCCCATAGCCCAGGCTCAAATACGCCCTGTGAGAGCTTCTGTAGCCTTTCAGCTTTAAAGCCCAGCCTTGCCTCACCCCCAACTTTGAGCCAGGTCCTTCAACAGACTTTCTACTCTGTAGAGAGAAACCGCTGAGGAACCAGCAGCTTCCATGCCTGCTGGTGCCTAAGAGGGCCACGGTGTGTGTGTGTGTGTGTGTGCAGAGGCCCGGGGTCCATGTCTCCAAGCCAAGGCCCCCCTGGCTGCCCTCCCCATCCCGAGGGACTTGGTCCCAGGGCACACCTGAGCTCCTGCTGGGCAGCTGTGGAATCCAGCGTGTCCTCCAACTCTGTTTTCAGAGCCTCTAGCTCTTCCCCAAGGTCCCGTTTCTGCTTCTCAGCTTTATTCCTGGAAGCACGCTCAGACTCCAGGTCTTCCTGGAGTTCAGAGATCTGAGATTCCAGCTCCCGGATCTTCTTGAGGGCCATGTTCTTCTGGGCAGCTTCCTCTTCCACTCTGCCAAAGCGACCAGCAACATCAGTATAAGGAGAGTTTCACCTCCAAGGAGCAGAGTTTGCAGGACAGGCCTGAGAGAGCTGCAGCAGCCAAAGCTGCCTCCTGTGGTCACAATCATGGCACTTAGGATGGCTCTCAGCAGAAACAACATCTGAGACAACCAGATTGAAGGGCAACACCCCTCTGAGAAGCAGAAAACCTCATAGAGGAATCGTTTCAATTTCCAAAGTAAGATTCACTGCTTCAAATATTTTTAAAAGTCAAATGATGTGTTAAATGGGAAGAAAAGGAAATAAAACGCTACACCACAGGACAACTGCAACTCAGTAAAAATACGAATGTGCTACGGACTTTAGATGGTTATGACAGGTCAACGTAGGTTCACCAATTAGAACAGACACAGCACTGTGGTAGGGGATGTTGACTGCAGGGGAGGCGGTGCGTGAGTGGGGCAGTGGATAGATGGAGAATCTTCTGCTGACTCTTCTGTGAATCTAAAACTACTCTAAAAAATAAAGTCTCTTTCTTTTTTTTTTAAACAGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAATGGCACGATCTTGGCTGACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGTGAGATTACAGTCGTGTGCCACCACACTGGCGAATTTTTTATATTTTTGGTAGGGATGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGGCTTGGCCTCCCAAAGTGCTGGGATCACAGACGTGAGCCAACGTGCCTGGTCAAGTCTTTTTTTTTTTTTTTTTTTTTTTTAAGTGTGCCTATAGCAAGAAATTAGGAAAGGACTATTGTAGGTGGGTGATAGAGCTGTGGATGACTTTTTTTCAAATTATAAACAAACAAAAGACAAATGAGGCCCCTCACCATGCCCTGAGTGCACAAGAACTGTTTTGCTATGAAATAAATGGCTCTTTTAAGACAACAGTGGAAAGAATGCTCACAGCTCACTAGTGCCGAGAACTAGGGCCAGCAGCAAGCAGGAAGGGCTGGCCCAGGCCACCTGGCCTCAGGCGGGCAGGCGGGGTCCTCACCTGGCCAGGGCGGCCTGGAGCTCCTCCTCTTTCTTGGCCAGCTGCATCTTGAGCTCCGCGATCTGGGCCTGGAGCTCGGCGATCTGGTCGCTGAGGTCTGTGGAGTCTCCCTCCAGCTTCCGGCGGGTCTTCTCCAGCTCCTGTCGCTGCTTCTCCTCCCTGCGGAGGCGCTCTGCAATGCAGGGGGAGCCCACATAGCCCTCAGTGCCATGGGTTCTGTCTCCGTGTCAATTACTTATACAAAATACTGAGCACTCGTTATGAAACGTGTGTC
Task1_train_28750
The following genetic variant occurs in MYH9 (myosin heavy chain 9) on Chromosome 22. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; not provided
GCTCCTACTCGCGGGTTGAGAGGGGTGCGGGTGCTTAGGAGGGTGGTGTCCAAAACCCAGGAACCCCACACCCTTGAGGAGAGGGAGGAGCTGGTCCTGCTGATTTAGGGGATGGCCACGTAAAGACCTGGAGGGAGCTGGGAGGACGCAGAGACCCACCCACAGGATGAAGCAGATGAAGGAGAGGATGGGCAATCCGATGGGCTCTGAAGCTAATGTTGCGTGGACACAGAGGCCTTTCTGGAGGGGTCCACCTTCTGGGAACCTGGCGCCACCCCTACCTGAGTGTCCTGCAGCTGGGACTCCAGCGCGGAGAAGTCCTTGGTGAGCTTGCTGGACTTGCTGTCGGACTGGCTGAGAAGCCCGGTCACGTTGTCCAGCTCCACCTGCACCGGGCGGGGAGACACAAAGGACCATGGACCCACCCCCACTGCTCCTGCCCCACCTCATCTCCTTTAGGTAAAGCTGGACCTGAGTCACAAGCTGAACCATGAGGGTCTGAGGAGCCAGTTTGAGAAGAGAGAGAGACAGAGAGCACACATGCACCTGGGGACCTGGGCCACAACTGCTGCTAGGGCCCACTGCCCGCGCCAGGGTCCTGGCGGAGGCCTCACCTGCAGCTTGGTGACCTTGTCGGCCAGCTCTGTGCGCACGCGCTCTCCCTCGTTGAACTTGACCTGCAGCTCCTGCAGCTGCGCCTCCACTTTCTTGCGCTTGTGCTCCGAGTCCCCTTTGCCCTGCAGCAGCACCTTCACCTCGTTGGCCAGCTCCCCCCGCTCGTTCTCCAGAGTCTGCTTTGCCTTCTCGAGGTTTGCTTTCACCTAGCAGGGAAGAAAGCAAAGACGTGAGTGGGGGCCTCCTGACACAAGGCTGGCTGGTCTATCATCACTGGACCCTAGATCCAGACATCGCTGCTTCTGCAGCCCTGACGACGGTGTGCCTGCGTCCTGGACTCAGACGGCTCGGGCCTCATCTGTCCTGTCCTCTTCTCTCTTAGCTGGTGGGTGACACTTGGTTCCTGTCTTCACTGCTTAGGACATCTCACAGCTTCCCCATCTCTAAAATAATACCTGCCCAGCCTTCTGCCCTGGGTAGAGGCCAGGTTCTAGGGCATGGCATTGGTGTTGCAGATGTTAGCAATATTTGTAACGCAATAAGGGGAACTATAATTGTTTGCAGTTAGACTTCCAATAAAGCCTGTCTGAAGTCTGATGTTCAAAGTAACGATGTAATGTTTTCACCCTCAAATAATCACGAGACAGACATACCATAATCCTCCCTTATGAACAGGGAAACTGAGGCACGAGTCACAAAGCCCCTTAGAAGGGGAGCCTGGCCTCAGAACCAGGCAGTTGGGTAGAACCCTGCAACTGCTCTGCAGGACTGGTTTGGATTCTGTGGGCCCAGCACGGGGAACCCTGCCCTCCCCCTGCGGTCTCAGGGAGGCTCCGCACCCGCTTCGTCTGCTCCAGCTGCTCCGCCAGCTCCTCCACGGCCTGTGAGTGCTTCTGCCTCATCTCCTGGATCTGGGCCTCGTGGGTCTTGGCCTCCTCCTCCAGGGTCTTCTTCAGGATGTTCACCTCCTGCTCACGTTTTGACCTGGACAGAGAAATCCCCTCAGAGTGGAGGCCGGGGATGCTGGAGCGAGGCTGTCCCTGGGGCTCTTCCCTGACCAAAGAGAGGCCTGGCCAGGGCACAGGCACTCCAGGCAGCTTTTCTACCCACCGGCCCCTCCTAGCCATCTATCCCATAGCCCAGGCTCAAATACGCCCTGTGAGAGCTTCTGTAGCCTTTCAGCTTTAAAGCCCAGCCTTGCCTCACCCCCAACTTTGAGCCAGGTCCTTCAACAGACTTTCTACTCTGTAGAGAGAAACCGCTGAGGAACCAGCAGCTTCCATGCCTGCTGGTGCCTAAGAGGGCCACGGTGTGTGTGTGTGTGTGTGTGCAGAGGCCCGGGGTCCATGTCTCCAAGCCAAGGCCCCCCTGGCTGCCCTCCCCATCCCGAGGGACTTGGTCCCAGGGCACACCTGAGCTCCTGCTGGGCAGCTGTGGAATCCAGCGTGTCCTCCAACTCTGTTTTCAGAGCCTCTAGCTCTTCCCCAAGGTCCCGTTTCTGCTTCTCAGCTTTATTCCTGGAAGCACGCTCAGACTCCAGGTCTTCCTGGAGTTCAGAGATCTGAGATTCCAGCTCCCGGATCTTCTTGAGGGCCATGTTCTTCTGGGCAGCTTCCTCTTCCACTCTGCCAAAGCGACCAGCAACATCAGTATAAGGAGAGTTTCACCTCCAAGGAGCAGAGTTTGCAGGACAGGCCTGAGAGAGCTGCAGCAGCCAAAGCTGCCTCCTGTGGTCACAATCATGGCACTTAGGATGGCTCTCAGCAGAAACAACATCTGAGACAACCAGATTGAAGGGCAACACCCCTCTGAGAAGCAGAAAACCTCATAGAGGAATCGTTTCAATTTCCAAAGTAAGATTCACTGCTTCAAATATTTTTAAAAGTCAAATGATGTGTTAAATGGGAAGAAAAGGAAATAAAACGCTACACCACAGGACAACTGCAACTCAGTAAAAATACGAATGTGCTACGGACTTTAGATGGTTATGACAGGTCAACGTAGGTTCACCAATTAGAACAGACACAGCACTGTGGTAGGGGATGTTGACTGCAGGGGAGGCGGTGCGTGAGTGGGGCAGTGGATAGATGGAGAATCTTCTGCTGACTCTTCTGTGAATCTAAAACTACTCTAAAAAATAAAGTCTCTTTCTTTTTTTTTTAAACAGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAATGGCACGATCTTGGCTGACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGTGAGATTACAGTCGTGTGCCACCACACTGGCGAATTTTTTATATTTTTGGTAGGGATGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGGCTTGGCCTCCCAAAGTGCTGGGATCACAGACGTGAGCCAACGTGCCTGGTCAAGTCTTTTTTTTTTTTTTTTTTTTTTTTAAGTGTGCCTATAGCAAGAAATTAGGAAAGGACTATTGTAGGTGGGTGATAGAGCTGTGGATGACTTTTTTTCAAATTATAAACAAACAAAAGACAAATGAGGCCCCTCACCATGCCCTGAGTGCACAAGAACTGTTTTGCTATGAAATAAATGGCTCTTTTAAGACAACAGTGGAAAGAATGCTCACAGCTCACTAGTGCCGAGAACTAGGGCCAGCAGCAAGCAGGAAGGGCTGGCCCAGGCCACCTGGCCTCAGGCGGGCAGGCGGGGTCCTCACCTGGCCAGGGCGGCCTGGAGCTCCTCCTCTTTCTTGGCCAGCTGCATCTTGAGCTCCGCGATCTGGGCCTGGAGCTCGGCGATCTGGTCGCTGAGGTCTGTGGAGTCTCCCTCCAGCTTCCGGCGGGTCTTCTCCAGCTCCTGTCGCTGCTTCTCCTCCCTGCGGAGGCGCTCTGCAATGCAGGGGGAGCCCACATAGCCCTCAGTGCCATGGGTTCTGTCTCCGTGTCAATTACTTATACAAAATACTGAGCACTCGTTATGAAACGTGTGTCAGGCTTAAAGCATCACAAACACACAGACACTCGCACCCAACTCCTGGATGCAGGAAGAGGACATCACTGCAAACTGCTAGCCCCTGGCATGTCTCTCTCCAACTCACCCCTTGTCCTTCCCTGCCAGGAATTAAGTACTCTCCTAAAGCTGGTGTTTGTAATTCCCTTGGTTCCCTTGAAGGCTGTACCATGTCTGTATCTCTAAAAAACATGTTCAATTGTGTGTGAATCTGAACTTATATAATGGAACTGCCTTGTGTGAATTCCACAGTTGGAATCGCACGGTCAGGGCTCTATGTCTAGCTTTATAACTCTGTGATGTCACTTGGGAAAGCTACTTTCTATACCTCATCTGAATAATAAGCAAAAGGAGACAGCCTACTTCATTAGGATGCTGTGAGGCGCCAATGAGTTACTATCTTAAAAAGCACCTAGAACAGTGCCTGCCTCGTGATGG
GCTCCTACTCGCGGGTTGAGAGGGGTGCGGGTGCTTAGGAGGGTGGTGTCCAAAACCCAGGAACCCCACACCCTTGAGGAGAGGGAGGAGCTGGTCCTGCTGATTTAGGGGATGGCCACGTAAAGACCTGGAGGGAGCTGGGAGGACGCAGAGACCCACCCACAGGATGAAGCAGATGAAGGAGAGGATGGGCAATCCGATGGGCTCTGAAGCTAATGTTGCGTGGACACAGAGGCCTTTCTGGAGGGGTCCACCTTCTGGGAACCTGGCGCCACCCCTACCTGAGTGTCCTGCAGCTGGGACTCCAGCGCGGAGAAGTCCTTGGTGAGCTTGCTGGACTTGCTGTCGGACTGGCTGAGAAGCCCGGTCACGTTGTCCAGCTCCACCTGCACCGGGCGGGGAGACACAAAGGACCATGGACCCACCCCCACTGCTCCTGCCCCACCTCATCTCCTTTAGGTAAAGCTGGACCTGAGTCACAAGCTGAACCATGAGGGTCTGAGGAGCCAGTTTGAGAAGAGAGAGAGACAGAGAGCACACATGCACCTGGGGACCTGGGCCACAACTGCTGCTAGGGCCCACTGCCCGCGCCAGGGTCCTGGCGGAGGCCTCACCTGCAGCTTGGTGACCTTGTCGGCCAGCTCTGTGCGCACGCGCTCTCCCTCGTTGAACTTGACCTGCAGCTCCTGCAGCTGCGCCTCCACTTTCTTGCGCTTGTGCTCCGAGTCCCCTTTGCCCTGCAGCAGCACCTTCACCTCGTTGGCCAGCTCCCCCCGCTCGTTCTCCAGAGTCTGCTTTGCCTTCTCGAGGTTTGCTTTCACCTAGCAGGGAAGAAAGCAAAGACGTGAGTGGGGGCCTCCTGACACAAGGCTGGCTGGTCTATCATCACTGGACCCTAGATCCAGACATCGCTGCTTCTGCAGCCCTGACGACGGTGTGCCTGCGTCCTGGACTCAGACGGCTCGGGCCTCATCTGTCCTGTCCTCTTCTCTCTTAGCTGGTGGGTGACACTTGGTTCCTGTCTTCACTGCTTAGGACATCTCACAGCTTCCCCATCTCTAAAATAATACCTGCCCAGCCTTCTGCCCTGGGTAGAGGCCAGGTTCTAGGGCATGGCATTGGTGTTGCAGATGTTAGCAATATTTGTAACGCAATAAGGGGAACTATAATTGTTTGCAGTTAGACTTCCAATAAAGCCTGTCTGAAGTCTGATGTTCAAAGTAACGATGTAATGTTTTCACCCTCAAATAATCACGAGACAGACATACCATAATCCTCCCTTATGAACAGGGAAACTGAGGCACGAGTCACAAAGCCCCTTAGAAGGGGAGCCTGGCCTCAGAACCAGGCAGTTGGGTAGAACCCTGCAACTGCTCTGCAGGACTGGTTTGGATTCTGTGGGCCCAGCACGGGGAACCCTGCCCTCCCCCTGCGGTCTCAGGGAGGCTCCGCACCCGCTTCGTCTGCTCCAGCTGCTCCGCCAGCTCCTCCACGGCCTGTGAGTGCTTCTGCCTCATCTCCTGGATCTGGGCCTCGTGGGTCTTGGCCTCCTCCTCCAGGGTCTTCTTCAGGATGTTCACCTCCTGCTCACGTTTTGACCTGGACAGAGAAATCCCCTCAGAGTGGAGGCCGGGGATGCTGGAGCGAGGCTGTCCCTGGGGCTCTTCCCTGACCAAAGAGAGGCCTGGCCAGGGCACAGGCACTCCAGGCAGCTTTTCTACCCACCGGCCCCTCCTAGCCATCTATCCCATAGCCCAGGCTCAAATACGCCCTGTGAGAGCTTCTGTAGCCTTTCAGCTTTAAAGCCCAGCCTTGCCTCACCCCCAACTTTGAGCCAGGTCCTTCAACAGACTTTCTACTCTGTAGAGAGAAACCGCTGAGGAACCAGCAGCTTCCATGCCTGCTGGTGCCTAAGAGGGCCACGGTGTGTGTGTGTGTGTGTGTGCAGAGGCCCGGGGTCCATGTCTCCAAGCCAAGGCCCCCCTGGCTGCCCTCCCCATCCCGAGGGACTTGGTCCCAGGGCACACCTGAGCTCCTGCTGGGCAGCTATGGAATCCAGCGTGTCCTCCAACTCTGTTTTCAGAGCCTCTAGCTCTTCCCCAAGGTCCCGTTTCTGCTTCTCAGCTTTATTCCTGGAAGCACGCTCAGACTCCAGGTCTTCCTGGAGTTCAGAGATCTGAGATTCCAGCTCCCGGATCTTCTTGAGGGCCATGTTCTTCTGGGCAGCTTCCTCTTCCACTCTGCCAAAGCGACCAGCAACATCAGTATAAGGAGAGTTTCACCTCCAAGGAGCAGAGTTTGCAGGACAGGCCTGAGAGAGCTGCAGCAGCCAAAGCTGCCTCCTGTGGTCACAATCATGGCACTTAGGATGGCTCTCAGCAGAAACAACATCTGAGACAACCAGATTGAAGGGCAACACCCCTCTGAGAAGCAGAAAACCTCATAGAGGAATCGTTTCAATTTCCAAAGTAAGATTCACTGCTTCAAATATTTTTAAAAGTCAAATGATGTGTTAAATGGGAAGAAAAGGAAATAAAACGCTACACCACAGGACAACTGCAACTCAGTAAAAATACGAATGTGCTACGGACTTTAGATGGTTATGACAGGTCAACGTAGGTTCACCAATTAGAACAGACACAGCACTGTGGTAGGGGATGTTGACTGCAGGGGAGGCGGTGCGTGAGTGGGGCAGTGGATAGATGGAGAATCTTCTGCTGACTCTTCTGTGAATCTAAAACTACTCTAAAAAATAAAGTCTCTTTCTTTTTTTTTTAAACAGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAATGGCACGATCTTGGCTGACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGTGAGATTACAGTCGTGTGCCACCACACTGGCGAATTTTTTATATTTTTGGTAGGGATGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGGCTTGGCCTCCCAAAGTGCTGGGATCACAGACGTGAGCCAACGTGCCTGGTCAAGTCTTTTTTTTTTTTTTTTTTTTTTTTAAGTGTGCCTATAGCAAGAAATTAGGAAAGGACTATTGTAGGTGGGTGATAGAGCTGTGGATGACTTTTTTTCAAATTATAAACAAACAAAAGACAAATGAGGCCCCTCACCATGCCCTGAGTGCACAAGAACTGTTTTGCTATGAAATAAATGGCTCTTTTAAGACAACAGTGGAAAGAATGCTCACAGCTCACTAGTGCCGAGAACTAGGGCCAGCAGCAAGCAGGAAGGGCTGGCCCAGGCCACCTGGCCTCAGGCGGGCAGGCGGGGTCCTCACCTGGCCAGGGCGGCCTGGAGCTCCTCCTCTTTCTTGGCCAGCTGCATCTTGAGCTCCGCGATCTGGGCCTGGAGCTCGGCGATCTGGTCGCTGAGGTCTGTGGAGTCTCCCTCCAGCTTCCGGCGGGTCTTCTCCAGCTCCTGTCGCTGCTTCTCCTCCCTGCGGAGGCGCTCTGCAATGCAGGGGGAGCCCACATAGCCCTCAGTGCCATGGGTTCTGTCTCCGTGTCAATTACTTATACAAAATACTGAGCACTCGTTATGAAACGTGTGTCAGGCTTAAAGCATCACAAACACACAGACACTCGCACCCAACTCCTGGATGCAGGAAGAGGACATCACTGCAAACTGCTAGCCCCTGGCATGTCTCTCTCCAACTCACCCCTTGTCCTTCCCTGCCAGGAATTAAGTACTCTCCTAAAGCTGGTGTTTGTAATTCCCTTGGTTCCCTTGAAGGCTGTACCATGTCTGTATCTCTAAAAAACATGTTCAATTGTGTGTGAATCTGAACTTATATAATGGAACTGCCTTGTGTGAATTCCACAGTTGGAATCGCACGGTCAGGGCTCTATGTCTAGCTTTATAACTCTGTGATGTCACTTGGGAAAGCTACTTTCTATACCTCATCTGAATAATAAGCAAAAGGAGACAGCCTACTTCATTAGGATGCTGTGAGGCGCCAATGAGTTACTATCTTAAAAAGCACCTAGAACAGTGCCTGCCTCGTGATGG
Task1_train_28751
A variant has been detected on Chromosome 22 in MYH9 (myosin heavy chain 9). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Autosomal dominant nonsyndromic hearing loss 17
CAACAGAAGGGCGTGGCAAGGCCTGGCATGCGGGGCAGGAGTATCTCCCGGGACTCACTTCCTGGCCAGGTAGCCCCTGCAGCAGGCCTGGAACCCTATGATGACGTCGGTGATCTTCAGGTCTCGCTCCTCCTCCAGGTGGGCCAGCACACCGGCACGGAAGAAGACTTTGCTCTGGCCAATGCGGTACAGATTGCTGTCGAGCTCCAGGGCTTTTATCTAGGTGGGAGGAGCAGGCCGTTTACCTGGCCAGCAACTGGCCACAGCTCCATGAAAGGGTGGCCCAGGCACAGCTGGAGGTGTGCCCTTCACCCTTCTTCTCACTGGCTGACGAGCATCTGGAGAGCAGAAAGCCATCTCCTCTCCCTCCTTCTTCCTGTTCCCTATCTCCCCGTCACCGAACGCAGGCTGTGCACACAGTAGGTGTTGAATTTTTCCTTCTCTTTTCCTCCCACCAACTCCCTACTCTGCAGCCAAAGCTTTCTGATTCTTTAGAAAGAACGTGAAGTAAAACAAGGCCAAAGGTAGCAGCTGCTAACCTGGACACGCCAGAAACAACAGGATGCTGGGAAGGGGAAAAAAGGAGCAGGGTGGGATTCAGCCCTGGCTTGGCACTGAGTCACCGCAGGGCTTTCAATCAACCGGAACTCAGAGCATGCGCACAGCCCGTCCAGCACTGCGCTAGGGCTGGGAGTGGGGAGGGAGGGAGGAGAAGCCCAGGTCACGGAGCACCAGGCCTGCTGCCCTGGCTGTGAGCTGCCCTGCTCACCACACTGGATGTGGAGTCAGGCCCGTGAGCAAGAAAGCAGGAGAATGTCCCCCAAACCAAAGAGGCCATCATCTTACATCAGAGCCCGGCCATGGCTACAGTTCTTGTCTCCTCCACACAACCCTGGTGCCAAACACCATCCCTGGCTATCTGAGGCCTAGGGGCTACTGCAAAGGGCGCCCGGCAGAGTCAGACGCGGAGCATCAGAAGGGACACAGCCTGGGCATCCACCGACCACTGATATAGCAAGGTGGGCCCTGGCCACGTGGGCACTCCCCAGACAAGGGGCTGCCCATCCAGAGAGGCAGGGACAGCAGCTCAACTCACCATGAGCACGCACGCCTGCTTCCCGTCCATGAAACCCTTGGGAATGGAGTTTGGAGTCAGGATCTCATATCTGAGGAAGGAAAGAGAAGCCTGGTCATTTTACCCATTGCCTCGATTCCACATGCCTGGAATATAGGCGAGAGATTAACATCATTTCTACAATGCAACAGACACAGAATTCTTTACACAAACTCTCCTAAGGAAAGAAGACACAGGCAAATCCCACCCCACTCTTTTCTTCGGCTGAATGAGACAAGGAAGCCTTGGTGTTTTCCGGAAAGTGAATGGAAACTCGTGTAGGACCGTTTCAATCACTCAAGGGCGTGCTTCAGGTTGGACTAAGTGCTAATTGCCTGAGATCCTCATCTGTCACCCAGGGACAGCCATGTTCACACAGCTTCCCTGGGACGCTGCAGGGAGCTGCTAATAAACAGAGATGGCCCAAGAAATAAAGGGCTGCGTCCCGACAGCAACTGACACTCAGCACAGTCATTAGAGAAACAGGAAGGTGTCGCCGTCTTCGCACACAGCAACGCACGGCCGTGTTTCATTTCCACAAAGTTCCTGTAATATCCTAGGTCTCTGGCTGATTCTTTTACATTTCTTTTCATAGCTCCTCTAACTGTAGCAAATAGCACCAGGGCCGGCAGTTACTAGGAGCAAAAGTCAACAGGATGATGATGACCTGCATTTCGGTATTAAAATGGGGAAGTCTCCTTTCCTGCAAAGGGTGGAAAAGAGAAGGAGGTGGGGAAGAGCTGGCCAGACTCAGTTCTACATGGATGGAGGACGTCGCTCCCTCACGACAGGATCCTGCCAGGGAGCAGCAGCCCACCTCTGGGACTCACTGCACGCACAGCAGGGCCCAGGAGAAGCGGGCTCCGGGCCCTGGCTCACCTCTGCCGAAACTCCTGGAAGACCACCCTGTTGGGGAAGCCCTGGCGGCAGATACGGATGCCCTCGAGAACACCGTTGCAGCGCAGCTGGTCCAGCACGAGATGCGGGTCCAGCTTGCCGGCCTGGAGAAGAAAACACATGCATGCGGTCTCACTTCCGTGCCTAGAACAGTCGGAGAATAGTCAGGGAACCCCTATGAACCTGACAGGGCAAGAGCCTAAGGGAGGGGGTCGCTACAGCCCACAGGTTTGGACAATGAAGTCAAAGGATCCAGGTCTGGGAGGGGCCAATGCCACCAAGAGGAAGTGCAGGCTGTGAATGTAGCGTATCTCCTAAGCGAGCCAAGGCCCACCCTGCAGAGAAACGACTGAAGGCTCTGTGCATGCTGGGGGGCTGGAGGGGTGCTTTTGCTGGGGAGACAGACAAGGGCTGAGCACCCCACACCACAGTGCCCTGCCCGGGCCACCCCACCAGGCAGCCGCACCTTCTTCTCGTGGTTGGGGATGATGCAGCGGACAAAGTTGGGGTTCGTGTTCCTCAGCGTAGCCATCAGCTTGGCCAGCTGCTCCTTGTAAAGCTGCCCCACAGTGCGGAACATGCCCTTCCGCGTCTTGAAGGCCCCGGGCAGTGCGGTCTCCGACATGCCGGCCACCTGGTCCAGGCCGATGATGCGGTCCACTGTGGAGACCACAGAGAACACGTGAGTGCCCACACAGTTGCAGCTGGGTGGTGGGGGAGCACGTAGGAGAGAGAGACAGGCACACGTCGGACAGGAAAAGAGGAGACAGAATGAAACAACAGGACCCTTTCCAATTGGAGCCTACACTGGGTGCTAAGGTCATCCCCAAACACAGCGGGAAGCCAAGGGGGATGCAAAGGCACTGGGCTTGTCTCTTGGGGAGCCATGCATCTGCCATGGCCACCTCACCTTCCTGTCACCTATCTTCAGCCACTCTCGAAGCTCTTATTTCCAAAAAGACTCAATGAAGCTAGTCATGTATTTTGGAATAGTGAGAATTCTACTAGCCTGGCTCTAACGAGGGGTGTGAAAACCTGGCTTACGGAATCCTGCTGTCCTATGGTCACAGTTAGAAAAAAAAAAAATCAGTATCTTGAATTCTCACTGACCCTGTCATAAGAGCACTCGGCTGGGAGTCAGGAGGCAGAGCTTGGGGCCACCCTGTCACTGTCTGCAGAACCTTGCAGGGTCCCCTCTATATCTACGCAGACATCTCAGGAAGGGAGAGCTCCAAAGAACTGCTCTTGATTATAAATACTCCAAAGTTTAGGGATCTCTTCACGTACTTGTATTTCATTTTGTCTCCTGGTGCACGGGTCTTTCTCATGTAAACCGACCCTCAAGGGAAGCAGCCCCTAGCACTGGAACTCACACCCAGCAGCAATTAAACCAATTGCATCCTCCAAGGTAAAAAACAAACAAACAAGCCAAACCAAAGTGGCCAGCGATTTGAGATCAGTTTAAGCAAGAGCTAATGTTAAATGTGAAGCCTTCTATTACTGGATATAAAAGTGAAGAATACTGACGAAGCCCGTTTCGTATTCCTTCACGGCCAGATTACTATTATTTACTTGAAGACAGCAAAAAGGATGCTTGCTTAAGACAGAAGCCAGGAGTGTGGATGGAGCCTACAAACCAGTCAATTAAAATGGGAGGTGGCTGGGCATGGTGGCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCAGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAGTTAGCTGGGCGTGGTGGCGGGTGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCATGGCACTCCAGCCTGGGTGACAAGAACAAAACTCTGTCTCAAAAAAAAAAAAAAAGGGAGTCATCTTTGACCTTATGTACCCACCACAGGGTCAATATTCCTGGCTACCACAGGTTTCCTGGGCGTGGTAACTTGCAAAAGCCACTCAGGTTGTCCAGAGAAAGGTTAATGTGGCCTCATCATA
CAACAGAAGGGCGTGGCAAGGCCTGGCATGCGGGGCAGGAGTATCTCCCGGGACTCACTTCCTGGCCAGGTAGCCCCTGCAGCAGGCCTGGAACCCTATGATGACGTCGGTGATCTTCAGGTCTCGCTCCTCCTCCAGGTGGGCCAGCACACCGGCACGGAAGAAGACTTTGCTCTGGCCAATGCGGTACAGATTGCTGTCGAGCTCCAGGGCTTTTATCTAGGTGGGAGGAGCAGGCCGTTTACCTGGCCAGCAACTGGCCACAGCTCCATGAAAGGGTGGCCCAGGCACAGCTGGAGGTGTGCCCTTCACCCTTCTTCTCACTGGCTGACGAGCATCTGGAGAGCAGAAAGCCATCTCCTCTCCCTCCTTCTTCCTGTTCCCTATCTCCCCGTCACCGAACGCAGGCTGTGCACACAGTAGGTGTTGAATTTTTCCTTCTCTTTTCCTCCCACCAACTCCCTACTCTGCAGCCAAAGCTTTCTGATTCTTTAGAAAGAACGTGAAGTAAAACAAGGCCAAAGGTAGCAGCTGCTAACCTGGACACGCCAGAAACAACAGGATGCTGGGAAGGGGAAAAAAGGAGCAGGGTGGGATTCAGCCCTGGCTTGGCACTGAGTCACCGCAGGGCTTTCAATCAACCGGAACTCAGAGCATGCGCACAGCCCGTCCAGCACTGCGCTAGGGCTGGGAGTGGGGAGGGAGGGAGGAGAAGCCCAGGTCACGGAGCACCAGGCCTGCTGCCCTGGCTGTGAGCTGCCCTGCTCACCACACTGGATGTGGAGTCAGGCCCGTGAGCAAGAAAGCAGGAGAATGTCCCCCAAACCAAAGAGGCCATCATCTTACATCAGAGCCCGGCCATGGCTACAGTTCTTGTCTCCTCCACACAACCCTGGTGCCAAACACCATCCCTGGCTATCTGAGGCCTAGGGGCTACTGCAAAGGGCGCCCGGCAGAGTCAGACGCGGAGCATCAGAAGGGACACAGCCTGGGCATCCACCGACCACTGATATAGCAAGGTGGGCCCTGGCCACGTGGGCACTCCCCAGACAAGGGGCTGCCCATCCAGAGAGGCAGGGACAGCAGCTCAACTCACCATGAGCACGCACGCCTGCTTCCCGTCCATGAAACCCTTGGGAATGGAGTTTGGAGTCAGGATCTCATATCTGAGGAAGGAAAGAGAAGCCTGGTCATTTTACCCATTGCCTCGATTCCACATGCCTGGAATATAGGCGAGAGATTAACATCATTTCTACAATGCAACAGACACAGAATTCTTTACACAAACTCTCCTAAGGAAAGAAGACACAGGCAAATCCCACCCCACTCTTTTCTTCGGCTGAATGAGACAAGGAAGCCTTGGTGTTTTCCGGAAAGTGAATGGAAACTCGTGTAGGACCGTTTCAATCACTCAAGGGCGTGCTTCAGGTTGGACTAAGTGCTAATTGCCTGAGATCCTCATCTGTCACCCAGGGACAGCCATGTTCACACAGCTTCCCTGGGACGCTGCAGGGAGCTGCTAATAAACAGAGATGGCCCAAGAAATAAAGGGCTGCGTCCCGACAGCAACTGACACTCAGCACAGTCATTAGAGAAACAGGAAGGTGTCGCCGTCTTCGCACACAGCAACGCACGGCCGTGTTTCATTTCCACAAAGTTCCTGTAATATCCTAGGTCTCTGGCTGATTCTTTTACATTTCTTTTCATAGCTCCTCTAACTGTAGCAAATAGCACCAGGGCCGGCAGTTACTAGGAGCAAAAGTCAACAGGATGATGATGACCTGCATTTCGGTATTAAAATGGGGAAGTCTCCTTTCCTGCAAAGGGTGGAAAAGAGAAGGAGGTGGGGAAGAGCTGGCCAGACTCAGTTCTACATGGATGGAGGACGTCGCTCCCTCACGACAGGATCCTGCCAGGGAGCAGCAGCCCACCTCTGGGACTCACTGCACGCACAGCAGGGCCCAGGAGAAGCGGGCTCCGGGCCCTGGCTCACCTCTGCCGAAACTCCTGGAAGACCACCCTGTTGGGGAAGCCCTGGCGGCAGATACAGATGCCCTCGAGAACACCGTTGCAGCGCAGCTGGTCCAGCACGAGATGCGGGTCCAGCTTGCCGGCCTGGAGAAGAAAACACATGCATGCGGTCTCACTTCCGTGCCTAGAACAGTCGGAGAATAGTCAGGGAACCCCTATGAACCTGACAGGGCAAGAGCCTAAGGGAGGGGGTCGCTACAGCCCACAGGTTTGGACAATGAAGTCAAAGGATCCAGGTCTGGGAGGGGCCAATGCCACCAAGAGGAAGTGCAGGCTGTGAATGTAGCGTATCTCCTAAGCGAGCCAAGGCCCACCCTGCAGAGAAACGACTGAAGGCTCTGTGCATGCTGGGGGGCTGGAGGGGTGCTTTTGCTGGGGAGACAGACAAGGGCTGAGCACCCCACACCACAGTGCCCTGCCCGGGCCACCCCACCAGGCAGCCGCACCTTCTTCTCGTGGTTGGGGATGATGCAGCGGACAAAGTTGGGGTTCGTGTTCCTCAGCGTAGCCATCAGCTTGGCCAGCTGCTCCTTGTAAAGCTGCCCCACAGTGCGGAACATGCCCTTCCGCGTCTTGAAGGCCCCGGGCAGTGCGGTCTCCGACATGCCGGCCACCTGGTCCAGGCCGATGATGCGGTCCACTGTGGAGACCACAGAGAACACGTGAGTGCCCACACAGTTGCAGCTGGGTGGTGGGGGAGCACGTAGGAGAGAGAGACAGGCACACGTCGGACAGGAAAAGAGGAGACAGAATGAAACAACAGGACCCTTTCCAATTGGAGCCTACACTGGGTGCTAAGGTCATCCCCAAACACAGCGGGAAGCCAAGGGGGATGCAAAGGCACTGGGCTTGTCTCTTGGGGAGCCATGCATCTGCCATGGCCACCTCACCTTCCTGTCACCTATCTTCAGCCACTCTCGAAGCTCTTATTTCCAAAAAGACTCAATGAAGCTAGTCATGTATTTTGGAATAGTGAGAATTCTACTAGCCTGGCTCTAACGAGGGGTGTGAAAACCTGGCTTACGGAATCCTGCTGTCCTATGGTCACAGTTAGAAAAAAAAAAAATCAGTATCTTGAATTCTCACTGACCCTGTCATAAGAGCACTCGGCTGGGAGTCAGGAGGCAGAGCTTGGGGCCACCCTGTCACTGTCTGCAGAACCTTGCAGGGTCCCCTCTATATCTACGCAGACATCTCAGGAAGGGAGAGCTCCAAAGAACTGCTCTTGATTATAAATACTCCAAAGTTTAGGGATCTCTTCACGTACTTGTATTTCATTTTGTCTCCTGGTGCACGGGTCTTTCTCATGTAAACCGACCCTCAAGGGAAGCAGCCCCTAGCACTGGAACTCACACCCAGCAGCAATTAAACCAATTGCATCCTCCAAGGTAAAAAACAAACAAACAAGCCAAACCAAAGTGGCCAGCGATTTGAGATCAGTTTAAGCAAGAGCTAATGTTAAATGTGAAGCCTTCTATTACTGGATATAAAAGTGAAGAATACTGACGAAGCCCGTTTCGTATTCCTTCACGGCCAGATTACTATTATTTACTTGAAGACAGCAAAAAGGATGCTTGCTTAAGACAGAAGCCAGGAGTGTGGATGGAGCCTACAAACCAGTCAATTAAAATGGGAGGTGGCTGGGCATGGTGGCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCAGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAGTTAGCTGGGCGTGGTGGCGGGTGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCATGGCACTCCAGCCTGGGTGACAAGAACAAAACTCTGTCTCAAAAAAAAAAAAAAAGGGAGTCATCTTTGACCTTATGTACCCACCACAGGGTCAATATTCCTGGCTACCACAGGTTTCCTGGGCGTGGTAACTTGCAAAAGCCACTCAGGTTGTCCAGAGAAAGGTTAATGTGGCCTCATCATA
Task1_train_28752
The gene MYH9 (myosin heavy chain 9) on Chromosome 22 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; MYH9-related disorder
CAACAGAAGGGCGTGGCAAGGCCTGGCATGCGGGGCAGGAGTATCTCCCGGGACTCACTTCCTGGCCAGGTAGCCCCTGCAGCAGGCCTGGAACCCTATGATGACGTCGGTGATCTTCAGGTCTCGCTCCTCCTCCAGGTGGGCCAGCACACCGGCACGGAAGAAGACTTTGCTCTGGCCAATGCGGTACAGATTGCTGTCGAGCTCCAGGGCTTTTATCTAGGTGGGAGGAGCAGGCCGTTTACCTGGCCAGCAACTGGCCACAGCTCCATGAAAGGGTGGCCCAGGCACAGCTGGAGGTGTGCCCTTCACCCTTCTTCTCACTGGCTGACGAGCATCTGGAGAGCAGAAAGCCATCTCCTCTCCCTCCTTCTTCCTGTTCCCTATCTCCCCGTCACCGAACGCAGGCTGTGCACACAGTAGGTGTTGAATTTTTCCTTCTCTTTTCCTCCCACCAACTCCCTACTCTGCAGCCAAAGCTTTCTGATTCTTTAGAAAGAACGTGAAGTAAAACAAGGCCAAAGGTAGCAGCTGCTAACCTGGACACGCCAGAAACAACAGGATGCTGGGAAGGGGAAAAAAGGAGCAGGGTGGGATTCAGCCCTGGCTTGGCACTGAGTCACCGCAGGGCTTTCAATCAACCGGAACTCAGAGCATGCGCACAGCCCGTCCAGCACTGCGCTAGGGCTGGGAGTGGGGAGGGAGGGAGGAGAAGCCCAGGTCACGGAGCACCAGGCCTGCTGCCCTGGCTGTGAGCTGCCCTGCTCACCACACTGGATGTGGAGTCAGGCCCGTGAGCAAGAAAGCAGGAGAATGTCCCCCAAACCAAAGAGGCCATCATCTTACATCAGAGCCCGGCCATGGCTACAGTTCTTGTCTCCTCCACACAACCCTGGTGCCAAACACCATCCCTGGCTATCTGAGGCCTAGGGGCTACTGCAAAGGGCGCCCGGCAGAGTCAGACGCGGAGCATCAGAAGGGACACAGCCTGGGCATCCACCGACCACTGATATAGCAAGGTGGGCCCTGGCCACGTGGGCACTCCCCAGACAAGGGGCTGCCCATCCAGAGAGGCAGGGACAGCAGCTCAACTCACCATGAGCACGCACGCCTGCTTCCCGTCCATGAAACCCTTGGGAATGGAGTTTGGAGTCAGGATCTCATATCTGAGGAAGGAAAGAGAAGCCTGGTCATTTTACCCATTGCCTCGATTCCACATGCCTGGAATATAGGCGAGAGATTAACATCATTTCTACAATGCAACAGACACAGAATTCTTTACACAAACTCTCCTAAGGAAAGAAGACACAGGCAAATCCCACCCCACTCTTTTCTTCGGCTGAATGAGACAAGGAAGCCTTGGTGTTTTCCGGAAAGTGAATGGAAACTCGTGTAGGACCGTTTCAATCACTCAAGGGCGTGCTTCAGGTTGGACTAAGTGCTAATTGCCTGAGATCCTCATCTGTCACCCAGGGACAGCCATGTTCACACAGCTTCCCTGGGACGCTGCAGGGAGCTGCTAATAAACAGAGATGGCCCAAGAAATAAAGGGCTGCGTCCCGACAGCAACTGACACTCAGCACAGTCATTAGAGAAACAGGAAGGTGTCGCCGTCTTCGCACACAGCAACGCACGGCCGTGTTTCATTTCCACAAAGTTCCTGTAATATCCTAGGTCTCTGGCTGATTCTTTTACATTTCTTTTCATAGCTCCTCTAACTGTAGCAAATAGCACCAGGGCCGGCAGTTACTAGGAGCAAAAGTCAACAGGATGATGATGACCTGCATTTCGGTATTAAAATGGGGAAGTCTCCTTTCCTGCAAAGGGTGGAAAAGAGAAGGAGGTGGGGAAGAGCTGGCCAGACTCAGTTCTACATGGATGGAGGACGTCGCTCCCTCACGACAGGATCCTGCCAGGGAGCAGCAGCCCACCTCTGGGACTCACTGCACGCACAGCAGGGCCCAGGAGAAGCGGGCTCCGGGCCCTGGCTCACCTCTGCCGAAACTCCTGGAAGACCACCCTGTTGGGGAAGCCCTGGCGGCAGATACGGATGCCCTCGAGAACACCGTTGCAGCGCAGCTGGTCCAGCACGAGATGCGGGTCCAGCTTGCCGGCCTGGAGAAGAAAACACATGCATGCGGTCTCACTTCCGTGCCTAGAACAGTCGGAGAATAGTCAGGGAACCCCTATGAACCTGACAGGGCAAGAGCCTAAGGGAGGGGGTCGCTACAGCCCACAGGTTTGGACAATGAAGTCAAAGGATCCAGGTCTGGGAGGGGCCAATGCCACCAAGAGGAAGTGCAGGCTGTGAATGTAGCGTATCTCCTAAGCGAGCCAAGGCCCACCCTGCAGAGAAACGACTGAAGGCTCTGTGCATGCTGGGGGGCTGGAGGGGTGCTTTTGCTGGGGAGACAGACAAGGGCTGAGCACCCCACACCACAGTGCCCTGCCCGGGCCACCCCACCAGGCAGCCGCACCTTCTTCTCGTGGTTGGGGATGATGCAGCGGACAAAGTTGGGGTTCGTGTTCCTCAGCGTAGCCATCAGCTTGGCCAGCTGCTCCTTGTAAAGCTGCCCCACAGTGCGGAACATGCCCTTCCGCGTCTTGAAGGCCCCGGGCAGTGCGGTCTCCGACATGCCGGCCACCTGGTCCAGGCCGATGATGCGGTCCACTGTGGAGACCACAGAGAACACGTGAGTGCCCACACAGTTGCAGCTGGGTGGTGGGGGAGCACGTAGGAGAGAGAGACAGGCACACGTCGGACAGGAAAAGAGGAGACAGAATGAAACAACAGGACCCTTTCCAATTGGAGCCTACACTGGGTGCTAAGGTCATCCCCAAACACAGCGGGAAGCCAAGGGGGATGCAAAGGCACTGGGCTTGTCTCTTGGGGAGCCATGCATCTGCCATGGCCACCTCACCTTCCTGTCACCTATCTTCAGCCACTCTCGAAGCTCTTATTTCCAAAAAGACTCAATGAAGCTAGTCATGTATTTTGGAATAGTGAGAATTCTACTAGCCTGGCTCTAACGAGGGGTGTGAAAACCTGGCTTACGGAATCCTGCTGTCCTATGGTCACAGTTAGAAAAAAAAAAAATCAGTATCTTGAATTCTCACTGACCCTGTCATAAGAGCACTCGGCTGGGAGTCAGGAGGCAGAGCTTGGGGCCACCCTGTCACTGTCTGCAGAACCTTGCAGGGTCCCCTCTATATCTACGCAGACATCTCAGGAAGGGAGAGCTCCAAAGAACTGCTCTTGATTATAAATACTCCAAAGTTTAGGGATCTCTTCACGTACTTGTATTTCATTTTGTCTCCTGGTGCACGGGTCTTTCTCATGTAAACCGACCCTCAAGGGAAGCAGCCCCTAGCACTGGAACTCACACCCAGCAGCAATTAAACCAATTGCATCCTCCAAGGTAAAAAACAAACAAACAAGCCAAACCAAAGTGGCCAGCGATTTGAGATCAGTTTAAGCAAGAGCTAATGTTAAATGTGAAGCCTTCTATTACTGGATATAAAAGTGAAGAATACTGACGAAGCCCGTTTCGTATTCCTTCACGGCCAGATTACTATTATTTACTTGAAGACAGCAAAAAGGATGCTTGCTTAAGACAGAAGCCAGGAGTGTGGATGGAGCCTACAAACCAGTCAATTAAAATGGGAGGTGGCTGGGCATGGTGGCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCAGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAGTTAGCTGGGCGTGGTGGCGGGTGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCATGGCACTCCAGCCTGGGTGACAAGAACAAAACTCTGTCTCAAAAAAAAAAAAAAAGGGAGTCATCTTTGACCTTATGTACCCACCACAGGGTCAATATTCCTGGCTACCACAGGTTTCCTGGGCGTGGTAACTTGCAAAAGCCACTCAGGTTGTCCAGAGAAAGGTTAATGTGGCCTCATCATA
CAACAGAAGGGCGTGGCAAGGCCTGGCATGCGGGGCAGGAGTATCTCCCGGGACTCACTTCCTGGCCAGGTAGCCCCTGCAGCAGGCCTGGAACCCTATGATGACGTCGGTGATCTTCAGGTCTCGCTCCTCCTCCAGGTGGGCCAGCACACCGGCACGGAAGAAGACTTTGCTCTGGCCAATGCGGTACAGATTGCTGTCGAGCTCCAGGGCTTTTATCTAGGTGGGAGGAGCAGGCCGTTTACCTGGCCAGCAACTGGCCACAGCTCCATGAAAGGGTGGCCCAGGCACAGCTGGAGGTGTGCCCTTCACCCTTCTTCTCACTGGCTGACGAGCATCTGGAGAGCAGAAAGCCATCTCCTCTCCCTCCTTCTTCCTGTTCCCTATCTCCCCGTCACCGAACGCAGGCTGTGCACACAGTAGGTGTTGAATTTTTCCTTCTCTTTTCCTCCCACCAACTCCCTACTCTGCAGCCAAAGCTTTCTGATTCTTTAGAAAGAACGTGAAGTAAAACAAGGCCAAAGGTAGCAGCTGCTAACCTGGACACGCCAGAAACAACAGGATGCTGGGAAGGGGAAAAAAGGAGCAGGGTGGGATTCAGCCCTGGCTTGGCACTGAGTCACCGCAGGGCTTTCAATCAACCGGAACTCAGAGCATGCGCACAGCCCGTCCAGCACTGCGCTAGGGCTGGGAGTGGGGAGGGAGGGAGGAGAAGCCCAGGTCACGGAGCACCAGGCCTGCTGCCCTGGCTGTGAGCTGCCCTGCTCACCACACTGGATGTGGAGTCAGGCCCGTGAGCAAGAAAGCAGGAGAATGTCCCCCAAACCAAAGAGGCCATCATCTTACATCAGAGCCCGGCCATGGCTACAGTTCTTGTCTCCTCCACACAACCCTGGTGCCAAACACCATCCCTGGCTATCTGAGGCCTAGGGGCTACTGCAAAGGGCGCCCGGCAGAGTCAGACGCGGAGCATCAGAAGGGACACAGCCTGGGCATCCACCGACCACTGATATAGCAAGGTGGGCCCTGGCCACGTGGGCACTCCCCAGACAAGGGGCTGCCCATCCAGAGAGGCAGGGACAGCAGCTCAACTCACCATGAGCACGCACGCCTGCTTCCCGTCCATGAAACCCTTGGGAATGGAGTTTGGAGTCAGGATCTCATATCTGAGGAAGGAAAGAGAAGCCTGGTCATTTTACCCATTGCCTCGATTCCACATGCCTGGAATATAGGCGAGAGATTAACATCATTTCTACAATGCAACAGACACAGAATTCTTTACACAAACTCTCCTAAGGAAAGAAGACACAGGCAAATCCCACCCCACTCTTTTCTTCGGCTGAATGAGACAAGGAAGCCTTGGTGTTTTCCGGAAAGTGAATGGAAACTCGTGTAGGACCGTTTCAATCACTCAAGGGCGTGCTTCAGGTTGGACTAAGTGCTAATTGCCTGAGATCCTCATCTGTCACCCAGGGACAGCCATGTTCACACAGCTTCCCTGGGACGCTGCAGGGAGCTGCTAATAAACAGAGATGGCCCAAGAAATAAAGGGCTGCGTCCCGACAGCAACTGACACTCAGCACAGTCATTAGAGAAACAGGAAGGTGTCGCCGTCTTCGCACACAGCAACGCACGGCCGTGTTTCATTTCCACAAAGTTCCTGTAATATCCTAGGTCTCTGGCTGATTCTTTTACATTTCTTTTCATAGCTCCTCTAACTGTAGCAAATAGCACCAGGGCCGGCAGTTACTAGGAGCAAAAGTCAACAGGATGATGATGACCTGCATTTCGGTATTAAAATGGGGAAGTCTCCTTTCCTGCAAAGGGTGGAAAAGAGAAGGAGGTGGGGAAGAGCTGGCCAGACTCAGTTCTACATGGATGGAGGACGTCGCTCCCTCACGACAGGATCCTGCCAGGGAGCAGCAGCCCACCTCTGGGACTCACTGCACGCACAGCAGGGCCCAGGAGAAGCGGGCTCCGGGCCCTGGCTCACCTCTGCCGAAACTCCTGGAAGACCACCCTGTTGGGGAAGCCCTGGCGGCAGATACAGATGCCCTCGAGAACACCGTTGCAGCGCAGCTGGTCCAGCACGAGATGCGGGTCCAGCTTGCCGGCCTGGAGAAGAAAACACATGCATGCGGTCTCACTTCCGTGCCTAGAACAGTCGGAGAATAGTCAGGGAACCCCTATGAACCTGACAGGGCAAGAGCCTAAGGGAGGGGGTCGCTACAGCCCACAGGTTTGGACAATGAAGTCAAAGGATCCAGGTCTGGGAGGGGCCAATGCCACCAAGAGGAAGTGCAGGCTGTGAATGTAGCGTATCTCCTAAGCGAGCCAAGGCCCACCCTGCAGAGAAACGACTGAAGGCTCTGTGCATGCTGGGGGGCTGGAGGGGTGCTTTTGCTGGGGAGACAGACAAGGGCTGAGCACCCCACACCACAGTGCCCTGCCCGGGCCACCCCACCAGGCAGCCGCACCTTCTTCTCGTGGTTGGGGATGATGCAGCGGACAAAGTTGGGGTTCGTGTTCCTCAGCGTAGCCATCAGCTTGGCCAGCTGCTCCTTGTAAAGCTGCCCCACAGTGCGGAACATGCCCTTCCGCGTCTTGAAGGCCCCGGGCAGTGCGGTCTCCGACATGCCGGCCACCTGGTCCAGGCCGATGATGCGGTCCACTGTGGAGACCACAGAGAACACGTGAGTGCCCACACAGTTGCAGCTGGGTGGTGGGGGAGCACGTAGGAGAGAGAGACAGGCACACGTCGGACAGGAAAAGAGGAGACAGAATGAAACAACAGGACCCTTTCCAATTGGAGCCTACACTGGGTGCTAAGGTCATCCCCAAACACAGCGGGAAGCCAAGGGGGATGCAAAGGCACTGGGCTTGTCTCTTGGGGAGCCATGCATCTGCCATGGCCACCTCACCTTCCTGTCACCTATCTTCAGCCACTCTCGAAGCTCTTATTTCCAAAAAGACTCAATGAAGCTAGTCATGTATTTTGGAATAGTGAGAATTCTACTAGCCTGGCTCTAACGAGGGGTGTGAAAACCTGGCTTACGGAATCCTGCTGTCCTATGGTCACAGTTAGAAAAAAAAAAAATCAGTATCTTGAATTCTCACTGACCCTGTCATAAGAGCACTCGGCTGGGAGTCAGGAGGCAGAGCTTGGGGCCACCCTGTCACTGTCTGCAGAACCTTGCAGGGTCCCCTCTATATCTACGCAGACATCTCAGGAAGGGAGAGCTCCAAAGAACTGCTCTTGATTATAAATACTCCAAAGTTTAGGGATCTCTTCACGTACTTGTATTTCATTTTGTCTCCTGGTGCACGGGTCTTTCTCATGTAAACCGACCCTCAAGGGAAGCAGCCCCTAGCACTGGAACTCACACCCAGCAGCAATTAAACCAATTGCATCCTCCAAGGTAAAAAACAAACAAACAAGCCAAACCAAAGTGGCCAGCGATTTGAGATCAGTTTAAGCAAGAGCTAATGTTAAATGTGAAGCCTTCTATTACTGGATATAAAAGTGAAGAATACTGACGAAGCCCGTTTCGTATTCCTTCACGGCCAGATTACTATTATTTACTTGAAGACAGCAAAAAGGATGCTTGCTTAAGACAGAAGCCAGGAGTGTGGATGGAGCCTACAAACCAGTCAATTAAAATGGGAGGTGGCTGGGCATGGTGGCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCAGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAGTTAGCTGGGCGTGGTGGCGGGTGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCATGGCACTCCAGCCTGGGTGACAAGAACAAAACTCTGTCTCAAAAAAAAAAAAAAAGGGAGTCATCTTTGACCTTATGTACCCACCACAGGGTCAATATTCCTGGCTACCACAGGTTTCCTGGGCGTGGTAACTTGCAAAAGCCACTCAGGTTGTCCAGAGAAAGGTTAATGTGGCCTCATCATA
Task1_train_28753
With a mutation on Chromosome 22 in gene MYH9 (myosin heavy chain 9), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
CAACAGAAGGGCGTGGCAAGGCCTGGCATGCGGGGCAGGAGTATCTCCCGGGACTCACTTCCTGGCCAGGTAGCCCCTGCAGCAGGCCTGGAACCCTATGATGACGTCGGTGATCTTCAGGTCTCGCTCCTCCTCCAGGTGGGCCAGCACACCGGCACGGAAGAAGACTTTGCTCTGGCCAATGCGGTACAGATTGCTGTCGAGCTCCAGGGCTTTTATCTAGGTGGGAGGAGCAGGCCGTTTACCTGGCCAGCAACTGGCCACAGCTCCATGAAAGGGTGGCCCAGGCACAGCTGGAGGTGTGCCCTTCACCCTTCTTCTCACTGGCTGACGAGCATCTGGAGAGCAGAAAGCCATCTCCTCTCCCTCCTTCTTCCTGTTCCCTATCTCCCCGTCACCGAACGCAGGCTGTGCACACAGTAGGTGTTGAATTTTTCCTTCTCTTTTCCTCCCACCAACTCCCTACTCTGCAGCCAAAGCTTTCTGATTCTTTAGAAAGAACGTGAAGTAAAACAAGGCCAAAGGTAGCAGCTGCTAACCTGGACACGCCAGAAACAACAGGATGCTGGGAAGGGGAAAAAAGGAGCAGGGTGGGATTCAGCCCTGGCTTGGCACTGAGTCACCGCAGGGCTTTCAATCAACCGGAACTCAGAGCATGCGCACAGCCCGTCCAGCACTGCGCTAGGGCTGGGAGTGGGGAGGGAGGGAGGAGAAGCCCAGGTCACGGAGCACCAGGCCTGCTGCCCTGGCTGTGAGCTGCCCTGCTCACCACACTGGATGTGGAGTCAGGCCCGTGAGCAAGAAAGCAGGAGAATGTCCCCCAAACCAAAGAGGCCATCATCTTACATCAGAGCCCGGCCATGGCTACAGTTCTTGTCTCCTCCACACAACCCTGGTGCCAAACACCATCCCTGGCTATCTGAGGCCTAGGGGCTACTGCAAAGGGCGCCCGGCAGAGTCAGACGCGGAGCATCAGAAGGGACACAGCCTGGGCATCCACCGACCACTGATATAGCAAGGTGGGCCCTGGCCACGTGGGCACTCCCCAGACAAGGGGCTGCCCATCCAGAGAGGCAGGGACAGCAGCTCAACTCACCATGAGCACGCACGCCTGCTTCCCGTCCATGAAACCCTTGGGAATGGAGTTTGGAGTCAGGATCTCATATCTGAGGAAGGAAAGAGAAGCCTGGTCATTTTACCCATTGCCTCGATTCCACATGCCTGGAATATAGGCGAGAGATTAACATCATTTCTACAATGCAACAGACACAGAATTCTTTACACAAACTCTCCTAAGGAAAGAAGACACAGGCAAATCCCACCCCACTCTTTTCTTCGGCTGAATGAGACAAGGAAGCCTTGGTGTTTTCCGGAAAGTGAATGGAAACTCGTGTAGGACCGTTTCAATCACTCAAGGGCGTGCTTCAGGTTGGACTAAGTGCTAATTGCCTGAGATCCTCATCTGTCACCCAGGGACAGCCATGTTCACACAGCTTCCCTGGGACGCTGCAGGGAGCTGCTAATAAACAGAGATGGCCCAAGAAATAAAGGGCTGCGTCCCGACAGCAACTGACACTCAGCACAGTCATTAGAGAAACAGGAAGGTGTCGCCGTCTTCGCACACAGCAACGCACGGCCGTGTTTCATTTCCACAAAGTTCCTGTAATATCCTAGGTCTCTGGCTGATTCTTTTACATTTCTTTTCATAGCTCCTCTAACTGTAGCAAATAGCACCAGGGCCGGCAGTTACTAGGAGCAAAAGTCAACAGGATGATGATGACCTGCATTTCGGTATTAAAATGGGGAAGTCTCCTTTCCTGCAAAGGGTGGAAAAGAGAAGGAGGTGGGGAAGAGCTGGCCAGACTCAGTTCTACATGGATGGAGGACGTCGCTCCCTCACGACAGGATCCTGCCAGGGAGCAGCAGCCCACCTCTGGGACTCACTGCACGCACAGCAGGGCCCAGGAGAAGCGGGCTCCGGGCCCTGGCTCACCTCTGCCGAAACTCCTGGAAGACCACCCTGTTGGGGAAGCCCTGGCGGCAGATACGGATGCCCTCGAGAACACCGTTGCAGCGCAGCTGGTCCAGCACGAGATGCGGGTCCAGCTTGCCGGCCTGGAGAAGAAAACACATGCATGCGGTCTCACTTCCGTGCCTAGAACAGTCGGAGAATAGTCAGGGAACCCCTATGAACCTGACAGGGCAAGAGCCTAAGGGAGGGGGTCGCTACAGCCCACAGGTTTGGACAATGAAGTCAAAGGATCCAGGTCTGGGAGGGGCCAATGCCACCAAGAGGAAGTGCAGGCTGTGAATGTAGCGTATCTCCTAAGCGAGCCAAGGCCCACCCTGCAGAGAAACGACTGAAGGCTCTGTGCATGCTGGGGGGCTGGAGGGGTGCTTTTGCTGGGGAGACAGACAAGGGCTGAGCACCCCACACCACAGTGCCCTGCCCGGGCCACCCCACCAGGCAGCCGCACCTTCTTCTCGTGGTTGGGGATGATGCAGCGGACAAAGTTGGGGTTCGTGTTCCTCAGCGTAGCCATCAGCTTGGCCAGCTGCTCCTTGTAAAGCTGCCCCACAGTGCGGAACATGCCCTTCCGCGTCTTGAAGGCCCCGGGCAGTGCGGTCTCCGACATGCCGGCCACCTGGTCCAGGCCGATGATGCGGTCCACTGTGGAGACCACAGAGAACACGTGAGTGCCCACACAGTTGCAGCTGGGTGGTGGGGGAGCACGTAGGAGAGAGAGACAGGCACACGTCGGACAGGAAAAGAGGAGACAGAATGAAACAACAGGACCCTTTCCAATTGGAGCCTACACTGGGTGCTAAGGTCATCCCCAAACACAGCGGGAAGCCAAGGGGGATGCAAAGGCACTGGGCTTGTCTCTTGGGGAGCCATGCATCTGCCATGGCCACCTCACCTTCCTGTCACCTATCTTCAGCCACTCTCGAAGCTCTTATTTCCAAAAAGACTCAATGAAGCTAGTCATGTATTTTGGAATAGTGAGAATTCTACTAGCCTGGCTCTAACGAGGGGTGTGAAAACCTGGCTTACGGAATCCTGCTGTCCTATGGTCACAGTTAGAAAAAAAAAAAATCAGTATCTTGAATTCTCACTGACCCTGTCATAAGAGCACTCGGCTGGGAGTCAGGAGGCAGAGCTTGGGGCCACCCTGTCACTGTCTGCAGAACCTTGCAGGGTCCCCTCTATATCTACGCAGACATCTCAGGAAGGGAGAGCTCCAAAGAACTGCTCTTGATTATAAATACTCCAAAGTTTAGGGATCTCTTCACGTACTTGTATTTCATTTTGTCTCCTGGTGCACGGGTCTTTCTCATGTAAACCGACCCTCAAGGGAAGCAGCCCCTAGCACTGGAACTCACACCCAGCAGCAATTAAACCAATTGCATCCTCCAAGGTAAAAAACAAACAAACAAGCCAAACCAAAGTGGCCAGCGATTTGAGATCAGTTTAAGCAAGAGCTAATGTTAAATGTGAAGCCTTCTATTACTGGATATAAAAGTGAAGAATACTGACGAAGCCCGTTTCGTATTCCTTCACGGCCAGATTACTATTATTTACTTGAAGACAGCAAAAAGGATGCTTGCTTAAGACAGAAGCCAGGAGTGTGGATGGAGCCTACAAACCAGTCAATTAAAATGGGAGGTGGCTGGGCATGGTGGCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCAGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAGTTAGCTGGGCGTGGTGGCGGGTGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCATGGCACTCCAGCCTGGGTGACAAGAACAAAACTCTGTCTCAAAAAAAAAAAAAAAGGGAGTCATCTTTGACCTTATGTACCCACCACAGGGTCAATATTCCTGGCTACCACAGGTTTCCTGGGCGTGGTAACTTGCAAAAGCCACTCAGGTTGTCCAGAGAAAGGTTAATGTGGCCTCATCATA
CAACAGAAGGGCGTGGCAAGGCCTGGCATGCGGGGCAGGAGTATCTCCCGGGACTCACTTCCTGGCCAGGTAGCCCCTGCAGCAGGCCTGGAACCCTATGATGACGTCGGTGATCTTCAGGTCTCGCTCCTCCTCCAGGTGGGCCAGCACACCGGCACGGAAGAAGACTTTGCTCTGGCCAATGCGGTACAGATTGCTGTCGAGCTCCAGGGCTTTTATCTAGGTGGGAGGAGCAGGCCGTTTACCTGGCCAGCAACTGGCCACAGCTCCATGAAAGGGTGGCCCAGGCACAGCTGGAGGTGTGCCCTTCACCCTTCTTCTCACTGGCTGACGAGCATCTGGAGAGCAGAAAGCCATCTCCTCTCCCTCCTTCTTCCTGTTCCCTATCTCCCCGTCACCGAACGCAGGCTGTGCACACAGTAGGTGTTGAATTTTTCCTTCTCTTTTCCTCCCACCAACTCCCTACTCTGCAGCCAAAGCTTTCTGATTCTTTAGAAAGAACGTGAAGTAAAACAAGGCCAAAGGTAGCAGCTGCTAACCTGGACACGCCAGAAACAACAGGATGCTGGGAAGGGGAAAAAAGGAGCAGGGTGGGATTCAGCCCTGGCTTGGCACTGAGTCACCGCAGGGCTTTCAATCAACCGGAACTCAGAGCATGCGCACAGCCCGTCCAGCACTGCGCTAGGGCTGGGAGTGGGGAGGGAGGGAGGAGAAGCCCAGGTCACGGAGCACCAGGCCTGCTGCCCTGGCTGTGAGCTGCCCTGCTCACCACACTGGATGTGGAGTCAGGCCCGTGAGCAAGAAAGCAGGAGAATGTCCCCCAAACCAAAGAGGCCATCATCTTACATCAGAGCCCGGCCATGGCTACAGTTCTTGTCTCCTCCACACAACCCTGGTGCCAAACACCATCCCTGGCTATCTGAGGCCTAGGGGCTACTGCAAAGGGCGCCCGGCAGAGTCAGACGCGGAGCATCAGAAGGGACACAGCCTGGGCATCCACCGACCACTGATATAGCAAGGTGGGCCCTGGCCACGTGGGCACTCCCCAGACAAGGGGCTGCCCATCCAGAGAGGCAGGGACAGCAGCTCAACTCACCATGAGCACGCACGCCTGCTTCCCGTCCATGAAACCCTTGGGAATGGAGTTTGGAGTCAGGATCTCATATCTGAGGAAGGAAAGAGAAGCCTGGTCATTTTACCCATTGCCTCGATTCCACATGCCTGGAATATAGGCGAGAGATTAACATCATTTCTACAATGCAACAGACACAGAATTCTTTACACAAACTCTCCTAAGGAAAGAAGACACAGGCAAATCCCACCCCACTCTTTTCTTCGGCTGAATGAGACAAGGAAGCCTTGGTGTTTTCCGGAAAGTGAATGGAAACTCGTGTAGGACCGTTTCAATCACTCAAGGGCGTGCTTCAGGTTGGACTAAGTGCTAATTGCCTGAGATCCTCATCTGTCACCCAGGGACAGCCATGTTCACACAGCTTCCCTGGGACGCTGCAGGGAGCTGCTAATAAACAGAGATGGCCCAAGAAATAAAGGGCTGCGTCCCGACAGCAACTGACACTCAGCACAGTCATTAGAGAAACAGGAAGGTGTCGCCGTCTTCGCACACAGCAACGCACGGCCGTGTTTCATTTCCACAAAGTTCCTGTAATATCCTAGGTCTCTGGCTGATTCTTTTACATTTCTTTTCATAGCTCCTCTAACTGTAGCAAATAGCACCAGGGCCGGCAGTTACTAGGAGCAAAAGTCAACAGGATGATGATGACCTGCATTTCGGTATTAAAATGGGGAAGTCTCCTTTCCTGCAAAGGGTGGAAAAGAGAAGGAGGTGGGGAAGAGCTGGCCAGACTCAGTTCTACATGGATGGAGGACGTCGCTCCCTCACGACAGGATCCTGCCAGGGAGCAGCAGCCCACCTCTGGGACTCACTGCACGCACAGCAGGGCCCAGGAGAAGCGGGCTCCGGGCCCTGGCTCACCTCTGCCGAAACTCCTGGAAGACCACCCTGTTGGGGAAGCCCTGGCGGCAGATACAGATGCCCTCGAGAACACCGTTGCAGCGCAGCTGGTCCAGCACGAGATGCGGGTCCAGCTTGCCGGCCTGGAGAAGAAAACACATGCATGCGGTCTCACTTCCGTGCCTAGAACAGTCGGAGAATAGTCAGGGAACCCCTATGAACCTGACAGGGCAAGAGCCTAAGGGAGGGGGTCGCTACAGCCCACAGGTTTGGACAATGAAGTCAAAGGATCCAGGTCTGGGAGGGGCCAATGCCACCAAGAGGAAGTGCAGGCTGTGAATGTAGCGTATCTCCTAAGCGAGCCAAGGCCCACCCTGCAGAGAAACGACTGAAGGCTCTGTGCATGCTGGGGGGCTGGAGGGGTGCTTTTGCTGGGGAGACAGACAAGGGCTGAGCACCCCACACCACAGTGCCCTGCCCGGGCCACCCCACCAGGCAGCCGCACCTTCTTCTCGTGGTTGGGGATGATGCAGCGGACAAAGTTGGGGTTCGTGTTCCTCAGCGTAGCCATCAGCTTGGCCAGCTGCTCCTTGTAAAGCTGCCCCACAGTGCGGAACATGCCCTTCCGCGTCTTGAAGGCCCCGGGCAGTGCGGTCTCCGACATGCCGGCCACCTGGTCCAGGCCGATGATGCGGTCCACTGTGGAGACCACAGAGAACACGTGAGTGCCCACACAGTTGCAGCTGGGTGGTGGGGGAGCACGTAGGAGAGAGAGACAGGCACACGTCGGACAGGAAAAGAGGAGACAGAATGAAACAACAGGACCCTTTCCAATTGGAGCCTACACTGGGTGCTAAGGTCATCCCCAAACACAGCGGGAAGCCAAGGGGGATGCAAAGGCACTGGGCTTGTCTCTTGGGGAGCCATGCATCTGCCATGGCCACCTCACCTTCCTGTCACCTATCTTCAGCCACTCTCGAAGCTCTTATTTCCAAAAAGACTCAATGAAGCTAGTCATGTATTTTGGAATAGTGAGAATTCTACTAGCCTGGCTCTAACGAGGGGTGTGAAAACCTGGCTTACGGAATCCTGCTGTCCTATGGTCACAGTTAGAAAAAAAAAAAATCAGTATCTTGAATTCTCACTGACCCTGTCATAAGAGCACTCGGCTGGGAGTCAGGAGGCAGAGCTTGGGGCCACCCTGTCACTGTCTGCAGAACCTTGCAGGGTCCCCTCTATATCTACGCAGACATCTCAGGAAGGGAGAGCTCCAAAGAACTGCTCTTGATTATAAATACTCCAAAGTTTAGGGATCTCTTCACGTACTTGTATTTCATTTTGTCTCCTGGTGCACGGGTCTTTCTCATGTAAACCGACCCTCAAGGGAAGCAGCCCCTAGCACTGGAACTCACACCCAGCAGCAATTAAACCAATTGCATCCTCCAAGGTAAAAAACAAACAAACAAGCCAAACCAAAGTGGCCAGCGATTTGAGATCAGTTTAAGCAAGAGCTAATGTTAAATGTGAAGCCTTCTATTACTGGATATAAAAGTGAAGAATACTGACGAAGCCCGTTTCGTATTCCTTCACGGCCAGATTACTATTATTTACTTGAAGACAGCAAAAAGGATGCTTGCTTAAGACAGAAGCCAGGAGTGTGGATGGAGCCTACAAACCAGTCAATTAAAATGGGAGGTGGCTGGGCATGGTGGCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCAGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAGTTAGCTGGGCGTGGTGGCGGGTGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCATGGCACTCCAGCCTGGGTGACAAGAACAAAACTCTGTCTCAAAAAAAAAAAAAAAGGGAGTCATCTTTGACCTTATGTACCCACCACAGGGTCAATATTCCTGGCTACCACAGGTTTCCTGGGCGTGGTAACTTGCAAAAGCCACTCAGGTTGTCCAGAGAAAGGTTAATGTGGCCTCATCATA
Task1_train_28754
The gene MYH9 (myosin heavy chain 9) on Chromosome 22 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Autosomal dominant nonsyndromic hearing loss 17
CAACAGAAGGGCGTGGCAAGGCCTGGCATGCGGGGCAGGAGTATCTCCCGGGACTCACTTCCTGGCCAGGTAGCCCCTGCAGCAGGCCTGGAACCCTATGATGACGTCGGTGATCTTCAGGTCTCGCTCCTCCTCCAGGTGGGCCAGCACACCGGCACGGAAGAAGACTTTGCTCTGGCCAATGCGGTACAGATTGCTGTCGAGCTCCAGGGCTTTTATCTAGGTGGGAGGAGCAGGCCGTTTACCTGGCCAGCAACTGGCCACAGCTCCATGAAAGGGTGGCCCAGGCACAGCTGGAGGTGTGCCCTTCACCCTTCTTCTCACTGGCTGACGAGCATCTGGAGAGCAGAAAGCCATCTCCTCTCCCTCCTTCTTCCTGTTCCCTATCTCCCCGTCACCGAACGCAGGCTGTGCACACAGTAGGTGTTGAATTTTTCCTTCTCTTTTCCTCCCACCAACTCCCTACTCTGCAGCCAAAGCTTTCTGATTCTTTAGAAAGAACGTGAAGTAAAACAAGGCCAAAGGTAGCAGCTGCTAACCTGGACACGCCAGAAACAACAGGATGCTGGGAAGGGGAAAAAAGGAGCAGGGTGGGATTCAGCCCTGGCTTGGCACTGAGTCACCGCAGGGCTTTCAATCAACCGGAACTCAGAGCATGCGCACAGCCCGTCCAGCACTGCGCTAGGGCTGGGAGTGGGGAGGGAGGGAGGAGAAGCCCAGGTCACGGAGCACCAGGCCTGCTGCCCTGGCTGTGAGCTGCCCTGCTCACCACACTGGATGTGGAGTCAGGCCCGTGAGCAAGAAAGCAGGAGAATGTCCCCCAAACCAAAGAGGCCATCATCTTACATCAGAGCCCGGCCATGGCTACAGTTCTTGTCTCCTCCACACAACCCTGGTGCCAAACACCATCCCTGGCTATCTGAGGCCTAGGGGCTACTGCAAAGGGCGCCCGGCAGAGTCAGACGCGGAGCATCAGAAGGGACACAGCCTGGGCATCCACCGACCACTGATATAGCAAGGTGGGCCCTGGCCACGTGGGCACTCCCCAGACAAGGGGCTGCCCATCCAGAGAGGCAGGGACAGCAGCTCAACTCACCATGAGCACGCACGCCTGCTTCCCGTCCATGAAACCCTTGGGAATGGAGTTTGGAGTCAGGATCTCATATCTGAGGAAGGAAAGAGAAGCCTGGTCATTTTACCCATTGCCTCGATTCCACATGCCTGGAATATAGGCGAGAGATTAACATCATTTCTACAATGCAACAGACACAGAATTCTTTACACAAACTCTCCTAAGGAAAGAAGACACAGGCAAATCCCACCCCACTCTTTTCTTCGGCTGAATGAGACAAGGAAGCCTTGGTGTTTTCCGGAAAGTGAATGGAAACTCGTGTAGGACCGTTTCAATCACTCAAGGGCGTGCTTCAGGTTGGACTAAGTGCTAATTGCCTGAGATCCTCATCTGTCACCCAGGGACAGCCATGTTCACACAGCTTCCCTGGGACGCTGCAGGGAGCTGCTAATAAACAGAGATGGCCCAAGAAATAAAGGGCTGCGTCCCGACAGCAACTGACACTCAGCACAGTCATTAGAGAAACAGGAAGGTGTCGCCGTCTTCGCACACAGCAACGCACGGCCGTGTTTCATTTCCACAAAGTTCCTGTAATATCCTAGGTCTCTGGCTGATTCTTTTACATTTCTTTTCATAGCTCCTCTAACTGTAGCAAATAGCACCAGGGCCGGCAGTTACTAGGAGCAAAAGTCAACAGGATGATGATGACCTGCATTTCGGTATTAAAATGGGGAAGTCTCCTTTCCTGCAAAGGGTGGAAAAGAGAAGGAGGTGGGGAAGAGCTGGCCAGACTCAGTTCTACATGGATGGAGGACGTCGCTCCCTCACGACAGGATCCTGCCAGGGAGCAGCAGCCCACCTCTGGGACTCACTGCACGCACAGCAGGGCCCAGGAGAAGCGGGCTCCGGGCCCTGGCTCACCTCTGCCGAAACTCCTGGAAGACCACCCTGTTGGGGAAGCCCTGGCGGCAGATACGGATGCCCTCGAGAACACCGTTGCAGCGCAGCTGGTCCAGCACGAGATGCGGGTCCAGCTTGCCGGCCTGGAGAAGAAAACACATGCATGCGGTCTCACTTCCGTGCCTAGAACAGTCGGAGAATAGTCAGGGAACCCCTATGAACCTGACAGGGCAAGAGCCTAAGGGAGGGGGTCGCTACAGCCCACAGGTTTGGACAATGAAGTCAAAGGATCCAGGTCTGGGAGGGGCCAATGCCACCAAGAGGAAGTGCAGGCTGTGAATGTAGCGTATCTCCTAAGCGAGCCAAGGCCCACCCTGCAGAGAAACGACTGAAGGCTCTGTGCATGCTGGGGGGCTGGAGGGGTGCTTTTGCTGGGGAGACAGACAAGGGCTGAGCACCCCACACCACAGTGCCCTGCCCGGGCCACCCCACCAGGCAGCCGCACCTTCTTCTCGTGGTTGGGGATGATGCAGCGGACAAAGTTGGGGTTCGTGTTCCTCAGCGTAGCCATCAGCTTGGCCAGCTGCTCCTTGTAAAGCTGCCCCACAGTGCGGAACATGCCCTTCCGCGTCTTGAAGGCCCCGGGCAGTGCGGTCTCCGACATGCCGGCCACCTGGTCCAGGCCGATGATGCGGTCCACTGTGGAGACCACAGAGAACACGTGAGTGCCCACACAGTTGCAGCTGGGTGGTGGGGGAGCACGTAGGAGAGAGAGACAGGCACACGTCGGACAGGAAAAGAGGAGACAGAATGAAACAACAGGACCCTTTCCAATTGGAGCCTACACTGGGTGCTAAGGTCATCCCCAAACACAGCGGGAAGCCAAGGGGGATGCAAAGGCACTGGGCTTGTCTCTTGGGGAGCCATGCATCTGCCATGGCCACCTCACCTTCCTGTCACCTATCTTCAGCCACTCTCGAAGCTCTTATTTCCAAAAAGACTCAATGAAGCTAGTCATGTATTTTGGAATAGTGAGAATTCTACTAGCCTGGCTCTAACGAGGGGTGTGAAAACCTGGCTTACGGAATCCTGCTGTCCTATGGTCACAGTTAGAAAAAAAAAAAATCAGTATCTTGAATTCTCACTGACCCTGTCATAAGAGCACTCGGCTGGGAGTCAGGAGGCAGAGCTTGGGGCCACCCTGTCACTGTCTGCAGAACCTTGCAGGGTCCCCTCTATATCTACGCAGACATCTCAGGAAGGGAGAGCTCCAAAGAACTGCTCTTGATTATAAATACTCCAAAGTTTAGGGATCTCTTCACGTACTTGTATTTCATTTTGTCTCCTGGTGCACGGGTCTTTCTCATGTAAACCGACCCTCAAGGGAAGCAGCCCCTAGCACTGGAACTCACACCCAGCAGCAATTAAACCAATTGCATCCTCCAAGGTAAAAAACAAACAAACAAGCCAAACCAAAGTGGCCAGCGATTTGAGATCAGTTTAAGCAAGAGCTAATGTTAAATGTGAAGCCTTCTATTACTGGATATAAAAGTGAAGAATACTGACGAAGCCCGTTTCGTATTCCTTCACGGCCAGATTACTATTATTTACTTGAAGACAGCAAAAAGGATGCTTGCTTAAGACAGAAGCCAGGAGTGTGGATGGAGCCTACAAACCAGTCAATTAAAATGGGAGGTGGCTGGGCATGGTGGCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCAGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAGTTAGCTGGGCGTGGTGGCGGGTGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCATGGCACTCCAGCCTGGGTGACAAGAACAAAACTCTGTCTCAAAAAAAAAAAAAAAGGGAGTCATCTTTGACCTTATGTACCCACCACAGGGTCAATATTCCTGGCTACCACAGGTTTCCTGGGCGTGGTAACTTGCAAAAGCCACTCAGGTTGTCCAGAGAAAGGTTAATGTGGCCTCATCATA
CAACAGAAGGGCGTGGCAAGGCCTGGCATGCGGGGCAGGAGTATCTCCCGGGACTCACTTCCTGGCCAGGTAGCCCCTGCAGCAGGCCTGGAACCCTATGATGACGTCGGTGATCTTCAGGTCTCGCTCCTCCTCCAGGTGGGCCAGCACACCGGCACGGAAGAAGACTTTGCTCTGGCCAATGCGGTACAGATTGCTGTCGAGCTCCAGGGCTTTTATCTAGGTGGGAGGAGCAGGCCGTTTACCTGGCCAGCAACTGGCCACAGCTCCATGAAAGGGTGGCCCAGGCACAGCTGGAGGTGTGCCCTTCACCCTTCTTCTCACTGGCTGACGAGCATCTGGAGAGCAGAAAGCCATCTCCTCTCCCTCCTTCTTCCTGTTCCCTATCTCCCCGTCACCGAACGCAGGCTGTGCACACAGTAGGTGTTGAATTTTTCCTTCTCTTTTCCTCCCACCAACTCCCTACTCTGCAGCCAAAGCTTTCTGATTCTTTAGAAAGAACGTGAAGTAAAACAAGGCCAAAGGTAGCAGCTGCTAACCTGGACACGCCAGAAACAACAGGATGCTGGGAAGGGGAAAAAAGGAGCAGGGTGGGATTCAGCCCTGGCTTGGCACTGAGTCACCGCAGGGCTTTCAATCAACCGGAACTCAGAGCATGCGCACAGCCCGTCCAGCACTGCGCTAGGGCTGGGAGTGGGGAGGGAGGGAGGAGAAGCCCAGGTCACGGAGCACCAGGCCTGCTGCCCTGGCTGTGAGCTGCCCTGCTCACCACACTGGATGTGGAGTCAGGCCCGTGAGCAAGAAAGCAGGAGAATGTCCCCCAAACCAAAGAGGCCATCATCTTACATCAGAGCCCGGCCATGGCTACAGTTCTTGTCTCCTCCACACAACCCTGGTGCCAAACACCATCCCTGGCTATCTGAGGCCTAGGGGCTACTGCAAAGGGCGCCCGGCAGAGTCAGACGCGGAGCATCAGAAGGGACACAGCCTGGGCATCCACCGACCACTGATATAGCAAGGTGGGCCCTGGCCACGTGGGCACTCCCCAGACAAGGGGCTGCCCATCCAGAGAGGCAGGGACAGCAGCTCAACTCACCATGAGCACGCACGCCTGCTTCCCGTCCATGAAACCCTTGGGAATGGAGTTTGGAGTCAGGATCTCATATCTGAGGAAGGAAAGAGAAGCCTGGTCATTTTACCCATTGCCTCGATTCCACATGCCTGGAATATAGGCGAGAGATTAACATCATTTCTACAATGCAACAGACACAGAATTCTTTACACAAACTCTCCTAAGGAAAGAAGACACAGGCAAATCCCACCCCACTCTTTTCTTCGGCTGAATGAGACAAGGAAGCCTTGGTGTTTTCCGGAAAGTGAATGGAAACTCGTGTAGGACCGTTTCAATCACTCAAGGGCGTGCTTCAGGTTGGACTAAGTGCTAATTGCCTGAGATCCTCATCTGTCACCCAGGGACAGCCATGTTCACACAGCTTCCCTGGGACGCTGCAGGGAGCTGCTAATAAACAGAGATGGCCCAAGAAATAAAGGGCTGCGTCCCGACAGCAACTGACACTCAGCACAGTCATTAGAGAAACAGGAAGGTGTCGCCGTCTTCGCACACAGCAACGCACGGCCGTGTTTCATTTCCACAAAGTTCCTGTAATATCCTAGGTCTCTGGCTGATTCTTTTACATTTCTTTTCATAGCTCCTCTAACTGTAGCAAATAGCACCAGGGCCGGCAGTTACTAGGAGCAAAAGTCAACAGGATGATGATGACCTGCATTTCGGTATTAAAATGGGGAAGTCTCCTTTCCTGCAAAGGGTGGAAAAGAGAAGGAGGTGGGGAAGAGCTGGCCAGACTCAGTTCTACATGGATGGAGGACGTCGCTCCCTCACGACAGGATCCTGCCAGGGAGCAGCAGCCCACCTCTGGGACTCACTGCACGCACAGCAGGGCCCAGGAGAAGCGGGCTCCGGGCCCTGGCTCACCTCTGCCGAAACTCCTGGAAGACCACCCTGTTGGGGAAGCCCTGGCGGCAGATACAGATGCCCTCGAGAACACCGTTGCAGCGCAGCTGGTCCAGCACGAGATGCGGGTCCAGCTTGCCGGCCTGGAGAAGAAAACACATGCATGCGGTCTCACTTCCGTGCCTAGAACAGTCGGAGAATAGTCAGGGAACCCCTATGAACCTGACAGGGCAAGAGCCTAAGGGAGGGGGTCGCTACAGCCCACAGGTTTGGACAATGAAGTCAAAGGATCCAGGTCTGGGAGGGGCCAATGCCACCAAGAGGAAGTGCAGGCTGTGAATGTAGCGTATCTCCTAAGCGAGCCAAGGCCCACCCTGCAGAGAAACGACTGAAGGCTCTGTGCATGCTGGGGGGCTGGAGGGGTGCTTTTGCTGGGGAGACAGACAAGGGCTGAGCACCCCACACCACAGTGCCCTGCCCGGGCCACCCCACCAGGCAGCCGCACCTTCTTCTCGTGGTTGGGGATGATGCAGCGGACAAAGTTGGGGTTCGTGTTCCTCAGCGTAGCCATCAGCTTGGCCAGCTGCTCCTTGTAAAGCTGCCCCACAGTGCGGAACATGCCCTTCCGCGTCTTGAAGGCCCCGGGCAGTGCGGTCTCCGACATGCCGGCCACCTGGTCCAGGCCGATGATGCGGTCCACTGTGGAGACCACAGAGAACACGTGAGTGCCCACACAGTTGCAGCTGGGTGGTGGGGGAGCACGTAGGAGAGAGAGACAGGCACACGTCGGACAGGAAAAGAGGAGACAGAATGAAACAACAGGACCCTTTCCAATTGGAGCCTACACTGGGTGCTAAGGTCATCCCCAAACACAGCGGGAAGCCAAGGGGGATGCAAAGGCACTGGGCTTGTCTCTTGGGGAGCCATGCATCTGCCATGGCCACCTCACCTTCCTGTCACCTATCTTCAGCCACTCTCGAAGCTCTTATTTCCAAAAAGACTCAATGAAGCTAGTCATGTATTTTGGAATAGTGAGAATTCTACTAGCCTGGCTCTAACGAGGGGTGTGAAAACCTGGCTTACGGAATCCTGCTGTCCTATGGTCACAGTTAGAAAAAAAAAAAATCAGTATCTTGAATTCTCACTGACCCTGTCATAAGAGCACTCGGCTGGGAGTCAGGAGGCAGAGCTTGGGGCCACCCTGTCACTGTCTGCAGAACCTTGCAGGGTCCCCTCTATATCTACGCAGACATCTCAGGAAGGGAGAGCTCCAAAGAACTGCTCTTGATTATAAATACTCCAAAGTTTAGGGATCTCTTCACGTACTTGTATTTCATTTTGTCTCCTGGTGCACGGGTCTTTCTCATGTAAACCGACCCTCAAGGGAAGCAGCCCCTAGCACTGGAACTCACACCCAGCAGCAATTAAACCAATTGCATCCTCCAAGGTAAAAAACAAACAAACAAGCCAAACCAAAGTGGCCAGCGATTTGAGATCAGTTTAAGCAAGAGCTAATGTTAAATGTGAAGCCTTCTATTACTGGATATAAAAGTGAAGAATACTGACGAAGCCCGTTTCGTATTCCTTCACGGCCAGATTACTATTATTTACTTGAAGACAGCAAAAAGGATGCTTGCTTAAGACAGAAGCCAGGAGTGTGGATGGAGCCTACAAACCAGTCAATTAAAATGGGAGGTGGCTGGGCATGGTGGCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCAGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAGTTAGCTGGGCGTGGTGGCGGGTGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCATGGCACTCCAGCCTGGGTGACAAGAACAAAACTCTGTCTCAAAAAAAAAAAAAAAGGGAGTCATCTTTGACCTTATGTACCCACCACAGGGTCAATATTCCTGGCTACCACAGGTTTCCTGGGCGTGGTAACTTGCAAAAGCCACTCAGGTTGTCCAGAGAAAGGTTAATGTGGCCTCATCATA
Task1_train_28755
Given this context: Chromosome 22, gene MYH9 (myosin heavy chain 9) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
CAACAGAAGGGCGTGGCAAGGCCTGGCATGCGGGGCAGGAGTATCTCCCGGGACTCACTTCCTGGCCAGGTAGCCCCTGCAGCAGGCCTGGAACCCTATGATGACGTCGGTGATCTTCAGGTCTCGCTCCTCCTCCAGGTGGGCCAGCACACCGGCACGGAAGAAGACTTTGCTCTGGCCAATGCGGTACAGATTGCTGTCGAGCTCCAGGGCTTTTATCTAGGTGGGAGGAGCAGGCCGTTTACCTGGCCAGCAACTGGCCACAGCTCCATGAAAGGGTGGCCCAGGCACAGCTGGAGGTGTGCCCTTCACCCTTCTTCTCACTGGCTGACGAGCATCTGGAGAGCAGAAAGCCATCTCCTCTCCCTCCTTCTTCCTGTTCCCTATCTCCCCGTCACCGAACGCAGGCTGTGCACACAGTAGGTGTTGAATTTTTCCTTCTCTTTTCCTCCCACCAACTCCCTACTCTGCAGCCAAAGCTTTCTGATTCTTTAGAAAGAACGTGAAGTAAAACAAGGCCAAAGGTAGCAGCTGCTAACCTGGACACGCCAGAAACAACAGGATGCTGGGAAGGGGAAAAAAGGAGCAGGGTGGGATTCAGCCCTGGCTTGGCACTGAGTCACCGCAGGGCTTTCAATCAACCGGAACTCAGAGCATGCGCACAGCCCGTCCAGCACTGCGCTAGGGCTGGGAGTGGGGAGGGAGGGAGGAGAAGCCCAGGTCACGGAGCACCAGGCCTGCTGCCCTGGCTGTGAGCTGCCCTGCTCACCACACTGGATGTGGAGTCAGGCCCGTGAGCAAGAAAGCAGGAGAATGTCCCCCAAACCAAAGAGGCCATCATCTTACATCAGAGCCCGGCCATGGCTACAGTTCTTGTCTCCTCCACACAACCCTGGTGCCAAACACCATCCCTGGCTATCTGAGGCCTAGGGGCTACTGCAAAGGGCGCCCGGCAGAGTCAGACGCGGAGCATCAGAAGGGACACAGCCTGGGCATCCACCGACCACTGATATAGCAAGGTGGGCCCTGGCCACGTGGGCACTCCCCAGACAAGGGGCTGCCCATCCAGAGAGGCAGGGACAGCAGCTCAACTCACCATGAGCACGCACGCCTGCTTCCCGTCCATGAAACCCTTGGGAATGGAGTTTGGAGTCAGGATCTCATATCTGAGGAAGGAAAGAGAAGCCTGGTCATTTTACCCATTGCCTCGATTCCACATGCCTGGAATATAGGCGAGAGATTAACATCATTTCTACAATGCAACAGACACAGAATTCTTTACACAAACTCTCCTAAGGAAAGAAGACACAGGCAAATCCCACCCCACTCTTTTCTTCGGCTGAATGAGACAAGGAAGCCTTGGTGTTTTCCGGAAAGTGAATGGAAACTCGTGTAGGACCGTTTCAATCACTCAAGGGCGTGCTTCAGGTTGGACTAAGTGCTAATTGCCTGAGATCCTCATCTGTCACCCAGGGACAGCCATGTTCACACAGCTTCCCTGGGACGCTGCAGGGAGCTGCTAATAAACAGAGATGGCCCAAGAAATAAAGGGCTGCGTCCCGACAGCAACTGACACTCAGCACAGTCATTAGAGAAACAGGAAGGTGTCGCCGTCTTCGCACACAGCAACGCACGGCCGTGTTTCATTTCCACAAAGTTCCTGTAATATCCTAGGTCTCTGGCTGATTCTTTTACATTTCTTTTCATAGCTCCTCTAACTGTAGCAAATAGCACCAGGGCCGGCAGTTACTAGGAGCAAAAGTCAACAGGATGATGATGACCTGCATTTCGGTATTAAAATGGGGAAGTCTCCTTTCCTGCAAAGGGTGGAAAAGAGAAGGAGGTGGGGAAGAGCTGGCCAGACTCAGTTCTACATGGATGGAGGACGTCGCTCCCTCACGACAGGATCCTGCCAGGGAGCAGCAGCCCACCTCTGGGACTCACTGCACGCACAGCAGGGCCCAGGAGAAGCGGGCTCCGGGCCCTGGCTCACCTCTGCCGAAACTCCTGGAAGACCACCCTGTTGGGGAAGCCCTGGCGGCAGATACGGATGCCCTCGAGAACACCGTTGCAGCGCAGCTGGTCCAGCACGAGATGCGGGTCCAGCTTGCCGGCCTGGAGAAGAAAACACATGCATGCGGTCTCACTTCCGTGCCTAGAACAGTCGGAGAATAGTCAGGGAACCCCTATGAACCTGACAGGGCAAGAGCCTAAGGGAGGGGGTCGCTACAGCCCACAGGTTTGGACAATGAAGTCAAAGGATCCAGGTCTGGGAGGGGCCAATGCCACCAAGAGGAAGTGCAGGCTGTGAATGTAGCGTATCTCCTAAGCGAGCCAAGGCCCACCCTGCAGAGAAACGACTGAAGGCTCTGTGCATGCTGGGGGGCTGGAGGGGTGCTTTTGCTGGGGAGACAGACAAGGGCTGAGCACCCCACACCACAGTGCCCTGCCCGGGCCACCCCACCAGGCAGCCGCACCTTCTTCTCGTGGTTGGGGATGATGCAGCGGACAAAGTTGGGGTTCGTGTTCCTCAGCGTAGCCATCAGCTTGGCCAGCTGCTCCTTGTAAAGCTGCCCCACAGTGCGGAACATGCCCTTCCGCGTCTTGAAGGCCCCGGGCAGTGCGGTCTCCGACATGCCGGCCACCTGGTCCAGGCCGATGATGCGGTCCACTGTGGAGACCACAGAGAACACGTGAGTGCCCACACAGTTGCAGCTGGGTGGTGGGGGAGCACGTAGGAGAGAGAGACAGGCACACGTCGGACAGGAAAAGAGGAGACAGAATGAAACAACAGGACCCTTTCCAATTGGAGCCTACACTGGGTGCTAAGGTCATCCCCAAACACAGCGGGAAGCCAAGGGGGATGCAAAGGCACTGGGCTTGTCTCTTGGGGAGCCATGCATCTGCCATGGCCACCTCACCTTCCTGTCACCTATCTTCAGCCACTCTCGAAGCTCTTATTTCCAAAAAGACTCAATGAAGCTAGTCATGTATTTTGGAATAGTGAGAATTCTACTAGCCTGGCTCTAACGAGGGGTGTGAAAACCTGGCTTACGGAATCCTGCTGTCCTATGGTCACAGTTAGAAAAAAAAAAAATCAGTATCTTGAATTCTCACTGACCCTGTCATAAGAGCACTCGGCTGGGAGTCAGGAGGCAGAGCTTGGGGCCACCCTGTCACTGTCTGCAGAACCTTGCAGGGTCCCCTCTATATCTACGCAGACATCTCAGGAAGGGAGAGCTCCAAAGAACTGCTCTTGATTATAAATACTCCAAAGTTTAGGGATCTCTTCACGTACTTGTATTTCATTTTGTCTCCTGGTGCACGGGTCTTTCTCATGTAAACCGACCCTCAAGGGAAGCAGCCCCTAGCACTGGAACTCACACCCAGCAGCAATTAAACCAATTGCATCCTCCAAGGTAAAAAACAAACAAACAAGCCAAACCAAAGTGGCCAGCGATTTGAGATCAGTTTAAGCAAGAGCTAATGTTAAATGTGAAGCCTTCTATTACTGGATATAAAAGTGAAGAATACTGACGAAGCCCGTTTCGTATTCCTTCACGGCCAGATTACTATTATTTACTTGAAGACAGCAAAAAGGATGCTTGCTTAAGACAGAAGCCAGGAGTGTGGATGGAGCCTACAAACCAGTCAATTAAAATGGGAGGTGGCTGGGCATGGTGGCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCAGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAGTTAGCTGGGCGTGGTGGCGGGTGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCATGGCACTCCAGCCTGGGTGACAAGAACAAAACTCTGTCTCAAAAAAAAAAAAAAAGGGAGTCATCTTTGACCTTATGTACCCACCACAGGGTCAATATTCCTGGCTACCACAGGTTTCCTGGGCGTGGTAACTTGCAAAAGCCACTCAGGTTGTCCAGAGAAAGGTTAATGTGGCCTCATCATA
CAACAGAAGGGCGTGGCAAGGCCTGGCATGCGGGGCAGGAGTATCTCCCGGGACTCACTTCCTGGCCAGGTAGCCCCTGCAGCAGGCCTGGAACCCTATGATGACGTCGGTGATCTTCAGGTCTCGCTCCTCCTCCAGGTGGGCCAGCACACCGGCACGGAAGAAGACTTTGCTCTGGCCAATGCGGTACAGATTGCTGTCGAGCTCCAGGGCTTTTATCTAGGTGGGAGGAGCAGGCCGTTTACCTGGCCAGCAACTGGCCACAGCTCCATGAAAGGGTGGCCCAGGCACAGCTGGAGGTGTGCCCTTCACCCTTCTTCTCACTGGCTGACGAGCATCTGGAGAGCAGAAAGCCATCTCCTCTCCCTCCTTCTTCCTGTTCCCTATCTCCCCGTCACCGAACGCAGGCTGTGCACACAGTAGGTGTTGAATTTTTCCTTCTCTTTTCCTCCCACCAACTCCCTACTCTGCAGCCAAAGCTTTCTGATTCTTTAGAAAGAACGTGAAGTAAAACAAGGCCAAAGGTAGCAGCTGCTAACCTGGACACGCCAGAAACAACAGGATGCTGGGAAGGGGAAAAAAGGAGCAGGGTGGGATTCAGCCCTGGCTTGGCACTGAGTCACCGCAGGGCTTTCAATCAACCGGAACTCAGAGCATGCGCACAGCCCGTCCAGCACTGCGCTAGGGCTGGGAGTGGGGAGGGAGGGAGGAGAAGCCCAGGTCACGGAGCACCAGGCCTGCTGCCCTGGCTGTGAGCTGCCCTGCTCACCACACTGGATGTGGAGTCAGGCCCGTGAGCAAGAAAGCAGGAGAATGTCCCCCAAACCAAAGAGGCCATCATCTTACATCAGAGCCCGGCCATGGCTACAGTTCTTGTCTCCTCCACACAACCCTGGTGCCAAACACCATCCCTGGCTATCTGAGGCCTAGGGGCTACTGCAAAGGGCGCCCGGCAGAGTCAGACGCGGAGCATCAGAAGGGACACAGCCTGGGCATCCACCGACCACTGATATAGCAAGGTGGGCCCTGGCCACGTGGGCACTCCCCAGACAAGGGGCTGCCCATCCAGAGAGGCAGGGACAGCAGCTCAACTCACCATGAGCACGCACGCCTGCTTCCCGTCCATGAAACCCTTGGGAATGGAGTTTGGAGTCAGGATCTCATATCTGAGGAAGGAAAGAGAAGCCTGGTCATTTTACCCATTGCCTCGATTCCACATGCCTGGAATATAGGCGAGAGATTAACATCATTTCTACAATGCAACAGACACAGAATTCTTTACACAAACTCTCCTAAGGAAAGAAGACACAGGCAAATCCCACCCCACTCTTTTCTTCGGCTGAATGAGACAAGGAAGCCTTGGTGTTTTCCGGAAAGTGAATGGAAACTCGTGTAGGACCGTTTCAATCACTCAAGGGCGTGCTTCAGGTTGGACTAAGTGCTAATTGCCTGAGATCCTCATCTGTCACCCAGGGACAGCCATGTTCACACAGCTTCCCTGGGACGCTGCAGGGAGCTGCTAATAAACAGAGATGGCCCAAGAAATAAAGGGCTGCGTCCCGACAGCAACTGACACTCAGCACAGTCATTAGAGAAACAGGAAGGTGTCGCCGTCTTCGCACACAGCAACGCACGGCCGTGTTTCATTTCCACAAAGTTCCTGTAATATCCTAGGTCTCTGGCTGATTCTTTTACATTTCTTTTCATAGCTCCTCTAACTGTAGCAAATAGCACCAGGGCCGGCAGTTACTAGGAGCAAAAGTCAACAGGATGATGATGACCTGCATTTCGGTATTAAAATGGGGAAGTCTCCTTTCCTGCAAAGGGTGGAAAAGAGAAGGAGGTGGGGAAGAGCTGGCCAGACTCAGTTCTACATGGATGGAGGACGTCGCTCCCTCACGACAGGATCCTGCCAGGGAGCAGCAGCCCACCTCTGGGACTCACTGCACGCACAGCAGGGCCCAGGAGAAGCGGGCTCCGGGCCCTGGCTCACCTCTGCCGAAACTCCTGGAAGACCACCCTGTTGGGGAAGCCCTGGCGGCAGATACAGATGCCCTCGAGAACACCGTTGCAGCGCAGCTGGTCCAGCACGAGATGCGGGTCCAGCTTGCCGGCCTGGAGAAGAAAACACATGCATGCGGTCTCACTTCCGTGCCTAGAACAGTCGGAGAATAGTCAGGGAACCCCTATGAACCTGACAGGGCAAGAGCCTAAGGGAGGGGGTCGCTACAGCCCACAGGTTTGGACAATGAAGTCAAAGGATCCAGGTCTGGGAGGGGCCAATGCCACCAAGAGGAAGTGCAGGCTGTGAATGTAGCGTATCTCCTAAGCGAGCCAAGGCCCACCCTGCAGAGAAACGACTGAAGGCTCTGTGCATGCTGGGGGGCTGGAGGGGTGCTTTTGCTGGGGAGACAGACAAGGGCTGAGCACCCCACACCACAGTGCCCTGCCCGGGCCACCCCACCAGGCAGCCGCACCTTCTTCTCGTGGTTGGGGATGATGCAGCGGACAAAGTTGGGGTTCGTGTTCCTCAGCGTAGCCATCAGCTTGGCCAGCTGCTCCTTGTAAAGCTGCCCCACAGTGCGGAACATGCCCTTCCGCGTCTTGAAGGCCCCGGGCAGTGCGGTCTCCGACATGCCGGCCACCTGGTCCAGGCCGATGATGCGGTCCACTGTGGAGACCACAGAGAACACGTGAGTGCCCACACAGTTGCAGCTGGGTGGTGGGGGAGCACGTAGGAGAGAGAGACAGGCACACGTCGGACAGGAAAAGAGGAGACAGAATGAAACAACAGGACCCTTTCCAATTGGAGCCTACACTGGGTGCTAAGGTCATCCCCAAACACAGCGGGAAGCCAAGGGGGATGCAAAGGCACTGGGCTTGTCTCTTGGGGAGCCATGCATCTGCCATGGCCACCTCACCTTCCTGTCACCTATCTTCAGCCACTCTCGAAGCTCTTATTTCCAAAAAGACTCAATGAAGCTAGTCATGTATTTTGGAATAGTGAGAATTCTACTAGCCTGGCTCTAACGAGGGGTGTGAAAACCTGGCTTACGGAATCCTGCTGTCCTATGGTCACAGTTAGAAAAAAAAAAAATCAGTATCTTGAATTCTCACTGACCCTGTCATAAGAGCACTCGGCTGGGAGTCAGGAGGCAGAGCTTGGGGCCACCCTGTCACTGTCTGCAGAACCTTGCAGGGTCCCCTCTATATCTACGCAGACATCTCAGGAAGGGAGAGCTCCAAAGAACTGCTCTTGATTATAAATACTCCAAAGTTTAGGGATCTCTTCACGTACTTGTATTTCATTTTGTCTCCTGGTGCACGGGTCTTTCTCATGTAAACCGACCCTCAAGGGAAGCAGCCCCTAGCACTGGAACTCACACCCAGCAGCAATTAAACCAATTGCATCCTCCAAGGTAAAAAACAAACAAACAAGCCAAACCAAAGTGGCCAGCGATTTGAGATCAGTTTAAGCAAGAGCTAATGTTAAATGTGAAGCCTTCTATTACTGGATATAAAAGTGAAGAATACTGACGAAGCCCGTTTCGTATTCCTTCACGGCCAGATTACTATTATTTACTTGAAGACAGCAAAAAGGATGCTTGCTTAAGACAGAAGCCAGGAGTGTGGATGGAGCCTACAAACCAGTCAATTAAAATGGGAGGTGGCTGGGCATGGTGGCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCAGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAGTTAGCTGGGCGTGGTGGCGGGTGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCATGGCACTCCAGCCTGGGTGACAAGAACAAAACTCTGTCTCAAAAAAAAAAAAAAAGGGAGTCATCTTTGACCTTATGTACCCACCACAGGGTCAATATTCCTGGCTACCACAGGTTTCCTGGGCGTGGTAACTTGCAAAAGCCACTCAGGTTGTCCAGAGAAAGGTTAATGTGGCCTCATCATA
Task1_train_28756
The gene MYH9 (myosin heavy chain 9) is located on Chromosome 22, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; not provided
CAACAGAAGGGCGTGGCAAGGCCTGGCATGCGGGGCAGGAGTATCTCCCGGGACTCACTTCCTGGCCAGGTAGCCCCTGCAGCAGGCCTGGAACCCTATGATGACGTCGGTGATCTTCAGGTCTCGCTCCTCCTCCAGGTGGGCCAGCACACCGGCACGGAAGAAGACTTTGCTCTGGCCAATGCGGTACAGATTGCTGTCGAGCTCCAGGGCTTTTATCTAGGTGGGAGGAGCAGGCCGTTTACCTGGCCAGCAACTGGCCACAGCTCCATGAAAGGGTGGCCCAGGCACAGCTGGAGGTGTGCCCTTCACCCTTCTTCTCACTGGCTGACGAGCATCTGGAGAGCAGAAAGCCATCTCCTCTCCCTCCTTCTTCCTGTTCCCTATCTCCCCGTCACCGAACGCAGGCTGTGCACACAGTAGGTGTTGAATTTTTCCTTCTCTTTTCCTCCCACCAACTCCCTACTCTGCAGCCAAAGCTTTCTGATTCTTTAGAAAGAACGTGAAGTAAAACAAGGCCAAAGGTAGCAGCTGCTAACCTGGACACGCCAGAAACAACAGGATGCTGGGAAGGGGAAAAAAGGAGCAGGGTGGGATTCAGCCCTGGCTTGGCACTGAGTCACCGCAGGGCTTTCAATCAACCGGAACTCAGAGCATGCGCACAGCCCGTCCAGCACTGCGCTAGGGCTGGGAGTGGGGAGGGAGGGAGGAGAAGCCCAGGTCACGGAGCACCAGGCCTGCTGCCCTGGCTGTGAGCTGCCCTGCTCACCACACTGGATGTGGAGTCAGGCCCGTGAGCAAGAAAGCAGGAGAATGTCCCCCAAACCAAAGAGGCCATCATCTTACATCAGAGCCCGGCCATGGCTACAGTTCTTGTCTCCTCCACACAACCCTGGTGCCAAACACCATCCCTGGCTATCTGAGGCCTAGGGGCTACTGCAAAGGGCGCCCGGCAGAGTCAGACGCGGAGCATCAGAAGGGACACAGCCTGGGCATCCACCGACCACTGATATAGCAAGGTGGGCCCTGGCCACGTGGGCACTCCCCAGACAAGGGGCTGCCCATCCAGAGAGGCAGGGACAGCAGCTCAACTCACCATGAGCACGCACGCCTGCTTCCCGTCCATGAAACCCTTGGGAATGGAGTTTGGAGTCAGGATCTCATATCTGAGGAAGGAAAGAGAAGCCTGGTCATTTTACCCATTGCCTCGATTCCACATGCCTGGAATATAGGCGAGAGATTAACATCATTTCTACAATGCAACAGACACAGAATTCTTTACACAAACTCTCCTAAGGAAAGAAGACACAGGCAAATCCCACCCCACTCTTTTCTTCGGCTGAATGAGACAAGGAAGCCTTGGTGTTTTCCGGAAAGTGAATGGAAACTCGTGTAGGACCGTTTCAATCACTCAAGGGCGTGCTTCAGGTTGGACTAAGTGCTAATTGCCTGAGATCCTCATCTGTCACCCAGGGACAGCCATGTTCACACAGCTTCCCTGGGACGCTGCAGGGAGCTGCTAATAAACAGAGATGGCCCAAGAAATAAAGGGCTGCGTCCCGACAGCAACTGACACTCAGCACAGTCATTAGAGAAACAGGAAGGTGTCGCCGTCTTCGCACACAGCAACGCACGGCCGTGTTTCATTTCCACAAAGTTCCTGTAATATCCTAGGTCTCTGGCTGATTCTTTTACATTTCTTTTCATAGCTCCTCTAACTGTAGCAAATAGCACCAGGGCCGGCAGTTACTAGGAGCAAAAGTCAACAGGATGATGATGACCTGCATTTCGGTATTAAAATGGGGAAGTCTCCTTTCCTGCAAAGGGTGGAAAAGAGAAGGAGGTGGGGAAGAGCTGGCCAGACTCAGTTCTACATGGATGGAGGACGTCGCTCCCTCACGACAGGATCCTGCCAGGGAGCAGCAGCCCACCTCTGGGACTCACTGCACGCACAGCAGGGCCCAGGAGAAGCGGGCTCCGGGCCCTGGCTCACCTCTGCCGAAACTCCTGGAAGACCACCCTGTTGGGGAAGCCCTGGCGGCAGATACGGATGCCCTCGAGAACACCGTTGCAGCGCAGCTGGTCCAGCACGAGATGCGGGTCCAGCTTGCCGGCCTGGAGAAGAAAACACATGCATGCGGTCTCACTTCCGTGCCTAGAACAGTCGGAGAATAGTCAGGGAACCCCTATGAACCTGACAGGGCAAGAGCCTAAGGGAGGGGGTCGCTACAGCCCACAGGTTTGGACAATGAAGTCAAAGGATCCAGGTCTGGGAGGGGCCAATGCCACCAAGAGGAAGTGCAGGCTGTGAATGTAGCGTATCTCCTAAGCGAGCCAAGGCCCACCCTGCAGAGAAACGACTGAAGGCTCTGTGCATGCTGGGGGGCTGGAGGGGTGCTTTTGCTGGGGAGACAGACAAGGGCTGAGCACCCCACACCACAGTGCCCTGCCCGGGCCACCCCACCAGGCAGCCGCACCTTCTTCTCGTGGTTGGGGATGATGCAGCGGACAAAGTTGGGGTTCGTGTTCCTCAGCGTAGCCATCAGCTTGGCCAGCTGCTCCTTGTAAAGCTGCCCCACAGTGCGGAACATGCCCTTCCGCGTCTTGAAGGCCCCGGGCAGTGCGGTCTCCGACATGCCGGCCACCTGGTCCAGGCCGATGATGCGGTCCACTGTGGAGACCACAGAGAACACGTGAGTGCCCACACAGTTGCAGCTGGGTGGTGGGGGAGCACGTAGGAGAGAGAGACAGGCACACGTCGGACAGGAAAAGAGGAGACAGAATGAAACAACAGGACCCTTTCCAATTGGAGCCTACACTGGGTGCTAAGGTCATCCCCAAACACAGCGGGAAGCCAAGGGGGATGCAAAGGCACTGGGCTTGTCTCTTGGGGAGCCATGCATCTGCCATGGCCACCTCACCTTCCTGTCACCTATCTTCAGCCACTCTCGAAGCTCTTATTTCCAAAAAGACTCAATGAAGCTAGTCATGTATTTTGGAATAGTGAGAATTCTACTAGCCTGGCTCTAACGAGGGGTGTGAAAACCTGGCTTACGGAATCCTGCTGTCCTATGGTCACAGTTAGAAAAAAAAAAAATCAGTATCTTGAATTCTCACTGACCCTGTCATAAGAGCACTCGGCTGGGAGTCAGGAGGCAGAGCTTGGGGCCACCCTGTCACTGTCTGCAGAACCTTGCAGGGTCCCCTCTATATCTACGCAGACATCTCAGGAAGGGAGAGCTCCAAAGAACTGCTCTTGATTATAAATACTCCAAAGTTTAGGGATCTCTTCACGTACTTGTATTTCATTTTGTCTCCTGGTGCACGGGTCTTTCTCATGTAAACCGACCCTCAAGGGAAGCAGCCCCTAGCACTGGAACTCACACCCAGCAGCAATTAAACCAATTGCATCCTCCAAGGTAAAAAACAAACAAACAAGCCAAACCAAAGTGGCCAGCGATTTGAGATCAGTTTAAGCAAGAGCTAATGTTAAATGTGAAGCCTTCTATTACTGGATATAAAAGTGAAGAATACTGACGAAGCCCGTTTCGTATTCCTTCACGGCCAGATTACTATTATTTACTTGAAGACAGCAAAAAGGATGCTTGCTTAAGACAGAAGCCAGGAGTGTGGATGGAGCCTACAAACCAGTCAATTAAAATGGGAGGTGGCTGGGCATGGTGGCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCAGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAGTTAGCTGGGCGTGGTGGCGGGTGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCATGGCACTCCAGCCTGGGTGACAAGAACAAAACTCTGTCTCAAAAAAAAAAAAAAAGGGAGTCATCTTTGACCTTATGTACCCACCACAGGGTCAATATTCCTGGCTACCACAGGTTTCCTGGGCGTGGTAACTTGCAAAAGCCACTCAGGTTGTCCAGAGAAAGGTTAATGTGGCCTCATCATA
CAACAGAAGGGCGTGGCAAGGCCTGGCATGCGGGGCAGGAGTATCTCCCGGGACTCACTTCCTGGCCAGGTAGCCCCTGCAGCAGGCCTGGAACCCTATGATGACGTCGGTGATCTTCAGGTCTCGCTCCTCCTCCAGGTGGGCCAGCACACCGGCACGGAAGAAGACTTTGCTCTGGCCAATGCGGTACAGATTGCTGTCGAGCTCCAGGGCTTTTATCTAGGTGGGAGGAGCAGGCCGTTTACCTGGCCAGCAACTGGCCACAGCTCCATGAAAGGGTGGCCCAGGCACAGCTGGAGGTGTGCCCTTCACCCTTCTTCTCACTGGCTGACGAGCATCTGGAGAGCAGAAAGCCATCTCCTCTCCCTCCTTCTTCCTGTTCCCTATCTCCCCGTCACCGAACGCAGGCTGTGCACACAGTAGGTGTTGAATTTTTCCTTCTCTTTTCCTCCCACCAACTCCCTACTCTGCAGCCAAAGCTTTCTGATTCTTTAGAAAGAACGTGAAGTAAAACAAGGCCAAAGGTAGCAGCTGCTAACCTGGACACGCCAGAAACAACAGGATGCTGGGAAGGGGAAAAAAGGAGCAGGGTGGGATTCAGCCCTGGCTTGGCACTGAGTCACCGCAGGGCTTTCAATCAACCGGAACTCAGAGCATGCGCACAGCCCGTCCAGCACTGCGCTAGGGCTGGGAGTGGGGAGGGAGGGAGGAGAAGCCCAGGTCACGGAGCACCAGGCCTGCTGCCCTGGCTGTGAGCTGCCCTGCTCACCACACTGGATGTGGAGTCAGGCCCGTGAGCAAGAAAGCAGGAGAATGTCCCCCAAACCAAAGAGGCCATCATCTTACATCAGAGCCCGGCCATGGCTACAGTTCTTGTCTCCTCCACACAACCCTGGTGCCAAACACCATCCCTGGCTATCTGAGGCCTAGGGGCTACTGCAAAGGGCGCCCGGCAGAGTCAGACGCGGAGCATCAGAAGGGACACAGCCTGGGCATCCACCGACCACTGATATAGCAAGGTGGGCCCTGGCCACGTGGGCACTCCCCAGACAAGGGGCTGCCCATCCAGAGAGGCAGGGACAGCAGCTCAACTCACCATGAGCACGCACGCCTGCTTCCCGTCCATGAAACCCTTGGGAATGGAGTTTGGAGTCAGGATCTCATATCTGAGGAAGGAAAGAGAAGCCTGGTCATTTTACCCATTGCCTCGATTCCACATGCCTGGAATATAGGCGAGAGATTAACATCATTTCTACAATGCAACAGACACAGAATTCTTTACACAAACTCTCCTAAGGAAAGAAGACACAGGCAAATCCCACCCCACTCTTTTCTTCGGCTGAATGAGACAAGGAAGCCTTGGTGTTTTCCGGAAAGTGAATGGAAACTCGTGTAGGACCGTTTCAATCACTCAAGGGCGTGCTTCAGGTTGGACTAAGTGCTAATTGCCTGAGATCCTCATCTGTCACCCAGGGACAGCCATGTTCACACAGCTTCCCTGGGACGCTGCAGGGAGCTGCTAATAAACAGAGATGGCCCAAGAAATAAAGGGCTGCGTCCCGACAGCAACTGACACTCAGCACAGTCATTAGAGAAACAGGAAGGTGTCGCCGTCTTCGCACACAGCAACGCACGGCCGTGTTTCATTTCCACAAAGTTCCTGTAATATCCTAGGTCTCTGGCTGATTCTTTTACATTTCTTTTCATAGCTCCTCTAACTGTAGCAAATAGCACCAGGGCCGGCAGTTACTAGGAGCAAAAGTCAACAGGATGATGATGACCTGCATTTCGGTATTAAAATGGGGAAGTCTCCTTTCCTGCAAAGGGTGGAAAAGAGAAGGAGGTGGGGAAGAGCTGGCCAGACTCAGTTCTACATGGATGGAGGACGTCGCTCCCTCACGACAGGATCCTGCCAGGGAGCAGCAGCCCACCTCTGGGACTCACTGCACGCACAGCAGGGCCCAGGAGAAGCGGGCTCCGGGCCCTGGCTCACCTCTGCCGAAACTCCTGGAAGACCACCCTGTTGGGGAAGCCCTGGCGGCAGATACCGATGCCCTCGAGAACACCGTTGCAGCGCAGCTGGTCCAGCACGAGATGCGGGTCCAGCTTGCCGGCCTGGAGAAGAAAACACATGCATGCGGTCTCACTTCCGTGCCTAGAACAGTCGGAGAATAGTCAGGGAACCCCTATGAACCTGACAGGGCAAGAGCCTAAGGGAGGGGGTCGCTACAGCCCACAGGTTTGGACAATGAAGTCAAAGGATCCAGGTCTGGGAGGGGCCAATGCCACCAAGAGGAAGTGCAGGCTGTGAATGTAGCGTATCTCCTAAGCGAGCCAAGGCCCACCCTGCAGAGAAACGACTGAAGGCTCTGTGCATGCTGGGGGGCTGGAGGGGTGCTTTTGCTGGGGAGACAGACAAGGGCTGAGCACCCCACACCACAGTGCCCTGCCCGGGCCACCCCACCAGGCAGCCGCACCTTCTTCTCGTGGTTGGGGATGATGCAGCGGACAAAGTTGGGGTTCGTGTTCCTCAGCGTAGCCATCAGCTTGGCCAGCTGCTCCTTGTAAAGCTGCCCCACAGTGCGGAACATGCCCTTCCGCGTCTTGAAGGCCCCGGGCAGTGCGGTCTCCGACATGCCGGCCACCTGGTCCAGGCCGATGATGCGGTCCACTGTGGAGACCACAGAGAACACGTGAGTGCCCACACAGTTGCAGCTGGGTGGTGGGGGAGCACGTAGGAGAGAGAGACAGGCACACGTCGGACAGGAAAAGAGGAGACAGAATGAAACAACAGGACCCTTTCCAATTGGAGCCTACACTGGGTGCTAAGGTCATCCCCAAACACAGCGGGAAGCCAAGGGGGATGCAAAGGCACTGGGCTTGTCTCTTGGGGAGCCATGCATCTGCCATGGCCACCTCACCTTCCTGTCACCTATCTTCAGCCACTCTCGAAGCTCTTATTTCCAAAAAGACTCAATGAAGCTAGTCATGTATTTTGGAATAGTGAGAATTCTACTAGCCTGGCTCTAACGAGGGGTGTGAAAACCTGGCTTACGGAATCCTGCTGTCCTATGGTCACAGTTAGAAAAAAAAAAAATCAGTATCTTGAATTCTCACTGACCCTGTCATAAGAGCACTCGGCTGGGAGTCAGGAGGCAGAGCTTGGGGCCACCCTGTCACTGTCTGCAGAACCTTGCAGGGTCCCCTCTATATCTACGCAGACATCTCAGGAAGGGAGAGCTCCAAAGAACTGCTCTTGATTATAAATACTCCAAAGTTTAGGGATCTCTTCACGTACTTGTATTTCATTTTGTCTCCTGGTGCACGGGTCTTTCTCATGTAAACCGACCCTCAAGGGAAGCAGCCCCTAGCACTGGAACTCACACCCAGCAGCAATTAAACCAATTGCATCCTCCAAGGTAAAAAACAAACAAACAAGCCAAACCAAAGTGGCCAGCGATTTGAGATCAGTTTAAGCAAGAGCTAATGTTAAATGTGAAGCCTTCTATTACTGGATATAAAAGTGAAGAATACTGACGAAGCCCGTTTCGTATTCCTTCACGGCCAGATTACTATTATTTACTTGAAGACAGCAAAAAGGATGCTTGCTTAAGACAGAAGCCAGGAGTGTGGATGGAGCCTACAAACCAGTCAATTAAAATGGGAGGTGGCTGGGCATGGTGGCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCAGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAGTTAGCTGGGCGTGGTGGCGGGTGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCATGGCACTCCAGCCTGGGTGACAAGAACAAAACTCTGTCTCAAAAAAAAAAAAAAAGGGAGTCATCTTTGACCTTATGTACCCACCACAGGGTCAATATTCCTGGCTACCACAGGTTTCCTGGGCGTGGTAACTTGCAAAAGCCACTCAGGTTGTCCAGAGAAAGGTTAATGTGGCCTCATCATA
Task1_train_28757
A sequence alteration has been identified in MYH9 (myosin heavy chain 9) on Chromosome 22. Is it disease-inducing or harmless?
Pathogenic; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
GTAACCTCTTCATGGCTTTTTTCCACTAGGTCAAAAACATTTTGAGGACTGTTTTATTCAGCCCAAAGTTCAAGGTGGCTAGGGCAACATAAAGAAATAAAGAGCTATTTTAGGAATAATAACAAGCAGATATTTCTTTCCCACTGGGGACAAAACCAGAAGGAAATATCTTTGAGTTGAACAGAGGAATTTGGGGTTGATATTGGACAGGACTTTGTGACCCCAGAGCCCGTTGCCTCTGGGATGCATAAATGCTCATCTCCCTGTCTCCTAACTTGGTGATGGACTGCGTTTCTGCATTTTCTTTCTTGCCAGAAGAAAGAAAATGACGCCCCTGATCTGCTGCATGTGCTGGCCCTTTGCACATGCTGCTCTCTGGACTCTCAATACACTTCCCCTTGGTCAAGCCTGGCAAGGGACCAGCACTAAAGTGCTGGACAGAGTCCCAGAGCAAGTCTTACTCTTGGTGGCTCACCTCTGCTCAAAGCACACTCCCTAGGGAAGTAACCCACACCAACAAGCATCCGTAAAGAACAAGATGGGCTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCCAAGCAGAAGAATCACTTGTGCTCAGGAGTTCGAGACCAGCCCTAGGCAACATAATGAGACCCTGTCTCTAATAAAAATATTAAAAATTAGCCAGGCGTGGTGGCACAGGCCTGTAGTCCCAGCCACCAGAGAGGCTAAGGTGGGAGGATCGCTTGAGCCTAAGAGTTTGAGGCTGCAGTGAGCTGTGATCATGCCACTGCACTCCAGTCTGGGCAACAGAGCTACTTTGGGAGGCTGAGGTGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGACTGGCCAATTAAAAAAGACCCTGTCTCAAAAAAAAAAAAAAAAAACAATAGTAAGATGGCAGAGATACCAAAAATGGGCTTGGGGCAAATGGTGAAGGGAGAGGAGATCCAGTGATGCAAGAGGAACAAAGCAGGAAACCAGGAACTGGCACTCCCTACTTTAGAAGGAATCTACTACATTTTTAAAGTGCAAAAAGCTTATTGGAAAGAAATCAAAAGAGATAAAGATATTTTTAAAAATATCTTTTAAAATATTTCATTATTTTAATAATATAATAAATAATAAATAAATAAAATATTTAAAATATTTTATTTTAAGATATTTTTTAAAATATTTTAAATAATTAAGATATTTTATTTAAAAAAATTTTTAAAGATATTTAAAAAATAAAATGTTAAAAAAGAAGATTTTTTAAAGATATTATTAAAAATAATTAAAATTCAAAAAAACAGGCCAGGTGCGGTGGCTCGCGCCTGTAATGCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGCATTCAAGACCAGCCTCGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCAGGCATTATGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTCAGGAAGGAAAATCGCTTGAACCCAGGAGACAGAGGTTACAGTGAGCCAAGATCACACCATTGCACTCCAGCGGGGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAATTAAATTAAATTAAATTAAATTAAAAAAGAAGGAATCTACAACATTGACCTGAACCTTCATATTTCCACCAAAACTTGAGAACGAAGGCCAGTGGGTGGCCATCCCTCAGACAGGGCCATATTCTTCTCCCTACGTATGTTCTAAAACAGGCTTCCTGTTTTGCTTTTGGCTGCAAAGGGAAAAGAATAATGCTATAAGAACATCCCACTAGGATGTTCAGATGTCAAAGTTCAAGGATGTCACCCCAGCACTCCTTCAAGCCCCCTTCTCAACCAGAGAGCCAGGGCCCAGGCACGTGAGGGTGATGGGAAGACCCGCCCCCCCCCCCCACCTCGGAGCCCTCAGACCCAGCCTGCGGGGTGCCACGGCAGCCACTTACGTAGATGAGCCCTGAGTAGTAACGCTCCTTGAGGTTGTGCAGCACCGAGGCTTCGTTGAGGCACGTGAGCTCTGCCATGTCCTCCACCTTGGAGAACTTGGGCGGGTTCATCTTCTGGATGTCATCCTTGTTCACCTTCACCTTCTTCCCATTCTCCACCAGCTCCACGATGGCCTCTTCGCCCACCTCCTCCTTGAGGCTGGCTGGCTCAAAGCCACTCTTGTCGGAAGGCACCCATACCAGCTTCTTGGCAGCCCAGTCGGCCTGGGCCAGCGGATTGTTGATGAAGTTTTTATCCACATAGAGATACTTATCGGCAGCTTGCTGTGCCATGGTGACTTATAGCCAGGACCTAAGCGGGGAGGAGAAGGACAACACATTACATACAACTACGTCAGCCACACAAGATCACTCATGCTCACACCTCTTCTCTTTGCAAACTGTATAGGATTAAGACACAGTAAAACTCTATATAACCAGGCTGCACAACTTTCTTGCTCCACACTTTTGGGATAAAGATGTGCATCACTGAAAAAACAAGTTGGGCCCAGGACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGCATATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACCTGGTGAAAACCCATCTCTACTAAAAATACAAAAATTAACCAGGCGTGGTGGTGCACACCTGTCATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCAGCTCACACCACTGCACTCCAGCCTGGGCAACAGAAAAACAAGCTGATAGCAGGGATTTTGTTAGCAACTAATGGTAAGGTGTATCGCCCTAGGGTCAATCCACAATCAAGAAAACTATTGTGCCAAATGAACATAACAAGAGTCTCAAAGACAGATGCAATTCAAGTCGCTATGCTACAGATACAAAGGTAGCAAAGTAGCCACACAGTTTGGGAGGATTTCCAACAAAAACAGGTTTCTAATCAGCCAAAAAACACAACTGACTACAACCCCACATAGTGGAAGTTTCCAGTTTAAAAAACTTGTTATTAGTTCATGAAGTCAACTAAGACAAGAGAAGAAAATAAAACATCAGTACATGTTGCCACCAGATTTTAATTCCATCTTGATAATACAGCCCAAAAAAAGCACAGAGAAAAGATGCCAGGTTCCAAGAAACATGGAGAATGCTAAGAGTGCTTCCCTTTGGGGACACTAAGGTCAAAAGTGACCCTCACAATTCATGAGCCAAGAGAACTTAAGTTCATGTGTGTTTGCTTTTTTCAAAACTCATTTGCAAAATGAAGATATAAAATAGGCTGGGGACACTGGCTCAGGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCAGGGCGTGGTGGCGCATGCCTGTAATCCTAGCTGCTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGGGGTTGTGGTGAGCCGAGATTGTGCCATGGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAGACATAAAATAACAATGCCTTATATATCTGTATGGTTTTATAGTTTATGAAATGCTTTCACACATATTTCGCTATCTCGAAAGGTCTTTGTAGTAACAACTCTGTAAACCAGGTAAGGTATATATTATTACCACCAATTTACAGATGAGGAAACAAGCTCCCTGGATGTAAGGGGCTTCTCCATAGTCATCCAGTCCTGTGGCCTTTCCACGACTAACACCATCGTTATTCCTGCTCAGAGGCGCAGGCTGGGATCACCTGAGGTGACTACCCTAGTGTAAAACTGACTCAGCTTGTGGCCACCAGAGGAGGCAGCCCAGAAGCTCACTGCCCAGCTCCCGCTGGGAAATCAAGGAAGATCAGGAAGGTTTTTTTTCCCTCTATGAGATCAAGCCCCCTCCCCTCAGGCCCCTGCAATCCAGGAAGTCCCCAGATCCAAACACGGAACACCATGGGCTTT
GTAACCTCTTCATGGCTTTTTTCCACTAGGTCAAAAACATTTTGAGGACTGTTTTATTCAGCCCAAAGTTCAAGGTGGCTAGGGCAACATAAAGAAATAAAGAGCTATTTTAGGAATAATAACAAGCAGATATTTCTTTCCCACTGGGGACAAAACCAGAAGGAAATATCTTTGAGTTGAACAGAGGAATTTGGGGTTGATATTGGACAGGACTTTGTGACCCCAGAGCCCGTTGCCTCTGGGATGCATAAATGCTCATCTCCCTGTCTCCTAACTTGGTGATGGACTGCGTTTCTGCATTTTCTTTCTTGCCAGAAGAAAGAAAATGACGCCCCTGATCTGCTGCATGTGCTGGCCCTTTGCACATGCTGCTCTCTGGACTCTCAATACACTTCCCCTTGGTCAAGCCTGGCAAGGGACCAGCACTAAAGTGCTGGACAGAGTCCCAGAGCAAGTCTTACTCTTGGTGGCTCACCTCTGCTCAAAGCACACTCCCTAGGGAAGTAACCCACACCAACAAGCATCCGTAAAGAACAAGATGGGCTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCCAAGCAGAAGAATCACTTGTGCTCAGGAGTTCGAGACCAGCCCTAGGCAACATAATGAGACCCTGTCTCTAATAAAAATATTAAAAATTAGCCAGGCGTGGTGGCACAGGCCTGTAGTCCCAGCCACCAGAGAGGCTAAGGTGGGAGGATCGCTTGAGCCTAAGAGTTTGAGGCTGCAGTGAGCTGTGATCATGCCACTGCACTCCAGTCTGGGCAACAGAGCTACTTTGGGAGGCTGAGGTGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGACTGGCCAATTAAAAAAGACCCTGTCTCAAAAAAAAAAAAAAAAAACAATAGTAAGATGGCAGAGATACCAAAAATGGGCTTGGGGCAAATGGTGAAGGGAGAGGAGATCCAGTGATGCAAGAGGAACAAAGCAGGAAACCAGGAACTGGCACTCCCTACTTTAGAAGGAATCTACTACATTTTTAAAGTGCAAAAAGCTTATTGGAAAGAAATCAAAAGAGATAAAGATATTTTTAAAAATATCTTTTAAAATATTTCATTATTTTAATAATATAATAAATAATAAATAAATAAAATATTTAAAATATTTTATTTTAAGATATTTTTTAAAATATTTTAAATAATTAAGATATTTTATTTAAAAAAATTTTTAAAGATATTTAAAAAATAAAATGTTAAAAAAGAAGATTTTTTAAAGATATTATTAAAAATAATTAAAATTCAAAAAAACAGGCCAGGTGCGGTGGCTCGCGCCTGTAATGCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGCATTCAAGACCAGCCTCGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCAGGCATTATGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTCAGGAAGGAAAATCGCTTGAACCCAGGAGACAGAGGTTACAGTGAGCCAAGATCACACCATTGCACTCCAGCGGGGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAATTAAATTAAATTAAATTAAATTAAAAAAGAAGGAATCTACAACATTGACCTGAACCTTCATATTTCCACCAAAACTTGAGAACGAAGGCCAGTGGGTGGCCATCCCTCAGACAGGGCCATATTCTTCTCCCTACGTATGTTCTAAAACAGGCTTCCTGTTTTGCTTTTGGCTGCAAAGGGAAAAGAATAATGCTATAAGAACATCCCACTAGGATGTTCAGATGTCAAAGTTCAAGGATGTCACCCCAGCACTCCTTCAAGCCCCCTTCTCAACCAGAGAGCCAGGGCCCAGGCACGTGAGGGTGATGGGAAGACCCGCCCCCCCCCCCCACCTCGGAGCCCTCAGACCCAGCCTGCGGGGTGCCACGGCAGCCACTTACGTAGATGAGCCCTGAGTAGTAACGCTCCTTGAGGTTGTGCAGCACCGAGGCTTCCTTGAGGCACGTGAGCTCTGCCATGTCCTCCACCTTGGAGAACTTGGGCGGGTTCATCTTCTGGATGTCATCCTTGTTCACCTTCACCTTCTTCCCATTCTCCACCAGCTCCACGATGGCCTCTTCGCCCACCTCCTCCTTGAGGCTGGCTGGCTCAAAGCCACTCTTGTCGGAAGGCACCCATACCAGCTTCTTGGCAGCCCAGTCGGCCTGGGCCAGCGGATTGTTGATGAAGTTTTTATCCACATAGAGATACTTATCGGCAGCTTGCTGTGCCATGGTGACTTATAGCCAGGACCTAAGCGGGGAGGAGAAGGACAACACATTACATACAACTACGTCAGCCACACAAGATCACTCATGCTCACACCTCTTCTCTTTGCAAACTGTATAGGATTAAGACACAGTAAAACTCTATATAACCAGGCTGCACAACTTTCTTGCTCCACACTTTTGGGATAAAGATGTGCATCACTGAAAAAACAAGTTGGGCCCAGGACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGCATATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACCTGGTGAAAACCCATCTCTACTAAAAATACAAAAATTAACCAGGCGTGGTGGTGCACACCTGTCATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCAGCTCACACCACTGCACTCCAGCCTGGGCAACAGAAAAACAAGCTGATAGCAGGGATTTTGTTAGCAACTAATGGTAAGGTGTATCGCCCTAGGGTCAATCCACAATCAAGAAAACTATTGTGCCAAATGAACATAACAAGAGTCTCAAAGACAGATGCAATTCAAGTCGCTATGCTACAGATACAAAGGTAGCAAAGTAGCCACACAGTTTGGGAGGATTTCCAACAAAAACAGGTTTCTAATCAGCCAAAAAACACAACTGACTACAACCCCACATAGTGGAAGTTTCCAGTTTAAAAAACTTGTTATTAGTTCATGAAGTCAACTAAGACAAGAGAAGAAAATAAAACATCAGTACATGTTGCCACCAGATTTTAATTCCATCTTGATAATACAGCCCAAAAAAAGCACAGAGAAAAGATGCCAGGTTCCAAGAAACATGGAGAATGCTAAGAGTGCTTCCCTTTGGGGACACTAAGGTCAAAAGTGACCCTCACAATTCATGAGCCAAGAGAACTTAAGTTCATGTGTGTTTGCTTTTTTCAAAACTCATTTGCAAAATGAAGATATAAAATAGGCTGGGGACACTGGCTCAGGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCAGGGCGTGGTGGCGCATGCCTGTAATCCTAGCTGCTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGGGGTTGTGGTGAGCCGAGATTGTGCCATGGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAGACATAAAATAACAATGCCTTATATATCTGTATGGTTTTATAGTTTATGAAATGCTTTCACACATATTTCGCTATCTCGAAAGGTCTTTGTAGTAACAACTCTGTAAACCAGGTAAGGTATATATTATTACCACCAATTTACAGATGAGGAAACAAGCTCCCTGGATGTAAGGGGCTTCTCCATAGTCATCCAGTCCTGTGGCCTTTCCACGACTAACACCATCGTTATTCCTGCTCAGAGGCGCAGGCTGGGATCACCTGAGGTGACTACCCTAGTGTAAAACTGACTCAGCTTGTGGCCACCAGAGGAGGCAGCCCAGAAGCTCACTGCCCAGCTCCCGCTGGGAAATCAAGGAAGATCAGGAAGGTTTTTTTTCCCTCTATGAGATCAAGCCCCCTCCCCTCAGGCCCCTGCAATCCAGGAAGTCCCCAGATCCAAACACGGAACACCATGGGCTTT
Task1_train_28758
An alteration has been detected in MYH9 (myosin heavy chain 9) on Chromosome 22. Is it pathogenic, and if so, what disease is involved?
Pathogenic; MYH9-related disorder
GTAACCTCTTCATGGCTTTTTTCCACTAGGTCAAAAACATTTTGAGGACTGTTTTATTCAGCCCAAAGTTCAAGGTGGCTAGGGCAACATAAAGAAATAAAGAGCTATTTTAGGAATAATAACAAGCAGATATTTCTTTCCCACTGGGGACAAAACCAGAAGGAAATATCTTTGAGTTGAACAGAGGAATTTGGGGTTGATATTGGACAGGACTTTGTGACCCCAGAGCCCGTTGCCTCTGGGATGCATAAATGCTCATCTCCCTGTCTCCTAACTTGGTGATGGACTGCGTTTCTGCATTTTCTTTCTTGCCAGAAGAAAGAAAATGACGCCCCTGATCTGCTGCATGTGCTGGCCCTTTGCACATGCTGCTCTCTGGACTCTCAATACACTTCCCCTTGGTCAAGCCTGGCAAGGGACCAGCACTAAAGTGCTGGACAGAGTCCCAGAGCAAGTCTTACTCTTGGTGGCTCACCTCTGCTCAAAGCACACTCCCTAGGGAAGTAACCCACACCAACAAGCATCCGTAAAGAACAAGATGGGCTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCCAAGCAGAAGAATCACTTGTGCTCAGGAGTTCGAGACCAGCCCTAGGCAACATAATGAGACCCTGTCTCTAATAAAAATATTAAAAATTAGCCAGGCGTGGTGGCACAGGCCTGTAGTCCCAGCCACCAGAGAGGCTAAGGTGGGAGGATCGCTTGAGCCTAAGAGTTTGAGGCTGCAGTGAGCTGTGATCATGCCACTGCACTCCAGTCTGGGCAACAGAGCTACTTTGGGAGGCTGAGGTGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGACTGGCCAATTAAAAAAGACCCTGTCTCAAAAAAAAAAAAAAAAAACAATAGTAAGATGGCAGAGATACCAAAAATGGGCTTGGGGCAAATGGTGAAGGGAGAGGAGATCCAGTGATGCAAGAGGAACAAAGCAGGAAACCAGGAACTGGCACTCCCTACTTTAGAAGGAATCTACTACATTTTTAAAGTGCAAAAAGCTTATTGGAAAGAAATCAAAAGAGATAAAGATATTTTTAAAAATATCTTTTAAAATATTTCATTATTTTAATAATATAATAAATAATAAATAAATAAAATATTTAAAATATTTTATTTTAAGATATTTTTTAAAATATTTTAAATAATTAAGATATTTTATTTAAAAAAATTTTTAAAGATATTTAAAAAATAAAATGTTAAAAAAGAAGATTTTTTAAAGATATTATTAAAAATAATTAAAATTCAAAAAAACAGGCCAGGTGCGGTGGCTCGCGCCTGTAATGCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGCATTCAAGACCAGCCTCGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCAGGCATTATGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTCAGGAAGGAAAATCGCTTGAACCCAGGAGACAGAGGTTACAGTGAGCCAAGATCACACCATTGCACTCCAGCGGGGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAATTAAATTAAATTAAATTAAATTAAAAAAGAAGGAATCTACAACATTGACCTGAACCTTCATATTTCCACCAAAACTTGAGAACGAAGGCCAGTGGGTGGCCATCCCTCAGACAGGGCCATATTCTTCTCCCTACGTATGTTCTAAAACAGGCTTCCTGTTTTGCTTTTGGCTGCAAAGGGAAAAGAATAATGCTATAAGAACATCCCACTAGGATGTTCAGATGTCAAAGTTCAAGGATGTCACCCCAGCACTCCTTCAAGCCCCCTTCTCAACCAGAGAGCCAGGGCCCAGGCACGTGAGGGTGATGGGAAGACCCGCCCCCCCCCCCCACCTCGGAGCCCTCAGACCCAGCCTGCGGGGTGCCACGGCAGCCACTTACGTAGATGAGCCCTGAGTAGTAACGCTCCTTGAGGTTGTGCAGCACCGAGGCTTCGTTGAGGCACGTGAGCTCTGCCATGTCCTCCACCTTGGAGAACTTGGGCGGGTTCATCTTCTGGATGTCATCCTTGTTCACCTTCACCTTCTTCCCATTCTCCACCAGCTCCACGATGGCCTCTTCGCCCACCTCCTCCTTGAGGCTGGCTGGCTCAAAGCCACTCTTGTCGGAAGGCACCCATACCAGCTTCTTGGCAGCCCAGTCGGCCTGGGCCAGCGGATTGTTGATGAAGTTTTTATCCACATAGAGATACTTATCGGCAGCTTGCTGTGCCATGGTGACTTATAGCCAGGACCTAAGCGGGGAGGAGAAGGACAACACATTACATACAACTACGTCAGCCACACAAGATCACTCATGCTCACACCTCTTCTCTTTGCAAACTGTATAGGATTAAGACACAGTAAAACTCTATATAACCAGGCTGCACAACTTTCTTGCTCCACACTTTTGGGATAAAGATGTGCATCACTGAAAAAACAAGTTGGGCCCAGGACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGCATATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACCTGGTGAAAACCCATCTCTACTAAAAATACAAAAATTAACCAGGCGTGGTGGTGCACACCTGTCATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCAGCTCACACCACTGCACTCCAGCCTGGGCAACAGAAAAACAAGCTGATAGCAGGGATTTTGTTAGCAACTAATGGTAAGGTGTATCGCCCTAGGGTCAATCCACAATCAAGAAAACTATTGTGCCAAATGAACATAACAAGAGTCTCAAAGACAGATGCAATTCAAGTCGCTATGCTACAGATACAAAGGTAGCAAAGTAGCCACACAGTTTGGGAGGATTTCCAACAAAAACAGGTTTCTAATCAGCCAAAAAACACAACTGACTACAACCCCACATAGTGGAAGTTTCCAGTTTAAAAAACTTGTTATTAGTTCATGAAGTCAACTAAGACAAGAGAAGAAAATAAAACATCAGTACATGTTGCCACCAGATTTTAATTCCATCTTGATAATACAGCCCAAAAAAAGCACAGAGAAAAGATGCCAGGTTCCAAGAAACATGGAGAATGCTAAGAGTGCTTCCCTTTGGGGACACTAAGGTCAAAAGTGACCCTCACAATTCATGAGCCAAGAGAACTTAAGTTCATGTGTGTTTGCTTTTTTCAAAACTCATTTGCAAAATGAAGATATAAAATAGGCTGGGGACACTGGCTCAGGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCAGGGCGTGGTGGCGCATGCCTGTAATCCTAGCTGCTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGGGGTTGTGGTGAGCCGAGATTGTGCCATGGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAGACATAAAATAACAATGCCTTATATATCTGTATGGTTTTATAGTTTATGAAATGCTTTCACACATATTTCGCTATCTCGAAAGGTCTTTGTAGTAACAACTCTGTAAACCAGGTAAGGTATATATTATTACCACCAATTTACAGATGAGGAAACAAGCTCCCTGGATGTAAGGGGCTTCTCCATAGTCATCCAGTCCTGTGGCCTTTCCACGACTAACACCATCGTTATTCCTGCTCAGAGGCGCAGGCTGGGATCACCTGAGGTGACTACCCTAGTGTAAAACTGACTCAGCTTGTGGCCACCAGAGGAGGCAGCCCAGAAGCTCACTGCCCAGCTCCCGCTGGGAAATCAAGGAAGATCAGGAAGGTTTTTTTTCCCTCTATGAGATCAAGCCCCCTCCCCTCAGGCCCCTGCAATCCAGGAAGTCCCCAGATCCAAACACGGAACACCATGGGCTTT
GTAACCTCTTCATGGCTTTTTTCCACTAGGTCAAAAACATTTTGAGGACTGTTTTATTCAGCCCAAAGTTCAAGGTGGCTAGGGCAACATAAAGAAATAAAGAGCTATTTTAGGAATAATAACAAGCAGATATTTCTTTCCCACTGGGGACAAAACCAGAAGGAAATATCTTTGAGTTGAACAGAGGAATTTGGGGTTGATATTGGACAGGACTTTGTGACCCCAGAGCCCGTTGCCTCTGGGATGCATAAATGCTCATCTCCCTGTCTCCTAACTTGGTGATGGACTGCGTTTCTGCATTTTCTTTCTTGCCAGAAGAAAGAAAATGACGCCCCTGATCTGCTGCATGTGCTGGCCCTTTGCACATGCTGCTCTCTGGACTCTCAATACACTTCCCCTTGGTCAAGCCTGGCAAGGGACCAGCACTAAAGTGCTGGACAGAGTCCCAGAGCAAGTCTTACTCTTGGTGGCTCACCTCTGCTCAAAGCACACTCCCTAGGGAAGTAACCCACACCAACAAGCATCCGTAAAGAACAAGATGGGCTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCCAAGCAGAAGAATCACTTGTGCTCAGGAGTTCGAGACCAGCCCTAGGCAACATAATGAGACCCTGTCTCTAATAAAAATATTAAAAATTAGCCAGGCGTGGTGGCACAGGCCTGTAGTCCCAGCCACCAGAGAGGCTAAGGTGGGAGGATCGCTTGAGCCTAAGAGTTTGAGGCTGCAGTGAGCTGTGATCATGCCACTGCACTCCAGTCTGGGCAACAGAGCTACTTTGGGAGGCTGAGGTGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGACTGGCCAATTAAAAAAGACCCTGTCTCAAAAAAAAAAAAAAAAAACAATAGTAAGATGGCAGAGATACCAAAAATGGGCTTGGGGCAAATGGTGAAGGGAGAGGAGATCCAGTGATGCAAGAGGAACAAAGCAGGAAACCAGGAACTGGCACTCCCTACTTTAGAAGGAATCTACTACATTTTTAAAGTGCAAAAAGCTTATTGGAAAGAAATCAAAAGAGATAAAGATATTTTTAAAAATATCTTTTAAAATATTTCATTATTTTAATAATATAATAAATAATAAATAAATAAAATATTTAAAATATTTTATTTTAAGATATTTTTTAAAATATTTTAAATAATTAAGATATTTTATTTAAAAAAATTTTTAAAGATATTTAAAAAATAAAATGTTAAAAAAGAAGATTTTTTAAAGATATTATTAAAAATAATTAAAATTCAAAAAAACAGGCCAGGTGCGGTGGCTCGCGCCTGTAATGCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGCATTCAAGACCAGCCTCGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCAGGCATTATGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTCAGGAAGGAAAATCGCTTGAACCCAGGAGACAGAGGTTACAGTGAGCCAAGATCACACCATTGCACTCCAGCGGGGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAATTAAATTAAATTAAATTAAATTAAAAAAGAAGGAATCTACAACATTGACCTGAACCTTCATATTTCCACCAAAACTTGAGAACGAAGGCCAGTGGGTGGCCATCCCTCAGACAGGGCCATATTCTTCTCCCTACGTATGTTCTAAAACAGGCTTCCTGTTTTGCTTTTGGCTGCAAAGGGAAAAGAATAATGCTATAAGAACATCCCACTAGGATGTTCAGATGTCAAAGTTCAAGGATGTCACCCCAGCACTCCTTCAAGCCCCCTTCTCAACCAGAGAGCCAGGGCCCAGGCACGTGAGGGTGATGGGAAGACCCGCCCCCCCCCCCCACCTCGGAGCCCTCAGACCCAGCCTGCGGGGTGCCACGGCAGCCACTTACGTAGATGAGCCCTGAGTAGTAACGCTCCTTGAGGTTGTGCAGCACCGAGGCTTCCTTGAGGCACGTGAGCTCTGCCATGTCCTCCACCTTGGAGAACTTGGGCGGGTTCATCTTCTGGATGTCATCCTTGTTCACCTTCACCTTCTTCCCATTCTCCACCAGCTCCACGATGGCCTCTTCGCCCACCTCCTCCTTGAGGCTGGCTGGCTCAAAGCCACTCTTGTCGGAAGGCACCCATACCAGCTTCTTGGCAGCCCAGTCGGCCTGGGCCAGCGGATTGTTGATGAAGTTTTTATCCACATAGAGATACTTATCGGCAGCTTGCTGTGCCATGGTGACTTATAGCCAGGACCTAAGCGGGGAGGAGAAGGACAACACATTACATACAACTACGTCAGCCACACAAGATCACTCATGCTCACACCTCTTCTCTTTGCAAACTGTATAGGATTAAGACACAGTAAAACTCTATATAACCAGGCTGCACAACTTTCTTGCTCCACACTTTTGGGATAAAGATGTGCATCACTGAAAAAACAAGTTGGGCCCAGGACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGCATATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACCTGGTGAAAACCCATCTCTACTAAAAATACAAAAATTAACCAGGCGTGGTGGTGCACACCTGTCATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCAGCTCACACCACTGCACTCCAGCCTGGGCAACAGAAAAACAAGCTGATAGCAGGGATTTTGTTAGCAACTAATGGTAAGGTGTATCGCCCTAGGGTCAATCCACAATCAAGAAAACTATTGTGCCAAATGAACATAACAAGAGTCTCAAAGACAGATGCAATTCAAGTCGCTATGCTACAGATACAAAGGTAGCAAAGTAGCCACACAGTTTGGGAGGATTTCCAACAAAAACAGGTTTCTAATCAGCCAAAAAACACAACTGACTACAACCCCACATAGTGGAAGTTTCCAGTTTAAAAAACTTGTTATTAGTTCATGAAGTCAACTAAGACAAGAGAAGAAAATAAAACATCAGTACATGTTGCCACCAGATTTTAATTCCATCTTGATAATACAGCCCAAAAAAAGCACAGAGAAAAGATGCCAGGTTCCAAGAAACATGGAGAATGCTAAGAGTGCTTCCCTTTGGGGACACTAAGGTCAAAAGTGACCCTCACAATTCATGAGCCAAGAGAACTTAAGTTCATGTGTGTTTGCTTTTTTCAAAACTCATTTGCAAAATGAAGATATAAAATAGGCTGGGGACACTGGCTCAGGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCAGGGCGTGGTGGCGCATGCCTGTAATCCTAGCTGCTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGGGGTTGTGGTGAGCCGAGATTGTGCCATGGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAGACATAAAATAACAATGCCTTATATATCTGTATGGTTTTATAGTTTATGAAATGCTTTCACACATATTTCGCTATCTCGAAAGGTCTTTGTAGTAACAACTCTGTAAACCAGGTAAGGTATATATTATTACCACCAATTTACAGATGAGGAAACAAGCTCCCTGGATGTAAGGGGCTTCTCCATAGTCATCCAGTCCTGTGGCCTTTCCACGACTAACACCATCGTTATTCCTGCTCAGAGGCGCAGGCTGGGATCACCTGAGGTGACTACCCTAGTGTAAAACTGACTCAGCTTGTGGCCACCAGAGGAGGCAGCCCAGAAGCTCACTGCCCAGCTCCCGCTGGGAAATCAAGGAAGATCAGGAAGGTTTTTTTTCCCTCTATGAGATCAAGCCCCCTCCCCTCAGGCCCCTGCAATCCAGGAAGTCCCCAGATCCAAACACGGAACACCATGGGCTTT
Task1_train_28759
Gene MYH9 (myosin heavy chain 9) on Chromosome 22 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; not specified
AACCTCTTCATGGCTTTTTTCCACTAGGTCAAAAACATTTTGAGGACTGTTTTATTCAGCCCAAAGTTCAAGGTGGCTAGGGCAACATAAAGAAATAAAGAGCTATTTTAGGAATAATAACAAGCAGATATTTCTTTCCCACTGGGGACAAAACCAGAAGGAAATATCTTTGAGTTGAACAGAGGAATTTGGGGTTGATATTGGACAGGACTTTGTGACCCCAGAGCCCGTTGCCTCTGGGATGCATAAATGCTCATCTCCCTGTCTCCTAACTTGGTGATGGACTGCGTTTCTGCATTTTCTTTCTTGCCAGAAGAAAGAAAATGACGCCCCTGATCTGCTGCATGTGCTGGCCCTTTGCACATGCTGCTCTCTGGACTCTCAATACACTTCCCCTTGGTCAAGCCTGGCAAGGGACCAGCACTAAAGTGCTGGACAGAGTCCCAGAGCAAGTCTTACTCTTGGTGGCTCACCTCTGCTCAAAGCACACTCCCTAGGGAAGTAACCCACACCAACAAGCATCCGTAAAGAACAAGATGGGCTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCCAAGCAGAAGAATCACTTGTGCTCAGGAGTTCGAGACCAGCCCTAGGCAACATAATGAGACCCTGTCTCTAATAAAAATATTAAAAATTAGCCAGGCGTGGTGGCACAGGCCTGTAGTCCCAGCCACCAGAGAGGCTAAGGTGGGAGGATCGCTTGAGCCTAAGAGTTTGAGGCTGCAGTGAGCTGTGATCATGCCACTGCACTCCAGTCTGGGCAACAGAGCTACTTTGGGAGGCTGAGGTGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGACTGGCCAATTAAAAAAGACCCTGTCTCAAAAAAAAAAAAAAAAAACAATAGTAAGATGGCAGAGATACCAAAAATGGGCTTGGGGCAAATGGTGAAGGGAGAGGAGATCCAGTGATGCAAGAGGAACAAAGCAGGAAACCAGGAACTGGCACTCCCTACTTTAGAAGGAATCTACTACATTTTTAAAGTGCAAAAAGCTTATTGGAAAGAAATCAAAAGAGATAAAGATATTTTTAAAAATATCTTTTAAAATATTTCATTATTTTAATAATATAATAAATAATAAATAAATAAAATATTTAAAATATTTTATTTTAAGATATTTTTTAAAATATTTTAAATAATTAAGATATTTTATTTAAAAAAATTTTTAAAGATATTTAAAAAATAAAATGTTAAAAAAGAAGATTTTTTAAAGATATTATTAAAAATAATTAAAATTCAAAAAAACAGGCCAGGTGCGGTGGCTCGCGCCTGTAATGCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGCATTCAAGACCAGCCTCGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCAGGCATTATGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTCAGGAAGGAAAATCGCTTGAACCCAGGAGACAGAGGTTACAGTGAGCCAAGATCACACCATTGCACTCCAGCGGGGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAATTAAATTAAATTAAATTAAATTAAAAAAGAAGGAATCTACAACATTGACCTGAACCTTCATATTTCCACCAAAACTTGAGAACGAAGGCCAGTGGGTGGCCATCCCTCAGACAGGGCCATATTCTTCTCCCTACGTATGTTCTAAAACAGGCTTCCTGTTTTGCTTTTGGCTGCAAAGGGAAAAGAATAATGCTATAAGAACATCCCACTAGGATGTTCAGATGTCAAAGTTCAAGGATGTCACCCCAGCACTCCTTCAAGCCCCCTTCTCAACCAGAGAGCCAGGGCCCAGGCACGTGAGGGTGATGGGAAGACCCGCCCCCCCCCCCCACCTCGGAGCCCTCAGACCCAGCCTGCGGGGTGCCACGGCAGCCACTTACGTAGATGAGCCCTGAGTAGTAACGCTCCTTGAGGTTGTGCAGCACCGAGGCTTCGTTGAGGCACGTGAGCTCTGCCATGTCCTCCACCTTGGAGAACTTGGGCGGGTTCATCTTCTGGATGTCATCCTTGTTCACCTTCACCTTCTTCCCATTCTCCACCAGCTCCACGATGGCCTCTTCGCCCACCTCCTCCTTGAGGCTGGCTGGCTCAAAGCCACTCTTGTCGGAAGGCACCCATACCAGCTTCTTGGCAGCCCAGTCGGCCTGGGCCAGCGGATTGTTGATGAAGTTTTTATCCACATAGAGATACTTATCGGCAGCTTGCTGTGCCATGGTGACTTATAGCCAGGACCTAAGCGGGGAGGAGAAGGACAACACATTACATACAACTACGTCAGCCACACAAGATCACTCATGCTCACACCTCTTCTCTTTGCAAACTGTATAGGATTAAGACACAGTAAAACTCTATATAACCAGGCTGCACAACTTTCTTGCTCCACACTTTTGGGATAAAGATGTGCATCACTGAAAAAACAAGTTGGGCCCAGGACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGCATATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACCTGGTGAAAACCCATCTCTACTAAAAATACAAAAATTAACCAGGCGTGGTGGTGCACACCTGTCATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCAGCTCACACCACTGCACTCCAGCCTGGGCAACAGAAAAACAAGCTGATAGCAGGGATTTTGTTAGCAACTAATGGTAAGGTGTATCGCCCTAGGGTCAATCCACAATCAAGAAAACTATTGTGCCAAATGAACATAACAAGAGTCTCAAAGACAGATGCAATTCAAGTCGCTATGCTACAGATACAAAGGTAGCAAAGTAGCCACACAGTTTGGGAGGATTTCCAACAAAAACAGGTTTCTAATCAGCCAAAAAACACAACTGACTACAACCCCACATAGTGGAAGTTTCCAGTTTAAAAAACTTGTTATTAGTTCATGAAGTCAACTAAGACAAGAGAAGAAAATAAAACATCAGTACATGTTGCCACCAGATTTTAATTCCATCTTGATAATACAGCCCAAAAAAAGCACAGAGAAAAGATGCCAGGTTCCAAGAAACATGGAGAATGCTAAGAGTGCTTCCCTTTGGGGACACTAAGGTCAAAAGTGACCCTCACAATTCATGAGCCAAGAGAACTTAAGTTCATGTGTGTTTGCTTTTTTCAAAACTCATTTGCAAAATGAAGATATAAAATAGGCTGGGGACACTGGCTCAGGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCAGGGCGTGGTGGCGCATGCCTGTAATCCTAGCTGCTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGGGGTTGTGGTGAGCCGAGATTGTGCCATGGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAGACATAAAATAACAATGCCTTATATATCTGTATGGTTTTATAGTTTATGAAATGCTTTCACACATATTTCGCTATCTCGAAAGGTCTTTGTAGTAACAACTCTGTAAACCAGGTAAGGTATATATTATTACCACCAATTTACAGATGAGGAAACAAGCTCCCTGGATGTAAGGGGCTTCTCCATAGTCATCCAGTCCTGTGGCCTTTCCACGACTAACACCATCGTTATTCCTGCTCAGAGGCGCAGGCTGGGATCACCTGAGGTGACTACCCTAGTGTAAAACTGACTCAGCTTGTGGCCACCAGAGGAGGCAGCCCAGAAGCTCACTGCCCAGCTCCCGCTGGGAAATCAAGGAAGATCAGGAAGGTTTTTTTTCCCTCTATGAGATCAAGCCCCCTCCCCTCAGGCCCCTGCAATCCAGGAAGTCCCCAGATCCAAACACGGAACACCATGGGCTTTTG
AACCTCTTCATGGCTTTTTTCCACTAGGTCAAAAACATTTTGAGGACTGTTTTATTCAGCCCAAAGTTCAAGGTGGCTAGGGCAACATAAAGAAATAAAGAGCTATTTTAGGAATAATAACAAGCAGATATTTCTTTCCCACTGGGGACAAAACCAGAAGGAAATATCTTTGAGTTGAACAGAGGAATTTGGGGTTGATATTGGACAGGACTTTGTGACCCCAGAGCCCGTTGCCTCTGGGATGCATAAATGCTCATCTCCCTGTCTCCTAACTTGGTGATGGACTGCGTTTCTGCATTTTCTTTCTTGCCAGAAGAAAGAAAATGACGCCCCTGATCTGCTGCATGTGCTGGCCCTTTGCACATGCTGCTCTCTGGACTCTCAATACACTTCCCCTTGGTCAAGCCTGGCAAGGGACCAGCACTAAAGTGCTGGACAGAGTCCCAGAGCAAGTCTTACTCTTGGTGGCTCACCTCTGCTCAAAGCACACTCCCTAGGGAAGTAACCCACACCAACAAGCATCCGTAAAGAACAAGATGGGCTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCCAAGCAGAAGAATCACTTGTGCTCAGGAGTTCGAGACCAGCCCTAGGCAACATAATGAGACCCTGTCTCTAATAAAAATATTAAAAATTAGCCAGGCGTGGTGGCACAGGCCTGTAGTCCCAGCCACCAGAGAGGCTAAGGTGGGAGGATCGCTTGAGCCTAAGAGTTTGAGGCTGCAGTGAGCTGTGATCATGCCACTGCACTCCAGTCTGGGCAACAGAGCTACTTTGGGAGGCTGAGGTGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGACTGGCCAATTAAAAAAGACCCTGTCTCAAAAAAAAAAAAAAAAAACAATAGTAAGATGGCAGAGATACCAAAAATGGGCTTGGGGCAAATGGTGAAGGGAGAGGAGATCCAGTGATGCAAGAGGAACAAAGCAGGAAACCAGGAACTGGCACTCCCTACTTTAGAAGGAATCTACTACATTTTTAAAGTGCAAAAAGCTTATTGGAAAGAAATCAAAAGAGATAAAGATATTTTTAAAAATATCTTTTAAAATATTTCATTATTTTAATAATATAATAAATAATAAATAAATAAAATATTTAAAATATTTTATTTTAAGATATTTTTTAAAATATTTTAAATAATTAAGATATTTTATTTAAAAAAATTTTTAAAGATATTTAAAAAATAAAATGTTAAAAAAGAAGATTTTTTAAAGATATTATTAAAAATAATTAAAATTCAAAAAAACAGGCCAGGTGCGGTGGCTCGCGCCTGTAATGCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGCATTCAAGACCAGCCTCGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCAGGCATTATGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTCAGGAAGGAAAATCGCTTGAACCCAGGAGACAGAGGTTACAGTGAGCCAAGATCACACCATTGCACTCCAGCGGGGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAATTAAATTAAATTAAATTAAATTAAAAAAGAAGGAATCTACAACATTGACCTGAACCTTCATATTTCCACCAAAACTTGAGAACGAAGGCCAGTGGGTGGCCATCCCTCAGACAGGGCCATATTCTTCTCCCTACGTATGTTCTAAAACAGGCTTCCTGTTTTGCTTTTGGCTGCAAAGGGAAAAGAATAATGCTATAAGAACATCCCACTAGGATGTTCAGATGTCAAAGTTCAAGGATGTCACCCCAGCACTCCTTCAAGCCCCCTTCTCAACCAGAGAGCCAGGGCCCAGGCACGTGAGGGTGATGGGAAGACCCGCCCCCCCCCCCCACCTCGGAGCCCTCAGACCCAGCCTGCGGGGTGCCACGGCAGCCACTTACGTAGATGAGCCCTGAGTAGTAACGCTCCTTGAGGTTGTGCAGCACCGAGGCTTCGTCGAGGCACGTGAGCTCTGCCATGTCCTCCACCTTGGAGAACTTGGGCGGGTTCATCTTCTGGATGTCATCCTTGTTCACCTTCACCTTCTTCCCATTCTCCACCAGCTCCACGATGGCCTCTTCGCCCACCTCCTCCTTGAGGCTGGCTGGCTCAAAGCCACTCTTGTCGGAAGGCACCCATACCAGCTTCTTGGCAGCCCAGTCGGCCTGGGCCAGCGGATTGTTGATGAAGTTTTTATCCACATAGAGATACTTATCGGCAGCTTGCTGTGCCATGGTGACTTATAGCCAGGACCTAAGCGGGGAGGAGAAGGACAACACATTACATACAACTACGTCAGCCACACAAGATCACTCATGCTCACACCTCTTCTCTTTGCAAACTGTATAGGATTAAGACACAGTAAAACTCTATATAACCAGGCTGCACAACTTTCTTGCTCCACACTTTTGGGATAAAGATGTGCATCACTGAAAAAACAAGTTGGGCCCAGGACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGCATATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACCTGGTGAAAACCCATCTCTACTAAAAATACAAAAATTAACCAGGCGTGGTGGTGCACACCTGTCATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCAGCTCACACCACTGCACTCCAGCCTGGGCAACAGAAAAACAAGCTGATAGCAGGGATTTTGTTAGCAACTAATGGTAAGGTGTATCGCCCTAGGGTCAATCCACAATCAAGAAAACTATTGTGCCAAATGAACATAACAAGAGTCTCAAAGACAGATGCAATTCAAGTCGCTATGCTACAGATACAAAGGTAGCAAAGTAGCCACACAGTTTGGGAGGATTTCCAACAAAAACAGGTTTCTAATCAGCCAAAAAACACAACTGACTACAACCCCACATAGTGGAAGTTTCCAGTTTAAAAAACTTGTTATTAGTTCATGAAGTCAACTAAGACAAGAGAAGAAAATAAAACATCAGTACATGTTGCCACCAGATTTTAATTCCATCTTGATAATACAGCCCAAAAAAAGCACAGAGAAAAGATGCCAGGTTCCAAGAAACATGGAGAATGCTAAGAGTGCTTCCCTTTGGGGACACTAAGGTCAAAAGTGACCCTCACAATTCATGAGCCAAGAGAACTTAAGTTCATGTGTGTTTGCTTTTTTCAAAACTCATTTGCAAAATGAAGATATAAAATAGGCTGGGGACACTGGCTCAGGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCAGGGCGTGGTGGCGCATGCCTGTAATCCTAGCTGCTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGGGGTTGTGGTGAGCCGAGATTGTGCCATGGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAGACATAAAATAACAATGCCTTATATATCTGTATGGTTTTATAGTTTATGAAATGCTTTCACACATATTTCGCTATCTCGAAAGGTCTTTGTAGTAACAACTCTGTAAACCAGGTAAGGTATATATTATTACCACCAATTTACAGATGAGGAAACAAGCTCCCTGGATGTAAGGGGCTTCTCCATAGTCATCCAGTCCTGTGGCCTTTCCACGACTAACACCATCGTTATTCCTGCTCAGAGGCGCAGGCTGGGATCACCTGAGGTGACTACCCTAGTGTAAAACTGACTCAGCTTGTGGCCACCAGAGGAGGCAGCCCAGAAGCTCACTGCCCAGCTCCCGCTGGGAAATCAAGGAAGATCAGGAAGGTTTTTTTTCCCTCTATGAGATCAAGCCCCCTCCCCTCAGGCCCCTGCAATCCAGGAAGTCCCCAGATCCAAACACGGAACACCATGGGCTTTTG
Task1_train_28760
A mutation found in MYH9 (myosin heavy chain 9) on Chromosome 22 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
AACCTCTTCATGGCTTTTTTCCACTAGGTCAAAAACATTTTGAGGACTGTTTTATTCAGCCCAAAGTTCAAGGTGGCTAGGGCAACATAAAGAAATAAAGAGCTATTTTAGGAATAATAACAAGCAGATATTTCTTTCCCACTGGGGACAAAACCAGAAGGAAATATCTTTGAGTTGAACAGAGGAATTTGGGGTTGATATTGGACAGGACTTTGTGACCCCAGAGCCCGTTGCCTCTGGGATGCATAAATGCTCATCTCCCTGTCTCCTAACTTGGTGATGGACTGCGTTTCTGCATTTTCTTTCTTGCCAGAAGAAAGAAAATGACGCCCCTGATCTGCTGCATGTGCTGGCCCTTTGCACATGCTGCTCTCTGGACTCTCAATACACTTCCCCTTGGTCAAGCCTGGCAAGGGACCAGCACTAAAGTGCTGGACAGAGTCCCAGAGCAAGTCTTACTCTTGGTGGCTCACCTCTGCTCAAAGCACACTCCCTAGGGAAGTAACCCACACCAACAAGCATCCGTAAAGAACAAGATGGGCTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCCAAGCAGAAGAATCACTTGTGCTCAGGAGTTCGAGACCAGCCCTAGGCAACATAATGAGACCCTGTCTCTAATAAAAATATTAAAAATTAGCCAGGCGTGGTGGCACAGGCCTGTAGTCCCAGCCACCAGAGAGGCTAAGGTGGGAGGATCGCTTGAGCCTAAGAGTTTGAGGCTGCAGTGAGCTGTGATCATGCCACTGCACTCCAGTCTGGGCAACAGAGCTACTTTGGGAGGCTGAGGTGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGACTGGCCAATTAAAAAAGACCCTGTCTCAAAAAAAAAAAAAAAAAACAATAGTAAGATGGCAGAGATACCAAAAATGGGCTTGGGGCAAATGGTGAAGGGAGAGGAGATCCAGTGATGCAAGAGGAACAAAGCAGGAAACCAGGAACTGGCACTCCCTACTTTAGAAGGAATCTACTACATTTTTAAAGTGCAAAAAGCTTATTGGAAAGAAATCAAAAGAGATAAAGATATTTTTAAAAATATCTTTTAAAATATTTCATTATTTTAATAATATAATAAATAATAAATAAATAAAATATTTAAAATATTTTATTTTAAGATATTTTTTAAAATATTTTAAATAATTAAGATATTTTATTTAAAAAAATTTTTAAAGATATTTAAAAAATAAAATGTTAAAAAAGAAGATTTTTTAAAGATATTATTAAAAATAATTAAAATTCAAAAAAACAGGCCAGGTGCGGTGGCTCGCGCCTGTAATGCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGCATTCAAGACCAGCCTCGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCAGGCATTATGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTCAGGAAGGAAAATCGCTTGAACCCAGGAGACAGAGGTTACAGTGAGCCAAGATCACACCATTGCACTCCAGCGGGGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAATTAAATTAAATTAAATTAAATTAAAAAAGAAGGAATCTACAACATTGACCTGAACCTTCATATTTCCACCAAAACTTGAGAACGAAGGCCAGTGGGTGGCCATCCCTCAGACAGGGCCATATTCTTCTCCCTACGTATGTTCTAAAACAGGCTTCCTGTTTTGCTTTTGGCTGCAAAGGGAAAAGAATAATGCTATAAGAACATCCCACTAGGATGTTCAGATGTCAAAGTTCAAGGATGTCACCCCAGCACTCCTTCAAGCCCCCTTCTCAACCAGAGAGCCAGGGCCCAGGCACGTGAGGGTGATGGGAAGACCCGCCCCCCCCCCCCACCTCGGAGCCCTCAGACCCAGCCTGCGGGGTGCCACGGCAGCCACTTACGTAGATGAGCCCTGAGTAGTAACGCTCCTTGAGGTTGTGCAGCACCGAGGCTTCGTTGAGGCACGTGAGCTCTGCCATGTCCTCCACCTTGGAGAACTTGGGCGGGTTCATCTTCTGGATGTCATCCTTGTTCACCTTCACCTTCTTCCCATTCTCCACCAGCTCCACGATGGCCTCTTCGCCCACCTCCTCCTTGAGGCTGGCTGGCTCAAAGCCACTCTTGTCGGAAGGCACCCATACCAGCTTCTTGGCAGCCCAGTCGGCCTGGGCCAGCGGATTGTTGATGAAGTTTTTATCCACATAGAGATACTTATCGGCAGCTTGCTGTGCCATGGTGACTTATAGCCAGGACCTAAGCGGGGAGGAGAAGGACAACACATTACATACAACTACGTCAGCCACACAAGATCACTCATGCTCACACCTCTTCTCTTTGCAAACTGTATAGGATTAAGACACAGTAAAACTCTATATAACCAGGCTGCACAACTTTCTTGCTCCACACTTTTGGGATAAAGATGTGCATCACTGAAAAAACAAGTTGGGCCCAGGACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGCATATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACCTGGTGAAAACCCATCTCTACTAAAAATACAAAAATTAACCAGGCGTGGTGGTGCACACCTGTCATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCAGCTCACACCACTGCACTCCAGCCTGGGCAACAGAAAAACAAGCTGATAGCAGGGATTTTGTTAGCAACTAATGGTAAGGTGTATCGCCCTAGGGTCAATCCACAATCAAGAAAACTATTGTGCCAAATGAACATAACAAGAGTCTCAAAGACAGATGCAATTCAAGTCGCTATGCTACAGATACAAAGGTAGCAAAGTAGCCACACAGTTTGGGAGGATTTCCAACAAAAACAGGTTTCTAATCAGCCAAAAAACACAACTGACTACAACCCCACATAGTGGAAGTTTCCAGTTTAAAAAACTTGTTATTAGTTCATGAAGTCAACTAAGACAAGAGAAGAAAATAAAACATCAGTACATGTTGCCACCAGATTTTAATTCCATCTTGATAATACAGCCCAAAAAAAGCACAGAGAAAAGATGCCAGGTTCCAAGAAACATGGAGAATGCTAAGAGTGCTTCCCTTTGGGGACACTAAGGTCAAAAGTGACCCTCACAATTCATGAGCCAAGAGAACTTAAGTTCATGTGTGTTTGCTTTTTTCAAAACTCATTTGCAAAATGAAGATATAAAATAGGCTGGGGACACTGGCTCAGGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCAGGGCGTGGTGGCGCATGCCTGTAATCCTAGCTGCTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGGGGTTGTGGTGAGCCGAGATTGTGCCATGGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAGACATAAAATAACAATGCCTTATATATCTGTATGGTTTTATAGTTTATGAAATGCTTTCACACATATTTCGCTATCTCGAAAGGTCTTTGTAGTAACAACTCTGTAAACCAGGTAAGGTATATATTATTACCACCAATTTACAGATGAGGAAACAAGCTCCCTGGATGTAAGGGGCTTCTCCATAGTCATCCAGTCCTGTGGCCTTTCCACGACTAACACCATCGTTATTCCTGCTCAGAGGCGCAGGCTGGGATCACCTGAGGTGACTACCCTAGTGTAAAACTGACTCAGCTTGTGGCCACCAGAGGAGGCAGCCCAGAAGCTCACTGCCCAGCTCCCGCTGGGAAATCAAGGAAGATCAGGAAGGTTTTTTTTCCCTCTATGAGATCAAGCCCCCTCCCCTCAGGCCCCTGCAATCCAGGAAGTCCCCAGATCCAAACACGGAACACCATGGGCTTTTG
AACCTCTTCATGGCTTTTTTCCACTAGGTCAAAAACATTTTGAGGACTGTTTTATTCAGCCCAAAGTTCAAGGTGGCTAGGGCAACATAAAGAAATAAAGAGCTATTTTAGGAATAATAACAAGCAGATATTTCTTTCCCACTGGGGACAAAACCAGAAGGAAATATCTTTGAGTTGAACAGAGGAATTTGGGGTTGATATTGGACAGGACTTTGTGACCCCAGAGCCCGTTGCCTCTGGGATGCATAAATGCTCATCTCCCTGTCTCCTAACTTGGTGATGGACTGCGTTTCTGCATTTTCTTTCTTGCCAGAAGAAAGAAAATGACGCCCCTGATCTGCTGCATGTGCTGGCCCTTTGCACATGCTGCTCTCTGGACTCTCAATACACTTCCCCTTGGTCAAGCCTGGCAAGGGACCAGCACTAAAGTGCTGGACAGAGTCCCAGAGCAAGTCTTACTCTTGGTGGCTCACCTCTGCTCAAAGCACACTCCCTAGGGAAGTAACCCACACCAACAAGCATCCGTAAAGAACAAGATGGGCTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCCAAGCAGAAGAATCACTTGTGCTCAGGAGTTCGAGACCAGCCCTAGGCAACATAATGAGACCCTGTCTCTAATAAAAATATTAAAAATTAGCCAGGCGTGGTGGCACAGGCCTGTAGTCCCAGCCACCAGAGAGGCTAAGGTGGGAGGATCGCTTGAGCCTAAGAGTTTGAGGCTGCAGTGAGCTGTGATCATGCCACTGCACTCCAGTCTGGGCAACAGAGCTACTTTGGGAGGCTGAGGTGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGACTGGCCAATTAAAAAAGACCCTGTCTCAAAAAAAAAAAAAAAAAACAATAGTAAGATGGCAGAGATACCAAAAATGGGCTTGGGGCAAATGGTGAAGGGAGAGGAGATCCAGTGATGCAAGAGGAACAAAGCAGGAAACCAGGAACTGGCACTCCCTACTTTAGAAGGAATCTACTACATTTTTAAAGTGCAAAAAGCTTATTGGAAAGAAATCAAAAGAGATAAAGATATTTTTAAAAATATCTTTTAAAATATTTCATTATTTTAATAATATAATAAATAATAAATAAATAAAATATTTAAAATATTTTATTTTAAGATATTTTTTAAAATATTTTAAATAATTAAGATATTTTATTTAAAAAAATTTTTAAAGATATTTAAAAAATAAAATGTTAAAAAAGAAGATTTTTTAAAGATATTATTAAAAATAATTAAAATTCAAAAAAACAGGCCAGGTGCGGTGGCTCGCGCCTGTAATGCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGCATTCAAGACCAGCCTCGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCAGGCATTATGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTCAGGAAGGAAAATCGCTTGAACCCAGGAGACAGAGGTTACAGTGAGCCAAGATCACACCATTGCACTCCAGCGGGGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAATTAAATTAAATTAAATTAAATTAAAAAAGAAGGAATCTACAACATTGACCTGAACCTTCATATTTCCACCAAAACTTGAGAACGAAGGCCAGTGGGTGGCCATCCCTCAGACAGGGCCATATTCTTCTCCCTACGTATGTTCTAAAACAGGCTTCCTGTTTTGCTTTTGGCTGCAAAGGGAAAAGAATAATGCTATAAGAACATCCCACTAGGATGTTCAGATGTCAAAGTTCAAGGATGTCACCCCAGCACTCCTTCAAGCCCCCTTCTCAACCAGAGAGCCAGGGCCCAGGCACGTGAGGGTGATGGGAAGACCCGCCCCCCCCCCCCACCTCGGAGCCCTCAGACCCAGCCTGCGGGGTGCCACGGCAGCCACTTACGTAGATGAGCCCTGAGTAGTAACGCTCCTTGAGGTTGTGCAGCACCGAGGCTTCGTCGAGGCACGTGAGCTCTGCCATGTCCTCCACCTTGGAGAACTTGGGCGGGTTCATCTTCTGGATGTCATCCTTGTTCACCTTCACCTTCTTCCCATTCTCCACCAGCTCCACGATGGCCTCTTCGCCCACCTCCTCCTTGAGGCTGGCTGGCTCAAAGCCACTCTTGTCGGAAGGCACCCATACCAGCTTCTTGGCAGCCCAGTCGGCCTGGGCCAGCGGATTGTTGATGAAGTTTTTATCCACATAGAGATACTTATCGGCAGCTTGCTGTGCCATGGTGACTTATAGCCAGGACCTAAGCGGGGAGGAGAAGGACAACACATTACATACAACTACGTCAGCCACACAAGATCACTCATGCTCACACCTCTTCTCTTTGCAAACTGTATAGGATTAAGACACAGTAAAACTCTATATAACCAGGCTGCACAACTTTCTTGCTCCACACTTTTGGGATAAAGATGTGCATCACTGAAAAAACAAGTTGGGCCCAGGACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGCATATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACCTGGTGAAAACCCATCTCTACTAAAAATACAAAAATTAACCAGGCGTGGTGGTGCACACCTGTCATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCAGCTCACACCACTGCACTCCAGCCTGGGCAACAGAAAAACAAGCTGATAGCAGGGATTTTGTTAGCAACTAATGGTAAGGTGTATCGCCCTAGGGTCAATCCACAATCAAGAAAACTATTGTGCCAAATGAACATAACAAGAGTCTCAAAGACAGATGCAATTCAAGTCGCTATGCTACAGATACAAAGGTAGCAAAGTAGCCACACAGTTTGGGAGGATTTCCAACAAAAACAGGTTTCTAATCAGCCAAAAAACACAACTGACTACAACCCCACATAGTGGAAGTTTCCAGTTTAAAAAACTTGTTATTAGTTCATGAAGTCAACTAAGACAAGAGAAGAAAATAAAACATCAGTACATGTTGCCACCAGATTTTAATTCCATCTTGATAATACAGCCCAAAAAAAGCACAGAGAAAAGATGCCAGGTTCCAAGAAACATGGAGAATGCTAAGAGTGCTTCCCTTTGGGGACACTAAGGTCAAAAGTGACCCTCACAATTCATGAGCCAAGAGAACTTAAGTTCATGTGTGTTTGCTTTTTTCAAAACTCATTTGCAAAATGAAGATATAAAATAGGCTGGGGACACTGGCTCAGGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCAGGGCGTGGTGGCGCATGCCTGTAATCCTAGCTGCTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGGGGTTGTGGTGAGCCGAGATTGTGCCATGGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAGACATAAAATAACAATGCCTTATATATCTGTATGGTTTTATAGTTTATGAAATGCTTTCACACATATTTCGCTATCTCGAAAGGTCTTTGTAGTAACAACTCTGTAAACCAGGTAAGGTATATATTATTACCACCAATTTACAGATGAGGAAACAAGCTCCCTGGATGTAAGGGGCTTCTCCATAGTCATCCAGTCCTGTGGCCTTTCCACGACTAACACCATCGTTATTCCTGCTCAGAGGCGCAGGCTGGGATCACCTGAGGTGACTACCCTAGTGTAAAACTGACTCAGCTTGTGGCCACCAGAGGAGGCAGCCCAGAAGCTCACTGCCCAGCTCCCGCTGGGAAATCAAGGAAGATCAGGAAGGTTTTTTTTCCCTCTATGAGATCAAGCCCCCTCCCCTCAGGCCCCTGCAATCCAGGAAGTCCCCAGATCCAAACACGGAACACCATGGGCTTTTG
Task1_train_28761
This variant lies on Chromosome 22 and affects the gene MYH9 (myosin heavy chain 9). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; MYH9-related disorder
ACAGAGGAATTTGGGGTTGATATTGGACAGGACTTTGTGACCCCAGAGCCCGTTGCCTCTGGGATGCATAAATGCTCATCTCCCTGTCTCCTAACTTGGTGATGGACTGCGTTTCTGCATTTTCTTTCTTGCCAGAAGAAAGAAAATGACGCCCCTGATCTGCTGCATGTGCTGGCCCTTTGCACATGCTGCTCTCTGGACTCTCAATACACTTCCCCTTGGTCAAGCCTGGCAAGGGACCAGCACTAAAGTGCTGGACAGAGTCCCAGAGCAAGTCTTACTCTTGGTGGCTCACCTCTGCTCAAAGCACACTCCCTAGGGAAGTAACCCACACCAACAAGCATCCGTAAAGAACAAGATGGGCTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCCAAGCAGAAGAATCACTTGTGCTCAGGAGTTCGAGACCAGCCCTAGGCAACATAATGAGACCCTGTCTCTAATAAAAATATTAAAAATTAGCCAGGCGTGGTGGCACAGGCCTGTAGTCCCAGCCACCAGAGAGGCTAAGGTGGGAGGATCGCTTGAGCCTAAGAGTTTGAGGCTGCAGTGAGCTGTGATCATGCCACTGCACTCCAGTCTGGGCAACAGAGCTACTTTGGGAGGCTGAGGTGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGACTGGCCAATTAAAAAAGACCCTGTCTCAAAAAAAAAAAAAAAAAACAATAGTAAGATGGCAGAGATACCAAAAATGGGCTTGGGGCAAATGGTGAAGGGAGAGGAGATCCAGTGATGCAAGAGGAACAAAGCAGGAAACCAGGAACTGGCACTCCCTACTTTAGAAGGAATCTACTACATTTTTAAAGTGCAAAAAGCTTATTGGAAAGAAATCAAAAGAGATAAAGATATTTTTAAAAATATCTTTTAAAATATTTCATTATTTTAATAATATAATAAATAATAAATAAATAAAATATTTAAAATATTTTATTTTAAGATATTTTTTAAAATATTTTAAATAATTAAGATATTTTATTTAAAAAAATTTTTAAAGATATTTAAAAAATAAAATGTTAAAAAAGAAGATTTTTTAAAGATATTATTAAAAATAATTAAAATTCAAAAAAACAGGCCAGGTGCGGTGGCTCGCGCCTGTAATGCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGCATTCAAGACCAGCCTCGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCAGGCATTATGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTCAGGAAGGAAAATCGCTTGAACCCAGGAGACAGAGGTTACAGTGAGCCAAGATCACACCATTGCACTCCAGCGGGGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAATTAAATTAAATTAAATTAAATTAAAAAAGAAGGAATCTACAACATTGACCTGAACCTTCATATTTCCACCAAAACTTGAGAACGAAGGCCAGTGGGTGGCCATCCCTCAGACAGGGCCATATTCTTCTCCCTACGTATGTTCTAAAACAGGCTTCCTGTTTTGCTTTTGGCTGCAAAGGGAAAAGAATAATGCTATAAGAACATCCCACTAGGATGTTCAGATGTCAAAGTTCAAGGATGTCACCCCAGCACTCCTTCAAGCCCCCTTCTCAACCAGAGAGCCAGGGCCCAGGCACGTGAGGGTGATGGGAAGACCCGCCCCCCCCCCCCACCTCGGAGCCCTCAGACCCAGCCTGCGGGGTGCCACGGCAGCCACTTACGTAGATGAGCCCTGAGTAGTAACGCTCCTTGAGGTTGTGCAGCACCGAGGCTTCGTTGAGGCACGTGAGCTCTGCCATGTCCTCCACCTTGGAGAACTTGGGCGGGTTCATCTTCTGGATGTCATCCTTGTTCACCTTCACCTTCTTCCCATTCTCCACCAGCTCCACGATGGCCTCTTCGCCCACCTCCTCCTTGAGGCTGGCTGGCTCAAAGCCACTCTTGTCGGAAGGCACCCATACCAGCTTCTTGGCAGCCCAGTCGGCCTGGGCCAGCGGATTGTTGATGAAGTTTTTATCCACATAGAGATACTTATCGGCAGCTTGCTGTGCCATGGTGACTTATAGCCAGGACCTAAGCGGGGAGGAGAAGGACAACACATTACATACAACTACGTCAGCCACACAAGATCACTCATGCTCACACCTCTTCTCTTTGCAAACTGTATAGGATTAAGACACAGTAAAACTCTATATAACCAGGCTGCACAACTTTCTTGCTCCACACTTTTGGGATAAAGATGTGCATCACTGAAAAAACAAGTTGGGCCCAGGACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGCATATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACCTGGTGAAAACCCATCTCTACTAAAAATACAAAAATTAACCAGGCGTGGTGGTGCACACCTGTCATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCAGCTCACACCACTGCACTCCAGCCTGGGCAACAGAAAAACAAGCTGATAGCAGGGATTTTGTTAGCAACTAATGGTAAGGTGTATCGCCCTAGGGTCAATCCACAATCAAGAAAACTATTGTGCCAAATGAACATAACAAGAGTCTCAAAGACAGATGCAATTCAAGTCGCTATGCTACAGATACAAAGGTAGCAAAGTAGCCACACAGTTTGGGAGGATTTCCAACAAAAACAGGTTTCTAATCAGCCAAAAAACACAACTGACTACAACCCCACATAGTGGAAGTTTCCAGTTTAAAAAACTTGTTATTAGTTCATGAAGTCAACTAAGACAAGAGAAGAAAATAAAACATCAGTACATGTTGCCACCAGATTTTAATTCCATCTTGATAATACAGCCCAAAAAAAGCACAGAGAAAAGATGCCAGGTTCCAAGAAACATGGAGAATGCTAAGAGTGCTTCCCTTTGGGGACACTAAGGTCAAAAGTGACCCTCACAATTCATGAGCCAAGAGAACTTAAGTTCATGTGTGTTTGCTTTTTTCAAAACTCATTTGCAAAATGAAGATATAAAATAGGCTGGGGACACTGGCTCAGGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCAGGGCGTGGTGGCGCATGCCTGTAATCCTAGCTGCTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGGGGTTGTGGTGAGCCGAGATTGTGCCATGGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAGACATAAAATAACAATGCCTTATATATCTGTATGGTTTTATAGTTTATGAAATGCTTTCACACATATTTCGCTATCTCGAAAGGTCTTTGTAGTAACAACTCTGTAAACCAGGTAAGGTATATATTATTACCACCAATTTACAGATGAGGAAACAAGCTCCCTGGATGTAAGGGGCTTCTCCATAGTCATCCAGTCCTGTGGCCTTTCCACGACTAACACCATCGTTATTCCTGCTCAGAGGCGCAGGCTGGGATCACCTGAGGTGACTACCCTAGTGTAAAACTGACTCAGCTTGTGGCCACCAGAGGAGGCAGCCCAGAAGCTCACTGCCCAGCTCCCGCTGGGAAATCAAGGAAGATCAGGAAGGTTTTTTTTCCCTCTATGAGATCAAGCCCCCTCCCCTCAGGCCCCTGCAATCCAGGAAGTCCCCAGATCCAAACACGGAACACCATGGGCTTTTGTGCTTCCAGATTCCAAGAGGGACTTGGATCCCAAGGAGGCTGGGGGCATGGGAGGGAAAGAACAAAGGGAAAAATCTAGGCTGACCAGAACTTTTCATCTGGGCTCATTAGTGGTTTTCAGTCAAGGCCAAGGGGCTCCCCTGGACTCACTCCAGAAGGGGCGGTTTTCCAGGAAAAA
ACAGAGGAATTTGGGGTTGATATTGGACAGGACTTTGTGACCCCAGAGCCCGTTGCCTCTGGGATGCATAAATGCTCATCTCCCTGTCTCCTAACTTGGTGATGGACTGCGTTTCTGCATTTTCTTTCTTGCCAGAAGAAAGAAAATGACGCCCCTGATCTGCTGCATGTGCTGGCCCTTTGCACATGCTGCTCTCTGGACTCTCAATACACTTCCCCTTGGTCAAGCCTGGCAAGGGACCAGCACTAAAGTGCTGGACAGAGTCCCAGAGCAAGTCTTACTCTTGGTGGCTCACCTCTGCTCAAAGCACACTCCCTAGGGAAGTAACCCACACCAACAAGCATCCGTAAAGAACAAGATGGGCTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCCAAGCAGAAGAATCACTTGTGCTCAGGAGTTCGAGACCAGCCCTAGGCAACATAATGAGACCCTGTCTCTAATAAAAATATTAAAAATTAGCCAGGCGTGGTGGCACAGGCCTGTAGTCCCAGCCACCAGAGAGGCTAAGGTGGGAGGATCGCTTGAGCCTAAGAGTTTGAGGCTGCAGTGAGCTGTGATCATGCCACTGCACTCCAGTCTGGGCAACAGAGCTACTTTGGGAGGCTGAGGTGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGACTGGCCAATTAAAAAAGACCCTGTCTCAAAAAAAAAAAAAAAAAACAATAGTAAGATGGCAGAGATACCAAAAATGGGCTTGGGGCAAATGGTGAAGGGAGAGGAGATCCAGTGATGCAAGAGGAACAAAGCAGGAAACCAGGAACTGGCACTCCCTACTTTAGAAGGAATCTACTACATTTTTAAAGTGCAAAAAGCTTATTGGAAAGAAATCAAAAGAGATAAAGATATTTTTAAAAATATCTTTTAAAATATTTCATTATTTTAATAATATAATAAATAATAAATAAATAAAATATTTAAAATATTTTATTTTAAGATATTTTTTAAAATATTTTAAATAATTAAGATATTTTATTTAAAAAAATTTTTAAAGATATTTAAAAAATAAAATGTTAAAAAAGAAGATTTTTTAAAGATATTATTAAAAATAATTAAAATTCAAAAAAACAGGCCAGGTGCGGTGGCTCGCGCCTGTAATGCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGCATTCAAGACCAGCCTCGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCAGGCATTATGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTCAGGAAGGAAAATCGCTTGAACCCAGGAGACAGAGGTTACAGTGAGCCAAGATCACACCATTGCACTCCAGCGGGGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAATTAAATTAAATTAAATTAAATTAAAAAAGAAGGAATCTACAACATTGACCTGAACCTTCATATTTCCACCAAAACTTGAGAACGAAGGCCAGTGGGTGGCCATCCCTCAGACAGGGCCATATTCTTCTCCCTACGTATGTTCTAAAACAGGCTTCCTGTTTTGCTTTTGGCTGCAAAGGGAAAAGAATAATGCTATAAGAACATCCCACTAGGATGTTCAGATGTCAAAGTTCAAGGATGTCACCCCAGCACTCCTTCAAGCCCCCTTCTCAACCAGAGAGCCAGGGCCCAGGCACGTGAGGGTGATGGGAAGACCCGCCCCCCCCCCCCACCTCGGAGCCCTCAGACCCAGCCTGCGGGGTGCCACGGCAGCCACTTACGTAGATGAGCCCTGAGTAGTAACGCTCCTTGAGGTTGTGCAGCACCGAGGCTTCGTTGAGGCACGTGAGCTCTGCCATGTCCTCCACCTTGGAGAACTTGGGCGGGTTCATCTTCTGGATGTCATCCTTGTTCACCTTCACCTTCTTCCCATTCTCCACCAGCTCCACGATGGCCTCTTCGCCCACCTCCTCCTTGAGGCTGGCTGGCTCAAAGCCACTCTTGTCGGAAGGCACGCATACCAGCTTCTTGGCAGCCCAGTCGGCCTGGGCCAGCGGATTGTTGATGAAGTTTTTATCCACATAGAGATACTTATCGGCAGCTTGCTGTGCCATGGTGACTTATAGCCAGGACCTAAGCGGGGAGGAGAAGGACAACACATTACATACAACTACGTCAGCCACACAAGATCACTCATGCTCACACCTCTTCTCTTTGCAAACTGTATAGGATTAAGACACAGTAAAACTCTATATAACCAGGCTGCACAACTTTCTTGCTCCACACTTTTGGGATAAAGATGTGCATCACTGAAAAAACAAGTTGGGCCCAGGACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGCATATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACCTGGTGAAAACCCATCTCTACTAAAAATACAAAAATTAACCAGGCGTGGTGGTGCACACCTGTCATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCAGCTCACACCACTGCACTCCAGCCTGGGCAACAGAAAAACAAGCTGATAGCAGGGATTTTGTTAGCAACTAATGGTAAGGTGTATCGCCCTAGGGTCAATCCACAATCAAGAAAACTATTGTGCCAAATGAACATAACAAGAGTCTCAAAGACAGATGCAATTCAAGTCGCTATGCTACAGATACAAAGGTAGCAAAGTAGCCACACAGTTTGGGAGGATTTCCAACAAAAACAGGTTTCTAATCAGCCAAAAAACACAACTGACTACAACCCCACATAGTGGAAGTTTCCAGTTTAAAAAACTTGTTATTAGTTCATGAAGTCAACTAAGACAAGAGAAGAAAATAAAACATCAGTACATGTTGCCACCAGATTTTAATTCCATCTTGATAATACAGCCCAAAAAAAGCACAGAGAAAAGATGCCAGGTTCCAAGAAACATGGAGAATGCTAAGAGTGCTTCCCTTTGGGGACACTAAGGTCAAAAGTGACCCTCACAATTCATGAGCCAAGAGAACTTAAGTTCATGTGTGTTTGCTTTTTTCAAAACTCATTTGCAAAATGAAGATATAAAATAGGCTGGGGACACTGGCTCAGGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCAGGGCGTGGTGGCGCATGCCTGTAATCCTAGCTGCTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGGGGTTGTGGTGAGCCGAGATTGTGCCATGGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAGACATAAAATAACAATGCCTTATATATCTGTATGGTTTTATAGTTTATGAAATGCTTTCACACATATTTCGCTATCTCGAAAGGTCTTTGTAGTAACAACTCTGTAAACCAGGTAAGGTATATATTATTACCACCAATTTACAGATGAGGAAACAAGCTCCCTGGATGTAAGGGGCTTCTCCATAGTCATCCAGTCCTGTGGCCTTTCCACGACTAACACCATCGTTATTCCTGCTCAGAGGCGCAGGCTGGGATCACCTGAGGTGACTACCCTAGTGTAAAACTGACTCAGCTTGTGGCCACCAGAGGAGGCAGCCCAGAAGCTCACTGCCCAGCTCCCGCTGGGAAATCAAGGAAGATCAGGAAGGTTTTTTTTCCCTCTATGAGATCAAGCCCCCTCCCCTCAGGCCCCTGCAATCCAGGAAGTCCCCAGATCCAAACACGGAACACCATGGGCTTTTGTGCTTCCAGATTCCAAGAGGGACTTGGATCCCAAGGAGGCTGGGGGCATGGGAGGGAAAGAACAAAGGGAAAAATCTAGGCTGACCAGAACTTTTCATCTGGGCTCATTAGTGGTTTTCAGTCAAGGCCAAGGGGCTCCCCTGGACTCACTCCAGAAGGGGCGGTTTTCCAGGAAAAA
Task1_train_28762
Here is a genetic alteration in MYH9 (myosin heavy chain 9) on Chromosome 22. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
AGAGGAATTTGGGGTTGATATTGGACAGGACTTTGTGACCCCAGAGCCCGTTGCCTCTGGGATGCATAAATGCTCATCTCCCTGTCTCCTAACTTGGTGATGGACTGCGTTTCTGCATTTTCTTTCTTGCCAGAAGAAAGAAAATGACGCCCCTGATCTGCTGCATGTGCTGGCCCTTTGCACATGCTGCTCTCTGGACTCTCAATACACTTCCCCTTGGTCAAGCCTGGCAAGGGACCAGCACTAAAGTGCTGGACAGAGTCCCAGAGCAAGTCTTACTCTTGGTGGCTCACCTCTGCTCAAAGCACACTCCCTAGGGAAGTAACCCACACCAACAAGCATCCGTAAAGAACAAGATGGGCTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCCAAGCAGAAGAATCACTTGTGCTCAGGAGTTCGAGACCAGCCCTAGGCAACATAATGAGACCCTGTCTCTAATAAAAATATTAAAAATTAGCCAGGCGTGGTGGCACAGGCCTGTAGTCCCAGCCACCAGAGAGGCTAAGGTGGGAGGATCGCTTGAGCCTAAGAGTTTGAGGCTGCAGTGAGCTGTGATCATGCCACTGCACTCCAGTCTGGGCAACAGAGCTACTTTGGGAGGCTGAGGTGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGACTGGCCAATTAAAAAAGACCCTGTCTCAAAAAAAAAAAAAAAAAACAATAGTAAGATGGCAGAGATACCAAAAATGGGCTTGGGGCAAATGGTGAAGGGAGAGGAGATCCAGTGATGCAAGAGGAACAAAGCAGGAAACCAGGAACTGGCACTCCCTACTTTAGAAGGAATCTACTACATTTTTAAAGTGCAAAAAGCTTATTGGAAAGAAATCAAAAGAGATAAAGATATTTTTAAAAATATCTTTTAAAATATTTCATTATTTTAATAATATAATAAATAATAAATAAATAAAATATTTAAAATATTTTATTTTAAGATATTTTTTAAAATATTTTAAATAATTAAGATATTTTATTTAAAAAAATTTTTAAAGATATTTAAAAAATAAAATGTTAAAAAAGAAGATTTTTTAAAGATATTATTAAAAATAATTAAAATTCAAAAAAACAGGCCAGGTGCGGTGGCTCGCGCCTGTAATGCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGCATTCAAGACCAGCCTCGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCAGGCATTATGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTCAGGAAGGAAAATCGCTTGAACCCAGGAGACAGAGGTTACAGTGAGCCAAGATCACACCATTGCACTCCAGCGGGGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAATTAAATTAAATTAAATTAAATTAAAAAAGAAGGAATCTACAACATTGACCTGAACCTTCATATTTCCACCAAAACTTGAGAACGAAGGCCAGTGGGTGGCCATCCCTCAGACAGGGCCATATTCTTCTCCCTACGTATGTTCTAAAACAGGCTTCCTGTTTTGCTTTTGGCTGCAAAGGGAAAAGAATAATGCTATAAGAACATCCCACTAGGATGTTCAGATGTCAAAGTTCAAGGATGTCACCCCAGCACTCCTTCAAGCCCCCTTCTCAACCAGAGAGCCAGGGCCCAGGCACGTGAGGGTGATGGGAAGACCCGCCCCCCCCCCCCACCTCGGAGCCCTCAGACCCAGCCTGCGGGGTGCCACGGCAGCCACTTACGTAGATGAGCCCTGAGTAGTAACGCTCCTTGAGGTTGTGCAGCACCGAGGCTTCGTTGAGGCACGTGAGCTCTGCCATGTCCTCCACCTTGGAGAACTTGGGCGGGTTCATCTTCTGGATGTCATCCTTGTTCACCTTCACCTTCTTCCCATTCTCCACCAGCTCCACGATGGCCTCTTCGCCCACCTCCTCCTTGAGGCTGGCTGGCTCAAAGCCACTCTTGTCGGAAGGCACCCATACCAGCTTCTTGGCAGCCCAGTCGGCCTGGGCCAGCGGATTGTTGATGAAGTTTTTATCCACATAGAGATACTTATCGGCAGCTTGCTGTGCCATGGTGACTTATAGCCAGGACCTAAGCGGGGAGGAGAAGGACAACACATTACATACAACTACGTCAGCCACACAAGATCACTCATGCTCACACCTCTTCTCTTTGCAAACTGTATAGGATTAAGACACAGTAAAACTCTATATAACCAGGCTGCACAACTTTCTTGCTCCACACTTTTGGGATAAAGATGTGCATCACTGAAAAAACAAGTTGGGCCCAGGACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGCATATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACCTGGTGAAAACCCATCTCTACTAAAAATACAAAAATTAACCAGGCGTGGTGGTGCACACCTGTCATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCAGCTCACACCACTGCACTCCAGCCTGGGCAACAGAAAAACAAGCTGATAGCAGGGATTTTGTTAGCAACTAATGGTAAGGTGTATCGCCCTAGGGTCAATCCACAATCAAGAAAACTATTGTGCCAAATGAACATAACAAGAGTCTCAAAGACAGATGCAATTCAAGTCGCTATGCTACAGATACAAAGGTAGCAAAGTAGCCACACAGTTTGGGAGGATTTCCAACAAAAACAGGTTTCTAATCAGCCAAAAAACACAACTGACTACAACCCCACATAGTGGAAGTTTCCAGTTTAAAAAACTTGTTATTAGTTCATGAAGTCAACTAAGACAAGAGAAGAAAATAAAACATCAGTACATGTTGCCACCAGATTTTAATTCCATCTTGATAATACAGCCCAAAAAAAGCACAGAGAAAAGATGCCAGGTTCCAAGAAACATGGAGAATGCTAAGAGTGCTTCCCTTTGGGGACACTAAGGTCAAAAGTGACCCTCACAATTCATGAGCCAAGAGAACTTAAGTTCATGTGTGTTTGCTTTTTTCAAAACTCATTTGCAAAATGAAGATATAAAATAGGCTGGGGACACTGGCTCAGGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCAGGGCGTGGTGGCGCATGCCTGTAATCCTAGCTGCTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGGGGTTGTGGTGAGCCGAGATTGTGCCATGGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAGACATAAAATAACAATGCCTTATATATCTGTATGGTTTTATAGTTTATGAAATGCTTTCACACATATTTCGCTATCTCGAAAGGTCTTTGTAGTAACAACTCTGTAAACCAGGTAAGGTATATATTATTACCACCAATTTACAGATGAGGAAACAAGCTCCCTGGATGTAAGGGGCTTCTCCATAGTCATCCAGTCCTGTGGCCTTTCCACGACTAACACCATCGTTATTCCTGCTCAGAGGCGCAGGCTGGGATCACCTGAGGTGACTACCCTAGTGTAAAACTGACTCAGCTTGTGGCCACCAGAGGAGGCAGCCCAGAAGCTCACTGCCCAGCTCCCGCTGGGAAATCAAGGAAGATCAGGAAGGTTTTTTTTCCCTCTATGAGATCAAGCCCCCTCCCCTCAGGCCCCTGCAATCCAGGAAGTCCCCAGATCCAAACACGGAACACCATGGGCTTTTGTGCTTCCAGATTCCAAGAGGGACTTGGATCCCAAGGAGGCTGGGGGCATGGGAGGGAAAGAACAAAGGGAAAAATCTAGGCTGACCAGAACTTTTCATCTGGGCTCATTAGTGGTTTTCAGTCAAGGCCAAGGGGCTCCCCTGGACTCACTCCAGAAGGGGCGGTTTTCCAGGAAAAAAC
AGAGGAATTTGGGGTTGATATTGGACAGGACTTTGTGACCCCAGAGCCCGTTGCCTCTGGGATGCATAAATGCTCATCTCCCTGTCTCCTAACTTGGTGATGGACTGCGTTTCTGCATTTTCTTTCTTGCCAGAAGAAAGAAAATGACGCCCCTGATCTGCTGCATGTGCTGGCCCTTTGCACATGCTGCTCTCTGGACTCTCAATACACTTCCCCTTGGTCAAGCCTGGCAAGGGACCAGCACTAAAGTGCTGGACAGAGTCCCAGAGCAAGTCTTACTCTTGGTGGCTCACCTCTGCTCAAAGCACACTCCCTAGGGAAGTAACCCACACCAACAAGCATCCGTAAAGAACAAGATGGGCTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCCAAGCAGAAGAATCACTTGTGCTCAGGAGTTCGAGACCAGCCCTAGGCAACATAATGAGACCCTGTCTCTAATAAAAATATTAAAAATTAGCCAGGCGTGGTGGCACAGGCCTGTAGTCCCAGCCACCAGAGAGGCTAAGGTGGGAGGATCGCTTGAGCCTAAGAGTTTGAGGCTGCAGTGAGCTGTGATCATGCCACTGCACTCCAGTCTGGGCAACAGAGCTACTTTGGGAGGCTGAGGTGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGACTGGCCAATTAAAAAAGACCCTGTCTCAAAAAAAAAAAAAAAAAACAATAGTAAGATGGCAGAGATACCAAAAATGGGCTTGGGGCAAATGGTGAAGGGAGAGGAGATCCAGTGATGCAAGAGGAACAAAGCAGGAAACCAGGAACTGGCACTCCCTACTTTAGAAGGAATCTACTACATTTTTAAAGTGCAAAAAGCTTATTGGAAAGAAATCAAAAGAGATAAAGATATTTTTAAAAATATCTTTTAAAATATTTCATTATTTTAATAATATAATAAATAATAAATAAATAAAATATTTAAAATATTTTATTTTAAGATATTTTTTAAAATATTTTAAATAATTAAGATATTTTATTTAAAAAAATTTTTAAAGATATTTAAAAAATAAAATGTTAAAAAAGAAGATTTTTTAAAGATATTATTAAAAATAATTAAAATTCAAAAAAACAGGCCAGGTGCGGTGGCTCGCGCCTGTAATGCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGCATTCAAGACCAGCCTCGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCAGGCATTATGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTCAGGAAGGAAAATCGCTTGAACCCAGGAGACAGAGGTTACAGTGAGCCAAGATCACACCATTGCACTCCAGCGGGGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAATTAAATTAAATTAAATTAAATTAAAAAAGAAGGAATCTACAACATTGACCTGAACCTTCATATTTCCACCAAAACTTGAGAACGAAGGCCAGTGGGTGGCCATCCCTCAGACAGGGCCATATTCTTCTCCCTACGTATGTTCTAAAACAGGCTTCCTGTTTTGCTTTTGGCTGCAAAGGGAAAAGAATAATGCTATAAGAACATCCCACTAGGATGTTCAGATGTCAAAGTTCAAGGATGTCACCCCAGCACTCCTTCAAGCCCCCTTCTCAACCAGAGAGCCAGGGCCCAGGCACGTGAGGGTGATGGGAAGACCCGCCCCCCCCCCCCACCTCGGAGCCCTCAGACCCAGCCTGCGGGGTGCCACGGCAGCCACTTACGTAGATGAGCCCTGAGTAGTAACGCTCCTTGAGGTTGTGCAGCACCGAGGCTTCGTTGAGGCACGTGAGCTCTGCCATGTCCTCCACCTTGGAGAACTTGGGCGGGTTCATCTTCTGGATGTCATCCTTGTTCACCTTCACCTTCTTCCCATTCTCCACCAGCTCCACGATGGCCTCTTCGCCCACCTCCTCCTTGAGGCTGGCTGGCTCAAAGCCACTCTTGTCGGAAGGCACCCGTACCAGCTTCTTGGCAGCCCAGTCGGCCTGGGCCAGCGGATTGTTGATGAAGTTTTTATCCACATAGAGATACTTATCGGCAGCTTGCTGTGCCATGGTGACTTATAGCCAGGACCTAAGCGGGGAGGAGAAGGACAACACATTACATACAACTACGTCAGCCACACAAGATCACTCATGCTCACACCTCTTCTCTTTGCAAACTGTATAGGATTAAGACACAGTAAAACTCTATATAACCAGGCTGCACAACTTTCTTGCTCCACACTTTTGGGATAAAGATGTGCATCACTGAAAAAACAAGTTGGGCCCAGGACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGCATATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACCTGGTGAAAACCCATCTCTACTAAAAATACAAAAATTAACCAGGCGTGGTGGTGCACACCTGTCATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCAGCTCACACCACTGCACTCCAGCCTGGGCAACAGAAAAACAAGCTGATAGCAGGGATTTTGTTAGCAACTAATGGTAAGGTGTATCGCCCTAGGGTCAATCCACAATCAAGAAAACTATTGTGCCAAATGAACATAACAAGAGTCTCAAAGACAGATGCAATTCAAGTCGCTATGCTACAGATACAAAGGTAGCAAAGTAGCCACACAGTTTGGGAGGATTTCCAACAAAAACAGGTTTCTAATCAGCCAAAAAACACAACTGACTACAACCCCACATAGTGGAAGTTTCCAGTTTAAAAAACTTGTTATTAGTTCATGAAGTCAACTAAGACAAGAGAAGAAAATAAAACATCAGTACATGTTGCCACCAGATTTTAATTCCATCTTGATAATACAGCCCAAAAAAAGCACAGAGAAAAGATGCCAGGTTCCAAGAAACATGGAGAATGCTAAGAGTGCTTCCCTTTGGGGACACTAAGGTCAAAAGTGACCCTCACAATTCATGAGCCAAGAGAACTTAAGTTCATGTGTGTTTGCTTTTTTCAAAACTCATTTGCAAAATGAAGATATAAAATAGGCTGGGGACACTGGCTCAGGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCAGGGCGTGGTGGCGCATGCCTGTAATCCTAGCTGCTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGGGGTTGTGGTGAGCCGAGATTGTGCCATGGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAGACATAAAATAACAATGCCTTATATATCTGTATGGTTTTATAGTTTATGAAATGCTTTCACACATATTTCGCTATCTCGAAAGGTCTTTGTAGTAACAACTCTGTAAACCAGGTAAGGTATATATTATTACCACCAATTTACAGATGAGGAAACAAGCTCCCTGGATGTAAGGGGCTTCTCCATAGTCATCCAGTCCTGTGGCCTTTCCACGACTAACACCATCGTTATTCCTGCTCAGAGGCGCAGGCTGGGATCACCTGAGGTGACTACCCTAGTGTAAAACTGACTCAGCTTGTGGCCACCAGAGGAGGCAGCCCAGAAGCTCACTGCCCAGCTCCCGCTGGGAAATCAAGGAAGATCAGGAAGGTTTTTTTTCCCTCTATGAGATCAAGCCCCCTCCCCTCAGGCCCCTGCAATCCAGGAAGTCCCCAGATCCAAACACGGAACACCATGGGCTTTTGTGCTTCCAGATTCCAAGAGGGACTTGGATCCCAAGGAGGCTGGGGGCATGGGAGGGAAAGAACAAAGGGAAAAATCTAGGCTGACCAGAACTTTTCATCTGGGCTCATTAGTGGTTTTCAGTCAAGGCCAAGGGGCTCCCCTGGACTCACTCCAGAAGGGGCGGTTTTCCAGGAAAAAAC
Task1_train_28763
This is a variant in CACNG2 (calcium voltage-gated channel auxiliary subunit gamma 2), located on Chromosome 22. Is this mutation a likely cause of disease or not?
Pathogenic; Intellectual disability, autosomal dominant 10
CCCTCCTCCCGCGGTCTTCTGGCGAGGCCCGCGGTCTTTATACGGGGGTGGTCCGGCGGTTGGCTGTGTTGGAGTGGAGAGAGTCCTTGTTCTCCTTCTGGATACAGTTGTGAACCTGGAGGAAGCTGTTATCCCTGTCGGAGTTGTAGGTGGCGGTGGGCGTGGTGGCGGCCTTCAGGGGGTCCCTGCTGAGCGTGTACATGGAGATCTCCGTGGACGGCAGGGTGTTGAAGCCCTTGATGCCCACGGGGGAGGCGTCCCTGGAGTGTGAGGGCTCCGTGGAGCGCGAGCTGGAGCGGCTGCGGCGCTGGTAGCGGTAGCGGTAGCTGGGGATGCGGGTGATGGCAGAGGCCTGGAGGTAGTCCGTGGCGCGGGCCGTGGCCCGCAGCTGTTTGTGCCGGTCGATAAACATGTGCACCGCCAGCACCCCGACCATCTCGGCGATGATGAAGGACAGGGCCCCGAAGTAGAAGGACCAGCCGTATGAGTAACTATTCTTTTTGGAGTCGCTCTTGGAGGGGTCTCCGGCATTGGCAGATATGTACACTATGATGCCAATGATGTTACTCAGACCTGCGGGGCGCAGGGTGGCGGGGTGGGGGATCAGAGAGAAGGACGTTAGTTTCTCAGGAAGTCGGCCACAGGGCAGCCGTAAAGGACGGGGACAGCTGTGTGGGCCTTCCCCGGTCCCGCGCCTTCATGAACAGGTGGGGCGGTGTAGATGGACATCCGCAAGCTTCCCCTTAACATTTTATCTTTCCATTCAGAGAGAGCCACAAGGGAAGCGCTAATGGAAACAGACATGGGCAGGGCGGGAGAAGGGAGGCATTTCACAAGGCGCTGAGTAACTAATAATAGATATTGTTCATTGAGCCTTCTCTACCTGCTTTCACTGCTTGGTGCTTCTCAAGCAGGGCACAGATGAGGAAACAAGCACAGAGAGGTTAAGGAACTTGCTTAAGGCTGCACAGGGCTTCAAAGCTGGTGTAGCAGCGGGTGAAGGCGGGCTGATGGAGCCAGGCTGGCCTGCGTTCAAAGCCTTCGCAAGTTAACCTTGGTTTGAGTTTCCAGATCTGTAGAATGGGAGTAAGGTTAAGCCTTACTCTTTAGGGCCACGGAGAGGGTTAAATGGGTGAATACATGTGAGTACTCTTAGATGTTGGTGGTTCCTTTTTTTTTTTTTAAGATACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGCAGTCTCAAACTCCTGGGATCAAGCGATCCTCCCACCTTAGCCTCTCTAGTAGCTGGGATTATGTATGCGTCACCATGCCCAGCTGATTAAAATAAAAAAATTTCTGTAGAGACGCGGTCTTGAGGCCTCGCTGTGTTGCCCAGGCTGGTCTCGGACTCCTGAGCTCAAGTGATCCTCCTGTCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGCACCCGGCCTGATGTTGGTCATTCTTATTAAATGGCTCAGGCTACACCCAGGTTCTTTTTCTGGCATCTGAAGTGAGTGTGACTCATCTGTCATGTAACTGGGCTCAGACATCTGGATGTGGGTGCCTGCCTGCTCCCACCTGAGTAGAACAGTGAGGGGAGAGTCCACCCTTGGTTTCCAAGGTGAAGCTGAGTATCCCATAGGGGTTGGAACAGCGAGGCACTTGGGTGCCCTCTCTCCAGCCTCCTCATGGGTTTACTTGCACCGGGAAGGGAAAGGGTAAGTGGCAATTGGCCAAGTACCCTGAGAGGAAGCGGGCATTTGGGCCTTTTCTCAAGTGGTGGGAAGAAGATGGGGTGTGGGGATGCTCCTGGAGGATTTGGTACAGGCTCGGGAGTTGCTACAGGACAGGAGCCCCCCCACCACCTTCCTCCCCTGCAACACGACCTAGTGCAAGTCTTGGAGATTTCCTCTCCTCTCTCCCCATCTCTCTCTGCCAGGCCCTCGTGGCCCCTGAGCACCCACACCCCAGCCTTCTTCCCAGTGGCAGGACTGGATCAGTGGCTGTTACCTGCAGACACGAAGAAGATGCCGGCACTCAGGATGATGTTGTGTCGAGTTTTGTAGAACTCGCTGGCTGCGATGCAGAGGCCACCCATGAAAAGCAGAATCACACTCAGGATTGGGAAAATGCTGGAGGCCCTCACGGCCCCTGTGGAACACAGAGGGTCAGGGAGAAAGAGAACGGCATGGCTGTGAGACTGAGGCACACAGAGGCAGGTGGGAGAGCAGCCCCGAGGCGCTGGGGGTTTATGGACACAGCCTTAGAGGAGAGGTTGCTTTGCAATCCTAGGGAGGGAGAGACAGCGAGCAGGCCACTGCCCAGCTCACAGCCCTGCAGGAGCTCCCCACTGCCTCCAGGGCCAAACTCCAGCACACCGTCAGGCACACAGGGCCCTGTGTGACTTGGCCTCTGCCCACTTCCAGCTCCCACGGCTCCCAGTCCTCATGTTCTCTCTCGTCCCACCACATCAAACTTCCCACGACATGTCATTTCATGCTGCTGACTTTTGAAATACAGAGCTTCCTACTGGAATGTCTTTCCTATTCTTCACTCAGCAAACTCTTCTTCATCCTTCAAAACCCAGCTCGAAGTCCCCTCTTCTGTAAAGCCTTCCCTGACTTCCTTAGGCAAAGTTATGAGCTCCCTCGTCTGCACTTTGGGGCCCTTGGGCACGCTGAGAGGCAGTGTGGTATAGTGGTTAGGTGGAACCACGTGGGTTGGATTTGAGTCTGGCTGCAGCATTTATTAGCTGTGCAATAGAAAAAGTATCTCACCTCTGTGTGCCTCAGTTTCCTCATCTGTAAAGCAGGGATGGTAATAATGCCAAGCTCCTAAGATTGTTGTGAGGATTAAATGAGTTGATTCAGGCAATGCACTTAGATAAGTTTCTGGTGTCTATAATAAACATTCAATGCATGATATTATAATAAATATTTGTGTATACATATGCTTCCACCATGAACCATGGGTCGTGAGACAAGGACTGTGGCTTTACAAAGAAAAAGTTTCTTGTCTTTATCCTCTCTGTTCAACGACACAGTAGTCTGCCAATAGAAGCTCATTAAGTGAATAAATGTGGGGTCGTGGTCCAGAAGGAAGGAACAGGCACATTGCAAAGAAAACAAAGTAAGAAGAGAAACCCCTCTAGATAAGGACTGACAAACAGGACCGGAGAAGAAAAGAATATGGTAATGAAAAGGGAGAAACAGAAGGTGAGGGCCAGGGCTCCTACAGTTGGGGGTGGATGGGGGAAAAGGGGGACAGGTGGCTAAGGGCAGAGGTCGGGGCTACATGTGTTTGTGGGGGGAGCAGCACCTGAATGAGGACCCAGAGGTGTTGGGGAGCCCTTCACAAAGTGTCTTTGCGAAGTAAAACATTTTTTTTTTAATCCAAATTCAAATAGGCAGTGAGTGACCTCAGGACCCAGCTCCGTGTCCTGGGAGCCATGGGCTAGGCAGGAGGCAGAGCTGGCTTGAGGCAGGGGTGAGGGAAAATATGTCTTCTTTATTATTATTATTTTTTGAGACGGAGTCTTCCCCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGTGTACCACCATGCTTGGCTAATTTTTGTACTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCTTGACCTCATGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCCAAAGATGTCTTCTTTAAATGGTGCTTAAGTGGTTTCTAAGGAAGTTGAGTCCTGATAATTACAGGACCCTTTGGCCAAGCCCAGGGATTGGTCAGGGAGGTTGGTTTTGGAGGGGAATGTGCCAGGAGCGGAGCTTCCTCTTATCCCCATCCCCGTCCCCACCCTTTTGGGTGGGAGTGTGTTCAAGAAGGATCTGTGAGAAGAGAATTTCTCTATATAGAACTGTAGGGATTTTTCTTTTTCTTTTTTAAAATTTATTTTT
CCCTCCTCCCGCGGTCTTCTGGCGAGGCCCGCGGTCTTTATACGGGGGTGGTCCGGCGGTTGGCTGTGTTGGAGTGGAGAGAGTCCTTGTTCTCCTTCTGGATACAGTTGTGAACCTGGAGGAAGCTGTTATCCCTGTCGGAGTTGTAGGTGGCGGTGGGCGTGGTGGCGGCCTTCAGGGGGTCCCTGCTGAGCGTGTACATGGAGATCTCCGTGGACGGCAGGGTGTTGAAGCCCTTGATGCCCACGGGGGAGGCGTCCCTGGAGTGTGAGGGCTCCGTGGAGCGCGAGCTGGAGCGGCTGCGGCGCTGGTAGCGGTAGCGGTAGCTGGGGATGCGGGTGATGGCAGAGGCCTGGAGGTAGTCCGTGGCGCGGGCCGTGGCCCGCAGCTGTTTGTGCCGGTCGATAAACATGTGCACCGCCAGCACCCCGACCATCTCGGCGATGATGAAGGACAGGGCCCCGAAGTAGAAGGACCAGCCGTATGAGTAACTATTCTTTTTGGAGTCGCTCTTGGAGGGGTCTCCGGCATTGGCAGATATGTACACTATGATGCCAATGATGTTACTCAGACCTGCGGGGCGCAGGGTGGCGGGGTGGGGGATCAGAGAGAAGGACGTTAGTTTCTCAGGAAGTCGGCCACAGGGCAGCCGTAAAGGACGGGGACAGCTGTGTGGGCCTTCCCCGGTCCCGCGCCTTCATGAACAGGTGGGGCGGTGTAGATGGACATCCGCAAGCTTCCCCTTAACATTTTATCTTTCCATTCAGAGAGAGCCACAAGGGAAGCGCTAATGGAAACAGACATGGGCAGGGCGGGAGAAGGGAGGCATTTCACAAGGCGCTGAGTAACTAATAATAGATATTGTTCATTGAGCCTTCTCTACCTGCTTTCACTGCTTGGTGCTTCTCAAGCAGGGCACAGATGAGGAAACAAGCACAGAGAGGTTAAGGAACTTGCTTAAGGCTGCACAGGGCTTCAAAGCTGGTGTAGCAGCGGGTGAAGGCGGGCTGATGGAGCCAGGCTGGCCTGCGTTCAAAGCCTTCGCAAGTTAACCTTGGTTTGAGTTTCCAGATCTGTAGAATGGGAGTAAGGTTAAGCCTTACTCTTTAGGGCCACGGAGAGGGTTAAATGGGTGAATACATGTGAGTACTCTTAGATGTTGGTGGTTCCTTTTTTTTTTTTTAAGATACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGCAGTCTCAAACTCCTGGGATCAAGCGATCCTCCCACCTTAGCCTCTCTAGTAGCTGGGATTATGTATGCGTCACCATGCCCAGCTGATTAAAATAAAAAAATTTCTGTAGAGACGCGGTCTTGAGGCCTCGCTGTGTTGCCCAGGCTGGTCTCGGACTCCTGAGCTCAAGTGATCCTCCTGTCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGCACCCGGCCTGATGTTGGTCATTCTTATTAAATGGCTCAGGCTACACCCAGGTTCTTTTTCTGGCATCTGAAGTGAGTGTGACTCATCTGTCATGTAACTGGGCTCAGACATCTGGATGTGGGTGCCTGCCTGCTCCCACCTGAGTAGAACAGTGAGGGGAGAGTCCACCCTTGGTTTCCAAGGTGAAGCTGAGTATCCCATAGGGGTTGGAACAGCGAGGCACTTGGGTGCCCTCTCTCCAGCCTCCTCATGGGTTTACTTGCACCGGGAAGGGAAAGGGTAAGTGGCAATTGGCCAAGTACCCTGAGAGGAAGCGGGCATTTGGGCCTTTTCTCAAGTGGTGGGAAGAAGATGGGGTGTGGGGATGCTCCTGGAGGATTTGGTACAGGCTCGGGAGTTGCTACAGGACAGGAGCCCCCCCACCACCTTCCTCCCCTGCAACACGACCTAGTGCAAGTCTTGGAGATTTCCTCTCCTCTCTCCCCATCTCTCTCTGCCAGGCCCTCGTGGCCCCTGAGCACCCACACCCCAGCCTTCTTCCCAGTGGCAGGACTGGATCAGTGGCTGTTACCTGCAGACAGGAAGAAGATGCCGGCACTCAGGATGATGTTGTGTCGAGTTTTGTAGAACTCGCTGGCTGCGATGCAGAGGCCACCCATGAAAAGCAGAATCACACTCAGGATTGGGAAAATGCTGGAGGCCCTCACGGCCCCTGTGGAACACAGAGGGTCAGGGAGAAAGAGAACGGCATGGCTGTGAGACTGAGGCACACAGAGGCAGGTGGGAGAGCAGCCCCGAGGCGCTGGGGGTTTATGGACACAGCCTTAGAGGAGAGGTTGCTTTGCAATCCTAGGGAGGGAGAGACAGCGAGCAGGCCACTGCCCAGCTCACAGCCCTGCAGGAGCTCCCCACTGCCTCCAGGGCCAAACTCCAGCACACCGTCAGGCACACAGGGCCCTGTGTGACTTGGCCTCTGCCCACTTCCAGCTCCCACGGCTCCCAGTCCTCATGTTCTCTCTCGTCCCACCACATCAAACTTCCCACGACATGTCATTTCATGCTGCTGACTTTTGAAATACAGAGCTTCCTACTGGAATGTCTTTCCTATTCTTCACTCAGCAAACTCTTCTTCATCCTTCAAAACCCAGCTCGAAGTCCCCTCTTCTGTAAAGCCTTCCCTGACTTCCTTAGGCAAAGTTATGAGCTCCCTCGTCTGCACTTTGGGGCCCTTGGGCACGCTGAGAGGCAGTGTGGTATAGTGGTTAGGTGGAACCACGTGGGTTGGATTTGAGTCTGGCTGCAGCATTTATTAGCTGTGCAATAGAAAAAGTATCTCACCTCTGTGTGCCTCAGTTTCCTCATCTGTAAAGCAGGGATGGTAATAATGCCAAGCTCCTAAGATTGTTGTGAGGATTAAATGAGTTGATTCAGGCAATGCACTTAGATAAGTTTCTGGTGTCTATAATAAACATTCAATGCATGATATTATAATAAATATTTGTGTATACATATGCTTCCACCATGAACCATGGGTCGTGAGACAAGGACTGTGGCTTTACAAAGAAAAAGTTTCTTGTCTTTATCCTCTCTGTTCAACGACACAGTAGTCTGCCAATAGAAGCTCATTAAGTGAATAAATGTGGGGTCGTGGTCCAGAAGGAAGGAACAGGCACATTGCAAAGAAAACAAAGTAAGAAGAGAAACCCCTCTAGATAAGGACTGACAAACAGGACCGGAGAAGAAAAGAATATGGTAATGAAAAGGGAGAAACAGAAGGTGAGGGCCAGGGCTCCTACAGTTGGGGGTGGATGGGGGAAAAGGGGGACAGGTGGCTAAGGGCAGAGGTCGGGGCTACATGTGTTTGTGGGGGGAGCAGCACCTGAATGAGGACCCAGAGGTGTTGGGGAGCCCTTCACAAAGTGTCTTTGCGAAGTAAAACATTTTTTTTTTAATCCAAATTCAAATAGGCAGTGAGTGACCTCAGGACCCAGCTCCGTGTCCTGGGAGCCATGGGCTAGGCAGGAGGCAGAGCTGGCTTGAGGCAGGGGTGAGGGAAAATATGTCTTCTTTATTATTATTATTTTTTGAGACGGAGTCTTCCCCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGTGTACCACCATGCTTGGCTAATTTTTGTACTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCTTGACCTCATGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGTGCCTGGCCAAAGATGTCTTCTTTAAATGGTGCTTAAGTGGTTTCTAAGGAAGTTGAGTCCTGATAATTACAGGACCCTTTGGCCAAGCCCAGGGATTGGTCAGGGAGGTTGGTTTTGGAGGGGAATGTGCCAGGAGCGGAGCTTCCTCTTATCCCCATCCCCGTCCCCACCCTTTTGGGTGGGAGTGTGTTCAAGAAGGATCTGTGAGAAGAGAATTTCTCTATATAGAACTGTAGGGATTTTTCTTTTTCTTTTTTAAAATTTATTTTT
Task1_train_28764
The gene CACNG2-DT, IFT27 (CACNG2 divergent transcript| intraflagellar transport 27), on Chromosome 22, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Bardet-Biedl syndrome 19
AATTCTGAGGGCCACAGAATCAGGTCTAAAGGCCACAAGGTGAGGTCCAAGTTACGACCATGACTGTGCCAGGCCTGGTGATCTCCCCAGCTAGCAACCCTGGCGAGGGGCAGGGCAACCAACACTCGGGCCCCTGCTGGCTCTGAGATGGATGTTCAGGGCCACACCTGTTCCTAGAGGGCAGATCATCACTTCATGCCCTTCCTAGTGGAGTCTCATGTGAGGGGTCTGATTGGTGCAGCCTGGGTCACATGGCTGCATCTTGGCCTCAAGGAGGATGGGACTTTAAAACTCCCAAACACAGGAAGCAGGTTCCTCAGTGCTGGACAGCTAAAATCATGATACATTAGGTTGGTGCAAAAGTAATTGCAGTTTTTGCCAGGAAAAGTGTACTGAAGACGCTGAAAATCACTTGCTTTTTGTAATGAGGTCTTCTGCTCTTTTAACTGGCAGGCACTTTGTGGCCTGGAGTCACCCTGGGGCTGCAGCAAGGTGAGGATGGGTGGTACCGATGGGAATTAGAGGCCATGAGTCCTAATCCTGGCTCCACCCTTCGCTAATCATGGGACCTTGGACAAGTCACTTGAGCTCCTCAACACTGGAATGGGAGCTGTGGGGCCAACTTCTGGTTCACAGGACTGGTTGTGAGAGCCACATGAAACAATGTTCCAACAACATCTGAACCCAGAATATTGCATGCAAACGTCGAGGGTCATGATCACCGCACACAAAGCACTTGTATTTCTTACTAGTTGAGATACACCTTTTCCCAGGGTTGGCTGGCTGATCTGCTTTCCTGTTATGTCTGAGCAGCTACTGCTATACTGAGAAGAGATCTCGGGTAAGAATGTAAACATCAGTTCCAAATGAGACTCTGCATATGGTGGAATAACAGCTCCCTGCACGTGAGGTCATGTGCAAGACCGCTGCCAGCAGAGGCCCACTCCAGACTTGGCGACGAGGCAAGTGGAAATACTCACCACGGATGTTTCAAAACATTCCAGGCCCTGGCCCAGCGCCCATGCCCGGGCCTCAGCTGAGTCCACTGCTCGTCTGCCGGCCAGGTCTGTCTTGTTCCCAACTAAAACACCTACTCAGAAGAAACAACCAAAATATGGCACTTCACTGTCACACTCTGGAAGGACAGCGGGCGAGATGAGAGCACTATTTTTGAGGGGTGTAAAGCATCCTCTGAGAGCTGCCTGACTCGAGGTGGTGAGCCCCCCCACAGGGAAAGCCGGGGGTCTCTCGTGATGGCCCCAAGGGCCACAGAGAGACAGGTGGGCTTCGCTTTTCATGCACAACTTCTGCTAGGTCTTTTTCTAGACCTCACGTGTATCTGTCTCCCTTGCCTCCTTAAAGGGCTGCAAACGCCTGAAGGCGAGGGCCAAATTTATGTGAGCCTTTGTAATAATTCTGAGCACACGGAGCAAACTGTAAACTGGTCATTAATAGTAATCTAAGGACTCGGCTCGGAGTCAGGGATTCAGAGGTAATTTAGTTCAGCTCCCAGCTGCATCAGCTGCAGCTAATTTTTGAGCCTGTCTCTGGAGATCACTTTCCCCGGTCTATAATGAGGAGAATTTGTTGATCTCACATAGGGACGAAAAATAAACTGATTTAAAGCATTCAGAAGTGACAACAGGCTTGAATGTTTACTTGTACCCCATATACAAGAGAAAATTAGGAACTCTTCCCTGGGGTTAGCTTTCTGGAATTAACAACTGATATTACAGCACCCTCCCGTTATTGAGTCTCCCCACAGCCCTGCCAGGTGCGTGTCCTCATTCCCGTTTCCTAGACTGGGAGAGGTGTGTGTGGTGACTCACCGAGGTTGGCATGGCTGCTAAGTGGCAGGGCCAGTGTACGCCTTAGGCCATCAAAGTCCAAGCCCAGGGCCCCTTCTCCACCCACAGCTACCTCTGCAATGCCCTTGTGCTCTTGAACCAAAGGACAGAGATGCCGCTGGGAAACATGGGTGTCTGCAGCCCGTACCTGGGAGAGAGATGCCTGGAGCCTGTGACCGAGCCTTCTCCAGCCACTTGCTGCAGTTGTTGAAGGATTCTTCATTGGTCACATCATAGACGAGACATAAGACATTGGGACTCTCCCACTGTGCAAGAGGGACAGGATGAGTATGGGTCAGTAACAGGAAAAGTGACTTCAAGGCTGGGAGACAATTTGGCCTTCCAAGGGAAAGGGTATGGGGAGCAGAGGGAAACAAGAAACGAAAACAGCCACACCCCCAGATGTCCAACAATTTCCCCAAAGGAATGAACGGAGGGCCACGTTCAGTGGCAGGAGGCAGGGCTGGGGCGGTGCCGCCAAGGACAAGAGCTCATGTCTGGGCCAGGCTCTGCTGGGCACTTCCGTGCCTCACTGTGAAACCTCCCAACTCGGTAGAGTGTCTGAATATTTCCACTTTGTAGCTGAAGAAACCAAATTCAGGGAGGGTAAGTGACTTGTCCAGGCCTGACAGGCTTTAAAAACAAAGACAACGATGACAGAGATGGGGGACGACTGAGTTCTTCTCTACCCAACAATCTGCTTTCACCTGCAGCTGGCCTCATTCATTCATTCTCCACTCATTCTTATCAAGAGCCCACCACCATGCAAGTTACATTTTTGTGCTTTGCAGCCCTGAAAGAAGATTCTTTCTTCATTAGCCAGCCTGGGAAGCTTGTTTGCTTGCATCTTCTTAATAAGGGCTGGCTTGTTAAAATGCAGAGGGCACTTTCTGCTTCTCTTGCCATCTCTGCATCAGCCTAATCCAAACCACACTGACAACTGGACAGGGCTCCATGACCCAATTAAGAGCCAAGGCTACACTCTCAGGGGCTGTCGCCTTCAGGGGCTGCTCAGAGTCCTGGGATGTCCTGCTGCCTGCCCCTGGATGTAGAATGGCCCTGTACAGGCTGTGGGTGCGCACCCTGGTGCTCGTGACTCTTGGCCATGCTCTGGTTTCTGGATCCCCCAACCTCGCACAATTAGGACCTGGTTTATTTCCGGGGTGCCAGTAACCTCCCAGGGTACAGAAGAGAATCCTTTTCCCTCCAGATTGGATTCCCTTTCAGATCCTTGGAAGGCGGGCCCAGATTCCACTCTGGAGGGCTCCTCCTCACCCTACAAGGCTGTGCTGGCTTCTGGCAGTGTCAGGGATGGGAGGACCGTGGACTAAACTGATGAACCCTTCACTCCACAGATTAACTCTTGAACTCCTGCTAGAACACATTGAGCTCTGTTACATGCACGCAGGAGACACTTCAGCGTGGTTTTAACTCAAGAAATCCTCCTTCTTCCAGGCTTCAGTGAGGGGGTCCTGGAGAGGCCTGGCATCAAGCTAAAGCCAGAGCGGGTGAACCAGGAGTCAGGGCCGGCTGGAGGGGAGGGTGTGAGCTGACGGGTGGCACATGGCCTGGATTTGCCCTAATACATCTTCCCTTCTGCTGGGCATGGCAGCCCCAGTGCCAGGCCATGCACACGGTAGGCAATTGGGGTGAACGTCGTGAACCGATGCATGAAGCCAACCCTGTATGAAATCACTATCATTAGATCTACTTCTCTTAGGCAACAAAAAAAAAGGGGCAGAAAACTGTTCCCATTAAAATGTGGCTGTTCTTGGAAAGGCAGGGGAGGGCTCTGGAGAACTCAAACCTTCTAATTAGCTCACTGGCCCAGATTAGTGAGACTGTTACCGTGGAAGGTACAGCAAGTGGATCCTGCGAGGCTGGTGGGACGGGGGTGGATGGGGCATGGTGAGGCCTGGGCAGCAGCAGGGGCATGTTCCAGAGCAAACCCCAGTGGAACGGCAGAAAGTGAGCCTCGTTATAGGCTGAGGCCTCTACAGCACTTCCCAGAGGGGGAGGAGGCAGTCTGTACTGTCTTGGGAGGTAGGGGACACCATCTGAAAGGACAGTGTTGCTCTAAAGAAGGGAGGCCTCACAGGGGGAGGGCTGCAAGGACCGAGCCGCAGGGCTCTTGGCCCATTGGATCCTGGGCACCCCAGAGCTGGGGCCCGGGCAGTCACACGCATCAGCCACTCCTTCTTGCCAAGTATCCATGAGTCCTGGGCTGGGAGGAATGCCCCTTAAAGAGT
AATTCTGAGGGCCACAGAATCAGGTCTAAAGGCCACAAGGTGAGGTCCAAGTTACGACCATGACTGTGCCAGGCCTGGTGATCTCCCCAGCTAGCAACCCTGGCGAGGGGCAGGGCAACCAACACTCGGGCCCCTGCTGGCTCTGAGATGGATGTTCAGGGCCACACCTGTTCCTAGAGGGCAGATCATCACTTCATGCCCTTCCTAGTGGAGTCTCATGTGAGGGGTCTGATTGGTGCAGCCTGGGTCACATGGCTGCATCTTGGCCTCAAGGAGGATGGGACTTTAAAACTCCCAAACACAGGAAGCAGGTTCCTCAGTGCTGGACAGCTAAAATCATGATACATTAGGTTGGTGCAAAAGTAATTGCAGTTTTTGCCAGGAAAAGTGTACTGAAGACGCTGAAAATCACTTGCTTTTTGTAATGAGGTCTTCTGCTCTTTTAACTGGCAGGCACTTTGTGGCCTGGAGTCACCCTGGGGCTGCAGCAAGGTGAGGATGGGTGGTACCGATGGGAATTAGAGGCCATGAGTCCTAATCCTGGCTCCACCCTTCGCTAATCATGGGACCTTGGACAAGTCACTTGAGCTCCTCAACACTGGAATGGGAGCTGTGGGGCCAACTTCTGGTTCACAGGACTGGTTGTGAGAGCCACATGAAACAATGTTCCAACAACATCTGAACCCAGAATATTGCATGCAAACGTCGAGGGTCATGATCACCGCACACAAAGCACTTGTATTTCTTACTAGTTGAGATACACCTTTTCCCAGGGTTGGCTGGCTGATCTGCTTTCCTGTTATGTCTGAGCAGCTACTGCTATACTGAGAAGAGATCTCGGGTAAGAATGTAAACATCAGTTCCAAATGAGACTCTGCATATGGTGGAATAACAGCTCCCTGCACGTGAGGTCATGTGCAAGACCGCTGCCAGCAGAGGCCCACTCCAGACTTGGCGACGAGGCAAGTGGAAATACTCACCACGGATGTTTCAAAACATTCCAGGCCCTGGCCCAGCGCCCATGCCCGGGCCTCAGCTGAGTCCACTGCTCGTCTGCCGGCCAGGTCTGTCTTGTTCCCAACTAAAACACCTACTCAGAAGAAACAACCAAAATATGGCACTTCACTGTCACACTCTGGAAGGACAGCGGGCGAGATGAGAGCACTATTTTTGAGGGGTGTAAAGCATCCTCTGAGAGCTGCCTGACTCGAGGTGGTGAGCCCCCCCACAGGGAAAGCCGGGGGTCTCTCGTGATGGCCCCAAGGGCCACAGAGAGACAGGTGGGCTTCGCTTTTCATGCACAACTTCTGCTAGGTCTTTTTCTAGACCTCACGTGTATCTGTCTCCCTTGCCTCCTTAAAGGGCTGCAAACGCCTGAAGGCGAGGGCCAAATTTATGTGAGCCTTTGTAATAATTCTGAGCACACGGAGCAAACTGTAAACTGGTCATTAATAGTAATCTAAGGACTCGGCTCGGAGTCAGGGATTCAGAGGTAATTTAGTTCAGCTCCCAGCTGCATCAGCTGCAGCTAATTTTTGAGCCTGTCTCTGGAGATCACTTTCCCCGGTCTATAATGAGGAGAATTTGTTGATCTCACATAGGGACGAAAAATAAACTGATTTAAAGCATTCAGAAGTGACAACAGGCTTGAATGTTTACTTGTACCCCATATACAAGAGAAAATTAGGAACTCTTCCCTGGGGTTAGCTTTCTGGAATTAACAACTGATATTACAGCACCCTCCCGTTATTGAGTCTCCCCACAGCCCTGCCAGGTGCGTGTCCTCATTCCCGTTTCCTAGACTGGGAGAGGTGTGTGTGGTGACTCACCGAGGTTGGCATGGCTGCTAAGTGGCAGGGCCAGTGTACGCCTTAGGCCATCAAAGTCCAAGCCCAGGGCCCCTTCTCCACCCACAGCTACCTCTGCAATGCCCTTGTGCTCTTGAACCAAAGGACAGAGATGCCGCTGGGAAACATGGGTGTCTGCAGCCCGTACCTGGGAGAGAGATGCCTGGAGCCTGTGACCGAGCCTTCTCCAGCCACTTGCTGTAGTTGTTGAAGGATTCTTCATTGGTCACATCATAGACGAGACATAAGACATTGGGACTCTCCCACTGTGCAAGAGGGACAGGATGAGTATGGGTCAGTAACAGGAAAAGTGACTTCAAGGCTGGGAGACAATTTGGCCTTCCAAGGGAAAGGGTATGGGGAGCAGAGGGAAACAAGAAACGAAAACAGCCACACCCCCAGATGTCCAACAATTTCCCCAAAGGAATGAACGGAGGGCCACGTTCAGTGGCAGGAGGCAGGGCTGGGGCGGTGCCGCCAAGGACAAGAGCTCATGTCTGGGCCAGGCTCTGCTGGGCACTTCCGTGCCTCACTGTGAAACCTCCCAACTCGGTAGAGTGTCTGAATATTTCCACTTTGTAGCTGAAGAAACCAAATTCAGGGAGGGTAAGTGACTTGTCCAGGCCTGACAGGCTTTAAAAACAAAGACAACGATGACAGAGATGGGGGACGACTGAGTTCTTCTCTACCCAACAATCTGCTTTCACCTGCAGCTGGCCTCATTCATTCATTCTCCACTCATTCTTATCAAGAGCCCACCACCATGCAAGTTACATTTTTGTGCTTTGCAGCCCTGAAAGAAGATTCTTTCTTCATTAGCCAGCCTGGGAAGCTTGTTTGCTTGCATCTTCTTAATAAGGGCTGGCTTGTTAAAATGCAGAGGGCACTTTCTGCTTCTCTTGCCATCTCTGCATCAGCCTAATCCAAACCACACTGACAACTGGACAGGGCTCCATGACCCAATTAAGAGCCAAGGCTACACTCTCAGGGGCTGTCGCCTTCAGGGGCTGCTCAGAGTCCTGGGATGTCCTGCTGCCTGCCCCTGGATGTAGAATGGCCCTGTACAGGCTGTGGGTGCGCACCCTGGTGCTCGTGACTCTTGGCCATGCTCTGGTTTCTGGATCCCCCAACCTCGCACAATTAGGACCTGGTTTATTTCCGGGGTGCCAGTAACCTCCCAGGGTACAGAAGAGAATCCTTTTCCCTCCAGATTGGATTCCCTTTCAGATCCTTGGAAGGCGGGCCCAGATTCCACTCTGGAGGGCTCCTCCTCACCCTACAAGGCTGTGCTGGCTTCTGGCAGTGTCAGGGATGGGAGGACCGTGGACTAAACTGATGAACCCTTCACTCCACAGATTAACTCTTGAACTCCTGCTAGAACACATTGAGCTCTGTTACATGCACGCAGGAGACACTTCAGCGTGGTTTTAACTCAAGAAATCCTCCTTCTTCCAGGCTTCAGTGAGGGGGTCCTGGAGAGGCCTGGCATCAAGCTAAAGCCAGAGCGGGTGAACCAGGAGTCAGGGCCGGCTGGAGGGGAGGGTGTGAGCTGACGGGTGGCACATGGCCTGGATTTGCCCTAATACATCTTCCCTTCTGCTGGGCATGGCAGCCCCAGTGCCAGGCCATGCACACGGTAGGCAATTGGGGTGAACGTCGTGAACCGATGCATGAAGCCAACCCTGTATGAAATCACTATCATTAGATCTACTTCTCTTAGGCAACAAAAAAAAAGGGGCAGAAAACTGTTCCCATTAAAATGTGGCTGTTCTTGGAAAGGCAGGGGAGGGCTCTGGAGAACTCAAACCTTCTAATTAGCTCACTGGCCCAGATTAGTGAGACTGTTACCGTGGAAGGTACAGCAAGTGGATCCTGCGAGGCTGGTGGGACGGGGGTGGATGGGGCATGGTGAGGCCTGGGCAGCAGCAGGGGCATGTTCCAGAGCAAACCCCAGTGGAACGGCAGAAAGTGAGCCTCGTTATAGGCTGAGGCCTCTACAGCACTTCCCAGAGGGGGAGGAGGCAGTCTGTACTGTCTTGGGAGGTAGGGGACACCATCTGAAAGGACAGTGTTGCTCTAAAGAAGGGAGGCCTCACAGGGGGAGGGCTGCAAGGACCGAGCCGCAGGGCTCTTGGCCCATTGGATCCTGGGCACCCCAGAGCTGGGGCCCGGGCAGTCACACGCATCAGCCACTCCTTCTTGCCAAGTATCCATGAGTCCTGGGCTGGGAGGAATGCCCCTTAAAGAGT
Task1_train_28765
This is a variant in IFT27 (intraflagellar transport 27), located on Chromosome 22. Is this mutation a likely cause of disease or not?
Pathogenic; Bardet-Biedl syndrome
AGCCTCGTTATAGGCTGAGGCCTCTACAGCACTTCCCAGAGGGGGAGGAGGCAGTCTGTACTGTCTTGGGAGGTAGGGGACACCATCTGAAAGGACAGTGTTGCTCTAAAGAAGGGAGGCCTCACAGGGGGAGGGCTGCAAGGACCGAGCCGCAGGGCTCTTGGCCCATTGGATCCTGGGCACCCCAGAGCTGGGGCCCGGGCAGTCACACGCATCAGCCACTCCTTCTTGCCAAGTATCCATGAGTCCTGGGCTGGGAGGAATGCCCCTTAAAGAGTAATGCCATGGGAGCTTCCCAACAGCACAGTGCAGGGAAACTGCTGTGTGAGCACTGTCAGGGGTAAACGTTTTGGCAGGAGGTGGTGACAGTCAGGAAAAAGACCACGTGCTACTTGCCAATTTATCCAGCATTTCCGAAAACAGCTCCTTGCCAGCAGAGTCAAAAATGAAGAGTTCCTACAATCAGAAAAGCAAGAAAAGTCTCCACGTGGAAAAACCACAAGCTACGAGTCACTGGTATCACTCTCAACTCACACTGGACTTGTCTTAGGGGTGAAATACAGGCACCCACATCTTCACACATGCTCTGTCTTTTCTCCCAGGCACGAGAGAAGATGAAGGGGAAAGGAGCGAACTCCAGAGTCTTAGAGAGGCAGTACGACGGGTTCTCGCACCAACCAGCACTTTCTGTGTGGAGTCTCACCTCTTGTAACCCTGAGTGCAAAAATACCAGGAACAAGCTGACTTCCCACCTGGCAGAACAGAATGCTAAACAGGCCGGTGAGTGCTCTGGTTTCCAAAAGGTCATTCTGCACTTTGTTAACCAAATTGATTTTCAAATCTTAGAACAATTCTTTCTAAAGGAGGTCACTGAGTAGGCCTGGGGAAGGTGTTTAAAGTAGGACATTCTGTCACCCTTCTGGGATGGCTAAGGTGTGAGGCAGACAGAGGGTGCGGGATGACCCTTCCTGCCCTGTCCAAACCTTCCCCAGCCCATGTGAGAACCCCCAGGGCTGGTCCCCTAGGAAATCACCCCTCGGCTCCCCCACAAGCTCCCTCCTGGCACTGGGTATTTCCTGGCTGGCCTCTGATCCCTGGCATACACCGTCTAAACATCAGCACCATTGTCTGTTTTGCATATTGGTTACCTGGGAACTCACCTTTCTCTTCATCAGAAGTACTTATACTTTTTTTTTTTTTCTCGCAGACCTCTTTAGGAATCTGGTGAAAGCTACAAACCCTCTCTCTAGAAAAGCACACACAAACATAACGTCTTGCAATTCACTTTCAAGAGCCCCAGGTTCCCATAAAGAGACTCAAGAACCTTGATAGTAGAGAACAAGTTCCTCAAGGGCCAGGCCCATCTCCTAGTCCTCCTTCCTTCCTTCCTCCTCCACCTCCTCAGTCCCTCCCTTGAATGCTTCCCGATTCTATTCCGAAATGCTCAGCCAAGTCTAGACCACAGCCTTGCACTGCATCTCTCCTAGGGAGGATGGTGTGACCACAGAGACCCTGGGCCCAGCTGGGGGAGCCCTGAGTTCCCCTGGGTAAAGGCATCACTCACCACACTGTCTCCCGTGTCAGGAACTGGCACTGTCTTCACCACCAAATCCATTCCTGTTGTCTGCCGAGGAACACCAAGAATGTTAGCACTGAGGGCCCCCAAAGGGAGAGCATGTTACAGGAGGACACACAAGCACCCCGATCCCAGGAGGGCTATCTCCAGTGGAAGGGTTTGTTCTGGACTCATTCTTGTGAGAAGCAGCTCAGCATGCAGAAGTCAGAGGGGACCAACTAGTCCTCTCCACCTCCCTGCCCTGATGTGAGCTGCTACACGTGGTGGCCAAGTTGCTTGTGGCCATTCTGCTCTGTAGCCAACCTCTCACCCTGGGCTAGTGGAAAAAACGATCTCCACGTGGCCCTCTGAGCAGCCTTTCATCAGCTGTCTTAAGGCTTCCCTCAAGGAACTTCGAAGTCACTCATCATGGTGAACCGAGCACTTCTCTATAAGCTGTGGCCAGGTCTTGACACCCCAGCTCACCAGGGTGTAGCTTTTCTGGAAATGGGCTCCATCACTGCGGAAGATCTGTGCCAGGGCGGTCTTGCCCACTGCTGGGTCTCCTGTGAGATCAGAAAAGAAGAAAAAGAACGCCTTAGTTCTCATCTGACTTGAGAATCTCCCGCTGCAGAACATTAGTCTAGAAACCAAAAACTTCAATGAGTTTTGAGAGATGTACTTGCCTCTCACGGGAACTTGTTCTGAGGCCGCGGGCAGGGCACAGGTCCATGAGACTGATCTGCAAACCTCACAACAGCCAGAGCACACTTCTGCACGGCTAAGCCTTTTATCCACAGGAACTGACCCAGAAGGTAACAGAACTTACAGAGGGCTTTGGGGCCCTGGAAACGGAACTGACGCTCTTCCACTGAAACACGCCCTATGGGGAAAAGCTGTCACTTCCAAACTGGAATTTACTTTGAAGTCTTGAAGGTAAAGAAGTGTGACTGGCACTGACAGGCAGAGTCACCTGTCCAACTGACCCAACCTGGGTTGACAGCTTCCACCTGAATACTTTTTTGTGTGGGGCGTGGGGGGTGGAAGGGTCTCTGCATTTGTGGGAAGCAAGAAGTCTGAGGCTGTGTTCATCATTCTGAAATCTCTTTCCAAATGCTATGCTCCATCTCCATCGCAGAATACCTGTCTGTGACCCAAGGATTCTTCTTCCCAGGGGCCTCTCCACCAATTCTATCTGCAATAGCAGTCACCTCCTCCAAGCTCATCTCTCACCTACTGGCTTTATCTCCCTCTCCTCTGCTGGTCAACAGCCCCAGAAACTGGTCCCTCAGAACTAAAGGTTTATGTCGCAGTTTTCAGTCTGAGACCTGAGCCTTTCACAAGACTGCTGGGAGCCATTTAATCGAGCGCTCCTCCCGTGCCCGTCACGGGTGCTGGAAGCTCTCCCTGCCCATCTTTAATTCCCTTTGCCCTCCCCATTTTCCCTCTCATGGCTCTGCTGAGCCTCCTTTGATGCTGATTGTTTCCATTTGCAGCCTCTTTTCCTCCTGAGTCTTACGTGGACTTGCACTCCACCGTCCAGGTCCTGGCAGAACACGTGCTTTCTGCTTCTCATCCTCTGGATCCTTAGCAAAATCAGCACCGCCCTCCGCGGCTTCCAACTCACATCACTTGGTACCATCTCTTCACCTTTGCTTCCCATTTTACAGTCGGCTTCAACACTCCTTTCCTCGACTTCTCAACAGTCTGCCACTGTTCACTTTTCAGTTTTGACTTTTCCCACCTATAATTTTCCCTTGTAAGACAATTATTTCAATGCTTGTGGCATTTCATTTTATGTGAACTCCTCCAGGTTTGAGTGAGCTATTCAGGTCCTGCTTTTCTATTTGTCATCACTCCTTAGAAGGGAACCAATATGTGCTGAGCCCCCCTCATGGACCTGTTCACACAATCCCATTCATTCCTTCCCCGCCAAGGTATCATTCACCTTACCTGACAGATGAAGAGACTGAGGCTCAGAGAGGCTGGGTAACTCGCCCAGGATTCCAACCTCACGCTCTTCCCAGGCCCTGCTCCTCTCCTAGAGCTCAGGGACCACTTCTGACACTTTTCTTGTTTTGAGATGGAGTCTCTGTCACGCAGGCTGAAGTACAGTGGTGCGATCTAGGCTCGCTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGACTACAGGTGCACGCCACCATGACCAGCTAATGTTTGTATTTTTAGTAGAGACGGGGTTTCACCAGGTTGGCCAGCCTGATCACAAACTCTTGACCTCAGGTGATCTGCCTGCCTCTGCCTGCCAAAGTGCTGGGATTACAGAAGTGAGTTCTGACCCATTTTTAATGCTGTCCCTCCAAGCCCTCCTCACCGCCTTCCATGACATCTGGGGCAACCACAGCCTAGACTGTCAAGGGGTACCCACCCATCTCGGAGCAAACAGAGCGCATCGCTTTCCTTCCTTGGGCCCTGACTGCACCCGCCCTCCCAACTTCAGCTCTGCTCCTGAATTCAGCTGGAAGTTGGC
AGCCTCGTTATAGGCTGAGGCCTCTACAGCACTTCCCAGAGGGGGAGGAGGCAGTCTGTACTGTCTTGGGAGGTAGGGGACACCATCTGAAAGGACAGTGTTGCTCTAAAGAAGGGAGGCCTCACAGGGGGAGGGCTGCAAGGACCGAGCCGCAGGGCTCTTGGCCCATTGGATCCTGGGCACCCCAGAGCTGGGGCCCGGGCAGTCACACGCATCAGCCACTCCTTCTTGCCAAGTATCCATGAGTCCTGGGCTGGGAGGAATGCCCCTTAAAGAGTAATGCCATGGGAGCTTCCCAACAGCACAGTGCAGGGAAACTGCTGTGTGAGCACTGTCAGGGGTAAACGTTTTGGCAGGAGGTGGTGACAGTCAGGAAAAAGACCACGTGCTACTTGCCAATTTATCCAGCATTTCCGAAAACAGCTCCTTGCCAGCAGAGTCAAAAATGAAGAGTTCCTACAATCAGAAAAGCAAGAAAAGTCTCCACGTGGAAAAACCACAAGCTACGAGTCACTGGTATCACTCTCAACTCACACTGGACTTGTCTTAGGGGTGAAATACAGGCACCCACATCTTCACACATGCTCTGTCTTTTCTCCCAGGCACGAGAGAAGATGAAGGGGAAAGGAGCGAACTCCAGAGTCTTAGAGAGGCAGTACGACGGGTTCTCGCACCAACCAGCACTTTCTGTGTGGAGTCTCACCTCTTGTAACCCTGAGTGCAAAAATACCAGGAACAAGCTGACTTCCCACCTGGCAGAACAGAATGCTAAACAGGCCGGTGAGTGCTCTGGTTTCCAAAAGGTCATTCTGCACTTTGTTAACCAAATTGATTTTCAAATCTTAGAACAATTCTTTCTAAAGGAGGTCACTGAGTAGGCCTGGGGAAGGTGTTTAAAGTAGGACATTCTGTCACCCTTCTGGGATGGCTAAGGTGTGAGGCAGACAGAGGGTGCGGGATGACCCTTCCTGCCCTGTCCAAACCTTCCCCAGCCCATGTGAGAACCCCCAGGGCTGGTCCCCTAGGAAATCACCCCTCGGCTCCCCCACAAGCTCCCTCCTGGCACTGGGTATTTCCTGGCTGGCCTCTGATCCCTGGCATACACCGTCTAAACATCAGCACCATTGTCTGTTTTGCATATTGGTTACCTGGGAACTCACCTTTCTCTTCATCAGAAGTACTTATACTTTTTTTTTTTTTCTCGCAGACCTCTTTAGGAATCTGGTGAAAGCTACAAACCCTCTCTCTAGAAAAGCACACACAAACATAACGTCTTGCAATTCACTTTCAAGAGCCCCAGGTTCCCATAAAGAGACTCAAGAACCTTGATAGTAGAGAACAAGTTCCTCAAGGGCCAGGCCCATCTCCTAGTCCTCCTTCCTTCCTTCCTCCTCCACCTCCTCAGTCCCTCCCTTGAATGCTTCCCGATTCTATTCCGAAATGCTCAGCCAAGTCTAGACCACAGCCTTGCACTGCATCTCTCCTAGGGAGGATGGTGTGACCACAGAGACCCTGGGCCCAGCTGGGGGAGCCCTGAGTTCCCCTGGGTAAAGGCATCACTCACCACACTGTCTCCCGTGTCAGGAACTGGCACTGTCTTCACCACCAAATCCATTCCTGTTGTCTGCCGAGGAACACCAAGAATGTTAGCACTGAGGGCCCCCAAAGGGAGAGCATGTTACAGGAGGACACACAAGCACCCCGATCCCAGGAGGGCTATCTCCAGTGGAAGGGTTTGTTCTGGACTCATTCTTGTGAGAAGCAGCTCAGCATGCAGAAGTCAGAGGGGACCAACTAGTCCTCTCCACCTCCCTGCCCTGATGTGAGCTGCTACACGTGGTGGCCAAGTTGCTTGTGGCCATTCTGCTCTGTAGCCAACCTCTCACCCTGGGCTAGTGGAAAAAACGATCTCCACGTGGCCCTCTGAGCAGCCTTTCATCAGCTGTCTTAAGGCTTCCCTCAAGGAACTTCGAAGTCACTCATCATGGTGAACCGAGCACTTCTCTATAAGCTGTGGCCAGGTCTTGACACCCCAGCTCACCAGGGTGCAGCTTTTCTGGAAATGGGCTCCATCACTGCGGAAGATCTGTGCCAGGGCGGTCTTGCCCACTGCTGGGTCTCCTGTGAGATCAGAAAAGAAGAAAAAGAACGCCTTAGTTCTCATCTGACTTGAGAATCTCCCGCTGCAGAACATTAGTCTAGAAACCAAAAACTTCAATGAGTTTTGAGAGATGTACTTGCCTCTCACGGGAACTTGTTCTGAGGCCGCGGGCAGGGCACAGGTCCATGAGACTGATCTGCAAACCTCACAACAGCCAGAGCACACTTCTGCACGGCTAAGCCTTTTATCCACAGGAACTGACCCAGAAGGTAACAGAACTTACAGAGGGCTTTGGGGCCCTGGAAACGGAACTGACGCTCTTCCACTGAAACACGCCCTATGGGGAAAAGCTGTCACTTCCAAACTGGAATTTACTTTGAAGTCTTGAAGGTAAAGAAGTGTGACTGGCACTGACAGGCAGAGTCACCTGTCCAACTGACCCAACCTGGGTTGACAGCTTCCACCTGAATACTTTTTTGTGTGGGGCGTGGGGGGTGGAAGGGTCTCTGCATTTGTGGGAAGCAAGAAGTCTGAGGCTGTGTTCATCATTCTGAAATCTCTTTCCAAATGCTATGCTCCATCTCCATCGCAGAATACCTGTCTGTGACCCAAGGATTCTTCTTCCCAGGGGCCTCTCCACCAATTCTATCTGCAATAGCAGTCACCTCCTCCAAGCTCATCTCTCACCTACTGGCTTTATCTCCCTCTCCTCTGCTGGTCAACAGCCCCAGAAACTGGTCCCTCAGAACTAAAGGTTTATGTCGCAGTTTTCAGTCTGAGACCTGAGCCTTTCACAAGACTGCTGGGAGCCATTTAATCGAGCGCTCCTCCCGTGCCCGTCACGGGTGCTGGAAGCTCTCCCTGCCCATCTTTAATTCCCTTTGCCCTCCCCATTTTCCCTCTCATGGCTCTGCTGAGCCTCCTTTGATGCTGATTGTTTCCATTTGCAGCCTCTTTTCCTCCTGAGTCTTACGTGGACTTGCACTCCACCGTCCAGGTCCTGGCAGAACACGTGCTTTCTGCTTCTCATCCTCTGGATCCTTAGCAAAATCAGCACCGCCCTCCGCGGCTTCCAACTCACATCACTTGGTACCATCTCTTCACCTTTGCTTCCCATTTTACAGTCGGCTTCAACACTCCTTTCCTCGACTTCTCAACAGTCTGCCACTGTTCACTTTTCAGTTTTGACTTTTCCCACCTATAATTTTCCCTTGTAAGACAATTATTTCAATGCTTGTGGCATTTCATTTTATGTGAACTCCTCCAGGTTTGAGTGAGCTATTCAGGTCCTGCTTTTCTATTTGTCATCACTCCTTAGAAGGGAACCAATATGTGCTGAGCCCCCCTCATGGACCTGTTCACACAATCCCATTCATTCCTTCCCCGCCAAGGTATCATTCACCTTACCTGACAGATGAAGAGACTGAGGCTCAGAGAGGCTGGGTAACTCGCCCAGGATTCCAACCTCACGCTCTTCCCAGGCCCTGCTCCTCTCCTAGAGCTCAGGGACCACTTCTGACACTTTTCTTGTTTTGAGATGGAGTCTCTGTCACGCAGGCTGAAGTACAGTGGTGCGATCTAGGCTCGCTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGACTACAGGTGCACGCCACCATGACCAGCTAATGTTTGTATTTTTAGTAGAGACGGGGTTTCACCAGGTTGGCCAGCCTGATCACAAACTCTTGACCTCAGGTGATCTGCCTGCCTCTGCCTGCCAAAGTGCTGGGATTACAGAAGTGAGTTCTGACCCATTTTTAATGCTGTCCCTCCAAGCCCTCCTCACCGCCTTCCATGACATCTGGGGCAACCACAGCCTAGACTGTCAAGGGGTACCCACCCATCTCGGAGCAAACAGAGCGCATCGCTTTCCTTCCTTGGGCCCTGACTGCACCCGCCCTCCCAACTTCAGCTCTGCTCCTGAATTCAGCTGGAAGTTGGC
Task1_train_28766
A genetic alteration is present in NCF4, NCF4-AS1 (neutrophil cytosolic factor 4| NCF4 antisense RNA 1) on Chromosome 22. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
AGAGACAGGAATCCCCCAGTCTGGTCCCTAAACACACTGACTCACCTCCCTGCCCACCCTCAGCTTCCTCCCACGAGACCAGCCCTCTGACTTCATGGTCTTGGCTTCCAGCGTCCCTGTGGCTCTCCTTCTTCTCCTGTCCCGCCAGGAAGCTGGGTGGCCTCAAGCCTCTGCTTGCAAACAGTCTCCCCGCCCCCTGGCCTCCTGGTCCTTCCTCCCCAGCTGGATCCTAACGCGCACCTTGGACAGCGCCAAGCCCTTAGCTGCTCAGCACCTGCCCCGCAGGAGGAAACCCCATCACGAATGGGTTACACGGGGGTGGTCTCAGCGGCGCCCTTCGTGCCCTGCAAGTTAGAGACAGGGACAATTGTCTCCCTTCCCCAAGCCTCAGGGACCCTTCCCCAAGCTCCAACCCCATCTCCAGTTTGTTTTTTCTGTCTCTGTTTCTGTCTCTCTCTGTCTCAGCATATGACCCCGCTCCTTCTCATCCAGCCCCACCAAGGAACTTGAAGCTCCCCCTAGGAGTCTTGCCTACTCTAAGCCAGCCTCCCCTCTCAGGCTCCATCATTTTCCCTCCTCTCTCTTTTGGGGCTCTCTCCTGACAATCTACCCCTCCTTTTCCTTGTATATTCATCTTCCTCTTGATATACCAACTCCCTCTGCTAAGCGTCTCCACAGCCTCAACCCTCTTCTGTCTTTAAACAATCCTGAGCCATGAAACAGCATTCTTACAAGCCTCCCTGAGCCTCCGTGCCCCCAGGGCCCCCAAAGTTCTCTTTCTTCTTCCTTTGGCATCAAATTCACGCACTGTCTCACCTTGGCATGGCCATCCTCTCCTTAACTCCTCAGCTTGGTTTAGCTCTGACTACTCCACTGAAATTCCTCTCGGTGAGGTGGGCCATGACCCATCAATTCTGGCTTCCATGGCCAGTGCCAAGCCTCATCTTCACACCCCCACTCCTTCCTCTGTTAAGCTTTCTCCAACCTCCTGAGGCACCAGTGTCTCCCAATCCCCTTCCTAGCTTACTAGAGACTCCTTCAGCTTCTCTGTTACAGAATCAACCTTCTCTGCTGCTCCTTGGAAGGTGGGGATCCTCTGAGCAGACATCCTCTCTCCCCTGCCTTGTCTTCTCATTCCAAACACTCACCCTGGCAAACTGACCCATGTCTGGGACTTAATTGTCACGTTTTTGCTCCTAACTCCCAATGTCTAGCTCTAGCCCAGACCCTCCTACCGCCGCCGCCATCACCTCTGTCCATCTCCTGGACACCAGGAGCCAGGCAGGTTTCAGACTTGCTTCCTCGTAGGGGTTCTCTTGGTGAATGGTTCCACCAGTGCGCCCACATGAAGGCACCTGGAGGGGACATTTGTCTCTTGGTAGCCCGTCATATTTCCTTTTCCTCCAGAACATCTGCCTTGAGCTTGAGGAATTGTTCATTCATCCACTTAACAAATGCTCATTCATCTGGGCATGATTCTAGACCCATGGTTCTTAACTTTGGTGGTATGTGGACGTGCCTTGAGAGATGGAAAGAATCCTGGTTCCTGAGTCCTGCCCCCGGAGATTCTGATTTAATTGCTCTGGGGCAAGTGCTACACAGTGAGATATTTACAAGCTCCTTGGGTAGCTTGAATGTGCAGCCGGTGTTGCCACTGTCCTGGGTGATGGGGGTACAGCTGTGAGCCAAGCAGGTGAAAATCCTGCTCTCTTAGAACTAAGAGTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCTTGGATGAACAGGCAGTAAATAAAAAAGTAAGACAAGAAAAATATCAGCTGGTGATAGCACAACTGAGAGGATGAAAGTTGGATGGTGCCAGAGTGGCCACTTCAGTGCTGTGAAAAGATAACAGGGAAGAATGCTGAGCCATCGGGAAGGGGCTCTGGCCAGGGTTCCTGGCCTGTAGGGGCAGCCCTGAGCCCCGGGGCCATGTTGGGCCAGGCTCCTAGGACAGCTCTTTGTCTCTTCTCAGCCAAAGTCTACGTGGGTGTGAAACAGGAGATCGCCGAGATGCGGATACCTGCCCTCAACGCCTACATGAAGGTACCAGTGGGCCTTGCCACCTTGGCACGTGGAAGGGCATGCAGTATTGGTGGGGGAGCCCACGTACCATCCCTGGGTATGGCTTTGGGAACTGGGGCTGGCTCTCTGGCTCTGATGGCCCCATCTTCAATCCCTAAAGGCCTGGTCTGGGGAGTAAAACAGGATGCGTCCTTAGGGTTCCAGAGATAGGAGCAGGAGCAACGGAGAAGGTAAAAGAGCCACACTAGGAATTGACAAGTCTTCATTTAATGCTCCAAGCCCCACAGGTGAATGTCTATGCCAGGAGTTAAAATACAAAGGTGAATTCCATCCAGTGTCTGCCCCCAAGGTACCCACTGTCCTATGGGAATGCCAACAGGTGGATCATAAGATCACACGGAGACATATGTGTGCCTCCATCATGGGGGTGTGGCCAAGCAGGCCGCAGGTTGCTCATATAGCATCTTTGTGCAAACTAGAGTAGGCCTCCTCTGGGACAACTCACTCCCTTACGTGAACATGGGCTGGATTTTAGCTACACTCATGGGTCTTGGCTGGGGGCCCTTGTGTATTCTCCGACTTGCAAACTCTGCATCTCTATGAGATGGGAGCGTAGAGGAAGGAGCATCTTAAAGGCAGAGGCCAAGGTGGTCAGGAAAGGACTTCCACCAGCCACAGCCATCCAGGAAAGGGGCAGTGTTCCTCATGAGGTGGCAGTGAGTGCACCGTCGCTAGAGACCTGATAGTGACCTCAGGAAGCTGGCAAGCGAAGCCCTCCTCCCAGCCCAGCGGCATCCTCACAGCTGGAGAGCGCTGGGCTAGGATCCTTTAGTCTTGACTCTGACACTGACTGGCTGGGTGATTTGGGGTGAGTTGCCCATCCTCTCTAGGCCTTGGTTTTCACACTTGTGAAATGGGGCAGTGCCCTCTAGTATCACAGGAGTGAAGTTGGGATCTGTCGAGAACAGGATGAGAAAGTGCTTTGTAAACTGTGAACCTGCTTCCAGAATGTGAGAGATCTTGACTCCTGATGGAGGGAAGGAGCAGATGGAGGGCAGAGGAGGTGGGAGGAAGGAGGAGAGAGCAGGTAGCTGCAGGAATCCTGGGCTCTGAGCAGGGAAGAGGGAGGGAGGGGAGCTGGGTGGGCTCCAGCTGCTCCTTCAGGGTGGCTGAGGCTCCACCCTTCTCCCCCTGGGCTAGAATAGGGGAGTGGGCTGTGAAGGGAGGGAGGGAGGGAAGGAGGAAGAGAAGGCAGGAGGCGAGGCTGGGGAACTGGGGCTCCTCATTCCACACCTGGTCTTAGCAACCAGCAGCCCAGAGGATCCATCTCTGCCTCTTTGTGTCCAATTGGGTTCCTGGAAGCCAGAGATCATTCAGGGCAGGAATCTCTGCCATGGCCACCCCATCCTGTGCTTGCATACCCTCAGAGATGGGGAGCTCACTACCACTCCGCCCTGACCCAGGCTGCCTGTCCCATTGTTGGGCAGCTATGAGAAAAGCCCAACTCTCTGTAAGTCCTACCCACTGGTCTCACCCCGCCCTCATGAAGAATGTGAATCACATGATAATGACAACTGCCTGGAACTGCGTGAAGAGCTTTGACTGGCAACCAGGAGACTCTTGATACACGTTTATTGATAAATGAATAATCTTATTTAATCCCCTCAATAACTTGTGAGTTAAGTGTGACAGAGCAGTTAGGTAGGTGGGATGAGATTTGAATTCACATCTCTGTGACTCCAGGGTTTGAGCTCTTACCCACTGTGCCTCGTTGTAATGAAAATCACAGTAACAATGATGACATCTAACTTTGATGGGCACCTGGTATATGCCTGGTGTTGTTCTAAGGATTCTGCATGTATTTACTCATTTAATTCTCACACAATCCCACGAGGGAGAGGCTATTATTGTCCCCATTTTATTAATGACCATCTGGAGCCAGGTTTGCCCAAAGCCACCCAGCTGGTGACAGGCAGAGCTGGGATTCGATCCCAGGAGCCCCTGGCTCCTTAAACACCTCCCAGGCTGTCCCCATATGAC
AGAGACAGGAATCCCCCAGTCTGGTCCCTAAACACACTGACTCACCTCCCTGCCCACCCTCAGCTTCCTCCCACGAGACCAGCCCTCTGACTTCATGGTCTTGGCTTCCAGCGTCCCTGTGGCTCTCCTTCTTCTCCTGTCCCGCCAGGAAGCTGGGTGGCCTCAAGCCTCTGCTTGCAAACAGTCTCCCCGCCCCCTGGCCTCCTGGTCCTTCCTCCCCAGCTGGATCCTAACGCGCACCTTGGACAGCGCCAAGCCCTTAGCTGCTCAGCACCTGCCCCGCAGGAGGAAACCCCATCACGAATGGGTTACACGGGGGTGGTCTCAGCGGCGCCCTTCGTGCCCTGCAAGTTAGAGACAGGGACAATTGTCTCCCTTCCCCAAGCCTCAGGGACCCTTCCCCAAGCTCCAACCCCATCTCCAGTTTGTTTTTTCTGTCTCTGTTTCTGTCTCTCTCTGTCTCAGCATATGACCCCGCTCCTTCTCATCCAGCCCCACCAAGGAACTTGAAGCTCCCCCTAGGAGTCTTGCCTACTCTAAGCCAGCCTCCCCTCTCAGGCTCCATCATTTTCCCTCCTCTCTCTTTTGGGGCTCTCTCCTGACAATCTACCCCTCCTTTTCCTTGTATATTCATCTTCCTCTTGATATACCAACTCCCTCTGCTAAGCGTCTCCACAGCCTCAACCCTCTTCTGTCTTTAAACAATCCTGAGCCATGAAACAGCATTCTTACAAGCCTCCCTGAGCCTCCGTGCCCCCAGGGCCCCCAAAGTTCTCTTTCTTCTTCCTTTGGCATCAAATTCACGCACTGTCTCACCTTGGCATGGCCATCCTCTCCTTAACTCCTCAGCTTGGTTTAGCTCTGACTACTCCACTGAAATTCCTCTCGGTGAGGTGGGCCATGACCCATCAATTCTGGCTTCCATGGCCAGTGCCAAGCCTCATCTTCACACCCCCACTCCTTCCTCTGTTAAGCTTTCTCCAACCTCCTGAGGCACCAGTGTCTCCCAATCCCCTTCCTAGCTTACTAGAGACTCCTTCAGCTTCTCTGTTACAGAATCAACCTTCTCTGCTGCTCCTTGGAAGGTGGGGATCCTCTGAGCAGACATCCTCTCTCCCCTGCCTTGTCTTCTCATTCCAAACACTCACCCTGGCAAACTGACCCATGTCTGGGACTTAATTGTCACGTTTTTGCTCCTAACTCCCAATGTCTAGCTCTAGCCCAGACCCTCCTACCGCCGCCGCCATCACCTCTGTCCATCTCCTGGACACCAGGAGCCAGGCAGGTTTCAGACTTGCTTCCTCGTAGGGGTTCTCTTGGTGAATGGTTCCACCAGTGCGCCCACATGAAGGCACCTGGAGGGGACATTTGTCTCTTGGTAGCCCGTCATATTTCCTTTTCCTCCAGAACATCTGCCTTGAGCTTGAGGAATTGTTCATTCATCCACTTAACAAATGCTCATTCATCTGGGCATGATTCTAGACCCATGGTTCTTAACTTTGGTGGTATGTGGACGTGCCTTGAGAGATGGAAAGAATCCTGGTTCCTGAGTCCTGCCCCCGGAGATTCTGATTTAATTGCTCTGGGGCAAGTGCTACACAGTGAGATATTTACAAGCTCCTTGGGTAGCTTGAATGTGCAGCCGGTGTTGCCACTGTCCTGGGTGATGGGGGTACAGCTGTGAGCCAAGCAGGTGAAAATCCTGCTCTCTTAGAACTAAGAGTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCTTGGATGAACAGGCAGTAAATAAAAAAGTAAGACAAGAAAAATATCAGCTGGTGATAGCACAACTGAGAGGATGAAAGTTGGATGGTGCCAGAGTGGCCACTTCAGTGCTGTGAAAAGATAACAGGGAAGAATGCTGAGCCATCGGGAAGGGGCTCTGGCCAGGGTTCCTGGCCTGTAGGGGCAGCCCTGAGCCCCGGGGCCATGTTGGGCCAGGCTCCTAGGACAGCTCTTTGTCTCTTCTCAGCCAAAGTCTACGTGGGTGTGAAACAGGAGATCGCCGAGATGCAGATACCTGCCCTCAACGCCTACATGAAGGTACCAGTGGGCCTTGCCACCTTGGCACGTGGAAGGGCATGCAGTATTGGTGGGGGAGCCCACGTACCATCCCTGGGTATGGCTTTGGGAACTGGGGCTGGCTCTCTGGCTCTGATGGCCCCATCTTCAATCCCTAAAGGCCTGGTCTGGGGAGTAAAACAGGATGCGTCCTTAGGGTTCCAGAGATAGGAGCAGGAGCAACGGAGAAGGTAAAAGAGCCACACTAGGAATTGACAAGTCTTCATTTAATGCTCCAAGCCCCACAGGTGAATGTCTATGCCAGGAGTTAAAATACAAAGGTGAATTCCATCCAGTGTCTGCCCCCAAGGTACCCACTGTCCTATGGGAATGCCAACAGGTGGATCATAAGATCACACGGAGACATATGTGTGCCTCCATCATGGGGGTGTGGCCAAGCAGGCCGCAGGTTGCTCATATAGCATCTTTGTGCAAACTAGAGTAGGCCTCCTCTGGGACAACTCACTCCCTTACGTGAACATGGGCTGGATTTTAGCTACACTCATGGGTCTTGGCTGGGGGCCCTTGTGTATTCTCCGACTTGCAAACTCTGCATCTCTATGAGATGGGAGCGTAGAGGAAGGAGCATCTTAAAGGCAGAGGCCAAGGTGGTCAGGAAAGGACTTCCACCAGCCACAGCCATCCAGGAAAGGGGCAGTGTTCCTCATGAGGTGGCAGTGAGTGCACCGTCGCTAGAGACCTGATAGTGACCTCAGGAAGCTGGCAAGCGAAGCCCTCCTCCCAGCCCAGCGGCATCCTCACAGCTGGAGAGCGCTGGGCTAGGATCCTTTAGTCTTGACTCTGACACTGACTGGCTGGGTGATTTGGGGTGAGTTGCCCATCCTCTCTAGGCCTTGGTTTTCACACTTGTGAAATGGGGCAGTGCCCTCTAGTATCACAGGAGTGAAGTTGGGATCTGTCGAGAACAGGATGAGAAAGTGCTTTGTAAACTGTGAACCTGCTTCCAGAATGTGAGAGATCTTGACTCCTGATGGAGGGAAGGAGCAGATGGAGGGCAGAGGAGGTGGGAGGAAGGAGGAGAGAGCAGGTAGCTGCAGGAATCCTGGGCTCTGAGCAGGGAAGAGGGAGGGAGGGGAGCTGGGTGGGCTCCAGCTGCTCCTTCAGGGTGGCTGAGGCTCCACCCTTCTCCCCCTGGGCTAGAATAGGGGAGTGGGCTGTGAAGGGAGGGAGGGAGGGAAGGAGGAAGAGAAGGCAGGAGGCGAGGCTGGGGAACTGGGGCTCCTCATTCCACACCTGGTCTTAGCAACCAGCAGCCCAGAGGATCCATCTCTGCCTCTTTGTGTCCAATTGGGTTCCTGGAAGCCAGAGATCATTCAGGGCAGGAATCTCTGCCATGGCCACCCCATCCTGTGCTTGCATACCCTCAGAGATGGGGAGCTCACTACCACTCCGCCCTGACCCAGGCTGCCTGTCCCATTGTTGGGCAGCTATGAGAAAAGCCCAACTCTCTGTAAGTCCTACCCACTGGTCTCACCCCGCCCTCATGAAGAATGTGAATCACATGATAATGACAACTGCCTGGAACTGCGTGAAGAGCTTTGACTGGCAACCAGGAGACTCTTGATACACGTTTATTGATAAATGAATAATCTTATTTAATCCCCTCAATAACTTGTGAGTTAAGTGTGACAGAGCAGTTAGGTAGGTGGGATGAGATTTGAATTCACATCTCTGTGACTCCAGGGTTTGAGCTCTTACCCACTGTGCCTCGTTGTAATGAAAATCACAGTAACAATGATGACATCTAACTTTGATGGGCACCTGGTATATGCCTGGTGTTGTTCTAAGGATTCTGCATGTATTTACTCATTTAATTCTCACACAATCCCACGAGGGAGAGGCTATTATTGTCCCCATTTTATTAATGACCATCTGGAGCCAGGTTTGCCCAAAGCCACCCAGCTGGTGACAGGCAGAGCTGGGATTCGATCCCAGGAGCCCCTGGCTCCTTAAACACCTCCCAGGCTGTCCCCATATGAC
Task1_train_28767
A genomic change on Chromosome 22 affects NCF4, NCF4-AS1 (neutrophil cytosolic factor 4| NCF4 antisense RNA 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Chronic granulomatous disease
AGAGACAGGAATCCCCCAGTCTGGTCCCTAAACACACTGACTCACCTCCCTGCCCACCCTCAGCTTCCTCCCACGAGACCAGCCCTCTGACTTCATGGTCTTGGCTTCCAGCGTCCCTGTGGCTCTCCTTCTTCTCCTGTCCCGCCAGGAAGCTGGGTGGCCTCAAGCCTCTGCTTGCAAACAGTCTCCCCGCCCCCTGGCCTCCTGGTCCTTCCTCCCCAGCTGGATCCTAACGCGCACCTTGGACAGCGCCAAGCCCTTAGCTGCTCAGCACCTGCCCCGCAGGAGGAAACCCCATCACGAATGGGTTACACGGGGGTGGTCTCAGCGGCGCCCTTCGTGCCCTGCAAGTTAGAGACAGGGACAATTGTCTCCCTTCCCCAAGCCTCAGGGACCCTTCCCCAAGCTCCAACCCCATCTCCAGTTTGTTTTTTCTGTCTCTGTTTCTGTCTCTCTCTGTCTCAGCATATGACCCCGCTCCTTCTCATCCAGCCCCACCAAGGAACTTGAAGCTCCCCCTAGGAGTCTTGCCTACTCTAAGCCAGCCTCCCCTCTCAGGCTCCATCATTTTCCCTCCTCTCTCTTTTGGGGCTCTCTCCTGACAATCTACCCCTCCTTTTCCTTGTATATTCATCTTCCTCTTGATATACCAACTCCCTCTGCTAAGCGTCTCCACAGCCTCAACCCTCTTCTGTCTTTAAACAATCCTGAGCCATGAAACAGCATTCTTACAAGCCTCCCTGAGCCTCCGTGCCCCCAGGGCCCCCAAAGTTCTCTTTCTTCTTCCTTTGGCATCAAATTCACGCACTGTCTCACCTTGGCATGGCCATCCTCTCCTTAACTCCTCAGCTTGGTTTAGCTCTGACTACTCCACTGAAATTCCTCTCGGTGAGGTGGGCCATGACCCATCAATTCTGGCTTCCATGGCCAGTGCCAAGCCTCATCTTCACACCCCCACTCCTTCCTCTGTTAAGCTTTCTCCAACCTCCTGAGGCACCAGTGTCTCCCAATCCCCTTCCTAGCTTACTAGAGACTCCTTCAGCTTCTCTGTTACAGAATCAACCTTCTCTGCTGCTCCTTGGAAGGTGGGGATCCTCTGAGCAGACATCCTCTCTCCCCTGCCTTGTCTTCTCATTCCAAACACTCACCCTGGCAAACTGACCCATGTCTGGGACTTAATTGTCACGTTTTTGCTCCTAACTCCCAATGTCTAGCTCTAGCCCAGACCCTCCTACCGCCGCCGCCATCACCTCTGTCCATCTCCTGGACACCAGGAGCCAGGCAGGTTTCAGACTTGCTTCCTCGTAGGGGTTCTCTTGGTGAATGGTTCCACCAGTGCGCCCACATGAAGGCACCTGGAGGGGACATTTGTCTCTTGGTAGCCCGTCATATTTCCTTTTCCTCCAGAACATCTGCCTTGAGCTTGAGGAATTGTTCATTCATCCACTTAACAAATGCTCATTCATCTGGGCATGATTCTAGACCCATGGTTCTTAACTTTGGTGGTATGTGGACGTGCCTTGAGAGATGGAAAGAATCCTGGTTCCTGAGTCCTGCCCCCGGAGATTCTGATTTAATTGCTCTGGGGCAAGTGCTACACAGTGAGATATTTACAAGCTCCTTGGGTAGCTTGAATGTGCAGCCGGTGTTGCCACTGTCCTGGGTGATGGGGGTACAGCTGTGAGCCAAGCAGGTGAAAATCCTGCTCTCTTAGAACTAAGAGTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCTTGGATGAACAGGCAGTAAATAAAAAAGTAAGACAAGAAAAATATCAGCTGGTGATAGCACAACTGAGAGGATGAAAGTTGGATGGTGCCAGAGTGGCCACTTCAGTGCTGTGAAAAGATAACAGGGAAGAATGCTGAGCCATCGGGAAGGGGCTCTGGCCAGGGTTCCTGGCCTGTAGGGGCAGCCCTGAGCCCCGGGGCCATGTTGGGCCAGGCTCCTAGGACAGCTCTTTGTCTCTTCTCAGCCAAAGTCTACGTGGGTGTGAAACAGGAGATCGCCGAGATGCGGATACCTGCCCTCAACGCCTACATGAAGGTACCAGTGGGCCTTGCCACCTTGGCACGTGGAAGGGCATGCAGTATTGGTGGGGGAGCCCACGTACCATCCCTGGGTATGGCTTTGGGAACTGGGGCTGGCTCTCTGGCTCTGATGGCCCCATCTTCAATCCCTAAAGGCCTGGTCTGGGGAGTAAAACAGGATGCGTCCTTAGGGTTCCAGAGATAGGAGCAGGAGCAACGGAGAAGGTAAAAGAGCCACACTAGGAATTGACAAGTCTTCATTTAATGCTCCAAGCCCCACAGGTGAATGTCTATGCCAGGAGTTAAAATACAAAGGTGAATTCCATCCAGTGTCTGCCCCCAAGGTACCCACTGTCCTATGGGAATGCCAACAGGTGGATCATAAGATCACACGGAGACATATGTGTGCCTCCATCATGGGGGTGTGGCCAAGCAGGCCGCAGGTTGCTCATATAGCATCTTTGTGCAAACTAGAGTAGGCCTCCTCTGGGACAACTCACTCCCTTACGTGAACATGGGCTGGATTTTAGCTACACTCATGGGTCTTGGCTGGGGGCCCTTGTGTATTCTCCGACTTGCAAACTCTGCATCTCTATGAGATGGGAGCGTAGAGGAAGGAGCATCTTAAAGGCAGAGGCCAAGGTGGTCAGGAAAGGACTTCCACCAGCCACAGCCATCCAGGAAAGGGGCAGTGTTCCTCATGAGGTGGCAGTGAGTGCACCGTCGCTAGAGACCTGATAGTGACCTCAGGAAGCTGGCAAGCGAAGCCCTCCTCCCAGCCCAGCGGCATCCTCACAGCTGGAGAGCGCTGGGCTAGGATCCTTTAGTCTTGACTCTGACACTGACTGGCTGGGTGATTTGGGGTGAGTTGCCCATCCTCTCTAGGCCTTGGTTTTCACACTTGTGAAATGGGGCAGTGCCCTCTAGTATCACAGGAGTGAAGTTGGGATCTGTCGAGAACAGGATGAGAAAGTGCTTTGTAAACTGTGAACCTGCTTCCAGAATGTGAGAGATCTTGACTCCTGATGGAGGGAAGGAGCAGATGGAGGGCAGAGGAGGTGGGAGGAAGGAGGAGAGAGCAGGTAGCTGCAGGAATCCTGGGCTCTGAGCAGGGAAGAGGGAGGGAGGGGAGCTGGGTGGGCTCCAGCTGCTCCTTCAGGGTGGCTGAGGCTCCACCCTTCTCCCCCTGGGCTAGAATAGGGGAGTGGGCTGTGAAGGGAGGGAGGGAGGGAAGGAGGAAGAGAAGGCAGGAGGCGAGGCTGGGGAACTGGGGCTCCTCATTCCACACCTGGTCTTAGCAACCAGCAGCCCAGAGGATCCATCTCTGCCTCTTTGTGTCCAATTGGGTTCCTGGAAGCCAGAGATCATTCAGGGCAGGAATCTCTGCCATGGCCACCCCATCCTGTGCTTGCATACCCTCAGAGATGGGGAGCTCACTACCACTCCGCCCTGACCCAGGCTGCCTGTCCCATTGTTGGGCAGCTATGAGAAAAGCCCAACTCTCTGTAAGTCCTACCCACTGGTCTCACCCCGCCCTCATGAAGAATGTGAATCACATGATAATGACAACTGCCTGGAACTGCGTGAAGAGCTTTGACTGGCAACCAGGAGACTCTTGATACACGTTTATTGATAAATGAATAATCTTATTTAATCCCCTCAATAACTTGTGAGTTAAGTGTGACAGAGCAGTTAGGTAGGTGGGATGAGATTTGAATTCACATCTCTGTGACTCCAGGGTTTGAGCTCTTACCCACTGTGCCTCGTTGTAATGAAAATCACAGTAACAATGATGACATCTAACTTTGATGGGCACCTGGTATATGCCTGGTGTTGTTCTAAGGATTCTGCATGTATTTACTCATTTAATTCTCACACAATCCCACGAGGGAGAGGCTATTATTGTCCCCATTTTATTAATGACCATCTGGAGCCAGGTTTGCCCAAAGCCACCCAGCTGGTGACAGGCAGAGCTGGGATTCGATCCCAGGAGCCCCTGGCTCCTTAAACACCTCCCAGGCTGTCCCCATATGAC
AGAGACAGGAATCCCCCAGTCTGGTCCCTAAACACACTGACTCACCTCCCTGCCCACCCTCAGCTTCCTCCCACGAGACCAGCCCTCTGACTTCATGGTCTTGGCTTCCAGCGTCCCTGTGGCTCTCCTTCTTCTCCTGTCCCGCCAGGAAGCTGGGTGGCCTCAAGCCTCTGCTTGCAAACAGTCTCCCCGCCCCCTGGCCTCCTGGTCCTTCCTCCCCAGCTGGATCCTAACGCGCACCTTGGACAGCGCCAAGCCCTTAGCTGCTCAGCACCTGCCCCGCAGGAGGAAACCCCATCACGAATGGGTTACACGGGGGTGGTCTCAGCGGCGCCCTTCGTGCCCTGCAAGTTAGAGACAGGGACAATTGTCTCCCTTCCCCAAGCCTCAGGGACCCTTCCCCAAGCTCCAACCCCATCTCCAGTTTGTTTTTTCTGTCTCTGTTTCTGTCTCTCTCTGTCTCAGCATATGACCCCGCTCCTTCTCATCCAGCCCCACCAAGGAACTTGAAGCTCCCCCTAGGAGTCTTGCCTACTCTAAGCCAGCCTCCCCTCTCAGGCTCCATCATTTTCCCTCCTCTCTCTTTTGGGGCTCTCTCCTGACAATCTACCCCTCCTTTTCCTTGTATATTCATCTTCCTCTTGATATACCAACTCCCTCTGCTAAGCGTCTCCACAGCCTCAACCCTCTTCTGTCTTTAAACAATCCTGAGCCATGAAACAGCATTCTTACAAGCCTCCCTGAGCCTCCGTGCCCCCAGGGCCCCCAAAGTTCTCTTTCTTCTTCCTTTGGCATCAAATTCACGCACTGTCTCACCTTGGCATGGCCATCCTCTCCTTAACTCCTCAGCTTGGTTTAGCTCTGACTACTCCACTGAAATTCCTCTCGGTGAGGTGGGCCATGACCCATCAATTCTGGCTTCCATGGCCAGTGCCAAGCCTCATCTTCACACCCCCACTCCTTCCTCTGTTAAGCTTTCTCCAACCTCCTGAGGCACCAGTGTCTCCCAATCCCCTTCCTAGCTTACTAGAGACTCCTTCAGCTTCTCTGTTACAGAATCAACCTTCTCTGCTGCTCCTTGGAAGGTGGGGATCCTCTGAGCAGACATCCTCTCTCCCCTGCCTTGTCTTCTCATTCCAAACACTCACCCTGGCAAACTGACCCATGTCTGGGACTTAATTGTCACGTTTTTGCTCCTAACTCCCAATGTCTAGCTCTAGCCCAGACCCTCCTACCGCCGCCGCCATCACCTCTGTCCATCTCCTGGACACCAGGAGCCAGGCAGGTTTCAGACTTGCTTCCTCGTAGGGGTTCTCTTGGTGAATGGTTCCACCAGTGCGCCCACATGAAGGCACCTGGAGGGGACATTTGTCTCTTGGTAGCCCGTCATATTTCCTTTTCCTCCAGAACATCTGCCTTGAGCTTGAGGAATTGTTCATTCATCCACTTAACAAATGCTCATTCATCTGGGCATGATTCTAGACCCATGGTTCTTAACTTTGGTGGTATGTGGACGTGCCTTGAGAGATGGAAAGAATCCTGGTTCCTGAGTCCTGCCCCCGGAGATTCTGATTTAATTGCTCTGGGGCAAGTGCTACACAGTGAGATATTTACAAGCTCCTTGGGTAGCTTGAATGTGCAGCCGGTGTTGCCACTGTCCTGGGTGATGGGGGTACAGCTGTGAGCCAAGCAGGTGAAAATCCTGCTCTCTTAGAACTAAGAGTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCTTGGATGAACAGGCAGTAAATAAAAAAGTAAGACAAGAAAAATATCAGCTGGTGATAGCACAACTGAGAGGATGAAAGTTGGATGGTGCCAGAGTGGCCACTTCAGTGCTGTGAAAAGATAACAGGGAAGAATGCTGAGCCATCGGGAAGGGGCTCTGGCCAGGGTTCCTGGCCTGTAGGGGCAGCCCTGAGCCCCGGGGCCATGTTGGGCCAGGCTCCTAGGACAGCTCTTTGTCTCTTCTCAGCCAAAGTCTACGTGGGTGTGAAACAGGAGATCGCCGAGATGCAGATACCTGCCCTCAACGCCTACATGAAGGTACCAGTGGGCCTTGCCACCTTGGCACGTGGAAGGGCATGCAGTATTGGTGGGGGAGCCCACGTACCATCCCTGGGTATGGCTTTGGGAACTGGGGCTGGCTCTCTGGCTCTGATGGCCCCATCTTCAATCCCTAAAGGCCTGGTCTGGGGAGTAAAACAGGATGCGTCCTTAGGGTTCCAGAGATAGGAGCAGGAGCAACGGAGAAGGTAAAAGAGCCACACTAGGAATTGACAAGTCTTCATTTAATGCTCCAAGCCCCACAGGTGAATGTCTATGCCAGGAGTTAAAATACAAAGGTGAATTCCATCCAGTGTCTGCCCCCAAGGTACCCACTGTCCTATGGGAATGCCAACAGGTGGATCATAAGATCACACGGAGACATATGTGTGCCTCCATCATGGGGGTGTGGCCAAGCAGGCCGCAGGTTGCTCATATAGCATCTTTGTGCAAACTAGAGTAGGCCTCCTCTGGGACAACTCACTCCCTTACGTGAACATGGGCTGGATTTTAGCTACACTCATGGGTCTTGGCTGGGGGCCCTTGTGTATTCTCCGACTTGCAAACTCTGCATCTCTATGAGATGGGAGCGTAGAGGAAGGAGCATCTTAAAGGCAGAGGCCAAGGTGGTCAGGAAAGGACTTCCACCAGCCACAGCCATCCAGGAAAGGGGCAGTGTTCCTCATGAGGTGGCAGTGAGTGCACCGTCGCTAGAGACCTGATAGTGACCTCAGGAAGCTGGCAAGCGAAGCCCTCCTCCCAGCCCAGCGGCATCCTCACAGCTGGAGAGCGCTGGGCTAGGATCCTTTAGTCTTGACTCTGACACTGACTGGCTGGGTGATTTGGGGTGAGTTGCCCATCCTCTCTAGGCCTTGGTTTTCACACTTGTGAAATGGGGCAGTGCCCTCTAGTATCACAGGAGTGAAGTTGGGATCTGTCGAGAACAGGATGAGAAAGTGCTTTGTAAACTGTGAACCTGCTTCCAGAATGTGAGAGATCTTGACTCCTGATGGAGGGAAGGAGCAGATGGAGGGCAGAGGAGGTGGGAGGAAGGAGGAGAGAGCAGGTAGCTGCAGGAATCCTGGGCTCTGAGCAGGGAAGAGGGAGGGAGGGGAGCTGGGTGGGCTCCAGCTGCTCCTTCAGGGTGGCTGAGGCTCCACCCTTCTCCCCCTGGGCTAGAATAGGGGAGTGGGCTGTGAAGGGAGGGAGGGAGGGAAGGAGGAAGAGAAGGCAGGAGGCGAGGCTGGGGAACTGGGGCTCCTCATTCCACACCTGGTCTTAGCAACCAGCAGCCCAGAGGATCCATCTCTGCCTCTTTGTGTCCAATTGGGTTCCTGGAAGCCAGAGATCATTCAGGGCAGGAATCTCTGCCATGGCCACCCCATCCTGTGCTTGCATACCCTCAGAGATGGGGAGCTCACTACCACTCCGCCCTGACCCAGGCTGCCTGTCCCATTGTTGGGCAGCTATGAGAAAAGCCCAACTCTCTGTAAGTCCTACCCACTGGTCTCACCCCGCCCTCATGAAGAATGTGAATCACATGATAATGACAACTGCCTGGAACTGCGTGAAGAGCTTTGACTGGCAACCAGGAGACTCTTGATACACGTTTATTGATAAATGAATAATCTTATTTAATCCCCTCAATAACTTGTGAGTTAAGTGTGACAGAGCAGTTAGGTAGGTGGGATGAGATTTGAATTCACATCTCTGTGACTCCAGGGTTTGAGCTCTTACCCACTGTGCCTCGTTGTAATGAAAATCACAGTAACAATGATGACATCTAACTTTGATGGGCACCTGGTATATGCCTGGTGTTGTTCTAAGGATTCTGCATGTATTTACTCATTTAATTCTCACACAATCCCACGAGGGAGAGGCTATTATTGTCCCCATTTTATTAATGACCATCTGGAGCCAGGTTTGCCCAAAGCCACCCAGCTGGTGACAGGCAGAGCTGGGATTCGATCCCAGGAGCCCCTGGCTCCTTAAACACCTCCCAGGCTGTCCCCATATGAC
Task1_train_28768
This mutation is located in gene KCTD17 (potassium channel tetramerization domain containing 17) on Chromosome 22. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Myoclonic dystonia 26
TGATCCTACCCTGGGGACTCTACCCCCATGATCTCATTACCTCCCCTCCTAATCCCATCACAGTTTTCAGCAGGTGGATTTTTGGGGAACACACACATTCTGCTCATAATGAGCTCTGTCCCCAGGGAGCCCAGAGGCCAGTCAAGGAAAGGGCCCAAAGGTCCCCTGCCTTCTGGGAGCCTAGGGGAGTCGAAACAGCTGCAAGCTCATCGCTTCACTGGTGGGCTGACTTCTTCATCTCCCAGATTAACTTAACTGTAAGATGGGGACAGTAATGCCTGCTCTCCTCATATCCCTGGACTTGTGATGAGCTCGTGCAGGGTGTTGCAAACTGTAAGGTGAGGCAGTTGGGGGAATGCATGGACACAAGGGTATGTGCTTACAGTGGGGAGACATGGGCTCTGGAGTCTGCAGCGCTTGAGTTCCCTCTGGCACTTACCAGCTGTGTGACCTTGGACAAGCTGCTTCTCTTTGGGAGCCTCAGTTTTCCCAGTTGTTCAATGCAGATGATGAAAGTACCTCCTTCTAGTTCTGAGAATTCAAAAATGTAATGCACCTGGCACTTAGAATGTGCTTAATAAATAGGAGCACATAATCAGGGGTCAGGCAAGGCCCTGCTCATGGTGACATTCTGGGGATCAGTCCCAATGACCCTGCTGTCTCTTGATAGCCCTAAAGCTGCCCCAGACGGTGGCCTGGCAGGTACCCCTGGGTCACCGCACTCAGCACAGCAGAGCTGTGTGGCAGCCCCTCAGCCCCTTCCACAGGAAGTGTGGGATCCAAGGAAAGAAATGCTCCCTCTTACTTGACCCCTGAACTCACAGACACTCAGCTCACCCTCAGGGCGGGTGATCAGAGCGAGAGGTGGGTTTCGGGGTGGAGGGAACAAGAGGAGAATGGGGCATGGAGGCAGAAGGAGTGACCTGGGATCTGTTCTGTCTGTGCCAGGGGTCCTGGAGGAAGCCGAGTTCTACAACATCGGCCCGCTGATCCGCATCATCAAAGACCGGATGGAAGAGAAGGACTACACGGTCACCCAGGTCGGGAGCAGGGGCAGCACACACGGCCAGGGCAGGGGCCAGTGGGGAGAGAGAGGCTGAGAGACGGGGCGGGAAGCAGAGGAGGTTGGGAGAGACAGGACCAGTGTTTGTCATGGGGAGGCCGAGCTGGCCTGTAAGGAGAGGCATGGTTGGGCTGACAGGCTGCCCAGCACAGCCCCAGACTCGGAGACGGACACTGGGGTTCAGTCCCTGTCTCAGCCCCATTTGCTGTGTGTTGGGCCAGGCTCGCCCTCTCCGGACCTTGATTTTCTCTTATGGGATAGAGAGGGGTGGGAATGGCACACCCATCCCTTCCTCATAGGCAGAAGGGGGTCAGTGTGGAGGTACAGGGTGCCCTGCAGAGGAAAATGCAGGATTAGCAAATTGTGCCTTTTGTGGCATCAGATGGTCGCCTGGTGGGCTCGGCACAGGCTGTTGGGGCTGGCGTTTGTGACCTTGGAGCCTGGGCCTCCCTGGCCAGTCTGCAGGAGGAGGGAAAGAGATTTTCCGCCTACTCTGGGGGATGTGTGAGGGTTGGGGGACAGGTAGTGAGGAACCATTTCTCAGGCCCAGGGGATTAAAGAGGGGAGGCTCCGTGTCTCCTTGAGGGCCTGACTCCTTGAGGGTGACCCAGAATGTTCCCTAAGCCCCACCCATGTTCTTTCTTGAATTACCCGTGTTCCGGTTCTGTCTCCTTCACCCTTGAGCTGGGTGACCTTGGGCAAGTAACTGGACCTCTCTGAGCCTCAATGGAAAGTCCCGTAATGCCTAGGATTCTTGGAAGGATTAAGTGAGATGGTGCCTGGTAAATGCCTGGTGAGGAGCAGGTGCTCAGAGCATGGCTGCCTCCCCCCAACCACCTCTTCTTTCTCTCCCTCTCTTCTTCTTTGGGTATGTTGCGGGGGTGGTGGCAGCAGGTGCTCATGCCCCTCCTGGGGTGCCTGGTGCTCCCACAGGTGCCCTCTATGTGACCCTTCTGCCCACAGGTCCCACCCAAGCACGTGTACCGCGTGCTGCAGTGCCAGGAGGAGGAGCTCACGCAAATGGTCTCCACCATGTCTGATGGCTGGCGCTTCGAGCAGGTGCGCTGGGGACAGGGGCGTGCCACCAGGACAACCCTGGGACCTCCTAGCCTCTGACCAAGCAGGCCCCTCCCTTCCTGCAGCCCCAGCCTTGGGTTCCCCACCACAGTCTCCCCCAACCCCAGGGTTCTTCTGAAATCAAATTAAACAAGGTTAGGAGAGACCACACTTGGTGGCAGGTTGACCGAGAGAGAGGATAGGAGCCCCAGTGGCCATAGGACAGCACGGGGTGTCCTTGTTGGTGGGAGTCCTCACAGCAACTGGGTGGTGATCTATCTGGTGGCATGAGTGAGTCTGTGGCCCCCGAAGGACAGCTCAGGTGCAAGGAGACCAGATCCACATAGGTGAGTGGAGTCCACATTGAGTCAGTACCTCTTAGAACTCAGAGTCAGCATCATGCGATCATAGCAGTTCCTGACACAGTTTTCAGGGTCTCCGCAGGGGACATGCCCAGTGGCCAGCATTGCAACATGCAGGGGAGCCCAAAGCAGTGCCTTCCCATGAGGTCTTTATGGTGAACGGTGGTTCCTCCCAGTCCAGATGCAGTTTACCCATCGGGAGATCCTTATCCCGAGGGACTTTATCCCTAGTCATGCAGCTGACCTCCCACCTTTCAGGTTTCCAGAGGAGCAGAGCCAGAAAGTGAGCCCAGGGTCAAAAGTGCCTTTAGAGAAGGAGAGGGGGTTGGCTAGCCTTTCTCCACGCCCACCCACACGTTCCCTGGCACATGGAGACTGCAAGGCAGAAGGTCGGAGCCCCCAGGATGGCCTGGAGGGATGGAAGAATGGGCCTAGTGCAGAGCCAGAGGCCTGGCTTCACCTCTAGGCCTTGCCACAGACATGCCTGCCACCTTGGGCAAGTTACATCTCCTGTGCGGGACCCAGTTCCCTCATCGGTGAAGTGGGCTAACAGTACCTCCTCTGTAGGACTCTTGTGAGATTAGAAGGGCCATCAGTAAAGCTTACAGCCCTCCGTAGGACTCCCTATGTTGGCATTAGTGTCATGCAAATCATTAGAAATCCATATTGAAGTCTGCAACACTCAGAGAGGACTTGGGATCCCCGATGCCATTCCCTGCTCCACCCCTTCCTAGCTGTGAGGCCTTCAGCAGGCCTGAGATTCTCTTCAGGGTCCCTGAGAGCTGAATGAGACTCATCACCTGGAAGAACTTTCTTATTTCTTAGCCAGAAGGGCTCTGTGGGCGTGGTTATTCTAGGGACCCTGGAACAAGGGCAGGGCCACTCTGAGAGCCTCTGGGTGTCTTTGGCAATTGCACAGGCTCTCAGAGGCTGAGCAAGCAGGCCAGGGACCATTGGTCATTTGCCCTTTGGTCTCAGGAGTGGACCACCTGTCGTCCCACCTCTGCTTCCAGGAGTGAAGGGAATATTCTGTGGGGCTCCACCTTGCCAATGCCACCCTGCAACCTTGTCCTGGGGCTGTGTCAGCCACATCTGGAATGGGGGACAGCCGCCCTTTAGAGGCCTCCGCCTGCATTTAGAAAAGGGCCCCCTGGCTCTGGGGCTAGGCTGGAGGTGGTGGTGGGGACAGCGGTAATGCTGCCACCCTCCACCAGGGATCGGGCCAGCCAAGCCAGGCGGAGGGGCTGGTCCTGGGGCACAGACCACAGGCACAGGTTGCAAGGGGGAAGACTCCACCTTCCTGCCCAGAGGTGCCCTCTACAAACCCAGGAGTGGGCCCGACAAGCCGCAAGATTAGGACCTGAGCTGGTATCTTGATTTGAGTGCCGAGGTCTGTCGTATCCTGCCCCACGGCCCCCAACACCAACCTGCATTTTTCTCCCCATGCTCCGCCCCTCTAGCTGGTGAACATCGGCTCCTCCTACAACTACGGCAGCGAGGACCAGGCAGAGTTCCTGTGTGTGGTGTCCAAGGAGCTCCACAGCACCCCAAACGGGCTGAGCTCAGAGTCCAGCCGCAAAACCAAGGTGAGCCCACCCGCCTCAGCCTGTGTCCG
TGATCCTACCCTGGGGACTCTACCCCCATGATCTCATTACCTCCCCTCCTAATCCCATCACAGTTTTCAGCAGGTGGATTTTTGGGGAACACACACATTCTGCTCATAATGAGCTCTGTCCCCAGGGAGCCCAGAGGCCAGTCAAGGAAAGGGCCCAAAGGTCCCCTGCCTTCTGGGAGCCTAGGGGAGTCGAAACAGCTGCAAGCTCATCGCTTCACTGGTGGGCTGACTTCTTCATCTCCCAGATTAACTTAACTGTAAGATGGGGACAGTAATGCCTGCTCTCCTCATATCCCTGGACTTGTGATGAGCTCGTGCAGGGTGTTGCAAACTGTAAGGTGAGGCAGTTGGGGGAATGCATGGACACAAGGGTATGTGCTTACAGTGGGGAGACATGGGCTCTGGAGTCTGCAGCGCTTGAGTTCCCTCTGGCACTTACCAGCTGTGTGACCTTGGACAAGCTGCTTCTCTTTGGGAGCCTCAGTTTTCCCAGTTGTTCAATGCAGATGATGAAAGTACCTCCTTCTAGTTCTGAGAATTCAAAAATGTAATGCACCTGGCACTTAGAATGTGCTTAATAAATAGGAGCACATAATCAGGGGTCAGGCAAGGCCCTGCTCATGGTGACATTCTGGGGATCAGTCCCAATGACCCTGCTGTCTCTTGATAGCCCTAAAGCTGCCCCAGACGGTGGCCTGGCAGGTACCCCTGGGTCACCGCACTCAGCACAGCAGAGCTGTGTGGCAGCCCCTCAGCCCCTTCCACAGGAAGTGTGGGATCCAAGGAAAGAAATGCTCCCTCTTACTTGACCCCTGAACTCACAGACACTCAGCTCACCCTCAGGGCGGGTGATCAGAGCGAGAGGTGGGTTTCGGGGTGGAGGGAACAAGAGGAGAATGGGGCATGGAGGCAGAAGGAGTGACCTGGGATCTGTTCTGTCTGTGCCAGGGGTCCTGGAGGAAGCCGAGTTCTACAACATCGGCCCGCTGATCCGCATCATCAAAGACCGGATGGAAGAGAAGGACTACACGGTCACCCAGGTCGGGAGCAGGGGCAGCACACACGGCCAGGGCAGGGGCCAGTGGGGAGAGAGAGGCTGAGAGACGGGGCGGGAAGCAGAGGAGGTTGGGAGAGACAGGACCAGTGTTTGTCATGGGGAGGCCGAGCTGGCCTGTAAGGAGAGGCATGGTTGGGCTGACAGGCTGCCCAGCACAGCCCCAGACTCGGAGACGGACACTGGGGTTCAGTCCCTGTCTCAGCCCCATTTGCTGTGTGTTGGGCCAGGCTCGCCCTCTCCGGACCTTGATTTTCTCTTATGGGATAGAGAGGGGTGGGAATGGCACACCCATCCCTTCCTCATAGGCAGAAGGGGGTCAGTGTGGAGGTACAGGGTGCCCTGCAGAGGAAAATGCAGGATTAGCAAATTGTGCCTTTTGTGGCATCAGATGGTCGCCTGGTGGGCTCGGCACAGGCTGTTGGGGCTGGCGTTTGTGACCTTGGAGCCTGGGCCTCCCTGGCCAGTCTGCAGGAGGAGGGAAAGAGATTTTCCGCCTACTCTGGGGGATGTGTGAGGGTTGGGGGACAGGTAGTGAGGAACCATTTCTCAGGCCCAGGGGATTAAAGAGGGGAGGCTCCGTGTCTCCTTGAGGGCCTGACTCCTTGAGGGTGACCCAGAATGTTCCCTAAGCCCCACCCATGTTCTTTCTTGAATTACCCGTGTTCCGGTTCTGTCTCCTTCACCCTTGAGCTGGGTGACCTTGGGCAAGTAACTGGACCTCTCTGAGCCTCAATGGAAAGTCCCGTAATGCCTAGGATTCTTGGAAGGATTAAGTGAGATGGTGCCTGGTAAATGCCTGGTGAGGAGCAGGTGCTCAGAGCATGGCTGCCTCCCCCCAACCACCTCTTCTTTCTCTCCCTCTCTTCTTCTTTGGGTATGTTGCGGGGGTGGTGGCAGCAGGTGCTCATGCCCCTCCTGGGGTGCCTGGTGCTCCCACAGGTGCCCTCTATGTGACCCTTCTGCCCACAGGTCCCACCCAAGCACGTGTACCACGTGCTGCAGTGCCAGGAGGAGGAGCTCACGCAAATGGTCTCCACCATGTCTGATGGCTGGCGCTTCGAGCAGGTGCGCTGGGGACAGGGGCGTGCCACCAGGACAACCCTGGGACCTCCTAGCCTCTGACCAAGCAGGCCCCTCCCTTCCTGCAGCCCCAGCCTTGGGTTCCCCACCACAGTCTCCCCCAACCCCAGGGTTCTTCTGAAATCAAATTAAACAAGGTTAGGAGAGACCACACTTGGTGGCAGGTTGACCGAGAGAGAGGATAGGAGCCCCAGTGGCCATAGGACAGCACGGGGTGTCCTTGTTGGTGGGAGTCCTCACAGCAACTGGGTGGTGATCTATCTGGTGGCATGAGTGAGTCTGTGGCCCCCGAAGGACAGCTCAGGTGCAAGGAGACCAGATCCACATAGGTGAGTGGAGTCCACATTGAGTCAGTACCTCTTAGAACTCAGAGTCAGCATCATGCGATCATAGCAGTTCCTGACACAGTTTTCAGGGTCTCCGCAGGGGACATGCCCAGTGGCCAGCATTGCAACATGCAGGGGAGCCCAAAGCAGTGCCTTCCCATGAGGTCTTTATGGTGAACGGTGGTTCCTCCCAGTCCAGATGCAGTTTACCCATCGGGAGATCCTTATCCCGAGGGACTTTATCCCTAGTCATGCAGCTGACCTCCCACCTTTCAGGTTTCCAGAGGAGCAGAGCCAGAAAGTGAGCCCAGGGTCAAAAGTGCCTTTAGAGAAGGAGAGGGGGTTGGCTAGCCTTTCTCCACGCCCACCCACACGTTCCCTGGCACATGGAGACTGCAAGGCAGAAGGTCGGAGCCCCCAGGATGGCCTGGAGGGATGGAAGAATGGGCCTAGTGCAGAGCCAGAGGCCTGGCTTCACCTCTAGGCCTTGCCACAGACATGCCTGCCACCTTGGGCAAGTTACATCTCCTGTGCGGGACCCAGTTCCCTCATCGGTGAAGTGGGCTAACAGTACCTCCTCTGTAGGACTCTTGTGAGATTAGAAGGGCCATCAGTAAAGCTTACAGCCCTCCGTAGGACTCCCTATGTTGGCATTAGTGTCATGCAAATCATTAGAAATCCATATTGAAGTCTGCAACACTCAGAGAGGACTTGGGATCCCCGATGCCATTCCCTGCTCCACCCCTTCCTAGCTGTGAGGCCTTCAGCAGGCCTGAGATTCTCTTCAGGGTCCCTGAGAGCTGAATGAGACTCATCACCTGGAAGAACTTTCTTATTTCTTAGCCAGAAGGGCTCTGTGGGCGTGGTTATTCTAGGGACCCTGGAACAAGGGCAGGGCCACTCTGAGAGCCTCTGGGTGTCTTTGGCAATTGCACAGGCTCTCAGAGGCTGAGCAAGCAGGCCAGGGACCATTGGTCATTTGCCCTTTGGTCTCAGGAGTGGACCACCTGTCGTCCCACCTCTGCTTCCAGGAGTGAAGGGAATATTCTGTGGGGCTCCACCTTGCCAATGCCACCCTGCAACCTTGTCCTGGGGCTGTGTCAGCCACATCTGGAATGGGGGACAGCCGCCCTTTAGAGGCCTCCGCCTGCATTTAGAAAAGGGCCCCCTGGCTCTGGGGCTAGGCTGGAGGTGGTGGTGGGGACAGCGGTAATGCTGCCACCCTCCACCAGGGATCGGGCCAGCCAAGCCAGGCGGAGGGGCTGGTCCTGGGGCACAGACCACAGGCACAGGTTGCAAGGGGGAAGACTCCACCTTCCTGCCCAGAGGTGCCCTCTACAAACCCAGGAGTGGGCCCGACAAGCCGCAAGATTAGGACCTGAGCTGGTATCTTGATTTGAGTGCCGAGGTCTGTCGTATCCTGCCCCACGGCCCCCAACACCAACCTGCATTTTTCTCCCCATGCTCCGCCCCTCTAGCTGGTGAACATCGGCTCCTCCTACAACTACGGCAGCGAGGACCAGGCAGAGTTCCTGTGTGTGGTGTCCAAGGAGCTCCACAGCACCCCAAACGGGCTGAGCTCAGAGTCCAGCCGCAAAACCAAGGTGAGCCCACCCGCCTCAGCCTGTGTCCG
Task1_train_28769
The gene TMPRSS6 (transmembrane serine protease 6), on Chromosome 22, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Iron-refractory iron deficiency anemia
GGGCCAAACACCTACCTCCTCCAGGAAGCTTTTCATGTCTGACCTCCTCCCTGCCCTCCAATCTTCCTACAAGGCAGGAGAGTCACCCATCATATCCTCCTACTAACAGATGAGCCTTGGAAGGCAGGGCCTGCATCTCTGCTGTTTTATTCTCACTTCCTTACTGCACCTTGCCTATCGCTGGGTAGCCTGCAAGTGTTGGTCAGTTGGTCAGTTGGATGGGTAGATGGATGGATGGATAAATAGACCCAGACAGAAGACTGAGCAGACAAGCCAATGGGTGGAGTGGTGGTCCATTAGGGAGACTGACAGACAGCTAGAAGGTTGGATAAACGTGTGGATATAAGGACCAGTGGACAGACAGGGGGCTAGGGAGATCAGTGGATGGGTGGATGGATGGGTGGATGGATGGGTAGATGGATGGATGGATGATGGATGGGTGGATGATGGATGGATGATGGATGGATGATGGATGGATGGATGGATGGATGATGGATGGGTGCATGGATGGATGGATGGCTGACGGATGAATGGATGGATGGTGGATGGATGGATGATGGATGGTTGGATGGATGATGGATGGATGGATGATGGACAGATGATGGATGGACGGATGATGGATGGATGATGGATGGATGGATGATGGGTGAATGGATGGATGATGGATGAACGGATGATGGATGGATGGATGATGGATGAATGGATGGATGGATGATGGATGGATGGATGGATGATGGATGGATGGATGATGGATGGATGGATGATGGATGGTTGCATGGATGGATGGATGATGGATGGATGGATGATGGATGGATGGATGATGGATGAATGGATGGATGATGGATGGATGGATGGATGATGGATGGGTGCATGGATGGATGGATGATGGATCGATGGATGATGGATGGATGGATGATGGATTGATGGATTGATGGATGATGGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGATGGATGATGGATGGATAGACGATGGACAGATGGATGATGGATGAATGGATGGATGATGGATGAATGGATGGATGATGGATGGATGGATGGATGATGGATGGATGGATGATGGATGGATGGATGGATGATGGACGATGGATGGATGGATGATGGACGGATGGATGATGGATGGATGGATGATGGATGGATGGATGATGGATGGATGGGTGATGGACGGATGGATGATGGATGGATGATGGATGGATGGATGATGGACGGATGGATGGATGGATAGATGGATGATGGATGGATGGATGATGGACGGATGGATGATGGATGGATGGATGGATGATGGATGGATGGATAGACGGATGATGGATGGATGGATGGATGATGGATGGATGATGCATGGATGATGGATGGATGAATGGATGGATGGATAGATGGATGATGTATGGATGGATGATGGACAGATGGATGATCGATGGGTGGATGACGGATGGGTGGAAGGATGATGGATGGATAGATGGATGATGGATGGATGATGGATGGATGGATGGATGATGGACGGATGGACGATGGGTGGATGGATGGATGATGGATGGATGGATGGATGGATAGACGGATGATGGATGGATGGATGATGGACGGATGGATGATGGATGGGTGGATGGGTGGGTGGGTAGATGGGTGGGTGGATGGATGGATGGATGGATGGATGGATGGAACAGTGGCCATATAGACCAGTAGTCAGCCAAACCAATAAATGGGTAGATTGACAGTTTGATGATAGGGAGATTGATGGTTGCACAGGTCAGTAGATGCATAGATAAATGGGTAGCTGTATGAATCAATGGACAGACGGTGATTGGAGACCAGAAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGAATGGACAGACATACAGATGTAAATACAGAGGGGTTGGTGGGTGTTGAGAGGAGAAGCTAGAAACTTTTGCTGAAGCATGTAGCAGGCCTAGACTGCCTTTGGTGTCCCTCCAGACACTCGGCTAGGCCTGCCCTACCTTCCTGGCACTGCTCTTCGTCGCTGCCGTTGAGACAATCAGGCTGCCCATCACAGACCTTGGGCAGTGAGATGCATGTGCTGTCCTCTTTGCACTGGAATGTGGCTCTGCAAACTGTGTGGGGACACAGAGAGGGGACAGGTGGGAGGAAGCCAGAGGAGCCAGCCGGGGCTTGGCGATGCCTGTAGAAGGTGTGCTGTATTGCACGTTACCAATCACAAATCTCTTTCTCTGCTACTTTATTTTTATGTCTCGCTCTTGTCACGAAGGCTGGAGTGCGATGGCATGATCTCACTGCAACCTCCCAGGTCCAAGCGATTCTCCTGCCTCAGACTCCCGAGTAGCTGAGATTAATTACAGGCTCCTGCTACCACGCCCAGCTAATTATTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCTCGACTCCGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACTGCGCCCGGCCTCTTTCTCTGCTATTTTACACCCAAAGTTTCACAGCAACCCTGTGAGATACCCCATTTCACTGGTGGAAACAGATGAGGTGACTTGTCCAAGGTCACTTGGCTGAGCCAGAACTTGAAGCCAGATGTTCAGTTTCTGAATATGAGGTACCTCCCCCAGCACCGTGGCAGGATCATCCCCCCACCATGAACATCTCGCTTCCCTCTTCCCACATATTTAAACCTTTGACAGGGCAGAGGAGGGGGACATCTCCCTCACCCATTCTGTTCCTTCCTGGAAGGCTGGCTGGGACAGGGGCTGGGGGTGATGGCCCTGAGCTGGAAGTCAGGAGACCTGGCTCCCCACTTCTCCCTGCCACTGTCCCACGAGGTGGTCTCGGGGAGGCTGCATTGCTGGTCTGTCTCATTTTGCCACCCCGGCACAGTGAGAGAACCCCACTTCCTGGGTGCTCATAATGGAAGCTGCATGTAGAAGTGGGGTCTCCACTCAGCTCAGAGCAGGAAAGGTGAGGAAGGAGAAGGGATGGGCAGGGAGAGGAGGGATGCGCGGGCGGGTTACTCACCGCAGTTTCTCTCATCCAGGCCGTTGGGGCAGTCCTTGACCCCATCACAGGCAGGGACACAGAGTCCATTCACAGAACAGAGGAACTCTCCAGGGCAGGCTGCAAAACCACAGGGGACCGTGGAGGCAGGCAGGGCGCCATTAGGCCATGCGTAGCCGCGAAGGCGCACAAAGACACGCATGCACCTGTTCACTCACACGCGCATGGACAGGCACCCACAGACGTGGTCCTGGGCACCTGTGTACACAGTCCAAGCAGACATACATATCCAGACACACACACAGAATACACAACACACACGTGGATATGTATGAGTGTGTATTCCTGCAAACCCTTGTGGCTGCCTTGCACACGTGGGCACACAAAGCTGCATAAATTTGTGCAAGCACATACACACACACACACACTCTCTCTCTCCTTTTGTTCAGCCTCATAAGCAGCTGCCCACAGCCCCCTTGGTGGTTCCAGGGATGGCCAAGAGGCAGCGAGTCACTGCAGGGGGTTCCCCCGGCTGCCCATACTCACGGTCCGACTGGTTGTACAAGCCATAGTGCACCCGCACACCGGGCCCGGTGAGGGAGATCTGGGAGGTGAAGTTGATGGTGATCCCGGCCGTGGCCACCACGGGGATCCTCTCGGCGTAGGGCTGCAGGATGCGCAAGCCACACAGCCTGGGGGGAGTCAGAGACGACTCAGGGCTGCACTGGCTGGTCTCCTGGGTCCCGTGCACAGACAGAGCAAGGACAGGCAGCCAGAGGGGCAGGGGGAGCTGCACGCCCGCTGTGCCTCCTCTGCCCTGATTTCTCCCTTAGATGAGTGCACCCCCAGAGTCATCTTCTAGAAACTAGCCTGGCTATGCCACTGCCCTGCTCAAAAATCTTCAATGGCTCCCCATTGCCTGCCAGATAAAAAACTCAATTCTAGTCACAGTCACCTGTGAACTGTGAGGTTCTAGCAAGTCAGGGTCCTTCTTTGAGCCTCACCTTCC
GGGCCAAACACCTACCTCCTCCAGGAAGCTTTTCATGTCTGACCTCCTCCCTGCCCTCCAATCTTCCTACAAGGCAGGAGAGTCACCCATCATATCCTCCTACTAACAGATGAGCCTTGGAAGGCAGGGCCTGCATCTCTGCTGTTTTATTCTCACTTCCTTACTGCACCTTGCCTATCGCTGGGTAGCCTGCAAGTGTTGGTCAGTTGGTCAGTTGGATGGGTAGATGGATGGATGGATAAATAGACCCAGACAGAAGACTGAGCAGACAAGCCAATGGGTGGAGTGGTGGTCCATTAGGGAGACTGACAGACAGCTAGAAGGTTGGATAAACGTGTGGATATAAGGACCAGTGGACAGACAGGGGGCTAGGGAGATCAGTGGATGGGTGGATGGATGGGTGGATGGATGGGTAGATGGATGGATGGATGATGGATGGGTGGATGATGGATGGATGATGGATGGATGATGGATGGATGGATGGATGGATGATGGATGGGTGCATGGATGGATGGATGGCTGACGGATGAATGGATGGATGGTGGATGGATGGATGATGGATGGTTGGATGGATGATGGATGGATGGATGATGGACAGATGATGGATGGACGGATGATGGATGGATGATGGATGGATGGATGATGGGTGAATGGATGGATGATGGATGAACGGATGATGGATGGATGGATGATGGATGAATGGATGGATGGATGATGGATGGATGGATGGATGATGGATGGATGGATGATGGATGGATGGATGATGGATGGTTGCATGGATGGATGGATGATGGATGGATGGATGATGGATGGATGGATGATGGATGAATGGATGGATGATGGATGGATGGATGGATGATGGATGGGTGCATGGATGGATGGATGATGGATCGATGGATGATGGATGGATGGATGATGGATTGATGGATTGATGGATGATGGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGATGGATGATGGATGGATAGACGATGGACAGATGGATGATGGATGAATGGATGGATGATGGATGAATGGATGGATGATGGATGGATGGATGGATGATGGATGGATGGATGATGGATGGATGGATGGATGATGGACGATGGATGGATGGATGATGGACGGATGGATGATGGATGGATGGATGATGGATGGATGGATGATGGATGGATGGGTGATGGACGGATGGATGATGGATGGATGATGGATGGATGGATGATGGACGGATGGATGGATGGATAGATGGATGATGGATGGATGGATGATGGACGGATGGATGATGGATGGATGGATGGATGATGGATGGATGGATAGACGGATGATGGATGGATGGATGGATGATGGATGGATGATGCATGGATGATGGATGGATGAATGGATGGATGGATAGATGGATGATGTATGGATGGATGATGGACAGATGGATGATCGATGGGTGGATGACGGATGGGTGGAAGGATGATGGATGGATAGATGGATGATGGATGGATGATGGATGGATGGATGGATGATGGACGGATGGACGATGGGTGGATGGATGGATGATGGATGGATGGATGGATGGATAGACGGATGATGGATGGATGGATGATGGACGGATGGATGATGGATGGGTGGATGGGTGGGTGGGTAGATGGGTGGGTGGATGGATGGATGGATGGATGGATGGATGGAACAGTGGCCATATAGACCAGTAGTCAGCCAAACCAATAAATGGGTAGATTGACAGTTTGATGATAGGGAGATTGATGGTTGCACAGGTCAGTAGATGCATAGATAAATGGGTAGCTGTATGAATCAATGGACAGACGGTGATTGGAGACCAGAAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGAATGGACAGACATACAGATGTAAATACAGAGGGGTTGGTGGGTGTTGAGAGGAGAAGCTAGAAACTTTTGCTGAAGCATGTAGCAGGCCTAGACTGCCTTTGGTGTCCCTCCAGACACTCGGCTAGGCCTGCCCTACCTTCCTGGCACTGCTCTTTGTCGCTGCCGTTGAGACAATCAGGCTGCCCATCACAGACCTTGGGCAGTGAGATGCATGTGCTGTCCTCTTTGCACTGGAATGTGGCTCTGCAAACTGTGTGGGGACACAGAGAGGGGACAGGTGGGAGGAAGCCAGAGGAGCCAGCCGGGGCTTGGCGATGCCTGTAGAAGGTGTGCTGTATTGCACGTTACCAATCACAAATCTCTTTCTCTGCTACTTTATTTTTATGTCTCGCTCTTGTCACGAAGGCTGGAGTGCGATGGCATGATCTCACTGCAACCTCCCAGGTCCAAGCGATTCTCCTGCCTCAGACTCCCGAGTAGCTGAGATTAATTACAGGCTCCTGCTACCACGCCCAGCTAATTATTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCTCGACTCCGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACTGCGCCCGGCCTCTTTCTCTGCTATTTTACACCCAAAGTTTCACAGCAACCCTGTGAGATACCCCATTTCACTGGTGGAAACAGATGAGGTGACTTGTCCAAGGTCACTTGGCTGAGCCAGAACTTGAAGCCAGATGTTCAGTTTCTGAATATGAGGTACCTCCCCCAGCACCGTGGCAGGATCATCCCCCCACCATGAACATCTCGCTTCCCTCTTCCCACATATTTAAACCTTTGACAGGGCAGAGGAGGGGGACATCTCCCTCACCCATTCTGTTCCTTCCTGGAAGGCTGGCTGGGACAGGGGCTGGGGGTGATGGCCCTGAGCTGGAAGTCAGGAGACCTGGCTCCCCACTTCTCCCTGCCACTGTCCCACGAGGTGGTCTCGGGGAGGCTGCATTGCTGGTCTGTCTCATTTTGCCACCCCGGCACAGTGAGAGAACCCCACTTCCTGGGTGCTCATAATGGAAGCTGCATGTAGAAGTGGGGTCTCCACTCAGCTCAGAGCAGGAAAGGTGAGGAAGGAGAAGGGATGGGCAGGGAGAGGAGGGATGCGCGGGCGGGTTACTCACCGCAGTTTCTCTCATCCAGGCCGTTGGGGCAGTCCTTGACCCCATCACAGGCAGGGACACAGAGTCCATTCACAGAACAGAGGAACTCTCCAGGGCAGGCTGCAAAACCACAGGGGACCGTGGAGGCAGGCAGGGCGCCATTAGGCCATGCGTAGCCGCGAAGGCGCACAAAGACACGCATGCACCTGTTCACTCACACGCGCATGGACAGGCACCCACAGACGTGGTCCTGGGCACCTGTGTACACAGTCCAAGCAGACATACATATCCAGACACACACACAGAATACACAACACACACGTGGATATGTATGAGTGTGTATTCCTGCAAACCCTTGTGGCTGCCTTGCACACGTGGGCACACAAAGCTGCATAAATTTGTGCAAGCACATACACACACACACACACTCTCTCTCTCCTTTTGTTCAGCCTCATAAGCAGCTGCCCACAGCCCCCTTGGTGGTTCCAGGGATGGCCAAGAGGCAGCGAGTCACTGCAGGGGGTTCCCCCGGCTGCCCATACTCACGGTCCGACTGGTTGTACAAGCCATAGTGCACCCGCACACCGGGCCCGGTGAGGGAGATCTGGGAGGTGAAGTTGATGGTGATCCCGGCCGTGGCCACCACGGGGATCCTCTCGGCGTAGGGCTGCAGGATGCGCAAGCCACACAGCCTGGGGGGAGTCAGAGACGACTCAGGGCTGCACTGGCTGGTCTCCTGGGTCCCGTGCACAGACAGAGCAAGGACAGGCAGCCAGAGGGGCAGGGGGAGCTGCACGCCCGCTGTGCCTCCTCTGCCCTGATTTCTCCCTTAGATGAGTGCACCCCCAGAGTCATCTTCTAGAAACTAGCCTGGCTATGCCACTGCCCTGCTCAAAAATCTTCAATGGCTCCCCATTGCCTGCCAGATAAAAAACTCAATTCTAGTCACAGTCACCTGTGAACTGTGAGGTTCTAGCAAGTCAGGGTCCTTCTTTGAGCCTCACCTTCC
Task1_train_28770
A variant was discovered on Chromosome 22, affecting TMPRSS6 (transmembrane serine protease 6). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Iron-refractory iron deficiency anemia
TGCCCCTCCAACATCGCCTCGCCTGATGGTGTCAGGCCCTTGATCAGCCATCACAGTCATTGTCTGGTGCAAACCTATCACACCCATGTTTCCATTCTACAGATGAGCCCAGTGAAGGGAGGGTGACATGCAGGAAGCCAAGTTCCCTCTCTATGCCTTAGTTTCCCCATTTGAAACATGAAGGCATTGCATCAGAAGCCTACAGAGGCCCCTCCCATTCTTTGAATCTCAGCTTCTTGCAGGAGCTGGTCAGGGGCAAGGACAACTCACCCAAAGGAATAGACGGAGCTGGAGTTGTAGTAAGTTCCCAGGCGGGTGCTGGTGATGAGCTCCTTGAGCTGTGAGAAGGGAAGACAACAGCCCCTGGGACCCTCTGCAGGGCAGACAGGCCCACTTCCTACCTGGAGGTGCCCTTTGCTCCTACTGGCAGCCCCGCTCCATGCATGATTCTCCAAGGTGGACAGGCTTGATCACGGTCACACAGTGCTGAGTGGCCGGGCCGGGGCATGCATGAATCTCACACCCCATCCCCTTCTTTCTGTTTCCACTACACCCGACTCTCACCTCCACCTGCACTGCTGATGACCCCTCTGCCCCTTGCCAAAAGTCACTCCTCAACTCTGAGAAACCCCACTCGGCTCCTGGGTCCCCTCTGCACCTCCTCCCATGGCCTGGGACAAGCCAGCAGCTCTGATGGGTAGTTTTTGCGCATCTCCAACTACAGCGCTGCTGGCAGGATTACAGGCTCTTAAGCATTTGCGCAGCGTGGGAATAGTGTTCGTGTTATCTCAACTTCACTGCAACCCACAACAAATCTGCAGCCGGGTCCTGTTGTTATCACCCCTACCTCATGGAGGAGGAAACGGGCAGCCTCAGGCTGGGTCCCTCAGAAGCAGACCCTCCATTGACAAGGTGGGGCAAGTGGTTTATTTGGAGGTGATTCTGGGAAACAGTAGTTGGGAGGGAGAGACTGGAAAGTGGGCAACCAACACAGGGCCATGAATGCGCAGTGTAGAGCTGAGAGCATCTGAGCTCAGCCGAATAGGGCATCTCTGGGAGACAGCCTGGAACATTCTGTGAACTATTCCCCCTGCCAGGGCCAAAGAAGCTGCGGTATTGATCCACCCACTCCAGCGCTCATGGTTCAGGGTTGCTCCTGGGAATAACTCCCCGGCACTTCTGGCCTGCCTTGCTGGGCAGTGGTCCTGCAGCCTGAGAGTGGCAGGCAGTAGACCAGCCTCCGTGCAGTGAGCCACCATCCTGTAACAGAGGGGCAGGAGTGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGGCCACCGTCTTGTAACAGAGGGGCAGGAGCGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGCCACTGTCCTGTAACGGAGGGGCAGGAGTGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGCCACCGTCCTGTAACGGAGGGGGAAGAGCGGGCCACCGTCCTGTAACGGAGGGGGAGGAGAGGGCCACCGTCCTGTTACGGAGGGGGAGGAGAGGGCCACCGTCCTGTAACGGAGGGGGAGGAGAGGGCCACCGTCCTGTAACGGAGGGGGAGGAGCGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGCCACCGTCCTGTAACGGAGGGGGAGGAGCGGGCCACCGTCCTGTAACGGAGGGGGAGGAGCGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGGCCCTCAATAGTGTCAGCTGCACTGTGGGACCTTTCCCAAGGTCATGCTCCACCCCTGGTAAGAGGCATGATCAGGATCTAATCCGAGTGCTATTGACCCAAACATCCACTAACTTTCCCATGACCCTCAACCTCATCTGCTTCCATGGTGCCTGGAGCAGGGCTGTGGTCCCTGTGAATGCTCCAGATGGGTTGACCAACTGGCTCCATGTGATCAGACCCCACCCCTCTCTTTTCACCCCCATATTCCCTCCCTCTCATCCCCCAGATCCTTTCCTACCATCTTCTGGGCTTTGGCGGTTTCACTGCGGAAGGCACTAGATTCCCGGCGGGTAAGATCCTGGGAGAAGTGGCGATTGAGTACACGCAGACTGCCTGAGTACACCTGGCTGACCATCACCTCCGCCTTGTACCCTGCCCAGGAAGGAACCAGCAGGGTTAGTGGAGGAAGCAGGTGGGAAAGTCTCCTGTCTCTTCCATGCCTTCTCCTGCCACCCACACCCTCAGCTCAGCCTCAGTGTCTTGGGTCTCCATGGCACCATCAATGTCATCATCATCATCTTTGTCACTCCCATTGTCATCATGGTCATCTAAAGTTTATTGGATGACAAACTGGCTGCAAGGTACCAGGGAGGTGAAAGGCTCCCAGATGGATGGTGTCCTACAGGTTCCCAGGGAGAGGCTGACACAGTGACCAGTCCAGGACACCAATGACATGAAGGCCAGGAAATCCACATAGGCCCAGGAGGCCAAGGTCATGGGTCAGCACCACTAGGCATCCTTCCACTCGTGAGGTCACCCAGGGATCCCACAGTGTGTGCTAACCACCTACTACATGGGGTACGCCAGTTAACCAAGACAGATGTGCCTCCCCTTGTGAAGCTGACAGTGGTGGGTAAGAAAGGCGTGGCTCTGGCAACCACACAGCATGTGGCATCTGTCTGTGGGCAGTGCCATCAGGGAGCAGTGCCACATGGTGCTGTTGAGGGGATGTGACGAGGACACTCAGCCTGGGCCAGAGTGGAGTGACCCTCCAGCTGAGATGTAGGGATGGGGAAACTGTAAATTGGTAAGAGAAGAGGGAGGGAAGTACCTTCCAGCAGAGGGAGCAGCATGGGGCACGGGGCCGGTAGCACGGGGACCATGGTGAGGACCCGGGCTGAAAGCCTGTTTGGCTGGAGCAGTCAGAGATGGGGAGGGGCGGCAAGGAGCTGGGGCCTCCGCAGGGCAGGGCCCATTGGGTCTTTACCCGATGAACAAGGGTAACCATGAAAAGTTTAAAATCAGGAATGATGTCATCAGACTTCTGTTTTGCAAAGGCTATTTTGGCTGAAGTGAAGAGGGTAGACTCACAGCCCTGGTTTACACCCCTATCCATTTACTCAGTAAATACCTCTTGAGAGCCTGCTATGTGTAGGAACTGAGCCAAAGTACTTGGGACTATATGAGCAAAACAACGGACAGAACTATCAAGAAAAAACTGCCCTTAATAGCTTGTAGACTAGCAAGGAATCAGACGGTAAACCACACATCGTGTATAACAGGTTAGAGGTGGTCAGTGCGGTGGGAATCAGGGCATGGGACGGGCTGCGATATGGAGGTCAGGGAAGAAGGTGATGTACATCTGTGGAAAGAATGTCCCAGGCAGGGGCAAGTGCAAAGGCCTGGTGTGTTTCAGGAGCAGCAAAGAGTGAGCAACAGGACAGCAGGAGGGTATGAGATGGGGAAGGGGAGAGGCTGGGTAGGGCTTTCCAGGCCTGGGAGGACTCGGGCTTTCACCCTGGGTAAGATGGGAGGAATGGGAGGTGGTTTTTTTGTTTTCTTTTTGTTTTTGTTTTGTTTTGTTTTTGAGACAGAGTTTCGCTCTTGTTGCCTAGCTTGGAGTGCAATGGCTCAATCTCCGCTCACCACAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCGCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCGGTTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTGCATATTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCATCTGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACGCGCCTGGCCCCAAGCGAGGTTTTAAGCAGCGAAGTTAGAGGATTTCGTTTGCTTTATCAAATGGTCCCTCTGCTGTTGAGAAAGGCTCTAAGGAGGCAGGGCAGAGGCAGGGAGAGCATCGAGGACACGCCTGCAGGGCTCCAGGGGAGAGATGTCCAGGGGGACAGAGCCTGGCCCCAGCTGTGGCAGAGGAGAGGGTGGGAAGTGATTGGCGTCA
TGCCCCTCCAACATCGCCTCGCCTGATGGTGTCAGGCCCTTGATCAGCCATCACAGTCATTGTCTGGTGCAAACCTATCACACCCATGTTTCCATTCTACAGATGAGCCCAGTGAAGGGAGGGTGACATGCAGGAAGCCAAGTTCCCTCTCTATGCCTTAGTTTCCCCATTTGAAACATGAAGGCATTGCATCAGAAGCCTACAGAGGCCCCTCCCATTCTTTGAATCTCAGCTTCTTGCAGGAGCTGGTCAGGGGCAAGGACAACTCACCCAAAGGAATAGACGGAGCTGGAGTTGTAGTAAGTTCCCAGGCGGGTGCTGGTGATGAGCTCCTTGAGCTGTGAGAAGGGAAGACAACAGCCCCTGGGACCCTCTGCAGGGCAGACAGGCCCACTTCCTACCTGGAGGTGCCCTTTGCTCCTACTGGCAGCCCCGCTCCATGCATGATTCTCCAAGGTGGACAGGCTTGATCACGGTCACACAGTGCTGAGTGGCCGGGCCGGGGCATGCATGAATCTCACACCCCATCCCCTTCTTTCTGTTTCCACTACACCCGACTCTCACCTCCACCTGCACTGCTGATGACCCCTCTGCCCCTTGCCAAAAGTCACTCCTCAACTCTGAGAAACCCCACTCGGCTCCTGGGTCCCCTCTGCACCTCCTCCCATGGCCTGGGACAAGCCAGCAGCTCTGATGGGTAGTTTTTGCGCATCTCCAACTACAGCGCTGCTGGCAGGATTACAGGCTCTTAAGCATTTGCGCAGCGTGGGAATAGTGTTCGTGTTATCTCAACTTCACTGCAACCCACAACAAATCTGCAGCCGGGTCCTGTTGTTATCACCCCTACCTCATGGAGGAGGAAACGGGCAGCCTCAGGCTGGGTCCCTCAGAAGCAGACCCTCCATTGACAAGGTGGGGCAAGTGGTTTATTTGGAGGTGATTCTGGGAAACAGTAGTTGGGAGGGAGAGACTGGAAAGTGGGCAACCAACACAGGGCCATGAATGCGCAGTGTAGAGCTGAGAGCATCTGAGCTCAGCCGAATAGGGCATCTCTGGGAGACAGCCTGGAACATTCTGTGAACTATTCCCCCTGCCAGGGCCAAAGAAGCTGCGGTATTGATCCACCCACTCCAGCGCTCATGGTTCAGGGTTGCTCCTGGGAATAACTCCCCGGCACTTCTGGCCTGCCTTGCTGGGCAGTGGTCCTGCAGCCTGAGAGTGGCAGGCAGTAGACCAGCCTCCGTGCAGTGAGCCACCATCCTGTAACAGAGGGGCAGGAGTGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGGCCACCGTCTTGTAACAGAGGGGCAGGAGCGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGCCACTGTCCTGTAACGGAGGGGCAGGAGTGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGCCACCGTCCTGTAACGGAGGGGGAAGAGCGGGCCACCGTCCTGTAACGGAGGGGGAGGAGAGGGCCACCGTCCTGTTACGGAGGGGGAGGAGAGGGCCACCGTCCTGTAACGGAGGGGGAGGAGAGGGCCACCGTCCTGTAACGGAGGGGGAGGAGCGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGCCACCGTCCTGTAACGGAGGGGGAGGAGCGGGCCACCGTCCTGTAACGGAGGGGGAGGAGCGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGGCCCTCAATAGTGTCAGCTGCACTGTGGGACCTTTCCCAAGGTCATGCTCCACCCCTGGTAAGAGGCATGATCAGGATCTAATCCGAGTGCTATTGACCCAAACATCCACTAACTTTCCCATGACCCTCAACCTCATCTGCTTCCATGGTGCCTGGAGCAGGGCTGTGGTCCCTGTGAATGCTCCAGATGGGTTGACCAACTGGCTCCATGTGATCAGACCCCACCCCTCTCTTTTCACCCCCATATTCCCTCCCTCTCATCCCCCAGATCCTTTCCTACCATCTTCTGGTCTTTGGCGGTTTCACTGCGGAAGGCACTAGATTCCCGGCGGGTAAGATCCTGGGAGAAGTGGCGATTGAGTACACGCAGACTGCCTGAGTACACCTGGCTGACCATCACCTCCGCCTTGTACCCTGCCCAGGAAGGAACCAGCAGGGTTAGTGGAGGAAGCAGGTGGGAAAGTCTCCTGTCTCTTCCATGCCTTCTCCTGCCACCCACACCCTCAGCTCAGCCTCAGTGTCTTGGGTCTCCATGGCACCATCAATGTCATCATCATCATCTTTGTCACTCCCATTGTCATCATGGTCATCTAAAGTTTATTGGATGACAAACTGGCTGCAAGGTACCAGGGAGGTGAAAGGCTCCCAGATGGATGGTGTCCTACAGGTTCCCAGGGAGAGGCTGACACAGTGACCAGTCCAGGACACCAATGACATGAAGGCCAGGAAATCCACATAGGCCCAGGAGGCCAAGGTCATGGGTCAGCACCACTAGGCATCCTTCCACTCGTGAGGTCACCCAGGGATCCCACAGTGTGTGCTAACCACCTACTACATGGGGTACGCCAGTTAACCAAGACAGATGTGCCTCCCCTTGTGAAGCTGACAGTGGTGGGTAAGAAAGGCGTGGCTCTGGCAACCACACAGCATGTGGCATCTGTCTGTGGGCAGTGCCATCAGGGAGCAGTGCCACATGGTGCTGTTGAGGGGATGTGACGAGGACACTCAGCCTGGGCCAGAGTGGAGTGACCCTCCAGCTGAGATGTAGGGATGGGGAAACTGTAAATTGGTAAGAGAAGAGGGAGGGAAGTACCTTCCAGCAGAGGGAGCAGCATGGGGCACGGGGCCGGTAGCACGGGGACCATGGTGAGGACCCGGGCTGAAAGCCTGTTTGGCTGGAGCAGTCAGAGATGGGGAGGGGCGGCAAGGAGCTGGGGCCTCCGCAGGGCAGGGCCCATTGGGTCTTTACCCGATGAACAAGGGTAACCATGAAAAGTTTAAAATCAGGAATGATGTCATCAGACTTCTGTTTTGCAAAGGCTATTTTGGCTGAAGTGAAGAGGGTAGACTCACAGCCCTGGTTTACACCCCTATCCATTTACTCAGTAAATACCTCTTGAGAGCCTGCTATGTGTAGGAACTGAGCCAAAGTACTTGGGACTATATGAGCAAAACAACGGACAGAACTATCAAGAAAAAACTGCCCTTAATAGCTTGTAGACTAGCAAGGAATCAGACGGTAAACCACACATCGTGTATAACAGGTTAGAGGTGGTCAGTGCGGTGGGAATCAGGGCATGGGACGGGCTGCGATATGGAGGTCAGGGAAGAAGGTGATGTACATCTGTGGAAAGAATGTCCCAGGCAGGGGCAAGTGCAAAGGCCTGGTGTGTTTCAGGAGCAGCAAAGAGTGAGCAACAGGACAGCAGGAGGGTATGAGATGGGGAAGGGGAGAGGCTGGGTAGGGCTTTCCAGGCCTGGGAGGACTCGGGCTTTCACCCTGGGTAAGATGGGAGGAATGGGAGGTGGTTTTTTTGTTTTCTTTTTGTTTTTGTTTTGTTTTGTTTTTGAGACAGAGTTTCGCTCTTGTTGCCTAGCTTGGAGTGCAATGGCTCAATCTCCGCTCACCACAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCGCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCGGTTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTGCATATTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCATCTGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACGCGCCTGGCCCCAAGCGAGGTTTTAAGCAGCGAAGTTAGAGGATTTCGTTTGCTTTATCAAATGGTCCCTCTGCTGTTGAGAAAGGCTCTAAGGAGGCAGGGCAGAGGCAGGGAGAGCATCGAGGACACGCCTGCAGGGCTCCAGGGGAGAGATGTCCAGGGGGACAGAGCCTGGCCCCAGCTGTGGCAGAGGAGAGGGTGGGAAGTGATTGGCGTCA
Task1_train_28771
Gene IL2RB (interleukin 2 receptor subunit beta), found on Chromosome 22, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Immunodeficiency 63 with lymphoproliferation and autoimmunity
ACTTGGGCACAGGCACTGTCACTATTTCCATTCTACAGCTGAGGAGACTGAAGCACAGAGAGCCTTAGGGACTTGCCTGAGGTCACACAGCTAAGAAATGGTGGAGCCAGGATCAGAAACCAGGCCACCTACAGAGCTCCCTGCAAGGGGAACAGCATCCGGTTCCAGAGGCTGTGATTTTATCAGCTACACTGTGTGACTCCATCTTCACACTCTCCTGCCCCTCAAGAAGACATATAACCTGATGGAAGATGTGGTCCGGGTGTCCTTGGAGCCCGCTGCCGCCCAGGAGGCTTTGACAGACAATAATTTGATGTACACTCATATGGACATGGCCATATGCCCTGCAAGAGGCAGCCTAATGCAACGGTGAGAAGCCTGAACTGGGAGCCCGCAGGCCTGGGTTCAATCCCAGCTGTGTACTTCCTGGCTGTGTGACCTTGGGCAGAGACCATACCTCTCTGAGCCTCAGTGTCTTCATTGGTAAGAAGGGGACAGTGCTGATGTTGACCCATGGGGCTGTAGGTGAAGGCCGCAGCTGCCCATCCGGAGTGGCCGCTGCTAAAACTCTGGCTGCAGCCGGGAGGCGTAGCTGGGGTCTCCTGCTCCACGGAGCAGGTAGGAGCCCTGCCCTCCCAGGCAGGGCTGCAGCTGCCTAAGTCTTGGCTGTGGACCCAGGCCTCCTGGTGCTGTTGGGGGCTGGGATCAGGCAAGAGCCCCGCTCTCCTGGGCGCAGCTGCAGCCACCCAAGTCGTGGCCACAGAGCCAGGTGTCCCTGCACTCTCAGGGGCCCTGGTCCAAACCCAAGCCTCCAGGTGATCTTGCAAGCAGGGAGCACGCAGGAGACCCACCCTCCCGGGCACAGCTGCAGCTACCCAAGTTGTGGCTGTGGACCCAGGCATCCCTGCACTCTCAGGGTCTGGGAAGATCCCCCCTTGCCTCCGCAGGCTCAGAGCTGTCTGTTCCCACTGCTTGGCCTCTCCCCTGCTTCTGGCACCCGATCTGATCCTGGAGGCACAGTCGGGGCTACGCACTCTGTGGATCCAGTGTGAGTCGGGGACAAGCGGGACCCCTGCCCCTTCCGAGGTAGCCAGGAGCTCTCCTGGGGCAGCTGCAGCTGCCCAAGCCAGGACCCAGGCATCTCTACTGCCCCCACAAGCTCAGGGGTGTCTGCTCCCACTGTCTGGCCTCCTCCTGCTCCAGTGCCCACTCCAATCTCAGAGCGGGACCAAGCCCAGGCACTACCACAGCCTGGCACGCTCGAGGCAGCACTGACTCACTGGCCCCAGCTGCCTCGGCCCCCTCTGGACTTTAGGCACCAATGAGCACAGGGGGATGGGAAGCCACGGGGGTGCAGGGGACAGCTTGGCACTGGCCTGCAGGTGCCCCTTGGCCCGAGCAGCCTGGGCAGAAGGAGGCGGGTCCCTGGTGAGGTCCCACCTTCAGGCTGGGGAGGGCCTGAAAAACAAGGCCCTTGTTGGGCCTTGACCCAACAAGGTAGGTGCCATTATTATGCCCATTTTACAGAAGGGGAGACTGGGGCACAGGGGTTGCCCAATGTCACCCAGCTGGTGAGCCAGGGCTGGAGCATCCAGCTCCAGAGTCTACACCCTTCACCCCCCACACTGCACTGCACTGCCAAGCCCCCGGGAAGAGCTGGGTGTGGTCATTACAGTTACTGGAGTGCTGTCTTACTTGATAAGGAACACAAGTGTCACAGGACCCACAAAGCGCAGGGGAGACAGCAGGAGCAGAGGCAGAATGGCAGATGCCTCACATACAGAGGGTCCGTCGGCCCTGGGGCAGGCCTGAGTCCACTCCCTGGGGTGTCACCTGTTTTTCTCTGCCTCTTGCTCAGCGCTGGGCATCCTGCTTAGCCACAGCCCCAGCCATTGGGCCTCAGCTCTTCCCCTGGCATCCGGCCCACCCTGAGATCGCAGCCCGGAGCTGGGAGACCACCCTCTCCCTGCACTCTCTCCCTGGGTGGGCTACTCACATCTGGGGCTCCGAGGATCAGGTTGCAGGCCCAGGATGCTTGACTCACGGGGAGCAGCTCACAGGTTTGGTTCCACCGCCTTTCATGGCAAAAGACCCTCTTTAGAAGAACAGGAAGGACCCACACAGCTGGCCCAAGGGACTCTTCTCAGATCTCTCTGCTGCCAGGATGGCACCAGGCAGCAAGGCCAGGCTGGGGCCCCTGTGCCAACCACTGTGAGGGGCACTGCCTCCCCCACTGGCTCCATGGCATTCCTCCCTCATGGGCACCTTGTCCTGCTCCCTCATCCCAGCCTGGTCCCACGGCAGCTGGAGTGATCTAGAAACACAAACCACTTCAAGACAGGCAGTCCTCCCCACCTAGAGCCCTCCAAAGCTCCATGAGGCTTAGGATGAAGATAGATCCTTAATTAGGCCTTCAGAGCCGTGTGGAATCACCACCCACCCAGAAGCCAGGGCCCGAACCTGCCTTACCCCTCCATCTCCCTCCCCATTTTCCCCCACCCCACACCCTATGGAATCCACCTGGGCCCAGCCACCTCTCTGTGGTCTTCCTCTTCTCCCTGACCCCATCAAGCCTACCTGGGGTCAGTCCCTCACTCACTGGCCGCCTGGATGTTTACATCACAGTGACATCTCTCTCCCATCCACCAGGCACCCAAACCACTCCCAGGTTCCCTGTCCCCACAGCTGCCTACAGGGTCTCTCAAAATCCGAGCTTATCCAAAAAGCTTGGGGACCCTCCTTTCTCCCCACTTCCTCTCTGCTTGCCTCTAGAGTGGAGTCCAGCCTTGGCATAGCAGGCTTGCAGCTCAGTGTCCCCAAACTACCCTGTCCAGTTCATCCCCAGCCCCTCCACTGCAGCCTGGACTCCACCCAGGTTCTAGAAGTCTAAATAGCTGACTCCCAAATTCTCTTAAACGATCCCTTGATTCCAGGCCTGGGCCCCAACTCCTGTGATTCAAAAAGTCTGTGGGTCCCATTAGTCCAAGATTCTGTAAACGTTGACTCCTTGGAGTCCAGTGCATAGGATCCAGAATATGAGATCCCACCATCCTAAGATTCTGCAGTGTGGCCAGTGGACTCACCGTCTGTCCGGCCAGGCATGGACTTGGCAGGAAGTGTCCTGCAGAGCCCCATCTTGGCTCCAGACACAGGAGATGTTGGCTCTCGAGTTGTAGAAGCATGTGAACTGGGAAGTGCCTGCCGGGCAAGATGAGGTGTGAGTGCTGACTGTAGGTGCCCACAGCCCCCCCAAGACACGCCCACTGCCCCTGCACCTGGCACCCACACCTGCCAGAGGAGGAGGTGGGTAACTCTGGCAAGCGGAGAAGGGATTCATGGACCCACTTCAGAGAGGAGGAAATGGAGCTCCAGAGCCTGCAAGTTCCTACAGGCAAACTAAGGCAAGGCAGGGACAGAAAGTAGCACAAGCCTGTGGCTTGGAGAGGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCATTCATGCATGCATGCCAGGGCAGGGGTCCAGGACAGAGGGTGAGGCAGGAGGTGGACACCTGGTCTCTGGCCCCATCCCCTTCTGGGAAGAGGCTTTAGCAGGGCCTTAGCCATCTCTCCATAGGGAAAGCAGAGCTGTTCAGATGTCAGGGTCCTCACCATTCACCGCTGCAGATGCCCAAGAGGTAGCCAGGGGCAGGAGGAGGATGAGGAGGGGCAGACGCCAGGACAGAGCAGGGGCCGCCATTACATCCACAGGGTGGAGCCGAGGAAGGAAGCCCTGGTGGGAGAGGAGAAAGAGAGAGCACACGTAAATACACATCCCAGGCCTCGCTGCCCCTAGAGGCAGGCTGGGCCCGCCCCCTCAGTGTGCATGGTCTGCACTCCTCGGTGCCAGCTCAGTCCAGCCCCAGGGCCTTTGCACCTGCTAATCCCACCACCCTACACATGCTCACACCCTTCCTTCAAGTTTCTGCTCAACTGCAGCCTCCTTTGAGAGGTCTTCTTTGACTAGACTACATAAAGAAGCACCCGTCGTGGCCAGGCGTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGCAGACGAATCACCTGAGGT
ACTTGGGCACAGGCACTGTCACTATTTCCATTCTACAGCTGAGGAGACTGAAGCACAGAGAGCCTTAGGGACTTGCCTGAGGTCACACAGCTAAGAAATGGTGGAGCCAGGATCAGAAACCAGGCCACCTACAGAGCTCCCTGCAAGGGGAACAGCATCCGGTTCCAGAGGCTGTGATTTTATCAGCTACACTGTGTGACTCCATCTTCACACTCTCCTGCCCCTCAAGAAGACATATAACCTGATGGAAGATGTGGTCCGGGTGTCCTTGGAGCCCGCTGCCGCCCAGGAGGCTTTGACAGACAATAATTTGATGTACACTCATATGGACATGGCCATATGCCCTGCAAGAGGCAGCCTAATGCAACGGTGAGAAGCCTGAACTGGGAGCCCGCAGGCCTGGGTTCAATCCCAGCTGTGTACTTCCTGGCTGTGTGACCTTGGGCAGAGACCATACCTCTCTGAGCCTCAGTGTCTTCATTGGTAAGAAGGGGACAGTGCTGATGTTGACCCATGGGGCTGTAGGTGAAGGCCGCAGCTGCCCATCCGGAGTGGCCGCTGCTAAAACTCTGGCTGCAGCCGGGAGGCGTAGCTGGGGTCTCCTGCTCCACGGAGCAGGTAGGAGCCCTGCCCTCCCAGGCAGGGCTGCAGCTGCCTAAGTCTTGGCTGTGGACCCAGGCCTCCTGGTGCTGTTGGGGGCTGGGATCAGGCAAGAGCCCCGCTCTCCTGGGCGCAGCTGCAGCCACCCAAGTCGTGGCCACAGAGCCAGGTGTCCCTGCACTCTCAGGGGCCCTGGTCCAAACCCAAGCCTCCAGGTGATCTTGCAAGCAGGGAGCACGCAGGAGACCCACCCTCCCGGGCACAGCTGCAGCTACCCAAGTTGTGGCTGTGGACCCAGGCATCCCTGCACTCTCAGGGTCTGGGAAGATCCCCCCTTGCCTCCGCAGGCTCAGAGCTGTCTGTTCCCACTGCTTGGCCTCTCCCCTGCTTCTGGCACCCGATCTGATCCTGGAGGCACAGTCGGGGCTACGCACTCTGTGGATCCAGTGTGAGTCGGGGACAAGCGGGACCCCTGCCCCTTCCGAGGTAGCCAGGAGCTCTCCTGGGGCAGCTGCAGCTGCCCAAGCCAGGACCCAGGCATCTCTACTGCCCCCACAAGCTCAGGGGTGTCTGCTCCCACTGTCTGGCCTCCTCCTGCTCCAGTGCCCACTCCAATCTCAGAGCGGGACCAAGCCCAGGCACTACCACAGCCTGGCACGCTCGAGGCAGCACTGACTCACTGGCCCCAGCTGCCTCGGCCCCCTCTGGACTTTAGGCACCAATGAGCACAGGGGGATGGGAAGCCACGGGGGTGCAGGGGACAGCTTGGCACTGGCCTGCAGGTGCCCCTTGGCCCGAGCAGCCTGGGCAGAAGGAGGCGGGTCCCTGGTGAGGTCCCACCTTCAGGCTGGGGAGGGCCTGAAAAACAAGGCCCTTGTTGGGCCTTGACCCAACAAGGTAGGTGCCATTATTATGCCCATTTTACAGAAGGGGAGACTGGGGCACAGGGGTTGCCCAATGTCACCCAGCTGGTGAGCCAGGGCTGGAGCATCCAGCTCCAGAGTCTACACCCTTCACCCCCCACACTGCACTGCACTGCCAAGCCCCCGGGAAGAGCTGGGTGTGGTCATTACAGTTACTGGAGTGCTGTCTTACTTGATAAGGAACACAAGTGTCACAGGACCCACAAAGCGCAGGGGAGACAGCAGGAGCAGAGGCAGAATGGCAGATGCCTCACATACAGAGGGTCCGTCGGCCCTGGGGCAGGCCTGAGTCCACTCCCTGGGGTGTCACCTGTTTTTCTCTGCCTCTTGCTCAGCGCTGGGCATCCTGCTTAGCCACAGCCCCAGCCATTGGGCCTCAGCTCTTCCCCTGGCATCCGGCCCACCCTGAGATCGCAGCCCGGAGCTGGGAGACCACCCTCTCCCTGCACTCTCTCCCTGGGTGGGCTACTCACATCTGGGGCTCCGAGGATCAGGTTGCAGGCCCAGGATGCTTGACTCACGGGGGGCAGCTCACAGGTTTGGTTCCACCGCCTTTCATGGCAAAAGACCCTCTTTAGAAGAACAGGAAGGACCCACACAGCTGGCCCAAGGGACTCTTCTCAGATCTCTCTGCTGCCAGGATGGCACCAGGCAGCAAGGCCAGGCTGGGGCCCCTGTGCCAACCACTGTGAGGGGCACTGCCTCCCCCACTGGCTCCATGGCATTCCTCCCTCATGGGCACCTTGTCCTGCTCCCTCATCCCAGCCTGGTCCCACGGCAGCTGGAGTGATCTAGAAACACAAACCACTTCAAGACAGGCAGTCCTCCCCACCTAGAGCCCTCCAAAGCTCCATGAGGCTTAGGATGAAGATAGATCCTTAATTAGGCCTTCAGAGCCGTGTGGAATCACCACCCACCCAGAAGCCAGGGCCCGAACCTGCCTTACCCCTCCATCTCCCTCCCCATTTTCCCCCACCCCACACCCTATGGAATCCACCTGGGCCCAGCCACCTCTCTGTGGTCTTCCTCTTCTCCCTGACCCCATCAAGCCTACCTGGGGTCAGTCCCTCACTCACTGGCCGCCTGGATGTTTACATCACAGTGACATCTCTCTCCCATCCACCAGGCACCCAAACCACTCCCAGGTTCCCTGTCCCCACAGCTGCCTACAGGGTCTCTCAAAATCCGAGCTTATCCAAAAAGCTTGGGGACCCTCCTTTCTCCCCACTTCCTCTCTGCTTGCCTCTAGAGTGGAGTCCAGCCTTGGCATAGCAGGCTTGCAGCTCAGTGTCCCCAAACTACCCTGTCCAGTTCATCCCCAGCCCCTCCACTGCAGCCTGGACTCCACCCAGGTTCTAGAAGTCTAAATAGCTGACTCCCAAATTCTCTTAAACGATCCCTTGATTCCAGGCCTGGGCCCCAACTCCTGTGATTCAAAAAGTCTGTGGGTCCCATTAGTCCAAGATTCTGTAAACGTTGACTCCTTGGAGTCCAGTGCATAGGATCCAGAATATGAGATCCCACCATCCTAAGATTCTGCAGTGTGGCCAGTGGACTCACCGTCTGTCCGGCCAGGCATGGACTTGGCAGGAAGTGTCCTGCAGAGCCCCATCTTGGCTCCAGACACAGGAGATGTTGGCTCTCGAGTTGTAGAAGCATGTGAACTGGGAAGTGCCTGCCGGGCAAGATGAGGTGTGAGTGCTGACTGTAGGTGCCCACAGCCCCCCCAAGACACGCCCACTGCCCCTGCACCTGGCACCCACACCTGCCAGAGGAGGAGGTGGGTAACTCTGGCAAGCGGAGAAGGGATTCATGGACCCACTTCAGAGAGGAGGAAATGGAGCTCCAGAGCCTGCAAGTTCCTACAGGCAAACTAAGGCAAGGCAGGGACAGAAAGTAGCACAAGCCTGTGGCTTGGAGAGGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCATTCATGCATGCATGCCAGGGCAGGGGTCCAGGACAGAGGGTGAGGCAGGAGGTGGACACCTGGTCTCTGGCCCCATCCCCTTCTGGGAAGAGGCTTTAGCAGGGCCTTAGCCATCTCTCCATAGGGAAAGCAGAGCTGTTCAGATGTCAGGGTCCTCACCATTCACCGCTGCAGATGCCCAAGAGGTAGCCAGGGGCAGGAGGAGGATGAGGAGGGGCAGACGCCAGGACAGAGCAGGGGCCGCCATTACATCCACAGGGTGGAGCCGAGGAAGGAAGCCCTGGTGGGAGAGGAGAAAGAGAGAGCACACGTAAATACACATCCCAGGCCTCGCTGCCCCTAGAGGCAGGCTGGGCCCGCCCCCTCAGTGTGCATGGTCTGCACTCCTCGGTGCCAGCTCAGTCCAGCCCCAGGGCCTTTGCACCTGCTAATCCCACCACCCTACACATGCTCACACCCTTCCTTCAAGTTTCTGCTCAACTGCAGCCTCCTTTGAGAGGTCTTCTTTGACTAGACTACATAAAGAAGCACCCGTCGTGGCCAGGCGTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGCAGACGAATCACCTGAGGT
Task1_train_28772
A sequence alteration has been identified in IL2RB (interleukin 2 receptor subunit beta) on Chromosome 22. Is it disease-inducing or harmless?
Pathogenic; Immunodeficiency 63 with lymphoproliferation and autoimmunity
GCCCAAGCCAGGACCCAGGCATCTCTACTGCCCCCACAAGCTCAGGGGTGTCTGCTCCCACTGTCTGGCCTCCTCCTGCTCCAGTGCCCACTCCAATCTCAGAGCGGGACCAAGCCCAGGCACTACCACAGCCTGGCACGCTCGAGGCAGCACTGACTCACTGGCCCCAGCTGCCTCGGCCCCCTCTGGACTTTAGGCACCAATGAGCACAGGGGGATGGGAAGCCACGGGGGTGCAGGGGACAGCTTGGCACTGGCCTGCAGGTGCCCCTTGGCCCGAGCAGCCTGGGCAGAAGGAGGCGGGTCCCTGGTGAGGTCCCACCTTCAGGCTGGGGAGGGCCTGAAAAACAAGGCCCTTGTTGGGCCTTGACCCAACAAGGTAGGTGCCATTATTATGCCCATTTTACAGAAGGGGAGACTGGGGCACAGGGGTTGCCCAATGTCACCCAGCTGGTGAGCCAGGGCTGGAGCATCCAGCTCCAGAGTCTACACCCTTCACCCCCCACACTGCACTGCACTGCCAAGCCCCCGGGAAGAGCTGGGTGTGGTCATTACAGTTACTGGAGTGCTGTCTTACTTGATAAGGAACACAAGTGTCACAGGACCCACAAAGCGCAGGGGAGACAGCAGGAGCAGAGGCAGAATGGCAGATGCCTCACATACAGAGGGTCCGTCGGCCCTGGGGCAGGCCTGAGTCCACTCCCTGGGGTGTCACCTGTTTTTCTCTGCCTCTTGCTCAGCGCTGGGCATCCTGCTTAGCCACAGCCCCAGCCATTGGGCCTCAGCTCTTCCCCTGGCATCCGGCCCACCCTGAGATCGCAGCCCGGAGCTGGGAGACCACCCTCTCCCTGCACTCTCTCCCTGGGTGGGCTACTCACATCTGGGGCTCCGAGGATCAGGTTGCAGGCCCAGGATGCTTGACTCACGGGGAGCAGCTCACAGGTTTGGTTCCACCGCCTTTCATGGCAAAAGACCCTCTTTAGAAGAACAGGAAGGACCCACACAGCTGGCCCAAGGGACTCTTCTCAGATCTCTCTGCTGCCAGGATGGCACCAGGCAGCAAGGCCAGGCTGGGGCCCCTGTGCCAACCACTGTGAGGGGCACTGCCTCCCCCACTGGCTCCATGGCATTCCTCCCTCATGGGCACCTTGTCCTGCTCCCTCATCCCAGCCTGGTCCCACGGCAGCTGGAGTGATCTAGAAACACAAACCACTTCAAGACAGGCAGTCCTCCCCACCTAGAGCCCTCCAAAGCTCCATGAGGCTTAGGATGAAGATAGATCCTTAATTAGGCCTTCAGAGCCGTGTGGAATCACCACCCACCCAGAAGCCAGGGCCCGAACCTGCCTTACCCCTCCATCTCCCTCCCCATTTTCCCCCACCCCACACCCTATGGAATCCACCTGGGCCCAGCCACCTCTCTGTGGTCTTCCTCTTCTCCCTGACCCCATCAAGCCTACCTGGGGTCAGTCCCTCACTCACTGGCCGCCTGGATGTTTACATCACAGTGACATCTCTCTCCCATCCACCAGGCACCCAAACCACTCCCAGGTTCCCTGTCCCCACAGCTGCCTACAGGGTCTCTCAAAATCCGAGCTTATCCAAAAAGCTTGGGGACCCTCCTTTCTCCCCACTTCCTCTCTGCTTGCCTCTAGAGTGGAGTCCAGCCTTGGCATAGCAGGCTTGCAGCTCAGTGTCCCCAAACTACCCTGTCCAGTTCATCCCCAGCCCCTCCACTGCAGCCTGGACTCCACCCAGGTTCTAGAAGTCTAAATAGCTGACTCCCAAATTCTCTTAAACGATCCCTTGATTCCAGGCCTGGGCCCCAACTCCTGTGATTCAAAAAGTCTGTGGGTCCCATTAGTCCAAGATTCTGTAAACGTTGACTCCTTGGAGTCCAGTGCATAGGATCCAGAATATGAGATCCCACCATCCTAAGATTCTGCAGTGTGGCCAGTGGACTCACCGTCTGTCCGGCCAGGCATGGACTTGGCAGGAAGTGTCCTGCAGAGCCCCATCTTGGCTCCAGACACAGGAGATGTTGGCTCTCGAGTTGTAGAAGCATGTGAACTGGGAAGTGCCTGCCGGGCAAGATGAGGTGTGAGTGCTGACTGTAGGTGCCCACAGCCCCCCCAAGACACGCCCACTGCCCCTGCACCTGGCACCCACACCTGCCAGAGGAGGAGGTGGGTAACTCTGGCAAGCGGAGAAGGGATTCATGGACCCACTTCAGAGAGGAGGAAATGGAGCTCCAGAGCCTGCAAGTTCCTACAGGCAAACTAAGGCAAGGCAGGGACAGAAAGTAGCACAAGCCTGTGGCTTGGAGAGGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCATTCATGCATGCATGCCAGGGCAGGGGTCCAGGACAGAGGGTGAGGCAGGAGGTGGACACCTGGTCTCTGGCCCCATCCCCTTCTGGGAAGAGGCTTTAGCAGGGCCTTAGCCATCTCTCCATAGGGAAAGCAGAGCTGTTCAGATGTCAGGGTCCTCACCATTCACCGCTGCAGATGCCCAAGAGGTAGCCAGGGGCAGGAGGAGGATGAGGAGGGGCAGACGCCAGGACAGAGCAGGGGCCGCCATTACATCCACAGGGTGGAGCCGAGGAAGGAAGCCCTGGTGGGAGAGGAGAAAGAGAGAGCACACGTAAATACACATCCCAGGCCTCGCTGCCCCTAGAGGCAGGCTGGGCCCGCCCCCTCAGTGTGCATGGTCTGCACTCCTCGGTGCCAGCTCAGTCCAGCCCCAGGGCCTTTGCACCTGCTAATCCCACCACCCTACACATGCTCACACCCTTCCTTCAAGTTTCTGCTCAACTGCAGCCTCCTTTGAGAGGTCTTCTTTGACTAGACTACATAAAGAAGCACCCGTCGTGGCCAGGCGTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGCAGACGAATCACCTGAGGTCAAGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCAAGGTGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGTCTAAGACAGGAGAATTGCTTGAACCTGGAGGCGGAGTTTGCAGTGAACCGAGATGGCACCACTGCACTCCAGCCTGGACGACAGAGTAAGACTCTGTCTCAAAGAAAAAAATAAAAGAAGCACCCTTTGTTACTCACCACCCCCCTACATTTTCATCATAGCATTATTTATTCATCGTTTATTGACTGATTCATGTTTTCCTCTATCTCTCTTCACAAACACACACAGAGTCACGTAAGCTCACTAAGGACAGGTATTTTTGTGTTTTGTTCATTGCTAGGTCCACAATTCCTAGAACAGTGCCTGGCACATAGTAGGCATCTGGCCAAAAAAAATTCTTGAACAAACAAGTGATGGAATAAATATAGACAGAGCTAAAGTCAGCAGGTAGAGGGGCTTCCAGAGGGCTCTGAGGCTAGCCCCTGCCTCTGCCCCTCACTGTCCCTCGAGGGAGCTGAGGCAATGGTGTGAAGGCATCAGGACGCGAACTCGGAAAAGCAGAAAAGCAGATAGGAGCTCTGACCCAAACACTGAAGAGCCCTAGAGGACAGGGGAAACTGAGGCACAGAGGGCTGCAGTAGCCTTTACGGAGGACCTTGTCCACACTCGTACTCCCCTACCTGCCTGGAAGCTCCCTGGAGGCAGGGCCAGGTTGGTCACCCAGATTATACCCCAGGGAGGAAAGAGACATGAAATCTCTAAGCCAGCCCTGTCAGAGGGAGGCTCAAAAGTTTTCCCGGAGTGCCTATTATGCACTGGCCACTGGCCAGTGCTTTATTTATTTACTTTTTTTTTTTGAGACAAAGACTTGCTTCTCAGGGAACCTCTAGCCAACCGTGGAAGCTCCCGTGAGGCAAGACCACAACTGTCGCAGCGGAAATGGGAAAGAAAAGTAGCTGCCCCCACCCTCTGCAGGGGCTGGGTGTGCGGAGGGGAATGAGAAAGTGAGCACATGGTCACTTCGGGAAGATAAGGGGACTGCTTCCAGGAGAGGTGTTTGGAGCAGGCA
GCCCAAGCCAGGACCCAGGCATCTCTACTGCCCCCACAAGCTCAGGGGTGTCTGCTCCCACTGTCTGGCCTCCTCCTGCTCCAGTGCCCACTCCAATCTCAGAGCGGGACCAAGCCCAGGCACTACCACAGCCTGGCACGCTCGAGGCAGCACTGACTCACTGGCCCCAGCTGCCTCGGCCCCCTCTGGACTTTAGGCACCAATGAGCACAGGGGGATGGGAAGCCACGGGGGTGCAGGGGACAGCTTGGCACTGGCCTGCAGGTGCCCCTTGGCCCGAGCAGCCTGGGCAGAAGGAGGCGGGTCCCTGGTGAGGTCCCACCTTCAGGCTGGGGAGGGCCTGAAAAACAAGGCCCTTGTTGGGCCTTGACCCAACAAGGTAGGTGCCATTATTATGCCCATTTTACAGAAGGGGAGACTGGGGCACAGGGGTTGCCCAATGTCACCCAGCTGGTGAGCCAGGGCTGGAGCATCCAGCTCCAGAGTCTACACCCTTCACCCCCCACACTGCACTGCACTGCCAAGCCCCCGGGAAGAGCTGGGTGTGGTCATTACAGTTACTGGAGTGCTGTCTTACTTGATAAGGAACACAAGTGTCACAGGACCCACAAAGCGCAGGGGAGACAGCAGGAGCAGAGGCAGAATGGCAGATGCCTCACATACAGAGGGTCCGTCGGCCCTGGGGCAGGCCTGAGTCCACTCCCTGGGGTGTCACCTGTTTTTCTCTGCCTCTTGCTCAGCGCTGGGCATCCTGCTTAGCCACAGCCCCAGCCATTGGGCCTCAGCTCTTCCCCTGGCATCCGGCCCACCCTGAGATCGCAGCCCGGAGCTGGGAGACCACCCTCTCCCTGCACTCTCTCCCTGGGTGGGCTACTCACATCTGGGGCTCCGAGGATCAGGTTGCAGGCCCAGGATGCTTGACTCACGGGGAGCAGCTCACAGGTTTGGTTCCACCGCCTTTCATGGCAAAAGACCCTCTTTAGAAGAACAGGAAGGACCCACACAGCTGGCCCAAGGGACTCTTCTCAGATCTCTCTGCTGCCAGGATGGCACCAGGCAGCAAGGCCAGGCTGGGGCCCCTGTGCCAACCACTGTGAGGGGCACTGCCTCCCCCACTGGCTCCATGGCATTCCTCCCTCATGGGCACCTTGTCCTGCTCCCTCATCCCAGCCTGGTCCCACGGCAGCTGGAGTGATCTAGAAACACAAACCACTTCAAGACAGGCAGTCCTCCCCACCTAGAGCCCTCCAAAGCTCCATGAGGCTTAGGATGAAGATAGATCCTTAATTAGGCCTTCAGAGCCGTGTGGAATCACCACCCACCCAGAAGCCAGGGCCCGAACCTGCCTTACCCCTCCATCTCCCTCCCCATTTTCCCCCACCCCACACCCTATGGAATCCACCTGGGCCCAGCCACCTCTCTGTGGTCTTCCTCTTCTCCCTGACCCCATCAAGCCTACCTGGGGTCAGTCCCTCACTCACTGGCCGCCTGGATGTTTACATCACAGTGACATCTCTCTCCCATCCACCAGGCACCCAAACCACTCCCAGGTTCCCTGTCCCCACAGCTGCCTACAGGGTCTCTCAAAATCCGAGCTTATCCAAAAAGCTTGGGGACCCTCCTTTCTCCCCACTTCCTCTCTGCTTGCCTCTAGAGTGGAGTCCAGCCTTGGCATAGCAGGCTTGCAGCTCAGTGTCCCCAAACTACCCTGTCCAGTTCATCCCCAGCCCCTCCACTGCAGCCTGGACTCCACCCAGGTTCTAGAAGTCTAAATAGCTGACTCCCAAATTCTCTTAAACGATCCCTTGATTCCAGGCCTGGGCCCCAACTCCTGTGATTCAAAAAGTCTGTGGGTCCCATTAGTCCAAGATTCTGTAAACGTTGACTCCTTGGAGTCCAGTGCATAGGATCCAGAATATGAGATCCCACCATCCTAAGATTCTGCAGTGTGGCCAGTGGACTCACCGTCTGTCCGGCCAGGCATGGACTTGGCAGGAAGTGTCCTGCAGAGCCCCATCTTGGCTCCAGACACAGGAGATGTTGGCTCTCAAGTTGTAGAAGCATGTGAACTGGGAAGTGCCTGCCGGGCAAGATGAGGTGTGAGTGCTGACTGTAGGTGCCCACAGCCCCCCCAAGACACGCCCACTGCCCCTGCACCTGGCACCCACACCTGCCAGAGGAGGAGGTGGGTAACTCTGGCAAGCGGAGAAGGGATTCATGGACCCACTTCAGAGAGGAGGAAATGGAGCTCCAGAGCCTGCAAGTTCCTACAGGCAAACTAAGGCAAGGCAGGGACAGAAAGTAGCACAAGCCTGTGGCTTGGAGAGGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCATTCATGCATGCATGCCAGGGCAGGGGTCCAGGACAGAGGGTGAGGCAGGAGGTGGACACCTGGTCTCTGGCCCCATCCCCTTCTGGGAAGAGGCTTTAGCAGGGCCTTAGCCATCTCTCCATAGGGAAAGCAGAGCTGTTCAGATGTCAGGGTCCTCACCATTCACCGCTGCAGATGCCCAAGAGGTAGCCAGGGGCAGGAGGAGGATGAGGAGGGGCAGACGCCAGGACAGAGCAGGGGCCGCCATTACATCCACAGGGTGGAGCCGAGGAAGGAAGCCCTGGTGGGAGAGGAGAAAGAGAGAGCACACGTAAATACACATCCCAGGCCTCGCTGCCCCTAGAGGCAGGCTGGGCCCGCCCCCTCAGTGTGCATGGTCTGCACTCCTCGGTGCCAGCTCAGTCCAGCCCCAGGGCCTTTGCACCTGCTAATCCCACCACCCTACACATGCTCACACCCTTCCTTCAAGTTTCTGCTCAACTGCAGCCTCCTTTGAGAGGTCTTCTTTGACTAGACTACATAAAGAAGCACCCGTCGTGGCCAGGCGTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGCAGACGAATCACCTGAGGTCAAGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCAAGGTGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGTCTAAGACAGGAGAATTGCTTGAACCTGGAGGCGGAGTTTGCAGTGAACCGAGATGGCACCACTGCACTCCAGCCTGGACGACAGAGTAAGACTCTGTCTCAAAGAAAAAAATAAAAGAAGCACCCTTTGTTACTCACCACCCCCCTACATTTTCATCATAGCATTATTTATTCATCGTTTATTGACTGATTCATGTTTTCCTCTATCTCTCTTCACAAACACACACAGAGTCACGTAAGCTCACTAAGGACAGGTATTTTTGTGTTTTGTTCATTGCTAGGTCCACAATTCCTAGAACAGTGCCTGGCACATAGTAGGCATCTGGCCAAAAAAAATTCTTGAACAAACAAGTGATGGAATAAATATAGACAGAGCTAAAGTCAGCAGGTAGAGGGGCTTCCAGAGGGCTCTGAGGCTAGCCCCTGCCTCTGCCCCTCACTGTCCCTCGAGGGAGCTGAGGCAATGGTGTGAAGGCATCAGGACGCGAACTCGGAAAAGCAGAAAAGCAGATAGGAGCTCTGACCCAAACACTGAAGAGCCCTAGAGGACAGGGGAAACTGAGGCACAGAGGGCTGCAGTAGCCTTTACGGAGGACCTTGTCCACACTCGTACTCCCCTACCTGCCTGGAAGCTCCCTGGAGGCAGGGCCAGGTTGGTCACCCAGATTATACCCCAGGGAGGAAAGAGACATGAAATCTCTAAGCCAGCCCTGTCAGAGGGAGGCTCAAAAGTTTTCCCGGAGTGCCTATTATGCACTGGCCACTGGCCAGTGCTTTATTTATTTACTTTTTTTTTTTGAGACAAAGACTTGCTTCTCAGGGAACCTCTAGCCAACCGTGGAAGCTCCCGTGAGGCAAGACCACAACTGTCGCAGCGGAAATGGGAAAGAAAAGTAGCTGCCCCCACCCTCTGCAGGGGCTGGGTGTGCGGAGGGGAATGAGAAAGTGAGCACATGGTCACTTCGGGAAGATAAGGGGACTGCTTCCAGGAGAGGTGTTTGGAGCAGGCA
Task1_train_28773
Gene RAC2 (Rac family small GTPase 2) on Chromosome 22 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
TCCAGCACCCTCCACATGATCCCAAAGCATGTGCTTTACAAGGGAGAGGTCAGTGACAGCCAGGCCACAGGCTGGAGAGCTGCACCCTGAATAGAAGGAGTCCAGGGGCAGGGGTTGGAGGGGTGCTGGTTGGTCAGAAAGAGAAGGCAGGGATGAATCCTTGATATTTAAAAGGAAAGACTTGCAGGCTGGGGAGCTGTGGCCCTAGGACAGGGGAAGGGAGCCAGGGTGTGAGCCATAGTCTGAGGCCCCCGGGGAAGATGGCTGTGTCACCACGCTAGTCACAGAAGGAGGGAGGTGGTGGCTGCGGTTTCTCTTCCTGTGAAGAGATGTGAGTCCCCAGGGCCCTCCCAGTTCCGGCAGGGGGAGGTGGGGCGGGGCTGGGGCGGTGGGGCGGGAGGAGGTCTAGTGGATTCAATTTGGGGGCCAAACCCTGGGCCTGCAGAGTCCTGTGGTGAGGCAGAGGGCACAGCTCATATGACCAAACCCAGCTGGTGGTTTTGGGCTTTTGGGCAAGGATCCCTGAGCTACAGACACATTGGGACCTACCAGGGACAGGGACAGGAACAGCCAGCAGGCCTGGGTACCATGCATGAAGCCAGACCCATGGTCATCGCCTCCCTGATGCAGGCAGCCCTGAGCCACTACAAAGAAGCACCCCCCAGCAGTGAGCCAATAATTTGCTGTCCTTCCTTCAAATCTGGCTGGGCCACCTACTAGCTGGGTGACCTTGAGAAGTTACTATATTTCTCCAGCCCAGTGATTTGGAGGCAAAGAGGGGTCGAGCTGAGAAACCAAAGGGAGTGGGGAAAGGGAGGAGAGAAGGTGGTGGAAGGAAATGTGTCACCCTTTAGATCTAATGCAGCGCCACCTCCTCCAGGAAGCCTTCCCAGAACACCCAAGTTTGACTTGCCACTTGTCCTCCAAGCAACCACAGCACCCCCACTCAATCTCTGCTTCTGTCTGCTCAAAGCACACCTCCTTATTTTCAGTATCTATTAATAGATACTACTCATACTACTAGGACGACTACTACTAACACAGAGTGCTTCTCACACACAGGTGCTGCCCTGGCAGCTCCACCTGGAATAAGTTACTGAATTCCCCCAACCACCCCAGGAGGCAGGAGCTATCACTATCCCATGCTTTTCTGATAAGGAAACACAGGCAGAGAGAGGCTACGTGACTCGCCCAAGGTCACACAGCAAGTGCACAGCACAGCTGAGTTCAAACTGCACAGCCTGGCCCTGCAGCCCGTGTTTACAATCACACCACGAGGCCAAGTCAGGGCCTCCCCTGCAGCCAGATCGCCCCTCTGAGCCCGAGGCCCATACCAATCTCCTTGGCCAGTGCCAGGCCCTGCGGGTAGGTGATGGGAGCCAGCTTCTTCTCCTTCAGTTTCTCGATGGTGTCCTTGTCGTCCCGCAGGTCCAGCTTGGTGCCCACCAGGATGATGGGTGTGCTGGGGCAGTGGTGCCGCACTTCTGGGAACCACTGGGCAGGTGGGTGGGGGGACACAAGGTTGTATGGGTCAAGAGGGGGCGCGAGGCTGTGCGGGGATCAGAGGGAGTGTGAGGGTGTAGGGAGAGGAGAGGCAGCAAGTTGCCAGAAGATCAGAGGTGGGCACGACGGTGAGGAGAGAGAGACGTGAGGTGGCACAGGGAGGGGAGGCCACGACGTTGTGCAGGAAGGAGGGGGCGCATGATTGTAGGAAAGGAGGAGGCGAGGTTTTGTGCAGACATAAGAAGCAAACATGAGGTTATGTGACAATCGGAGGCGGACATGAGGTTGTGTGGGGAGGAGGAGAATGCAGCCATGGAAAGTGGGGGTATAGCTAACTATCGCAGCACCCCCCACCCCAGGTCCTCTGAATCTTACCCCCTCAAGTCCCTCTGCCAGCCCTGGTTGGCACTGGGGACCCTCTCTGTATGCGACCTCTGCTGCCCCAGGGACCAGCCTAGAGTCACCAGTTCCTCCCTCTGTCCCTCAGGGTTACCTGCCCCAGAGCCCCCAAGGCCCACCCTGTCCAGCTCACCTTGGCGCGGACGTTCTCATAAGAGGCTGGGCTGACGAGGGAGAAGCAGATGAGGAAGACGTCCTGGGGACAGAGCAAGCGAGGTTGCTAGTGAGGAGGGCCCAGAGGTGTCCCACCATGGCAGCCACCGAGAGGTGGAGCTTGGGGCTCCCTGAGGGTGGAACACCCCAGGGAATGCTGGGGACTTAGGATCTGGGCAGAGCAGAGATACCCTTCTCGCCTCTACCACGAGGCTGCTGTTTGTTAGGACGCTCACTAAAGGCCAGGGCCTCTGCGAAGTGGTTATCCTCACATGTCACTCTGCAGCAAGCACTGCTGGTAGCCCCATTCCTCAGACAGGGAAAGTGAGGCTTCCAGAGGTTAAAGAGTTTGCCAACGTGCACTCTGGTGAGGGGAGGATCTGGGATTCTAGAGTCCATACTCCAATCCATATACTATCCACCATCTGATTACCGGCCTTAGCCGCCTCCCTGCATACCCTGGAGGAAGGGCGAGGACCCAGCAGCCACCTGCAGGCATCCTCCACCTCTCCCCTCCCCCAGCACTCCCAGGGCTCACCATGCTGGGCTGCCTCCTGGGGCCCTGTGCAGAATCCACCTGCCCCACCACTGGAAACAGGGGGTGCCAGAGCCCAGGAGGCAATGGGGTGGGAAGATGGGCACATTGAGGACCGGGAACCAATGCAGGGCTGAGGGAGTGCAAGAGGAAGCCCTTCTCTGCCTGGGACATGCAAGGCAGGCAGACTCCCTGAGCTGGGCCTTAAGGGGAGAGGTAGGGTTTCCCAGGCTGAGCTGGCTGGAAGGGCATCCCAAGCAGAGGGAACAGAGACAGCAAAGGTCAGGACTGCAAGGCAGGTGGGAGCAGCACACCGTCTGTGGATAGGAGAGCGGCCGGAGACGGTCGTAGTCCTCCTGCCCAGCAGTGTCCCACAGCCCCAGGTTCACTGGCTTGCTGTCCACCATCACATTGGCTGAATAGTTGTCAAACCTGTGGGGAGCAGGCAAGGCGGAGGTAAGGTCAATCTCAAACCCCAGAACCTGGGAATTGTGGTCCAGCTCCATGTCATTCCTCGGAGGCTGAGACCTAGAGACAGTCTGCGACTGGCCCAAAGTCACACAGCATTTGCAATTGGGTTTCTTTATTTGTTTCATTACTGATTCATTATATTTTTTAAAAATGTAATACAAGTTAACAAGAAGAAAAAAAGATTGTCTCTTAATCCTTTTCCTACCCGTACCTGTCCTTTGGAAAGGTAATTGAGGCTGTGTAACTTTTCCTCCCAGTCTTGATGAGAATAAACTTACCTCTCTCCCTATGCTGCCACTCAATGTTTGCTTTTTGTTGTTTTTTGTTTGTTTGTTTGTTTTTTGAAATGGAATCACGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCCCACTGCAAACTCTGCCCCCTGGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAAACAGGGTTTCACCATGTTGACCAGGCTGGTCTCGAACCCCTGAACTTAAGTGATCCGCCCGCCTCGGCCTCTCAAAGTGCTAGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCAATATTTTGTCGAATGAATGTTCATCCCGTCTCAGGCTGGGTCCCCCCAGAAGCAAACCCTGAGACAAGGAGGTGATGTGAGGGGTTTATTCGGGAAGTGACTCCAGGATGCTGCAGAAGGGGAGTGGGGAGGAATAAAGGAGGGGACAGCAGCTGACACAGGGCAGGTGGTTGAGTTGTCATGGCTGTGGACTGCTGCTGCTCTCAGTCCTGCTGGGGCCACCTGGGAGACAGAACGGACCGTGCTCAGGGCGTCCCCAGAGAAGGCAGGAAGCTAGGGTGCTGTCATTCATCTCCCATCTTCCAGGGAAAGAGGGCTGCTTCCGGGGCCTTTCAGCCCACCCCAGAGTGTGCGTGAAAGCTGTTAGTCACTGGCCATGGGAAGGGCCACGGCAAACGGTAGAAAGA
TCCAGCACCCTCCACATGATCCCAAAGCATGTGCTTTACAAGGGAGAGGTCAGTGACAGCCAGGCCACAGGCTGGAGAGCTGCACCCTGAATAGAAGGAGTCCAGGGGCAGGGGTTGGAGGGGTGCTGGTTGGTCAGAAAGAGAAGGCAGGGATGAATCCTTGATATTTAAAAGGAAAGACTTGCAGGCTGGGGAGCTGTGGCCCTAGGACAGGGGAAGGGAGCCAGGGTGTGAGCCATAGTCTGAGGCCCCCGGGGAAGATGGCTGTGTCACCACGCTAGTCACAGAAGGAGGGAGGTGGTGGCTGCGGTTTCTCTTCCTGTGAAGAGATGTGAGTCCCCAGGGCCCTCCCAGTTCCGGCAGGGGGAGGTGGGGCGGGGCTGGGGCGGTGGGGCGGGAGGAGGTCTAGTGGATTCAATTTGGGGGCCAAACCCTGGGCCTGCAGAGTCCTGTGGTGAGGCAGAGGGCACAGCTCATATGACCAAACCCAGCTGGTGGTTTTGGGCTTTTGGGCAAGGATCCCTGAGCTACAGACACATTGGGACCTACCAGGGACAGGGACAGGAACAGCCAGCAGGCCTGGGTACCATGCATGAAGCCAGACCCATGGTCATCGCCTCCCTGATGCAGGCAGCCCTGAGCCACTACAAAGAAGCACCCCCCAGCAGTGAGCCAATAATTTGCTGTCCTTCCTTCAAATCTGGCTGGGCCACCTACTAGCTGGGTGACCTTGAGAAGTTACTATATTTCTCCAGCCCAGTGATTTGGAGGCAAAGAGGGGTCGAGCTGAGAAACCAAAGGGAGTGGGGAAAGGGAGGAGAGAAGGTGGTGGAAGGAAATGTGTCACCCTTTAGATCTAATGCAGCGCCACCTCCTCCAGGAAGCCTTCCCAGAACACCCAAGTTTGACTTGCCACTTGTCCTCCAAGCAACCACAGCACCCCCACTCAATCTCTGCTTCTGTCTGCTCAAAGCACACCTCCTTATTTTCAGTATCTATTAATAGATACTACTCATACTACTAGGACGACTACTACTAACACAGAGTGCTTCTCACACACAGGTGCTGCCCTGGCAGCTCCACCTGGAATAAGTTACTGAATTCCCCCAACCACCCCAGGAGGCAGGAGCTATCACTATCCCATGCTTTTCTGATAAGGAAACACAGGCAGAGAGAGGCTACGTGACTCGCCCAAGGTCACACAGCAAGTGCACAGCACAGCTGAGTTCAAACTGCACAGCCTGGCCCTGCAGCCCGTGTTTACAATCACACCACGAGGCCAAGTCAGGGCCTCCCCTGCAGCCAGATCGCCCCTCTGAGCCCGAGGCCCATACCAATCTCCTTGGCCAGTGCCAGGCCCTGCGGGTAGGTGATGGGAGCCAGCTTCTTCTCCTTCAGTTTCTCGATGGTGTCCTTGTCGTCCCGCAGGTCCAGCTTGGTGCCCACCAGGATGATGGGTGTGCTGGGGCAGTGGTGCCGCACTTCTGGGAACCACTGGGCAGGTGGGTGGGGGGACACAAGGTTGTATGGGTCAAGAGGGGGCGCGAGGCTGTGCGGGGATCAGAGGGAGTGTGAGGGTGTAGGGAGAGGAGAGGCAGCAAGTTGCCAGAAGATCAGAGGTGGGCACGACGGTGAGGAGAGAGAGACGTGAGGTGGCACAGGGAGGGGAGGCCACGACGTTGTGCAGGAAGGAGGGGGCGCATGATTGTAGGAAAGGAGGAGGCGAGGTTTTGTGCAGACATAAGAAGCAAACATGAGGTTATGTGACAATCGGAGGCGGACATGAGGTTGTGTGGGGAGGAGGAGAATGCAGCCATGGAAAGTGGGGGTATAGCTAACTATCGCAGCACCCCCCACCCCAGGTCCTCTGAATCTTACCCCCTCAAGTCCCTCTGCCAGCCCTGGTTGGCACTGGGGACCCTCTCTGTATGCGACCTCTGCTGCCCCAGGGACCAGCCTAGAGTCACCAGTTCCTCCCTCTGTCCCTCAGGGTTACCTGCCCCAGAGCCCCCAAGGCCCACCCTGTCCAGCTCACCTTGGCGCGGACGGTCTCATAAGAGGCTGGGCTGACGAGGGAGAAGCAGATGAGGAAGACGTCCTGGGGACAGAGCAAGCGAGGTTGCTAGTGAGGAGGGCCCAGAGGTGTCCCACCATGGCAGCCACCGAGAGGTGGAGCTTGGGGCTCCCTGAGGGTGGAACACCCCAGGGAATGCTGGGGACTTAGGATCTGGGCAGAGCAGAGATACCCTTCTCGCCTCTACCACGAGGCTGCTGTTTGTTAGGACGCTCACTAAAGGCCAGGGCCTCTGCGAAGTGGTTATCCTCACATGTCACTCTGCAGCAAGCACTGCTGGTAGCCCCATTCCTCAGACAGGGAAAGTGAGGCTTCCAGAGGTTAAAGAGTTTGCCAACGTGCACTCTGGTGAGGGGAGGATCTGGGATTCTAGAGTCCATACTCCAATCCATATACTATCCACCATCTGATTACCGGCCTTAGCCGCCTCCCTGCATACCCTGGAGGAAGGGCGAGGACCCAGCAGCCACCTGCAGGCATCCTCCACCTCTCCCCTCCCCCAGCACTCCCAGGGCTCACCATGCTGGGCTGCCTCCTGGGGCCCTGTGCAGAATCCACCTGCCCCACCACTGGAAACAGGGGGTGCCAGAGCCCAGGAGGCAATGGGGTGGGAAGATGGGCACATTGAGGACCGGGAACCAATGCAGGGCTGAGGGAGTGCAAGAGGAAGCCCTTCTCTGCCTGGGACATGCAAGGCAGGCAGACTCCCTGAGCTGGGCCTTAAGGGGAGAGGTAGGGTTTCCCAGGCTGAGCTGGCTGGAAGGGCATCCCAAGCAGAGGGAACAGAGACAGCAAAGGTCAGGACTGCAAGGCAGGTGGGAGCAGCACACCGTCTGTGGATAGGAGAGCGGCCGGAGACGGTCGTAGTCCTCCTGCCCAGCAGTGTCCCACAGCCCCAGGTTCACTGGCTTGCTGTCCACCATCACATTGGCTGAATAGTTGTCAAACCTGTGGGGAGCAGGCAAGGCGGAGGTAAGGTCAATCTCAAACCCCAGAACCTGGGAATTGTGGTCCAGCTCCATGTCATTCCTCGGAGGCTGAGACCTAGAGACAGTCTGCGACTGGCCCAAAGTCACACAGCATTTGCAATTGGGTTTCTTTATTTGTTTCATTACTGATTCATTATATTTTTTAAAAATGTAATACAAGTTAACAAGAAGAAAAAAAGATTGTCTCTTAATCCTTTTCCTACCCGTACCTGTCCTTTGGAAAGGTAATTGAGGCTGTGTAACTTTTCCTCCCAGTCTTGATGAGAATAAACTTACCTCTCTCCCTATGCTGCCACTCAATGTTTGCTTTTTGTTGTTTTTTGTTTGTTTGTTTGTTTTTTGAAATGGAATCACGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCCCACTGCAAACTCTGCCCCCTGGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAAACAGGGTTTCACCATGTTGACCAGGCTGGTCTCGAACCCCTGAACTTAAGTGATCCGCCCGCCTCGGCCTCTCAAAGTGCTAGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCAATATTTTGTCGAATGAATGTTCATCCCGTCTCAGGCTGGGTCCCCCCAGAAGCAAACCCTGAGACAAGGAGGTGATGTGAGGGGTTTATTCGGGAAGTGACTCCAGGATGCTGCAGAAGGGGAGTGGGGAGGAATAAAGGAGGGGACAGCAGCTGACACAGGGCAGGTGGTTGAGTTGTCATGGCTGTGGACTGCTGCTGCTCTCAGTCCTGCTGGGGCCACCTGGGAGACAGAACGGACCGTGCTCAGGGCGTCCCCAGAGAAGGCAGGAAGCTAGGGTGCTGTCATTCATCTCCCATCTTCCAGGGAAAGAGGGCTGCTTCCGGGGCCTTTCAGCCCACCCCAGAGTGTGCGTGAAAGCTGTTAGTCACTGGCCATGGGAAGGGCCACGGCAAACGGTAGAAAGA
Task1_train_28774
This gene mutation involves RAC2 (Rac family small GTPase 2) on Chromosome 22. Is it associated with any clinical condition, or is it benign?
Pathogenic; Neutrophil immunodeficiency syndrome
CCACTTGTCCTCCAAGCAACCACAGCACCCCCACTCAATCTCTGCTTCTGTCTGCTCAAAGCACACCTCCTTATTTTCAGTATCTATTAATAGATACTACTCATACTACTAGGACGACTACTACTAACACAGAGTGCTTCTCACACACAGGTGCTGCCCTGGCAGCTCCACCTGGAATAAGTTACTGAATTCCCCCAACCACCCCAGGAGGCAGGAGCTATCACTATCCCATGCTTTTCTGATAAGGAAACACAGGCAGAGAGAGGCTACGTGACTCGCCCAAGGTCACACAGCAAGTGCACAGCACAGCTGAGTTCAAACTGCACAGCCTGGCCCTGCAGCCCGTGTTTACAATCACACCACGAGGCCAAGTCAGGGCCTCCCCTGCAGCCAGATCGCCCCTCTGAGCCCGAGGCCCATACCAATCTCCTTGGCCAGTGCCAGGCCCTGCGGGTAGGTGATGGGAGCCAGCTTCTTCTCCTTCAGTTTCTCGATGGTGTCCTTGTCGTCCCGCAGGTCCAGCTTGGTGCCCACCAGGATGATGGGTGTGCTGGGGCAGTGGTGCCGCACTTCTGGGAACCACTGGGCAGGTGGGTGGGGGGACACAAGGTTGTATGGGTCAAGAGGGGGCGCGAGGCTGTGCGGGGATCAGAGGGAGTGTGAGGGTGTAGGGAGAGGAGAGGCAGCAAGTTGCCAGAAGATCAGAGGTGGGCACGACGGTGAGGAGAGAGAGACGTGAGGTGGCACAGGGAGGGGAGGCCACGACGTTGTGCAGGAAGGAGGGGGCGCATGATTGTAGGAAAGGAGGAGGCGAGGTTTTGTGCAGACATAAGAAGCAAACATGAGGTTATGTGACAATCGGAGGCGGACATGAGGTTGTGTGGGGAGGAGGAGAATGCAGCCATGGAAAGTGGGGGTATAGCTAACTATCGCAGCACCCCCCACCCCAGGTCCTCTGAATCTTACCCCCTCAAGTCCCTCTGCCAGCCCTGGTTGGCACTGGGGACCCTCTCTGTATGCGACCTCTGCTGCCCCAGGGACCAGCCTAGAGTCACCAGTTCCTCCCTCTGTCCCTCAGGGTTACCTGCCCCAGAGCCCCCAAGGCCCACCCTGTCCAGCTCACCTTGGCGCGGACGTTCTCATAAGAGGCTGGGCTGACGAGGGAGAAGCAGATGAGGAAGACGTCCTGGGGACAGAGCAAGCGAGGTTGCTAGTGAGGAGGGCCCAGAGGTGTCCCACCATGGCAGCCACCGAGAGGTGGAGCTTGGGGCTCCCTGAGGGTGGAACACCCCAGGGAATGCTGGGGACTTAGGATCTGGGCAGAGCAGAGATACCCTTCTCGCCTCTACCACGAGGCTGCTGTTTGTTAGGACGCTCACTAAAGGCCAGGGCCTCTGCGAAGTGGTTATCCTCACATGTCACTCTGCAGCAAGCACTGCTGGTAGCCCCATTCCTCAGACAGGGAAAGTGAGGCTTCCAGAGGTTAAAGAGTTTGCCAACGTGCACTCTGGTGAGGGGAGGATCTGGGATTCTAGAGTCCATACTCCAATCCATATACTATCCACCATCTGATTACCGGCCTTAGCCGCCTCCCTGCATACCCTGGAGGAAGGGCGAGGACCCAGCAGCCACCTGCAGGCATCCTCCACCTCTCCCCTCCCCCAGCACTCCCAGGGCTCACCATGCTGGGCTGCCTCCTGGGGCCCTGTGCAGAATCCACCTGCCCCACCACTGGAAACAGGGGGTGCCAGAGCCCAGGAGGCAATGGGGTGGGAAGATGGGCACATTGAGGACCGGGAACCAATGCAGGGCTGAGGGAGTGCAAGAGGAAGCCCTTCTCTGCCTGGGACATGCAAGGCAGGCAGACTCCCTGAGCTGGGCCTTAAGGGGAGAGGTAGGGTTTCCCAGGCTGAGCTGGCTGGAAGGGCATCCCAAGCAGAGGGAACAGAGACAGCAAAGGTCAGGACTGCAAGGCAGGTGGGAGCAGCACACCGTCTGTGGATAGGAGAGCGGCCGGAGACGGTCGTAGTCCTCCTGCCCAGCAGTGTCCCACAGCCCCAGGTTCACTGGCTTGCTGTCCACCATCACATTGGCTGAATAGTTGTCAAACCTGTGGGGAGCAGGCAAGGCGGAGGTAAGGTCAATCTCAAACCCCAGAACCTGGGAATTGTGGTCCAGCTCCATGTCATTCCTCGGAGGCTGAGACCTAGAGACAGTCTGCGACTGGCCCAAAGTCACACAGCATTTGCAATTGGGTTTCTTTATTTGTTTCATTACTGATTCATTATATTTTTTAAAAATGTAATACAAGTTAACAAGAAGAAAAAAAGATTGTCTCTTAATCCTTTTCCTACCCGTACCTGTCCTTTGGAAAGGTAATTGAGGCTGTGTAACTTTTCCTCCCAGTCTTGATGAGAATAAACTTACCTCTCTCCCTATGCTGCCACTCAATGTTTGCTTTTTGTTGTTTTTTGTTTGTTTGTTTGTTTTTTGAAATGGAATCACGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCCCACTGCAAACTCTGCCCCCTGGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAAACAGGGTTTCACCATGTTGACCAGGCTGGTCTCGAACCCCTGAACTTAAGTGATCCGCCCGCCTCGGCCTCTCAAAGTGCTAGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCAATATTTTGTCGAATGAATGTTCATCCCGTCTCAGGCTGGGTCCCCCCAGAAGCAAACCCTGAGACAAGGAGGTGATGTGAGGGGTTTATTCGGGAAGTGACTCCAGGATGCTGCAGAAGGGGAGTGGGGAGGAATAAAGGAGGGGACAGCAGCTGACACAGGGCAGGTGGTTGAGTTGTCATGGCTGTGGACTGCTGCTGCTCTCAGTCCTGCTGGGGCCACCTGGGAGACAGAACGGACCGTGCTCAGGGCGTCCCCAGAGAAGGCAGGAAGCTAGGGTGCTGTCATTCATCTCCCATCTTCCAGGGAAAGAGGGCTGCTTCCGGGGCCTTTCAGCCCACCCCAGAGTGTGCGTGAAAGCTGTTAGTCACTGGCCATGGGAAGGGCCACGGCAAACGGTAGAAAGACACATGCTGCCGAGGAGATGGTGTGAGGCACTGACCTTGACTCCCAATGTCTCCCGCCAGACCCAGAGAGCCCTGCAGGGCCATCGAACGAGCCTCCAGATGCACTTGCTAGGCACCTACTATGCATCGGGTGCAGAGCCAGCGCTGGGGCCACCAAGGAGTACATGCCTGATCCTGCCCCCACAGCTGGCGGAAGGCCAGACACGGGGTGAGGGGCCTGACAAATATCAGAGACGGGGAAGCCCAACGAATGCTGGGAGGGCCATCCCAGGGCTCCAAGCTCGGAATAGGGGAGGTTTTGCAAGCCAGTTCTTGCTACACACATCCCCGCGAGGAAGGTGCTGGCTACCCACGCTGTGGAAGGGAAAACTTGGCTCAGAGAGATGCAGTGACTTGCCCAAGGCCACACAGCCAGTGAGTGACCCAACTAGGTAAGAAACCAGAAACCAGTGACCACGACCAGTGCTCACTGCCCCAGGCCACAGCTGTGCCTCCGGGAATGCCCTCACCGCCTGCCCCTGAGGGTTAGGGAATCACTGTCACTTTTCCCGCTGTGGTCCCCCACACAGGCCCTGACCTGGTCCACTGAGACCTCCGGCTCCTCTGACTTCTCCTCCTACTCCTCCCCTCGCACACCAGCCAAGCCGTTTCCCGGGAAAGGCTCACACTGCCCACCTCCCTGTGCTGGTCCACACAAAGCCCCTGCCCAGAATGTCCTTCCCACCTTAGCTGTCCATATGTTCTCACCAACCTGGTCTCTGGCCCCCACACCCTCCAGGCTGCCCAGCCCTCCAAGCCTTTGATCCTGTCTGTATCTCCCTCTGGAATACGCTTCCAGCCCCATTTCACTCCCAACTTCTATTCATGCTTCAAAACCCTGCCCAGACAAGTCCTCCTCTCTGGCGGAGCTTC
CCACTTGTCCTCCAAGCAACCACAGCACCCCCACTCAATCTCTGCTTCTGTCTGCTCAAAGCACACCTCCTTATTTTCAGTATCTATTAATAGATACTACTCATACTACTAGGACGACTACTACTAACACAGAGTGCTTCTCACACACAGGTGCTGCCCTGGCAGCTCCACCTGGAATAAGTTACTGAATTCCCCCAACCACCCCAGGAGGCAGGAGCTATCACTATCCCATGCTTTTCTGATAAGGAAACACAGGCAGAGAGAGGCTACGTGACTCGCCCAAGGTCACACAGCAAGTGCACAGCACAGCTGAGTTCAAACTGCACAGCCTGGCCCTGCAGCCCGTGTTTACAATCACACCACGAGGCCAAGTCAGGGCCTCCCCTGCAGCCAGATCGCCCCTCTGAGCCCGAGGCCCATACCAATCTCCTTGGCCAGTGCCAGGCCCTGCGGGTAGGTGATGGGAGCCAGCTTCTTCTCCTTCAGTTTCTCGATGGTGTCCTTGTCGTCCCGCAGGTCCAGCTTGGTGCCCACCAGGATGATGGGTGTGCTGGGGCAGTGGTGCCGCACTTCTGGGAACCACTGGGCAGGTGGGTGGGGGGACACAAGGTTGTATGGGTCAAGAGGGGGCGCGAGGCTGTGCGGGGATCAGAGGGAGTGTGAGGGTGTAGGGAGAGGAGAGGCAGCAAGTTGCCAGAAGATCAGAGGTGGGCACGACGGTGAGGAGAGAGAGACGTGAGGTGGCACAGGGAGGGGAGGCCACGACGTTGTGCAGGAAGGAGGGGGCGCATGATTGTAGGAAAGGAGGAGGCGAGGTTTTGTGCAGACATAAGAAGCAAACATGAGGTTATGTGACAATCGGAGGCGGACATGAGGTTGTGTGGGGAGGAGGAGAATGCAGCCATGGAAAGTGGGGGTATAGCTAACTATCGCAGCACCCCCCACCCCAGGTCCTCTGAATCTTACCCCCTCAAGTCCCTCTGCCAGCCCTGGTTGGCACTGGGGACCCTCTCTGTATGCGACCTCTGCTGCCCCAGGGACCAGCCTAGAGTCACCAGTTCCTCCCTCTGTCCCTCAGGGTTACCTGCCCCAGAGCCCCCAAGGCCCACCCTGTCCAGCTCACCTTGGCGCGGACGTTCTCATAAGAGGCTGGGCTGACGAGGGAGAAGCAGATGAGGAAGACGTCCTGGGGACAGAGCAAGCGAGGTTGCTAGTGAGGAGGGCCCAGAGGTGTCCCACCATGGCAGCCACCGAGAGGTGGAGCTTGGGGCTCCCTGAGGGTGGAACACCCCAGGGAATGCTGGGGACTTAGGATCTGGGCAGAGCAGAGATACCCTTCTCGCCTCTACCACGAGGCTGCTGTTTGTTAGGACGCTCACTAAAGGCCAGGGCCTCTGCGAAGTGGTTATCCTCACATGTCACTCTGCAGCAAGCACTGCTGGTAGCCCCATTCCTCAGACAGGGAAAGTGAGGCTTCCAGAGGTTAAAGAGTTTGCCAACGTGCACTCTGGTGAGGGGAGGATCTGGGATTCTAGAGTCCATACTCCAATCCATATACTATCCACCATCTGATTACCGGCCTTAGCCGCCTCCCTGCATACCCTGGAGGAAGGGCGAGGACCCAGCAGCCACCTGCAGGCATCCTCCACCTCTCCCCTCCCCCAGCACTCCCAGGGCTCACCATGCTGGGCTGCCTCCTGGGGCCCTGTGCAGAATCCACCTGCCCCACCACTGGAAACAGGGGGTGCCAGAGCCCAGGAGGCAATGGGGTGGGAAGATGGGCACATTGAGGACCGGGAACCAATGCAGGGCTGAGGGAGTGCAAGAGGAAGCCCTTCTCTGCCTGGGACATGCAAGGCAGGCAGACTCCCTGAGCTGGGCCTTAAGGGGAGAGGTAGGGTTTCCCAGGCTGAGCTGGCTGGAAGGGCATCCCAAGCAGAGGGAACAGAGACAGCAAAGGTCAGGACTGCAAGGCAGGTGGGAGCAGCACACCGTCTGTGGATAGGAGAGCGGCCGGAGACGGTCGTAGTCCTCCTGCCCAGCAGTGTTCCACAGCCCCAGGTTCACTGGCTTGCTGTCCACCATCACATTGGCTGAATAGTTGTCAAACCTGTGGGGAGCAGGCAAGGCGGAGGTAAGGTCAATCTCAAACCCCAGAACCTGGGAATTGTGGTCCAGCTCCATGTCATTCCTCGGAGGCTGAGACCTAGAGACAGTCTGCGACTGGCCCAAAGTCACACAGCATTTGCAATTGGGTTTCTTTATTTGTTTCATTACTGATTCATTATATTTTTTAAAAATGTAATACAAGTTAACAAGAAGAAAAAAAGATTGTCTCTTAATCCTTTTCCTACCCGTACCTGTCCTTTGGAAAGGTAATTGAGGCTGTGTAACTTTTCCTCCCAGTCTTGATGAGAATAAACTTACCTCTCTCCCTATGCTGCCACTCAATGTTTGCTTTTTGTTGTTTTTTGTTTGTTTGTTTGTTTTTTGAAATGGAATCACGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCCCACTGCAAACTCTGCCCCCTGGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAAACAGGGTTTCACCATGTTGACCAGGCTGGTCTCGAACCCCTGAACTTAAGTGATCCGCCCGCCTCGGCCTCTCAAAGTGCTAGGATTACAGGCGTGAGCCACTGCGCCCAGCCGCAATATTTTGTCGAATGAATGTTCATCCCGTCTCAGGCTGGGTCCCCCCAGAAGCAAACCCTGAGACAAGGAGGTGATGTGAGGGGTTTATTCGGGAAGTGACTCCAGGATGCTGCAGAAGGGGAGTGGGGAGGAATAAAGGAGGGGACAGCAGCTGACACAGGGCAGGTGGTTGAGTTGTCATGGCTGTGGACTGCTGCTGCTCTCAGTCCTGCTGGGGCCACCTGGGAGACAGAACGGACCGTGCTCAGGGCGTCCCCAGAGAAGGCAGGAAGCTAGGGTGCTGTCATTCATCTCCCATCTTCCAGGGAAAGAGGGCTGCTTCCGGGGCCTTTCAGCCCACCCCAGAGTGTGCGTGAAAGCTGTTAGTCACTGGCCATGGGAAGGGCCACGGCAAACGGTAGAAAGACACATGCTGCCGAGGAGATGGTGTGAGGCACTGACCTTGACTCCCAATGTCTCCCGCCAGACCCAGAGAGCCCTGCAGGGCCATCGAACGAGCCTCCAGATGCACTTGCTAGGCACCTACTATGCATCGGGTGCAGAGCCAGCGCTGGGGCCACCAAGGAGTACATGCCTGATCCTGCCCCCACAGCTGGCGGAAGGCCAGACACGGGGTGAGGGGCCTGACAAATATCAGAGACGGGGAAGCCCAACGAATGCTGGGAGGGCCATCCCAGGGCTCCAAGCTCGGAATAGGGGAGGTTTTGCAAGCCAGTTCTTGCTACACACATCCCCGCGAGGAAGGTGCTGGCTACCCACGCTGTGGAAGGGAAAACTTGGCTCAGAGAGATGCAGTGACTTGCCCAAGGCCACACAGCCAGTGAGTGACCCAACTAGGTAAGAAACCAGAAACCAGTGACCACGACCAGTGCTCACTGCCCCAGGCCACAGCTGTGCCTCCGGGAATGCCCTCACCGCCTGCCCCTGAGGGTTAGGGAATCACTGTCACTTTTCCCGCTGTGGTCCCCCACACAGGCCCTGACCTGGTCCACTGAGACCTCCGGCTCCTCTGACTTCTCCTCCTACTCCTCCCCTCGCACACCAGCCAAGCCGTTTCCCGGGAAAGGCTCACACTGCCCACCTCCCTGTGCTGGTCCACACAAAGCCCCTGCCCAGAATGTCCTTCCCACCTTAGCTGTCCATATGTTCTCACCAACCTGGTCTCTGGCCCCCACACCCTCCAGGCTGCCCAGCCCTCCAAGCCTTTGATCCTGTCTGTATCTCCCTCTGGAATACGCTTCCAGCCCCATTTCACTCCCAACTTCTATTCATGCTTCAAAACCCTGCCCAGACAAGTCCTCCTCTCTGGCGGAGCTTC
Task1_train_28775
With a mutation on Chromosome 22 in gene RAC2 (Rac family small GTPase 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
CACCTGGCCATAACCTGGCCTCAGCAGCCTCAGCCATCCATCTCAACGTACAAGGGAGGTGCCTGGGGAAGGAGCTTGGGACTTCCAAGCCTCTACCTCTTATAGAAAAGGAGATTGAGGCTCAGAGAGGGGAAGTGATTGGTCCAAGGTCCTTCAGCAAGTGGGTCCTTCAACTCAGCCAAGATGCACAAAGGCGGGACAAGGTCTCAAGCCAGCATCCAGAGACCCAGGGACAGAGGCAGTGACAACACACTGCTGGTGACCATGGCCTTGAGCAGGAGCTGCCTCACCTAATTCTCCCTCCCTGCTCAGGTTTGCAGCCAGCCCTCCCTTGGCACTTAGAGGCACCTGATAAACGTTTGATAGTTGATGGTGAGTGGGCAGGAATCCTTGTTCCCATTTTGTATATAAGGACAGGACCAGAGAGGGGCACTCACCAGCATCAGGACCGAGCTGGGGCAAAAGCGGCTTTCTAGGCTCTCTGCTAGGGTTTCCCTGCCCTCTCCTGGCTGCCTGCCTTCCTCTAGCCTGGGCCAGGGCATCTAAGGCAGCTGAGCAGAGTGTCCCGGGGAGAGACAGCAGCAGAGAGAGCCCAGCCCACCCAAGTCTGGGGTTGGGGGTTGGGTAGTGAGGAATCCTCTGGGGTGGGTTGGAAGCATCTCGGCTCCAGGCTCTCTTCTCCCTTCTGCCTGCCCTCCTCTTCCTAGGAGAGCCTGATCCCTGCCCCTGAAAGGGGGGTTCATTAAGATCAAGAAATGAGGGCCCCCGCGAGGTTCTGCATGGACCTTGGCTCTGAAGCTGGACAGGACCGTGTAAGCCTGGGAGGCAAGCCTCTTAGTGGCTGTGAGGCTCAGCTTCCCCATGGGTGTCCTGTGCATGCTAATAGCCATCTCCCAGGGGGATCAAATGAGATCACACATGTGTGACATCTTGCGCAGGGGCCAGCATGTGGCAGGCCTTTGCTAGATGGTGGCTATGATCGATCTTCCTGTGGTCCTTCCCACGATGTCCAAGTCAGGTCAACTCAAAACACATGTGTTGTGTGTAAGGTAATGCATGTGTCATACCATGTAGAAGACACTGTGCTGAGATAATGGGAGACCCACAAAGAGCTGGCCATGGCTCCCTGCCCTCCACAGGCTCATAGTCATGGGAGAGATCAGATAAAGTCACTCTGGGGAGTGGAGACCCCTTCGTGGTAGATCAGAAAGGCTTCCCGGAGGAGGGGGCACTGGAGCTGCGCCTGGAGGCTTTAGACAGGTGGATGTGGGGAGAAAAAGCACTATGGGGAGAGAGAACAGCTTGAGCAAAGGCCCTGGGGTAGAAATGTGCAGGGAGCTTGTGGCGAACAGTAGGGTCCGGAGGAGGCAGAGTGTGAAGCAAAGTAATGGGTAATAAGGCCAGGTGGGAGGTTGAGTGAAGGCCATCAGGAGCCTTGAGTGCCATGCTAGGGAGTCGGGGAAATGTCCTAGGAGTGATGGGGACCCCTGAGGGCTGGCCAGGGAGGGGCTGGTGCCTCCCCAGTCATCCTTCCCTCCTGAGTCTGACACCAACACGCTCCCTCCACGTCCGATGACAGCCCTGCCTCCGCATCCTGCAATAGAGCGCAGGGCCTCCCAGGCCTGCAGACAGCTCTGTTCCACCCCTCAGCATGCCTTGTCCCCAGGTGTCCCTGTTCCTTGGAGTCAGGCTCTCTGGATCACCTCCTCCAGCAGCCTGCTTCCGCAGAAGCTCCTCTCCCAGCTCCTGCTCTTGCCTGAGCCAGCCTTCTCCTCCACGTCCCTTTGCTTGGAGGCCCAGCCTAAAGGCCACCCCTCCTCCCTTCTACCCCTTCCTCCATACCCCATCCCGGGTTCTGGGAGCCCCCAGCACCTCTCAGCGCCAGTGCTGCCTTCTTGGCTGGACTGTCAGGCAGCTCCACTGGGCTGGAGGCTGTGGGTGCCCACACAGGGTCTGGCCCACAGGAAGTGCCTGAAAGGGGGGTCGACTTGGTGACGGTCTCTCCCCTCCTCCCACCACCCCACATATCCCCAGGAACTCACACGGTGGGGATGTACTCTCCGGGAAAGGCGTTGGTGGTGTAGCTGATGAGAAGGCAGGTCTTGCCCACGGCCCTGAAAGACAGGAAGTGCAAGAGGGCGGCGGTCATGGGCTCTGCCGGAGACGTGGGGAGGTTTCTGCCTGGTCCTCTGCAAAGACCTCAGCATCCACCCAGCCTAGCCCTCTGGGCCTCCGTCTCCCCATGTGAGATGCCCCCTGTCTGTGTTCTCACACCCGAGAGCCTGCAAGTCATGTGGATGTTTGTTAAAGTGGAGACTTCAGGGTCCAGCCCCAGAGATTCTGATCCACAGGTGTGCGCAGAGCTGGCAATCCGCTTTTCCCACAGGCTTCTCCAGGGGCCAGTGATGTGGGACAGAGGGTGCCCAGCAGACCCAGGCAATGCCGAGGGGCCCCCGACGCCTGACCTGGGCTTCAAATCCCAGCTGTACCACCTACCAGTGGTATGATCTTGGACAAGTCACTTAACCTGCCTCTGCCTCAGTTTCTCCATCTAGAAAATAGAGATGAGCCCATCCTCATAGGAGTGTGCTGAGGAGTAAATCCAACGAGGCCTATCAAAGCACTGAGCACAGGGCCTGATGCATGGCAGCAGCCGATGGCTGCTAGGGAAGACCTGACCCTGCTCTTCCCTCTCACCTCCCCCGTGGAGCAGAGCAGTTACCAGGTCAGGGTTTGAGTCAGAGTGGTCTGGGTTCAAATCCTGTGAGGCTTTGGGCAAATTACTTAGCTTCCCTGAACTTTCATTTTCCCACCTGTAAAATGGACCTATTAGGTTTGGTGAGAGGATAAATAGAGAAGGCTAGATTAACCCCAGAGCTGGTACATAGGAAGGAAGTGATAACGCGCGCCTCCTCCACCCTCAGCATGCGAGGCTGGGAGCGGGTGCAGGTAGCTCAGCCGAAGCCCAGAGGCCAAGGGACAGCTCTGGGCCTTCCCCTGCCCTGCGTGGTTTTGTCACTTCCTGCTCAGAGAAGACAGCTCATCCTCTCCTCCTACCATCGCCCTCCCCTGGGCCTGCCACCGAGGTAATTTTGAATGACTGGAACGTTAACCCTTGACTTCCGCCCGCCCCTCCTCCGATCAGATACAAAGCAGAAGTGAACAGGGCTGGGGCAGGCGAGGGCAGATAAGGAGCCATGCATCAGAATCAGCTGAGGCTGGTGGACAAATGGGCCCGCCCCCACCTAGATGGGTCACAGCCAAAGTCGGGGCCACAGGGCCCAGGCCAGGAGAGCTGAGTCTCTCAAAGCCTTGGGCTGCTCCTCTGTAGAATGGGAAGGCTGGACAGGAGGCCCCCTTCCAGCTAGAACATGCTCCAGGGTGAGCCTGTAGGCTGGACCCTAAGATGTGGCTGCTGGCAGGCATGACAGATTGACAAATTGGACCTGTCCTTTTATTTTGTGTTTTTTTAAGAGACAGCGTCTTGCTCTGTCACCCAGGCTGACTGCAGTGGCACCATTATAGCTCACTGCAGCCTCAAACTCCCGGGCTCAGGCGATTCTCCCACCTCAGCCTCCCCAGTAGCTGGGACTGCAGGCGCATATGCCACCACTCCTGGCTTAAAAAAATTTTTTTATAGACATAGGTTCTCGCTATGATGCTTAGGCTGGTCTCAAGCTCCTGGCCTCAAGCAATCCTCCCATCTTGGCCTCTCAAAATGCTAGGACTACAGGCATGAGCCACTGCACCTGGCCTGGACCTGTCATTTTACAGATGAGGAAACTGAGGCCCCCAGGGGACAAGACAGCCTGAAGTCACTGGGATCTGACAACTGAGAAGGGTCTCAGCCCAGCCTGCCCCTCCCCTGCCGACCCCACAATCACCCTCCCATCCTTTAGCCTCCTCCTTCCCTCTCTGTCTCTCAATGTCCCCTTGCCTCTTCTGCTCCTCACCCACATCCCCCACACATCCTCCCCAACCCGGTAGGCTGAGGGGAGGGGAGAGAAAGTGGAGGGGGTGCTAGAAGGCACATACTACAAGCAAGACAGCCACTCAGCTTATCTCAAGCGACCCCACAGCATCCCCAGGGCATAGG
CACCTGGCCATAACCTGGCCTCAGCAGCCTCAGCCATCCATCTCAACGTACAAGGGAGGTGCCTGGGGAAGGAGCTTGGGACTTCCAAGCCTCTACCTCTTATAGAAAAGGAGATTGAGGCTCAGAGAGGGGAAGTGATTGGTCCAAGGTCCTTCAGCAAGTGGGTCCTTCAACTCAGCCAAGATGCACAAAGGCGGGACAAGGTCTCAAGCCAGCATCCAGAGACCCAGGGACAGAGGCAGTGACAACACACTGCTGGTGACCATGGCCTTGAGCAGGAGCTGCCTCACCTAATTCTCCCTCCCTGCTCAGGTTTGCAGCCAGCCCTCCCTTGGCACTTAGAGGCACCTGATAAACGTTTGATAGTTGATGGTGAGTGGGCAGGAATCCTTGTTCCCATTTTGTATATAAGGACAGGACCAGAGAGGGGCACTCACCAGCATCAGGACCGAGCTGGGGCAAAAGCGGCTTTCTAGGCTCTCTGCTAGGGTTTCCCTGCCCTCTCCTGGCTGCCTGCCTTCCTCTAGCCTGGGCCAGGGCATCTAAGGCAGCTGAGCAGAGTGTCCCGGGGAGAGACAGCAGCAGAGAGAGCCCAGCCCACCCAAGTCTGGGGTTGGGGGTTGGGTAGTGAGGAATCCTCTGGGGTGGGTTGGAAGCATCTCGGCTCCAGGCTCTCTTCTCCCTTCTGCCTGCCCTCCTCTTCCTAGGAGAGCCTGATCCCTGCCCCTGAAAGGGGGGTTCATTAAGATCAAGAAATGAGGGCCCCCGCGAGGTTCTGCATGGACCTTGGCTCTGAAGCTGGACAGGACCGTGTAAGCCTGGGAGGCAAGCCTCTTAGTGGCTGTGAGGCTCAGCTTCCCCATGGGTGTCCTGTGCATGCTAATAGCCATCTCCCAGGGGGATCAAATGAGATCACACATGTGTGACATCTTGCGCAGGGGCCAGCATGTGGCAGGCCTTTGCTAGATGGTGGCTATGATCGATCTTCCTGTGGTCCTTCCCACGATGTCCAAGTCAGGTCAACTCAAAACACATGTGTTGTGTGTAAGGTAATGCATGTGTCATACCATGTAGAAGACACTGTGCTGAGATAATGGGAGACCCACAAAGAGCTGGCCATGGCTCCCTGCCCTCCACAGGCTCATAGTCATGGGAGAGATCAGATAAAGTCACTCTGGGGAGTGGAGACCCCTTCGTGGTAGATCAGAAAGGCTTCCCGGAGGAGGGGGCACTGGAGCTGCGCCTGGAGGCTTTAGACAGGTGGATGTGGGGAGAAAAAGCACTATGGGGAGAGAGAACAGCTTGAGCAAAGGCCCTGGGGTAGAAATGTGCAGGGAGCTTGTGGCGAACAGTAGGGTCCGGAGGAGGCAGAGTGTGAAGCAAAGTAATGGGTAATAAGGCCAGGTGGGAGGTTGAGTGAAGGCCATCAGGAGCCTTGAGTGCCATGCTAGGGAGTCGGGGAAATGTCCTAGGAGTGATGGGGACCCCTGAGGGCTGGCCAGGGAGGGGCTGGTGCCTCCCCAGTCATCCTTCCCTCCTGAGTCTGACACCAACACGCTCCCTCCACGTCCGATGACAGCCCTGCCTCCGCATCCTGCAATAGAGCGCAGGGCCTCCCAGGCCTGCAGACAGCTCTGTTCCACCCCTCAGCATGCCTTGTCCCCAGGTGTCCCTGTTCCTTGGAGTCAGGCTCTCTGGATCACCTCCTCCAGCAGCCTGCTTCCGCAGAAGCTCCTCTCCCAGCTCCTGCTCTTGCCTGAGCCAGCCTTCTCCTCCACGTCCCTTTGCTTGGAGGCCCAGCCTAAAGGCCACCCCTCCTCCCTTCTACCCCTTCCTCCATACCCCATCCCGGGTTCTGGGAGCCCCCAGCACCTCTCAGCGCCAGTGCTGCCTTCTTGGCTGGACTGTCAGGCAGCTCCACTGGGCTGGAGGCTGTGGGTGCCCACACAGGGTCTGGCCCACAGGAAGTGCCTGAAAGGGGGGTCGACTTGGTGACGGTCTCTCCCCTCCTCCCACCACCCCACATATCCCCAGGAACTCACACGGTGTGGATGTACTCTCCGGGAAAGGCGTTGGTGGTGTAGCTGATGAGAAGGCAGGTCTTGCCCACGGCCCTGAAAGACAGGAAGTGCAAGAGGGCGGCGGTCATGGGCTCTGCCGGAGACGTGGGGAGGTTTCTGCCTGGTCCTCTGCAAAGACCTCAGCATCCACCCAGCCTAGCCCTCTGGGCCTCCGTCTCCCCATGTGAGATGCCCCCTGTCTGTGTTCTCACACCCGAGAGCCTGCAAGTCATGTGGATGTTTGTTAAAGTGGAGACTTCAGGGTCCAGCCCCAGAGATTCTGATCCACAGGTGTGCGCAGAGCTGGCAATCCGCTTTTCCCACAGGCTTCTCCAGGGGCCAGTGATGTGGGACAGAGGGTGCCCAGCAGACCCAGGCAATGCCGAGGGGCCCCCGACGCCTGACCTGGGCTTCAAATCCCAGCTGTACCACCTACCAGTGGTATGATCTTGGACAAGTCACTTAACCTGCCTCTGCCTCAGTTTCTCCATCTAGAAAATAGAGATGAGCCCATCCTCATAGGAGTGTGCTGAGGAGTAAATCCAACGAGGCCTATCAAAGCACTGAGCACAGGGCCTGATGCATGGCAGCAGCCGATGGCTGCTAGGGAAGACCTGACCCTGCTCTTCCCTCTCACCTCCCCCGTGGAGCAGAGCAGTTACCAGGTCAGGGTTTGAGTCAGAGTGGTCTGGGTTCAAATCCTGTGAGGCTTTGGGCAAATTACTTAGCTTCCCTGAACTTTCATTTTCCCACCTGTAAAATGGACCTATTAGGTTTGGTGAGAGGATAAATAGAGAAGGCTAGATTAACCCCAGAGCTGGTACATAGGAAGGAAGTGATAACGCGCGCCTCCTCCACCCTCAGCATGCGAGGCTGGGAGCGGGTGCAGGTAGCTCAGCCGAAGCCCAGAGGCCAAGGGACAGCTCTGGGCCTTCCCCTGCCCTGCGTGGTTTTGTCACTTCCTGCTCAGAGAAGACAGCTCATCCTCTCCTCCTACCATCGCCCTCCCCTGGGCCTGCCACCGAGGTAATTTTGAATGACTGGAACGTTAACCCTTGACTTCCGCCCGCCCCTCCTCCGATCAGATACAAAGCAGAAGTGAACAGGGCTGGGGCAGGCGAGGGCAGATAAGGAGCCATGCATCAGAATCAGCTGAGGCTGGTGGACAAATGGGCCCGCCCCCACCTAGATGGGTCACAGCCAAAGTCGGGGCCACAGGGCCCAGGCCAGGAGAGCTGAGTCTCTCAAAGCCTTGGGCTGCTCCTCTGTAGAATGGGAAGGCTGGACAGGAGGCCCCCTTCCAGCTAGAACATGCTCCAGGGTGAGCCTGTAGGCTGGACCCTAAGATGTGGCTGCTGGCAGGCATGACAGATTGACAAATTGGACCTGTCCTTTTATTTTGTGTTTTTTTAAGAGACAGCGTCTTGCTCTGTCACCCAGGCTGACTGCAGTGGCACCATTATAGCTCACTGCAGCCTCAAACTCCCGGGCTCAGGCGATTCTCCCACCTCAGCCTCCCCAGTAGCTGGGACTGCAGGCGCATATGCCACCACTCCTGGCTTAAAAAAATTTTTTTATAGACATAGGTTCTCGCTATGATGCTTAGGCTGGTCTCAAGCTCCTGGCCTCAAGCAATCCTCCCATCTTGGCCTCTCAAAATGCTAGGACTACAGGCATGAGCCACTGCACCTGGCCTGGACCTGTCATTTTACAGATGAGGAAACTGAGGCCCCCAGGGGACAAGACAGCCTGAAGTCACTGGGATCTGACAACTGAGAAGGGTCTCAGCCCAGCCTGCCCCTCCCCTGCCGACCCCACAATCACCCTCCCATCCTTTAGCCTCCTCCTTCCCTCTCTGTCTCTCAATGTCCCCTTGCCTCTTCTGCTCCTCACCCACATCCCCCACACATCCTCCCCAACCCGGTAGGCTGAGGGGAGGGGAGAGAAAGTGGAGGGGGTGCTAGAAGGCACATACTACAAGCAAGACAGCCACTCAGCTTATCTCAAGCGACCCCACAGCATCCCCAGGGCATAGG
Task1_train_28776
Here is a genetic alteration in CARD10 (caspase recruitment domain family member 10) on Chromosome 22. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Immunodeficiency 89 and autoimmunity
ATTGATCTCCTTTTCACTGTCTGTGGCTTCCTCCTGCAATGCCATGACAGGGCCTGGGTCACCCCCACTGCCCAGCACCATCCCAGTCCTCAGCACACCTGGTTTGTGCCCATTCCACAAATGAGAAGTAGGGCCCAGAGCAGAAGAGCGGGCTCTGCAAGATTATAGTGTGCGGGTGGCTCCCCACGCCTCCTGGCACCTATGCCTGGCAAGGAAATGGTTCTGGGTGAGCTTCAGTAAAGTACTTGGCCTCCCTGCGCCTCAGTGTCCTCACCTGTGAAATGGATCCTTCAGAAAGCACTCTCCACATTAGTAATAATGCTATAGCAGTGTCCCCCCTTATTTGGGATGGGGCAGTTGTCTTACCGAGTTGTGAGGCTCAGGTCCCCCCATGACAGCTGCCTCCCCAGTTGCTTCTGGGCCTCCCAGAGGGGAGGGGAACTCGCTCAGGCTCCAAGTGCTGCTGAGGTTGGAGCACAGGGAATGGGAGGAGGCACAGGCCTGGAAGAGGGAGAGGAGAGGAAGGAGGTGAGCAGTGCTAGGCCCACGTCAACCACAGTCCTTTACTGAGCACCTGCCATGTGCCAGCACAGGGACAGATCCCTGTCCTCAGGGAGCTCACAGCCTAGAATGGGAGATAAACTGTAAACCAGCAGACATGTGAACAAAATAGCCCCAAGCTGAGACAATAGCAGAAGGAAGGTGCCCAGGGCATGGAAAACACACAAAGACCCCACCCAGCCTGGGAGTCCAAGTACTCTCCAAAGAAACTGTGGTTTGAACTGAGAACTCAAGGGTATAGAGGCGCTAAGTAGGTCAAGCTGGGATGGTCCAGGCAGATCAACAGCATGTGCAAAGGCCCTGAGGCAGGACTGTGATGCATTCCAGTTGAAAGACTGGAACCCACAGAACCAGGCGAGAGGACAAGAGGAACCCCACCCGCAGGGCCTCTTGGCCATGAAAAGGGACTCTGTCTTTACCAAACAGCAAAAAAGCCACTGGGGGTTAAAAAAAAAAAAAAGTCTTGGATTAATGCTGACTTTTCCTATATTCCTCCAGGCCCCAGTGCTTCAAACACCAGGCCTGCGGAGCTCACTGTCAGGCAACTCAAAATAAGAAAACGCAGGCTGGGCGTTCGCACCTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATCCCTTGAGGTCAGGAGTTTGAAACCAGCCTGGCCAACATGGTGAAACCCCCATCCCTACTGAAAATACAAAAAAAAACTTAGCTGGGTATGGTGGCAGGCACCTGTAGTCCCAGCTACTAGGGAGGCTAAGGCACGAGAATAACTTGAACCTGGGATCCAGCCTGGGTGATACAGCAAGATTCTGTCTCAAAAAAAAAAAAAAAAGGAAAAAGCAGAGCTCCCGGCAGCAGCCTGAGGACCACGATCCAATTTACAGTGGGTCTGGGACTCCAGCTCCAGTGCTAGCTGGCTGTGTGGCCTTGGGCAAGCCCCTCACCCTCTCTGGGCCCTGTGCGATGAGAGGATTAGACCAGCTGGTCTCTGAGGGATGCTTAGGCCCATGTTAGTCCTGACTAGCTGGTCTCTGAGGCCCAGGTTTTGCATTCTAACATGCACACAGGCACTCAGGCAGCCAGCCTTCCCCAGTTAAATGCAAAGACCAGCTCCAAACTATTCTTAGTGTCCCAGAAGCAACCCCAGAAACTCAGAGACCAACATGCCCCTCCGCCTGCTCACCAGCCCACACCCAGCCCAGCCTGGGTTCAAGTTCCCGCCCCTAACTGAGGACTCTTCCCACTTCCCCCAAGCTTCCTCCCCTGGCTGAGGTCTCCCACCAGGGCCGGCACGTTCCCAGCCCTGGCCAAGAGCTCCTGCCAGGACCCCAGCCTTCCTGCCAGGACCTCCACAATCTTGACCCGCTCACCTTGAGGCAGGTGCCACCCTGGGCCCGCTGCAGCTGAACCTCCAGCAGAGCCTTGGTGCCCTCCAGGCTGGTGAGCGTTGTCAGCAGCTCATCCCGCTCCGCCTCCAGGCCCCGCACCTGCTTGCGGTACTGGTCCTTCTCGATGAGGCTCTGTGAGTACTGCAACTGGATCCGGTCACGGCTCTGGATGGCCTAGGGTTGGGGGAGGGGAGGCAGCAGCTGAAGGAGCCACCTTGGCCCAGCTTTCCTGGCCTATGACTTGGAGAATGGGGACAGTAAGGAGAATGGCAGCTATCACTTACTGAGCACTGTGTGCCGGGCCCTGAGCTAAATTATCAGCTCATTTAAATATCTTCACACTAACTGGCTAAGTTAGATACTATTAATATCATTATTCTCATTCTGCAGACTGGGGAAACCAAGCCAGGAGCGACAGAGCTGGGATTCAAATCGGGCAGTCCATCTGCAGAATCCAGGCTCTCACCATTTCACCAAGAACTGAAAACTTTTCCACGAGACCTGCTGTGTGCCAGGGGCTTCACTCCCAGCATCCCAGTCAGTGGAGAAGCCAGGAGTCAAACCCAGCCCACTGCATCCACAGTGAAGACCAGGGGCTCCAGAGCTGGGCCCATGGTCCAGACCTGTCACCCATGCCTCAGAGAGAGCCGGGGGCAGCCCCATAAAATGCAGATTCCTGGGGCCCACCCCAGACCACCTGAATCAGAACGTCCAGAGAATGAAGCCCCAAATTTGCACTTTCAAGCTTGCCAGGGGATTCTGAGGGCATTTCTAATATGCAGACTTCGGCTGGGCATGGGAGCTCATGCCTTTGATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCAGTTGAGCCCAGGAGTTCAAGACCAGCCTGGTCAATATAGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCCAGGAATGGTGGCATGCCTGTAATACCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAATCTGGGAGGCCTCAGTGAGCTGAGATTGCACCACTGCACTCCAACCTGGGCAACAGAGCTAGATTCAGTCTCAAAAAGTAATAACAACAATAATATACAGACTTCAACTCCTCTAGTGGGATTCACACCTGGTTAAGGACAAAAACCTCCTGCCCTTCCCCGCTGCAGATGGAACCTCACACAAGGAGGCTCGGGGGCCTGGTGGCACTGGCCGGAGGTCCTCAGCCCACCCCACAACCTTGGCAGGAGACAAGGGTCATAGTGCCCAGGGACTGAAAGCCAAAACTTTTGAGAATTTCTTCATCGGCTTCTATTTGTAAGCACTCCCTCTGTGCTGGCCTTGTCTTTGAGATGGACAGAACAAGGGATTCAAAAATGAAGACACCAGGACCAGCTTCTGTAACTGCCACAGGAGCTCAGATGAGGCCAGTGGGTCCAGGGTGTAAGGCTGGTATCTCAAGGGCTCCAGGTCTCCTGTCTGGTTCCCCCAGCCTTTGTGCCCCGTCCTAACCCAACAGGGAGCGGCTAACGTCTCTTTCTACCATTCTAGTCCCCTCCATTGCTCCTTGTCTCCTCCCATATGGGAAGCAGCAACTGGCCCAGGGCCTCGTACACGCAGGCTGGGCTCACCTGGTCTCGCTCCTTCTCAATCTCCTCCAGTTGGGCCAGGACAGTGGCCATGCGGTGCTTGTACAGGTCACAGTCCTTCTGCAGCGTGCGGTGCTTGAGCCGCAGGTCTTCCATCTCCTGCAGGTACTGAGGGTGGCACGGGGCGGGGTCAGACCACAGGGCTGGGGACCATGAGAAAGCTAACCAGCAGGTGCCCAGGAGGGCCAGTGAGAGACGCTCACCAACAGTCTGAGACCCAATAACAAGTCCCCTCCTGCCCAGTGGAGTGGTCTGAGCCACTGACTTTACCTCACAGGCCCTCAACTGCCTAATCTGTAAAACGAGAAGAATGATCATCATTTCACCCATCCGGCCACCCTTGGCCTCCCCACTCAAACTGCAACCGGCCCCTTCCCCAGCTCTGCATCTCCCACGGTGCTCATCGCCTTTGACTACATGAAATAGCTGACGTGGGACTGTGTATCTCACATACTGCCAGTCTCCCCTGCTGGAGTTCCCCCTCAAGGAAAAGGCACCTTTGTTTTGCTCACTGCGGC
ATTGATCTCCTTTTCACTGTCTGTGGCTTCCTCCTGCAATGCCATGACAGGGCCTGGGTCACCCCCACTGCCCAGCACCATCCCAGTCCTCAGCACACCTGGTTTGTGCCCATTCCACAAATGAGAAGTAGGGCCCAGAGCAGAAGAGCGGGCTCTGCAAGATTATAGTGTGCGGGTGGCTCCCCACGCCTCCTGGCACCTATGCCTGGCAAGGAAATGGTTCTGGGTGAGCTTCAGTAAAGTACTTGGCCTCCCTGCGCCTCAGTGTCCTCACCTGTGAAATGGATCCTTCAGAAAGCACTCTCCACATTAGTAATAATGCTATAGCAGTGTCCCCCCTTATTTGGGATGGGGCAGTTGTCTTACCGAGTTGTGAGGCTCAGGTCCCCCCATGACAGCTGCCTCCCCAGTTGCTTCTGGGCCTCCCAGAGGGGAGGGGAACTCGCTCAGGCTCCAAGTGCTGCTGAGGTTGGAGCACAGGGAATGGGAGGAGGCACAGGCCTGGAAGAGGGAGAGGAGAGGAAGGAGGTGAGCAGTGCTAGGCCCACGTCAACCACAGTCCTTTACTGAGCACCTGCCATGTGCCAGCACAGGGACAGATCCCTGTCCTCAGGGAGCTCACAGCCTAGAATGGGAGATAAACTGTAAACCAGCAGACATGTGAACAAAATAGCCCCAAGCTGAGACAATAGCAGAAGGAAGGTGCCCAGGGCATGGAAAACACACAAAGACCCCACCCAGCCTGGGAGTCCAAGTACTCTCCAAAGAAACTGTGGTTTGAACTGAGAACTCAAGGGTATAGAGGCGCTAAGTAGGTCAAGCTGGGATGGTCCAGGCAGATCAACAGCATGTGCAAAGGCCCTGAGGCAGGACTGTGATGCATTCCAGTTGAAAGACTGGAACCCACAGAACCAGGCGAGAGGACAAGAGGAACCCCACCCGCAGGGCCTCTTGGCCATGAAAAGGGACTCTGTCTTTACCAAACAGCAAAAAAGCCACTGGGGGTTAAAAAAAAAAAAAAGTCTTGGATTAATGCTGACTTTTCCTATATTCCTCCAGGCCCCAGTGCTTCAAACACCAGGCCTGCGGAGCTCACTGTCAGGCAACTCAAAATAAGAAAACGCAGGCTGGGCGTTCGCACCTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATCCCTTGAGGTCAGGAGTTTGAAACCAGCCTGGCCAACATGGTGAAACCCCCATCCCTACTGAAAATACAAAAAAAAACTTAGCTGGGTATGGTGGCAGGCACCTGTAGTCCCAGCTACTAGGGAGGCTAAGGCACGAGAATAACTTGAACCTGGGATCCAGCCTGGGTGATACAGCAAGATTCTGTCTCAAAAAAAAAAAAAAAAGGAAAAAGCAGAGCTCCCGGCAGCAGCCTGAGGACCACGATCCAATTTACAGTGGGTCTGGGACTCCAGCTCCAGTGCTAGCTGGCTGTGTGGCCTTGGGCAAGCCCCTCACCCTCTCTGGGCCCTGTGCGATGAGAGGATTAGACCAGCTGGTCTCTGAGGGATGCTTAGGCCCATGTTAGTCCTGACTAGCTGGTCTCTGAGGCCCAGGTTTTGCATTCTAACATGCACACAGGCACTCAGGCAGCCAGCCTTCCCCAGTTAAATGCAAAGACCAGCTCCAAACTATTCTTAGTGTCCCAGAAGCAACCCCAGAAACTCAGAGACCAACATGCCCCTCCGCCTGCTCACCAGCCCACACCCAGCCCAGCCTGGGTTCAAGTTCCCGCCCCTAACTGAGGACTCTTCCCACTTCCCCCAAGCTTCCTCCCCTGGCTGAGGTCTCCCACCAGGGCCGGCACGTTCCCAGCCCTGGCCAAGAGCTCCTGCCAGGACCCCAGCCTTCCTGCCAGGACCTCCACAATCTTGACCCGCTCACCTTGAGGCAGGTGCCACCCTGGGCCCGCTGCAGCTGAACCTCCAGCAGAGCCTTGGTGCCCTCCAGGCTGGTGAGCGTTGTCAGCAGCTCATCCCGCTCCGCCTCCAGGCCCCGCACCTGCTTGCAGTACTGGTCCTTCTCGATGAGGCTCTGTGAGTACTGCAACTGGATCCGGTCACGGCTCTGGATGGCCTAGGGTTGGGGGAGGGGAGGCAGCAGCTGAAGGAGCCACCTTGGCCCAGCTTTCCTGGCCTATGACTTGGAGAATGGGGACAGTAAGGAGAATGGCAGCTATCACTTACTGAGCACTGTGTGCCGGGCCCTGAGCTAAATTATCAGCTCATTTAAATATCTTCACACTAACTGGCTAAGTTAGATACTATTAATATCATTATTCTCATTCTGCAGACTGGGGAAACCAAGCCAGGAGCGACAGAGCTGGGATTCAAATCGGGCAGTCCATCTGCAGAATCCAGGCTCTCACCATTTCACCAAGAACTGAAAACTTTTCCACGAGACCTGCTGTGTGCCAGGGGCTTCACTCCCAGCATCCCAGTCAGTGGAGAAGCCAGGAGTCAAACCCAGCCCACTGCATCCACAGTGAAGACCAGGGGCTCCAGAGCTGGGCCCATGGTCCAGACCTGTCACCCATGCCTCAGAGAGAGCCGGGGGCAGCCCCATAAAATGCAGATTCCTGGGGCCCACCCCAGACCACCTGAATCAGAACGTCCAGAGAATGAAGCCCCAAATTTGCACTTTCAAGCTTGCCAGGGGATTCTGAGGGCATTTCTAATATGCAGACTTCGGCTGGGCATGGGAGCTCATGCCTTTGATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCAGTTGAGCCCAGGAGTTCAAGACCAGCCTGGTCAATATAGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCCAGGAATGGTGGCATGCCTGTAATACCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAATCTGGGAGGCCTCAGTGAGCTGAGATTGCACCACTGCACTCCAACCTGGGCAACAGAGCTAGATTCAGTCTCAAAAAGTAATAACAACAATAATATACAGACTTCAACTCCTCTAGTGGGATTCACACCTGGTTAAGGACAAAAACCTCCTGCCCTTCCCCGCTGCAGATGGAACCTCACACAAGGAGGCTCGGGGGCCTGGTGGCACTGGCCGGAGGTCCTCAGCCCACCCCACAACCTTGGCAGGAGACAAGGGTCATAGTGCCCAGGGACTGAAAGCCAAAACTTTTGAGAATTTCTTCATCGGCTTCTATTTGTAAGCACTCCCTCTGTGCTGGCCTTGTCTTTGAGATGGACAGAACAAGGGATTCAAAAATGAAGACACCAGGACCAGCTTCTGTAACTGCCACAGGAGCTCAGATGAGGCCAGTGGGTCCAGGGTGTAAGGCTGGTATCTCAAGGGCTCCAGGTCTCCTGTCTGGTTCCCCCAGCCTTTGTGCCCCGTCCTAACCCAACAGGGAGCGGCTAACGTCTCTTTCTACCATTCTAGTCCCCTCCATTGCTCCTTGTCTCCTCCCATATGGGAAGCAGCAACTGGCCCAGGGCCTCGTACACGCAGGCTGGGCTCACCTGGTCTCGCTCCTTCTCAATCTCCTCCAGTTGGGCCAGGACAGTGGCCATGCGGTGCTTGTACAGGTCACAGTCCTTCTGCAGCGTGCGGTGCTTGAGCCGCAGGTCTTCCATCTCCTGCAGGTACTGAGGGTGGCACGGGGCGGGGTCAGACCACAGGGCTGGGGACCATGAGAAAGCTAACCAGCAGGTGCCCAGGAGGGCCAGTGAGAGACGCTCACCAACAGTCTGAGACCCAATAACAAGTCCCCTCCTGCCCAGTGGAGTGGTCTGAGCCACTGACTTTACCTCACAGGCCCTCAACTGCCTAATCTGTAAAACGAGAAGAATGATCATCATTTCACCCATCCGGCCACCCTTGGCCTCCCCACTCAAACTGCAACCGGCCCCTTCCCCAGCTCTGCATCTCCCACGGTGCTCATCGCCTTTGACTACATGAAATAGCTGACGTGGGACTGTGTATCTCACATACTGCCAGTCTCCCCTGCTGGAGTTCCCCCTCAAGGAAAAGGCACCTTTGTTTTGCTCACTGCGGC
Task1_train_28777
A sequence alteration has been identified in TRIOBP (TRIO and F-actin binding protein) on Chromosome 22. Is it disease-inducing or harmless?
Pathogenic; Autosomal recessive nonsyndromic hearing loss 28
AGTGGAACACCCCCAGAGCTTCCTCTCCCTCACGAAGCACCCAACTGGATAACCCCAGAACCTCTTCTACCCAGCAGGACAACCCCCAAACTTCTTTTCCTACTTGTACTCCCCAGCGGGAAAACCCCAGGACACCCTGTGTCCAGCAGGACGATCCCAGAGCCTCCTCTCCCAACAGAACCACTCAACGAGAGAATTCCAGAACATCCTGTGCCCAGCGGGACAATCCCAAAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGCGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAGTAGAGCTACACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAGTAGAGCTACACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGCGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAATAGAGCTGCACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAATAGAGCTACACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGATAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAACAGAACCACCCAACAAGACAGCCCCAGAACATCCTGTGCCCGACGGGACGATCCCAGAGCCTCCTCTCCTAACAGAACCATCCAACAAGAGAACCCCAGAACATCCTGTGCCCTACGGGACAATCCCAGAGCCTCCTCTCCCAGCAGAACCATCCAACAAGAGAACCCCAGAACATCCTGTGCCCAACGGGACGATCCCAGAGCCTCCTCTCCTAACAGAACCACCCAACAAGAGAACCCCAGAACATCCTGTGCCCGACGGGACAATCCCAGAGCCTCCTCTCGCAACAGAACCATCCAGCGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCTAACAGAACCATCCAACAAGAGAACCTCAGAACATCCTGTACCCGACAGGACAATCCCAGGACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCTCAGAGCCTCCTCTCCCATCAGAGCCACCCAACAGGACAACCCCAGAACTTGTATTCAACAGAACATCCCCAGATCATCTTCTACCCAACAAGACAACCCTAAAACCTCTTGTACCAAACGAGATAACCTCAGACCCACTTGTACACAGCGGGACCGCACACAGTCCTTTTCCTTTCAACGAGACAACCCTGGAACCTCCTCATCTCAATGCTGCACCCAAAAGGAGAATCTGAGACCATCATCTCCCCACCGCTCCACTCAATGGAACAATCCCAGGAATTCATCTCCCCATCGTACTAACAAAGACATCCCCTGGGCCTCGTTTCCCCTCCGGCCAACTCAGAGTGATGGTCCCCGAACCTCTTCCCCATCTCGCTCCAAGCAAAGCGAGGTTCCCTGGGCATCCATCGCCCTCCGGCCAACCCAAGGTGACAGGCCTCAGACATCCTCTCCCAGCAGGCCAGCCCAGCATGACCCACCCCAGTCCTCCTTTGGCCCCACCCAGTACAACTTGCCATCCCGGGCCACCTCTTCCTCCCATAACCCAGGCCACCAGAGCACCTCCCGAACTTCCTCACCTGTGTACCCCGCTGCCTATGGGGCTCCCCTGACCTCTCCTGAGCCCTCCCAGCCTCCATGTGCTGTGTGCATTGGGCACCGGGATGCCCCTCGAGCCTCTTCGCCCCCTCGCTATTTGCAGCACGACCCCTTCCCCTTCTTCCCAGAGCCCCGCGCCCCTGAGAGTGAACCGCCCCACCACGAGCCTCCCTATATACCACCTGCTGTGTGCATTGGACACCGAGATGCCCCCCGGGCGTCCTCGCCCCCCCGCCACACCCAATTTGACCCCTTCCCCTTCCTCCCAGACACATCAGATGCCGAGCATCAGTGTCAGTCCCCCCAACACGAGCCCCTTCAGCTCCCTGCACCTGTGTGTATTGGGTACCGAGATGCACCCCGGGCCTCCTCCCCACCACGCCAGGCCCCAGAGCCTTCCCTCTTATTCCAGGACCTCCCCAGGGCCAGCACAGAGAGCCTTGTCCCTTCCATGGACTCTCTGCACGAGTGCCCCCACATCCCCACCCCTGTGTGCATTGGGCACCGGGATGCACCCTCCTTCTCATCCCCACCACGCCAGGCTCCTGAGCCATCCCTCTTCTTCCAGGATCCCCCTGGAACTAGTATGGAGAGCCTGGCCCCCTCCACTGACTCTCTGCATGGCTCCCCAGTGCTGATCCCCCAAGTGTGCATCGGGCACCGGGATGCACCCCGAGCCTCCTCCCCACCCCGCCACCCACCCAGTGACCTAGCGTTCCTGGCACCCTCACCTTCACCGGGCAGCTCTGGGGGCTCCCGGGGCTCAGCGCCTCCCGGGGAGACCAGGCACAACTTGGAGCGGGAGGAGTACACTGTGCTGGCCGACCTGCCCCCACCCAGGAGGCTGGCCCAGAGACAGCCAGGGCCCCAGGCGCAGTGCAGCAGCGGGGGCCGCACCCACAGCCCTGGCCGTGCAGAGGTGGAGCGCCTCTTCGGGCAAGAGCGCAGGTGAGCCCGGGGGTGGGGTCAGCCAGGTGGGCTGGGGAGGAGGCTCGGCAGCAGGACAGGTGAAGGGTTAGGGTGCCAAAAGAAAGTGTTCAAATCCCCCTGGCTTGCCATTTACCGGCTGTGTGACCTTGGGCAAATCGCTCCATTTCTCTGTTTCTGCATATTGGGAGTTTTCTGTTTTGTGTGTGTGTGTGGTTAAGTGATGTCATGCACAGCCCAGTGGTTAACAGCAAAGACTGCAGTCAGGAGGGCTGAGTCCAAATCCTGGGTCAAAGCCACATGTCAACTCGTATGACCTGATATAGTGAGTTAACCTACCTGAGCCTCAGTTTCCTCATCTGTAAGGGAGGGGAACATGAGCACATTCATTCAAATAAGGGTGAACTGTCTTTTTATTTTTTATTTTTTGTTTTTTTTTTTGAGGTGGAGTTTTGCTCTTGTTGCCCAGGCCGGAGCGCAATGGTGCAATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACGTGCCACCACACCCGGCTAATTTTTTTGTATTTTTACTAGAGACGGGGTTTCGCCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCGCAAAGTGCTAGGATTACAGGAGTGAGCCACCGTGCCCGGCCAAAATGAGAGTGAACTCTCAAACCCTTTGATCCAGACTCATGGGTTTTTTTTTTTTTTCTTCCGTGCATGAGGGAGAAGAAGAAAGTACCCATGATTTTTTCCTGCCTTGGCAAAGAAAACTCATGGGTCCCTATGCATTTCAGAAAACAGTTATGTCAATTTAAAATGTATGGCCAGGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTGGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGATCGACAGCAGCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTACCACTGCACTCCAACCTGGGTGACAGAGTGAGA
AGTGGAACACCCCCAGAGCTTCCTCTCCCTCACGAAGCACCCAACTGGATAACCCCAGAACCTCTTCTACCCAGCAGGACAACCCCCAAACTTCTTTTCCTACTTGTACTCCCCAGCGGGAAAACCCCAGGACACCCTGTGTCCAGCAGGACGATCCCAGAGCCTCCTCTCCCAACAGAACCACTCAACGAGAGAATTCCAGAACATCCTGTGCCCAGCGGGACAATCCCAAAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGCGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAGTAGAGCTACACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAGTAGAGCTACACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGCGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAATAGAGCTGCACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAATAGAGCTACACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGATAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAACAGAACCACCCAACAAGACAGCCCCAGAACATCCTGTGCCCGACGGGACGATCCCAGAGCCTCCTCTCCTAACAGAACCATCCAACAAGAGAACCCCAGAACATCCTGTGCCCTACGGGACAATCCCAGAGCCTCCTCTCCCAGCAGAACCATCCAACAAGAGAACCCCAGAACATCCTGTGCCCAACGGGACGATCCCAGAGCCTCCTCTCCTAACAGAACCACCCAACAAGAGAACCCCAGAACATCCTGTGCCCGACGGGACAATCCCAGAGCCTCCTCTCGCAACAGAACCATCCAGCGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCTAACAGAACCATCCAACAAGAGAACCTCAGAACATCCTGTACCCGACAGGACAATCCCAGGACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCTCAGAGCCTCCTCTCCCATCAGAGCCACCCAACAGGACAACCCCAGAACTTGTATTCAACAGAACATCCCCAGATCATCTTCTACCCAACAAGACAACCCTAAAACCTCTTGTACCAAACGAGATAACCTCAGACCCACTTGTACACAGCGGGACCGCACACAGTCCTTTTCCTTTCAACGAGACAACCCTGGAACCTCCTCATCTCAATGCTGCACCCAAAAGGAGAATCTGAGACCATCATCTCCCCACCGCTCCACTCAATGGAACAATCCCAGGAATTCATCTCCCCATCGTACTAACAAAGACATCCCCTGGGCCTCGTTTCCCCTCCGGCCAACTCAGAGTGATGGTCCCCGAACCTCTTCCCCATCTCGCTCCAAGCAAAGCGAGGTTCCCTGGGCATCCATCGCCCTCCGGCCAACCCAAGGTGACAGGCCTCAGACATCCTCTCCCAGCAGGCCAGCCCAGCATGACCCACCCCAGTCCTCCTTTGGCCCCACCCAGTACAACTTGCCATCCCGGGCCACCTCTTCCTCCCATAACCCAGGCCACCAGAGCACCTCCCGAACTTCCTCACCTGTGTACCCCGCTGCCTATGGGGCTCCCCTGACCTCTCCTGAGCCCTCCCAGCCTCCATGTGCTGTGTGCATTAGGCACCGGGATGCCCCTCGAGCCTCTTCGCCCCCTCGCTATTTGCAGCACGACCCCTTCCCCTTCTTCCCAGAGCCCCGCGCCCCTGAGAGTGAACCGCCCCACCACGAGCCTCCCTATATACCACCTGCTGTGTGCATTGGACACCGAGATGCCCCCCGGGCGTCCTCGCCCCCCCGCCACACCCAATTTGACCCCTTCCCCTTCCTCCCAGACACATCAGATGCCGAGCATCAGTGTCAGTCCCCCCAACACGAGCCCCTTCAGCTCCCTGCACCTGTGTGTATTGGGTACCGAGATGCACCCCGGGCCTCCTCCCCACCACGCCAGGCCCCAGAGCCTTCCCTCTTATTCCAGGACCTCCCCAGGGCCAGCACAGAGAGCCTTGTCCCTTCCATGGACTCTCTGCACGAGTGCCCCCACATCCCCACCCCTGTGTGCATTGGGCACCGGGATGCACCCTCCTTCTCATCCCCACCACGCCAGGCTCCTGAGCCATCCCTCTTCTTCCAGGATCCCCCTGGAACTAGTATGGAGAGCCTGGCCCCCTCCACTGACTCTCTGCATGGCTCCCCAGTGCTGATCCCCCAAGTGTGCATCGGGCACCGGGATGCACCCCGAGCCTCCTCCCCACCCCGCCACCCACCCAGTGACCTAGCGTTCCTGGCACCCTCACCTTCACCGGGCAGCTCTGGGGGCTCCCGGGGCTCAGCGCCTCCCGGGGAGACCAGGCACAACTTGGAGCGGGAGGAGTACACTGTGCTGGCCGACCTGCCCCCACCCAGGAGGCTGGCCCAGAGACAGCCAGGGCCCCAGGCGCAGTGCAGCAGCGGGGGCCGCACCCACAGCCCTGGCCGTGCAGAGGTGGAGCGCCTCTTCGGGCAAGAGCGCAGGTGAGCCCGGGGGTGGGGTCAGCCAGGTGGGCTGGGGAGGAGGCTCGGCAGCAGGACAGGTGAAGGGTTAGGGTGCCAAAAGAAAGTGTTCAAATCCCCCTGGCTTGCCATTTACCGGCTGTGTGACCTTGGGCAAATCGCTCCATTTCTCTGTTTCTGCATATTGGGAGTTTTCTGTTTTGTGTGTGTGTGTGGTTAAGTGATGTCATGCACAGCCCAGTGGTTAACAGCAAAGACTGCAGTCAGGAGGGCTGAGTCCAAATCCTGGGTCAAAGCCACATGTCAACTCGTATGACCTGATATAGTGAGTTAACCTACCTGAGCCTCAGTTTCCTCATCTGTAAGGGAGGGGAACATGAGCACATTCATTCAAATAAGGGTGAACTGTCTTTTTATTTTTTATTTTTTGTTTTTTTTTTTGAGGTGGAGTTTTGCTCTTGTTGCCCAGGCCGGAGCGCAATGGTGCAATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACGTGCCACCACACCCGGCTAATTTTTTTGTATTTTTACTAGAGACGGGGTTTCGCCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCGCAAAGTGCTAGGATTACAGGAGTGAGCCACCGTGCCCGGCCAAAATGAGAGTGAACTCTCAAACCCTTTGATCCAGACTCATGGGTTTTTTTTTTTTTTCTTCCGTGCATGAGGGAGAAGAAGAAAGTACCCATGATTTTTTCCTGCCTTGGCAAAGAAAACTCATGGGTCCCTATGCATTTCAGAAAACAGTTATGTCAATTTAAAATGTATGGCCAGGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTGGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGATCGACAGCAGCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTACCACTGCACTCCAACCTGGGTGACAGAGTGAGA
Task1_train_28778
Gene POLR2F, SOX10 (RNA polymerase II, I and III subunit F| SRY-box transcription factor 10) on Chromosome 22 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Waardenburg syndrome type 2E, with neurologic involvement
CTTTGGGAGGCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACACGGTGAAAAACCATCTCTACTAAAAATACAATAATTAGCTGGGTGTGGTGGCGTGCATCTGTAATCCCAGCTACTTAGGAGGCTGAGGCACAAGAATCGCTTAAACCCAGGAGGCAGACGTTGCAGTGAACCAAGATGGCACCGCTGCACTGCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAACAAAAACAAAAACAAAAAAAAGACAGAGTCTTACTACATTGCCCATGCTGGTCTCAAACTCATGGGCTCAGGTGATCCTCCCACCTCAGCCTCCTGTGTAGCTGGGACTGCGGGCGCATTCCACCATGCCTAGCTTTGTTTCTTCCTGTACTTAATTCACTCGTTTTCATCCCTGCTCCTCTCTCTAGACTATGGGCCCCTGAGGCCAGGGACTGTAGGCTTCTCTGGTTAGTACCCCTGGTGTCCACTCCAGTGTTTGACACAAAGTAGGACTCAGAGCGTGTCCTCTGAAGGCAGAGCTCTGCTCACTGAGCACTTCCCATGTGGCAGACCTGTGTGTGTCACTTTCTGTACATTAGGAACACAGGCAAGGCAGCTGTGGTGCCAAGCAGATGCCCGGGAGCCAAACTGGGGAAGTTCCTGTTTGTTTCTCATCAGTAAAATGAGAGTAACTTGCCACAGCTGAGATCTGAGCCCAGGCAGTTTGGGTACCTCATCACATTGTTTGCAAGGATTGAGTTAGTATACATAAGGCAACTAGCACCTAGCACAGTGCCTGGAACAGAGTAGCTGCTCAATTAAGGTTAGCTGTTATTATCATTAATGAAAATTAAACAAGATAGCTTATGTCTGGCCCATCCATGGCCAGACACGGTATCACATGCCATGTCTCCTCTGTCAGAATGGCTGGTGGGATTTGGGAGGCCGAGGCGGGCAGATTGCCTGAGCTCAGGAGTTTGAGACTGGGCCTGGGCAATATAGTGAAACCCTGTCTCTGCTAAAATACACAAAATGAGCCAGACGTGGCGGTGTGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCCGGGAGGAAAAGGTTGCAGTGCACCGAGATCATGCCACTGCAGTCTAGCCTGGGCGACAGAGTGAGACTCTGTCTCCAGAAAAAAAAAAAAAAGAATGGCTGGTGGGAAAGAGGCAGTGATTTCCTCTCCTCCATTTGCTCTTCCATTTCTCAAAACCATCCTGTCTTCTCCCCCTTTACTTGTAACTGCCCCAGCCACCTCTCACTCCATGACCTCCACAGAGTCTTTTTTTTTTTCTTTCTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCCCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCTCGCCACCACGCCCAGCTAATTTTTTTTATTTTTAGTAGAGATGGGATTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCGGCGGCCTCCACAGTCTTTAACTGGCCCTCTTTGCCCAGTAGGATCAGCCCTGGCCAGAGCCATCTCACCCAGCCACTTCCCCTGGCACCGGAACCCCCATGGAGCTCCCTCTGGGCCCCTGCAGCTCTGCTGGGGCAACTGCACAGCCTGGCACGCTCTCCCTAGAGTCCAGGGTCTCATTGCCATCCAGCCATCTCCTGTCTCCACTGACTGGCCTTGCCCCACCCTCAGCTCTGTCATCAGCACTCACCTGAGGGGTGCTCGGGGTTCCCATCTGACATGGGGGAGCCCTCTCCTGGGTGCCGGTGGTCCAAGTGGGCGCTCTTGTAGTGGGCCTGGATGGCGGCGGTCCCACCTTGCTCGGCCTCCCCACCGGGGCACTCCGCCTCGCCCTGGGCGGCCTTCCCGTTCTTCCGCCGCCTGGGCTGGTACTTGTAGTCCGGGTGGTCTTTCTTGTGCTGCATACGGAGCCGCTCAGCCTCCTCGATGAAGGGGCGCTTGTCACTTTCGTTCAGCAGCCTGGGGTGTGGTGGGAGGCGGAGAGGACAGCAGAGGGGCTGGCGTGAATGCCAGAGCACTCCAGGTTGGCCTCCCTCTGAGTGTCCATCTTGGAAGATGTGAGGCCCTGGGATGGGGCACCCAGAGGACAGGACCCGGGGTGGGGGCTGTGCCCTATGATTTGTGGACTGAGAGATGTGAGGCCCAAGGAATAACAGCCTCAGAGGGCTGCCCCCAAATCTTTCATGGGCTGGAGGGTGAGAGAGGGGTCAGCCCGCTGCTCCTGGCAGCCCCTGAGGAGGAGTTAGAAGTAGGAGTAGAGGTTTCAAGGGGCAGATGCCAGTTCAAGGAAAGGAAAAACTTTCTCATCATCAAAGCTGTCTGCAAGTGGAATTGGCTACTTCAGTGGGGGTGAGCTCCCTGGGACTGAGGGTGGGCAATAGAAGCAGCATGGCTGGGGGAGAACTCAGTCTCTGCTACTTACTAGCTGTGTGTGTGACCTTGAGCAAATTACTTCTCTGAGCCTGAGTTTCTTCACCTATAAAAGGATGATAACATTGGCTTAACTTGGGTGTGGGATTGGCCAGAATAATGGATGTGAGATGCCTTGCACCAGGGCCTGGGAAGCGGGCTGAGCACCTTGAGGAAGAGGTGCTTTTCTTTCTTTCTTTTTTTTTTCTGTGAGGGAATCTCACTCTGTCACCCATGCTAGAGCTCAGTGGTATGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCGGTTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTCCAACTCCTGACCTTAGTTGATCCGCCTGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCCAGCCCAAGAGGTACTTTTCTATTTTTAATTTTTTATTTATTTAGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCCGTGATGCGGTCTCAGCTCACTGCAATCTCGGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGGGTAGCTGGGACTACAGGCACGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATATTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTATAGGCATGAGCCACCGTGCCCGGCCCCAAGAGGTGCTTTTCTAATGCTGCTTGCGGGGGTGGTTGGACAGGAGGATCTAGGGTTGGACTCTTAACTCTGGGTCCTGATTGTGTGAATTCCAGTGTGGTGGGACTGAGGGGGCAGATGTGGCTCCTCTTTACCATGGGTCTGGGTGGGGGGTACTGCCTCCTGTGGGGGATCCTATATCCTTGTCCAGAAAATAGCAGAGAGTAGAGGAAGCTAGCCTCTCCTCAGACCCTGGAACAGTCCCTGAAACCAACACATGGAGAGAAGAAGCCCTGAAGCCAGCGCCCTTGCCACCGACTCCAGCCTTAGGCCAGGGTTGGAGGGTGGAGGGCATTTAGGGTTTGGCTGCCCCAGGGTGAGGAGGGCAGGATGGGGTACCTTACAGAGGGGGTCGAGGGGAAAGTCCAGATTCTAGAATCCCAGACCTTGGTACTGAGAATCCATGAGTCTTTGTGGGAGCAGCCTTGTCTGTCAGTCCAGAGGGCTTGTCTCTTCAGCTGCCCCACCCCTCACACCCCAGTGAGTGCCCTCTTCCCCCAGTCAGCAGAAGGCCGAGCCCTCCCTCCCCAGGCTGGGCGGGGGTGGTCATGCCAGGCACCTCCTAGCCGGCAGCAGCATTCCTCTGCGGCTTAGCCTCCCTGTCTACTCCCCCCACCCCGGCCCTGAGCCCAGCCCTAGCCCCAGCTTTCTC
CTTTGGGAGGCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACACGGTGAAAAACCATCTCTACTAAAAATACAATAATTAGCTGGGTGTGGTGGCGTGCATCTGTAATCCCAGCTACTTAGGAGGCTGAGGCACAAGAATCGCTTAAACCCAGGAGGCAGACGTTGCAGTGAACCAAGATGGCACCGCTGCACTGCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAACAAAAACAAAAACAAAAAAAAGACAGAGTCTTACTACATTGCCCATGCTGGTCTCAAACTCATGGGCTCAGGTGATCCTCCCACCTCAGCCTCCTGTGTAGCTGGGACTGCGGGCGCATTCCACCATGCCTAGCTTTGTTTCTTCCTGTACTTAATTCACTCGTTTTCATCCCTGCTCCTCTCTCTAGACTATGGGCCCCTGAGGCCAGGGACTGTAGGCTTCTCTGGTTAGTACCCCTGGTGTCCACTCCAGTGTTTGACACAAAGTAGGACTCAGAGCGTGTCCTCTGAAGGCAGAGCTCTGCTCACTGAGCACTTCCCATGTGGCAGACCTGTGTGTGTCACTTTCTGTACATTAGGAACACAGGCAAGGCAGCTGTGGTGCCAAGCAGATGCCCGGGAGCCAAACTGGGGAAGTTCCTGTTTGTTTCTCATCAGTAAAATGAGAGTAACTTGCCACAGCTGAGATCTGAGCCCAGGCAGTTTGGGTACCTCATCACATTGTTTGCAAGGATTGAGTTAGTATACATAAGGCAACTAGCACCTAGCACAGTGCCTGGAACAGAGTAGCTGCTCAATTAAGGTTAGCTGTTATTATCATTAATGAAAATTAAACAAGATAGCTTATGTCTGGCCCATCCATGGCCAGACACGGTATCACATGCCATGTCTCCTCTGTCAGAATGGCTGGTGGGATTTGGGAGGCCGAGGCGGGCAGATTGCCTGAGCTCAGGAGTTTGAGACTGGGCCTGGGCAATATAGTGAAACCCTGTCTCTGCTAAAATACACAAAATGAGCCAGACGTGGCGGTGTGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCCGGGAGGAAAAGGTTGCAGTGCACCGAGATCATGCCACTGCAGTCTAGCCTGGGCGACAGAGTGAGACTCTGTCTCCAGAAAAAAAAAAAAAAGAATGGCTGGTGGGAAAGAGGCAGTGATTTCCTCTCCTCCATTTGCTCTTCCATTTCTCAAAACCATCCTGTCTTCTCCCCCTTTACTTGTAACTGCCCCAGCCACCTCTCACTCCATGACCTCCACAGAGTCTTTTTTTTTTTCTTTCTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCCCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCTCGCCACCACGCCCAGCTAATTTTTTTTATTTTTAGTAGAGATGGGATTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCGGCGGCCTCCACAGTCTTTAACTGGCCCTCTTTGCCCAGTAGGATCAGCCCTGGCCAGAGCCATCTCACCCAGCCACTTCCCCTGGCACCGGAACCCCCATGGAGCTCCCTCTGGGCCCCTGCAGCTCTGCTGGGGCAACTGCACAGCCTGGCACGCTCTCCCTAGAGTCCAGGGTCTCATTGCCATCCAGCCATCTCCTGTCTCCACTGACTGGCCTTGCCCCACCCTCAGCTCTGTCATCAGCACTCACCTGAGGGGTGCTCGGGGTTCCCATCTGACATGGGGGAGCCCTCTCCTGGGTGCCGGTGGTCCAAGTGGGCGCTCTTGTAGTGGGCCTGGATGGCGGCGGTCCCACCTTGCTCGGCCTCCCCACCGGGGCACTCCGCCTCGCCCTGGGCGGCCTTCCCGTTCTTCCGCCGCCTGGGCGGGTACTTGTAGTCCGGGTGGTCTTTCTTGTGCTGCATACGGAGCCGCTCAGCCTCCTCGATGAAGGGGCGCTTGTCACTTTCGTTCAGCAGCCTGGGGTGTGGTGGGAGGCGGAGAGGACAGCAGAGGGGCTGGCGTGAATGCCAGAGCACTCCAGGTTGGCCTCCCTCTGAGTGTCCATCTTGGAAGATGTGAGGCCCTGGGATGGGGCACCCAGAGGACAGGACCCGGGGTGGGGGCTGTGCCCTATGATTTGTGGACTGAGAGATGTGAGGCCCAAGGAATAACAGCCTCAGAGGGCTGCCCCCAAATCTTTCATGGGCTGGAGGGTGAGAGAGGGGTCAGCCCGCTGCTCCTGGCAGCCCCTGAGGAGGAGTTAGAAGTAGGAGTAGAGGTTTCAAGGGGCAGATGCCAGTTCAAGGAAAGGAAAAACTTTCTCATCATCAAAGCTGTCTGCAAGTGGAATTGGCTACTTCAGTGGGGGTGAGCTCCCTGGGACTGAGGGTGGGCAATAGAAGCAGCATGGCTGGGGGAGAACTCAGTCTCTGCTACTTACTAGCTGTGTGTGTGACCTTGAGCAAATTACTTCTCTGAGCCTGAGTTTCTTCACCTATAAAAGGATGATAACATTGGCTTAACTTGGGTGTGGGATTGGCCAGAATAATGGATGTGAGATGCCTTGCACCAGGGCCTGGGAAGCGGGCTGAGCACCTTGAGGAAGAGGTGCTTTTCTTTCTTTCTTTTTTTTTTCTGTGAGGGAATCTCACTCTGTCACCCATGCTAGAGCTCAGTGGTATGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCGGTTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTCCAACTCCTGACCTTAGTTGATCCGCCTGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCCAGCCCAAGAGGTACTTTTCTATTTTTAATTTTTTATTTATTTAGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCCGTGATGCGGTCTCAGCTCACTGCAATCTCGGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGGGTAGCTGGGACTACAGGCACGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATATTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTATAGGCATGAGCCACCGTGCCCGGCCCCAAGAGGTGCTTTTCTAATGCTGCTTGCGGGGGTGGTTGGACAGGAGGATCTAGGGTTGGACTCTTAACTCTGGGTCCTGATTGTGTGAATTCCAGTGTGGTGGGACTGAGGGGGCAGATGTGGCTCCTCTTTACCATGGGTCTGGGTGGGGGGTACTGCCTCCTGTGGGGGATCCTATATCCTTGTCCAGAAAATAGCAGAGAGTAGAGGAAGCTAGCCTCTCCTCAGACCCTGGAACAGTCCCTGAAACCAACACATGGAGAGAAGAAGCCCTGAAGCCAGCGCCCTTGCCACCGACTCCAGCCTTAGGCCAGGGTTGGAGGGTGGAGGGCATTTAGGGTTTGGCTGCCCCAGGGTGAGGAGGGCAGGATGGGGTACCTTACAGAGGGGGTCGAGGGGAAAGTCCAGATTCTAGAATCCCAGACCTTGGTACTGAGAATCCATGAGTCTTTGTGGGAGCAGCCTTGTCTGTCAGTCCAGAGGGCTTGTCTCTTCAGCTGCCCCACCCCTCACACCCCAGTGAGTGCCCTCTTCCCCCAGTCAGCAGAAGGCCGAGCCCTCCCTCCCCAGGCTGGGCGGGGGTGGTCATGCCAGGCACCTCCTAGCCGGCAGCAGCATTCCTCTGCGGCTTAGCCTCCCTGTCTACTCCCCCCACCCCGGCCCTGAGCCCAGCCCTAGCCCCAGCTTTCTC
Task1_train_28779
Here’s a variant in POLR2F, SOX10 (RNA polymerase II, I and III subunit F| SRY-box transcription factor 10) located on Chromosome 22. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; PCWH syndrome
CAACACGGTGAAAAACCATCTCTACTAAAAATACAATAATTAGCTGGGTGTGGTGGCGTGCATCTGTAATCCCAGCTACTTAGGAGGCTGAGGCACAAGAATCGCTTAAACCCAGGAGGCAGACGTTGCAGTGAACCAAGATGGCACCGCTGCACTGCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAACAAAAACAAAAACAAAAAAAAGACAGAGTCTTACTACATTGCCCATGCTGGTCTCAAACTCATGGGCTCAGGTGATCCTCCCACCTCAGCCTCCTGTGTAGCTGGGACTGCGGGCGCATTCCACCATGCCTAGCTTTGTTTCTTCCTGTACTTAATTCACTCGTTTTCATCCCTGCTCCTCTCTCTAGACTATGGGCCCCTGAGGCCAGGGACTGTAGGCTTCTCTGGTTAGTACCCCTGGTGTCCACTCCAGTGTTTGACACAAAGTAGGACTCAGAGCGTGTCCTCTGAAGGCAGAGCTCTGCTCACTGAGCACTTCCCATGTGGCAGACCTGTGTGTGTCACTTTCTGTACATTAGGAACACAGGCAAGGCAGCTGTGGTGCCAAGCAGATGCCCGGGAGCCAAACTGGGGAAGTTCCTGTTTGTTTCTCATCAGTAAAATGAGAGTAACTTGCCACAGCTGAGATCTGAGCCCAGGCAGTTTGGGTACCTCATCACATTGTTTGCAAGGATTGAGTTAGTATACATAAGGCAACTAGCACCTAGCACAGTGCCTGGAACAGAGTAGCTGCTCAATTAAGGTTAGCTGTTATTATCATTAATGAAAATTAAACAAGATAGCTTATGTCTGGCCCATCCATGGCCAGACACGGTATCACATGCCATGTCTCCTCTGTCAGAATGGCTGGTGGGATTTGGGAGGCCGAGGCGGGCAGATTGCCTGAGCTCAGGAGTTTGAGACTGGGCCTGGGCAATATAGTGAAACCCTGTCTCTGCTAAAATACACAAAATGAGCCAGACGTGGCGGTGTGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCCGGGAGGAAAAGGTTGCAGTGCACCGAGATCATGCCACTGCAGTCTAGCCTGGGCGACAGAGTGAGACTCTGTCTCCAGAAAAAAAAAAAAAAGAATGGCTGGTGGGAAAGAGGCAGTGATTTCCTCTCCTCCATTTGCTCTTCCATTTCTCAAAACCATCCTGTCTTCTCCCCCTTTACTTGTAACTGCCCCAGCCACCTCTCACTCCATGACCTCCACAGAGTCTTTTTTTTTTTCTTTCTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCCCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCTCGCCACCACGCCCAGCTAATTTTTTTTATTTTTAGTAGAGATGGGATTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCGGCGGCCTCCACAGTCTTTAACTGGCCCTCTTTGCCCAGTAGGATCAGCCCTGGCCAGAGCCATCTCACCCAGCCACTTCCCCTGGCACCGGAACCCCCATGGAGCTCCCTCTGGGCCCCTGCAGCTCTGCTGGGGCAACTGCACAGCCTGGCACGCTCTCCCTAGAGTCCAGGGTCTCATTGCCATCCAGCCATCTCCTGTCTCCACTGACTGGCCTTGCCCCACCCTCAGCTCTGTCATCAGCACTCACCTGAGGGGTGCTCGGGGTTCCCATCTGACATGGGGGAGCCCTCTCCTGGGTGCCGGTGGTCCAAGTGGGCGCTCTTGTAGTGGGCCTGGATGGCGGCGGTCCCACCTTGCTCGGCCTCCCCACCGGGGCACTCCGCCTCGCCCTGGGCGGCCTTCCCGTTCTTCCGCCGCCTGGGCTGGTACTTGTAGTCCGGGTGGTCTTTCTTGTGCTGCATACGGAGCCGCTCAGCCTCCTCGATGAAGGGGCGCTTGTCACTTTCGTTCAGCAGCCTGGGGTGTGGTGGGAGGCGGAGAGGACAGCAGAGGGGCTGGCGTGAATGCCAGAGCACTCCAGGTTGGCCTCCCTCTGAGTGTCCATCTTGGAAGATGTGAGGCCCTGGGATGGGGCACCCAGAGGACAGGACCCGGGGTGGGGGCTGTGCCCTATGATTTGTGGACTGAGAGATGTGAGGCCCAAGGAATAACAGCCTCAGAGGGCTGCCCCCAAATCTTTCATGGGCTGGAGGGTGAGAGAGGGGTCAGCCCGCTGCTCCTGGCAGCCCCTGAGGAGGAGTTAGAAGTAGGAGTAGAGGTTTCAAGGGGCAGATGCCAGTTCAAGGAAAGGAAAAACTTTCTCATCATCAAAGCTGTCTGCAAGTGGAATTGGCTACTTCAGTGGGGGTGAGCTCCCTGGGACTGAGGGTGGGCAATAGAAGCAGCATGGCTGGGGGAGAACTCAGTCTCTGCTACTTACTAGCTGTGTGTGTGACCTTGAGCAAATTACTTCTCTGAGCCTGAGTTTCTTCACCTATAAAAGGATGATAACATTGGCTTAACTTGGGTGTGGGATTGGCCAGAATAATGGATGTGAGATGCCTTGCACCAGGGCCTGGGAAGCGGGCTGAGCACCTTGAGGAAGAGGTGCTTTTCTTTCTTTCTTTTTTTTTTCTGTGAGGGAATCTCACTCTGTCACCCATGCTAGAGCTCAGTGGTATGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCGGTTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTCCAACTCCTGACCTTAGTTGATCCGCCTGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCCAGCCCAAGAGGTACTTTTCTATTTTTAATTTTTTATTTATTTAGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCCGTGATGCGGTCTCAGCTCACTGCAATCTCGGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGGGTAGCTGGGACTACAGGCACGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATATTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTATAGGCATGAGCCACCGTGCCCGGCCCCAAGAGGTGCTTTTCTAATGCTGCTTGCGGGGGTGGTTGGACAGGAGGATCTAGGGTTGGACTCTTAACTCTGGGTCCTGATTGTGTGAATTCCAGTGTGGTGGGACTGAGGGGGCAGATGTGGCTCCTCTTTACCATGGGTCTGGGTGGGGGGTACTGCCTCCTGTGGGGGATCCTATATCCTTGTCCAGAAAATAGCAGAGAGTAGAGGAAGCTAGCCTCTCCTCAGACCCTGGAACAGTCCCTGAAACCAACACATGGAGAGAAGAAGCCCTGAAGCCAGCGCCCTTGCCACCGACTCCAGCCTTAGGCCAGGGTTGGAGGGTGGAGGGCATTTAGGGTTTGGCTGCCCCAGGGTGAGGAGGGCAGGATGGGGTACCTTACAGAGGGGGTCGAGGGGAAAGTCCAGATTCTAGAATCCCAGACCTTGGTACTGAGAATCCATGAGTCTTTGTGGGAGCAGCCTTGTCTGTCAGTCCAGAGGGCTTGTCTCTTCAGCTGCCCCACCCCTCACACCCCAGTGAGTGCCCTCTTCCCCCAGTCAGCAGAAGGCCGAGCCCTCCCTCCCCAGGCTGGGCGGGGGTGGTCATGCCAGGCACCTCCTAGCCGGCAGCAGCATTCCTCTGCGGCTTAGCCTCCCTGTCTACTCCCCCCACCCCGGCCCTGAGCCCAGCCCTAGCCCCAGCTTTCTCAGAGGGTCCCTCCAGCCGAGACTCTGTCAGAGTCAGTGTA
CAACACGGTGAAAAACCATCTCTACTAAAAATACAATAATTAGCTGGGTGTGGTGGCGTGCATCTGTAATCCCAGCTACTTAGGAGGCTGAGGCACAAGAATCGCTTAAACCCAGGAGGCAGACGTTGCAGTGAACCAAGATGGCACCGCTGCACTGCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAACAAAAACAAAAACAAAAAAAAGACAGAGTCTTACTACATTGCCCATGCTGGTCTCAAACTCATGGGCTCAGGTGATCCTCCCACCTCAGCCTCCTGTGTAGCTGGGACTGCGGGCGCATTCCACCATGCCTAGCTTTGTTTCTTCCTGTACTTAATTCACTCGTTTTCATCCCTGCTCCTCTCTCTAGACTATGGGCCCCTGAGGCCAGGGACTGTAGGCTTCTCTGGTTAGTACCCCTGGTGTCCACTCCAGTGTTTGACACAAAGTAGGACTCAGAGCGTGTCCTCTGAAGGCAGAGCTCTGCTCACTGAGCACTTCCCATGTGGCAGACCTGTGTGTGTCACTTTCTGTACATTAGGAACACAGGCAAGGCAGCTGTGGTGCCAAGCAGATGCCCGGGAGCCAAACTGGGGAAGTTCCTGTTTGTTTCTCATCAGTAAAATGAGAGTAACTTGCCACAGCTGAGATCTGAGCCCAGGCAGTTTGGGTACCTCATCACATTGTTTGCAAGGATTGAGTTAGTATACATAAGGCAACTAGCACCTAGCACAGTGCCTGGAACAGAGTAGCTGCTCAATTAAGGTTAGCTGTTATTATCATTAATGAAAATTAAACAAGATAGCTTATGTCTGGCCCATCCATGGCCAGACACGGTATCACATGCCATGTCTCCTCTGTCAGAATGGCTGGTGGGATTTGGGAGGCCGAGGCGGGCAGATTGCCTGAGCTCAGGAGTTTGAGACTGGGCCTGGGCAATATAGTGAAACCCTGTCTCTGCTAAAATACACAAAATGAGCCAGACGTGGCGGTGTGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCCGGGAGGAAAAGGTTGCAGTGCACCGAGATCATGCCACTGCAGTCTAGCCTGGGCGACAGAGTGAGACTCTGTCTCCAGAAAAAAAAAAAAAAGAATGGCTGGTGGGAAAGAGGCAGTGATTTCCTCTCCTCCATTTGCTCTTCCATTTCTCAAAACCATCCTGTCTTCTCCCCCTTTACTTGTAACTGCCCCAGCCACCTCTCACTCCATGACCTCCACAGAGTCTTTTTTTTTTTCTTTCTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCCCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCTCGCCACCACGCCCAGCTAATTTTTTTTATTTTTAGTAGAGATGGGATTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCGGCGGCCTCCACAGTCTTTAACTGGCCCTCTTTGCCCAGTAGGATCAGCCCTGGCCAGAGCCATCTCACCCAGCCACTTCCCCTGGCACCGGAACCCCCATGGAGCTCCCTCTGGGCCCCTGCAGCTCTGCTGGGGCAACTGCACAGCCTGGCACGCTCTCCCTAGAGTCCAGGGTCTCATTGCCATCCAGCCATCTCCTGTCTCCACTGACTGGCCTTGCCCCACCCTCAGCTCTGTCATCAGCACTCACCTGAGGGGTGCTCGGGGTTCCCATCTGACATGGGGGAGCCCTCTCCTGGGTGCCGGTGGTCCAAGTGGGCGCTCTTGTAGTGGGCCTGGATGGCGGCGGTCCCACCTTGCTCGGCCTCCCCACCGGGGCACTCCGCCTCGCCCTGGGCGGCCTTCCCGTTCTTCCGCCGCCTGGGCTGGTACTTGTAGTCCGGGTGGTCTTTCTTGTGCTGCATACAGAGCCGCTCAGCCTCCTCGATGAAGGGGCGCTTGTCACTTTCGTTCAGCAGCCTGGGGTGTGGTGGGAGGCGGAGAGGACAGCAGAGGGGCTGGCGTGAATGCCAGAGCACTCCAGGTTGGCCTCCCTCTGAGTGTCCATCTTGGAAGATGTGAGGCCCTGGGATGGGGCACCCAGAGGACAGGACCCGGGGTGGGGGCTGTGCCCTATGATTTGTGGACTGAGAGATGTGAGGCCCAAGGAATAACAGCCTCAGAGGGCTGCCCCCAAATCTTTCATGGGCTGGAGGGTGAGAGAGGGGTCAGCCCGCTGCTCCTGGCAGCCCCTGAGGAGGAGTTAGAAGTAGGAGTAGAGGTTTCAAGGGGCAGATGCCAGTTCAAGGAAAGGAAAAACTTTCTCATCATCAAAGCTGTCTGCAAGTGGAATTGGCTACTTCAGTGGGGGTGAGCTCCCTGGGACTGAGGGTGGGCAATAGAAGCAGCATGGCTGGGGGAGAACTCAGTCTCTGCTACTTACTAGCTGTGTGTGTGACCTTGAGCAAATTACTTCTCTGAGCCTGAGTTTCTTCACCTATAAAAGGATGATAACATTGGCTTAACTTGGGTGTGGGATTGGCCAGAATAATGGATGTGAGATGCCTTGCACCAGGGCCTGGGAAGCGGGCTGAGCACCTTGAGGAAGAGGTGCTTTTCTTTCTTTCTTTTTTTTTTCTGTGAGGGAATCTCACTCTGTCACCCATGCTAGAGCTCAGTGGTATGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCGGTTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTCCAACTCCTGACCTTAGTTGATCCGCCTGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCCAGCCCAAGAGGTACTTTTCTATTTTTAATTTTTTATTTATTTAGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCCGTGATGCGGTCTCAGCTCACTGCAATCTCGGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGGGTAGCTGGGACTACAGGCACGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATATTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTATAGGCATGAGCCACCGTGCCCGGCCCCAAGAGGTGCTTTTCTAATGCTGCTTGCGGGGGTGGTTGGACAGGAGGATCTAGGGTTGGACTCTTAACTCTGGGTCCTGATTGTGTGAATTCCAGTGTGGTGGGACTGAGGGGGCAGATGTGGCTCCTCTTTACCATGGGTCTGGGTGGGGGGTACTGCCTCCTGTGGGGGATCCTATATCCTTGTCCAGAAAATAGCAGAGAGTAGAGGAAGCTAGCCTCTCCTCAGACCCTGGAACAGTCCCTGAAACCAACACATGGAGAGAAGAAGCCCTGAAGCCAGCGCCCTTGCCACCGACTCCAGCCTTAGGCCAGGGTTGGAGGGTGGAGGGCATTTAGGGTTTGGCTGCCCCAGGGTGAGGAGGGCAGGATGGGGTACCTTACAGAGGGGGTCGAGGGGAAAGTCCAGATTCTAGAATCCCAGACCTTGGTACTGAGAATCCATGAGTCTTTGTGGGAGCAGCCTTGTCTGTCAGTCCAGAGGGCTTGTCTCTTCAGCTGCCCCACCCCTCACACCCCAGTGAGTGCCCTCTTCCCCCAGTCAGCAGAAGGCCGAGCCCTCCCTCCCCAGGCTGGGCGGGGGTGGTCATGCCAGGCACCTCCTAGCCGGCAGCAGCATTCCTCTGCGGCTTAGCCTCCCTGTCTACTCCCCCCACCCCGGCCCTGAGCCCAGCCCTAGCCCCAGCTTTCTCAGAGGGTCCCTCCAGCCGAGACTCTGTCAGAGTCAGTGTA
Task1_train_28780
This variant affects the gene POLR2F, SOX10 (RNA polymerase II, I and III subunit F| SRY-box transcription factor 10) found on Chromosome 22. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Waardenburg syndrome type 4C
CAACACGGTGAAAAACCATCTCTACTAAAAATACAATAATTAGCTGGGTGTGGTGGCGTGCATCTGTAATCCCAGCTACTTAGGAGGCTGAGGCACAAGAATCGCTTAAACCCAGGAGGCAGACGTTGCAGTGAACCAAGATGGCACCGCTGCACTGCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAACAAAAACAAAAACAAAAAAAAGACAGAGTCTTACTACATTGCCCATGCTGGTCTCAAACTCATGGGCTCAGGTGATCCTCCCACCTCAGCCTCCTGTGTAGCTGGGACTGCGGGCGCATTCCACCATGCCTAGCTTTGTTTCTTCCTGTACTTAATTCACTCGTTTTCATCCCTGCTCCTCTCTCTAGACTATGGGCCCCTGAGGCCAGGGACTGTAGGCTTCTCTGGTTAGTACCCCTGGTGTCCACTCCAGTGTTTGACACAAAGTAGGACTCAGAGCGTGTCCTCTGAAGGCAGAGCTCTGCTCACTGAGCACTTCCCATGTGGCAGACCTGTGTGTGTCACTTTCTGTACATTAGGAACACAGGCAAGGCAGCTGTGGTGCCAAGCAGATGCCCGGGAGCCAAACTGGGGAAGTTCCTGTTTGTTTCTCATCAGTAAAATGAGAGTAACTTGCCACAGCTGAGATCTGAGCCCAGGCAGTTTGGGTACCTCATCACATTGTTTGCAAGGATTGAGTTAGTATACATAAGGCAACTAGCACCTAGCACAGTGCCTGGAACAGAGTAGCTGCTCAATTAAGGTTAGCTGTTATTATCATTAATGAAAATTAAACAAGATAGCTTATGTCTGGCCCATCCATGGCCAGACACGGTATCACATGCCATGTCTCCTCTGTCAGAATGGCTGGTGGGATTTGGGAGGCCGAGGCGGGCAGATTGCCTGAGCTCAGGAGTTTGAGACTGGGCCTGGGCAATATAGTGAAACCCTGTCTCTGCTAAAATACACAAAATGAGCCAGACGTGGCGGTGTGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCCGGGAGGAAAAGGTTGCAGTGCACCGAGATCATGCCACTGCAGTCTAGCCTGGGCGACAGAGTGAGACTCTGTCTCCAGAAAAAAAAAAAAAAGAATGGCTGGTGGGAAAGAGGCAGTGATTTCCTCTCCTCCATTTGCTCTTCCATTTCTCAAAACCATCCTGTCTTCTCCCCCTTTACTTGTAACTGCCCCAGCCACCTCTCACTCCATGACCTCCACAGAGTCTTTTTTTTTTTCTTTCTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCCCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCTCGCCACCACGCCCAGCTAATTTTTTTTATTTTTAGTAGAGATGGGATTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCGGCGGCCTCCACAGTCTTTAACTGGCCCTCTTTGCCCAGTAGGATCAGCCCTGGCCAGAGCCATCTCACCCAGCCACTTCCCCTGGCACCGGAACCCCCATGGAGCTCCCTCTGGGCCCCTGCAGCTCTGCTGGGGCAACTGCACAGCCTGGCACGCTCTCCCTAGAGTCCAGGGTCTCATTGCCATCCAGCCATCTCCTGTCTCCACTGACTGGCCTTGCCCCACCCTCAGCTCTGTCATCAGCACTCACCTGAGGGGTGCTCGGGGTTCCCATCTGACATGGGGGAGCCCTCTCCTGGGTGCCGGTGGTCCAAGTGGGCGCTCTTGTAGTGGGCCTGGATGGCGGCGGTCCCACCTTGCTCGGCCTCCCCACCGGGGCACTCCGCCTCGCCCTGGGCGGCCTTCCCGTTCTTCCGCCGCCTGGGCTGGTACTTGTAGTCCGGGTGGTCTTTCTTGTGCTGCATACGGAGCCGCTCAGCCTCCTCGATGAAGGGGCGCTTGTCACTTTCGTTCAGCAGCCTGGGGTGTGGTGGGAGGCGGAGAGGACAGCAGAGGGGCTGGCGTGAATGCCAGAGCACTCCAGGTTGGCCTCCCTCTGAGTGTCCATCTTGGAAGATGTGAGGCCCTGGGATGGGGCACCCAGAGGACAGGACCCGGGGTGGGGGCTGTGCCCTATGATTTGTGGACTGAGAGATGTGAGGCCCAAGGAATAACAGCCTCAGAGGGCTGCCCCCAAATCTTTCATGGGCTGGAGGGTGAGAGAGGGGTCAGCCCGCTGCTCCTGGCAGCCCCTGAGGAGGAGTTAGAAGTAGGAGTAGAGGTTTCAAGGGGCAGATGCCAGTTCAAGGAAAGGAAAAACTTTCTCATCATCAAAGCTGTCTGCAAGTGGAATTGGCTACTTCAGTGGGGGTGAGCTCCCTGGGACTGAGGGTGGGCAATAGAAGCAGCATGGCTGGGGGAGAACTCAGTCTCTGCTACTTACTAGCTGTGTGTGTGACCTTGAGCAAATTACTTCTCTGAGCCTGAGTTTCTTCACCTATAAAAGGATGATAACATTGGCTTAACTTGGGTGTGGGATTGGCCAGAATAATGGATGTGAGATGCCTTGCACCAGGGCCTGGGAAGCGGGCTGAGCACCTTGAGGAAGAGGTGCTTTTCTTTCTTTCTTTTTTTTTTCTGTGAGGGAATCTCACTCTGTCACCCATGCTAGAGCTCAGTGGTATGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCGGTTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTCCAACTCCTGACCTTAGTTGATCCGCCTGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCCAGCCCAAGAGGTACTTTTCTATTTTTAATTTTTTATTTATTTAGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCCGTGATGCGGTCTCAGCTCACTGCAATCTCGGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGGGTAGCTGGGACTACAGGCACGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATATTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTATAGGCATGAGCCACCGTGCCCGGCCCCAAGAGGTGCTTTTCTAATGCTGCTTGCGGGGGTGGTTGGACAGGAGGATCTAGGGTTGGACTCTTAACTCTGGGTCCTGATTGTGTGAATTCCAGTGTGGTGGGACTGAGGGGGCAGATGTGGCTCCTCTTTACCATGGGTCTGGGTGGGGGGTACTGCCTCCTGTGGGGGATCCTATATCCTTGTCCAGAAAATAGCAGAGAGTAGAGGAAGCTAGCCTCTCCTCAGACCCTGGAACAGTCCCTGAAACCAACACATGGAGAGAAGAAGCCCTGAAGCCAGCGCCCTTGCCACCGACTCCAGCCTTAGGCCAGGGTTGGAGGGTGGAGGGCATTTAGGGTTTGGCTGCCCCAGGGTGAGGAGGGCAGGATGGGGTACCTTACAGAGGGGGTCGAGGGGAAAGTCCAGATTCTAGAATCCCAGACCTTGGTACTGAGAATCCATGAGTCTTTGTGGGAGCAGCCTTGTCTGTCAGTCCAGAGGGCTTGTCTCTTCAGCTGCCCCACCCCTCACACCCCAGTGAGTGCCCTCTTCCCCCAGTCAGCAGAAGGCCGAGCCCTCCCTCCCCAGGCTGGGCGGGGGTGGTCATGCCAGGCACCTCCTAGCCGGCAGCAGCATTCCTCTGCGGCTTAGCCTCCCTGTCTACTCCCCCCACCCCGGCCCTGAGCCCAGCCCTAGCCCCAGCTTTCTCAGAGGGTCCCTCCAGCCGAGACTCTGTCAGAGTCAGTGTA
CAACACGGTGAAAAACCATCTCTACTAAAAATACAATAATTAGCTGGGTGTGGTGGCGTGCATCTGTAATCCCAGCTACTTAGGAGGCTGAGGCACAAGAATCGCTTAAACCCAGGAGGCAGACGTTGCAGTGAACCAAGATGGCACCGCTGCACTGCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAACAAAAACAAAAACAAAAAAAAGACAGAGTCTTACTACATTGCCCATGCTGGTCTCAAACTCATGGGCTCAGGTGATCCTCCCACCTCAGCCTCCTGTGTAGCTGGGACTGCGGGCGCATTCCACCATGCCTAGCTTTGTTTCTTCCTGTACTTAATTCACTCGTTTTCATCCCTGCTCCTCTCTCTAGACTATGGGCCCCTGAGGCCAGGGACTGTAGGCTTCTCTGGTTAGTACCCCTGGTGTCCACTCCAGTGTTTGACACAAAGTAGGACTCAGAGCGTGTCCTCTGAAGGCAGAGCTCTGCTCACTGAGCACTTCCCATGTGGCAGACCTGTGTGTGTCACTTTCTGTACATTAGGAACACAGGCAAGGCAGCTGTGGTGCCAAGCAGATGCCCGGGAGCCAAACTGGGGAAGTTCCTGTTTGTTTCTCATCAGTAAAATGAGAGTAACTTGCCACAGCTGAGATCTGAGCCCAGGCAGTTTGGGTACCTCATCACATTGTTTGCAAGGATTGAGTTAGTATACATAAGGCAACTAGCACCTAGCACAGTGCCTGGAACAGAGTAGCTGCTCAATTAAGGTTAGCTGTTATTATCATTAATGAAAATTAAACAAGATAGCTTATGTCTGGCCCATCCATGGCCAGACACGGTATCACATGCCATGTCTCCTCTGTCAGAATGGCTGGTGGGATTTGGGAGGCCGAGGCGGGCAGATTGCCTGAGCTCAGGAGTTTGAGACTGGGCCTGGGCAATATAGTGAAACCCTGTCTCTGCTAAAATACACAAAATGAGCCAGACGTGGCGGTGTGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCCGGGAGGAAAAGGTTGCAGTGCACCGAGATCATGCCACTGCAGTCTAGCCTGGGCGACAGAGTGAGACTCTGTCTCCAGAAAAAAAAAAAAAAGAATGGCTGGTGGGAAAGAGGCAGTGATTTCCTCTCCTCCATTTGCTCTTCCATTTCTCAAAACCATCCTGTCTTCTCCCCCTTTACTTGTAACTGCCCCAGCCACCTCTCACTCCATGACCTCCACAGAGTCTTTTTTTTTTTCTTTCTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCCCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCTCGCCACCACGCCCAGCTAATTTTTTTTATTTTTAGTAGAGATGGGATTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCGGCGGCCTCCACAGTCTTTAACTGGCCCTCTTTGCCCAGTAGGATCAGCCCTGGCCAGAGCCATCTCACCCAGCCACTTCCCCTGGCACCGGAACCCCCATGGAGCTCCCTCTGGGCCCCTGCAGCTCTGCTGGGGCAACTGCACAGCCTGGCACGCTCTCCCTAGAGTCCAGGGTCTCATTGCCATCCAGCCATCTCCTGTCTCCACTGACTGGCCTTGCCCCACCCTCAGCTCTGTCATCAGCACTCACCTGAGGGGTGCTCGGGGTTCCCATCTGACATGGGGGAGCCCTCTCCTGGGTGCCGGTGGTCCAAGTGGGCGCTCTTGTAGTGGGCCTGGATGGCGGCGGTCCCACCTTGCTCGGCCTCCCCACCGGGGCACTCCGCCTCGCCCTGGGCGGCCTTCCCGTTCTTCCGCCGCCTGGGCTGGTACTTGTAGTCCGGGTGGTCTTTCTTGTGCTGCATACAGAGCCGCTCAGCCTCCTCGATGAAGGGGCGCTTGTCACTTTCGTTCAGCAGCCTGGGGTGTGGTGGGAGGCGGAGAGGACAGCAGAGGGGCTGGCGTGAATGCCAGAGCACTCCAGGTTGGCCTCCCTCTGAGTGTCCATCTTGGAAGATGTGAGGCCCTGGGATGGGGCACCCAGAGGACAGGACCCGGGGTGGGGGCTGTGCCCTATGATTTGTGGACTGAGAGATGTGAGGCCCAAGGAATAACAGCCTCAGAGGGCTGCCCCCAAATCTTTCATGGGCTGGAGGGTGAGAGAGGGGTCAGCCCGCTGCTCCTGGCAGCCCCTGAGGAGGAGTTAGAAGTAGGAGTAGAGGTTTCAAGGGGCAGATGCCAGTTCAAGGAAAGGAAAAACTTTCTCATCATCAAAGCTGTCTGCAAGTGGAATTGGCTACTTCAGTGGGGGTGAGCTCCCTGGGACTGAGGGTGGGCAATAGAAGCAGCATGGCTGGGGGAGAACTCAGTCTCTGCTACTTACTAGCTGTGTGTGTGACCTTGAGCAAATTACTTCTCTGAGCCTGAGTTTCTTCACCTATAAAAGGATGATAACATTGGCTTAACTTGGGTGTGGGATTGGCCAGAATAATGGATGTGAGATGCCTTGCACCAGGGCCTGGGAAGCGGGCTGAGCACCTTGAGGAAGAGGTGCTTTTCTTTCTTTCTTTTTTTTTTCTGTGAGGGAATCTCACTCTGTCACCCATGCTAGAGCTCAGTGGTATGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCGGTTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTCCAACTCCTGACCTTAGTTGATCCGCCTGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCCAGCCCAAGAGGTACTTTTCTATTTTTAATTTTTTATTTATTTAGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCCGTGATGCGGTCTCAGCTCACTGCAATCTCGGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGGGTAGCTGGGACTACAGGCACGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATATTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTATAGGCATGAGCCACCGTGCCCGGCCCCAAGAGGTGCTTTTCTAATGCTGCTTGCGGGGGTGGTTGGACAGGAGGATCTAGGGTTGGACTCTTAACTCTGGGTCCTGATTGTGTGAATTCCAGTGTGGTGGGACTGAGGGGGCAGATGTGGCTCCTCTTTACCATGGGTCTGGGTGGGGGGTACTGCCTCCTGTGGGGGATCCTATATCCTTGTCCAGAAAATAGCAGAGAGTAGAGGAAGCTAGCCTCTCCTCAGACCCTGGAACAGTCCCTGAAACCAACACATGGAGAGAAGAAGCCCTGAAGCCAGCGCCCTTGCCACCGACTCCAGCCTTAGGCCAGGGTTGGAGGGTGGAGGGCATTTAGGGTTTGGCTGCCCCAGGGTGAGGAGGGCAGGATGGGGTACCTTACAGAGGGGGTCGAGGGGAAAGTCCAGATTCTAGAATCCCAGACCTTGGTACTGAGAATCCATGAGTCTTTGTGGGAGCAGCCTTGTCTGTCAGTCCAGAGGGCTTGTCTCTTCAGCTGCCCCACCCCTCACACCCCAGTGAGTGCCCTCTTCCCCCAGTCAGCAGAAGGCCGAGCCCTCCCTCCCCAGGCTGGGCGGGGGTGGTCATGCCAGGCACCTCCTAGCCGGCAGCAGCATTCCTCTGCGGCTTAGCCTCCCTGTCTACTCCCCCCACCCCGGCCCTGAGCCCAGCCCTAGCCCCAGCTTTCTCAGAGGGTCCCTCCAGCCGAGACTCTGTCAGAGTCAGTGTA
Task1_train_28781
A mutation on Chromosome 22 affecting POLR2F, SOX10 (RNA polymerase II, I and III subunit F| SRY-box transcription factor 10) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Waardenburg syndrome type 2E
CAACACGGTGAAAAACCATCTCTACTAAAAATACAATAATTAGCTGGGTGTGGTGGCGTGCATCTGTAATCCCAGCTACTTAGGAGGCTGAGGCACAAGAATCGCTTAAACCCAGGAGGCAGACGTTGCAGTGAACCAAGATGGCACCGCTGCACTGCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAACAAAAACAAAAACAAAAAAAAGACAGAGTCTTACTACATTGCCCATGCTGGTCTCAAACTCATGGGCTCAGGTGATCCTCCCACCTCAGCCTCCTGTGTAGCTGGGACTGCGGGCGCATTCCACCATGCCTAGCTTTGTTTCTTCCTGTACTTAATTCACTCGTTTTCATCCCTGCTCCTCTCTCTAGACTATGGGCCCCTGAGGCCAGGGACTGTAGGCTTCTCTGGTTAGTACCCCTGGTGTCCACTCCAGTGTTTGACACAAAGTAGGACTCAGAGCGTGTCCTCTGAAGGCAGAGCTCTGCTCACTGAGCACTTCCCATGTGGCAGACCTGTGTGTGTCACTTTCTGTACATTAGGAACACAGGCAAGGCAGCTGTGGTGCCAAGCAGATGCCCGGGAGCCAAACTGGGGAAGTTCCTGTTTGTTTCTCATCAGTAAAATGAGAGTAACTTGCCACAGCTGAGATCTGAGCCCAGGCAGTTTGGGTACCTCATCACATTGTTTGCAAGGATTGAGTTAGTATACATAAGGCAACTAGCACCTAGCACAGTGCCTGGAACAGAGTAGCTGCTCAATTAAGGTTAGCTGTTATTATCATTAATGAAAATTAAACAAGATAGCTTATGTCTGGCCCATCCATGGCCAGACACGGTATCACATGCCATGTCTCCTCTGTCAGAATGGCTGGTGGGATTTGGGAGGCCGAGGCGGGCAGATTGCCTGAGCTCAGGAGTTTGAGACTGGGCCTGGGCAATATAGTGAAACCCTGTCTCTGCTAAAATACACAAAATGAGCCAGACGTGGCGGTGTGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCCGGGAGGAAAAGGTTGCAGTGCACCGAGATCATGCCACTGCAGTCTAGCCTGGGCGACAGAGTGAGACTCTGTCTCCAGAAAAAAAAAAAAAAGAATGGCTGGTGGGAAAGAGGCAGTGATTTCCTCTCCTCCATTTGCTCTTCCATTTCTCAAAACCATCCTGTCTTCTCCCCCTTTACTTGTAACTGCCCCAGCCACCTCTCACTCCATGACCTCCACAGAGTCTTTTTTTTTTTCTTTCTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCCCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCTCGCCACCACGCCCAGCTAATTTTTTTTATTTTTAGTAGAGATGGGATTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCGGCGGCCTCCACAGTCTTTAACTGGCCCTCTTTGCCCAGTAGGATCAGCCCTGGCCAGAGCCATCTCACCCAGCCACTTCCCCTGGCACCGGAACCCCCATGGAGCTCCCTCTGGGCCCCTGCAGCTCTGCTGGGGCAACTGCACAGCCTGGCACGCTCTCCCTAGAGTCCAGGGTCTCATTGCCATCCAGCCATCTCCTGTCTCCACTGACTGGCCTTGCCCCACCCTCAGCTCTGTCATCAGCACTCACCTGAGGGGTGCTCGGGGTTCCCATCTGACATGGGGGAGCCCTCTCCTGGGTGCCGGTGGTCCAAGTGGGCGCTCTTGTAGTGGGCCTGGATGGCGGCGGTCCCACCTTGCTCGGCCTCCCCACCGGGGCACTCCGCCTCGCCCTGGGCGGCCTTCCCGTTCTTCCGCCGCCTGGGCTGGTACTTGTAGTCCGGGTGGTCTTTCTTGTGCTGCATACGGAGCCGCTCAGCCTCCTCGATGAAGGGGCGCTTGTCACTTTCGTTCAGCAGCCTGGGGTGTGGTGGGAGGCGGAGAGGACAGCAGAGGGGCTGGCGTGAATGCCAGAGCACTCCAGGTTGGCCTCCCTCTGAGTGTCCATCTTGGAAGATGTGAGGCCCTGGGATGGGGCACCCAGAGGACAGGACCCGGGGTGGGGGCTGTGCCCTATGATTTGTGGACTGAGAGATGTGAGGCCCAAGGAATAACAGCCTCAGAGGGCTGCCCCCAAATCTTTCATGGGCTGGAGGGTGAGAGAGGGGTCAGCCCGCTGCTCCTGGCAGCCCCTGAGGAGGAGTTAGAAGTAGGAGTAGAGGTTTCAAGGGGCAGATGCCAGTTCAAGGAAAGGAAAAACTTTCTCATCATCAAAGCTGTCTGCAAGTGGAATTGGCTACTTCAGTGGGGGTGAGCTCCCTGGGACTGAGGGTGGGCAATAGAAGCAGCATGGCTGGGGGAGAACTCAGTCTCTGCTACTTACTAGCTGTGTGTGTGACCTTGAGCAAATTACTTCTCTGAGCCTGAGTTTCTTCACCTATAAAAGGATGATAACATTGGCTTAACTTGGGTGTGGGATTGGCCAGAATAATGGATGTGAGATGCCTTGCACCAGGGCCTGGGAAGCGGGCTGAGCACCTTGAGGAAGAGGTGCTTTTCTTTCTTTCTTTTTTTTTTCTGTGAGGGAATCTCACTCTGTCACCCATGCTAGAGCTCAGTGGTATGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCGGTTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTCCAACTCCTGACCTTAGTTGATCCGCCTGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCCAGCCCAAGAGGTACTTTTCTATTTTTAATTTTTTATTTATTTAGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCCGTGATGCGGTCTCAGCTCACTGCAATCTCGGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGGGTAGCTGGGACTACAGGCACGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATATTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTATAGGCATGAGCCACCGTGCCCGGCCCCAAGAGGTGCTTTTCTAATGCTGCTTGCGGGGGTGGTTGGACAGGAGGATCTAGGGTTGGACTCTTAACTCTGGGTCCTGATTGTGTGAATTCCAGTGTGGTGGGACTGAGGGGGCAGATGTGGCTCCTCTTTACCATGGGTCTGGGTGGGGGGTACTGCCTCCTGTGGGGGATCCTATATCCTTGTCCAGAAAATAGCAGAGAGTAGAGGAAGCTAGCCTCTCCTCAGACCCTGGAACAGTCCCTGAAACCAACACATGGAGAGAAGAAGCCCTGAAGCCAGCGCCCTTGCCACCGACTCCAGCCTTAGGCCAGGGTTGGAGGGTGGAGGGCATTTAGGGTTTGGCTGCCCCAGGGTGAGGAGGGCAGGATGGGGTACCTTACAGAGGGGGTCGAGGGGAAAGTCCAGATTCTAGAATCCCAGACCTTGGTACTGAGAATCCATGAGTCTTTGTGGGAGCAGCCTTGTCTGTCAGTCCAGAGGGCTTGTCTCTTCAGCTGCCCCACCCCTCACACCCCAGTGAGTGCCCTCTTCCCCCAGTCAGCAGAAGGCCGAGCCCTCCCTCCCCAGGCTGGGCGGGGGTGGTCATGCCAGGCACCTCCTAGCCGGCAGCAGCATTCCTCTGCGGCTTAGCCTCCCTGTCTACTCCCCCCACCCCGGCCCTGAGCCCAGCCCTAGCCCCAGCTTTCTCAGAGGGTCCCTCCAGCCGAGACTCTGTCAGAGTCAGTGTA
CAACACGGTGAAAAACCATCTCTACTAAAAATACAATAATTAGCTGGGTGTGGTGGCGTGCATCTGTAATCCCAGCTACTTAGGAGGCTGAGGCACAAGAATCGCTTAAACCCAGGAGGCAGACGTTGCAGTGAACCAAGATGGCACCGCTGCACTGCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAACAAAAACAAAAACAAAAAAAAGACAGAGTCTTACTACATTGCCCATGCTGGTCTCAAACTCATGGGCTCAGGTGATCCTCCCACCTCAGCCTCCTGTGTAGCTGGGACTGCGGGCGCATTCCACCATGCCTAGCTTTGTTTCTTCCTGTACTTAATTCACTCGTTTTCATCCCTGCTCCTCTCTCTAGACTATGGGCCCCTGAGGCCAGGGACTGTAGGCTTCTCTGGTTAGTACCCCTGGTGTCCACTCCAGTGTTTGACACAAAGTAGGACTCAGAGCGTGTCCTCTGAAGGCAGAGCTCTGCTCACTGAGCACTTCCCATGTGGCAGACCTGTGTGTGTCACTTTCTGTACATTAGGAACACAGGCAAGGCAGCTGTGGTGCCAAGCAGATGCCCGGGAGCCAAACTGGGGAAGTTCCTGTTTGTTTCTCATCAGTAAAATGAGAGTAACTTGCCACAGCTGAGATCTGAGCCCAGGCAGTTTGGGTACCTCATCACATTGTTTGCAAGGATTGAGTTAGTATACATAAGGCAACTAGCACCTAGCACAGTGCCTGGAACAGAGTAGCTGCTCAATTAAGGTTAGCTGTTATTATCATTAATGAAAATTAAACAAGATAGCTTATGTCTGGCCCATCCATGGCCAGACACGGTATCACATGCCATGTCTCCTCTGTCAGAATGGCTGGTGGGATTTGGGAGGCCGAGGCGGGCAGATTGCCTGAGCTCAGGAGTTTGAGACTGGGCCTGGGCAATATAGTGAAACCCTGTCTCTGCTAAAATACACAAAATGAGCCAGACGTGGCGGTGTGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCCGGGAGGAAAAGGTTGCAGTGCACCGAGATCATGCCACTGCAGTCTAGCCTGGGCGACAGAGTGAGACTCTGTCTCCAGAAAAAAAAAAAAAAGAATGGCTGGTGGGAAAGAGGCAGTGATTTCCTCTCCTCCATTTGCTCTTCCATTTCTCAAAACCATCCTGTCTTCTCCCCCTTTACTTGTAACTGCCCCAGCCACCTCTCACTCCATGACCTCCACAGAGTCTTTTTTTTTTTCTTTCTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCCCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCTCGCCACCACGCCCAGCTAATTTTTTTTATTTTTAGTAGAGATGGGATTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCGGCGGCCTCCACAGTCTTTAACTGGCCCTCTTTGCCCAGTAGGATCAGCCCTGGCCAGAGCCATCTCACCCAGCCACTTCCCCTGGCACCGGAACCCCCATGGAGCTCCCTCTGGGCCCCTGCAGCTCTGCTGGGGCAACTGCACAGCCTGGCACGCTCTCCCTAGAGTCCAGGGTCTCATTGCCATCCAGCCATCTCCTGTCTCCACTGACTGGCCTTGCCCCACCCTCAGCTCTGTCATCAGCACTCACCTGAGGGGTGCTCGGGGTTCCCATCTGACATGGGGGAGCCCTCTCCTGGGTGCCGGTGGTCCAAGTGGGCGCTCTTGTAGTGGGCCTGGATGGCGGCGGTCCCACCTTGCTCGGCCTCCCCACCGGGGCACTCCGCCTCGCCCTGGGCGGCCTTCCCGTTCTTCCGCCGCCTGGGCTGGTACTTGTAGTCCGGGTGGTCTTTCTTGTGCTGCATACAGAGCCGCTCAGCCTCCTCGATGAAGGGGCGCTTGTCACTTTCGTTCAGCAGCCTGGGGTGTGGTGGGAGGCGGAGAGGACAGCAGAGGGGCTGGCGTGAATGCCAGAGCACTCCAGGTTGGCCTCCCTCTGAGTGTCCATCTTGGAAGATGTGAGGCCCTGGGATGGGGCACCCAGAGGACAGGACCCGGGGTGGGGGCTGTGCCCTATGATTTGTGGACTGAGAGATGTGAGGCCCAAGGAATAACAGCCTCAGAGGGCTGCCCCCAAATCTTTCATGGGCTGGAGGGTGAGAGAGGGGTCAGCCCGCTGCTCCTGGCAGCCCCTGAGGAGGAGTTAGAAGTAGGAGTAGAGGTTTCAAGGGGCAGATGCCAGTTCAAGGAAAGGAAAAACTTTCTCATCATCAAAGCTGTCTGCAAGTGGAATTGGCTACTTCAGTGGGGGTGAGCTCCCTGGGACTGAGGGTGGGCAATAGAAGCAGCATGGCTGGGGGAGAACTCAGTCTCTGCTACTTACTAGCTGTGTGTGTGACCTTGAGCAAATTACTTCTCTGAGCCTGAGTTTCTTCACCTATAAAAGGATGATAACATTGGCTTAACTTGGGTGTGGGATTGGCCAGAATAATGGATGTGAGATGCCTTGCACCAGGGCCTGGGAAGCGGGCTGAGCACCTTGAGGAAGAGGTGCTTTTCTTTCTTTCTTTTTTTTTTCTGTGAGGGAATCTCACTCTGTCACCCATGCTAGAGCTCAGTGGTATGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCGGTTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTCCAACTCCTGACCTTAGTTGATCCGCCTGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCCAGCCCAAGAGGTACTTTTCTATTTTTAATTTTTTATTTATTTAGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCCGTGATGCGGTCTCAGCTCACTGCAATCTCGGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGGGTAGCTGGGACTACAGGCACGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATATTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTATAGGCATGAGCCACCGTGCCCGGCCCCAAGAGGTGCTTTTCTAATGCTGCTTGCGGGGGTGGTTGGACAGGAGGATCTAGGGTTGGACTCTTAACTCTGGGTCCTGATTGTGTGAATTCCAGTGTGGTGGGACTGAGGGGGCAGATGTGGCTCCTCTTTACCATGGGTCTGGGTGGGGGGTACTGCCTCCTGTGGGGGATCCTATATCCTTGTCCAGAAAATAGCAGAGAGTAGAGGAAGCTAGCCTCTCCTCAGACCCTGGAACAGTCCCTGAAACCAACACATGGAGAGAAGAAGCCCTGAAGCCAGCGCCCTTGCCACCGACTCCAGCCTTAGGCCAGGGTTGGAGGGTGGAGGGCATTTAGGGTTTGGCTGCCCCAGGGTGAGGAGGGCAGGATGGGGTACCTTACAGAGGGGGTCGAGGGGAAAGTCCAGATTCTAGAATCCCAGACCTTGGTACTGAGAATCCATGAGTCTTTGTGGGAGCAGCCTTGTCTGTCAGTCCAGAGGGCTTGTCTCTTCAGCTGCCCCACCCCTCACACCCCAGTGAGTGCCCTCTTCCCCCAGTCAGCAGAAGGCCGAGCCCTCCCTCCCCAGGCTGGGCGGGGGTGGTCATGCCAGGCACCTCCTAGCCGGCAGCAGCATTCCTCTGCGGCTTAGCCTCCCTGTCTACTCCCCCCACCCCGGCCCTGAGCCCAGCCCTAGCCCCAGCTTTCTCAGAGGGTCCCTCCAGCCGAGACTCTGTCAGAGTCAGTGTA
Task1_train_28782
The gene POLR2F, SOX10 (RNA polymerase II, I and III subunit F| SRY-box transcription factor 10) on Chromosome 22 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Deafness with anatomical inner ear anomalies
CAACACGGTGAAAAACCATCTCTACTAAAAATACAATAATTAGCTGGGTGTGGTGGCGTGCATCTGTAATCCCAGCTACTTAGGAGGCTGAGGCACAAGAATCGCTTAAACCCAGGAGGCAGACGTTGCAGTGAACCAAGATGGCACCGCTGCACTGCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAACAAAAACAAAAACAAAAAAAAGACAGAGTCTTACTACATTGCCCATGCTGGTCTCAAACTCATGGGCTCAGGTGATCCTCCCACCTCAGCCTCCTGTGTAGCTGGGACTGCGGGCGCATTCCACCATGCCTAGCTTTGTTTCTTCCTGTACTTAATTCACTCGTTTTCATCCCTGCTCCTCTCTCTAGACTATGGGCCCCTGAGGCCAGGGACTGTAGGCTTCTCTGGTTAGTACCCCTGGTGTCCACTCCAGTGTTTGACACAAAGTAGGACTCAGAGCGTGTCCTCTGAAGGCAGAGCTCTGCTCACTGAGCACTTCCCATGTGGCAGACCTGTGTGTGTCACTTTCTGTACATTAGGAACACAGGCAAGGCAGCTGTGGTGCCAAGCAGATGCCCGGGAGCCAAACTGGGGAAGTTCCTGTTTGTTTCTCATCAGTAAAATGAGAGTAACTTGCCACAGCTGAGATCTGAGCCCAGGCAGTTTGGGTACCTCATCACATTGTTTGCAAGGATTGAGTTAGTATACATAAGGCAACTAGCACCTAGCACAGTGCCTGGAACAGAGTAGCTGCTCAATTAAGGTTAGCTGTTATTATCATTAATGAAAATTAAACAAGATAGCTTATGTCTGGCCCATCCATGGCCAGACACGGTATCACATGCCATGTCTCCTCTGTCAGAATGGCTGGTGGGATTTGGGAGGCCGAGGCGGGCAGATTGCCTGAGCTCAGGAGTTTGAGACTGGGCCTGGGCAATATAGTGAAACCCTGTCTCTGCTAAAATACACAAAATGAGCCAGACGTGGCGGTGTGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCCGGGAGGAAAAGGTTGCAGTGCACCGAGATCATGCCACTGCAGTCTAGCCTGGGCGACAGAGTGAGACTCTGTCTCCAGAAAAAAAAAAAAAAGAATGGCTGGTGGGAAAGAGGCAGTGATTTCCTCTCCTCCATTTGCTCTTCCATTTCTCAAAACCATCCTGTCTTCTCCCCCTTTACTTGTAACTGCCCCAGCCACCTCTCACTCCATGACCTCCACAGAGTCTTTTTTTTTTTCTTTCTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCCCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCTCGCCACCACGCCCAGCTAATTTTTTTTATTTTTAGTAGAGATGGGATTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCGGCGGCCTCCACAGTCTTTAACTGGCCCTCTTTGCCCAGTAGGATCAGCCCTGGCCAGAGCCATCTCACCCAGCCACTTCCCCTGGCACCGGAACCCCCATGGAGCTCCCTCTGGGCCCCTGCAGCTCTGCTGGGGCAACTGCACAGCCTGGCACGCTCTCCCTAGAGTCCAGGGTCTCATTGCCATCCAGCCATCTCCTGTCTCCACTGACTGGCCTTGCCCCACCCTCAGCTCTGTCATCAGCACTCACCTGAGGGGTGCTCGGGGTTCCCATCTGACATGGGGGAGCCCTCTCCTGGGTGCCGGTGGTCCAAGTGGGCGCTCTTGTAGTGGGCCTGGATGGCGGCGGTCCCACCTTGCTCGGCCTCCCCACCGGGGCACTCCGCCTCGCCCTGGGCGGCCTTCCCGTTCTTCCGCCGCCTGGGCTGGTACTTGTAGTCCGGGTGGTCTTTCTTGTGCTGCATACGGAGCCGCTCAGCCTCCTCGATGAAGGGGCGCTTGTCACTTTCGTTCAGCAGCCTGGGGTGTGGTGGGAGGCGGAGAGGACAGCAGAGGGGCTGGCGTGAATGCCAGAGCACTCCAGGTTGGCCTCCCTCTGAGTGTCCATCTTGGAAGATGTGAGGCCCTGGGATGGGGCACCCAGAGGACAGGACCCGGGGTGGGGGCTGTGCCCTATGATTTGTGGACTGAGAGATGTGAGGCCCAAGGAATAACAGCCTCAGAGGGCTGCCCCCAAATCTTTCATGGGCTGGAGGGTGAGAGAGGGGTCAGCCCGCTGCTCCTGGCAGCCCCTGAGGAGGAGTTAGAAGTAGGAGTAGAGGTTTCAAGGGGCAGATGCCAGTTCAAGGAAAGGAAAAACTTTCTCATCATCAAAGCTGTCTGCAAGTGGAATTGGCTACTTCAGTGGGGGTGAGCTCCCTGGGACTGAGGGTGGGCAATAGAAGCAGCATGGCTGGGGGAGAACTCAGTCTCTGCTACTTACTAGCTGTGTGTGTGACCTTGAGCAAATTACTTCTCTGAGCCTGAGTTTCTTCACCTATAAAAGGATGATAACATTGGCTTAACTTGGGTGTGGGATTGGCCAGAATAATGGATGTGAGATGCCTTGCACCAGGGCCTGGGAAGCGGGCTGAGCACCTTGAGGAAGAGGTGCTTTTCTTTCTTTCTTTTTTTTTTCTGTGAGGGAATCTCACTCTGTCACCCATGCTAGAGCTCAGTGGTATGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCGGTTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTCCAACTCCTGACCTTAGTTGATCCGCCTGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCCAGCCCAAGAGGTACTTTTCTATTTTTAATTTTTTATTTATTTAGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCCGTGATGCGGTCTCAGCTCACTGCAATCTCGGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGGGTAGCTGGGACTACAGGCACGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATATTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTATAGGCATGAGCCACCGTGCCCGGCCCCAAGAGGTGCTTTTCTAATGCTGCTTGCGGGGGTGGTTGGACAGGAGGATCTAGGGTTGGACTCTTAACTCTGGGTCCTGATTGTGTGAATTCCAGTGTGGTGGGACTGAGGGGGCAGATGTGGCTCCTCTTTACCATGGGTCTGGGTGGGGGGTACTGCCTCCTGTGGGGGATCCTATATCCTTGTCCAGAAAATAGCAGAGAGTAGAGGAAGCTAGCCTCTCCTCAGACCCTGGAACAGTCCCTGAAACCAACACATGGAGAGAAGAAGCCCTGAAGCCAGCGCCCTTGCCACCGACTCCAGCCTTAGGCCAGGGTTGGAGGGTGGAGGGCATTTAGGGTTTGGCTGCCCCAGGGTGAGGAGGGCAGGATGGGGTACCTTACAGAGGGGGTCGAGGGGAAAGTCCAGATTCTAGAATCCCAGACCTTGGTACTGAGAATCCATGAGTCTTTGTGGGAGCAGCCTTGTCTGTCAGTCCAGAGGGCTTGTCTCTTCAGCTGCCCCACCCCTCACACCCCAGTGAGTGCCCTCTTCCCCCAGTCAGCAGAAGGCCGAGCCCTCCCTCCCCAGGCTGGGCGGGGGTGGTCATGCCAGGCACCTCCTAGCCGGCAGCAGCATTCCTCTGCGGCTTAGCCTCCCTGTCTACTCCCCCCACCCCGGCCCTGAGCCCAGCCCTAGCCCCAGCTTTCTCAGAGGGTCCCTCCAGCCGAGACTCTGTCAGAGTCAGTGTA
CAACACGGTGAAAAACCATCTCTACTAAAAATACAATAATTAGCTGGGTGTGGTGGCGTGCATCTGTAATCCCAGCTACTTAGGAGGCTGAGGCACAAGAATCGCTTAAACCCAGGAGGCAGACGTTGCAGTGAACCAAGATGGCACCGCTGCACTGCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAACAAAAACAAAAACAAAAAAAAGACAGAGTCTTACTACATTGCCCATGCTGGTCTCAAACTCATGGGCTCAGGTGATCCTCCCACCTCAGCCTCCTGTGTAGCTGGGACTGCGGGCGCATTCCACCATGCCTAGCTTTGTTTCTTCCTGTACTTAATTCACTCGTTTTCATCCCTGCTCCTCTCTCTAGACTATGGGCCCCTGAGGCCAGGGACTGTAGGCTTCTCTGGTTAGTACCCCTGGTGTCCACTCCAGTGTTTGACACAAAGTAGGACTCAGAGCGTGTCCTCTGAAGGCAGAGCTCTGCTCACTGAGCACTTCCCATGTGGCAGACCTGTGTGTGTCACTTTCTGTACATTAGGAACACAGGCAAGGCAGCTGTGGTGCCAAGCAGATGCCCGGGAGCCAAACTGGGGAAGTTCCTGTTTGTTTCTCATCAGTAAAATGAGAGTAACTTGCCACAGCTGAGATCTGAGCCCAGGCAGTTTGGGTACCTCATCACATTGTTTGCAAGGATTGAGTTAGTATACATAAGGCAACTAGCACCTAGCACAGTGCCTGGAACAGAGTAGCTGCTCAATTAAGGTTAGCTGTTATTATCATTAATGAAAATTAAACAAGATAGCTTATGTCTGGCCCATCCATGGCCAGACACGGTATCACATGCCATGTCTCCTCTGTCAGAATGGCTGGTGGGATTTGGGAGGCCGAGGCGGGCAGATTGCCTGAGCTCAGGAGTTTGAGACTGGGCCTGGGCAATATAGTGAAACCCTGTCTCTGCTAAAATACACAAAATGAGCCAGACGTGGCGGTGTGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCCGGGAGGAAAAGGTTGCAGTGCACCGAGATCATGCCACTGCAGTCTAGCCTGGGCGACAGAGTGAGACTCTGTCTCCAGAAAAAAAAAAAAAAGAATGGCTGGTGGGAAAGAGGCAGTGATTTCCTCTCCTCCATTTGCTCTTCCATTTCTCAAAACCATCCTGTCTTCTCCCCCTTTACTTGTAACTGCCCCAGCCACCTCTCACTCCATGACCTCCACAGAGTCTTTTTTTTTTTCTTTCTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCCCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCTCGCCACCACGCCCAGCTAATTTTTTTTATTTTTAGTAGAGATGGGATTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCGGCGGCCTCCACAGTCTTTAACTGGCCCTCTTTGCCCAGTAGGATCAGCCCTGGCCAGAGCCATCTCACCCAGCCACTTCCCCTGGCACCGGAACCCCCATGGAGCTCCCTCTGGGCCCCTGCAGCTCTGCTGGGGCAACTGCACAGCCTGGCACGCTCTCCCTAGAGTCCAGGGTCTCATTGCCATCCAGCCATCTCCTGTCTCCACTGACTGGCCTTGCCCCACCCTCAGCTCTGTCATCAGCACTCACCTGAGGGGTGCTCGGGGTTCCCATCTGACATGGGGGAGCCCTCTCCTGGGTGCCGGTGGTCCAAGTGGGCGCTCTTGTAGTGGGCCTGGATGGCGGCGGTCCCACCTTGCTCGGCCTCCCCACCGGGGCACTCCGCCTCGCCCTGGGCGGCCTTCCCGTTCTTCCGCCGCCTGGGCTGGTACTTGTAGTCCGGGTGGTCTTTCTTGTGCTGCATACAGAGCCGCTCAGCCTCCTCGATGAAGGGGCGCTTGTCACTTTCGTTCAGCAGCCTGGGGTGTGGTGGGAGGCGGAGAGGACAGCAGAGGGGCTGGCGTGAATGCCAGAGCACTCCAGGTTGGCCTCCCTCTGAGTGTCCATCTTGGAAGATGTGAGGCCCTGGGATGGGGCACCCAGAGGACAGGACCCGGGGTGGGGGCTGTGCCCTATGATTTGTGGACTGAGAGATGTGAGGCCCAAGGAATAACAGCCTCAGAGGGCTGCCCCCAAATCTTTCATGGGCTGGAGGGTGAGAGAGGGGTCAGCCCGCTGCTCCTGGCAGCCCCTGAGGAGGAGTTAGAAGTAGGAGTAGAGGTTTCAAGGGGCAGATGCCAGTTCAAGGAAAGGAAAAACTTTCTCATCATCAAAGCTGTCTGCAAGTGGAATTGGCTACTTCAGTGGGGGTGAGCTCCCTGGGACTGAGGGTGGGCAATAGAAGCAGCATGGCTGGGGGAGAACTCAGTCTCTGCTACTTACTAGCTGTGTGTGTGACCTTGAGCAAATTACTTCTCTGAGCCTGAGTTTCTTCACCTATAAAAGGATGATAACATTGGCTTAACTTGGGTGTGGGATTGGCCAGAATAATGGATGTGAGATGCCTTGCACCAGGGCCTGGGAAGCGGGCTGAGCACCTTGAGGAAGAGGTGCTTTTCTTTCTTTCTTTTTTTTTTCTGTGAGGGAATCTCACTCTGTCACCCATGCTAGAGCTCAGTGGTATGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCGGTTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTCCAACTCCTGACCTTAGTTGATCCGCCTGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCCAGCCCAAGAGGTACTTTTCTATTTTTAATTTTTTATTTATTTAGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCCGTGATGCGGTCTCAGCTCACTGCAATCTCGGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGGGTAGCTGGGACTACAGGCACGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATATTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTATAGGCATGAGCCACCGTGCCCGGCCCCAAGAGGTGCTTTTCTAATGCTGCTTGCGGGGGTGGTTGGACAGGAGGATCTAGGGTTGGACTCTTAACTCTGGGTCCTGATTGTGTGAATTCCAGTGTGGTGGGACTGAGGGGGCAGATGTGGCTCCTCTTTACCATGGGTCTGGGTGGGGGGTACTGCCTCCTGTGGGGGATCCTATATCCTTGTCCAGAAAATAGCAGAGAGTAGAGGAAGCTAGCCTCTCCTCAGACCCTGGAACAGTCCCTGAAACCAACACATGGAGAGAAGAAGCCCTGAAGCCAGCGCCCTTGCCACCGACTCCAGCCTTAGGCCAGGGTTGGAGGGTGGAGGGCATTTAGGGTTTGGCTGCCCCAGGGTGAGGAGGGCAGGATGGGGTACCTTACAGAGGGGGTCGAGGGGAAAGTCCAGATTCTAGAATCCCAGACCTTGGTACTGAGAATCCATGAGTCTTTGTGGGAGCAGCCTTGTCTGTCAGTCCAGAGGGCTTGTCTCTTCAGCTGCCCCACCCCTCACACCCCAGTGAGTGCCCTCTTCCCCCAGTCAGCAGAAGGCCGAGCCCTCCCTCCCCAGGCTGGGCGGGGGTGGTCATGCCAGGCACCTCCTAGCCGGCAGCAGCATTCCTCTGCGGCTTAGCCTCCCTGTCTACTCCCCCCACCCCGGCCCTGAGCCCAGCCCTAGCCCCAGCTTTCTCAGAGGGTCCCTCCAGCCGAGACTCTGTCAGAGTCAGTGTA
Task1_train_28783
This genomic variant is located on Chromosome 22, within the POLR2F, SOX10 (RNA polymerase II, I and III subunit F| SRY-box transcription factor 10) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Waardenburg syndrome type 4C
ACACGGTGAAAAACCATCTCTACTAAAAATACAATAATTAGCTGGGTGTGGTGGCGTGCATCTGTAATCCCAGCTACTTAGGAGGCTGAGGCACAAGAATCGCTTAAACCCAGGAGGCAGACGTTGCAGTGAACCAAGATGGCACCGCTGCACTGCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAACAAAAACAAAAACAAAAAAAAGACAGAGTCTTACTACATTGCCCATGCTGGTCTCAAACTCATGGGCTCAGGTGATCCTCCCACCTCAGCCTCCTGTGTAGCTGGGACTGCGGGCGCATTCCACCATGCCTAGCTTTGTTTCTTCCTGTACTTAATTCACTCGTTTTCATCCCTGCTCCTCTCTCTAGACTATGGGCCCCTGAGGCCAGGGACTGTAGGCTTCTCTGGTTAGTACCCCTGGTGTCCACTCCAGTGTTTGACACAAAGTAGGACTCAGAGCGTGTCCTCTGAAGGCAGAGCTCTGCTCACTGAGCACTTCCCATGTGGCAGACCTGTGTGTGTCACTTTCTGTACATTAGGAACACAGGCAAGGCAGCTGTGGTGCCAAGCAGATGCCCGGGAGCCAAACTGGGGAAGTTCCTGTTTGTTTCTCATCAGTAAAATGAGAGTAACTTGCCACAGCTGAGATCTGAGCCCAGGCAGTTTGGGTACCTCATCACATTGTTTGCAAGGATTGAGTTAGTATACATAAGGCAACTAGCACCTAGCACAGTGCCTGGAACAGAGTAGCTGCTCAATTAAGGTTAGCTGTTATTATCATTAATGAAAATTAAACAAGATAGCTTATGTCTGGCCCATCCATGGCCAGACACGGTATCACATGCCATGTCTCCTCTGTCAGAATGGCTGGTGGGATTTGGGAGGCCGAGGCGGGCAGATTGCCTGAGCTCAGGAGTTTGAGACTGGGCCTGGGCAATATAGTGAAACCCTGTCTCTGCTAAAATACACAAAATGAGCCAGACGTGGCGGTGTGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCCGGGAGGAAAAGGTTGCAGTGCACCGAGATCATGCCACTGCAGTCTAGCCTGGGCGACAGAGTGAGACTCTGTCTCCAGAAAAAAAAAAAAAAGAATGGCTGGTGGGAAAGAGGCAGTGATTTCCTCTCCTCCATTTGCTCTTCCATTTCTCAAAACCATCCTGTCTTCTCCCCCTTTACTTGTAACTGCCCCAGCCACCTCTCACTCCATGACCTCCACAGAGTCTTTTTTTTTTTCTTTCTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCCCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCTCGCCACCACGCCCAGCTAATTTTTTTTATTTTTAGTAGAGATGGGATTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCGGCGGCCTCCACAGTCTTTAACTGGCCCTCTTTGCCCAGTAGGATCAGCCCTGGCCAGAGCCATCTCACCCAGCCACTTCCCCTGGCACCGGAACCCCCATGGAGCTCCCTCTGGGCCCCTGCAGCTCTGCTGGGGCAACTGCACAGCCTGGCACGCTCTCCCTAGAGTCCAGGGTCTCATTGCCATCCAGCCATCTCCTGTCTCCACTGACTGGCCTTGCCCCACCCTCAGCTCTGTCATCAGCACTCACCTGAGGGGTGCTCGGGGTTCCCATCTGACATGGGGGAGCCCTCTCCTGGGTGCCGGTGGTCCAAGTGGGCGCTCTTGTAGTGGGCCTGGATGGCGGCGGTCCCACCTTGCTCGGCCTCCCCACCGGGGCACTCCGCCTCGCCCTGGGCGGCCTTCCCGTTCTTCCGCCGCCTGGGCTGGTACTTGTAGTCCGGGTGGTCTTTCTTGTGCTGCATACGGAGCCGCTCAGCCTCCTCGATGAAGGGGCGCTTGTCACTTTCGTTCAGCAGCCTGGGGTGTGGTGGGAGGCGGAGAGGACAGCAGAGGGGCTGGCGTGAATGCCAGAGCACTCCAGGTTGGCCTCCCTCTGAGTGTCCATCTTGGAAGATGTGAGGCCCTGGGATGGGGCACCCAGAGGACAGGACCCGGGGTGGGGGCTGTGCCCTATGATTTGTGGACTGAGAGATGTGAGGCCCAAGGAATAACAGCCTCAGAGGGCTGCCCCCAAATCTTTCATGGGCTGGAGGGTGAGAGAGGGGTCAGCCCGCTGCTCCTGGCAGCCCCTGAGGAGGAGTTAGAAGTAGGAGTAGAGGTTTCAAGGGGCAGATGCCAGTTCAAGGAAAGGAAAAACTTTCTCATCATCAAAGCTGTCTGCAAGTGGAATTGGCTACTTCAGTGGGGGTGAGCTCCCTGGGACTGAGGGTGGGCAATAGAAGCAGCATGGCTGGGGGAGAACTCAGTCTCTGCTACTTACTAGCTGTGTGTGTGACCTTGAGCAAATTACTTCTCTGAGCCTGAGTTTCTTCACCTATAAAAGGATGATAACATTGGCTTAACTTGGGTGTGGGATTGGCCAGAATAATGGATGTGAGATGCCTTGCACCAGGGCCTGGGAAGCGGGCTGAGCACCTTGAGGAAGAGGTGCTTTTCTTTCTTTCTTTTTTTTTTCTGTGAGGGAATCTCACTCTGTCACCCATGCTAGAGCTCAGTGGTATGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCGGTTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTCCAACTCCTGACCTTAGTTGATCCGCCTGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCCAGCCCAAGAGGTACTTTTCTATTTTTAATTTTTTATTTATTTAGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCCGTGATGCGGTCTCAGCTCACTGCAATCTCGGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGGGTAGCTGGGACTACAGGCACGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATATTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTATAGGCATGAGCCACCGTGCCCGGCCCCAAGAGGTGCTTTTCTAATGCTGCTTGCGGGGGTGGTTGGACAGGAGGATCTAGGGTTGGACTCTTAACTCTGGGTCCTGATTGTGTGAATTCCAGTGTGGTGGGACTGAGGGGGCAGATGTGGCTCCTCTTTACCATGGGTCTGGGTGGGGGGTACTGCCTCCTGTGGGGGATCCTATATCCTTGTCCAGAAAATAGCAGAGAGTAGAGGAAGCTAGCCTCTCCTCAGACCCTGGAACAGTCCCTGAAACCAACACATGGAGAGAAGAAGCCCTGAAGCCAGCGCCCTTGCCACCGACTCCAGCCTTAGGCCAGGGTTGGAGGGTGGAGGGCATTTAGGGTTTGGCTGCCCCAGGGTGAGGAGGGCAGGATGGGGTACCTTACAGAGGGGGTCGAGGGGAAAGTCCAGATTCTAGAATCCCAGACCTTGGTACTGAGAATCCATGAGTCTTTGTGGGAGCAGCCTTGTCTGTCAGTCCAGAGGGCTTGTCTCTTCAGCTGCCCCACCCCTCACACCCCAGTGAGTGCCCTCTTCCCCCAGTCAGCAGAAGGCCGAGCCCTCCCTCCCCAGGCTGGGCGGGGGTGGTCATGCCAGGCACCTCCTAGCCGGCAGCAGCATTCCTCTGCGGCTTAGCCTCCCTGTCTACTCCCCCCACCCCGGCCCTGAGCCCAGCCCTAGCCCCAGCTTTCTCAGAGGGTCCCTCCAGCCGAGACTCTGTCAGAGTCAGTGTACA
ACACGGTGAAAAACCATCTCTACTAAAAATACAATAATTAGCTGGGTGTGGTGGCGTGCATCTGTAATCCCAGCTACTTAGGAGGCTGAGGCACAAGAATCGCTTAAACCCAGGAGGCAGACGTTGCAGTGAACCAAGATGGCACCGCTGCACTGCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAACAAAAACAAAAACAAAAAAAAGACAGAGTCTTACTACATTGCCCATGCTGGTCTCAAACTCATGGGCTCAGGTGATCCTCCCACCTCAGCCTCCTGTGTAGCTGGGACTGCGGGCGCATTCCACCATGCCTAGCTTTGTTTCTTCCTGTACTTAATTCACTCGTTTTCATCCCTGCTCCTCTCTCTAGACTATGGGCCCCTGAGGCCAGGGACTGTAGGCTTCTCTGGTTAGTACCCCTGGTGTCCACTCCAGTGTTTGACACAAAGTAGGACTCAGAGCGTGTCCTCTGAAGGCAGAGCTCTGCTCACTGAGCACTTCCCATGTGGCAGACCTGTGTGTGTCACTTTCTGTACATTAGGAACACAGGCAAGGCAGCTGTGGTGCCAAGCAGATGCCCGGGAGCCAAACTGGGGAAGTTCCTGTTTGTTTCTCATCAGTAAAATGAGAGTAACTTGCCACAGCTGAGATCTGAGCCCAGGCAGTTTGGGTACCTCATCACATTGTTTGCAAGGATTGAGTTAGTATACATAAGGCAACTAGCACCTAGCACAGTGCCTGGAACAGAGTAGCTGCTCAATTAAGGTTAGCTGTTATTATCATTAATGAAAATTAAACAAGATAGCTTATGTCTGGCCCATCCATGGCCAGACACGGTATCACATGCCATGTCTCCTCTGTCAGAATGGCTGGTGGGATTTGGGAGGCCGAGGCGGGCAGATTGCCTGAGCTCAGGAGTTTGAGACTGGGCCTGGGCAATATAGTGAAACCCTGTCTCTGCTAAAATACACAAAATGAGCCAGACGTGGCGGTGTGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCCGGGAGGAAAAGGTTGCAGTGCACCGAGATCATGCCACTGCAGTCTAGCCTGGGCGACAGAGTGAGACTCTGTCTCCAGAAAAAAAAAAAAAAGAATGGCTGGTGGGAAAGAGGCAGTGATTTCCTCTCCTCCATTTGCTCTTCCATTTCTCAAAACCATCCTGTCTTCTCCCCCTTTACTTGTAACTGCCCCAGCCACCTCTCACTCCATGACCTCCACAGAGTCTTTTTTTTTTTCTTTCTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCCCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCTCGCCACCACGCCCAGCTAATTTTTTTTATTTTTAGTAGAGATGGGATTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCGGCGGCCTCCACAGTCTTTAACTGGCCCTCTTTGCCCAGTAGGATCAGCCCTGGCCAGAGCCATCTCACCCAGCCACTTCCCCTGGCACCGGAACCCCCATGGAGCTCCCTCTGGGCCCCTGCAGCTCTGCTGGGGCAACTGCACAGCCTGGCACGCTCTCCCTAGAGTCCAGGGTCTCATTGCCATCCAGCCATCTCCTGTCTCCACTGACTGGCCTTGCCCCACCCTCAGCTCTGTCATCAGCACTCACCTGAGGGGTGCTCGGGGTTCCCATCTGACATGGGGGAGCCCTCTCCTGGGTGCCGGTGGTCCAAGTGGGCGCTCTTGTAGTGGGCCTGGATGGCGGCGGTCCCACCTTGCTCGGCCTCCCCACCGGGGCACTCCGCCTCGCCCTGGGCGGCCTTCCCGTTCTTCCGCCGCCTGGGCTGGTACTTGTAGTCCGGGTGGTCTTTCTTGTGCTGCATACGGGGCCGCTCAGCCTCCTCGATGAAGGGGCGCTTGTCACTTTCGTTCAGCAGCCTGGGGTGTGGTGGGAGGCGGAGAGGACAGCAGAGGGGCTGGCGTGAATGCCAGAGCACTCCAGGTTGGCCTCCCTCTGAGTGTCCATCTTGGAAGATGTGAGGCCCTGGGATGGGGCACCCAGAGGACAGGACCCGGGGTGGGGGCTGTGCCCTATGATTTGTGGACTGAGAGATGTGAGGCCCAAGGAATAACAGCCTCAGAGGGCTGCCCCCAAATCTTTCATGGGCTGGAGGGTGAGAGAGGGGTCAGCCCGCTGCTCCTGGCAGCCCCTGAGGAGGAGTTAGAAGTAGGAGTAGAGGTTTCAAGGGGCAGATGCCAGTTCAAGGAAAGGAAAAACTTTCTCATCATCAAAGCTGTCTGCAAGTGGAATTGGCTACTTCAGTGGGGGTGAGCTCCCTGGGACTGAGGGTGGGCAATAGAAGCAGCATGGCTGGGGGAGAACTCAGTCTCTGCTACTTACTAGCTGTGTGTGTGACCTTGAGCAAATTACTTCTCTGAGCCTGAGTTTCTTCACCTATAAAAGGATGATAACATTGGCTTAACTTGGGTGTGGGATTGGCCAGAATAATGGATGTGAGATGCCTTGCACCAGGGCCTGGGAAGCGGGCTGAGCACCTTGAGGAAGAGGTGCTTTTCTTTCTTTCTTTTTTTTTTCTGTGAGGGAATCTCACTCTGTCACCCATGCTAGAGCTCAGTGGTATGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCGGTTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTCCAACTCCTGACCTTAGTTGATCCGCCTGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCCAGCCCAAGAGGTACTTTTCTATTTTTAATTTTTTATTTATTTAGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCCGTGATGCGGTCTCAGCTCACTGCAATCTCGGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGGGTAGCTGGGACTACAGGCACGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATATTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTATAGGCATGAGCCACCGTGCCCGGCCCCAAGAGGTGCTTTTCTAATGCTGCTTGCGGGGGTGGTTGGACAGGAGGATCTAGGGTTGGACTCTTAACTCTGGGTCCTGATTGTGTGAATTCCAGTGTGGTGGGACTGAGGGGGCAGATGTGGCTCCTCTTTACCATGGGTCTGGGTGGGGGGTACTGCCTCCTGTGGGGGATCCTATATCCTTGTCCAGAAAATAGCAGAGAGTAGAGGAAGCTAGCCTCTCCTCAGACCCTGGAACAGTCCCTGAAACCAACACATGGAGAGAAGAAGCCCTGAAGCCAGCGCCCTTGCCACCGACTCCAGCCTTAGGCCAGGGTTGGAGGGTGGAGGGCATTTAGGGTTTGGCTGCCCCAGGGTGAGGAGGGCAGGATGGGGTACCTTACAGAGGGGGTCGAGGGGAAAGTCCAGATTCTAGAATCCCAGACCTTGGTACTGAGAATCCATGAGTCTTTGTGGGAGCAGCCTTGTCTGTCAGTCCAGAGGGCTTGTCTCTTCAGCTGCCCCACCCCTCACACCCCAGTGAGTGCCCTCTTCCCCCAGTCAGCAGAAGGCCGAGCCCTCCCTCCCCAGGCTGGGCGGGGGTGGTCATGCCAGGCACCTCCTAGCCGGCAGCAGCATTCCTCTGCGGCTTAGCCTCCCTGTCTACTCCCCCCACCCCGGCCCTGAGCCCAGCCCTAGCCCCAGCTTTCTCAGAGGGTCCCTCCAGCCGAGACTCTGTCAGAGTCAGTGTACA
Task1_train_28784
This genomic variant is located on Chromosome 22, within the POLR2F, SOX10 (RNA polymerase II, I and III subunit F| SRY-box transcription factor 10) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; not provided
AAAACCATCTCTACTAAAAATACAATAATTAGCTGGGTGTGGTGGCGTGCATCTGTAATCCCAGCTACTTAGGAGGCTGAGGCACAAGAATCGCTTAAACCCAGGAGGCAGACGTTGCAGTGAACCAAGATGGCACCGCTGCACTGCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAACAAAAACAAAAACAAAAAAAAGACAGAGTCTTACTACATTGCCCATGCTGGTCTCAAACTCATGGGCTCAGGTGATCCTCCCACCTCAGCCTCCTGTGTAGCTGGGACTGCGGGCGCATTCCACCATGCCTAGCTTTGTTTCTTCCTGTACTTAATTCACTCGTTTTCATCCCTGCTCCTCTCTCTAGACTATGGGCCCCTGAGGCCAGGGACTGTAGGCTTCTCTGGTTAGTACCCCTGGTGTCCACTCCAGTGTTTGACACAAAGTAGGACTCAGAGCGTGTCCTCTGAAGGCAGAGCTCTGCTCACTGAGCACTTCCCATGTGGCAGACCTGTGTGTGTCACTTTCTGTACATTAGGAACACAGGCAAGGCAGCTGTGGTGCCAAGCAGATGCCCGGGAGCCAAACTGGGGAAGTTCCTGTTTGTTTCTCATCAGTAAAATGAGAGTAACTTGCCACAGCTGAGATCTGAGCCCAGGCAGTTTGGGTACCTCATCACATTGTTTGCAAGGATTGAGTTAGTATACATAAGGCAACTAGCACCTAGCACAGTGCCTGGAACAGAGTAGCTGCTCAATTAAGGTTAGCTGTTATTATCATTAATGAAAATTAAACAAGATAGCTTATGTCTGGCCCATCCATGGCCAGACACGGTATCACATGCCATGTCTCCTCTGTCAGAATGGCTGGTGGGATTTGGGAGGCCGAGGCGGGCAGATTGCCTGAGCTCAGGAGTTTGAGACTGGGCCTGGGCAATATAGTGAAACCCTGTCTCTGCTAAAATACACAAAATGAGCCAGACGTGGCGGTGTGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCCGGGAGGAAAAGGTTGCAGTGCACCGAGATCATGCCACTGCAGTCTAGCCTGGGCGACAGAGTGAGACTCTGTCTCCAGAAAAAAAAAAAAAAGAATGGCTGGTGGGAAAGAGGCAGTGATTTCCTCTCCTCCATTTGCTCTTCCATTTCTCAAAACCATCCTGTCTTCTCCCCCTTTACTTGTAACTGCCCCAGCCACCTCTCACTCCATGACCTCCACAGAGTCTTTTTTTTTTTCTTTCTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCCCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCTCGCCACCACGCCCAGCTAATTTTTTTTATTTTTAGTAGAGATGGGATTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCGGCGGCCTCCACAGTCTTTAACTGGCCCTCTTTGCCCAGTAGGATCAGCCCTGGCCAGAGCCATCTCACCCAGCCACTTCCCCTGGCACCGGAACCCCCATGGAGCTCCCTCTGGGCCCCTGCAGCTCTGCTGGGGCAACTGCACAGCCTGGCACGCTCTCCCTAGAGTCCAGGGTCTCATTGCCATCCAGCCATCTCCTGTCTCCACTGACTGGCCTTGCCCCACCCTCAGCTCTGTCATCAGCACTCACCTGAGGGGTGCTCGGGGTTCCCATCTGACATGGGGGAGCCCTCTCCTGGGTGCCGGTGGTCCAAGTGGGCGCTCTTGTAGTGGGCCTGGATGGCGGCGGTCCCACCTTGCTCGGCCTCCCCACCGGGGCACTCCGCCTCGCCCTGGGCGGCCTTCCCGTTCTTCCGCCGCCTGGGCTGGTACTTGTAGTCCGGGTGGTCTTTCTTGTGCTGCATACGGAGCCGCTCAGCCTCCTCGATGAAGGGGCGCTTGTCACTTTCGTTCAGCAGCCTGGGGTGTGGTGGGAGGCGGAGAGGACAGCAGAGGGGCTGGCGTGAATGCCAGAGCACTCCAGGTTGGCCTCCCTCTGAGTGTCCATCTTGGAAGATGTGAGGCCCTGGGATGGGGCACCCAGAGGACAGGACCCGGGGTGGGGGCTGTGCCCTATGATTTGTGGACTGAGAGATGTGAGGCCCAAGGAATAACAGCCTCAGAGGGCTGCCCCCAAATCTTTCATGGGCTGGAGGGTGAGAGAGGGGTCAGCCCGCTGCTCCTGGCAGCCCCTGAGGAGGAGTTAGAAGTAGGAGTAGAGGTTTCAAGGGGCAGATGCCAGTTCAAGGAAAGGAAAAACTTTCTCATCATCAAAGCTGTCTGCAAGTGGAATTGGCTACTTCAGTGGGGGTGAGCTCCCTGGGACTGAGGGTGGGCAATAGAAGCAGCATGGCTGGGGGAGAACTCAGTCTCTGCTACTTACTAGCTGTGTGTGTGACCTTGAGCAAATTACTTCTCTGAGCCTGAGTTTCTTCACCTATAAAAGGATGATAACATTGGCTTAACTTGGGTGTGGGATTGGCCAGAATAATGGATGTGAGATGCCTTGCACCAGGGCCTGGGAAGCGGGCTGAGCACCTTGAGGAAGAGGTGCTTTTCTTTCTTTCTTTTTTTTTTCTGTGAGGGAATCTCACTCTGTCACCCATGCTAGAGCTCAGTGGTATGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCGGTTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTCCAACTCCTGACCTTAGTTGATCCGCCTGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCCAGCCCAAGAGGTACTTTTCTATTTTTAATTTTTTATTTATTTAGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCCGTGATGCGGTCTCAGCTCACTGCAATCTCGGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGGGTAGCTGGGACTACAGGCACGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATATTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTATAGGCATGAGCCACCGTGCCCGGCCCCAAGAGGTGCTTTTCTAATGCTGCTTGCGGGGGTGGTTGGACAGGAGGATCTAGGGTTGGACTCTTAACTCTGGGTCCTGATTGTGTGAATTCCAGTGTGGTGGGACTGAGGGGGCAGATGTGGCTCCTCTTTACCATGGGTCTGGGTGGGGGGTACTGCCTCCTGTGGGGGATCCTATATCCTTGTCCAGAAAATAGCAGAGAGTAGAGGAAGCTAGCCTCTCCTCAGACCCTGGAACAGTCCCTGAAACCAACACATGGAGAGAAGAAGCCCTGAAGCCAGCGCCCTTGCCACCGACTCCAGCCTTAGGCCAGGGTTGGAGGGTGGAGGGCATTTAGGGTTTGGCTGCCCCAGGGTGAGGAGGGCAGGATGGGGTACCTTACAGAGGGGGTCGAGGGGAAAGTCCAGATTCTAGAATCCCAGACCTTGGTACTGAGAATCCATGAGTCTTTGTGGGAGCAGCCTTGTCTGTCAGTCCAGAGGGCTTGTCTCTTCAGCTGCCCCACCCCTCACACCCCAGTGAGTGCCCTCTTCCCCCAGTCAGCAGAAGGCCGAGCCCTCCCTCCCCAGGCTGGGCGGGGGTGGTCATGCCAGGCACCTCCTAGCCGGCAGCAGCATTCCTCTGCGGCTTAGCCTCCCTGTCTACTCCCCCCACCCCGGCCCTGAGCCCAGCCCTAGCCCCAGCTTTCTCAGAGGGTCCCTCCAGCCGAGACTCTGTCAGAGTCAGTGTACACACTTAGGA
AAAACCATCTCTACTAAAAATACAATAATTAGCTGGGTGTGGTGGCGTGCATCTGTAATCCCAGCTACTTAGGAGGCTGAGGCACAAGAATCGCTTAAACCCAGGAGGCAGACGTTGCAGTGAACCAAGATGGCACCGCTGCACTGCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAACAAAAACAAAAACAAAAAAAAGACAGAGTCTTACTACATTGCCCATGCTGGTCTCAAACTCATGGGCTCAGGTGATCCTCCCACCTCAGCCTCCTGTGTAGCTGGGACTGCGGGCGCATTCCACCATGCCTAGCTTTGTTTCTTCCTGTACTTAATTCACTCGTTTTCATCCCTGCTCCTCTCTCTAGACTATGGGCCCCTGAGGCCAGGGACTGTAGGCTTCTCTGGTTAGTACCCCTGGTGTCCACTCCAGTGTTTGACACAAAGTAGGACTCAGAGCGTGTCCTCTGAAGGCAGAGCTCTGCTCACTGAGCACTTCCCATGTGGCAGACCTGTGTGTGTCACTTTCTGTACATTAGGAACACAGGCAAGGCAGCTGTGGTGCCAAGCAGATGCCCGGGAGCCAAACTGGGGAAGTTCCTGTTTGTTTCTCATCAGTAAAATGAGAGTAACTTGCCACAGCTGAGATCTGAGCCCAGGCAGTTTGGGTACCTCATCACATTGTTTGCAAGGATTGAGTTAGTATACATAAGGCAACTAGCACCTAGCACAGTGCCTGGAACAGAGTAGCTGCTCAATTAAGGTTAGCTGTTATTATCATTAATGAAAATTAAACAAGATAGCTTATGTCTGGCCCATCCATGGCCAGACACGGTATCACATGCCATGTCTCCTCTGTCAGAATGGCTGGTGGGATTTGGGAGGCCGAGGCGGGCAGATTGCCTGAGCTCAGGAGTTTGAGACTGGGCCTGGGCAATATAGTGAAACCCTGTCTCTGCTAAAATACACAAAATGAGCCAGACGTGGCGGTGTGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCCGGGAGGAAAAGGTTGCAGTGCACCGAGATCATGCCACTGCAGTCTAGCCTGGGCGACAGAGTGAGACTCTGTCTCCAGAAAAAAAAAAAAAAGAATGGCTGGTGGGAAAGAGGCAGTGATTTCCTCTCCTCCATTTGCTCTTCCATTTCTCAAAACCATCCTGTCTTCTCCCCCTTTACTTGTAACTGCCCCAGCCACCTCTCACTCCATGACCTCCACAGAGTCTTTTTTTTTTTCTTTCTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCCCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCTCGCCACCACGCCCAGCTAATTTTTTTTATTTTTAGTAGAGATGGGATTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCGGCGGCCTCCACAGTCTTTAACTGGCCCTCTTTGCCCAGTAGGATCAGCCCTGGCCAGAGCCATCTCACCCAGCCACTTCCCCTGGCACCGGAACCCCCATGGAGCTCCCTCTGGGCCCCTGCAGCTCTGCTGGGGCAACTGCACAGCCTGGCACGCTCTCCCTAGAGTCCAGGGTCTCATTGCCATCCAGCCATCTCCTGTCTCCACTGACTGGCCTTGCCCCACCCTCAGCTCTGTCATCAGCACTCACCTGAGGGGTGCTCGGGGTTCCCATCTGACATGGGGGAGCCCTCTCCTGGGTGCCGGTGGTCCAAGTGGGCGCTCTTGTAGTGGGCCTGGATGGCGGCGGTCCCACCTTGCTCGGCCTCCCCACCGGGGCACTCCGCCTCGCCCTGGGCGGCCTTCCCGTTCTTCCGCCGCCTGGGCTGGTACTTGTAGTCCGGGTGGTCTTTCTTGTGCTGCATACGGAGCCGCTCAACCTCCTCGATGAAGGGGCGCTTGTCACTTTCGTTCAGCAGCCTGGGGTGTGGTGGGAGGCGGAGAGGACAGCAGAGGGGCTGGCGTGAATGCCAGAGCACTCCAGGTTGGCCTCCCTCTGAGTGTCCATCTTGGAAGATGTGAGGCCCTGGGATGGGGCACCCAGAGGACAGGACCCGGGGTGGGGGCTGTGCCCTATGATTTGTGGACTGAGAGATGTGAGGCCCAAGGAATAACAGCCTCAGAGGGCTGCCCCCAAATCTTTCATGGGCTGGAGGGTGAGAGAGGGGTCAGCCCGCTGCTCCTGGCAGCCCCTGAGGAGGAGTTAGAAGTAGGAGTAGAGGTTTCAAGGGGCAGATGCCAGTTCAAGGAAAGGAAAAACTTTCTCATCATCAAAGCTGTCTGCAAGTGGAATTGGCTACTTCAGTGGGGGTGAGCTCCCTGGGACTGAGGGTGGGCAATAGAAGCAGCATGGCTGGGGGAGAACTCAGTCTCTGCTACTTACTAGCTGTGTGTGTGACCTTGAGCAAATTACTTCTCTGAGCCTGAGTTTCTTCACCTATAAAAGGATGATAACATTGGCTTAACTTGGGTGTGGGATTGGCCAGAATAATGGATGTGAGATGCCTTGCACCAGGGCCTGGGAAGCGGGCTGAGCACCTTGAGGAAGAGGTGCTTTTCTTTCTTTCTTTTTTTTTTCTGTGAGGGAATCTCACTCTGTCACCCATGCTAGAGCTCAGTGGTATGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCGGTTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTCCAACTCCTGACCTTAGTTGATCCGCCTGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCCAGCCCAAGAGGTACTTTTCTATTTTTAATTTTTTATTTATTTAGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCCGTGATGCGGTCTCAGCTCACTGCAATCTCGGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGGGTAGCTGGGACTACAGGCACGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATATTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTATAGGCATGAGCCACCGTGCCCGGCCCCAAGAGGTGCTTTTCTAATGCTGCTTGCGGGGGTGGTTGGACAGGAGGATCTAGGGTTGGACTCTTAACTCTGGGTCCTGATTGTGTGAATTCCAGTGTGGTGGGACTGAGGGGGCAGATGTGGCTCCTCTTTACCATGGGTCTGGGTGGGGGGTACTGCCTCCTGTGGGGGATCCTATATCCTTGTCCAGAAAATAGCAGAGAGTAGAGGAAGCTAGCCTCTCCTCAGACCCTGGAACAGTCCCTGAAACCAACACATGGAGAGAAGAAGCCCTGAAGCCAGCGCCCTTGCCACCGACTCCAGCCTTAGGCCAGGGTTGGAGGGTGGAGGGCATTTAGGGTTTGGCTGCCCCAGGGTGAGGAGGGCAGGATGGGGTACCTTACAGAGGGGGTCGAGGGGAAAGTCCAGATTCTAGAATCCCAGACCTTGGTACTGAGAATCCATGAGTCTTTGTGGGAGCAGCCTTGTCTGTCAGTCCAGAGGGCTTGTCTCTTCAGCTGCCCCACCCCTCACACCCCAGTGAGTGCCCTCTTCCCCCAGTCAGCAGAAGGCCGAGCCCTCCCTCCCCAGGCTGGGCGGGGGTGGTCATGCCAGGCACCTCCTAGCCGGCAGCAGCATTCCTCTGCGGCTTAGCCTCCCTGTCTACTCCCCCCACCCCGGCCCTGAGCCCAGCCCTAGCCCCAGCTTTCTCAGAGGGTCCCTCCAGCCGAGACTCTGTCAGAGTCAGTGTACACACTTAGGA
Task1_train_28785
A variant on Chromosome 22 in gene POLR2F, SOX10 (RNA polymerase II, I and III subunit F| SRY-box transcription factor 10) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Waardenburg syndrome type 4C
CAATAATTAGCTGGGTGTGGTGGCGTGCATCTGTAATCCCAGCTACTTAGGAGGCTGAGGCACAAGAATCGCTTAAACCCAGGAGGCAGACGTTGCAGTGAACCAAGATGGCACCGCTGCACTGCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAACAAAAACAAAAACAAAAAAAAGACAGAGTCTTACTACATTGCCCATGCTGGTCTCAAACTCATGGGCTCAGGTGATCCTCCCACCTCAGCCTCCTGTGTAGCTGGGACTGCGGGCGCATTCCACCATGCCTAGCTTTGTTTCTTCCTGTACTTAATTCACTCGTTTTCATCCCTGCTCCTCTCTCTAGACTATGGGCCCCTGAGGCCAGGGACTGTAGGCTTCTCTGGTTAGTACCCCTGGTGTCCACTCCAGTGTTTGACACAAAGTAGGACTCAGAGCGTGTCCTCTGAAGGCAGAGCTCTGCTCACTGAGCACTTCCCATGTGGCAGACCTGTGTGTGTCACTTTCTGTACATTAGGAACACAGGCAAGGCAGCTGTGGTGCCAAGCAGATGCCCGGGAGCCAAACTGGGGAAGTTCCTGTTTGTTTCTCATCAGTAAAATGAGAGTAACTTGCCACAGCTGAGATCTGAGCCCAGGCAGTTTGGGTACCTCATCACATTGTTTGCAAGGATTGAGTTAGTATACATAAGGCAACTAGCACCTAGCACAGTGCCTGGAACAGAGTAGCTGCTCAATTAAGGTTAGCTGTTATTATCATTAATGAAAATTAAACAAGATAGCTTATGTCTGGCCCATCCATGGCCAGACACGGTATCACATGCCATGTCTCCTCTGTCAGAATGGCTGGTGGGATTTGGGAGGCCGAGGCGGGCAGATTGCCTGAGCTCAGGAGTTTGAGACTGGGCCTGGGCAATATAGTGAAACCCTGTCTCTGCTAAAATACACAAAATGAGCCAGACGTGGCGGTGTGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCCGGGAGGAAAAGGTTGCAGTGCACCGAGATCATGCCACTGCAGTCTAGCCTGGGCGACAGAGTGAGACTCTGTCTCCAGAAAAAAAAAAAAAAGAATGGCTGGTGGGAAAGAGGCAGTGATTTCCTCTCCTCCATTTGCTCTTCCATTTCTCAAAACCATCCTGTCTTCTCCCCCTTTACTTGTAACTGCCCCAGCCACCTCTCACTCCATGACCTCCACAGAGTCTTTTTTTTTTTCTTTCTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCCCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCTCGCCACCACGCCCAGCTAATTTTTTTTATTTTTAGTAGAGATGGGATTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCGGCGGCCTCCACAGTCTTTAACTGGCCCTCTTTGCCCAGTAGGATCAGCCCTGGCCAGAGCCATCTCACCCAGCCACTTCCCCTGGCACCGGAACCCCCATGGAGCTCCCTCTGGGCCCCTGCAGCTCTGCTGGGGCAACTGCACAGCCTGGCACGCTCTCCCTAGAGTCCAGGGTCTCATTGCCATCCAGCCATCTCCTGTCTCCACTGACTGGCCTTGCCCCACCCTCAGCTCTGTCATCAGCACTCACCTGAGGGGTGCTCGGGGTTCCCATCTGACATGGGGGAGCCCTCTCCTGGGTGCCGGTGGTCCAAGTGGGCGCTCTTGTAGTGGGCCTGGATGGCGGCGGTCCCACCTTGCTCGGCCTCCCCACCGGGGCACTCCGCCTCGCCCTGGGCGGCCTTCCCGTTCTTCCGCCGCCTGGGCTGGTACTTGTAGTCCGGGTGGTCTTTCTTGTGCTGCATACGGAGCCGCTCAGCCTCCTCGATGAAGGGGCGCTTGTCACTTTCGTTCAGCAGCCTGGGGTGTGGTGGGAGGCGGAGAGGACAGCAGAGGGGCTGGCGTGAATGCCAGAGCACTCCAGGTTGGCCTCCCTCTGAGTGTCCATCTTGGAAGATGTGAGGCCCTGGGATGGGGCACCCAGAGGACAGGACCCGGGGTGGGGGCTGTGCCCTATGATTTGTGGACTGAGAGATGTGAGGCCCAAGGAATAACAGCCTCAGAGGGCTGCCCCCAAATCTTTCATGGGCTGGAGGGTGAGAGAGGGGTCAGCCCGCTGCTCCTGGCAGCCCCTGAGGAGGAGTTAGAAGTAGGAGTAGAGGTTTCAAGGGGCAGATGCCAGTTCAAGGAAAGGAAAAACTTTCTCATCATCAAAGCTGTCTGCAAGTGGAATTGGCTACTTCAGTGGGGGTGAGCTCCCTGGGACTGAGGGTGGGCAATAGAAGCAGCATGGCTGGGGGAGAACTCAGTCTCTGCTACTTACTAGCTGTGTGTGTGACCTTGAGCAAATTACTTCTCTGAGCCTGAGTTTCTTCACCTATAAAAGGATGATAACATTGGCTTAACTTGGGTGTGGGATTGGCCAGAATAATGGATGTGAGATGCCTTGCACCAGGGCCTGGGAAGCGGGCTGAGCACCTTGAGGAAGAGGTGCTTTTCTTTCTTTCTTTTTTTTTTCTGTGAGGGAATCTCACTCTGTCACCCATGCTAGAGCTCAGTGGTATGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCGGTTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTCCAACTCCTGACCTTAGTTGATCCGCCTGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCCAGCCCAAGAGGTACTTTTCTATTTTTAATTTTTTATTTATTTAGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCCGTGATGCGGTCTCAGCTCACTGCAATCTCGGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGGGTAGCTGGGACTACAGGCACGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATATTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTATAGGCATGAGCCACCGTGCCCGGCCCCAAGAGGTGCTTTTCTAATGCTGCTTGCGGGGGTGGTTGGACAGGAGGATCTAGGGTTGGACTCTTAACTCTGGGTCCTGATTGTGTGAATTCCAGTGTGGTGGGACTGAGGGGGCAGATGTGGCTCCTCTTTACCATGGGTCTGGGTGGGGGGTACTGCCTCCTGTGGGGGATCCTATATCCTTGTCCAGAAAATAGCAGAGAGTAGAGGAAGCTAGCCTCTCCTCAGACCCTGGAACAGTCCCTGAAACCAACACATGGAGAGAAGAAGCCCTGAAGCCAGCGCCCTTGCCACCGACTCCAGCCTTAGGCCAGGGTTGGAGGGTGGAGGGCATTTAGGGTTTGGCTGCCCCAGGGTGAGGAGGGCAGGATGGGGTACCTTACAGAGGGGGTCGAGGGGAAAGTCCAGATTCTAGAATCCCAGACCTTGGTACTGAGAATCCATGAGTCTTTGTGGGAGCAGCCTTGTCTGTCAGTCCAGAGGGCTTGTCTCTTCAGCTGCCCCACCCCTCACACCCCAGTGAGTGCCCTCTTCCCCCAGTCAGCAGAAGGCCGAGCCCTCCCTCCCCAGGCTGGGCGGGGGTGGTCATGCCAGGCACCTCCTAGCCGGCAGCAGCATTCCTCTGCGGCTTAGCCTCCCTGTCTACTCCCCCCACCCCGGCCCTGAGCCCAGCCCTAGCCCCAGCTTTCTCAGAGGGTCCCTCCAGCCGAGACTCTGTCAGAGTCAGTGTACACACTTAGGACAAAGATGCCGGAGCAGGGCCT
CAATAATTAGCTGGGTGTGGTGGCGTGCATCTGTAATCCCAGCTACTTAGGAGGCTGAGGCACAAGAATCGCTTAAACCCAGGAGGCAGACGTTGCAGTGAACCAAGATGGCACCGCTGCACTGCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAACAAAAACAAAAACAAAAAAAAGACAGAGTCTTACTACATTGCCCATGCTGGTCTCAAACTCATGGGCTCAGGTGATCCTCCCACCTCAGCCTCCTGTGTAGCTGGGACTGCGGGCGCATTCCACCATGCCTAGCTTTGTTTCTTCCTGTACTTAATTCACTCGTTTTCATCCCTGCTCCTCTCTCTAGACTATGGGCCCCTGAGGCCAGGGACTGTAGGCTTCTCTGGTTAGTACCCCTGGTGTCCACTCCAGTGTTTGACACAAAGTAGGACTCAGAGCGTGTCCTCTGAAGGCAGAGCTCTGCTCACTGAGCACTTCCCATGTGGCAGACCTGTGTGTGTCACTTTCTGTACATTAGGAACACAGGCAAGGCAGCTGTGGTGCCAAGCAGATGCCCGGGAGCCAAACTGGGGAAGTTCCTGTTTGTTTCTCATCAGTAAAATGAGAGTAACTTGCCACAGCTGAGATCTGAGCCCAGGCAGTTTGGGTACCTCATCACATTGTTTGCAAGGATTGAGTTAGTATACATAAGGCAACTAGCACCTAGCACAGTGCCTGGAACAGAGTAGCTGCTCAATTAAGGTTAGCTGTTATTATCATTAATGAAAATTAAACAAGATAGCTTATGTCTGGCCCATCCATGGCCAGACACGGTATCACATGCCATGTCTCCTCTGTCAGAATGGCTGGTGGGATTTGGGAGGCCGAGGCGGGCAGATTGCCTGAGCTCAGGAGTTTGAGACTGGGCCTGGGCAATATAGTGAAACCCTGTCTCTGCTAAAATACACAAAATGAGCCAGACGTGGCGGTGTGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCCGGGAGGAAAAGGTTGCAGTGCACCGAGATCATGCCACTGCAGTCTAGCCTGGGCGACAGAGTGAGACTCTGTCTCCAGAAAAAAAAAAAAAAGAATGGCTGGTGGGAAAGAGGCAGTGATTTCCTCTCCTCCATTTGCTCTTCCATTTCTCAAAACCATCCTGTCTTCTCCCCCTTTACTTGTAACTGCCCCAGCCACCTCTCACTCCATGACCTCCACAGAGTCTTTTTTTTTTTCTTTCTCTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCCCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCTCGCCACCACGCCCAGCTAATTTTTTTTATTTTTAGTAGAGATGGGATTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCGGCGGCCTCCACAGTCTTTAACTGGCCCTCTTTGCCCAGTAGGATCAGCCCTGGCCAGAGCCATCTCACCCAGCCACTTCCCCTGGCACCGGAACCCCCATGGAGCTCCCTCTGGGCCCCTGCAGCTCTGCTGGGGCAACTGCACAGCCTGGCACGCTCTCCCTAGAGTCCAGGGTCTCATTGCCATCCAGCCATCTCCTGTCTCCACTGACTGGCCTTGCCCCACCCTCAGCTCTGTCATCAGCACTCACCTGAGGGGTGCTCGGGGTTCCCATCTGACATGGGGGAGCCCTCTCCTGGGTGCCGGTGGTCCAAGTGGGCGCTCTTGTAGTGGGCCTGGATGGCGGCGGTCCCACCTTGCTCGGCCTCCCCACCGGGGCACTCCGCCTCGCCCTGGGCGGCCTTCCCGTTCTTCCGCCGCCTGGGCTGGTACTTGTAGTCCGGGTGGTCTTTCTTGTGCTGCATACGGAGCCGCTCAGCCTCCTCGATGAAGGGGCGCTCGTCACTTTCGTTCAGCAGCCTGGGGTGTGGTGGGAGGCGGAGAGGACAGCAGAGGGGCTGGCGTGAATGCCAGAGCACTCCAGGTTGGCCTCCCTCTGAGTGTCCATCTTGGAAGATGTGAGGCCCTGGGATGGGGCACCCAGAGGACAGGACCCGGGGTGGGGGCTGTGCCCTATGATTTGTGGACTGAGAGATGTGAGGCCCAAGGAATAACAGCCTCAGAGGGCTGCCCCCAAATCTTTCATGGGCTGGAGGGTGAGAGAGGGGTCAGCCCGCTGCTCCTGGCAGCCCCTGAGGAGGAGTTAGAAGTAGGAGTAGAGGTTTCAAGGGGCAGATGCCAGTTCAAGGAAAGGAAAAACTTTCTCATCATCAAAGCTGTCTGCAAGTGGAATTGGCTACTTCAGTGGGGGTGAGCTCCCTGGGACTGAGGGTGGGCAATAGAAGCAGCATGGCTGGGGGAGAACTCAGTCTCTGCTACTTACTAGCTGTGTGTGTGACCTTGAGCAAATTACTTCTCTGAGCCTGAGTTTCTTCACCTATAAAAGGATGATAACATTGGCTTAACTTGGGTGTGGGATTGGCCAGAATAATGGATGTGAGATGCCTTGCACCAGGGCCTGGGAAGCGGGCTGAGCACCTTGAGGAAGAGGTGCTTTTCTTTCTTTCTTTTTTTTTTCTGTGAGGGAATCTCACTCTGTCACCCATGCTAGAGCTCAGTGGTATGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCGGTTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTCCAACTCCTGACCTTAGTTGATCCGCCTGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCCAGCCCAAGAGGTACTTTTCTATTTTTAATTTTTTATTTATTTAGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCCGTGATGCGGTCTCAGCTCACTGCAATCTCGGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGGGTAGCTGGGACTACAGGCACGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATATTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGAGATTATAGGCATGAGCCACCGTGCCCGGCCCCAAGAGGTGCTTTTCTAATGCTGCTTGCGGGGGTGGTTGGACAGGAGGATCTAGGGTTGGACTCTTAACTCTGGGTCCTGATTGTGTGAATTCCAGTGTGGTGGGACTGAGGGGGCAGATGTGGCTCCTCTTTACCATGGGTCTGGGTGGGGGGTACTGCCTCCTGTGGGGGATCCTATATCCTTGTCCAGAAAATAGCAGAGAGTAGAGGAAGCTAGCCTCTCCTCAGACCCTGGAACAGTCCCTGAAACCAACACATGGAGAGAAGAAGCCCTGAAGCCAGCGCCCTTGCCACCGACTCCAGCCTTAGGCCAGGGTTGGAGGGTGGAGGGCATTTAGGGTTTGGCTGCCCCAGGGTGAGGAGGGCAGGATGGGGTACCTTACAGAGGGGGTCGAGGGGAAAGTCCAGATTCTAGAATCCCAGACCTTGGTACTGAGAATCCATGAGTCTTTGTGGGAGCAGCCTTGTCTGTCAGTCCAGAGGGCTTGTCTCTTCAGCTGCCCCACCCCTCACACCCCAGTGAGTGCCCTCTTCCCCCAGTCAGCAGAAGGCCGAGCCCTCCCTCCCCAGGCTGGGCGGGGGTGGTCATGCCAGGCACCTCCTAGCCGGCAGCAGCATTCCTCTGCGGCTTAGCCTCCCTGTCTACTCCCCCCACCCCGGCCCTGAGCCCAGCCCTAGCCCCAGCTTTCTCAGAGGGTCCCTCCAGCCGAGACTCTGTCAGAGTCAGTGTACACACTTAGGACAAAGATGCCGGAGCAGGGCCT
Task1_train_28786
Given this variant in gene POLR2F, SOX10 (RNA polymerase II, I and III subunit F| SRY-box transcription factor 10) on Chromosome 22, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; not provided
CCCTCCAGGGTCCAGGGAGCCACCCTCTGTTGGCATTGCCTTTGATCCTTGCCATGGTTCTGGCCCCATCCTCCCATTGGGATTGGGTCCTCAGCAAGTAGTGCCAGTTTTCCTGACTGCCACACCTCAGGCTGGCCCCTGTGCACACAGCTTGAGTGATGGCCAAGAATAAGTCCTCCTGAAGGGAGTCCAAGCCCAGGGTTCTGGGCTGGGGGAACCTGGGGACAGGGACAATGGAGGAGCCAATCTTAAACCCTTGGCAATGGGAGATGGAGGGAAAATGAGGTCCGTCCTTGCTTTGACTCTCGTTGGGCTCGTACTGTGGTCTTCTCATGGTCCCCAGAGTCTGCCCTATCTGTATGTCTCTCCTGGTTGTCTGTTTCTCACTTGCTCTTTGTCCCCTGGCACTAAAGATACTGGCCTGGGCCAAGCCCCACCCAGATCTGGATGGACCTTGGGTGGAGGAGCTAGCTGTGACCTCTGCTCTTGGGCAGAACTGGGCTGTCTGGGTCCACACAGCGGGCTGGTCGCTGAGCCCTGGGCCTGCCCTGGGTGAGCAGGGCACTGAGGGCTGAGAAGGGGCAGGGGAAGGGGCACCAGGTCTTCAGCAAACACATGGCAAGAACAGGCCAGGGGGCGGGATGTGAATCTTTTGGTCTCTTGGAGATCCTCCTGCACCTTCTACCACTCTAAGCCTCTAGACCCAATCTCTACCCAACTGTGGCTGGCAAGGGGGAGGGCAGCGGAAGAGAGCCGGGCTCCTCTGACAAAGCCCTAATTTTCTGGAACCCAGATGCTCCTCACTCTTGTTCTCATCTTCTTGCTTCCCCCCAACCTCCTGACCACTCCTCAAAGTGTAGGTGATCCACCACTGTCACCAGGGTCAGGGGAAGTCCTCTGGACAGAGAGTATGGGAGTCCTGGGTTCTGGCCCTGGCTCTGCTACCAACTTCTATGTGACCTTTGTGATTCCTTTGCCTTTCTGGGCCTGTCTCTTGGTCAGTCTAGCGAGAATCAGGTGACTGCTACCGGCTCACATCTCCTGGAGTCCCTGGTCTCTTTCAGAGCTGCTCTGGCACTCCCGGGTGGGAGTGGGGGACTGTCTTGTTCCACACATCCCCAGGAGGCCTGGCTGAACCCCAGACCTGAGTCGAGGGTGGGATAATTGCTCCCTGCGGGGGATGTTTTTCCTAGAGGTGTGGGCTGGTCCCAGGGAACCTGGGACTCTGAGGGCCCCTGGGCAGGAAGGAGGCCAAGGTTTCCTTCTGGCCAGAGTGCTCAGCTCCAGCTCTGGGGCAGTGGGGAAGAGGTTGCTCAACGTTGGGGTGGGGCCCTGGCAGGGAAGATGGCGCCGAACTGGGAGAGGGAGGAAAGAGATCAGCTTGGTGACTCTGGGGCAGGGCAGGAGGGGGAGCCCCTTACTGTGTGTCCTCTCCCTAGGAGGATGAAGAAGCCCCCAACTCAAAGGAGGGTGGCGTCAGAAAGTCCCAGGGAAGAGCCCTAGGATAGGATGAGGTCCCGCAGCAGCAGATTTGTCCCGCAGTTCTTCATCCCTCACTCTTCCAAAGACTCTCATCTGAATTCCGTTTTCTTTAAACCTCCCCTGAGTTCTCCATCTGACTGCCTCAGTTTCCCTGAATCTCCAGCCAACCCTTTGGTTCTTTCCAAGCGTTTCCCTCGTATCCTCCTGACCACAGCAGCTGGTGGCATAGTGTGCGTATCTGTGGGCAGGAGTTAGTGAAGGCCTCCTTCCCTCCCTCCAAAGCCCCAGGCCCCACGGTCTGCCACCCGCAAAATTCCAACCACGAGGGGGCGCCTTCCTGCCCGCCGCCCCGTAGGGAGACCCGGCCTAGGCCGCTGGAGTTCCGAGTTCCAGGGTCCTTGTGATGGAAGGGCGGGCGCGGCCCCCACACCTGGTCTTCCAGCCCTATCCAAGGAGGACTGCCAGACAGTCCCGCTCTGAGGTGCAGGAGGCCGGGCCGCCTCGGCTACCCTGAATCCACCCGAAGCTAGAGGGCCCGAGCCCGGGGGGCGGTCGGGTGCTCACCTCCAGAGCTTGCCCAGCGTCTTGCTGAGCTCAGCGTTGTGCAGGTGCGGGTACTGGTCCGCGAGCTTCCTGCGCGCTGCCTGAGCCCACACCATGAAGGCGTTCATGGGCCGCTTGACGTGCGGCTTGCTTTTGCTGGCGCCGTTGACGCGCACGGGCATGGGCACCAGCGTCCAGTCGTAGCCGCTGAGCACCTGGCTGACGGCCTCGCGGATGCACACGGGGAACTTGTCATCGTCCGCCTCGCCGTCCTGCTGCTCCTTCTTGACCTTGCCCAGCTCGCCTGGCCCCGGGCTGGCTCGCAGGCCCGATCCGCCGCCGCCGCCGTCGGGCCCTAGCGAGGGCGCGCTCCCCGGGGACAGGCAGCGGGGCTCCTCCGAGCCCACGGGGCTCAGCTCCACCTCCGATAGGTCCTGCTCCTCCGCCATGTCGCCCCCGGCCGCCGCCGCCGCCGCCTCGGCCGCCTCCCCCGGGCCAGCCGCCGGGGTCCTCGCAAAGAGTCCAACGCCCACCTGGATGGAAGGAGGGCGCGATGGAGCGGCCGCGCGCGCAGCCCCGAGGGCGGCCCGAGACAGGACGTGGGCACAGCCCCGAGGTGGCGGCCCTTCCTGCTCCAGCTAAACCCATCTGGCCCCTGGGGCCCACGCACATGCCAGACTCTAGGTGGGTGCGTCCCGCCTCTGTGTCTTCCCACCACCTGGTCCCAACCGTCTCTTGGTGTGGGTGGCTTTTTTTTTAGCCTCCTTTTTTGGGTGGAGGTTTGTTGATGATAAGGAAGAAAAAAACGGAGCCTTTATTTTGCTCTAATCCCGGCCCCTGGAATTTCCCACCTTTTCTCTCACCTTTCCTTCTTCCCTCAGCCTGCCCCAACGGGGTTTAGAGGAGAGCCAGGTGGGGGGCAAGGGCGGGGTGTCGCCTCTCTCCACCTCACAGCAGGGTCCCAGGCCTGGGCGGGCCAGGGAGGAGCAGGCTGCGCACTCACCTCCTCGGACCTCTCCTCCAGTCTGGGGCTCGTCCTTAGGAAGTGGAAAACCGTGTCCCAAGGTGTGCGGTCCAGCTCGGGGCTGGGAGGTGACGCTGGTGGGCTGGGAGGGAGGGGCGGGGGGCCCTGAGCCTCAGGCCACGGCCTCGTTAGGACGGAGCCTGAATCCTTACCACCAACCACCCTGGCCGGACAGCCCGAGACTGACTGAGCGACTGAGCCTGAGCCGCTGCGGAGGGCTGGGGAAGGAAGGAGGGGGAGAGGGGGGAGGGGAGAGGAGGGAGGGAAGGGCAGAAGGTGGAGCCTCCAGGCTTTCCTTCATCCCCAACACTCAGGGCTCCTCCACCCGGAGCCCAGGCCCCCCCACCCAGCTCCCTGCCCTACTGCCCAGGCCCATCTTGCTGAGGCTTATCTTGGGCTTAGTCTGGGAGGTGGAGGGGAGGTTAGGCCGAGGAAGGAAGAGATGTAGGCTGGAGGGTCAGAACCTGTTGGATGGAAGAAAATTGGGCCCAACCAGGACTCCTAACGTCTGCCTCAGGTGGCAGGATGGGCACTTGGCAGGGGACTAGGGAGAGACGTGAAGGCGGTGAGGGTCCTGGGGGCCCGTGAGGGTGGCTGGCCCTAGCTGCTTCGTCTGCGAAATCCTGTTGAGTGCCTAGTGTGTGCCAGGCACTGATGCCCAGCTCCTCACCCTGCCTCCTACCTTTTCCCAGGCAGCCCTTTCTGCCCCATCCTGCACAGTAAGAGAGACTTCTCAGGGATCCCTCTGAGAAGTGCAGAGCCCCAGCTTGACCCCTGGTCCCTTCTCTGCAGACACCCAGCACACGCGCGTTCTGGTCTGGTTCAAGGTGGAAACACAAGACTAAAGCTGCCAGGAGGCCAAGGTGGGACAGGTTGGGGGCCCTCTCTCAGTAGGTCTTAGAGGCATTTTGGGTTGCTACCTACTGGGACCCAGCTCCTTCCACACTGGGCTCACCCTGTCTTGGGAGAGGGTAGGGGAGTCCTAGTCCTGATTGTCACGAAGTCCTCTACTCCCCCACCCCAACAAGGGGTGGGGACTTGCCCTGC
CCCTCCAGGGTCCAGGGAGCCACCCTCTGTTGGCATTGCCTTTGATCCTTGCCATGGTTCTGGCCCCATCCTCCCATTGGGATTGGGTCCTCAGCAAGTAGTGCCAGTTTTCCTGACTGCCACACCTCAGGCTGGCCCCTGTGCACACAGCTTGAGTGATGGCCAAGAATAAGTCCTCCTGAAGGGAGTCCAAGCCCAGGGTTCTGGGCTGGGGGAACCTGGGGACAGGGACAATGGAGGAGCCAATCTTAAACCCTTGGCAATGGGAGATGGAGGGAAAATGAGGTCCGTCCTTGCTTTGACTCTCGTTGGGCTCGTACTGTGGTCTTCTCATGGTCCCCAGAGTCTGCCCTATCTGTATGTCTCTCCTGGTTGTCTGTTTCTCACTTGCTCTTTGTCCCCTGGCACTAAAGATACTGGCCTGGGCCAAGCCCCACCCAGATCTGGATGGACCTTGGGTGGAGGAGCTAGCTGTGACCTCTGCTCTTGGGCAGAACTGGGCTGTCTGGGTCCACACAGCGGGCTGGTCGCTGAGCCCTGGGCCTGCCCTGGGTGAGCAGGGCACTGAGGGCTGAGAAGGGGCAGGGGAAGGGGCACCAGGTCTTCAGCAAACACATGGCAAGAACAGGCCAGGGGGCGGGATGTGAATCTTTTGGTCTCTTGGAGATCCTCCTGCACCTTCTACCACTCTAAGCCTCTAGACCCAATCTCTACCCAACTGTGGCTGGCAAGGGGGAGGGCAGCGGAAGAGAGCCGGGCTCCTCTGACAAAGCCCTAATTTTCTGGAACCCAGATGCTCCTCACTCTTGTTCTCATCTTCTTGCTTCCCCCCAACCTCCTGACCACTCCTCAAAGTGTAGGTGATCCACCACTGTCACCAGGGTCAGGGGAAGTCCTCTGGACAGAGAGTATGGGAGTCCTGGGTTCTGGCCCTGGCTCTGCTACCAACTTCTATGTGACCTTTGTGATTCCTTTGCCTTTCTGGGCCTGTCTCTTGGTCAGTCTAGCGAGAATCAGGTGACTGCTACCGGCTCACATCTCCTGGAGTCCCTGGTCTCTTTCAGAGCTGCTCTGGCACTCCCGGGTGGGAGTGGGGGACTGTCTTGTTCCACACATCCCCAGGAGGCCTGGCTGAACCCCAGACCTGAGTCGAGGGTGGGATAATTGCTCCCTGCGGGGGATGTTTTTCCTAGAGGTGTGGGCTGGTCCCAGGGAACCTGGGACTCTGAGGGCCCCTGGGCAGGAAGGAGGCCAAGGTTTCCTTCTGGCCAGAGTGCTCAGCTCCAGCTCTGGGGCAGTGGGGAAGAGGTTGCTCAACGTTGGGGTGGGGCCCTGGCAGGGAAGATGGCGCCGAACTGGGAGAGGGAGGAAAGAGATCAGCTTGGTGACTCTGGGGCAGGGCAGGAGGGGGAGCCCCTTACTGTGTGTCCTCTCCCTAGGAGGATGAAGAAGCCCCCAACTCAAAGGAGGGTGGCGTCAGAAAGTCCCAGGGAAGAGCCCTAGGATAGGATGAGGTCCCGCAGCAGCAGATTTGTCCCGCAGTTCTTCATCCCTCACTCTTCCAAAGACTCTCATCTGAATTCCGTTTTCTTTAAACCTCCCCTGAGTTCTCCATCTGACTGCCTCAGTTTCCCTGAATCTCCAGCCAACCCTTTGGTTCTTTCCAAGCGTTTCCCTCGTATCCTCCTGACCACAGCAGCTGGTGGCATAGTGTGCGTATCTGTGGGCAGGAGTTAGTGAAGGCCTCCTTCCCTCCCTCCAAAGCCCCAGGCCCCACGGTCTGCCACCCGCAAAATTCCAACCACGAGGGGGCGCCTTCCTGCCCGCCGCCCCGTAGGGAGACCCGGCCTAGGCCGCTGGAGTTCCGAGTTCCAGGGTCCTTGTGATGGAAGGGCGGGCGCGGCCCCCACACCTGGTCTTCCAGCCCTATCCAAGGAGGACTGCCAGACAGTCCCGCTCTGAGGTGCAGGAGGCCGGGCCGCCTCGGCTACCCTGAATCCACCCGAAGCTAGAGGGCCCGAGCCCGGGGGGCGGTCGGGTGCTCACCTACAGAGCTTGCCCAGCGTCTTGCTGAGCTCAGCGTTGTGCAGGTGCGGGTACTGGTCCGCGAGCTTCCTGCGCGCTGCCTGAGCCCACACCATGAAGGCGTTCATGGGCCGCTTGACGTGCGGCTTGCTTTTGCTGGCGCCGTTGACGCGCACGGGCATGGGCACCAGCGTCCAGTCGTAGCCGCTGAGCACCTGGCTGACGGCCTCGCGGATGCACACGGGGAACTTGTCATCGTCCGCCTCGCCGTCCTGCTGCTCCTTCTTGACCTTGCCCAGCTCGCCTGGCCCCGGGCTGGCTCGCAGGCCCGATCCGCCGCCGCCGCCGTCGGGCCCTAGCGAGGGCGCGCTCCCCGGGGACAGGCAGCGGGGCTCCTCCGAGCCCACGGGGCTCAGCTCCACCTCCGATAGGTCCTGCTCCTCCGCCATGTCGCCCCCGGCCGCCGCCGCCGCCGCCTCGGCCGCCTCCCCCGGGCCAGCCGCCGGGGTCCTCGCAAAGAGTCCAACGCCCACCTGGATGGAAGGAGGGCGCGATGGAGCGGCCGCGCGCGCAGCCCCGAGGGCGGCCCGAGACAGGACGTGGGCACAGCCCCGAGGTGGCGGCCCTTCCTGCTCCAGCTAAACCCATCTGGCCCCTGGGGCCCACGCACATGCCAGACTCTAGGTGGGTGCGTCCCGCCTCTGTGTCTTCCCACCACCTGGTCCCAACCGTCTCTTGGTGTGGGTGGCTTTTTTTTTAGCCTCCTTTTTTGGGTGGAGGTTTGTTGATGATAAGGAAGAAAAAAACGGAGCCTTTATTTTGCTCTAATCCCGGCCCCTGGAATTTCCCACCTTTTCTCTCACCTTTCCTTCTTCCCTCAGCCTGCCCCAACGGGGTTTAGAGGAGAGCCAGGTGGGGGGCAAGGGCGGGGTGTCGCCTCTCTCCACCTCACAGCAGGGTCCCAGGCCTGGGCGGGCCAGGGAGGAGCAGGCTGCGCACTCACCTCCTCGGACCTCTCCTCCAGTCTGGGGCTCGTCCTTAGGAAGTGGAAAACCGTGTCCCAAGGTGTGCGGTCCAGCTCGGGGCTGGGAGGTGACGCTGGTGGGCTGGGAGGGAGGGGCGGGGGGCCCTGAGCCTCAGGCCACGGCCTCGTTAGGACGGAGCCTGAATCCTTACCACCAACCACCCTGGCCGGACAGCCCGAGACTGACTGAGCGACTGAGCCTGAGCCGCTGCGGAGGGCTGGGGAAGGAAGGAGGGGGAGAGGGGGGAGGGGAGAGGAGGGAGGGAAGGGCAGAAGGTGGAGCCTCCAGGCTTTCCTTCATCCCCAACACTCAGGGCTCCTCCACCCGGAGCCCAGGCCCCCCCACCCAGCTCCCTGCCCTACTGCCCAGGCCCATCTTGCTGAGGCTTATCTTGGGCTTAGTCTGGGAGGTGGAGGGGAGGTTAGGCCGAGGAAGGAAGAGATGTAGGCTGGAGGGTCAGAACCTGTTGGATGGAAGAAAATTGGGCCCAACCAGGACTCCTAACGTCTGCCTCAGGTGGCAGGATGGGCACTTGGCAGGGGACTAGGGAGAGACGTGAAGGCGGTGAGGGTCCTGGGGGCCCGTGAGGGTGGCTGGCCCTAGCTGCTTCGTCTGCGAAATCCTGTTGAGTGCCTAGTGTGTGCCAGGCACTGATGCCCAGCTCCTCACCCTGCCTCCTACCTTTTCCCAGGCAGCCCTTTCTGCCCCATCCTGCACAGTAAGAGAGACTTCTCAGGGATCCCTCTGAGAAGTGCAGAGCCCCAGCTTGACCCCTGGTCCCTTCTCTGCAGACACCCAGCACACGCGCGTTCTGGTCTGGTTCAAGGTGGAAACACAAGACTAAAGCTGCCAGGAGGCCAAGGTGGGACAGGTTGGGGGCCCTCTCTCAGTAGGTCTTAGAGGCATTTTGGGTTGCTACCTACTGGGACCCAGCTCCTTCCACACTGGGCTCACCCTGTCTTGGGAGAGGGTAGGGGAGTCCTAGTCCTGATTGTCACGAAGTCCTCTACTCCCCCACCCCAACAAGGGGTGGGGACTTGCCCTGC
Task1_train_28787
Here is a mutation in POLR2F, SOX10 (RNA polymerase II, I and III subunit F| SRY-box transcription factor 10) on Chromosome 22. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; PCWH syndrome
CCTCCAGGGTCCAGGGAGCCACCCTCTGTTGGCATTGCCTTTGATCCTTGCCATGGTTCTGGCCCCATCCTCCCATTGGGATTGGGTCCTCAGCAAGTAGTGCCAGTTTTCCTGACTGCCACACCTCAGGCTGGCCCCTGTGCACACAGCTTGAGTGATGGCCAAGAATAAGTCCTCCTGAAGGGAGTCCAAGCCCAGGGTTCTGGGCTGGGGGAACCTGGGGACAGGGACAATGGAGGAGCCAATCTTAAACCCTTGGCAATGGGAGATGGAGGGAAAATGAGGTCCGTCCTTGCTTTGACTCTCGTTGGGCTCGTACTGTGGTCTTCTCATGGTCCCCAGAGTCTGCCCTATCTGTATGTCTCTCCTGGTTGTCTGTTTCTCACTTGCTCTTTGTCCCCTGGCACTAAAGATACTGGCCTGGGCCAAGCCCCACCCAGATCTGGATGGACCTTGGGTGGAGGAGCTAGCTGTGACCTCTGCTCTTGGGCAGAACTGGGCTGTCTGGGTCCACACAGCGGGCTGGTCGCTGAGCCCTGGGCCTGCCCTGGGTGAGCAGGGCACTGAGGGCTGAGAAGGGGCAGGGGAAGGGGCACCAGGTCTTCAGCAAACACATGGCAAGAACAGGCCAGGGGGCGGGATGTGAATCTTTTGGTCTCTTGGAGATCCTCCTGCACCTTCTACCACTCTAAGCCTCTAGACCCAATCTCTACCCAACTGTGGCTGGCAAGGGGGAGGGCAGCGGAAGAGAGCCGGGCTCCTCTGACAAAGCCCTAATTTTCTGGAACCCAGATGCTCCTCACTCTTGTTCTCATCTTCTTGCTTCCCCCCAACCTCCTGACCACTCCTCAAAGTGTAGGTGATCCACCACTGTCACCAGGGTCAGGGGAAGTCCTCTGGACAGAGAGTATGGGAGTCCTGGGTTCTGGCCCTGGCTCTGCTACCAACTTCTATGTGACCTTTGTGATTCCTTTGCCTTTCTGGGCCTGTCTCTTGGTCAGTCTAGCGAGAATCAGGTGACTGCTACCGGCTCACATCTCCTGGAGTCCCTGGTCTCTTTCAGAGCTGCTCTGGCACTCCCGGGTGGGAGTGGGGGACTGTCTTGTTCCACACATCCCCAGGAGGCCTGGCTGAACCCCAGACCTGAGTCGAGGGTGGGATAATTGCTCCCTGCGGGGGATGTTTTTCCTAGAGGTGTGGGCTGGTCCCAGGGAACCTGGGACTCTGAGGGCCCCTGGGCAGGAAGGAGGCCAAGGTTTCCTTCTGGCCAGAGTGCTCAGCTCCAGCTCTGGGGCAGTGGGGAAGAGGTTGCTCAACGTTGGGGTGGGGCCCTGGCAGGGAAGATGGCGCCGAACTGGGAGAGGGAGGAAAGAGATCAGCTTGGTGACTCTGGGGCAGGGCAGGAGGGGGAGCCCCTTACTGTGTGTCCTCTCCCTAGGAGGATGAAGAAGCCCCCAACTCAAAGGAGGGTGGCGTCAGAAAGTCCCAGGGAAGAGCCCTAGGATAGGATGAGGTCCCGCAGCAGCAGATTTGTCCCGCAGTTCTTCATCCCTCACTCTTCCAAAGACTCTCATCTGAATTCCGTTTTCTTTAAACCTCCCCTGAGTTCTCCATCTGACTGCCTCAGTTTCCCTGAATCTCCAGCCAACCCTTTGGTTCTTTCCAAGCGTTTCCCTCGTATCCTCCTGACCACAGCAGCTGGTGGCATAGTGTGCGTATCTGTGGGCAGGAGTTAGTGAAGGCCTCCTTCCCTCCCTCCAAAGCCCCAGGCCCCACGGTCTGCCACCCGCAAAATTCCAACCACGAGGGGGCGCCTTCCTGCCCGCCGCCCCGTAGGGAGACCCGGCCTAGGCCGCTGGAGTTCCGAGTTCCAGGGTCCTTGTGATGGAAGGGCGGGCGCGGCCCCCACACCTGGTCTTCCAGCCCTATCCAAGGAGGACTGCCAGACAGTCCCGCTCTGAGGTGCAGGAGGCCGGGCCGCCTCGGCTACCCTGAATCCACCCGAAGCTAGAGGGCCCGAGCCCGGGGGGCGGTCGGGTGCTCACCTCCAGAGCTTGCCCAGCGTCTTGCTGAGCTCAGCGTTGTGCAGGTGCGGGTACTGGTCCGCGAGCTTCCTGCGCGCTGCCTGAGCCCACACCATGAAGGCGTTCATGGGCCGCTTGACGTGCGGCTTGCTTTTGCTGGCGCCGTTGACGCGCACGGGCATGGGCACCAGCGTCCAGTCGTAGCCGCTGAGCACCTGGCTGACGGCCTCGCGGATGCACACGGGGAACTTGTCATCGTCCGCCTCGCCGTCCTGCTGCTCCTTCTTGACCTTGCCCAGCTCGCCTGGCCCCGGGCTGGCTCGCAGGCCCGATCCGCCGCCGCCGCCGTCGGGCCCTAGCGAGGGCGCGCTCCCCGGGGACAGGCAGCGGGGCTCCTCCGAGCCCACGGGGCTCAGCTCCACCTCCGATAGGTCCTGCTCCTCCGCCATGTCGCCCCCGGCCGCCGCCGCCGCCGCCTCGGCCGCCTCCCCCGGGCCAGCCGCCGGGGTCCTCGCAAAGAGTCCAACGCCCACCTGGATGGAAGGAGGGCGCGATGGAGCGGCCGCGCGCGCAGCCCCGAGGGCGGCCCGAGACAGGACGTGGGCACAGCCCCGAGGTGGCGGCCCTTCCTGCTCCAGCTAAACCCATCTGGCCCCTGGGGCCCACGCACATGCCAGACTCTAGGTGGGTGCGTCCCGCCTCTGTGTCTTCCCACCACCTGGTCCCAACCGTCTCTTGGTGTGGGTGGCTTTTTTTTTAGCCTCCTTTTTTGGGTGGAGGTTTGTTGATGATAAGGAAGAAAAAAACGGAGCCTTTATTTTGCTCTAATCCCGGCCCCTGGAATTTCCCACCTTTTCTCTCACCTTTCCTTCTTCCCTCAGCCTGCCCCAACGGGGTTTAGAGGAGAGCCAGGTGGGGGGCAAGGGCGGGGTGTCGCCTCTCTCCACCTCACAGCAGGGTCCCAGGCCTGGGCGGGCCAGGGAGGAGCAGGCTGCGCACTCACCTCCTCGGACCTCTCCTCCAGTCTGGGGCTCGTCCTTAGGAAGTGGAAAACCGTGTCCCAAGGTGTGCGGTCCAGCTCGGGGCTGGGAGGTGACGCTGGTGGGCTGGGAGGGAGGGGCGGGGGGCCCTGAGCCTCAGGCCACGGCCTCGTTAGGACGGAGCCTGAATCCTTACCACCAACCACCCTGGCCGGACAGCCCGAGACTGACTGAGCGACTGAGCCTGAGCCGCTGCGGAGGGCTGGGGAAGGAAGGAGGGGGAGAGGGGGGAGGGGAGAGGAGGGAGGGAAGGGCAGAAGGTGGAGCCTCCAGGCTTTCCTTCATCCCCAACACTCAGGGCTCCTCCACCCGGAGCCCAGGCCCCCCCACCCAGCTCCCTGCCCTACTGCCCAGGCCCATCTTGCTGAGGCTTATCTTGGGCTTAGTCTGGGAGGTGGAGGGGAGGTTAGGCCGAGGAAGGAAGAGATGTAGGCTGGAGGGTCAGAACCTGTTGGATGGAAGAAAATTGGGCCCAACCAGGACTCCTAACGTCTGCCTCAGGTGGCAGGATGGGCACTTGGCAGGGGACTAGGGAGAGACGTGAAGGCGGTGAGGGTCCTGGGGGCCCGTGAGGGTGGCTGGCCCTAGCTGCTTCGTCTGCGAAATCCTGTTGAGTGCCTAGTGTGTGCCAGGCACTGATGCCCAGCTCCTCACCCTGCCTCCTACCTTTTCCCAGGCAGCCCTTTCTGCCCCATCCTGCACAGTAAGAGAGACTTCTCAGGGATCCCTCTGAGAAGTGCAGAGCCCCAGCTTGACCCCTGGTCCCTTCTCTGCAGACACCCAGCACACGCGCGTTCTGGTCTGGTTCAAGGTGGAAACACAAGACTAAAGCTGCCAGGAGGCCAAGGTGGGACAGGTTGGGGGCCCTCTCTCAGTAGGTCTTAGAGGCATTTTGGGTTGCTACCTACTGGGACCCAGCTCCTTCCACACTGGGCTCACCCTGTCTTGGGAGAGGGTAGGGGAGTCCTAGTCCTGATTGTCACGAAGTCCTCTACTCCCCCACCCCAACAAGGGGTGGGGACTTGCCCTGCC
CCTCCAGGGTCCAGGGAGCCACCCTCTGTTGGCATTGCCTTTGATCCTTGCCATGGTTCTGGCCCCATCCTCCCATTGGGATTGGGTCCTCAGCAAGTAGTGCCAGTTTTCCTGACTGCCACACCTCAGGCTGGCCCCTGTGCACACAGCTTGAGTGATGGCCAAGAATAAGTCCTCCTGAAGGGAGTCCAAGCCCAGGGTTCTGGGCTGGGGGAACCTGGGGACAGGGACAATGGAGGAGCCAATCTTAAACCCTTGGCAATGGGAGATGGAGGGAAAATGAGGTCCGTCCTTGCTTTGACTCTCGTTGGGCTCGTACTGTGGTCTTCTCATGGTCCCCAGAGTCTGCCCTATCTGTATGTCTCTCCTGGTTGTCTGTTTCTCACTTGCTCTTTGTCCCCTGGCACTAAAGATACTGGCCTGGGCCAAGCCCCACCCAGATCTGGATGGACCTTGGGTGGAGGAGCTAGCTGTGACCTCTGCTCTTGGGCAGAACTGGGCTGTCTGGGTCCACACAGCGGGCTGGTCGCTGAGCCCTGGGCCTGCCCTGGGTGAGCAGGGCACTGAGGGCTGAGAAGGGGCAGGGGAAGGGGCACCAGGTCTTCAGCAAACACATGGCAAGAACAGGCCAGGGGGCGGGATGTGAATCTTTTGGTCTCTTGGAGATCCTCCTGCACCTTCTACCACTCTAAGCCTCTAGACCCAATCTCTACCCAACTGTGGCTGGCAAGGGGGAGGGCAGCGGAAGAGAGCCGGGCTCCTCTGACAAAGCCCTAATTTTCTGGAACCCAGATGCTCCTCACTCTTGTTCTCATCTTCTTGCTTCCCCCCAACCTCCTGACCACTCCTCAAAGTGTAGGTGATCCACCACTGTCACCAGGGTCAGGGGAAGTCCTCTGGACAGAGAGTATGGGAGTCCTGGGTTCTGGCCCTGGCTCTGCTACCAACTTCTATGTGACCTTTGTGATTCCTTTGCCTTTCTGGGCCTGTCTCTTGGTCAGTCTAGCGAGAATCAGGTGACTGCTACCGGCTCACATCTCCTGGAGTCCCTGGTCTCTTTCAGAGCTGCTCTGGCACTCCCGGGTGGGAGTGGGGGACTGTCTTGTTCCACACATCCCCAGGAGGCCTGGCTGAACCCCAGACCTGAGTCGAGGGTGGGATAATTGCTCCCTGCGGGGGATGTTTTTCCTAGAGGTGTGGGCTGGTCCCAGGGAACCTGGGACTCTGAGGGCCCCTGGGCAGGAAGGAGGCCAAGGTTTCCTTCTGGCCAGAGTGCTCAGCTCCAGCTCTGGGGCAGTGGGGAAGAGGTTGCTCAACGTTGGGGTGGGGCCCTGGCAGGGAAGATGGCGCCGAACTGGGAGAGGGAGGAAAGAGATCAGCTTGGTGACTCTGGGGCAGGGCAGGAGGGGGAGCCCCTTACTGTGTGTCCTCTCCCTAGGAGGATGAAGAAGCCCCCAACTCAAAGGAGGGTGGCGTCAGAAAGTCCCAGGGAAGAGCCCTAGGATAGGATGAGGTCCCGCAGCAGCAGATTTGTCCCGCAGTTCTTCATCCCTCACTCTTCCAAAGACTCTCATCTGAATTCCGTTTTCTTTAAACCTCCCCTGAGTTCTCCATCTGACTGCCTCAGTTTCCCTGAATCTCCAGCCAACCCTTTGGTTCTTTCCAAGCGTTTCCCTCGTATCCTCCTGACCACAGCAGCTGGTGGCATAGTGTGCGTATCTGTGGGCAGGAGTTAGTGAAGGCCTCCTTCCCTCCCTCCAAAGCCCCAGGCCCCACGGTCTGCCACCCGCAAAATTCCAACCACGAGGGGGCGCCTTCCTGCCCGCCGCCCCGTAGGGAGACCCGGCCTAGGCCGCTGGAGTTCCGAGTTCCAGGGTCCTTGTGATGGAAGGGCGGGCGCGGCCCCCACACCTGGTCTTCCAGCCCTATCCAAGGAGGACTGCCAGACAGTCCCGCTCTGAGGTGCAGGAGGCCGGGCCGCCTCGGCTACCCTGAATCCACCCGAAGCTAGAGGGCCCGAGCCCGGGGGGCGGTCGGGTGCTCACCTCGAGAGCTTGCCCAGCGTCTTGCTGAGCTCAGCGTTGTGCAGGTGCGGGTACTGGTCCGCGAGCTTCCTGCGCGCTGCCTGAGCCCACACCATGAAGGCGTTCATGGGCCGCTTGACGTGCGGCTTGCTTTTGCTGGCGCCGTTGACGCGCACGGGCATGGGCACCAGCGTCCAGTCGTAGCCGCTGAGCACCTGGCTGACGGCCTCGCGGATGCACACGGGGAACTTGTCATCGTCCGCCTCGCCGTCCTGCTGCTCCTTCTTGACCTTGCCCAGCTCGCCTGGCCCCGGGCTGGCTCGCAGGCCCGATCCGCCGCCGCCGCCGTCGGGCCCTAGCGAGGGCGCGCTCCCCGGGGACAGGCAGCGGGGCTCCTCCGAGCCCACGGGGCTCAGCTCCACCTCCGATAGGTCCTGCTCCTCCGCCATGTCGCCCCCGGCCGCCGCCGCCGCCGCCTCGGCCGCCTCCCCCGGGCCAGCCGCCGGGGTCCTCGCAAAGAGTCCAACGCCCACCTGGATGGAAGGAGGGCGCGATGGAGCGGCCGCGCGCGCAGCCCCGAGGGCGGCCCGAGACAGGACGTGGGCACAGCCCCGAGGTGGCGGCCCTTCCTGCTCCAGCTAAACCCATCTGGCCCCTGGGGCCCACGCACATGCCAGACTCTAGGTGGGTGCGTCCCGCCTCTGTGTCTTCCCACCACCTGGTCCCAACCGTCTCTTGGTGTGGGTGGCTTTTTTTTTAGCCTCCTTTTTTGGGTGGAGGTTTGTTGATGATAAGGAAGAAAAAAACGGAGCCTTTATTTTGCTCTAATCCCGGCCCCTGGAATTTCCCACCTTTTCTCTCACCTTTCCTTCTTCCCTCAGCCTGCCCCAACGGGGTTTAGAGGAGAGCCAGGTGGGGGGCAAGGGCGGGGTGTCGCCTCTCTCCACCTCACAGCAGGGTCCCAGGCCTGGGCGGGCCAGGGAGGAGCAGGCTGCGCACTCACCTCCTCGGACCTCTCCTCCAGTCTGGGGCTCGTCCTTAGGAAGTGGAAAACCGTGTCCCAAGGTGTGCGGTCCAGCTCGGGGCTGGGAGGTGACGCTGGTGGGCTGGGAGGGAGGGGCGGGGGGCCCTGAGCCTCAGGCCACGGCCTCGTTAGGACGGAGCCTGAATCCTTACCACCAACCACCCTGGCCGGACAGCCCGAGACTGACTGAGCGACTGAGCCTGAGCCGCTGCGGAGGGCTGGGGAAGGAAGGAGGGGGAGAGGGGGGAGGGGAGAGGAGGGAGGGAAGGGCAGAAGGTGGAGCCTCCAGGCTTTCCTTCATCCCCAACACTCAGGGCTCCTCCACCCGGAGCCCAGGCCCCCCCACCCAGCTCCCTGCCCTACTGCCCAGGCCCATCTTGCTGAGGCTTATCTTGGGCTTAGTCTGGGAGGTGGAGGGGAGGTTAGGCCGAGGAAGGAAGAGATGTAGGCTGGAGGGTCAGAACCTGTTGGATGGAAGAAAATTGGGCCCAACCAGGACTCCTAACGTCTGCCTCAGGTGGCAGGATGGGCACTTGGCAGGGGACTAGGGAGAGACGTGAAGGCGGTGAGGGTCCTGGGGGCCCGTGAGGGTGGCTGGCCCTAGCTGCTTCGTCTGCGAAATCCTGTTGAGTGCCTAGTGTGTGCCAGGCACTGATGCCCAGCTCCTCACCCTGCCTCCTACCTTTTCCCAGGCAGCCCTTTCTGCCCCATCCTGCACAGTAAGAGAGACTTCTCAGGGATCCCTCTGAGAAGTGCAGAGCCCCAGCTTGACCCCTGGTCCCTTCTCTGCAGACACCCAGCACACGCGCGTTCTGGTCTGGTTCAAGGTGGAAACACAAGACTAAAGCTGCCAGGAGGCCAAGGTGGGACAGGTTGGGGGCCCTCTCTCAGTAGGTCTTAGAGGCATTTTGGGTTGCTACCTACTGGGACCCAGCTCCTTCCACACTGGGCTCACCCTGTCTTGGGAGAGGGTAGGGGAGTCCTAGTCCTGATTGTCACGAAGTCCTCTACTCCCCCACCCCAACAAGGGGTGGGGACTTGCCCTGCC
Task1_train_28788
The gene POLR2F, SOX10 (RNA polymerase II, I and III subunit F| SRY-box transcription factor 10), on Chromosome 22, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Waardenburg syndrome type 2E, without neurologic involvement
CCCTCTGTTGGCATTGCCTTTGATCCTTGCCATGGTTCTGGCCCCATCCTCCCATTGGGATTGGGTCCTCAGCAAGTAGTGCCAGTTTTCCTGACTGCCACACCTCAGGCTGGCCCCTGTGCACACAGCTTGAGTGATGGCCAAGAATAAGTCCTCCTGAAGGGAGTCCAAGCCCAGGGTTCTGGGCTGGGGGAACCTGGGGACAGGGACAATGGAGGAGCCAATCTTAAACCCTTGGCAATGGGAGATGGAGGGAAAATGAGGTCCGTCCTTGCTTTGACTCTCGTTGGGCTCGTACTGTGGTCTTCTCATGGTCCCCAGAGTCTGCCCTATCTGTATGTCTCTCCTGGTTGTCTGTTTCTCACTTGCTCTTTGTCCCCTGGCACTAAAGATACTGGCCTGGGCCAAGCCCCACCCAGATCTGGATGGACCTTGGGTGGAGGAGCTAGCTGTGACCTCTGCTCTTGGGCAGAACTGGGCTGTCTGGGTCCACACAGCGGGCTGGTCGCTGAGCCCTGGGCCTGCCCTGGGTGAGCAGGGCACTGAGGGCTGAGAAGGGGCAGGGGAAGGGGCACCAGGTCTTCAGCAAACACATGGCAAGAACAGGCCAGGGGGCGGGATGTGAATCTTTTGGTCTCTTGGAGATCCTCCTGCACCTTCTACCACTCTAAGCCTCTAGACCCAATCTCTACCCAACTGTGGCTGGCAAGGGGGAGGGCAGCGGAAGAGAGCCGGGCTCCTCTGACAAAGCCCTAATTTTCTGGAACCCAGATGCTCCTCACTCTTGTTCTCATCTTCTTGCTTCCCCCCAACCTCCTGACCACTCCTCAAAGTGTAGGTGATCCACCACTGTCACCAGGGTCAGGGGAAGTCCTCTGGACAGAGAGTATGGGAGTCCTGGGTTCTGGCCCTGGCTCTGCTACCAACTTCTATGTGACCTTTGTGATTCCTTTGCCTTTCTGGGCCTGTCTCTTGGTCAGTCTAGCGAGAATCAGGTGACTGCTACCGGCTCACATCTCCTGGAGTCCCTGGTCTCTTTCAGAGCTGCTCTGGCACTCCCGGGTGGGAGTGGGGGACTGTCTTGTTCCACACATCCCCAGGAGGCCTGGCTGAACCCCAGACCTGAGTCGAGGGTGGGATAATTGCTCCCTGCGGGGGATGTTTTTCCTAGAGGTGTGGGCTGGTCCCAGGGAACCTGGGACTCTGAGGGCCCCTGGGCAGGAAGGAGGCCAAGGTTTCCTTCTGGCCAGAGTGCTCAGCTCCAGCTCTGGGGCAGTGGGGAAGAGGTTGCTCAACGTTGGGGTGGGGCCCTGGCAGGGAAGATGGCGCCGAACTGGGAGAGGGAGGAAAGAGATCAGCTTGGTGACTCTGGGGCAGGGCAGGAGGGGGAGCCCCTTACTGTGTGTCCTCTCCCTAGGAGGATGAAGAAGCCCCCAACTCAAAGGAGGGTGGCGTCAGAAAGTCCCAGGGAAGAGCCCTAGGATAGGATGAGGTCCCGCAGCAGCAGATTTGTCCCGCAGTTCTTCATCCCTCACTCTTCCAAAGACTCTCATCTGAATTCCGTTTTCTTTAAACCTCCCCTGAGTTCTCCATCTGACTGCCTCAGTTTCCCTGAATCTCCAGCCAACCCTTTGGTTCTTTCCAAGCGTTTCCCTCGTATCCTCCTGACCACAGCAGCTGGTGGCATAGTGTGCGTATCTGTGGGCAGGAGTTAGTGAAGGCCTCCTTCCCTCCCTCCAAAGCCCCAGGCCCCACGGTCTGCCACCCGCAAAATTCCAACCACGAGGGGGCGCCTTCCTGCCCGCCGCCCCGTAGGGAGACCCGGCCTAGGCCGCTGGAGTTCCGAGTTCCAGGGTCCTTGTGATGGAAGGGCGGGCGCGGCCCCCACACCTGGTCTTCCAGCCCTATCCAAGGAGGACTGCCAGACAGTCCCGCTCTGAGGTGCAGGAGGCCGGGCCGCCTCGGCTACCCTGAATCCACCCGAAGCTAGAGGGCCCGAGCCCGGGGGGCGGTCGGGTGCTCACCTCCAGAGCTTGCCCAGCGTCTTGCTGAGCTCAGCGTTGTGCAGGTGCGGGTACTGGTCCGCGAGCTTCCTGCGCGCTGCCTGAGCCCACACCATGAAGGCGTTCATGGGCCGCTTGACGTGCGGCTTGCTTTTGCTGGCGCCGTTGACGCGCACGGGCATGGGCACCAGCGTCCAGTCGTAGCCGCTGAGCACCTGGCTGACGGCCTCGCGGATGCACACGGGGAACTTGTCATCGTCCGCCTCGCCGTCCTGCTGCTCCTTCTTGACCTTGCCCAGCTCGCCTGGCCCCGGGCTGGCTCGCAGGCCCGATCCGCCGCCGCCGCCGTCGGGCCCTAGCGAGGGCGCGCTCCCCGGGGACAGGCAGCGGGGCTCCTCCGAGCCCACGGGGCTCAGCTCCACCTCCGATAGGTCCTGCTCCTCCGCCATGTCGCCCCCGGCCGCCGCCGCCGCCGCCTCGGCCGCCTCCCCCGGGCCAGCCGCCGGGGTCCTCGCAAAGAGTCCAACGCCCACCTGGATGGAAGGAGGGCGCGATGGAGCGGCCGCGCGCGCAGCCCCGAGGGCGGCCCGAGACAGGACGTGGGCACAGCCCCGAGGTGGCGGCCCTTCCTGCTCCAGCTAAACCCATCTGGCCCCTGGGGCCCACGCACATGCCAGACTCTAGGTGGGTGCGTCCCGCCTCTGTGTCTTCCCACCACCTGGTCCCAACCGTCTCTTGGTGTGGGTGGCTTTTTTTTTAGCCTCCTTTTTTGGGTGGAGGTTTGTTGATGATAAGGAAGAAAAAAACGGAGCCTTTATTTTGCTCTAATCCCGGCCCCTGGAATTTCCCACCTTTTCTCTCACCTTTCCTTCTTCCCTCAGCCTGCCCCAACGGGGTTTAGAGGAGAGCCAGGTGGGGGGCAAGGGCGGGGTGTCGCCTCTCTCCACCTCACAGCAGGGTCCCAGGCCTGGGCGGGCCAGGGAGGAGCAGGCTGCGCACTCACCTCCTCGGACCTCTCCTCCAGTCTGGGGCTCGTCCTTAGGAAGTGGAAAACCGTGTCCCAAGGTGTGCGGTCCAGCTCGGGGCTGGGAGGTGACGCTGGTGGGCTGGGAGGGAGGGGCGGGGGGCCCTGAGCCTCAGGCCACGGCCTCGTTAGGACGGAGCCTGAATCCTTACCACCAACCACCCTGGCCGGACAGCCCGAGACTGACTGAGCGACTGAGCCTGAGCCGCTGCGGAGGGCTGGGGAAGGAAGGAGGGGGAGAGGGGGGAGGGGAGAGGAGGGAGGGAAGGGCAGAAGGTGGAGCCTCCAGGCTTTCCTTCATCCCCAACACTCAGGGCTCCTCCACCCGGAGCCCAGGCCCCCCCACCCAGCTCCCTGCCCTACTGCCCAGGCCCATCTTGCTGAGGCTTATCTTGGGCTTAGTCTGGGAGGTGGAGGGGAGGTTAGGCCGAGGAAGGAAGAGATGTAGGCTGGAGGGTCAGAACCTGTTGGATGGAAGAAAATTGGGCCCAACCAGGACTCCTAACGTCTGCCTCAGGTGGCAGGATGGGCACTTGGCAGGGGACTAGGGAGAGACGTGAAGGCGGTGAGGGTCCTGGGGGCCCGTGAGGGTGGCTGGCCCTAGCTGCTTCGTCTGCGAAATCCTGTTGAGTGCCTAGTGTGTGCCAGGCACTGATGCCCAGCTCCTCACCCTGCCTCCTACCTTTTCCCAGGCAGCCCTTTCTGCCCCATCCTGCACAGTAAGAGAGACTTCTCAGGGATCCCTCTGAGAAGTGCAGAGCCCCAGCTTGACCCCTGGTCCCTTCTCTGCAGACACCCAGCACACGCGCGTTCTGGTCTGGTTCAAGGTGGAAACACAAGACTAAAGCTGCCAGGAGGCCAAGGTGGGACAGGTTGGGGGCCCTCTCTCAGTAGGTCTTAGAGGCATTTTGGGTTGCTACCTACTGGGACCCAGCTCCTTCCACACTGGGCTCACCCTGTCTTGGGAGAGGGTAGGGGAGTCCTAGTCCTGATTGTCACGAAGTCCTCTACTCCCCCACCCCAACAAGGGGTGGGGACTTGCCCTGCCTCTTCCCTCCTCTGCCCACCT
CCCTCTGTTGGCATTGCCTTTGATCCTTGCCATGGTTCTGGCCCCATCCTCCCATTGGGATTGGGTCCTCAGCAAGTAGTGCCAGTTTTCCTGACTGCCACACCTCAGGCTGGCCCCTGTGCACACAGCTTGAGTGATGGCCAAGAATAAGTCCTCCTGAAGGGAGTCCAAGCCCAGGGTTCTGGGCTGGGGGAACCTGGGGACAGGGACAATGGAGGAGCCAATCTTAAACCCTTGGCAATGGGAGATGGAGGGAAAATGAGGTCCGTCCTTGCTTTGACTCTCGTTGGGCTCGTACTGTGGTCTTCTCATGGTCCCCAGAGTCTGCCCTATCTGTATGTCTCTCCTGGTTGTCTGTTTCTCACTTGCTCTTTGTCCCCTGGCACTAAAGATACTGGCCTGGGCCAAGCCCCACCCAGATCTGGATGGACCTTGGGTGGAGGAGCTAGCTGTGACCTCTGCTCTTGGGCAGAACTGGGCTGTCTGGGTCCACACAGCGGGCTGGTCGCTGAGCCCTGGGCCTGCCCTGGGTGAGCAGGGCACTGAGGGCTGAGAAGGGGCAGGGGAAGGGGCACCAGGTCTTCAGCAAACACATGGCAAGAACAGGCCAGGGGGCGGGATGTGAATCTTTTGGTCTCTTGGAGATCCTCCTGCACCTTCTACCACTCTAAGCCTCTAGACCCAATCTCTACCCAACTGTGGCTGGCAAGGGGGAGGGCAGCGGAAGAGAGCCGGGCTCCTCTGACAAAGCCCTAATTTTCTGGAACCCAGATGCTCCTCACTCTTGTTCTCATCTTCTTGCTTCCCCCCAACCTCCTGACCACTCCTCAAAGTGTAGGTGATCCACCACTGTCACCAGGGTCAGGGGAAGTCCTCTGGACAGAGAGTATGGGAGTCCTGGGTTCTGGCCCTGGCTCTGCTACCAACTTCTATGTGACCTTTGTGATTCCTTTGCCTTTCTGGGCCTGTCTCTTGGTCAGTCTAGCGAGAATCAGGTGACTGCTACCGGCTCACATCTCCTGGAGTCCCTGGTCTCTTTCAGAGCTGCTCTGGCACTCCCGGGTGGGAGTGGGGGACTGTCTTGTTCCACACATCCCCAGGAGGCCTGGCTGAACCCCAGACCTGAGTCGAGGGTGGGATAATTGCTCCCTGCGGGGGATGTTTTTCCTAGAGGTGTGGGCTGGTCCCAGGGAACCTGGGACTCTGAGGGCCCCTGGGCAGGAAGGAGGCCAAGGTTTCCTTCTGGCCAGAGTGCTCAGCTCCAGCTCTGGGGCAGTGGGGAAGAGGTTGCTCAACGTTGGGGTGGGGCCCTGGCAGGGAAGATGGCGCCGAACTGGGAGAGGGAGGAAAGAGATCAGCTTGGTGACTCTGGGGCAGGGCAGGAGGGGGAGCCCCTTACTGTGTGTCCTCTCCCTAGGAGGATGAAGAAGCCCCCAACTCAAAGGAGGGTGGCGTCAGAAAGTCCCAGGGAAGAGCCCTAGGATAGGATGAGGTCCCGCAGCAGCAGATTTGTCCCGCAGTTCTTCATCCCTCACTCTTCCAAAGACTCTCATCTGAATTCCGTTTTCTTTAAACCTCCCCTGAGTTCTCCATCTGACTGCCTCAGTTTCCCTGAATCTCCAGCCAACCCTTTGGTTCTTTCCAAGCGTTTCCCTCGTATCCTCCTGACCACAGCAGCTGGTGGCATAGTGTGCGTATCTGTGGGCAGGAGTTAGTGAAGGCCTCCTTCCCTCCCTCCAAAGCCCCAGGCCCCACGGTCTGCCACCCGCAAAATTCCAACCACGAGGGGGCGCCTTCCTGCCCGCCGCCCCGTAGGGAGACCCGGCCTAGGCCGCTGGAGTTCCGAGTTCCAGGGTCCTTGTGATGGAAGGGCGGGCGCGGCCCCCACACCTGGTCTTCCAGCCCTATCCAAGGAGGACTGCCAGACAGTCCCGCTCTGAGGTGCAGGAGGCCGGGCCGCCTCGGCTACCCTGAATCCACCCGAAGCTAGAGGGCCCGAGCCCGGGGGGCGGTCGGGTGCTCACCTCCAGAGCTTGCCCAGCGTCTTGGTGAGCTCAGCGTTGTGCAGGTGCGGGTACTGGTCCGCGAGCTTCCTGCGCGCTGCCTGAGCCCACACCATGAAGGCGTTCATGGGCCGCTTGACGTGCGGCTTGCTTTTGCTGGCGCCGTTGACGCGCACGGGCATGGGCACCAGCGTCCAGTCGTAGCCGCTGAGCACCTGGCTGACGGCCTCGCGGATGCACACGGGGAACTTGTCATCGTCCGCCTCGCCGTCCTGCTGCTCCTTCTTGACCTTGCCCAGCTCGCCTGGCCCCGGGCTGGCTCGCAGGCCCGATCCGCCGCCGCCGCCGTCGGGCCCTAGCGAGGGCGCGCTCCCCGGGGACAGGCAGCGGGGCTCCTCCGAGCCCACGGGGCTCAGCTCCACCTCCGATAGGTCCTGCTCCTCCGCCATGTCGCCCCCGGCCGCCGCCGCCGCCGCCTCGGCCGCCTCCCCCGGGCCAGCCGCCGGGGTCCTCGCAAAGAGTCCAACGCCCACCTGGATGGAAGGAGGGCGCGATGGAGCGGCCGCGCGCGCAGCCCCGAGGGCGGCCCGAGACAGGACGTGGGCACAGCCCCGAGGTGGCGGCCCTTCCTGCTCCAGCTAAACCCATCTGGCCCCTGGGGCCCACGCACATGCCAGACTCTAGGTGGGTGCGTCCCGCCTCTGTGTCTTCCCACCACCTGGTCCCAACCGTCTCTTGGTGTGGGTGGCTTTTTTTTTAGCCTCCTTTTTTGGGTGGAGGTTTGTTGATGATAAGGAAGAAAAAAACGGAGCCTTTATTTTGCTCTAATCCCGGCCCCTGGAATTTCCCACCTTTTCTCTCACCTTTCCTTCTTCCCTCAGCCTGCCCCAACGGGGTTTAGAGGAGAGCCAGGTGGGGGGCAAGGGCGGGGTGTCGCCTCTCTCCACCTCACAGCAGGGTCCCAGGCCTGGGCGGGCCAGGGAGGAGCAGGCTGCGCACTCACCTCCTCGGACCTCTCCTCCAGTCTGGGGCTCGTCCTTAGGAAGTGGAAAACCGTGTCCCAAGGTGTGCGGTCCAGCTCGGGGCTGGGAGGTGACGCTGGTGGGCTGGGAGGGAGGGGCGGGGGGCCCTGAGCCTCAGGCCACGGCCTCGTTAGGACGGAGCCTGAATCCTTACCACCAACCACCCTGGCCGGACAGCCCGAGACTGACTGAGCGACTGAGCCTGAGCCGCTGCGGAGGGCTGGGGAAGGAAGGAGGGGGAGAGGGGGGAGGGGAGAGGAGGGAGGGAAGGGCAGAAGGTGGAGCCTCCAGGCTTTCCTTCATCCCCAACACTCAGGGCTCCTCCACCCGGAGCCCAGGCCCCCCCACCCAGCTCCCTGCCCTACTGCCCAGGCCCATCTTGCTGAGGCTTATCTTGGGCTTAGTCTGGGAGGTGGAGGGGAGGTTAGGCCGAGGAAGGAAGAGATGTAGGCTGGAGGGTCAGAACCTGTTGGATGGAAGAAAATTGGGCCCAACCAGGACTCCTAACGTCTGCCTCAGGTGGCAGGATGGGCACTTGGCAGGGGACTAGGGAGAGACGTGAAGGCGGTGAGGGTCCTGGGGGCCCGTGAGGGTGGCTGGCCCTAGCTGCTTCGTCTGCGAAATCCTGTTGAGTGCCTAGTGTGTGCCAGGCACTGATGCCCAGCTCCTCACCCTGCCTCCTACCTTTTCCCAGGCAGCCCTTTCTGCCCCATCCTGCACAGTAAGAGAGACTTCTCAGGGATCCCTCTGAGAAGTGCAGAGCCCCAGCTTGACCCCTGGTCCCTTCTCTGCAGACACCCAGCACACGCGCGTTCTGGTCTGGTTCAAGGTGGAAACACAAGACTAAAGCTGCCAGGAGGCCAAGGTGGGACAGGTTGGGGGCCCTCTCTCAGTAGGTCTTAGAGGCATTTTGGGTTGCTACCTACTGGGACCCAGCTCCTTCCACACTGGGCTCACCCTGTCTTGGGAGAGGGTAGGGGAGTCCTAGTCCTGATTGTCACGAAGTCCTCTACTCCCCCACCCCAACAAGGGGTGGGGACTTGCCCTGCCTCTTCCCTCCTCTGCCCACCT
Task1_train_28789
A mutation found in POLR2F, SOX10 (RNA polymerase II, I and III subunit F| SRY-box transcription factor 10) on Chromosome 22 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; PCWH syndrome
GGCATTGCCTTTGATCCTTGCCATGGTTCTGGCCCCATCCTCCCATTGGGATTGGGTCCTCAGCAAGTAGTGCCAGTTTTCCTGACTGCCACACCTCAGGCTGGCCCCTGTGCACACAGCTTGAGTGATGGCCAAGAATAAGTCCTCCTGAAGGGAGTCCAAGCCCAGGGTTCTGGGCTGGGGGAACCTGGGGACAGGGACAATGGAGGAGCCAATCTTAAACCCTTGGCAATGGGAGATGGAGGGAAAATGAGGTCCGTCCTTGCTTTGACTCTCGTTGGGCTCGTACTGTGGTCTTCTCATGGTCCCCAGAGTCTGCCCTATCTGTATGTCTCTCCTGGTTGTCTGTTTCTCACTTGCTCTTTGTCCCCTGGCACTAAAGATACTGGCCTGGGCCAAGCCCCACCCAGATCTGGATGGACCTTGGGTGGAGGAGCTAGCTGTGACCTCTGCTCTTGGGCAGAACTGGGCTGTCTGGGTCCACACAGCGGGCTGGTCGCTGAGCCCTGGGCCTGCCCTGGGTGAGCAGGGCACTGAGGGCTGAGAAGGGGCAGGGGAAGGGGCACCAGGTCTTCAGCAAACACATGGCAAGAACAGGCCAGGGGGCGGGATGTGAATCTTTTGGTCTCTTGGAGATCCTCCTGCACCTTCTACCACTCTAAGCCTCTAGACCCAATCTCTACCCAACTGTGGCTGGCAAGGGGGAGGGCAGCGGAAGAGAGCCGGGCTCCTCTGACAAAGCCCTAATTTTCTGGAACCCAGATGCTCCTCACTCTTGTTCTCATCTTCTTGCTTCCCCCCAACCTCCTGACCACTCCTCAAAGTGTAGGTGATCCACCACTGTCACCAGGGTCAGGGGAAGTCCTCTGGACAGAGAGTATGGGAGTCCTGGGTTCTGGCCCTGGCTCTGCTACCAACTTCTATGTGACCTTTGTGATTCCTTTGCCTTTCTGGGCCTGTCTCTTGGTCAGTCTAGCGAGAATCAGGTGACTGCTACCGGCTCACATCTCCTGGAGTCCCTGGTCTCTTTCAGAGCTGCTCTGGCACTCCCGGGTGGGAGTGGGGGACTGTCTTGTTCCACACATCCCCAGGAGGCCTGGCTGAACCCCAGACCTGAGTCGAGGGTGGGATAATTGCTCCCTGCGGGGGATGTTTTTCCTAGAGGTGTGGGCTGGTCCCAGGGAACCTGGGACTCTGAGGGCCCCTGGGCAGGAAGGAGGCCAAGGTTTCCTTCTGGCCAGAGTGCTCAGCTCCAGCTCTGGGGCAGTGGGGAAGAGGTTGCTCAACGTTGGGGTGGGGCCCTGGCAGGGAAGATGGCGCCGAACTGGGAGAGGGAGGAAAGAGATCAGCTTGGTGACTCTGGGGCAGGGCAGGAGGGGGAGCCCCTTACTGTGTGTCCTCTCCCTAGGAGGATGAAGAAGCCCCCAACTCAAAGGAGGGTGGCGTCAGAAAGTCCCAGGGAAGAGCCCTAGGATAGGATGAGGTCCCGCAGCAGCAGATTTGTCCCGCAGTTCTTCATCCCTCACTCTTCCAAAGACTCTCATCTGAATTCCGTTTTCTTTAAACCTCCCCTGAGTTCTCCATCTGACTGCCTCAGTTTCCCTGAATCTCCAGCCAACCCTTTGGTTCTTTCCAAGCGTTTCCCTCGTATCCTCCTGACCACAGCAGCTGGTGGCATAGTGTGCGTATCTGTGGGCAGGAGTTAGTGAAGGCCTCCTTCCCTCCCTCCAAAGCCCCAGGCCCCACGGTCTGCCACCCGCAAAATTCCAACCACGAGGGGGCGCCTTCCTGCCCGCCGCCCCGTAGGGAGACCCGGCCTAGGCCGCTGGAGTTCCGAGTTCCAGGGTCCTTGTGATGGAAGGGCGGGCGCGGCCCCCACACCTGGTCTTCCAGCCCTATCCAAGGAGGACTGCCAGACAGTCCCGCTCTGAGGTGCAGGAGGCCGGGCCGCCTCGGCTACCCTGAATCCACCCGAAGCTAGAGGGCCCGAGCCCGGGGGGCGGTCGGGTGCTCACCTCCAGAGCTTGCCCAGCGTCTTGCTGAGCTCAGCGTTGTGCAGGTGCGGGTACTGGTCCGCGAGCTTCCTGCGCGCTGCCTGAGCCCACACCATGAAGGCGTTCATGGGCCGCTTGACGTGCGGCTTGCTTTTGCTGGCGCCGTTGACGCGCACGGGCATGGGCACCAGCGTCCAGTCGTAGCCGCTGAGCACCTGGCTGACGGCCTCGCGGATGCACACGGGGAACTTGTCATCGTCCGCCTCGCCGTCCTGCTGCTCCTTCTTGACCTTGCCCAGCTCGCCTGGCCCCGGGCTGGCTCGCAGGCCCGATCCGCCGCCGCCGCCGTCGGGCCCTAGCGAGGGCGCGCTCCCCGGGGACAGGCAGCGGGGCTCCTCCGAGCCCACGGGGCTCAGCTCCACCTCCGATAGGTCCTGCTCCTCCGCCATGTCGCCCCCGGCCGCCGCCGCCGCCGCCTCGGCCGCCTCCCCCGGGCCAGCCGCCGGGGTCCTCGCAAAGAGTCCAACGCCCACCTGGATGGAAGGAGGGCGCGATGGAGCGGCCGCGCGCGCAGCCCCGAGGGCGGCCCGAGACAGGACGTGGGCACAGCCCCGAGGTGGCGGCCCTTCCTGCTCCAGCTAAACCCATCTGGCCCCTGGGGCCCACGCACATGCCAGACTCTAGGTGGGTGCGTCCCGCCTCTGTGTCTTCCCACCACCTGGTCCCAACCGTCTCTTGGTGTGGGTGGCTTTTTTTTTAGCCTCCTTTTTTGGGTGGAGGTTTGTTGATGATAAGGAAGAAAAAAACGGAGCCTTTATTTTGCTCTAATCCCGGCCCCTGGAATTTCCCACCTTTTCTCTCACCTTTCCTTCTTCCCTCAGCCTGCCCCAACGGGGTTTAGAGGAGAGCCAGGTGGGGGGCAAGGGCGGGGTGTCGCCTCTCTCCACCTCACAGCAGGGTCCCAGGCCTGGGCGGGCCAGGGAGGAGCAGGCTGCGCACTCACCTCCTCGGACCTCTCCTCCAGTCTGGGGCTCGTCCTTAGGAAGTGGAAAACCGTGTCCCAAGGTGTGCGGTCCAGCTCGGGGCTGGGAGGTGACGCTGGTGGGCTGGGAGGGAGGGGCGGGGGGCCCTGAGCCTCAGGCCACGGCCTCGTTAGGACGGAGCCTGAATCCTTACCACCAACCACCCTGGCCGGACAGCCCGAGACTGACTGAGCGACTGAGCCTGAGCCGCTGCGGAGGGCTGGGGAAGGAAGGAGGGGGAGAGGGGGGAGGGGAGAGGAGGGAGGGAAGGGCAGAAGGTGGAGCCTCCAGGCTTTCCTTCATCCCCAACACTCAGGGCTCCTCCACCCGGAGCCCAGGCCCCCCCACCCAGCTCCCTGCCCTACTGCCCAGGCCCATCTTGCTGAGGCTTATCTTGGGCTTAGTCTGGGAGGTGGAGGGGAGGTTAGGCCGAGGAAGGAAGAGATGTAGGCTGGAGGGTCAGAACCTGTTGGATGGAAGAAAATTGGGCCCAACCAGGACTCCTAACGTCTGCCTCAGGTGGCAGGATGGGCACTTGGCAGGGGACTAGGGAGAGACGTGAAGGCGGTGAGGGTCCTGGGGGCCCGTGAGGGTGGCTGGCCCTAGCTGCTTCGTCTGCGAAATCCTGTTGAGTGCCTAGTGTGTGCCAGGCACTGATGCCCAGCTCCTCACCCTGCCTCCTACCTTTTCCCAGGCAGCCCTTTCTGCCCCATCCTGCACAGTAAGAGAGACTTCTCAGGGATCCCTCTGAGAAGTGCAGAGCCCCAGCTTGACCCCTGGTCCCTTCTCTGCAGACACCCAGCACACGCGCGTTCTGGTCTGGTTCAAGGTGGAAACACAAGACTAAAGCTGCCAGGAGGCCAAGGTGGGACAGGTTGGGGGCCCTCTCTCAGTAGGTCTTAGAGGCATTTTGGGTTGCTACCTACTGGGACCCAGCTCCTTCCACACTGGGCTCACCCTGTCTTGGGAGAGGGTAGGGGAGTCCTAGTCCTGATTGTCACGAAGTCCTCTACTCCCCCACCCCAACAAGGGGTGGGGACTTGCCCTGCCTCTTCCCTCCTCTGCCCACCTCTCCCTCCC
GGCATTGCCTTTGATCCTTGCCATGGTTCTGGCCCCATCCTCCCATTGGGATTGGGTCCTCAGCAAGTAGTGCCAGTTTTCCTGACTGCCACACCTCAGGCTGGCCCCTGTGCACACAGCTTGAGTGATGGCCAAGAATAAGTCCTCCTGAAGGGAGTCCAAGCCCAGGGTTCTGGGCTGGGGGAACCTGGGGACAGGGACAATGGAGGAGCCAATCTTAAACCCTTGGCAATGGGAGATGGAGGGAAAATGAGGTCCGTCCTTGCTTTGACTCTCGTTGGGCTCGTACTGTGGTCTTCTCATGGTCCCCAGAGTCTGCCCTATCTGTATGTCTCTCCTGGTTGTCTGTTTCTCACTTGCTCTTTGTCCCCTGGCACTAAAGATACTGGCCTGGGCCAAGCCCCACCCAGATCTGGATGGACCTTGGGTGGAGGAGCTAGCTGTGACCTCTGCTCTTGGGCAGAACTGGGCTGTCTGGGTCCACACAGCGGGCTGGTCGCTGAGCCCTGGGCCTGCCCTGGGTGAGCAGGGCACTGAGGGCTGAGAAGGGGCAGGGGAAGGGGCACCAGGTCTTCAGCAAACACATGGCAAGAACAGGCCAGGGGGCGGGATGTGAATCTTTTGGTCTCTTGGAGATCCTCCTGCACCTTCTACCACTCTAAGCCTCTAGACCCAATCTCTACCCAACTGTGGCTGGCAAGGGGGAGGGCAGCGGAAGAGAGCCGGGCTCCTCTGACAAAGCCCTAATTTTCTGGAACCCAGATGCTCCTCACTCTTGTTCTCATCTTCTTGCTTCCCCCCAACCTCCTGACCACTCCTCAAAGTGTAGGTGATCCACCACTGTCACCAGGGTCAGGGGAAGTCCTCTGGACAGAGAGTATGGGAGTCCTGGGTTCTGGCCCTGGCTCTGCTACCAACTTCTATGTGACCTTTGTGATTCCTTTGCCTTTCTGGGCCTGTCTCTTGGTCAGTCTAGCGAGAATCAGGTGACTGCTACCGGCTCACATCTCCTGGAGTCCCTGGTCTCTTTCAGAGCTGCTCTGGCACTCCCGGGTGGGAGTGGGGGACTGTCTTGTTCCACACATCCCCAGGAGGCCTGGCTGAACCCCAGACCTGAGTCGAGGGTGGGATAATTGCTCCCTGCGGGGGATGTTTTTCCTAGAGGTGTGGGCTGGTCCCAGGGAACCTGGGACTCTGAGGGCCCCTGGGCAGGAAGGAGGCCAAGGTTTCCTTCTGGCCAGAGTGCTCAGCTCCAGCTCTGGGGCAGTGGGGAAGAGGTTGCTCAACGTTGGGGTGGGGCCCTGGCAGGGAAGATGGCGCCGAACTGGGAGAGGGAGGAAAGAGATCAGCTTGGTGACTCTGGGGCAGGGCAGGAGGGGGAGCCCCTTACTGTGTGTCCTCTCCCTAGGAGGATGAAGAAGCCCCCAACTCAAAGGAGGGTGGCGTCAGAAAGTCCCAGGGAAGAGCCCTAGGATAGGATGAGGTCCCGCAGCAGCAGATTTGTCCCGCAGTTCTTCATCCCTCACTCTTCCAAAGACTCTCATCTGAATTCCGTTTTCTTTAAACCTCCCCTGAGTTCTCCATCTGACTGCCTCAGTTTCCCTGAATCTCCAGCCAACCCTTTGGTTCTTTCCAAGCGTTTCCCTCGTATCCTCCTGACCACAGCAGCTGGTGGCATAGTGTGCGTATCTGTGGGCAGGAGTTAGTGAAGGCCTCCTTCCCTCCCTCCAAAGCCCCAGGCCCCACGGTCTGCCACCCGCAAAATTCCAACCACGAGGGGGCGCCTTCCTGCCCGCCGCCCCGTAGGGAGACCCGGCCTAGGCCGCTGGAGTTCCGAGTTCCAGGGTCCTTGTGATGGAAGGGCGGGCGCGGCCCCCACACCTGGTCTTCCAGCCCTATCCAAGGAGGACTGCCAGACAGTCCCGCTCTGAGGTGCAGGAGGCCGGGCCGCCTCGGCTACCCTGAATCCACCCGAAGCTAGAGGGCCCGAGCCCGGGGGGCGGTCGGGTGCTCACCTCCAGAGCTTGCCCAGCGTCTTGCTGAGCTCACCGTTGTGCAGGTGCGGGTACTGGTCCGCGAGCTTCCTGCGCGCTGCCTGAGCCCACACCATGAAGGCGTTCATGGGCCGCTTGACGTGCGGCTTGCTTTTGCTGGCGCCGTTGACGCGCACGGGCATGGGCACCAGCGTCCAGTCGTAGCCGCTGAGCACCTGGCTGACGGCCTCGCGGATGCACACGGGGAACTTGTCATCGTCCGCCTCGCCGTCCTGCTGCTCCTTCTTGACCTTGCCCAGCTCGCCTGGCCCCGGGCTGGCTCGCAGGCCCGATCCGCCGCCGCCGCCGTCGGGCCCTAGCGAGGGCGCGCTCCCCGGGGACAGGCAGCGGGGCTCCTCCGAGCCCACGGGGCTCAGCTCCACCTCCGATAGGTCCTGCTCCTCCGCCATGTCGCCCCCGGCCGCCGCCGCCGCCGCCTCGGCCGCCTCCCCCGGGCCAGCCGCCGGGGTCCTCGCAAAGAGTCCAACGCCCACCTGGATGGAAGGAGGGCGCGATGGAGCGGCCGCGCGCGCAGCCCCGAGGGCGGCCCGAGACAGGACGTGGGCACAGCCCCGAGGTGGCGGCCCTTCCTGCTCCAGCTAAACCCATCTGGCCCCTGGGGCCCACGCACATGCCAGACTCTAGGTGGGTGCGTCCCGCCTCTGTGTCTTCCCACCACCTGGTCCCAACCGTCTCTTGGTGTGGGTGGCTTTTTTTTTAGCCTCCTTTTTTGGGTGGAGGTTTGTTGATGATAAGGAAGAAAAAAACGGAGCCTTTATTTTGCTCTAATCCCGGCCCCTGGAATTTCCCACCTTTTCTCTCACCTTTCCTTCTTCCCTCAGCCTGCCCCAACGGGGTTTAGAGGAGAGCCAGGTGGGGGGCAAGGGCGGGGTGTCGCCTCTCTCCACCTCACAGCAGGGTCCCAGGCCTGGGCGGGCCAGGGAGGAGCAGGCTGCGCACTCACCTCCTCGGACCTCTCCTCCAGTCTGGGGCTCGTCCTTAGGAAGTGGAAAACCGTGTCCCAAGGTGTGCGGTCCAGCTCGGGGCTGGGAGGTGACGCTGGTGGGCTGGGAGGGAGGGGCGGGGGGCCCTGAGCCTCAGGCCACGGCCTCGTTAGGACGGAGCCTGAATCCTTACCACCAACCACCCTGGCCGGACAGCCCGAGACTGACTGAGCGACTGAGCCTGAGCCGCTGCGGAGGGCTGGGGAAGGAAGGAGGGGGAGAGGGGGGAGGGGAGAGGAGGGAGGGAAGGGCAGAAGGTGGAGCCTCCAGGCTTTCCTTCATCCCCAACACTCAGGGCTCCTCCACCCGGAGCCCAGGCCCCCCCACCCAGCTCCCTGCCCTACTGCCCAGGCCCATCTTGCTGAGGCTTATCTTGGGCTTAGTCTGGGAGGTGGAGGGGAGGTTAGGCCGAGGAAGGAAGAGATGTAGGCTGGAGGGTCAGAACCTGTTGGATGGAAGAAAATTGGGCCCAACCAGGACTCCTAACGTCTGCCTCAGGTGGCAGGATGGGCACTTGGCAGGGGACTAGGGAGAGACGTGAAGGCGGTGAGGGTCCTGGGGGCCCGTGAGGGTGGCTGGCCCTAGCTGCTTCGTCTGCGAAATCCTGTTGAGTGCCTAGTGTGTGCCAGGCACTGATGCCCAGCTCCTCACCCTGCCTCCTACCTTTTCCCAGGCAGCCCTTTCTGCCCCATCCTGCACAGTAAGAGAGACTTCTCAGGGATCCCTCTGAGAAGTGCAGAGCCCCAGCTTGACCCCTGGTCCCTTCTCTGCAGACACCCAGCACACGCGCGTTCTGGTCTGGTTCAAGGTGGAAACACAAGACTAAAGCTGCCAGGAGGCCAAGGTGGGACAGGTTGGGGGCCCTCTCTCAGTAGGTCTTAGAGGCATTTTGGGTTGCTACCTACTGGGACCCAGCTCCTTCCACACTGGGCTCACCCTGTCTTGGGAGAGGGTAGGGGAGTCCTAGTCCTGATTGTCACGAAGTCCTCTACTCCCCCACCCCAACAAGGGGTGGGGACTTGCCCTGCCTCTTCCCTCCTCTGCCCACCTCTCCCTCCC
Task1_train_28790
This mutation is located in gene POLR2F, SOX10 (RNA polymerase II, I and III subunit F| SRY-box transcription factor 10) on Chromosome 22. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; not provided
TCCCATTGGGATTGGGTCCTCAGCAAGTAGTGCCAGTTTTCCTGACTGCCACACCTCAGGCTGGCCCCTGTGCACACAGCTTGAGTGATGGCCAAGAATAAGTCCTCCTGAAGGGAGTCCAAGCCCAGGGTTCTGGGCTGGGGGAACCTGGGGACAGGGACAATGGAGGAGCCAATCTTAAACCCTTGGCAATGGGAGATGGAGGGAAAATGAGGTCCGTCCTTGCTTTGACTCTCGTTGGGCTCGTACTGTGGTCTTCTCATGGTCCCCAGAGTCTGCCCTATCTGTATGTCTCTCCTGGTTGTCTGTTTCTCACTTGCTCTTTGTCCCCTGGCACTAAAGATACTGGCCTGGGCCAAGCCCCACCCAGATCTGGATGGACCTTGGGTGGAGGAGCTAGCTGTGACCTCTGCTCTTGGGCAGAACTGGGCTGTCTGGGTCCACACAGCGGGCTGGTCGCTGAGCCCTGGGCCTGCCCTGGGTGAGCAGGGCACTGAGGGCTGAGAAGGGGCAGGGGAAGGGGCACCAGGTCTTCAGCAAACACATGGCAAGAACAGGCCAGGGGGCGGGATGTGAATCTTTTGGTCTCTTGGAGATCCTCCTGCACCTTCTACCACTCTAAGCCTCTAGACCCAATCTCTACCCAACTGTGGCTGGCAAGGGGGAGGGCAGCGGAAGAGAGCCGGGCTCCTCTGACAAAGCCCTAATTTTCTGGAACCCAGATGCTCCTCACTCTTGTTCTCATCTTCTTGCTTCCCCCCAACCTCCTGACCACTCCTCAAAGTGTAGGTGATCCACCACTGTCACCAGGGTCAGGGGAAGTCCTCTGGACAGAGAGTATGGGAGTCCTGGGTTCTGGCCCTGGCTCTGCTACCAACTTCTATGTGACCTTTGTGATTCCTTTGCCTTTCTGGGCCTGTCTCTTGGTCAGTCTAGCGAGAATCAGGTGACTGCTACCGGCTCACATCTCCTGGAGTCCCTGGTCTCTTTCAGAGCTGCTCTGGCACTCCCGGGTGGGAGTGGGGGACTGTCTTGTTCCACACATCCCCAGGAGGCCTGGCTGAACCCCAGACCTGAGTCGAGGGTGGGATAATTGCTCCCTGCGGGGGATGTTTTTCCTAGAGGTGTGGGCTGGTCCCAGGGAACCTGGGACTCTGAGGGCCCCTGGGCAGGAAGGAGGCCAAGGTTTCCTTCTGGCCAGAGTGCTCAGCTCCAGCTCTGGGGCAGTGGGGAAGAGGTTGCTCAACGTTGGGGTGGGGCCCTGGCAGGGAAGATGGCGCCGAACTGGGAGAGGGAGGAAAGAGATCAGCTTGGTGACTCTGGGGCAGGGCAGGAGGGGGAGCCCCTTACTGTGTGTCCTCTCCCTAGGAGGATGAAGAAGCCCCCAACTCAAAGGAGGGTGGCGTCAGAAAGTCCCAGGGAAGAGCCCTAGGATAGGATGAGGTCCCGCAGCAGCAGATTTGTCCCGCAGTTCTTCATCCCTCACTCTTCCAAAGACTCTCATCTGAATTCCGTTTTCTTTAAACCTCCCCTGAGTTCTCCATCTGACTGCCTCAGTTTCCCTGAATCTCCAGCCAACCCTTTGGTTCTTTCCAAGCGTTTCCCTCGTATCCTCCTGACCACAGCAGCTGGTGGCATAGTGTGCGTATCTGTGGGCAGGAGTTAGTGAAGGCCTCCTTCCCTCCCTCCAAAGCCCCAGGCCCCACGGTCTGCCACCCGCAAAATTCCAACCACGAGGGGGCGCCTTCCTGCCCGCCGCCCCGTAGGGAGACCCGGCCTAGGCCGCTGGAGTTCCGAGTTCCAGGGTCCTTGTGATGGAAGGGCGGGCGCGGCCCCCACACCTGGTCTTCCAGCCCTATCCAAGGAGGACTGCCAGACAGTCCCGCTCTGAGGTGCAGGAGGCCGGGCCGCCTCGGCTACCCTGAATCCACCCGAAGCTAGAGGGCCCGAGCCCGGGGGGCGGTCGGGTGCTCACCTCCAGAGCTTGCCCAGCGTCTTGCTGAGCTCAGCGTTGTGCAGGTGCGGGTACTGGTCCGCGAGCTTCCTGCGCGCTGCCTGAGCCCACACCATGAAGGCGTTCATGGGCCGCTTGACGTGCGGCTTGCTTTTGCTGGCGCCGTTGACGCGCACGGGCATGGGCACCAGCGTCCAGTCGTAGCCGCTGAGCACCTGGCTGACGGCCTCGCGGATGCACACGGGGAACTTGTCATCGTCCGCCTCGCCGTCCTGCTGCTCCTTCTTGACCTTGCCCAGCTCGCCTGGCCCCGGGCTGGCTCGCAGGCCCGATCCGCCGCCGCCGCCGTCGGGCCCTAGCGAGGGCGCGCTCCCCGGGGACAGGCAGCGGGGCTCCTCCGAGCCCACGGGGCTCAGCTCCACCTCCGATAGGTCCTGCTCCTCCGCCATGTCGCCCCCGGCCGCCGCCGCCGCCGCCTCGGCCGCCTCCCCCGGGCCAGCCGCCGGGGTCCTCGCAAAGAGTCCAACGCCCACCTGGATGGAAGGAGGGCGCGATGGAGCGGCCGCGCGCGCAGCCCCGAGGGCGGCCCGAGACAGGACGTGGGCACAGCCCCGAGGTGGCGGCCCTTCCTGCTCCAGCTAAACCCATCTGGCCCCTGGGGCCCACGCACATGCCAGACTCTAGGTGGGTGCGTCCCGCCTCTGTGTCTTCCCACCACCTGGTCCCAACCGTCTCTTGGTGTGGGTGGCTTTTTTTTTAGCCTCCTTTTTTGGGTGGAGGTTTGTTGATGATAAGGAAGAAAAAAACGGAGCCTTTATTTTGCTCTAATCCCGGCCCCTGGAATTTCCCACCTTTTCTCTCACCTTTCCTTCTTCCCTCAGCCTGCCCCAACGGGGTTTAGAGGAGAGCCAGGTGGGGGGCAAGGGCGGGGTGTCGCCTCTCTCCACCTCACAGCAGGGTCCCAGGCCTGGGCGGGCCAGGGAGGAGCAGGCTGCGCACTCACCTCCTCGGACCTCTCCTCCAGTCTGGGGCTCGTCCTTAGGAAGTGGAAAACCGTGTCCCAAGGTGTGCGGTCCAGCTCGGGGCTGGGAGGTGACGCTGGTGGGCTGGGAGGGAGGGGCGGGGGGCCCTGAGCCTCAGGCCACGGCCTCGTTAGGACGGAGCCTGAATCCTTACCACCAACCACCCTGGCCGGACAGCCCGAGACTGACTGAGCGACTGAGCCTGAGCCGCTGCGGAGGGCTGGGGAAGGAAGGAGGGGGAGAGGGGGGAGGGGAGAGGAGGGAGGGAAGGGCAGAAGGTGGAGCCTCCAGGCTTTCCTTCATCCCCAACACTCAGGGCTCCTCCACCCGGAGCCCAGGCCCCCCCACCCAGCTCCCTGCCCTACTGCCCAGGCCCATCTTGCTGAGGCTTATCTTGGGCTTAGTCTGGGAGGTGGAGGGGAGGTTAGGCCGAGGAAGGAAGAGATGTAGGCTGGAGGGTCAGAACCTGTTGGATGGAAGAAAATTGGGCCCAACCAGGACTCCTAACGTCTGCCTCAGGTGGCAGGATGGGCACTTGGCAGGGGACTAGGGAGAGACGTGAAGGCGGTGAGGGTCCTGGGGGCCCGTGAGGGTGGCTGGCCCTAGCTGCTTCGTCTGCGAAATCCTGTTGAGTGCCTAGTGTGTGCCAGGCACTGATGCCCAGCTCCTCACCCTGCCTCCTACCTTTTCCCAGGCAGCCCTTTCTGCCCCATCCTGCACAGTAAGAGAGACTTCTCAGGGATCCCTCTGAGAAGTGCAGAGCCCCAGCTTGACCCCTGGTCCCTTCTCTGCAGACACCCAGCACACGCGCGTTCTGGTCTGGTTCAAGGTGGAAACACAAGACTAAAGCTGCCAGGAGGCCAAGGTGGGACAGGTTGGGGGCCCTCTCTCAGTAGGTCTTAGAGGCATTTTGGGTTGCTACCTACTGGGACCCAGCTCCTTCCACACTGGGCTCACCCTGTCTTGGGAGAGGGTAGGGGAGTCCTAGTCCTGATTGTCACGAAGTCCTCTACTCCCCCACCCCAACAAGGGGTGGGGACTTGCCCTGCCTCTTCCCTCCTCTGCCCACCTCTCCCTCCCTCCCCTTTTCTTTCCTGCCCATCCTCCGTTGACACCTTTT
TCCCATTGGGATTGGGTCCTCAGCAAGTAGTGCCAGTTTTCCTGACTGCCACACCTCAGGCTGGCCCCTGTGCACACAGCTTGAGTGATGGCCAAGAATAAGTCCTCCTGAAGGGAGTCCAAGCCCAGGGTTCTGGGCTGGGGGAACCTGGGGACAGGGACAATGGAGGAGCCAATCTTAAACCCTTGGCAATGGGAGATGGAGGGAAAATGAGGTCCGTCCTTGCTTTGACTCTCGTTGGGCTCGTACTGTGGTCTTCTCATGGTCCCCAGAGTCTGCCCTATCTGTATGTCTCTCCTGGTTGTCTGTTTCTCACTTGCTCTTTGTCCCCTGGCACTAAAGATACTGGCCTGGGCCAAGCCCCACCCAGATCTGGATGGACCTTGGGTGGAGGAGCTAGCTGTGACCTCTGCTCTTGGGCAGAACTGGGCTGTCTGGGTCCACACAGCGGGCTGGTCGCTGAGCCCTGGGCCTGCCCTGGGTGAGCAGGGCACTGAGGGCTGAGAAGGGGCAGGGGAAGGGGCACCAGGTCTTCAGCAAACACATGGCAAGAACAGGCCAGGGGGCGGGATGTGAATCTTTTGGTCTCTTGGAGATCCTCCTGCACCTTCTACCACTCTAAGCCTCTAGACCCAATCTCTACCCAACTGTGGCTGGCAAGGGGGAGGGCAGCGGAAGAGAGCCGGGCTCCTCTGACAAAGCCCTAATTTTCTGGAACCCAGATGCTCCTCACTCTTGTTCTCATCTTCTTGCTTCCCCCCAACCTCCTGACCACTCCTCAAAGTGTAGGTGATCCACCACTGTCACCAGGGTCAGGGGAAGTCCTCTGGACAGAGAGTATGGGAGTCCTGGGTTCTGGCCCTGGCTCTGCTACCAACTTCTATGTGACCTTTGTGATTCCTTTGCCTTTCTGGGCCTGTCTCTTGGTCAGTCTAGCGAGAATCAGGTGACTGCTACCGGCTCACATCTCCTGGAGTCCCTGGTCTCTTTCAGAGCTGCTCTGGCACTCCCGGGTGGGAGTGGGGGACTGTCTTGTTCCACACATCCCCAGGAGGCCTGGCTGAACCCCAGACCTGAGTCGAGGGTGGGATAATTGCTCCCTGCGGGGGATGTTTTTCCTAGAGGTGTGGGCTGGTCCCAGGGAACCTGGGACTCTGAGGGCCCCTGGGCAGGAAGGAGGCCAAGGTTTCCTTCTGGCCAGAGTGCTCAGCTCCAGCTCTGGGGCAGTGGGGAAGAGGTTGCTCAACGTTGGGGTGGGGCCCTGGCAGGGAAGATGGCGCCGAACTGGGAGAGGGAGGAAAGAGATCAGCTTGGTGACTCTGGGGCAGGGCAGGAGGGGGAGCCCCTTACTGTGTGTCCTCTCCCTAGGAGGATGAAGAAGCCCCCAACTCAAAGGAGGGTGGCGTCAGAAAGTCCCAGGGAAGAGCCCTAGGATAGGATGAGGTCCCGCAGCAGCAGATTTGTCCCGCAGTTCTTCATCCCTCACTCTTCCAAAGACTCTCATCTGAATTCCGTTTTCTTTAAACCTCCCCTGAGTTCTCCATCTGACTGCCTCAGTTTCCCTGAATCTCCAGCCAACCCTTTGGTTCTTTCCAAGCGTTTCCCTCGTATCCTCCTGACCACAGCAGCTGGTGGCATAGTGTGCGTATCTGTGGGCAGGAGTTAGTGAAGGCCTCCTTCCCTCCCTCCAAAGCCCCAGGCCCCACGGTCTGCCACCCGCAAAATTCCAACCACGAGGGGGCGCCTTCCTGCCCGCCGCCCCGTAGGGAGACCCGGCCTAGGCCGCTGGAGTTCCGAGTTCCAGGGTCCTTGTGATGGAAGGGCGGGCGCGGCCCCCACACCTGGTCTTCCAGCCCTATCCAAGGAGGACTGCCAGACAGTCCCGCTCTGAGGTGCAGGAGGCCGGGCCGCCTCGGCTACCCTGAATCCACCCGAAGCTAGAGGGCCCGAGCCCGGGGGGCGGTCGGGTGCTCACCTCCAGAGCTTGCCCAGCGTCTTGCTGAGCTCAGCGTTGTGCAGGTGCGGGTACTGGTCCGCGAGCTTCCTGCCCGCTGCCTGAGCCCACACCATGAAGGCGTTCATGGGCCGCTTGACGTGCGGCTTGCTTTTGCTGGCGCCGTTGACGCGCACGGGCATGGGCACCAGCGTCCAGTCGTAGCCGCTGAGCACCTGGCTGACGGCCTCGCGGATGCACACGGGGAACTTGTCATCGTCCGCCTCGCCGTCCTGCTGCTCCTTCTTGACCTTGCCCAGCTCGCCTGGCCCCGGGCTGGCTCGCAGGCCCGATCCGCCGCCGCCGCCGTCGGGCCCTAGCGAGGGCGCGCTCCCCGGGGACAGGCAGCGGGGCTCCTCCGAGCCCACGGGGCTCAGCTCCACCTCCGATAGGTCCTGCTCCTCCGCCATGTCGCCCCCGGCCGCCGCCGCCGCCGCCTCGGCCGCCTCCCCCGGGCCAGCCGCCGGGGTCCTCGCAAAGAGTCCAACGCCCACCTGGATGGAAGGAGGGCGCGATGGAGCGGCCGCGCGCGCAGCCCCGAGGGCGGCCCGAGACAGGACGTGGGCACAGCCCCGAGGTGGCGGCCCTTCCTGCTCCAGCTAAACCCATCTGGCCCCTGGGGCCCACGCACATGCCAGACTCTAGGTGGGTGCGTCCCGCCTCTGTGTCTTCCCACCACCTGGTCCCAACCGTCTCTTGGTGTGGGTGGCTTTTTTTTTAGCCTCCTTTTTTGGGTGGAGGTTTGTTGATGATAAGGAAGAAAAAAACGGAGCCTTTATTTTGCTCTAATCCCGGCCCCTGGAATTTCCCACCTTTTCTCTCACCTTTCCTTCTTCCCTCAGCCTGCCCCAACGGGGTTTAGAGGAGAGCCAGGTGGGGGGCAAGGGCGGGGTGTCGCCTCTCTCCACCTCACAGCAGGGTCCCAGGCCTGGGCGGGCCAGGGAGGAGCAGGCTGCGCACTCACCTCCTCGGACCTCTCCTCCAGTCTGGGGCTCGTCCTTAGGAAGTGGAAAACCGTGTCCCAAGGTGTGCGGTCCAGCTCGGGGCTGGGAGGTGACGCTGGTGGGCTGGGAGGGAGGGGCGGGGGGCCCTGAGCCTCAGGCCACGGCCTCGTTAGGACGGAGCCTGAATCCTTACCACCAACCACCCTGGCCGGACAGCCCGAGACTGACTGAGCGACTGAGCCTGAGCCGCTGCGGAGGGCTGGGGAAGGAAGGAGGGGGAGAGGGGGGAGGGGAGAGGAGGGAGGGAAGGGCAGAAGGTGGAGCCTCCAGGCTTTCCTTCATCCCCAACACTCAGGGCTCCTCCACCCGGAGCCCAGGCCCCCCCACCCAGCTCCCTGCCCTACTGCCCAGGCCCATCTTGCTGAGGCTTATCTTGGGCTTAGTCTGGGAGGTGGAGGGGAGGTTAGGCCGAGGAAGGAAGAGATGTAGGCTGGAGGGTCAGAACCTGTTGGATGGAAGAAAATTGGGCCCAACCAGGACTCCTAACGTCTGCCTCAGGTGGCAGGATGGGCACTTGGCAGGGGACTAGGGAGAGACGTGAAGGCGGTGAGGGTCCTGGGGGCCCGTGAGGGTGGCTGGCCCTAGCTGCTTCGTCTGCGAAATCCTGTTGAGTGCCTAGTGTGTGCCAGGCACTGATGCCCAGCTCCTCACCCTGCCTCCTACCTTTTCCCAGGCAGCCCTTTCTGCCCCATCCTGCACAGTAAGAGAGACTTCTCAGGGATCCCTCTGAGAAGTGCAGAGCCCCAGCTTGACCCCTGGTCCCTTCTCTGCAGACACCCAGCACACGCGCGTTCTGGTCTGGTTCAAGGTGGAAACACAAGACTAAAGCTGCCAGGAGGCCAAGGTGGGACAGGTTGGGGGCCCTCTCTCAGTAGGTCTTAGAGGCATTTTGGGTTGCTACCTACTGGGACCCAGCTCCTTCCACACTGGGCTCACCCTGTCTTGGGAGAGGGTAGGGGAGTCCTAGTCCTGATTGTCACGAAGTCCTCTACTCCCCCACCCCAACAAGGGGTGGGGACTTGCCCTGCCTCTTCCCTCCTCTGCCCACCTCTCCCTCCCTCCCCTTTTCTTTCCTGCCCATCCTCCGTTGACACCTTTT
Task1_train_28791
Given this variant in gene POLR2F, SOX10 (RNA polymerase II, I and III subunit F| SRY-box transcription factor 10) on Chromosome 22, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Waardenburg syndrome type 1
TCAGCAAGTAGTGCCAGTTTTCCTGACTGCCACACCTCAGGCTGGCCCCTGTGCACACAGCTTGAGTGATGGCCAAGAATAAGTCCTCCTGAAGGGAGTCCAAGCCCAGGGTTCTGGGCTGGGGGAACCTGGGGACAGGGACAATGGAGGAGCCAATCTTAAACCCTTGGCAATGGGAGATGGAGGGAAAATGAGGTCCGTCCTTGCTTTGACTCTCGTTGGGCTCGTACTGTGGTCTTCTCATGGTCCCCAGAGTCTGCCCTATCTGTATGTCTCTCCTGGTTGTCTGTTTCTCACTTGCTCTTTGTCCCCTGGCACTAAAGATACTGGCCTGGGCCAAGCCCCACCCAGATCTGGATGGACCTTGGGTGGAGGAGCTAGCTGTGACCTCTGCTCTTGGGCAGAACTGGGCTGTCTGGGTCCACACAGCGGGCTGGTCGCTGAGCCCTGGGCCTGCCCTGGGTGAGCAGGGCACTGAGGGCTGAGAAGGGGCAGGGGAAGGGGCACCAGGTCTTCAGCAAACACATGGCAAGAACAGGCCAGGGGGCGGGATGTGAATCTTTTGGTCTCTTGGAGATCCTCCTGCACCTTCTACCACTCTAAGCCTCTAGACCCAATCTCTACCCAACTGTGGCTGGCAAGGGGGAGGGCAGCGGAAGAGAGCCGGGCTCCTCTGACAAAGCCCTAATTTTCTGGAACCCAGATGCTCCTCACTCTTGTTCTCATCTTCTTGCTTCCCCCCAACCTCCTGACCACTCCTCAAAGTGTAGGTGATCCACCACTGTCACCAGGGTCAGGGGAAGTCCTCTGGACAGAGAGTATGGGAGTCCTGGGTTCTGGCCCTGGCTCTGCTACCAACTTCTATGTGACCTTTGTGATTCCTTTGCCTTTCTGGGCCTGTCTCTTGGTCAGTCTAGCGAGAATCAGGTGACTGCTACCGGCTCACATCTCCTGGAGTCCCTGGTCTCTTTCAGAGCTGCTCTGGCACTCCCGGGTGGGAGTGGGGGACTGTCTTGTTCCACACATCCCCAGGAGGCCTGGCTGAACCCCAGACCTGAGTCGAGGGTGGGATAATTGCTCCCTGCGGGGGATGTTTTTCCTAGAGGTGTGGGCTGGTCCCAGGGAACCTGGGACTCTGAGGGCCCCTGGGCAGGAAGGAGGCCAAGGTTTCCTTCTGGCCAGAGTGCTCAGCTCCAGCTCTGGGGCAGTGGGGAAGAGGTTGCTCAACGTTGGGGTGGGGCCCTGGCAGGGAAGATGGCGCCGAACTGGGAGAGGGAGGAAAGAGATCAGCTTGGTGACTCTGGGGCAGGGCAGGAGGGGGAGCCCCTTACTGTGTGTCCTCTCCCTAGGAGGATGAAGAAGCCCCCAACTCAAAGGAGGGTGGCGTCAGAAAGTCCCAGGGAAGAGCCCTAGGATAGGATGAGGTCCCGCAGCAGCAGATTTGTCCCGCAGTTCTTCATCCCTCACTCTTCCAAAGACTCTCATCTGAATTCCGTTTTCTTTAAACCTCCCCTGAGTTCTCCATCTGACTGCCTCAGTTTCCCTGAATCTCCAGCCAACCCTTTGGTTCTTTCCAAGCGTTTCCCTCGTATCCTCCTGACCACAGCAGCTGGTGGCATAGTGTGCGTATCTGTGGGCAGGAGTTAGTGAAGGCCTCCTTCCCTCCCTCCAAAGCCCCAGGCCCCACGGTCTGCCACCCGCAAAATTCCAACCACGAGGGGGCGCCTTCCTGCCCGCCGCCCCGTAGGGAGACCCGGCCTAGGCCGCTGGAGTTCCGAGTTCCAGGGTCCTTGTGATGGAAGGGCGGGCGCGGCCCCCACACCTGGTCTTCCAGCCCTATCCAAGGAGGACTGCCAGACAGTCCCGCTCTGAGGTGCAGGAGGCCGGGCCGCCTCGGCTACCCTGAATCCACCCGAAGCTAGAGGGCCCGAGCCCGGGGGGCGGTCGGGTGCTCACCTCCAGAGCTTGCCCAGCGTCTTGCTGAGCTCAGCGTTGTGCAGGTGCGGGTACTGGTCCGCGAGCTTCCTGCGCGCTGCCTGAGCCCACACCATGAAGGCGTTCATGGGCCGCTTGACGTGCGGCTTGCTTTTGCTGGCGCCGTTGACGCGCACGGGCATGGGCACCAGCGTCCAGTCGTAGCCGCTGAGCACCTGGCTGACGGCCTCGCGGATGCACACGGGGAACTTGTCATCGTCCGCCTCGCCGTCCTGCTGCTCCTTCTTGACCTTGCCCAGCTCGCCTGGCCCCGGGCTGGCTCGCAGGCCCGATCCGCCGCCGCCGCCGTCGGGCCCTAGCGAGGGCGCGCTCCCCGGGGACAGGCAGCGGGGCTCCTCCGAGCCCACGGGGCTCAGCTCCACCTCCGATAGGTCCTGCTCCTCCGCCATGTCGCCCCCGGCCGCCGCCGCCGCCGCCTCGGCCGCCTCCCCCGGGCCAGCCGCCGGGGTCCTCGCAAAGAGTCCAACGCCCACCTGGATGGAAGGAGGGCGCGATGGAGCGGCCGCGCGCGCAGCCCCGAGGGCGGCCCGAGACAGGACGTGGGCACAGCCCCGAGGTGGCGGCCCTTCCTGCTCCAGCTAAACCCATCTGGCCCCTGGGGCCCACGCACATGCCAGACTCTAGGTGGGTGCGTCCCGCCTCTGTGTCTTCCCACCACCTGGTCCCAACCGTCTCTTGGTGTGGGTGGCTTTTTTTTTAGCCTCCTTTTTTGGGTGGAGGTTTGTTGATGATAAGGAAGAAAAAAACGGAGCCTTTATTTTGCTCTAATCCCGGCCCCTGGAATTTCCCACCTTTTCTCTCACCTTTCCTTCTTCCCTCAGCCTGCCCCAACGGGGTTTAGAGGAGAGCCAGGTGGGGGGCAAGGGCGGGGTGTCGCCTCTCTCCACCTCACAGCAGGGTCCCAGGCCTGGGCGGGCCAGGGAGGAGCAGGCTGCGCACTCACCTCCTCGGACCTCTCCTCCAGTCTGGGGCTCGTCCTTAGGAAGTGGAAAACCGTGTCCCAAGGTGTGCGGTCCAGCTCGGGGCTGGGAGGTGACGCTGGTGGGCTGGGAGGGAGGGGCGGGGGGCCCTGAGCCTCAGGCCACGGCCTCGTTAGGACGGAGCCTGAATCCTTACCACCAACCACCCTGGCCGGACAGCCCGAGACTGACTGAGCGACTGAGCCTGAGCCGCTGCGGAGGGCTGGGGAAGGAAGGAGGGGGAGAGGGGGGAGGGGAGAGGAGGGAGGGAAGGGCAGAAGGTGGAGCCTCCAGGCTTTCCTTCATCCCCAACACTCAGGGCTCCTCCACCCGGAGCCCAGGCCCCCCCACCCAGCTCCCTGCCCTACTGCCCAGGCCCATCTTGCTGAGGCTTATCTTGGGCTTAGTCTGGGAGGTGGAGGGGAGGTTAGGCCGAGGAAGGAAGAGATGTAGGCTGGAGGGTCAGAACCTGTTGGATGGAAGAAAATTGGGCCCAACCAGGACTCCTAACGTCTGCCTCAGGTGGCAGGATGGGCACTTGGCAGGGGACTAGGGAGAGACGTGAAGGCGGTGAGGGTCCTGGGGGCCCGTGAGGGTGGCTGGCCCTAGCTGCTTCGTCTGCGAAATCCTGTTGAGTGCCTAGTGTGTGCCAGGCACTGATGCCCAGCTCCTCACCCTGCCTCCTACCTTTTCCCAGGCAGCCCTTTCTGCCCCATCCTGCACAGTAAGAGAGACTTCTCAGGGATCCCTCTGAGAAGTGCAGAGCCCCAGCTTGACCCCTGGTCCCTTCTCTGCAGACACCCAGCACACGCGCGTTCTGGTCTGGTTCAAGGTGGAAACACAAGACTAAAGCTGCCAGGAGGCCAAGGTGGGACAGGTTGGGGGCCCTCTCTCAGTAGGTCTTAGAGGCATTTTGGGTTGCTACCTACTGGGACCCAGCTCCTTCCACACTGGGCTCACCCTGTCTTGGGAGAGGGTAGGGGAGTCCTAGTCCTGATTGTCACGAAGTCCTCTACTCCCCCACCCCAACAAGGGGTGGGGACTTGCCCTGCCTCTTCCCTCCTCTGCCCACCTCTCCCTCCCTCCCCTTTTCTTTCCTGCCCATCCTCCGTTGACACCTTTTTCTCTCTCTTTCCTTGGCC
TCAGCAAGTAGTGCCAGTTTTCCTGACTGCCACACCTCAGGCTGGCCCCTGTGCACACAGCTTGAGTGATGGCCAAGAATAAGTCCTCCTGAAGGGAGTCCAAGCCCAGGGTTCTGGGCTGGGGGAACCTGGGGACAGGGACAATGGAGGAGCCAATCTTAAACCCTTGGCAATGGGAGATGGAGGGAAAATGAGGTCCGTCCTTGCTTTGACTCTCGTTGGGCTCGTACTGTGGTCTTCTCATGGTCCCCAGAGTCTGCCCTATCTGTATGTCTCTCCTGGTTGTCTGTTTCTCACTTGCTCTTTGTCCCCTGGCACTAAAGATACTGGCCTGGGCCAAGCCCCACCCAGATCTGGATGGACCTTGGGTGGAGGAGCTAGCTGTGACCTCTGCTCTTGGGCAGAACTGGGCTGTCTGGGTCCACACAGCGGGCTGGTCGCTGAGCCCTGGGCCTGCCCTGGGTGAGCAGGGCACTGAGGGCTGAGAAGGGGCAGGGGAAGGGGCACCAGGTCTTCAGCAAACACATGGCAAGAACAGGCCAGGGGGCGGGATGTGAATCTTTTGGTCTCTTGGAGATCCTCCTGCACCTTCTACCACTCTAAGCCTCTAGACCCAATCTCTACCCAACTGTGGCTGGCAAGGGGGAGGGCAGCGGAAGAGAGCCGGGCTCCTCTGACAAAGCCCTAATTTTCTGGAACCCAGATGCTCCTCACTCTTGTTCTCATCTTCTTGCTTCCCCCCAACCTCCTGACCACTCCTCAAAGTGTAGGTGATCCACCACTGTCACCAGGGTCAGGGGAAGTCCTCTGGACAGAGAGTATGGGAGTCCTGGGTTCTGGCCCTGGCTCTGCTACCAACTTCTATGTGACCTTTGTGATTCCTTTGCCTTTCTGGGCCTGTCTCTTGGTCAGTCTAGCGAGAATCAGGTGACTGCTACCGGCTCACATCTCCTGGAGTCCCTGGTCTCTTTCAGAGCTGCTCTGGCACTCCCGGGTGGGAGTGGGGGACTGTCTTGTTCCACACATCCCCAGGAGGCCTGGCTGAACCCCAGACCTGAGTCGAGGGTGGGATAATTGCTCCCTGCGGGGGATGTTTTTCCTAGAGGTGTGGGCTGGTCCCAGGGAACCTGGGACTCTGAGGGCCCCTGGGCAGGAAGGAGGCCAAGGTTTCCTTCTGGCCAGAGTGCTCAGCTCCAGCTCTGGGGCAGTGGGGAAGAGGTTGCTCAACGTTGGGGTGGGGCCCTGGCAGGGAAGATGGCGCCGAACTGGGAGAGGGAGGAAAGAGATCAGCTTGGTGACTCTGGGGCAGGGCAGGAGGGGGAGCCCCTTACTGTGTGTCCTCTCCCTAGGAGGATGAAGAAGCCCCCAACTCAAAGGAGGGTGGCGTCAGAAAGTCCCAGGGAAGAGCCCTAGGATAGGATGAGGTCCCGCAGCAGCAGATTTGTCCCGCAGTTCTTCATCCCTCACTCTTCCAAAGACTCTCATCTGAATTCCGTTTTCTTTAAACCTCCCCTGAGTTCTCCATCTGACTGCCTCAGTTTCCCTGAATCTCCAGCCAACCCTTTGGTTCTTTCCAAGCGTTTCCCTCGTATCCTCCTGACCACAGCAGCTGGTGGCATAGTGTGCGTATCTGTGGGCAGGAGTTAGTGAAGGCCTCCTTCCCTCCCTCCAAAGCCCCAGGCCCCACGGTCTGCCACCCGCAAAATTCCAACCACGAGGGGGCGCCTTCCTGCCCGCCGCCCCGTAGGGAGACCCGGCCTAGGCCGCTGGAGTTCCGAGTTCCAGGGTCCTTGTGATGGAAGGGCGGGCGCGGCCCCCACACCTGGTCTTCCAGCCCTATCCAAGGAGGACTGCCAGACAGTCCCGCTCTGAGGTGCAGGAGGCCGGGCCGCCTCGGCTACCCTGAATCCACCCGAAGCTAGAGGGCCCGAGCCCGGGGGGCGGTCGGGTGCTCACCTCCAGAGCTTGCCCAGCGTCTTGCTGAGCTCAGCGTTGTGCAGGTGCGGGTACTGGTCCGCGAGCTTCCTGCGCGCTGCCTGAGCCCACACTATGAAGGCGTTCATGGGCCGCTTGACGTGCGGCTTGCTTTTGCTGGCGCCGTTGACGCGCACGGGCATGGGCACCAGCGTCCAGTCGTAGCCGCTGAGCACCTGGCTGACGGCCTCGCGGATGCACACGGGGAACTTGTCATCGTCCGCCTCGCCGTCCTGCTGCTCCTTCTTGACCTTGCCCAGCTCGCCTGGCCCCGGGCTGGCTCGCAGGCCCGATCCGCCGCCGCCGCCGTCGGGCCCTAGCGAGGGCGCGCTCCCCGGGGACAGGCAGCGGGGCTCCTCCGAGCCCACGGGGCTCAGCTCCACCTCCGATAGGTCCTGCTCCTCCGCCATGTCGCCCCCGGCCGCCGCCGCCGCCGCCTCGGCCGCCTCCCCCGGGCCAGCCGCCGGGGTCCTCGCAAAGAGTCCAACGCCCACCTGGATGGAAGGAGGGCGCGATGGAGCGGCCGCGCGCGCAGCCCCGAGGGCGGCCCGAGACAGGACGTGGGCACAGCCCCGAGGTGGCGGCCCTTCCTGCTCCAGCTAAACCCATCTGGCCCCTGGGGCCCACGCACATGCCAGACTCTAGGTGGGTGCGTCCCGCCTCTGTGTCTTCCCACCACCTGGTCCCAACCGTCTCTTGGTGTGGGTGGCTTTTTTTTTAGCCTCCTTTTTTGGGTGGAGGTTTGTTGATGATAAGGAAGAAAAAAACGGAGCCTTTATTTTGCTCTAATCCCGGCCCCTGGAATTTCCCACCTTTTCTCTCACCTTTCCTTCTTCCCTCAGCCTGCCCCAACGGGGTTTAGAGGAGAGCCAGGTGGGGGGCAAGGGCGGGGTGTCGCCTCTCTCCACCTCACAGCAGGGTCCCAGGCCTGGGCGGGCCAGGGAGGAGCAGGCTGCGCACTCACCTCCTCGGACCTCTCCTCCAGTCTGGGGCTCGTCCTTAGGAAGTGGAAAACCGTGTCCCAAGGTGTGCGGTCCAGCTCGGGGCTGGGAGGTGACGCTGGTGGGCTGGGAGGGAGGGGCGGGGGGCCCTGAGCCTCAGGCCACGGCCTCGTTAGGACGGAGCCTGAATCCTTACCACCAACCACCCTGGCCGGACAGCCCGAGACTGACTGAGCGACTGAGCCTGAGCCGCTGCGGAGGGCTGGGGAAGGAAGGAGGGGGAGAGGGGGGAGGGGAGAGGAGGGAGGGAAGGGCAGAAGGTGGAGCCTCCAGGCTTTCCTTCATCCCCAACACTCAGGGCTCCTCCACCCGGAGCCCAGGCCCCCCCACCCAGCTCCCTGCCCTACTGCCCAGGCCCATCTTGCTGAGGCTTATCTTGGGCTTAGTCTGGGAGGTGGAGGGGAGGTTAGGCCGAGGAAGGAAGAGATGTAGGCTGGAGGGTCAGAACCTGTTGGATGGAAGAAAATTGGGCCCAACCAGGACTCCTAACGTCTGCCTCAGGTGGCAGGATGGGCACTTGGCAGGGGACTAGGGAGAGACGTGAAGGCGGTGAGGGTCCTGGGGGCCCGTGAGGGTGGCTGGCCCTAGCTGCTTCGTCTGCGAAATCCTGTTGAGTGCCTAGTGTGTGCCAGGCACTGATGCCCAGCTCCTCACCCTGCCTCCTACCTTTTCCCAGGCAGCCCTTTCTGCCCCATCCTGCACAGTAAGAGAGACTTCTCAGGGATCCCTCTGAGAAGTGCAGAGCCCCAGCTTGACCCCTGGTCCCTTCTCTGCAGACACCCAGCACACGCGCGTTCTGGTCTGGTTCAAGGTGGAAACACAAGACTAAAGCTGCCAGGAGGCCAAGGTGGGACAGGTTGGGGGCCCTCTCTCAGTAGGTCTTAGAGGCATTTTGGGTTGCTACCTACTGGGACCCAGCTCCTTCCACACTGGGCTCACCCTGTCTTGGGAGAGGGTAGGGGAGTCCTAGTCCTGATTGTCACGAAGTCCTCTACTCCCCCACCCCAACAAGGGGTGGGGACTTGCCCTGCCTCTTCCCTCCTCTGCCCACCTCTCCCTCCCTCCCCTTTTCTTTCCTGCCCATCCTCCGTTGACACCTTTTTCTCTCTCTTTCCTTGGCC
Task1_train_28792
The following genetic variant occurs in POLR2F, SOX10 (RNA polymerase II, I and III subunit F| SRY-box transcription factor 10) on Chromosome 22. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Waardenburg syndrome type 2E
GTGCCAGTTTTCCTGACTGCCACACCTCAGGCTGGCCCCTGTGCACACAGCTTGAGTGATGGCCAAGAATAAGTCCTCCTGAAGGGAGTCCAAGCCCAGGGTTCTGGGCTGGGGGAACCTGGGGACAGGGACAATGGAGGAGCCAATCTTAAACCCTTGGCAATGGGAGATGGAGGGAAAATGAGGTCCGTCCTTGCTTTGACTCTCGTTGGGCTCGTACTGTGGTCTTCTCATGGTCCCCAGAGTCTGCCCTATCTGTATGTCTCTCCTGGTTGTCTGTTTCTCACTTGCTCTTTGTCCCCTGGCACTAAAGATACTGGCCTGGGCCAAGCCCCACCCAGATCTGGATGGACCTTGGGTGGAGGAGCTAGCTGTGACCTCTGCTCTTGGGCAGAACTGGGCTGTCTGGGTCCACACAGCGGGCTGGTCGCTGAGCCCTGGGCCTGCCCTGGGTGAGCAGGGCACTGAGGGCTGAGAAGGGGCAGGGGAAGGGGCACCAGGTCTTCAGCAAACACATGGCAAGAACAGGCCAGGGGGCGGGATGTGAATCTTTTGGTCTCTTGGAGATCCTCCTGCACCTTCTACCACTCTAAGCCTCTAGACCCAATCTCTACCCAACTGTGGCTGGCAAGGGGGAGGGCAGCGGAAGAGAGCCGGGCTCCTCTGACAAAGCCCTAATTTTCTGGAACCCAGATGCTCCTCACTCTTGTTCTCATCTTCTTGCTTCCCCCCAACCTCCTGACCACTCCTCAAAGTGTAGGTGATCCACCACTGTCACCAGGGTCAGGGGAAGTCCTCTGGACAGAGAGTATGGGAGTCCTGGGTTCTGGCCCTGGCTCTGCTACCAACTTCTATGTGACCTTTGTGATTCCTTTGCCTTTCTGGGCCTGTCTCTTGGTCAGTCTAGCGAGAATCAGGTGACTGCTACCGGCTCACATCTCCTGGAGTCCCTGGTCTCTTTCAGAGCTGCTCTGGCACTCCCGGGTGGGAGTGGGGGACTGTCTTGTTCCACACATCCCCAGGAGGCCTGGCTGAACCCCAGACCTGAGTCGAGGGTGGGATAATTGCTCCCTGCGGGGGATGTTTTTCCTAGAGGTGTGGGCTGGTCCCAGGGAACCTGGGACTCTGAGGGCCCCTGGGCAGGAAGGAGGCCAAGGTTTCCTTCTGGCCAGAGTGCTCAGCTCCAGCTCTGGGGCAGTGGGGAAGAGGTTGCTCAACGTTGGGGTGGGGCCCTGGCAGGGAAGATGGCGCCGAACTGGGAGAGGGAGGAAAGAGATCAGCTTGGTGACTCTGGGGCAGGGCAGGAGGGGGAGCCCCTTACTGTGTGTCCTCTCCCTAGGAGGATGAAGAAGCCCCCAACTCAAAGGAGGGTGGCGTCAGAAAGTCCCAGGGAAGAGCCCTAGGATAGGATGAGGTCCCGCAGCAGCAGATTTGTCCCGCAGTTCTTCATCCCTCACTCTTCCAAAGACTCTCATCTGAATTCCGTTTTCTTTAAACCTCCCCTGAGTTCTCCATCTGACTGCCTCAGTTTCCCTGAATCTCCAGCCAACCCTTTGGTTCTTTCCAAGCGTTTCCCTCGTATCCTCCTGACCACAGCAGCTGGTGGCATAGTGTGCGTATCTGTGGGCAGGAGTTAGTGAAGGCCTCCTTCCCTCCCTCCAAAGCCCCAGGCCCCACGGTCTGCCACCCGCAAAATTCCAACCACGAGGGGGCGCCTTCCTGCCCGCCGCCCCGTAGGGAGACCCGGCCTAGGCCGCTGGAGTTCCGAGTTCCAGGGTCCTTGTGATGGAAGGGCGGGCGCGGCCCCCACACCTGGTCTTCCAGCCCTATCCAAGGAGGACTGCCAGACAGTCCCGCTCTGAGGTGCAGGAGGCCGGGCCGCCTCGGCTACCCTGAATCCACCCGAAGCTAGAGGGCCCGAGCCCGGGGGGCGGTCGGGTGCTCACCTCCAGAGCTTGCCCAGCGTCTTGCTGAGCTCAGCGTTGTGCAGGTGCGGGTACTGGTCCGCGAGCTTCCTGCGCGCTGCCTGAGCCCACACCATGAAGGCGTTCATGGGCCGCTTGACGTGCGGCTTGCTTTTGCTGGCGCCGTTGACGCGCACGGGCATGGGCACCAGCGTCCAGTCGTAGCCGCTGAGCACCTGGCTGACGGCCTCGCGGATGCACACGGGGAACTTGTCATCGTCCGCCTCGCCGTCCTGCTGCTCCTTCTTGACCTTGCCCAGCTCGCCTGGCCCCGGGCTGGCTCGCAGGCCCGATCCGCCGCCGCCGCCGTCGGGCCCTAGCGAGGGCGCGCTCCCCGGGGACAGGCAGCGGGGCTCCTCCGAGCCCACGGGGCTCAGCTCCACCTCCGATAGGTCCTGCTCCTCCGCCATGTCGCCCCCGGCCGCCGCCGCCGCCGCCTCGGCCGCCTCCCCCGGGCCAGCCGCCGGGGTCCTCGCAAAGAGTCCAACGCCCACCTGGATGGAAGGAGGGCGCGATGGAGCGGCCGCGCGCGCAGCCCCGAGGGCGGCCCGAGACAGGACGTGGGCACAGCCCCGAGGTGGCGGCCCTTCCTGCTCCAGCTAAACCCATCTGGCCCCTGGGGCCCACGCACATGCCAGACTCTAGGTGGGTGCGTCCCGCCTCTGTGTCTTCCCACCACCTGGTCCCAACCGTCTCTTGGTGTGGGTGGCTTTTTTTTTAGCCTCCTTTTTTGGGTGGAGGTTTGTTGATGATAAGGAAGAAAAAAACGGAGCCTTTATTTTGCTCTAATCCCGGCCCCTGGAATTTCCCACCTTTTCTCTCACCTTTCCTTCTTCCCTCAGCCTGCCCCAACGGGGTTTAGAGGAGAGCCAGGTGGGGGGCAAGGGCGGGGTGTCGCCTCTCTCCACCTCACAGCAGGGTCCCAGGCCTGGGCGGGCCAGGGAGGAGCAGGCTGCGCACTCACCTCCTCGGACCTCTCCTCCAGTCTGGGGCTCGTCCTTAGGAAGTGGAAAACCGTGTCCCAAGGTGTGCGGTCCAGCTCGGGGCTGGGAGGTGACGCTGGTGGGCTGGGAGGGAGGGGCGGGGGGCCCTGAGCCTCAGGCCACGGCCTCGTTAGGACGGAGCCTGAATCCTTACCACCAACCACCCTGGCCGGACAGCCCGAGACTGACTGAGCGACTGAGCCTGAGCCGCTGCGGAGGGCTGGGGAAGGAAGGAGGGGGAGAGGGGGGAGGGGAGAGGAGGGAGGGAAGGGCAGAAGGTGGAGCCTCCAGGCTTTCCTTCATCCCCAACACTCAGGGCTCCTCCACCCGGAGCCCAGGCCCCCCCACCCAGCTCCCTGCCCTACTGCCCAGGCCCATCTTGCTGAGGCTTATCTTGGGCTTAGTCTGGGAGGTGGAGGGGAGGTTAGGCCGAGGAAGGAAGAGATGTAGGCTGGAGGGTCAGAACCTGTTGGATGGAAGAAAATTGGGCCCAACCAGGACTCCTAACGTCTGCCTCAGGTGGCAGGATGGGCACTTGGCAGGGGACTAGGGAGAGACGTGAAGGCGGTGAGGGTCCTGGGGGCCCGTGAGGGTGGCTGGCCCTAGCTGCTTCGTCTGCGAAATCCTGTTGAGTGCCTAGTGTGTGCCAGGCACTGATGCCCAGCTCCTCACCCTGCCTCCTACCTTTTCCCAGGCAGCCCTTTCTGCCCCATCCTGCACAGTAAGAGAGACTTCTCAGGGATCCCTCTGAGAAGTGCAGAGCCCCAGCTTGACCCCTGGTCCCTTCTCTGCAGACACCCAGCACACGCGCGTTCTGGTCTGGTTCAAGGTGGAAACACAAGACTAAAGCTGCCAGGAGGCCAAGGTGGGACAGGTTGGGGGCCCTCTCTCAGTAGGTCTTAGAGGCATTTTGGGTTGCTACCTACTGGGACCCAGCTCCTTCCACACTGGGCTCACCCTGTCTTGGGAGAGGGTAGGGGAGTCCTAGTCCTGATTGTCACGAAGTCCTCTACTCCCCCACCCCAACAAGGGGTGGGGACTTGCCCTGCCTCTTCCCTCCTCTGCCCACCTCTCCCTCCCTCCCCTTTTCTTTCCTGCCCATCCTCCGTTGACACCTTTTTCTCTCTCTTTCCTTGGCCTCTCCTCCAA
GTGCCAGTTTTCCTGACTGCCACACCTCAGGCTGGCCCCTGTGCACACAGCTTGAGTGATGGCCAAGAATAAGTCCTCCTGAAGGGAGTCCAAGCCCAGGGTTCTGGGCTGGGGGAACCTGGGGACAGGGACAATGGAGGAGCCAATCTTAAACCCTTGGCAATGGGAGATGGAGGGAAAATGAGGTCCGTCCTTGCTTTGACTCTCGTTGGGCTCGTACTGTGGTCTTCTCATGGTCCCCAGAGTCTGCCCTATCTGTATGTCTCTCCTGGTTGTCTGTTTCTCACTTGCTCTTTGTCCCCTGGCACTAAAGATACTGGCCTGGGCCAAGCCCCACCCAGATCTGGATGGACCTTGGGTGGAGGAGCTAGCTGTGACCTCTGCTCTTGGGCAGAACTGGGCTGTCTGGGTCCACACAGCGGGCTGGTCGCTGAGCCCTGGGCCTGCCCTGGGTGAGCAGGGCACTGAGGGCTGAGAAGGGGCAGGGGAAGGGGCACCAGGTCTTCAGCAAACACATGGCAAGAACAGGCCAGGGGGCGGGATGTGAATCTTTTGGTCTCTTGGAGATCCTCCTGCACCTTCTACCACTCTAAGCCTCTAGACCCAATCTCTACCCAACTGTGGCTGGCAAGGGGGAGGGCAGCGGAAGAGAGCCGGGCTCCTCTGACAAAGCCCTAATTTTCTGGAACCCAGATGCTCCTCACTCTTGTTCTCATCTTCTTGCTTCCCCCCAACCTCCTGACCACTCCTCAAAGTGTAGGTGATCCACCACTGTCACCAGGGTCAGGGGAAGTCCTCTGGACAGAGAGTATGGGAGTCCTGGGTTCTGGCCCTGGCTCTGCTACCAACTTCTATGTGACCTTTGTGATTCCTTTGCCTTTCTGGGCCTGTCTCTTGGTCAGTCTAGCGAGAATCAGGTGACTGCTACCGGCTCACATCTCCTGGAGTCCCTGGTCTCTTTCAGAGCTGCTCTGGCACTCCCGGGTGGGAGTGGGGGACTGTCTTGTTCCACACATCCCCAGGAGGCCTGGCTGAACCCCAGACCTGAGTCGAGGGTGGGATAATTGCTCCCTGCGGGGGATGTTTTTCCTAGAGGTGTGGGCTGGTCCCAGGGAACCTGGGACTCTGAGGGCCCCTGGGCAGGAAGGAGGCCAAGGTTTCCTTCTGGCCAGAGTGCTCAGCTCCAGCTCTGGGGCAGTGGGGAAGAGGTTGCTCAACGTTGGGGTGGGGCCCTGGCAGGGAAGATGGCGCCGAACTGGGAGAGGGAGGAAAGAGATCAGCTTGGTGACTCTGGGGCAGGGCAGGAGGGGGAGCCCCTTACTGTGTGTCCTCTCCCTAGGAGGATGAAGAAGCCCCCAACTCAAAGGAGGGTGGCGTCAGAAAGTCCCAGGGAAGAGCCCTAGGATAGGATGAGGTCCCGCAGCAGCAGATTTGTCCCGCAGTTCTTCATCCCTCACTCTTCCAAAGACTCTCATCTGAATTCCGTTTTCTTTAAACCTCCCCTGAGTTCTCCATCTGACTGCCTCAGTTTCCCTGAATCTCCAGCCAACCCTTTGGTTCTTTCCAAGCGTTTCCCTCGTATCCTCCTGACCACAGCAGCTGGTGGCATAGTGTGCGTATCTGTGGGCAGGAGTTAGTGAAGGCCTCCTTCCCTCCCTCCAAAGCCCCAGGCCCCACGGTCTGCCACCCGCAAAATTCCAACCACGAGGGGGCGCCTTCCTGCCCGCCGCCCCGTAGGGAGACCCGGCCTAGGCCGCTGGAGTTCCGAGTTCCAGGGTCCTTGTGATGGAAGGGCGGGCGCGGCCCCCACACCTGGTCTTCCAGCCCTATCCAAGGAGGACTGCCAGACAGTCCCGCTCTGAGGTGCAGGAGGCCGGGCCGCCTCGGCTACCCTGAATCCACCCGAAGCTAGAGGGCCCGAGCCCGGGGGGCGGTCGGGTGCTCACCTCCAGAGCTTGCCCAGCGTCTTGCTGAGCTCAGCGTTGTGCAGGTGCGGGTACTGGTCCGCGAGCTTCCTGCGCGCTGCCTGAGCCCACACCATGAAGGCGCTCATGGGCCGCTTGACGTGCGGCTTGCTTTTGCTGGCGCCGTTGACGCGCACGGGCATGGGCACCAGCGTCCAGTCGTAGCCGCTGAGCACCTGGCTGACGGCCTCGCGGATGCACACGGGGAACTTGTCATCGTCCGCCTCGCCGTCCTGCTGCTCCTTCTTGACCTTGCCCAGCTCGCCTGGCCCCGGGCTGGCTCGCAGGCCCGATCCGCCGCCGCCGCCGTCGGGCCCTAGCGAGGGCGCGCTCCCCGGGGACAGGCAGCGGGGCTCCTCCGAGCCCACGGGGCTCAGCTCCACCTCCGATAGGTCCTGCTCCTCCGCCATGTCGCCCCCGGCCGCCGCCGCCGCCGCCTCGGCCGCCTCCCCCGGGCCAGCCGCCGGGGTCCTCGCAAAGAGTCCAACGCCCACCTGGATGGAAGGAGGGCGCGATGGAGCGGCCGCGCGCGCAGCCCCGAGGGCGGCCCGAGACAGGACGTGGGCACAGCCCCGAGGTGGCGGCCCTTCCTGCTCCAGCTAAACCCATCTGGCCCCTGGGGCCCACGCACATGCCAGACTCTAGGTGGGTGCGTCCCGCCTCTGTGTCTTCCCACCACCTGGTCCCAACCGTCTCTTGGTGTGGGTGGCTTTTTTTTTAGCCTCCTTTTTTGGGTGGAGGTTTGTTGATGATAAGGAAGAAAAAAACGGAGCCTTTATTTTGCTCTAATCCCGGCCCCTGGAATTTCCCACCTTTTCTCTCACCTTTCCTTCTTCCCTCAGCCTGCCCCAACGGGGTTTAGAGGAGAGCCAGGTGGGGGGCAAGGGCGGGGTGTCGCCTCTCTCCACCTCACAGCAGGGTCCCAGGCCTGGGCGGGCCAGGGAGGAGCAGGCTGCGCACTCACCTCCTCGGACCTCTCCTCCAGTCTGGGGCTCGTCCTTAGGAAGTGGAAAACCGTGTCCCAAGGTGTGCGGTCCAGCTCGGGGCTGGGAGGTGACGCTGGTGGGCTGGGAGGGAGGGGCGGGGGGCCCTGAGCCTCAGGCCACGGCCTCGTTAGGACGGAGCCTGAATCCTTACCACCAACCACCCTGGCCGGACAGCCCGAGACTGACTGAGCGACTGAGCCTGAGCCGCTGCGGAGGGCTGGGGAAGGAAGGAGGGGGAGAGGGGGGAGGGGAGAGGAGGGAGGGAAGGGCAGAAGGTGGAGCCTCCAGGCTTTCCTTCATCCCCAACACTCAGGGCTCCTCCACCCGGAGCCCAGGCCCCCCCACCCAGCTCCCTGCCCTACTGCCCAGGCCCATCTTGCTGAGGCTTATCTTGGGCTTAGTCTGGGAGGTGGAGGGGAGGTTAGGCCGAGGAAGGAAGAGATGTAGGCTGGAGGGTCAGAACCTGTTGGATGGAAGAAAATTGGGCCCAACCAGGACTCCTAACGTCTGCCTCAGGTGGCAGGATGGGCACTTGGCAGGGGACTAGGGAGAGACGTGAAGGCGGTGAGGGTCCTGGGGGCCCGTGAGGGTGGCTGGCCCTAGCTGCTTCGTCTGCGAAATCCTGTTGAGTGCCTAGTGTGTGCCAGGCACTGATGCCCAGCTCCTCACCCTGCCTCCTACCTTTTCCCAGGCAGCCCTTTCTGCCCCATCCTGCACAGTAAGAGAGACTTCTCAGGGATCCCTCTGAGAAGTGCAGAGCCCCAGCTTGACCCCTGGTCCCTTCTCTGCAGACACCCAGCACACGCGCGTTCTGGTCTGGTTCAAGGTGGAAACACAAGACTAAAGCTGCCAGGAGGCCAAGGTGGGACAGGTTGGGGGCCCTCTCTCAGTAGGTCTTAGAGGCATTTTGGGTTGCTACCTACTGGGACCCAGCTCCTTCCACACTGGGCTCACCCTGTCTTGGGAGAGGGTAGGGGAGTCCTAGTCCTGATTGTCACGAAGTCCTCTACTCCCCCACCCCAACAAGGGGTGGGGACTTGCCCTGCCTCTTCCCTCCTCTGCCCACCTCTCCCTCCCTCCCCTTTTCTTTCCTGCCCATCCTCCGTTGACACCTTTTTCTCTCTCTTTCCTTGGCCTCTCCTCCAA
Task1_train_28793
The gene POLR2F, SOX10 (RNA polymerase II, I and III subunit F| SRY-box transcription factor 10) on Chromosome 22 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Waardenburg syndrome type 2E, without neurologic involvement
GGCCAAGCCCCACCCAGATCTGGATGGACCTTGGGTGGAGGAGCTAGCTGTGACCTCTGCTCTTGGGCAGAACTGGGCTGTCTGGGTCCACACAGCGGGCTGGTCGCTGAGCCCTGGGCCTGCCCTGGGTGAGCAGGGCACTGAGGGCTGAGAAGGGGCAGGGGAAGGGGCACCAGGTCTTCAGCAAACACATGGCAAGAACAGGCCAGGGGGCGGGATGTGAATCTTTTGGTCTCTTGGAGATCCTCCTGCACCTTCTACCACTCTAAGCCTCTAGACCCAATCTCTACCCAACTGTGGCTGGCAAGGGGGAGGGCAGCGGAAGAGAGCCGGGCTCCTCTGACAAAGCCCTAATTTTCTGGAACCCAGATGCTCCTCACTCTTGTTCTCATCTTCTTGCTTCCCCCCAACCTCCTGACCACTCCTCAAAGTGTAGGTGATCCACCACTGTCACCAGGGTCAGGGGAAGTCCTCTGGACAGAGAGTATGGGAGTCCTGGGTTCTGGCCCTGGCTCTGCTACCAACTTCTATGTGACCTTTGTGATTCCTTTGCCTTTCTGGGCCTGTCTCTTGGTCAGTCTAGCGAGAATCAGGTGACTGCTACCGGCTCACATCTCCTGGAGTCCCTGGTCTCTTTCAGAGCTGCTCTGGCACTCCCGGGTGGGAGTGGGGGACTGTCTTGTTCCACACATCCCCAGGAGGCCTGGCTGAACCCCAGACCTGAGTCGAGGGTGGGATAATTGCTCCCTGCGGGGGATGTTTTTCCTAGAGGTGTGGGCTGGTCCCAGGGAACCTGGGACTCTGAGGGCCCCTGGGCAGGAAGGAGGCCAAGGTTTCCTTCTGGCCAGAGTGCTCAGCTCCAGCTCTGGGGCAGTGGGGAAGAGGTTGCTCAACGTTGGGGTGGGGCCCTGGCAGGGAAGATGGCGCCGAACTGGGAGAGGGAGGAAAGAGATCAGCTTGGTGACTCTGGGGCAGGGCAGGAGGGGGAGCCCCTTACTGTGTGTCCTCTCCCTAGGAGGATGAAGAAGCCCCCAACTCAAAGGAGGGTGGCGTCAGAAAGTCCCAGGGAAGAGCCCTAGGATAGGATGAGGTCCCGCAGCAGCAGATTTGTCCCGCAGTTCTTCATCCCTCACTCTTCCAAAGACTCTCATCTGAATTCCGTTTTCTTTAAACCTCCCCTGAGTTCTCCATCTGACTGCCTCAGTTTCCCTGAATCTCCAGCCAACCCTTTGGTTCTTTCCAAGCGTTTCCCTCGTATCCTCCTGACCACAGCAGCTGGTGGCATAGTGTGCGTATCTGTGGGCAGGAGTTAGTGAAGGCCTCCTTCCCTCCCTCCAAAGCCCCAGGCCCCACGGTCTGCCACCCGCAAAATTCCAACCACGAGGGGGCGCCTTCCTGCCCGCCGCCCCGTAGGGAGACCCGGCCTAGGCCGCTGGAGTTCCGAGTTCCAGGGTCCTTGTGATGGAAGGGCGGGCGCGGCCCCCACACCTGGTCTTCCAGCCCTATCCAAGGAGGACTGCCAGACAGTCCCGCTCTGAGGTGCAGGAGGCCGGGCCGCCTCGGCTACCCTGAATCCACCCGAAGCTAGAGGGCCCGAGCCCGGGGGGCGGTCGGGTGCTCACCTCCAGAGCTTGCCCAGCGTCTTGCTGAGCTCAGCGTTGTGCAGGTGCGGGTACTGGTCCGCGAGCTTCCTGCGCGCTGCCTGAGCCCACACCATGAAGGCGTTCATGGGCCGCTTGACGTGCGGCTTGCTTTTGCTGGCGCCGTTGACGCGCACGGGCATGGGCACCAGCGTCCAGTCGTAGCCGCTGAGCACCTGGCTGACGGCCTCGCGGATGCACACGGGGAACTTGTCATCGTCCGCCTCGCCGTCCTGCTGCTCCTTCTTGACCTTGCCCAGCTCGCCTGGCCCCGGGCTGGCTCGCAGGCCCGATCCGCCGCCGCCGCCGTCGGGCCCTAGCGAGGGCGCGCTCCCCGGGGACAGGCAGCGGGGCTCCTCCGAGCCCACGGGGCTCAGCTCCACCTCCGATAGGTCCTGCTCCTCCGCCATGTCGCCCCCGGCCGCCGCCGCCGCCGCCTCGGCCGCCTCCCCCGGGCCAGCCGCCGGGGTCCTCGCAAAGAGTCCAACGCCCACCTGGATGGAAGGAGGGCGCGATGGAGCGGCCGCGCGCGCAGCCCCGAGGGCGGCCCGAGACAGGACGTGGGCACAGCCCCGAGGTGGCGGCCCTTCCTGCTCCAGCTAAACCCATCTGGCCCCTGGGGCCCACGCACATGCCAGACTCTAGGTGGGTGCGTCCCGCCTCTGTGTCTTCCCACCACCTGGTCCCAACCGTCTCTTGGTGTGGGTGGCTTTTTTTTTAGCCTCCTTTTTTGGGTGGAGGTTTGTTGATGATAAGGAAGAAAAAAACGGAGCCTTTATTTTGCTCTAATCCCGGCCCCTGGAATTTCCCACCTTTTCTCTCACCTTTCCTTCTTCCCTCAGCCTGCCCCAACGGGGTTTAGAGGAGAGCCAGGTGGGGGGCAAGGGCGGGGTGTCGCCTCTCTCCACCTCACAGCAGGGTCCCAGGCCTGGGCGGGCCAGGGAGGAGCAGGCTGCGCACTCACCTCCTCGGACCTCTCCTCCAGTCTGGGGCTCGTCCTTAGGAAGTGGAAAACCGTGTCCCAAGGTGTGCGGTCCAGCTCGGGGCTGGGAGGTGACGCTGGTGGGCTGGGAGGGAGGGGCGGGGGGCCCTGAGCCTCAGGCCACGGCCTCGTTAGGACGGAGCCTGAATCCTTACCACCAACCACCCTGGCCGGACAGCCCGAGACTGACTGAGCGACTGAGCCTGAGCCGCTGCGGAGGGCTGGGGAAGGAAGGAGGGGGAGAGGGGGGAGGGGAGAGGAGGGAGGGAAGGGCAGAAGGTGGAGCCTCCAGGCTTTCCTTCATCCCCAACACTCAGGGCTCCTCCACCCGGAGCCCAGGCCCCCCCACCCAGCTCCCTGCCCTACTGCCCAGGCCCATCTTGCTGAGGCTTATCTTGGGCTTAGTCTGGGAGGTGGAGGGGAGGTTAGGCCGAGGAAGGAAGAGATGTAGGCTGGAGGGTCAGAACCTGTTGGATGGAAGAAAATTGGGCCCAACCAGGACTCCTAACGTCTGCCTCAGGTGGCAGGATGGGCACTTGGCAGGGGACTAGGGAGAGACGTGAAGGCGGTGAGGGTCCTGGGGGCCCGTGAGGGTGGCTGGCCCTAGCTGCTTCGTCTGCGAAATCCTGTTGAGTGCCTAGTGTGTGCCAGGCACTGATGCCCAGCTCCTCACCCTGCCTCCTACCTTTTCCCAGGCAGCCCTTTCTGCCCCATCCTGCACAGTAAGAGAGACTTCTCAGGGATCCCTCTGAGAAGTGCAGAGCCCCAGCTTGACCCCTGGTCCCTTCTCTGCAGACACCCAGCACACGCGCGTTCTGGTCTGGTTCAAGGTGGAAACACAAGACTAAAGCTGCCAGGAGGCCAAGGTGGGACAGGTTGGGGGCCCTCTCTCAGTAGGTCTTAGAGGCATTTTGGGTTGCTACCTACTGGGACCCAGCTCCTTCCACACTGGGCTCACCCTGTCTTGGGAGAGGGTAGGGGAGTCCTAGTCCTGATTGTCACGAAGTCCTCTACTCCCCCACCCCAACAAGGGGTGGGGACTTGCCCTGCCTCTTCCCTCCTCTGCCCACCTCTCCCTCCCTCCCCTTTTCTTTCCTGCCCATCCTCCGTTGACACCTTTTTCTCTCTCTTTCCTTGGCCTCTCCTCCAAAGGTCGCAGTGCTGTTCTCTTAACTGAGGGCAGCCCCGCCGGGGTGTTGAGGCCGAGGTGGGGTGTATGTGGGTTATGTAATGGAGCTGGGGTCGCATTGGCAACCATGTGACGTTCTGAGCTCCTCAACAGCAGGGCAAAGCCCCAAGACCACCCCAAGGGGTCCTGTCTGGAGTGGGCTGCAAAGGGTCTGGGGAGGCAAGGCCTCATGCTTGGGAAAGTCCAAAGGGGTGTAGGGGGTGGGAAATGGGACACAATGAGGTAGTCACACGAGGCAGAGGCATGTTGGGGGTGGGGGGAGCAGACACTGGAACACACACACAC
GGCCAAGCCCCACCCAGATCTGGATGGACCTTGGGTGGAGGAGCTAGCTGTGACCTCTGCTCTTGGGCAGAACTGGGCTGTCTGGGTCCACACAGCGGGCTGGTCGCTGAGCCCTGGGCCTGCCCTGGGTGAGCAGGGCACTGAGGGCTGAGAAGGGGCAGGGGAAGGGGCACCAGGTCTTCAGCAAACACATGGCAAGAACAGGCCAGGGGGCGGGATGTGAATCTTTTGGTCTCTTGGAGATCCTCCTGCACCTTCTACCACTCTAAGCCTCTAGACCCAATCTCTACCCAACTGTGGCTGGCAAGGGGGAGGGCAGCGGAAGAGAGCCGGGCTCCTCTGACAAAGCCCTAATTTTCTGGAACCCAGATGCTCCTCACTCTTGTTCTCATCTTCTTGCTTCCCCCCAACCTCCTGACCACTCCTCAAAGTGTAGGTGATCCACCACTGTCACCAGGGTCAGGGGAAGTCCTCTGGACAGAGAGTATGGGAGTCCTGGGTTCTGGCCCTGGCTCTGCTACCAACTTCTATGTGACCTTTGTGATTCCTTTGCCTTTCTGGGCCTGTCTCTTGGTCAGTCTAGCGAGAATCAGGTGACTGCTACCGGCTCACATCTCCTGGAGTCCCTGGTCTCTTTCAGAGCTGCTCTGGCACTCCCGGGTGGGAGTGGGGGACTGTCTTGTTCCACACATCCCCAGGAGGCCTGGCTGAACCCCAGACCTGAGTCGAGGGTGGGATAATTGCTCCCTGCGGGGGATGTTTTTCCTAGAGGTGTGGGCTGGTCCCAGGGAACCTGGGACTCTGAGGGCCCCTGGGCAGGAAGGAGGCCAAGGTTTCCTTCTGGCCAGAGTGCTCAGCTCCAGCTCTGGGGCAGTGGGGAAGAGGTTGCTCAACGTTGGGGTGGGGCCCTGGCAGGGAAGATGGCGCCGAACTGGGAGAGGGAGGAAAGAGATCAGCTTGGTGACTCTGGGGCAGGGCAGGAGGGGGAGCCCCTTACTGTGTGTCCTCTCCCTAGGAGGATGAAGAAGCCCCCAACTCAAAGGAGGGTGGCGTCAGAAAGTCCCAGGGAAGAGCCCTAGGATAGGATGAGGTCCCGCAGCAGCAGATTTGTCCCGCAGTTCTTCATCCCTCACTCTTCCAAAGACTCTCATCTGAATTCCGTTTTCTTTAAACCTCCCCTGAGTTCTCCATCTGACTGCCTCAGTTTCCCTGAATCTCCAGCCAACCCTTTGGTTCTTTCCAAGCGTTTCCCTCGTATCCTCCTGACCACAGCAGCTGGTGGCATAGTGTGCGTATCTGTGGGCAGGAGTTAGTGAAGGCCTCCTTCCCTCCCTCCAAAGCCCCAGGCCCCACGGTCTGCCACCCGCAAAATTCCAACCACGAGGGGGCGCCTTCCTGCCCGCCGCCCCGTAGGGAGACCCGGCCTAGGCCGCTGGAGTTCCGAGTTCCAGGGTCCTTGTGATGGAAGGGCGGGCGCGGCCCCCACACCTGGTCTTCCAGCCCTATCCAAGGAGGACTGCCAGACAGTCCCGCTCTGAGGTGCAGGAGGCCGGGCCGCCTCGGCTACCCTGAATCCACCCGAAGCTAGAGGGCCCGAGCCCGGGGGGCGGTCGGGTGCTCACCTCCAGAGCTTGCCCAGCGTCTTGCTGAGCTCAGCGTTGTGCAGGTGCGGGTACTGGTCCGCGAGCTTCCTGCGCGCTGCCTGAGCCCACACCATGAAGGCGTTCATGGGCCGCTTGACGTGCGGCTTGCTTTTGCTGGCGCCGTTGACGCGCACGGGCATGGGCACCAGCGTCCAGTCGTAGCCGCTGAGCACCTGGCTGACGGCCTCGCGGATGCACACGGGGAACTTGTCATCGTCCGCCTCGCCGTCCTGCTGCTCCTTCTTGACCTTGCCCAGCTCGCCTGGCCCCGGGCTGGCTCGCAGGCCCGATCCGCCGCCGCCGCCGTCGGGCCCTAGCGAGGGCGCGCTCCCCGGGGACAGGCAGCGGGGCTCCTCCGAGCCCACGGGGCTCAGCTCCACCTCCGATAGGTCCTGCTCCTCCGCCCTGTCGCCCCCGGCCGCCGCCGCCGCCGCCTCGGCCGCCTCCCCCGGGCCAGCCGCCGGGGTCCTCGCAAAGAGTCCAACGCCCACCTGGATGGAAGGAGGGCGCGATGGAGCGGCCGCGCGCGCAGCCCCGAGGGCGGCCCGAGACAGGACGTGGGCACAGCCCCGAGGTGGCGGCCCTTCCTGCTCCAGCTAAACCCATCTGGCCCCTGGGGCCCACGCACATGCCAGACTCTAGGTGGGTGCGTCCCGCCTCTGTGTCTTCCCACCACCTGGTCCCAACCGTCTCTTGGTGTGGGTGGCTTTTTTTTTAGCCTCCTTTTTTGGGTGGAGGTTTGTTGATGATAAGGAAGAAAAAAACGGAGCCTTTATTTTGCTCTAATCCCGGCCCCTGGAATTTCCCACCTTTTCTCTCACCTTTCCTTCTTCCCTCAGCCTGCCCCAACGGGGTTTAGAGGAGAGCCAGGTGGGGGGCAAGGGCGGGGTGTCGCCTCTCTCCACCTCACAGCAGGGTCCCAGGCCTGGGCGGGCCAGGGAGGAGCAGGCTGCGCACTCACCTCCTCGGACCTCTCCTCCAGTCTGGGGCTCGTCCTTAGGAAGTGGAAAACCGTGTCCCAAGGTGTGCGGTCCAGCTCGGGGCTGGGAGGTGACGCTGGTGGGCTGGGAGGGAGGGGCGGGGGGCCCTGAGCCTCAGGCCACGGCCTCGTTAGGACGGAGCCTGAATCCTTACCACCAACCACCCTGGCCGGACAGCCCGAGACTGACTGAGCGACTGAGCCTGAGCCGCTGCGGAGGGCTGGGGAAGGAAGGAGGGGGAGAGGGGGGAGGGGAGAGGAGGGAGGGAAGGGCAGAAGGTGGAGCCTCCAGGCTTTCCTTCATCCCCAACACTCAGGGCTCCTCCACCCGGAGCCCAGGCCCCCCCACCCAGCTCCCTGCCCTACTGCCCAGGCCCATCTTGCTGAGGCTTATCTTGGGCTTAGTCTGGGAGGTGGAGGGGAGGTTAGGCCGAGGAAGGAAGAGATGTAGGCTGGAGGGTCAGAACCTGTTGGATGGAAGAAAATTGGGCCCAACCAGGACTCCTAACGTCTGCCTCAGGTGGCAGGATGGGCACTTGGCAGGGGACTAGGGAGAGACGTGAAGGCGGTGAGGGTCCTGGGGGCCCGTGAGGGTGGCTGGCCCTAGCTGCTTCGTCTGCGAAATCCTGTTGAGTGCCTAGTGTGTGCCAGGCACTGATGCCCAGCTCCTCACCCTGCCTCCTACCTTTTCCCAGGCAGCCCTTTCTGCCCCATCCTGCACAGTAAGAGAGACTTCTCAGGGATCCCTCTGAGAAGTGCAGAGCCCCAGCTTGACCCCTGGTCCCTTCTCTGCAGACACCCAGCACACGCGCGTTCTGGTCTGGTTCAAGGTGGAAACACAAGACTAAAGCTGCCAGGAGGCCAAGGTGGGACAGGTTGGGGGCCCTCTCTCAGTAGGTCTTAGAGGCATTTTGGGTTGCTACCTACTGGGACCCAGCTCCTTCCACACTGGGCTCACCCTGTCTTGGGAGAGGGTAGGGGAGTCCTAGTCCTGATTGTCACGAAGTCCTCTACTCCCCCACCCCAACAAGGGGTGGGGACTTGCCCTGCCTCTTCCCTCCTCTGCCCACCTCTCCCTCCCTCCCCTTTTCTTTCCTGCCCATCCTCCGTTGACACCTTTTTCTCTCTCTTTCCTTGGCCTCTCCTCCAAAGGTCGCAGTGCTGTTCTCTTAACTGAGGGCAGCCCCGCCGGGGTGTTGAGGCCGAGGTGGGGTGTATGTGGGTTATGTAATGGAGCTGGGGTCGCATTGGCAACCATGTGACGTTCTGAGCTCCTCAACAGCAGGGCAAAGCCCCAAGACCACCCCAAGGGGTCCTGTCTGGAGTGGGCTGCAAAGGGTCTGGGGAGGCAAGGCCTCATGCTTGGGAAAGTCCAAAGGGGTGTAGGGGGTGGGAAATGGGACACAATGAGGTAGTCACACGAGGCAGAGGCATGTTGGGGGTGGGGGGAGCAGACACTGGAACACACACACAC
Task1_train_28794
A change on Chromosome 22 affects gene PLA2G6 (phospholipase A2 group VI). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Infantile neuroaxonal dystrophy
GTAGAACTGGTCCATCTCGGGGGCCATGGAGGGGCTGTCCCGGGTCTGAGCAGGAGGCTGGGAGCTGGTGGCGATGGCACAGCCGGGAGCAGTGGTAGGTAGTCCCTCAGGTGCCCACGACTCAGCTGGCAGCGAGGAAGCCTCGGAGAGGGACCTGGAGATGGAGGCCTGCCTCAGAGGAGTGGCAGCTTAATTATTCACCAACTCGGGATGTCAGAATGTGATCTGGGGCGTAACCAGATCCGGCAGGGAAGGCATCCTGTGCCGGGCAGGCTCGTGTGACCTGCCCTTCAATTATTCACCCCTTGGAGCTGTGGGCTGATACAAGTGCCCATGTGGATGAGCCCCCTCCTGGGTCACCCCCTCCTCAAGGACCCCAACCCTGGGGGGCCCCGCCCTCCCACCTGCCTATACCAGGCATTGCCCACCTTACTGGGCGGGCGCTGCCCGATGCCCTCCCCCAGGACTCTCTCTGCCAGACCCAGCAGCAGCAGCCCCTGGAGGGGAACGCCGCTTTACTTCTCACTGTCCTCAGGCCTGCGGCTCACAGTGGGGCCACGCCCTCTGAGCTTGGCTCCCACAGCCGCTCTGGCCCGCCCAGCTCCTCCACTTGCCGGAGCAGGAGCAGCACAAACGCTGGAGTTGCCCAGCCCTGGGCAGACCTCGGCCCTGCACACGCGCTGCCTGTCCACGCGGAGTCCCCGGCCTCTCTGGGTGACAAATGGGGCTCTCCCTGGTCCTCCAAGATGAAGTTGAAGATTGTGGCCCTCCTTGGGCCTGCCGGGGGTATGTGGGCCTGGCAGCTGCCTCTGCATACCCTAAGGGCCGGTTTAGGGGAGGCCTAGAGGAAAGAGGAGGTGTCCCTGCCCAGGGATCCTGGAAAACAGAGTGTCCGGGTACAAAGGAAAAGTCCGGTCAAGGCCAAGGGTCAAGGCCGAGGGGAGCCGGGGGTCAGGGGAACAGGTGGATCTCACACCACTGCACACACAACACAGGTGAACTTGAATCCAAATGATTTATTTCAGTTTTGGCTCTTAAGCCACTTCCATTGGGAAGAAGAAACTCCCAGGAGTGACCTTTGAGAGCTGAGGGTTCTCGGGGTGGGGCAGTGTGAGGGGCTGGGCCAGTGTGAGGGGCAAAGTCCAACGGGCATCCCACTCCTGCGGCCTGGGCTTTCCCAGCTGATGGGGTGGGGGACACCCATTTCTTTAGTCCCAGCCCCCAGGGAACGGAGCAGAGGGCAGAGGGAGTGGGCTGCACCCACCAGGAAGCCTGGGAGTGCCCTTGCTGGGGGCTGGGGCAGAGGCAGCCCGGCAGGCCCTCAGGGAGGCTGGGGCTGGGGGCAGGGGTACGGTTGTGCCCGGGTACCCTTAATGTTTGAGCTGATGGGGGAGTCAGTTGTCCTTGACAGTCAGGGAAAGGGGCCAAAGGGGGCTCTAGACTTTCCCAGCCTGGAATGACAGAAAGTGCTGGAAGGCGGGGTTAGTGGGAGACAGGCCTTCAGGACCAGCCTCGGGCAGGCAGCTTGGCATTCTCCCAGGCCTGGTCTATGGACTCAGAGGTGCCTGGGCCCAGATCTGCCCGGGAGGGCAGTGGCTGGGCTTGGCCTGGCAGGGGCTGAATGGACGAGGTCAGCTGGGGCCGGTGAGAGGCTGGGGACCCTCAGGGTGAGAGCAGCAGCTGGATGAGCTTCTGGAACTCCTCGCGGTGCTCATAGATGTAGACCTCGGTCTCCCAGAGGGCGTTGACCAGCACTGTGTCACTGACCTCATCCAGCATGATGTCCGTCCCCAGCTGGGGGTTCAATCTGTTCGGGCCAGGGAGGAGGGGGTCACCCTAGGATGCTCAGGCTGGGCAGGGGACGCCAGCTAGGACCAGGGTGGGCTTGGGGAACAGAGCAGACCCTTGGGGAAGGGAAAGTCCACACTAGGGCTGGGAGGGGAAGGTCGGTGAGTCCGACCACGCCAGGGCACGGGGCCAAGGGCTGGGGCGGCTGAGCCCTCACCTGAAGTACTGGATGCCGACCATCTCGCACCAGGCCCGTGCCCGGTCCACAGCCCGCCCGTCTGGATCCGTGCACTGGTGAGAAGCAGCCTTGGTGAGTGCCGGGCCCACACCCCGCCCGGCCCGCACCCCGCCCGGCCCTGCCCTGCACTCTCGGAGCCCCAGCCTGGGGAGCCCCAGGCTCTTTCGAGTCAGGCTGAGCCACACAGCAGCAGAGCGGCTCGGGCAAAACCCCTTCCTGGGACTGCAGGGACTGTCCCAGCTGTGCAATCAGAGGGGCAGAGGTCTCAGCAGTGCCCTTTCAGGGATGATGAGTGGGGGAAAGGGTAGCGGCTGAGTCGACAGGCCTCCATGTCCCCTCTCCCTGAAGTTTCCCTCCCTCCCTCCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTTTGAGACAAGGTCTCCTTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCACAGCTCACTGCAGCCTCTGCCTCTTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACCACAGGCACACACCACCATGTCCAGCTAGTTTTTAATTTTTTGGTAGAGACAAAGTCTCATTATATTGCTCAGGCTGGTCTCAAACTGCTGTGCTCAAGTGGTCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCGCCCAGCCCGCTCTGGAGCCTTTGTCCATTCTGGGCTTCTACACTGCGCTATGTTTGCAGAAAGGGATCCGCAGCTAAAAAGCGTTTGAAAACCCCCCTGCTGGTGGTCACTGAGGGTCCCTGCCCCGCACTGAGACTCTGAACTGTGGACTCTCTCTCCCTCCAGCTGGCTAAAGGCGATGGACAGAGCCCTGCTGTCTCCTCCAACACCAAAGGCCCCACAGGATGAGGGGAAGCCATCGACCTGGGCTACAGACCCTGAGGGAAGTGGCCTGGGGGAGGGGCCCACACTCACACAGTCCACCACCATCTTGCCCAGTTCCTTGGCCCCAAAAACAGTCTTGGCCAGCTCCCAGGGGTTGCTGGGACGGAAGACATCCACACAGGTCACAGGCACTTGTGGGGACCTCCCTGTCCCCAGGGAGACAACGATGGAGAGTTTCTTCACCTTGTTGGCCTGACCCTGTTGGGAACAGGACAGGGGCAGTCAGAAGAGACCTTCCACAGGTAGGGGGCACGAAGGGGAGCGTCAAGGGGAGGCCCAAGACTGGGCTCTGGGGCACATGAGAACAGGGCAAGAGGTCTCTGGTGGCAAGAGCATGCCTGGCATGATTTCCAGCCAGCCTCTTGCACGTGACCCCAGAACGGCTGGTGCGGGCATCACATGCCATCTGCTCAGGACAGCATCTGTGTACCAACAGGACCACACATACACCAGCTGCAAGAAGGATCCCGCCCACCCCATCTGATGCTGGCCCAAGTCAAGTCGTGGCCAGGGGAGGAAAGGCAGACGGTGTTCCTTGGTGTTGGTGATTTGCCAGGTATTTGCATCATTACTTCATTTAATCTCCAGCCAGTCTGTGGAGAGGGCACTGATCACCCAGTTTGCAAATGAGGGCTCTCAGCGAAGCTCAGGCCGGGAAGCAGCTGCAGGGGCCACGTGGTAGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGCTGCCTCTCTTATTTGCTTCCGAACAAGCTCTGCTGCCGATTTGCTGGATGATCTTGGGTGATGCCTCCCACTCTGGGTCCCAGGCTCCCCATCCGCACGCAATAGGAG
GTAGAACTGGTCCATCTCGGGGGCCATGGAGGGGCTGTCCCGGGTCTGAGCAGGAGGCTGGGAGCTGGTGGCGATGGCACAGCCGGGAGCAGTGGTAGGTAGTCCCTCAGGTGCCCACGACTCAGCTGGCAGCGAGGAAGCCTCGGAGAGGGACCTGGAGATGGAGGCCTGCCTCAGAGGAGTGGCAGCTTAATTATTCACCAACTCGGGATGTCAGAATGTGATCTGGGGCGTAACCAGATCCGGCAGGGAAGGCATCCTGTGCCGGGCAGGCTCGTGTGACCTGCCCTTCAATTATTCACCCCTTGGAGCTGTGGGCTGATACAAGTGCCCATGTGGATGAGCCCCCTCCTGGGTCACCCCCTCCTCAAGGACCCCAACCCTGGGGGGCCCCGCCCTCCCACCTGCCTATACCAGGCATTGCCCACCTTACTGGGCGGGCGCTGCCCGATGCCCTCCCCCAGGACTCTCTCTGCCAGACCCAGCAGCAGCAGCCCCTGGAGGGGAACGCCGCTTTACTTCTCACTGTCCTCAGGCCTGCGGCTCACAGTGGGGCCACGCCCTCTGAGCTTGGCTCCCACAGCCGCTCTGGCCCGCCCAGCTCCTCCACTTGCCGGAGCAGGAGCAGCACAAACGCTGGAGTTGCCCAGCCCTGGGCAGACCTCGGCCCTGCACACGCGCTGCCTGTCCACGCGGAGTCCCCGGCCTCTCTGGGTGACAAATGGGGCTCTCCCTGGTCCTCCAAGATGAAGTTGAAGATTGTGGCCCTCCTTGGGCCTGCCGGGGGTATGTGGGCCTGGCAGCTGCCTCTGCATACCCTAAGGGCCGGTTTAGGGGAGGCCTAGAGGAAAGAGGAGGTGTCCCTGCCCAGGGATCCTGGAAAACAGAGTGTCCGGGTACAAAGGAAAAGTCCGGTCAAGGCCAAGGGTCAAGGCCGAGGGGAGCCGGGGGTCAGGGGAACAGGTGGATCTCACACCACTGCACACACAACACAGGTGAACTTGAATCCAAATGATTTATTTCAGTTTTGGCTCTTAAGCCACTTCCATTGGGAAGAAGAAACTCCCAGGAGTGACCTTTGAGAGCTGAGGGTTCTCGGGGTGGGGCAGTGTGAGGGGCTGGGCCAGTGTGAGGGGCAAAGTCCAACGGGCATCCCACTCCTGCGGCCTGGGCTTTCCCAGCTGATGGGGTGGGGGACACCCATTTCTTTAGTCCCAGCCCCCAGGGAACGGAGCAGAGGGCAGAGGGAGTGGGCTGCACCCACCAGGAAGCCTGGGAGTGCCCTTGCTGGGGGCTGGGGCAGAGGCAGCCCGGCAGGCCCTCAGGGAGGCTGGGGCTGGGGGCAGGGGTACGGTTGTGCCCGGGTACCCTTAATGTTTGAGCTGATGGGGGAGTCAGTTGTCCTTGACAGTCAGGGAAAGGGGCCAAAGGGGGCTCTAGACTTTCCCAGCCTGGAATGACAGAAAGTGCTGGAAGGCGGGGTTAGTGGGAGACAGGCCTTCAGGACCAGCCTCGGGCAGGCAGCTTGGCATTCTCCCAGGCCTGGTCTATGGACTCAGAGGTGCCTGGGCCCAGATCTGCCCGGGAGGGCAGTGGCTGGGCTTGGCCTGGCAGGGGCTGAATGGACGAGGTCAGCTGGGGCCGGTGAGAGGCTGGGGACCCTCAGGGTGAGAGCAGCAGCTGGATGAGCTTCTGGAACTCCTCGCGGTGCTCATAGATGTAGACCTCGGTCTCCCAGAGGGCGTTGACCAGCACTGTGTCACTGACCTCATCCAGCATGATGTCCGTCCCCAGCTGGGGGTTCAATCTGTTCGGGCCAGGGAGGAGGGGGTCACCCTAGGATGCTCAGGCTGGGCAGGGGACGCCAGCTAGGACCAGGGTGGGCTTGGGGAACAGAGCAGACCCTTGGGGAAGGGAAAGTCCACACTAGGGCTGGGAGGGGAAGGTCGGTGAGTCCGACCACGCCAGGGCACGGGGCCAAGGGCTGGGGCGGCTGAGCCCTCACCTGAAGTACTGGATGCCGACCATCTCGCACCAGGCCCGTGCCCAGTCCACAGCCCGCCCGTCTGGATCCGTGCACTGGTGAGAAGCAGCCTTGGTGAGTGCCGGGCCCACACCCCGCCCGGCCCGCACCCCGCCCGGCCCTGCCCTGCACTCTCGGAGCCCCAGCCTGGGGAGCCCCAGGCTCTTTCGAGTCAGGCTGAGCCACACAGCAGCAGAGCGGCTCGGGCAAAACCCCTTCCTGGGACTGCAGGGACTGTCCCAGCTGTGCAATCAGAGGGGCAGAGGTCTCAGCAGTGCCCTTTCAGGGATGATGAGTGGGGGAAAGGGTAGCGGCTGAGTCGACAGGCCTCCATGTCCCCTCTCCCTGAAGTTTCCCTCCCTCCCTCCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTTTGAGACAAGGTCTCCTTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCACAGCTCACTGCAGCCTCTGCCTCTTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACCACAGGCACACACCACCATGTCCAGCTAGTTTTTAATTTTTTGGTAGAGACAAAGTCTCATTATATTGCTCAGGCTGGTCTCAAACTGCTGTGCTCAAGTGGTCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCGCCCAGCCCGCTCTGGAGCCTTTGTCCATTCTGGGCTTCTACACTGCGCTATGTTTGCAGAAAGGGATCCGCAGCTAAAAAGCGTTTGAAAACCCCCCTGCTGGTGGTCACTGAGGGTCCCTGCCCCGCACTGAGACTCTGAACTGTGGACTCTCTCTCCCTCCAGCTGGCTAAAGGCGATGGACAGAGCCCTGCTGTCTCCTCCAACACCAAAGGCCCCACAGGATGAGGGGAAGCCATCGACCTGGGCTACAGACCCTGAGGGAAGTGGCCTGGGGGAGGGGCCCACACTCACACAGTCCACCACCATCTTGCCCAGTTCCTTGGCCCCAAAAACAGTCTTGGCCAGCTCCCAGGGGTTGCTGGGACGGAAGACATCCACACAGGTCACAGGCACTTGTGGGGACCTCCCTGTCCCCAGGGAGACAACGATGGAGAGTTTCTTCACCTTGTTGGCCTGACCCTGTTGGGAACAGGACAGGGGCAGTCAGAAGAGACCTTCCACAGGTAGGGGGCACGAAGGGGAGCGTCAAGGGGAGGCCCAAGACTGGGCTCTGGGGCACATGAGAACAGGGCAAGAGGTCTCTGGTGGCAAGAGCATGCCTGGCATGATTTCCAGCCAGCCTCTTGCACGTGACCCCAGAACGGCTGGTGCGGGCATCACATGCCATCTGCTCAGGACAGCATCTGTGTACCAACAGGACCACACATACACCAGCTGCAAGAAGGATCCCGCCCACCCCATCTGATGCTGGCCCAAGTCAAGTCGTGGCCAGGGGAGGAAAGGCAGACGGTGTTCCTTGGTGTTGGTGATTTGCCAGGTATTTGCATCATTACTTCATTTAATCTCCAGCCAGTCTGTGGAGAGGGCACTGATCACCCAGTTTGCAAATGAGGGCTCTCAGCGAAGCTCAGGCCGGGAAGCAGCTGCAGGGGCCACGTGGTAGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGCTGCCTCTCTTATTTGCTTCCGAACAAGCTCTGCTGCCGATTTGCTGGATGATCTTGGGTGATGCCTCCCACTCTGGGTCCCAGGCTCCCCATCCGCACGCAATAGGAG
Task1_train_28795
The gene PLA2G6 (phospholipase A2 group VI) on Chromosome 22 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Infantile neuroaxonal dystrophy
GTAGAACTGGTCCATCTCGGGGGCCATGGAGGGGCTGTCCCGGGTCTGAGCAGGAGGCTGGGAGCTGGTGGCGATGGCACAGCCGGGAGCAGTGGTAGGTAGTCCCTCAGGTGCCCACGACTCAGCTGGCAGCGAGGAAGCCTCGGAGAGGGACCTGGAGATGGAGGCCTGCCTCAGAGGAGTGGCAGCTTAATTATTCACCAACTCGGGATGTCAGAATGTGATCTGGGGCGTAACCAGATCCGGCAGGGAAGGCATCCTGTGCCGGGCAGGCTCGTGTGACCTGCCCTTCAATTATTCACCCCTTGGAGCTGTGGGCTGATACAAGTGCCCATGTGGATGAGCCCCCTCCTGGGTCACCCCCTCCTCAAGGACCCCAACCCTGGGGGGCCCCGCCCTCCCACCTGCCTATACCAGGCATTGCCCACCTTACTGGGCGGGCGCTGCCCGATGCCCTCCCCCAGGACTCTCTCTGCCAGACCCAGCAGCAGCAGCCCCTGGAGGGGAACGCCGCTTTACTTCTCACTGTCCTCAGGCCTGCGGCTCACAGTGGGGCCACGCCCTCTGAGCTTGGCTCCCACAGCCGCTCTGGCCCGCCCAGCTCCTCCACTTGCCGGAGCAGGAGCAGCACAAACGCTGGAGTTGCCCAGCCCTGGGCAGACCTCGGCCCTGCACACGCGCTGCCTGTCCACGCGGAGTCCCCGGCCTCTCTGGGTGACAAATGGGGCTCTCCCTGGTCCTCCAAGATGAAGTTGAAGATTGTGGCCCTCCTTGGGCCTGCCGGGGGTATGTGGGCCTGGCAGCTGCCTCTGCATACCCTAAGGGCCGGTTTAGGGGAGGCCTAGAGGAAAGAGGAGGTGTCCCTGCCCAGGGATCCTGGAAAACAGAGTGTCCGGGTACAAAGGAAAAGTCCGGTCAAGGCCAAGGGTCAAGGCCGAGGGGAGCCGGGGGTCAGGGGAACAGGTGGATCTCACACCACTGCACACACAACACAGGTGAACTTGAATCCAAATGATTTATTTCAGTTTTGGCTCTTAAGCCACTTCCATTGGGAAGAAGAAACTCCCAGGAGTGACCTTTGAGAGCTGAGGGTTCTCGGGGTGGGGCAGTGTGAGGGGCTGGGCCAGTGTGAGGGGCAAAGTCCAACGGGCATCCCACTCCTGCGGCCTGGGCTTTCCCAGCTGATGGGGTGGGGGACACCCATTTCTTTAGTCCCAGCCCCCAGGGAACGGAGCAGAGGGCAGAGGGAGTGGGCTGCACCCACCAGGAAGCCTGGGAGTGCCCTTGCTGGGGGCTGGGGCAGAGGCAGCCCGGCAGGCCCTCAGGGAGGCTGGGGCTGGGGGCAGGGGTACGGTTGTGCCCGGGTACCCTTAATGTTTGAGCTGATGGGGGAGTCAGTTGTCCTTGACAGTCAGGGAAAGGGGCCAAAGGGGGCTCTAGACTTTCCCAGCCTGGAATGACAGAAAGTGCTGGAAGGCGGGGTTAGTGGGAGACAGGCCTTCAGGACCAGCCTCGGGCAGGCAGCTTGGCATTCTCCCAGGCCTGGTCTATGGACTCAGAGGTGCCTGGGCCCAGATCTGCCCGGGAGGGCAGTGGCTGGGCTTGGCCTGGCAGGGGCTGAATGGACGAGGTCAGCTGGGGCCGGTGAGAGGCTGGGGACCCTCAGGGTGAGAGCAGCAGCTGGATGAGCTTCTGGAACTCCTCGCGGTGCTCATAGATGTAGACCTCGGTCTCCCAGAGGGCGTTGACCAGCACTGTGTCACTGACCTCATCCAGCATGATGTCCGTCCCCAGCTGGGGGTTCAATCTGTTCGGGCCAGGGAGGAGGGGGTCACCCTAGGATGCTCAGGCTGGGCAGGGGACGCCAGCTAGGACCAGGGTGGGCTTGGGGAACAGAGCAGACCCTTGGGGAAGGGAAAGTCCACACTAGGGCTGGGAGGGGAAGGTCGGTGAGTCCGACCACGCCAGGGCACGGGGCCAAGGGCTGGGGCGGCTGAGCCCTCACCTGAAGTACTGGATGCCGACCATCTCGCACCAGGCCCGTGCCCGGTCCACAGCCCGCCCGTCTGGATCCGTGCACTGGTGAGAAGCAGCCTTGGTGAGTGCCGGGCCCACACCCCGCCCGGCCCGCACCCCGCCCGGCCCTGCCCTGCACTCTCGGAGCCCCAGCCTGGGGAGCCCCAGGCTCTTTCGAGTCAGGCTGAGCCACACAGCAGCAGAGCGGCTCGGGCAAAACCCCTTCCTGGGACTGCAGGGACTGTCCCAGCTGTGCAATCAGAGGGGCAGAGGTCTCAGCAGTGCCCTTTCAGGGATGATGAGTGGGGGAAAGGGTAGCGGCTGAGTCGACAGGCCTCCATGTCCCCTCTCCCTGAAGTTTCCCTCCCTCCCTCCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTTTGAGACAAGGTCTCCTTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCACAGCTCACTGCAGCCTCTGCCTCTTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACCACAGGCACACACCACCATGTCCAGCTAGTTTTTAATTTTTTGGTAGAGACAAAGTCTCATTATATTGCTCAGGCTGGTCTCAAACTGCTGTGCTCAAGTGGTCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCGCCCAGCCCGCTCTGGAGCCTTTGTCCATTCTGGGCTTCTACACTGCGCTATGTTTGCAGAAAGGGATCCGCAGCTAAAAAGCGTTTGAAAACCCCCCTGCTGGTGGTCACTGAGGGTCCCTGCCCCGCACTGAGACTCTGAACTGTGGACTCTCTCTCCCTCCAGCTGGCTAAAGGCGATGGACAGAGCCCTGCTGTCTCCTCCAACACCAAAGGCCCCACAGGATGAGGGGAAGCCATCGACCTGGGCTACAGACCCTGAGGGAAGTGGCCTGGGGGAGGGGCCCACACTCACACAGTCCACCACCATCTTGCCCAGTTCCTTGGCCCCAAAAACAGTCTTGGCCAGCTCCCAGGGGTTGCTGGGACGGAAGACATCCACACAGGTCACAGGCACTTGTGGGGACCTCCCTGTCCCCAGGGAGACAACGATGGAGAGTTTCTTCACCTTGTTGGCCTGACCCTGTTGGGAACAGGACAGGGGCAGTCAGAAGAGACCTTCCACAGGTAGGGGGCACGAAGGGGAGCGTCAAGGGGAGGCCCAAGACTGGGCTCTGGGGCACATGAGAACAGGGCAAGAGGTCTCTGGTGGCAAGAGCATGCCTGGCATGATTTCCAGCCAGCCTCTTGCACGTGACCCCAGAACGGCTGGTGCGGGCATCACATGCCATCTGCTCAGGACAGCATCTGTGTACCAACAGGACCACACATACACCAGCTGCAAGAAGGATCCCGCCCACCCCATCTGATGCTGGCCCAAGTCAAGTCGTGGCCAGGGGAGGAAAGGCAGACGGTGTTCCTTGGTGTTGGTGATTTGCCAGGTATTTGCATCATTACTTCATTTAATCTCCAGCCAGTCTGTGGAGAGGGCACTGATCACCCAGTTTGCAAATGAGGGCTCTCAGCGAAGCTCAGGCCGGGAAGCAGCTGCAGGGGCCACGTGGTAGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGCTGCCTCTCTTATTTGCTTCCGAACAAGCTCTGCTGCCGATTTGCTGGATGATCTTGGGTGATGCCTCCCACTCTGGGTCCCAGGCTCCCCATCCGCACGCAATAGGAG
GTAGAACTGGTCCATCTCGGGGGCCATGGAGGGGCTGTCCCGGGTCTGAGCAGGAGGCTGGGAGCTGGTGGCGATGGCACAGCCGGGAGCAGTGGTAGGTAGTCCCTCAGGTGCCCACGACTCAGCTGGCAGCGAGGAAGCCTCGGAGAGGGACCTGGAGATGGAGGCCTGCCTCAGAGGAGTGGCAGCTTAATTATTCACCAACTCGGGATGTCAGAATGTGATCTGGGGCGTAACCAGATCCGGCAGGGAAGGCATCCTGTGCCGGGCAGGCTCGTGTGACCTGCCCTTCAATTATTCACCCCTTGGAGCTGTGGGCTGATACAAGTGCCCATGTGGATGAGCCCCCTCCTGGGTCACCCCCTCCTCAAGGACCCCAACCCTGGGGGGCCCCGCCCTCCCACCTGCCTATACCAGGCATTGCCCACCTTACTGGGCGGGCGCTGCCCGATGCCCTCCCCCAGGACTCTCTCTGCCAGACCCAGCAGCAGCAGCCCCTGGAGGGGAACGCCGCTTTACTTCTCACTGTCCTCAGGCCTGCGGCTCACAGTGGGGCCACGCCCTCTGAGCTTGGCTCCCACAGCCGCTCTGGCCCGCCCAGCTCCTCCACTTGCCGGAGCAGGAGCAGCACAAACGCTGGAGTTGCCCAGCCCTGGGCAGACCTCGGCCCTGCACACGCGCTGCCTGTCCACGCGGAGTCCCCGGCCTCTCTGGGTGACAAATGGGGCTCTCCCTGGTCCTCCAAGATGAAGTTGAAGATTGTGGCCCTCCTTGGGCCTGCCGGGGGTATGTGGGCCTGGCAGCTGCCTCTGCATACCCTAAGGGCCGGTTTAGGGGAGGCCTAGAGGAAAGAGGAGGTGTCCCTGCCCAGGGATCCTGGAAAACAGAGTGTCCGGGTACAAAGGAAAAGTCCGGTCAAGGCCAAGGGTCAAGGCCGAGGGGAGCCGGGGGTCAGGGGAACAGGTGGATCTCACACCACTGCACACACAACACAGGTGAACTTGAATCCAAATGATTTATTTCAGTTTTGGCTCTTAAGCCACTTCCATTGGGAAGAAGAAACTCCCAGGAGTGACCTTTGAGAGCTGAGGGTTCTCGGGGTGGGGCAGTGTGAGGGGCTGGGCCAGTGTGAGGGGCAAAGTCCAACGGGCATCCCACTCCTGCGGCCTGGGCTTTCCCAGCTGATGGGGTGGGGGACACCCATTTCTTTAGTCCCAGCCCCCAGGGAACGGAGCAGAGGGCAGAGGGAGTGGGCTGCACCCACCAGGAAGCCTGGGAGTGCCCTTGCTGGGGGCTGGGGCAGAGGCAGCCCGGCAGGCCCTCAGGGAGGCTGGGGCTGGGGGCAGGGGTACGGTTGTGCCCGGGTACCCTTAATGTTTGAGCTGATGGGGGAGTCAGTTGTCCTTGACAGTCAGGGAAAGGGGCCAAAGGGGGCTCTAGACTTTCCCAGCCTGGAATGACAGAAAGTGCTGGAAGGCGGGGTTAGTGGGAGACAGGCCTTCAGGACCAGCCTCGGGCAGGCAGCTTGGCATTCTCCCAGGCCTGGTCTATGGACTCAGAGGTGCCTGGGCCCAGATCTGCCCGGGAGGGCAGTGGCTGGGCTTGGCCTGGCAGGGGCTGAATGGACGAGGTCAGCTGGGGCCGGTGAGAGGCTGGGGACCCTCAGGGTGAGAGCAGCAGCTGGATGAGCTTCTGGAACTCCTCGCGGTGCTCATAGATGTAGACCTCGGTCTCCCAGAGGGCGTTGACCAGCACTGTGTCACTGACCTCATCCAGCATGATGTCCGTCCCCAGCTGGGGGTTCAATCTGTTCGGGCCAGGGAGGAGGGGGTCACCCTAGGATGCTCAGGCTGGGCAGGGGACGCCAGCTAGGACCAGGGTGGGCTTGGGGAACAGAGCAGACCCTTGGGGAAGGGAAAGTCCACACTAGGGCTGGGAGGGGAAGGTCGGTGAGTCCGACCACGCCAGGGCACGGGGCCAAGGGCTGGGGCGGCTGAGCCCTCACCTGAAGTACTGGATGCCGACCATCTCGCACCAGGCCCGTGCCCAGTCCACAGCCCGCCCGTCTGGATCCGTGCACTGGTGAGAAGCAGCCTTGGTGAGTGCCGGGCCCACACCCCGCCCGGCCCGCACCCCGCCCGGCCCTGCCCTGCACTCTCGGAGCCCCAGCCTGGGGAGCCCCAGGCTCTTTCGAGTCAGGCTGAGCCACACAGCAGCAGAGCGGCTCGGGCAAAACCCCTTCCTGGGACTGCAGGGACTGTCCCAGCTGTGCAATCAGAGGGGCAGAGGTCTCAGCAGTGCCCTTTCAGGGATGATGAGTGGGGGAAAGGGTAGCGGCTGAGTCGACAGGCCTCCATGTCCCCTCTCCCTGAAGTTTCCCTCCCTCCCTCCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTTTGAGACAAGGTCTCCTTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCACAGCTCACTGCAGCCTCTGCCTCTTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACCACAGGCACACACCACCATGTCCAGCTAGTTTTTAATTTTTTGGTAGAGACAAAGTCTCATTATATTGCTCAGGCTGGTCTCAAACTGCTGTGCTCAAGTGGTCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCGCCCAGCCCGCTCTGGAGCCTTTGTCCATTCTGGGCTTCTACACTGCGCTATGTTTGCAGAAAGGGATCCGCAGCTAAAAAGCGTTTGAAAACCCCCCTGCTGGTGGTCACTGAGGGTCCCTGCCCCGCACTGAGACTCTGAACTGTGGACTCTCTCTCCCTCCAGCTGGCTAAAGGCGATGGACAGAGCCCTGCTGTCTCCTCCAACACCAAAGGCCCCACAGGATGAGGGGAAGCCATCGACCTGGGCTACAGACCCTGAGGGAAGTGGCCTGGGGGAGGGGCCCACACTCACACAGTCCACCACCATCTTGCCCAGTTCCTTGGCCCCAAAAACAGTCTTGGCCAGCTCCCAGGGGTTGCTGGGACGGAAGACATCCACACAGGTCACAGGCACTTGTGGGGACCTCCCTGTCCCCAGGGAGACAACGATGGAGAGTTTCTTCACCTTGTTGGCCTGACCCTGTTGGGAACAGGACAGGGGCAGTCAGAAGAGACCTTCCACAGGTAGGGGGCACGAAGGGGAGCGTCAAGGGGAGGCCCAAGACTGGGCTCTGGGGCACATGAGAACAGGGCAAGAGGTCTCTGGTGGCAAGAGCATGCCTGGCATGATTTCCAGCCAGCCTCTTGCACGTGACCCCAGAACGGCTGGTGCGGGCATCACATGCCATCTGCTCAGGACAGCATCTGTGTACCAACAGGACCACACATACACCAGCTGCAAGAAGGATCCCGCCCACCCCATCTGATGCTGGCCCAAGTCAAGTCGTGGCCAGGGGAGGAAAGGCAGACGGTGTTCCTTGGTGTTGGTGATTTGCCAGGTATTTGCATCATTACTTCATTTAATCTCCAGCCAGTCTGTGGAGAGGGCACTGATCACCCAGTTTGCAAATGAGGGCTCTCAGCGAAGCTCAGGCCGGGAAGCAGCTGCAGGGGCCACGTGGTAGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGCTGCCTCTCTTATTTGCTTCCGAACAAGCTCTGCTGCCGATTTGCTGGATGATCTTGGGTGATGCCTCCCACTCTGGGTCCCAGGCTCCCCATCCGCACGCAATAGGAG
Task1_train_28796
The variant affects gene PLA2G6 (phospholipase A2 group VI), which is on Chromosome 22. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Neurodegeneration with brain iron accumulation 2B
GTAGAACTGGTCCATCTCGGGGGCCATGGAGGGGCTGTCCCGGGTCTGAGCAGGAGGCTGGGAGCTGGTGGCGATGGCACAGCCGGGAGCAGTGGTAGGTAGTCCCTCAGGTGCCCACGACTCAGCTGGCAGCGAGGAAGCCTCGGAGAGGGACCTGGAGATGGAGGCCTGCCTCAGAGGAGTGGCAGCTTAATTATTCACCAACTCGGGATGTCAGAATGTGATCTGGGGCGTAACCAGATCCGGCAGGGAAGGCATCCTGTGCCGGGCAGGCTCGTGTGACCTGCCCTTCAATTATTCACCCCTTGGAGCTGTGGGCTGATACAAGTGCCCATGTGGATGAGCCCCCTCCTGGGTCACCCCCTCCTCAAGGACCCCAACCCTGGGGGGCCCCGCCCTCCCACCTGCCTATACCAGGCATTGCCCACCTTACTGGGCGGGCGCTGCCCGATGCCCTCCCCCAGGACTCTCTCTGCCAGACCCAGCAGCAGCAGCCCCTGGAGGGGAACGCCGCTTTACTTCTCACTGTCCTCAGGCCTGCGGCTCACAGTGGGGCCACGCCCTCTGAGCTTGGCTCCCACAGCCGCTCTGGCCCGCCCAGCTCCTCCACTTGCCGGAGCAGGAGCAGCACAAACGCTGGAGTTGCCCAGCCCTGGGCAGACCTCGGCCCTGCACACGCGCTGCCTGTCCACGCGGAGTCCCCGGCCTCTCTGGGTGACAAATGGGGCTCTCCCTGGTCCTCCAAGATGAAGTTGAAGATTGTGGCCCTCCTTGGGCCTGCCGGGGGTATGTGGGCCTGGCAGCTGCCTCTGCATACCCTAAGGGCCGGTTTAGGGGAGGCCTAGAGGAAAGAGGAGGTGTCCCTGCCCAGGGATCCTGGAAAACAGAGTGTCCGGGTACAAAGGAAAAGTCCGGTCAAGGCCAAGGGTCAAGGCCGAGGGGAGCCGGGGGTCAGGGGAACAGGTGGATCTCACACCACTGCACACACAACACAGGTGAACTTGAATCCAAATGATTTATTTCAGTTTTGGCTCTTAAGCCACTTCCATTGGGAAGAAGAAACTCCCAGGAGTGACCTTTGAGAGCTGAGGGTTCTCGGGGTGGGGCAGTGTGAGGGGCTGGGCCAGTGTGAGGGGCAAAGTCCAACGGGCATCCCACTCCTGCGGCCTGGGCTTTCCCAGCTGATGGGGTGGGGGACACCCATTTCTTTAGTCCCAGCCCCCAGGGAACGGAGCAGAGGGCAGAGGGAGTGGGCTGCACCCACCAGGAAGCCTGGGAGTGCCCTTGCTGGGGGCTGGGGCAGAGGCAGCCCGGCAGGCCCTCAGGGAGGCTGGGGCTGGGGGCAGGGGTACGGTTGTGCCCGGGTACCCTTAATGTTTGAGCTGATGGGGGAGTCAGTTGTCCTTGACAGTCAGGGAAAGGGGCCAAAGGGGGCTCTAGACTTTCCCAGCCTGGAATGACAGAAAGTGCTGGAAGGCGGGGTTAGTGGGAGACAGGCCTTCAGGACCAGCCTCGGGCAGGCAGCTTGGCATTCTCCCAGGCCTGGTCTATGGACTCAGAGGTGCCTGGGCCCAGATCTGCCCGGGAGGGCAGTGGCTGGGCTTGGCCTGGCAGGGGCTGAATGGACGAGGTCAGCTGGGGCCGGTGAGAGGCTGGGGACCCTCAGGGTGAGAGCAGCAGCTGGATGAGCTTCTGGAACTCCTCGCGGTGCTCATAGATGTAGACCTCGGTCTCCCAGAGGGCGTTGACCAGCACTGTGTCACTGACCTCATCCAGCATGATGTCCGTCCCCAGCTGGGGGTTCAATCTGTTCGGGCCAGGGAGGAGGGGGTCACCCTAGGATGCTCAGGCTGGGCAGGGGACGCCAGCTAGGACCAGGGTGGGCTTGGGGAACAGAGCAGACCCTTGGGGAAGGGAAAGTCCACACTAGGGCTGGGAGGGGAAGGTCGGTGAGTCCGACCACGCCAGGGCACGGGGCCAAGGGCTGGGGCGGCTGAGCCCTCACCTGAAGTACTGGATGCCGACCATCTCGCACCAGGCCCGTGCCCGGTCCACAGCCCGCCCGTCTGGATCCGTGCACTGGTGAGAAGCAGCCTTGGTGAGTGCCGGGCCCACACCCCGCCCGGCCCGCACCCCGCCCGGCCCTGCCCTGCACTCTCGGAGCCCCAGCCTGGGGAGCCCCAGGCTCTTTCGAGTCAGGCTGAGCCACACAGCAGCAGAGCGGCTCGGGCAAAACCCCTTCCTGGGACTGCAGGGACTGTCCCAGCTGTGCAATCAGAGGGGCAGAGGTCTCAGCAGTGCCCTTTCAGGGATGATGAGTGGGGGAAAGGGTAGCGGCTGAGTCGACAGGCCTCCATGTCCCCTCTCCCTGAAGTTTCCCTCCCTCCCTCCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTTTGAGACAAGGTCTCCTTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCACAGCTCACTGCAGCCTCTGCCTCTTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACCACAGGCACACACCACCATGTCCAGCTAGTTTTTAATTTTTTGGTAGAGACAAAGTCTCATTATATTGCTCAGGCTGGTCTCAAACTGCTGTGCTCAAGTGGTCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCGCCCAGCCCGCTCTGGAGCCTTTGTCCATTCTGGGCTTCTACACTGCGCTATGTTTGCAGAAAGGGATCCGCAGCTAAAAAGCGTTTGAAAACCCCCCTGCTGGTGGTCACTGAGGGTCCCTGCCCCGCACTGAGACTCTGAACTGTGGACTCTCTCTCCCTCCAGCTGGCTAAAGGCGATGGACAGAGCCCTGCTGTCTCCTCCAACACCAAAGGCCCCACAGGATGAGGGGAAGCCATCGACCTGGGCTACAGACCCTGAGGGAAGTGGCCTGGGGGAGGGGCCCACACTCACACAGTCCACCACCATCTTGCCCAGTTCCTTGGCCCCAAAAACAGTCTTGGCCAGCTCCCAGGGGTTGCTGGGACGGAAGACATCCACACAGGTCACAGGCACTTGTGGGGACCTCCCTGTCCCCAGGGAGACAACGATGGAGAGTTTCTTCACCTTGTTGGCCTGACCCTGTTGGGAACAGGACAGGGGCAGTCAGAAGAGACCTTCCACAGGTAGGGGGCACGAAGGGGAGCGTCAAGGGGAGGCCCAAGACTGGGCTCTGGGGCACATGAGAACAGGGCAAGAGGTCTCTGGTGGCAAGAGCATGCCTGGCATGATTTCCAGCCAGCCTCTTGCACGTGACCCCAGAACGGCTGGTGCGGGCATCACATGCCATCTGCTCAGGACAGCATCTGTGTACCAACAGGACCACACATACACCAGCTGCAAGAAGGATCCCGCCCACCCCATCTGATGCTGGCCCAAGTCAAGTCGTGGCCAGGGGAGGAAAGGCAGACGGTGTTCCTTGGTGTTGGTGATTTGCCAGGTATTTGCATCATTACTTCATTTAATCTCCAGCCAGTCTGTGGAGAGGGCACTGATCACCCAGTTTGCAAATGAGGGCTCTCAGCGAAGCTCAGGCCGGGAAGCAGCTGCAGGGGCCACGTGGTAGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGCTGCCTCTCTTATTTGCTTCCGAACAAGCTCTGCTGCCGATTTGCTGGATGATCTTGGGTGATGCCTCCCACTCTGGGTCCCAGGCTCCCCATCCGCACGCAATAGGAG
GTAGAACTGGTCCATCTCGGGGGCCATGGAGGGGCTGTCCCGGGTCTGAGCAGGAGGCTGGGAGCTGGTGGCGATGGCACAGCCGGGAGCAGTGGTAGGTAGTCCCTCAGGTGCCCACGACTCAGCTGGCAGCGAGGAAGCCTCGGAGAGGGACCTGGAGATGGAGGCCTGCCTCAGAGGAGTGGCAGCTTAATTATTCACCAACTCGGGATGTCAGAATGTGATCTGGGGCGTAACCAGATCCGGCAGGGAAGGCATCCTGTGCCGGGCAGGCTCGTGTGACCTGCCCTTCAATTATTCACCCCTTGGAGCTGTGGGCTGATACAAGTGCCCATGTGGATGAGCCCCCTCCTGGGTCACCCCCTCCTCAAGGACCCCAACCCTGGGGGGCCCCGCCCTCCCACCTGCCTATACCAGGCATTGCCCACCTTACTGGGCGGGCGCTGCCCGATGCCCTCCCCCAGGACTCTCTCTGCCAGACCCAGCAGCAGCAGCCCCTGGAGGGGAACGCCGCTTTACTTCTCACTGTCCTCAGGCCTGCGGCTCACAGTGGGGCCACGCCCTCTGAGCTTGGCTCCCACAGCCGCTCTGGCCCGCCCAGCTCCTCCACTTGCCGGAGCAGGAGCAGCACAAACGCTGGAGTTGCCCAGCCCTGGGCAGACCTCGGCCCTGCACACGCGCTGCCTGTCCACGCGGAGTCCCCGGCCTCTCTGGGTGACAAATGGGGCTCTCCCTGGTCCTCCAAGATGAAGTTGAAGATTGTGGCCCTCCTTGGGCCTGCCGGGGGTATGTGGGCCTGGCAGCTGCCTCTGCATACCCTAAGGGCCGGTTTAGGGGAGGCCTAGAGGAAAGAGGAGGTGTCCCTGCCCAGGGATCCTGGAAAACAGAGTGTCCGGGTACAAAGGAAAAGTCCGGTCAAGGCCAAGGGTCAAGGCCGAGGGGAGCCGGGGGTCAGGGGAACAGGTGGATCTCACACCACTGCACACACAACACAGGTGAACTTGAATCCAAATGATTTATTTCAGTTTTGGCTCTTAAGCCACTTCCATTGGGAAGAAGAAACTCCCAGGAGTGACCTTTGAGAGCTGAGGGTTCTCGGGGTGGGGCAGTGTGAGGGGCTGGGCCAGTGTGAGGGGCAAAGTCCAACGGGCATCCCACTCCTGCGGCCTGGGCTTTCCCAGCTGATGGGGTGGGGGACACCCATTTCTTTAGTCCCAGCCCCCAGGGAACGGAGCAGAGGGCAGAGGGAGTGGGCTGCACCCACCAGGAAGCCTGGGAGTGCCCTTGCTGGGGGCTGGGGCAGAGGCAGCCCGGCAGGCCCTCAGGGAGGCTGGGGCTGGGGGCAGGGGTACGGTTGTGCCCGGGTACCCTTAATGTTTGAGCTGATGGGGGAGTCAGTTGTCCTTGACAGTCAGGGAAAGGGGCCAAAGGGGGCTCTAGACTTTCCCAGCCTGGAATGACAGAAAGTGCTGGAAGGCGGGGTTAGTGGGAGACAGGCCTTCAGGACCAGCCTCGGGCAGGCAGCTTGGCATTCTCCCAGGCCTGGTCTATGGACTCAGAGGTGCCTGGGCCCAGATCTGCCCGGGAGGGCAGTGGCTGGGCTTGGCCTGGCAGGGGCTGAATGGACGAGGTCAGCTGGGGCCGGTGAGAGGCTGGGGACCCTCAGGGTGAGAGCAGCAGCTGGATGAGCTTCTGGAACTCCTCGCGGTGCTCATAGATGTAGACCTCGGTCTCCCAGAGGGCGTTGACCAGCACTGTGTCACTGACCTCATCCAGCATGATGTCCGTCCCCAGCTGGGGGTTCAATCTGTTCGGGCCAGGGAGGAGGGGGTCACCCTAGGATGCTCAGGCTGGGCAGGGGACGCCAGCTAGGACCAGGGTGGGCTTGGGGAACAGAGCAGACCCTTGGGGAAGGGAAAGTCCACACTAGGGCTGGGAGGGGAAGGTCGGTGAGTCCGACCACGCCAGGGCACGGGGCCAAGGGCTGGGGCGGCTGAGCCCTCACCTGAAGTACTGGATGCCGACCATCTCGCACCAGGCCCGTGCCCAGTCCACAGCCCGCCCGTCTGGATCCGTGCACTGGTGAGAAGCAGCCTTGGTGAGTGCCGGGCCCACACCCCGCCCGGCCCGCACCCCGCCCGGCCCTGCCCTGCACTCTCGGAGCCCCAGCCTGGGGAGCCCCAGGCTCTTTCGAGTCAGGCTGAGCCACACAGCAGCAGAGCGGCTCGGGCAAAACCCCTTCCTGGGACTGCAGGGACTGTCCCAGCTGTGCAATCAGAGGGGCAGAGGTCTCAGCAGTGCCCTTTCAGGGATGATGAGTGGGGGAAAGGGTAGCGGCTGAGTCGACAGGCCTCCATGTCCCCTCTCCCTGAAGTTTCCCTCCCTCCCTCCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTTTGAGACAAGGTCTCCTTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCACAGCTCACTGCAGCCTCTGCCTCTTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACCACAGGCACACACCACCATGTCCAGCTAGTTTTTAATTTTTTGGTAGAGACAAAGTCTCATTATATTGCTCAGGCTGGTCTCAAACTGCTGTGCTCAAGTGGTCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCGCCCAGCCCGCTCTGGAGCCTTTGTCCATTCTGGGCTTCTACACTGCGCTATGTTTGCAGAAAGGGATCCGCAGCTAAAAAGCGTTTGAAAACCCCCCTGCTGGTGGTCACTGAGGGTCCCTGCCCCGCACTGAGACTCTGAACTGTGGACTCTCTCTCCCTCCAGCTGGCTAAAGGCGATGGACAGAGCCCTGCTGTCTCCTCCAACACCAAAGGCCCCACAGGATGAGGGGAAGCCATCGACCTGGGCTACAGACCCTGAGGGAAGTGGCCTGGGGGAGGGGCCCACACTCACACAGTCCACCACCATCTTGCCCAGTTCCTTGGCCCCAAAAACAGTCTTGGCCAGCTCCCAGGGGTTGCTGGGACGGAAGACATCCACACAGGTCACAGGCACTTGTGGGGACCTCCCTGTCCCCAGGGAGACAACGATGGAGAGTTTCTTCACCTTGTTGGCCTGACCCTGTTGGGAACAGGACAGGGGCAGTCAGAAGAGACCTTCCACAGGTAGGGGGCACGAAGGGGAGCGTCAAGGGGAGGCCCAAGACTGGGCTCTGGGGCACATGAGAACAGGGCAAGAGGTCTCTGGTGGCAAGAGCATGCCTGGCATGATTTCCAGCCAGCCTCTTGCACGTGACCCCAGAACGGCTGGTGCGGGCATCACATGCCATCTGCTCAGGACAGCATCTGTGTACCAACAGGACCACACATACACCAGCTGCAAGAAGGATCCCGCCCACCCCATCTGATGCTGGCCCAAGTCAAGTCGTGGCCAGGGGAGGAAAGGCAGACGGTGTTCCTTGGTGTTGGTGATTTGCCAGGTATTTGCATCATTACTTCATTTAATCTCCAGCCAGTCTGTGGAGAGGGCACTGATCACCCAGTTTGCAAATGAGGGCTCTCAGCGAAGCTCAGGCCGGGAAGCAGCTGCAGGGGCCACGTGGTAGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGCTGCCTCTCTTATTTGCTTCCGAACAAGCTCTGCTGCCGATTTGCTGGATGATCTTGGGTGATGCCTCCCACTCTGGGTCCCAGGCTCCCCATCCGCACGCAATAGGAG
Task1_train_28797
A sequence alteration has been identified in PLA2G6 (phospholipase A2 group VI) on Chromosome 22. Is it disease-inducing or harmless?
Pathogenic; Autosomal recessive Parkinson disease 14
GTAGAACTGGTCCATCTCGGGGGCCATGGAGGGGCTGTCCCGGGTCTGAGCAGGAGGCTGGGAGCTGGTGGCGATGGCACAGCCGGGAGCAGTGGTAGGTAGTCCCTCAGGTGCCCACGACTCAGCTGGCAGCGAGGAAGCCTCGGAGAGGGACCTGGAGATGGAGGCCTGCCTCAGAGGAGTGGCAGCTTAATTATTCACCAACTCGGGATGTCAGAATGTGATCTGGGGCGTAACCAGATCCGGCAGGGAAGGCATCCTGTGCCGGGCAGGCTCGTGTGACCTGCCCTTCAATTATTCACCCCTTGGAGCTGTGGGCTGATACAAGTGCCCATGTGGATGAGCCCCCTCCTGGGTCACCCCCTCCTCAAGGACCCCAACCCTGGGGGGCCCCGCCCTCCCACCTGCCTATACCAGGCATTGCCCACCTTACTGGGCGGGCGCTGCCCGATGCCCTCCCCCAGGACTCTCTCTGCCAGACCCAGCAGCAGCAGCCCCTGGAGGGGAACGCCGCTTTACTTCTCACTGTCCTCAGGCCTGCGGCTCACAGTGGGGCCACGCCCTCTGAGCTTGGCTCCCACAGCCGCTCTGGCCCGCCCAGCTCCTCCACTTGCCGGAGCAGGAGCAGCACAAACGCTGGAGTTGCCCAGCCCTGGGCAGACCTCGGCCCTGCACACGCGCTGCCTGTCCACGCGGAGTCCCCGGCCTCTCTGGGTGACAAATGGGGCTCTCCCTGGTCCTCCAAGATGAAGTTGAAGATTGTGGCCCTCCTTGGGCCTGCCGGGGGTATGTGGGCCTGGCAGCTGCCTCTGCATACCCTAAGGGCCGGTTTAGGGGAGGCCTAGAGGAAAGAGGAGGTGTCCCTGCCCAGGGATCCTGGAAAACAGAGTGTCCGGGTACAAAGGAAAAGTCCGGTCAAGGCCAAGGGTCAAGGCCGAGGGGAGCCGGGGGTCAGGGGAACAGGTGGATCTCACACCACTGCACACACAACACAGGTGAACTTGAATCCAAATGATTTATTTCAGTTTTGGCTCTTAAGCCACTTCCATTGGGAAGAAGAAACTCCCAGGAGTGACCTTTGAGAGCTGAGGGTTCTCGGGGTGGGGCAGTGTGAGGGGCTGGGCCAGTGTGAGGGGCAAAGTCCAACGGGCATCCCACTCCTGCGGCCTGGGCTTTCCCAGCTGATGGGGTGGGGGACACCCATTTCTTTAGTCCCAGCCCCCAGGGAACGGAGCAGAGGGCAGAGGGAGTGGGCTGCACCCACCAGGAAGCCTGGGAGTGCCCTTGCTGGGGGCTGGGGCAGAGGCAGCCCGGCAGGCCCTCAGGGAGGCTGGGGCTGGGGGCAGGGGTACGGTTGTGCCCGGGTACCCTTAATGTTTGAGCTGATGGGGGAGTCAGTTGTCCTTGACAGTCAGGGAAAGGGGCCAAAGGGGGCTCTAGACTTTCCCAGCCTGGAATGACAGAAAGTGCTGGAAGGCGGGGTTAGTGGGAGACAGGCCTTCAGGACCAGCCTCGGGCAGGCAGCTTGGCATTCTCCCAGGCCTGGTCTATGGACTCAGAGGTGCCTGGGCCCAGATCTGCCCGGGAGGGCAGTGGCTGGGCTTGGCCTGGCAGGGGCTGAATGGACGAGGTCAGCTGGGGCCGGTGAGAGGCTGGGGACCCTCAGGGTGAGAGCAGCAGCTGGATGAGCTTCTGGAACTCCTCGCGGTGCTCATAGATGTAGACCTCGGTCTCCCAGAGGGCGTTGACCAGCACTGTGTCACTGACCTCATCCAGCATGATGTCCGTCCCCAGCTGGGGGTTCAATCTGTTCGGGCCAGGGAGGAGGGGGTCACCCTAGGATGCTCAGGCTGGGCAGGGGACGCCAGCTAGGACCAGGGTGGGCTTGGGGAACAGAGCAGACCCTTGGGGAAGGGAAAGTCCACACTAGGGCTGGGAGGGGAAGGTCGGTGAGTCCGACCACGCCAGGGCACGGGGCCAAGGGCTGGGGCGGCTGAGCCCTCACCTGAAGTACTGGATGCCGACCATCTCGCACCAGGCCCGTGCCCGGTCCACAGCCCGCCCGTCTGGATCCGTGCACTGGTGAGAAGCAGCCTTGGTGAGTGCCGGGCCCACACCCCGCCCGGCCCGCACCCCGCCCGGCCCTGCCCTGCACTCTCGGAGCCCCAGCCTGGGGAGCCCCAGGCTCTTTCGAGTCAGGCTGAGCCACACAGCAGCAGAGCGGCTCGGGCAAAACCCCTTCCTGGGACTGCAGGGACTGTCCCAGCTGTGCAATCAGAGGGGCAGAGGTCTCAGCAGTGCCCTTTCAGGGATGATGAGTGGGGGAAAGGGTAGCGGCTGAGTCGACAGGCCTCCATGTCCCCTCTCCCTGAAGTTTCCCTCCCTCCCTCCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTTTGAGACAAGGTCTCCTTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCACAGCTCACTGCAGCCTCTGCCTCTTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACCACAGGCACACACCACCATGTCCAGCTAGTTTTTAATTTTTTGGTAGAGACAAAGTCTCATTATATTGCTCAGGCTGGTCTCAAACTGCTGTGCTCAAGTGGTCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCGCCCAGCCCGCTCTGGAGCCTTTGTCCATTCTGGGCTTCTACACTGCGCTATGTTTGCAGAAAGGGATCCGCAGCTAAAAAGCGTTTGAAAACCCCCCTGCTGGTGGTCACTGAGGGTCCCTGCCCCGCACTGAGACTCTGAACTGTGGACTCTCTCTCCCTCCAGCTGGCTAAAGGCGATGGACAGAGCCCTGCTGTCTCCTCCAACACCAAAGGCCCCACAGGATGAGGGGAAGCCATCGACCTGGGCTACAGACCCTGAGGGAAGTGGCCTGGGGGAGGGGCCCACACTCACACAGTCCACCACCATCTTGCCCAGTTCCTTGGCCCCAAAAACAGTCTTGGCCAGCTCCCAGGGGTTGCTGGGACGGAAGACATCCACACAGGTCACAGGCACTTGTGGGGACCTCCCTGTCCCCAGGGAGACAACGATGGAGAGTTTCTTCACCTTGTTGGCCTGACCCTGTTGGGAACAGGACAGGGGCAGTCAGAAGAGACCTTCCACAGGTAGGGGGCACGAAGGGGAGCGTCAAGGGGAGGCCCAAGACTGGGCTCTGGGGCACATGAGAACAGGGCAAGAGGTCTCTGGTGGCAAGAGCATGCCTGGCATGATTTCCAGCCAGCCTCTTGCACGTGACCCCAGAACGGCTGGTGCGGGCATCACATGCCATCTGCTCAGGACAGCATCTGTGTACCAACAGGACCACACATACACCAGCTGCAAGAAGGATCCCGCCCACCCCATCTGATGCTGGCCCAAGTCAAGTCGTGGCCAGGGGAGGAAAGGCAGACGGTGTTCCTTGGTGTTGGTGATTTGCCAGGTATTTGCATCATTACTTCATTTAATCTCCAGCCAGTCTGTGGAGAGGGCACTGATCACCCAGTTTGCAAATGAGGGCTCTCAGCGAAGCTCAGGCCGGGAAGCAGCTGCAGGGGCCACGTGGTAGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGCTGCCTCTCTTATTTGCTTCCGAACAAGCTCTGCTGCCGATTTGCTGGATGATCTTGGGTGATGCCTCCCACTCTGGGTCCCAGGCTCCCCATCCGCACGCAATAGGAG
GTAGAACTGGTCCATCTCGGGGGCCATGGAGGGGCTGTCCCGGGTCTGAGCAGGAGGCTGGGAGCTGGTGGCGATGGCACAGCCGGGAGCAGTGGTAGGTAGTCCCTCAGGTGCCCACGACTCAGCTGGCAGCGAGGAAGCCTCGGAGAGGGACCTGGAGATGGAGGCCTGCCTCAGAGGAGTGGCAGCTTAATTATTCACCAACTCGGGATGTCAGAATGTGATCTGGGGCGTAACCAGATCCGGCAGGGAAGGCATCCTGTGCCGGGCAGGCTCGTGTGACCTGCCCTTCAATTATTCACCCCTTGGAGCTGTGGGCTGATACAAGTGCCCATGTGGATGAGCCCCCTCCTGGGTCACCCCCTCCTCAAGGACCCCAACCCTGGGGGGCCCCGCCCTCCCACCTGCCTATACCAGGCATTGCCCACCTTACTGGGCGGGCGCTGCCCGATGCCCTCCCCCAGGACTCTCTCTGCCAGACCCAGCAGCAGCAGCCCCTGGAGGGGAACGCCGCTTTACTTCTCACTGTCCTCAGGCCTGCGGCTCACAGTGGGGCCACGCCCTCTGAGCTTGGCTCCCACAGCCGCTCTGGCCCGCCCAGCTCCTCCACTTGCCGGAGCAGGAGCAGCACAAACGCTGGAGTTGCCCAGCCCTGGGCAGACCTCGGCCCTGCACACGCGCTGCCTGTCCACGCGGAGTCCCCGGCCTCTCTGGGTGACAAATGGGGCTCTCCCTGGTCCTCCAAGATGAAGTTGAAGATTGTGGCCCTCCTTGGGCCTGCCGGGGGTATGTGGGCCTGGCAGCTGCCTCTGCATACCCTAAGGGCCGGTTTAGGGGAGGCCTAGAGGAAAGAGGAGGTGTCCCTGCCCAGGGATCCTGGAAAACAGAGTGTCCGGGTACAAAGGAAAAGTCCGGTCAAGGCCAAGGGTCAAGGCCGAGGGGAGCCGGGGGTCAGGGGAACAGGTGGATCTCACACCACTGCACACACAACACAGGTGAACTTGAATCCAAATGATTTATTTCAGTTTTGGCTCTTAAGCCACTTCCATTGGGAAGAAGAAACTCCCAGGAGTGACCTTTGAGAGCTGAGGGTTCTCGGGGTGGGGCAGTGTGAGGGGCTGGGCCAGTGTGAGGGGCAAAGTCCAACGGGCATCCCACTCCTGCGGCCTGGGCTTTCCCAGCTGATGGGGTGGGGGACACCCATTTCTTTAGTCCCAGCCCCCAGGGAACGGAGCAGAGGGCAGAGGGAGTGGGCTGCACCCACCAGGAAGCCTGGGAGTGCCCTTGCTGGGGGCTGGGGCAGAGGCAGCCCGGCAGGCCCTCAGGGAGGCTGGGGCTGGGGGCAGGGGTACGGTTGTGCCCGGGTACCCTTAATGTTTGAGCTGATGGGGGAGTCAGTTGTCCTTGACAGTCAGGGAAAGGGGCCAAAGGGGGCTCTAGACTTTCCCAGCCTGGAATGACAGAAAGTGCTGGAAGGCGGGGTTAGTGGGAGACAGGCCTTCAGGACCAGCCTCGGGCAGGCAGCTTGGCATTCTCCCAGGCCTGGTCTATGGACTCAGAGGTGCCTGGGCCCAGATCTGCCCGGGAGGGCAGTGGCTGGGCTTGGCCTGGCAGGGGCTGAATGGACGAGGTCAGCTGGGGCCGGTGAGAGGCTGGGGACCCTCAGGGTGAGAGCAGCAGCTGGATGAGCTTCTGGAACTCCTCGCGGTGCTCATAGATGTAGACCTCGGTCTCCCAGAGGGCGTTGACCAGCACTGTGTCACTGACCTCATCCAGCATGATGTCCGTCCCCAGCTGGGGGTTCAATCTGTTCGGGCCAGGGAGGAGGGGGTCACCCTAGGATGCTCAGGCTGGGCAGGGGACGCCAGCTAGGACCAGGGTGGGCTTGGGGAACAGAGCAGACCCTTGGGGAAGGGAAAGTCCACACTAGGGCTGGGAGGGGAAGGTCGGTGAGTCCGACCACGCCAGGGCACGGGGCCAAGGGCTGGGGCGGCTGAGCCCTCACCTGAAGTACTGGATGCCGACCATCTCGCACCAGGCCCGTGCCCAGTCCACAGCCCGCCCGTCTGGATCCGTGCACTGGTGAGAAGCAGCCTTGGTGAGTGCCGGGCCCACACCCCGCCCGGCCCGCACCCCGCCCGGCCCTGCCCTGCACTCTCGGAGCCCCAGCCTGGGGAGCCCCAGGCTCTTTCGAGTCAGGCTGAGCCACACAGCAGCAGAGCGGCTCGGGCAAAACCCCTTCCTGGGACTGCAGGGACTGTCCCAGCTGTGCAATCAGAGGGGCAGAGGTCTCAGCAGTGCCCTTTCAGGGATGATGAGTGGGGGAAAGGGTAGCGGCTGAGTCGACAGGCCTCCATGTCCCCTCTCCCTGAAGTTTCCCTCCCTCCCTCCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTTTGAGACAAGGTCTCCTTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCACAGCTCACTGCAGCCTCTGCCTCTTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACCACAGGCACACACCACCATGTCCAGCTAGTTTTTAATTTTTTGGTAGAGACAAAGTCTCATTATATTGCTCAGGCTGGTCTCAAACTGCTGTGCTCAAGTGGTCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCGCCCAGCCCGCTCTGGAGCCTTTGTCCATTCTGGGCTTCTACACTGCGCTATGTTTGCAGAAAGGGATCCGCAGCTAAAAAGCGTTTGAAAACCCCCCTGCTGGTGGTCACTGAGGGTCCCTGCCCCGCACTGAGACTCTGAACTGTGGACTCTCTCTCCCTCCAGCTGGCTAAAGGCGATGGACAGAGCCCTGCTGTCTCCTCCAACACCAAAGGCCCCACAGGATGAGGGGAAGCCATCGACCTGGGCTACAGACCCTGAGGGAAGTGGCCTGGGGGAGGGGCCCACACTCACACAGTCCACCACCATCTTGCCCAGTTCCTTGGCCCCAAAAACAGTCTTGGCCAGCTCCCAGGGGTTGCTGGGACGGAAGACATCCACACAGGTCACAGGCACTTGTGGGGACCTCCCTGTCCCCAGGGAGACAACGATGGAGAGTTTCTTCACCTTGTTGGCCTGACCCTGTTGGGAACAGGACAGGGGCAGTCAGAAGAGACCTTCCACAGGTAGGGGGCACGAAGGGGAGCGTCAAGGGGAGGCCCAAGACTGGGCTCTGGGGCACATGAGAACAGGGCAAGAGGTCTCTGGTGGCAAGAGCATGCCTGGCATGATTTCCAGCCAGCCTCTTGCACGTGACCCCAGAACGGCTGGTGCGGGCATCACATGCCATCTGCTCAGGACAGCATCTGTGTACCAACAGGACCACACATACACCAGCTGCAAGAAGGATCCCGCCCACCCCATCTGATGCTGGCCCAAGTCAAGTCGTGGCCAGGGGAGGAAAGGCAGACGGTGTTCCTTGGTGTTGGTGATTTGCCAGGTATTTGCATCATTACTTCATTTAATCTCCAGCCAGTCTGTGGAGAGGGCACTGATCACCCAGTTTGCAAATGAGGGCTCTCAGCGAAGCTCAGGCCGGGAAGCAGCTGCAGGGGCCACGTGGTAGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGCTGCCTCTCTTATTTGCTTCCGAACAAGCTCTGCTGCCGATTTGCTGGATGATCTTGGGTGATGCCTCCCACTCTGGGTCCCAGGCTCCCCATCCGCACGCAATAGGAG
Task1_train_28798
Located on Chromosome 22, this mutation impacts PLA2G6 (phospholipase A2 group VI). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Iron accumulation in brain
GTAGAACTGGTCCATCTCGGGGGCCATGGAGGGGCTGTCCCGGGTCTGAGCAGGAGGCTGGGAGCTGGTGGCGATGGCACAGCCGGGAGCAGTGGTAGGTAGTCCCTCAGGTGCCCACGACTCAGCTGGCAGCGAGGAAGCCTCGGAGAGGGACCTGGAGATGGAGGCCTGCCTCAGAGGAGTGGCAGCTTAATTATTCACCAACTCGGGATGTCAGAATGTGATCTGGGGCGTAACCAGATCCGGCAGGGAAGGCATCCTGTGCCGGGCAGGCTCGTGTGACCTGCCCTTCAATTATTCACCCCTTGGAGCTGTGGGCTGATACAAGTGCCCATGTGGATGAGCCCCCTCCTGGGTCACCCCCTCCTCAAGGACCCCAACCCTGGGGGGCCCCGCCCTCCCACCTGCCTATACCAGGCATTGCCCACCTTACTGGGCGGGCGCTGCCCGATGCCCTCCCCCAGGACTCTCTCTGCCAGACCCAGCAGCAGCAGCCCCTGGAGGGGAACGCCGCTTTACTTCTCACTGTCCTCAGGCCTGCGGCTCACAGTGGGGCCACGCCCTCTGAGCTTGGCTCCCACAGCCGCTCTGGCCCGCCCAGCTCCTCCACTTGCCGGAGCAGGAGCAGCACAAACGCTGGAGTTGCCCAGCCCTGGGCAGACCTCGGCCCTGCACACGCGCTGCCTGTCCACGCGGAGTCCCCGGCCTCTCTGGGTGACAAATGGGGCTCTCCCTGGTCCTCCAAGATGAAGTTGAAGATTGTGGCCCTCCTTGGGCCTGCCGGGGGTATGTGGGCCTGGCAGCTGCCTCTGCATACCCTAAGGGCCGGTTTAGGGGAGGCCTAGAGGAAAGAGGAGGTGTCCCTGCCCAGGGATCCTGGAAAACAGAGTGTCCGGGTACAAAGGAAAAGTCCGGTCAAGGCCAAGGGTCAAGGCCGAGGGGAGCCGGGGGTCAGGGGAACAGGTGGATCTCACACCACTGCACACACAACACAGGTGAACTTGAATCCAAATGATTTATTTCAGTTTTGGCTCTTAAGCCACTTCCATTGGGAAGAAGAAACTCCCAGGAGTGACCTTTGAGAGCTGAGGGTTCTCGGGGTGGGGCAGTGTGAGGGGCTGGGCCAGTGTGAGGGGCAAAGTCCAACGGGCATCCCACTCCTGCGGCCTGGGCTTTCCCAGCTGATGGGGTGGGGGACACCCATTTCTTTAGTCCCAGCCCCCAGGGAACGGAGCAGAGGGCAGAGGGAGTGGGCTGCACCCACCAGGAAGCCTGGGAGTGCCCTTGCTGGGGGCTGGGGCAGAGGCAGCCCGGCAGGCCCTCAGGGAGGCTGGGGCTGGGGGCAGGGGTACGGTTGTGCCCGGGTACCCTTAATGTTTGAGCTGATGGGGGAGTCAGTTGTCCTTGACAGTCAGGGAAAGGGGCCAAAGGGGGCTCTAGACTTTCCCAGCCTGGAATGACAGAAAGTGCTGGAAGGCGGGGTTAGTGGGAGACAGGCCTTCAGGACCAGCCTCGGGCAGGCAGCTTGGCATTCTCCCAGGCCTGGTCTATGGACTCAGAGGTGCCTGGGCCCAGATCTGCCCGGGAGGGCAGTGGCTGGGCTTGGCCTGGCAGGGGCTGAATGGACGAGGTCAGCTGGGGCCGGTGAGAGGCTGGGGACCCTCAGGGTGAGAGCAGCAGCTGGATGAGCTTCTGGAACTCCTCGCGGTGCTCATAGATGTAGACCTCGGTCTCCCAGAGGGCGTTGACCAGCACTGTGTCACTGACCTCATCCAGCATGATGTCCGTCCCCAGCTGGGGGTTCAATCTGTTCGGGCCAGGGAGGAGGGGGTCACCCTAGGATGCTCAGGCTGGGCAGGGGACGCCAGCTAGGACCAGGGTGGGCTTGGGGAACAGAGCAGACCCTTGGGGAAGGGAAAGTCCACACTAGGGCTGGGAGGGGAAGGTCGGTGAGTCCGACCACGCCAGGGCACGGGGCCAAGGGCTGGGGCGGCTGAGCCCTCACCTGAAGTACTGGATGCCGACCATCTCGCACCAGGCCCGTGCCCGGTCCACAGCCCGCCCGTCTGGATCCGTGCACTGGTGAGAAGCAGCCTTGGTGAGTGCCGGGCCCACACCCCGCCCGGCCCGCACCCCGCCCGGCCCTGCCCTGCACTCTCGGAGCCCCAGCCTGGGGAGCCCCAGGCTCTTTCGAGTCAGGCTGAGCCACACAGCAGCAGAGCGGCTCGGGCAAAACCCCTTCCTGGGACTGCAGGGACTGTCCCAGCTGTGCAATCAGAGGGGCAGAGGTCTCAGCAGTGCCCTTTCAGGGATGATGAGTGGGGGAAAGGGTAGCGGCTGAGTCGACAGGCCTCCATGTCCCCTCTCCCTGAAGTTTCCCTCCCTCCCTCCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTTTGAGACAAGGTCTCCTTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCACAGCTCACTGCAGCCTCTGCCTCTTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACCACAGGCACACACCACCATGTCCAGCTAGTTTTTAATTTTTTGGTAGAGACAAAGTCTCATTATATTGCTCAGGCTGGTCTCAAACTGCTGTGCTCAAGTGGTCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCGCCCAGCCCGCTCTGGAGCCTTTGTCCATTCTGGGCTTCTACACTGCGCTATGTTTGCAGAAAGGGATCCGCAGCTAAAAAGCGTTTGAAAACCCCCCTGCTGGTGGTCACTGAGGGTCCCTGCCCCGCACTGAGACTCTGAACTGTGGACTCTCTCTCCCTCCAGCTGGCTAAAGGCGATGGACAGAGCCCTGCTGTCTCCTCCAACACCAAAGGCCCCACAGGATGAGGGGAAGCCATCGACCTGGGCTACAGACCCTGAGGGAAGTGGCCTGGGGGAGGGGCCCACACTCACACAGTCCACCACCATCTTGCCCAGTTCCTTGGCCCCAAAAACAGTCTTGGCCAGCTCCCAGGGGTTGCTGGGACGGAAGACATCCACACAGGTCACAGGCACTTGTGGGGACCTCCCTGTCCCCAGGGAGACAACGATGGAGAGTTTCTTCACCTTGTTGGCCTGACCCTGTTGGGAACAGGACAGGGGCAGTCAGAAGAGACCTTCCACAGGTAGGGGGCACGAAGGGGAGCGTCAAGGGGAGGCCCAAGACTGGGCTCTGGGGCACATGAGAACAGGGCAAGAGGTCTCTGGTGGCAAGAGCATGCCTGGCATGATTTCCAGCCAGCCTCTTGCACGTGACCCCAGAACGGCTGGTGCGGGCATCACATGCCATCTGCTCAGGACAGCATCTGTGTACCAACAGGACCACACATACACCAGCTGCAAGAAGGATCCCGCCCACCCCATCTGATGCTGGCCCAAGTCAAGTCGTGGCCAGGGGAGGAAAGGCAGACGGTGTTCCTTGGTGTTGGTGATTTGCCAGGTATTTGCATCATTACTTCATTTAATCTCCAGCCAGTCTGTGGAGAGGGCACTGATCACCCAGTTTGCAAATGAGGGCTCTCAGCGAAGCTCAGGCCGGGAAGCAGCTGCAGGGGCCACGTGGTAGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGCTGCCTCTCTTATTTGCTTCCGAACAAGCTCTGCTGCCGATTTGCTGGATGATCTTGGGTGATGCCTCCCACTCTGGGTCCCAGGCTCCCCATCCGCACGCAATAGGAG
GTAGAACTGGTCCATCTCGGGGGCCATGGAGGGGCTGTCCCGGGTCTGAGCAGGAGGCTGGGAGCTGGTGGCGATGGCACAGCCGGGAGCAGTGGTAGGTAGTCCCTCAGGTGCCCACGACTCAGCTGGCAGCGAGGAAGCCTCGGAGAGGGACCTGGAGATGGAGGCCTGCCTCAGAGGAGTGGCAGCTTAATTATTCACCAACTCGGGATGTCAGAATGTGATCTGGGGCGTAACCAGATCCGGCAGGGAAGGCATCCTGTGCCGGGCAGGCTCGTGTGACCTGCCCTTCAATTATTCACCCCTTGGAGCTGTGGGCTGATACAAGTGCCCATGTGGATGAGCCCCCTCCTGGGTCACCCCCTCCTCAAGGACCCCAACCCTGGGGGGCCCCGCCCTCCCACCTGCCTATACCAGGCATTGCCCACCTTACTGGGCGGGCGCTGCCCGATGCCCTCCCCCAGGACTCTCTCTGCCAGACCCAGCAGCAGCAGCCCCTGGAGGGGAACGCCGCTTTACTTCTCACTGTCCTCAGGCCTGCGGCTCACAGTGGGGCCACGCCCTCTGAGCTTGGCTCCCACAGCCGCTCTGGCCCGCCCAGCTCCTCCACTTGCCGGAGCAGGAGCAGCACAAACGCTGGAGTTGCCCAGCCCTGGGCAGACCTCGGCCCTGCACACGCGCTGCCTGTCCACGCGGAGTCCCCGGCCTCTCTGGGTGACAAATGGGGCTCTCCCTGGTCCTCCAAGATGAAGTTGAAGATTGTGGCCCTCCTTGGGCCTGCCGGGGGTATGTGGGCCTGGCAGCTGCCTCTGCATACCCTAAGGGCCGGTTTAGGGGAGGCCTAGAGGAAAGAGGAGGTGTCCCTGCCCAGGGATCCTGGAAAACAGAGTGTCCGGGTACAAAGGAAAAGTCCGGTCAAGGCCAAGGGTCAAGGCCGAGGGGAGCCGGGGGTCAGGGGAACAGGTGGATCTCACACCACTGCACACACAACACAGGTGAACTTGAATCCAAATGATTTATTTCAGTTTTGGCTCTTAAGCCACTTCCATTGGGAAGAAGAAACTCCCAGGAGTGACCTTTGAGAGCTGAGGGTTCTCGGGGTGGGGCAGTGTGAGGGGCTGGGCCAGTGTGAGGGGCAAAGTCCAACGGGCATCCCACTCCTGCGGCCTGGGCTTTCCCAGCTGATGGGGTGGGGGACACCCATTTCTTTAGTCCCAGCCCCCAGGGAACGGAGCAGAGGGCAGAGGGAGTGGGCTGCACCCACCAGGAAGCCTGGGAGTGCCCTTGCTGGGGGCTGGGGCAGAGGCAGCCCGGCAGGCCCTCAGGGAGGCTGGGGCTGGGGGCAGGGGTACGGTTGTGCCCGGGTACCCTTAATGTTTGAGCTGATGGGGGAGTCAGTTGTCCTTGACAGTCAGGGAAAGGGGCCAAAGGGGGCTCTAGACTTTCCCAGCCTGGAATGACAGAAAGTGCTGGAAGGCGGGGTTAGTGGGAGACAGGCCTTCAGGACCAGCCTCGGGCAGGCAGCTTGGCATTCTCCCAGGCCTGGTCTATGGACTCAGAGGTGCCTGGGCCCAGATCTGCCCGGGAGGGCAGTGGCTGGGCTTGGCCTGGCAGGGGCTGAATGGACGAGGTCAGCTGGGGCCGGTGAGAGGCTGGGGACCCTCAGGGTGAGAGCAGCAGCTGGATGAGCTTCTGGAACTCCTCGCGGTGCTCATAGATGTAGACCTCGGTCTCCCAGAGGGCGTTGACCAGCACTGTGTCACTGACCTCATCCAGCATGATGTCCGTCCCCAGCTGGGGGTTCAATCTGTTCGGGCCAGGGAGGAGGGGGTCACCCTAGGATGCTCAGGCTGGGCAGGGGACGCCAGCTAGGACCAGGGTGGGCTTGGGGAACAGAGCAGACCCTTGGGGAAGGGAAAGTCCACACTAGGGCTGGGAGGGGAAGGTCGGTGAGTCCGACCACGCCAGGGCACGGGGCCAAGGGCTGGGGCGGCTGAGCCCTCACCTGAAGTACTGGATGCCGACCATCTCGCACCAGGCCCGTGCCCAGTCCACAGCCCGCCCGTCTGGATCCGTGCACTGGTGAGAAGCAGCCTTGGTGAGTGCCGGGCCCACACCCCGCCCGGCCCGCACCCCGCCCGGCCCTGCCCTGCACTCTCGGAGCCCCAGCCTGGGGAGCCCCAGGCTCTTTCGAGTCAGGCTGAGCCACACAGCAGCAGAGCGGCTCGGGCAAAACCCCTTCCTGGGACTGCAGGGACTGTCCCAGCTGTGCAATCAGAGGGGCAGAGGTCTCAGCAGTGCCCTTTCAGGGATGATGAGTGGGGGAAAGGGTAGCGGCTGAGTCGACAGGCCTCCATGTCCCCTCTCCCTGAAGTTTCCCTCCCTCCCTCCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTTTGAGACAAGGTCTCCTTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCACAGCTCACTGCAGCCTCTGCCTCTTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACCACAGGCACACACCACCATGTCCAGCTAGTTTTTAATTTTTTGGTAGAGACAAAGTCTCATTATATTGCTCAGGCTGGTCTCAAACTGCTGTGCTCAAGTGGTCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCGCCCAGCCCGCTCTGGAGCCTTTGTCCATTCTGGGCTTCTACACTGCGCTATGTTTGCAGAAAGGGATCCGCAGCTAAAAAGCGTTTGAAAACCCCCCTGCTGGTGGTCACTGAGGGTCCCTGCCCCGCACTGAGACTCTGAACTGTGGACTCTCTCTCCCTCCAGCTGGCTAAAGGCGATGGACAGAGCCCTGCTGTCTCCTCCAACACCAAAGGCCCCACAGGATGAGGGGAAGCCATCGACCTGGGCTACAGACCCTGAGGGAAGTGGCCTGGGGGAGGGGCCCACACTCACACAGTCCACCACCATCTTGCCCAGTTCCTTGGCCCCAAAAACAGTCTTGGCCAGCTCCCAGGGGTTGCTGGGACGGAAGACATCCACACAGGTCACAGGCACTTGTGGGGACCTCCCTGTCCCCAGGGAGACAACGATGGAGAGTTTCTTCACCTTGTTGGCCTGACCCTGTTGGGAACAGGACAGGGGCAGTCAGAAGAGACCTTCCACAGGTAGGGGGCACGAAGGGGAGCGTCAAGGGGAGGCCCAAGACTGGGCTCTGGGGCACATGAGAACAGGGCAAGAGGTCTCTGGTGGCAAGAGCATGCCTGGCATGATTTCCAGCCAGCCTCTTGCACGTGACCCCAGAACGGCTGGTGCGGGCATCACATGCCATCTGCTCAGGACAGCATCTGTGTACCAACAGGACCACACATACACCAGCTGCAAGAAGGATCCCGCCCACCCCATCTGATGCTGGCCCAAGTCAAGTCGTGGCCAGGGGAGGAAAGGCAGACGGTGTTCCTTGGTGTTGGTGATTTGCCAGGTATTTGCATCATTACTTCATTTAATCTCCAGCCAGTCTGTGGAGAGGGCACTGATCACCCAGTTTGCAAATGAGGGCTCTCAGCGAAGCTCAGGCCGGGAAGCAGCTGCAGGGGCCACGTGGTAGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGCTGCCTCTCTTATTTGCTTCCGAACAAGCTCTGCTGCCGATTTGCTGGATGATCTTGGGTGATGCCTCCCACTCTGGGTCCCAGGCTCCCCATCCGCACGCAATAGGAG
Task1_train_28799
Consider a variant on Chromosome 22 in gene PLA2G6 (phospholipase A2 group VI). Determine its clinical classification and disease relevance.
Pathogenic; Infantile neuroaxonal dystrophy
AGCTCCCAGGGGTTGCTGGGACGGAAGACATCCACACAGGTCACAGGCACTTGTGGGGACCTCCCTGTCCCCAGGGAGACAACGATGGAGAGTTTCTTCACCTTGTTGGCCTGACCCTGTTGGGAACAGGACAGGGGCAGTCAGAAGAGACCTTCCACAGGTAGGGGGCACGAAGGGGAGCGTCAAGGGGAGGCCCAAGACTGGGCTCTGGGGCACATGAGAACAGGGCAAGAGGTCTCTGGTGGCAAGAGCATGCCTGGCATGATTTCCAGCCAGCCTCTTGCACGTGACCCCAGAACGGCTGGTGCGGGCATCACATGCCATCTGCTCAGGACAGCATCTGTGTACCAACAGGACCACACATACACCAGCTGCAAGAAGGATCCCGCCCACCCCATCTGATGCTGGCCCAAGTCAAGTCGTGGCCAGGGGAGGAAAGGCAGACGGTGTTCCTTGGTGTTGGTGATTTGCCAGGTATTTGCATCATTACTTCATTTAATCTCCAGCCAGTCTGTGGAGAGGGCACTGATCACCCAGTTTGCAAATGAGGGCTCTCAGCGAAGCTCAGGCCGGGAAGCAGCTGCAGGGGCCACGTGGTAGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGCTGCCTCTCTTATTTGCTTCCGAACAAGCTCTGCTGCCGATTTGCTGGATGATCTTGGGTGATGCCTCCCACTCTGGGTCCCAGGCTCCCCATCCGCACGCAATAGGAGAGTTAGACTGGCTAGTGTCTGACAGTCTGACGGTCTCTGCCGCCTGCAGGAAGCCCGCCCTGCCCGATCTGGCCCCTAGAGGGCGCTTCTCTGTCTGCCCAGAGCCTCTGCTGCGCTGCCCAGGACGCCCTGGGGCTTCGGGAAACCACAGCAGCAAGGATGCAGCTCAGGCTCCCGGCAGTGCTGTGAACATTTCACAGACAACAGCATGCCAAGGCCTCGCAGCCTCCCCAGGCAGGCGCTATGATGGCCCCATTAGGTAGCTGCAGTGAGTGCAGGCAGAACGGGGACCCCCAGAGGCGCCCTGGCTCCAGGGTCTGAGCTCAGCCACCGCGCTCGCCCACCCCGGTCACCCACCGCCCGCCACGCCACAGGGCCTCCCCTAGCATGCTGGGTCCTGCCAGCCTCTGCTGTACCTCTGCAGAGAGAGGGCTGCTGCTCTTCCTCCAGATCACTGATTCTGCACTGCTCTGTCCCCAAGGGCCTCAGGATGGGTCCCCTGTTCCATGGAGCCCTTTCCGAGCCCCCAGGCCTTTTAGCAGAGGCCTCACGGTCCTCCACCACAGCACCGGCAACCCGTGGGGACAGGCATTCCTGTGGGACTGTCTATCCACAGAGGTGAGCTCAAGGGCAAGCATGTGTCCTGTCCCCAGGCTGGCTCGAGTGGCACGTTCATGGTATGCATGCCGCCCTCCCCACTCATGCACACTTAGAGCACAGTGGTCCTCAGATCCCCCTTAGCACAGTGCTTCAGGCAGATCCCACCCATGGAACAGGTTCCAGTGAGATCAATTTGCCCTGTGTGCACATATGAATGAGTGCGTGTGTAAAAGCCACCTGCTGTCCTGGGGGTCGGTCCCTAGCATGGTTTGCTGACACAGGATTGGCTCCAGGGAGCAGTGGGTCCAGGCCCTCTGGCCTACGGCACTCACCTTGCGGATCAGGTCCTGATTGTACTCATGGATCTCGGTCATGGCATCCAGCGTGGGGTTGTTGGCCAGCAGCCCACCGTCCAGGAAGCGCCCATTGGGTCGGAAGTAAGTAGGAGCTGCCCCGCTGCTTCGGGCCGCCCGCCACACCAGCTGGTCTAGGGGCGGGGAAGGAGGGCGGCCCAGTGGCACAAGGGACTGGCATAAAACCCATGCACTCCAGATCTCAGGGTGTGCGTGTTGGGGGCTGGGGGTGCGGGAAGAGGGGAGGCTGGGAACTCTTCAGAAGCAGGACCCACGAAGCCACACTCTCTGGCTAGTTCGTCCTGGTGGAAGGCAGGTACAGCTGAGGACTTTCCAGGGACTTTTCTAACCTGCCAGGGGCCTGACAGCTCCCCCGCAATCCCTGTCCTCAGCCAATAAAGACCAGTGCAGCGGGTGGGCTGGTGGCACGGTGAGGGTGCCTGATGGCAAGTGCACGACTCCCACCCACCACCCCACAGCCTCTCGGGCCAGTCGCTTCCCATGGATGCATCAAACATGGTTTAAACCTGAGGGCTGAGCTGGAGGCCTGAGGTTAACGTTCTGGTTGAAACGAGGCTCCCGGACAGTTTCTGGAGCATCGTAGTTCCGGAAGAGGTGGAGTTCAGCCGGCTGCCGGTCAGACAGTGTCCCTGTCAGCATCACCCTGGAGAGAAATGAGGCAGGAGGACGGCTGAGCCACCCGCCCATCCACCTTTCCCTTTCCCCACAATTCACACCCCAGGGCCTTGGGTAGCAGAGTGCCCACTCCAACCTCTGTTCGGGATAGGTGGGCTTCTCCCCGCACCATCCCCGCAAAACAGGCTCTCTCCGGCAGTGCTGGAGGAGTGTCAGATTGGTCCAACCTTGGGGGCACAATTCAGCAAAAGTTGGTTTTTTTGAAAGGCTAATCCAATGGAAAAACCTGTTGCAAGACTGATAAAACATGGCTGTTATCTGTTATCAAAATCAGGAAAGAAAAGGGGGCCGCACCAACACACACTGCAGACGTTAGAAAAAGGAGAATCGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCCCGTCTCTACTAATAATACAAAAATTAGGTGTGGTTGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAAGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGTCATTGCACTCCAGCCTGGGCGATAAGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAACAGAATATTTTGAACAACTCTAAGCCAATAAGCTTAAAGATTTAGATGAAATGGACACATTCCTAGAAAAACCTCACTTAACCAAAACTAACTCAAAAAGGTATTTAGAAACCCCGAGTGGTCAGTCTCACAACCACTATAGAAATTAATTCCATCATCAAAAATCCTCCCACCAAGCAAACTCCAGGCCTAGAAGAATTTACTATCAAGTTCTACCATAAATTCAAAATAAACTATTATACTAACTCTTCCAAGAAAAATAAAAAGAGGAAATATTTCCTCAAAACCCAAAATAGGAAAAAACGGGTCAAGTTCGCCCACGAGCGTGGACACAAAAATCTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGTAGTACAGTGGCGCAATCTCGGCTCACTGCAAGATCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGGTCTTGATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGCGCCTGGCCAAAAATCTTAAACAAAATATGATCAAACTGAACCCATCAGAATTCTCTCTAGAGAAGGCACCAGTAAGAGAGAGTAGGCCTCAAACAGGTATTTGCACATCCGACATTGACAGCAGTCAATTTACAACTAAAATATCCAT
AGCTCCCAGGGGTTGCTGGGACGGAAGACATCCACACAGGTCACAGGCACTTGTGGGGACCTCCCTGTCCCCAGGGAGACAACGATGGAGAGTTTCTTCACCTTGTTGGCCTGACCCTGTTGGGAACAGGACAGGGGCAGTCAGAAGAGACCTTCCACAGGTAGGGGGCACGAAGGGGAGCGTCAAGGGGAGGCCCAAGACTGGGCTCTGGGGCACATGAGAACAGGGCAAGAGGTCTCTGGTGGCAAGAGCATGCCTGGCATGATTTCCAGCCAGCCTCTTGCACGTGACCCCAGAACGGCTGGTGCGGGCATCACATGCCATCTGCTCAGGACAGCATCTGTGTACCAACAGGACCACACATACACCAGCTGCAAGAAGGATCCCGCCCACCCCATCTGATGCTGGCCCAAGTCAAGTCGTGGCCAGGGGAGGAAAGGCAGACGGTGTTCCTTGGTGTTGGTGATTTGCCAGGTATTTGCATCATTACTTCATTTAATCTCCAGCCAGTCTGTGGAGAGGGCACTGATCACCCAGTTTGCAAATGAGGGCTCTCAGCGAAGCTCAGGCCGGGAAGCAGCTGCAGGGGCCACGTGGTAGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGCTGCCTCTCTTATTTGCTTCCGAACAAGCTCTGCTGCCGATTTGCTGGATGATCTTGGGTGATGCCTCCCACTCTGGGTCCCAGGCTCCCCATCCGCACGCAATAGGAGAGTTAGACTGGCTAGTGTCTGACAGTCTGACGGTCTCTGCCGCCTGCAGGAAGCCCGCCCTGCCCGATCTGGCCCCTAGAGGGCGCTTCTCTGTCTGCCCAGAGCCTCTGCTGCGCTGCCCAGGACGCCCTGGGGCTTCGGGAAACCACAGCAGCAAGGATGCAGCTCAGGCTCCCGGCAGTGCTGTGAACATTTCACAGACAACAGCATGCCAAGGCCTCGCAGCCTCCCCAGGCAGGCGCTATGATGGCCCCATTAGGTAGCTGCAGTGAGTGCAGGCAGAACGGGGACCCCCAGAGGCGCCCTGGCTCCAGGGTCTGAGCTCAGCCACCGCGCTCGCCCACCCCGGTCACCCACCGCCCGCCACGCCACAGGGCCTCCCCTAGCATGCTGGGTCCTGCCAGCCTCTGCTGTACCTCTGCAGAGAGAGGGCTGCTGCTCTTCCTCCAGATCACTGATTCTGCACTGCTCTGTCCCCAAGGGCCTCAGGATGGGTCCCCTGTTCCATGGAGCCCTTTCCGAGCCCCCAGGCCTTTTAGCAGAGGCCTCACGGTCCTCCACCACAGCACCGGCAACCCGTGGGGACAGGCATTCCTGTGGGACTGTCTATCCACAGAGGTGAGCTCAAGGGCAAGCATGTGTCCTGTCCCCAGGCTGGCTCGAGTGGCACGTTCATGGTATGCATGCCGCCCTCCCCACTCATGCACACTTAGAGCACAGTGGTCCTCAGATCCCCCTTAGCACAGTGCTTCAGGCAGATCCCACCCATGGAACAGGTTCCAGTGAGATCAATTTGCCCTGTGTGCACATATGAATGAGTGCGTGTGTAAAAGCCACCTGCTGTCCTGGGGGTCGGTCCCTAGCATGGTTTGCTGACACAGGATTGGCTCCAGGGAGCAGTGGGTCCAGGCCCTCTGGCCTACGGCACTCACCTTGCGGATCAGGTCCTGATTGTACTCATGGATCTCGGTCATGGCATCCAGCGTGGGGTTCTTGGCCAGCAGCCCACCGTCCAGGAAGCGCCCATTGGGTCGGAAGTAAGTAGGAGCTGCCCCGCTGCTTCGGGCCGCCCGCCACACCAGCTGGTCTAGGGGCGGGGAAGGAGGGCGGCCCAGTGGCACAAGGGACTGGCATAAAACCCATGCACTCCAGATCTCAGGGTGTGCGTGTTGGGGGCTGGGGGTGCGGGAAGAGGGGAGGCTGGGAACTCTTCAGAAGCAGGACCCACGAAGCCACACTCTCTGGCTAGTTCGTCCTGGTGGAAGGCAGGTACAGCTGAGGACTTTCCAGGGACTTTTCTAACCTGCCAGGGGCCTGACAGCTCCCCCGCAATCCCTGTCCTCAGCCAATAAAGACCAGTGCAGCGGGTGGGCTGGTGGCACGGTGAGGGTGCCTGATGGCAAGTGCACGACTCCCACCCACCACCCCACAGCCTCTCGGGCCAGTCGCTTCCCATGGATGCATCAAACATGGTTTAAACCTGAGGGCTGAGCTGGAGGCCTGAGGTTAACGTTCTGGTTGAAACGAGGCTCCCGGACAGTTTCTGGAGCATCGTAGTTCCGGAAGAGGTGGAGTTCAGCCGGCTGCCGGTCAGACAGTGTCCCTGTCAGCATCACCCTGGAGAGAAATGAGGCAGGAGGACGGCTGAGCCACCCGCCCATCCACCTTTCCCTTTCCCCACAATTCACACCCCAGGGCCTTGGGTAGCAGAGTGCCCACTCCAACCTCTGTTCGGGATAGGTGGGCTTCTCCCCGCACCATCCCCGCAAAACAGGCTCTCTCCGGCAGTGCTGGAGGAGTGTCAGATTGGTCCAACCTTGGGGGCACAATTCAGCAAAAGTTGGTTTTTTTGAAAGGCTAATCCAATGGAAAAACCTGTTGCAAGACTGATAAAACATGGCTGTTATCTGTTATCAAAATCAGGAAAGAAAAGGGGGCCGCACCAACACACACTGCAGACGTTAGAAAAAGGAGAATCGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCCCGTCTCTACTAATAATACAAAAATTAGGTGTGGTTGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAAGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGTCATTGCACTCCAGCCTGGGCGATAAGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAACAGAATATTTTGAACAACTCTAAGCCAATAAGCTTAAAGATTTAGATGAAATGGACACATTCCTAGAAAAACCTCACTTAACCAAAACTAACTCAAAAAGGTATTTAGAAACCCCGAGTGGTCAGTCTCACAACCACTATAGAAATTAATTCCATCATCAAAAATCCTCCCACCAAGCAAACTCCAGGCCTAGAAGAATTTACTATCAAGTTCTACCATAAATTCAAAATAAACTATTATACTAACTCTTCCAAGAAAAATAAAAAGAGGAAATATTTCCTCAAAACCCAAAATAGGAAAAAACGGGTCAAGTTCGCCCACGAGCGTGGACACAAAAATCTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGTAGTACAGTGGCGCAATCTCGGCTCACTGCAAGATCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGGTCTTGATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGCGCCTGGCCAAAAATCTTAAACAAAATATGATCAAACTGAACCCATCAGAATTCTCTCTAGAGAAGGCACCAGTAAGAGAGAGTAGGCCTCAAACAGGTATTTGCACATCCGACATTGACAGCAGTCAATTTACAACTAAAATATCCAT