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_23200
This mutation occurs in PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1) on Chromosome 17. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Lissencephaly due to LIS1 mutation
AAAATTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAAGGCTGAGGCAGGCAAATCACTTTAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACCATCTCAAAAAAAAAAAAAAAAAAACCCGGGCATGGTGGCGCACGTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCTTGAGAATCGTTTGCACCTGGGAGACGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCCCTCCATCCTGGGCAGTGAAGTAAGACTCTGTCTCCAGGAAAAAAAAAGAAAAGAAACAAGAAAAACATACTCTTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGGACTTTGGGAGGCCAAGGCAGGAGGAGCCCAGGAGTTTGAGACCAGCCTGAGCAACATAACAAGACCCTGTCTCTACCAAAATAAAAGTTTAAAAATTAGTCATGCATGATGATGCATGCCTATAGTCCTAGCTACTTGGGAGGCTAAGGCAGGAGGATTACTTGAACCCAGGAATTTGAGGCTTTAGTGAGCCGTGATCATGCCACTATACTCCAGCCTGGGCAACAGAGTTGCTGTCTCTTTTTAAAACAAAACAAAATTTTGCAGTGCTGTGCTATAACTGCACTATCCAGCGTGGTAGCTACTAGCCACATGCAGCTATTATACTCTTGAAATGTGGCTAGTGAGACTGAAGAACTGAATTGTTGGTTGTATGTAATCTTAATATTATATATTAAAGTAGGCGTACATGGACAGTAGCTACCATGTTCAACTGTGCAGTTCTAAGCCTTTTTCTTTAATGTGTAGATGAATGTGCTATTTTTTATAAAAATGGTATCATGCCCCTTAAGGTAGCTTTGTAGCAAACCTTTAATTTAGAAAGTATGTGATCCTTGCTTATGTTGTTAGATGCTCTTCTACACTGATCTACAGACAATGCTTTGTGAACATCTTTGCTAACTAAATCTCTGGGCATGTCCTTAAAGATAAATTGCAAGAACAGAACTGCTGCGACAGGGGAAATATGGATGGATAGATGGATGGATGATTAAATGGATGGATGATTAGATGGATGAATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATAGATGGATGATTGGATGGTTGGATGGATAGATGGATGATTGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGGATGATTAGATGGATGATTAGATGGATGATTGGATGGATAGATAGATGGGTGGGTGGGTGGATGGATGGATGATTGGATGATTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATATATAGATATATAGTGAATGCCTGTATATCCTTCACTTAGTTACCATTTGTTGGTTTTCCTTCATGTATGTGTGTATATTTTGCTGAAATCATTTGAGCGTTCTTTGCAGACATCGTAACACTTTACCCCCAAGTATTTTAGCATGAACCACCTAAGAACAAGGATAGTATATAAATAACCAAAATAAAATTATTCACACTCAAGAAATTTACCATTGATAGACTACATATTGAGATTTGTTCTTGTTATTTCCATAATGCCCTGCGGGACTTCTTTTTAACCCTCATCCAGGACCCAGTCAGGGATCGTACGTTATATTCACTCCTCATGTCTTATGAGTTTTCAGTTTCCTTTAATCTAGAATCCCCTAGACTTTTATTTTCTTCTGGTCTTTTGATGTTTTTGGTATGTATAGTTTTATCGTATTATGAAATAGATGCTATTTAAACATTTTGCCTTTTACTGAGTCAAATAACTTTTTTGTTTTTAAGGTGGGTCATGATAACTGGGTACGTGGAGTTCTGTTCCATTCTGGGGGGAAGTTTATTTTGAGTTGTGCTGATGACAAGACCCTACGCGTATGGGATTACAAGAACAAGCGATGCATGAAGACCCTCAATGCGCATGAACACTTTGTTACCTCCTTGGGTATGTACGCCTCGCGAGGTCTCTGAACATTAGATTTTGGAGTGCCAGACAAACTGTGTTTTACATAATCGTGTGGACTTTGCCAGGTAAGAAATGACTGTGCTTTCAGGGCAGAATAGAGAAGACATGAAAATCTTGTGGATTCCTACCATTTGTTTTAAATTCTCCTTTCCCGTTAACTCTTTCCATCGTTAGCCTTATAATAAAAACATTACTTTCTCCACTGCACAACATTGGTTTTGGAAACCACAATTTGTGAAGAGGTTACTTACCACTCTGATGGGTAATTTTTCTCCCCTATTAGTTTGTTTCTCAAACAAAATCTTCCTCAACCTTTCCCACTGGCAGGTGTATACTATCAGATACTAGAAACTCAGAAAATTGTATTTGATTTGAGTAAACATCCTCACTATCATCTGGACTTGAATCTGGAATTTAAGAGAGTGAATACAGTCAAGTATAATAAATGCACTAAAGTATAATGGACCAAAGCCTGCGTAAGGTGGGCTAATACCTGCCTCACAGGATTGGTTCAAGGATTAGGCACAAATACGGAGCATTTATGCCATGCCTGGAACATCGTGTTCAGTAAATGGATATGGCGAGACTGTGTATTGTTAGATTTGAGCCCTGCTGTGCCTTAGTCCCAGCTACTCAGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGGAGTTCTGGGTTACAGTGTGCTGTGCTGATGGGATGTTTGCACTAAGTGCAGCATCAATATGGTGACCTCCTGGGAACAGGAGACTCCCAGGTTGCCTAAGGAGGGGTGACCTGGCCCAGGTCAGAAACAGAGCAGGTCAAAACTCCCTTGCTGATCAGTAGTGGGATCGCACCTTTGAACAGCCACTGCACTCCAGCCTGGGCAACATAGTGAGACCCTGCCTTTGAAAAAAGAAGAAAAAGGATTTGAGCCCCATTTGGGATGGGCCAAAGAGGAACAGGCGTTTTTATTGAGATGTTAATACAGGATTTGATCATTGAGTCTCAACTTCCCTAACTGAATTGGCAAACTAGATACCTTCTTGGGTTATGGTATATTAGAGAAACACGAAAACTACTGGCATTTGGACTTTCTTAGAATTTTGTGGCTCATTAAAAATTGTATCTGGCTCAGTGTGATGGAGGGTTGGGACCGGGCAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAGTCATGGCTCGCTGCAGCCTCGACTTCCCAGCTCAAACAGTTCTGCATCAGTCTCCCGAGTAGCTGGGACTACAGGCACACACTACCATGCCCGGCTAATTTTTTTTTTAATTTTGTATTTTGTAGAGAGGGGGTCTCACTATGTTTGTTGTCCAGGCTTACGTGTGAGTTTTAAATAAACCATTTCTTTTTCTTTCAGATTTCCACAAGACGGCACCCTATGTCGTCACTGGCAGCGTAGATCAAACAGTAAAAGTGTGGGAGTGCCGTTGATTGTGTCTCCTTCGGCCCCTCCTCCCTCTTTTCCTCTGGATGCACTCTGATGATACCATGGTTACCCCATTGAGCTCTGTTTAAATAAATATTGTCCTTTCATGTAAATTATTCTGGATGTAGATTGAGCTTATTAAATGTTACACACAAAGTATTCATGCATGGTGAATCCAAATTGTATACTGTAAATTTACATACGTTGTCTAGAAGTACCATAGGGTTTAAAAACCTGGGCTGGCATTGGTCACACCAGGCCTAAGAAGGCAGAAGTTGAATCAATTGAACTAGGGCACTAAACTGAATAGTTGACAGTGTCATTTTATGTTGGATTATTAATTCCTGTTTTTCTTTCTGCTATCTGTTGGTGCCTGACTTGATGGCCTCATTTGGGGAAAAGTGGTGGTTATTAGGGCTTTTTCTGAAATGTGTATCTATGTAACATCACTTAAGTGTGCTTAATAAATCTTCTGTAAGGATTTTAGATGATAAGGCTACAATTCAGAATCTTCTGAACCATCTATGTAATGAATGGGGATTATAC
AAAATTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAAGGCTGAGGCAGGCAAATCACTTTAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACCATCTCAAAAAAAAAAAAAAAAAAACCCGGGCATGGTGGCGCACGTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCTTGAGAATCGTTTGCACCTGGGAGACGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCCCTCCATCCTGGGCAGTGAAGTAAGACTCTGTCTCCAGGAAAAAAAAAGAAAAGAAACAAGAAAAACATACTCTTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGGACTTTGGGAGGCCAAGGCAGGAGGAGCCCAGGAGTTTGAGACCAGCCTGAGCAACATAACAAGACCCTGTCTCTACCAAAATAAAAGTTTAAAAATTAGTCATGCATGATGATGCATGCCTATAGTCCTAGCTACTTGGGAGGCTAAGGCAGGAGGATTACTTGAACCCAGGAATTTGAGGCTTTAGTGAGCCGTGATCATGCCACTATACTCCAGCCTGGGCAACAGAGTTGCTGTCTCTTTTTAAAACAAAACAAAATTTTGCAGTGCTGTGCTATAACTGCACTATCCAGCGTGGTAGCTACTAGCCACATGCAGCTATTATACTCTTGAAATGTGGCTAGTGAGACTGAAGAACTGAATTGTTGGTTGTATGTAATCTTAATATTATATATTAAAGTAGGCGTACATGGACAGTAGCTACCATGTTCAACTGTGCAGTTCTAAGCCTTTTTCTTTAATGTGTAGATGAATGTGCTATTTTTTATAAAAATGGTATCATGCCCCTTAAGGTAGCTTTGTAGCAAACCTTTAATTTAGAAAGTATGTGATCCTTGCTTATGTTGTTAGATGCTCTTCTACACTGATCTACAGACAATGCTTTGTGAACATCTTTGCTAACTAAATCTCTGGGCATGTCCTTAAAGATAAATTGCAAGAACAGAACTGCTGCGACAGGGGAAATATGGATGGATAGATGGATGGATGATTAAATGGATGGATGATTAGATGGATGAATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATAGATGGATGATTGGATGGTTGGATGGATAGATGGATGATTGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGGATGATTAGATGGATGATTAGATGGATGATTGGATGGATAGATAGATGGGTGGGTGGGTGGATGGATGGATGATTGGATGATTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATATATAGATATATAGTGAATGCCTGTATATCCTTCACTTAGTTACCATTTGTTGGTTTTCCTTCATGTATGTGTGTATATTTTGCTGAAATCATTTGAGCGTTCTTTGCAGACATCGTAACACTTTACCCCCAAGTATTTTAGCATGAACCACCTAAGAACAAGGATAGTATATAAATAACCAAAATAAAATTATTCACACTCAAGAAATTTACCATTGATAGACTACATATTGAGATTTGTTCTTGTTATTTCCATAATGCCCTGCGGGACTTCTTTTTAACCCTCATCCAGGACCCAGTCAGGGATCGTACGTTATATTCACTCCTCATGTCTTATGAGTTTTCAGTTTCCTTTAATCTAGAATCCCCTAGACTTTTATTTTCTTCTGGTCTTTTGATGTTTTTGGTATGTATAGTTTTATCGTATTATGAAATAGATGCTATTTAAACATTTTGCCTTTTACTGAGTCAAATAACTTTTTTGTTTTTAAGGTGGGTCATGATAACTGGGTACGTGGAGTTCTGTTCCATTCTGGGGGGAAGTTTATTTTGAGTTGTGCTGATGACAAGACCCTACGCGTATGGGATTACAAGAACAAGCGATGCATGAAGACCCTCAATGCGTATGAACACTTTGTTACCTCCTTGGGTATGTACGCCTCGCGAGGTCTCTGAACATTAGATTTTGGAGTGCCAGACAAACTGTGTTTTACATAATCGTGTGGACTTTGCCAGGTAAGAAATGACTGTGCTTTCAGGGCAGAATAGAGAAGACATGAAAATCTTGTGGATTCCTACCATTTGTTTTAAATTCTCCTTTCCCGTTAACTCTTTCCATCGTTAGCCTTATAATAAAAACATTACTTTCTCCACTGCACAACATTGGTTTTGGAAACCACAATTTGTGAAGAGGTTACTTACCACTCTGATGGGTAATTTTTCTCCCCTATTAGTTTGTTTCTCAAACAAAATCTTCCTCAACCTTTCCCACTGGCAGGTGTATACTATCAGATACTAGAAACTCAGAAAATTGTATTTGATTTGAGTAAACATCCTCACTATCATCTGGACTTGAATCTGGAATTTAAGAGAGTGAATACAGTCAAGTATAATAAATGCACTAAAGTATAATGGACCAAAGCCTGCGTAAGGTGGGCTAATACCTGCCTCACAGGATTGGTTCAAGGATTAGGCACAAATACGGAGCATTTATGCCATGCCTGGAACATCGTGTTCAGTAAATGGATATGGCGAGACTGTGTATTGTTAGATTTGAGCCCTGCTGTGCCTTAGTCCCAGCTACTCAGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGGAGTTCTGGGTTACAGTGTGCTGTGCTGATGGGATGTTTGCACTAAGTGCAGCATCAATATGGTGACCTCCTGGGAACAGGAGACTCCCAGGTTGCCTAAGGAGGGGTGACCTGGCCCAGGTCAGAAACAGAGCAGGTCAAAACTCCCTTGCTGATCAGTAGTGGGATCGCACCTTTGAACAGCCACTGCACTCCAGCCTGGGCAACATAGTGAGACCCTGCCTTTGAAAAAAGAAGAAAAAGGATTTGAGCCCCATTTGGGATGGGCCAAAGAGGAACAGGCGTTTTTATTGAGATGTTAATACAGGATTTGATCATTGAGTCTCAACTTCCCTAACTGAATTGGCAAACTAGATACCTTCTTGGGTTATGGTATATTAGAGAAACACGAAAACTACTGGCATTTGGACTTTCTTAGAATTTTGTGGCTCATTAAAAATTGTATCTGGCTCAGTGTGATGGAGGGTTGGGACCGGGCAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAGTCATGGCTCGCTGCAGCCTCGACTTCCCAGCTCAAACAGTTCTGCATCAGTCTCCCGAGTAGCTGGGACTACAGGCACACACTACCATGCCCGGCTAATTTTTTTTTTAATTTTGTATTTTGTAGAGAGGGGGTCTCACTATGTTTGTTGTCCAGGCTTACGTGTGAGTTTTAAATAAACCATTTCTTTTTCTTTCAGATTTCCACAAGACGGCACCCTATGTCGTCACTGGCAGCGTAGATCAAACAGTAAAAGTGTGGGAGTGCCGTTGATTGTGTCTCCTTCGGCCCCTCCTCCCTCTTTTCCTCTGGATGCACTCTGATGATACCATGGTTACCCCATTGAGCTCTGTTTAAATAAATATTGTCCTTTCATGTAAATTATTCTGGATGTAGATTGAGCTTATTAAATGTTACACACAAAGTATTCATGCATGGTGAATCCAAATTGTATACTGTAAATTTACATACGTTGTCTAGAAGTACCATAGGGTTTAAAAACCTGGGCTGGCATTGGTCACACCAGGCCTAAGAAGGCAGAAGTTGAATCAATTGAACTAGGGCACTAAACTGAATAGTTGACAGTGTCATTTTATGTTGGATTATTAATTCCTGTTTTTCTTTCTGCTATCTGTTGGTGCCTGACTTGATGGCCTCATTTGGGGAAAAGTGGTGGTTATTAGGGCTTTTTCTGAAATGTGTATCTATGTAACATCACTTAAGTGTGCTTAATAAATCTTCTGTAAGGATTTTAGATGATAAGGCTACAATTCAGAATCTTCTGAACCATCTATGTAATGAATGGGGATTATAC
Task1_train_23201
Given a variant located on Chromosome 17 and affecting PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Lissencephaly due to LIS1 mutation
AAATTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAAGGCTGAGGCAGGCAAATCACTTTAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACCATCTCAAAAAAAAAAAAAAAAAAACCCGGGCATGGTGGCGCACGTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCTTGAGAATCGTTTGCACCTGGGAGACGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCCCTCCATCCTGGGCAGTGAAGTAAGACTCTGTCTCCAGGAAAAAAAAAGAAAAGAAACAAGAAAAACATACTCTTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGGACTTTGGGAGGCCAAGGCAGGAGGAGCCCAGGAGTTTGAGACCAGCCTGAGCAACATAACAAGACCCTGTCTCTACCAAAATAAAAGTTTAAAAATTAGTCATGCATGATGATGCATGCCTATAGTCCTAGCTACTTGGGAGGCTAAGGCAGGAGGATTACTTGAACCCAGGAATTTGAGGCTTTAGTGAGCCGTGATCATGCCACTATACTCCAGCCTGGGCAACAGAGTTGCTGTCTCTTTTTAAAACAAAACAAAATTTTGCAGTGCTGTGCTATAACTGCACTATCCAGCGTGGTAGCTACTAGCCACATGCAGCTATTATACTCTTGAAATGTGGCTAGTGAGACTGAAGAACTGAATTGTTGGTTGTATGTAATCTTAATATTATATATTAAAGTAGGCGTACATGGACAGTAGCTACCATGTTCAACTGTGCAGTTCTAAGCCTTTTTCTTTAATGTGTAGATGAATGTGCTATTTTTTATAAAAATGGTATCATGCCCCTTAAGGTAGCTTTGTAGCAAACCTTTAATTTAGAAAGTATGTGATCCTTGCTTATGTTGTTAGATGCTCTTCTACACTGATCTACAGACAATGCTTTGTGAACATCTTTGCTAACTAAATCTCTGGGCATGTCCTTAAAGATAAATTGCAAGAACAGAACTGCTGCGACAGGGGAAATATGGATGGATAGATGGATGGATGATTAAATGGATGGATGATTAGATGGATGAATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATAGATGGATGATTGGATGGTTGGATGGATAGATGGATGATTGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGGATGATTAGATGGATGATTAGATGGATGATTGGATGGATAGATAGATGGGTGGGTGGGTGGATGGATGGATGATTGGATGATTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATATATAGATATATAGTGAATGCCTGTATATCCTTCACTTAGTTACCATTTGTTGGTTTTCCTTCATGTATGTGTGTATATTTTGCTGAAATCATTTGAGCGTTCTTTGCAGACATCGTAACACTTTACCCCCAAGTATTTTAGCATGAACCACCTAAGAACAAGGATAGTATATAAATAACCAAAATAAAATTATTCACACTCAAGAAATTTACCATTGATAGACTACATATTGAGATTTGTTCTTGTTATTTCCATAATGCCCTGCGGGACTTCTTTTTAACCCTCATCCAGGACCCAGTCAGGGATCGTACGTTATATTCACTCCTCATGTCTTATGAGTTTTCAGTTTCCTTTAATCTAGAATCCCCTAGACTTTTATTTTCTTCTGGTCTTTTGATGTTTTTGGTATGTATAGTTTTATCGTATTATGAAATAGATGCTATTTAAACATTTTGCCTTTTACTGAGTCAAATAACTTTTTTGTTTTTAAGGTGGGTCATGATAACTGGGTACGTGGAGTTCTGTTCCATTCTGGGGGGAAGTTTATTTTGAGTTGTGCTGATGACAAGACCCTACGCGTATGGGATTACAAGAACAAGCGATGCATGAAGACCCTCAATGCGCATGAACACTTTGTTACCTCCTTGGGTATGTACGCCTCGCGAGGTCTCTGAACATTAGATTTTGGAGTGCCAGACAAACTGTGTTTTACATAATCGTGTGGACTTTGCCAGGTAAGAAATGACTGTGCTTTCAGGGCAGAATAGAGAAGACATGAAAATCTTGTGGATTCCTACCATTTGTTTTAAATTCTCCTTTCCCGTTAACTCTTTCCATCGTTAGCCTTATAATAAAAACATTACTTTCTCCACTGCACAACATTGGTTTTGGAAACCACAATTTGTGAAGAGGTTACTTACCACTCTGATGGGTAATTTTTCTCCCCTATTAGTTTGTTTCTCAAACAAAATCTTCCTCAACCTTTCCCACTGGCAGGTGTATACTATCAGATACTAGAAACTCAGAAAATTGTATTTGATTTGAGTAAACATCCTCACTATCATCTGGACTTGAATCTGGAATTTAAGAGAGTGAATACAGTCAAGTATAATAAATGCACTAAAGTATAATGGACCAAAGCCTGCGTAAGGTGGGCTAATACCTGCCTCACAGGATTGGTTCAAGGATTAGGCACAAATACGGAGCATTTATGCCATGCCTGGAACATCGTGTTCAGTAAATGGATATGGCGAGACTGTGTATTGTTAGATTTGAGCCCTGCTGTGCCTTAGTCCCAGCTACTCAGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGGAGTTCTGGGTTACAGTGTGCTGTGCTGATGGGATGTTTGCACTAAGTGCAGCATCAATATGGTGACCTCCTGGGAACAGGAGACTCCCAGGTTGCCTAAGGAGGGGTGACCTGGCCCAGGTCAGAAACAGAGCAGGTCAAAACTCCCTTGCTGATCAGTAGTGGGATCGCACCTTTGAACAGCCACTGCACTCCAGCCTGGGCAACATAGTGAGACCCTGCCTTTGAAAAAAGAAGAAAAAGGATTTGAGCCCCATTTGGGATGGGCCAAAGAGGAACAGGCGTTTTTATTGAGATGTTAATACAGGATTTGATCATTGAGTCTCAACTTCCCTAACTGAATTGGCAAACTAGATACCTTCTTGGGTTATGGTATATTAGAGAAACACGAAAACTACTGGCATTTGGACTTTCTTAGAATTTTGTGGCTCATTAAAAATTGTATCTGGCTCAGTGTGATGGAGGGTTGGGACCGGGCAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAGTCATGGCTCGCTGCAGCCTCGACTTCCCAGCTCAAACAGTTCTGCATCAGTCTCCCGAGTAGCTGGGACTACAGGCACACACTACCATGCCCGGCTAATTTTTTTTTTAATTTTGTATTTTGTAGAGAGGGGGTCTCACTATGTTTGTTGTCCAGGCTTACGTGTGAGTTTTAAATAAACCATTTCTTTTTCTTTCAGATTTCCACAAGACGGCACCCTATGTCGTCACTGGCAGCGTAGATCAAACAGTAAAAGTGTGGGAGTGCCGTTGATTGTGTCTCCTTCGGCCCCTCCTCCCTCTTTTCCTCTGGATGCACTCTGATGATACCATGGTTACCCCATTGAGCTCTGTTTAAATAAATATTGTCCTTTCATGTAAATTATTCTGGATGTAGATTGAGCTTATTAAATGTTACACACAAAGTATTCATGCATGGTGAATCCAAATTGTATACTGTAAATTTACATACGTTGTCTAGAAGTACCATAGGGTTTAAAAACCTGGGCTGGCATTGGTCACACCAGGCCTAAGAAGGCAGAAGTTGAATCAATTGAACTAGGGCACTAAACTGAATAGTTGACAGTGTCATTTTATGTTGGATTATTAATTCCTGTTTTTCTTTCTGCTATCTGTTGGTGCCTGACTTGATGGCCTCATTTGGGGAAAAGTGGTGGTTATTAGGGCTTTTTCTGAAATGTGTATCTATGTAACATCACTTAAGTGTGCTTAATAAATCTTCTGTAAGGATTTTAGATGATAAGGCTACAATTCAGAATCTTCTGAACCATCTATGTAATGAATGGGGATTATACA
AAATTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAAGGCTGAGGCAGGCAAATCACTTTAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACCATCTCAAAAAAAAAAAAAAAAAAACCCGGGCATGGTGGCGCACGTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCTTGAGAATCGTTTGCACCTGGGAGACGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCCCTCCATCCTGGGCAGTGAAGTAAGACTCTGTCTCCAGGAAAAAAAAAGAAAAGAAACAAGAAAAACATACTCTTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGGACTTTGGGAGGCCAAGGCAGGAGGAGCCCAGGAGTTTGAGACCAGCCTGAGCAACATAACAAGACCCTGTCTCTACCAAAATAAAAGTTTAAAAATTAGTCATGCATGATGATGCATGCCTATAGTCCTAGCTACTTGGGAGGCTAAGGCAGGAGGATTACTTGAACCCAGGAATTTGAGGCTTTAGTGAGCCGTGATCATGCCACTATACTCCAGCCTGGGCAACAGAGTTGCTGTCTCTTTTTAAAACAAAACAAAATTTTGCAGTGCTGTGCTATAACTGCACTATCCAGCGTGGTAGCTACTAGCCACATGCAGCTATTATACTCTTGAAATGTGGCTAGTGAGACTGAAGAACTGAATTGTTGGTTGTATGTAATCTTAATATTATATATTAAAGTAGGCGTACATGGACAGTAGCTACCATGTTCAACTGTGCAGTTCTAAGCCTTTTTCTTTAATGTGTAGATGAATGTGCTATTTTTTATAAAAATGGTATCATGCCCCTTAAGGTAGCTTTGTAGCAAACCTTTAATTTAGAAAGTATGTGATCCTTGCTTATGTTGTTAGATGCTCTTCTACACTGATCTACAGACAATGCTTTGTGAACATCTTTGCTAACTAAATCTCTGGGCATGTCCTTAAAGATAAATTGCAAGAACAGAACTGCTGCGACAGGGGAAATATGGATGGATAGATGGATGGATGATTAAATGGATGGATGATTAGATGGATGAATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATAGATGGATGATTGGATGGTTGGATGGATAGATGGATGATTGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGGATGATTAGATGGATGATTAGATGGATGATTGGATGGATAGATAGATGGGTGGGTGGGTGGATGGATGGATGATTGGATGATTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATATATAGATATATAGTGAATGCCTGTATATCCTTCACTTAGTTACCATTTGTTGGTTTTCCTTCATGTATGTGTGTATATTTTGCTGAAATCATTTGAGCGTTCTTTGCAGACATCGTAACACTTTACCCCCAAGTATTTTAGCATGAACCACCTAAGAACAAGGATAGTATATAAATAACCAAAATAAAATTATTCACACTCAAGAAATTTACCATTGATAGACTACATATTGAGATTTGTTCTTGTTATTTCCATAATGCCCTGCGGGACTTCTTTTTAACCCTCATCCAGGACCCAGTCAGGGATCGTACGTTATATTCACTCCTCATGTCTTATGAGTTTTCAGTTTCCTTTAATCTAGAATCCCCTAGACTTTTATTTTCTTCTGGTCTTTTGATGTTTTTGGTATGTATAGTTTTATCGTATTATGAAATAGATGCTATTTAAACATTTTGCCTTTTACTGAGTCAAATAACTTTTTTGTTTTTAAGGTGGGTCATGATAACTGGGTACGTGGAGTTCTGTTCCATTCTGGGGGGAAGTTTATTTTGAGTTGTGCTGATGACAAGACCCTACGCGTATGGGATTACAAGAACAAGCGATGCATGAAGACCCTCAATGCGCGTGAACACTTTGTTACCTCCTTGGGTATGTACGCCTCGCGAGGTCTCTGAACATTAGATTTTGGAGTGCCAGACAAACTGTGTTTTACATAATCGTGTGGACTTTGCCAGGTAAGAAATGACTGTGCTTTCAGGGCAGAATAGAGAAGACATGAAAATCTTGTGGATTCCTACCATTTGTTTTAAATTCTCCTTTCCCGTTAACTCTTTCCATCGTTAGCCTTATAATAAAAACATTACTTTCTCCACTGCACAACATTGGTTTTGGAAACCACAATTTGTGAAGAGGTTACTTACCACTCTGATGGGTAATTTTTCTCCCCTATTAGTTTGTTTCTCAAACAAAATCTTCCTCAACCTTTCCCACTGGCAGGTGTATACTATCAGATACTAGAAACTCAGAAAATTGTATTTGATTTGAGTAAACATCCTCACTATCATCTGGACTTGAATCTGGAATTTAAGAGAGTGAATACAGTCAAGTATAATAAATGCACTAAAGTATAATGGACCAAAGCCTGCGTAAGGTGGGCTAATACCTGCCTCACAGGATTGGTTCAAGGATTAGGCACAAATACGGAGCATTTATGCCATGCCTGGAACATCGTGTTCAGTAAATGGATATGGCGAGACTGTGTATTGTTAGATTTGAGCCCTGCTGTGCCTTAGTCCCAGCTACTCAGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGGAGTTCTGGGTTACAGTGTGCTGTGCTGATGGGATGTTTGCACTAAGTGCAGCATCAATATGGTGACCTCCTGGGAACAGGAGACTCCCAGGTTGCCTAAGGAGGGGTGACCTGGCCCAGGTCAGAAACAGAGCAGGTCAAAACTCCCTTGCTGATCAGTAGTGGGATCGCACCTTTGAACAGCCACTGCACTCCAGCCTGGGCAACATAGTGAGACCCTGCCTTTGAAAAAAGAAGAAAAAGGATTTGAGCCCCATTTGGGATGGGCCAAAGAGGAACAGGCGTTTTTATTGAGATGTTAATACAGGATTTGATCATTGAGTCTCAACTTCCCTAACTGAATTGGCAAACTAGATACCTTCTTGGGTTATGGTATATTAGAGAAACACGAAAACTACTGGCATTTGGACTTTCTTAGAATTTTGTGGCTCATTAAAAATTGTATCTGGCTCAGTGTGATGGAGGGTTGGGACCGGGCAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAGTCATGGCTCGCTGCAGCCTCGACTTCCCAGCTCAAACAGTTCTGCATCAGTCTCCCGAGTAGCTGGGACTACAGGCACACACTACCATGCCCGGCTAATTTTTTTTTTAATTTTGTATTTTGTAGAGAGGGGGTCTCACTATGTTTGTTGTCCAGGCTTACGTGTGAGTTTTAAATAAACCATTTCTTTTTCTTTCAGATTTCCACAAGACGGCACCCTATGTCGTCACTGGCAGCGTAGATCAAACAGTAAAAGTGTGGGAGTGCCGTTGATTGTGTCTCCTTCGGCCCCTCCTCCCTCTTTTCCTCTGGATGCACTCTGATGATACCATGGTTACCCCATTGAGCTCTGTTTAAATAAATATTGTCCTTTCATGTAAATTATTCTGGATGTAGATTGAGCTTATTAAATGTTACACACAAAGTATTCATGCATGGTGAATCCAAATTGTATACTGTAAATTTACATACGTTGTCTAGAAGTACCATAGGGTTTAAAAACCTGGGCTGGCATTGGTCACACCAGGCCTAAGAAGGCAGAAGTTGAATCAATTGAACTAGGGCACTAAACTGAATAGTTGACAGTGTCATTTTATGTTGGATTATTAATTCCTGTTTTTCTTTCTGCTATCTGTTGGTGCCTGACTTGATGGCCTCATTTGGGGAAAAGTGGTGGTTATTAGGGCTTTTTCTGAAATGTGTATCTATGTAACATCACTTAAGTGTGCTTAATAAATCTTCTGTAAGGATTTTAGATGATAAGGCTACAATTCAGAATCTTCTGAACCATCTATGTAATGAATGGGGATTATACA
Task1_train_23202
The gene PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Lissencephaly due to LIS1 mutation
ATGCCTGTAATCCCAGCTACTTGGGAAGGCTGAGGCAGGCAAATCACTTTAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACCATCTCAAAAAAAAAAAAAAAAAAACCCGGGCATGGTGGCGCACGTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCTTGAGAATCGTTTGCACCTGGGAGACGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCCCTCCATCCTGGGCAGTGAAGTAAGACTCTGTCTCCAGGAAAAAAAAAGAAAAGAAACAAGAAAAACATACTCTTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGGACTTTGGGAGGCCAAGGCAGGAGGAGCCCAGGAGTTTGAGACCAGCCTGAGCAACATAACAAGACCCTGTCTCTACCAAAATAAAAGTTTAAAAATTAGTCATGCATGATGATGCATGCCTATAGTCCTAGCTACTTGGGAGGCTAAGGCAGGAGGATTACTTGAACCCAGGAATTTGAGGCTTTAGTGAGCCGTGATCATGCCACTATACTCCAGCCTGGGCAACAGAGTTGCTGTCTCTTTTTAAAACAAAACAAAATTTTGCAGTGCTGTGCTATAACTGCACTATCCAGCGTGGTAGCTACTAGCCACATGCAGCTATTATACTCTTGAAATGTGGCTAGTGAGACTGAAGAACTGAATTGTTGGTTGTATGTAATCTTAATATTATATATTAAAGTAGGCGTACATGGACAGTAGCTACCATGTTCAACTGTGCAGTTCTAAGCCTTTTTCTTTAATGTGTAGATGAATGTGCTATTTTTTATAAAAATGGTATCATGCCCCTTAAGGTAGCTTTGTAGCAAACCTTTAATTTAGAAAGTATGTGATCCTTGCTTATGTTGTTAGATGCTCTTCTACACTGATCTACAGACAATGCTTTGTGAACATCTTTGCTAACTAAATCTCTGGGCATGTCCTTAAAGATAAATTGCAAGAACAGAACTGCTGCGACAGGGGAAATATGGATGGATAGATGGATGGATGATTAAATGGATGGATGATTAGATGGATGAATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATAGATGGATGATTGGATGGTTGGATGGATAGATGGATGATTGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGGATGATTAGATGGATGATTAGATGGATGATTGGATGGATAGATAGATGGGTGGGTGGGTGGATGGATGGATGATTGGATGATTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATATATAGATATATAGTGAATGCCTGTATATCCTTCACTTAGTTACCATTTGTTGGTTTTCCTTCATGTATGTGTGTATATTTTGCTGAAATCATTTGAGCGTTCTTTGCAGACATCGTAACACTTTACCCCCAAGTATTTTAGCATGAACCACCTAAGAACAAGGATAGTATATAAATAACCAAAATAAAATTATTCACACTCAAGAAATTTACCATTGATAGACTACATATTGAGATTTGTTCTTGTTATTTCCATAATGCCCTGCGGGACTTCTTTTTAACCCTCATCCAGGACCCAGTCAGGGATCGTACGTTATATTCACTCCTCATGTCTTATGAGTTTTCAGTTTCCTTTAATCTAGAATCCCCTAGACTTTTATTTTCTTCTGGTCTTTTGATGTTTTTGGTATGTATAGTTTTATCGTATTATGAAATAGATGCTATTTAAACATTTTGCCTTTTACTGAGTCAAATAACTTTTTTGTTTTTAAGGTGGGTCATGATAACTGGGTACGTGGAGTTCTGTTCCATTCTGGGGGGAAGTTTATTTTGAGTTGTGCTGATGACAAGACCCTACGCGTATGGGATTACAAGAACAAGCGATGCATGAAGACCCTCAATGCGCATGAACACTTTGTTACCTCCTTGGGTATGTACGCCTCGCGAGGTCTCTGAACATTAGATTTTGGAGTGCCAGACAAACTGTGTTTTACATAATCGTGTGGACTTTGCCAGGTAAGAAATGACTGTGCTTTCAGGGCAGAATAGAGAAGACATGAAAATCTTGTGGATTCCTACCATTTGTTTTAAATTCTCCTTTCCCGTTAACTCTTTCCATCGTTAGCCTTATAATAAAAACATTACTTTCTCCACTGCACAACATTGGTTTTGGAAACCACAATTTGTGAAGAGGTTACTTACCACTCTGATGGGTAATTTTTCTCCCCTATTAGTTTGTTTCTCAAACAAAATCTTCCTCAACCTTTCCCACTGGCAGGTGTATACTATCAGATACTAGAAACTCAGAAAATTGTATTTGATTTGAGTAAACATCCTCACTATCATCTGGACTTGAATCTGGAATTTAAGAGAGTGAATACAGTCAAGTATAATAAATGCACTAAAGTATAATGGACCAAAGCCTGCGTAAGGTGGGCTAATACCTGCCTCACAGGATTGGTTCAAGGATTAGGCACAAATACGGAGCATTTATGCCATGCCTGGAACATCGTGTTCAGTAAATGGATATGGCGAGACTGTGTATTGTTAGATTTGAGCCCTGCTGTGCCTTAGTCCCAGCTACTCAGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGGAGTTCTGGGTTACAGTGTGCTGTGCTGATGGGATGTTTGCACTAAGTGCAGCATCAATATGGTGACCTCCTGGGAACAGGAGACTCCCAGGTTGCCTAAGGAGGGGTGACCTGGCCCAGGTCAGAAACAGAGCAGGTCAAAACTCCCTTGCTGATCAGTAGTGGGATCGCACCTTTGAACAGCCACTGCACTCCAGCCTGGGCAACATAGTGAGACCCTGCCTTTGAAAAAAGAAGAAAAAGGATTTGAGCCCCATTTGGGATGGGCCAAAGAGGAACAGGCGTTTTTATTGAGATGTTAATACAGGATTTGATCATTGAGTCTCAACTTCCCTAACTGAATTGGCAAACTAGATACCTTCTTGGGTTATGGTATATTAGAGAAACACGAAAACTACTGGCATTTGGACTTTCTTAGAATTTTGTGGCTCATTAAAAATTGTATCTGGCTCAGTGTGATGGAGGGTTGGGACCGGGCAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAGTCATGGCTCGCTGCAGCCTCGACTTCCCAGCTCAAACAGTTCTGCATCAGTCTCCCGAGTAGCTGGGACTACAGGCACACACTACCATGCCCGGCTAATTTTTTTTTTAATTTTGTATTTTGTAGAGAGGGGGTCTCACTATGTTTGTTGTCCAGGCTTACGTGTGAGTTTTAAATAAACCATTTCTTTTTCTTTCAGATTTCCACAAGACGGCACCCTATGTCGTCACTGGCAGCGTAGATCAAACAGTAAAAGTGTGGGAGTGCCGTTGATTGTGTCTCCTTCGGCCCCTCCTCCCTCTTTTCCTCTGGATGCACTCTGATGATACCATGGTTACCCCATTGAGCTCTGTTTAAATAAATATTGTCCTTTCATGTAAATTATTCTGGATGTAGATTGAGCTTATTAAATGTTACACACAAAGTATTCATGCATGGTGAATCCAAATTGTATACTGTAAATTTACATACGTTGTCTAGAAGTACCATAGGGTTTAAAAACCTGGGCTGGCATTGGTCACACCAGGCCTAAGAAGGCAGAAGTTGAATCAATTGAACTAGGGCACTAAACTGAATAGTTGACAGTGTCATTTTATGTTGGATTATTAATTCCTGTTTTTCTTTCTGCTATCTGTTGGTGCCTGACTTGATGGCCTCATTTGGGGAAAAGTGGTGGTTATTAGGGCTTTTTCTGAAATGTGTATCTATGTAACATCACTTAAGTGTGCTTAATAAATCTTCTGTAAGGATTTTAGATGATAAGGCTACAATTCAGAATCTTCTGAACCATCTATGTAATGAATGGGGATTATACATTGGAATTTTTGTCATGACACAT
ATGCCTGTAATCCCAGCTACTTGGGAAGGCTGAGGCAGGCAAATCACTTTAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACCATCTCAAAAAAAAAAAAAAAAAAACCCGGGCATGGTGGCGCACGTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCTTGAGAATCGTTTGCACCTGGGAGACGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCCCTCCATCCTGGGCAGTGAAGTAAGACTCTGTCTCCAGGAAAAAAAAAGAAAAGAAACAAGAAAAACATACTCTTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGGACTTTGGGAGGCCAAGGCAGGAGGAGCCCAGGAGTTTGAGACCAGCCTGAGCAACATAACAAGACCCTGTCTCTACCAAAATAAAAGTTTAAAAATTAGTCATGCATGATGATGCATGCCTATAGTCCTAGCTACTTGGGAGGCTAAGGCAGGAGGATTACTTGAACCCAGGAATTTGAGGCTTTAGTGAGCCGTGATCATGCCACTATACTCCAGCCTGGGCAACAGAGTTGCTGTCTCTTTTTAAAACAAAACAAAATTTTGCAGTGCTGTGCTATAACTGCACTATCCAGCGTGGTAGCTACTAGCCACATGCAGCTATTATACTCTTGAAATGTGGCTAGTGAGACTGAAGAACTGAATTGTTGGTTGTATGTAATCTTAATATTATATATTAAAGTAGGCGTACATGGACAGTAGCTACCATGTTCAACTGTGCAGTTCTAAGCCTTTTTCTTTAATGTGTAGATGAATGTGCTATTTTTTATAAAAATGGTATCATGCCCCTTAAGGTAGCTTTGTAGCAAACCTTTAATTTAGAAAGTATGTGATCCTTGCTTATGTTGTTAGATGCTCTTCTACACTGATCTACAGACAATGCTTTGTGAACATCTTTGCTAACTAAATCTCTGGGCATGTCCTTAAAGATAAATTGCAAGAACAGAACTGCTGCGACAGGGGAAATATGGATGGATAGATGGATGGATGATTAAATGGATGGATGATTAGATGGATGAATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATAGATGGATGATTGGATGGTTGGATGGATAGATGGATGATTGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGGATGATTAGATGGATGATTAGATGGATGATTGGATGGATAGATAGATGGGTGGGTGGGTGGATGGATGGATGATTGGATGATTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATATATAGATATATAGTGAATGCCTGTATATCCTTCACTTAGTTACCATTTGTTGGTTTTCCTTCATGTATGTGTGTATATTTTGCTGAAATCATTTGAGCGTTCTTTGCAGACATCGTAACACTTTACCCCCAAGTATTTTAGCATGAACCACCTAAGAACAAGGATAGTATATAAATAACCAAAATAAAATTATTCACACTCAAGAAATTTACCATTGATAGACTACATATTGAGATTTGTTCTTGTTATTTCCATAATGCCCTGCGGGACTTCTTTTTAACCCTCATCCAGGACCCAGTCAGGGATCGTACGTTATATTCACTCCTCATGTCTTATGAGTTTTCAGTTTCCTTTAATCTAGAATCCCCTAGACTTTTATTTTCTTCTGGTCTTTTGATGTTTTTGGTATGTATAGTTTTATCGTATTATGAAATAGATGCTATTTAAACATTTTGCCTTTTACTGAGTCAAATAACTTTTTTGTTTTTAAGGTGGGTCATGATAACTGGGTACGTGGAGTTCTGTTCCATTCTGGGGGGAAGTTTATTTTGAGTTGTGCTGATGACAAGACCCTACGCGTATGGGATTACAAGAACAAGCGATGCATGAAGACCCTCAATGCGCATGAACACTTTGTTACCTCCTTGTGTATGTACGCCTCGCGAGGTCTCTGAACATTAGATTTTGGAGTGCCAGACAAACTGTGTTTTACATAATCGTGTGGACTTTGCCAGGTAAGAAATGACTGTGCTTTCAGGGCAGAATAGAGAAGACATGAAAATCTTGTGGATTCCTACCATTTGTTTTAAATTCTCCTTTCCCGTTAACTCTTTCCATCGTTAGCCTTATAATAAAAACATTACTTTCTCCACTGCACAACATTGGTTTTGGAAACCACAATTTGTGAAGAGGTTACTTACCACTCTGATGGGTAATTTTTCTCCCCTATTAGTTTGTTTCTCAAACAAAATCTTCCTCAACCTTTCCCACTGGCAGGTGTATACTATCAGATACTAGAAACTCAGAAAATTGTATTTGATTTGAGTAAACATCCTCACTATCATCTGGACTTGAATCTGGAATTTAAGAGAGTGAATACAGTCAAGTATAATAAATGCACTAAAGTATAATGGACCAAAGCCTGCGTAAGGTGGGCTAATACCTGCCTCACAGGATTGGTTCAAGGATTAGGCACAAATACGGAGCATTTATGCCATGCCTGGAACATCGTGTTCAGTAAATGGATATGGCGAGACTGTGTATTGTTAGATTTGAGCCCTGCTGTGCCTTAGTCCCAGCTACTCAGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGGAGTTCTGGGTTACAGTGTGCTGTGCTGATGGGATGTTTGCACTAAGTGCAGCATCAATATGGTGACCTCCTGGGAACAGGAGACTCCCAGGTTGCCTAAGGAGGGGTGACCTGGCCCAGGTCAGAAACAGAGCAGGTCAAAACTCCCTTGCTGATCAGTAGTGGGATCGCACCTTTGAACAGCCACTGCACTCCAGCCTGGGCAACATAGTGAGACCCTGCCTTTGAAAAAAGAAGAAAAAGGATTTGAGCCCCATTTGGGATGGGCCAAAGAGGAACAGGCGTTTTTATTGAGATGTTAATACAGGATTTGATCATTGAGTCTCAACTTCCCTAACTGAATTGGCAAACTAGATACCTTCTTGGGTTATGGTATATTAGAGAAACACGAAAACTACTGGCATTTGGACTTTCTTAGAATTTTGTGGCTCATTAAAAATTGTATCTGGCTCAGTGTGATGGAGGGTTGGGACCGGGCAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAGTCATGGCTCGCTGCAGCCTCGACTTCCCAGCTCAAACAGTTCTGCATCAGTCTCCCGAGTAGCTGGGACTACAGGCACACACTACCATGCCCGGCTAATTTTTTTTTTAATTTTGTATTTTGTAGAGAGGGGGTCTCACTATGTTTGTTGTCCAGGCTTACGTGTGAGTTTTAAATAAACCATTTCTTTTTCTTTCAGATTTCCACAAGACGGCACCCTATGTCGTCACTGGCAGCGTAGATCAAACAGTAAAAGTGTGGGAGTGCCGTTGATTGTGTCTCCTTCGGCCCCTCCTCCCTCTTTTCCTCTGGATGCACTCTGATGATACCATGGTTACCCCATTGAGCTCTGTTTAAATAAATATTGTCCTTTCATGTAAATTATTCTGGATGTAGATTGAGCTTATTAAATGTTACACACAAAGTATTCATGCATGGTGAATCCAAATTGTATACTGTAAATTTACATACGTTGTCTAGAAGTACCATAGGGTTTAAAAACCTGGGCTGGCATTGGTCACACCAGGCCTAAGAAGGCAGAAGTTGAATCAATTGAACTAGGGCACTAAACTGAATAGTTGACAGTGTCATTTTATGTTGGATTATTAATTCCTGTTTTTCTTTCTGCTATCTGTTGGTGCCTGACTTGATGGCCTCATTTGGGGAAAAGTGGTGGTTATTAGGGCTTTTTCTGAAATGTGTATCTATGTAACATCACTTAAGTGTGCTTAATAAATCTTCTGTAAGGATTTTAGATGATAAGGCTACAATTCAGAATCTTCTGAACCATCTATGTAATGAATGGGGATTATACATTGGAATTTTTGTCATGACACAT
Task1_train_23203
This genomic variant is located on Chromosome 17, within the PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Lissencephaly due to LIS1 mutation
TGAATGCCTGTATATCCTTCACTTAGTTACCATTTGTTGGTTTTCCTTCATGTATGTGTGTATATTTTGCTGAAATCATTTGAGCGTTCTTTGCAGACATCGTAACACTTTACCCCCAAGTATTTTAGCATGAACCACCTAAGAACAAGGATAGTATATAAATAACCAAAATAAAATTATTCACACTCAAGAAATTTACCATTGATAGACTACATATTGAGATTTGTTCTTGTTATTTCCATAATGCCCTGCGGGACTTCTTTTTAACCCTCATCCAGGACCCAGTCAGGGATCGTACGTTATATTCACTCCTCATGTCTTATGAGTTTTCAGTTTCCTTTAATCTAGAATCCCCTAGACTTTTATTTTCTTCTGGTCTTTTGATGTTTTTGGTATGTATAGTTTTATCGTATTATGAAATAGATGCTATTTAAACATTTTGCCTTTTACTGAGTCAAATAACTTTTTTGTTTTTAAGGTGGGTCATGATAACTGGGTACGTGGAGTTCTGTTCCATTCTGGGGGGAAGTTTATTTTGAGTTGTGCTGATGACAAGACCCTACGCGTATGGGATTACAAGAACAAGCGATGCATGAAGACCCTCAATGCGCATGAACACTTTGTTACCTCCTTGGGTATGTACGCCTCGCGAGGTCTCTGAACATTAGATTTTGGAGTGCCAGACAAACTGTGTTTTACATAATCGTGTGGACTTTGCCAGGTAAGAAATGACTGTGCTTTCAGGGCAGAATAGAGAAGACATGAAAATCTTGTGGATTCCTACCATTTGTTTTAAATTCTCCTTTCCCGTTAACTCTTTCCATCGTTAGCCTTATAATAAAAACATTACTTTCTCCACTGCACAACATTGGTTTTGGAAACCACAATTTGTGAAGAGGTTACTTACCACTCTGATGGGTAATTTTTCTCCCCTATTAGTTTGTTTCTCAAACAAAATCTTCCTCAACCTTTCCCACTGGCAGGTGTATACTATCAGATACTAGAAACTCAGAAAATTGTATTTGATTTGAGTAAACATCCTCACTATCATCTGGACTTGAATCTGGAATTTAAGAGAGTGAATACAGTCAAGTATAATAAATGCACTAAAGTATAATGGACCAAAGCCTGCGTAAGGTGGGCTAATACCTGCCTCACAGGATTGGTTCAAGGATTAGGCACAAATACGGAGCATTTATGCCATGCCTGGAACATCGTGTTCAGTAAATGGATATGGCGAGACTGTGTATTGTTAGATTTGAGCCCTGCTGTGCCTTAGTCCCAGCTACTCAGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGGAGTTCTGGGTTACAGTGTGCTGTGCTGATGGGATGTTTGCACTAAGTGCAGCATCAATATGGTGACCTCCTGGGAACAGGAGACTCCCAGGTTGCCTAAGGAGGGGTGACCTGGCCCAGGTCAGAAACAGAGCAGGTCAAAACTCCCTTGCTGATCAGTAGTGGGATCGCACCTTTGAACAGCCACTGCACTCCAGCCTGGGCAACATAGTGAGACCCTGCCTTTGAAAAAAGAAGAAAAAGGATTTGAGCCCCATTTGGGATGGGCCAAAGAGGAACAGGCGTTTTTATTGAGATGTTAATACAGGATTTGATCATTGAGTCTCAACTTCCCTAACTGAATTGGCAAACTAGATACCTTCTTGGGTTATGGTATATTAGAGAAACACGAAAACTACTGGCATTTGGACTTTCTTAGAATTTTGTGGCTCATTAAAAATTGTATCTGGCTCAGTGTGATGGAGGGTTGGGACCGGGCAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAGTCATGGCTCGCTGCAGCCTCGACTTCCCAGCTCAAACAGTTCTGCATCAGTCTCCCGAGTAGCTGGGACTACAGGCACACACTACCATGCCCGGCTAATTTTTTTTTTAATTTTGTATTTTGTAGAGAGGGGGTCTCACTATGTTTGTTGTCCAGGCTTACGTGTGAGTTTTAAATAAACCATTTCTTTTTCTTTCAGATTTCCACAAGACGGCACCCTATGTCGTCACTGGCAGCGTAGATCAAACAGTAAAAGTGTGGGAGTGCCGTTGATTGTGTCTCCTTCGGCCCCTCCTCCCTCTTTTCCTCTGGATGCACTCTGATGATACCATGGTTACCCCATTGAGCTCTGTTTAAATAAATATTGTCCTTTCATGTAAATTATTCTGGATGTAGATTGAGCTTATTAAATGTTACACACAAAGTATTCATGCATGGTGAATCCAAATTGTATACTGTAAATTTACATACGTTGTCTAGAAGTACCATAGGGTTTAAAAACCTGGGCTGGCATTGGTCACACCAGGCCTAAGAAGGCAGAAGTTGAATCAATTGAACTAGGGCACTAAACTGAATAGTTGACAGTGTCATTTTATGTTGGATTATTAATTCCTGTTTTTCTTTCTGCTATCTGTTGGTGCCTGACTTGATGGCCTCATTTGGGGAAAAGTGGTGGTTATTAGGGCTTTTTCTGAAATGTGTATCTATGTAACATCACTTAAGTGTGCTTAATAAATCTTCTGTAAGGATTTTAGATGATAAGGCTACAATTCAGAATCTTCTGAACCATCTATGTAATGAATGGGGATTATACATTGGAATTTTTGTCATGACACATTTGCCAAATCAGTAGGATATATTTGTTTTGGCAGCCTATCACGCAGAGGCTAGTGGTATATTTATGTAAGAAAATGACTGTAAATCTCAAGAAAAATCTCAGCAGCTAATAGCAACTCATTTATTTCATTTTGGTCTTAATGCTTTGTAAACAGGTCAAAAAATACTGTCATACTCTAAGCTTCTATTTTCCACACTGGACATACTTCTAGTTGTATTCTCCATACTATTAGACTGTGTAGTGATGTGACTTCCAAGTAGAATTTAATCTCCCCATTGAGTGTGTCATGGTACAAATCACTATTCGTTTTTGGTGTTTTTTAGGGATGTGCAATGTGCATTACATAATGACAGAAATACTGAGAAGGTTCTGTGTGCCCATTTGAAAGGAGTGGGAGGAATACAGCAGTTTGTTTTTCAACATGAATCTGATATTGATTTAAACTGTGTTTCACTTACAAGTTTTAAAAAAATGACAGGGTTTAATGGAGCGTGCATAAAAATGTACTGTTTTCACCTTTTGTTTATATGTAAATGTTTGTAAGTATATGGGCCTATCTGTAAGTGGATAAGTCTGTATGTGTGTATCATACACATCAACCTCCATGTCCTTAGTCCTGGGTTTTTGAAAAAGTGCTAAAACGGACAAGTAGAATAAATGTTGCTGTGGAATGCCATGCTTTAGAACAAACCCTTTTTGATCTTAATGCTTCTGAAAACTAGGTCTGACTCTGGGGATTTTTTTCCAGCCGAAGGAAAATCACTTCCGTTATGTCCCCCTCTAATTTAGCCGCTCGACATTTTACACAACCCGGATATGTTGTATATTTTGACCCAAAGTTACAGGTAGGTTTAAGAGAATTTTTAGCCATGACTTTTGGAGCACTATTCCATTGTCAGTTATTAATAAAGAATTCCATTGCTTAGCTAACCAACAGGTTTTTTTTGTTTCCAAGAGAGTTATTTGAAAAGTTAACAGAACAATGAGATAACAGTGACAGTTTAACAAAGATAAAATTCTGAACTGCGTTTTATTCATTTGTGTACTATGTGATTTTTTAAATGTCCCCTTTAGTATTTAATGGAAAATTGGTTCCTGCAAAAGACAAAGGGTGAGAGTTAGCGTCCTGTAGATACACACAGAGACTAGGCCGTATATTAACTAGAAGCAGCTTTATGTCTAGCTTGTGTCTTTTTGTTTGTTTGCTTGTTTGTTTTTAGATTCCTGAGAGATGTCTCTGGAAGGGAAAGTTTTGAGAACTAATGGCTATTTTTGAGGACAAAAATTACATCTTAAGCTAATTCCTTAAATACATACAGTAGGTGAATTTTCAGGACAATATTGCCTCACAACCCTGCTTACATTGAAAAGTCTTTTTCCCTTAGCTCTTCTGACTGGATTTTTCTACAAAAAC
TGAATGCCTGTATATCCTTCACTTAGTTACCATTTGTTGGTTTTCCTTCATGTATGTGTGTATATTTTGCTGAAATCATTTGAGCGTTCTTTGCAGACATCGTAACACTTTACCCCCAAGTATTTTAGCATGAACCACCTAAGAACAAGGATAGTATATAAATAACCAAAATAAAATTATTCACACTCAAGAAATTTACCATTGATAGACTACATATTGAGATTTGTTCTTGTTATTTCCATAATGCCCTGCGGGACTTCTTTTTAACCCTCATCCAGGACCCAGTCAGGGATCGTACGTTATATTCACTCCTCATGTCTTATGAGTTTTCAGTTTCCTTTAATCTAGAATCCCCTAGACTTTTATTTTCTTCTGGTCTTTTGATGTTTTTGGTATGTATAGTTTTATCGTATTATGAAATAGATGCTATTTAAACATTTTGCCTTTTACTGAGTCAAATAACTTTTTTGTTTTTAAGGTGGGTCATGATAACTGGGTACGTGGAGTTCTGTTCCATTCTGGGGGGAAGTTTATTTTGAGTTGTGCTGATGACAAGACCCTACGCGTATGGGATTACAAGAACAAGCGATGCATGAAGACCCTCAATGCGCATGAACACTTTGTTACCTCCTTGGGTATGTACGCCTCGCGAGGTCTCTGAACATTAGATTTTGGAGTGCCAGACAAACTGTGTTTTACATAATCGTGTGGACTTTGCCAGGTAAGAAATGACTGTGCTTTCAGGGCAGAATAGAGAAGACATGAAAATCTTGTGGATTCCTACCATTTGTTTTAAATTCTCCTTTCCCGTTAACTCTTTCCATCGTTAGCCTTATAATAAAAACATTACTTTCTCCACTGCACAACATTGGTTTTGGAAACCACAATTTGTGAAGAGGTTACTTACCACTCTGATGGGTAATTTTTCTCCCCTATTAGTTTGTTTCTCAAACAAAATCTTCCTCAACCTTTCCCACTGGCAGGTGTATACTATCAGATACTAGAAACTCAGAAAATTGTATTTGATTTGAGTAAACATCCTCACTATCATCTGGACTTGAATCTGGAATTTAAGAGAGTGAATACAGTCAAGTATAATAAATGCACTAAAGTATAATGGACCAAAGCCTGCGTAAGGTGGGCTAATACCTGCCTCACAGGATTGGTTCAAGGATTAGGCACAAATACGGAGCATTTATGCCATGCCTGGAACATCGTGTTCAGTAAATGGATATGGCGAGACTGTGTATTGTTAGATTTGAGCCCTGCTGTGCCTTAGTCCCAGCTACTCAGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGGAGTTCTGGGTTACAGTGTGCTGTGCTGATGGGATGTTTGCACTAAGTGCAGCATCAATATGGTGACCTCCTGGGAACAGGAGACTCCCAGGTTGCCTAAGGAGGGGTGACCTGGCCCAGGTCAGAAACAGAGCAGGTCAAAACTCCCTTGCTGATCAGTAGTGGGATCGCACCTTTGAACAGCCACTGCACTCCAGCCTGGGCAACATAGTGAGACCCTGCCTTTGAAAAAAGAAGAAAAAGGATTTGAGCCCCATTTGGGATGGGCCAAAGAGGAACAGGCGTTTTTATTGAGATGTTAATACAGGATTTGATCATTGAGTCTCAACTTCCCTAACTGAATTGGCAAACTAGATACCTTCTTGGGTTATGGTATATTAGAGAAACACGAAAACTACTGGCATTTGGACTTTCTTAGAATTTTGTGGCTCATTAAAAATTGTATCTGGCTCAGTGTGATGGAGGGTTGGGACCGGGCAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAGTCATGGCTCGCTGCAGCCTCGACTTCCCAGCTCAAACAGTTCTGCATCAGTCTCCCGAGTAGCTGGGACTACAGGCACACACTACCATGCCCGGCTAATTTTTTTTTTAATTTTGTATTTTGTAGAGAGGGGGTCTCACTATGTTTGTTGTCCAGGCTTACGTGTGAGTTTTAAATAAACCATTTCTTTTTCTTTCAGATTTCTACAAGACGGCACCCTATGTCGTCACTGGCAGCGTAGATCAAACAGTAAAAGTGTGGGAGTGCCGTTGATTGTGTCTCCTTCGGCCCCTCCTCCCTCTTTTCCTCTGGATGCACTCTGATGATACCATGGTTACCCCATTGAGCTCTGTTTAAATAAATATTGTCCTTTCATGTAAATTATTCTGGATGTAGATTGAGCTTATTAAATGTTACACACAAAGTATTCATGCATGGTGAATCCAAATTGTATACTGTAAATTTACATACGTTGTCTAGAAGTACCATAGGGTTTAAAAACCTGGGCTGGCATTGGTCACACCAGGCCTAAGAAGGCAGAAGTTGAATCAATTGAACTAGGGCACTAAACTGAATAGTTGACAGTGTCATTTTATGTTGGATTATTAATTCCTGTTTTTCTTTCTGCTATCTGTTGGTGCCTGACTTGATGGCCTCATTTGGGGAAAAGTGGTGGTTATTAGGGCTTTTTCTGAAATGTGTATCTATGTAACATCACTTAAGTGTGCTTAATAAATCTTCTGTAAGGATTTTAGATGATAAGGCTACAATTCAGAATCTTCTGAACCATCTATGTAATGAATGGGGATTATACATTGGAATTTTTGTCATGACACATTTGCCAAATCAGTAGGATATATTTGTTTTGGCAGCCTATCACGCAGAGGCTAGTGGTATATTTATGTAAGAAAATGACTGTAAATCTCAAGAAAAATCTCAGCAGCTAATAGCAACTCATTTATTTCATTTTGGTCTTAATGCTTTGTAAACAGGTCAAAAAATACTGTCATACTCTAAGCTTCTATTTTCCACACTGGACATACTTCTAGTTGTATTCTCCATACTATTAGACTGTGTAGTGATGTGACTTCCAAGTAGAATTTAATCTCCCCATTGAGTGTGTCATGGTACAAATCACTATTCGTTTTTGGTGTTTTTTAGGGATGTGCAATGTGCATTACATAATGACAGAAATACTGAGAAGGTTCTGTGTGCCCATTTGAAAGGAGTGGGAGGAATACAGCAGTTTGTTTTTCAACATGAATCTGATATTGATTTAAACTGTGTTTCACTTACAAGTTTTAAAAAAATGACAGGGTTTAATGGAGCGTGCATAAAAATGTACTGTTTTCACCTTTTGTTTATATGTAAATGTTTGTAAGTATATGGGCCTATCTGTAAGTGGATAAGTCTGTATGTGTGTATCATACACATCAACCTCCATGTCCTTAGTCCTGGGTTTTTGAAAAAGTGCTAAAACGGACAAGTAGAATAAATGTTGCTGTGGAATGCCATGCTTTAGAACAAACCCTTTTTGATCTTAATGCTTCTGAAAACTAGGTCTGACTCTGGGGATTTTTTTCCAGCCGAAGGAAAATCACTTCCGTTATGTCCCCCTCTAATTTAGCCGCTCGACATTTTACACAACCCGGATATGTTGTATATTTTGACCCAAAGTTACAGGTAGGTTTAAGAGAATTTTTAGCCATGACTTTTGGAGCACTATTCCATTGTCAGTTATTAATAAAGAATTCCATTGCTTAGCTAACCAACAGGTTTTTTTTGTTTCCAAGAGAGTTATTTGAAAAGTTAACAGAACAATGAGATAACAGTGACAGTTTAACAAAGATAAAATTCTGAACTGCGTTTTATTCATTTGTGTACTATGTGATTTTTTAAATGTCCCCTTTAGTATTTAATGGAAAATTGGTTCCTGCAAAAGACAAAGGGTGAGAGTTAGCGTCCTGTAGATACACACAGAGACTAGGCCGTATATTAACTAGAAGCAGCTTTATGTCTAGCTTGTGTCTTTTTGTTTGTTTGCTTGTTTGTTTTTAGATTCCTGAGAGATGTCTCTGGAAGGGAAAGTTTTGAGAACTAATGGCTATTTTTGAGGACAAAAATTACATCTTAAGCTAATTCCTTAAATACATACAGTAGGTGAATTTTCAGGACAATATTGCCTCACAACCCTGCTTACATTGAAAAGTCTTTTTCCCTTAGCTCTTCTGACTGGATTTTTCTACAAAAAC
Task1_train_23204
A variant affecting Chromosome 17, within the gene PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Lissencephaly due to LIS1 mutation
ATTTGTTGGTTTTCCTTCATGTATGTGTGTATATTTTGCTGAAATCATTTGAGCGTTCTTTGCAGACATCGTAACACTTTACCCCCAAGTATTTTAGCATGAACCACCTAAGAACAAGGATAGTATATAAATAACCAAAATAAAATTATTCACACTCAAGAAATTTACCATTGATAGACTACATATTGAGATTTGTTCTTGTTATTTCCATAATGCCCTGCGGGACTTCTTTTTAACCCTCATCCAGGACCCAGTCAGGGATCGTACGTTATATTCACTCCTCATGTCTTATGAGTTTTCAGTTTCCTTTAATCTAGAATCCCCTAGACTTTTATTTTCTTCTGGTCTTTTGATGTTTTTGGTATGTATAGTTTTATCGTATTATGAAATAGATGCTATTTAAACATTTTGCCTTTTACTGAGTCAAATAACTTTTTTGTTTTTAAGGTGGGTCATGATAACTGGGTACGTGGAGTTCTGTTCCATTCTGGGGGGAAGTTTATTTTGAGTTGTGCTGATGACAAGACCCTACGCGTATGGGATTACAAGAACAAGCGATGCATGAAGACCCTCAATGCGCATGAACACTTTGTTACCTCCTTGGGTATGTACGCCTCGCGAGGTCTCTGAACATTAGATTTTGGAGTGCCAGACAAACTGTGTTTTACATAATCGTGTGGACTTTGCCAGGTAAGAAATGACTGTGCTTTCAGGGCAGAATAGAGAAGACATGAAAATCTTGTGGATTCCTACCATTTGTTTTAAATTCTCCTTTCCCGTTAACTCTTTCCATCGTTAGCCTTATAATAAAAACATTACTTTCTCCACTGCACAACATTGGTTTTGGAAACCACAATTTGTGAAGAGGTTACTTACCACTCTGATGGGTAATTTTTCTCCCCTATTAGTTTGTTTCTCAAACAAAATCTTCCTCAACCTTTCCCACTGGCAGGTGTATACTATCAGATACTAGAAACTCAGAAAATTGTATTTGATTTGAGTAAACATCCTCACTATCATCTGGACTTGAATCTGGAATTTAAGAGAGTGAATACAGTCAAGTATAATAAATGCACTAAAGTATAATGGACCAAAGCCTGCGTAAGGTGGGCTAATACCTGCCTCACAGGATTGGTTCAAGGATTAGGCACAAATACGGAGCATTTATGCCATGCCTGGAACATCGTGTTCAGTAAATGGATATGGCGAGACTGTGTATTGTTAGATTTGAGCCCTGCTGTGCCTTAGTCCCAGCTACTCAGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGGAGTTCTGGGTTACAGTGTGCTGTGCTGATGGGATGTTTGCACTAAGTGCAGCATCAATATGGTGACCTCCTGGGAACAGGAGACTCCCAGGTTGCCTAAGGAGGGGTGACCTGGCCCAGGTCAGAAACAGAGCAGGTCAAAACTCCCTTGCTGATCAGTAGTGGGATCGCACCTTTGAACAGCCACTGCACTCCAGCCTGGGCAACATAGTGAGACCCTGCCTTTGAAAAAAGAAGAAAAAGGATTTGAGCCCCATTTGGGATGGGCCAAAGAGGAACAGGCGTTTTTATTGAGATGTTAATACAGGATTTGATCATTGAGTCTCAACTTCCCTAACTGAATTGGCAAACTAGATACCTTCTTGGGTTATGGTATATTAGAGAAACACGAAAACTACTGGCATTTGGACTTTCTTAGAATTTTGTGGCTCATTAAAAATTGTATCTGGCTCAGTGTGATGGAGGGTTGGGACCGGGCAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAGTCATGGCTCGCTGCAGCCTCGACTTCCCAGCTCAAACAGTTCTGCATCAGTCTCCCGAGTAGCTGGGACTACAGGCACACACTACCATGCCCGGCTAATTTTTTTTTTAATTTTGTATTTTGTAGAGAGGGGGTCTCACTATGTTTGTTGTCCAGGCTTACGTGTGAGTTTTAAATAAACCATTTCTTTTTCTTTCAGATTTCCACAAGACGGCACCCTATGTCGTCACTGGCAGCGTAGATCAAACAGTAAAAGTGTGGGAGTGCCGTTGATTGTGTCTCCTTCGGCCCCTCCTCCCTCTTTTCCTCTGGATGCACTCTGATGATACCATGGTTACCCCATTGAGCTCTGTTTAAATAAATATTGTCCTTTCATGTAAATTATTCTGGATGTAGATTGAGCTTATTAAATGTTACACACAAAGTATTCATGCATGGTGAATCCAAATTGTATACTGTAAATTTACATACGTTGTCTAGAAGTACCATAGGGTTTAAAAACCTGGGCTGGCATTGGTCACACCAGGCCTAAGAAGGCAGAAGTTGAATCAATTGAACTAGGGCACTAAACTGAATAGTTGACAGTGTCATTTTATGTTGGATTATTAATTCCTGTTTTTCTTTCTGCTATCTGTTGGTGCCTGACTTGATGGCCTCATTTGGGGAAAAGTGGTGGTTATTAGGGCTTTTTCTGAAATGTGTATCTATGTAACATCACTTAAGTGTGCTTAATAAATCTTCTGTAAGGATTTTAGATGATAAGGCTACAATTCAGAATCTTCTGAACCATCTATGTAATGAATGGGGATTATACATTGGAATTTTTGTCATGACACATTTGCCAAATCAGTAGGATATATTTGTTTTGGCAGCCTATCACGCAGAGGCTAGTGGTATATTTATGTAAGAAAATGACTGTAAATCTCAAGAAAAATCTCAGCAGCTAATAGCAACTCATTTATTTCATTTTGGTCTTAATGCTTTGTAAACAGGTCAAAAAATACTGTCATACTCTAAGCTTCTATTTTCCACACTGGACATACTTCTAGTTGTATTCTCCATACTATTAGACTGTGTAGTGATGTGACTTCCAAGTAGAATTTAATCTCCCCATTGAGTGTGTCATGGTACAAATCACTATTCGTTTTTGGTGTTTTTTAGGGATGTGCAATGTGCATTACATAATGACAGAAATACTGAGAAGGTTCTGTGTGCCCATTTGAAAGGAGTGGGAGGAATACAGCAGTTTGTTTTTCAACATGAATCTGATATTGATTTAAACTGTGTTTCACTTACAAGTTTTAAAAAAATGACAGGGTTTAATGGAGCGTGCATAAAAATGTACTGTTTTCACCTTTTGTTTATATGTAAATGTTTGTAAGTATATGGGCCTATCTGTAAGTGGATAAGTCTGTATGTGTGTATCATACACATCAACCTCCATGTCCTTAGTCCTGGGTTTTTGAAAAAGTGCTAAAACGGACAAGTAGAATAAATGTTGCTGTGGAATGCCATGCTTTAGAACAAACCCTTTTTGATCTTAATGCTTCTGAAAACTAGGTCTGACTCTGGGGATTTTTTTCCAGCCGAAGGAAAATCACTTCCGTTATGTCCCCCTCTAATTTAGCCGCTCGACATTTTACACAACCCGGATATGTTGTATATTTTGACCCAAAGTTACAGGTAGGTTTAAGAGAATTTTTAGCCATGACTTTTGGAGCACTATTCCATTGTCAGTTATTAATAAAGAATTCCATTGCTTAGCTAACCAACAGGTTTTTTTTGTTTCCAAGAGAGTTATTTGAAAAGTTAACAGAACAATGAGATAACAGTGACAGTTTAACAAAGATAAAATTCTGAACTGCGTTTTATTCATTTGTGTACTATGTGATTTTTTAAATGTCCCCTTTAGTATTTAATGGAAAATTGGTTCCTGCAAAAGACAAAGGGTGAGAGTTAGCGTCCTGTAGATACACACAGAGACTAGGCCGTATATTAACTAGAAGCAGCTTTATGTCTAGCTTGTGTCTTTTTGTTTGTTTGCTTGTTTGTTTTTAGATTCCTGAGAGATGTCTCTGGAAGGGAAAGTTTTGAGAACTAATGGCTATTTTTGAGGACAAAAATTACATCTTAAGCTAATTCCTTAAATACATACAGTAGGTGAATTTTCAGGACAATATTGCCTCACAACCCTGCTTACATTGAAAAGTCTTTTTCCCTTAGCTCTTCTGACTGGATTTTTCTACAAAAACTATGGAAAATATCTTTGTTCTTGTTTGCTGC
ATTTGTTGGTTTTCCTTCATGTATGTGTGTATATTTTGCTGAAATCATTTGAGCGTTCTTTGCAGACATCGTAACACTTTACCCCCAAGTATTTTAGCATGAACCACCTAAGAACAAGGATAGTATATAAATAACCAAAATAAAATTATTCACACTCAAGAAATTTACCATTGATAGACTACATATTGAGATTTGTTCTTGTTATTTCCATAATGCCCTGCGGGACTTCTTTTTAACCCTCATCCAGGACCCAGTCAGGGATCGTACGTTATATTCACTCCTCATGTCTTATGAGTTTTCAGTTTCCTTTAATCTAGAATCCCCTAGACTTTTATTTTCTTCTGGTCTTTTGATGTTTTTGGTATGTATAGTTTTATCGTATTATGAAATAGATGCTATTTAAACATTTTGCCTTTTACTGAGTCAAATAACTTTTTTGTTTTTAAGGTGGGTCATGATAACTGGGTACGTGGAGTTCTGTTCCATTCTGGGGGGAAGTTTATTTTGAGTTGTGCTGATGACAAGACCCTACGCGTATGGGATTACAAGAACAAGCGATGCATGAAGACCCTCAATGCGCATGAACACTTTGTTACCTCCTTGGGTATGTACGCCTCGCGAGGTCTCTGAACATTAGATTTTGGAGTGCCAGACAAACTGTGTTTTACATAATCGTGTGGACTTTGCCAGGTAAGAAATGACTGTGCTTTCAGGGCAGAATAGAGAAGACATGAAAATCTTGTGGATTCCTACCATTTGTTTTAAATTCTCCTTTCCCGTTAACTCTTTCCATCGTTAGCCTTATAATAAAAACATTACTTTCTCCACTGCACAACATTGGTTTTGGAAACCACAATTTGTGAAGAGGTTACTTACCACTCTGATGGGTAATTTTTCTCCCCTATTAGTTTGTTTCTCAAACAAAATCTTCCTCAACCTTTCCCACTGGCAGGTGTATACTATCAGATACTAGAAACTCAGAAAATTGTATTTGATTTGAGTAAACATCCTCACTATCATCTGGACTTGAATCTGGAATTTAAGAGAGTGAATACAGTCAAGTATAATAAATGCACTAAAGTATAATGGACCAAAGCCTGCGTAAGGTGGGCTAATACCTGCCTCACAGGATTGGTTCAAGGATTAGGCACAAATACGGAGCATTTATGCCATGCCTGGAACATCGTGTTCAGTAAATGGATATGGCGAGACTGTGTATTGTTAGATTTGAGCCCTGCTGTGCCTTAGTCCCAGCTACTCAGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGGAGTTCTGGGTTACAGTGTGCTGTGCTGATGGGATGTTTGCACTAAGTGCAGCATCAATATGGTGACCTCCTGGGAACAGGAGACTCCCAGGTTGCCTAAGGAGGGGTGACCTGGCCCAGGTCAGAAACAGAGCAGGTCAAAACTCCCTTGCTGATCAGTAGTGGGATCGCACCTTTGAACAGCCACTGCACTCCAGCCTGGGCAACATAGTGAGACCCTGCCTTTGAAAAAAGAAGAAAAAGGATTTGAGCCCCATTTGGGATGGGCCAAAGAGGAACAGGCGTTTTTATTGAGATGTTAATACAGGATTTGATCATTGAGTCTCAACTTCCCTAACTGAATTGGCAAACTAGATACCTTCTTGGGTTATGGTATATTAGAGAAACACGAAAACTACTGGCATTTGGACTTTCTTAGAATTTTGTGGCTCATTAAAAATTGTATCTGGCTCAGTGTGATGGAGGGTTGGGACCGGGCAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAGTCATGGCTCGCTGCAGCCTCGACTTCCCAGCTCAAACAGTTCTGCATCAGTCTCCCGAGTAGCTGGGACTACAGGCACACACTACCATGCCCGGCTAATTTTTTTTTTAATTTTGTATTTTGTAGAGAGGGGGTCTCACTATGTTTGTTGTCCAGGCTTACGTGTGAGTTTTAAATAAACCATTTCTTTTTCTTTCAGATTTCCACAAGACGGCACCCTATGTCGTCACTGGCACCGTAGATCAAACAGTAAAAGTGTGGGAGTGCCGTTGATTGTGTCTCCTTCGGCCCCTCCTCCCTCTTTTCCTCTGGATGCACTCTGATGATACCATGGTTACCCCATTGAGCTCTGTTTAAATAAATATTGTCCTTTCATGTAAATTATTCTGGATGTAGATTGAGCTTATTAAATGTTACACACAAAGTATTCATGCATGGTGAATCCAAATTGTATACTGTAAATTTACATACGTTGTCTAGAAGTACCATAGGGTTTAAAAACCTGGGCTGGCATTGGTCACACCAGGCCTAAGAAGGCAGAAGTTGAATCAATTGAACTAGGGCACTAAACTGAATAGTTGACAGTGTCATTTTATGTTGGATTATTAATTCCTGTTTTTCTTTCTGCTATCTGTTGGTGCCTGACTTGATGGCCTCATTTGGGGAAAAGTGGTGGTTATTAGGGCTTTTTCTGAAATGTGTATCTATGTAACATCACTTAAGTGTGCTTAATAAATCTTCTGTAAGGATTTTAGATGATAAGGCTACAATTCAGAATCTTCTGAACCATCTATGTAATGAATGGGGATTATACATTGGAATTTTTGTCATGACACATTTGCCAAATCAGTAGGATATATTTGTTTTGGCAGCCTATCACGCAGAGGCTAGTGGTATATTTATGTAAGAAAATGACTGTAAATCTCAAGAAAAATCTCAGCAGCTAATAGCAACTCATTTATTTCATTTTGGTCTTAATGCTTTGTAAACAGGTCAAAAAATACTGTCATACTCTAAGCTTCTATTTTCCACACTGGACATACTTCTAGTTGTATTCTCCATACTATTAGACTGTGTAGTGATGTGACTTCCAAGTAGAATTTAATCTCCCCATTGAGTGTGTCATGGTACAAATCACTATTCGTTTTTGGTGTTTTTTAGGGATGTGCAATGTGCATTACATAATGACAGAAATACTGAGAAGGTTCTGTGTGCCCATTTGAAAGGAGTGGGAGGAATACAGCAGTTTGTTTTTCAACATGAATCTGATATTGATTTAAACTGTGTTTCACTTACAAGTTTTAAAAAAATGACAGGGTTTAATGGAGCGTGCATAAAAATGTACTGTTTTCACCTTTTGTTTATATGTAAATGTTTGTAAGTATATGGGCCTATCTGTAAGTGGATAAGTCTGTATGTGTGTATCATACACATCAACCTCCATGTCCTTAGTCCTGGGTTTTTGAAAAAGTGCTAAAACGGACAAGTAGAATAAATGTTGCTGTGGAATGCCATGCTTTAGAACAAACCCTTTTTGATCTTAATGCTTCTGAAAACTAGGTCTGACTCTGGGGATTTTTTTCCAGCCGAAGGAAAATCACTTCCGTTATGTCCCCCTCTAATTTAGCCGCTCGACATTTTACACAACCCGGATATGTTGTATATTTTGACCCAAAGTTACAGGTAGGTTTAAGAGAATTTTTAGCCATGACTTTTGGAGCACTATTCCATTGTCAGTTATTAATAAAGAATTCCATTGCTTAGCTAACCAACAGGTTTTTTTTGTTTCCAAGAGAGTTATTTGAAAAGTTAACAGAACAATGAGATAACAGTGACAGTTTAACAAAGATAAAATTCTGAACTGCGTTTTATTCATTTGTGTACTATGTGATTTTTTAAATGTCCCCTTTAGTATTTAATGGAAAATTGGTTCCTGCAAAAGACAAAGGGTGAGAGTTAGCGTCCTGTAGATACACACAGAGACTAGGCCGTATATTAACTAGAAGCAGCTTTATGTCTAGCTTGTGTCTTTTTGTTTGTTTGCTTGTTTGTTTTTAGATTCCTGAGAGATGTCTCTGGAAGGGAAAGTTTTGAGAACTAATGGCTATTTTTGAGGACAAAAATTACATCTTAAGCTAATTCCTTAAATACATACAGTAGGTGAATTTTCAGGACAATATTGCCTCACAACCCTGCTTACATTGAAAAGTCTTTTTCCCTTAGCTCTTCTGACTGGATTTTTCTACAAAAACTATGGAAAATATCTTTGTTCTTGTTTGCTGC
Task1_train_23205
Here’s a variant in PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Lissencephaly due to LIS1 mutation
TTGGTTTTCCTTCATGTATGTGTGTATATTTTGCTGAAATCATTTGAGCGTTCTTTGCAGACATCGTAACACTTTACCCCCAAGTATTTTAGCATGAACCACCTAAGAACAAGGATAGTATATAAATAACCAAAATAAAATTATTCACACTCAAGAAATTTACCATTGATAGACTACATATTGAGATTTGTTCTTGTTATTTCCATAATGCCCTGCGGGACTTCTTTTTAACCCTCATCCAGGACCCAGTCAGGGATCGTACGTTATATTCACTCCTCATGTCTTATGAGTTTTCAGTTTCCTTTAATCTAGAATCCCCTAGACTTTTATTTTCTTCTGGTCTTTTGATGTTTTTGGTATGTATAGTTTTATCGTATTATGAAATAGATGCTATTTAAACATTTTGCCTTTTACTGAGTCAAATAACTTTTTTGTTTTTAAGGTGGGTCATGATAACTGGGTACGTGGAGTTCTGTTCCATTCTGGGGGGAAGTTTATTTTGAGTTGTGCTGATGACAAGACCCTACGCGTATGGGATTACAAGAACAAGCGATGCATGAAGACCCTCAATGCGCATGAACACTTTGTTACCTCCTTGGGTATGTACGCCTCGCGAGGTCTCTGAACATTAGATTTTGGAGTGCCAGACAAACTGTGTTTTACATAATCGTGTGGACTTTGCCAGGTAAGAAATGACTGTGCTTTCAGGGCAGAATAGAGAAGACATGAAAATCTTGTGGATTCCTACCATTTGTTTTAAATTCTCCTTTCCCGTTAACTCTTTCCATCGTTAGCCTTATAATAAAAACATTACTTTCTCCACTGCACAACATTGGTTTTGGAAACCACAATTTGTGAAGAGGTTACTTACCACTCTGATGGGTAATTTTTCTCCCCTATTAGTTTGTTTCTCAAACAAAATCTTCCTCAACCTTTCCCACTGGCAGGTGTATACTATCAGATACTAGAAACTCAGAAAATTGTATTTGATTTGAGTAAACATCCTCACTATCATCTGGACTTGAATCTGGAATTTAAGAGAGTGAATACAGTCAAGTATAATAAATGCACTAAAGTATAATGGACCAAAGCCTGCGTAAGGTGGGCTAATACCTGCCTCACAGGATTGGTTCAAGGATTAGGCACAAATACGGAGCATTTATGCCATGCCTGGAACATCGTGTTCAGTAAATGGATATGGCGAGACTGTGTATTGTTAGATTTGAGCCCTGCTGTGCCTTAGTCCCAGCTACTCAGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGGAGTTCTGGGTTACAGTGTGCTGTGCTGATGGGATGTTTGCACTAAGTGCAGCATCAATATGGTGACCTCCTGGGAACAGGAGACTCCCAGGTTGCCTAAGGAGGGGTGACCTGGCCCAGGTCAGAAACAGAGCAGGTCAAAACTCCCTTGCTGATCAGTAGTGGGATCGCACCTTTGAACAGCCACTGCACTCCAGCCTGGGCAACATAGTGAGACCCTGCCTTTGAAAAAAGAAGAAAAAGGATTTGAGCCCCATTTGGGATGGGCCAAAGAGGAACAGGCGTTTTTATTGAGATGTTAATACAGGATTTGATCATTGAGTCTCAACTTCCCTAACTGAATTGGCAAACTAGATACCTTCTTGGGTTATGGTATATTAGAGAAACACGAAAACTACTGGCATTTGGACTTTCTTAGAATTTTGTGGCTCATTAAAAATTGTATCTGGCTCAGTGTGATGGAGGGTTGGGACCGGGCAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAGTCATGGCTCGCTGCAGCCTCGACTTCCCAGCTCAAACAGTTCTGCATCAGTCTCCCGAGTAGCTGGGACTACAGGCACACACTACCATGCCCGGCTAATTTTTTTTTTAATTTTGTATTTTGTAGAGAGGGGGTCTCACTATGTTTGTTGTCCAGGCTTACGTGTGAGTTTTAAATAAACCATTTCTTTTTCTTTCAGATTTCCACAAGACGGCACCCTATGTCGTCACTGGCAGCGTAGATCAAACAGTAAAAGTGTGGGAGTGCCGTTGATTGTGTCTCCTTCGGCCCCTCCTCCCTCTTTTCCTCTGGATGCACTCTGATGATACCATGGTTACCCCATTGAGCTCTGTTTAAATAAATATTGTCCTTTCATGTAAATTATTCTGGATGTAGATTGAGCTTATTAAATGTTACACACAAAGTATTCATGCATGGTGAATCCAAATTGTATACTGTAAATTTACATACGTTGTCTAGAAGTACCATAGGGTTTAAAAACCTGGGCTGGCATTGGTCACACCAGGCCTAAGAAGGCAGAAGTTGAATCAATTGAACTAGGGCACTAAACTGAATAGTTGACAGTGTCATTTTATGTTGGATTATTAATTCCTGTTTTTCTTTCTGCTATCTGTTGGTGCCTGACTTGATGGCCTCATTTGGGGAAAAGTGGTGGTTATTAGGGCTTTTTCTGAAATGTGTATCTATGTAACATCACTTAAGTGTGCTTAATAAATCTTCTGTAAGGATTTTAGATGATAAGGCTACAATTCAGAATCTTCTGAACCATCTATGTAATGAATGGGGATTATACATTGGAATTTTTGTCATGACACATTTGCCAAATCAGTAGGATATATTTGTTTTGGCAGCCTATCACGCAGAGGCTAGTGGTATATTTATGTAAGAAAATGACTGTAAATCTCAAGAAAAATCTCAGCAGCTAATAGCAACTCATTTATTTCATTTTGGTCTTAATGCTTTGTAAACAGGTCAAAAAATACTGTCATACTCTAAGCTTCTATTTTCCACACTGGACATACTTCTAGTTGTATTCTCCATACTATTAGACTGTGTAGTGATGTGACTTCCAAGTAGAATTTAATCTCCCCATTGAGTGTGTCATGGTACAAATCACTATTCGTTTTTGGTGTTTTTTAGGGATGTGCAATGTGCATTACATAATGACAGAAATACTGAGAAGGTTCTGTGTGCCCATTTGAAAGGAGTGGGAGGAATACAGCAGTTTGTTTTTCAACATGAATCTGATATTGATTTAAACTGTGTTTCACTTACAAGTTTTAAAAAAATGACAGGGTTTAATGGAGCGTGCATAAAAATGTACTGTTTTCACCTTTTGTTTATATGTAAATGTTTGTAAGTATATGGGCCTATCTGTAAGTGGATAAGTCTGTATGTGTGTATCATACACATCAACCTCCATGTCCTTAGTCCTGGGTTTTTGAAAAAGTGCTAAAACGGACAAGTAGAATAAATGTTGCTGTGGAATGCCATGCTTTAGAACAAACCCTTTTTGATCTTAATGCTTCTGAAAACTAGGTCTGACTCTGGGGATTTTTTTCCAGCCGAAGGAAAATCACTTCCGTTATGTCCCCCTCTAATTTAGCCGCTCGACATTTTACACAACCCGGATATGTTGTATATTTTGACCCAAAGTTACAGGTAGGTTTAAGAGAATTTTTAGCCATGACTTTTGGAGCACTATTCCATTGTCAGTTATTAATAAAGAATTCCATTGCTTAGCTAACCAACAGGTTTTTTTTGTTTCCAAGAGAGTTATTTGAAAAGTTAACAGAACAATGAGATAACAGTGACAGTTTAACAAAGATAAAATTCTGAACTGCGTTTTATTCATTTGTGTACTATGTGATTTTTTAAATGTCCCCTTTAGTATTTAATGGAAAATTGGTTCCTGCAAAAGACAAAGGGTGAGAGTTAGCGTCCTGTAGATACACACAGAGACTAGGCCGTATATTAACTAGAAGCAGCTTTATGTCTAGCTTGTGTCTTTTTGTTTGTTTGCTTGTTTGTTTTTAGATTCCTGAGAGATGTCTCTGGAAGGGAAAGTTTTGAGAACTAATGGCTATTTTTGAGGACAAAAATTACATCTTAAGCTAATTCCTTAAATACATACAGTAGGTGAATTTTCAGGACAATATTGCCTCACAACCCTGCTTACATTGAAAAGTCTTTTTCCCTTAGCTCTTCTGACTGGATTTTTCTACAAAAACTATGGAAAATATCTTTGTTCTTGTTTGCTGCTATTT
TTGGTTTTCCTTCATGTATGTGTGTATATTTTGCTGAAATCATTTGAGCGTTCTTTGCAGACATCGTAACACTTTACCCCCAAGTATTTTAGCATGAACCACCTAAGAACAAGGATAGTATATAAATAACCAAAATAAAATTATTCACACTCAAGAAATTTACCATTGATAGACTACATATTGAGATTTGTTCTTGTTATTTCCATAATGCCCTGCGGGACTTCTTTTTAACCCTCATCCAGGACCCAGTCAGGGATCGTACGTTATATTCACTCCTCATGTCTTATGAGTTTTCAGTTTCCTTTAATCTAGAATCCCCTAGACTTTTATTTTCTTCTGGTCTTTTGATGTTTTTGGTATGTATAGTTTTATCGTATTATGAAATAGATGCTATTTAAACATTTTGCCTTTTACTGAGTCAAATAACTTTTTTGTTTTTAAGGTGGGTCATGATAACTGGGTACGTGGAGTTCTGTTCCATTCTGGGGGGAAGTTTATTTTGAGTTGTGCTGATGACAAGACCCTACGCGTATGGGATTACAAGAACAAGCGATGCATGAAGACCCTCAATGCGCATGAACACTTTGTTACCTCCTTGGGTATGTACGCCTCGCGAGGTCTCTGAACATTAGATTTTGGAGTGCCAGACAAACTGTGTTTTACATAATCGTGTGGACTTTGCCAGGTAAGAAATGACTGTGCTTTCAGGGCAGAATAGAGAAGACATGAAAATCTTGTGGATTCCTACCATTTGTTTTAAATTCTCCTTTCCCGTTAACTCTTTCCATCGTTAGCCTTATAATAAAAACATTACTTTCTCCACTGCACAACATTGGTTTTGGAAACCACAATTTGTGAAGAGGTTACTTACCACTCTGATGGGTAATTTTTCTCCCCTATTAGTTTGTTTCTCAAACAAAATCTTCCTCAACCTTTCCCACTGGCAGGTGTATACTATCAGATACTAGAAACTCAGAAAATTGTATTTGATTTGAGTAAACATCCTCACTATCATCTGGACTTGAATCTGGAATTTAAGAGAGTGAATACAGTCAAGTATAATAAATGCACTAAAGTATAATGGACCAAAGCCTGCGTAAGGTGGGCTAATACCTGCCTCACAGGATTGGTTCAAGGATTAGGCACAAATACGGAGCATTTATGCCATGCCTGGAACATCGTGTTCAGTAAATGGATATGGCGAGACTGTGTATTGTTAGATTTGAGCCCTGCTGTGCCTTAGTCCCAGCTACTCAGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGGAGTTCTGGGTTACAGTGTGCTGTGCTGATGGGATGTTTGCACTAAGTGCAGCATCAATATGGTGACCTCCTGGGAACAGGAGACTCCCAGGTTGCCTAAGGAGGGGTGACCTGGCCCAGGTCAGAAACAGAGCAGGTCAAAACTCCCTTGCTGATCAGTAGTGGGATCGCACCTTTGAACAGCCACTGCACTCCAGCCTGGGCAACATAGTGAGACCCTGCCTTTGAAAAAAGAAGAAAAAGGATTTGAGCCCCATTTGGGATGGGCCAAAGAGGAACAGGCGTTTTTATTGAGATGTTAATACAGGATTTGATCATTGAGTCTCAACTTCCCTAACTGAATTGGCAAACTAGATACCTTCTTGGGTTATGGTATATTAGAGAAACACGAAAACTACTGGCATTTGGACTTTCTTAGAATTTTGTGGCTCATTAAAAATTGTATCTGGCTCAGTGTGATGGAGGGTTGGGACCGGGCAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAGTCATGGCTCGCTGCAGCCTCGACTTCCCAGCTCAAACAGTTCTGCATCAGTCTCCCGAGTAGCTGGGACTACAGGCACACACTACCATGCCCGGCTAATTTTTTTTTTAATTTTGTATTTTGTAGAGAGGGGGTCTCACTATGTTTGTTGTCCAGGCTTACGTGTGAGTTTTAAATAAACCATTTCTTTTTCTTTCAGATTTCCACAAGACGGCACCCTATGTCGTCACTGGCAGCGTACATCAAACAGTAAAAGTGTGGGAGTGCCGTTGATTGTGTCTCCTTCGGCCCCTCCTCCCTCTTTTCCTCTGGATGCACTCTGATGATACCATGGTTACCCCATTGAGCTCTGTTTAAATAAATATTGTCCTTTCATGTAAATTATTCTGGATGTAGATTGAGCTTATTAAATGTTACACACAAAGTATTCATGCATGGTGAATCCAAATTGTATACTGTAAATTTACATACGTTGTCTAGAAGTACCATAGGGTTTAAAAACCTGGGCTGGCATTGGTCACACCAGGCCTAAGAAGGCAGAAGTTGAATCAATTGAACTAGGGCACTAAACTGAATAGTTGACAGTGTCATTTTATGTTGGATTATTAATTCCTGTTTTTCTTTCTGCTATCTGTTGGTGCCTGACTTGATGGCCTCATTTGGGGAAAAGTGGTGGTTATTAGGGCTTTTTCTGAAATGTGTATCTATGTAACATCACTTAAGTGTGCTTAATAAATCTTCTGTAAGGATTTTAGATGATAAGGCTACAATTCAGAATCTTCTGAACCATCTATGTAATGAATGGGGATTATACATTGGAATTTTTGTCATGACACATTTGCCAAATCAGTAGGATATATTTGTTTTGGCAGCCTATCACGCAGAGGCTAGTGGTATATTTATGTAAGAAAATGACTGTAAATCTCAAGAAAAATCTCAGCAGCTAATAGCAACTCATTTATTTCATTTTGGTCTTAATGCTTTGTAAACAGGTCAAAAAATACTGTCATACTCTAAGCTTCTATTTTCCACACTGGACATACTTCTAGTTGTATTCTCCATACTATTAGACTGTGTAGTGATGTGACTTCCAAGTAGAATTTAATCTCCCCATTGAGTGTGTCATGGTACAAATCACTATTCGTTTTTGGTGTTTTTTAGGGATGTGCAATGTGCATTACATAATGACAGAAATACTGAGAAGGTTCTGTGTGCCCATTTGAAAGGAGTGGGAGGAATACAGCAGTTTGTTTTTCAACATGAATCTGATATTGATTTAAACTGTGTTTCACTTACAAGTTTTAAAAAAATGACAGGGTTTAATGGAGCGTGCATAAAAATGTACTGTTTTCACCTTTTGTTTATATGTAAATGTTTGTAAGTATATGGGCCTATCTGTAAGTGGATAAGTCTGTATGTGTGTATCATACACATCAACCTCCATGTCCTTAGTCCTGGGTTTTTGAAAAAGTGCTAAAACGGACAAGTAGAATAAATGTTGCTGTGGAATGCCATGCTTTAGAACAAACCCTTTTTGATCTTAATGCTTCTGAAAACTAGGTCTGACTCTGGGGATTTTTTTCCAGCCGAAGGAAAATCACTTCCGTTATGTCCCCCTCTAATTTAGCCGCTCGACATTTTACACAACCCGGATATGTTGTATATTTTGACCCAAAGTTACAGGTAGGTTTAAGAGAATTTTTAGCCATGACTTTTGGAGCACTATTCCATTGTCAGTTATTAATAAAGAATTCCATTGCTTAGCTAACCAACAGGTTTTTTTTGTTTCCAAGAGAGTTATTTGAAAAGTTAACAGAACAATGAGATAACAGTGACAGTTTAACAAAGATAAAATTCTGAACTGCGTTTTATTCATTTGTGTACTATGTGATTTTTTAAATGTCCCCTTTAGTATTTAATGGAAAATTGGTTCCTGCAAAAGACAAAGGGTGAGAGTTAGCGTCCTGTAGATACACACAGAGACTAGGCCGTATATTAACTAGAAGCAGCTTTATGTCTAGCTTGTGTCTTTTTGTTTGTTTGCTTGTTTGTTTTTAGATTCCTGAGAGATGTCTCTGGAAGGGAAAGTTTTGAGAACTAATGGCTATTTTTGAGGACAAAAATTACATCTTAAGCTAATTCCTTAAATACATACAGTAGGTGAATTTTCAGGACAATATTGCCTCACAACCCTGCTTACATTGAAAAGTCTTTTTCCCTTAGCTCTTCTGACTGGATTTTTCTACAAAAACTATGGAAAATATCTTTGTTCTTGTTTGCTGCTATTT
Task1_train_23206
A variant found in Chromosome 17 affects ASPA, SPATA22 (aspartoacylase| spermatogenesis associated 22). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Spongy degeneration of central nervous system
TGGGAAATAATTGCTGCAATTCATTAACTCTCAAAAAAGTTATTCATTTTGACATGTAAGAGAAACTTTATTTATGAATGTGAAATGTGCTTCAAAGTGCTGATCTGTTAAAATTCCATAAAACAAGCTTCAAAATGCAAGTCATTTGTGCCAGCTACGAGTAAATAACTGAAGCAGCATTTCCAGAGAGACTAGGGCAAAGGACAGAACAAACTACAAATCAGCAGAAAAGAAACCAAGCATAGTAGAGTGTTAATAATTCACCATGGTTACTGCTCTTAAAACCAAAGCAACTAAACAACTGTCATCTGTTTACTTTTACGTGTGTTTTCATCATCTCTACACCGTCTGAAGTGTTCAGTGTACATGGATGTGGACAGACAGTCAAAGCCTACAGGAGCTTTTTTTTTCTATTAGAACAGTCATTTTAATGCATAGATTTGATGTGGTTATTTTGCTTTCTCTATCTCTGCATTATAAGCTCTTAAAGGAAGAACATTCAGTGGGTTTATTAAATATTAGGAAGCATTCATATTTTATTTTTCCACCATGTATTTGGTTTGTATGCATGTTTGTTTCCTGAGCACACTGTAATGGCTGTTTATGTGAATTCTGAAAGAGCAAAACTAGAACTGTGAAGAAGACCAAAAATAACAGAGAGGCACCCTATTGTCCTGTGAAAAACACTAGACTTGGGATGAGAAACATGGGTCTCAGGCCTAGGTTCTCCTACATCCCTGCAGAACCTTAACTGAGTTACTTAACCTCTCTTTCGTTTACCCCTGCAGTGGGGATGTCAACACCTAACCCACCCTATCGTATAAAATTAATGTATGAATAAACTGAGTGAAAGGACATTATAAATTAAACTCTGCAATTGTAATAAATTACTCTTATTGTACCCTCTATCAAACAACCTGGCGTTACTAGTACATGGTATTCCCAGTACTTGAACATATGTGACTTTCTGGGTGACTGAGCATGAAATCAAATCAGATTTGGCTCAGAGTCATTTCTCCAAAGGGATGTAATCATCTTAGTATTCTGGAAAATTTCCCCTAATAAGACCCCTTTTTGAGTAACACAGTCCAGTGGAGAGTCCCCGCTGACAGTGAATAAGGCTGTGTCTATGTAAGTTCACATGATGTGGTTAGCACATGCAGTGTGTCCCAAGACATTTTCAGGCATCACAAAAACTTGAAAAGTACTAACAGTTGTCTTTCCTTTGGTATTTAGGCAAAAAATGAGGAAGATTCATAAGTAAGTTAACACAGAATTACCAAAAACCTCATGAGAAAGAAATGAAGGGATGTTTCAGGGTAGCTTTTCGAGTCCCAAGTGATCATTGATTTGGCCCTTCTGTTTCTGATTGTGAAAAAGCATTCTGAAAGAATGGGCGCCGGTTCAAGAGGAGGTCTCTGAGGGTCAGCCTTTGGCTGTTTATAGAGGTGAGATTCAAATGCCCTCAGATCATGAAAAGTGCTTGAACTCATTTCAGAGAAGAAATGTTTTGAAATGCCCGTGGAAATACTGAGTGGGCCACTTTTTTATTTTGTGAAATTAGAAACGTATAAACTATTTTTATTATTACAGATAATTGTGAAAGCCTCACTGGATGACATCCTAGCTGAGGAAAAGAATGGAATTTTTGTATTAGTATGAAATGCTAATTTATTACTGTATTTAGATCTACTGACCATCTGAGGGAGTTAGAAGTTAAAGTAAACAGCTGTATCTCTAGTTGATCTTTGCATATTTTAATCCAAATATGGCAAAGGGCAGGGCTAAAGAAGGGAGTGTCCATAAACGGGGCTCAGAACTTGTAACAGAAAATTAAAATATACTCCACTCAAGGGAATTCTGTACTTTGCCCTTTGGGTAAAGTCTCATTTACATTTCTAAACCTTTCTTAAGAAAATCGAATTTCCTTTGATCTCTCTTCTGAATTGCAGAAATCAGATAAAAACTACTTGGTGAAATGACTTCTTGTCACATTGCTGAAGAACATATACAAAAGGTTGCTATCTTTGGAGGAACCCATGGGAATGAGCTAACCGGAGTATTTCTGGTTAAGCATTGGCTAGAGAATGGCGCTGAGATTCAGAGAACAGGGCTGGAGGTAAAACCATTTATTACTAACCCCAGAGCAGTGAAGAAGTGTACCAGATATATTGACTGTGACCTGAATCGCATTTTTGACCTTGAAAATCTTGGGTAAGACTATGCTTTGTATTGTATATGTATGTATGTTGTGTGAAAAGTGGTAGGTGTGTGAAAGAGAACACATATATGTATATGCAGATGATAATTCATGTCCGTACATGCAGTCGTATGTTGAATAAGATCACTTTCACTTTTAATTATACTGCATTGTGAATTGCACAATTATCTAAACTGGGCATTCACATGCTCTTTTATAAACCTTCTTAAGCACCAGATTATTAAGTTTTCTTTTCAAATGTATACAGACTGAGACAATAAATAGAAAAGGGTTTTGTTTTAAAATCATACCTTTAAAGAAACAGATTTAATACTCCTTTGCATTGAGTTAGTGTTTGGCCACTATGCTTGCATATAAAATTGTTAGCTTTTTAGGAAATTCACTACGTTTTCAAGCAACTATGCTTACGGTAATGCATAAAGTTCTAGTTCAAAAAATGTAATGTTTCAAGTAATATTTGTTGAATGAAAGCGTGATTAAATATCTTTTGTCAGAAGACATCAGACACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGAGACAGAGCAAGACTCCGTCTCAAAAAAATAAATAAATAAATAAAAATAAAGACATCAGACCTCCCTGTGATCCGAAGTAGCAGACGTACTTAACTTCCATGGTGGATTGTTGTAGATGGGATACCAGAGATGAGAACTAAAGACACCATCTGAATTTTCAGAGCTTATATTTTGCTGATTTGTAATATATTGCATACAACGTAAGCAGTCATAACATGCTAGGTTAGGTCCTTATTAATTATTTTTGCCTTCGTTTACATCATAATAGCTACCACTGTGGATATAATATGACTCCACATATTTGCTTTTTACCACTTCTTTCTTTCTTTCTCTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGTCTGGAGTGCAATGGTGCAATCTCAGCTCACTGCAGCCTCCACCTCCGGGTTAAAGTGATTCTCCTGCCTCAACCTCCCGAGTAGCTGGGATTACAGGCACTTGCCACCATGTCCGGGTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCTGGGCCGCTTTTTTTCTTTTACTAAAAAATATTCTGAAACATCTGTTTTTCTCAGGAAACTGTGCCAGGTACTGGGGGAGTACACAGCTCTATACAACTTGGTTTCTACCCCTCAAGGAGTTGGTAGACTACTAGCTAAGATATAAGATACATGGCCGGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGCAGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTAAAACCCCGTCTCTACTAAAAAAAATACAAAAAATTAGCCGGGCATGGTGGCGGGCACCTGTAGTCCCAGCTATTCGGGAGACTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCAGAGATGGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATATATATATATATAAGATATGCACAGGCACAACTAGCCACTGTTCTATGTGCTTGTTTTCTGATCAACTCTAATTTGAGTTA
TGGGAAATAATTGCTGCAATTCATTAACTCTCAAAAAAGTTATTCATTTTGACATGTAAGAGAAACTTTATTTATGAATGTGAAATGTGCTTCAAAGTGCTGATCTGTTAAAATTCCATAAAACAAGCTTCAAAATGCAAGTCATTTGTGCCAGCTACGAGTAAATAACTGAAGCAGCATTTCCAGAGAGACTAGGGCAAAGGACAGAACAAACTACAAATCAGCAGAAAAGAAACCAAGCATAGTAGAGTGTTAATAATTCACCATGGTTACTGCTCTTAAAACCAAAGCAACTAAACAACTGTCATCTGTTTACTTTTACGTGTGTTTTCATCATCTCTACACCGTCTGAAGTGTTCAGTGTACATGGATGTGGACAGACAGTCAAAGCCTACAGGAGCTTTTTTTTTCTATTAGAACAGTCATTTTAATGCATAGATTTGATGTGGTTATTTTGCTTTCTCTATCTCTGCATTATAAGCTCTTAAAGGAAGAACATTCAGTGGGTTTATTAAATATTAGGAAGCATTCATATTTTATTTTTCCACCATGTATTTGGTTTGTATGCATGTTTGTTTCCTGAGCACACTGTAATGGCTGTTTATGTGAATTCTGAAAGAGCAAAACTAGAACTGTGAAGAAGACCAAAAATAACAGAGAGGCACCCTATTGTCCTGTGAAAAACACTAGACTTGGGATGAGAAACATGGGTCTCAGGCCTAGGTTCTCCTACATCCCTGCAGAACCTTAACTGAGTTACTTAACCTCTCTTTCGTTTACCCCTGCAGTGGGGATGTCAACACCTAACCCACCCTATCGTATAAAATTAATGTATGAATAAACTGAGTGAAAGGACATTATAAATTAAACTCTGCAATTGTAATAAATTACTCTTATTGTACCCTCTATCAAACAACCTGGCGTTACTAGTACATGGTATTCCCAGTACTTGAACATATGTGACTTTCTGGGTGACTGAGCATGAAATCAAATCAGATTTGGCTCAGAGTCATTTCTCCAAAGGGATGTAATCATCTTAGTATTCTGGAAAATTTCCCCTAATAAGACCCCTTTTTGAGTAACACAGTCCAGTGGAGAGTCCCCGCTGACAGTGAATAAGGCTGTGTCTATGTAAGTTCACATGATGTGGTTAGCACATGCAGTGTGTCCCAAGACATTTTCAGGCATCACAAAAACTTGAAAAGTACTAACAGTTGTCTTTCCTTTGGTATTTAGGCAAAAAATGAGGAAGATTCATAAGTAAGTTAACACAGAATTACCAAAAACCTCATGAGAAAGAAATGAAGGGATGTTTCAGGGTAGCTTTTCGAGTCCCAAGTGATCATTGATTTGGCCCTTCTGTTTCTGATTGTGAAAAAGCATTCTGAAAGAATGGGCGCCGGTTCAAGAGGAGGTCTCTGAGGGTCAGCCTTTGGCTGTTTATAGAGGTGAGATTCAAATGCCCTCAGATCATGAAAAGTGCTTGAACTCATTTCAGAGAAGAAATGTTTTGAAATGCCCGTGGAAATACTGAGTGGGCCACTTTTTTATTTTGTGAAATTAGAAACGTATAAACTATTTTTATTATTACAGATAATTGTGAAAGCCTCACTGGATGACATCCTAGCTGAGGAAAAGAATGGAATTTTTGTATTAGTATGAAATGCTAATTTATTACTGTATTTAGATCTACTGACCATCTGAGGGAGTTAGAAGTTAAAGTAAACAGCTGTATCTCTAGTTGATCTTTGCATATTTTAATCCAAATATGGCAAAGGGCAGGGCTAAAGAAGGGAGTGTCCATAAACGGGGCTCAGAACTTGTAACAGAAAATTAAAATATACTCCACTCAAGGGAATTCTGTACTTTGCCCTTTGGGTAAAGTCTCATTTACATTTCTAAACCTTTCTTAAGAAAATCGAATTTCCTTTGATCTCTCTTCTGAATTGCAGAAATCAGATAAAAACTACTTGGTGAAATGACTTCTTGTCACATTGCTGAAGAACATATACAAAAGGTTGCTATCTTTGGAGGAACCCATGGGAATGGGCTAACCGGAGTATTTCTGGTTAAGCATTGGCTAGAGAATGGCGCTGAGATTCAGAGAACAGGGCTGGAGGTAAAACCATTTATTACTAACCCCAGAGCAGTGAAGAAGTGTACCAGATATATTGACTGTGACCTGAATCGCATTTTTGACCTTGAAAATCTTGGGTAAGACTATGCTTTGTATTGTATATGTATGTATGTTGTGTGAAAAGTGGTAGGTGTGTGAAAGAGAACACATATATGTATATGCAGATGATAATTCATGTCCGTACATGCAGTCGTATGTTGAATAAGATCACTTTCACTTTTAATTATACTGCATTGTGAATTGCACAATTATCTAAACTGGGCATTCACATGCTCTTTTATAAACCTTCTTAAGCACCAGATTATTAAGTTTTCTTTTCAAATGTATACAGACTGAGACAATAAATAGAAAAGGGTTTTGTTTTAAAATCATACCTTTAAAGAAACAGATTTAATACTCCTTTGCATTGAGTTAGTGTTTGGCCACTATGCTTGCATATAAAATTGTTAGCTTTTTAGGAAATTCACTACGTTTTCAAGCAACTATGCTTACGGTAATGCATAAAGTTCTAGTTCAAAAAATGTAATGTTTCAAGTAATATTTGTTGAATGAAAGCGTGATTAAATATCTTTTGTCAGAAGACATCAGACACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGAGACAGAGCAAGACTCCGTCTCAAAAAAATAAATAAATAAATAAAAATAAAGACATCAGACCTCCCTGTGATCCGAAGTAGCAGACGTACTTAACTTCCATGGTGGATTGTTGTAGATGGGATACCAGAGATGAGAACTAAAGACACCATCTGAATTTTCAGAGCTTATATTTTGCTGATTTGTAATATATTGCATACAACGTAAGCAGTCATAACATGCTAGGTTAGGTCCTTATTAATTATTTTTGCCTTCGTTTACATCATAATAGCTACCACTGTGGATATAATATGACTCCACATATTTGCTTTTTACCACTTCTTTCTTTCTTTCTCTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGTCTGGAGTGCAATGGTGCAATCTCAGCTCACTGCAGCCTCCACCTCCGGGTTAAAGTGATTCTCCTGCCTCAACCTCCCGAGTAGCTGGGATTACAGGCACTTGCCACCATGTCCGGGTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCTGGGCCGCTTTTTTTCTTTTACTAAAAAATATTCTGAAACATCTGTTTTTCTCAGGAAACTGTGCCAGGTACTGGGGGAGTACACAGCTCTATACAACTTGGTTTCTACCCCTCAAGGAGTTGGTAGACTACTAGCTAAGATATAAGATACATGGCCGGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGCAGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTAAAACCCCGTCTCTACTAAAAAAAATACAAAAAATTAGCCGGGCATGGTGGCGGGCACCTGTAGTCCCAGCTATTCGGGAGACTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCAGAGATGGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATATATATATATATAAGATATGCACAGGCACAACTAGCCACTGTTCTATGTGCTTGTTTTCTGATCAACTCTAATTTGAGTTA
Task1_train_23207
A variant found in Chromosome 17 affects ASPA, SPATA22 (aspartoacylase| spermatogenesis associated 22). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Inborn genetic diseases
GTCATTTGTGCCAGCTACGAGTAAATAACTGAAGCAGCATTTCCAGAGAGACTAGGGCAAAGGACAGAACAAACTACAAATCAGCAGAAAAGAAACCAAGCATAGTAGAGTGTTAATAATTCACCATGGTTACTGCTCTTAAAACCAAAGCAACTAAACAACTGTCATCTGTTTACTTTTACGTGTGTTTTCATCATCTCTACACCGTCTGAAGTGTTCAGTGTACATGGATGTGGACAGACAGTCAAAGCCTACAGGAGCTTTTTTTTTCTATTAGAACAGTCATTTTAATGCATAGATTTGATGTGGTTATTTTGCTTTCTCTATCTCTGCATTATAAGCTCTTAAAGGAAGAACATTCAGTGGGTTTATTAAATATTAGGAAGCATTCATATTTTATTTTTCCACCATGTATTTGGTTTGTATGCATGTTTGTTTCCTGAGCACACTGTAATGGCTGTTTATGTGAATTCTGAAAGAGCAAAACTAGAACTGTGAAGAAGACCAAAAATAACAGAGAGGCACCCTATTGTCCTGTGAAAAACACTAGACTTGGGATGAGAAACATGGGTCTCAGGCCTAGGTTCTCCTACATCCCTGCAGAACCTTAACTGAGTTACTTAACCTCTCTTTCGTTTACCCCTGCAGTGGGGATGTCAACACCTAACCCACCCTATCGTATAAAATTAATGTATGAATAAACTGAGTGAAAGGACATTATAAATTAAACTCTGCAATTGTAATAAATTACTCTTATTGTACCCTCTATCAAACAACCTGGCGTTACTAGTACATGGTATTCCCAGTACTTGAACATATGTGACTTTCTGGGTGACTGAGCATGAAATCAAATCAGATTTGGCTCAGAGTCATTTCTCCAAAGGGATGTAATCATCTTAGTATTCTGGAAAATTTCCCCTAATAAGACCCCTTTTTGAGTAACACAGTCCAGTGGAGAGTCCCCGCTGACAGTGAATAAGGCTGTGTCTATGTAAGTTCACATGATGTGGTTAGCACATGCAGTGTGTCCCAAGACATTTTCAGGCATCACAAAAACTTGAAAAGTACTAACAGTTGTCTTTCCTTTGGTATTTAGGCAAAAAATGAGGAAGATTCATAAGTAAGTTAACACAGAATTACCAAAAACCTCATGAGAAAGAAATGAAGGGATGTTTCAGGGTAGCTTTTCGAGTCCCAAGTGATCATTGATTTGGCCCTTCTGTTTCTGATTGTGAAAAAGCATTCTGAAAGAATGGGCGCCGGTTCAAGAGGAGGTCTCTGAGGGTCAGCCTTTGGCTGTTTATAGAGGTGAGATTCAAATGCCCTCAGATCATGAAAAGTGCTTGAACTCATTTCAGAGAAGAAATGTTTTGAAATGCCCGTGGAAATACTGAGTGGGCCACTTTTTTATTTTGTGAAATTAGAAACGTATAAACTATTTTTATTATTACAGATAATTGTGAAAGCCTCACTGGATGACATCCTAGCTGAGGAAAAGAATGGAATTTTTGTATTAGTATGAAATGCTAATTTATTACTGTATTTAGATCTACTGACCATCTGAGGGAGTTAGAAGTTAAAGTAAACAGCTGTATCTCTAGTTGATCTTTGCATATTTTAATCCAAATATGGCAAAGGGCAGGGCTAAAGAAGGGAGTGTCCATAAACGGGGCTCAGAACTTGTAACAGAAAATTAAAATATACTCCACTCAAGGGAATTCTGTACTTTGCCCTTTGGGTAAAGTCTCATTTACATTTCTAAACCTTTCTTAAGAAAATCGAATTTCCTTTGATCTCTCTTCTGAATTGCAGAAATCAGATAAAAACTACTTGGTGAAATGACTTCTTGTCACATTGCTGAAGAACATATACAAAAGGTTGCTATCTTTGGAGGAACCCATGGGAATGAGCTAACCGGAGTATTTCTGGTTAAGCATTGGCTAGAGAATGGCGCTGAGATTCAGAGAACAGGGCTGGAGGTAAAACCATTTATTACTAACCCCAGAGCAGTGAAGAAGTGTACCAGATATATTGACTGTGACCTGAATCGCATTTTTGACCTTGAAAATCTTGGGTAAGACTATGCTTTGTATTGTATATGTATGTATGTTGTGTGAAAAGTGGTAGGTGTGTGAAAGAGAACACATATATGTATATGCAGATGATAATTCATGTCCGTACATGCAGTCGTATGTTGAATAAGATCACTTTCACTTTTAATTATACTGCATTGTGAATTGCACAATTATCTAAACTGGGCATTCACATGCTCTTTTATAAACCTTCTTAAGCACCAGATTATTAAGTTTTCTTTTCAAATGTATACAGACTGAGACAATAAATAGAAAAGGGTTTTGTTTTAAAATCATACCTTTAAAGAAACAGATTTAATACTCCTTTGCATTGAGTTAGTGTTTGGCCACTATGCTTGCATATAAAATTGTTAGCTTTTTAGGAAATTCACTACGTTTTCAAGCAACTATGCTTACGGTAATGCATAAAGTTCTAGTTCAAAAAATGTAATGTTTCAAGTAATATTTGTTGAATGAAAGCGTGATTAAATATCTTTTGTCAGAAGACATCAGACACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGAGACAGAGCAAGACTCCGTCTCAAAAAAATAAATAAATAAATAAAAATAAAGACATCAGACCTCCCTGTGATCCGAAGTAGCAGACGTACTTAACTTCCATGGTGGATTGTTGTAGATGGGATACCAGAGATGAGAACTAAAGACACCATCTGAATTTTCAGAGCTTATATTTTGCTGATTTGTAATATATTGCATACAACGTAAGCAGTCATAACATGCTAGGTTAGGTCCTTATTAATTATTTTTGCCTTCGTTTACATCATAATAGCTACCACTGTGGATATAATATGACTCCACATATTTGCTTTTTACCACTTCTTTCTTTCTTTCTCTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGTCTGGAGTGCAATGGTGCAATCTCAGCTCACTGCAGCCTCCACCTCCGGGTTAAAGTGATTCTCCTGCCTCAACCTCCCGAGTAGCTGGGATTACAGGCACTTGCCACCATGTCCGGGTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCTGGGCCGCTTTTTTTCTTTTACTAAAAAATATTCTGAAACATCTGTTTTTCTCAGGAAACTGTGCCAGGTACTGGGGGAGTACACAGCTCTATACAACTTGGTTTCTACCCCTCAAGGAGTTGGTAGACTACTAGCTAAGATATAAGATACATGGCCGGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGCAGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTAAAACCCCGTCTCTACTAAAAAAAATACAAAAAATTAGCCGGGCATGGTGGCGGGCACCTGTAGTCCCAGCTATTCGGGAGACTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCAGAGATGGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATATATATATATATAAGATATGCACAGGCACAACTAGCCACTGTTCTATGTGCTTGTTTTCTGATCAACTCTAATTTGAGTTAGATCACTCCTTAGGTTTAGTCTCAACACAGATCAAAACATGGACACTACTCTTAATAGAAACATGCCTCACTTTATGGAATAGATGTTTTTCAGGGCAATTATACTGCAGTCATCCTGTTTGTATCAAATCATATTTTTA
GTCATTTGTGCCAGCTACGAGTAAATAACTGAAGCAGCATTTCCAGAGAGACTAGGGCAAAGGACAGAACAAACTACAAATCAGCAGAAAAGAAACCAAGCATAGTAGAGTGTTAATAATTCACCATGGTTACTGCTCTTAAAACCAAAGCAACTAAACAACTGTCATCTGTTTACTTTTACGTGTGTTTTCATCATCTCTACACCGTCTGAAGTGTTCAGTGTACATGGATGTGGACAGACAGTCAAAGCCTACAGGAGCTTTTTTTTTCTATTAGAACAGTCATTTTAATGCATAGATTTGATGTGGTTATTTTGCTTTCTCTATCTCTGCATTATAAGCTCTTAAAGGAAGAACATTCAGTGGGTTTATTAAATATTAGGAAGCATTCATATTTTATTTTTCCACCATGTATTTGGTTTGTATGCATGTTTGTTTCCTGAGCACACTGTAATGGCTGTTTATGTGAATTCTGAAAGAGCAAAACTAGAACTGTGAAGAAGACCAAAAATAACAGAGAGGCACCCTATTGTCCTGTGAAAAACACTAGACTTGGGATGAGAAACATGGGTCTCAGGCCTAGGTTCTCCTACATCCCTGCAGAACCTTAACTGAGTTACTTAACCTCTCTTTCGTTTACCCCTGCAGTGGGGATGTCAACACCTAACCCACCCTATCGTATAAAATTAATGTATGAATAAACTGAGTGAAAGGACATTATAAATTAAACTCTGCAATTGTAATAAATTACTCTTATTGTACCCTCTATCAAACAACCTGGCGTTACTAGTACATGGTATTCCCAGTACTTGAACATATGTGACTTTCTGGGTGACTGAGCATGAAATCAAATCAGATTTGGCTCAGAGTCATTTCTCCAAAGGGATGTAATCATCTTAGTATTCTGGAAAATTTCCCCTAATAAGACCCCTTTTTGAGTAACACAGTCCAGTGGAGAGTCCCCGCTGACAGTGAATAAGGCTGTGTCTATGTAAGTTCACATGATGTGGTTAGCACATGCAGTGTGTCCCAAGACATTTTCAGGCATCACAAAAACTTGAAAAGTACTAACAGTTGTCTTTCCTTTGGTATTTAGGCAAAAAATGAGGAAGATTCATAAGTAAGTTAACACAGAATTACCAAAAACCTCATGAGAAAGAAATGAAGGGATGTTTCAGGGTAGCTTTTCGAGTCCCAAGTGATCATTGATTTGGCCCTTCTGTTTCTGATTGTGAAAAAGCATTCTGAAAGAATGGGCGCCGGTTCAAGAGGAGGTCTCTGAGGGTCAGCCTTTGGCTGTTTATAGAGGTGAGATTCAAATGCCCTCAGATCATGAAAAGTGCTTGAACTCATTTCAGAGAAGAAATGTTTTGAAATGCCCGTGGAAATACTGAGTGGGCCACTTTTTTATTTTGTGAAATTAGAAACGTATAAACTATTTTTATTATTACAGATAATTGTGAAAGCCTCACTGGATGACATCCTAGCTGAGGAAAAGAATGGAATTTTTGTATTAGTATGAAATGCTAATTTATTACTGTATTTAGATCTACTGACCATCTGAGGGAGTTAGAAGTTAAAGTAAACAGCTGTATCTCTAGTTGATCTTTGCATATTTTAATCCAAATATGGCAAAGGGCAGGGCTAAAGAAGGGAGTGTCCATAAACGGGGCTCAGAACTTGTAACAGAAAATTAAAATATACTCCACTCAAGGGAATTCTGTACTTTGCCCTTTGGGTAAAGTCTCATTTACATTTCTAAACCTTTCTTAAGAAAATCGAATTTCCTTTGATCTCTCTTCTGAATTGCAGAAATCAGATAAAAACTACTTGGTGAAATGACTTCTTGTCACATTGCTGAAGAACATATACAAAAGGTTGCTATCTTTGGAGGAACCCATGGGAATGAGCTAACCGGAGTATTTCTGGTTAAGCATTGGCTAGAGAATGGCGCTGAGATTCAGAGAACAGGGCTGGAGGTAAAACCATTTATTACTAACCCCAGAGCAGTGAAGAAGTGTACCAGATATATTGACTGTGACCTGAATAGCATTTTTGACCTTGAAAATCTTGGGTAAGACTATGCTTTGTATTGTATATGTATGTATGTTGTGTGAAAAGTGGTAGGTGTGTGAAAGAGAACACATATATGTATATGCAGATGATAATTCATGTCCGTACATGCAGTCGTATGTTGAATAAGATCACTTTCACTTTTAATTATACTGCATTGTGAATTGCACAATTATCTAAACTGGGCATTCACATGCTCTTTTATAAACCTTCTTAAGCACCAGATTATTAAGTTTTCTTTTCAAATGTATACAGACTGAGACAATAAATAGAAAAGGGTTTTGTTTTAAAATCATACCTTTAAAGAAACAGATTTAATACTCCTTTGCATTGAGTTAGTGTTTGGCCACTATGCTTGCATATAAAATTGTTAGCTTTTTAGGAAATTCACTACGTTTTCAAGCAACTATGCTTACGGTAATGCATAAAGTTCTAGTTCAAAAAATGTAATGTTTCAAGTAATATTTGTTGAATGAAAGCGTGATTAAATATCTTTTGTCAGAAGACATCAGACACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGAGACAGAGCAAGACTCCGTCTCAAAAAAATAAATAAATAAATAAAAATAAAGACATCAGACCTCCCTGTGATCCGAAGTAGCAGACGTACTTAACTTCCATGGTGGATTGTTGTAGATGGGATACCAGAGATGAGAACTAAAGACACCATCTGAATTTTCAGAGCTTATATTTTGCTGATTTGTAATATATTGCATACAACGTAAGCAGTCATAACATGCTAGGTTAGGTCCTTATTAATTATTTTTGCCTTCGTTTACATCATAATAGCTACCACTGTGGATATAATATGACTCCACATATTTGCTTTTTACCACTTCTTTCTTTCTTTCTCTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGTCTGGAGTGCAATGGTGCAATCTCAGCTCACTGCAGCCTCCACCTCCGGGTTAAAGTGATTCTCCTGCCTCAACCTCCCGAGTAGCTGGGATTACAGGCACTTGCCACCATGTCCGGGTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCTGGGCCGCTTTTTTTCTTTTACTAAAAAATATTCTGAAACATCTGTTTTTCTCAGGAAACTGTGCCAGGTACTGGGGGAGTACACAGCTCTATACAACTTGGTTTCTACCCCTCAAGGAGTTGGTAGACTACTAGCTAAGATATAAGATACATGGCCGGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGCAGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTAAAACCCCGTCTCTACTAAAAAAAATACAAAAAATTAGCCGGGCATGGTGGCGGGCACCTGTAGTCCCAGCTATTCGGGAGACTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCAGAGATGGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATATATATATATATAAGATATGCACAGGCACAACTAGCCACTGTTCTATGTGCTTGTTTTCTGATCAACTCTAATTTGAGTTAGATCACTCCTTAGGTTTAGTCTCAACACAGATCAAAACATGGACACTACTCTTAATAGAAACATGCCTCACTTTATGGAATAGATGTTTTTCAGGGCAATTATACTGCAGTCATCCTGTTTGTATCAAATCATATTTTTA
Task1_train_23208
A variant found in Chromosome 17 affects ASPA, SPATA22 (aspartoacylase| spermatogenesis associated 22). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Spongy degeneration of central nervous system
TCTACCTTCCCAGTGCACTATCTCAAGATGCCGGCTTTGTCCTCATGGTTTTTGCTTCAAAGTCACAAAATAACTACTCCACCTTCCTGATCTCATTCCAGGCAGGAATTAGCCCATTGTACACAGTAGGTCCCTTGAAGATACTAGCAAAAATAACCAAGGAATACAAATAGATGGAATTTTAGGAAAATGTGGTTGAACGGTTTAATGAGGAAAAGTAAATGAAAAACATTATTATATCTAGAAAAAAAATGTATCTTAACCATTGTGGGAAGTGGGGAGAGGGTAGAGGCCCATTTGAGAATGGAAGAAAAACTACTGGCCCTTGTGCCAGAAAAAAAATACATATATCTGTACCTGCAAACTTGTGGCCTTTTTGGAGAGGTTAGACTCTGAAAACTCTGTCCCTGGACCTCTAGTGGTTCCTGGACCTCAATTAAGAATCTCTAATTAGGCCAGGTGTGGCTGCTCATACTTGTAATTCCAGCACTTTGGGAGGCCAAGGCAGGAGGATTGCCTGAGGCCAAGACTTCTGTAACCACCCAGCAAGTTCTCCTCATCCGCTGCCCAGACAGAGCTGATTTATCAAGACAAGGGAACTGCAATAAAGAGTTTAATTCACACAGAGCCGGCTGTACAGAAGGCCAGAGTTTTATTATTACTCAAATCAGTCTCCCCGAAAATTCAGACACTGGAATTTTTAAGGATAATTTGGTGGGTAGGGGGCCAGTGAGTCGGGAGTGCTGATTGATCAGATTGAAGGTAAAATCATAGGGAGTTGGAGCTGTCCTCTTGCGCTGAATCAGTTCCTACGTGGGGACCACGAGACCAGATAAGCCAGTTTATCCATCTGGGTGGTGCCAGCTGATCTGTCAACTCAGGGTTTACAAAATATCTCAAGCCCTGATCTTAGGTTTTACAATAGTGATGTTATCCCCAGGAGCAATTTCAGGAGGTTCAGAATCTTGCGGCCCTCCAGCTGCATGACTCCTAAACCATAATTTCTCATCTTGTGGCTAATTTGTTAGTCCTGCAAAGGCAGTCTAGTCCCCAGGTAGGAAGGGGGCTTGTTTTGGGAAAGGGCTGTTATCATCTTTGTTTCAAAGTTAAGCTGTAAGTTCCTCCCAAAGTTAGTTCAGTTTACACCCAGGCATGAACAAGGATAGCTTGGAGATTAGAAGCAAGATGGAGTCAGGTTAGATCTCTTTCATTGTAATAATTGTCTCAGTTATAATTTTTGCAAAGGCAGTTTTAGTTCAAGACCAGCCTGGGCAACAGAGCAAGACTGTATCTCCACAAAAGATAAGAAGATTAGCTGGGCATGGTGGCACGCACCTGTAGTTTCAGCAGCTACTCAGGAGGCTGAGATGGGAAGATTGCTTGAGCCCAGGAGTTTGAGGGTACAGTGATCCATAATTGGGCCACTGCACTCCAGCCTGGGCAACAGAGCAGAATCCTGTCTCAAAAAATTAAAAATTAAAATGATCTCTAATTAGATTATGTGAGCCCCTAAGTGACTATATTTGTGCACTAGAATTAGCTAAAGTGGGGGAAAAAAAGATGCATTTGATGGTCTAGTCCCATAATAAATAACCCAGTGTACCATAACTACTAAGAAACTGTTCATTAAATTAATGGATATGTTGCGTTCAAGATTGAAATCAAATGATAAATTCTGTTTGATATGTCCTATTCATGACCAGCCACATAAATGCACGTATTACTTCGCAAGCATGCCAATGCAACATTAGTTATATGGAATCAAATGAAGAAAAAGAATGTAAGTTTTCATATATAAACATTTCAGGTAAGTTTTTACTTACCACACAGATTTTTCATATTAAAGATTTGGCGACTGGTTCTTTTTACACTGTGTTCTTATTATATGTTTATATTATCTCAGGCACAGATGTTGTTCATCTTTTTCTTTCTGCTTATAACAGCAAAAAAATGTCAGAAGATTTGCCATATGAAGTGAGAAGGGCTCAAGAAATAAATCATTTATTTGGTCCAAAAGACAGTGAAGATTCCTATGACATTATTTTTGACCTTCACAACACCACCTCTAACATGGGGTGCACTCTTATTCTTGAGGATTCCAGGAATAACTTTTTAATTCAGATGTTTCATTACATTAAGGTAATGTTAATGTTATTAATTTATAAGTTAGCAAAGGACTTGTACTTTTAAGTCAATTATGGATGTGAGACAATCAGAAAACAGTTATGAGGGAAGGTGCAAGAGAAATGGGGTTTATTCCATAGCCAGGCTTGGTGGTTGGGGGGAAAGGGTGCTACCAGAACACAGAGGCAGTGGTGAGAGGAAGGAGAAAAAGAGAGGAAATAAGTAAAATAATAAACACAATTAATAAAGTAATAAAACACTTGTGGATTCTTGTGTCTATAAAATTACACGTTTTATCCAGACAGCCACCAGATGGTGGGGTATTTGTTAAAACCAAGTAAAATTAATATTAAAAGTTTAAATGGTATGGTCAATTTGTTAAAACCAAGTAAAATTAATATTAAAACTTTAAATGGTATGGGATCTCAATTACAAGGTTTTAGGAAACTTAAGAAATAGTCCTTTAACGTAGACTAAAGCCCAGTGATAAAAAGATTGCCTCCCTTTAGTCCTGCCCTCGTCCCCATTTGATTTAGACACCCCAGAATACGTCTAATCTTTCAGTACTTCATAATCATTTTAAGGCTCAGAAATCTCAGAGAAAATTTGCTAGAAAATAGCAACCAACCAGAAACACACATAAGGAACTGTATGCTTATTTCTGTGTACTAGATAGCCTTCCTTCCTGAGAGCAAGGATGATTGAGAGGAAAGAGTGTGGCCTGTGCTCAGATCCTGACTTTCTCCTTCACTAACCTTAGACAAAACACACCATTCCCAAAACCTTGCCTCCTTCATTTTATAAAATTGGTGTCATAACAAACAACACTTACCCATAAGGGTACTCAAAGCCTTAAATGACATAAAGTATTTAAAACATTTAGCCTCATACCTGGCCTATAGTAAAGATTATTATTTTTGTTTCCCTTCAGTTTTGGACAGTAACTGGGTAGTGGTCCTGGTAGGAGATCATAATGTAGCGATTCTTTTTTTTTTTAATTTTTTTTAAATTTTATTACTATTATACTTTAAGTTTTAGGGTACATGTGCACCATGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCCGCACCCATTAACTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCCACCCCAATTCTTCATTGCCTATTGAAGAGAGAGCGGAATGCTTTGGTTGCCAGATATGGAAGCAGAATTGCTGACACTTTGTTATCCAAACCAAGAGGCCTGTCTTCAATTTTCATGCAGATAAGCAGGAGGAGGGGGAATCACCCAACATCTGTAGAGAGCTGGACCACAGGAATAGAAACAGAATTGTTTAAGAGACCAATACCAAGCTAAATAGTTAGTGTAACCAGTGATGAAACAAAAATCACCACATCCATTAAGAAAGAACATTTATTTCATGTTTTTTGATCATGGTTCTGGAGAACTATTTAATGTATATTTTACCTGGAAAGACACTGTATAATTCAATTGTATATGAATTTCATATTGTATAATTTATTTGTATGTTTTCAAAGCTATAATACCATTGGGTTTTAAAGTATTTCATAAAGCTGTCTTACCAATCTTAGTTGATGAAGTAAAACGTATTGAAGGTATTATTGACTCTGTTGAAGCAAAGAGAACAAAACATACGGTTTTTACCTAAGAAAGACGTTTTTGATTTTTTTCAGACTTCTCTGGCTCCACTACCCTGCTACGTTTATCTGATTGAGCATCCTTCCCTCAAATATGCGACCACTCGTTCCATAGCCAAGTATCCTGTGGGTAAGTCATAGTTCCCACTGTCATAACTCAATAAAATATGTCCTAGCTGAAACTCAGAGAAATTTATTTTTTATCTTATTTTATTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTCCGATGGTGTGATCTCAGCTCACTGCAACCTCTACCTCTC
TCTACCTTCCCAGTGCACTATCTCAAGATGCCGGCTTTGTCCTCATGGTTTTTGCTTCAAAGTCACAAAATAACTACTCCACCTTCCTGATCTCATTCCAGGCAGGAATTAGCCCATTGTACACAGTAGGTCCCTTGAAGATACTAGCAAAAATAACCAAGGAATACAAATAGATGGAATTTTAGGAAAATGTGGTTGAACGGTTTAATGAGGAAAAGTAAATGAAAAACATTATTATATCTAGAAAAAAAATGTATCTTAACCATTGTGGGAAGTGGGGAGAGGGTAGAGGCCCATTTGAGAATGGAAGAAAAACTACTGGCCCTTGTGCCAGAAAAAAAATACATATATCTGTACCTGCAAACTTGTGGCCTTTTTGGAGAGGTTAGACTCTGAAAACTCTGTCCCTGGACCTCTAGTGGTTCCTGGACCTCAATTAAGAATCTCTAATTAGGCCAGGTGTGGCTGCTCATACTTGTAATTCCAGCACTTTGGGAGGCCAAGGCAGGAGGATTGCCTGAGGCCAAGACTTCTGTAACCACCCAGCAAGTTCTCCTCATCCGCTGCCCAGACAGAGCTGATTTATCAAGACAAGGGAACTGCAATAAAGAGTTTAATTCACACAGAGCCGGCTGTACAGAAGGCCAGAGTTTTATTATTACTCAAATCAGTCTCCCCGAAAATTCAGACACTGGAATTTTTAAGGATAATTTGGTGGGTAGGGGGCCAGTGAGTCGGGAGTGCTGATTGATCAGATTGAAGGTAAAATCATAGGGAGTTGGAGCTGTCCTCTTGCGCTGAATCAGTTCCTACGTGGGGACCACGAGACCAGATAAGCCAGTTTATCCATCTGGGTGGTGCCAGCTGATCTGTCAACTCAGGGTTTACAAAATATCTCAAGCCCTGATCTTAGGTTTTACAATAGTGATGTTATCCCCAGGAGCAATTTCAGGAGGTTCAGAATCTTGCGGCCCTCCAGCTGCATGACTCCTAAACCATAATTTCTCATCTTGTGGCTAATTTGTTAGTCCTGCAAAGGCAGTCTAGTCCCCAGGTAGGAAGGGGGCTTGTTTTGGGAAAGGGCTGTTATCATCTTTGTTTCAAAGTTAAGCTGTAAGTTCCTCCCAAAGTTAGTTCAGTTTACACCCAGGCATGAACAAGGATAGCTTGGAGATTAGAAGCAAGATGGAGTCAGGTTAGATCTCTTTCATTGTAATAATTGTCTCAGTTATAATTTTTGCAAAGGCAGTTTTAGTTCAAGACCAGCCTGGGCAACAGAGCAAGACTGTATCTCCACAAAAGATAAGAAGATTAGCTGGGCATGGTGGCACGCACCTGTAGTTTCAGCAGCTACTCAGGAGGCTGAGATGGGAAGATTGCTTGAGCCCAGGAGTTTGAGGGTACAGTGATCCATAATTGGGCCACTGCACTCCAGCCTGGGCAACAGAGCAGAATCCTGTCTCAAAAAATTAAAAATTAAAATGATCTCTAATTAGATTATGTGAGCCCCTAAGTGACTATATTTGTGCACTAGAATTAGCTAAAGTGGGGGAAAAAAAGATGCATTTGATGGTCTAGTCCCATAATAAATAACCCAGTGTACCATAACTACTAAGAAACTGTTCATTAAATTAATGGATATGTTGCGTTCAAGATTGAAATCAAATGATAAATTCTGTTTGATATGTCCTATTCATGACCAGCCACATAAATGCACGTATTACTTCGCAAGCATGCCAATGCAACATTAGTTATATGGAATCAAATGAAGAAAAAGAATGTAAGTTTTCATATATAAACATTTCAGGTAAGTTTTTACTTACCACACAGATTTTTCATATTAAAGATTTGGCGACTGGTTCTTTTTACACTGTGTTCTTATTATATGTTTATATTATCTCAGGCACAGATGTTGTTCATCTTTTTCTTTCTGCTTATAACAGCAAAAAAATGTCAGAAGATTTGCCATATGAAGTGAGAAGGGCTCAAGAAATAAATCATTTATTTGGTCCAAAAGACAGTGAAGATTCCTATGACATTATTTTTGAACTTCACAACACCACCTCTAACATGGGGTGCACTCTTATTCTTGAGGATTCCAGGAATAACTTTTTAATTCAGATGTTTCATTACATTAAGGTAATGTTAATGTTATTAATTTATAAGTTAGCAAAGGACTTGTACTTTTAAGTCAATTATGGATGTGAGACAATCAGAAAACAGTTATGAGGGAAGGTGCAAGAGAAATGGGGTTTATTCCATAGCCAGGCTTGGTGGTTGGGGGGAAAGGGTGCTACCAGAACACAGAGGCAGTGGTGAGAGGAAGGAGAAAAAGAGAGGAAATAAGTAAAATAATAAACACAATTAATAAAGTAATAAAACACTTGTGGATTCTTGTGTCTATAAAATTACACGTTTTATCCAGACAGCCACCAGATGGTGGGGTATTTGTTAAAACCAAGTAAAATTAATATTAAAAGTTTAAATGGTATGGTCAATTTGTTAAAACCAAGTAAAATTAATATTAAAACTTTAAATGGTATGGGATCTCAATTACAAGGTTTTAGGAAACTTAAGAAATAGTCCTTTAACGTAGACTAAAGCCCAGTGATAAAAAGATTGCCTCCCTTTAGTCCTGCCCTCGTCCCCATTTGATTTAGACACCCCAGAATACGTCTAATCTTTCAGTACTTCATAATCATTTTAAGGCTCAGAAATCTCAGAGAAAATTTGCTAGAAAATAGCAACCAACCAGAAACACACATAAGGAACTGTATGCTTATTTCTGTGTACTAGATAGCCTTCCTTCCTGAGAGCAAGGATGATTGAGAGGAAAGAGTGTGGCCTGTGCTCAGATCCTGACTTTCTCCTTCACTAACCTTAGACAAAACACACCATTCCCAAAACCTTGCCTCCTTCATTTTATAAAATTGGTGTCATAACAAACAACACTTACCCATAAGGGTACTCAAAGCCTTAAATGACATAAAGTATTTAAAACATTTAGCCTCATACCTGGCCTATAGTAAAGATTATTATTTTTGTTTCCCTTCAGTTTTGGACAGTAACTGGGTAGTGGTCCTGGTAGGAGATCATAATGTAGCGATTCTTTTTTTTTTTAATTTTTTTTAAATTTTATTACTATTATACTTTAAGTTTTAGGGTACATGTGCACCATGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCCGCACCCATTAACTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCCACCCCAATTCTTCATTGCCTATTGAAGAGAGAGCGGAATGCTTTGGTTGCCAGATATGGAAGCAGAATTGCTGACACTTTGTTATCCAAACCAAGAGGCCTGTCTTCAATTTTCATGCAGATAAGCAGGAGGAGGGGGAATCACCCAACATCTGTAGAGAGCTGGACCACAGGAATAGAAACAGAATTGTTTAAGAGACCAATACCAAGCTAAATAGTTAGTGTAACCAGTGATGAAACAAAAATCACCACATCCATTAAGAAAGAACATTTATTTCATGTTTTTTGATCATGGTTCTGGAGAACTATTTAATGTATATTTTACCTGGAAAGACACTGTATAATTCAATTGTATATGAATTTCATATTGTATAATTTATTTGTATGTTTTCAAAGCTATAATACCATTGGGTTTTAAAGTATTTCATAAAGCTGTCTTACCAATCTTAGTTGATGAAGTAAAACGTATTGAAGGTATTATTGACTCTGTTGAAGCAAAGAGAACAAAACATACGGTTTTTACCTAAGAAAGACGTTTTTGATTTTTTTCAGACTTCTCTGGCTCCACTACCCTGCTACGTTTATCTGATTGAGCATCCTTCCCTCAAATATGCGACCACTCGTTCCATAGCCAAGTATCCTGTGGGTAAGTCATAGTTCCCACTGTCATAACTCAATAAAATATGTCCTAGCTGAAACTCAGAGAAATTTATTTTTTATCTTATTTTATTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTCCGATGGTGTGATCTCAGCTCACTGCAACCTCTACCTCTC
Task1_train_23209
Given this variant in gene ASPA, SPATA22 (aspartoacylase| spermatogenesis associated 22) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Spongy degeneration of central nervous system
TATGTTTATATTATCTCAGGCACAGATGTTGTTCATCTTTTTCTTTCTGCTTATAACAGCAAAAAAATGTCAGAAGATTTGCCATATGAAGTGAGAAGGGCTCAAGAAATAAATCATTTATTTGGTCCAAAAGACAGTGAAGATTCCTATGACATTATTTTTGACCTTCACAACACCACCTCTAACATGGGGTGCACTCTTATTCTTGAGGATTCCAGGAATAACTTTTTAATTCAGATGTTTCATTACATTAAGGTAATGTTAATGTTATTAATTTATAAGTTAGCAAAGGACTTGTACTTTTAAGTCAATTATGGATGTGAGACAATCAGAAAACAGTTATGAGGGAAGGTGCAAGAGAAATGGGGTTTATTCCATAGCCAGGCTTGGTGGTTGGGGGGAAAGGGTGCTACCAGAACACAGAGGCAGTGGTGAGAGGAAGGAGAAAAAGAGAGGAAATAAGTAAAATAATAAACACAATTAATAAAGTAATAAAACACTTGTGGATTCTTGTGTCTATAAAATTACACGTTTTATCCAGACAGCCACCAGATGGTGGGGTATTTGTTAAAACCAAGTAAAATTAATATTAAAAGTTTAAATGGTATGGTCAATTTGTTAAAACCAAGTAAAATTAATATTAAAACTTTAAATGGTATGGGATCTCAATTACAAGGTTTTAGGAAACTTAAGAAATAGTCCTTTAACGTAGACTAAAGCCCAGTGATAAAAAGATTGCCTCCCTTTAGTCCTGCCCTCGTCCCCATTTGATTTAGACACCCCAGAATACGTCTAATCTTTCAGTACTTCATAATCATTTTAAGGCTCAGAAATCTCAGAGAAAATTTGCTAGAAAATAGCAACCAACCAGAAACACACATAAGGAACTGTATGCTTATTTCTGTGTACTAGATAGCCTTCCTTCCTGAGAGCAAGGATGATTGAGAGGAAAGAGTGTGGCCTGTGCTCAGATCCTGACTTTCTCCTTCACTAACCTTAGACAAAACACACCATTCCCAAAACCTTGCCTCCTTCATTTTATAAAATTGGTGTCATAACAAACAACACTTACCCATAAGGGTACTCAAAGCCTTAAATGACATAAAGTATTTAAAACATTTAGCCTCATACCTGGCCTATAGTAAAGATTATTATTTTTGTTTCCCTTCAGTTTTGGACAGTAACTGGGTAGTGGTCCTGGTAGGAGATCATAATGTAGCGATTCTTTTTTTTTTTAATTTTTTTTAAATTTTATTACTATTATACTTTAAGTTTTAGGGTACATGTGCACCATGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCCGCACCCATTAACTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCCACCCCAATTCTTCATTGCCTATTGAAGAGAGAGCGGAATGCTTTGGTTGCCAGATATGGAAGCAGAATTGCTGACACTTTGTTATCCAAACCAAGAGGCCTGTCTTCAATTTTCATGCAGATAAGCAGGAGGAGGGGGAATCACCCAACATCTGTAGAGAGCTGGACCACAGGAATAGAAACAGAATTGTTTAAGAGACCAATACCAAGCTAAATAGTTAGTGTAACCAGTGATGAAACAAAAATCACCACATCCATTAAGAAAGAACATTTATTTCATGTTTTTTGATCATGGTTCTGGAGAACTATTTAATGTATATTTTACCTGGAAAGACACTGTATAATTCAATTGTATATGAATTTCATATTGTATAATTTATTTGTATGTTTTCAAAGCTATAATACCATTGGGTTTTAAAGTATTTCATAAAGCTGTCTTACCAATCTTAGTTGATGAAGTAAAACGTATTGAAGGTATTATTGACTCTGTTGAAGCAAAGAGAACAAAACATACGGTTTTTACCTAAGAAAGACGTTTTTGATTTTTTTCAGACTTCTCTGGCTCCACTACCCTGCTACGTTTATCTGATTGAGCATCCTTCCCTCAAATATGCGACCACTCGTTCCATAGCCAAGTATCCTGTGGGTAAGTCATAGTTCCCACTGTCATAACTCAATAAAATATGTCCTAGCTGAAACTCAGAGAAATTTATTTTTTATCTTATTTTATTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTCCGATGGTGTGATCTCAGCTCACTGCAACCTCTACCTCTCTGGTTCAAGTGATTCTCCTGCCTCAAGCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCCTGTAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTAGCCAGGGCTGGCCTCAAACTCCTGACCTCAGGTGATGCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACTGCCTGGCCGAGAAAATTATTTTTAAAAAAACATTTACAGCTACCTTCCATATCCTTAGGCTTATAATTGTCAAGTAACAAGCAATTTAGCTCCAGGCAGGCTCTAATTGTACCGAATTTCCCCAATTTCACTGAGCAGCTTTCTGGTTTTGTTCATGTTCCCTTTGCTGTAATGCTTGGCCCTTCTATTTAGTCTGGCACAATTCTTCTCATTCTCAAGATTCAGTTCACCTGTCACCTCCTATAGAACTTTCCCTGACCCTCCTCTATAGCATTAATTACTCCAGAAATGTGTACATTTGACTAATATTTATAGTGTGCCTACCAGAGACCAACCCTGTGCTAGGTGCGGGGGACAGAACAATGAGCAAGACACACAGTCTCCCCTCAAACAGCTTCGTATGTGATGAGAAAACAGACAGGTAACCAGGTAATCACTGCACAGAGTGATAAATGCTAAATAGGGGCAATTACAGGAGACTGGAAGAGCAGGAAAGACCTAACCCAGTCTTGATGGATCACAGAAGGCCCAAAGAAGTGGGATCCATCTTGAGGTTGTGTATGTGTATGTGTTTGGGGGAGGAAAGGAAAAAAATTGAGAGCAGTCAACAGGATTCTAGACAAGTGTCTTGAAATTATCTGTGATGAAAGGCCATTGCTGATTTCCAATCTGCTATAGAGCAATACTTTTGTAAAATGTAATTTAAAAATGGATTTCTAGAAAAACGATCACATACTTGAATATTTTAGCAATGTCAAATTGCTATAAAAGTTTCTAAACACTTACTTTAATTTCTGTACATATCTCGCCTGGGACCAGCAGCAGACAATTGGTGGACCAGTCCCTGTCCTCAGACAATACTTTGAGGAAAAAGGAATATCATATACAAGGGCCCCAAACCCCTAACTGATGACATGCCATACTTGATACACTGTGTTCTCCATTTATCTTAGCACTCTCTGTTCCCTATCCCCTTCTGCAGGCTGATAATGTATGCTTACTAAATATTAGCTCAAATTACCAGTAAGTACACAATTCTAACTTATAAATGATCATCATTCACAGTAGGGTTTTGTTTTGTTTTTTTTCTGGAAAAGGGTCTCACTCTGTTGCCCAGGCTGAGTGTAGTGGCACGATCACAGTTCACTGCAGCCTTGACCTCCTGGGCTCAGGCAATCCTCCCATCTCAGCCTCCCAAGTAGCTTGAACTACAGGCACGTGCCACCACATTCAGCTAATTTTTTATTTTTTGTAGAGACAGGATCTCAGTATGATCAGGTCTCAAACTCCTGATTCAAGCGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCACACCTGTACCTCATTCACAGTTTTAATCACACCTATCCCACACAGACTTATACAAACTTATCCATTCCTTCCCATGCAGGTTCTATAACTATAACCATATATAAAATACTAGCCAACCAGGAGAATCGCTTGAACCCCGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCGGGGCAACAAAAGTGAAACTCCGTCTCAAAAAAACAAACAAACAAAAATACTAGCCATCTAACACTGGAAATACATACATTCATGAGCTTGTCCGGAGTGATCAGATTTGACTGGATCAGAAAGGCAAGGGATCTGTTTCTCCAAAGTGCTTG
TATGTTTATATTATCTCAGGCACAGATGTTGTTCATCTTTTTCTTTCTGCTTATAACAGCAAAAAAATGTCAGAAGATTTGCCATATGAAGTGAGAAGGGCTCAAGAAATAAATCATTTATTTGGTCCAAAAGACAGTGAAGATTCCTATGACATTATTTTTGACCTTCACAACACCACCTCTAACATGGGGTGCACTCTTATTCTTGAGGATTCCAGGAATAACTTTTTAATTCAGATGTTTCATTACATTAAGGTAATGTTAATGTTATTAATTTATAAGTTAGCAAAGGACTTGTACTTTTAAGTCAATTATGGATGTGAGACAATCAGAAAACAGTTATGAGGGAAGGTGCAAGAGAAATGGGGTTTATTCCATAGCCAGGCTTGGTGGTTGGGGGGAAAGGGTGCTACCAGAACACAGAGGCAGTGGTGAGAGGAAGGAGAAAAAGAGAGGAAATAAGTAAAATAATAAACACAATTAATAAAGTAATAAAACACTTGTGGATTCTTGTGTCTATAAAATTACACGTTTTATCCAGACAGCCACCAGATGGTGGGGTATTTGTTAAAACCAAGTAAAATTAATATTAAAAGTTTAAATGGTATGGTCAATTTGTTAAAACCAAGTAAAATTAATATTAAAACTTTAAATGGTATGGGATCTCAATTACAAGGTTTTAGGAAACTTAAGAAATAGTCCTTTAACGTAGACTAAAGCCCAGTGATAAAAAGATTGCCTCCCTTTAGTCCTGCCCTCGTCCCCATTTGATTTAGACACCCCAGAATACGTCTAATCTTTCAGTACTTCATAATCATTTTAAGGCTCAGAAATCTCAGAGAAAATTTGCTAGAAAATAGCAACCAACCAGAAACACACATAAGGAACTGTATGCTTATTTCTGTGTACTAGATAGCCTTCCTTCCTGAGAGCAAGGATGATTGAGAGGAAAGAGTGTGGCCTGTGCTCAGATCCTGACTTTCTCCTTCACTAACCTTAGACAAAACACACCATTCCCAAAACCTTGCCTCCTTCATTTTATAAAATTGGTGTCATAACAAACAACACTTACCCATAAGGGTACTCAAAGCCTTAAATGACATAAAGTATTTAAAACATTTAGCCTCATACCTGGCCTATAGTAAAGATTATTATTTTTGTTTCCCTTCAGTTTTGGACAGTAACTGGGTAGTGGTCCTGGTAGGAGATCATAATGTAGCGATTCTTTTTTTTTTTAATTTTTTTTAAATTTTATTACTATTATACTTTAAGTTTTAGGGTACATGTGCACCATGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCCGCACCCATTAACTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCCACCCCAATTCTTCATTGCCTATTGAAGAGAGAGCGGAATGCTTTGGTTGCCAGATATGGAAGCAGAATTGCTGACACTTTGTTATCCAAACCAAGAGGCCTGTCTTCAATTTTCATGCAGATAAGCAGGAGGAGGGGGAATCACCCAACATCTGTAGAGAGCTGGACCACAGGAATAGAAACAGAATTGTTTAAGAGACCAATACCAAGCTAAATAGTTAGTGTAACCAGTGATGAAACAAAAATCACCACATCCATTAAGAAAGAACATTTATTTCATGTTTTTTGATCATGGTTCTGGAGAACTATTTAATGTATATTTTACCTGGAAAGACACTGTATAATTCAATTGTATATGAATTTCATATTGTATAATTTATTTGTATGTTTTCAAAGCTATAATACCATTGGGTTTTAAAGTATTTCATAAAGCTGTCTTACCAATCTTAGTTGATGAAGTAAAACGTATTGAAGGTATTATTGACTCTGTTGAAGCAAAGAGAACAAAACATACGGTTTTTACCTAAGAAAGACGTTTTTGATTTTTTTCAGACTTCTCTGGCTCCACTACCCTGCTACGTTTATCTGATTGAGCATCCTTCCCTCAAATATGCGACCACTCGTTCCATAGCCAAGTATCCTGTGAGTAAGTCATAGTTCCCACTGTCATAACTCAATAAAATATGTCCTAGCTGAAACTCAGAGAAATTTATTTTTTATCTTATTTTATTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTCCGATGGTGTGATCTCAGCTCACTGCAACCTCTACCTCTCTGGTTCAAGTGATTCTCCTGCCTCAAGCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCCTGTAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTAGCCAGGGCTGGCCTCAAACTCCTGACCTCAGGTGATGCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACTGCCTGGCCGAGAAAATTATTTTTAAAAAAACATTTACAGCTACCTTCCATATCCTTAGGCTTATAATTGTCAAGTAACAAGCAATTTAGCTCCAGGCAGGCTCTAATTGTACCGAATTTCCCCAATTTCACTGAGCAGCTTTCTGGTTTTGTTCATGTTCCCTTTGCTGTAATGCTTGGCCCTTCTATTTAGTCTGGCACAATTCTTCTCATTCTCAAGATTCAGTTCACCTGTCACCTCCTATAGAACTTTCCCTGACCCTCCTCTATAGCATTAATTACTCCAGAAATGTGTACATTTGACTAATATTTATAGTGTGCCTACCAGAGACCAACCCTGTGCTAGGTGCGGGGGACAGAACAATGAGCAAGACACACAGTCTCCCCTCAAACAGCTTCGTATGTGATGAGAAAACAGACAGGTAACCAGGTAATCACTGCACAGAGTGATAAATGCTAAATAGGGGCAATTACAGGAGACTGGAAGAGCAGGAAAGACCTAACCCAGTCTTGATGGATCACAGAAGGCCCAAAGAAGTGGGATCCATCTTGAGGTTGTGTATGTGTATGTGTTTGGGGGAGGAAAGGAAAAAAATTGAGAGCAGTCAACAGGATTCTAGACAAGTGTCTTGAAATTATCTGTGATGAAAGGCCATTGCTGATTTCCAATCTGCTATAGAGCAATACTTTTGTAAAATGTAATTTAAAAATGGATTTCTAGAAAAACGATCACATACTTGAATATTTTAGCAATGTCAAATTGCTATAAAAGTTTCTAAACACTTACTTTAATTTCTGTACATATCTCGCCTGGGACCAGCAGCAGACAATTGGTGGACCAGTCCCTGTCCTCAGACAATACTTTGAGGAAAAAGGAATATCATATACAAGGGCCCCAAACCCCTAACTGATGACATGCCATACTTGATACACTGTGTTCTCCATTTATCTTAGCACTCTCTGTTCCCTATCCCCTTCTGCAGGCTGATAATGTATGCTTACTAAATATTAGCTCAAATTACCAGTAAGTACACAATTCTAACTTATAAATGATCATCATTCACAGTAGGGTTTTGTTTTGTTTTTTTTCTGGAAAAGGGTCTCACTCTGTTGCCCAGGCTGAGTGTAGTGGCACGATCACAGTTCACTGCAGCCTTGACCTCCTGGGCTCAGGCAATCCTCCCATCTCAGCCTCCCAAGTAGCTTGAACTACAGGCACGTGCCACCACATTCAGCTAATTTTTTATTTTTTGTAGAGACAGGATCTCAGTATGATCAGGTCTCAAACTCCTGATTCAAGCGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCACACCTGTACCTCATTCACAGTTTTAATCACACCTATCCCACACAGACTTATACAAACTTATCCATTCCTTCCCATGCAGGTTCTATAACTATAACCATATATAAAATACTAGCCAACCAGGAGAATCGCTTGAACCCCGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCGGGGCAACAAAAGTGAAACTCCGTCTCAAAAAAACAAACAAACAAAAATACTAGCCATCTAACACTGGAAATACATACATTCATGAGCTTGTCCGGAGTGATCAGATTTGACTGGATCAGAAAGGCAAGGGATCTGTTTCTCCAAAGTGCTTG
Task1_train_23210
Given this context: Chromosome 17, gene ASPA, SPATA22 (aspartoacylase| spermatogenesis associated 22) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Mild Canavan disease
TATGTTTATATTATCTCAGGCACAGATGTTGTTCATCTTTTTCTTTCTGCTTATAACAGCAAAAAAATGTCAGAAGATTTGCCATATGAAGTGAGAAGGGCTCAAGAAATAAATCATTTATTTGGTCCAAAAGACAGTGAAGATTCCTATGACATTATTTTTGACCTTCACAACACCACCTCTAACATGGGGTGCACTCTTATTCTTGAGGATTCCAGGAATAACTTTTTAATTCAGATGTTTCATTACATTAAGGTAATGTTAATGTTATTAATTTATAAGTTAGCAAAGGACTTGTACTTTTAAGTCAATTATGGATGTGAGACAATCAGAAAACAGTTATGAGGGAAGGTGCAAGAGAAATGGGGTTTATTCCATAGCCAGGCTTGGTGGTTGGGGGGAAAGGGTGCTACCAGAACACAGAGGCAGTGGTGAGAGGAAGGAGAAAAAGAGAGGAAATAAGTAAAATAATAAACACAATTAATAAAGTAATAAAACACTTGTGGATTCTTGTGTCTATAAAATTACACGTTTTATCCAGACAGCCACCAGATGGTGGGGTATTTGTTAAAACCAAGTAAAATTAATATTAAAAGTTTAAATGGTATGGTCAATTTGTTAAAACCAAGTAAAATTAATATTAAAACTTTAAATGGTATGGGATCTCAATTACAAGGTTTTAGGAAACTTAAGAAATAGTCCTTTAACGTAGACTAAAGCCCAGTGATAAAAAGATTGCCTCCCTTTAGTCCTGCCCTCGTCCCCATTTGATTTAGACACCCCAGAATACGTCTAATCTTTCAGTACTTCATAATCATTTTAAGGCTCAGAAATCTCAGAGAAAATTTGCTAGAAAATAGCAACCAACCAGAAACACACATAAGGAACTGTATGCTTATTTCTGTGTACTAGATAGCCTTCCTTCCTGAGAGCAAGGATGATTGAGAGGAAAGAGTGTGGCCTGTGCTCAGATCCTGACTTTCTCCTTCACTAACCTTAGACAAAACACACCATTCCCAAAACCTTGCCTCCTTCATTTTATAAAATTGGTGTCATAACAAACAACACTTACCCATAAGGGTACTCAAAGCCTTAAATGACATAAAGTATTTAAAACATTTAGCCTCATACCTGGCCTATAGTAAAGATTATTATTTTTGTTTCCCTTCAGTTTTGGACAGTAACTGGGTAGTGGTCCTGGTAGGAGATCATAATGTAGCGATTCTTTTTTTTTTTAATTTTTTTTAAATTTTATTACTATTATACTTTAAGTTTTAGGGTACATGTGCACCATGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCCGCACCCATTAACTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCCACCCCAATTCTTCATTGCCTATTGAAGAGAGAGCGGAATGCTTTGGTTGCCAGATATGGAAGCAGAATTGCTGACACTTTGTTATCCAAACCAAGAGGCCTGTCTTCAATTTTCATGCAGATAAGCAGGAGGAGGGGGAATCACCCAACATCTGTAGAGAGCTGGACCACAGGAATAGAAACAGAATTGTTTAAGAGACCAATACCAAGCTAAATAGTTAGTGTAACCAGTGATGAAACAAAAATCACCACATCCATTAAGAAAGAACATTTATTTCATGTTTTTTGATCATGGTTCTGGAGAACTATTTAATGTATATTTTACCTGGAAAGACACTGTATAATTCAATTGTATATGAATTTCATATTGTATAATTTATTTGTATGTTTTCAAAGCTATAATACCATTGGGTTTTAAAGTATTTCATAAAGCTGTCTTACCAATCTTAGTTGATGAAGTAAAACGTATTGAAGGTATTATTGACTCTGTTGAAGCAAAGAGAACAAAACATACGGTTTTTACCTAAGAAAGACGTTTTTGATTTTTTTCAGACTTCTCTGGCTCCACTACCCTGCTACGTTTATCTGATTGAGCATCCTTCCCTCAAATATGCGACCACTCGTTCCATAGCCAAGTATCCTGTGGGTAAGTCATAGTTCCCACTGTCATAACTCAATAAAATATGTCCTAGCTGAAACTCAGAGAAATTTATTTTTTATCTTATTTTATTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTCCGATGGTGTGATCTCAGCTCACTGCAACCTCTACCTCTCTGGTTCAAGTGATTCTCCTGCCTCAAGCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCCTGTAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTAGCCAGGGCTGGCCTCAAACTCCTGACCTCAGGTGATGCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACTGCCTGGCCGAGAAAATTATTTTTAAAAAAACATTTACAGCTACCTTCCATATCCTTAGGCTTATAATTGTCAAGTAACAAGCAATTTAGCTCCAGGCAGGCTCTAATTGTACCGAATTTCCCCAATTTCACTGAGCAGCTTTCTGGTTTTGTTCATGTTCCCTTTGCTGTAATGCTTGGCCCTTCTATTTAGTCTGGCACAATTCTTCTCATTCTCAAGATTCAGTTCACCTGTCACCTCCTATAGAACTTTCCCTGACCCTCCTCTATAGCATTAATTACTCCAGAAATGTGTACATTTGACTAATATTTATAGTGTGCCTACCAGAGACCAACCCTGTGCTAGGTGCGGGGGACAGAACAATGAGCAAGACACACAGTCTCCCCTCAAACAGCTTCGTATGTGATGAGAAAACAGACAGGTAACCAGGTAATCACTGCACAGAGTGATAAATGCTAAATAGGGGCAATTACAGGAGACTGGAAGAGCAGGAAAGACCTAACCCAGTCTTGATGGATCACAGAAGGCCCAAAGAAGTGGGATCCATCTTGAGGTTGTGTATGTGTATGTGTTTGGGGGAGGAAAGGAAAAAAATTGAGAGCAGTCAACAGGATTCTAGACAAGTGTCTTGAAATTATCTGTGATGAAAGGCCATTGCTGATTTCCAATCTGCTATAGAGCAATACTTTTGTAAAATGTAATTTAAAAATGGATTTCTAGAAAAACGATCACATACTTGAATATTTTAGCAATGTCAAATTGCTATAAAAGTTTCTAAACACTTACTTTAATTTCTGTACATATCTCGCCTGGGACCAGCAGCAGACAATTGGTGGACCAGTCCCTGTCCTCAGACAATACTTTGAGGAAAAAGGAATATCATATACAAGGGCCCCAAACCCCTAACTGATGACATGCCATACTTGATACACTGTGTTCTCCATTTATCTTAGCACTCTCTGTTCCCTATCCCCTTCTGCAGGCTGATAATGTATGCTTACTAAATATTAGCTCAAATTACCAGTAAGTACACAATTCTAACTTATAAATGATCATCATTCACAGTAGGGTTTTGTTTTGTTTTTTTTCTGGAAAAGGGTCTCACTCTGTTGCCCAGGCTGAGTGTAGTGGCACGATCACAGTTCACTGCAGCCTTGACCTCCTGGGCTCAGGCAATCCTCCCATCTCAGCCTCCCAAGTAGCTTGAACTACAGGCACGTGCCACCACATTCAGCTAATTTTTTATTTTTTGTAGAGACAGGATCTCAGTATGATCAGGTCTCAAACTCCTGATTCAAGCGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCACACCTGTACCTCATTCACAGTTTTAATCACACCTATCCCACACAGACTTATACAAACTTATCCATTCCTTCCCATGCAGGTTCTATAACTATAACCATATATAAAATACTAGCCAACCAGGAGAATCGCTTGAACCCCGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCGGGGCAACAAAAGTGAAACTCCGTCTCAAAAAAACAAACAAACAAAAATACTAGCCATCTAACACTGGAAATACATACATTCATGAGCTTGTCCGGAGTGATCAGATTTGACTGGATCAGAAAGGCAAGGGATCTGTTTCTCCAAAGTGCTTG
TATGTTTATATTATCTCAGGCACAGATGTTGTTCATCTTTTTCTTTCTGCTTATAACAGCAAAAAAATGTCAGAAGATTTGCCATATGAAGTGAGAAGGGCTCAAGAAATAAATCATTTATTTGGTCCAAAAGACAGTGAAGATTCCTATGACATTATTTTTGACCTTCACAACACCACCTCTAACATGGGGTGCACTCTTATTCTTGAGGATTCCAGGAATAACTTTTTAATTCAGATGTTTCATTACATTAAGGTAATGTTAATGTTATTAATTTATAAGTTAGCAAAGGACTTGTACTTTTAAGTCAATTATGGATGTGAGACAATCAGAAAACAGTTATGAGGGAAGGTGCAAGAGAAATGGGGTTTATTCCATAGCCAGGCTTGGTGGTTGGGGGGAAAGGGTGCTACCAGAACACAGAGGCAGTGGTGAGAGGAAGGAGAAAAAGAGAGGAAATAAGTAAAATAATAAACACAATTAATAAAGTAATAAAACACTTGTGGATTCTTGTGTCTATAAAATTACACGTTTTATCCAGACAGCCACCAGATGGTGGGGTATTTGTTAAAACCAAGTAAAATTAATATTAAAAGTTTAAATGGTATGGTCAATTTGTTAAAACCAAGTAAAATTAATATTAAAACTTTAAATGGTATGGGATCTCAATTACAAGGTTTTAGGAAACTTAAGAAATAGTCCTTTAACGTAGACTAAAGCCCAGTGATAAAAAGATTGCCTCCCTTTAGTCCTGCCCTCGTCCCCATTTGATTTAGACACCCCAGAATACGTCTAATCTTTCAGTACTTCATAATCATTTTAAGGCTCAGAAATCTCAGAGAAAATTTGCTAGAAAATAGCAACCAACCAGAAACACACATAAGGAACTGTATGCTTATTTCTGTGTACTAGATAGCCTTCCTTCCTGAGAGCAAGGATGATTGAGAGGAAAGAGTGTGGCCTGTGCTCAGATCCTGACTTTCTCCTTCACTAACCTTAGACAAAACACACCATTCCCAAAACCTTGCCTCCTTCATTTTATAAAATTGGTGTCATAACAAACAACACTTACCCATAAGGGTACTCAAAGCCTTAAATGACATAAAGTATTTAAAACATTTAGCCTCATACCTGGCCTATAGTAAAGATTATTATTTTTGTTTCCCTTCAGTTTTGGACAGTAACTGGGTAGTGGTCCTGGTAGGAGATCATAATGTAGCGATTCTTTTTTTTTTTAATTTTTTTTAAATTTTATTACTATTATACTTTAAGTTTTAGGGTACATGTGCACCATGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCCGCACCCATTAACTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCCACCCCAATTCTTCATTGCCTATTGAAGAGAGAGCGGAATGCTTTGGTTGCCAGATATGGAAGCAGAATTGCTGACACTTTGTTATCCAAACCAAGAGGCCTGTCTTCAATTTTCATGCAGATAAGCAGGAGGAGGGGGAATCACCCAACATCTGTAGAGAGCTGGACCACAGGAATAGAAACAGAATTGTTTAAGAGACCAATACCAAGCTAAATAGTTAGTGTAACCAGTGATGAAACAAAAATCACCACATCCATTAAGAAAGAACATTTATTTCATGTTTTTTGATCATGGTTCTGGAGAACTATTTAATGTATATTTTACCTGGAAAGACACTGTATAATTCAATTGTATATGAATTTCATATTGTATAATTTATTTGTATGTTTTCAAAGCTATAATACCATTGGGTTTTAAAGTATTTCATAAAGCTGTCTTACCAATCTTAGTTGATGAAGTAAAACGTATTGAAGGTATTATTGACTCTGTTGAAGCAAAGAGAACAAAACATACGGTTTTTACCTAAGAAAGACGTTTTTGATTTTTTTCAGACTTCTCTGGCTCCACTACCCTGCTACGTTTATCTGATTGAGCATCCTTCCCTCAAATATGCGACCACTCGTTCCATAGCCAAGTATCCTGTGAGTAAGTCATAGTTCCCACTGTCATAACTCAATAAAATATGTCCTAGCTGAAACTCAGAGAAATTTATTTTTTATCTTATTTTATTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTCCGATGGTGTGATCTCAGCTCACTGCAACCTCTACCTCTCTGGTTCAAGTGATTCTCCTGCCTCAAGCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCCTGTAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTAGCCAGGGCTGGCCTCAAACTCCTGACCTCAGGTGATGCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACTGCCTGGCCGAGAAAATTATTTTTAAAAAAACATTTACAGCTACCTTCCATATCCTTAGGCTTATAATTGTCAAGTAACAAGCAATTTAGCTCCAGGCAGGCTCTAATTGTACCGAATTTCCCCAATTTCACTGAGCAGCTTTCTGGTTTTGTTCATGTTCCCTTTGCTGTAATGCTTGGCCCTTCTATTTAGTCTGGCACAATTCTTCTCATTCTCAAGATTCAGTTCACCTGTCACCTCCTATAGAACTTTCCCTGACCCTCCTCTATAGCATTAATTACTCCAGAAATGTGTACATTTGACTAATATTTATAGTGTGCCTACCAGAGACCAACCCTGTGCTAGGTGCGGGGGACAGAACAATGAGCAAGACACACAGTCTCCCCTCAAACAGCTTCGTATGTGATGAGAAAACAGACAGGTAACCAGGTAATCACTGCACAGAGTGATAAATGCTAAATAGGGGCAATTACAGGAGACTGGAAGAGCAGGAAAGACCTAACCCAGTCTTGATGGATCACAGAAGGCCCAAAGAAGTGGGATCCATCTTGAGGTTGTGTATGTGTATGTGTTTGGGGGAGGAAAGGAAAAAAATTGAGAGCAGTCAACAGGATTCTAGACAAGTGTCTTGAAATTATCTGTGATGAAAGGCCATTGCTGATTTCCAATCTGCTATAGAGCAATACTTTTGTAAAATGTAATTTAAAAATGGATTTCTAGAAAAACGATCACATACTTGAATATTTTAGCAATGTCAAATTGCTATAAAAGTTTCTAAACACTTACTTTAATTTCTGTACATATCTCGCCTGGGACCAGCAGCAGACAATTGGTGGACCAGTCCCTGTCCTCAGACAATACTTTGAGGAAAAAGGAATATCATATACAAGGGCCCCAAACCCCTAACTGATGACATGCCATACTTGATACACTGTGTTCTCCATTTATCTTAGCACTCTCTGTTCCCTATCCCCTTCTGCAGGCTGATAATGTATGCTTACTAAATATTAGCTCAAATTACCAGTAAGTACACAATTCTAACTTATAAATGATCATCATTCACAGTAGGGTTTTGTTTTGTTTTTTTTCTGGAAAAGGGTCTCACTCTGTTGCCCAGGCTGAGTGTAGTGGCACGATCACAGTTCACTGCAGCCTTGACCTCCTGGGCTCAGGCAATCCTCCCATCTCAGCCTCCCAAGTAGCTTGAACTACAGGCACGTGCCACCACATTCAGCTAATTTTTTATTTTTTGTAGAGACAGGATCTCAGTATGATCAGGTCTCAAACTCCTGATTCAAGCGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCACACCTGTACCTCATTCACAGTTTTAATCACACCTATCCCACACAGACTTATACAAACTTATCCATTCCTTCCCATGCAGGTTCTATAACTATAACCATATATAAAATACTAGCCAACCAGGAGAATCGCTTGAACCCCGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCGGGGCAACAAAAGTGAAACTCCGTCTCAAAAAAACAAACAAACAAAAATACTAGCCATCTAACACTGGAAATACATACATTCATGAGCTTGTCCGGAGTGATCAGATTTGACTGGATCAGAAAGGCAAGGGATCTGTTTCTCCAAAGTGCTTG
Task1_train_23211
This alteration occurs within gene ASPA, SPATA22 (aspartoacylase| spermatogenesis associated 22) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
Pathogenic; Spongy degeneration of central nervous system
GCAAAATTTGTATGCAGCAATATTCTTAGTGTATTATAAAATGTTGACTCAGAAAGATTGTCTCTCTAATGTTAAACATGCTTTTTTCCCAGTGAGTGCATGATATAAAATATTCCAAATAAAACAGCAAAGTTGGAAGGAGAACATATAACATTTCTAATTATTTACAATGAGCTTAATACTCCCTCATATTGAAATATTTTAAAGATTTGGCTCAACTTGTAAGGGCCAAACATATCAGCAATGTTTGTTCTGGCTAAGAGTAGCATTGCCTACAAATATCATAGCCTAAGATTGATATTTGAGAGTTTGGAAATCTTAAGCTTTTATTTGGTGTCACAGAGAAACAGGATCTGTATCTCTTATTGCTAAGCCTTTGATTTGTTTCAGCTAATTGCCTGTATTTGGATATTTAGCTTACTCTAATTCCTTACTTCAAGTATTGATACTTTTGTGCATAATAAAGATTCCTTCATTCTTAAATCATTGACTAGGGGATTATTATGATTGACTTAAACTATTCAACATTTACTCTTGAAATGGAGAGAAATTTACCTACCTTGAAGATTGGAAGCCCAACTAATATCAGGATTCTATTAGAAACAGGAGGAAAGTGAAATGGATTTGGGGTAGGCAAACGACAATGTATTCTATAGTATTCCTACAGACATATCTACAAACACACTTTTTCACATATTTGTGTAAGTCATTTATGCACAGATGCATACCTTAGCCACATTTATGACACCATATACTTAAATATATGTTCATACATATATGCAAGAAACCTAAGCACAACAAATAAAAAATGATGCAAGAGAATAAGATAAGATTTTGTGTATTGGGAAATAACAGAAGCGGGTGAAAACAAGATGAGTGTAAAAGAATGCAGTATGTTAATGGGATGGAAGAGAATGAGGGTAGTGCAGTTGGGGTAAATGGTTTGCCAAATAGAGAAGGTGATGACTGGGGAGATGACTTTGTGGGAGACTTGAACAGGAAGGAAGGGTCTACAAAAGTAGTTTAAAGAAAGAGTATTTTGTAGATGTAAGGATGGATGCTTAACAGCCACACAAAGTAGACCTAATAGTACAGGCATCATTTCATATGAGTTAGAAGAAATGAACACAAGTTTTTTCCTGCATAAAATTAAAACCAGGCCAAGCACGACGGCTCACGCCTGTAATCCCAGCATTTGGGGAAGCCGAGAAGGGCAGATTACCTGCGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGCCTCTACTAAAAATATAAAAATAAGCCAGGAATGGTGGCCCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCAGAAATCACACCACTGTACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCGAAAAAATAAATAAATAAATAAAACCATTGCACTATTGTGTTAGGATGGATTGCTAGGTTAAGGGCAAAATCATTGCTCAAGGGTCACATAGATTGTCATATTGACTGAAATCCATGATTCATCTAGTCTGGATTTCTGTGAAATCTATAAAAATAGATGTCCTTCCTCCCGTCACAGCTAAATGTTAGATCTTAACAGTTTCTCTTCAGGTCCACCTATTATTTTGTCAGCATAAACTTGTTCACCTTTTTTACTATGTTATGACTTTTAAATATTTTAGCAATACTGAAGGAAATTTAAAGAAAAAAGACCACAAGAGTTTCCTATTTCTAACACCACTGATTTTTTCCATGTTCTTTCCCAGTCTTTATTCACTATGCATCTAACTTAAACATGTAAATGTTCTGCTTCACGTTTTGCCAAACATTATGTCTCAAATATTTTCCATGATGCTACATGGTTTACCTTTTTAATAATTTTAACAACATAATTCTAAATCTTGATACATTAAAATGCTTAGTTTTATAATATATTTTCATACTTATATAAATGTGACTATCTCTCCTTCTGTACCTAGGTATAGAAGTTGGTCCTCAGCCTCAAGGGGTTCTGAGAGCTGATATCTTGGATCAAATGAGAAAAATGATTAAACATGCTCTTGATTTTATACATCATTTCAATGAAGGTAAGTAATAATGAAGGTAACGTTATCAAACTTAACCACCAAACATTTAAATAACAATTGGAACCTGGGTCAGATTTGCCATGCTAAAGATATGAAGTGCTTTTTAAAATTTTTATTCACTTCAGCTATTCCCCAATGGCCAGGATAGACACATTCAAGAAAAGCAGCTGCCAAATAAAGACTCCACATTAAATCCTTATTTCCTGCTAATCTCCATTTTAAAAAGAAAAGACGAGAAAATACAAATGCCCAGTAAACATATGAAAAGATGTTCAACATCACTAGTAATTAGAGAAATGCAAATTAAAATAAGAAGTCACTTCCCCCATTAAGTTGGGAAAATATTAAAGTCTGCAAATATCAAGCGTTGGTAAATGTGTAGGAAAAGGGGAAACTCTCATTACCTGCTGGTGAACATATAAGTGAACATATAAGTTGGTAAAGACATTTTAGAGGATAATCTTACAGCATCCACTTCTTAAAACACACCAATCTTATTACCCAGCGATTCCACATCTCAAAGAAACACAAGCACAAGCAACATGTTGTTTACAAAGATTGTTATCGTGCATCATTTATAACAGCAAAAGAATGGAAACAGCATGAATGTCCACCTGTTGGTGGAGAGTTAAATAAACTAACATGGAAGAATCTTCAAAACACAATGGTAATTAGCAGAAAGCAAGTTGCAGACCAAGACATTCAGTACACCAATTGGCTTTAAAATAACAATAATAATCATCACCTTCTAGGATACATATATATGTTAACACATCACAGGGAAAGTCCTAGAAGAAAACACACCAAACTGATAACAATAGTTACCGGGGACGGGAGGCAAAACCCAGGCTAATTTTGTCTTAATTATATTCAATAAGAATAATGTATTTATGTATTATTTCTGTAATTAAAAATTAATTAAACGGGGACTGGTGGACAAGGTGGGTATATGCAGCTCTATGCACTATCTGCTCATTTATTTGGTAAATCTAAAACTGCACTAAAAAGTCTATTAGTTATAAAAAAAGTTTACTTTAAAATGGAAAATAGTTGCTTAAAATCAAAGAGACATTCTATGTAAACAATTATTCCAACAGACTGAGTTGAAATTGTTGTTGAGGAATGGGCAATTATAATAACAGAGGGGGTGTGTACTTCGGTGTCTGTGGGGAGTGAATTCCTCAACCTCAGATCGTGCGCACCCCACTGCAATCACAGACATTCGTTTTGTGCTTGGGAATCCTTTGACTCCAAAATCATGAAAACTGAAAATTTGCTTTTTACCATCTTTGTCTGAGGGCAGGTTCTATACTGTCTAATGGAACTGGTTTTGAGAAGATCACAACATACTTACAATAAACCCTCTGAATAGGAAGTGTGGGACTACAATATATTAAGAAGTGATACATTCAGATAGAAGGCCACAAATCTGGGTGGAAAACGTGGTTGGTTTTCAGATCATAGTCCATAGAATCCTATCACAACGGTGGAGAAAAGCAGTTCCTGGAACACCCCACCCCTTAACCCCTTATCTCTGCTTCAACCAGAGCTCTTCTGTGTAACATTTCATTTAAGCAAAGGATTCGGCAAATCAAAAATTGTCAACCACGATTAATTTAGACTATCCAGCTTGGTGGATTTTCAACTGAGCACTCCTATCCACAGAATGCTGACAAATGAATCATAGCCGCCATGTGAAAAGTCTGAAGAAGTGTGTAGAAGGGCTTCATTCTTGACTCTGTCCTACTCAGAACTGTAGTTAGTGACTTGGATAAAGACATATGCGACATGCTTAGCTAAGTGACAGGTCTCAGGAAGATAGCAGGAAAACATCCTGGTTGAGAAGGCAGATCCAAGAAGTCCTGACAATCTTTAACAATTGTTTAAACCAAATGTTTAAGGTTAACAACATCAGGGACCAAAGTTTTGTTCTTATGTTTAAAAAAAATCCCAGAATAAGGGAGGTAATG
GCAAAATTTGTATGCAGCAATATTCTTAGTGTATTATAAAATGTTGACTCAGAAAGATTGTCTCTCTAATGTTAAACATGCTTTTTTCCCAGTGAGTGCATGATATAAAATATTCCAAATAAAACAGCAAAGTTGGAAGGAGAACATATAACATTTCTAATTATTTACAATGAGCTTAATACTCCCTCATATTGAAATATTTTAAAGATTTGGCTCAACTTGTAAGGGCCAAACATATCAGCAATGTTTGTTCTGGCTAAGAGTAGCATTGCCTACAAATATCATAGCCTAAGATTGATATTTGAGAGTTTGGAAATCTTAAGCTTTTATTTGGTGTCACAGAGAAACAGGATCTGTATCTCTTATTGCTAAGCCTTTGATTTGTTTCAGCTAATTGCCTGTATTTGGATATTTAGCTTACTCTAATTCCTTACTTCAAGTATTGATACTTTTGTGCATAATAAAGATTCCTTCATTCTTAAATCATTGACTAGGGGATTATTATGATTGACTTAAACTATTCAACATTTACTCTTGAAATGGAGAGAAATTTACCTACCTTGAAGATTGGAAGCCCAACTAATATCAGGATTCTATTAGAAACAGGAGGAAAGTGAAATGGATTTGGGGTAGGCAAACGACAATGTATTCTATAGTATTCCTACAGACATATCTACAAACACACTTTTTCACATATTTGTGTAAGTCATTTATGCACAGATGCATACCTTAGCCACATTTATGACACCATATACTTAAATATATGTTCATACATATATGCAAGAAACCTAAGCACAACAAATAAAAAATGATGCAAGAGAATAAGATAAGATTTTGTGTATTGGGAAATAACAGAAGCGGGTGAAAACAAGATGAGTGTAAAAGAATGCAGTATGTTAATGGGATGGAAGAGAATGAGGGTAGTGCAGTTGGGGTAAATGGTTTGCCAAATAGAGAAGGTGATGACTGGGGAGATGACTTTGTGGGAGACTTGAACAGGAAGGAAGGGTCTACAAAAGTAGTTTAAAGAAAGAGTATTTTGTAGATGTAAGGATGGATGCTTAACAGCCACACAAAGTAGACCTAATAGTACAGGCATCATTTCATATGAGTTAGAAGAAATGAACACAAGTTTTTTCCTGCATAAAATTAAAACCAGGCCAAGCACGACGGCTCACGCCTGTAATCCCAGCATTTGGGGAAGCCGAGAAGGGCAGATTACCTGCGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGCCTCTACTAAAAATATAAAAATAAGCCAGGAATGGTGGCCCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCAGAAATCACACCACTGTACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCGAAAAAATAAATAAATAAATAAAACCATTGCACTATTGTGTTAGGATGGATTGCTAGGTTAAGGGCAAAATCATTGCTCAAGGGTCACATAGATTGTCATATTGACTGAAATCCATGATTCATCTAGTCTGGATTTCTGTGAAATCTATAAAAATAGATGTCCTTCCTCCCGTCACAGCTAAATGTTAGATCTTAACAGTTTCTCTTCAGGTCCACCTATTATTTTGTCAGCATAAACTTGTTCACCTTTTTTACTATGTTATGACTTTTAAATATTTTAGCAATACTGAAGGAAATTTAAAGAAAAAAGACCACAAGAGTTTCCTATTTCTAACACCACTGATTTTTTCCATGTTCTTTCCCAGTCTTTATTCACTATGCATCTAACTTAAACATGTAAATGTTCTGCTTCACGTTTTGCCAAACATTATGTCTCAAATATTTTCCATGATGCTACATGGTTTACCTTTTTAATAATTTTAACAACATAATTCTAAATCTTGATACATTAAAATGCTTAGTTTTATAATATATTTTCATACTTATATAAATGTGACTATCTCTCCTTCTGTACCTAGGTATAGAAGTTGGTCCTCAGCCTCAAGGGGATCTGAGAGCTGATATCTTGGATCAAATGAGAAAAATGATTAAACATGCTCTTGATTTTATACATCATTTCAATGAAGGTAAGTAATAATGAAGGTAACGTTATCAAACTTAACCACCAAACATTTAAATAACAATTGGAACCTGGGTCAGATTTGCCATGCTAAAGATATGAAGTGCTTTTTAAAATTTTTATTCACTTCAGCTATTCCCCAATGGCCAGGATAGACACATTCAAGAAAAGCAGCTGCCAAATAAAGACTCCACATTAAATCCTTATTTCCTGCTAATCTCCATTTTAAAAAGAAAAGACGAGAAAATACAAATGCCCAGTAAACATATGAAAAGATGTTCAACATCACTAGTAATTAGAGAAATGCAAATTAAAATAAGAAGTCACTTCCCCCATTAAGTTGGGAAAATATTAAAGTCTGCAAATATCAAGCGTTGGTAAATGTGTAGGAAAAGGGGAAACTCTCATTACCTGCTGGTGAACATATAAGTGAACATATAAGTTGGTAAAGACATTTTAGAGGATAATCTTACAGCATCCACTTCTTAAAACACACCAATCTTATTACCCAGCGATTCCACATCTCAAAGAAACACAAGCACAAGCAACATGTTGTTTACAAAGATTGTTATCGTGCATCATTTATAACAGCAAAAGAATGGAAACAGCATGAATGTCCACCTGTTGGTGGAGAGTTAAATAAACTAACATGGAAGAATCTTCAAAACACAATGGTAATTAGCAGAAAGCAAGTTGCAGACCAAGACATTCAGTACACCAATTGGCTTTAAAATAACAATAATAATCATCACCTTCTAGGATACATATATATGTTAACACATCACAGGGAAAGTCCTAGAAGAAAACACACCAAACTGATAACAATAGTTACCGGGGACGGGAGGCAAAACCCAGGCTAATTTTGTCTTAATTATATTCAATAAGAATAATGTATTTATGTATTATTTCTGTAATTAAAAATTAATTAAACGGGGACTGGTGGACAAGGTGGGTATATGCAGCTCTATGCACTATCTGCTCATTTATTTGGTAAATCTAAAACTGCACTAAAAAGTCTATTAGTTATAAAAAAAGTTTACTTTAAAATGGAAAATAGTTGCTTAAAATCAAAGAGACATTCTATGTAAACAATTATTCCAACAGACTGAGTTGAAATTGTTGTTGAGGAATGGGCAATTATAATAACAGAGGGGGTGTGTACTTCGGTGTCTGTGGGGAGTGAATTCCTCAACCTCAGATCGTGCGCACCCCACTGCAATCACAGACATTCGTTTTGTGCTTGGGAATCCTTTGACTCCAAAATCATGAAAACTGAAAATTTGCTTTTTACCATCTTTGTCTGAGGGCAGGTTCTATACTGTCTAATGGAACTGGTTTTGAGAAGATCACAACATACTTACAATAAACCCTCTGAATAGGAAGTGTGGGACTACAATATATTAAGAAGTGATACATTCAGATAGAAGGCCACAAATCTGGGTGGAAAACGTGGTTGGTTTTCAGATCATAGTCCATAGAATCCTATCACAACGGTGGAGAAAAGCAGTTCCTGGAACACCCCACCCCTTAACCCCTTATCTCTGCTTCAACCAGAGCTCTTCTGTGTAACATTTCATTTAAGCAAAGGATTCGGCAAATCAAAAATTGTCAACCACGATTAATTTAGACTATCCAGCTTGGTGGATTTTCAACTGAGCACTCCTATCCACAGAATGCTGACAAATGAATCATAGCCGCCATGTGAAAAGTCTGAAGAAGTGTGTAGAAGGGCTTCATTCTTGACTCTGTCCTACTCAGAACTGTAGTTAGTGACTTGGATAAAGACATATGCGACATGCTTAGCTAAGTGACAGGTCTCAGGAAGATAGCAGGAAAACATCCTGGTTGAGAAGGCAGATCCAAGAAGTCCTGACAATCTTTAACAATTGTTTAAACCAAATGTTTAAGGTTAACAACATCAGGGACCAAAGTTTTGTTCTTATGTTTAAAAAAAATCCCAGAATAAGGGAGGTAATG
Task1_train_23212
Chromosome 17 houses a mutation in gene ASPA, SPATA22 (aspartoacylase| spermatogenesis associated 22). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Spongy degeneration of central nervous system
AAGATTGTCTCTCTAATGTTAAACATGCTTTTTTCCCAGTGAGTGCATGATATAAAATATTCCAAATAAAACAGCAAAGTTGGAAGGAGAACATATAACATTTCTAATTATTTACAATGAGCTTAATACTCCCTCATATTGAAATATTTTAAAGATTTGGCTCAACTTGTAAGGGCCAAACATATCAGCAATGTTTGTTCTGGCTAAGAGTAGCATTGCCTACAAATATCATAGCCTAAGATTGATATTTGAGAGTTTGGAAATCTTAAGCTTTTATTTGGTGTCACAGAGAAACAGGATCTGTATCTCTTATTGCTAAGCCTTTGATTTGTTTCAGCTAATTGCCTGTATTTGGATATTTAGCTTACTCTAATTCCTTACTTCAAGTATTGATACTTTTGTGCATAATAAAGATTCCTTCATTCTTAAATCATTGACTAGGGGATTATTATGATTGACTTAAACTATTCAACATTTACTCTTGAAATGGAGAGAAATTTACCTACCTTGAAGATTGGAAGCCCAACTAATATCAGGATTCTATTAGAAACAGGAGGAAAGTGAAATGGATTTGGGGTAGGCAAACGACAATGTATTCTATAGTATTCCTACAGACATATCTACAAACACACTTTTTCACATATTTGTGTAAGTCATTTATGCACAGATGCATACCTTAGCCACATTTATGACACCATATACTTAAATATATGTTCATACATATATGCAAGAAACCTAAGCACAACAAATAAAAAATGATGCAAGAGAATAAGATAAGATTTTGTGTATTGGGAAATAACAGAAGCGGGTGAAAACAAGATGAGTGTAAAAGAATGCAGTATGTTAATGGGATGGAAGAGAATGAGGGTAGTGCAGTTGGGGTAAATGGTTTGCCAAATAGAGAAGGTGATGACTGGGGAGATGACTTTGTGGGAGACTTGAACAGGAAGGAAGGGTCTACAAAAGTAGTTTAAAGAAAGAGTATTTTGTAGATGTAAGGATGGATGCTTAACAGCCACACAAAGTAGACCTAATAGTACAGGCATCATTTCATATGAGTTAGAAGAAATGAACACAAGTTTTTTCCTGCATAAAATTAAAACCAGGCCAAGCACGACGGCTCACGCCTGTAATCCCAGCATTTGGGGAAGCCGAGAAGGGCAGATTACCTGCGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGCCTCTACTAAAAATATAAAAATAAGCCAGGAATGGTGGCCCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCAGAAATCACACCACTGTACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCGAAAAAATAAATAAATAAATAAAACCATTGCACTATTGTGTTAGGATGGATTGCTAGGTTAAGGGCAAAATCATTGCTCAAGGGTCACATAGATTGTCATATTGACTGAAATCCATGATTCATCTAGTCTGGATTTCTGTGAAATCTATAAAAATAGATGTCCTTCCTCCCGTCACAGCTAAATGTTAGATCTTAACAGTTTCTCTTCAGGTCCACCTATTATTTTGTCAGCATAAACTTGTTCACCTTTTTTACTATGTTATGACTTTTAAATATTTTAGCAATACTGAAGGAAATTTAAAGAAAAAAGACCACAAGAGTTTCCTATTTCTAACACCACTGATTTTTTCCATGTTCTTTCCCAGTCTTTATTCACTATGCATCTAACTTAAACATGTAAATGTTCTGCTTCACGTTTTGCCAAACATTATGTCTCAAATATTTTCCATGATGCTACATGGTTTACCTTTTTAATAATTTTAACAACATAATTCTAAATCTTGATACATTAAAATGCTTAGTTTTATAATATATTTTCATACTTATATAAATGTGACTATCTCTCCTTCTGTACCTAGGTATAGAAGTTGGTCCTCAGCCTCAAGGGGTTCTGAGAGCTGATATCTTGGATCAAATGAGAAAAATGATTAAACATGCTCTTGATTTTATACATCATTTCAATGAAGGTAAGTAATAATGAAGGTAACGTTATCAAACTTAACCACCAAACATTTAAATAACAATTGGAACCTGGGTCAGATTTGCCATGCTAAAGATATGAAGTGCTTTTTAAAATTTTTATTCACTTCAGCTATTCCCCAATGGCCAGGATAGACACATTCAAGAAAAGCAGCTGCCAAATAAAGACTCCACATTAAATCCTTATTTCCTGCTAATCTCCATTTTAAAAAGAAAAGACGAGAAAATACAAATGCCCAGTAAACATATGAAAAGATGTTCAACATCACTAGTAATTAGAGAAATGCAAATTAAAATAAGAAGTCACTTCCCCCATTAAGTTGGGAAAATATTAAAGTCTGCAAATATCAAGCGTTGGTAAATGTGTAGGAAAAGGGGAAACTCTCATTACCTGCTGGTGAACATATAAGTGAACATATAAGTTGGTAAAGACATTTTAGAGGATAATCTTACAGCATCCACTTCTTAAAACACACCAATCTTATTACCCAGCGATTCCACATCTCAAAGAAACACAAGCACAAGCAACATGTTGTTTACAAAGATTGTTATCGTGCATCATTTATAACAGCAAAAGAATGGAAACAGCATGAATGTCCACCTGTTGGTGGAGAGTTAAATAAACTAACATGGAAGAATCTTCAAAACACAATGGTAATTAGCAGAAAGCAAGTTGCAGACCAAGACATTCAGTACACCAATTGGCTTTAAAATAACAATAATAATCATCACCTTCTAGGATACATATATATGTTAACACATCACAGGGAAAGTCCTAGAAGAAAACACACCAAACTGATAACAATAGTTACCGGGGACGGGAGGCAAAACCCAGGCTAATTTTGTCTTAATTATATTCAATAAGAATAATGTATTTATGTATTATTTCTGTAATTAAAAATTAATTAAACGGGGACTGGTGGACAAGGTGGGTATATGCAGCTCTATGCACTATCTGCTCATTTATTTGGTAAATCTAAAACTGCACTAAAAAGTCTATTAGTTATAAAAAAAGTTTACTTTAAAATGGAAAATAGTTGCTTAAAATCAAAGAGACATTCTATGTAAACAATTATTCCAACAGACTGAGTTGAAATTGTTGTTGAGGAATGGGCAATTATAATAACAGAGGGGGTGTGTACTTCGGTGTCTGTGGGGAGTGAATTCCTCAACCTCAGATCGTGCGCACCCCACTGCAATCACAGACATTCGTTTTGTGCTTGGGAATCCTTTGACTCCAAAATCATGAAAACTGAAAATTTGCTTTTTACCATCTTTGTCTGAGGGCAGGTTCTATACTGTCTAATGGAACTGGTTTTGAGAAGATCACAACATACTTACAATAAACCCTCTGAATAGGAAGTGTGGGACTACAATATATTAAGAAGTGATACATTCAGATAGAAGGCCACAAATCTGGGTGGAAAACGTGGTTGGTTTTCAGATCATAGTCCATAGAATCCTATCACAACGGTGGAGAAAAGCAGTTCCTGGAACACCCCACCCCTTAACCCCTTATCTCTGCTTCAACCAGAGCTCTTCTGTGTAACATTTCATTTAAGCAAAGGATTCGGCAAATCAAAAATTGTCAACCACGATTAATTTAGACTATCCAGCTTGGTGGATTTTCAACTGAGCACTCCTATCCACAGAATGCTGACAAATGAATCATAGCCGCCATGTGAAAAGTCTGAAGAAGTGTGTAGAAGGGCTTCATTCTTGACTCTGTCCTACTCAGAACTGTAGTTAGTGACTTGGATAAAGACATATGCGACATGCTTAGCTAAGTGACAGGTCTCAGGAAGATAGCAGGAAAACATCCTGGTTGAGAAGGCAGATCCAAGAAGTCCTGACAATCTTTAACAATTGTTTAAACCAAATGTTTAAGGTTAACAACATCAGGGACCAAAGTTTTGTTCTTATGTTTAAAAAAAATCCCAGAATAAGGGAGGTAATGGTCTTTTTTTTCTGCCTTGAATAAACAACACTTGAGAACTGTAAATAAATTCT
AAGATTGTCTCTCTAATGTTAAACATGCTTTTTTCCCAGTGAGTGCATGATATAAAATATTCCAAATAAAACAGCAAAGTTGGAAGGAGAACATATAACATTTCTAATTATTTACAATGAGCTTAATACTCCCTCATATTGAAATATTTTAAAGATTTGGCTCAACTTGTAAGGGCCAAACATATCAGCAATGTTTGTTCTGGCTAAGAGTAGCATTGCCTACAAATATCATAGCCTAAGATTGATATTTGAGAGTTTGGAAATCTTAAGCTTTTATTTGGTGTCACAGAGAAACAGGATCTGTATCTCTTATTGCTAAGCCTTTGATTTGTTTCAGCTAATTGCCTGTATTTGGATATTTAGCTTACTCTAATTCCTTACTTCAAGTATTGATACTTTTGTGCATAATAAAGATTCCTTCATTCTTAAATCATTGACTAGGGGATTATTATGATTGACTTAAACTATTCAACATTTACTCTTGAAATGGAGAGAAATTTACCTACCTTGAAGATTGGAAGCCCAACTAATATCAGGATTCTATTAGAAACAGGAGGAAAGTGAAATGGATTTGGGGTAGGCAAACGACAATGTATTCTATAGTATTCCTACAGACATATCTACAAACACACTTTTTCACATATTTGTGTAAGTCATTTATGCACAGATGCATACCTTAGCCACATTTATGACACCATATACTTAAATATATGTTCATACATATATGCAAGAAACCTAAGCACAACAAATAAAAAATGATGCAAGAGAATAAGATAAGATTTTGTGTATTGGGAAATAACAGAAGCGGGTGAAAACAAGATGAGTGTAAAAGAATGCAGTATGTTAATGGGATGGAAGAGAATGAGGGTAGTGCAGTTGGGGTAAATGGTTTGCCAAATAGAGAAGGTGATGACTGGGGAGATGACTTTGTGGGAGACTTGAACAGGAAGGAAGGGTCTACAAAAGTAGTTTAAAGAAAGAGTATTTTGTAGATGTAAGGATGGATGCTTAACAGCCACACAAAGTAGACCTAATAGTACAGGCATCATTTCATATGAGTTAGAAGAAATGAACACAAGTTTTTTCCTGCATAAAATTAAAACCAGGCCAAGCACGACGGCTCACGCCTGTAATCCCAGCATTTGGGGAAGCCGAGAAGGGCAGATTACCTGCGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGCCTCTACTAAAAATATAAAAATAAGCCAGGAATGGTGGCCCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCAGAAATCACACCACTGTACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCGAAAAAATAAATAAATAAATAAAACCATTGCACTATTGTGTTAGGATGGATTGCTAGGTTAAGGGCAAAATCATTGCTCAAGGGTCACATAGATTGTCATATTGACTGAAATCCATGATTCATCTAGTCTGGATTTCTGTGAAATCTATAAAAATAGATGTCCTTCCTCCCGTCACAGCTAAATGTTAGATCTTAACAGTTTCTCTTCAGGTCCACCTATTATTTTGTCAGCATAAACTTGTTCACCTTTTTTACTATGTTATGACTTTTAAATATTTTAGCAATACTGAAGGAAATTTAAAGAAAAAAGACCACAAGAGTTTCCTATTTCTAACACCACTGATTTTTTCCATGTTCTTTCCCAGTCTTTATTCACTATGCATCTAACTTAAACATGTAAATGTTCTGCTTCACGTTTTGCCAAACATTATGTCTCAAATATTTTCCATGATGCTACATGGTTTACCTTTTTAATAATTTTAACAACATAATTCTAAATCTTGATACATTAAAATGCTTAGTTTTATAATATATTTTCATACTTATATAAATGTGACTATCTCTCCTTCTGTACCTAGGTATAGAAGTTGGTCCTCAGCCTCAAGGGGTTCTGAGAGCTGATATCTTGGATCAAATGAGAAAAATGATTAAACATGCTCTTCATTTTATACATCATTTCAATGAAGGTAAGTAATAATGAAGGTAACGTTATCAAACTTAACCACCAAACATTTAAATAACAATTGGAACCTGGGTCAGATTTGCCATGCTAAAGATATGAAGTGCTTTTTAAAATTTTTATTCACTTCAGCTATTCCCCAATGGCCAGGATAGACACATTCAAGAAAAGCAGCTGCCAAATAAAGACTCCACATTAAATCCTTATTTCCTGCTAATCTCCATTTTAAAAAGAAAAGACGAGAAAATACAAATGCCCAGTAAACATATGAAAAGATGTTCAACATCACTAGTAATTAGAGAAATGCAAATTAAAATAAGAAGTCACTTCCCCCATTAAGTTGGGAAAATATTAAAGTCTGCAAATATCAAGCGTTGGTAAATGTGTAGGAAAAGGGGAAACTCTCATTACCTGCTGGTGAACATATAAGTGAACATATAAGTTGGTAAAGACATTTTAGAGGATAATCTTACAGCATCCACTTCTTAAAACACACCAATCTTATTACCCAGCGATTCCACATCTCAAAGAAACACAAGCACAAGCAACATGTTGTTTACAAAGATTGTTATCGTGCATCATTTATAACAGCAAAAGAATGGAAACAGCATGAATGTCCACCTGTTGGTGGAGAGTTAAATAAACTAACATGGAAGAATCTTCAAAACACAATGGTAATTAGCAGAAAGCAAGTTGCAGACCAAGACATTCAGTACACCAATTGGCTTTAAAATAACAATAATAATCATCACCTTCTAGGATACATATATATGTTAACACATCACAGGGAAAGTCCTAGAAGAAAACACACCAAACTGATAACAATAGTTACCGGGGACGGGAGGCAAAACCCAGGCTAATTTTGTCTTAATTATATTCAATAAGAATAATGTATTTATGTATTATTTCTGTAATTAAAAATTAATTAAACGGGGACTGGTGGACAAGGTGGGTATATGCAGCTCTATGCACTATCTGCTCATTTATTTGGTAAATCTAAAACTGCACTAAAAAGTCTATTAGTTATAAAAAAAGTTTACTTTAAAATGGAAAATAGTTGCTTAAAATCAAAGAGACATTCTATGTAAACAATTATTCCAACAGACTGAGTTGAAATTGTTGTTGAGGAATGGGCAATTATAATAACAGAGGGGGTGTGTACTTCGGTGTCTGTGGGGAGTGAATTCCTCAACCTCAGATCGTGCGCACCCCACTGCAATCACAGACATTCGTTTTGTGCTTGGGAATCCTTTGACTCCAAAATCATGAAAACTGAAAATTTGCTTTTTACCATCTTTGTCTGAGGGCAGGTTCTATACTGTCTAATGGAACTGGTTTTGAGAAGATCACAACATACTTACAATAAACCCTCTGAATAGGAAGTGTGGGACTACAATATATTAAGAAGTGATACATTCAGATAGAAGGCCACAAATCTGGGTGGAAAACGTGGTTGGTTTTCAGATCATAGTCCATAGAATCCTATCACAACGGTGGAGAAAAGCAGTTCCTGGAACACCCCACCCCTTAACCCCTTATCTCTGCTTCAACCAGAGCTCTTCTGTGTAACATTTCATTTAAGCAAAGGATTCGGCAAATCAAAAATTGTCAACCACGATTAATTTAGACTATCCAGCTTGGTGGATTTTCAACTGAGCACTCCTATCCACAGAATGCTGACAAATGAATCATAGCCGCCATGTGAAAAGTCTGAAGAAGTGTGTAGAAGGGCTTCATTCTTGACTCTGTCCTACTCAGAACTGTAGTTAGTGACTTGGATAAAGACATATGCGACATGCTTAGCTAAGTGACAGGTCTCAGGAAGATAGCAGGAAAACATCCTGGTTGAGAAGGCAGATCCAAGAAGTCCTGACAATCTTTAACAATTGTTTAAACCAAATGTTTAAGGTTAACAACATCAGGGACCAAAGTTTTGTTCTTATGTTTAAAAAAAATCCCAGAATAAGGGAGGTAATGGTCTTTTTTTTCTGCCTTGAATAAACAACACTTGAGAACTGTAAATAAATTCT
Task1_train_23213
Here is a mutation in ASPA, SPATA22 (aspartoacylase| spermatogenesis associated 22) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Spongy degeneration of central nervous system
TGTGTTCTATCAGTTTTTACTTTCTTCCTATCCAACTTTTTGGTTTAAAGAAATGAGATCTGGTAAGTTCCCATCTTCATCTTGGAAGGTGTGGTAGATTTTAATTCTTCCCTTTCCCGCGTCCACATCCTGGCAGTGTGATGTTTCATATCCTTCTGTTCAGAGATAGAGTCTATTTTTCCACTTCTGGAATAGCTGGCTTGCCCATGTGAATTGTTTTGTGCCATAGAAGAGGCTTGAAAAGCACTTGCACATTGGAGCTTGCTCTCTTCCTGCTCTTGGAAACCCTGTACGTGTACCATTATGTACAACAGCCCACATTGGCCTGCTGGATAATGAAAGCCTTTGAGGTGGAAAACTCAGGCACCCTAACAGACAGAGTCATGCAACTCCAGCTGACAGCCCATCAGACATAACAGTAAGGCCATCCCATAGGATCCAGCCTCCAGGTGAGCTGTCAGCTTACCACAAAGGCAGGAGCAAAACAATAAAAAAAATCCACAAAGCCAGTGTAGACGGAAGAAACTTTCCAACCAACCCACAGAATCATGAACTAAATTAGGAGGTGGTTGTTTGAAGCCACTAAATTCTGGGGTAGTATGTTATGCAGCAGAAGCTAACTGATACAGAAGTGATCACTGGGCATACCCATTCTAACTCTGCTCTAAAAGCAAAGGAAGGCTTTCCTTTGAGTTGTGACCATAACACGCTGTGGGCCCTACATTGGACCAAACGTTCATCCTGTTTGCTCAGAGATAGCCTGGTATATGCATAAACTACTCCTTTTCCAAGTTTCTGGGAATTGGGTTGAGGTTGCTGCATCTTTGGAAGTTGGTCTCCACCACTGGCAGGCTGCCTGCATCACAAGATCTCATTACTCAGGAGCTGTCCAAGTGTCTAATGTACTTAGTTAAGAAAAAGAGGCTGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTGGGGAGGCTGAGGCGGGCGGATCACAAGGTCAAGAAATCGAGACCATCCTGGCCAACATGGTGAGACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGCATGCCCATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGACCACGCCACTGCACTCCAGCCTGGGTGAAAGAGCGAGGTTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGGAAAGAAAAAGAGCACGATACTGAAGTCACCTCAGTTGCTGGAACTCCTCCTGAAAATATGCAGTCATAAAACATCATAGCTGGAAGGGTCCTCCAAGATAAGCTAATCCAATACCTTCATTTGACAGGTCAAGAAAGCGAGCCTCAAGAAGTTAAGCATCTTGTTCAAGGCCGCATAGCCAGGGGATTAGAGCCCAGGTCTCCTGACCCCTAAACCTAGATTCTTTTTCTCTCAAACTGGCTTTTTCAGTTCTGTTTTCTACCTCTGGCCGTCGGCGTGTTTGTGGACAGAGTGCTGATAGGAATCATTCAAGGACATCTTTTGGCCTAGTGCTGTTTATGAACATCCTTAACTAAACGTTATCTGTTCTCCCCATAGCTGTCTTCATTTTGTTATTGTTGCTGTTGTTATTATTGTTTCTTCCTTACATTGTTAACTTCCCTTTTTCCAGATTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCCCAGGTTGGAGTGCAATGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAACTAGGATAATCCCAACCTGGGTATTTTTAGTGGAGATGGGGTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGACCTCAGGTGATCCACCCAACTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACCACACCCGGCCCAGAGATGTTTTTAGTTGCCATTGATACATATTGTTTTTGTCATAGGAAAAGAATTTCCTCCCTGCGCCATTGAGGTCTATAAAATTATAGAGAAAGTTGATTACCCCCGGGATGAAAATGGAGAAATTGCTGCTATCATCCATCCTAATCTGCAGGTAACATTTGTTCTTTCTTTAAAATGTTGAAAATAATAATGCTGTACCTTTGAATAGAAGTTTATAGCTCATACAGCACTTCGCGTACATTCGCCCATTTGATGCTCTCATTAGACACTGAGTGTAGATAGGGAAGATGTTCGGACTGTCGCTCAATAAATACTTATTCAGTGTAACCTGTGCTGGCTGTGTGGACACACCAGTAAGTATGGCCTGCACGCTCAATGGAATTTATAGTGTAGGTACACAAAAGTCTAACTTTAGTCTAGAAATGAAGACAGCCAGATGAGATGACAGAATAATGAGATGGGAGAGGAGTGGTCAGACAAGGCCACTTAGAGAAAGTGAAACTCCTACCCACATTCAGCGGGTGGGAATTATGATGTCTATTTTAATATAAGGAAATACAGGGACGGAAGTTAGAACCTTCCCACAGCCATGTAGCTATCAATGACAGATCCAGAGTTAGTGCTCTTTCAAGTTGGCCGCATCACTTGCTACCTCCCTGTGACAGAATAAGTTAGAGAAAAACGACTGGAACCTCTTTCTTCTGCCACCATTCCCCAACTCTCCTCAGAACCCCCAGAATCTACTCCTTGCCTAGTTTTATCAATAATGACATAGTGAAGAAGGAAAAAAAAAAGGCTCTTGAGAGAATGTAGGAGGTTTAAATCCGGAAAAGGCAAAGGGAAAAGGAGAGAAGAACAGATTTCCAAAGCCAAAGTATCCATTCCCCAGTGCAAGTGGCCTGCACACTCCCAGACCTCAGAGATGGAAGAGAACTGGTGGATTATCTAGTCCAGGGCTTTCAACCCCGACTAACCTTTACCTAGAGAGCTTTTAAAAAACATCATAATAGCAATGGCAGGACTCCACTCTGAGATACTCTGATCTTTTTGGCTTGGATAATCAGGATTGAAAAACACTGATTGATCCAGTTCCTATCCCTGTTTAGTGACTCTAATAGTCATCCAGACTTGCAACTGAATGAAGTGGCCTGCCCAGTAATACAGACGAGTGAAGCAAATCCTGCTTTGTGGCTTAATGGGACCCAGGTGGAAACCTGAAGAAGCAGCCTTAGGCAGTGTTTGTTTTTGTTTTTGTTTTTGTTTTTGTTTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAAGCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCTCACGTCACCACACCCGGCTAACTTTTGTATTTTTAGTGGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCCTGACATCATGATCCACCTGCCTCGGCCTCCCAAAGTGGTGGGATTACAGGCATGAGCCACCTTGCCCAGCCTTAAGCAGTGTTTTAAAGGAAAGGTAAAGACTGGGGGAGAGAAAGGAAGAAAGCACTATTGGTGACAAAAATATCAAGTACAAGAAACAGAGGCCAAGGTGATGATATCATGGCAGGCTAAAACAGGATTTTTCAGGTTTTAGGATACTCTTGAGGAGTACAAAAATAATCCCAGGCAGACGGAGAAGTGAGATGAATGAGATCAGTAGCAAACTGGGCTAGTGGTAGGTCTCGAAAGTTAGGAAGGATGGTTTTGATTTGACAGACAATAATGAATGGCTCAGTATTCTACAGGAGGGATTGATTGGTTAATTCTGCCAACAAATATTTTTGAATGACAACTAAGCTCATTCTGGGCCTTGAGATTCAAGATAGGGAAGGTTCCTCATGGAGCTTCCATCCCAATGGGTGAGGAGAACTGACCATGAATAAGTAAACAATATGTAAACCAAATCATTTCAAACTGTAATAAGTGCTGTAAAAGAAATACACAAAATAATATAGCAGAGGGTATAACAAAGGGTTCCAATTAGACGGAGTGGTCACAAAGTGCCATCTCAGAGATGGTGGCACTGAAGTTGGAACCTA
TGTGTTCTATCAGTTTTTACTTTCTTCCTATCCAACTTTTTGGTTTAAAGAAATGAGATCTGGTAAGTTCCCATCTTCATCTTGGAAGGTGTGGTAGATTTTAATTCTTCCCTTTCCCGCGTCCACATCCTGGCAGTGTGATGTTTCATATCCTTCTGTTCAGAGATAGAGTCTATTTTTCCACTTCTGGAATAGCTGGCTTGCCCATGTGAATTGTTTTGTGCCATAGAAGAGGCTTGAAAAGCACTTGCACATTGGAGCTTGCTCTCTTCCTGCTCTTGGAAACCCTGTACGTGTACCATTATGTACAACAGCCCACATTGGCCTGCTGGATAATGAAAGCCTTTGAGGTGGAAAACTCAGGCACCCTAACAGACAGAGTCATGCAACTCCAGCTGACAGCCCATCAGACATAACAGTAAGGCCATCCCATAGGATCCAGCCTCCAGGTGAGCTGTCAGCTTACCACAAAGGCAGGAGCAAAACAATAAAAAAAATCCACAAAGCCAGTGTAGACGGAAGAAACTTTCCAACCAACCCACAGAATCATGAACTAAATTAGGAGGTGGTTGTTTGAAGCCACTAAATTCTGGGGTAGTATGTTATGCAGCAGAAGCTAACTGATACAGAAGTGATCACTGGGCATACCCATTCTAACTCTGCTCTAAAAGCAAAGGAAGGCTTTCCTTTGAGTTGTGACCATAACACGCTGTGGGCCCTACATTGGACCAAACGTTCATCCTGTTTGCTCAGAGATAGCCTGGTATATGCATAAACTACTCCTTTTCCAAGTTTCTGGGAATTGGGTTGAGGTTGCTGCATCTTTGGAAGTTGGTCTCCACCACTGGCAGGCTGCCTGCATCACAAGATCTCATTACTCAGGAGCTGTCCAAGTGTCTAATGTACTTAGTTAAGAAAAAGAGGCTGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTGGGGAGGCTGAGGCGGGCGGATCACAAGGTCAAGAAATCGAGACCATCCTGGCCAACATGGTGAGACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGCATGCCCATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGACCACGCCACTGCACTCCAGCCTGGGTGAAAGAGCGAGGTTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGGAAAGAAAAAGAGCACGATACTGAAGTCACCTCAGTTGCTGGAACTCCTCCTGAAAATATGCAGTCATAAAACATCATAGCTGGAAGGGTCCTCCAAGATAAGCTAATCCAATACCTTCATTTGACAGGTCAAGAAAGCGAGCCTCAAGAAGTTAAGCATCTTGTTCAAGGCCGCATAGCCAGGGGATTAGAGCCCAGGTCTCCTGACCCCTAAACCTAGATTCTTTTTCTCTCAAACTGGCTTTTTCAGTTCTGTTTTCTACCTCTGGCCGTCGGCGTGTTTGTGGACAGAGTGCTGATAGGAATCATTCAAGGACATCTTTTGGCCTAGTGCTGTTTATGAACATCCTTAACTAAACGTTATCTGTTCTCCCCATAGCTGTCTTCATTTTGTTATTGTTGCTGTTGTTATTATTGTTTCTTCCTTACATTGTTAACTTCCCTTTTTCCAGATTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCCCAGGTTGGAGTGCAATGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAACTAGGATAATCCCAACCTGGGTATTTTTAGTGGAGATGGGGTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGACCTCAGGTGATCCACCCAACTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACCACACCCGGCCCAGAGATGTTTTTAGTTGCCATTGATACATATTGTTTTTGTCATAGGAAAAGAATTTCCTCCCTGCGCCATTGAGGTCTATAAAATTATAGAGAAAGTTGATTGCCCCCGGGATGAAAATGGAGAAATTGCTGCTATCATCCATCCTAATCTGCAGGTAACATTTGTTCTTTCTTTAAAATGTTGAAAATAATAATGCTGTACCTTTGAATAGAAGTTTATAGCTCATACAGCACTTCGCGTACATTCGCCCATTTGATGCTCTCATTAGACACTGAGTGTAGATAGGGAAGATGTTCGGACTGTCGCTCAATAAATACTTATTCAGTGTAACCTGTGCTGGCTGTGTGGACACACCAGTAAGTATGGCCTGCACGCTCAATGGAATTTATAGTGTAGGTACACAAAAGTCTAACTTTAGTCTAGAAATGAAGACAGCCAGATGAGATGACAGAATAATGAGATGGGAGAGGAGTGGTCAGACAAGGCCACTTAGAGAAAGTGAAACTCCTACCCACATTCAGCGGGTGGGAATTATGATGTCTATTTTAATATAAGGAAATACAGGGACGGAAGTTAGAACCTTCCCACAGCCATGTAGCTATCAATGACAGATCCAGAGTTAGTGCTCTTTCAAGTTGGCCGCATCACTTGCTACCTCCCTGTGACAGAATAAGTTAGAGAAAAACGACTGGAACCTCTTTCTTCTGCCACCATTCCCCAACTCTCCTCAGAACCCCCAGAATCTACTCCTTGCCTAGTTTTATCAATAATGACATAGTGAAGAAGGAAAAAAAAAAGGCTCTTGAGAGAATGTAGGAGGTTTAAATCCGGAAAAGGCAAAGGGAAAAGGAGAGAAGAACAGATTTCCAAAGCCAAAGTATCCATTCCCCAGTGCAAGTGGCCTGCACACTCCCAGACCTCAGAGATGGAAGAGAACTGGTGGATTATCTAGTCCAGGGCTTTCAACCCCGACTAACCTTTACCTAGAGAGCTTTTAAAAAACATCATAATAGCAATGGCAGGACTCCACTCTGAGATACTCTGATCTTTTTGGCTTGGATAATCAGGATTGAAAAACACTGATTGATCCAGTTCCTATCCCTGTTTAGTGACTCTAATAGTCATCCAGACTTGCAACTGAATGAAGTGGCCTGCCCAGTAATACAGACGAGTGAAGCAAATCCTGCTTTGTGGCTTAATGGGACCCAGGTGGAAACCTGAAGAAGCAGCCTTAGGCAGTGTTTGTTTTTGTTTTTGTTTTTGTTTTTGTTTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAAGCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCTCACGTCACCACACCCGGCTAACTTTTGTATTTTTAGTGGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCCTGACATCATGATCCACCTGCCTCGGCCTCCCAAAGTGGTGGGATTACAGGCATGAGCCACCTTGCCCAGCCTTAAGCAGTGTTTTAAAGGAAAGGTAAAGACTGGGGGAGAGAAAGGAAGAAAGCACTATTGGTGACAAAAATATCAAGTACAAGAAACAGAGGCCAAGGTGATGATATCATGGCAGGCTAAAACAGGATTTTTCAGGTTTTAGGATACTCTTGAGGAGTACAAAAATAATCCCAGGCAGACGGAGAAGTGAGATGAATGAGATCAGTAGCAAACTGGGCTAGTGGTAGGTCTCGAAAGTTAGGAAGGATGGTTTTGATTTGACAGACAATAATGAATGGCTCAGTATTCTACAGGAGGGATTGATTGGTTAATTCTGCCAACAAATATTTTTGAATGACAACTAAGCTCATTCTGGGCCTTGAGATTCAAGATAGGGAAGGTTCCTCATGGAGCTTCCATCCCAATGGGTGAGGAGAACTGACCATGAATAAGTAAACAATATGTAAACCAAATCATTTCAAACTGTAATAAGTGCTGTAAAAGAAATACACAAAATAATATAGCAGAGGGTATAACAAAGGGTTCCAATTAGACGGAGTGGTCACAAAGTGCCATCTCAGAGATGGTGGCACTGAAGTTGGAACCTA
Task1_train_23214
Here is a genetic alteration in ASPA, SPATA22 (aspartoacylase| spermatogenesis associated 22) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Inborn genetic diseases
GCTACTCGGGAGCCTGAGGCAGGAAAATTGCTTGAACTCGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGACAGAGCTGAGATTACGTCTAAAAAGAAAAAGAAAAAATGCTGATTTCTGAGTCCTCTTCCCAGGGGCTCTGATCTAATTCATCAGGGTGTAGACAGGGAATCAATTGAGTTCACCAGGTGATTTTCATGTGGCTCAGGTCTGGATAGCACTGCACAATGTCGGAATCTCCACAGGTGGGGCTAGCCAGACGTGTGTTGAAGAGGTTCCTTTAGTGATTCTGGGGCAAGTCTCTGCCTGAAAAACCACCGGTTCAGAGAAATAGTTCTCAGCCGAGCCACCCTGTAAATCATCTGGGGCCTAAATACAATAAACACAGAAAACAGTGAACTATAAATGGGTAGCATGAGGGATTCGAGGAGGTGGCTGAAAGAAGCACGTATCCTGATGGCATGGTTGCGGGTTATATGACTCCATGCTCTGCAAGTCAGAACTCATAGAACTGCACACAAAAATGAGCGAATTTCACTGTAGGTAAATTTAAAAATAAAATATAAAAATAATGATGCCTAGGCCCTCCTCTCAGATTCTGATTTGATTTATCTGAAATGGGCCAGCCCCTCTACCTGTATATATGTATTTAACATCCCAAGCGATCATAATGTGCCACCAGGATGGAGAAAACTGCGGTGATGCGGCACTTCCCAAACACTAATGTCGTGCACGTGAACGTCAAGGACCTGTTAACATGAAGATTTTGATTTGGTAGGTCTGCTGCGCATAATGAAATCCTGCTTTTCTAACAGGCTCCTGGGTGATGCGGATGCTGCTGGGAAATGTTAGACATGCAGAATCCCAGGCCCCCACCCCCAACCTATAGAATCAGAATCTTCATCTTAACAAAATCCCCAGATGATTTACAAGCACCTCAAAGTTTGAGAAGAACTGTTCTGGGGTTCCCGTGGTGTGACAGCCATGGTGCTTGAGGGCTCAAAGGTCCAAATCCCTGGTGCGGGACCCTTCAGATAACTCAGTTGTTACCCTAATGTAGGAGCACATTTGGAATACACCCACCTTGTCCCAGACTCTCCCCAGCCCAGCACCACCTTCTCTCACCAATCCCCGTCAGAATAGAATCTCCTTGTATGCAGGTACAACATGGCTCATTTTTATATTTCCCAACGGTAGAATGTCTTGCACACAGAAGACTCCTAATGGATATTTCCTAAATTTTGCTGAACAGAATTTAACTTGAGCTGGCAACAGGCAGACTATGCACTTAGGTAGACATGCATTTAGTTTTGCCTTTTAATATTATAAATCTCTTTGGCTACATTCAAGGTAAACCTGGTATTGAAGCAAACTCTTTTTTATTTTTTTTTAGAGACAGGGTTTCATTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGAACATAGCTCACTGTAGCCTCAACCTCTGGGGGCTTGAGCAATCCTCCCACCTCAGCCTCCTGAGTATCTGGGACTACAGGCATGCACCACCACACCCAGCTAATTTTTCGTATTTTTTCTAGAGATAGGATCTCTGTGTTGCCCAGGCTGGTTTTGAACTCCTAGGCTCAAGCGATCCACCCACATTGGCCTCCCCAAGTGCTGGGATTACAGGCAAGGAGCCACTGCACCTGGCTGAAGCAAATGTTAATTACACGTTTCAATTATACAAATGCAAAGGGGAACTCTTAAAACTACTGCCAAAATTCACGACCCAATGTCAGCGCAGTCAGATCACTTGCCTGCATCTCAATGCCTCGCTCAAGTATCTCTTTTAAAACAACAGAATACTGTAATTTGTTAGTTGTCTAGAGTCTGACATAAATTTTTAGAGGAGAAAAACCAAATATAATATATTTATTTTGATTGTTTCCTGAGAGGATCAAGACTGGAAACCACTGCATCCTGGGGATCCCATGTTTTTAACTCTTGATGGGAAGACGATCCCACTGGGCGGAGACTGTACCGTGTACCCCGTGTTTGTGAATGAGGCCGCATATTACGAAAAGAAAGAAGCTTTTGCAAAGACAACTAAACTAACGCTCAATGCAAAAAGTATTCGCTGCTGTTTACATTAGAAATCACTTCCAGCTTACATCTTACACGGTGTCTTACAAATTCTGCTAGTCTGTAAGCTCCTTAAGAGTAGGGTTGTGCCTTATTCAACTGCATACATAGCTCCTAGCACAGTGCCTTATTCGGTAGGCATCTAAGCACATTTCTTAAATTAATTAATATATCTTTAAAGATATCATATTTTATGTATGTAGCTTATTCAAAGAAGTGTTTCCTATTTCTATATAGTTTATTATACATGATACTTGGGTAGCTCAACATTCTTAATAAACAGCCTTTGTATTCAGAATATAAAATTGAAATAGATATATATAAAGTTATTTGTTTTATTGTGCTTTGCCTTACTACACTTCACGGATACTGTACTTGTACTTTTTTTCCAAATTGAAGGTTTTTGGCAACCCTGTGTCTAGAAAGTCTAACAGTGCCATGTTTCCAACAGCATGTGCTCACTCCTTGTCTCTGTGTCACCCTTTGATAATATTTCAAGCTTTTTTATGATTTATTTATTATATCTGCTATGGTGATCTGTGATCAGTGGCCTTTGATGTTACTGTTGTTAAGTGTTTTGGGGCACCATGAATCGTGCCCATGTGAGACTGCGAACTTAGTGAATGTTGTGTGAGTTCTAACTGCTCTACTGACCGGCCATTTCCTTGTCTCTCTCCCTGTCCTCTGGCCTCCCTGTTCCTTGAGACACAATAATTAATAAGTCTACAGCAGACTCTGTGTGTTCAAGTGAAAGAAAGGGTCATACTTCTAGAAATTAAGCTTAGTAAGGAAGGCATGTCAAAAGCTGAGACAGGCTGAAAGCTAGGCCTCTTGCACTGGTTAGCCAAGTTGTGAATTCAAAGAAAAGGATCTTGAAGAAAATTAAAAATTCTACTCCAGTGCACACACACAAATGATAAGAAAGCAAAACAACCTTATTGCTGATATGGAGACAGTTTTAGTGGTCTGGATAGAAGATCAAACCAGCCACACATTAAGCCAAAGCATGACCCACAGCAAGGCCCTAACTCTCTTCAATTCTGTGAAGGCTGAGAGAGGTGAGGAAGCTGCAGGAAGCTGGGAGAGGTTGGTTCACAAGGTTTAAGGAAAGAAGACAGCTCTAAAACCTACAAGTGGAAAGCGAACCAGCAAGTTGCTGATGTGGAAGCTGTAGCAAGTTATCCAGAAGATGTAGCTAAAATCATTGACAAAGATGGCTACACTAAACAACGGATCTTCAGTGTAGTTGAAACAGCCTTCTATTGGAAGAAGATGCTATCTAGGACTTTCCTAGCTAGAGGGGAGAAATGAATGCCTAGCTTCAAAGCTTCAAAGGACAGCCTGACTCTCTTAAGAGCTAACACAGCTGGTGACTTTGGGTTAAAGCCAAAGCTCATTAACTGTTTCAAAAATCCTAAAACTCTTGTTTTTTGTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGAGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGCATTTTTTTAGTAGAGATGGGGTTTCACTCTGCTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCCAAAAATCGTAGGACTCTGAAGACTGATGCTAAACCTGCTGTGTCTGAGCTCTATAAATGGAACAACAAAGCCTCGCTGGCAGCACATCTGTTTGCGGCATGGTTTACTGTATATTTTAAGCCCACTGTTGAGACCTACTGCTTGGGAAAAAAAAAAATTCCTTTCAAAATACTACTGCTGATTGACAATACACCATGTTACCCAAGAGCTCTGCTGGAGATGTGCGAAGAGATTAGCATTGTT
GCTACTCGGGAGCCTGAGGCAGGAAAATTGCTTGAACTCGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGACAGAGCTGAGATTACGTCTAAAAAGAAAAAGAAAAAATGCTGATTTCTGAGTCCTCTTCCCAGGGGCTCTGATCTAATTCATCAGGGTGTAGACAGGGAATCAATTGAGTTCACCAGGTGATTTTCATGTGGCTCAGGTCTGGATAGCACTGCACAATGTCGGAATCTCCACAGGTGGGGCTAGCCAGACGTGTGTTGAAGAGGTTCCTTTAGTGATTCTGGGGCAAGTCTCTGCCTGAAAAACCACCGGTTCAGAGAAATAGTTCTCAGCCGAGCCACCCTGTAAATCATCTGGGGCCTAAATACAATAAACACAGAAAACAGTGAACTATAAATGGGTAGCATGAGGGATTCGAGGAGGTGGCTGAAAGAAGCACGTATCCTGATGGCATGGTTGCGGGTTATATGACTCCATGCTCTGCAAGTCAGAACTCATAGAACTGCACACAAAAATGAGCGAATTTCACTGTAGGTAAATTTAAAAATAAAATATAAAAATAATGATGCCTAGGCCCTCCTCTCAGATTCTGATTTGATTTATCTGAAATGGGCCAGCCCCTCTACCTGTATATATGTATTTAACATCCCAAGCGATCATAATGTGCCACCAGGATGGAGAAAACTGCGGTGATGCGGCACTTCCCAAACACTAATGTCGTGCACGTGAACGTCAAGGACCTGTTAACATGAAGATTTTGATTTGGTAGGTCTGCTGCGCATAATGAAATCCTGCTTTTCTAACAGGCTCCTGGGTGATGCGGATGCTGCTGGGAAATGTTAGACATGCAGAATCCCAGGCCCCCACCCCCAACCTATAGAATCAGAATCTTCATCTTAACAAAATCCCCAGATGATTTACAAGCACCTCAAAGTTTGAGAAGAACTGTTCTGGGGTTCCCGTGGTGTGACAGCCATGGTGCTTGAGGGCTCAAAGGTCCAAATCCCTGGTGCGGGACCCTTCAGATAACTCAGTTGTTACCCTAATGTAGGAGCACATTTGGAATACACCCACCTTGTCCCAGACTCTCCCCAGCCCAGCACCACCTTCTCTCACCAATCCCCGTCAGAATAGAATCTCCTTGTATGCAGGTACAACATGGCTCATTTTTATATTTCCCAACGGTAGAATGTCTTGCACACAGAAGACTCCTAATGGATATTTCCTAAATTTTGCTGAACAGAATTTAACTTGAGCTGGCAACAGGCAGACTATGCACTTAGGTAGACATGCATTTAGTTTTGCCTTTTAATATTATAAATCTCTTTGGCTACATTCAAGGTAAACCTGGTATTGAAGCAAACTCTTTTTTATTTTTTTTTAGAGACAGGGTTTCATTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGAACATAGCTCACTGTAGCCTCAACCTCTGGGGGCTTGAGCAATCCTCCCACCTCAGCCTCCTGAGTATCTGGGACTACAGGCATGCACCACCACACCCAGCTAATTTTTCGTATTTTTTCTAGAGATAGGATCTCTGTGTTGCCCAGGCTGGTTTTGAACTCCTAGGCTCAAGCGATCCACCCACATTGGCCTCCCCAAGTGCTGGGATTACAGGCAAGGAGCCACTGCACCTGGCTGAAGCAAATGTTAATTACACGTTTCAATTATACAAATGCAAAGGGGAACTCTTAAAACTACTGCCAAAATTCACGACCCAATGTCAGCGCAGTCAGATCACTTGCCTGCATCTCAATGCCTCGCTCAAGTATCTCTTTTAAAACAACAGAATACTGTAATTTGTTAGTTGTCTAGAGTCTGACATAAATTTTTAGAGGAGAAAAACCAAATATAATATATTTATTTTGATTGTTTCCTGAGAGGATCAAGACTGGAAACCACTGCATCCTGGGGATCCCATGTTTTTAACTCTTGATGGGAAGACGATCCCACTGGGCGGAGACTGTACCGTGTACCCCGTGTTTGTGAATGCGGCCGCATATTACGAAAAGAAAGAAGCTTTTGCAAAGACAACTAAACTAACGCTCAATGCAAAAAGTATTCGCTGCTGTTTACATTAGAAATCACTTCCAGCTTACATCTTACACGGTGTCTTACAAATTCTGCTAGTCTGTAAGCTCCTTAAGAGTAGGGTTGTGCCTTATTCAACTGCATACATAGCTCCTAGCACAGTGCCTTATTCGGTAGGCATCTAAGCACATTTCTTAAATTAATTAATATATCTTTAAAGATATCATATTTTATGTATGTAGCTTATTCAAAGAAGTGTTTCCTATTTCTATATAGTTTATTATACATGATACTTGGGTAGCTCAACATTCTTAATAAACAGCCTTTGTATTCAGAATATAAAATTGAAATAGATATATATAAAGTTATTTGTTTTATTGTGCTTTGCCTTACTACACTTCACGGATACTGTACTTGTACTTTTTTTCCAAATTGAAGGTTTTTGGCAACCCTGTGTCTAGAAAGTCTAACAGTGCCATGTTTCCAACAGCATGTGCTCACTCCTTGTCTCTGTGTCACCCTTTGATAATATTTCAAGCTTTTTTATGATTTATTTATTATATCTGCTATGGTGATCTGTGATCAGTGGCCTTTGATGTTACTGTTGTTAAGTGTTTTGGGGCACCATGAATCGTGCCCATGTGAGACTGCGAACTTAGTGAATGTTGTGTGAGTTCTAACTGCTCTACTGACCGGCCATTTCCTTGTCTCTCTCCCTGTCCTCTGGCCTCCCTGTTCCTTGAGACACAATAATTAATAAGTCTACAGCAGACTCTGTGTGTTCAAGTGAAAGAAAGGGTCATACTTCTAGAAATTAAGCTTAGTAAGGAAGGCATGTCAAAAGCTGAGACAGGCTGAAAGCTAGGCCTCTTGCACTGGTTAGCCAAGTTGTGAATTCAAAGAAAAGGATCTTGAAGAAAATTAAAAATTCTACTCCAGTGCACACACACAAATGATAAGAAAGCAAAACAACCTTATTGCTGATATGGAGACAGTTTTAGTGGTCTGGATAGAAGATCAAACCAGCCACACATTAAGCCAAAGCATGACCCACAGCAAGGCCCTAACTCTCTTCAATTCTGTGAAGGCTGAGAGAGGTGAGGAAGCTGCAGGAAGCTGGGAGAGGTTGGTTCACAAGGTTTAAGGAAAGAAGACAGCTCTAAAACCTACAAGTGGAAAGCGAACCAGCAAGTTGCTGATGTGGAAGCTGTAGCAAGTTATCCAGAAGATGTAGCTAAAATCATTGACAAAGATGGCTACACTAAACAACGGATCTTCAGTGTAGTTGAAACAGCCTTCTATTGGAAGAAGATGCTATCTAGGACTTTCCTAGCTAGAGGGGAGAAATGAATGCCTAGCTTCAAAGCTTCAAAGGACAGCCTGACTCTCTTAAGAGCTAACACAGCTGGTGACTTTGGGTTAAAGCCAAAGCTCATTAACTGTTTCAAAAATCCTAAAACTCTTGTTTTTTGTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGAGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGCATTTTTTTAGTAGAGATGGGGTTTCACTCTGCTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCCAAAAATCGTAGGACTCTGAAGACTGATGCTAAACCTGCTGTGTCTGAGCTCTATAAATGGAACAACAAAGCCTCGCTGGCAGCACATCTGTTTGCGGCATGGTTTACTGTATATTTTAAGCCCACTGTTGAGACCTACTGCTTGGGAAAAAAAAAAATTCCTTTCAAAATACTACTGCTGATTGACAATACACCATGTTACCCAAGAGCTCTGCTGGAGATGTGCGAAGAGATTAGCATTGTT
Task1_train_23215
A mutation in ASPA, SPATA22 (aspartoacylase| spermatogenesis associated 22), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Canavan Disease, Familial Form
GCTACTCGGGAGCCTGAGGCAGGAAAATTGCTTGAACTCGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGACAGAGCTGAGATTACGTCTAAAAAGAAAAAGAAAAAATGCTGATTTCTGAGTCCTCTTCCCAGGGGCTCTGATCTAATTCATCAGGGTGTAGACAGGGAATCAATTGAGTTCACCAGGTGATTTTCATGTGGCTCAGGTCTGGATAGCACTGCACAATGTCGGAATCTCCACAGGTGGGGCTAGCCAGACGTGTGTTGAAGAGGTTCCTTTAGTGATTCTGGGGCAAGTCTCTGCCTGAAAAACCACCGGTTCAGAGAAATAGTTCTCAGCCGAGCCACCCTGTAAATCATCTGGGGCCTAAATACAATAAACACAGAAAACAGTGAACTATAAATGGGTAGCATGAGGGATTCGAGGAGGTGGCTGAAAGAAGCACGTATCCTGATGGCATGGTTGCGGGTTATATGACTCCATGCTCTGCAAGTCAGAACTCATAGAACTGCACACAAAAATGAGCGAATTTCACTGTAGGTAAATTTAAAAATAAAATATAAAAATAATGATGCCTAGGCCCTCCTCTCAGATTCTGATTTGATTTATCTGAAATGGGCCAGCCCCTCTACCTGTATATATGTATTTAACATCCCAAGCGATCATAATGTGCCACCAGGATGGAGAAAACTGCGGTGATGCGGCACTTCCCAAACACTAATGTCGTGCACGTGAACGTCAAGGACCTGTTAACATGAAGATTTTGATTTGGTAGGTCTGCTGCGCATAATGAAATCCTGCTTTTCTAACAGGCTCCTGGGTGATGCGGATGCTGCTGGGAAATGTTAGACATGCAGAATCCCAGGCCCCCACCCCCAACCTATAGAATCAGAATCTTCATCTTAACAAAATCCCCAGATGATTTACAAGCACCTCAAAGTTTGAGAAGAACTGTTCTGGGGTTCCCGTGGTGTGACAGCCATGGTGCTTGAGGGCTCAAAGGTCCAAATCCCTGGTGCGGGACCCTTCAGATAACTCAGTTGTTACCCTAATGTAGGAGCACATTTGGAATACACCCACCTTGTCCCAGACTCTCCCCAGCCCAGCACCACCTTCTCTCACCAATCCCCGTCAGAATAGAATCTCCTTGTATGCAGGTACAACATGGCTCATTTTTATATTTCCCAACGGTAGAATGTCTTGCACACAGAAGACTCCTAATGGATATTTCCTAAATTTTGCTGAACAGAATTTAACTTGAGCTGGCAACAGGCAGACTATGCACTTAGGTAGACATGCATTTAGTTTTGCCTTTTAATATTATAAATCTCTTTGGCTACATTCAAGGTAAACCTGGTATTGAAGCAAACTCTTTTTTATTTTTTTTTAGAGACAGGGTTTCATTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGAACATAGCTCACTGTAGCCTCAACCTCTGGGGGCTTGAGCAATCCTCCCACCTCAGCCTCCTGAGTATCTGGGACTACAGGCATGCACCACCACACCCAGCTAATTTTTCGTATTTTTTCTAGAGATAGGATCTCTGTGTTGCCCAGGCTGGTTTTGAACTCCTAGGCTCAAGCGATCCACCCACATTGGCCTCCCCAAGTGCTGGGATTACAGGCAAGGAGCCACTGCACCTGGCTGAAGCAAATGTTAATTACACGTTTCAATTATACAAATGCAAAGGGGAACTCTTAAAACTACTGCCAAAATTCACGACCCAATGTCAGCGCAGTCAGATCACTTGCCTGCATCTCAATGCCTCGCTCAAGTATCTCTTTTAAAACAACAGAATACTGTAATTTGTTAGTTGTCTAGAGTCTGACATAAATTTTTAGAGGAGAAAAACCAAATATAATATATTTATTTTGATTGTTTCCTGAGAGGATCAAGACTGGAAACCACTGCATCCTGGGGATCCCATGTTTTTAACTCTTGATGGGAAGACGATCCCACTGGGCGGAGACTGTACCGTGTACCCCGTGTTTGTGAATGAGGCCGCATATTACGAAAAGAAAGAAGCTTTTGCAAAGACAACTAAACTAACGCTCAATGCAAAAAGTATTCGCTGCTGTTTACATTAGAAATCACTTCCAGCTTACATCTTACACGGTGTCTTACAAATTCTGCTAGTCTGTAAGCTCCTTAAGAGTAGGGTTGTGCCTTATTCAACTGCATACATAGCTCCTAGCACAGTGCCTTATTCGGTAGGCATCTAAGCACATTTCTTAAATTAATTAATATATCTTTAAAGATATCATATTTTATGTATGTAGCTTATTCAAAGAAGTGTTTCCTATTTCTATATAGTTTATTATACATGATACTTGGGTAGCTCAACATTCTTAATAAACAGCCTTTGTATTCAGAATATAAAATTGAAATAGATATATATAAAGTTATTTGTTTTATTGTGCTTTGCCTTACTACACTTCACGGATACTGTACTTGTACTTTTTTTCCAAATTGAAGGTTTTTGGCAACCCTGTGTCTAGAAAGTCTAACAGTGCCATGTTTCCAACAGCATGTGCTCACTCCTTGTCTCTGTGTCACCCTTTGATAATATTTCAAGCTTTTTTATGATTTATTTATTATATCTGCTATGGTGATCTGTGATCAGTGGCCTTTGATGTTACTGTTGTTAAGTGTTTTGGGGCACCATGAATCGTGCCCATGTGAGACTGCGAACTTAGTGAATGTTGTGTGAGTTCTAACTGCTCTACTGACCGGCCATTTCCTTGTCTCTCTCCCTGTCCTCTGGCCTCCCTGTTCCTTGAGACACAATAATTAATAAGTCTACAGCAGACTCTGTGTGTTCAAGTGAAAGAAAGGGTCATACTTCTAGAAATTAAGCTTAGTAAGGAAGGCATGTCAAAAGCTGAGACAGGCTGAAAGCTAGGCCTCTTGCACTGGTTAGCCAAGTTGTGAATTCAAAGAAAAGGATCTTGAAGAAAATTAAAAATTCTACTCCAGTGCACACACACAAATGATAAGAAAGCAAAACAACCTTATTGCTGATATGGAGACAGTTTTAGTGGTCTGGATAGAAGATCAAACCAGCCACACATTAAGCCAAAGCATGACCCACAGCAAGGCCCTAACTCTCTTCAATTCTGTGAAGGCTGAGAGAGGTGAGGAAGCTGCAGGAAGCTGGGAGAGGTTGGTTCACAAGGTTTAAGGAAAGAAGACAGCTCTAAAACCTACAAGTGGAAAGCGAACCAGCAAGTTGCTGATGTGGAAGCTGTAGCAAGTTATCCAGAAGATGTAGCTAAAATCATTGACAAAGATGGCTACACTAAACAACGGATCTTCAGTGTAGTTGAAACAGCCTTCTATTGGAAGAAGATGCTATCTAGGACTTTCCTAGCTAGAGGGGAGAAATGAATGCCTAGCTTCAAAGCTTCAAAGGACAGCCTGACTCTCTTAAGAGCTAACACAGCTGGTGACTTTGGGTTAAAGCCAAAGCTCATTAACTGTTTCAAAAATCCTAAAACTCTTGTTTTTTGTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGAGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGCATTTTTTTAGTAGAGATGGGGTTTCACTCTGCTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCCAAAAATCGTAGGACTCTGAAGACTGATGCTAAACCTGCTGTGTCTGAGCTCTATAAATGGAACAACAAAGCCTCGCTGGCAGCACATCTGTTTGCGGCATGGTTTACTGTATATTTTAAGCCCACTGTTGAGACCTACTGCTTGGGAAAAAAAAAAATTCCTTTCAAAATACTACTGCTGATTGACAATACACCATGTTACCCAAGAGCTCTGCTGGAGATGTGCGAAGAGATTAGCATTGTT
GCTACTCGGGAGCCTGAGGCAGGAAAATTGCTTGAACTCGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGACAGAGCTGAGATTACGTCTAAAAAGAAAAAGAAAAAATGCTGATTTCTGAGTCCTCTTCCCAGGGGCTCTGATCTAATTCATCAGGGTGTAGACAGGGAATCAATTGAGTTCACCAGGTGATTTTCATGTGGCTCAGGTCTGGATAGCACTGCACAATGTCGGAATCTCCACAGGTGGGGCTAGCCAGACGTGTGTTGAAGAGGTTCCTTTAGTGATTCTGGGGCAAGTCTCTGCCTGAAAAACCACCGGTTCAGAGAAATAGTTCTCAGCCGAGCCACCCTGTAAATCATCTGGGGCCTAAATACAATAAACACAGAAAACAGTGAACTATAAATGGGTAGCATGAGGGATTCGAGGAGGTGGCTGAAAGAAGCACGTATCCTGATGGCATGGTTGCGGGTTATATGACTCCATGCTCTGCAAGTCAGAACTCATAGAACTGCACACAAAAATGAGCGAATTTCACTGTAGGTAAATTTAAAAATAAAATATAAAAATAATGATGCCTAGGCCCTCCTCTCAGATTCTGATTTGATTTATCTGAAATGGGCCAGCCCCTCTACCTGTATATATGTATTTAACATCCCAAGCGATCATAATGTGCCACCAGGATGGAGAAAACTGCGGTGATGCGGCACTTCCCAAACACTAATGTCGTGCACGTGAACGTCAAGGACCTGTTAACATGAAGATTTTGATTTGGTAGGTCTGCTGCGCATAATGAAATCCTGCTTTTCTAACAGGCTCCTGGGTGATGCGGATGCTGCTGGGAAATGTTAGACATGCAGAATCCCAGGCCCCCACCCCCAACCTATAGAATCAGAATCTTCATCTTAACAAAATCCCCAGATGATTTACAAGCACCTCAAAGTTTGAGAAGAACTGTTCTGGGGTTCCCGTGGTGTGACAGCCATGGTGCTTGAGGGCTCAAAGGTCCAAATCCCTGGTGCGGGACCCTTCAGATAACTCAGTTGTTACCCTAATGTAGGAGCACATTTGGAATACACCCACCTTGTCCCAGACTCTCCCCAGCCCAGCACCACCTTCTCTCACCAATCCCCGTCAGAATAGAATCTCCTTGTATGCAGGTACAACATGGCTCATTTTTATATTTCCCAACGGTAGAATGTCTTGCACACAGAAGACTCCTAATGGATATTTCCTAAATTTTGCTGAACAGAATTTAACTTGAGCTGGCAACAGGCAGACTATGCACTTAGGTAGACATGCATTTAGTTTTGCCTTTTAATATTATAAATCTCTTTGGCTACATTCAAGGTAAACCTGGTATTGAAGCAAACTCTTTTTTATTTTTTTTTAGAGACAGGGTTTCATTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGAACATAGCTCACTGTAGCCTCAACCTCTGGGGGCTTGAGCAATCCTCCCACCTCAGCCTCCTGAGTATCTGGGACTACAGGCATGCACCACCACACCCAGCTAATTTTTCGTATTTTTTCTAGAGATAGGATCTCTGTGTTGCCCAGGCTGGTTTTGAACTCCTAGGCTCAAGCGATCCACCCACATTGGCCTCCCCAAGTGCTGGGATTACAGGCAAGGAGCCACTGCACCTGGCTGAAGCAAATGTTAATTACACGTTTCAATTATACAAATGCAAAGGGGAACTCTTAAAACTACTGCCAAAATTCACGACCCAATGTCAGCGCAGTCAGATCACTTGCCTGCATCTCAATGCCTCGCTCAAGTATCTCTTTTAAAACAACAGAATACTGTAATTTGTTAGTTGTCTAGAGTCTGACATAAATTTTTAGAGGAGAAAAACCAAATATAATATATTTATTTTGATTGTTTCCTGAGAGGATCAAGACTGGAAACCACTGCATCCTGGGGATCCCATGTTTTTAACTCTTGATGGGAAGACGATCCCACTGGGCGGAGACTGTACCGTGTACCCCGTGTTTGTGAATGCGGCCGCATATTACGAAAAGAAAGAAGCTTTTGCAAAGACAACTAAACTAACGCTCAATGCAAAAAGTATTCGCTGCTGTTTACATTAGAAATCACTTCCAGCTTACATCTTACACGGTGTCTTACAAATTCTGCTAGTCTGTAAGCTCCTTAAGAGTAGGGTTGTGCCTTATTCAACTGCATACATAGCTCCTAGCACAGTGCCTTATTCGGTAGGCATCTAAGCACATTTCTTAAATTAATTAATATATCTTTAAAGATATCATATTTTATGTATGTAGCTTATTCAAAGAAGTGTTTCCTATTTCTATATAGTTTATTATACATGATACTTGGGTAGCTCAACATTCTTAATAAACAGCCTTTGTATTCAGAATATAAAATTGAAATAGATATATATAAAGTTATTTGTTTTATTGTGCTTTGCCTTACTACACTTCACGGATACTGTACTTGTACTTTTTTTCCAAATTGAAGGTTTTTGGCAACCCTGTGTCTAGAAAGTCTAACAGTGCCATGTTTCCAACAGCATGTGCTCACTCCTTGTCTCTGTGTCACCCTTTGATAATATTTCAAGCTTTTTTATGATTTATTTATTATATCTGCTATGGTGATCTGTGATCAGTGGCCTTTGATGTTACTGTTGTTAAGTGTTTTGGGGCACCATGAATCGTGCCCATGTGAGACTGCGAACTTAGTGAATGTTGTGTGAGTTCTAACTGCTCTACTGACCGGCCATTTCCTTGTCTCTCTCCCTGTCCTCTGGCCTCCCTGTTCCTTGAGACACAATAATTAATAAGTCTACAGCAGACTCTGTGTGTTCAAGTGAAAGAAAGGGTCATACTTCTAGAAATTAAGCTTAGTAAGGAAGGCATGTCAAAAGCTGAGACAGGCTGAAAGCTAGGCCTCTTGCACTGGTTAGCCAAGTTGTGAATTCAAAGAAAAGGATCTTGAAGAAAATTAAAAATTCTACTCCAGTGCACACACACAAATGATAAGAAAGCAAAACAACCTTATTGCTGATATGGAGACAGTTTTAGTGGTCTGGATAGAAGATCAAACCAGCCACACATTAAGCCAAAGCATGACCCACAGCAAGGCCCTAACTCTCTTCAATTCTGTGAAGGCTGAGAGAGGTGAGGAAGCTGCAGGAAGCTGGGAGAGGTTGGTTCACAAGGTTTAAGGAAAGAAGACAGCTCTAAAACCTACAAGTGGAAAGCGAACCAGCAAGTTGCTGATGTGGAAGCTGTAGCAAGTTATCCAGAAGATGTAGCTAAAATCATTGACAAAGATGGCTACACTAAACAACGGATCTTCAGTGTAGTTGAAACAGCCTTCTATTGGAAGAAGATGCTATCTAGGACTTTCCTAGCTAGAGGGGAGAAATGAATGCCTAGCTTCAAAGCTTCAAAGGACAGCCTGACTCTCTTAAGAGCTAACACAGCTGGTGACTTTGGGTTAAAGCCAAAGCTCATTAACTGTTTCAAAAATCCTAAAACTCTTGTTTTTTGTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGAGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGCATTTTTTTAGTAGAGATGGGGTTTCACTCTGCTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCCAAAAATCGTAGGACTCTGAAGACTGATGCTAAACCTGCTGTGTCTGAGCTCTATAAATGGAACAACAAAGCCTCGCTGGCAGCACATCTGTTTGCGGCATGGTTTACTGTATATTTTAAGCCCACTGTTGAGACCTACTGCTTGGGAAAAAAAAAAATTCCTTTCAAAATACTACTGCTGATTGACAATACACCATGTTACCCAAGAGCTCTGCTGGAGATGTGCGAAGAGATTAGCATTGTT
Task1_train_23216
Assess the clinical impact of this variant on gene ASPA, SPATA22 (aspartoacylase| spermatogenesis associated 22), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Spongy degeneration of central nervous system
GCTACTCGGGAGCCTGAGGCAGGAAAATTGCTTGAACTCGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGACAGAGCTGAGATTACGTCTAAAAAGAAAAAGAAAAAATGCTGATTTCTGAGTCCTCTTCCCAGGGGCTCTGATCTAATTCATCAGGGTGTAGACAGGGAATCAATTGAGTTCACCAGGTGATTTTCATGTGGCTCAGGTCTGGATAGCACTGCACAATGTCGGAATCTCCACAGGTGGGGCTAGCCAGACGTGTGTTGAAGAGGTTCCTTTAGTGATTCTGGGGCAAGTCTCTGCCTGAAAAACCACCGGTTCAGAGAAATAGTTCTCAGCCGAGCCACCCTGTAAATCATCTGGGGCCTAAATACAATAAACACAGAAAACAGTGAACTATAAATGGGTAGCATGAGGGATTCGAGGAGGTGGCTGAAAGAAGCACGTATCCTGATGGCATGGTTGCGGGTTATATGACTCCATGCTCTGCAAGTCAGAACTCATAGAACTGCACACAAAAATGAGCGAATTTCACTGTAGGTAAATTTAAAAATAAAATATAAAAATAATGATGCCTAGGCCCTCCTCTCAGATTCTGATTTGATTTATCTGAAATGGGCCAGCCCCTCTACCTGTATATATGTATTTAACATCCCAAGCGATCATAATGTGCCACCAGGATGGAGAAAACTGCGGTGATGCGGCACTTCCCAAACACTAATGTCGTGCACGTGAACGTCAAGGACCTGTTAACATGAAGATTTTGATTTGGTAGGTCTGCTGCGCATAATGAAATCCTGCTTTTCTAACAGGCTCCTGGGTGATGCGGATGCTGCTGGGAAATGTTAGACATGCAGAATCCCAGGCCCCCACCCCCAACCTATAGAATCAGAATCTTCATCTTAACAAAATCCCCAGATGATTTACAAGCACCTCAAAGTTTGAGAAGAACTGTTCTGGGGTTCCCGTGGTGTGACAGCCATGGTGCTTGAGGGCTCAAAGGTCCAAATCCCTGGTGCGGGACCCTTCAGATAACTCAGTTGTTACCCTAATGTAGGAGCACATTTGGAATACACCCACCTTGTCCCAGACTCTCCCCAGCCCAGCACCACCTTCTCTCACCAATCCCCGTCAGAATAGAATCTCCTTGTATGCAGGTACAACATGGCTCATTTTTATATTTCCCAACGGTAGAATGTCTTGCACACAGAAGACTCCTAATGGATATTTCCTAAATTTTGCTGAACAGAATTTAACTTGAGCTGGCAACAGGCAGACTATGCACTTAGGTAGACATGCATTTAGTTTTGCCTTTTAATATTATAAATCTCTTTGGCTACATTCAAGGTAAACCTGGTATTGAAGCAAACTCTTTTTTATTTTTTTTTAGAGACAGGGTTTCATTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGAACATAGCTCACTGTAGCCTCAACCTCTGGGGGCTTGAGCAATCCTCCCACCTCAGCCTCCTGAGTATCTGGGACTACAGGCATGCACCACCACACCCAGCTAATTTTTCGTATTTTTTCTAGAGATAGGATCTCTGTGTTGCCCAGGCTGGTTTTGAACTCCTAGGCTCAAGCGATCCACCCACATTGGCCTCCCCAAGTGCTGGGATTACAGGCAAGGAGCCACTGCACCTGGCTGAAGCAAATGTTAATTACACGTTTCAATTATACAAATGCAAAGGGGAACTCTTAAAACTACTGCCAAAATTCACGACCCAATGTCAGCGCAGTCAGATCACTTGCCTGCATCTCAATGCCTCGCTCAAGTATCTCTTTTAAAACAACAGAATACTGTAATTTGTTAGTTGTCTAGAGTCTGACATAAATTTTTAGAGGAGAAAAACCAAATATAATATATTTATTTTGATTGTTTCCTGAGAGGATCAAGACTGGAAACCACTGCATCCTGGGGATCCCATGTTTTTAACTCTTGATGGGAAGACGATCCCACTGGGCGGAGACTGTACCGTGTACCCCGTGTTTGTGAATGAGGCCGCATATTACGAAAAGAAAGAAGCTTTTGCAAAGACAACTAAACTAACGCTCAATGCAAAAAGTATTCGCTGCTGTTTACATTAGAAATCACTTCCAGCTTACATCTTACACGGTGTCTTACAAATTCTGCTAGTCTGTAAGCTCCTTAAGAGTAGGGTTGTGCCTTATTCAACTGCATACATAGCTCCTAGCACAGTGCCTTATTCGGTAGGCATCTAAGCACATTTCTTAAATTAATTAATATATCTTTAAAGATATCATATTTTATGTATGTAGCTTATTCAAAGAAGTGTTTCCTATTTCTATATAGTTTATTATACATGATACTTGGGTAGCTCAACATTCTTAATAAACAGCCTTTGTATTCAGAATATAAAATTGAAATAGATATATATAAAGTTATTTGTTTTATTGTGCTTTGCCTTACTACACTTCACGGATACTGTACTTGTACTTTTTTTCCAAATTGAAGGTTTTTGGCAACCCTGTGTCTAGAAAGTCTAACAGTGCCATGTTTCCAACAGCATGTGCTCACTCCTTGTCTCTGTGTCACCCTTTGATAATATTTCAAGCTTTTTTATGATTTATTTATTATATCTGCTATGGTGATCTGTGATCAGTGGCCTTTGATGTTACTGTTGTTAAGTGTTTTGGGGCACCATGAATCGTGCCCATGTGAGACTGCGAACTTAGTGAATGTTGTGTGAGTTCTAACTGCTCTACTGACCGGCCATTTCCTTGTCTCTCTCCCTGTCCTCTGGCCTCCCTGTTCCTTGAGACACAATAATTAATAAGTCTACAGCAGACTCTGTGTGTTCAAGTGAAAGAAAGGGTCATACTTCTAGAAATTAAGCTTAGTAAGGAAGGCATGTCAAAAGCTGAGACAGGCTGAAAGCTAGGCCTCTTGCACTGGTTAGCCAAGTTGTGAATTCAAAGAAAAGGATCTTGAAGAAAATTAAAAATTCTACTCCAGTGCACACACACAAATGATAAGAAAGCAAAACAACCTTATTGCTGATATGGAGACAGTTTTAGTGGTCTGGATAGAAGATCAAACCAGCCACACATTAAGCCAAAGCATGACCCACAGCAAGGCCCTAACTCTCTTCAATTCTGTGAAGGCTGAGAGAGGTGAGGAAGCTGCAGGAAGCTGGGAGAGGTTGGTTCACAAGGTTTAAGGAAAGAAGACAGCTCTAAAACCTACAAGTGGAAAGCGAACCAGCAAGTTGCTGATGTGGAAGCTGTAGCAAGTTATCCAGAAGATGTAGCTAAAATCATTGACAAAGATGGCTACACTAAACAACGGATCTTCAGTGTAGTTGAAACAGCCTTCTATTGGAAGAAGATGCTATCTAGGACTTTCCTAGCTAGAGGGGAGAAATGAATGCCTAGCTTCAAAGCTTCAAAGGACAGCCTGACTCTCTTAAGAGCTAACACAGCTGGTGACTTTGGGTTAAAGCCAAAGCTCATTAACTGTTTCAAAAATCCTAAAACTCTTGTTTTTTGTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGAGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGCATTTTTTTAGTAGAGATGGGGTTTCACTCTGCTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCCAAAAATCGTAGGACTCTGAAGACTGATGCTAAACCTGCTGTGTCTGAGCTCTATAAATGGAACAACAAAGCCTCGCTGGCAGCACATCTGTTTGCGGCATGGTTTACTGTATATTTTAAGCCCACTGTTGAGACCTACTGCTTGGGAAAAAAAAAAATTCCTTTCAAAATACTACTGCTGATTGACAATACACCATGTTACCCAAGAGCTCTGCTGGAGATGTGCGAAGAGATTAGCATTGTT
GCTACTCGGGAGCCTGAGGCAGGAAAATTGCTTGAACTCGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGACAGAGCTGAGATTACGTCTAAAAAGAAAAAGAAAAAATGCTGATTTCTGAGTCCTCTTCCCAGGGGCTCTGATCTAATTCATCAGGGTGTAGACAGGGAATCAATTGAGTTCACCAGGTGATTTTCATGTGGCTCAGGTCTGGATAGCACTGCACAATGTCGGAATCTCCACAGGTGGGGCTAGCCAGACGTGTGTTGAAGAGGTTCCTTTAGTGATTCTGGGGCAAGTCTCTGCCTGAAAAACCACCGGTTCAGAGAAATAGTTCTCAGCCGAGCCACCCTGTAAATCATCTGGGGCCTAAATACAATAAACACAGAAAACAGTGAACTATAAATGGGTAGCATGAGGGATTCGAGGAGGTGGCTGAAAGAAGCACGTATCCTGATGGCATGGTTGCGGGTTATATGACTCCATGCTCTGCAAGTCAGAACTCATAGAACTGCACACAAAAATGAGCGAATTTCACTGTAGGTAAATTTAAAAATAAAATATAAAAATAATGATGCCTAGGCCCTCCTCTCAGATTCTGATTTGATTTATCTGAAATGGGCCAGCCCCTCTACCTGTATATATGTATTTAACATCCCAAGCGATCATAATGTGCCACCAGGATGGAGAAAACTGCGGTGATGCGGCACTTCCCAAACACTAATGTCGTGCACGTGAACGTCAAGGACCTGTTAACATGAAGATTTTGATTTGGTAGGTCTGCTGCGCATAATGAAATCCTGCTTTTCTAACAGGCTCCTGGGTGATGCGGATGCTGCTGGGAAATGTTAGACATGCAGAATCCCAGGCCCCCACCCCCAACCTATAGAATCAGAATCTTCATCTTAACAAAATCCCCAGATGATTTACAAGCACCTCAAAGTTTGAGAAGAACTGTTCTGGGGTTCCCGTGGTGTGACAGCCATGGTGCTTGAGGGCTCAAAGGTCCAAATCCCTGGTGCGGGACCCTTCAGATAACTCAGTTGTTACCCTAATGTAGGAGCACATTTGGAATACACCCACCTTGTCCCAGACTCTCCCCAGCCCAGCACCACCTTCTCTCACCAATCCCCGTCAGAATAGAATCTCCTTGTATGCAGGTACAACATGGCTCATTTTTATATTTCCCAACGGTAGAATGTCTTGCACACAGAAGACTCCTAATGGATATTTCCTAAATTTTGCTGAACAGAATTTAACTTGAGCTGGCAACAGGCAGACTATGCACTTAGGTAGACATGCATTTAGTTTTGCCTTTTAATATTATAAATCTCTTTGGCTACATTCAAGGTAAACCTGGTATTGAAGCAAACTCTTTTTTATTTTTTTTTAGAGACAGGGTTTCATTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGAACATAGCTCACTGTAGCCTCAACCTCTGGGGGCTTGAGCAATCCTCCCACCTCAGCCTCCTGAGTATCTGGGACTACAGGCATGCACCACCACACCCAGCTAATTTTTCGTATTTTTTCTAGAGATAGGATCTCTGTGTTGCCCAGGCTGGTTTTGAACTCCTAGGCTCAAGCGATCCACCCACATTGGCCTCCCCAAGTGCTGGGATTACAGGCAAGGAGCCACTGCACCTGGCTGAAGCAAATGTTAATTACACGTTTCAATTATACAAATGCAAAGGGGAACTCTTAAAACTACTGCCAAAATTCACGACCCAATGTCAGCGCAGTCAGATCACTTGCCTGCATCTCAATGCCTCGCTCAAGTATCTCTTTTAAAACAACAGAATACTGTAATTTGTTAGTTGTCTAGAGTCTGACATAAATTTTTAGAGGAGAAAAACCAAATATAATATATTTATTTTGATTGTTTCCTGAGAGGATCAAGACTGGAAACCACTGCATCCTGGGGATCCCATGTTTTTAACTCTTGATGGGAAGACGATCCCACTGGGCGGAGACTGTACCGTGTACCCCGTGTTTGTGAATGCGGCCGCATATTACGAAAAGAAAGAAGCTTTTGCAAAGACAACTAAACTAACGCTCAATGCAAAAAGTATTCGCTGCTGTTTACATTAGAAATCACTTCCAGCTTACATCTTACACGGTGTCTTACAAATTCTGCTAGTCTGTAAGCTCCTTAAGAGTAGGGTTGTGCCTTATTCAACTGCATACATAGCTCCTAGCACAGTGCCTTATTCGGTAGGCATCTAAGCACATTTCTTAAATTAATTAATATATCTTTAAAGATATCATATTTTATGTATGTAGCTTATTCAAAGAAGTGTTTCCTATTTCTATATAGTTTATTATACATGATACTTGGGTAGCTCAACATTCTTAATAAACAGCCTTTGTATTCAGAATATAAAATTGAAATAGATATATATAAAGTTATTTGTTTTATTGTGCTTTGCCTTACTACACTTCACGGATACTGTACTTGTACTTTTTTTCCAAATTGAAGGTTTTTGGCAACCCTGTGTCTAGAAAGTCTAACAGTGCCATGTTTCCAACAGCATGTGCTCACTCCTTGTCTCTGTGTCACCCTTTGATAATATTTCAAGCTTTTTTATGATTTATTTATTATATCTGCTATGGTGATCTGTGATCAGTGGCCTTTGATGTTACTGTTGTTAAGTGTTTTGGGGCACCATGAATCGTGCCCATGTGAGACTGCGAACTTAGTGAATGTTGTGTGAGTTCTAACTGCTCTACTGACCGGCCATTTCCTTGTCTCTCTCCCTGTCCTCTGGCCTCCCTGTTCCTTGAGACACAATAATTAATAAGTCTACAGCAGACTCTGTGTGTTCAAGTGAAAGAAAGGGTCATACTTCTAGAAATTAAGCTTAGTAAGGAAGGCATGTCAAAAGCTGAGACAGGCTGAAAGCTAGGCCTCTTGCACTGGTTAGCCAAGTTGTGAATTCAAAGAAAAGGATCTTGAAGAAAATTAAAAATTCTACTCCAGTGCACACACACAAATGATAAGAAAGCAAAACAACCTTATTGCTGATATGGAGACAGTTTTAGTGGTCTGGATAGAAGATCAAACCAGCCACACATTAAGCCAAAGCATGACCCACAGCAAGGCCCTAACTCTCTTCAATTCTGTGAAGGCTGAGAGAGGTGAGGAAGCTGCAGGAAGCTGGGAGAGGTTGGTTCACAAGGTTTAAGGAAAGAAGACAGCTCTAAAACCTACAAGTGGAAAGCGAACCAGCAAGTTGCTGATGTGGAAGCTGTAGCAAGTTATCCAGAAGATGTAGCTAAAATCATTGACAAAGATGGCTACACTAAACAACGGATCTTCAGTGTAGTTGAAACAGCCTTCTATTGGAAGAAGATGCTATCTAGGACTTTCCTAGCTAGAGGGGAGAAATGAATGCCTAGCTTCAAAGCTTCAAAGGACAGCCTGACTCTCTTAAGAGCTAACACAGCTGGTGACTTTGGGTTAAAGCCAAAGCTCATTAACTGTTTCAAAAATCCTAAAACTCTTGTTTTTTGTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGAGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGCATTTTTTTAGTAGAGATGGGGTTTCACTCTGCTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCCAAAAATCGTAGGACTCTGAAGACTGATGCTAAACCTGCTGTGTCTGAGCTCTATAAATGGAACAACAAAGCCTCGCTGGCAGCACATCTGTTTGCGGCATGGTTTACTGTATATTTTAAGCCCACTGTTGAGACCTACTGCTTGGGAAAAAAAAAAATTCCTTTCAAAATACTACTGCTGATTGACAATACACCATGTTACCCAAGAGCTCTGCTGGAGATGTGCGAAGAGATTAGCATTGTT
Task1_train_23217
The gene ASPA, SPATA22 (aspartoacylase| spermatogenesis associated 22) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Inborn genetic diseases
GCTGAGATTGTGCCACTGCACTCCAGCCTGGACAGAGCTGAGATTACGTCTAAAAAGAAAAAGAAAAAATGCTGATTTCTGAGTCCTCTTCCCAGGGGCTCTGATCTAATTCATCAGGGTGTAGACAGGGAATCAATTGAGTTCACCAGGTGATTTTCATGTGGCTCAGGTCTGGATAGCACTGCACAATGTCGGAATCTCCACAGGTGGGGCTAGCCAGACGTGTGTTGAAGAGGTTCCTTTAGTGATTCTGGGGCAAGTCTCTGCCTGAAAAACCACCGGTTCAGAGAAATAGTTCTCAGCCGAGCCACCCTGTAAATCATCTGGGGCCTAAATACAATAAACACAGAAAACAGTGAACTATAAATGGGTAGCATGAGGGATTCGAGGAGGTGGCTGAAAGAAGCACGTATCCTGATGGCATGGTTGCGGGTTATATGACTCCATGCTCTGCAAGTCAGAACTCATAGAACTGCACACAAAAATGAGCGAATTTCACTGTAGGTAAATTTAAAAATAAAATATAAAAATAATGATGCCTAGGCCCTCCTCTCAGATTCTGATTTGATTTATCTGAAATGGGCCAGCCCCTCTACCTGTATATATGTATTTAACATCCCAAGCGATCATAATGTGCCACCAGGATGGAGAAAACTGCGGTGATGCGGCACTTCCCAAACACTAATGTCGTGCACGTGAACGTCAAGGACCTGTTAACATGAAGATTTTGATTTGGTAGGTCTGCTGCGCATAATGAAATCCTGCTTTTCTAACAGGCTCCTGGGTGATGCGGATGCTGCTGGGAAATGTTAGACATGCAGAATCCCAGGCCCCCACCCCCAACCTATAGAATCAGAATCTTCATCTTAACAAAATCCCCAGATGATTTACAAGCACCTCAAAGTTTGAGAAGAACTGTTCTGGGGTTCCCGTGGTGTGACAGCCATGGTGCTTGAGGGCTCAAAGGTCCAAATCCCTGGTGCGGGACCCTTCAGATAACTCAGTTGTTACCCTAATGTAGGAGCACATTTGGAATACACCCACCTTGTCCCAGACTCTCCCCAGCCCAGCACCACCTTCTCTCACCAATCCCCGTCAGAATAGAATCTCCTTGTATGCAGGTACAACATGGCTCATTTTTATATTTCCCAACGGTAGAATGTCTTGCACACAGAAGACTCCTAATGGATATTTCCTAAATTTTGCTGAACAGAATTTAACTTGAGCTGGCAACAGGCAGACTATGCACTTAGGTAGACATGCATTTAGTTTTGCCTTTTAATATTATAAATCTCTTTGGCTACATTCAAGGTAAACCTGGTATTGAAGCAAACTCTTTTTTATTTTTTTTTAGAGACAGGGTTTCATTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGAACATAGCTCACTGTAGCCTCAACCTCTGGGGGCTTGAGCAATCCTCCCACCTCAGCCTCCTGAGTATCTGGGACTACAGGCATGCACCACCACACCCAGCTAATTTTTCGTATTTTTTCTAGAGATAGGATCTCTGTGTTGCCCAGGCTGGTTTTGAACTCCTAGGCTCAAGCGATCCACCCACATTGGCCTCCCCAAGTGCTGGGATTACAGGCAAGGAGCCACTGCACCTGGCTGAAGCAAATGTTAATTACACGTTTCAATTATACAAATGCAAAGGGGAACTCTTAAAACTACTGCCAAAATTCACGACCCAATGTCAGCGCAGTCAGATCACTTGCCTGCATCTCAATGCCTCGCTCAAGTATCTCTTTTAAAACAACAGAATACTGTAATTTGTTAGTTGTCTAGAGTCTGACATAAATTTTTAGAGGAGAAAAACCAAATATAATATATTTATTTTGATTGTTTCCTGAGAGGATCAAGACTGGAAACCACTGCATCCTGGGGATCCCATGTTTTTAACTCTTGATGGGAAGACGATCCCACTGGGCGGAGACTGTACCGTGTACCCCGTGTTTGTGAATGAGGCCGCATATTACGAAAAGAAAGAAGCTTTTGCAAAGACAACTAAACTAACGCTCAATGCAAAAAGTATTCGCTGCTGTTTACATTAGAAATCACTTCCAGCTTACATCTTACACGGTGTCTTACAAATTCTGCTAGTCTGTAAGCTCCTTAAGAGTAGGGTTGTGCCTTATTCAACTGCATACATAGCTCCTAGCACAGTGCCTTATTCGGTAGGCATCTAAGCACATTTCTTAAATTAATTAATATATCTTTAAAGATATCATATTTTATGTATGTAGCTTATTCAAAGAAGTGTTTCCTATTTCTATATAGTTTATTATACATGATACTTGGGTAGCTCAACATTCTTAATAAACAGCCTTTGTATTCAGAATATAAAATTGAAATAGATATATATAAAGTTATTTGTTTTATTGTGCTTTGCCTTACTACACTTCACGGATACTGTACTTGTACTTTTTTTCCAAATTGAAGGTTTTTGGCAACCCTGTGTCTAGAAAGTCTAACAGTGCCATGTTTCCAACAGCATGTGCTCACTCCTTGTCTCTGTGTCACCCTTTGATAATATTTCAAGCTTTTTTATGATTTATTTATTATATCTGCTATGGTGATCTGTGATCAGTGGCCTTTGATGTTACTGTTGTTAAGTGTTTTGGGGCACCATGAATCGTGCCCATGTGAGACTGCGAACTTAGTGAATGTTGTGTGAGTTCTAACTGCTCTACTGACCGGCCATTTCCTTGTCTCTCTCCCTGTCCTCTGGCCTCCCTGTTCCTTGAGACACAATAATTAATAAGTCTACAGCAGACTCTGTGTGTTCAAGTGAAAGAAAGGGTCATACTTCTAGAAATTAAGCTTAGTAAGGAAGGCATGTCAAAAGCTGAGACAGGCTGAAAGCTAGGCCTCTTGCACTGGTTAGCCAAGTTGTGAATTCAAAGAAAAGGATCTTGAAGAAAATTAAAAATTCTACTCCAGTGCACACACACAAATGATAAGAAAGCAAAACAACCTTATTGCTGATATGGAGACAGTTTTAGTGGTCTGGATAGAAGATCAAACCAGCCACACATTAAGCCAAAGCATGACCCACAGCAAGGCCCTAACTCTCTTCAATTCTGTGAAGGCTGAGAGAGGTGAGGAAGCTGCAGGAAGCTGGGAGAGGTTGGTTCACAAGGTTTAAGGAAAGAAGACAGCTCTAAAACCTACAAGTGGAAAGCGAACCAGCAAGTTGCTGATGTGGAAGCTGTAGCAAGTTATCCAGAAGATGTAGCTAAAATCATTGACAAAGATGGCTACACTAAACAACGGATCTTCAGTGTAGTTGAAACAGCCTTCTATTGGAAGAAGATGCTATCTAGGACTTTCCTAGCTAGAGGGGAGAAATGAATGCCTAGCTTCAAAGCTTCAAAGGACAGCCTGACTCTCTTAAGAGCTAACACAGCTGGTGACTTTGGGTTAAAGCCAAAGCTCATTAACTGTTTCAAAAATCCTAAAACTCTTGTTTTTTGTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGAGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGCATTTTTTTAGTAGAGATGGGGTTTCACTCTGCTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCCAAAAATCGTAGGACTCTGAAGACTGATGCTAAACCTGCTGTGTCTGAGCTCTATAAATGGAACAACAAAGCCTCGCTGGCAGCACATCTGTTTGCGGCATGGTTTACTGTATATTTTAAGCCCACTGTTGAGACCTACTGCTTGGGAAAAAAAAAAATTCCTTTCAAAATACTACTGCTGATTGACAATACACCATGTTACCCAAGAGCTCTGCTGGAGATGTGCGAAGAGATTAGCATTGTTTTCGCGCCTGCTACCACGACATCCAGCCGAAGCCCATGGATCAAGGCGTCATTGTGACTT
GCTGAGATTGTGCCACTGCACTCCAGCCTGGACAGAGCTGAGATTACGTCTAAAAAGAAAAAGAAAAAATGCTGATTTCTGAGTCCTCTTCCCAGGGGCTCTGATCTAATTCATCAGGGTGTAGACAGGGAATCAATTGAGTTCACCAGGTGATTTTCATGTGGCTCAGGTCTGGATAGCACTGCACAATGTCGGAATCTCCACAGGTGGGGCTAGCCAGACGTGTGTTGAAGAGGTTCCTTTAGTGATTCTGGGGCAAGTCTCTGCCTGAAAAACCACCGGTTCAGAGAAATAGTTCTCAGCCGAGCCACCCTGTAAATCATCTGGGGCCTAAATACAATAAACACAGAAAACAGTGAACTATAAATGGGTAGCATGAGGGATTCGAGGAGGTGGCTGAAAGAAGCACGTATCCTGATGGCATGGTTGCGGGTTATATGACTCCATGCTCTGCAAGTCAGAACTCATAGAACTGCACACAAAAATGAGCGAATTTCACTGTAGGTAAATTTAAAAATAAAATATAAAAATAATGATGCCTAGGCCCTCCTCTCAGATTCTGATTTGATTTATCTGAAATGGGCCAGCCCCTCTACCTGTATATATGTATTTAACATCCCAAGCGATCATAATGTGCCACCAGGATGGAGAAAACTGCGGTGATGCGGCACTTCCCAAACACTAATGTCGTGCACGTGAACGTCAAGGACCTGTTAACATGAAGATTTTGATTTGGTAGGTCTGCTGCGCATAATGAAATCCTGCTTTTCTAACAGGCTCCTGGGTGATGCGGATGCTGCTGGGAAATGTTAGACATGCAGAATCCCAGGCCCCCACCCCCAACCTATAGAATCAGAATCTTCATCTTAACAAAATCCCCAGATGATTTACAAGCACCTCAAAGTTTGAGAAGAACTGTTCTGGGGTTCCCGTGGTGTGACAGCCATGGTGCTTGAGGGCTCAAAGGTCCAAATCCCTGGTGCGGGACCCTTCAGATAACTCAGTTGTTACCCTAATGTAGGAGCACATTTGGAATACACCCACCTTGTCCCAGACTCTCCCCAGCCCAGCACCACCTTCTCTCACCAATCCCCGTCAGAATAGAATCTCCTTGTATGCAGGTACAACATGGCTCATTTTTATATTTCCCAACGGTAGAATGTCTTGCACACAGAAGACTCCTAATGGATATTTCCTAAATTTTGCTGAACAGAATTTAACTTGAGCTGGCAACAGGCAGACTATGCACTTAGGTAGACATGCATTTAGTTTTGCCTTTTAATATTATAAATCTCTTTGGCTACATTCAAGGTAAACCTGGTATTGAAGCAAACTCTTTTTTATTTTTTTTTAGAGACAGGGTTTCATTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGAACATAGCTCACTGTAGCCTCAACCTCTGGGGGCTTGAGCAATCCTCCCACCTCAGCCTCCTGAGTATCTGGGACTACAGGCATGCACCACCACACCCAGCTAATTTTTCGTATTTTTTCTAGAGATAGGATCTCTGTGTTGCCCAGGCTGGTTTTGAACTCCTAGGCTCAAGCGATCCACCCACATTGGCCTCCCCAAGTGCTGGGATTACAGGCAAGGAGCCACTGCACCTGGCTGAAGCAAATGTTAATTACACGTTTCAATTATACAAATGCAAAGGGGAACTCTTAAAACTACTGCCAAAATTCACGACCCAATGTCAGCGCAGTCAGATCACTTGCCTGCATCTCAATGCCTCGCTCAAGTATCTCTTTTAAAACAACAGAATACTGTAATTTGTTAGTTGTCTAGAGTCTGACATAAATTTTTAGAGGAGAAAAACCAAATATAATATATTTATTTTGATTGTTTCCTGAGAGGATCAAGACTGGAAACCACTGCATCCTGGGGATCCCATGTTTTTAACTCTTGATGGGAAGACGATCCCACTGGGCGGAGACTGTACCGTGTACCCCGTGTTTGTGAATGAGGCCGCATATTACGAAAAGAAAGAAGCTTTTGCAAAGACAACTAAACTAACGCTCAATGAAAAAAGTATTCGCTGCTGTTTACATTAGAAATCACTTCCAGCTTACATCTTACACGGTGTCTTACAAATTCTGCTAGTCTGTAAGCTCCTTAAGAGTAGGGTTGTGCCTTATTCAACTGCATACATAGCTCCTAGCACAGTGCCTTATTCGGTAGGCATCTAAGCACATTTCTTAAATTAATTAATATATCTTTAAAGATATCATATTTTATGTATGTAGCTTATTCAAAGAAGTGTTTCCTATTTCTATATAGTTTATTATACATGATACTTGGGTAGCTCAACATTCTTAATAAACAGCCTTTGTATTCAGAATATAAAATTGAAATAGATATATATAAAGTTATTTGTTTTATTGTGCTTTGCCTTACTACACTTCACGGATACTGTACTTGTACTTTTTTTCCAAATTGAAGGTTTTTGGCAACCCTGTGTCTAGAAAGTCTAACAGTGCCATGTTTCCAACAGCATGTGCTCACTCCTTGTCTCTGTGTCACCCTTTGATAATATTTCAAGCTTTTTTATGATTTATTTATTATATCTGCTATGGTGATCTGTGATCAGTGGCCTTTGATGTTACTGTTGTTAAGTGTTTTGGGGCACCATGAATCGTGCCCATGTGAGACTGCGAACTTAGTGAATGTTGTGTGAGTTCTAACTGCTCTACTGACCGGCCATTTCCTTGTCTCTCTCCCTGTCCTCTGGCCTCCCTGTTCCTTGAGACACAATAATTAATAAGTCTACAGCAGACTCTGTGTGTTCAAGTGAAAGAAAGGGTCATACTTCTAGAAATTAAGCTTAGTAAGGAAGGCATGTCAAAAGCTGAGACAGGCTGAAAGCTAGGCCTCTTGCACTGGTTAGCCAAGTTGTGAATTCAAAGAAAAGGATCTTGAAGAAAATTAAAAATTCTACTCCAGTGCACACACACAAATGATAAGAAAGCAAAACAACCTTATTGCTGATATGGAGACAGTTTTAGTGGTCTGGATAGAAGATCAAACCAGCCACACATTAAGCCAAAGCATGACCCACAGCAAGGCCCTAACTCTCTTCAATTCTGTGAAGGCTGAGAGAGGTGAGGAAGCTGCAGGAAGCTGGGAGAGGTTGGTTCACAAGGTTTAAGGAAAGAAGACAGCTCTAAAACCTACAAGTGGAAAGCGAACCAGCAAGTTGCTGATGTGGAAGCTGTAGCAAGTTATCCAGAAGATGTAGCTAAAATCATTGACAAAGATGGCTACACTAAACAACGGATCTTCAGTGTAGTTGAAACAGCCTTCTATTGGAAGAAGATGCTATCTAGGACTTTCCTAGCTAGAGGGGAGAAATGAATGCCTAGCTTCAAAGCTTCAAAGGACAGCCTGACTCTCTTAAGAGCTAACACAGCTGGTGACTTTGGGTTAAAGCCAAAGCTCATTAACTGTTTCAAAAATCCTAAAACTCTTGTTTTTTGTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGAGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGCATTTTTTTAGTAGAGATGGGGTTTCACTCTGCTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCCAAAAATCGTAGGACTCTGAAGACTGATGCTAAACCTGCTGTGTCTGAGCTCTATAAATGGAACAACAAAGCCTCGCTGGCAGCACATCTGTTTGCGGCATGGTTTACTGTATATTTTAAGCCCACTGTTGAGACCTACTGCTTGGGAAAAAAAAAAATTCCTTTCAAAATACTACTGCTGATTGACAATACACCATGTTACCCAAGAGCTCTGCTGGAGATGTGCGAAGAGATTAGCATTGTTTTCGCGCCTGCTACCACGACATCCAGCCGAAGCCCATGGATCAAGGCGTCATTGTGACTT
Task1_train_23218
This alteration in ASPA, SPATA22 (aspartoacylase| spermatogenesis associated 22) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Spongy degeneration of central nervous system
GCTGAGATTGTGCCACTGCACTCCAGCCTGGACAGAGCTGAGATTACGTCTAAAAAGAAAAAGAAAAAATGCTGATTTCTGAGTCCTCTTCCCAGGGGCTCTGATCTAATTCATCAGGGTGTAGACAGGGAATCAATTGAGTTCACCAGGTGATTTTCATGTGGCTCAGGTCTGGATAGCACTGCACAATGTCGGAATCTCCACAGGTGGGGCTAGCCAGACGTGTGTTGAAGAGGTTCCTTTAGTGATTCTGGGGCAAGTCTCTGCCTGAAAAACCACCGGTTCAGAGAAATAGTTCTCAGCCGAGCCACCCTGTAAATCATCTGGGGCCTAAATACAATAAACACAGAAAACAGTGAACTATAAATGGGTAGCATGAGGGATTCGAGGAGGTGGCTGAAAGAAGCACGTATCCTGATGGCATGGTTGCGGGTTATATGACTCCATGCTCTGCAAGTCAGAACTCATAGAACTGCACACAAAAATGAGCGAATTTCACTGTAGGTAAATTTAAAAATAAAATATAAAAATAATGATGCCTAGGCCCTCCTCTCAGATTCTGATTTGATTTATCTGAAATGGGCCAGCCCCTCTACCTGTATATATGTATTTAACATCCCAAGCGATCATAATGTGCCACCAGGATGGAGAAAACTGCGGTGATGCGGCACTTCCCAAACACTAATGTCGTGCACGTGAACGTCAAGGACCTGTTAACATGAAGATTTTGATTTGGTAGGTCTGCTGCGCATAATGAAATCCTGCTTTTCTAACAGGCTCCTGGGTGATGCGGATGCTGCTGGGAAATGTTAGACATGCAGAATCCCAGGCCCCCACCCCCAACCTATAGAATCAGAATCTTCATCTTAACAAAATCCCCAGATGATTTACAAGCACCTCAAAGTTTGAGAAGAACTGTTCTGGGGTTCCCGTGGTGTGACAGCCATGGTGCTTGAGGGCTCAAAGGTCCAAATCCCTGGTGCGGGACCCTTCAGATAACTCAGTTGTTACCCTAATGTAGGAGCACATTTGGAATACACCCACCTTGTCCCAGACTCTCCCCAGCCCAGCACCACCTTCTCTCACCAATCCCCGTCAGAATAGAATCTCCTTGTATGCAGGTACAACATGGCTCATTTTTATATTTCCCAACGGTAGAATGTCTTGCACACAGAAGACTCCTAATGGATATTTCCTAAATTTTGCTGAACAGAATTTAACTTGAGCTGGCAACAGGCAGACTATGCACTTAGGTAGACATGCATTTAGTTTTGCCTTTTAATATTATAAATCTCTTTGGCTACATTCAAGGTAAACCTGGTATTGAAGCAAACTCTTTTTTATTTTTTTTTAGAGACAGGGTTTCATTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGAACATAGCTCACTGTAGCCTCAACCTCTGGGGGCTTGAGCAATCCTCCCACCTCAGCCTCCTGAGTATCTGGGACTACAGGCATGCACCACCACACCCAGCTAATTTTTCGTATTTTTTCTAGAGATAGGATCTCTGTGTTGCCCAGGCTGGTTTTGAACTCCTAGGCTCAAGCGATCCACCCACATTGGCCTCCCCAAGTGCTGGGATTACAGGCAAGGAGCCACTGCACCTGGCTGAAGCAAATGTTAATTACACGTTTCAATTATACAAATGCAAAGGGGAACTCTTAAAACTACTGCCAAAATTCACGACCCAATGTCAGCGCAGTCAGATCACTTGCCTGCATCTCAATGCCTCGCTCAAGTATCTCTTTTAAAACAACAGAATACTGTAATTTGTTAGTTGTCTAGAGTCTGACATAAATTTTTAGAGGAGAAAAACCAAATATAATATATTTATTTTGATTGTTTCCTGAGAGGATCAAGACTGGAAACCACTGCATCCTGGGGATCCCATGTTTTTAACTCTTGATGGGAAGACGATCCCACTGGGCGGAGACTGTACCGTGTACCCCGTGTTTGTGAATGAGGCCGCATATTACGAAAAGAAAGAAGCTTTTGCAAAGACAACTAAACTAACGCTCAATGCAAAAAGTATTCGCTGCTGTTTACATTAGAAATCACTTCCAGCTTACATCTTACACGGTGTCTTACAAATTCTGCTAGTCTGTAAGCTCCTTAAGAGTAGGGTTGTGCCTTATTCAACTGCATACATAGCTCCTAGCACAGTGCCTTATTCGGTAGGCATCTAAGCACATTTCTTAAATTAATTAATATATCTTTAAAGATATCATATTTTATGTATGTAGCTTATTCAAAGAAGTGTTTCCTATTTCTATATAGTTTATTATACATGATACTTGGGTAGCTCAACATTCTTAATAAACAGCCTTTGTATTCAGAATATAAAATTGAAATAGATATATATAAAGTTATTTGTTTTATTGTGCTTTGCCTTACTACACTTCACGGATACTGTACTTGTACTTTTTTTCCAAATTGAAGGTTTTTGGCAACCCTGTGTCTAGAAAGTCTAACAGTGCCATGTTTCCAACAGCATGTGCTCACTCCTTGTCTCTGTGTCACCCTTTGATAATATTTCAAGCTTTTTTATGATTTATTTATTATATCTGCTATGGTGATCTGTGATCAGTGGCCTTTGATGTTACTGTTGTTAAGTGTTTTGGGGCACCATGAATCGTGCCCATGTGAGACTGCGAACTTAGTGAATGTTGTGTGAGTTCTAACTGCTCTACTGACCGGCCATTTCCTTGTCTCTCTCCCTGTCCTCTGGCCTCCCTGTTCCTTGAGACACAATAATTAATAAGTCTACAGCAGACTCTGTGTGTTCAAGTGAAAGAAAGGGTCATACTTCTAGAAATTAAGCTTAGTAAGGAAGGCATGTCAAAAGCTGAGACAGGCTGAAAGCTAGGCCTCTTGCACTGGTTAGCCAAGTTGTGAATTCAAAGAAAAGGATCTTGAAGAAAATTAAAAATTCTACTCCAGTGCACACACACAAATGATAAGAAAGCAAAACAACCTTATTGCTGATATGGAGACAGTTTTAGTGGTCTGGATAGAAGATCAAACCAGCCACACATTAAGCCAAAGCATGACCCACAGCAAGGCCCTAACTCTCTTCAATTCTGTGAAGGCTGAGAGAGGTGAGGAAGCTGCAGGAAGCTGGGAGAGGTTGGTTCACAAGGTTTAAGGAAAGAAGACAGCTCTAAAACCTACAAGTGGAAAGCGAACCAGCAAGTTGCTGATGTGGAAGCTGTAGCAAGTTATCCAGAAGATGTAGCTAAAATCATTGACAAAGATGGCTACACTAAACAACGGATCTTCAGTGTAGTTGAAACAGCCTTCTATTGGAAGAAGATGCTATCTAGGACTTTCCTAGCTAGAGGGGAGAAATGAATGCCTAGCTTCAAAGCTTCAAAGGACAGCCTGACTCTCTTAAGAGCTAACACAGCTGGTGACTTTGGGTTAAAGCCAAAGCTCATTAACTGTTTCAAAAATCCTAAAACTCTTGTTTTTTGTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGAGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGCATTTTTTTAGTAGAGATGGGGTTTCACTCTGCTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCCAAAAATCGTAGGACTCTGAAGACTGATGCTAAACCTGCTGTGTCTGAGCTCTATAAATGGAACAACAAAGCCTCGCTGGCAGCACATCTGTTTGCGGCATGGTTTACTGTATATTTTAAGCCCACTGTTGAGACCTACTGCTTGGGAAAAAAAAAAATTCCTTTCAAAATACTACTGCTGATTGACAATACACCATGTTACCCAAGAGCTCTGCTGGAGATGTGCGAAGAGATTAGCATTGTTTTCGCGCCTGCTACCACGACATCCAGCCGAAGCCCATGGATCAAGGCGTCATTGTGACTT
GCTGAGATTGTGCCACTGCACTCCAGCCTGGACAGAGCTGAGATTACGTCTAAAAAGAAAAAGAAAAAATGCTGATTTCTGAGTCCTCTTCCCAGGGGCTCTGATCTAATTCATCAGGGTGTAGACAGGGAATCAATTGAGTTCACCAGGTGATTTTCATGTGGCTCAGGTCTGGATAGCACTGCACAATGTCGGAATCTCCACAGGTGGGGCTAGCCAGACGTGTGTTGAAGAGGTTCCTTTAGTGATTCTGGGGCAAGTCTCTGCCTGAAAAACCACCGGTTCAGAGAAATAGTTCTCAGCCGAGCCACCCTGTAAATCATCTGGGGCCTAAATACAATAAACACAGAAAACAGTGAACTATAAATGGGTAGCATGAGGGATTCGAGGAGGTGGCTGAAAGAAGCACGTATCCTGATGGCATGGTTGCGGGTTATATGACTCCATGCTCTGCAAGTCAGAACTCATAGAACTGCACACAAAAATGAGCGAATTTCACTGTAGGTAAATTTAAAAATAAAATATAAAAATAATGATGCCTAGGCCCTCCTCTCAGATTCTGATTTGATTTATCTGAAATGGGCCAGCCCCTCTACCTGTATATATGTATTTAACATCCCAAGCGATCATAATGTGCCACCAGGATGGAGAAAACTGCGGTGATGCGGCACTTCCCAAACACTAATGTCGTGCACGTGAACGTCAAGGACCTGTTAACATGAAGATTTTGATTTGGTAGGTCTGCTGCGCATAATGAAATCCTGCTTTTCTAACAGGCTCCTGGGTGATGCGGATGCTGCTGGGAAATGTTAGACATGCAGAATCCCAGGCCCCCACCCCCAACCTATAGAATCAGAATCTTCATCTTAACAAAATCCCCAGATGATTTACAAGCACCTCAAAGTTTGAGAAGAACTGTTCTGGGGTTCCCGTGGTGTGACAGCCATGGTGCTTGAGGGCTCAAAGGTCCAAATCCCTGGTGCGGGACCCTTCAGATAACTCAGTTGTTACCCTAATGTAGGAGCACATTTGGAATACACCCACCTTGTCCCAGACTCTCCCCAGCCCAGCACCACCTTCTCTCACCAATCCCCGTCAGAATAGAATCTCCTTGTATGCAGGTACAACATGGCTCATTTTTATATTTCCCAACGGTAGAATGTCTTGCACACAGAAGACTCCTAATGGATATTTCCTAAATTTTGCTGAACAGAATTTAACTTGAGCTGGCAACAGGCAGACTATGCACTTAGGTAGACATGCATTTAGTTTTGCCTTTTAATATTATAAATCTCTTTGGCTACATTCAAGGTAAACCTGGTATTGAAGCAAACTCTTTTTTATTTTTTTTTAGAGACAGGGTTTCATTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGAACATAGCTCACTGTAGCCTCAACCTCTGGGGGCTTGAGCAATCCTCCCACCTCAGCCTCCTGAGTATCTGGGACTACAGGCATGCACCACCACACCCAGCTAATTTTTCGTATTTTTTCTAGAGATAGGATCTCTGTGTTGCCCAGGCTGGTTTTGAACTCCTAGGCTCAAGCGATCCACCCACATTGGCCTCCCCAAGTGCTGGGATTACAGGCAAGGAGCCACTGCACCTGGCTGAAGCAAATGTTAATTACACGTTTCAATTATACAAATGCAAAGGGGAACTCTTAAAACTACTGCCAAAATTCACGACCCAATGTCAGCGCAGTCAGATCACTTGCCTGCATCTCAATGCCTCGCTCAAGTATCTCTTTTAAAACAACAGAATACTGTAATTTGTTAGTTGTCTAGAGTCTGACATAAATTTTTAGAGGAGAAAAACCAAATATAATATATTTATTTTGATTGTTTCCTGAGAGGATCAAGACTGGAAACCACTGCATCCTGGGGATCCCATGTTTTTAACTCTTGATGGGAAGACGATCCCACTGGGCGGAGACTGTACCGTGTACCCCGTGTTTGTGAATGAGGCCGCATATTACGAAAAGAAAGAAGCTTTTGCAAAGACAACTAAACTAACGCTCAATGAAAAAAGTATTCGCTGCTGTTTACATTAGAAATCACTTCCAGCTTACATCTTACACGGTGTCTTACAAATTCTGCTAGTCTGTAAGCTCCTTAAGAGTAGGGTTGTGCCTTATTCAACTGCATACATAGCTCCTAGCACAGTGCCTTATTCGGTAGGCATCTAAGCACATTTCTTAAATTAATTAATATATCTTTAAAGATATCATATTTTATGTATGTAGCTTATTCAAAGAAGTGTTTCCTATTTCTATATAGTTTATTATACATGATACTTGGGTAGCTCAACATTCTTAATAAACAGCCTTTGTATTCAGAATATAAAATTGAAATAGATATATATAAAGTTATTTGTTTTATTGTGCTTTGCCTTACTACACTTCACGGATACTGTACTTGTACTTTTTTTCCAAATTGAAGGTTTTTGGCAACCCTGTGTCTAGAAAGTCTAACAGTGCCATGTTTCCAACAGCATGTGCTCACTCCTTGTCTCTGTGTCACCCTTTGATAATATTTCAAGCTTTTTTATGATTTATTTATTATATCTGCTATGGTGATCTGTGATCAGTGGCCTTTGATGTTACTGTTGTTAAGTGTTTTGGGGCACCATGAATCGTGCCCATGTGAGACTGCGAACTTAGTGAATGTTGTGTGAGTTCTAACTGCTCTACTGACCGGCCATTTCCTTGTCTCTCTCCCTGTCCTCTGGCCTCCCTGTTCCTTGAGACACAATAATTAATAAGTCTACAGCAGACTCTGTGTGTTCAAGTGAAAGAAAGGGTCATACTTCTAGAAATTAAGCTTAGTAAGGAAGGCATGTCAAAAGCTGAGACAGGCTGAAAGCTAGGCCTCTTGCACTGGTTAGCCAAGTTGTGAATTCAAAGAAAAGGATCTTGAAGAAAATTAAAAATTCTACTCCAGTGCACACACACAAATGATAAGAAAGCAAAACAACCTTATTGCTGATATGGAGACAGTTTTAGTGGTCTGGATAGAAGATCAAACCAGCCACACATTAAGCCAAAGCATGACCCACAGCAAGGCCCTAACTCTCTTCAATTCTGTGAAGGCTGAGAGAGGTGAGGAAGCTGCAGGAAGCTGGGAGAGGTTGGTTCACAAGGTTTAAGGAAAGAAGACAGCTCTAAAACCTACAAGTGGAAAGCGAACCAGCAAGTTGCTGATGTGGAAGCTGTAGCAAGTTATCCAGAAGATGTAGCTAAAATCATTGACAAAGATGGCTACACTAAACAACGGATCTTCAGTGTAGTTGAAACAGCCTTCTATTGGAAGAAGATGCTATCTAGGACTTTCCTAGCTAGAGGGGAGAAATGAATGCCTAGCTTCAAAGCTTCAAAGGACAGCCTGACTCTCTTAAGAGCTAACACAGCTGGTGACTTTGGGTTAAAGCCAAAGCTCATTAACTGTTTCAAAAATCCTAAAACTCTTGTTTTTTGTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGAGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGCATTTTTTTAGTAGAGATGGGGTTTCACTCTGCTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCCAAAAATCGTAGGACTCTGAAGACTGATGCTAAACCTGCTGTGTCTGAGCTCTATAAATGGAACAACAAAGCCTCGCTGGCAGCACATCTGTTTGCGGCATGGTTTACTGTATATTTTAAGCCCACTGTTGAGACCTACTGCTTGGGAAAAAAAAAAATTCCTTTCAAAATACTACTGCTGATTGACAATACACCATGTTACCCAAGAGCTCTGCTGGAGATGTGCGAAGAGATTAGCATTGTTTTCGCGCCTGCTACCACGACATCCAGCCGAAGCCCATGGATCAAGGCGTCATTGTGACTT
Task1_train_23219
A variant was discovered on Chromosome 17, affecting ASPA, SPATA22 (aspartoacylase| spermatogenesis associated 22). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Canavan Disease, Familial Form
GCTGAGATTGTGCCACTGCACTCCAGCCTGGACAGAGCTGAGATTACGTCTAAAAAGAAAAAGAAAAAATGCTGATTTCTGAGTCCTCTTCCCAGGGGCTCTGATCTAATTCATCAGGGTGTAGACAGGGAATCAATTGAGTTCACCAGGTGATTTTCATGTGGCTCAGGTCTGGATAGCACTGCACAATGTCGGAATCTCCACAGGTGGGGCTAGCCAGACGTGTGTTGAAGAGGTTCCTTTAGTGATTCTGGGGCAAGTCTCTGCCTGAAAAACCACCGGTTCAGAGAAATAGTTCTCAGCCGAGCCACCCTGTAAATCATCTGGGGCCTAAATACAATAAACACAGAAAACAGTGAACTATAAATGGGTAGCATGAGGGATTCGAGGAGGTGGCTGAAAGAAGCACGTATCCTGATGGCATGGTTGCGGGTTATATGACTCCATGCTCTGCAAGTCAGAACTCATAGAACTGCACACAAAAATGAGCGAATTTCACTGTAGGTAAATTTAAAAATAAAATATAAAAATAATGATGCCTAGGCCCTCCTCTCAGATTCTGATTTGATTTATCTGAAATGGGCCAGCCCCTCTACCTGTATATATGTATTTAACATCCCAAGCGATCATAATGTGCCACCAGGATGGAGAAAACTGCGGTGATGCGGCACTTCCCAAACACTAATGTCGTGCACGTGAACGTCAAGGACCTGTTAACATGAAGATTTTGATTTGGTAGGTCTGCTGCGCATAATGAAATCCTGCTTTTCTAACAGGCTCCTGGGTGATGCGGATGCTGCTGGGAAATGTTAGACATGCAGAATCCCAGGCCCCCACCCCCAACCTATAGAATCAGAATCTTCATCTTAACAAAATCCCCAGATGATTTACAAGCACCTCAAAGTTTGAGAAGAACTGTTCTGGGGTTCCCGTGGTGTGACAGCCATGGTGCTTGAGGGCTCAAAGGTCCAAATCCCTGGTGCGGGACCCTTCAGATAACTCAGTTGTTACCCTAATGTAGGAGCACATTTGGAATACACCCACCTTGTCCCAGACTCTCCCCAGCCCAGCACCACCTTCTCTCACCAATCCCCGTCAGAATAGAATCTCCTTGTATGCAGGTACAACATGGCTCATTTTTATATTTCCCAACGGTAGAATGTCTTGCACACAGAAGACTCCTAATGGATATTTCCTAAATTTTGCTGAACAGAATTTAACTTGAGCTGGCAACAGGCAGACTATGCACTTAGGTAGACATGCATTTAGTTTTGCCTTTTAATATTATAAATCTCTTTGGCTACATTCAAGGTAAACCTGGTATTGAAGCAAACTCTTTTTTATTTTTTTTTAGAGACAGGGTTTCATTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGAACATAGCTCACTGTAGCCTCAACCTCTGGGGGCTTGAGCAATCCTCCCACCTCAGCCTCCTGAGTATCTGGGACTACAGGCATGCACCACCACACCCAGCTAATTTTTCGTATTTTTTCTAGAGATAGGATCTCTGTGTTGCCCAGGCTGGTTTTGAACTCCTAGGCTCAAGCGATCCACCCACATTGGCCTCCCCAAGTGCTGGGATTACAGGCAAGGAGCCACTGCACCTGGCTGAAGCAAATGTTAATTACACGTTTCAATTATACAAATGCAAAGGGGAACTCTTAAAACTACTGCCAAAATTCACGACCCAATGTCAGCGCAGTCAGATCACTTGCCTGCATCTCAATGCCTCGCTCAAGTATCTCTTTTAAAACAACAGAATACTGTAATTTGTTAGTTGTCTAGAGTCTGACATAAATTTTTAGAGGAGAAAAACCAAATATAATATATTTATTTTGATTGTTTCCTGAGAGGATCAAGACTGGAAACCACTGCATCCTGGGGATCCCATGTTTTTAACTCTTGATGGGAAGACGATCCCACTGGGCGGAGACTGTACCGTGTACCCCGTGTTTGTGAATGAGGCCGCATATTACGAAAAGAAAGAAGCTTTTGCAAAGACAACTAAACTAACGCTCAATGCAAAAAGTATTCGCTGCTGTTTACATTAGAAATCACTTCCAGCTTACATCTTACACGGTGTCTTACAAATTCTGCTAGTCTGTAAGCTCCTTAAGAGTAGGGTTGTGCCTTATTCAACTGCATACATAGCTCCTAGCACAGTGCCTTATTCGGTAGGCATCTAAGCACATTTCTTAAATTAATTAATATATCTTTAAAGATATCATATTTTATGTATGTAGCTTATTCAAAGAAGTGTTTCCTATTTCTATATAGTTTATTATACATGATACTTGGGTAGCTCAACATTCTTAATAAACAGCCTTTGTATTCAGAATATAAAATTGAAATAGATATATATAAAGTTATTTGTTTTATTGTGCTTTGCCTTACTACACTTCACGGATACTGTACTTGTACTTTTTTTCCAAATTGAAGGTTTTTGGCAACCCTGTGTCTAGAAAGTCTAACAGTGCCATGTTTCCAACAGCATGTGCTCACTCCTTGTCTCTGTGTCACCCTTTGATAATATTTCAAGCTTTTTTATGATTTATTTATTATATCTGCTATGGTGATCTGTGATCAGTGGCCTTTGATGTTACTGTTGTTAAGTGTTTTGGGGCACCATGAATCGTGCCCATGTGAGACTGCGAACTTAGTGAATGTTGTGTGAGTTCTAACTGCTCTACTGACCGGCCATTTCCTTGTCTCTCTCCCTGTCCTCTGGCCTCCCTGTTCCTTGAGACACAATAATTAATAAGTCTACAGCAGACTCTGTGTGTTCAAGTGAAAGAAAGGGTCATACTTCTAGAAATTAAGCTTAGTAAGGAAGGCATGTCAAAAGCTGAGACAGGCTGAAAGCTAGGCCTCTTGCACTGGTTAGCCAAGTTGTGAATTCAAAGAAAAGGATCTTGAAGAAAATTAAAAATTCTACTCCAGTGCACACACACAAATGATAAGAAAGCAAAACAACCTTATTGCTGATATGGAGACAGTTTTAGTGGTCTGGATAGAAGATCAAACCAGCCACACATTAAGCCAAAGCATGACCCACAGCAAGGCCCTAACTCTCTTCAATTCTGTGAAGGCTGAGAGAGGTGAGGAAGCTGCAGGAAGCTGGGAGAGGTTGGTTCACAAGGTTTAAGGAAAGAAGACAGCTCTAAAACCTACAAGTGGAAAGCGAACCAGCAAGTTGCTGATGTGGAAGCTGTAGCAAGTTATCCAGAAGATGTAGCTAAAATCATTGACAAAGATGGCTACACTAAACAACGGATCTTCAGTGTAGTTGAAACAGCCTTCTATTGGAAGAAGATGCTATCTAGGACTTTCCTAGCTAGAGGGGAGAAATGAATGCCTAGCTTCAAAGCTTCAAAGGACAGCCTGACTCTCTTAAGAGCTAACACAGCTGGTGACTTTGGGTTAAAGCCAAAGCTCATTAACTGTTTCAAAAATCCTAAAACTCTTGTTTTTTGTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGAGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGCATTTTTTTAGTAGAGATGGGGTTTCACTCTGCTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCCAAAAATCGTAGGACTCTGAAGACTGATGCTAAACCTGCTGTGTCTGAGCTCTATAAATGGAACAACAAAGCCTCGCTGGCAGCACATCTGTTTGCGGCATGGTTTACTGTATATTTTAAGCCCACTGTTGAGACCTACTGCTTGGGAAAAAAAAAAATTCCTTTCAAAATACTACTGCTGATTGACAATACACCATGTTACCCAAGAGCTCTGCTGGAGATGTGCGAAGAGATTAGCATTGTTTTCGCGCCTGCTACCACGACATCCAGCCGAAGCCCATGGATCAAGGCGTCATTGTGACTT
GCTGAGATTGTGCCACTGCACTCCAGCCTGGACAGAGCTGAGATTACGTCTAAAAAGAAAAAGAAAAAATGCTGATTTCTGAGTCCTCTTCCCAGGGGCTCTGATCTAATTCATCAGGGTGTAGACAGGGAATCAATTGAGTTCACCAGGTGATTTTCATGTGGCTCAGGTCTGGATAGCACTGCACAATGTCGGAATCTCCACAGGTGGGGCTAGCCAGACGTGTGTTGAAGAGGTTCCTTTAGTGATTCTGGGGCAAGTCTCTGCCTGAAAAACCACCGGTTCAGAGAAATAGTTCTCAGCCGAGCCACCCTGTAAATCATCTGGGGCCTAAATACAATAAACACAGAAAACAGTGAACTATAAATGGGTAGCATGAGGGATTCGAGGAGGTGGCTGAAAGAAGCACGTATCCTGATGGCATGGTTGCGGGTTATATGACTCCATGCTCTGCAAGTCAGAACTCATAGAACTGCACACAAAAATGAGCGAATTTCACTGTAGGTAAATTTAAAAATAAAATATAAAAATAATGATGCCTAGGCCCTCCTCTCAGATTCTGATTTGATTTATCTGAAATGGGCCAGCCCCTCTACCTGTATATATGTATTTAACATCCCAAGCGATCATAATGTGCCACCAGGATGGAGAAAACTGCGGTGATGCGGCACTTCCCAAACACTAATGTCGTGCACGTGAACGTCAAGGACCTGTTAACATGAAGATTTTGATTTGGTAGGTCTGCTGCGCATAATGAAATCCTGCTTTTCTAACAGGCTCCTGGGTGATGCGGATGCTGCTGGGAAATGTTAGACATGCAGAATCCCAGGCCCCCACCCCCAACCTATAGAATCAGAATCTTCATCTTAACAAAATCCCCAGATGATTTACAAGCACCTCAAAGTTTGAGAAGAACTGTTCTGGGGTTCCCGTGGTGTGACAGCCATGGTGCTTGAGGGCTCAAAGGTCCAAATCCCTGGTGCGGGACCCTTCAGATAACTCAGTTGTTACCCTAATGTAGGAGCACATTTGGAATACACCCACCTTGTCCCAGACTCTCCCCAGCCCAGCACCACCTTCTCTCACCAATCCCCGTCAGAATAGAATCTCCTTGTATGCAGGTACAACATGGCTCATTTTTATATTTCCCAACGGTAGAATGTCTTGCACACAGAAGACTCCTAATGGATATTTCCTAAATTTTGCTGAACAGAATTTAACTTGAGCTGGCAACAGGCAGACTATGCACTTAGGTAGACATGCATTTAGTTTTGCCTTTTAATATTATAAATCTCTTTGGCTACATTCAAGGTAAACCTGGTATTGAAGCAAACTCTTTTTTATTTTTTTTTAGAGACAGGGTTTCATTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGAACATAGCTCACTGTAGCCTCAACCTCTGGGGGCTTGAGCAATCCTCCCACCTCAGCCTCCTGAGTATCTGGGACTACAGGCATGCACCACCACACCCAGCTAATTTTTCGTATTTTTTCTAGAGATAGGATCTCTGTGTTGCCCAGGCTGGTTTTGAACTCCTAGGCTCAAGCGATCCACCCACATTGGCCTCCCCAAGTGCTGGGATTACAGGCAAGGAGCCACTGCACCTGGCTGAAGCAAATGTTAATTACACGTTTCAATTATACAAATGCAAAGGGGAACTCTTAAAACTACTGCCAAAATTCACGACCCAATGTCAGCGCAGTCAGATCACTTGCCTGCATCTCAATGCCTCGCTCAAGTATCTCTTTTAAAACAACAGAATACTGTAATTTGTTAGTTGTCTAGAGTCTGACATAAATTTTTAGAGGAGAAAAACCAAATATAATATATTTATTTTGATTGTTTCCTGAGAGGATCAAGACTGGAAACCACTGCATCCTGGGGATCCCATGTTTTTAACTCTTGATGGGAAGACGATCCCACTGGGCGGAGACTGTACCGTGTACCCCGTGTTTGTGAATGAGGCCGCATATTACGAAAAGAAAGAAGCTTTTGCAAAGACAACTAAACTAACGCTCAATGAAAAAAGTATTCGCTGCTGTTTACATTAGAAATCACTTCCAGCTTACATCTTACACGGTGTCTTACAAATTCTGCTAGTCTGTAAGCTCCTTAAGAGTAGGGTTGTGCCTTATTCAACTGCATACATAGCTCCTAGCACAGTGCCTTATTCGGTAGGCATCTAAGCACATTTCTTAAATTAATTAATATATCTTTAAAGATATCATATTTTATGTATGTAGCTTATTCAAAGAAGTGTTTCCTATTTCTATATAGTTTATTATACATGATACTTGGGTAGCTCAACATTCTTAATAAACAGCCTTTGTATTCAGAATATAAAATTGAAATAGATATATATAAAGTTATTTGTTTTATTGTGCTTTGCCTTACTACACTTCACGGATACTGTACTTGTACTTTTTTTCCAAATTGAAGGTTTTTGGCAACCCTGTGTCTAGAAAGTCTAACAGTGCCATGTTTCCAACAGCATGTGCTCACTCCTTGTCTCTGTGTCACCCTTTGATAATATTTCAAGCTTTTTTATGATTTATTTATTATATCTGCTATGGTGATCTGTGATCAGTGGCCTTTGATGTTACTGTTGTTAAGTGTTTTGGGGCACCATGAATCGTGCCCATGTGAGACTGCGAACTTAGTGAATGTTGTGTGAGTTCTAACTGCTCTACTGACCGGCCATTTCCTTGTCTCTCTCCCTGTCCTCTGGCCTCCCTGTTCCTTGAGACACAATAATTAATAAGTCTACAGCAGACTCTGTGTGTTCAAGTGAAAGAAAGGGTCATACTTCTAGAAATTAAGCTTAGTAAGGAAGGCATGTCAAAAGCTGAGACAGGCTGAAAGCTAGGCCTCTTGCACTGGTTAGCCAAGTTGTGAATTCAAAGAAAAGGATCTTGAAGAAAATTAAAAATTCTACTCCAGTGCACACACACAAATGATAAGAAAGCAAAACAACCTTATTGCTGATATGGAGACAGTTTTAGTGGTCTGGATAGAAGATCAAACCAGCCACACATTAAGCCAAAGCATGACCCACAGCAAGGCCCTAACTCTCTTCAATTCTGTGAAGGCTGAGAGAGGTGAGGAAGCTGCAGGAAGCTGGGAGAGGTTGGTTCACAAGGTTTAAGGAAAGAAGACAGCTCTAAAACCTACAAGTGGAAAGCGAACCAGCAAGTTGCTGATGTGGAAGCTGTAGCAAGTTATCCAGAAGATGTAGCTAAAATCATTGACAAAGATGGCTACACTAAACAACGGATCTTCAGTGTAGTTGAAACAGCCTTCTATTGGAAGAAGATGCTATCTAGGACTTTCCTAGCTAGAGGGGAGAAATGAATGCCTAGCTTCAAAGCTTCAAAGGACAGCCTGACTCTCTTAAGAGCTAACACAGCTGGTGACTTTGGGTTAAAGCCAAAGCTCATTAACTGTTTCAAAAATCCTAAAACTCTTGTTTTTTGTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGAGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGCATTTTTTTAGTAGAGATGGGGTTTCACTCTGCTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCCAAAAATCGTAGGACTCTGAAGACTGATGCTAAACCTGCTGTGTCTGAGCTCTATAAATGGAACAACAAAGCCTCGCTGGCAGCACATCTGTTTGCGGCATGGTTTACTGTATATTTTAAGCCCACTGTTGAGACCTACTGCTTGGGAAAAAAAAAAATTCCTTTCAAAATACTACTGCTGATTGACAATACACCATGTTACCCAAGAGCTCTGCTGGAGATGTGCGAAGAGATTAGCATTGTTTTCGCGCCTGCTACCACGACATCCAGCCGAAGCCCATGGATCAAGGCGTCATTGTGACTT
Task1_train_23220
A variant affecting Chromosome 17, within the gene TRPV3 (transient receptor potential cation channel subfamily V member 3), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Olmsted syndrome 1
TTTTCTCAAACTCCAAGATGGTCCTGGCTCTCTGGGGACATAAGCAAGTCTAAGGAGTAGGCATCCACACTCACAAGCACACACAAGGGCACACACACTGTCGGGGAGCCCACTCCACCCTCACCTCATGCTTAATGCATAGATCGCAAGGGTTTGGCTAATCTACAGAATTCAAAGACAAAAAAGCAGGCCGGGCACGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTGCGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAACCCTGTTTCTACTAAAAACACAAAAATTAGGGCTGAGCGCACTGGCTCTTGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGATCAGGAGTTCGAGAGCAGCCTGGCCAACATGGCAAAAGCCGGTCTCTACTAAAAACACAAAAATTAGCTAGGCGTATGTCAGGCGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGAGGTTGGAGTTTGCAGTGAGCCGAGATCCCACCATTGCACTCCAGCCTGGGTGACAGAGCGAAACTCCATGATATAAATAATATTTCTGAAAGCCCAGGAGCTTCCTATCTGAAAGTGCTGGGGTCCTGGAATCCCATAGCAGAGGACCGTTCAAACATCATTTGTCCCACCCCCTCCCAGGCTTGGAATCTCTCTGCAGTTTCCTGGCCATAATTTTTCCAGTCTCTCTTGAATAGCATCAACAAACCAATTAAGAGGGCCTTGGACAGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGAATCGCTTTGAGCTCAGGAGTAAGCGGCCAGCCTAGGCAACATGGTGAAACCCCATCTCTACAAAAAATACAAAAATGACCCAGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGAGAATCACTTGAGCCCGGGAGGCAGAGTTTGCAGTGAGCTGATAATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGGAGGGCCTTAATAAAGAGAAACTTCCATGTGTGACATCAAAGCTTTTCTCCCTGTAGTAACCCCATGTACATCTGCCTTCCAGGACCACAGAAGGGATCTGCTCCCTCTTTCATAGGTTGTTCTGCAGATATCCAAAGGCACGCTCACCTTTTTCCAATGAGCATTTCTTTTTTTTTTTTTTTTTCTATTTTTGAGACAGAGTTTTTGCTCTGTCACCCAGGCTGCAGTGCCATGACACAATCTCAACTCGCTGCAACCTCCACCTCCTGGGTTCAAGCGATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGTACTAACACACCTGGCTAGCTTTTGTATTTTTAGTAGCGATGAGGTTTCACCATGTTGGCCAAGCTGGGCTCGAACTCTTGACCTCAGGTGATCCACCCGCTTCGGCCTTCCAAAGTGCTAAGATTACAGGGGTGAGCCACCATGCCCGGCCGCCAACCACCATTTCTTAAGAGGCAGTCTCCAGTCCTCTCCCAAACCTGGTTACCACCTCTGAACCCATCCTATGCATTGGTTTCCTCAGCATGTAAGAAGTGTTCAGGCCAGGATAGAATAGAGCAGAACTGTCACCTCCACTGTCCTAGACGCTGTACTCCTCTTAATGCAACCTAAGGTCAAACTTCAACATCCACACATCACACTGTCAACCCTGAGCAGAGCACCCCCATGAGCCTGAGTTTTTCTACACATTCTGTTGCACAGCCACACTCCCTAGACCCTACACTCAAAGAACCTAGGCTAAGGCCTCCTCAAACCTGGCCACACACTGAGGAGCTTGTGCAGATTCTCAGGCCCCACCTCAGACCCACTGGTGCTGACAGTAGTCAATGACCACGTGCTGAACTGAGTCCCGTGGAGGCCCCCACGCTGGGGTCTCCACCTAGGCTCACCTGCAGGCGCCAGATGCGTTCGCTCTCCTTGGAGACGTTCTCCACAGTCTCGCCCATCAGAGCAATGAGCATGTTGAGGAGGAGAACAAAGGTGAGGATGACATAGGTGATGAGCAGGAACAGAAAGAGAATGGGATACTTGGAGTTCTGCTGGATGTTCAGGTCACCCAGGCCTATGGTGAGCTTGAAGAGTTCCAGCACTGCGTCGCTGAAGCTGCCGTAGGAGCTGCAGTCCTTGTTGTCTTTGGGACACTTCTCGATCAGCGAGGCCAAGGCTAAGGGAACATAACAGGGTGCTCTCCTCAGCTCTCTGCCTGGTAATTACTCTACAAGCTTGCGTGTATTTGCCTACATGACAAGCCTGCTGCCTCCTTCTCTCTGGCCATTAAATCCCATCTCCAGTTTCAGGTCCTCTCAAAGCCTCATCAGGCTGGCTTCTCTGGCCTGGCCTCCTGCAGAAAGCCCTTCCACCTAACAAAGCCCAGAGTCTTCTCTCCTTCCTTTACCCCGCAGTCTGCCCTTGATCACTTGCAGCCTTGCAGAGCCACTAATTATAATCCATGTGTGTGTCCCTGGCTCCCCAGCTAGTCTTTGAGCTCCTGACTTCCTCTAGCCTGGGTCACCTCCCTCAAGGCTGTAAGATCCTGAGTCTCCTCCTAATGCTCTGTTTTGAGTTCCCTGTGAGCAAGACCAGGCTCACACTTCCCTTCTTTCCAACACACCACAGTAGAGGTTCACTGCTGAATGGTTGGATGGATGGATGGATGGATGGATGGATGGATATGGAGGGATGGATGGAGGGATGGATGATTAGATGGAGGGATGGATGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGGATGGATAGATGATTAGATGGATGGATGGATAGATGATTGGATGGATGGATGGATGGATGGGTGATTAGATGGATGGATGGATGGATGGATAGATGGATGGATGGACCAATTGATCGATGGATGGATGGATGATTAAATGGATGAATGGATGGATGACTGGATGGATGGATGGATGGATGGATGGATGATTAGATGGATGATTAGATGGATGGATGGACTGATTGATCGATGGATGGATGGATGATTGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGATGGATGAATGATTAGATGGATGGATGGATGGATGGATAGCTGGATGGATGGACCGATTGATCGATGGATGGATGATTAAATGGATGAATGGATGGATGACTGGATGGATGGATGGATGGATGGATGGATGGATGGATGATTGGATGGATGATTAGATGGATGGATGGATGGATGGATGGATGGATAGATGGATAGATCAATGGATGGATCGATGGATGAATGATTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGACGGATAGACAGGTGGATGAGCAAATTAAATGAGAGAGTAAATAGATGGATGAATAAACAAGCAGGTGAAGGAGCAAATAAATAAGCAAATTGTGACCCAGAAAAGGTACCAGACAGATGGAAACAGCTACTTAATTTCAAATGTCAATGGTCACTGAAGAAAAGAAAAAAAAGCAACTGGTACGTGGGGGAAAATGATATCTCTCTATGCAGAGGTTAGAAATACAACCAGATCGTGCTGTTCCCTCTGTTGTAAATGGAGAGATTTTAAGAGGGGGCTCCTTCCTGGTCCCAGCAGACCAGAGAGGCTCTCACAGTTGTATCTAAAGCAAACTGTGAGAGTAACGTGATGTGAAATCCAAAGGAAATCACCTCAGGGTATTAGTTTGCTCCTACTTTGCAAAGACCATCAGTTGAGTTTCTGTGGACTTTAGTTTCCGCATCTGTTAAAATGGGGCTGAAAACACTTGCAGAACCTATCTTAGGTCGTGAGGGCCACGTAAGCAATGAATGGGAAAGCCAGAGGTATATACCACATGGTGAAGTTGGATTATGAGTGGCTGGCCTGGTTTGAATCCTGGAGTCTCTAAGCCTCAGTTACCTTATGATCGGGGTGATGAT
TTTTCTCAAACTCCAAGATGGTCCTGGCTCTCTGGGGACATAAGCAAGTCTAAGGAGTAGGCATCCACACTCACAAGCACACACAAGGGCACACACACTGTCGGGGAGCCCACTCCACCCTCACCTCATGCTTAATGCATAGATCGCAAGGGTTTGGCTAATCTACAGAATTCAAAGACAAAAAAGCAGGCCGGGCACGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTGCGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAACCCTGTTTCTACTAAAAACACAAAAATTAGGGCTGAGCGCACTGGCTCTTGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGATCAGGAGTTCGAGAGCAGCCTGGCCAACATGGCAAAAGCCGGTCTCTACTAAAAACACAAAAATTAGCTAGGCGTATGTCAGGCGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGAGGTTGGAGTTTGCAGTGAGCCGAGATCCCACCATTGCACTCCAGCCTGGGTGACAGAGCGAAACTCCATGATATAAATAATATTTCTGAAAGCCCAGGAGCTTCCTATCTGAAAGTGCTGGGGTCCTGGAATCCCATAGCAGAGGACCGTTCAAACATCATTTGTCCCACCCCCTCCCAGGCTTGGAATCTCTCTGCAGTTTCCTGGCCATAATTTTTCCAGTCTCTCTTGAATAGCATCAACAAACCAATTAAGAGGGCCTTGGACAGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGAATCGCTTTGAGCTCAGGAGTAAGCGGCCAGCCTAGGCAACATGGTGAAACCCCATCTCTACAAAAAATACAAAAATGACCCAGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGAGAATCACTTGAGCCCGGGAGGCAGAGTTTGCAGTGAGCTGATAATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGGAGGGCCTTAATAAAGAGAAACTTCCATGTGTGACATCAAAGCTTTTCTCCCTGTAGTAACCCCATGTACATCTGCCTTCCAGGACCACAGAAGGGATCTGCTCCCTCTTTCATAGGTTGTTCTGCAGATATCCAAAGGCACGCTCACCTTTTTCCAATGAGCATTTCTTTTTTTTTTTTTTTTTCTATTTTTGAGACAGAGTTTTTGCTCTGTCACCCAGGCTGCAGTGCCATGACACAATCTCAACTCGCTGCAACCTCCACCTCCTGGGTTCAAGCGATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGTACTAACACACCTGGCTAGCTTTTGTATTTTTAGTAGCGATGAGGTTTCACCATGTTGGCCAAGCTGGGCTCGAACTCTTGACCTCAGGTGATCCACCCGCTTCGGCCTTCCAAAGTGCTAAGATTACAGGGGTGAGCCACCATGCCCGGCCGCCAACCACCATTTCTTAAGAGGCAGTCTCCAGTCCTCTCCCAAACCTGGTTACCACCTCTGAACCCATCCTATGCATTGGTTTCCTCAGCATGTAAGAAGTGTTCAGGCCAGGATAGAATAGAGCAGAACTGTCACCTCCACTGTCCTAGACGCTGTACTCCTCTTAATGCAACCTAAGGTCAAACTTCAACATCCACACATCACACTGTCAACCCTGAGCAGAGCACCCCCATGAGCCTGAGTTTTTCTACACATTCTGTTGCACAGCCACACTCCCTAGACCCTACACTCAAAGAACCTAGGCTAAGGCCTCCTCAAACCTGGCCACACACTGAGGAGCTTGTGCAGATTCTCAGGCCCCACCTCAGACCCACTGGTGCTGACAGTAGTCAATGACCACGTGCTGAACTGAGTCCCGTGGAGGCCCCCACGCTGGGGTCTCCACCTAGGCTCACCTGCAGGCGCCCGATGCGTTCGCTCTCCTTGGAGACGTTCTCCACAGTCTCGCCCATCAGAGCAATGAGCATGTTGAGGAGGAGAACAAAGGTGAGGATGACATAGGTGATGAGCAGGAACAGAAAGAGAATGGGATACTTGGAGTTCTGCTGGATGTTCAGGTCACCCAGGCCTATGGTGAGCTTGAAGAGTTCCAGCACTGCGTCGCTGAAGCTGCCGTAGGAGCTGCAGTCCTTGTTGTCTTTGGGACACTTCTCGATCAGCGAGGCCAAGGCTAAGGGAACATAACAGGGTGCTCTCCTCAGCTCTCTGCCTGGTAATTACTCTACAAGCTTGCGTGTATTTGCCTACATGACAAGCCTGCTGCCTCCTTCTCTCTGGCCATTAAATCCCATCTCCAGTTTCAGGTCCTCTCAAAGCCTCATCAGGCTGGCTTCTCTGGCCTGGCCTCCTGCAGAAAGCCCTTCCACCTAACAAAGCCCAGAGTCTTCTCTCCTTCCTTTACCCCGCAGTCTGCCCTTGATCACTTGCAGCCTTGCAGAGCCACTAATTATAATCCATGTGTGTGTCCCTGGCTCCCCAGCTAGTCTTTGAGCTCCTGACTTCCTCTAGCCTGGGTCACCTCCCTCAAGGCTGTAAGATCCTGAGTCTCCTCCTAATGCTCTGTTTTGAGTTCCCTGTGAGCAAGACCAGGCTCACACTTCCCTTCTTTCCAACACACCACAGTAGAGGTTCACTGCTGAATGGTTGGATGGATGGATGGATGGATGGATGGATGGATATGGAGGGATGGATGGAGGGATGGATGATTAGATGGAGGGATGGATGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGGATGGATAGATGATTAGATGGATGGATGGATAGATGATTGGATGGATGGATGGATGGATGGGTGATTAGATGGATGGATGGATGGATGGATAGATGGATGGATGGACCAATTGATCGATGGATGGATGGATGATTAAATGGATGAATGGATGGATGACTGGATGGATGGATGGATGGATGGATGGATGATTAGATGGATGATTAGATGGATGGATGGACTGATTGATCGATGGATGGATGGATGATTGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGATGGATGAATGATTAGATGGATGGATGGATGGATGGATAGCTGGATGGATGGACCGATTGATCGATGGATGGATGATTAAATGGATGAATGGATGGATGACTGGATGGATGGATGGATGGATGGATGGATGGATGGATGATTGGATGGATGATTAGATGGATGGATGGATGGATGGATGGATGGATAGATGGATAGATCAATGGATGGATCGATGGATGAATGATTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGACGGATAGACAGGTGGATGAGCAAATTAAATGAGAGAGTAAATAGATGGATGAATAAACAAGCAGGTGAAGGAGCAAATAAATAAGCAAATTGTGACCCAGAAAAGGTACCAGACAGATGGAAACAGCTACTTAATTTCAAATGTCAATGGTCACTGAAGAAAAGAAAAAAAAGCAACTGGTACGTGGGGGAAAATGATATCTCTCTATGCAGAGGTTAGAAATACAACCAGATCGTGCTGTTCCCTCTGTTGTAAATGGAGAGATTTTAAGAGGGGGCTCCTTCCTGGTCCCAGCAGACCAGAGAGGCTCTCACAGTTGTATCTAAAGCAAACTGTGAGAGTAACGTGATGTGAAATCCAAAGGAAATCACCTCAGGGTATTAGTTTGCTCCTACTTTGCAAAGACCATCAGTTGAGTTTCTGTGGACTTTAGTTTCCGCATCTGTTAAAATGGGGCTGAAAACACTTGCAGAACCTATCTTAGGTCGTGAGGGCCACGTAAGCAATGAATGGGAAAGCCAGAGGTATATACCACATGGTGAAGTTGGATTATGAGTGGCTGGCCTGGTTTGAATCCTGGAGTCTCTAAGCCTCAGTTACCTTATGATCGGGGTGATGAT
Task1_train_23221
A change on Chromosome 17 affects gene TRPV3 (transient receptor potential cation channel subfamily V member 3). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Isolated focal non-epidermolytic palmoplantar keratoderma
TTCACTATATTTACAATTGTGTGTGCTTTTGAGGTTACTTGTCTCTATCATAGCCATATGGCAGGAATTCTAGAGCGATGTGGATCTGCATGTTTCTCCCTAACTCTATGTCCAGTAACATAATGTTGGTAGCTGGAAATTGGCCCTGAGAGGAGAACAGTAGTCCGCCCTTCTCTTCGATTTCACTTTCTGCAGTTTTGGTTGCCTGTGGTCAACTATGACCCAGAAATATTACACACAATACAATATTCTGAGAGAGACAACATTCACATACTTTTATTACAGTATATTGTTATCATTGTTCTGTTAGTTATTGCCATTAATCTCACTATGCCTAATTGATAAAATAAATTTTATAAATTCCACATAGCCAGTTGAGTCTTAGAATAATTTGTTGATTCCCCCCCCCACCCCCCAGCACTTTGGGAGGCCGAGGCGGACGGATCACCTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGGGGCGGGAGAATTGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACTATTGCACTCCAGCCTGGGCAACAGAGCGAGACTCAGTCACAAACAAAAAAAAAAAAAAAAAGCAAAAATTATTCTAAGACTCAACTGGCTAAGTGGAATTTACAATAAACTGTATTGTATAGTATATTTTCATTATTTGCATAGATGTATATGTATAGGAAAAAACATAGCATATTATATAATGTTTGGTACTATCTGCAGTTTCAGGCATTCATGGGGGGTCTTAGAACATCTCCCCCAAGAATAAGGGGGGACTACTGTATTTACATCATGAAAATTGGTAAATGCCACAAATCAGAGATTGATTGACTCATTGTTTTGTTGATATCTAGATCTAAATGATTTAAGACAGTGATGGAGAAACTATTAATCCAGTTTAAATTTTAAAATGTGTTCTGTCTGCAGCCTTTACATTATGTATAGCACAAAAATATCAACAGAATATTATTCTGGTATTTGCAAACTAGTATCCAATTCAGCAAAGAAGTTGCTCACATCATTGATAAACAAGTAAAGTTCAACATAAATCTTAATTGTTTCACTTCAATCACTGCTTATAAAGAAAACTCTCAACCAACATTCATGTCTGATAGCACTCTTTTGTCAATTGCAACCAAAAGTTGACAACAAAAACTAGAATTCAATAAAAAGCAACAAATAGGCCTGGCGCGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACAATCCTGGCCAACATGCTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAACATGGTGGTGCGTGCCTGTGATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTTTACTCTGGCCTGGGCAGCAGAGCAAGACTTGGTCTCCAAAAAAAAAAAAAAAAAGCAACAAATTATTCTGAGACTCAACTGGCTATGTGGAATTTACAATAAACTGCATGGTATATTTTCATTATTTGCAAATTGTGTGATACACATCGTTTATATAGTAAAATGTATGATAAGTCTTTTGTGTATATATATGGAATATACATATTCCACCTACACACACACACATACACACACACACACACAGAACAGTCGTTAAATGTTTACCAGCACGCCACTGCCCAGGGGTGAGAACATTCCTCCACAAACTGTACCCCTCCCCAGCACCCCACAAGCCTGGGGGATTTAAGGTCTTGACACTTAAAGCCTGGCCGAAAGCAAAGGGAGTGCATGGCATTTGGGAGAAAGAGCAGTGACCTGCCCCTTGGTAAACCCCTCTTCCTCTCCAGATCTCAGTTTCCCCATCTGAAAAATGGCCATCCTCCGAGGGCCCTCCCGCCGGCGCAGCTCTCAACGCACCTTCTGGATCATGACGCTGTACATGCCCATGGACTGGAAACCCCGCGTATAGTAGAGCATGTTCGCCCAGCCCAGGGCCATGGCCAGCACGAGGCAGGCGAGGTACTCTTTGTAGGCAAACAAGTACAAGAAGACAGACAGTATCACAAGCACAGCTTGGATAAAACTGTTCAGGAGACACAGGAGACACGGGCCTTACTTACTTCTCAGCATCAGGGCAAAGATATGCAAATCCCCCAAACCTCCCTTAAACCCCCTGAACAGTCACCCCGGTGACGGATGCTGAAGAGACCAGAATCACGCTGCCTCAGATCCATTTGGCTACCATAGAATTCAGCCTGTAGAGACATCACCAGATGCCACTCACAGCCTGTGGTAAGCTGATTGCAGCTGGTGGGGACTTTAAAAAAAGAAAAAACACACATCCACAGGGCCGCAGAAGATTCTAGGGTACTGCCCGGGAGGCCATATATTTTTTAAATTACCCACACGGGCCTGGTGTAGTGGCTTTCGCCTGTAATCCCAACACTTTGGGGGGCTGAGATAGGAGAAACGCTTCAGGCCAGGAGTTCAGGACCAGCCTGAGTGACATAGTGAGACCTTGTCTCTACAAAAAAAAAAAAAAAAAGAAAAGAAAAATAATCTAAATCACCCACATAATTTCTGACTCCTGCATCGATTTGAGAACTACTGGAGTAGACCAAAGATGTGGTAAATGATTGTATTTTTAACCAAAATGACAAAAACTGCCAATATCTATACTTAAAAGCCAATCATAGCAAAAGTCCCCCAAACCCTACTTTTTAAATCGTGGTGTTTTTTGGGGGGGTCAGGGGGGCAGAGACAGGGTCTTGCTCTGTCACCTAGGCTGGAGTACAGTGGCATGAACTCTGCTCACTGCAACCTCCGCCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCACCCGCCACCACACCAGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTTCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAACGCGCCCAGCATTAAATCTTTTTAAAGTATGATGTATGCTAAGTGAAATAAGATAGGTGACTCCACTATATGACTGTACCTAAAATAGTCCAATTCACAGAGAAAGATGGAAGAATGGTGGTTACAGGGGGCCGGGAAAGGAGAGGAATAGGGGCTGTTGTTTAAGGGGTATGGAGTTTGAGTTTTACAGGACGAAAACAGTTCTAAAGACTGATTGCCCAACAACATGAATGTACTTCACAGTATTGATTTCTACGCTTAAAAAATGGGTGCAATGCTAACTTTTATGCTATGTGTATTTTACCACAATTAATTTTTTTTTTTTTTTTGAGATGTAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCATGATCTCGGCTCACTGCAGCCTCCGCCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGTGCATGCCACCACACACAAGGCTAATTTTTGTATTTTTTGTAGAGAGAGGGGATTTCACCAGACTGGTCTCAAACTCCTGACCTCAGATGATAGGCCCACCTTGGCCCACCAAAGTGCTGGGATTACAAGCATGACCCATCGTGCCCGGCCCACAGTTAAAATGTTTTTAAGTATAATATATCGCAAACATACAAAATCAATATCTACTCCTACACAGTCACATGCAGACATCTGCATAACATCCATTATGCAGACATCTGGATAAAAACACTGTCTTATAACATCAGACAGTTTCCAAAATTATAAAATAGCTAACCAAAGTCACAACACAGGCACGATTGTAAGAAAAACCATCTAATTCATCAACTGCATTTTAGACTGAAATGAAGAATGTCTCCCTCCACACTAACAAAACAAATAAGAAGCAGAAGAGGCCGGCGCAGGAGCTCACACCTGGAATCCCAGCACTCTGCAAGGCTGAGGTG
TTCACTATATTTACAATTGTGTGTGCTTTTGAGGTTACTTGTCTCTATCATAGCCATATGGCAGGAATTCTAGAGCGATGTGGATCTGCATGTTTCTCCCTAACTCTATGTCCAGTAACATAATGTTGGTAGCTGGAAATTGGCCCTGAGAGGAGAACAGTAGTCCGCCCTTCTCTTCGATTTCACTTTCTGCAGTTTTGGTTGCCTGTGGTCAACTATGACCCAGAAATATTACACACAATACAATATTCTGAGAGAGACAACATTCACATACTTTTATTACAGTATATTGTTATCATTGTTCTGTTAGTTATTGCCATTAATCTCACTATGCCTAATTGATAAAATAAATTTTATAAATTCCACATAGCCAGTTGAGTCTTAGAATAATTTGTTGATTCCCCCCCCCACCCCCCAGCACTTTGGGAGGCCGAGGCGGACGGATCACCTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGGGGCGGGAGAATTGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACTATTGCACTCCAGCCTGGGCAACAGAGCGAGACTCAGTCACAAACAAAAAAAAAAAAAAAAAGCAAAAATTATTCTAAGACTCAACTGGCTAAGTGGAATTTACAATAAACTGTATTGTATAGTATATTTTCATTATTTGCATAGATGTATATGTATAGGAAAAAACATAGCATATTATATAATGTTTGGTACTATCTGCAGTTTCAGGCATTCATGGGGGGTCTTAGAACATCTCCCCCAAGAATAAGGGGGGACTACTGTATTTACATCATGAAAATTGGTAAATGCCACAAATCAGAGATTGATTGACTCATTGTTTTGTTGATATCTAGATCTAAATGATTTAAGACAGTGATGGAGAAACTATTAATCCAGTTTAAATTTTAAAATGTGTTCTGTCTGCAGCCTTTACATTATGTATAGCACAAAAATATCAACAGAATATTATTCTGGTATTTGCAAACTAGTATCCAATTCAGCAAAGAAGTTGCTCACATCATTGATAAACAAGTAAAGTTCAACATAAATCTTAATTGTTTCACTTCAATCACTGCTTATAAAGAAAACTCTCAACCAACATTCATGTCTGATAGCACTCTTTTGTCAATTGCAACCAAAAGTTGACAACAAAAACTAGAATTCAATAAAAAGCAACAAATAGGCCTGGCGCGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACAATCCTGGCCAACATGCTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAACATGGTGGTGCGTGCCTGTGATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTTTACTCTGGCCTGGGCAGCAGAGCAAGACTTGGTCTCCAAAAAAAAAAAAAAAAAGCAACAAATTATTCTGAGACTCAACTGGCTATGTGGAATTTACAATAAACTGCATGGTATATTTTCATTATTTGCAAATTGTGTGATACACATCGTTTATATAGTAAAATGTATGATAAGTCTTTTGTGTATATATATGGAATATACATATTCCACCTACACACACACACATACACACACACACACACAGAACAGTCGTTAAATGTTTACCAGCACGCCACTGCCCAGGGGTGAGAACATTCCTCCACAAACTGTACCCCTCCCCAGCACCCCACAAGCCTGGGGGATTTAAGGTCTTGACACTTAAAGCCTGGCCGAAAGCAAAGGGAGTGCATGGCATTTGGGAGAAAGAGCAGTGACCTGCCCCTTGGTAAACCCCTCTTCCTCTCCAGATCTCAGTTTCCCCATCTGAAAAATGGCCATCCTCCGAGGGCCCTCCCGCCGGCGCAGCTCTCAACGCACCTTCGGGATCATGACGCTGTACATGCCCATGGACTGGAAACCCCGCGTATAGTAGAGCATGTTCGCCCAGCCCAGGGCCATGGCCAGCACGAGGCAGGCGAGGTACTCTTTGTAGGCAAACAAGTACAAGAAGACAGACAGTATCACAAGCACAGCTTGGATAAAACTGTTCAGGAGACACAGGAGACACGGGCCTTACTTACTTCTCAGCATCAGGGCAAAGATATGCAAATCCCCCAAACCTCCCTTAAACCCCCTGAACAGTCACCCCGGTGACGGATGCTGAAGAGACCAGAATCACGCTGCCTCAGATCCATTTGGCTACCATAGAATTCAGCCTGTAGAGACATCACCAGATGCCACTCACAGCCTGTGGTAAGCTGATTGCAGCTGGTGGGGACTTTAAAAAAAGAAAAAACACACATCCACAGGGCCGCAGAAGATTCTAGGGTACTGCCCGGGAGGCCATATATTTTTTAAATTACCCACACGGGCCTGGTGTAGTGGCTTTCGCCTGTAATCCCAACACTTTGGGGGGCTGAGATAGGAGAAACGCTTCAGGCCAGGAGTTCAGGACCAGCCTGAGTGACATAGTGAGACCTTGTCTCTACAAAAAAAAAAAAAAAAAGAAAAGAAAAATAATCTAAATCACCCACATAATTTCTGACTCCTGCATCGATTTGAGAACTACTGGAGTAGACCAAAGATGTGGTAAATGATTGTATTTTTAACCAAAATGACAAAAACTGCCAATATCTATACTTAAAAGCCAATCATAGCAAAAGTCCCCCAAACCCTACTTTTTAAATCGTGGTGTTTTTTGGGGGGGTCAGGGGGGCAGAGACAGGGTCTTGCTCTGTCACCTAGGCTGGAGTACAGTGGCATGAACTCTGCTCACTGCAACCTCCGCCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCACCCGCCACCACACCAGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTTCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAACGCGCCCAGCATTAAATCTTTTTAAAGTATGATGTATGCTAAGTGAAATAAGATAGGTGACTCCACTATATGACTGTACCTAAAATAGTCCAATTCACAGAGAAAGATGGAAGAATGGTGGTTACAGGGGGCCGGGAAAGGAGAGGAATAGGGGCTGTTGTTTAAGGGGTATGGAGTTTGAGTTTTACAGGACGAAAACAGTTCTAAAGACTGATTGCCCAACAACATGAATGTACTTCACAGTATTGATTTCTACGCTTAAAAAATGGGTGCAATGCTAACTTTTATGCTATGTGTATTTTACCACAATTAATTTTTTTTTTTTTTTTGAGATGTAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCATGATCTCGGCTCACTGCAGCCTCCGCCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGTGCATGCCACCACACACAAGGCTAATTTTTGTATTTTTTGTAGAGAGAGGGGATTTCACCAGACTGGTCTCAAACTCCTGACCTCAGATGATAGGCCCACCTTGGCCCACCAAAGTGCTGGGATTACAAGCATGACCCATCGTGCCCGGCCCACAGTTAAAATGTTTTTAAGTATAATATATCGCAAACATACAAAATCAATATCTACTCCTACACAGTCACATGCAGACATCTGCATAACATCCATTATGCAGACATCTGGATAAAAACACTGTCTTATAACATCAGACAGTTTCCAAAATTATAAAATAGCTAACCAAAGTCACAACACAGGCACGATTGTAAGAAAAACCATCTAATTCATCAACTGCATTTTAGACTGAAATGAAGAATGTCTCCCTCCACACTAACAAAACAAATAAGAAGCAGAAGAGGCCGGCGCAGGAGCTCACACCTGGAATCCCAGCACTCTGCAAGGCTGAGGTG
Task1_train_23222
Gene TRPV3 (transient receptor potential cation channel subfamily V member 3) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; not provided
TGTGCTTTTGAGGTTACTTGTCTCTATCATAGCCATATGGCAGGAATTCTAGAGCGATGTGGATCTGCATGTTTCTCCCTAACTCTATGTCCAGTAACATAATGTTGGTAGCTGGAAATTGGCCCTGAGAGGAGAACAGTAGTCCGCCCTTCTCTTCGATTTCACTTTCTGCAGTTTTGGTTGCCTGTGGTCAACTATGACCCAGAAATATTACACACAATACAATATTCTGAGAGAGACAACATTCACATACTTTTATTACAGTATATTGTTATCATTGTTCTGTTAGTTATTGCCATTAATCTCACTATGCCTAATTGATAAAATAAATTTTATAAATTCCACATAGCCAGTTGAGTCTTAGAATAATTTGTTGATTCCCCCCCCCACCCCCCAGCACTTTGGGAGGCCGAGGCGGACGGATCACCTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGGGGCGGGAGAATTGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACTATTGCACTCCAGCCTGGGCAACAGAGCGAGACTCAGTCACAAACAAAAAAAAAAAAAAAAAGCAAAAATTATTCTAAGACTCAACTGGCTAAGTGGAATTTACAATAAACTGTATTGTATAGTATATTTTCATTATTTGCATAGATGTATATGTATAGGAAAAAACATAGCATATTATATAATGTTTGGTACTATCTGCAGTTTCAGGCATTCATGGGGGGTCTTAGAACATCTCCCCCAAGAATAAGGGGGGACTACTGTATTTACATCATGAAAATTGGTAAATGCCACAAATCAGAGATTGATTGACTCATTGTTTTGTTGATATCTAGATCTAAATGATTTAAGACAGTGATGGAGAAACTATTAATCCAGTTTAAATTTTAAAATGTGTTCTGTCTGCAGCCTTTACATTATGTATAGCACAAAAATATCAACAGAATATTATTCTGGTATTTGCAAACTAGTATCCAATTCAGCAAAGAAGTTGCTCACATCATTGATAAACAAGTAAAGTTCAACATAAATCTTAATTGTTTCACTTCAATCACTGCTTATAAAGAAAACTCTCAACCAACATTCATGTCTGATAGCACTCTTTTGTCAATTGCAACCAAAAGTTGACAACAAAAACTAGAATTCAATAAAAAGCAACAAATAGGCCTGGCGCGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACAATCCTGGCCAACATGCTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAACATGGTGGTGCGTGCCTGTGATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTTTACTCTGGCCTGGGCAGCAGAGCAAGACTTGGTCTCCAAAAAAAAAAAAAAAAAGCAACAAATTATTCTGAGACTCAACTGGCTATGTGGAATTTACAATAAACTGCATGGTATATTTTCATTATTTGCAAATTGTGTGATACACATCGTTTATATAGTAAAATGTATGATAAGTCTTTTGTGTATATATATGGAATATACATATTCCACCTACACACACACACATACACACACACACACACAGAACAGTCGTTAAATGTTTACCAGCACGCCACTGCCCAGGGGTGAGAACATTCCTCCACAAACTGTACCCCTCCCCAGCACCCCACAAGCCTGGGGGATTTAAGGTCTTGACACTTAAAGCCTGGCCGAAAGCAAAGGGAGTGCATGGCATTTGGGAGAAAGAGCAGTGACCTGCCCCTTGGTAAACCCCTCTTCCTCTCCAGATCTCAGTTTCCCCATCTGAAAAATGGCCATCCTCCGAGGGCCCTCCCGCCGGCGCAGCTCTCAACGCACCTTCTGGATCATGACGCTGTACATGCCCATGGACTGGAAACCCCGCGTATAGTAGAGCATGTTCGCCCAGCCCAGGGCCATGGCCAGCACGAGGCAGGCGAGGTACTCTTTGTAGGCAAACAAGTACAAGAAGACAGACAGTATCACAAGCACAGCTTGGATAAAACTGTTCAGGAGACACAGGAGACACGGGCCTTACTTACTTCTCAGCATCAGGGCAAAGATATGCAAATCCCCCAAACCTCCCTTAAACCCCCTGAACAGTCACCCCGGTGACGGATGCTGAAGAGACCAGAATCACGCTGCCTCAGATCCATTTGGCTACCATAGAATTCAGCCTGTAGAGACATCACCAGATGCCACTCACAGCCTGTGGTAAGCTGATTGCAGCTGGTGGGGACTTTAAAAAAAGAAAAAACACACATCCACAGGGCCGCAGAAGATTCTAGGGTACTGCCCGGGAGGCCATATATTTTTTAAATTACCCACACGGGCCTGGTGTAGTGGCTTTCGCCTGTAATCCCAACACTTTGGGGGGCTGAGATAGGAGAAACGCTTCAGGCCAGGAGTTCAGGACCAGCCTGAGTGACATAGTGAGACCTTGTCTCTACAAAAAAAAAAAAAAAAAGAAAAGAAAAATAATCTAAATCACCCACATAATTTCTGACTCCTGCATCGATTTGAGAACTACTGGAGTAGACCAAAGATGTGGTAAATGATTGTATTTTTAACCAAAATGACAAAAACTGCCAATATCTATACTTAAAAGCCAATCATAGCAAAAGTCCCCCAAACCCTACTTTTTAAATCGTGGTGTTTTTTGGGGGGGTCAGGGGGGCAGAGACAGGGTCTTGCTCTGTCACCTAGGCTGGAGTACAGTGGCATGAACTCTGCTCACTGCAACCTCCGCCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCACCCGCCACCACACCAGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTTCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAACGCGCCCAGCATTAAATCTTTTTAAAGTATGATGTATGCTAAGTGAAATAAGATAGGTGACTCCACTATATGACTGTACCTAAAATAGTCCAATTCACAGAGAAAGATGGAAGAATGGTGGTTACAGGGGGCCGGGAAAGGAGAGGAATAGGGGCTGTTGTTTAAGGGGTATGGAGTTTGAGTTTTACAGGACGAAAACAGTTCTAAAGACTGATTGCCCAACAACATGAATGTACTTCACAGTATTGATTTCTACGCTTAAAAAATGGGTGCAATGCTAACTTTTATGCTATGTGTATTTTACCACAATTAATTTTTTTTTTTTTTTTGAGATGTAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCATGATCTCGGCTCACTGCAGCCTCCGCCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGTGCATGCCACCACACACAAGGCTAATTTTTGTATTTTTTGTAGAGAGAGGGGATTTCACCAGACTGGTCTCAAACTCCTGACCTCAGATGATAGGCCCACCTTGGCCCACCAAAGTGCTGGGATTACAAGCATGACCCATCGTGCCCGGCCCACAGTTAAAATGTTTTTAAGTATAATATATCGCAAACATACAAAATCAATATCTACTCCTACACAGTCACATGCAGACATCTGCATAACATCCATTATGCAGACATCTGGATAAAAACACTGTCTTATAACATCAGACAGTTTCCAAAATTATAAAATAGCTAACCAAAGTCACAACACAGGCACGATTGTAAGAAAAACCATCTAATTCATCAACTGCATTTTAGACTGAAATGAAGAATGTCTCCCTCCACACTAACAAAACAAATAAGAAGCAGAAGAGGCCGGCGCAGGAGCTCACACCTGGAATCCCAGCACTCTGCAAGGCTGAGGTGGGCAGATCACTTGAGGTCAGG
TGTGCTTTTGAGGTTACTTGTCTCTATCATAGCCATATGGCAGGAATTCTAGAGCGATGTGGATCTGCATGTTTCTCCCTAACTCTATGTCCAGTAACATAATGTTGGTAGCTGGAAATTGGCCCTGAGAGGAGAACAGTAGTCCGCCCTTCTCTTCGATTTCACTTTCTGCAGTTTTGGTTGCCTGTGGTCAACTATGACCCAGAAATATTACACACAATACAATATTCTGAGAGAGACAACATTCACATACTTTTATTACAGTATATTGTTATCATTGTTCTGTTAGTTATTGCCATTAATCTCACTATGCCTAATTGATAAAATAAATTTTATAAATTCCACATAGCCAGTTGAGTCTTAGAATAATTTGTTGATTCCCCCCCCCACCCCCCAGCACTTTGGGAGGCCGAGGCGGACGGATCACCTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGGGGCGGGAGAATTGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACTATTGCACTCCAGCCTGGGCAACAGAGCGAGACTCAGTCACAAACAAAAAAAAAAAAAAAAAGCAAAAATTATTCTAAGACTCAACTGGCTAAGTGGAATTTACAATAAACTGTATTGTATAGTATATTTTCATTATTTGCATAGATGTATATGTATAGGAAAAAACATAGCATATTATATAATGTTTGGTACTATCTGCAGTTTCAGGCATTCATGGGGGGTCTTAGAACATCTCCCCCAAGAATAAGGGGGGACTACTGTATTTACATCATGAAAATTGGTAAATGCCACAAATCAGAGATTGATTGACTCATTGTTTTGTTGATATCTAGATCTAAATGATTTAAGACAGTGATGGAGAAACTATTAATCCAGTTTAAATTTTAAAATGTGTTCTGTCTGCAGCCTTTACATTATGTATAGCACAAAAATATCAACAGAATATTATTCTGGTATTTGCAAACTAGTATCCAATTCAGCAAAGAAGTTGCTCACATCATTGATAAACAAGTAAAGTTCAACATAAATCTTAATTGTTTCACTTCAATCACTGCTTATAAAGAAAACTCTCAACCAACATTCATGTCTGATAGCACTCTTTTGTCAATTGCAACCAAAAGTTGACAACAAAAACTAGAATTCAATAAAAAGCAACAAATAGGCCTGGCGCGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACAATCCTGGCCAACATGCTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAACATGGTGGTGCGTGCCTGTGATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTTTACTCTGGCCTGGGCAGCAGAGCAAGACTTGGTCTCCAAAAAAAAAAAAAAAAAGCAACAAATTATTCTGAGACTCAACTGGCTATGTGGAATTTACAATAAACTGCATGGTATATTTTCATTATTTGCAAATTGTGTGATACACATCGTTTATATAGTAAAATGTATGATAAGTCTTTTGTGTATATATATGGAATATACATATTCCACCTACACACACACACATACACACACACACACACAGAACAGTCGTTAAATGTTTACCAGCACGCCACTGCCCAGGGGTGAGAACATTCCTCCACAAACTGTACCCCTCCCCAGCACCCCACAAGCCTGGGGGATTTAAGGTCTTGACACTTAAAGCCTGGCCGAAAGCAAAGGGAGTGCATGGCATTTGGGAGAAAGAGCAGTGACCTGCCCCTTGGTAAACCCCTCTTCCTCTCCAGATCTCAGTTTCCCCATCTGAAAAATGGCCATCCTCCGAGGGCCCTCCCGCCGGCGCAGCTCTCAACGCACCTTCTGGATCATGACGCTGTACATGACCATGGACTGGAAACCCCGCGTATAGTAGAGCATGTTCGCCCAGCCCAGGGCCATGGCCAGCACGAGGCAGGCGAGGTACTCTTTGTAGGCAAACAAGTACAAGAAGACAGACAGTATCACAAGCACAGCTTGGATAAAACTGTTCAGGAGACACAGGAGACACGGGCCTTACTTACTTCTCAGCATCAGGGCAAAGATATGCAAATCCCCCAAACCTCCCTTAAACCCCCTGAACAGTCACCCCGGTGACGGATGCTGAAGAGACCAGAATCACGCTGCCTCAGATCCATTTGGCTACCATAGAATTCAGCCTGTAGAGACATCACCAGATGCCACTCACAGCCTGTGGTAAGCTGATTGCAGCTGGTGGGGACTTTAAAAAAAGAAAAAACACACATCCACAGGGCCGCAGAAGATTCTAGGGTACTGCCCGGGAGGCCATATATTTTTTAAATTACCCACACGGGCCTGGTGTAGTGGCTTTCGCCTGTAATCCCAACACTTTGGGGGGCTGAGATAGGAGAAACGCTTCAGGCCAGGAGTTCAGGACCAGCCTGAGTGACATAGTGAGACCTTGTCTCTACAAAAAAAAAAAAAAAAAGAAAAGAAAAATAATCTAAATCACCCACATAATTTCTGACTCCTGCATCGATTTGAGAACTACTGGAGTAGACCAAAGATGTGGTAAATGATTGTATTTTTAACCAAAATGACAAAAACTGCCAATATCTATACTTAAAAGCCAATCATAGCAAAAGTCCCCCAAACCCTACTTTTTAAATCGTGGTGTTTTTTGGGGGGGTCAGGGGGGCAGAGACAGGGTCTTGCTCTGTCACCTAGGCTGGAGTACAGTGGCATGAACTCTGCTCACTGCAACCTCCGCCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCACCCGCCACCACACCAGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTTCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAACGCGCCCAGCATTAAATCTTTTTAAAGTATGATGTATGCTAAGTGAAATAAGATAGGTGACTCCACTATATGACTGTACCTAAAATAGTCCAATTCACAGAGAAAGATGGAAGAATGGTGGTTACAGGGGGCCGGGAAAGGAGAGGAATAGGGGCTGTTGTTTAAGGGGTATGGAGTTTGAGTTTTACAGGACGAAAACAGTTCTAAAGACTGATTGCCCAACAACATGAATGTACTTCACAGTATTGATTTCTACGCTTAAAAAATGGGTGCAATGCTAACTTTTATGCTATGTGTATTTTACCACAATTAATTTTTTTTTTTTTTTTGAGATGTAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCATGATCTCGGCTCACTGCAGCCTCCGCCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGTGCATGCCACCACACACAAGGCTAATTTTTGTATTTTTTGTAGAGAGAGGGGATTTCACCAGACTGGTCTCAAACTCCTGACCTCAGATGATAGGCCCACCTTGGCCCACCAAAGTGCTGGGATTACAAGCATGACCCATCGTGCCCGGCCCACAGTTAAAATGTTTTTAAGTATAATATATCGCAAACATACAAAATCAATATCTACTCCTACACAGTCACATGCAGACATCTGCATAACATCCATTATGCAGACATCTGGATAAAAACACTGTCTTATAACATCAGACAGTTTCCAAAATTATAAAATAGCTAACCAAAGTCACAACACAGGCACGATTGTAAGAAAAACCATCTAATTCATCAACTGCATTTTAGACTGAAATGAAGAATGTCTCCCTCCACACTAACAAAACAAATAAGAAGCAGAAGAGGCCGGCGCAGGAGCTCACACCTGGAATCCCAGCACTCTGCAAGGCTGAGGTGGGCAGATCACTTGAGGTCAGG
Task1_train_23223
This alteration in TRPV3 (transient receptor potential cation channel subfamily V member 3) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Olmsted syndrome 1
GTGCTTTTGAGGTTACTTGTCTCTATCATAGCCATATGGCAGGAATTCTAGAGCGATGTGGATCTGCATGTTTCTCCCTAACTCTATGTCCAGTAACATAATGTTGGTAGCTGGAAATTGGCCCTGAGAGGAGAACAGTAGTCCGCCCTTCTCTTCGATTTCACTTTCTGCAGTTTTGGTTGCCTGTGGTCAACTATGACCCAGAAATATTACACACAATACAATATTCTGAGAGAGACAACATTCACATACTTTTATTACAGTATATTGTTATCATTGTTCTGTTAGTTATTGCCATTAATCTCACTATGCCTAATTGATAAAATAAATTTTATAAATTCCACATAGCCAGTTGAGTCTTAGAATAATTTGTTGATTCCCCCCCCCACCCCCCAGCACTTTGGGAGGCCGAGGCGGACGGATCACCTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGGGGCGGGAGAATTGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACTATTGCACTCCAGCCTGGGCAACAGAGCGAGACTCAGTCACAAACAAAAAAAAAAAAAAAAAGCAAAAATTATTCTAAGACTCAACTGGCTAAGTGGAATTTACAATAAACTGTATTGTATAGTATATTTTCATTATTTGCATAGATGTATATGTATAGGAAAAAACATAGCATATTATATAATGTTTGGTACTATCTGCAGTTTCAGGCATTCATGGGGGGTCTTAGAACATCTCCCCCAAGAATAAGGGGGGACTACTGTATTTACATCATGAAAATTGGTAAATGCCACAAATCAGAGATTGATTGACTCATTGTTTTGTTGATATCTAGATCTAAATGATTTAAGACAGTGATGGAGAAACTATTAATCCAGTTTAAATTTTAAAATGTGTTCTGTCTGCAGCCTTTACATTATGTATAGCACAAAAATATCAACAGAATATTATTCTGGTATTTGCAAACTAGTATCCAATTCAGCAAAGAAGTTGCTCACATCATTGATAAACAAGTAAAGTTCAACATAAATCTTAATTGTTTCACTTCAATCACTGCTTATAAAGAAAACTCTCAACCAACATTCATGTCTGATAGCACTCTTTTGTCAATTGCAACCAAAAGTTGACAACAAAAACTAGAATTCAATAAAAAGCAACAAATAGGCCTGGCGCGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACAATCCTGGCCAACATGCTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAACATGGTGGTGCGTGCCTGTGATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTTTACTCTGGCCTGGGCAGCAGAGCAAGACTTGGTCTCCAAAAAAAAAAAAAAAAAGCAACAAATTATTCTGAGACTCAACTGGCTATGTGGAATTTACAATAAACTGCATGGTATATTTTCATTATTTGCAAATTGTGTGATACACATCGTTTATATAGTAAAATGTATGATAAGTCTTTTGTGTATATATATGGAATATACATATTCCACCTACACACACACACATACACACACACACACACAGAACAGTCGTTAAATGTTTACCAGCACGCCACTGCCCAGGGGTGAGAACATTCCTCCACAAACTGTACCCCTCCCCAGCACCCCACAAGCCTGGGGGATTTAAGGTCTTGACACTTAAAGCCTGGCCGAAAGCAAAGGGAGTGCATGGCATTTGGGAGAAAGAGCAGTGACCTGCCCCTTGGTAAACCCCTCTTCCTCTCCAGATCTCAGTTTCCCCATCTGAAAAATGGCCATCCTCCGAGGGCCCTCCCGCCGGCGCAGCTCTCAACGCACCTTCTGGATCATGACGCTGTACATGCCCATGGACTGGAAACCCCGCGTATAGTAGAGCATGTTCGCCCAGCCCAGGGCCATGGCCAGCACGAGGCAGGCGAGGTACTCTTTGTAGGCAAACAAGTACAAGAAGACAGACAGTATCACAAGCACAGCTTGGATAAAACTGTTCAGGAGACACAGGAGACACGGGCCTTACTTACTTCTCAGCATCAGGGCAAAGATATGCAAATCCCCCAAACCTCCCTTAAACCCCCTGAACAGTCACCCCGGTGACGGATGCTGAAGAGACCAGAATCACGCTGCCTCAGATCCATTTGGCTACCATAGAATTCAGCCTGTAGAGACATCACCAGATGCCACTCACAGCCTGTGGTAAGCTGATTGCAGCTGGTGGGGACTTTAAAAAAAGAAAAAACACACATCCACAGGGCCGCAGAAGATTCTAGGGTACTGCCCGGGAGGCCATATATTTTTTAAATTACCCACACGGGCCTGGTGTAGTGGCTTTCGCCTGTAATCCCAACACTTTGGGGGGCTGAGATAGGAGAAACGCTTCAGGCCAGGAGTTCAGGACCAGCCTGAGTGACATAGTGAGACCTTGTCTCTACAAAAAAAAAAAAAAAAAGAAAAGAAAAATAATCTAAATCACCCACATAATTTCTGACTCCTGCATCGATTTGAGAACTACTGGAGTAGACCAAAGATGTGGTAAATGATTGTATTTTTAACCAAAATGACAAAAACTGCCAATATCTATACTTAAAAGCCAATCATAGCAAAAGTCCCCCAAACCCTACTTTTTAAATCGTGGTGTTTTTTGGGGGGGTCAGGGGGGCAGAGACAGGGTCTTGCTCTGTCACCTAGGCTGGAGTACAGTGGCATGAACTCTGCTCACTGCAACCTCCGCCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCACCCGCCACCACACCAGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTTCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAACGCGCCCAGCATTAAATCTTTTTAAAGTATGATGTATGCTAAGTGAAATAAGATAGGTGACTCCACTATATGACTGTACCTAAAATAGTCCAATTCACAGAGAAAGATGGAAGAATGGTGGTTACAGGGGGCCGGGAAAGGAGAGGAATAGGGGCTGTTGTTTAAGGGGTATGGAGTTTGAGTTTTACAGGACGAAAACAGTTCTAAAGACTGATTGCCCAACAACATGAATGTACTTCACAGTATTGATTTCTACGCTTAAAAAATGGGTGCAATGCTAACTTTTATGCTATGTGTATTTTACCACAATTAATTTTTTTTTTTTTTTTGAGATGTAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCATGATCTCGGCTCACTGCAGCCTCCGCCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGTGCATGCCACCACACACAAGGCTAATTTTTGTATTTTTTGTAGAGAGAGGGGATTTCACCAGACTGGTCTCAAACTCCTGACCTCAGATGATAGGCCCACCTTGGCCCACCAAAGTGCTGGGATTACAAGCATGACCCATCGTGCCCGGCCCACAGTTAAAATGTTTTTAAGTATAATATATCGCAAACATACAAAATCAATATCTACTCCTACACAGTCACATGCAGACATCTGCATAACATCCATTATGCAGACATCTGGATAAAAACACTGTCTTATAACATCAGACAGTTTCCAAAATTATAAAATAGCTAACCAAAGTCACAACACAGGCACGATTGTAAGAAAAACCATCTAATTCATCAACTGCATTTTAGACTGAAATGAAGAATGTCTCCCTCCACACTAACAAAACAAATAAGAAGCAGAAGAGGCCGGCGCAGGAGCTCACACCTGGAATCCCAGCACTCTGCAAGGCTGAGGTGGGCAGATCACTTGAGGTCAGGA
GTGCTTTTGAGGTTACTTGTCTCTATCATAGCCATATGGCAGGAATTCTAGAGCGATGTGGATCTGCATGTTTCTCCCTAACTCTATGTCCAGTAACATAATGTTGGTAGCTGGAAATTGGCCCTGAGAGGAGAACAGTAGTCCGCCCTTCTCTTCGATTTCACTTTCTGCAGTTTTGGTTGCCTGTGGTCAACTATGACCCAGAAATATTACACACAATACAATATTCTGAGAGAGACAACATTCACATACTTTTATTACAGTATATTGTTATCATTGTTCTGTTAGTTATTGCCATTAATCTCACTATGCCTAATTGATAAAATAAATTTTATAAATTCCACATAGCCAGTTGAGTCTTAGAATAATTTGTTGATTCCCCCCCCCACCCCCCAGCACTTTGGGAGGCCGAGGCGGACGGATCACCTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGGGGCGGGAGAATTGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACTATTGCACTCCAGCCTGGGCAACAGAGCGAGACTCAGTCACAAACAAAAAAAAAAAAAAAAAGCAAAAATTATTCTAAGACTCAACTGGCTAAGTGGAATTTACAATAAACTGTATTGTATAGTATATTTTCATTATTTGCATAGATGTATATGTATAGGAAAAAACATAGCATATTATATAATGTTTGGTACTATCTGCAGTTTCAGGCATTCATGGGGGGTCTTAGAACATCTCCCCCAAGAATAAGGGGGGACTACTGTATTTACATCATGAAAATTGGTAAATGCCACAAATCAGAGATTGATTGACTCATTGTTTTGTTGATATCTAGATCTAAATGATTTAAGACAGTGATGGAGAAACTATTAATCCAGTTTAAATTTTAAAATGTGTTCTGTCTGCAGCCTTTACATTATGTATAGCACAAAAATATCAACAGAATATTATTCTGGTATTTGCAAACTAGTATCCAATTCAGCAAAGAAGTTGCTCACATCATTGATAAACAAGTAAAGTTCAACATAAATCTTAATTGTTTCACTTCAATCACTGCTTATAAAGAAAACTCTCAACCAACATTCATGTCTGATAGCACTCTTTTGTCAATTGCAACCAAAAGTTGACAACAAAAACTAGAATTCAATAAAAAGCAACAAATAGGCCTGGCGCGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACAATCCTGGCCAACATGCTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAACATGGTGGTGCGTGCCTGTGATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTTTACTCTGGCCTGGGCAGCAGAGCAAGACTTGGTCTCCAAAAAAAAAAAAAAAAAGCAACAAATTATTCTGAGACTCAACTGGCTATGTGGAATTTACAATAAACTGCATGGTATATTTTCATTATTTGCAAATTGTGTGATACACATCGTTTATATAGTAAAATGTATGATAAGTCTTTTGTGTATATATATGGAATATACATATTCCACCTACACACACACACATACACACACACACACACAGAACAGTCGTTAAATGTTTACCAGCACGCCACTGCCCAGGGGTGAGAACATTCCTCCACAAACTGTACCCCTCCCCAGCACCCCACAAGCCTGGGGGATTTAAGGTCTTGACACTTAAAGCCTGGCCGAAAGCAAAGGGAGTGCATGGCATTTGGGAGAAAGAGCAGTGACCTGCCCCTTGGTAAACCCCTCTTCCTCTCCAGATCTCAGTTTCCCCATCTGAAAAATGGCCATCCTCCGAGGGCCCTCCCGCCGGCGCAGCTCTCAACGCACCTTCTGGATCATGACGCTGTACATGCACATGGACTGGAAACCCCGCGTATAGTAGAGCATGTTCGCCCAGCCCAGGGCCATGGCCAGCACGAGGCAGGCGAGGTACTCTTTGTAGGCAAACAAGTACAAGAAGACAGACAGTATCACAAGCACAGCTTGGATAAAACTGTTCAGGAGACACAGGAGACACGGGCCTTACTTACTTCTCAGCATCAGGGCAAAGATATGCAAATCCCCCAAACCTCCCTTAAACCCCCTGAACAGTCACCCCGGTGACGGATGCTGAAGAGACCAGAATCACGCTGCCTCAGATCCATTTGGCTACCATAGAATTCAGCCTGTAGAGACATCACCAGATGCCACTCACAGCCTGTGGTAAGCTGATTGCAGCTGGTGGGGACTTTAAAAAAAGAAAAAACACACATCCACAGGGCCGCAGAAGATTCTAGGGTACTGCCCGGGAGGCCATATATTTTTTAAATTACCCACACGGGCCTGGTGTAGTGGCTTTCGCCTGTAATCCCAACACTTTGGGGGGCTGAGATAGGAGAAACGCTTCAGGCCAGGAGTTCAGGACCAGCCTGAGTGACATAGTGAGACCTTGTCTCTACAAAAAAAAAAAAAAAAAGAAAAGAAAAATAATCTAAATCACCCACATAATTTCTGACTCCTGCATCGATTTGAGAACTACTGGAGTAGACCAAAGATGTGGTAAATGATTGTATTTTTAACCAAAATGACAAAAACTGCCAATATCTATACTTAAAAGCCAATCATAGCAAAAGTCCCCCAAACCCTACTTTTTAAATCGTGGTGTTTTTTGGGGGGGTCAGGGGGGCAGAGACAGGGTCTTGCTCTGTCACCTAGGCTGGAGTACAGTGGCATGAACTCTGCTCACTGCAACCTCCGCCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCACCCGCCACCACACCAGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTTCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAACGCGCCCAGCATTAAATCTTTTTAAAGTATGATGTATGCTAAGTGAAATAAGATAGGTGACTCCACTATATGACTGTACCTAAAATAGTCCAATTCACAGAGAAAGATGGAAGAATGGTGGTTACAGGGGGCCGGGAAAGGAGAGGAATAGGGGCTGTTGTTTAAGGGGTATGGAGTTTGAGTTTTACAGGACGAAAACAGTTCTAAAGACTGATTGCCCAACAACATGAATGTACTTCACAGTATTGATTTCTACGCTTAAAAAATGGGTGCAATGCTAACTTTTATGCTATGTGTATTTTACCACAATTAATTTTTTTTTTTTTTTTGAGATGTAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCATGATCTCGGCTCACTGCAGCCTCCGCCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGTGCATGCCACCACACACAAGGCTAATTTTTGTATTTTTTGTAGAGAGAGGGGATTTCACCAGACTGGTCTCAAACTCCTGACCTCAGATGATAGGCCCACCTTGGCCCACCAAAGTGCTGGGATTACAAGCATGACCCATCGTGCCCGGCCCACAGTTAAAATGTTTTTAAGTATAATATATCGCAAACATACAAAATCAATATCTACTCCTACACAGTCACATGCAGACATCTGCATAACATCCATTATGCAGACATCTGGATAAAAACACTGTCTTATAACATCAGACAGTTTCCAAAATTATAAAATAGCTAACCAAAGTCACAACACAGGCACGATTGTAAGAAAAACCATCTAATTCATCAACTGCATTTTAGACTGAAATGAAGAATGTCTCCCTCCACACTAACAAAACAAATAAGAAGCAGAAGAGGCCGGCGCAGGAGCTCACACCTGGAATCCCAGCACTCTGCAAGGCTGAGGTGGGCAGATCACTTGAGGTCAGGA
Task1_train_23224
A variant affecting Chromosome 17, within the gene TRPV3 (transient receptor potential cation channel subfamily V member 3), has been observed. Determine if it's benign or associated with disease.
Pathogenic; not provided
GTGCTTTTGAGGTTACTTGTCTCTATCATAGCCATATGGCAGGAATTCTAGAGCGATGTGGATCTGCATGTTTCTCCCTAACTCTATGTCCAGTAACATAATGTTGGTAGCTGGAAATTGGCCCTGAGAGGAGAACAGTAGTCCGCCCTTCTCTTCGATTTCACTTTCTGCAGTTTTGGTTGCCTGTGGTCAACTATGACCCAGAAATATTACACACAATACAATATTCTGAGAGAGACAACATTCACATACTTTTATTACAGTATATTGTTATCATTGTTCTGTTAGTTATTGCCATTAATCTCACTATGCCTAATTGATAAAATAAATTTTATAAATTCCACATAGCCAGTTGAGTCTTAGAATAATTTGTTGATTCCCCCCCCCACCCCCCAGCACTTTGGGAGGCCGAGGCGGACGGATCACCTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGGGGCGGGAGAATTGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACTATTGCACTCCAGCCTGGGCAACAGAGCGAGACTCAGTCACAAACAAAAAAAAAAAAAAAAAGCAAAAATTATTCTAAGACTCAACTGGCTAAGTGGAATTTACAATAAACTGTATTGTATAGTATATTTTCATTATTTGCATAGATGTATATGTATAGGAAAAAACATAGCATATTATATAATGTTTGGTACTATCTGCAGTTTCAGGCATTCATGGGGGGTCTTAGAACATCTCCCCCAAGAATAAGGGGGGACTACTGTATTTACATCATGAAAATTGGTAAATGCCACAAATCAGAGATTGATTGACTCATTGTTTTGTTGATATCTAGATCTAAATGATTTAAGACAGTGATGGAGAAACTATTAATCCAGTTTAAATTTTAAAATGTGTTCTGTCTGCAGCCTTTACATTATGTATAGCACAAAAATATCAACAGAATATTATTCTGGTATTTGCAAACTAGTATCCAATTCAGCAAAGAAGTTGCTCACATCATTGATAAACAAGTAAAGTTCAACATAAATCTTAATTGTTTCACTTCAATCACTGCTTATAAAGAAAACTCTCAACCAACATTCATGTCTGATAGCACTCTTTTGTCAATTGCAACCAAAAGTTGACAACAAAAACTAGAATTCAATAAAAAGCAACAAATAGGCCTGGCGCGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACAATCCTGGCCAACATGCTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAACATGGTGGTGCGTGCCTGTGATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTTTACTCTGGCCTGGGCAGCAGAGCAAGACTTGGTCTCCAAAAAAAAAAAAAAAAAGCAACAAATTATTCTGAGACTCAACTGGCTATGTGGAATTTACAATAAACTGCATGGTATATTTTCATTATTTGCAAATTGTGTGATACACATCGTTTATATAGTAAAATGTATGATAAGTCTTTTGTGTATATATATGGAATATACATATTCCACCTACACACACACACATACACACACACACACACAGAACAGTCGTTAAATGTTTACCAGCACGCCACTGCCCAGGGGTGAGAACATTCCTCCACAAACTGTACCCCTCCCCAGCACCCCACAAGCCTGGGGGATTTAAGGTCTTGACACTTAAAGCCTGGCCGAAAGCAAAGGGAGTGCATGGCATTTGGGAGAAAGAGCAGTGACCTGCCCCTTGGTAAACCCCTCTTCCTCTCCAGATCTCAGTTTCCCCATCTGAAAAATGGCCATCCTCCGAGGGCCCTCCCGCCGGCGCAGCTCTCAACGCACCTTCTGGATCATGACGCTGTACATGCCCATGGACTGGAAACCCCGCGTATAGTAGAGCATGTTCGCCCAGCCCAGGGCCATGGCCAGCACGAGGCAGGCGAGGTACTCTTTGTAGGCAAACAAGTACAAGAAGACAGACAGTATCACAAGCACAGCTTGGATAAAACTGTTCAGGAGACACAGGAGACACGGGCCTTACTTACTTCTCAGCATCAGGGCAAAGATATGCAAATCCCCCAAACCTCCCTTAAACCCCCTGAACAGTCACCCCGGTGACGGATGCTGAAGAGACCAGAATCACGCTGCCTCAGATCCATTTGGCTACCATAGAATTCAGCCTGTAGAGACATCACCAGATGCCACTCACAGCCTGTGGTAAGCTGATTGCAGCTGGTGGGGACTTTAAAAAAAGAAAAAACACACATCCACAGGGCCGCAGAAGATTCTAGGGTACTGCCCGGGAGGCCATATATTTTTTAAATTACCCACACGGGCCTGGTGTAGTGGCTTTCGCCTGTAATCCCAACACTTTGGGGGGCTGAGATAGGAGAAACGCTTCAGGCCAGGAGTTCAGGACCAGCCTGAGTGACATAGTGAGACCTTGTCTCTACAAAAAAAAAAAAAAAAAGAAAAGAAAAATAATCTAAATCACCCACATAATTTCTGACTCCTGCATCGATTTGAGAACTACTGGAGTAGACCAAAGATGTGGTAAATGATTGTATTTTTAACCAAAATGACAAAAACTGCCAATATCTATACTTAAAAGCCAATCATAGCAAAAGTCCCCCAAACCCTACTTTTTAAATCGTGGTGTTTTTTGGGGGGGTCAGGGGGGCAGAGACAGGGTCTTGCTCTGTCACCTAGGCTGGAGTACAGTGGCATGAACTCTGCTCACTGCAACCTCCGCCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCACCCGCCACCACACCAGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTTCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAACGCGCCCAGCATTAAATCTTTTTAAAGTATGATGTATGCTAAGTGAAATAAGATAGGTGACTCCACTATATGACTGTACCTAAAATAGTCCAATTCACAGAGAAAGATGGAAGAATGGTGGTTACAGGGGGCCGGGAAAGGAGAGGAATAGGGGCTGTTGTTTAAGGGGTATGGAGTTTGAGTTTTACAGGACGAAAACAGTTCTAAAGACTGATTGCCCAACAACATGAATGTACTTCACAGTATTGATTTCTACGCTTAAAAAATGGGTGCAATGCTAACTTTTATGCTATGTGTATTTTACCACAATTAATTTTTTTTTTTTTTTTGAGATGTAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCATGATCTCGGCTCACTGCAGCCTCCGCCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGTGCATGCCACCACACACAAGGCTAATTTTTGTATTTTTTGTAGAGAGAGGGGATTTCACCAGACTGGTCTCAAACTCCTGACCTCAGATGATAGGCCCACCTTGGCCCACCAAAGTGCTGGGATTACAAGCATGACCCATCGTGCCCGGCCCACAGTTAAAATGTTTTTAAGTATAATATATCGCAAACATACAAAATCAATATCTACTCCTACACAGTCACATGCAGACATCTGCATAACATCCATTATGCAGACATCTGGATAAAAACACTGTCTTATAACATCAGACAGTTTCCAAAATTATAAAATAGCTAACCAAAGTCACAACACAGGCACGATTGTAAGAAAAACCATCTAATTCATCAACTGCATTTTAGACTGAAATGAAGAATGTCTCCCTCCACACTAACAAAACAAATAAGAAGCAGAAGAGGCCGGCGCAGGAGCTCACACCTGGAATCCCAGCACTCTGCAAGGCTGAGGTGGGCAGATCACTTGAGGTCAGGA
GTGCTTTTGAGGTTACTTGTCTCTATCATAGCCATATGGCAGGAATTCTAGAGCGATGTGGATCTGCATGTTTCTCCCTAACTCTATGTCCAGTAACATAATGTTGGTAGCTGGAAATTGGCCCTGAGAGGAGAACAGTAGTCCGCCCTTCTCTTCGATTTCACTTTCTGCAGTTTTGGTTGCCTGTGGTCAACTATGACCCAGAAATATTACACACAATACAATATTCTGAGAGAGACAACATTCACATACTTTTATTACAGTATATTGTTATCATTGTTCTGTTAGTTATTGCCATTAATCTCACTATGCCTAATTGATAAAATAAATTTTATAAATTCCACATAGCCAGTTGAGTCTTAGAATAATTTGTTGATTCCCCCCCCCACCCCCCAGCACTTTGGGAGGCCGAGGCGGACGGATCACCTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGGGGCGGGAGAATTGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACTATTGCACTCCAGCCTGGGCAACAGAGCGAGACTCAGTCACAAACAAAAAAAAAAAAAAAAAGCAAAAATTATTCTAAGACTCAACTGGCTAAGTGGAATTTACAATAAACTGTATTGTATAGTATATTTTCATTATTTGCATAGATGTATATGTATAGGAAAAAACATAGCATATTATATAATGTTTGGTACTATCTGCAGTTTCAGGCATTCATGGGGGGTCTTAGAACATCTCCCCCAAGAATAAGGGGGGACTACTGTATTTACATCATGAAAATTGGTAAATGCCACAAATCAGAGATTGATTGACTCATTGTTTTGTTGATATCTAGATCTAAATGATTTAAGACAGTGATGGAGAAACTATTAATCCAGTTTAAATTTTAAAATGTGTTCTGTCTGCAGCCTTTACATTATGTATAGCACAAAAATATCAACAGAATATTATTCTGGTATTTGCAAACTAGTATCCAATTCAGCAAAGAAGTTGCTCACATCATTGATAAACAAGTAAAGTTCAACATAAATCTTAATTGTTTCACTTCAATCACTGCTTATAAAGAAAACTCTCAACCAACATTCATGTCTGATAGCACTCTTTTGTCAATTGCAACCAAAAGTTGACAACAAAAACTAGAATTCAATAAAAAGCAACAAATAGGCCTGGCGCGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACAATCCTGGCCAACATGCTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAACATGGTGGTGCGTGCCTGTGATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTTTACTCTGGCCTGGGCAGCAGAGCAAGACTTGGTCTCCAAAAAAAAAAAAAAAAAGCAACAAATTATTCTGAGACTCAACTGGCTATGTGGAATTTACAATAAACTGCATGGTATATTTTCATTATTTGCAAATTGTGTGATACACATCGTTTATATAGTAAAATGTATGATAAGTCTTTTGTGTATATATATGGAATATACATATTCCACCTACACACACACACATACACACACACACACACAGAACAGTCGTTAAATGTTTACCAGCACGCCACTGCCCAGGGGTGAGAACATTCCTCCACAAACTGTACCCCTCCCCAGCACCCCACAAGCCTGGGGGATTTAAGGTCTTGACACTTAAAGCCTGGCCGAAAGCAAAGGGAGTGCATGGCATTTGGGAGAAAGAGCAGTGACCTGCCCCTTGGTAAACCCCTCTTCCTCTCCAGATCTCAGTTTCCCCATCTGAAAAATGGCCATCCTCCGAGGGCCCTCCCGCCGGCGCAGCTCTCAACGCACCTTCTGGATCATGACGCTGTACATGCTCATGGACTGGAAACCCCGCGTATAGTAGAGCATGTTCGCCCAGCCCAGGGCCATGGCCAGCACGAGGCAGGCGAGGTACTCTTTGTAGGCAAACAAGTACAAGAAGACAGACAGTATCACAAGCACAGCTTGGATAAAACTGTTCAGGAGACACAGGAGACACGGGCCTTACTTACTTCTCAGCATCAGGGCAAAGATATGCAAATCCCCCAAACCTCCCTTAAACCCCCTGAACAGTCACCCCGGTGACGGATGCTGAAGAGACCAGAATCACGCTGCCTCAGATCCATTTGGCTACCATAGAATTCAGCCTGTAGAGACATCACCAGATGCCACTCACAGCCTGTGGTAAGCTGATTGCAGCTGGTGGGGACTTTAAAAAAAGAAAAAACACACATCCACAGGGCCGCAGAAGATTCTAGGGTACTGCCCGGGAGGCCATATATTTTTTAAATTACCCACACGGGCCTGGTGTAGTGGCTTTCGCCTGTAATCCCAACACTTTGGGGGGCTGAGATAGGAGAAACGCTTCAGGCCAGGAGTTCAGGACCAGCCTGAGTGACATAGTGAGACCTTGTCTCTACAAAAAAAAAAAAAAAAAGAAAAGAAAAATAATCTAAATCACCCACATAATTTCTGACTCCTGCATCGATTTGAGAACTACTGGAGTAGACCAAAGATGTGGTAAATGATTGTATTTTTAACCAAAATGACAAAAACTGCCAATATCTATACTTAAAAGCCAATCATAGCAAAAGTCCCCCAAACCCTACTTTTTAAATCGTGGTGTTTTTTGGGGGGGTCAGGGGGGCAGAGACAGGGTCTTGCTCTGTCACCTAGGCTGGAGTACAGTGGCATGAACTCTGCTCACTGCAACCTCCGCCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCACCCGCCACCACACCAGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTTCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAACGCGCCCAGCATTAAATCTTTTTAAAGTATGATGTATGCTAAGTGAAATAAGATAGGTGACTCCACTATATGACTGTACCTAAAATAGTCCAATTCACAGAGAAAGATGGAAGAATGGTGGTTACAGGGGGCCGGGAAAGGAGAGGAATAGGGGCTGTTGTTTAAGGGGTATGGAGTTTGAGTTTTACAGGACGAAAACAGTTCTAAAGACTGATTGCCCAACAACATGAATGTACTTCACAGTATTGATTTCTACGCTTAAAAAATGGGTGCAATGCTAACTTTTATGCTATGTGTATTTTACCACAATTAATTTTTTTTTTTTTTTTGAGATGTAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCATGATCTCGGCTCACTGCAGCCTCCGCCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGTGCATGCCACCACACACAAGGCTAATTTTTGTATTTTTTGTAGAGAGAGGGGATTTCACCAGACTGGTCTCAAACTCCTGACCTCAGATGATAGGCCCACCTTGGCCCACCAAAGTGCTGGGATTACAAGCATGACCCATCGTGCCCGGCCCACAGTTAAAATGTTTTTAAGTATAATATATCGCAAACATACAAAATCAATATCTACTCCTACACAGTCACATGCAGACATCTGCATAACATCCATTATGCAGACATCTGGATAAAAACACTGTCTTATAACATCAGACAGTTTCCAAAATTATAAAATAGCTAACCAAAGTCACAACACAGGCACGATTGTAAGAAAAACCATCTAATTCATCAACTGCATTTTAGACTGAAATGAAGAATGTCTCCCTCCACACTAACAAAACAAATAAGAAGCAGAAGAGGCCGGCGCAGGAGCTCACACCTGGAATCCCAGCACTCTGCAAGGCTGAGGTGGGCAGATCACTTGAGGTCAGGA
Task1_train_23225
A variant was discovered on Chromosome 17, affecting TRPV3 (transient receptor potential cation channel subfamily V member 3). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Olmsted syndrome 1
ACTTGTCTCTATCATAGCCATATGGCAGGAATTCTAGAGCGATGTGGATCTGCATGTTTCTCCCTAACTCTATGTCCAGTAACATAATGTTGGTAGCTGGAAATTGGCCCTGAGAGGAGAACAGTAGTCCGCCCTTCTCTTCGATTTCACTTTCTGCAGTTTTGGTTGCCTGTGGTCAACTATGACCCAGAAATATTACACACAATACAATATTCTGAGAGAGACAACATTCACATACTTTTATTACAGTATATTGTTATCATTGTTCTGTTAGTTATTGCCATTAATCTCACTATGCCTAATTGATAAAATAAATTTTATAAATTCCACATAGCCAGTTGAGTCTTAGAATAATTTGTTGATTCCCCCCCCCACCCCCCAGCACTTTGGGAGGCCGAGGCGGACGGATCACCTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGGGGCGGGAGAATTGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACTATTGCACTCCAGCCTGGGCAACAGAGCGAGACTCAGTCACAAACAAAAAAAAAAAAAAAAAGCAAAAATTATTCTAAGACTCAACTGGCTAAGTGGAATTTACAATAAACTGTATTGTATAGTATATTTTCATTATTTGCATAGATGTATATGTATAGGAAAAAACATAGCATATTATATAATGTTTGGTACTATCTGCAGTTTCAGGCATTCATGGGGGGTCTTAGAACATCTCCCCCAAGAATAAGGGGGGACTACTGTATTTACATCATGAAAATTGGTAAATGCCACAAATCAGAGATTGATTGACTCATTGTTTTGTTGATATCTAGATCTAAATGATTTAAGACAGTGATGGAGAAACTATTAATCCAGTTTAAATTTTAAAATGTGTTCTGTCTGCAGCCTTTACATTATGTATAGCACAAAAATATCAACAGAATATTATTCTGGTATTTGCAAACTAGTATCCAATTCAGCAAAGAAGTTGCTCACATCATTGATAAACAAGTAAAGTTCAACATAAATCTTAATTGTTTCACTTCAATCACTGCTTATAAAGAAAACTCTCAACCAACATTCATGTCTGATAGCACTCTTTTGTCAATTGCAACCAAAAGTTGACAACAAAAACTAGAATTCAATAAAAAGCAACAAATAGGCCTGGCGCGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACAATCCTGGCCAACATGCTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAACATGGTGGTGCGTGCCTGTGATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTTTACTCTGGCCTGGGCAGCAGAGCAAGACTTGGTCTCCAAAAAAAAAAAAAAAAAGCAACAAATTATTCTGAGACTCAACTGGCTATGTGGAATTTACAATAAACTGCATGGTATATTTTCATTATTTGCAAATTGTGTGATACACATCGTTTATATAGTAAAATGTATGATAAGTCTTTTGTGTATATATATGGAATATACATATTCCACCTACACACACACACATACACACACACACACACAGAACAGTCGTTAAATGTTTACCAGCACGCCACTGCCCAGGGGTGAGAACATTCCTCCACAAACTGTACCCCTCCCCAGCACCCCACAAGCCTGGGGGATTTAAGGTCTTGACACTTAAAGCCTGGCCGAAAGCAAAGGGAGTGCATGGCATTTGGGAGAAAGAGCAGTGACCTGCCCCTTGGTAAACCCCTCTTCCTCTCCAGATCTCAGTTTCCCCATCTGAAAAATGGCCATCCTCCGAGGGCCCTCCCGCCGGCGCAGCTCTCAACGCACCTTCTGGATCATGACGCTGTACATGCCCATGGACTGGAAACCCCGCGTATAGTAGAGCATGTTCGCCCAGCCCAGGGCCATGGCCAGCACGAGGCAGGCGAGGTACTCTTTGTAGGCAAACAAGTACAAGAAGACAGACAGTATCACAAGCACAGCTTGGATAAAACTGTTCAGGAGACACAGGAGACACGGGCCTTACTTACTTCTCAGCATCAGGGCAAAGATATGCAAATCCCCCAAACCTCCCTTAAACCCCCTGAACAGTCACCCCGGTGACGGATGCTGAAGAGACCAGAATCACGCTGCCTCAGATCCATTTGGCTACCATAGAATTCAGCCTGTAGAGACATCACCAGATGCCACTCACAGCCTGTGGTAAGCTGATTGCAGCTGGTGGGGACTTTAAAAAAAGAAAAAACACACATCCACAGGGCCGCAGAAGATTCTAGGGTACTGCCCGGGAGGCCATATATTTTTTAAATTACCCACACGGGCCTGGTGTAGTGGCTTTCGCCTGTAATCCCAACACTTTGGGGGGCTGAGATAGGAGAAACGCTTCAGGCCAGGAGTTCAGGACCAGCCTGAGTGACATAGTGAGACCTTGTCTCTACAAAAAAAAAAAAAAAAAGAAAAGAAAAATAATCTAAATCACCCACATAATTTCTGACTCCTGCATCGATTTGAGAACTACTGGAGTAGACCAAAGATGTGGTAAATGATTGTATTTTTAACCAAAATGACAAAAACTGCCAATATCTATACTTAAAAGCCAATCATAGCAAAAGTCCCCCAAACCCTACTTTTTAAATCGTGGTGTTTTTTGGGGGGGTCAGGGGGGCAGAGACAGGGTCTTGCTCTGTCACCTAGGCTGGAGTACAGTGGCATGAACTCTGCTCACTGCAACCTCCGCCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCACCCGCCACCACACCAGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTTCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAACGCGCCCAGCATTAAATCTTTTTAAAGTATGATGTATGCTAAGTGAAATAAGATAGGTGACTCCACTATATGACTGTACCTAAAATAGTCCAATTCACAGAGAAAGATGGAAGAATGGTGGTTACAGGGGGCCGGGAAAGGAGAGGAATAGGGGCTGTTGTTTAAGGGGTATGGAGTTTGAGTTTTACAGGACGAAAACAGTTCTAAAGACTGATTGCCCAACAACATGAATGTACTTCACAGTATTGATTTCTACGCTTAAAAAATGGGTGCAATGCTAACTTTTATGCTATGTGTATTTTACCACAATTAATTTTTTTTTTTTTTTTGAGATGTAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCATGATCTCGGCTCACTGCAGCCTCCGCCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGTGCATGCCACCACACACAAGGCTAATTTTTGTATTTTTTGTAGAGAGAGGGGATTTCACCAGACTGGTCTCAAACTCCTGACCTCAGATGATAGGCCCACCTTGGCCCACCAAAGTGCTGGGATTACAAGCATGACCCATCGTGCCCGGCCCACAGTTAAAATGTTTTTAAGTATAATATATCGCAAACATACAAAATCAATATCTACTCCTACACAGTCACATGCAGACATCTGCATAACATCCATTATGCAGACATCTGGATAAAAACACTGTCTTATAACATCAGACAGTTTCCAAAATTATAAAATAGCTAACCAAAGTCACAACACAGGCACGATTGTAAGAAAAACCATCTAATTCATCAACTGCATTTTAGACTGAAATGAAGAATGTCTCCCTCCACACTAACAAAACAAATAAGAAGCAGAAGAGGCCGGCGCAGGAGCTCACACCTGGAATCCCAGCACTCTGCAAGGCTGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCC
ACTTGTCTCTATCATAGCCATATGGCAGGAATTCTAGAGCGATGTGGATCTGCATGTTTCTCCCTAACTCTATGTCCAGTAACATAATGTTGGTAGCTGGAAATTGGCCCTGAGAGGAGAACAGTAGTCCGCCCTTCTCTTCGATTTCACTTTCTGCAGTTTTGGTTGCCTGTGGTCAACTATGACCCAGAAATATTACACACAATACAATATTCTGAGAGAGACAACATTCACATACTTTTATTACAGTATATTGTTATCATTGTTCTGTTAGTTATTGCCATTAATCTCACTATGCCTAATTGATAAAATAAATTTTATAAATTCCACATAGCCAGTTGAGTCTTAGAATAATTTGTTGATTCCCCCCCCCACCCCCCAGCACTTTGGGAGGCCGAGGCGGACGGATCACCTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGGGGCGGGAGAATTGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACTATTGCACTCCAGCCTGGGCAACAGAGCGAGACTCAGTCACAAACAAAAAAAAAAAAAAAAAGCAAAAATTATTCTAAGACTCAACTGGCTAAGTGGAATTTACAATAAACTGTATTGTATAGTATATTTTCATTATTTGCATAGATGTATATGTATAGGAAAAAACATAGCATATTATATAATGTTTGGTACTATCTGCAGTTTCAGGCATTCATGGGGGGTCTTAGAACATCTCCCCCAAGAATAAGGGGGGACTACTGTATTTACATCATGAAAATTGGTAAATGCCACAAATCAGAGATTGATTGACTCATTGTTTTGTTGATATCTAGATCTAAATGATTTAAGACAGTGATGGAGAAACTATTAATCCAGTTTAAATTTTAAAATGTGTTCTGTCTGCAGCCTTTACATTATGTATAGCACAAAAATATCAACAGAATATTATTCTGGTATTTGCAAACTAGTATCCAATTCAGCAAAGAAGTTGCTCACATCATTGATAAACAAGTAAAGTTCAACATAAATCTTAATTGTTTCACTTCAATCACTGCTTATAAAGAAAACTCTCAACCAACATTCATGTCTGATAGCACTCTTTTGTCAATTGCAACCAAAAGTTGACAACAAAAACTAGAATTCAATAAAAAGCAACAAATAGGCCTGGCGCGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACAATCCTGGCCAACATGCTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAACATGGTGGTGCGTGCCTGTGATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTTTACTCTGGCCTGGGCAGCAGAGCAAGACTTGGTCTCCAAAAAAAAAAAAAAAAAGCAACAAATTATTCTGAGACTCAACTGGCTATGTGGAATTTACAATAAACTGCATGGTATATTTTCATTATTTGCAAATTGTGTGATACACATCGTTTATATAGTAAAATGTATGATAAGTCTTTTGTGTATATATATGGAATATACATATTCCACCTACACACACACACATACACACACACACACACAGAACAGTCGTTAAATGTTTACCAGCACGCCACTGCCCAGGGGTGAGAACATTCCTCCACAAACTGTACCCCTCCCCAGCACCCCACAAGCCTGGGGGATTTAAGGTCTTGACACTTAAAGCCTGGCCGAAAGCAAAGGGAGTGCATGGCATTTGGGAGAAAGAGCAGTGACCTGCCCCTTGGTAAACCCCTCTTCCTCTCCAGATCTCAGTTTCCCCATCTGAAAAATGGCCATCCTCCGAGGGCCCTCCCGCCGGCGCAGCTCTCAACGCACCTTCTGGATCATGACGCTGTACATGCCCATGGACTGGAAAACCCGCGTATAGTAGAGCATGTTCGCCCAGCCCAGGGCCATGGCCAGCACGAGGCAGGCGAGGTACTCTTTGTAGGCAAACAAGTACAAGAAGACAGACAGTATCACAAGCACAGCTTGGATAAAACTGTTCAGGAGACACAGGAGACACGGGCCTTACTTACTTCTCAGCATCAGGGCAAAGATATGCAAATCCCCCAAACCTCCCTTAAACCCCCTGAACAGTCACCCCGGTGACGGATGCTGAAGAGACCAGAATCACGCTGCCTCAGATCCATTTGGCTACCATAGAATTCAGCCTGTAGAGACATCACCAGATGCCACTCACAGCCTGTGGTAAGCTGATTGCAGCTGGTGGGGACTTTAAAAAAAGAAAAAACACACATCCACAGGGCCGCAGAAGATTCTAGGGTACTGCCCGGGAGGCCATATATTTTTTAAATTACCCACACGGGCCTGGTGTAGTGGCTTTCGCCTGTAATCCCAACACTTTGGGGGGCTGAGATAGGAGAAACGCTTCAGGCCAGGAGTTCAGGACCAGCCTGAGTGACATAGTGAGACCTTGTCTCTACAAAAAAAAAAAAAAAAAGAAAAGAAAAATAATCTAAATCACCCACATAATTTCTGACTCCTGCATCGATTTGAGAACTACTGGAGTAGACCAAAGATGTGGTAAATGATTGTATTTTTAACCAAAATGACAAAAACTGCCAATATCTATACTTAAAAGCCAATCATAGCAAAAGTCCCCCAAACCCTACTTTTTAAATCGTGGTGTTTTTTGGGGGGGTCAGGGGGGCAGAGACAGGGTCTTGCTCTGTCACCTAGGCTGGAGTACAGTGGCATGAACTCTGCTCACTGCAACCTCCGCCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCACCCGCCACCACACCAGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTTCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAACGCGCCCAGCATTAAATCTTTTTAAAGTATGATGTATGCTAAGTGAAATAAGATAGGTGACTCCACTATATGACTGTACCTAAAATAGTCCAATTCACAGAGAAAGATGGAAGAATGGTGGTTACAGGGGGCCGGGAAAGGAGAGGAATAGGGGCTGTTGTTTAAGGGGTATGGAGTTTGAGTTTTACAGGACGAAAACAGTTCTAAAGACTGATTGCCCAACAACATGAATGTACTTCACAGTATTGATTTCTACGCTTAAAAAATGGGTGCAATGCTAACTTTTATGCTATGTGTATTTTACCACAATTAATTTTTTTTTTTTTTTTGAGATGTAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCATGATCTCGGCTCACTGCAGCCTCCGCCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGTGCATGCCACCACACACAAGGCTAATTTTTGTATTTTTTGTAGAGAGAGGGGATTTCACCAGACTGGTCTCAAACTCCTGACCTCAGATGATAGGCCCACCTTGGCCCACCAAAGTGCTGGGATTACAAGCATGACCCATCGTGCCCGGCCCACAGTTAAAATGTTTTTAAGTATAATATATCGCAAACATACAAAATCAATATCTACTCCTACACAGTCACATGCAGACATCTGCATAACATCCATTATGCAGACATCTGGATAAAAACACTGTCTTATAACATCAGACAGTTTCCAAAATTATAAAATAGCTAACCAAAGTCACAACACAGGCACGATTGTAAGAAAAACCATCTAATTCATCAACTGCATTTTAGACTGAAATGAAGAATGTCTCCCTCCACACTAACAAAACAAATAAGAAGCAGAAGAGGCCGGCGCAGGAGCTCACACCTGGAATCCCAGCACTCTGCAAGGCTGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCC
Task1_train_23226
This variant lies on Chromosome 17 and affects the gene TRPV3 (transient receptor potential cation channel subfamily V member 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; not provided
ACTTGTCTCTATCATAGCCATATGGCAGGAATTCTAGAGCGATGTGGATCTGCATGTTTCTCCCTAACTCTATGTCCAGTAACATAATGTTGGTAGCTGGAAATTGGCCCTGAGAGGAGAACAGTAGTCCGCCCTTCTCTTCGATTTCACTTTCTGCAGTTTTGGTTGCCTGTGGTCAACTATGACCCAGAAATATTACACACAATACAATATTCTGAGAGAGACAACATTCACATACTTTTATTACAGTATATTGTTATCATTGTTCTGTTAGTTATTGCCATTAATCTCACTATGCCTAATTGATAAAATAAATTTTATAAATTCCACATAGCCAGTTGAGTCTTAGAATAATTTGTTGATTCCCCCCCCCACCCCCCAGCACTTTGGGAGGCCGAGGCGGACGGATCACCTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGGGGCGGGAGAATTGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACTATTGCACTCCAGCCTGGGCAACAGAGCGAGACTCAGTCACAAACAAAAAAAAAAAAAAAAAGCAAAAATTATTCTAAGACTCAACTGGCTAAGTGGAATTTACAATAAACTGTATTGTATAGTATATTTTCATTATTTGCATAGATGTATATGTATAGGAAAAAACATAGCATATTATATAATGTTTGGTACTATCTGCAGTTTCAGGCATTCATGGGGGGTCTTAGAACATCTCCCCCAAGAATAAGGGGGGACTACTGTATTTACATCATGAAAATTGGTAAATGCCACAAATCAGAGATTGATTGACTCATTGTTTTGTTGATATCTAGATCTAAATGATTTAAGACAGTGATGGAGAAACTATTAATCCAGTTTAAATTTTAAAATGTGTTCTGTCTGCAGCCTTTACATTATGTATAGCACAAAAATATCAACAGAATATTATTCTGGTATTTGCAAACTAGTATCCAATTCAGCAAAGAAGTTGCTCACATCATTGATAAACAAGTAAAGTTCAACATAAATCTTAATTGTTTCACTTCAATCACTGCTTATAAAGAAAACTCTCAACCAACATTCATGTCTGATAGCACTCTTTTGTCAATTGCAACCAAAAGTTGACAACAAAAACTAGAATTCAATAAAAAGCAACAAATAGGCCTGGCGCGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACAATCCTGGCCAACATGCTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAACATGGTGGTGCGTGCCTGTGATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTTTACTCTGGCCTGGGCAGCAGAGCAAGACTTGGTCTCCAAAAAAAAAAAAAAAAAGCAACAAATTATTCTGAGACTCAACTGGCTATGTGGAATTTACAATAAACTGCATGGTATATTTTCATTATTTGCAAATTGTGTGATACACATCGTTTATATAGTAAAATGTATGATAAGTCTTTTGTGTATATATATGGAATATACATATTCCACCTACACACACACACATACACACACACACACACAGAACAGTCGTTAAATGTTTACCAGCACGCCACTGCCCAGGGGTGAGAACATTCCTCCACAAACTGTACCCCTCCCCAGCACCCCACAAGCCTGGGGGATTTAAGGTCTTGACACTTAAAGCCTGGCCGAAAGCAAAGGGAGTGCATGGCATTTGGGAGAAAGAGCAGTGACCTGCCCCTTGGTAAACCCCTCTTCCTCTCCAGATCTCAGTTTCCCCATCTGAAAAATGGCCATCCTCCGAGGGCCCTCCCGCCGGCGCAGCTCTCAACGCACCTTCTGGATCATGACGCTGTACATGCCCATGGACTGGAAACCCCGCGTATAGTAGAGCATGTTCGCCCAGCCCAGGGCCATGGCCAGCACGAGGCAGGCGAGGTACTCTTTGTAGGCAAACAAGTACAAGAAGACAGACAGTATCACAAGCACAGCTTGGATAAAACTGTTCAGGAGACACAGGAGACACGGGCCTTACTTACTTCTCAGCATCAGGGCAAAGATATGCAAATCCCCCAAACCTCCCTTAAACCCCCTGAACAGTCACCCCGGTGACGGATGCTGAAGAGACCAGAATCACGCTGCCTCAGATCCATTTGGCTACCATAGAATTCAGCCTGTAGAGACATCACCAGATGCCACTCACAGCCTGTGGTAAGCTGATTGCAGCTGGTGGGGACTTTAAAAAAAGAAAAAACACACATCCACAGGGCCGCAGAAGATTCTAGGGTACTGCCCGGGAGGCCATATATTTTTTAAATTACCCACACGGGCCTGGTGTAGTGGCTTTCGCCTGTAATCCCAACACTTTGGGGGGCTGAGATAGGAGAAACGCTTCAGGCCAGGAGTTCAGGACCAGCCTGAGTGACATAGTGAGACCTTGTCTCTACAAAAAAAAAAAAAAAAAGAAAAGAAAAATAATCTAAATCACCCACATAATTTCTGACTCCTGCATCGATTTGAGAACTACTGGAGTAGACCAAAGATGTGGTAAATGATTGTATTTTTAACCAAAATGACAAAAACTGCCAATATCTATACTTAAAAGCCAATCATAGCAAAAGTCCCCCAAACCCTACTTTTTAAATCGTGGTGTTTTTTGGGGGGGTCAGGGGGGCAGAGACAGGGTCTTGCTCTGTCACCTAGGCTGGAGTACAGTGGCATGAACTCTGCTCACTGCAACCTCCGCCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCACCCGCCACCACACCAGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTTCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAACGCGCCCAGCATTAAATCTTTTTAAAGTATGATGTATGCTAAGTGAAATAAGATAGGTGACTCCACTATATGACTGTACCTAAAATAGTCCAATTCACAGAGAAAGATGGAAGAATGGTGGTTACAGGGGGCCGGGAAAGGAGAGGAATAGGGGCTGTTGTTTAAGGGGTATGGAGTTTGAGTTTTACAGGACGAAAACAGTTCTAAAGACTGATTGCCCAACAACATGAATGTACTTCACAGTATTGATTTCTACGCTTAAAAAATGGGTGCAATGCTAACTTTTATGCTATGTGTATTTTACCACAATTAATTTTTTTTTTTTTTTTGAGATGTAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCATGATCTCGGCTCACTGCAGCCTCCGCCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGTGCATGCCACCACACACAAGGCTAATTTTTGTATTTTTTGTAGAGAGAGGGGATTTCACCAGACTGGTCTCAAACTCCTGACCTCAGATGATAGGCCCACCTTGGCCCACCAAAGTGCTGGGATTACAAGCATGACCCATCGTGCCCGGCCCACAGTTAAAATGTTTTTAAGTATAATATATCGCAAACATACAAAATCAATATCTACTCCTACACAGTCACATGCAGACATCTGCATAACATCCATTATGCAGACATCTGGATAAAAACACTGTCTTATAACATCAGACAGTTTCCAAAATTATAAAATAGCTAACCAAAGTCACAACACAGGCACGATTGTAAGAAAAACCATCTAATTCATCAACTGCATTTTAGACTGAAATGAAGAATGTCTCCCTCCACACTAACAAAACAAATAAGAAGCAGAAGAGGCCGGCGCAGGAGCTCACACCTGGAATCCCAGCACTCTGCAAGGCTGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCC
ACTTGTCTCTATCATAGCCATATGGCAGGAATTCTAGAGCGATGTGGATCTGCATGTTTCTCCCTAACTCTATGTCCAGTAACATAATGTTGGTAGCTGGAAATTGGCCCTGAGAGGAGAACAGTAGTCCGCCCTTCTCTTCGATTTCACTTTCTGCAGTTTTGGTTGCCTGTGGTCAACTATGACCCAGAAATATTACACACAATACAATATTCTGAGAGAGACAACATTCACATACTTTTATTACAGTATATTGTTATCATTGTTCTGTTAGTTATTGCCATTAATCTCACTATGCCTAATTGATAAAATAAATTTTATAAATTCCACATAGCCAGTTGAGTCTTAGAATAATTTGTTGATTCCCCCCCCCACCCCCCAGCACTTTGGGAGGCCGAGGCGGACGGATCACCTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGGGGCGGGAGAATTGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACTATTGCACTCCAGCCTGGGCAACAGAGCGAGACTCAGTCACAAACAAAAAAAAAAAAAAAAAGCAAAAATTATTCTAAGACTCAACTGGCTAAGTGGAATTTACAATAAACTGTATTGTATAGTATATTTTCATTATTTGCATAGATGTATATGTATAGGAAAAAACATAGCATATTATATAATGTTTGGTACTATCTGCAGTTTCAGGCATTCATGGGGGGTCTTAGAACATCTCCCCCAAGAATAAGGGGGGACTACTGTATTTACATCATGAAAATTGGTAAATGCCACAAATCAGAGATTGATTGACTCATTGTTTTGTTGATATCTAGATCTAAATGATTTAAGACAGTGATGGAGAAACTATTAATCCAGTTTAAATTTTAAAATGTGTTCTGTCTGCAGCCTTTACATTATGTATAGCACAAAAATATCAACAGAATATTATTCTGGTATTTGCAAACTAGTATCCAATTCAGCAAAGAAGTTGCTCACATCATTGATAAACAAGTAAAGTTCAACATAAATCTTAATTGTTTCACTTCAATCACTGCTTATAAAGAAAACTCTCAACCAACATTCATGTCTGATAGCACTCTTTTGTCAATTGCAACCAAAAGTTGACAACAAAAACTAGAATTCAATAAAAAGCAACAAATAGGCCTGGCGCGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACAATCCTGGCCAACATGCTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAACATGGTGGTGCGTGCCTGTGATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTTTACTCTGGCCTGGGCAGCAGAGCAAGACTTGGTCTCCAAAAAAAAAAAAAAAAAGCAACAAATTATTCTGAGACTCAACTGGCTATGTGGAATTTACAATAAACTGCATGGTATATTTTCATTATTTGCAAATTGTGTGATACACATCGTTTATATAGTAAAATGTATGATAAGTCTTTTGTGTATATATATGGAATATACATATTCCACCTACACACACACACATACACACACACACACACAGAACAGTCGTTAAATGTTTACCAGCACGCCACTGCCCAGGGGTGAGAACATTCCTCCACAAACTGTACCCCTCCCCAGCACCCCACAAGCCTGGGGGATTTAAGGTCTTGACACTTAAAGCCTGGCCGAAAGCAAAGGGAGTGCATGGCATTTGGGAGAAAGAGCAGTGACCTGCCCCTTGGTAAACCCCTCTTCCTCTCCAGATCTCAGTTTCCCCATCTGAAAAATGGCCATCCTCCGAGGGCCCTCCCGCCGGCGCAGCTCTCAACGCACCTTCTGGATCATGACGCTGTACATGCCCATGGACTGGAAATCCCGCGTATAGTAGAGCATGTTCGCCCAGCCCAGGGCCATGGCCAGCACGAGGCAGGCGAGGTACTCTTTGTAGGCAAACAAGTACAAGAAGACAGACAGTATCACAAGCACAGCTTGGATAAAACTGTTCAGGAGACACAGGAGACACGGGCCTTACTTACTTCTCAGCATCAGGGCAAAGATATGCAAATCCCCCAAACCTCCCTTAAACCCCCTGAACAGTCACCCCGGTGACGGATGCTGAAGAGACCAGAATCACGCTGCCTCAGATCCATTTGGCTACCATAGAATTCAGCCTGTAGAGACATCACCAGATGCCACTCACAGCCTGTGGTAAGCTGATTGCAGCTGGTGGGGACTTTAAAAAAAGAAAAAACACACATCCACAGGGCCGCAGAAGATTCTAGGGTACTGCCCGGGAGGCCATATATTTTTTAAATTACCCACACGGGCCTGGTGTAGTGGCTTTCGCCTGTAATCCCAACACTTTGGGGGGCTGAGATAGGAGAAACGCTTCAGGCCAGGAGTTCAGGACCAGCCTGAGTGACATAGTGAGACCTTGTCTCTACAAAAAAAAAAAAAAAAAGAAAAGAAAAATAATCTAAATCACCCACATAATTTCTGACTCCTGCATCGATTTGAGAACTACTGGAGTAGACCAAAGATGTGGTAAATGATTGTATTTTTAACCAAAATGACAAAAACTGCCAATATCTATACTTAAAAGCCAATCATAGCAAAAGTCCCCCAAACCCTACTTTTTAAATCGTGGTGTTTTTTGGGGGGGTCAGGGGGGCAGAGACAGGGTCTTGCTCTGTCACCTAGGCTGGAGTACAGTGGCATGAACTCTGCTCACTGCAACCTCCGCCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCACCCGCCACCACACCAGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTTCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAACGCGCCCAGCATTAAATCTTTTTAAAGTATGATGTATGCTAAGTGAAATAAGATAGGTGACTCCACTATATGACTGTACCTAAAATAGTCCAATTCACAGAGAAAGATGGAAGAATGGTGGTTACAGGGGGCCGGGAAAGGAGAGGAATAGGGGCTGTTGTTTAAGGGGTATGGAGTTTGAGTTTTACAGGACGAAAACAGTTCTAAAGACTGATTGCCCAACAACATGAATGTACTTCACAGTATTGATTTCTACGCTTAAAAAATGGGTGCAATGCTAACTTTTATGCTATGTGTATTTTACCACAATTAATTTTTTTTTTTTTTTTGAGATGTAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCATGATCTCGGCTCACTGCAGCCTCCGCCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGTGCATGCCACCACACACAAGGCTAATTTTTGTATTTTTTGTAGAGAGAGGGGATTTCACCAGACTGGTCTCAAACTCCTGACCTCAGATGATAGGCCCACCTTGGCCCACCAAAGTGCTGGGATTACAAGCATGACCCATCGTGCCCGGCCCACAGTTAAAATGTTTTTAAGTATAATATATCGCAAACATACAAAATCAATATCTACTCCTACACAGTCACATGCAGACATCTGCATAACATCCATTATGCAGACATCTGGATAAAAACACTGTCTTATAACATCAGACAGTTTCCAAAATTATAAAATAGCTAACCAAAGTCACAACACAGGCACGATTGTAAGAAAAACCATCTAATTCATCAACTGCATTTTAGACTGAAATGAAGAATGTCTCCCTCCACACTAACAAAACAAATAAGAAGCAGAAGAGGCCGGCGCAGGAGCTCACACCTGGAATCCCAGCACTCTGCAAGGCTGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCC
Task1_train_23227
Here is a mutation in TRPV3 (transient receptor potential cation channel subfamily V member 3) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; not provided
AAGAAACAGTGCACCCTCTTCATGGCCCTCAGCAGGGGAGCTGAGCAGAGGGTGCTTCCCCAGGACCAAGACTCAGTGAGGGTTGAATGCACAAAGGCCCAGCTAGAGTCCAGGTGGCGGATCTGAAAGGGGACCTGTGCCTGGGGGGCGTAGGCACCTCCACGGTGAAGGTGAACGCTCCCTCAAATCTTCTCACCTCCCTCACTCCTTACCCCATCCTCACCCCAGAACCTGCAAAGCGGTACTACCACTACAGCCGCCTTCCATTCCCCACATCCAGCCTAGCGTTCCAGCCTCCGAGCCTTTGCTCATGCTGTTCCCCATATCCACCCTGTAATGACCTTGTCCTCATCGTCCTCGTGCCCAATCCTACCCCACCAGAGTAAGTGCCATCTCTGCCTTCAAGCATCTCTACCATTCCCTGTCCCCAGATAAAAGTCACCTCCCTTCCTCTGAACACTGATCTGAACCCAGCTTAGGGTCTTTTTCGGTCTATCATAAAGTCTTGATATTTATGCCTATGCTATGTCCCCAACCAGGCTGTGAATTCAAAGAGGGCAAACTCGTCCCAACCCTGTCACCTCCTCCAGGGCCACACATATATAGAAGGTGCTCAGATTATATGTGTTGATTCATTGGATGGATGGAAGGATGGATGGATGGATGGATGGATGGACGGATGGACAGATGGAGAGATGGAAAGATGGTTGGATAAAGGATAGAAGGATGGTCGGTAAGGATGAGTGGACATGTGAATGGATGAATGAGTGGCTGGGTCCATGAAAGAGGGCAGGTGATCGGATGGGTGGATGGGGGTGGAAGAGGACAAGGGACACTGAGTGGCTGGGAAGGTAGATAAATGGCGGATAGTTGGGCAGATGGATAGAGAAGTAGATGGATGAAGTAGGTAGGATAGGCCAGCCTTATCCATTTTTTCCCATGTTATAACTCAGAAAGGTAAGGCTTGGGAAGGAAACGCCTCCCCAGAACCCCCCAGCAGTAATGGCAGAGCAGAGAGGGATGGAGGCTGTCACCTGCCTGCCTCGCGGGGCGGTCTGGAAGGGCCGGGTGGCCCACTTACCTCTTTCACAGAGATGCACATGGCCCAGATGAGCACAAACATCCTCCCTAGGAGCTGCAGCCACCCCATCTTGTGCGTCAGGGCCAAGGGGTGCGGGATGGCCTGCAGGGAAAGAAGAGGGGTGGTCAGTATAGGAAGCAAGGAGGACAGGGCTGGCACCAACTCTAGAGGGACCAAAACCCAGGTGAAACACTCAAGCCGGGCCAGAGACCAGCATGAAACCTGATCTCTGTACAGGGCAAGAGAAGGAAGAGCAGCTCCCTGACCCCAACTCTCCTCACCCTTGATGGAAACCCAGAACTCTACAACGAAGAATATCATCCAATCCGTGCTAACAACCCTCACACTCCATTGCAATAGCCTTTCCGGAACCCATCCATATCCAGGCACTCAACATGGCCTCACAGCACCGTTAAATAAAGCCGAGGCTCTGTGCCCCACGTGACGCATGGGAAACCGAAGCCCAGCAGGCAGGGAGAGCTTATCCTCCTCCCGTTTCCTGCAGCCCTCACAGCAGAAACACCCAGCTAGTTCTATATTTACAGACAGAGACCCTGTGCAGGGCCTGAGTCTCCGAATTCTCCAACTTTCCTCCCAGCAAGGGTCTGCCCTTGGGACTCGGCACCTGGGGCTTAGCCCAGGCTAAGCACTGAAGACATATTCAGTTCCCTGGGAAGCGTGAAGGACAACTGGGGGACCCCGCCCAATCTCCTGGTCTCTCTGGGCCTCAGTTTTCCCACCTGCACGTGGGGCAGCTCCAAGCCCCTCCAGCTCTGACGGCCCCATTTTCCCCCTCCAAGGGGCCCACGTACCTCCTCCTCCCGGGGGCGGTAGTACGAGACGAGGGTCAGGGTGATGTTGTAGAAGAAATAAAAGCAGAAGGACAGAAAGAACATGTGCTTGGCAAACTTCTTCCACTTCATATGCAGCAGCGTGTGCAGCGGCTCCAGGGTCAGCATCTCATGCCGGTTCTAGGGGTAGAATGCCACCAGTCACCATGGAGATGAGGGAGAGAGGGAGGGACCGTTTTCTAAAGGCCTGCGGGAGCTCTGAGTCAGTGCTGCAGAAGGGGCCCATCATTATGCCCGATGGACTGGTCTGGTTGGAAATGCTGGGAGGGTGATTTCCGGCTCCTGAGGCTCCTCCCCAGGGTACTAGGGCAGCAGTCAGAGGCCGCAGGAGCCCGGGCTTGCAGCAGGAGGACCCGATGCACAGCAGAAAGTGGAGGATAGAAGCGGGCAGGAGGTGGTGGCAGGGGTTCCAGCCCCAGTTTGCTCCTCCTTTGCTGTGTGACTTTAGGACAGACCCTGACCCTCTCTGGGCCTCAGACTCCTCACCTATAAAACTGCTAACAATCCCTGCCCTACCAACCAGGCTGCTGTGAGGGTCTGGGAAGACCCAAGGCAAGGGGACTCTGGGAAGCATGACTCTTAGTAAAGTATGAAGGAGGAAGACCCAGCCTGCTGCCTCACTGCCCCCAAGAGCTGAACACCTCTCATAGCTGCTCCTCTCTTCACCTCCAGTTGCACCGAACTCTCCCCTCTAGCCTCCTCCAGGAAGGCCCCCCGATTGCTCCTCAGTGCACTCTCTGACCCTCATTTGGGACCAGGTTTTGGGGAAGAAAGAATTCTAAGCCTGGCCGTATACACCAACGGGGGGTGGGAGAGAAACAATATGGAAAGGATCAACCCCAATCACCCCATCACCCACACCCACACCCAAACAGCCCTGGATACTCGGTCCAGAAGACCTCCCGCCCACCGCCCCCGCCACCACCACTCAGGTCTACAGTCCAAGGTCAATCAGGAAGAGTCGGGCCCAGCATCTGTCCCAGGCCTCGCCTTTTCTGTGCCTGACTCTGCTCACTGAGGCAACAGAGTGGGGTATGCAGATGCCGAGGGATGGAGCTGGCAGCACTGGGTCTTCCCAGCGTCCTCTCAGCCCCTGGCCTGAGGTCCAGCCCTCTTCTCCCTGCCCTTCCCCGCCTGTGCAGGAGACCCACGTCGATGTTGGTGTTGTAGACAGTGATTTCCAGCACTGAGTTGTCCGTGGTGGTGTCCACGTTGGTGAGGTCGTAGAGGGAGGATGACACGGGTCCGTACGCCCAGTCGGTGAACTTCCTGGACAGGCTCCGGAGCCGCTTCTCCTTGATCTCACGACTGAGGATGTACTTCAGGATCTGGGACAGGAGGAGGAACAACCATCAGCTGCAGAACAGGGGCTTAAGGCCAACAGGGCTGGACCAGCCAGAGGCTGGCTGGGCCCAGGGGATACACCCGCCCAGAATGGGTGGAGACCTGCCTCTGCGCCTGGCGCCATGGCCCCTGGGCCCCGTCTTTATCTGTGGAATGCGCACAAAGCTTGCTGTTCCGCCCATCTCACTGGGGGTTGTGAATACCAGGGACAAAGGGTGTGAAGGTTCTTCGCAGGCTGCAGCAAGCTGCACAATCAGCTTGAAATGCCTCACGCCAGCTGGGGACCCGGTTCGGTGAAAAATCCAGGCACTGATGATTTTTTAGAAACAGTTTCCATTTGCTCTGGACTTGAGAAGAAGCCAGAAGTGTTCTCAGCGTCCCCAGCCCACCCTAAGCCAAGACTCCTCCAGCTGTGGCTCACCACTCTGGCCAGGCAGGTGGTGACGAGAGACACCACGCCCTACAGGGAGGCCCGTGGGACTTCGGTAGGCCAGTGATCCTCAAACTCTGCTGCATGTTAGGGCTGCTGGGAAACTTAGAAATTCCCACAGCATGGCCAGGTGCAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGGAATCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTAACCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTCGCTTGAACCTGGGAGGTGGAGGTTGCCGTGAGCCATGATTGCGCCACTGCACTCCAGCCTGGGCAATGA
AAGAAACAGTGCACCCTCTTCATGGCCCTCAGCAGGGGAGCTGAGCAGAGGGTGCTTCCCCAGGACCAAGACTCAGTGAGGGTTGAATGCACAAAGGCCCAGCTAGAGTCCAGGTGGCGGATCTGAAAGGGGACCTGTGCCTGGGGGGCGTAGGCACCTCCACGGTGAAGGTGAACGCTCCCTCAAATCTTCTCACCTCCCTCACTCCTTACCCCATCCTCACCCCAGAACCTGCAAAGCGGTACTACCACTACAGCCGCCTTCCATTCCCCACATCCAGCCTAGCGTTCCAGCCTCCGAGCCTTTGCTCATGCTGTTCCCCATATCCACCCTGTAATGACCTTGTCCTCATCGTCCTCGTGCCCAATCCTACCCCACCAGAGTAAGTGCCATCTCTGCCTTCAAGCATCTCTACCATTCCCTGTCCCCAGATAAAAGTCACCTCCCTTCCTCTGAACACTGATCTGAACCCAGCTTAGGGTCTTTTTCGGTCTATCATAAAGTCTTGATATTTATGCCTATGCTATGTCCCCAACCAGGCTGTGAATTCAAAGAGGGCAAACTCGTCCCAACCCTGTCACCTCCTCCAGGGCCACACATATATAGAAGGTGCTCAGATTATATGTGTTGATTCATTGGATGGATGGAAGGATGGATGGATGGATGGATGGATGGACGGATGGACAGATGGAGAGATGGAAAGATGGTTGGATAAAGGATAGAAGGATGGTCGGTAAGGATGAGTGGACATGTGAATGGATGAATGAGTGGCTGGGTCCATGAAAGAGGGCAGGTGATCGGATGGGTGGATGGGGGTGGAAGAGGACAAGGGACACTGAGTGGCTGGGAAGGTAGATAAATGGCGGATAGTTGGGCAGATGGATAGAGAAGTAGATGGATGAAGTAGGTAGGATAGGCCAGCCTTATCCATTTTTTCCCATGTTATAACTCAGAAAGGTAAGGCTTGGGAAGGAAACGCCTCCCCAGAACCCCCCAGCAGTAATGGCAGAGCAGAGAGGGATGGAGGCTGTCACCTGCCTGCCTCGCGGGGCGGTCTGGAAGGGCCGGGTGGCCCACTTACCTCTTTCACAGAGATGCACATGGCCCAGATGAGCACAAACATCCTCCCTAGGAGCTGCAGCCACCCCATCTTGTGCGTCAGGGCCAAGGGGTGCGGGATGGCCTGCAGGGAAAGAAGAGGGGTGGTCAGTATAGGAAGCAAGGAGGACAGGGCTGGCACCAACTCTAGAGGGACCAAAACCCAGGTGAAACACTCAAGCCGGGCCAGAGACCAGCATGAAACCTGATCTCTGTACAGGGCAAGAGAAGGAAGAGCAGCTCCCTGACCCCAACTCTCCTCACCCTTGATGGAAACCCAGAACTCTACAACGAAGAATATCATCCAATCCGTGCTAACAACCCTCACACTCCATTGCAATAGCCTTTCCGGAACCCATCCATATCCAGGCACTCAACATGGCCTCACAGCACCGTTAAATAAAGCCGAGGCTCTGTGCCCCACGTGACGCATGGGAAACCGAAGCCCAGCAGGCAGGGAGAGCTTATCCTCCTCCCGTTTCCTGCAGCCCTCACAGCAGAAACACCCAGCTAGTTCTATATTTACAGACAGAGACCCTGTGCAGGGCCTGAGTCTCCGAATTCTCCAACTTTCCTCCCAGCAAGGGTCTGCCCTTGGGACTCGGCACCTGGGGCTTAGCCCAGGCTAAGCACTGAAGACATATTCAGTTCCCTGGGAAGCGTGAAGGACAACTGGGGGACCCCGCCCAATCTCCTGGTCTCTCTGGGCCTCAGTTTTCCCACCTGCACGTGGGGCAGCTCCAAGCCCCTCCAGCTCTGACGGCCCCATTTTCCCCCTCCAAGGGGCCCACGTACCTCCTCCTCCCGGGGGCGGTAGTACGAGACGAGGGTCAGGGTGATGTTGTAGAAGAAATAAAAGCAGAAGGACAGAAAGAACATGTGCTTGGCAAACTTCTTCCACTTCATATGCAGCAGCGTGTGCAGCGGCTCCAGGGTCAGCATCTCATGCCAGTTCTAGGGGTAGAATGCCACCAGTCACCATGGAGATGAGGGAGAGAGGGAGGGACCGTTTTCTAAAGGCCTGCGGGAGCTCTGAGTCAGTGCTGCAGAAGGGGCCCATCATTATGCCCGATGGACTGGTCTGGTTGGAAATGCTGGGAGGGTGATTTCCGGCTCCTGAGGCTCCTCCCCAGGGTACTAGGGCAGCAGTCAGAGGCCGCAGGAGCCCGGGCTTGCAGCAGGAGGACCCGATGCACAGCAGAAAGTGGAGGATAGAAGCGGGCAGGAGGTGGTGGCAGGGGTTCCAGCCCCAGTTTGCTCCTCCTTTGCTGTGTGACTTTAGGACAGACCCTGACCCTCTCTGGGCCTCAGACTCCTCACCTATAAAACTGCTAACAATCCCTGCCCTACCAACCAGGCTGCTGTGAGGGTCTGGGAAGACCCAAGGCAAGGGGACTCTGGGAAGCATGACTCTTAGTAAAGTATGAAGGAGGAAGACCCAGCCTGCTGCCTCACTGCCCCCAAGAGCTGAACACCTCTCATAGCTGCTCCTCTCTTCACCTCCAGTTGCACCGAACTCTCCCCTCTAGCCTCCTCCAGGAAGGCCCCCCGATTGCTCCTCAGTGCACTCTCTGACCCTCATTTGGGACCAGGTTTTGGGGAAGAAAGAATTCTAAGCCTGGCCGTATACACCAACGGGGGGTGGGAGAGAAACAATATGGAAAGGATCAACCCCAATCACCCCATCACCCACACCCACACCCAAACAGCCCTGGATACTCGGTCCAGAAGACCTCCCGCCCACCGCCCCCGCCACCACCACTCAGGTCTACAGTCCAAGGTCAATCAGGAAGAGTCGGGCCCAGCATCTGTCCCAGGCCTCGCCTTTTCTGTGCCTGACTCTGCTCACTGAGGCAACAGAGTGGGGTATGCAGATGCCGAGGGATGGAGCTGGCAGCACTGGGTCTTCCCAGCGTCCTCTCAGCCCCTGGCCTGAGGTCCAGCCCTCTTCTCCCTGCCCTTCCCCGCCTGTGCAGGAGACCCACGTCGATGTTGGTGTTGTAGACAGTGATTTCCAGCACTGAGTTGTCCGTGGTGGTGTCCACGTTGGTGAGGTCGTAGAGGGAGGATGACACGGGTCCGTACGCCCAGTCGGTGAACTTCCTGGACAGGCTCCGGAGCCGCTTCTCCTTGATCTCACGACTGAGGATGTACTTCAGGATCTGGGACAGGAGGAGGAACAACCATCAGCTGCAGAACAGGGGCTTAAGGCCAACAGGGCTGGACCAGCCAGAGGCTGGCTGGGCCCAGGGGATACACCCGCCCAGAATGGGTGGAGACCTGCCTCTGCGCCTGGCGCCATGGCCCCTGGGCCCCGTCTTTATCTGTGGAATGCGCACAAAGCTTGCTGTTCCGCCCATCTCACTGGGGGTTGTGAATACCAGGGACAAAGGGTGTGAAGGTTCTTCGCAGGCTGCAGCAAGCTGCACAATCAGCTTGAAATGCCTCACGCCAGCTGGGGACCCGGTTCGGTGAAAAATCCAGGCACTGATGATTTTTTAGAAACAGTTTCCATTTGCTCTGGACTTGAGAAGAAGCCAGAAGTGTTCTCAGCGTCCCCAGCCCACCCTAAGCCAAGACTCCTCCAGCTGTGGCTCACCACTCTGGCCAGGCAGGTGGTGACGAGAGACACCACGCCCTACAGGGAGGCCCGTGGGACTTCGGTAGGCCAGTGATCCTCAAACTCTGCTGCATGTTAGGGCTGCTGGGAAACTTAGAAATTCCCACAGCATGGCCAGGTGCAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGGAATCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTAACCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTCGCTTGAACCTGGGAGGTGGAGGTTGCCGTGAGCCATGATTGCGCCACTGCACTCCAGCCTGGGCAATGA
Task1_train_23228
The gene CTNS (cystinosin, lysosomal cystine transporter) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Ocular cystinosis
TCAGGAGATACTTCATTTCTATCTTGTAGCTTTCACAAGCCACTAGTTGTATGTAATTATCAATCTGGTTTTTTTTTTGTTTTTTTTTTTTAATTTGAGACGGAGTTTCACTCTTATCACTCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGATTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAAGTGATCCAACTGCCTCGGCCTCCCAAAGTGCTGGAATTACACACACGAGCCACTGCGCTCAGCCTAATCTGATGTTTTTTAACATTTTAATTGACTTACCTCTCAATGTCGTTTTGTCTCTGCTGGCATCGTTCCTCCAGGGGTCTCAGCCTTTGAGGCTTGGGAATGTTTGCTGACCAAGTCTGTGAGTTTGAGAAGCTGGTTAGGCCTGATTCTGCATCTAATTTCTGGAGAAAAACCAGACTCTGTCCTGGGCAACAAACTGAATCCTGAACTTGAGGCCACAGGGCAGGTGTGAGGAGCGGAGGGCAGCAAGAGTGAGAGGGAGGCCTGTGGTCATTCCATACACGCAGGAGGGCAATTCCTCCAAGGTCAGGGGACAGAGCACAGGGATCCAGCGCCAAGAGCAAGGCCCCCAGAGGAGGCCAGAGAGTAGGTACGGGGTCATTCCCGGCCGGTGAGAAGGGTCTCAGATGAGGCAGACCTGCAGCAGGCAAAGAGAGAACCCTGGAGGAGACGGGCCAACAGAGGTCAGACAGCTGGAGCAGCCAGGGAGACTTCTTGAGGAGTGTGTAAGGGAGATGTCCGGAGATGCTGGAGGCCTTGGGGAAACTGAAATCAGAGTGGGAACAGGGATGTCTCCACACAGACCTTACCCAGAGCTCCCCACAGTCTGCAGGAGGCCCGTGAGACTGTGTACTGAGGCAGCACGGAGACCAAGCTACAGAAATCCATGCCGGCCTGGCTGCTCTTGACCCACTGTTCACCTGCTGTGTCTTGGGTTTACAGGAATGCAGCTCCCCATCTTCCACACTAAACCAAGGACTTGCTCTGGGGCTCATCCCTCCCCGAGTCCTCCTTGTGAATGACCCCAGCCAGTCCTGGAATGGTGACACTTGTCAAATAAAGTCTTGACAGGCGCGGTGGCTCCTACCTGTAACCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACTCGAGGTCAGGAGTTTGAGACCAGGCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAGTTAGCCGGGCATGGTGGGGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATTGCTTGAACCCAGGGGGTGGAGGTTTCAGTGAACAGAGTTCGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAATTTAAATATGTATATTAAAAAAAAATGTTTTTTTAAGTCTTAAGGGTCAGTTGGTGTCATCAGCCCTTAGACTCTTATCCCAGGACAGGAAAGGAAATTAATTTCCTTGAGGTTTATAGGTTCACAATGTCAAATATCTGACCACAGTTTTAACAACTTTTGGAGAAAAAGAATCTCAAGCCAGTAAAATTGCATTCTTTCTTTCTGCTAACTAAGTTTTTACAAAAAGCAATTGAAGAGGGAAAAATTCTGGTCTTTGTTCACTTCCTCAGGGGGGCACTTTACACAACCCATTTATCTGCTCGGAGCCCGTTTCCCCTGTATATCAAAGAAAGATAAGTCCTCTCTAGGGTGTCCCTCTGAGGCCGTGATGCAAAGCCCTGAGGTCACAGCTGTCAGGTGGCAGTCCTTTATGAGCCATCCATGCTCCAGAGGGCAGATTGTCTACAGGGAGCTGAGCTGATTCAACATTCCCCTGAACTTCTCTCTTGCTGTTTTTCTTCCTAGTTCTGAGAAATCGAGAAACATGATAAGGAATTGGCTGACTATTTTTATCCTTTTTCCCCTGAAGCTCGTAGAGAAATGTGGTAAGTTTAGAAATGACACGTCAACTTTGTAAAGAGGGAAATGGTGGCTAGAGGAAGGAGTAATCTGATCTGTTTGTTGCCAAGGGTTTAGAATCATTCAGACCACATGTCTCTGTCTGCCTCTTGGCCATGTGGCCACTGGGGTGGTGGAGCAGACCCAGGTCTGGGATCCAGGTGTTCTGCAAAGAGCCAGATAGTTCCACATATAATTGGCCTTCTGCCCTGGTATCTCTGTACCTTTCTGTACCAAAGTGAACAGCTGGTTCTTAAGGTCAGACTATGCAGCTGATTCTCAAAGTCAAACGGTAGAGCTCCAACAACCTGGGATAATATCTTAAAGACTGGCTCAGGCTGGAGCAGTGGCTCACGCCTATAATTCCAGAGCTTTGGGAGGCCAAGGCAGGAAGATCTCTTGAGGCCAGGAGTTTGAGACCAACCTGGGCAACGTAGTGAAACCCCATGTCTACTAAAAAATAATTTTTAAAAATTAGCCATATGCAGTGGCTCGTGCCTATAGTCCTAGCTACTTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCCCAGGAAGTCAAGGCTACAGTGAGTTATGATCACACTACTGCACTCCGGCCTGGGCAACAGAGTTGAGACCCTGACTTTAAAAGAAAAAAAAGAAGAATGGCTTATGCCTCTGCCCTGTGGACCTCACAGAGAGAGTCTTGGGTCCTGGGAAACACTGGGGAAGCAGAAGAGGTAGCCACCCTGTTGTACCCGGTTCTGCCAGGCACAGATCACCTGAGGAGTCTGCCCAGCATCCCCTTGTAAGATGAGAAAACCTGTCCCTTAGAGAGGGGCTGAGGAACAGGGTGCAACAGCCCAGCAGGGCTAGGGGTCAGTTGGAACACAGGCTGGGATGGAGTTTACACGTCCTTGTAGGAGGAATGACCTTCAGTGCAGGCCTCTTTGAGGCCCGTGCCCTTCTAGCAATTCTCCCACTGCCCAAAACATCTCTGGAATTCCTTCCATAAAGAGCCATGTTTAGCACTTCAAAGGTGCCAGGCCCATTCATTTGATCCTCAGCTTGCCTCTTGGGTCAAATACAAAAATCAGATACATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCTGAGGCTGGTGTGCAGTGGCACGATCTCAGCCCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCACCCGCAACTACGCCCAGCTAGTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTTTTGAGCTCCTGACCTCGTGGCTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCCAGATACCTTAAATTCCCATTTCAAGTGAACCTTGACAAACAATACAAATCCTGCAGAGGTTTCCCCAGAGCCTAGCACCATTGCCGTTATCTGGCCTCTTGCATCTCTGAGGAAACATGGTCACGTGATCATCTCTTCCAGGTTTGTTAAACAATCAGTAATGTTTGTAGTCACACTTTGTGGATAAGCAATTTCCGGGAAAGGCAGGTCTTTCAGACCCTGGAACCTGGTGTTTCTTAATACAGACGTCAGAACCCTGTCCCCACCCTGTAGGATCAGACTTTGTAAGACTGAGGCTGGAGCATGTGCGTGTGCCTGGGAGTGTGCGCGCGCGTGTATTTGCCTGGGCCTGTGTGTGTGTGTGTACCCGGGCGTGTGTGTGTGTGTGTGTGCCTGGGCGTGTGTGTGTGTGCCTGGGTGTGTGTCTGCGTGCATGTATGTGTGCCCGGGCGTGTGTGTGTGTGTGTGTGTGTGCCCAGTCGCTCATACATACTCTTTAAAGCCCCATTAGTAATGCTAACACGCTCCCCTAGGAGAAAAACAAAAAATCCAGCTACCACCAC
TCAGGAGATACTTCATTTCTATCTTGTAGCTTTCACAAGCCACTAGTTGTATGTAATTATCAATCTGGTTTTTTTTTTGTTTTTTTTTTTTAATTTGAGACGGAGTTTCACTCTTATCACTCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGATTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAAGTGATCCAACTGCCTCGGCCTCCCAAAGTGCTGGAATTACACACACGAGCCACTGCGCTCAGCCTAATCTGATGTTTTTTAACATTTTAATTGACTTACCTCTCAATGTCGTTTTGTCTCTGCTGGCATCGTTCCTCCAGGGGTCTCAGCCTTTGAGGCTTGGGAATGTTTGCTGACCAAGTCTGTGAGTTTGAGAAGCTGGTTAGGCCTGATTCTGCATCTAATTTCTGGAGAAAAACCAGACTCTGTCCTGGGCAACAAACTGAATCCTGAACTTGAGGCCACAGGGCAGGTGTGAGGAGCGGAGGGCAGCAAGAGTGAGAGGGAGGCCTGTGGTCATTCCATACACGCAGGAGGGCAATTCCTCCAAGGTCAGGGGACAGAGCACAGGGATCCAGCGCCAAGAGCAAGGCCCCCAGAGGAGGCCAGAGAGTAGGTACGGGGTCATTCCCGGCCGGTGAGAAGGGTCTCAGATGAGGCAGACCTGCAGCAGGCAAAGAGAGAACCCTGGAGGAGACGGGCCAACAGAGGTCAGACAGCTGGAGCAGCCAGGGAGACTTCTTGAGGAGTGTGTAAGGGAGATGTCCGGAGATGCTGGAGGCCTTGGGGAAACTGAAATCAGAGTGGGAACAGGGATGTCTCCACACAGACCTTACCCAGAGCTCCCCACAGTCTGCAGGAGGCCCGTGAGACTGTGTACTGAGGCAGCACGGAGACCAAGCTACAGAAATCCATGCCGGCCTGGCTGCTCTTGACCCACTGTTCACCTGCTGTGTCTTGGGTTTACAGGAATGCAGCTCCCCATCTTCCACACTAAACCAAGGACTTGCTCTGGGGCTCATCCCTCCCCGAGTCCTCCTTGTGAATGACCCCAGCCAGTCCTGGAATGGTGACACTTGTCAAATAAAGTCTTGACAGGCGCGGTGGCTCCTACCTGTAACCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACTCGAGGTCAGGAGTTTGAGACCAGGCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAGTTAGCCGGGCATGGTGGGGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATTGCTTGAACCCAGGGGGTGGAGGTTTCAGTGAACAGAGTTCGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAATTTAAATATGTATATTAAAAAAAAATGTTTTTTTAAGTCTTAAGGGTCAGTTGGTGTCATCAGCCCTTAGACTCTTATCCCAGGACAGGAAAGGAAATTAATTTCCTTGAGGTTTATAGGTTCACAATGTCAAATATCTGACCACAGTTTTAACAACTTTTGGAGAAAAAGAATCTCAAGCCAGTAAAATTGCATTCTTTCTTTCTGCTAACTAAGTTTTTACAAAAAGCAATTGAAGAGGGAAAAATTCTGGTCTTTGTTCACTTCCTCAGGGGGGCACTTTACACAACCCATTTATCTGCTCGGAGCCCGTTTCCCCTGTATATCAAAGAAAGATAAGTCCTCTCTAGGGTGTCCCTCTGAGGCCGTGATGCAAAGCCCTGAGGTCACAGCTGTCAGGTGGCAGTCCTTTATGAGCCATCCATGCTCCAGAGGGCAGATTGTCTACAGGGAGCTGAGCTGATTCAACATTCCCCTGAACTTCTCTCTTGCTGTTTTTCTTCCTAGTTCTGAGAAATCGAGAAACTTGATAAGGAATTGGCTGACTATTTTTATCCTTTTTCCCCTGAAGCTCGTAGAGAAATGTGGTAAGTTTAGAAATGACACGTCAACTTTGTAAAGAGGGAAATGGTGGCTAGAGGAAGGAGTAATCTGATCTGTTTGTTGCCAAGGGTTTAGAATCATTCAGACCACATGTCTCTGTCTGCCTCTTGGCCATGTGGCCACTGGGGTGGTGGAGCAGACCCAGGTCTGGGATCCAGGTGTTCTGCAAAGAGCCAGATAGTTCCACATATAATTGGCCTTCTGCCCTGGTATCTCTGTACCTTTCTGTACCAAAGTGAACAGCTGGTTCTTAAGGTCAGACTATGCAGCTGATTCTCAAAGTCAAACGGTAGAGCTCCAACAACCTGGGATAATATCTTAAAGACTGGCTCAGGCTGGAGCAGTGGCTCACGCCTATAATTCCAGAGCTTTGGGAGGCCAAGGCAGGAAGATCTCTTGAGGCCAGGAGTTTGAGACCAACCTGGGCAACGTAGTGAAACCCCATGTCTACTAAAAAATAATTTTTAAAAATTAGCCATATGCAGTGGCTCGTGCCTATAGTCCTAGCTACTTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCCCAGGAAGTCAAGGCTACAGTGAGTTATGATCACACTACTGCACTCCGGCCTGGGCAACAGAGTTGAGACCCTGACTTTAAAAGAAAAAAAAGAAGAATGGCTTATGCCTCTGCCCTGTGGACCTCACAGAGAGAGTCTTGGGTCCTGGGAAACACTGGGGAAGCAGAAGAGGTAGCCACCCTGTTGTACCCGGTTCTGCCAGGCACAGATCACCTGAGGAGTCTGCCCAGCATCCCCTTGTAAGATGAGAAAACCTGTCCCTTAGAGAGGGGCTGAGGAACAGGGTGCAACAGCCCAGCAGGGCTAGGGGTCAGTTGGAACACAGGCTGGGATGGAGTTTACACGTCCTTGTAGGAGGAATGACCTTCAGTGCAGGCCTCTTTGAGGCCCGTGCCCTTCTAGCAATTCTCCCACTGCCCAAAACATCTCTGGAATTCCTTCCATAAAGAGCCATGTTTAGCACTTCAAAGGTGCCAGGCCCATTCATTTGATCCTCAGCTTGCCTCTTGGGTCAAATACAAAAATCAGATACATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCTGAGGCTGGTGTGCAGTGGCACGATCTCAGCCCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCACCCGCAACTACGCCCAGCTAGTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTTTTGAGCTCCTGACCTCGTGGCTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCCAGATACCTTAAATTCCCATTTCAAGTGAACCTTGACAAACAATACAAATCCTGCAGAGGTTTCCCCAGAGCCTAGCACCATTGCCGTTATCTGGCCTCTTGCATCTCTGAGGAAACATGGTCACGTGATCATCTCTTCCAGGTTTGTTAAACAATCAGTAATGTTTGTAGTCACACTTTGTGGATAAGCAATTTCCGGGAAAGGCAGGTCTTTCAGACCCTGGAACCTGGTGTTTCTTAATACAGACGTCAGAACCCTGTCCCCACCCTGTAGGATCAGACTTTGTAAGACTGAGGCTGGAGCATGTGCGTGTGCCTGGGAGTGTGCGCGCGCGTGTATTTGCCTGGGCCTGTGTGTGTGTGTGTACCCGGGCGTGTGTGTGTGTGTGTGTGCCTGGGCGTGTGTGTGTGTGCCTGGGTGTGTGTCTGCGTGCATGTATGTGTGCCCGGGCGTGTGTGTGTGTGTGTGTGTGTGCCCAGTCGCTCATACATACTCTTTAAAGCCCCATTAGTAATGCTAACACGCTCCCCTAGGAGAAAAACAAAAAATCCAGCTACCACCAC
Task1_train_23229
The gene CTNS (cystinosin, lysosomal cystine transporter) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Juvenile nephropathic cystinosis
TCAGGAGATACTTCATTTCTATCTTGTAGCTTTCACAAGCCACTAGTTGTATGTAATTATCAATCTGGTTTTTTTTTTGTTTTTTTTTTTTAATTTGAGACGGAGTTTCACTCTTATCACTCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGATTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAAGTGATCCAACTGCCTCGGCCTCCCAAAGTGCTGGAATTACACACACGAGCCACTGCGCTCAGCCTAATCTGATGTTTTTTAACATTTTAATTGACTTACCTCTCAATGTCGTTTTGTCTCTGCTGGCATCGTTCCTCCAGGGGTCTCAGCCTTTGAGGCTTGGGAATGTTTGCTGACCAAGTCTGTGAGTTTGAGAAGCTGGTTAGGCCTGATTCTGCATCTAATTTCTGGAGAAAAACCAGACTCTGTCCTGGGCAACAAACTGAATCCTGAACTTGAGGCCACAGGGCAGGTGTGAGGAGCGGAGGGCAGCAAGAGTGAGAGGGAGGCCTGTGGTCATTCCATACACGCAGGAGGGCAATTCCTCCAAGGTCAGGGGACAGAGCACAGGGATCCAGCGCCAAGAGCAAGGCCCCCAGAGGAGGCCAGAGAGTAGGTACGGGGTCATTCCCGGCCGGTGAGAAGGGTCTCAGATGAGGCAGACCTGCAGCAGGCAAAGAGAGAACCCTGGAGGAGACGGGCCAACAGAGGTCAGACAGCTGGAGCAGCCAGGGAGACTTCTTGAGGAGTGTGTAAGGGAGATGTCCGGAGATGCTGGAGGCCTTGGGGAAACTGAAATCAGAGTGGGAACAGGGATGTCTCCACACAGACCTTACCCAGAGCTCCCCACAGTCTGCAGGAGGCCCGTGAGACTGTGTACTGAGGCAGCACGGAGACCAAGCTACAGAAATCCATGCCGGCCTGGCTGCTCTTGACCCACTGTTCACCTGCTGTGTCTTGGGTTTACAGGAATGCAGCTCCCCATCTTCCACACTAAACCAAGGACTTGCTCTGGGGCTCATCCCTCCCCGAGTCCTCCTTGTGAATGACCCCAGCCAGTCCTGGAATGGTGACACTTGTCAAATAAAGTCTTGACAGGCGCGGTGGCTCCTACCTGTAACCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACTCGAGGTCAGGAGTTTGAGACCAGGCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAGTTAGCCGGGCATGGTGGGGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATTGCTTGAACCCAGGGGGTGGAGGTTTCAGTGAACAGAGTTCGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAATTTAAATATGTATATTAAAAAAAAATGTTTTTTTAAGTCTTAAGGGTCAGTTGGTGTCATCAGCCCTTAGACTCTTATCCCAGGACAGGAAAGGAAATTAATTTCCTTGAGGTTTATAGGTTCACAATGTCAAATATCTGACCACAGTTTTAACAACTTTTGGAGAAAAAGAATCTCAAGCCAGTAAAATTGCATTCTTTCTTTCTGCTAACTAAGTTTTTACAAAAAGCAATTGAAGAGGGAAAAATTCTGGTCTTTGTTCACTTCCTCAGGGGGGCACTTTACACAACCCATTTATCTGCTCGGAGCCCGTTTCCCCTGTATATCAAAGAAAGATAAGTCCTCTCTAGGGTGTCCCTCTGAGGCCGTGATGCAAAGCCCTGAGGTCACAGCTGTCAGGTGGCAGTCCTTTATGAGCCATCCATGCTCCAGAGGGCAGATTGTCTACAGGGAGCTGAGCTGATTCAACATTCCCCTGAACTTCTCTCTTGCTGTTTTTCTTCCTAGTTCTGAGAAATCGAGAAACATGATAAGGAATTGGCTGACTATTTTTATCCTTTTTCCCCTGAAGCTCGTAGAGAAATGTGGTAAGTTTAGAAATGACACGTCAACTTTGTAAAGAGGGAAATGGTGGCTAGAGGAAGGAGTAATCTGATCTGTTTGTTGCCAAGGGTTTAGAATCATTCAGACCACATGTCTCTGTCTGCCTCTTGGCCATGTGGCCACTGGGGTGGTGGAGCAGACCCAGGTCTGGGATCCAGGTGTTCTGCAAAGAGCCAGATAGTTCCACATATAATTGGCCTTCTGCCCTGGTATCTCTGTACCTTTCTGTACCAAAGTGAACAGCTGGTTCTTAAGGTCAGACTATGCAGCTGATTCTCAAAGTCAAACGGTAGAGCTCCAACAACCTGGGATAATATCTTAAAGACTGGCTCAGGCTGGAGCAGTGGCTCACGCCTATAATTCCAGAGCTTTGGGAGGCCAAGGCAGGAAGATCTCTTGAGGCCAGGAGTTTGAGACCAACCTGGGCAACGTAGTGAAACCCCATGTCTACTAAAAAATAATTTTTAAAAATTAGCCATATGCAGTGGCTCGTGCCTATAGTCCTAGCTACTTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCCCAGGAAGTCAAGGCTACAGTGAGTTATGATCACACTACTGCACTCCGGCCTGGGCAACAGAGTTGAGACCCTGACTTTAAAAGAAAAAAAAGAAGAATGGCTTATGCCTCTGCCCTGTGGACCTCACAGAGAGAGTCTTGGGTCCTGGGAAACACTGGGGAAGCAGAAGAGGTAGCCACCCTGTTGTACCCGGTTCTGCCAGGCACAGATCACCTGAGGAGTCTGCCCAGCATCCCCTTGTAAGATGAGAAAACCTGTCCCTTAGAGAGGGGCTGAGGAACAGGGTGCAACAGCCCAGCAGGGCTAGGGGTCAGTTGGAACACAGGCTGGGATGGAGTTTACACGTCCTTGTAGGAGGAATGACCTTCAGTGCAGGCCTCTTTGAGGCCCGTGCCCTTCTAGCAATTCTCCCACTGCCCAAAACATCTCTGGAATTCCTTCCATAAAGAGCCATGTTTAGCACTTCAAAGGTGCCAGGCCCATTCATTTGATCCTCAGCTTGCCTCTTGGGTCAAATACAAAAATCAGATACATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCTGAGGCTGGTGTGCAGTGGCACGATCTCAGCCCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCACCCGCAACTACGCCCAGCTAGTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTTTTGAGCTCCTGACCTCGTGGCTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCCAGATACCTTAAATTCCCATTTCAAGTGAACCTTGACAAACAATACAAATCCTGCAGAGGTTTCCCCAGAGCCTAGCACCATTGCCGTTATCTGGCCTCTTGCATCTCTGAGGAAACATGGTCACGTGATCATCTCTTCCAGGTTTGTTAAACAATCAGTAATGTTTGTAGTCACACTTTGTGGATAAGCAATTTCCGGGAAAGGCAGGTCTTTCAGACCCTGGAACCTGGTGTTTCTTAATACAGACGTCAGAACCCTGTCCCCACCCTGTAGGATCAGACTTTGTAAGACTGAGGCTGGAGCATGTGCGTGTGCCTGGGAGTGTGCGCGCGCGTGTATTTGCCTGGGCCTGTGTGTGTGTGTGTACCCGGGCGTGTGTGTGTGTGTGTGTGCCTGGGCGTGTGTGTGTGTGCCTGGGTGTGTGTCTGCGTGCATGTATGTGTGCCCGGGCGTGTGTGTGTGTGTGTGTGTGTGCCCAGTCGCTCATACATACTCTTTAAAGCCCCATTAGTAATGCTAACACGCTCCCCTAGGAGAAAAACAAAAAATCCAGCTACCACCAC
TCAGGAGATACTTCATTTCTATCTTGTAGCTTTCACAAGCCACTAGTTGTATGTAATTATCAATCTGGTTTTTTTTTTGTTTTTTTTTTTTAATTTGAGACGGAGTTTCACTCTTATCACTCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGATTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAAGTGATCCAACTGCCTCGGCCTCCCAAAGTGCTGGAATTACACACACGAGCCACTGCGCTCAGCCTAATCTGATGTTTTTTAACATTTTAATTGACTTACCTCTCAATGTCGTTTTGTCTCTGCTGGCATCGTTCCTCCAGGGGTCTCAGCCTTTGAGGCTTGGGAATGTTTGCTGACCAAGTCTGTGAGTTTGAGAAGCTGGTTAGGCCTGATTCTGCATCTAATTTCTGGAGAAAAACCAGACTCTGTCCTGGGCAACAAACTGAATCCTGAACTTGAGGCCACAGGGCAGGTGTGAGGAGCGGAGGGCAGCAAGAGTGAGAGGGAGGCCTGTGGTCATTCCATACACGCAGGAGGGCAATTCCTCCAAGGTCAGGGGACAGAGCACAGGGATCCAGCGCCAAGAGCAAGGCCCCCAGAGGAGGCCAGAGAGTAGGTACGGGGTCATTCCCGGCCGGTGAGAAGGGTCTCAGATGAGGCAGACCTGCAGCAGGCAAAGAGAGAACCCTGGAGGAGACGGGCCAACAGAGGTCAGACAGCTGGAGCAGCCAGGGAGACTTCTTGAGGAGTGTGTAAGGGAGATGTCCGGAGATGCTGGAGGCCTTGGGGAAACTGAAATCAGAGTGGGAACAGGGATGTCTCCACACAGACCTTACCCAGAGCTCCCCACAGTCTGCAGGAGGCCCGTGAGACTGTGTACTGAGGCAGCACGGAGACCAAGCTACAGAAATCCATGCCGGCCTGGCTGCTCTTGACCCACTGTTCACCTGCTGTGTCTTGGGTTTACAGGAATGCAGCTCCCCATCTTCCACACTAAACCAAGGACTTGCTCTGGGGCTCATCCCTCCCCGAGTCCTCCTTGTGAATGACCCCAGCCAGTCCTGGAATGGTGACACTTGTCAAATAAAGTCTTGACAGGCGCGGTGGCTCCTACCTGTAACCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACTCGAGGTCAGGAGTTTGAGACCAGGCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAGTTAGCCGGGCATGGTGGGGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATTGCTTGAACCCAGGGGGTGGAGGTTTCAGTGAACAGAGTTCGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAATTTAAATATGTATATTAAAAAAAAATGTTTTTTTAAGTCTTAAGGGTCAGTTGGTGTCATCAGCCCTTAGACTCTTATCCCAGGACAGGAAAGGAAATTAATTTCCTTGAGGTTTATAGGTTCACAATGTCAAATATCTGACCACAGTTTTAACAACTTTTGGAGAAAAAGAATCTCAAGCCAGTAAAATTGCATTCTTTCTTTCTGCTAACTAAGTTTTTACAAAAAGCAATTGAAGAGGGAAAAATTCTGGTCTTTGTTCACTTCCTCAGGGGGGCACTTTACACAACCCATTTATCTGCTCGGAGCCCGTTTCCCCTGTATATCAAAGAAAGATAAGTCCTCTCTAGGGTGTCCCTCTGAGGCCGTGATGCAAAGCCCTGAGGTCACAGCTGTCAGGTGGCAGTCCTTTATGAGCCATCCATGCTCCAGAGGGCAGATTGTCTACAGGGAGCTGAGCTGATTCAACATTCCCCTGAACTTCTCTCTTGCTGTTTTTCTTCCTAGTTCTGAGAAATCGAGAAACTTGATAAGGAATTGGCTGACTATTTTTATCCTTTTTCCCCTGAAGCTCGTAGAGAAATGTGGTAAGTTTAGAAATGACACGTCAACTTTGTAAAGAGGGAAATGGTGGCTAGAGGAAGGAGTAATCTGATCTGTTTGTTGCCAAGGGTTTAGAATCATTCAGACCACATGTCTCTGTCTGCCTCTTGGCCATGTGGCCACTGGGGTGGTGGAGCAGACCCAGGTCTGGGATCCAGGTGTTCTGCAAAGAGCCAGATAGTTCCACATATAATTGGCCTTCTGCCCTGGTATCTCTGTACCTTTCTGTACCAAAGTGAACAGCTGGTTCTTAAGGTCAGACTATGCAGCTGATTCTCAAAGTCAAACGGTAGAGCTCCAACAACCTGGGATAATATCTTAAAGACTGGCTCAGGCTGGAGCAGTGGCTCACGCCTATAATTCCAGAGCTTTGGGAGGCCAAGGCAGGAAGATCTCTTGAGGCCAGGAGTTTGAGACCAACCTGGGCAACGTAGTGAAACCCCATGTCTACTAAAAAATAATTTTTAAAAATTAGCCATATGCAGTGGCTCGTGCCTATAGTCCTAGCTACTTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCCCAGGAAGTCAAGGCTACAGTGAGTTATGATCACACTACTGCACTCCGGCCTGGGCAACAGAGTTGAGACCCTGACTTTAAAAGAAAAAAAAGAAGAATGGCTTATGCCTCTGCCCTGTGGACCTCACAGAGAGAGTCTTGGGTCCTGGGAAACACTGGGGAAGCAGAAGAGGTAGCCACCCTGTTGTACCCGGTTCTGCCAGGCACAGATCACCTGAGGAGTCTGCCCAGCATCCCCTTGTAAGATGAGAAAACCTGTCCCTTAGAGAGGGGCTGAGGAACAGGGTGCAACAGCCCAGCAGGGCTAGGGGTCAGTTGGAACACAGGCTGGGATGGAGTTTACACGTCCTTGTAGGAGGAATGACCTTCAGTGCAGGCCTCTTTGAGGCCCGTGCCCTTCTAGCAATTCTCCCACTGCCCAAAACATCTCTGGAATTCCTTCCATAAAGAGCCATGTTTAGCACTTCAAAGGTGCCAGGCCCATTCATTTGATCCTCAGCTTGCCTCTTGGGTCAAATACAAAAATCAGATACATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCTGAGGCTGGTGTGCAGTGGCACGATCTCAGCCCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCACCCGCAACTACGCCCAGCTAGTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTTTTGAGCTCCTGACCTCGTGGCTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCCAGATACCTTAAATTCCCATTTCAAGTGAACCTTGACAAACAATACAAATCCTGCAGAGGTTTCCCCAGAGCCTAGCACCATTGCCGTTATCTGGCCTCTTGCATCTCTGAGGAAACATGGTCACGTGATCATCTCTTCCAGGTTTGTTAAACAATCAGTAATGTTTGTAGTCACACTTTGTGGATAAGCAATTTCCGGGAAAGGCAGGTCTTTCAGACCCTGGAACCTGGTGTTTCTTAATACAGACGTCAGAACCCTGTCCCCACCCTGTAGGATCAGACTTTGTAAGACTGAGGCTGGAGCATGTGCGTGTGCCTGGGAGTGTGCGCGCGCGTGTATTTGCCTGGGCCTGTGTGTGTGTGTGTACCCGGGCGTGTGTGTGTGTGTGTGTGCCTGGGCGTGTGTGTGTGTGCCTGGGTGTGTGTCTGCGTGCATGTATGTGTGCCCGGGCGTGTGTGTGTGTGTGTGTGTGTGCCCAGTCGCTCATACATACTCTTTAAAGCCCCATTAGTAATGCTAACACGCTCCCCTAGGAGAAAAACAAAAAATCCAGCTACCACCAC
Task1_train_23230
Given this context: Chromosome 17, gene CTNS (cystinosin, lysosomal cystine transporter) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Inborn genetic diseases
TCAGGAGATACTTCATTTCTATCTTGTAGCTTTCACAAGCCACTAGTTGTATGTAATTATCAATCTGGTTTTTTTTTTGTTTTTTTTTTTTAATTTGAGACGGAGTTTCACTCTTATCACTCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGATTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAAGTGATCCAACTGCCTCGGCCTCCCAAAGTGCTGGAATTACACACACGAGCCACTGCGCTCAGCCTAATCTGATGTTTTTTAACATTTTAATTGACTTACCTCTCAATGTCGTTTTGTCTCTGCTGGCATCGTTCCTCCAGGGGTCTCAGCCTTTGAGGCTTGGGAATGTTTGCTGACCAAGTCTGTGAGTTTGAGAAGCTGGTTAGGCCTGATTCTGCATCTAATTTCTGGAGAAAAACCAGACTCTGTCCTGGGCAACAAACTGAATCCTGAACTTGAGGCCACAGGGCAGGTGTGAGGAGCGGAGGGCAGCAAGAGTGAGAGGGAGGCCTGTGGTCATTCCATACACGCAGGAGGGCAATTCCTCCAAGGTCAGGGGACAGAGCACAGGGATCCAGCGCCAAGAGCAAGGCCCCCAGAGGAGGCCAGAGAGTAGGTACGGGGTCATTCCCGGCCGGTGAGAAGGGTCTCAGATGAGGCAGACCTGCAGCAGGCAAAGAGAGAACCCTGGAGGAGACGGGCCAACAGAGGTCAGACAGCTGGAGCAGCCAGGGAGACTTCTTGAGGAGTGTGTAAGGGAGATGTCCGGAGATGCTGGAGGCCTTGGGGAAACTGAAATCAGAGTGGGAACAGGGATGTCTCCACACAGACCTTACCCAGAGCTCCCCACAGTCTGCAGGAGGCCCGTGAGACTGTGTACTGAGGCAGCACGGAGACCAAGCTACAGAAATCCATGCCGGCCTGGCTGCTCTTGACCCACTGTTCACCTGCTGTGTCTTGGGTTTACAGGAATGCAGCTCCCCATCTTCCACACTAAACCAAGGACTTGCTCTGGGGCTCATCCCTCCCCGAGTCCTCCTTGTGAATGACCCCAGCCAGTCCTGGAATGGTGACACTTGTCAAATAAAGTCTTGACAGGCGCGGTGGCTCCTACCTGTAACCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACTCGAGGTCAGGAGTTTGAGACCAGGCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAGTTAGCCGGGCATGGTGGGGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATTGCTTGAACCCAGGGGGTGGAGGTTTCAGTGAACAGAGTTCGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAATTTAAATATGTATATTAAAAAAAAATGTTTTTTTAAGTCTTAAGGGTCAGTTGGTGTCATCAGCCCTTAGACTCTTATCCCAGGACAGGAAAGGAAATTAATTTCCTTGAGGTTTATAGGTTCACAATGTCAAATATCTGACCACAGTTTTAACAACTTTTGGAGAAAAAGAATCTCAAGCCAGTAAAATTGCATTCTTTCTTTCTGCTAACTAAGTTTTTACAAAAAGCAATTGAAGAGGGAAAAATTCTGGTCTTTGTTCACTTCCTCAGGGGGGCACTTTACACAACCCATTTATCTGCTCGGAGCCCGTTTCCCCTGTATATCAAAGAAAGATAAGTCCTCTCTAGGGTGTCCCTCTGAGGCCGTGATGCAAAGCCCTGAGGTCACAGCTGTCAGGTGGCAGTCCTTTATGAGCCATCCATGCTCCAGAGGGCAGATTGTCTACAGGGAGCTGAGCTGATTCAACATTCCCCTGAACTTCTCTCTTGCTGTTTTTCTTCCTAGTTCTGAGAAATCGAGAAACATGATAAGGAATTGGCTGACTATTTTTATCCTTTTTCCCCTGAAGCTCGTAGAGAAATGTGGTAAGTTTAGAAATGACACGTCAACTTTGTAAAGAGGGAAATGGTGGCTAGAGGAAGGAGTAATCTGATCTGTTTGTTGCCAAGGGTTTAGAATCATTCAGACCACATGTCTCTGTCTGCCTCTTGGCCATGTGGCCACTGGGGTGGTGGAGCAGACCCAGGTCTGGGATCCAGGTGTTCTGCAAAGAGCCAGATAGTTCCACATATAATTGGCCTTCTGCCCTGGTATCTCTGTACCTTTCTGTACCAAAGTGAACAGCTGGTTCTTAAGGTCAGACTATGCAGCTGATTCTCAAAGTCAAACGGTAGAGCTCCAACAACCTGGGATAATATCTTAAAGACTGGCTCAGGCTGGAGCAGTGGCTCACGCCTATAATTCCAGAGCTTTGGGAGGCCAAGGCAGGAAGATCTCTTGAGGCCAGGAGTTTGAGACCAACCTGGGCAACGTAGTGAAACCCCATGTCTACTAAAAAATAATTTTTAAAAATTAGCCATATGCAGTGGCTCGTGCCTATAGTCCTAGCTACTTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCCCAGGAAGTCAAGGCTACAGTGAGTTATGATCACACTACTGCACTCCGGCCTGGGCAACAGAGTTGAGACCCTGACTTTAAAAGAAAAAAAAGAAGAATGGCTTATGCCTCTGCCCTGTGGACCTCACAGAGAGAGTCTTGGGTCCTGGGAAACACTGGGGAAGCAGAAGAGGTAGCCACCCTGTTGTACCCGGTTCTGCCAGGCACAGATCACCTGAGGAGTCTGCCCAGCATCCCCTTGTAAGATGAGAAAACCTGTCCCTTAGAGAGGGGCTGAGGAACAGGGTGCAACAGCCCAGCAGGGCTAGGGGTCAGTTGGAACACAGGCTGGGATGGAGTTTACACGTCCTTGTAGGAGGAATGACCTTCAGTGCAGGCCTCTTTGAGGCCCGTGCCCTTCTAGCAATTCTCCCACTGCCCAAAACATCTCTGGAATTCCTTCCATAAAGAGCCATGTTTAGCACTTCAAAGGTGCCAGGCCCATTCATTTGATCCTCAGCTTGCCTCTTGGGTCAAATACAAAAATCAGATACATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCTGAGGCTGGTGTGCAGTGGCACGATCTCAGCCCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCACCCGCAACTACGCCCAGCTAGTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTTTTGAGCTCCTGACCTCGTGGCTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCCAGATACCTTAAATTCCCATTTCAAGTGAACCTTGACAAACAATACAAATCCTGCAGAGGTTTCCCCAGAGCCTAGCACCATTGCCGTTATCTGGCCTCTTGCATCTCTGAGGAAACATGGTCACGTGATCATCTCTTCCAGGTTTGTTAAACAATCAGTAATGTTTGTAGTCACACTTTGTGGATAAGCAATTTCCGGGAAAGGCAGGTCTTTCAGACCCTGGAACCTGGTGTTTCTTAATACAGACGTCAGAACCCTGTCCCCACCCTGTAGGATCAGACTTTGTAAGACTGAGGCTGGAGCATGTGCGTGTGCCTGGGAGTGTGCGCGCGCGTGTATTTGCCTGGGCCTGTGTGTGTGTGTGTACCCGGGCGTGTGTGTGTGTGTGTGTGCCTGGGCGTGTGTGTGTGTGCCTGGGTGTGTGTCTGCGTGCATGTATGTGTGCCCGGGCGTGTGTGTGTGTGTGTGTGTGTGCCCAGTCGCTCATACATACTCTTTAAAGCCCCATTAGTAATGCTAACACGCTCCCCTAGGAGAAAAACAAAAAATCCAGCTACCACCAC
TCAGGAGATACTTCATTTCTATCTTGTAGCTTTCACAAGCCACTAGTTGTATGTAATTATCAATCTGGTTTTTTTTTTGTTTTTTTTTTTTAATTTGAGACGGAGTTTCACTCTTATCACTCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGATTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAAGTGATCCAACTGCCTCGGCCTCCCAAAGTGCTGGAATTACACACACGAGCCACTGCGCTCAGCCTAATCTGATGTTTTTTAACATTTTAATTGACTTACCTCTCAATGTCGTTTTGTCTCTGCTGGCATCGTTCCTCCAGGGGTCTCAGCCTTTGAGGCTTGGGAATGTTTGCTGACCAAGTCTGTGAGTTTGAGAAGCTGGTTAGGCCTGATTCTGCATCTAATTTCTGGAGAAAAACCAGACTCTGTCCTGGGCAACAAACTGAATCCTGAACTTGAGGCCACAGGGCAGGTGTGAGGAGCGGAGGGCAGCAAGAGTGAGAGGGAGGCCTGTGGTCATTCCATACACGCAGGAGGGCAATTCCTCCAAGGTCAGGGGACAGAGCACAGGGATCCAGCGCCAAGAGCAAGGCCCCCAGAGGAGGCCAGAGAGTAGGTACGGGGTCATTCCCGGCCGGTGAGAAGGGTCTCAGATGAGGCAGACCTGCAGCAGGCAAAGAGAGAACCCTGGAGGAGACGGGCCAACAGAGGTCAGACAGCTGGAGCAGCCAGGGAGACTTCTTGAGGAGTGTGTAAGGGAGATGTCCGGAGATGCTGGAGGCCTTGGGGAAACTGAAATCAGAGTGGGAACAGGGATGTCTCCACACAGACCTTACCCAGAGCTCCCCACAGTCTGCAGGAGGCCCGTGAGACTGTGTACTGAGGCAGCACGGAGACCAAGCTACAGAAATCCATGCCGGCCTGGCTGCTCTTGACCCACTGTTCACCTGCTGTGTCTTGGGTTTACAGGAATGCAGCTCCCCATCTTCCACACTAAACCAAGGACTTGCTCTGGGGCTCATCCCTCCCCGAGTCCTCCTTGTGAATGACCCCAGCCAGTCCTGGAATGGTGACACTTGTCAAATAAAGTCTTGACAGGCGCGGTGGCTCCTACCTGTAACCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACTCGAGGTCAGGAGTTTGAGACCAGGCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAGTTAGCCGGGCATGGTGGGGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATTGCTTGAACCCAGGGGGTGGAGGTTTCAGTGAACAGAGTTCGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAATTTAAATATGTATATTAAAAAAAAATGTTTTTTTAAGTCTTAAGGGTCAGTTGGTGTCATCAGCCCTTAGACTCTTATCCCAGGACAGGAAAGGAAATTAATTTCCTTGAGGTTTATAGGTTCACAATGTCAAATATCTGACCACAGTTTTAACAACTTTTGGAGAAAAAGAATCTCAAGCCAGTAAAATTGCATTCTTTCTTTCTGCTAACTAAGTTTTTACAAAAAGCAATTGAAGAGGGAAAAATTCTGGTCTTTGTTCACTTCCTCAGGGGGGCACTTTACACAACCCATTTATCTGCTCGGAGCCCGTTTCCCCTGTATATCAAAGAAAGATAAGTCCTCTCTAGGGTGTCCCTCTGAGGCCGTGATGCAAAGCCCTGAGGTCACAGCTGTCAGGTGGCAGTCCTTTATGAGCCATCCATGCTCCAGAGGGCAGATTGTCTACAGGGAGCTGAGCTGATTCAACATTCCCCTGAACTTCTCTCTTGCTGTTTTTCTTCCTAGTTCTGAGAAATCGAGAAACTTGATAAGGAATTGGCTGACTATTTTTATCCTTTTTCCCCTGAAGCTCGTAGAGAAATGTGGTAAGTTTAGAAATGACACGTCAACTTTGTAAAGAGGGAAATGGTGGCTAGAGGAAGGAGTAATCTGATCTGTTTGTTGCCAAGGGTTTAGAATCATTCAGACCACATGTCTCTGTCTGCCTCTTGGCCATGTGGCCACTGGGGTGGTGGAGCAGACCCAGGTCTGGGATCCAGGTGTTCTGCAAAGAGCCAGATAGTTCCACATATAATTGGCCTTCTGCCCTGGTATCTCTGTACCTTTCTGTACCAAAGTGAACAGCTGGTTCTTAAGGTCAGACTATGCAGCTGATTCTCAAAGTCAAACGGTAGAGCTCCAACAACCTGGGATAATATCTTAAAGACTGGCTCAGGCTGGAGCAGTGGCTCACGCCTATAATTCCAGAGCTTTGGGAGGCCAAGGCAGGAAGATCTCTTGAGGCCAGGAGTTTGAGACCAACCTGGGCAACGTAGTGAAACCCCATGTCTACTAAAAAATAATTTTTAAAAATTAGCCATATGCAGTGGCTCGTGCCTATAGTCCTAGCTACTTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCCCAGGAAGTCAAGGCTACAGTGAGTTATGATCACACTACTGCACTCCGGCCTGGGCAACAGAGTTGAGACCCTGACTTTAAAAGAAAAAAAAGAAGAATGGCTTATGCCTCTGCCCTGTGGACCTCACAGAGAGAGTCTTGGGTCCTGGGAAACACTGGGGAAGCAGAAGAGGTAGCCACCCTGTTGTACCCGGTTCTGCCAGGCACAGATCACCTGAGGAGTCTGCCCAGCATCCCCTTGTAAGATGAGAAAACCTGTCCCTTAGAGAGGGGCTGAGGAACAGGGTGCAACAGCCCAGCAGGGCTAGGGGTCAGTTGGAACACAGGCTGGGATGGAGTTTACACGTCCTTGTAGGAGGAATGACCTTCAGTGCAGGCCTCTTTGAGGCCCGTGCCCTTCTAGCAATTCTCCCACTGCCCAAAACATCTCTGGAATTCCTTCCATAAAGAGCCATGTTTAGCACTTCAAAGGTGCCAGGCCCATTCATTTGATCCTCAGCTTGCCTCTTGGGTCAAATACAAAAATCAGATACATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCTGAGGCTGGTGTGCAGTGGCACGATCTCAGCCCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCACCCGCAACTACGCCCAGCTAGTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTTTTGAGCTCCTGACCTCGTGGCTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCCAGATACCTTAAATTCCCATTTCAAGTGAACCTTGACAAACAATACAAATCCTGCAGAGGTTTCCCCAGAGCCTAGCACCATTGCCGTTATCTGGCCTCTTGCATCTCTGAGGAAACATGGTCACGTGATCATCTCTTCCAGGTTTGTTAAACAATCAGTAATGTTTGTAGTCACACTTTGTGGATAAGCAATTTCCGGGAAAGGCAGGTCTTTCAGACCCTGGAACCTGGTGTTTCTTAATACAGACGTCAGAACCCTGTCCCCACCCTGTAGGATCAGACTTTGTAAGACTGAGGCTGGAGCATGTGCGTGTGCCTGGGAGTGTGCGCGCGCGTGTATTTGCCTGGGCCTGTGTGTGTGTGTGTACCCGGGCGTGTGTGTGTGTGTGTGTGCCTGGGCGTGTGTGTGTGTGCCTGGGTGTGTGTCTGCGTGCATGTATGTGTGCCCGGGCGTGTGTGTGTGTGTGTGTGTGTGCCCAGTCGCTCATACATACTCTTTAAAGCCCCATTAGTAATGCTAACACGCTCCCCTAGGAGAAAAACAAAAAATCCAGCTACCACCAC
Task1_train_23231
The gene CTNS, CTNS-AS1 (cystinosin, lysosomal cystine transporter| CTNS antisense RNA 1) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Cystinosis, atypical nephropathic
AGTTGGAGTGATCAGTGAGCTATAGTTGCACCACTGCACTACAGCCTGAGCTACAGAGCAAGACCTGCCTCTCGGAAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCACCACTTTGGGAGGCCGAAGCGGGTGGATCACCTGAGGTCAGAAGATCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACGAAAAATACAAAAAATTAGCTGGGTATGGTTGTGGGCACCTGTAATCCCAACTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGGGGCGGAGATTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGACTGGCAACAGAGTGAGATTCCATCTCAAAACATATATAATAATAGGAAACCACTGCAGTCTAATGAGCCAGATCCTCACGGTACCTGCAATATGGGTGGAGTATTATCCAGGGAGCACAGAAGCTGGGGACCAGGGGAGACAGCTGGGTTCAGTAAGGATATCATCCTGCTCCCCATCACTGCAGCAGGATTTAAGAGTCTCAGGAAGCACTGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGCTGGGAGTTTGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGACGTGGTGGCACACGCCTATAATTCCAGCTACTCGGGAGGCTGAGGCGGGAGAATCGCTTGAACCCAGGAGGAGGAGTTTGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCGGGGGAAAAATAAAGTCTCAGCAGGCATGCTTGGGAGATCAGATGTTGTAGGCAGGCCTCCGGGTACTTTCCTTGAAGCAGAGCATTTGCCAAATATTGCAGAGCAGCAAGGGTGAAAATGCCCTCTTTGCCAAGTGCCTCATGTATGTGCCTCCTCTGCTTTGTCACTTGGCAGCCAGGCTGGCACAGGGCACACATGGTTTTGTGGACAAGGAGGAGCCCAGTGATGATGGAAGTGGAAGTGATGGTATTGTAGTATAGCAGTGGCCCCGTTTGCCATGCACCAGGCTCTGTGCTGTCAGCTTTCTGAACATCCTGTCATTCATGGCAGCCCTGAAGGGTAGACACTTTTGTTAACTCGTTTTACAGATGAGCAAACTGAGATCAGAGCTTGAATAACTTGCCCAAGGTGACATGTCCAGTAAGAGGACGAGAGCCATCCCTCCTTCCCTCAGAGATAAGCCAGGGGAGGGCATGAGGACAAGTCCATAGCTCTGCTCAGAAAGTCTCACCCAGGCCAGGTATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAAGTCCATCTCTACTAAAAATTCAAAAATTAGCTGGGCATGGTGGCGCACACCTGTAATCCCAGGTACTCGGGACTCAGGAGCCTAAGGCAGGAGAACCGCTTGAACTCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACTCCACTACACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACGACGTCTTCTTCAGCCTGCACGCGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGC
AGTTGGAGTGATCAGTGAGCTATAGTTGCACCACTGCACTACAGCCTGAGCTACAGAGCAAGACCTGCCTCTCGGAAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCACCACTTTGGGAGGCCGAAGCGGGTGGATCACCTGAGGTCAGAAGATCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACGAAAAATACAAAAAATTAGCTGGGTATGGTTGTGGGCACCTGTAATCCCAACTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGGGGCGGAGATTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGACTGGCAACAGAGTGAGATTCCATCTCAAAACATATATAATAATAGGAAACCACTGCAGTCTAATGAGCCAGATCCTCACGGTACCTGCAATATGGGTGGAGTATTATCCAGGGAGCACAGAAGCTGGGGACCAGGGGAGACAGCTGGGTTCAGTAAGGATATCATCCTGCTCCCCATCACTGCAGCAGGATTTAAGAGTCTCAGGAAGCACTGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGCTGGGAGTTTGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGACGTGGTGGCACACGCCTATAATTCCAGCTACTCGGGAGGCTGAGGCGGGAGAATCGCTTGAACCCAGGAGGAGGAGTTTGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCGGGGGAAAAATAAAGTCTCAGCAGGCATGCTTGGGAGATCAGATGTTGTAGGCAGGCCTCCGGGTACTTTCCTTGAAGCAGAGCATTTGCCAAATATTGCAGAGCAGCAAGGGTGAAAATGCCCTCTTTGCCAAGTGCCTCATGTATGTGCCTCCTCTGCTTTGTCACTTGGCAGCCAGGCTGGCACAGGGCACACATGGTTTTGTGGACAAGGAGGAGCCCAGTGATGATGGAAGTGGAAGTGATGGTATTGTAGTATAGCAGTGGCCCCGTTTGCCATGCACCAGGCTCTGTGCTGTCAGCTTTCTGAACATCCTGTCATTCATGGCAGCCCTGAAGGGTAGACACTTTTGTTAACTCGTTTTACAGATGAGCAAACTGAGATCAGAGCTTGAATAACTTGCCCAAGGTGACATGTCCAGTAAGAGGACGAGAGCCATCCCTCCTTCCCTCAGAGATAAGCCAGGGGAGGGCATGAGGACAAGTCCATAGCTCTGCTCAGAAAGTCTCACCCAGGCCAGGTATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAAGTCCATCTCTACTAAAAATTCAAAAATTAGCTGGGCATGGTGGCGCACACCTGTAATCCCAGGTACTCGGGACTCAGGAGCCTAAGGCAGGAGAACCGCTTGAACTCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACTCCACTACACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGTGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACGACGTCTTCTTCAGCCTGCACGCGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGC
Task1_train_23232
This variant lies on Chromosome 17 and affects the gene CTNS, CTNS-AS1 (cystinosin, lysosomal cystine transporter| CTNS antisense RNA 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Inborn genetic diseases
TCAAAAAAAAAAAAAAAAAGGAAAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACGACGTCTTCTTCAGCCTGCACGCGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGCTTGGTTGGGCTCCAAGGATGAGTGAAGTTCCTATGGAGGAGGGGAGGGGCCAGGGTGGGCTCCTGGAGGGGTCAGGTCACAGAGGCCAAGGGGCATTTGAGAGGGACCCTGAGCAGGCGGGTGCAGCTGGGCTTCAGGGTGCCAGGAGGGGGCCCGCGTGCAGGCGGAGACACCTGTATTCAGCTTTGTTGCTGGAAGCCATGGGTGTCGGCAGGGCAGGGCCCCACCAAGGCTGGGTCCGGGGACCCCTGATATGACAGCTTTGCTTTCCCTTCTCTCAGGGAGTTCCCTTCACACTGTAAGGCCAGCTGGGGGCTGTCTGGCCCCACCCGTATGAACCTTCTAGGCTTTCTTAGCTTTTGGTGTGAAGCGAGAGTGAAGGTGGCCCACATTGGGCCCGTGTTCAGGGAAAGGCAAGGCGAGGGGACAGATTCCTGAGATCCTCAGGCTGCTGCCGGGTCGTGGGACGAGTCAGTACCTGGCTGGGAGAGGCACCAGGCCACCAGAGTTCCGACCCCACGTCTCCAAGTGAGTGCTGAGAGGCGCCCAGTTCTGCCAAGTAGGAACAAAGCAGACAGAGCTTGAGAGTCCAAGCAGCCTGAACAGGAGGCCCTGGCGATGAGAAGGTGTGGTTGGTGCTGGGGATGTCCAGCACCAGCCCAGGTGTGATGCTTTCTGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCG
TCAAAAAAAAAAAAAAAAAGGAAAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACAACGTCTTCTTCAGCCTGCACGCGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGCTTGGTTGGGCTCCAAGGATGAGTGAAGTTCCTATGGAGGAGGGGAGGGGCCAGGGTGGGCTCCTGGAGGGGTCAGGTCACAGAGGCCAAGGGGCATTTGAGAGGGACCCTGAGCAGGCGGGTGCAGCTGGGCTTCAGGGTGCCAGGAGGGGGCCCGCGTGCAGGCGGAGACACCTGTATTCAGCTTTGTTGCTGGAAGCCATGGGTGTCGGCAGGGCAGGGCCCCACCAAGGCTGGGTCCGGGGACCCCTGATATGACAGCTTTGCTTTCCCTTCTCTCAGGGAGTTCCCTTCACACTGTAAGGCCAGCTGGGGGCTGTCTGGCCCCACCCGTATGAACCTTCTAGGCTTTCTTAGCTTTTGGTGTGAAGCGAGAGTGAAGGTGGCCCACATTGGGCCCGTGTTCAGGGAAAGGCAAGGCGAGGGGACAGATTCCTGAGATCCTCAGGCTGCTGCCGGGTCGTGGGACGAGTCAGTACCTGGCTGGGAGAGGCACCAGGCCACCAGAGTTCCGACCCCACGTCTCCAAGTGAGTGCTGAGAGGCGCCCAGTTCTGCCAAGTAGGAACAAAGCAGACAGAGCTTGAGAGTCCAAGCAGCCTGAACAGGAGGCCCTGGCGATGAGAAGGTGTGGTTGGTGCTGGGGATGTCCAGCACCAGCCCAGGTGTGATGCTTTCTGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCG
Task1_train_23233
A sequence alteration has been identified in CTNS, CTNS-AS1 (cystinosin, lysosomal cystine transporter| CTNS antisense RNA 1) on Chromosome 17. Is it disease-inducing or harmless?
Pathogenic; Ocular cystinosis
TCAAAAAAAAAAAAAAAAAGGAAAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACGACGTCTTCTTCAGCCTGCACGCGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGCTTGGTTGGGCTCCAAGGATGAGTGAAGTTCCTATGGAGGAGGGGAGGGGCCAGGGTGGGCTCCTGGAGGGGTCAGGTCACAGAGGCCAAGGGGCATTTGAGAGGGACCCTGAGCAGGCGGGTGCAGCTGGGCTTCAGGGTGCCAGGAGGGGGCCCGCGTGCAGGCGGAGACACCTGTATTCAGCTTTGTTGCTGGAAGCCATGGGTGTCGGCAGGGCAGGGCCCCACCAAGGCTGGGTCCGGGGACCCCTGATATGACAGCTTTGCTTTCCCTTCTCTCAGGGAGTTCCCTTCACACTGTAAGGCCAGCTGGGGGCTGTCTGGCCCCACCCGTATGAACCTTCTAGGCTTTCTTAGCTTTTGGTGTGAAGCGAGAGTGAAGGTGGCCCACATTGGGCCCGTGTTCAGGGAAAGGCAAGGCGAGGGGACAGATTCCTGAGATCCTCAGGCTGCTGCCGGGTCGTGGGACGAGTCAGTACCTGGCTGGGAGAGGCACCAGGCCACCAGAGTTCCGACCCCACGTCTCCAAGTGAGTGCTGAGAGGCGCCCAGTTCTGCCAAGTAGGAACAAAGCAGACAGAGCTTGAGAGTCCAAGCAGCCTGAACAGGAGGCCCTGGCGATGAGAAGGTGTGGTTGGTGCTGGGGATGTCCAGCACCAGCCCAGGTGTGATGCTTTCTGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCG
TCAAAAAAAAAAAAAAAAAGGAAAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACAACGTCTTCTTCAGCCTGCACGCGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGCTTGGTTGGGCTCCAAGGATGAGTGAAGTTCCTATGGAGGAGGGGAGGGGCCAGGGTGGGCTCCTGGAGGGGTCAGGTCACAGAGGCCAAGGGGCATTTGAGAGGGACCCTGAGCAGGCGGGTGCAGCTGGGCTTCAGGGTGCCAGGAGGGGGCCCGCGTGCAGGCGGAGACACCTGTATTCAGCTTTGTTGCTGGAAGCCATGGGTGTCGGCAGGGCAGGGCCCCACCAAGGCTGGGTCCGGGGACCCCTGATATGACAGCTTTGCTTTCCCTTCTCTCAGGGAGTTCCCTTCACACTGTAAGGCCAGCTGGGGGCTGTCTGGCCCCACCCGTATGAACCTTCTAGGCTTTCTTAGCTTTTGGTGTGAAGCGAGAGTGAAGGTGGCCCACATTGGGCCCGTGTTCAGGGAAAGGCAAGGCGAGGGGACAGATTCCTGAGATCCTCAGGCTGCTGCCGGGTCGTGGGACGAGTCAGTACCTGGCTGGGAGAGGCACCAGGCCACCAGAGTTCCGACCCCACGTCTCCAAGTGAGTGCTGAGAGGCGCCCAGTTCTGCCAAGTAGGAACAAAGCAGACAGAGCTTGAGAGTCCAAGCAGCCTGAACAGGAGGCCCTGGCGATGAGAAGGTGTGGTTGGTGCTGGGGATGTCCAGCACCAGCCCAGGTGTGATGCTTTCTGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCG
Task1_train_23234
A mutation on Chromosome 17 affecting CTNS, CTNS-AS1 (cystinosin, lysosomal cystine transporter| CTNS antisense RNA 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Juvenile nephropathic cystinosis
TCAAAAAAAAAAAAAAAAAGGAAAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACGACGTCTTCTTCAGCCTGCACGCGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGCTTGGTTGGGCTCCAAGGATGAGTGAAGTTCCTATGGAGGAGGGGAGGGGCCAGGGTGGGCTCCTGGAGGGGTCAGGTCACAGAGGCCAAGGGGCATTTGAGAGGGACCCTGAGCAGGCGGGTGCAGCTGGGCTTCAGGGTGCCAGGAGGGGGCCCGCGTGCAGGCGGAGACACCTGTATTCAGCTTTGTTGCTGGAAGCCATGGGTGTCGGCAGGGCAGGGCCCCACCAAGGCTGGGTCCGGGGACCCCTGATATGACAGCTTTGCTTTCCCTTCTCTCAGGGAGTTCCCTTCACACTGTAAGGCCAGCTGGGGGCTGTCTGGCCCCACCCGTATGAACCTTCTAGGCTTTCTTAGCTTTTGGTGTGAAGCGAGAGTGAAGGTGGCCCACATTGGGCCCGTGTTCAGGGAAAGGCAAGGCGAGGGGACAGATTCCTGAGATCCTCAGGCTGCTGCCGGGTCGTGGGACGAGTCAGTACCTGGCTGGGAGAGGCACCAGGCCACCAGAGTTCCGACCCCACGTCTCCAAGTGAGTGCTGAGAGGCGCCCAGTTCTGCCAAGTAGGAACAAAGCAGACAGAGCTTGAGAGTCCAAGCAGCCTGAACAGGAGGCCCTGGCGATGAGAAGGTGTGGTTGGTGCTGGGGATGTCCAGCACCAGCCCAGGTGTGATGCTTTCTGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCG
TCAAAAAAAAAAAAAAAAAGGAAAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACAACGTCTTCTTCAGCCTGCACGCGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGCTTGGTTGGGCTCCAAGGATGAGTGAAGTTCCTATGGAGGAGGGGAGGGGCCAGGGTGGGCTCCTGGAGGGGTCAGGTCACAGAGGCCAAGGGGCATTTGAGAGGGACCCTGAGCAGGCGGGTGCAGCTGGGCTTCAGGGTGCCAGGAGGGGGCCCGCGTGCAGGCGGAGACACCTGTATTCAGCTTTGTTGCTGGAAGCCATGGGTGTCGGCAGGGCAGGGCCCCACCAAGGCTGGGTCCGGGGACCCCTGATATGACAGCTTTGCTTTCCCTTCTCTCAGGGAGTTCCCTTCACACTGTAAGGCCAGCTGGGGGCTGTCTGGCCCCACCCGTATGAACCTTCTAGGCTTTCTTAGCTTTTGGTGTGAAGCGAGAGTGAAGGTGGCCCACATTGGGCCCGTGTTCAGGGAAAGGCAAGGCGAGGGGACAGATTCCTGAGATCCTCAGGCTGCTGCCGGGTCGTGGGACGAGTCAGTACCTGGCTGGGAGAGGCACCAGGCCACCAGAGTTCCGACCCCACGTCTCCAAGTGAGTGCTGAGAGGCGCCCAGTTCTGCCAAGTAGGAACAAAGCAGACAGAGCTTGAGAGTCCAAGCAGCCTGAACAGGAGGCCCTGGCGATGAGAAGGTGTGGTTGGTGCTGGGGATGTCCAGCACCAGCCCAGGTGTGATGCTTTCTGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCG
Task1_train_23235
This genomic variant is located on Chromosome 17, within the CTNS, CTNS-AS1 (cystinosin, lysosomal cystine transporter| CTNS antisense RNA 1) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Nephropathic cystinosis
TCAAAAAAAAAAAAAAAAAGGAAAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACGACGTCTTCTTCAGCCTGCACGCGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGCTTGGTTGGGCTCCAAGGATGAGTGAAGTTCCTATGGAGGAGGGGAGGGGCCAGGGTGGGCTCCTGGAGGGGTCAGGTCACAGAGGCCAAGGGGCATTTGAGAGGGACCCTGAGCAGGCGGGTGCAGCTGGGCTTCAGGGTGCCAGGAGGGGGCCCGCGTGCAGGCGGAGACACCTGTATTCAGCTTTGTTGCTGGAAGCCATGGGTGTCGGCAGGGCAGGGCCCCACCAAGGCTGGGTCCGGGGACCCCTGATATGACAGCTTTGCTTTCCCTTCTCTCAGGGAGTTCCCTTCACACTGTAAGGCCAGCTGGGGGCTGTCTGGCCCCACCCGTATGAACCTTCTAGGCTTTCTTAGCTTTTGGTGTGAAGCGAGAGTGAAGGTGGCCCACATTGGGCCCGTGTTCAGGGAAAGGCAAGGCGAGGGGACAGATTCCTGAGATCCTCAGGCTGCTGCCGGGTCGTGGGACGAGTCAGTACCTGGCTGGGAGAGGCACCAGGCCACCAGAGTTCCGACCCCACGTCTCCAAGTGAGTGCTGAGAGGCGCCCAGTTCTGCCAAGTAGGAACAAAGCAGACAGAGCTTGAGAGTCCAAGCAGCCTGAACAGGAGGCCCTGGCGATGAGAAGGTGTGGTTGGTGCTGGGGATGTCCAGCACCAGCCCAGGTGTGATGCTTTCTGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCG
TCAAAAAAAAAAAAAAAAAGGAAAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACAACGTCTTCTTCAGCCTGCACGCGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGCTTGGTTGGGCTCCAAGGATGAGTGAAGTTCCTATGGAGGAGGGGAGGGGCCAGGGTGGGCTCCTGGAGGGGTCAGGTCACAGAGGCCAAGGGGCATTTGAGAGGGACCCTGAGCAGGCGGGTGCAGCTGGGCTTCAGGGTGCCAGGAGGGGGCCCGCGTGCAGGCGGAGACACCTGTATTCAGCTTTGTTGCTGGAAGCCATGGGTGTCGGCAGGGCAGGGCCCCACCAAGGCTGGGTCCGGGGACCCCTGATATGACAGCTTTGCTTTCCCTTCTCTCAGGGAGTTCCCTTCACACTGTAAGGCCAGCTGGGGGCTGTCTGGCCCCACCCGTATGAACCTTCTAGGCTTTCTTAGCTTTTGGTGTGAAGCGAGAGTGAAGGTGGCCCACATTGGGCCCGTGTTCAGGGAAAGGCAAGGCGAGGGGACAGATTCCTGAGATCCTCAGGCTGCTGCCGGGTCGTGGGACGAGTCAGTACCTGGCTGGGAGAGGCACCAGGCCACCAGAGTTCCGACCCCACGTCTCCAAGTGAGTGCTGAGAGGCGCCCAGTTCTGCCAAGTAGGAACAAAGCAGACAGAGCTTGAGAGTCCAAGCAGCCTGAACAGGAGGCCCTGGCGATGAGAAGGTGTGGTTGGTGCTGGGGATGTCCAGCACCAGCCCAGGTGTGATGCTTTCTGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCG
Task1_train_23236
Consider a variant on Chromosome 17 in gene CTNS, CTNS-AS1 (cystinosin, lysosomal cystine transporter| CTNS antisense RNA 1). Determine its clinical classification and disease relevance.
Pathogenic; Cystinosis
TCAAAAAAAAAAAAAAAAAGGAAAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACGACGTCTTCTTCAGCCTGCACGCGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGCTTGGTTGGGCTCCAAGGATGAGTGAAGTTCCTATGGAGGAGGGGAGGGGCCAGGGTGGGCTCCTGGAGGGGTCAGGTCACAGAGGCCAAGGGGCATTTGAGAGGGACCCTGAGCAGGCGGGTGCAGCTGGGCTTCAGGGTGCCAGGAGGGGGCCCGCGTGCAGGCGGAGACACCTGTATTCAGCTTTGTTGCTGGAAGCCATGGGTGTCGGCAGGGCAGGGCCCCACCAAGGCTGGGTCCGGGGACCCCTGATATGACAGCTTTGCTTTCCCTTCTCTCAGGGAGTTCCCTTCACACTGTAAGGCCAGCTGGGGGCTGTCTGGCCCCACCCGTATGAACCTTCTAGGCTTTCTTAGCTTTTGGTGTGAAGCGAGAGTGAAGGTGGCCCACATTGGGCCCGTGTTCAGGGAAAGGCAAGGCGAGGGGACAGATTCCTGAGATCCTCAGGCTGCTGCCGGGTCGTGGGACGAGTCAGTACCTGGCTGGGAGAGGCACCAGGCCACCAGAGTTCCGACCCCACGTCTCCAAGTGAGTGCTGAGAGGCGCCCAGTTCTGCCAAGTAGGAACAAAGCAGACAGAGCTTGAGAGTCCAAGCAGCCTGAACAGGAGGCCCTGGCGATGAGAAGGTGTGGTTGGTGCTGGGGATGTCCAGCACCAGCCCAGGTGTGATGCTTTCTGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCG
TCAAAAAAAAAAAAAAAAAGGAAAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACAACGTCTTCTTCAGCCTGCACGCGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGCTTGGTTGGGCTCCAAGGATGAGTGAAGTTCCTATGGAGGAGGGGAGGGGCCAGGGTGGGCTCCTGGAGGGGTCAGGTCACAGAGGCCAAGGGGCATTTGAGAGGGACCCTGAGCAGGCGGGTGCAGCTGGGCTTCAGGGTGCCAGGAGGGGGCCCGCGTGCAGGCGGAGACACCTGTATTCAGCTTTGTTGCTGGAAGCCATGGGTGTCGGCAGGGCAGGGCCCCACCAAGGCTGGGTCCGGGGACCCCTGATATGACAGCTTTGCTTTCCCTTCTCTCAGGGAGTTCCCTTCACACTGTAAGGCCAGCTGGGGGCTGTCTGGCCCCACCCGTATGAACCTTCTAGGCTTTCTTAGCTTTTGGTGTGAAGCGAGAGTGAAGGTGGCCCACATTGGGCCCGTGTTCAGGGAAAGGCAAGGCGAGGGGACAGATTCCTGAGATCCTCAGGCTGCTGCCGGGTCGTGGGACGAGTCAGTACCTGGCTGGGAGAGGCACCAGGCCACCAGAGTTCCGACCCCACGTCTCCAAGTGAGTGCTGAGAGGCGCCCAGTTCTGCCAAGTAGGAACAAAGCAGACAGAGCTTGAGAGTCCAAGCAGCCTGAACAGGAGGCCCTGGCGATGAGAAGGTGTGGTTGGTGCTGGGGATGTCCAGCACCAGCCCAGGTGTGATGCTTTCTGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCG
Task1_train_23237
The gene CTNS, CTNS-AS1 (cystinosin, lysosomal cystine transporter| CTNS antisense RNA 1) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Inborn genetic diseases
AAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACGACGTCTTCTTCAGCCTGCACGCGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGCTTGGTTGGGCTCCAAGGATGAGTGAAGTTCCTATGGAGGAGGGGAGGGGCCAGGGTGGGCTCCTGGAGGGGTCAGGTCACAGAGGCCAAGGGGCATTTGAGAGGGACCCTGAGCAGGCGGGTGCAGCTGGGCTTCAGGGTGCCAGGAGGGGGCCCGCGTGCAGGCGGAGACACCTGTATTCAGCTTTGTTGCTGGAAGCCATGGGTGTCGGCAGGGCAGGGCCCCACCAAGGCTGGGTCCGGGGACCCCTGATATGACAGCTTTGCTTTCCCTTCTCTCAGGGAGTTCCCTTCACACTGTAAGGCCAGCTGGGGGCTGTCTGGCCCCACCCGTATGAACCTTCTAGGCTTTCTTAGCTTTTGGTGTGAAGCGAGAGTGAAGGTGGCCCACATTGGGCCCGTGTTCAGGGAAAGGCAAGGCGAGGGGACAGATTCCTGAGATCCTCAGGCTGCTGCCGGGTCGTGGGACGAGTCAGTACCTGGCTGGGAGAGGCACCAGGCCACCAGAGTTCCGACCCCACGTCTCCAAGTGAGTGCTGAGAGGCGCCCAGTTCTGCCAAGTAGGAACAAAGCAGACAGAGCTTGAGAGTCCAAGCAGCCTGAACAGGAGGCCCTGGCGATGAGAAGGTGTGGTTGGTGCTGGGGATGTCCAGCACCAGCCCAGGTGTGATGCTTTCTGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTG
AAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACGACGTCTTCTTCAGCCTGCACGTGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGCTTGGTTGGGCTCCAAGGATGAGTGAAGTTCCTATGGAGGAGGGGAGGGGCCAGGGTGGGCTCCTGGAGGGGTCAGGTCACAGAGGCCAAGGGGCATTTGAGAGGGACCCTGAGCAGGCGGGTGCAGCTGGGCTTCAGGGTGCCAGGAGGGGGCCCGCGTGCAGGCGGAGACACCTGTATTCAGCTTTGTTGCTGGAAGCCATGGGTGTCGGCAGGGCAGGGCCCCACCAAGGCTGGGTCCGGGGACCCCTGATATGACAGCTTTGCTTTCCCTTCTCTCAGGGAGTTCCCTTCACACTGTAAGGCCAGCTGGGGGCTGTCTGGCCCCACCCGTATGAACCTTCTAGGCTTTCTTAGCTTTTGGTGTGAAGCGAGAGTGAAGGTGGCCCACATTGGGCCCGTGTTCAGGGAAAGGCAAGGCGAGGGGACAGATTCCTGAGATCCTCAGGCTGCTGCCGGGTCGTGGGACGAGTCAGTACCTGGCTGGGAGAGGCACCAGGCCACCAGAGTTCCGACCCCACGTCTCCAAGTGAGTGCTGAGAGGCGCCCAGTTCTGCCAAGTAGGAACAAAGCAGACAGAGCTTGAGAGTCCAAGCAGCCTGAACAGGAGGCCCTGGCGATGAGAAGGTGTGGTTGGTGCTGGGGATGTCCAGCACCAGCCCAGGTGTGATGCTTTCTGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTG
Task1_train_23238
A change on Chromosome 17 affects gene CTNS, CTNS-AS1 (cystinosin, lysosomal cystine transporter| CTNS antisense RNA 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Ocular cystinosis
AAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACGACGTCTTCTTCAGCCTGCACGCGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGCTTGGTTGGGCTCCAAGGATGAGTGAAGTTCCTATGGAGGAGGGGAGGGGCCAGGGTGGGCTCCTGGAGGGGTCAGGTCACAGAGGCCAAGGGGCATTTGAGAGGGACCCTGAGCAGGCGGGTGCAGCTGGGCTTCAGGGTGCCAGGAGGGGGCCCGCGTGCAGGCGGAGACACCTGTATTCAGCTTTGTTGCTGGAAGCCATGGGTGTCGGCAGGGCAGGGCCCCACCAAGGCTGGGTCCGGGGACCCCTGATATGACAGCTTTGCTTTCCCTTCTCTCAGGGAGTTCCCTTCACACTGTAAGGCCAGCTGGGGGCTGTCTGGCCCCACCCGTATGAACCTTCTAGGCTTTCTTAGCTTTTGGTGTGAAGCGAGAGTGAAGGTGGCCCACATTGGGCCCGTGTTCAGGGAAAGGCAAGGCGAGGGGACAGATTCCTGAGATCCTCAGGCTGCTGCCGGGTCGTGGGACGAGTCAGTACCTGGCTGGGAGAGGCACCAGGCCACCAGAGTTCCGACCCCACGTCTCCAAGTGAGTGCTGAGAGGCGCCCAGTTCTGCCAAGTAGGAACAAAGCAGACAGAGCTTGAGAGTCCAAGCAGCCTGAACAGGAGGCCCTGGCGATGAGAAGGTGTGGTTGGTGCTGGGGATGTCCAGCACCAGCCCAGGTGTGATGCTTTCTGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTG
AAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACGACGTCTTCTTCAGCCTGCACGTGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGCTTGGTTGGGCTCCAAGGATGAGTGAAGTTCCTATGGAGGAGGGGAGGGGCCAGGGTGGGCTCCTGGAGGGGTCAGGTCACAGAGGCCAAGGGGCATTTGAGAGGGACCCTGAGCAGGCGGGTGCAGCTGGGCTTCAGGGTGCCAGGAGGGGGCCCGCGTGCAGGCGGAGACACCTGTATTCAGCTTTGTTGCTGGAAGCCATGGGTGTCGGCAGGGCAGGGCCCCACCAAGGCTGGGTCCGGGGACCCCTGATATGACAGCTTTGCTTTCCCTTCTCTCAGGGAGTTCCCTTCACACTGTAAGGCCAGCTGGGGGCTGTCTGGCCCCACCCGTATGAACCTTCTAGGCTTTCTTAGCTTTTGGTGTGAAGCGAGAGTGAAGGTGGCCCACATTGGGCCCGTGTTCAGGGAAAGGCAAGGCGAGGGGACAGATTCCTGAGATCCTCAGGCTGCTGCCGGGTCGTGGGACGAGTCAGTACCTGGCTGGGAGAGGCACCAGGCCACCAGAGTTCCGACCCCACGTCTCCAAGTGAGTGCTGAGAGGCGCCCAGTTCTGCCAAGTAGGAACAAAGCAGACAGAGCTTGAGAGTCCAAGCAGCCTGAACAGGAGGCCCTGGCGATGAGAAGGTGTGGTTGGTGCTGGGGATGTCCAGCACCAGCCCAGGTGTGATGCTTTCTGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTG
Task1_train_23239
Gene CTNS, CTNS-AS1 (cystinosin, lysosomal cystine transporter| CTNS antisense RNA 1) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Juvenile nephropathic cystinosis
AAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACGACGTCTTCTTCAGCCTGCACGCGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGCTTGGTTGGGCTCCAAGGATGAGTGAAGTTCCTATGGAGGAGGGGAGGGGCCAGGGTGGGCTCCTGGAGGGGTCAGGTCACAGAGGCCAAGGGGCATTTGAGAGGGACCCTGAGCAGGCGGGTGCAGCTGGGCTTCAGGGTGCCAGGAGGGGGCCCGCGTGCAGGCGGAGACACCTGTATTCAGCTTTGTTGCTGGAAGCCATGGGTGTCGGCAGGGCAGGGCCCCACCAAGGCTGGGTCCGGGGACCCCTGATATGACAGCTTTGCTTTCCCTTCTCTCAGGGAGTTCCCTTCACACTGTAAGGCCAGCTGGGGGCTGTCTGGCCCCACCCGTATGAACCTTCTAGGCTTTCTTAGCTTTTGGTGTGAAGCGAGAGTGAAGGTGGCCCACATTGGGCCCGTGTTCAGGGAAAGGCAAGGCGAGGGGACAGATTCCTGAGATCCTCAGGCTGCTGCCGGGTCGTGGGACGAGTCAGTACCTGGCTGGGAGAGGCACCAGGCCACCAGAGTTCCGACCCCACGTCTCCAAGTGAGTGCTGAGAGGCGCCCAGTTCTGCCAAGTAGGAACAAAGCAGACAGAGCTTGAGAGTCCAAGCAGCCTGAACAGGAGGCCCTGGCGATGAGAAGGTGTGGTTGGTGCTGGGGATGTCCAGCACCAGCCCAGGTGTGATGCTTTCTGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTG
AAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACGACGTCTTCTTCAGCCTGCACGTGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGCTTGGTTGGGCTCCAAGGATGAGTGAAGTTCCTATGGAGGAGGGGAGGGGCCAGGGTGGGCTCCTGGAGGGGTCAGGTCACAGAGGCCAAGGGGCATTTGAGAGGGACCCTGAGCAGGCGGGTGCAGCTGGGCTTCAGGGTGCCAGGAGGGGGCCCGCGTGCAGGCGGAGACACCTGTATTCAGCTTTGTTGCTGGAAGCCATGGGTGTCGGCAGGGCAGGGCCCCACCAAGGCTGGGTCCGGGGACCCCTGATATGACAGCTTTGCTTTCCCTTCTCTCAGGGAGTTCCCTTCACACTGTAAGGCCAGCTGGGGGCTGTCTGGCCCCACCCGTATGAACCTTCTAGGCTTTCTTAGCTTTTGGTGTGAAGCGAGAGTGAAGGTGGCCCACATTGGGCCCGTGTTCAGGGAAAGGCAAGGCGAGGGGACAGATTCCTGAGATCCTCAGGCTGCTGCCGGGTCGTGGGACGAGTCAGTACCTGGCTGGGAGAGGCACCAGGCCACCAGAGTTCCGACCCCACGTCTCCAAGTGAGTGCTGAGAGGCGCCCAGTTCTGCCAAGTAGGAACAAAGCAGACAGAGCTTGAGAGTCCAAGCAGCCTGAACAGGAGGCCCTGGCGATGAGAAGGTGTGGTTGGTGCTGGGGATGTCCAGCACCAGCCCAGGTGTGATGCTTTCTGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTG
Task1_train_23240
Here is a mutation in CTNS, CTNS-AS1 (cystinosin, lysosomal cystine transporter| CTNS antisense RNA 1) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Ocular cystinosis
AAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACGACGTCTTCTTCAGCCTGCACGCGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGCTTGGTTGGGCTCCAAGGATGAGTGAAGTTCCTATGGAGGAGGGGAGGGGCCAGGGTGGGCTCCTGGAGGGGTCAGGTCACAGAGGCCAAGGGGCATTTGAGAGGGACCCTGAGCAGGCGGGTGCAGCTGGGCTTCAGGGTGCCAGGAGGGGGCCCGCGTGCAGGCGGAGACACCTGTATTCAGCTTTGTTGCTGGAAGCCATGGGTGTCGGCAGGGCAGGGCCCCACCAAGGCTGGGTCCGGGGACCCCTGATATGACAGCTTTGCTTTCCCTTCTCTCAGGGAGTTCCCTTCACACTGTAAGGCCAGCTGGGGGCTGTCTGGCCCCACCCGTATGAACCTTCTAGGCTTTCTTAGCTTTTGGTGTGAAGCGAGAGTGAAGGTGGCCCACATTGGGCCCGTGTTCAGGGAAAGGCAAGGCGAGGGGACAGATTCCTGAGATCCTCAGGCTGCTGCCGGGTCGTGGGACGAGTCAGTACCTGGCTGGGAGAGGCACCAGGCCACCAGAGTTCCGACCCCACGTCTCCAAGTGAGTGCTGAGAGGCGCCCAGTTCTGCCAAGTAGGAACAAAGCAGACAGAGCTTGAGAGTCCAAGCAGCCTGAACAGGAGGCCCTGGCGATGAGAAGGTGTGGTTGGTGCTGGGGATGTCCAGCACCAGCCCAGGTGTGATGCTTTCTGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTG
AAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACGACGTCTTCTTCAGCCTGCACGTGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGCTTGGTTGGGCTCCAAGGATGAGTGAAGTTCCTATGGAGGAGGGGAGGGGCCAGGGTGGGCTCCTGGAGGGGTCAGGTCACAGAGGCCAAGGGGCATTTGAGAGGGACCCTGAGCAGGCGGGTGCAGCTGGGCTTCAGGGTGCCAGGAGGGGGCCCGCGTGCAGGCGGAGACACCTGTATTCAGCTTTGTTGCTGGAAGCCATGGGTGTCGGCAGGGCAGGGCCCCACCAAGGCTGGGTCCGGGGACCCCTGATATGACAGCTTTGCTTTCCCTTCTCTCAGGGAGTTCCCTTCACACTGTAAGGCCAGCTGGGGGCTGTCTGGCCCCACCCGTATGAACCTTCTAGGCTTTCTTAGCTTTTGGTGTGAAGCGAGAGTGAAGGTGGCCCACATTGGGCCCGTGTTCAGGGAAAGGCAAGGCGAGGGGACAGATTCCTGAGATCCTCAGGCTGCTGCCGGGTCGTGGGACGAGTCAGTACCTGGCTGGGAGAGGCACCAGGCCACCAGAGTTCCGACCCCACGTCTCCAAGTGAGTGCTGAGAGGCGCCCAGTTCTGCCAAGTAGGAACAAAGCAGACAGAGCTTGAGAGTCCAAGCAGCCTGAACAGGAGGCCCTGGCGATGAGAAGGTGTGGTTGGTGCTGGGGATGTCCAGCACCAGCCCAGGTGTGATGCTTTCTGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTG
Task1_train_23241
This alteration in CTNS, CTNS-AS1 (cystinosin, lysosomal cystine transporter| CTNS antisense RNA 1) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Juvenile nephropathic cystinosis
AAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACGACGTCTTCTTCAGCCTGCACGCGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGCTTGGTTGGGCTCCAAGGATGAGTGAAGTTCCTATGGAGGAGGGGAGGGGCCAGGGTGGGCTCCTGGAGGGGTCAGGTCACAGAGGCCAAGGGGCATTTGAGAGGGACCCTGAGCAGGCGGGTGCAGCTGGGCTTCAGGGTGCCAGGAGGGGGCCCGCGTGCAGGCGGAGACACCTGTATTCAGCTTTGTTGCTGGAAGCCATGGGTGTCGGCAGGGCAGGGCCCCACCAAGGCTGGGTCCGGGGACCCCTGATATGACAGCTTTGCTTTCCCTTCTCTCAGGGAGTTCCCTTCACACTGTAAGGCCAGCTGGGGGCTGTCTGGCCCCACCCGTATGAACCTTCTAGGCTTTCTTAGCTTTTGGTGTGAAGCGAGAGTGAAGGTGGCCCACATTGGGCCCGTGTTCAGGGAAAGGCAAGGCGAGGGGACAGATTCCTGAGATCCTCAGGCTGCTGCCGGGTCGTGGGACGAGTCAGTACCTGGCTGGGAGAGGCACCAGGCCACCAGAGTTCCGACCCCACGTCTCCAAGTGAGTGCTGAGAGGCGCCCAGTTCTGCCAAGTAGGAACAAAGCAGACAGAGCTTGAGAGTCCAAGCAGCCTGAACAGGAGGCCCTGGCGATGAGAAGGTGTGGTTGGTGCTGGGGATGTCCAGCACCAGCCCAGGTGTGATGCTTTCTGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTG
AAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACGACGTCTTCTTCAGCCTGCACGTGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGCTTGGTTGGGCTCCAAGGATGAGTGAAGTTCCTATGGAGGAGGGGAGGGGCCAGGGTGGGCTCCTGGAGGGGTCAGGTCACAGAGGCCAAGGGGCATTTGAGAGGGACCCTGAGCAGGCGGGTGCAGCTGGGCTTCAGGGTGCCAGGAGGGGGCCCGCGTGCAGGCGGAGACACCTGTATTCAGCTTTGTTGCTGGAAGCCATGGGTGTCGGCAGGGCAGGGCCCCACCAAGGCTGGGTCCGGGGACCCCTGATATGACAGCTTTGCTTTCCCTTCTCTCAGGGAGTTCCCTTCACACTGTAAGGCCAGCTGGGGGCTGTCTGGCCCCACCCGTATGAACCTTCTAGGCTTTCTTAGCTTTTGGTGTGAAGCGAGAGTGAAGGTGGCCCACATTGGGCCCGTGTTCAGGGAAAGGCAAGGCGAGGGGACAGATTCCTGAGATCCTCAGGCTGCTGCCGGGTCGTGGGACGAGTCAGTACCTGGCTGGGAGAGGCACCAGGCCACCAGAGTTCCGACCCCACGTCTCCAAGTGAGTGCTGAGAGGCGCCCAGTTCTGCCAAGTAGGAACAAAGCAGACAGAGCTTGAGAGTCCAAGCAGCCTGAACAGGAGGCCCTGGCGATGAGAAGGTGTGGTTGGTGCTGGGGATGTCCAGCACCAGCCCAGGTGTGATGCTTTCTGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTG
Task1_train_23242
Given a variant located on Chromosome 17 and affecting CTNS, CTNS-AS1 (cystinosin, lysosomal cystine transporter| CTNS antisense RNA 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Nephropathic cystinosis
AAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACGACGTCTTCTTCAGCCTGCACGCGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGCTTGGTTGGGCTCCAAGGATGAGTGAAGTTCCTATGGAGGAGGGGAGGGGCCAGGGTGGGCTCCTGGAGGGGTCAGGTCACAGAGGCCAAGGGGCATTTGAGAGGGACCCTGAGCAGGCGGGTGCAGCTGGGCTTCAGGGTGCCAGGAGGGGGCCCGCGTGCAGGCGGAGACACCTGTATTCAGCTTTGTTGCTGGAAGCCATGGGTGTCGGCAGGGCAGGGCCCCACCAAGGCTGGGTCCGGGGACCCCTGATATGACAGCTTTGCTTTCCCTTCTCTCAGGGAGTTCCCTTCACACTGTAAGGCCAGCTGGGGGCTGTCTGGCCCCACCCGTATGAACCTTCTAGGCTTTCTTAGCTTTTGGTGTGAAGCGAGAGTGAAGGTGGCCCACATTGGGCCCGTGTTCAGGGAAAGGCAAGGCGAGGGGACAGATTCCTGAGATCCTCAGGCTGCTGCCGGGTCGTGGGACGAGTCAGTACCTGGCTGGGAGAGGCACCAGGCCACCAGAGTTCCGACCCCACGTCTCCAAGTGAGTGCTGAGAGGCGCCCAGTTCTGCCAAGTAGGAACAAAGCAGACAGAGCTTGAGAGTCCAAGCAGCCTGAACAGGAGGCCCTGGCGATGAGAAGGTGTGGTTGGTGCTGGGGATGTCCAGCACCAGCCCAGGTGTGATGCTTTCTGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTG
AAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACGACGTCTTCTTCAGCCTGCACGTGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGCTTGGTTGGGCTCCAAGGATGAGTGAAGTTCCTATGGAGGAGGGGAGGGGCCAGGGTGGGCTCCTGGAGGGGTCAGGTCACAGAGGCCAAGGGGCATTTGAGAGGGACCCTGAGCAGGCGGGTGCAGCTGGGCTTCAGGGTGCCAGGAGGGGGCCCGCGTGCAGGCGGAGACACCTGTATTCAGCTTTGTTGCTGGAAGCCATGGGTGTCGGCAGGGCAGGGCCCCACCAAGGCTGGGTCCGGGGACCCCTGATATGACAGCTTTGCTTTCCCTTCTCTCAGGGAGTTCCCTTCACACTGTAAGGCCAGCTGGGGGCTGTCTGGCCCCACCCGTATGAACCTTCTAGGCTTTCTTAGCTTTTGGTGTGAAGCGAGAGTGAAGGTGGCCCACATTGGGCCCGTGTTCAGGGAAAGGCAAGGCGAGGGGACAGATTCCTGAGATCCTCAGGCTGCTGCCGGGTCGTGGGACGAGTCAGTACCTGGCTGGGAGAGGCACCAGGCCACCAGAGTTCCGACCCCACGTCTCCAAGTGAGTGCTGAGAGGCGCCCAGTTCTGCCAAGTAGGAACAAAGCAGACAGAGCTTGAGAGTCCAAGCAGCCTGAACAGGAGGCCCTGGCGATGAGAAGGTGTGGTTGGTGCTGGGGATGTCCAGCACCAGCCCAGGTGTGATGCTTTCTGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTG
Task1_train_23243
A mutation on Chromosome 17 affecting CTNS (cystinosin, lysosomal cystine transporter) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Cystinosis
GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATG
GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCAGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATG
Task1_train_23244
A genomic change on Chromosome 17 affects CTNS (cystinosin, lysosomal cystine transporter). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Nephropathic cystinosis
GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATG
GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCAGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATG
Task1_train_23245
This variant affects the gene CTNS (cystinosin, lysosomal cystine transporter) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Ocular cystinosis
GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATG
GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCAGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATG
Task1_train_23246
The gene CTNS (cystinosin, lysosomal cystine transporter) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Juvenile nephropathic cystinosis
GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATG
GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCAGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATG
Task1_train_23247
Gene CTNS (cystinosin, lysosomal cystine transporter) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Inborn genetic diseases
GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATG
GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCAGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATG
Task1_train_23248
Here’s a variant in CTNS (cystinosin, lysosomal cystine transporter) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Ocular cystinosis
GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATG
GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCAGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATG
Task1_train_23249
This is a variant in CTNS (cystinosin, lysosomal cystine transporter), located on Chromosome 17. Is this mutation a likely cause of disease or not?
Pathogenic; Juvenile nephropathic cystinosis
GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATG
GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCAGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATG
Task1_train_23250
This is a variant in CTNS (cystinosin, lysosomal cystine transporter), located on Chromosome 17. Is this mutation a likely cause of disease or not?
Pathogenic; Nephropathic cystinosis
GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATG
GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCAGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATG
Task1_train_23251
Given this variant in gene CTNS (cystinosin, lysosomal cystine transporter) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Inborn genetic diseases
GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATG
GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCCGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATG
Task1_train_23252
A genomic change on Chromosome 17 affects CTNS (cystinosin, lysosomal cystine transporter). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Ocular cystinosis
GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATG
GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCCGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATG
Task1_train_23253
Chromosome 17 houses a mutation in gene CTNS (cystinosin, lysosomal cystine transporter). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Juvenile nephropathic cystinosis
GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATG
GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCCGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATG
Task1_train_23254
This mutation is located in gene CTNS (cystinosin, lysosomal cystine transporter) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Ocular cystinosis
CTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGT
CTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGTGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGT
Task1_train_23255
This genomic variant is located on Chromosome 17, within the CTNS (cystinosin, lysosomal cystine transporter) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Juvenile nephropathic cystinosis
CTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGT
CTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGTGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGT
Task1_train_23256
This variant affects gene CTNS (cystinosin, lysosomal cystine transporter) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
Pathogenic; Inborn genetic diseases
CTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGT
CTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGTGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGT
Task1_train_23257
A variant was discovered in gene CTNS (cystinosin, lysosomal cystine transporter), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Ocular cystinosis
CCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGA
CCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAAGGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGA
Task1_train_23258
A mutation in CTNS (cystinosin, lysosomal cystine transporter), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Juvenile nephropathic cystinosis
CCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGA
CCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAAGGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGA
Task1_train_23259
This variant affects gene CTNS (cystinosin, lysosomal cystine transporter) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
Pathogenic; Inborn genetic diseases
CCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGA
CCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAAGGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGA
Task1_train_23260
Assess the clinical impact of this variant on gene CTNS (cystinosin, lysosomal cystine transporter), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Nephropathic cystinosis
CCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGA
CCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAAGGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGA
Task1_train_23261
A genomic change on Chromosome 17 affects CTNS (cystinosin, lysosomal cystine transporter). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Ocular cystinosis
CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGACTTTTCCGGCTGAGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACCTGACATCAGGAGTTCGAGACCAGCCTAGCCAACATTGCAAAACCCCATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGTTGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCGAAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAT
CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCAGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGACTTTTCCGGCTGAGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACCTGACATCAGGAGTTCGAGACCAGCCTAGCCAACATTGCAAAACCCCATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGTTGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCGAAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAT
Task1_train_23262
The gene CTNS (cystinosin, lysosomal cystine transporter) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Juvenile nephropathic cystinosis
CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGACTTTTCCGGCTGAGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACCTGACATCAGGAGTTCGAGACCAGCCTAGCCAACATTGCAAAACCCCATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGTTGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCGAAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAT
CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCAGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGACTTTTCCGGCTGAGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACCTGACATCAGGAGTTCGAGACCAGCCTAGCCAACATTGCAAAACCCCATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGTTGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCGAAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAT
Task1_train_23263
The gene CTNS (cystinosin, lysosomal cystine transporter) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Nephropathic cystinosis
CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGACTTTTCCGGCTGAGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACCTGACATCAGGAGTTCGAGACCAGCCTAGCCAACATTGCAAAACCCCATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGTTGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCGAAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAT
CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCAGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGACTTTTCCGGCTGAGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACCTGACATCAGGAGTTCGAGACCAGCCTAGCCAACATTGCAAAACCCCATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGTTGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCGAAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAT
Task1_train_23264
This variant lies on Chromosome 17 and affects the gene CTNS (cystinosin, lysosomal cystine transporter). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Ocular cystinosis
CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGACTTTTCCGGCTGAGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACCTGACATCAGGAGTTCGAGACCAGCCTAGCCAACATTGCAAAACCCCATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGTTGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCGAAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAT
CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCAGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGACTTTTCCGGCTGAGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACCTGACATCAGGAGTTCGAGACCAGCCTAGCCAACATTGCAAAACCCCATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGTTGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCGAAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAT
Task1_train_23265
The variant affects gene CTNS (cystinosin, lysosomal cystine transporter), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Juvenile nephropathic cystinosis
CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGACTTTTCCGGCTGAGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACCTGACATCAGGAGTTCGAGACCAGCCTAGCCAACATTGCAAAACCCCATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGTTGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCGAAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAT
CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCAGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGACTTTTCCGGCTGAGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACCTGACATCAGGAGTTCGAGACCAGCCTAGCCAACATTGCAAAACCCCATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGTTGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCGAAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAT
Task1_train_23266
A change on Chromosome 17 affects gene CTNS (cystinosin, lysosomal cystine transporter). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Inborn genetic diseases
CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGACTTTTCCGGCTGAGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACCTGACATCAGGAGTTCGAGACCAGCCTAGCCAACATTGCAAAACCCCATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGTTGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCGAAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAT
CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCAGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGACTTTTCCGGCTGAGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACCTGACATCAGGAGTTCGAGACCAGCCTAGCCAACATTGCAAAACCCCATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGTTGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCGAAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAT
Task1_train_23267
A mutation in CTNS (cystinosin, lysosomal cystine transporter), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Cystinosis
CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGACTTTTCCGGCTGAGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACCTGACATCAGGAGTTCGAGACCAGCCTAGCCAACATTGCAAAACCCCATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGTTGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCGAAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAT
CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCAGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGACTTTTCCGGCTGAGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACCTGACATCAGGAGTTCGAGACCAGCCTAGCCAACATTGCAAAACCCCATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGTTGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCGAAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAT
Task1_train_23268
Given this context: Chromosome 17, gene CTNS (cystinosin, lysosomal cystine transporter) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Nephropathic cystinosis
CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGACTTTTCCGGCTGAGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACCTGACATCAGGAGTTCGAGACCAGCCTAGCCAACATTGCAAAACCCCATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGTTGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCGAAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAT
CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCAGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGACTTTTCCGGCTGAGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACCTGACATCAGGAGTTCGAGACCAGCCTAGCCAACATTGCAAAACCCCATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGTTGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCGAAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAT
Task1_train_23269
Here is a mutation in CHRNE (cholinergic receptor nicotinic epsilon subunit) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Congenital myasthenic syndrome 4A
GACTTCCCAGCTGGCCCCCAGGGGGCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGCCACCCCTTCTTCCCTTCTTTCCCTCTCCCAGTTGAGACACCCCCCCAACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACAGCTTCCCCTTCCCAGGAATTGAGTGGGCCTAGCCCCTCCCCCCTTTTCTCCATTTGAGAGGAGAGTGCTTGGGGCTTGAACCCCTTACCCCACTGCTGCTGACTGGGCAGGGCCCTGGACCCCTTTATTTGCACGTCAGGGGAGCCGGCTCCCCCCTTGAATGTACCAGACCCTGGGGGGGGTCACTGGGCCCTAGATTTTTGGGGGGTCACCAGCCACTCCAGGGGCAGGGACCATTTCTTCATTTTCTGAAAGCACTTTAATGATTCCCCTTCCCCCAAACTCCAGGGAATGGAGGGGGGACCCCGCCAGCCAAAACATTCCCCCCATTCCCGACCCCCCTCTCCTCTTCTAGCCCATGCCCTTCCCCGGTGGAGGGAGGGAGCAGGGAGCCCTCACTCTCCACGCCCCTTGCTTGCATCTGTATATAGTGTGAGCAGCAAGTAACCCTTCTCCCTCCCCCCCCACCCCTCCTCAATGTAGTGGCCTTGGATATCCTGTTTGTTAATAAAGACAATTCAACCAGCTCCCACCATGCAGGCCGCATGTCCTTGCTTTCTGTCAGTACTGTAGACTAGGCAGAGAGAGCCTCCAGGGTGGGGAAGAAAGGGGCAGGGTGGGCTGGGATCTGCAATGAGTGAGCCTCATGGGGTGGGATGGGCAGTGCTGGGCCAAGAAAACCTAGAAGAAATGACTGTGGAAGGGTCAGGGCAGCCTCAGCCTTAAACCTGTGGGCCTGAGGGCCACCAGCACTGAAGGTGTTTGGTTCCCACCCGCTCCAGCAGAGCCAGACCAGGGAAGAAGAGGGTTTCCTGGCTACAGCCTCCCTGTGTGCAAGTCCTGCAAAGGGGTCTCCTGTTTGGCTATGAAATGAATATAGATAGATAGCTCACAAGCTGGCAGCCACCAGAGTCCCGTGGGGCTGAGCCTTAGAAAGGCTGGGAGGTCAGCAAGGCTGAATGAAGGGCAGTCCTTGCTTTCTGGAAGACTGGCACCTGAGAGCCTATGTGAACCCTTTCCTCCTGCTGACCCCTGGACTGCGGCCAGGCCTACACACGCCAGGGAACGGGCACACACCATTCTTGTGAAGTTCACAAACTGCAGATTGATCAGCAGGGGGAAGGGATCATAATGCCGTGGTGGCGGCAGCCTACTTTTTCAAAATCAATTTCCTACTGGAGATGGGTGGGAAATTGAAGTCGGTGCGAGCTAAGGCTGGATACACGGCGCGTAGGGGAGATCAGGCACTCGGTTGAAGTAGGCCCCGAGGAAGATGAGGCTGGAGCCCACGCTGAAGAGCACCAGAGCGGCCCAGAAGCAGATGTTGTCAAGGGCATTCCCCATGCGCACCCAGTCGGACACTTCCTGGGGAAGGGTCGGCACAGTCAGTAAAGAGGCAGCTGCAGGAGCCAGCGGCATGGGAGACAGTGGTGGGCCTCTGCCTCGCTCCACCCGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCG
GACTTCCCAGCTGGCCCCCAGGGGGCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGCCACCCCTTCTTCCCTTCTTTCCCTCTCCCAGTTGAGACACCCCCCCAACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACAGCTTCCCCTTCCCAGGAATTGAGTGGGCCTAGCCCCTCCCCCCTTTTCTCCATTTGAGAGGAGAGTGCTTGGGGCTTGAACCCCTTACCCCACTGCTGCTGACTGGGCAGGGCCCTGGACCCCTTTATTTGCACGTCAGGGGAGCCGGCTCCCCCCTTGAATGTACCAGACCCTGGGGGGGGTCACTGGGCCCTAGATTTTTGGGGGGTCACCAGCCACTCCAGGGGCAGGGACCATTTCTTCATTTTCTGAAAGCACTTTAATGATTCCCCTTCCCCCAAACTCCAGGGAATGGAGGGGGGACCCCGCCAGCCAAAACATTCCCCCCATTCCCGACCCCCCTCTCCTCTTCTAGCCCATGCCCTTCCCCGGTGGAGGGAGGGAGCAGGGAGCCCTCACTCTCCACGCCCCTTGCTTGCATCTGTATATAGTGTGAGCAGCAAGTAACCCTTCTCCCTCCCCCCCCACCCCTCCTCAATGTAGTGGCCTTGGATATCCTGTTTGTTAATAAAGACAATTCAACCAGCTCCCACCATGCAGGCCGCATGTCCTTGCTTTCTGTCAGTACTGTAGACTAGGCAGAGAGAGCCTCCAGGGTGGGGAAGAAAGGGGCAGGGTGGGCTGGGATCTGCAATGAGTGAGCCTCATGGGGTGGGATGGGCAGTGCTGGGCCAAGAAAACCTAGAAGAAATGACTGTGGAAGGGTCAGGGCAGCCTCAGCCTTAAACCTGTGGGCCTGAGGGCCACCAGCACTGAAGGTGTTTGGTTCCCACCCGCTCCAGCAGAGCCAGACCAGGGAAGAAGAGGGTTTCCTGGCTACAGCCTCCCTGTGTGCAAGTCCTGCAAAGGGGTCTCCTGTTTGGCTATGAAATGAATATAGATAGATAGCTCACAAGCTGGCAGCCACCAGAGTCCCGTGGGGCTGAGCCTTAGAAAGGCTGGGAGGTCAGCAAGGCTGAATGAAGGGCAGTCCTTGCTTTCTGGAAGACTGGCACCTGAGAGCCTATGTGAACCCTTTCCTCCTGCTGACCCCTGGACTGCGGCCAGGCCTACACACGCCAGGGAACGGGCACACACCATTCTTGTGAAGTTCACAAACTGCAGATTGATCAGCAGGGGGAAGGGATCATAATGCCGTGGTGGCGGCAGCCTACTTTTTCAAAATCAATTTCCTACTGGAGATGGGTGGGAAATTGAAGTCGGTGCGAGCTAAGGCTGGATACACGGCGCGTAGGGGAGATCAGGCACTCGGTTGAAGTAGGCCCCGAGGAAGATGAGGCTGGAGCCCACGCTGAAGAGCACCAGAGCGGCCCAGAAGCAGATGTTGTCAAGGGCATTCCCCATGCGCACCCAGTCGGACACTTCCTGGGGAAGGGTCGGCACAGTCAGTAAAGAGGCAGCTGCAGGAGCCAGCGGCATGGGAGACAGTGGTGGGCCTCTGCCTCGCTCCACCCGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGGCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCG
Task1_train_23270
Given a variant located on Chromosome 17 and affecting CHRNE (cholinergic receptor nicotinic epsilon subunit), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Congenital myasthenic syndrome 4A
GACTTCCCAGCTGGCCCCCAGGGGGCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGCCACCCCTTCTTCCCTTCTTTCCCTCTCCCAGTTGAGACACCCCCCCAACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACAGCTTCCCCTTCCCAGGAATTGAGTGGGCCTAGCCCCTCCCCCCTTTTCTCCATTTGAGAGGAGAGTGCTTGGGGCTTGAACCCCTTACCCCACTGCTGCTGACTGGGCAGGGCCCTGGACCCCTTTATTTGCACGTCAGGGGAGCCGGCTCCCCCCTTGAATGTACCAGACCCTGGGGGGGGTCACTGGGCCCTAGATTTTTGGGGGGTCACCAGCCACTCCAGGGGCAGGGACCATTTCTTCATTTTCTGAAAGCACTTTAATGATTCCCCTTCCCCCAAACTCCAGGGAATGGAGGGGGGACCCCGCCAGCCAAAACATTCCCCCCATTCCCGACCCCCCTCTCCTCTTCTAGCCCATGCCCTTCCCCGGTGGAGGGAGGGAGCAGGGAGCCCTCACTCTCCACGCCCCTTGCTTGCATCTGTATATAGTGTGAGCAGCAAGTAACCCTTCTCCCTCCCCCCCCACCCCTCCTCAATGTAGTGGCCTTGGATATCCTGTTTGTTAATAAAGACAATTCAACCAGCTCCCACCATGCAGGCCGCATGTCCTTGCTTTCTGTCAGTACTGTAGACTAGGCAGAGAGAGCCTCCAGGGTGGGGAAGAAAGGGGCAGGGTGGGCTGGGATCTGCAATGAGTGAGCCTCATGGGGTGGGATGGGCAGTGCTGGGCCAAGAAAACCTAGAAGAAATGACTGTGGAAGGGTCAGGGCAGCCTCAGCCTTAAACCTGTGGGCCTGAGGGCCACCAGCACTGAAGGTGTTTGGTTCCCACCCGCTCCAGCAGAGCCAGACCAGGGAAGAAGAGGGTTTCCTGGCTACAGCCTCCCTGTGTGCAAGTCCTGCAAAGGGGTCTCCTGTTTGGCTATGAAATGAATATAGATAGATAGCTCACAAGCTGGCAGCCACCAGAGTCCCGTGGGGCTGAGCCTTAGAAAGGCTGGGAGGTCAGCAAGGCTGAATGAAGGGCAGTCCTTGCTTTCTGGAAGACTGGCACCTGAGAGCCTATGTGAACCCTTTCCTCCTGCTGACCCCTGGACTGCGGCCAGGCCTACACACGCCAGGGAACGGGCACACACCATTCTTGTGAAGTTCACAAACTGCAGATTGATCAGCAGGGGGAAGGGATCATAATGCCGTGGTGGCGGCAGCCTACTTTTTCAAAATCAATTTCCTACTGGAGATGGGTGGGAAATTGAAGTCGGTGCGAGCTAAGGCTGGATACACGGCGCGTAGGGGAGATCAGGCACTCGGTTGAAGTAGGCCCCGAGGAAGATGAGGCTGGAGCCCACGCTGAAGAGCACCAGAGCGGCCCAGAAGCAGATGTTGTCAAGGGCATTCCCCATGCGCACCCAGTCGGACACTTCCTGGGGAAGGGTCGGCACAGTCAGTAAAGAGGCAGCTGCAGGAGCCAGCGGCATGGGAGACAGTGGTGGGCCTCTGCCTCGCTCCACCCGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCG
GACTTCCCAGCTGGCCCCCAGGGGGCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGCCACCCCTTCTTCCCTTCTTTCCCTCTCCCAGTTGAGACACCCCCCCAACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACAGCTTCCCCTTCCCAGGAATTGAGTGGGCCTAGCCCCTCCCCCCTTTTCTCCATTTGAGAGGAGAGTGCTTGGGGCTTGAACCCCTTACCCCACTGCTGCTGACTGGGCAGGGCCCTGGACCCCTTTATTTGCACGTCAGGGGAGCCGGCTCCCCCCTTGAATGTACCAGACCCTGGGGGGGGTCACTGGGCCCTAGATTTTTGGGGGGTCACCAGCCACTCCAGGGGCAGGGACCATTTCTTCATTTTCTGAAAGCACTTTAATGATTCCCCTTCCCCCAAACTCCAGGGAATGGAGGGGGGACCCCGCCAGCCAAAACATTCCCCCCATTCCCGACCCCCCTCTCCTCTTCTAGCCCATGCCCTTCCCCGGTGGAGGGAGGGAGCAGGGAGCCCTCACTCTCCACGCCCCTTGCTTGCATCTGTATATAGTGTGAGCAGCAAGTAACCCTTCTCCCTCCCCCCCCACCCCTCCTCAATGTAGTGGCCTTGGATATCCTGTTTGTTAATAAAGACAATTCAACCAGCTCCCACCATGCAGGCCGCATGTCCTTGCTTTCTGTCAGTACTGTAGACTAGGCAGAGAGAGCCTCCAGGGTGGGGAAGAAAGGGGCAGGGTGGGCTGGGATCTGCAATGAGTGAGCCTCATGGGGTGGGATGGGCAGTGCTGGGCCAAGAAAACCTAGAAGAAATGACTGTGGAAGGGTCAGGGCAGCCTCAGCCTTAAACCTGTGGGCCTGAGGGCCACCAGCACTGAAGGTGTTTGGTTCCCACCCGCTCCAGCAGAGCCAGACCAGGGAAGAAGAGGGTTTCCTGGCTACAGCCTCCCTGTGTGCAAGTCCTGCAAAGGGGTCTCCTGTTTGGCTATGAAATGAATATAGATAGATAGCTCACAAGCTGGCAGCCACCAGAGTCCCGTGGGGCTGAGCCTTAGAAAGGCTGGGAGGTCAGCAAGGCTGAATGAAGGGCAGTCCTTGCTTTCTGGAAGACTGGCACCTGAGAGCCTATGTGAACCCTTTCCTCCTGCTGACCCCTGGACTGCGGCCAGGCCTACACACGCCAGGGAACGGGCACACACCATTCTTGTGAAGTTCACAAACTGCAGATTGATCAGCAGGGGGAAGGGATCATAATGCCGTGGTGGCGGCAGCCTACTTTTTCAAAATCAATTTCCTACTGGAGATGGGTGGGAAATTGAAGTCGGTGCGAGCTAAGGCTGGATACACGGCGCGTAGGGGAGATCAGGCACTCGGTTGAAGTAGGCCCCGAGGAAGATGAGGCTGGAGCCCACGCTGAAGAGCACCAGAGCGGCCCAGAAGCAGATGTTGTCAAGGGCATTCCCCATGCGCACCCAGTCGGACACTTCCTGGGGAAGGGTCGGCACAGTCAGTAAAGAGGCAGCTGCAGGAGCCAGCGGCATGGGAGACAGTGGTGGGCCTCTGCCTCGCTCCACCCGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGGCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCG
Task1_train_23271
A variant found in Chromosome 17 affects CHRNE (cholinergic receptor nicotinic epsilon subunit). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Congenital myasthenic syndrome 4C
GACTTCCCAGCTGGCCCCCAGGGGGCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGCCACCCCTTCTTCCCTTCTTTCCCTCTCCCAGTTGAGACACCCCCCCAACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACAGCTTCCCCTTCCCAGGAATTGAGTGGGCCTAGCCCCTCCCCCCTTTTCTCCATTTGAGAGGAGAGTGCTTGGGGCTTGAACCCCTTACCCCACTGCTGCTGACTGGGCAGGGCCCTGGACCCCTTTATTTGCACGTCAGGGGAGCCGGCTCCCCCCTTGAATGTACCAGACCCTGGGGGGGGTCACTGGGCCCTAGATTTTTGGGGGGTCACCAGCCACTCCAGGGGCAGGGACCATTTCTTCATTTTCTGAAAGCACTTTAATGATTCCCCTTCCCCCAAACTCCAGGGAATGGAGGGGGGACCCCGCCAGCCAAAACATTCCCCCCATTCCCGACCCCCCTCTCCTCTTCTAGCCCATGCCCTTCCCCGGTGGAGGGAGGGAGCAGGGAGCCCTCACTCTCCACGCCCCTTGCTTGCATCTGTATATAGTGTGAGCAGCAAGTAACCCTTCTCCCTCCCCCCCCACCCCTCCTCAATGTAGTGGCCTTGGATATCCTGTTTGTTAATAAAGACAATTCAACCAGCTCCCACCATGCAGGCCGCATGTCCTTGCTTTCTGTCAGTACTGTAGACTAGGCAGAGAGAGCCTCCAGGGTGGGGAAGAAAGGGGCAGGGTGGGCTGGGATCTGCAATGAGTGAGCCTCATGGGGTGGGATGGGCAGTGCTGGGCCAAGAAAACCTAGAAGAAATGACTGTGGAAGGGTCAGGGCAGCCTCAGCCTTAAACCTGTGGGCCTGAGGGCCACCAGCACTGAAGGTGTTTGGTTCCCACCCGCTCCAGCAGAGCCAGACCAGGGAAGAAGAGGGTTTCCTGGCTACAGCCTCCCTGTGTGCAAGTCCTGCAAAGGGGTCTCCTGTTTGGCTATGAAATGAATATAGATAGATAGCTCACAAGCTGGCAGCCACCAGAGTCCCGTGGGGCTGAGCCTTAGAAAGGCTGGGAGGTCAGCAAGGCTGAATGAAGGGCAGTCCTTGCTTTCTGGAAGACTGGCACCTGAGAGCCTATGTGAACCCTTTCCTCCTGCTGACCCCTGGACTGCGGCCAGGCCTACACACGCCAGGGAACGGGCACACACCATTCTTGTGAAGTTCACAAACTGCAGATTGATCAGCAGGGGGAAGGGATCATAATGCCGTGGTGGCGGCAGCCTACTTTTTCAAAATCAATTTCCTACTGGAGATGGGTGGGAAATTGAAGTCGGTGCGAGCTAAGGCTGGATACACGGCGCGTAGGGGAGATCAGGCACTCGGTTGAAGTAGGCCCCGAGGAAGATGAGGCTGGAGCCCACGCTGAAGAGCACCAGAGCGGCCCAGAAGCAGATGTTGTCAAGGGCATTCCCCATGCGCACCCAGTCGGACACTTCCTGGGGAAGGGTCGGCACAGTCAGTAAAGAGGCAGCTGCAGGAGCCAGCGGCATGGGAGACAGTGGTGGGCCTCTGCCTCGCTCCACCCGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCG
GACTTCCCAGCTGGCCCCCAGGGGGCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGCCACCCCTTCTTCCCTTCTTTCCCTCTCCCAGTTGAGACACCCCCCCAACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACAGCTTCCCCTTCCCAGGAATTGAGTGGGCCTAGCCCCTCCCCCCTTTTCTCCATTTGAGAGGAGAGTGCTTGGGGCTTGAACCCCTTACCCCACTGCTGCTGACTGGGCAGGGCCCTGGACCCCTTTATTTGCACGTCAGGGGAGCCGGCTCCCCCCTTGAATGTACCAGACCCTGGGGGGGGTCACTGGGCCCTAGATTTTTGGGGGGTCACCAGCCACTCCAGGGGCAGGGACCATTTCTTCATTTTCTGAAAGCACTTTAATGATTCCCCTTCCCCCAAACTCCAGGGAATGGAGGGGGGACCCCGCCAGCCAAAACATTCCCCCCATTCCCGACCCCCCTCTCCTCTTCTAGCCCATGCCCTTCCCCGGTGGAGGGAGGGAGCAGGGAGCCCTCACTCTCCACGCCCCTTGCTTGCATCTGTATATAGTGTGAGCAGCAAGTAACCCTTCTCCCTCCCCCCCCACCCCTCCTCAATGTAGTGGCCTTGGATATCCTGTTTGTTAATAAAGACAATTCAACCAGCTCCCACCATGCAGGCCGCATGTCCTTGCTTTCTGTCAGTACTGTAGACTAGGCAGAGAGAGCCTCCAGGGTGGGGAAGAAAGGGGCAGGGTGGGCTGGGATCTGCAATGAGTGAGCCTCATGGGGTGGGATGGGCAGTGCTGGGCCAAGAAAACCTAGAAGAAATGACTGTGGAAGGGTCAGGGCAGCCTCAGCCTTAAACCTGTGGGCCTGAGGGCCACCAGCACTGAAGGTGTTTGGTTCCCACCCGCTCCAGCAGAGCCAGACCAGGGAAGAAGAGGGTTTCCTGGCTACAGCCTCCCTGTGTGCAAGTCCTGCAAAGGGGTCTCCTGTTTGGCTATGAAATGAATATAGATAGATAGCTCACAAGCTGGCAGCCACCAGAGTCCCGTGGGGCTGAGCCTTAGAAAGGCTGGGAGGTCAGCAAGGCTGAATGAAGGGCAGTCCTTGCTTTCTGGAAGACTGGCACCTGAGAGCCTATGTGAACCCTTTCCTCCTGCTGACCCCTGGACTGCGGCCAGGCCTACACACGCCAGGGAACGGGCACACACCATTCTTGTGAAGTTCACAAACTGCAGATTGATCAGCAGGGGGAAGGGATCATAATGCCGTGGTGGCGGCAGCCTACTTTTTCAAAATCAATTTCCTACTGGAGATGGGTGGGAAATTGAAGTCGGTGCGAGCTAAGGCTGGATACACGGCGCGTAGGGGAGATCAGGCACTCGGTTGAAGTAGGCCCCGAGGAAGATGAGGCTGGAGCCCACGCTGAAGAGCACCAGAGCGGCCCAGAAGCAGATGTTGTCAAGGGCATTCCCCATGCGCACCCAGTCGGACACTTCCTGGGGAAGGGTCGGCACAGTCAGTAAAGAGGCAGCTGCAGGAGCCAGCGGCATGGGAGACAGTGGTGGGCCTCTGCCTCGCTCCACCCGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGGCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCG
Task1_train_23272
Chromosome 17 houses a mutation in gene CHRNE (cholinergic receptor nicotinic epsilon subunit). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Congenital myasthenic syndrome 4B
GACTTCCCAGCTGGCCCCCAGGGGGCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGCCACCCCTTCTTCCCTTCTTTCCCTCTCCCAGTTGAGACACCCCCCCAACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACAGCTTCCCCTTCCCAGGAATTGAGTGGGCCTAGCCCCTCCCCCCTTTTCTCCATTTGAGAGGAGAGTGCTTGGGGCTTGAACCCCTTACCCCACTGCTGCTGACTGGGCAGGGCCCTGGACCCCTTTATTTGCACGTCAGGGGAGCCGGCTCCCCCCTTGAATGTACCAGACCCTGGGGGGGGTCACTGGGCCCTAGATTTTTGGGGGGTCACCAGCCACTCCAGGGGCAGGGACCATTTCTTCATTTTCTGAAAGCACTTTAATGATTCCCCTTCCCCCAAACTCCAGGGAATGGAGGGGGGACCCCGCCAGCCAAAACATTCCCCCCATTCCCGACCCCCCTCTCCTCTTCTAGCCCATGCCCTTCCCCGGTGGAGGGAGGGAGCAGGGAGCCCTCACTCTCCACGCCCCTTGCTTGCATCTGTATATAGTGTGAGCAGCAAGTAACCCTTCTCCCTCCCCCCCCACCCCTCCTCAATGTAGTGGCCTTGGATATCCTGTTTGTTAATAAAGACAATTCAACCAGCTCCCACCATGCAGGCCGCATGTCCTTGCTTTCTGTCAGTACTGTAGACTAGGCAGAGAGAGCCTCCAGGGTGGGGAAGAAAGGGGCAGGGTGGGCTGGGATCTGCAATGAGTGAGCCTCATGGGGTGGGATGGGCAGTGCTGGGCCAAGAAAACCTAGAAGAAATGACTGTGGAAGGGTCAGGGCAGCCTCAGCCTTAAACCTGTGGGCCTGAGGGCCACCAGCACTGAAGGTGTTTGGTTCCCACCCGCTCCAGCAGAGCCAGACCAGGGAAGAAGAGGGTTTCCTGGCTACAGCCTCCCTGTGTGCAAGTCCTGCAAAGGGGTCTCCTGTTTGGCTATGAAATGAATATAGATAGATAGCTCACAAGCTGGCAGCCACCAGAGTCCCGTGGGGCTGAGCCTTAGAAAGGCTGGGAGGTCAGCAAGGCTGAATGAAGGGCAGTCCTTGCTTTCTGGAAGACTGGCACCTGAGAGCCTATGTGAACCCTTTCCTCCTGCTGACCCCTGGACTGCGGCCAGGCCTACACACGCCAGGGAACGGGCACACACCATTCTTGTGAAGTTCACAAACTGCAGATTGATCAGCAGGGGGAAGGGATCATAATGCCGTGGTGGCGGCAGCCTACTTTTTCAAAATCAATTTCCTACTGGAGATGGGTGGGAAATTGAAGTCGGTGCGAGCTAAGGCTGGATACACGGCGCGTAGGGGAGATCAGGCACTCGGTTGAAGTAGGCCCCGAGGAAGATGAGGCTGGAGCCCACGCTGAAGAGCACCAGAGCGGCCCAGAAGCAGATGTTGTCAAGGGCATTCCCCATGCGCACCCAGTCGGACACTTCCTGGGGAAGGGTCGGCACAGTCAGTAAAGAGGCAGCTGCAGGAGCCAGCGGCATGGGAGACAGTGGTGGGCCTCTGCCTCGCTCCACCCGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCG
GACTTCCCAGCTGGCCCCCAGGGGGCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGCCACCCCTTCTTCCCTTCTTTCCCTCTCCCAGTTGAGACACCCCCCCAACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACAGCTTCCCCTTCCCAGGAATTGAGTGGGCCTAGCCCCTCCCCCCTTTTCTCCATTTGAGAGGAGAGTGCTTGGGGCTTGAACCCCTTACCCCACTGCTGCTGACTGGGCAGGGCCCTGGACCCCTTTATTTGCACGTCAGGGGAGCCGGCTCCCCCCTTGAATGTACCAGACCCTGGGGGGGGTCACTGGGCCCTAGATTTTTGGGGGGTCACCAGCCACTCCAGGGGCAGGGACCATTTCTTCATTTTCTGAAAGCACTTTAATGATTCCCCTTCCCCCAAACTCCAGGGAATGGAGGGGGGACCCCGCCAGCCAAAACATTCCCCCCATTCCCGACCCCCCTCTCCTCTTCTAGCCCATGCCCTTCCCCGGTGGAGGGAGGGAGCAGGGAGCCCTCACTCTCCACGCCCCTTGCTTGCATCTGTATATAGTGTGAGCAGCAAGTAACCCTTCTCCCTCCCCCCCCACCCCTCCTCAATGTAGTGGCCTTGGATATCCTGTTTGTTAATAAAGACAATTCAACCAGCTCCCACCATGCAGGCCGCATGTCCTTGCTTTCTGTCAGTACTGTAGACTAGGCAGAGAGAGCCTCCAGGGTGGGGAAGAAAGGGGCAGGGTGGGCTGGGATCTGCAATGAGTGAGCCTCATGGGGTGGGATGGGCAGTGCTGGGCCAAGAAAACCTAGAAGAAATGACTGTGGAAGGGTCAGGGCAGCCTCAGCCTTAAACCTGTGGGCCTGAGGGCCACCAGCACTGAAGGTGTTTGGTTCCCACCCGCTCCAGCAGAGCCAGACCAGGGAAGAAGAGGGTTTCCTGGCTACAGCCTCCCTGTGTGCAAGTCCTGCAAAGGGGTCTCCTGTTTGGCTATGAAATGAATATAGATAGATAGCTCACAAGCTGGCAGCCACCAGAGTCCCGTGGGGCTGAGCCTTAGAAAGGCTGGGAGGTCAGCAAGGCTGAATGAAGGGCAGTCCTTGCTTTCTGGAAGACTGGCACCTGAGAGCCTATGTGAACCCTTTCCTCCTGCTGACCCCTGGACTGCGGCCAGGCCTACACACGCCAGGGAACGGGCACACACCATTCTTGTGAAGTTCACAAACTGCAGATTGATCAGCAGGGGGAAGGGATCATAATGCCGTGGTGGCGGCAGCCTACTTTTTCAAAATCAATTTCCTACTGGAGATGGGTGGGAAATTGAAGTCGGTGCGAGCTAAGGCTGGATACACGGCGCGTAGGGGAGATCAGGCACTCGGTTGAAGTAGGCCCCGAGGAAGATGAGGCTGGAGCCCACGCTGAAGAGCACCAGAGCGGCCCAGAAGCAGATGTTGTCAAGGGCATTCCCCATGCGCACCCAGTCGGACACTTCCTGGGGAAGGGTCGGCACAGTCAGTAAAGAGGCAGCTGCAGGAGCCAGCGGCATGGGAGACAGTGGTGGGCCTCTGCCTCGCTCCACCCGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGGCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCG
Task1_train_23273
The gene C17orf107, CHRNE (chromosome 17 open reading frame 107| cholinergic receptor nicotinic epsilon subunit), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Congenital myasthenic syndrome
ATACACGGCGCGTAGGGGAGATCAGGCACTCGGTTGAAGTAGGCCCCGAGGAAGATGAGGCTGGAGCCCACGCTGAAGAGCACCAGAGCGGCCCAGAAGCAGATGTTGTCAAGGGCATTCCCCATGCGCACCCAGTCGGACACTTCCTGGGGAAGGGTCGGCACAGTCAGTAAAGAGGCAGCTGCAGGAGCCAGCGGCATGGGAGACAGTGGTGGGCCTCTGCCTCGCTCCACCCGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGT
ATACACGGCGCGTAGGGGAGATCAGGCACTCGGTTGAAGTAGGCCCCGAGGAAGATGAGGCTGGAGCCCACGCTGAAGAGCACCAGAGCGGCCCAGAAGCAGATGTTGTCAAGGGCATTCCCCATGCGCACCCAGTCGGACACTTCCTGGGGAAGGGTCGGCACAGTCAGTAAAGAGGCAGCTGCAGGAGCCAGCGGCATGGGAGACAGTGGTGGGCCTCTGCCTCGCTCCACCCGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCCGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGT
Task1_train_23274
The gene C17orf107, CHRNE (chromosome 17 open reading frame 107| cholinergic receptor nicotinic epsilon subunit), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Congenital myasthenic syndrome 4A
GGAGCCCACGCTGAAGAGCACCAGAGCGGCCCAGAAGCAGATGTTGTCAAGGGCATTCCCCATGCGCACCCAGTCGGACACTTCCTGGGGAAGGGTCGGCACAGTCAGTAAAGAGGCAGCTGCAGGAGCCAGCGGCATGGGAGACAGTGGTGGGCCTCTGCCTCGCTCCACCCGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGC
GGAGCCCACGCTGAAGAGCACCAGAGCGGCCCAGAAGCAGATGTTGTCAAGGGCATTCCCCATGCGCACCCAGTCGGACACTTCCTGGGGAAGGGTCGGCACAGTCAGTAAAGAGGCAGCTGCAGGAGCCAGCGGCATGGGAGACAGTGGTGGGCCTCTGCCTCGCTCCACCCGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGGCGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGC
Task1_train_23275
Here is a mutation in C17orf107, CHRNE (chromosome 17 open reading frame 107| cholinergic receptor nicotinic epsilon subunit) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Congenital myasthenic syndrome 4A
ACCAGAGCGGCCCAGAAGCAGATGTTGTCAAGGGCATTCCCCATGCGCACCCAGTCGGACACTTCCTGGGGAAGGGTCGGCACAGTCAGTAAAGAGGCAGCTGCAGGAGCCAGCGGCATGGGAGACAGTGGTGGGCCTCTGCCTCGCTCCACCCGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTG
ACCAGAGCGGCCCAGAAGCAGATGTTGTCAAGGGCATTCCCCATGCGCACCCAGTCGGACACTTCCTGGGGAAGGGTCGGCACAGTCAGTAAAGAGGCAGCTGCAGGAGCCAGCGGCATGGGAGACAGTGGTGGGCCTCTGCCTCGCTCCACCCGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGAAGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTG
Task1_train_23276
Assess the clinical impact of this variant on gene C17orf107, CHRNE (chromosome 17 open reading frame 107| cholinergic receptor nicotinic epsilon subunit), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Congenital myasthenic syndrome 4A
CGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGG
CGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCAAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGG
Task1_train_23277
Chromosome 17 houses a mutation in gene C17orf107, CHRNE (chromosome 17 open reading frame 107| cholinergic receptor nicotinic epsilon subunit). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Congenital myasthenic syndrome 4A
CGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGG
CGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCAAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGG
Task1_train_23278
This alteration in C17orf107, CHRNE (chromosome 17 open reading frame 107| cholinergic receptor nicotinic epsilon subunit) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Congenital myasthenic syndrome 4B
CGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGG
CGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCAAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGG
Task1_train_23279
This gene mutation involves C17orf107, CHRNE (chromosome 17 open reading frame 107| cholinergic receptor nicotinic epsilon subunit) on Chromosome 17. Is it associated with any clinical condition, or is it benign?
Pathogenic; Congenital myasthenic syndrome 4C
CGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGG
CGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCAAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGG
Task1_train_23280
This variant affects gene CHRNE, C17orf107 (cholinergic receptor nicotinic epsilon subunit| chromosome 17 open reading frame 107) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
Pathogenic; Congenital myasthenic syndrome 4A
CTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGGTTCTCAGGGTTATTCTGAGCTCTGGCAGGCTTGGAGGGGGCAT
CTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAACGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGGTTCTCAGGGTTATTCTGAGCTCTGGCAGGCTTGGAGGGGGCAT
Task1_train_23281
Given this variant in gene CHRNE, C17orf107 (cholinergic receptor nicotinic epsilon subunit| chromosome 17 open reading frame 107) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Congenital myasthenic syndrome
CTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGGTTCTCAGGGTTATTCTGAGCTCTGGCAGGCTTGGAGGGGGCAT
CTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAACGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGGTTCTCAGGGTTATTCTGAGCTCTGGCAGGCTTGGAGGGGGCAT
Task1_train_23282
A mutation on Chromosome 17 affecting C17orf107, CHRNE (chromosome 17 open reading frame 107| cholinergic receptor nicotinic epsilon subunit) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Congenital myasthenic syndrome 4A
TCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGGTTCTCAGGGTTATTCTGAGCTCTGGCAGGCTTGGAGGGGGCATGCCAGGGTG
TCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCAGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGGTTCTCAGGGTTATTCTGAGCTCTGGCAGGCTTGGAGGGGGCATGCCAGGGTG
Task1_train_23283
A genomic change on Chromosome 17 affects C17orf107, CHRNE (chromosome 17 open reading frame 107| cholinergic receptor nicotinic epsilon subunit). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Congenital myasthenic syndrome 4A
TTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGGTTCTCAGGGTTATTCTGAGCTCTGGCAGGCTTGGAGGGGGCATGCCAGGGTGCCTGTGTGAGGGGGAGGAGGGTGTTAGTTCCGGGCTGTTAGGGGACTGTCACCTAATCCTCTGCTCACCCCTGCTGCAGCTGGGGACATTTTGGCTGCTTCCAGAGGCAGCTGCCCCATCCTGTGTTTCCTGCCCCTGCCCCGCCCCAGCCCAGCGTCCTTTGCCTGGTATTTGGCCAACTCCCCAGCCACAGATGTGGGCGTCTCCTGAGAGGCACCTGCAACCACAATTCTAGTAGCAGGGGGTGGGAGACACTGCTTTCAGCAGGCACTGTTGTCCTTTGAGTAAGCTGCCCTGTGTAGGTGACCCTGACTGATGAACACATCTGGGGATGTGACACACCCCTTGCCTCCCATTCTCACCCATGTGGAACACACACTATCACCACCCAAGCTCACAATGCCTTTCTTGCCGACAGAGTGGCAAAAAACAGTCTCCATAAAGACCTGATAAAGAGACAGGTGGTCACAGGGGATTAGCCCTGCGGTACAGAGATTCCATCTAGCAAAGGAGATCATGTAAAGGACCCACCTCCTTCCACAACCTGATCGCCAGGTTTGCCCATGCCCAGCCCCTCTGGGTGGGAGACTTGTTTCTCCTTGTCTATCCCTGCTGCCACCTTGTGGTCACAGATGATAGTACCGTCTTCCCATCCTACTCTCCTAAACACACACGTGCACACATACACACACACCTGATGACACCTTAATAGATCCTTTTGATGTTCCTTTTTAAAAAAAATTTTTTTGAGACCAAGTCTCGCTCTGGCGCCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCT
TTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACAGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGGTTCTCAGGGTTATTCTGAGCTCTGGCAGGCTTGGAGGGGGCATGCCAGGGTGCCTGTGTGAGGGGGAGGAGGGTGTTAGTTCCGGGCTGTTAGGGGACTGTCACCTAATCCTCTGCTCACCCCTGCTGCAGCTGGGGACATTTTGGCTGCTTCCAGAGGCAGCTGCCCCATCCTGTGTTTCCTGCCCCTGCCCCGCCCCAGCCCAGCGTCCTTTGCCTGGTATTTGGCCAACTCCCCAGCCACAGATGTGGGCGTCTCCTGAGAGGCACCTGCAACCACAATTCTAGTAGCAGGGGGTGGGAGACACTGCTTTCAGCAGGCACTGTTGTCCTTTGAGTAAGCTGCCCTGTGTAGGTGACCCTGACTGATGAACACATCTGGGGATGTGACACACCCCTTGCCTCCCATTCTCACCCATGTGGAACACACACTATCACCACCCAAGCTCACAATGCCTTTCTTGCCGACAGAGTGGCAAAAAACAGTCTCCATAAAGACCTGATAAAGAGACAGGTGGTCACAGGGGATTAGCCCTGCGGTACAGAGATTCCATCTAGCAAAGGAGATCATGTAAAGGACCCACCTCCTTCCACAACCTGATCGCCAGGTTTGCCCATGCCCAGCCCCTCTGGGTGGGAGACTTGTTTCTCCTTGTCTATCCCTGCTGCCACCTTGTGGTCACAGATGATAGTACCGTCTTCCCATCCTACTCTCCTAAACACACACGTGCACACATACACACACACCTGATGACACCTTAATAGATCCTTTTGATGTTCCTTTTTAAAAAAAATTTTTTTGAGACCAAGTCTCGCTCTGGCGCCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCT
Task1_train_23284
Given a variant located on Chromosome 17 and affecting C17orf107, CHRNE (chromosome 17 open reading frame 107| cholinergic receptor nicotinic epsilon subunit), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Congenital myasthenic syndrome 4C
TTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGGTTCTCAGGGTTATTCTGAGCTCTGGCAGGCTTGGAGGGGGCATGCCAGGGTGCCTGTGTGAGGGGGAGGAGGGTGTTAGTTCCGGGCTGTTAGGGGACTGTCACCTAATCCTCTGCTCACCCCTGCTGCAGCTGGGGACATTTTGGCTGCTTCCAGAGGCAGCTGCCCCATCCTGTGTTTCCTGCCCCTGCCCCGCCCCAGCCCAGCGTCCTTTGCCTGGTATTTGGCCAACTCCCCAGCCACAGATGTGGGCGTCTCCTGAGAGGCACCTGCAACCACAATTCTAGTAGCAGGGGGTGGGAGACACTGCTTTCAGCAGGCACTGTTGTCCTTTGAGTAAGCTGCCCTGTGTAGGTGACCCTGACTGATGAACACATCTGGGGATGTGACACACCCCTTGCCTCCCATTCTCACCCATGTGGAACACACACTATCACCACCCAAGCTCACAATGCCTTTCTTGCCGACAGAGTGGCAAAAAACAGTCTCCATAAAGACCTGATAAAGAGACAGGTGGTCACAGGGGATTAGCCCTGCGGTACAGAGATTCCATCTAGCAAAGGAGATCATGTAAAGGACCCACCTCCTTCCACAACCTGATCGCCAGGTTTGCCCATGCCCAGCCCCTCTGGGTGGGAGACTTGTTTCTCCTTGTCTATCCCTGCTGCCACCTTGTGGTCACAGATGATAGTACCGTCTTCCCATCCTACTCTCCTAAACACACACGTGCACACATACACACACACCTGATGACACCTTAATAGATCCTTTTGATGTTCCTTTTTAAAAAAAATTTTTTTGAGACCAAGTCTCGCTCTGGCGCCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCT
TTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACAGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGGTTCTCAGGGTTATTCTGAGCTCTGGCAGGCTTGGAGGGGGCATGCCAGGGTGCCTGTGTGAGGGGGAGGAGGGTGTTAGTTCCGGGCTGTTAGGGGACTGTCACCTAATCCTCTGCTCACCCCTGCTGCAGCTGGGGACATTTTGGCTGCTTCCAGAGGCAGCTGCCCCATCCTGTGTTTCCTGCCCCTGCCCCGCCCCAGCCCAGCGTCCTTTGCCTGGTATTTGGCCAACTCCCCAGCCACAGATGTGGGCGTCTCCTGAGAGGCACCTGCAACCACAATTCTAGTAGCAGGGGGTGGGAGACACTGCTTTCAGCAGGCACTGTTGTCCTTTGAGTAAGCTGCCCTGTGTAGGTGACCCTGACTGATGAACACATCTGGGGATGTGACACACCCCTTGCCTCCCATTCTCACCCATGTGGAACACACACTATCACCACCCAAGCTCACAATGCCTTTCTTGCCGACAGAGTGGCAAAAAACAGTCTCCATAAAGACCTGATAAAGAGACAGGTGGTCACAGGGGATTAGCCCTGCGGTACAGAGATTCCATCTAGCAAAGGAGATCATGTAAAGGACCCACCTCCTTCCACAACCTGATCGCCAGGTTTGCCCATGCCCAGCCCCTCTGGGTGGGAGACTTGTTTCTCCTTGTCTATCCCTGCTGCCACCTTGTGGTCACAGATGATAGTACCGTCTTCCCATCCTACTCTCCTAAACACACACGTGCACACATACACACACACCTGATGACACCTTAATAGATCCTTTTGATGTTCCTTTTTAAAAAAAATTTTTTTGAGACCAAGTCTCGCTCTGGCGCCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCT
Task1_train_23285
Gene C17orf107, CHRNE (chromosome 17 open reading frame 107| cholinergic receptor nicotinic epsilon subunit), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Congenital myasthenic syndrome 4B
TTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGGTTCTCAGGGTTATTCTGAGCTCTGGCAGGCTTGGAGGGGGCATGCCAGGGTGCCTGTGTGAGGGGGAGGAGGGTGTTAGTTCCGGGCTGTTAGGGGACTGTCACCTAATCCTCTGCTCACCCCTGCTGCAGCTGGGGACATTTTGGCTGCTTCCAGAGGCAGCTGCCCCATCCTGTGTTTCCTGCCCCTGCCCCGCCCCAGCCCAGCGTCCTTTGCCTGGTATTTGGCCAACTCCCCAGCCACAGATGTGGGCGTCTCCTGAGAGGCACCTGCAACCACAATTCTAGTAGCAGGGGGTGGGAGACACTGCTTTCAGCAGGCACTGTTGTCCTTTGAGTAAGCTGCCCTGTGTAGGTGACCCTGACTGATGAACACATCTGGGGATGTGACACACCCCTTGCCTCCCATTCTCACCCATGTGGAACACACACTATCACCACCCAAGCTCACAATGCCTTTCTTGCCGACAGAGTGGCAAAAAACAGTCTCCATAAAGACCTGATAAAGAGACAGGTGGTCACAGGGGATTAGCCCTGCGGTACAGAGATTCCATCTAGCAAAGGAGATCATGTAAAGGACCCACCTCCTTCCACAACCTGATCGCCAGGTTTGCCCATGCCCAGCCCCTCTGGGTGGGAGACTTGTTTCTCCTTGTCTATCCCTGCTGCCACCTTGTGGTCACAGATGATAGTACCGTCTTCCCATCCTACTCTCCTAAACACACACGTGCACACATACACACACACCTGATGACACCTTAATAGATCCTTTTGATGTTCCTTTTTAAAAAAAATTTTTTTGAGACCAAGTCTCGCTCTGGCGCCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCT
TTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACAGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGGTTCTCAGGGTTATTCTGAGCTCTGGCAGGCTTGGAGGGGGCATGCCAGGGTGCCTGTGTGAGGGGGAGGAGGGTGTTAGTTCCGGGCTGTTAGGGGACTGTCACCTAATCCTCTGCTCACCCCTGCTGCAGCTGGGGACATTTTGGCTGCTTCCAGAGGCAGCTGCCCCATCCTGTGTTTCCTGCCCCTGCCCCGCCCCAGCCCAGCGTCCTTTGCCTGGTATTTGGCCAACTCCCCAGCCACAGATGTGGGCGTCTCCTGAGAGGCACCTGCAACCACAATTCTAGTAGCAGGGGGTGGGAGACACTGCTTTCAGCAGGCACTGTTGTCCTTTGAGTAAGCTGCCCTGTGTAGGTGACCCTGACTGATGAACACATCTGGGGATGTGACACACCCCTTGCCTCCCATTCTCACCCATGTGGAACACACACTATCACCACCCAAGCTCACAATGCCTTTCTTGCCGACAGAGTGGCAAAAAACAGTCTCCATAAAGACCTGATAAAGAGACAGGTGGTCACAGGGGATTAGCCCTGCGGTACAGAGATTCCATCTAGCAAAGGAGATCATGTAAAGGACCCACCTCCTTCCACAACCTGATCGCCAGGTTTGCCCATGCCCAGCCCCTCTGGGTGGGAGACTTGTTTCTCCTTGTCTATCCCTGCTGCCACCTTGTGGTCACAGATGATAGTACCGTCTTCCCATCCTACTCTCCTAAACACACACGTGCACACATACACACACACCTGATGACACCTTAATAGATCCTTTTGATGTTCCTTTTTAAAAAAAATTTTTTTGAGACCAAGTCTCGCTCTGGCGCCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCT
Task1_train_23286
The gene C17orf107, CHRNE (chromosome 17 open reading frame 107| cholinergic receptor nicotinic epsilon subunit) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Congenital myasthenic syndrome 4A
TTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGGTTCTCAGGGTTATTCTGAGCTCTGGCAGGCTTGGAGGGGGCATGCCAGGGTGCCTGTGTGAGGGGGAGGAGGGTGTTAGTTCCGGGCTGTTAGGGGACTGTCACCTAATCCTCTGCTCACCCCTGCTGCAGCTGGGGACATTTTGGCTGCTTCCAGAGGCAGCTGCCCCATCCTGTGTTTCCTGCCCCTGCCCCGCCCCAGCCCAGCGTCCTTTGCCTGGTATTTGGCCAACTCCCCAGCCACAGATGTGGGCGTCTCCTGAGAGGCACCTGCAACCACAATTCTAGTAGCAGGGGGTGGGAGACACTGCTTTCAGCAGGCACTGTTGTCCTTTGAGTAAGCTGCCCTGTGTAGGTGACCCTGACTGATGAACACATCTGGGGATGTGACACACCCCTTGCCTCCCATTCTCACCCATGTGGAACACACACTATCACCACCCAAGCTCACAATGCCTTTCTTGCCGACAGAGTGGCAAAAAACAGTCTCCATAAAGACCTGATAAAGAGACAGGTGGTCACAGGGGATTAGCCCTGCGGTACAGAGATTCCATCTAGCAAAGGAGATCATGTAAAGGACCCACCTCCTTCCACAACCTGATCGCCAGGTTTGCCCATGCCCAGCCCCTCTGGGTGGGAGACTTGTTTCTCCTTGTCTATCCCTGCTGCCACCTTGTGGTCACAGATGATAGTACCGTCTTCCCATCCTACTCTCCTAAACACACACGTGCACACATACACACACACCTGATGACACCTTAATAGATCCTTTTGATGTTCCTTTTTAAAAAAAATTTTTTTGAGACCAAGTCTCGCTCTGGCGCCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCT
TTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACAGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGGTTCTCAGGGTTATTCTGAGCTCTGGCAGGCTTGGAGGGGGCATGCCAGGGTGCCTGTGTGAGGGGGAGGAGGGTGTTAGTTCCGGGCTGTTAGGGGACTGTCACCTAATCCTCTGCTCACCCCTGCTGCAGCTGGGGACATTTTGGCTGCTTCCAGAGGCAGCTGCCCCATCCTGTGTTTCCTGCCCCTGCCCCGCCCCAGCCCAGCGTCCTTTGCCTGGTATTTGGCCAACTCCCCAGCCACAGATGTGGGCGTCTCCTGAGAGGCACCTGCAACCACAATTCTAGTAGCAGGGGGTGGGAGACACTGCTTTCAGCAGGCACTGTTGTCCTTTGAGTAAGCTGCCCTGTGTAGGTGACCCTGACTGATGAACACATCTGGGGATGTGACACACCCCTTGCCTCCCATTCTCACCCATGTGGAACACACACTATCACCACCCAAGCTCACAATGCCTTTCTTGCCGACAGAGTGGCAAAAAACAGTCTCCATAAAGACCTGATAAAGAGACAGGTGGTCACAGGGGATTAGCCCTGCGGTACAGAGATTCCATCTAGCAAAGGAGATCATGTAAAGGACCCACCTCCTTCCACAACCTGATCGCCAGGTTTGCCCATGCCCAGCCCCTCTGGGTGGGAGACTTGTTTCTCCTTGTCTATCCCTGCTGCCACCTTGTGGTCACAGATGATAGTACCGTCTTCCCATCCTACTCTCCTAAACACACACGTGCACACATACACACACACCTGATGACACCTTAATAGATCCTTTTGATGTTCCTTTTTAAAAAAAATTTTTTTGAGACCAAGTCTCGCTCTGGCGCCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCT
Task1_train_23287
A variant affecting Chromosome 17, within the gene C17orf107, CHRNE (chromosome 17 open reading frame 107| cholinergic receptor nicotinic epsilon subunit), has been observed. Determine if it's benign or associated with disease.
Pathogenic; CHRNE-related disorder
TTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGGTTCTCAGGGTTATTCTGAGCTCTGGCAGGCTTGGAGGGGGCATGCCAGGGTGCCTGTGTGAGGGGGAGGAGGGTGTTAGTTCCGGGCTGTTAGGGGACTGTCACCTAATCCTCTGCTCACCCCTGCTGCAGCTGGGGACATTTTGGCTGCTTCCAGAGGCAGCTGCCCCATCCTGTGTTTCCTGCCCCTGCCCCGCCCCAGCCCAGCGTCCTTTGCCTGGTATTTGGCCAACTCCCCAGCCACAGATGTGGGCGTCTCCTGAGAGGCACCTGCAACCACAATTCTAGTAGCAGGGGGTGGGAGACACTGCTTTCAGCAGGCACTGTTGTCCTTTGAGTAAGCTGCCCTGTGTAGGTGACCCTGACTGATGAACACATCTGGGGATGTGACACACCCCTTGCCTCCCATTCTCACCCATGTGGAACACACACTATCACCACCCAAGCTCACAATGCCTTTCTTGCCGACAGAGTGGCAAAAAACAGTCTCCATAAAGACCTGATAAAGAGACAGGTGGTCACAGGGGATTAGCCCTGCGGTACAGAGATTCCATCTAGCAAAGGAGATCATGTAAAGGACCCACCTCCTTCCACAACCTGATCGCCAGGTTTGCCCATGCCCAGCCCCTCTGGGTGGGAGACTTGTTTCTCCTTGTCTATCCCTGCTGCCACCTTGTGGTCACAGATGATAGTACCGTCTTCCCATCCTACTCTCCTAAACACACACGTGCACACATACACACACACCTGATGACACCTTAATAGATCCTTTTGATGTTCCTTTTTAAAAAAAATTTTTTTGAGACCAAGTCTCGCTCTGGCGCCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCTCTGGAGTAGCTGGGACTACAGGCGCATGCCACCATGCCCGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCAC
TTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCAGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGGTTCTCAGGGTTATTCTGAGCTCTGGCAGGCTTGGAGGGGGCATGCCAGGGTGCCTGTGTGAGGGGGAGGAGGGTGTTAGTTCCGGGCTGTTAGGGGACTGTCACCTAATCCTCTGCTCACCCCTGCTGCAGCTGGGGACATTTTGGCTGCTTCCAGAGGCAGCTGCCCCATCCTGTGTTTCCTGCCCCTGCCCCGCCCCAGCCCAGCGTCCTTTGCCTGGTATTTGGCCAACTCCCCAGCCACAGATGTGGGCGTCTCCTGAGAGGCACCTGCAACCACAATTCTAGTAGCAGGGGGTGGGAGACACTGCTTTCAGCAGGCACTGTTGTCCTTTGAGTAAGCTGCCCTGTGTAGGTGACCCTGACTGATGAACACATCTGGGGATGTGACACACCCCTTGCCTCCCATTCTCACCCATGTGGAACACACACTATCACCACCCAAGCTCACAATGCCTTTCTTGCCGACAGAGTGGCAAAAAACAGTCTCCATAAAGACCTGATAAAGAGACAGGTGGTCACAGGGGATTAGCCCTGCGGTACAGAGATTCCATCTAGCAAAGGAGATCATGTAAAGGACCCACCTCCTTCCACAACCTGATCGCCAGGTTTGCCCATGCCCAGCCCCTCTGGGTGGGAGACTTGTTTCTCCTTGTCTATCCCTGCTGCCACCTTGTGGTCACAGATGATAGTACCGTCTTCCCATCCTACTCTCCTAAACACACACGTGCACACATACACACACACCTGATGACACCTTAATAGATCCTTTTGATGTTCCTTTTTAAAAAAAATTTTTTTGAGACCAAGTCTCGCTCTGGCGCCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCTCTGGAGTAGCTGGGACTACAGGCGCATGCCACCATGCCCGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCAC
Task1_train_23288
Mutation context: Chromosome 17, Gene C17orf107, CHRNE (chromosome 17 open reading frame 107| cholinergic receptor nicotinic epsilon subunit). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Congenital myasthenic syndrome 4A
TTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGGTTCTCAGGGTTATTCTGAGCTCTGGCAGGCTTGGAGGGGGCATGCCAGGGTGCCTGTGTGAGGGGGAGGAGGGTGTTAGTTCCGGGCTGTTAGGGGACTGTCACCTAATCCTCTGCTCACCCCTGCTGCAGCTGGGGACATTTTGGCTGCTTCCAGAGGCAGCTGCCCCATCCTGTGTTTCCTGCCCCTGCCCCGCCCCAGCCCAGCGTCCTTTGCCTGGTATTTGGCCAACTCCCCAGCCACAGATGTGGGCGTCTCCTGAGAGGCACCTGCAACCACAATTCTAGTAGCAGGGGGTGGGAGACACTGCTTTCAGCAGGCACTGTTGTCCTTTGAGTAAGCTGCCCTGTGTAGGTGACCCTGACTGATGAACACATCTGGGGATGTGACACACCCCTTGCCTCCCATTCTCACCCATGTGGAACACACACTATCACCACCCAAGCTCACAATGCCTTTCTTGCCGACAGAGTGGCAAAAAACAGTCTCCATAAAGACCTGATAAAGAGACAGGTGGTCACAGGGGATTAGCCCTGCGGTACAGAGATTCCATCTAGCAAAGGAGATCATGTAAAGGACCCACCTCCTTCCACAACCTGATCGCCAGGTTTGCCCATGCCCAGCCCCTCTGGGTGGGAGACTTGTTTCTCCTTGTCTATCCCTGCTGCCACCTTGTGGTCACAGATGATAGTACCGTCTTCCCATCCTACTCTCCTAAACACACACGTGCACACATACACACACACCTGATGACACCTTAATAGATCCTTTTGATGTTCCTTTTTAAAAAAAATTTTTTTGAGACCAAGTCTCGCTCTGGCGCCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCTCTGGAGTAGCTGGGACTACAGGCGCATGCCACCATGCCCGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCAC
TTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCAGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGGTTCTCAGGGTTATTCTGAGCTCTGGCAGGCTTGGAGGGGGCATGCCAGGGTGCCTGTGTGAGGGGGAGGAGGGTGTTAGTTCCGGGCTGTTAGGGGACTGTCACCTAATCCTCTGCTCACCCCTGCTGCAGCTGGGGACATTTTGGCTGCTTCCAGAGGCAGCTGCCCCATCCTGTGTTTCCTGCCCCTGCCCCGCCCCAGCCCAGCGTCCTTTGCCTGGTATTTGGCCAACTCCCCAGCCACAGATGTGGGCGTCTCCTGAGAGGCACCTGCAACCACAATTCTAGTAGCAGGGGGTGGGAGACACTGCTTTCAGCAGGCACTGTTGTCCTTTGAGTAAGCTGCCCTGTGTAGGTGACCCTGACTGATGAACACATCTGGGGATGTGACACACCCCTTGCCTCCCATTCTCACCCATGTGGAACACACACTATCACCACCCAAGCTCACAATGCCTTTCTTGCCGACAGAGTGGCAAAAAACAGTCTCCATAAAGACCTGATAAAGAGACAGGTGGTCACAGGGGATTAGCCCTGCGGTACAGAGATTCCATCTAGCAAAGGAGATCATGTAAAGGACCCACCTCCTTCCACAACCTGATCGCCAGGTTTGCCCATGCCCAGCCCCTCTGGGTGGGAGACTTGTTTCTCCTTGTCTATCCCTGCTGCCACCTTGTGGTCACAGATGATAGTACCGTCTTCCCATCCTACTCTCCTAAACACACACGTGCACACATACACACACACCTGATGACACCTTAATAGATCCTTTTGATGTTCCTTTTTAAAAAAAATTTTTTTGAGACCAAGTCTCGCTCTGGCGCCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCTCTGGAGTAGCTGGGACTACAGGCGCATGCCACCATGCCCGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCAC
Task1_train_23289
A mutation found in C17orf107, CHRNE (chromosome 17 open reading frame 107| cholinergic receptor nicotinic epsilon subunit) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Congenital myasthenic syndrome 4C
TTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGGTTCTCAGGGTTATTCTGAGCTCTGGCAGGCTTGGAGGGGGCATGCCAGGGTGCCTGTGTGAGGGGGAGGAGGGTGTTAGTTCCGGGCTGTTAGGGGACTGTCACCTAATCCTCTGCTCACCCCTGCTGCAGCTGGGGACATTTTGGCTGCTTCCAGAGGCAGCTGCCCCATCCTGTGTTTCCTGCCCCTGCCCCGCCCCAGCCCAGCGTCCTTTGCCTGGTATTTGGCCAACTCCCCAGCCACAGATGTGGGCGTCTCCTGAGAGGCACCTGCAACCACAATTCTAGTAGCAGGGGGTGGGAGACACTGCTTTCAGCAGGCACTGTTGTCCTTTGAGTAAGCTGCCCTGTGTAGGTGACCCTGACTGATGAACACATCTGGGGATGTGACACACCCCTTGCCTCCCATTCTCACCCATGTGGAACACACACTATCACCACCCAAGCTCACAATGCCTTTCTTGCCGACAGAGTGGCAAAAAACAGTCTCCATAAAGACCTGATAAAGAGACAGGTGGTCACAGGGGATTAGCCCTGCGGTACAGAGATTCCATCTAGCAAAGGAGATCATGTAAAGGACCCACCTCCTTCCACAACCTGATCGCCAGGTTTGCCCATGCCCAGCCCCTCTGGGTGGGAGACTTGTTTCTCCTTGTCTATCCCTGCTGCCACCTTGTGGTCACAGATGATAGTACCGTCTTCCCATCCTACTCTCCTAAACACACACGTGCACACATACACACACACCTGATGACACCTTAATAGATCCTTTTGATGTTCCTTTTTAAAAAAAATTTTTTTGAGACCAAGTCTCGCTCTGGCGCCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCTCTGGAGTAGCTGGGACTACAGGCGCATGCCACCATGCCCGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCAC
TTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCAGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGGTTCTCAGGGTTATTCTGAGCTCTGGCAGGCTTGGAGGGGGCATGCCAGGGTGCCTGTGTGAGGGGGAGGAGGGTGTTAGTTCCGGGCTGTTAGGGGACTGTCACCTAATCCTCTGCTCACCCCTGCTGCAGCTGGGGACATTTTGGCTGCTTCCAGAGGCAGCTGCCCCATCCTGTGTTTCCTGCCCCTGCCCCGCCCCAGCCCAGCGTCCTTTGCCTGGTATTTGGCCAACTCCCCAGCCACAGATGTGGGCGTCTCCTGAGAGGCACCTGCAACCACAATTCTAGTAGCAGGGGGTGGGAGACACTGCTTTCAGCAGGCACTGTTGTCCTTTGAGTAAGCTGCCCTGTGTAGGTGACCCTGACTGATGAACACATCTGGGGATGTGACACACCCCTTGCCTCCCATTCTCACCCATGTGGAACACACACTATCACCACCCAAGCTCACAATGCCTTTCTTGCCGACAGAGTGGCAAAAAACAGTCTCCATAAAGACCTGATAAAGAGACAGGTGGTCACAGGGGATTAGCCCTGCGGTACAGAGATTCCATCTAGCAAAGGAGATCATGTAAAGGACCCACCTCCTTCCACAACCTGATCGCCAGGTTTGCCCATGCCCAGCCCCTCTGGGTGGGAGACTTGTTTCTCCTTGTCTATCCCTGCTGCCACCTTGTGGTCACAGATGATAGTACCGTCTTCCCATCCTACTCTCCTAAACACACACGTGCACACATACACACACACCTGATGACACCTTAATAGATCCTTTTGATGTTCCTTTTTAAAAAAAATTTTTTTGAGACCAAGTCTCGCTCTGGCGCCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCTCTGGAGTAGCTGGGACTACAGGCGCATGCCACCATGCCCGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCAC
Task1_train_23290
This mutation is located in gene C17orf107, CHRNE (chromosome 17 open reading frame 107| cholinergic receptor nicotinic epsilon subunit) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Congenital myasthenic syndrome 4B
ATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGGTTCTCAGGGTTATTCTGAGCTCTGGCAGGCTTGGAGGGGGCATGCCAGGGTGCCTGTGTGAGGGGGAGGAGGGTGTTAGTTCCGGGCTGTTAGGGGACTGTCACCTAATCCTCTGCTCACCCCTGCTGCAGCTGGGGACATTTTGGCTGCTTCCAGAGGCAGCTGCCCCATCCTGTGTTTCCTGCCCCTGCCCCGCCCCAGCCCAGCGTCCTTTGCCTGGTATTTGGCCAACTCCCCAGCCACAGATGTGGGCGTCTCCTGAGAGGCACCTGCAACCACAATTCTAGTAGCAGGGGGTGGGAGACACTGCTTTCAGCAGGCACTGTTGTCCTTTGAGTAAGCTGCCCTGTGTAGGTGACCCTGACTGATGAACACATCTGGGGATGTGACACACCCCTTGCCTCCCATTCTCACCCATGTGGAACACACACTATCACCACCCAAGCTCACAATGCCTTTCTTGCCGACAGAGTGGCAAAAAACAGTCTCCATAAAGACCTGATAAAGAGACAGGTGGTCACAGGGGATTAGCCCTGCGGTACAGAGATTCCATCTAGCAAAGGAGATCATGTAAAGGACCCACCTCCTTCCACAACCTGATCGCCAGGTTTGCCCATGCCCAGCCCCTCTGGGTGGGAGACTTGTTTCTCCTTGTCTATCCCTGCTGCCACCTTGTGGTCACAGATGATAGTACCGTCTTCCCATCCTACTCTCCTAAACACACACGTGCACACATACACACACACCTGATGACACCTTAATAGATCCTTTTGATGTTCCTTTTTAAAAAAAATTTTTTTGAGACCAAGTCTCGCTCTGGCGCCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCTCTGGAGTAGCTGGGACTACAGGCGCATGCCACCATGCCCGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAGCCACCTACCTGGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCCAGCCTCGATGTTTTTTGTTTTTCTGTTTCTTTTTTTGTTTTTTGTTTTTTGCAGGGGGTGGGGGGACAGGATCTCACTCTGTCACCCAGACAGGAGTACAGTGGCACCACCATAGTTCACTGCGGCTCTCAAACTCCTGGGCTAAAGCGATCCTCCTGCCTCAGCTTCCCAAAGGGTTAGGATTACAGGTGTGAGCCACCACGCCCGGCCTCAGTGTTTTTTAAAGCCTTCTTGAACCATTCTAATCACCTGGAGGGGTGCTTATTTTAAATTCAGATTCCTAGGCTCCATTCCCAGAGAATTATGATTTCGGGACTAGGGTGCCAGGAATCTGTATTTTTAGGAAACTGTCCAGG
ATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCGGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGGTTCTCAGGGTTATTCTGAGCTCTGGCAGGCTTGGAGGGGGCATGCCAGGGTGCCTGTGTGAGGGGGAGGAGGGTGTTAGTTCCGGGCTGTTAGGGGACTGTCACCTAATCCTCTGCTCACCCCTGCTGCAGCTGGGGACATTTTGGCTGCTTCCAGAGGCAGCTGCCCCATCCTGTGTTTCCTGCCCCTGCCCCGCCCCAGCCCAGCGTCCTTTGCCTGGTATTTGGCCAACTCCCCAGCCACAGATGTGGGCGTCTCCTGAGAGGCACCTGCAACCACAATTCTAGTAGCAGGGGGTGGGAGACACTGCTTTCAGCAGGCACTGTTGTCCTTTGAGTAAGCTGCCCTGTGTAGGTGACCCTGACTGATGAACACATCTGGGGATGTGACACACCCCTTGCCTCCCATTCTCACCCATGTGGAACACACACTATCACCACCCAAGCTCACAATGCCTTTCTTGCCGACAGAGTGGCAAAAAACAGTCTCCATAAAGACCTGATAAAGAGACAGGTGGTCACAGGGGATTAGCCCTGCGGTACAGAGATTCCATCTAGCAAAGGAGATCATGTAAAGGACCCACCTCCTTCCACAACCTGATCGCCAGGTTTGCCCATGCCCAGCCCCTCTGGGTGGGAGACTTGTTTCTCCTTGTCTATCCCTGCTGCCACCTTGTGGTCACAGATGATAGTACCGTCTTCCCATCCTACTCTCCTAAACACACACGTGCACACATACACACACACCTGATGACACCTTAATAGATCCTTTTGATGTTCCTTTTTAAAAAAAATTTTTTTGAGACCAAGTCTCGCTCTGGCGCCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCTCTGGAGTAGCTGGGACTACAGGCGCATGCCACCATGCCCGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAGCCACCTACCTGGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCCAGCCTCGATGTTTTTTGTTTTTCTGTTTCTTTTTTTGTTTTTTGTTTTTTGCAGGGGGTGGGGGGACAGGATCTCACTCTGTCACCCAGACAGGAGTACAGTGGCACCACCATAGTTCACTGCGGCTCTCAAACTCCTGGGCTAAAGCGATCCTCCTGCCTCAGCTTCCCAAAGGGTTAGGATTACAGGTGTGAGCCACCACGCCCGGCCTCAGTGTTTTTTAAAGCCTTCTTGAACCATTCTAATCACCTGGAGGGGTGCTTATTTTAAATTCAGATTCCTAGGCTCCATTCCCAGAGAATTATGATTTCGGGACTAGGGTGCCAGGAATCTGTATTTTTAGGAAACTGTCCAGG
Task1_train_23291
This mutation is located in gene GP1BA (glycoprotein Ib platelet subunit alpha) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Bernard-Soulier syndrome, type A2, autosomal dominant
GCAGAGGTGGCAGTGAGCCGAGATGGAGCCATTGCACTCCAGCCTGGGAGACAGGGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAAGGAGGAAGAGGAGGAAGAAGAAGAGGAGGAGGAGGATATGAACAAGAAACAACAACAACCTTGGACTAGGAATGCTGGCAGGATGGTGTGGATGGAGAGTAGATTTGAGAGAGACGGGAGATAAAATCACCAGGACTTGGTGATGGGGATGAAAGACGGGAGACGTTAGAGATGACTATTAGGGATTTTGTTTGTGTTGACTGAATGGTTAGGTAAATGAGTGGATGATGGTGCCACTCACCAGGCTGAGCAACACAGGAGGAGAAGCCATTTGGAGAGAGATGGTGAGTTCAGCTTTGAACATATTGTTTTGGTGTCTGTGGGACATCCAAGTAGAGATGTCCAGAAGGCAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAGAGACATAGATTTGAGAGTCATTAGGTTGTAGGTGGTGGTTGAAGGCAAGGGAATGGATGAGGATAATCTCAGGTGGTTGCATAGCGTAAGAAAAGAAGAGAATGCCGGGCGCGGTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGCTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACAC
GCAGAGGTGGCAGTGAGCCGAGATGGAGCCATTGCACTCCAGCCTGGGAGACAGGGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAAGGAGGAAGAGGAGGAAGAAGAAGAGGAGGAGGAGGATATGAACAAGAAACAACAACAACCTTGGACTAGGAATGCTGGCAGGATGGTGTGGATGGAGAGTAGATTTGAGAGAGACGGGAGATAAAATCACCAGGACTTGGTGATGGGGATGAAAGACGGGAGACGTTAGAGATGACTATTAGGGATTTTGTTTGTGTTGACTGAATGGTTAGGTAAATGAGTGGATGATGGTGCCACTCACCAGGCTGAGCAACACAGGAGGAGAAGCCATTTGGAGAGAGATGGTGAGTTCAGCTTTGAACATATTGTTTTGGTGTCTGTGGGACATCCAAGTAGAGATGTCCAGAAGGCAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAGAGACATAGATTTGAGAGTCATTAGGTTGTAGGTGGTGGTTGAAGGCAAGGGAATGGATGAGGATAATCTCAGGTGGTTGCATAGCGTAAGAAAAGAAGAGAATGCCGGGCGCGGTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCGGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGCTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACAC
Task1_train_23292
A genomic change on Chromosome 17 affects GP1BA (glycoprotein Ib platelet subunit alpha). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Bernard Soulier syndrome
GGCAGGATGGTGTGGATGGAGAGTAGATTTGAGAGAGACGGGAGATAAAATCACCAGGACTTGGTGATGGGGATGAAAGACGGGAGACGTTAGAGATGACTATTAGGGATTTTGTTTGTGTTGACTGAATGGTTAGGTAAATGAGTGGATGATGGTGCCACTCACCAGGCTGAGCAACACAGGAGGAGAAGCCATTTGGAGAGAGATGGTGAGTTCAGCTTTGAACATATTGTTTTGGTGTCTGTGGGACATCCAAGTAGAGATGTCCAGAAGGCAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAGAGACATAGATTTGAGAGTCATTAGGTTGTAGGTGGTGGTTGAAGGCAAGGGAATGGATGAGGATAATCTCAGGTGGTTGCATAGCGTAAGAAAAGAAGAGAATGCCGGGCGCGGTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGCTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACACAGGCACACAATTTCAGTCCCAGCCAAAGCAGAAGGGGTAATGACATGGACTTGGCGGGGGGACAAGACAAAGCTCCCGATGCTGCATGGGGCGCTGCCAGATCTCACGGTGAACCATTTTGGCAGAATACAGCATGGTTCCCACATGCATCTATGCACAGAAGAAAATCTGGAAAGTGATTTA
GGCAGGATGGTGTGGATGGAGAGTAGATTTGAGAGAGACGGGAGATAAAATCACCAGGACTTGGTGATGGGGATGAAAGACGGGAGACGTTAGAGATGACTATTAGGGATTTTGTTTGTGTTGACTGAATGGTTAGGTAAATGAGTGGATGATGGTGCCACTCACCAGGCTGAGCAACACAGGAGGAGAAGCCATTTGGAGAGAGATGGTGAGTTCAGCTTTGAACATATTGTTTTGGTGTCTGTGGGACATCCAAGTAGAGATGTCCAGAAGGCAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAGAGACATAGATTTGAGAGTCATTAGGTTGTAGGTGGTGGTTGAAGGCAAGGGAATGGATGAGGATAATCTCAGGTGGTTGCATAGCGTAAGAAAAGAAGAGAATGCCGGGCGCGGTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGCGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGCTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACACAGGCACACAATTTCAGTCCCAGCCAAAGCAGAAGGGGTAATGACATGGACTTGGCGGGGGGACAAGACAAAGCTCCCGATGCTGCATGGGGCGCTGCCAGATCTCACGGTGAACCATTTTGGCAGAATACAGCATGGTTCCCACATGCATCTATGCACAGAAGAAAATCTGGAAAGTGATTTA
Task1_train_23293
This variant impacts the gene GP1BA (glycoprotein Ib platelet subunit alpha) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
Pathogenic; Bernard Soulier syndrome
ATTTGGAGAGAGATGGTGAGTTCAGCTTTGAACATATTGTTTTGGTGTCTGTGGGACATCCAAGTAGAGATGTCCAGAAGGCAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAGAGACATAGATTTGAGAGTCATTAGGTTGTAGGTGGTGGTTGAAGGCAAGGGAATGGATGAGGATAATCTCAGGTGGTTGCATAGCGTAAGAAAAGAAGAGAATGCCGGGCGCGGTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGCTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACACAGGCACACAATTTCAGTCCCAGCCAAAGCAGAAGGGGTAATGACATGGACTTGGCGGGGGGACAAGACAAAGCTCCCGATGCTGCATGGGGCGCTGCCAGATCTCACGGTGAACCATTTTGGCAGAATACAGCATGGTTCCCACATGCATCTATGCACAGAAGAAAATCTGGAAAGTGATTTATCAGGATGTGAGCACTCGTTGTGTCTGGATGTTACAAATATGGGTGGTTTTATTTTCTTTTTCCCTGTTTAGCATTTTCTAGTTTTCCACTATTATTGTATATTATCTGTATAATAAAAAATAATTTTAGGGTTGGGAGTGATGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCA
ATTTGGAGAGAGATGGTGAGTTCAGCTTTGAACATATTGTTTTGGTGTCTGTGGGACATCCAAGTAGAGATGTCCAGAAGGCAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAGAGACATAGATTTGAGAGTCATTAGGTTGTAGGTGGTGGTTGAAGGCAAGGGAATGGATGAGGATAATCTCAGGTGGTTGCATAGCGTAAGAAAAGAAGAGAATGCCGGGCGCGGTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCCCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGCTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACACAGGCACACAATTTCAGTCCCAGCCAAAGCAGAAGGGGTAATGACATGGACTTGGCGGGGGGACAAGACAAAGCTCCCGATGCTGCATGGGGCGCTGCCAGATCTCACGGTGAACCATTTTGGCAGAATACAGCATGGTTCCCACATGCATCTATGCACAGAAGAAAATCTGGAAAGTGATTTATCAGGATGTGAGCACTCGTTGTGTCTGGATGTTACAAATATGGGTGGTTTTATTTTCTTTTTCCCTGTTTAGCATTTTCTAGTTTTCCACTATTATTGTATATTATCTGTATAATAAAAAATAATTTTAGGGTTGGGAGTGATGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCA
Task1_train_23294
This sequence change occurs on Chromosome 17, altering GP1BA (glycoprotein Ib platelet subunit alpha). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Nonarteritic anterior ischemic optic neuropathy, susceptibility to
CAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAGAGACATAGATTTGAGAGTCATTAGGTTGTAGGTGGTGGTTGAAGGCAAGGGAATGGATGAGGATAATCTCAGGTGGTTGCATAGCGTAAGAAAAGAAGAGAATGCCGGGCGCGGTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGCTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACACAGGCACACAATTTCAGTCCCAGCCAAAGCAGAAGGGGTAATGACATGGACTTGGCGGGGGGACAAGACAAAGCTCCCGATGCTGCATGGGGCGCTGCCAGATCTCACGGTGAACCATTTTGGCAGAATACAGCATGGTTCCCACATGCATCTATGCACAGAAGAAAATCTGGAAAGTGATTTATCAGGATGTGAGCACTCGTTGTGTCTGGATGTTACAAATATGGGTGGTTTTATTTTCTTTTTCCCTGTTTAGCATTTTCTAGTTTTCCACTATTATTGTATATTATCTGTATAATAAAAAATAATTTTAGGGTTGGGAGTGATGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTAGGGAGTTCGAGACCAGCCTGGCAAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCG
CAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAGAGACATAGATTTGAGAGTCATTAGGTTGTAGGTGGTGGTTGAAGGCAAGGGAATGGATGAGGATAATCTCAGGTGGTTGCATAGCGTAAGAAAAGAAGAGAATGCCGGGCGCGGTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGTTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACACAGGCACACAATTTCAGTCCCAGCCAAAGCAGAAGGGGTAATGACATGGACTTGGCGGGGGGACAAGACAAAGCTCCCGATGCTGCATGGGGCGCTGCCAGATCTCACGGTGAACCATTTTGGCAGAATACAGCATGGTTCCCACATGCATCTATGCACAGAAGAAAATCTGGAAAGTGATTTATCAGGATGTGAGCACTCGTTGTGTCTGGATGTTACAAATATGGGTGGTTTTATTTTCTTTTTCCCTGTTTAGCATTTTCTAGTTTTCCACTATTATTGTATATTATCTGTATAATAAAAAATAATTTTAGGGTTGGGAGTGATGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTAGGGAGTTCGAGACCAGCCTGGCAAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCG
Task1_train_23295
A variant on Chromosome 17 in gene GP1BA (glycoprotein Ib platelet subunit alpha) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Bernard-Soulier syndrome, type A2, autosomal dominant
CAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAGAGACATAGATTTGAGAGTCATTAGGTTGTAGGTGGTGGTTGAAGGCAAGGGAATGGATGAGGATAATCTCAGGTGGTTGCATAGCGTAAGAAAAGAAGAGAATGCCGGGCGCGGTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGCTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACACAGGCACACAATTTCAGTCCCAGCCAAAGCAGAAGGGGTAATGACATGGACTTGGCGGGGGGACAAGACAAAGCTCCCGATGCTGCATGGGGCGCTGCCAGATCTCACGGTGAACCATTTTGGCAGAATACAGCATGGTTCCCACATGCATCTATGCACAGAAGAAAATCTGGAAAGTGATTTATCAGGATGTGAGCACTCGTTGTGTCTGGATGTTACAAATATGGGTGGTTTTATTTTCTTTTTCCCTGTTTAGCATTTTCTAGTTTTCCACTATTATTGTATATTATCTGTATAATAAAAAATAATTTTAGGGTTGGGAGTGATGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTAGGGAGTTCGAGACCAGCCTGGCAAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCG
CAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAGAGACATAGATTTGAGAGTCATTAGGTTGTAGGTGGTGGTTGAAGGCAAGGGAATGGATGAGGATAATCTCAGGTGGTTGCATAGCGTAAGAAAAGAAGAGAATGCCGGGCGCGGTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGTTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACACAGGCACACAATTTCAGTCCCAGCCAAAGCAGAAGGGGTAATGACATGGACTTGGCGGGGGGACAAGACAAAGCTCCCGATGCTGCATGGGGCGCTGCCAGATCTCACGGTGAACCATTTTGGCAGAATACAGCATGGTTCCCACATGCATCTATGCACAGAAGAAAATCTGGAAAGTGATTTATCAGGATGTGAGCACTCGTTGTGTCTGGATGTTACAAATATGGGTGGTTTTATTTTCTTTTTCCCTGTTTAGCATTTTCTAGTTTTCCACTATTATTGTATATTATCTGTATAATAAAAAATAATTTTAGGGTTGGGAGTGATGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTAGGGAGTTCGAGACCAGCCTGGCAAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCG
Task1_train_23296
This gene mutation involves GP1BA (glycoprotein Ib platelet subunit alpha) on Chromosome 17. Is it associated with any clinical condition, or is it benign?
Pathogenic; Bernard Soulier syndrome
CAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAGAGACATAGATTTGAGAGTCATTAGGTTGTAGGTGGTGGTTGAAGGCAAGGGAATGGATGAGGATAATCTCAGGTGGTTGCATAGCGTAAGAAAAGAAGAGAATGCCGGGCGCGGTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGCTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACACAGGCACACAATTTCAGTCCCAGCCAAAGCAGAAGGGGTAATGACATGGACTTGGCGGGGGGACAAGACAAAGCTCCCGATGCTGCATGGGGCGCTGCCAGATCTCACGGTGAACCATTTTGGCAGAATACAGCATGGTTCCCACATGCATCTATGCACAGAAGAAAATCTGGAAAGTGATTTATCAGGATGTGAGCACTCGTTGTGTCTGGATGTTACAAATATGGGTGGTTTTATTTTCTTTTTCCCTGTTTAGCATTTTCTAGTTTTCCACTATTATTGTATATTATCTGTATAATAAAAAATAATTTTAGGGTTGGGAGTGATGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTAGGGAGTTCGAGACCAGCCTGGCAAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCG
CAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAGAGACATAGATTTGAGAGTCATTAGGTTGTAGGTGGTGGTTGAAGGCAAGGGAATGGATGAGGATAATCTCAGGTGGTTGCATAGCGTAAGAAAAGAAGAGAATGCCGGGCGCGGTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGTTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACACAGGCACACAATTTCAGTCCCAGCCAAAGCAGAAGGGGTAATGACATGGACTTGGCGGGGGGACAAGACAAAGCTCCCGATGCTGCATGGGGCGCTGCCAGATCTCACGGTGAACCATTTTGGCAGAATACAGCATGGTTCCCACATGCATCTATGCACAGAAGAAAATCTGGAAAGTGATTTATCAGGATGTGAGCACTCGTTGTGTCTGGATGTTACAAATATGGGTGGTTTTATTTTCTTTTTCCCTGTTTAGCATTTTCTAGTTTTCCACTATTATTGTATATTATCTGTATAATAAAAAATAATTTTAGGGTTGGGAGTGATGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTAGGGAGTTCGAGACCAGCCTGGCAAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCG
Task1_train_23297
Given a variant located on Chromosome 17 and affecting GP1BA (glycoprotein Ib platelet subunit alpha), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Pseudo von Willebrand disease
CAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAGAGACATAGATTTGAGAGTCATTAGGTTGTAGGTGGTGGTTGAAGGCAAGGGAATGGATGAGGATAATCTCAGGTGGTTGCATAGCGTAAGAAAAGAAGAGAATGCCGGGCGCGGTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGCTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACACAGGCACACAATTTCAGTCCCAGCCAAAGCAGAAGGGGTAATGACATGGACTTGGCGGGGGGACAAGACAAAGCTCCCGATGCTGCATGGGGCGCTGCCAGATCTCACGGTGAACCATTTTGGCAGAATACAGCATGGTTCCCACATGCATCTATGCACAGAAGAAAATCTGGAAAGTGATTTATCAGGATGTGAGCACTCGTTGTGTCTGGATGTTACAAATATGGGTGGTTTTATTTTCTTTTTCCCTGTTTAGCATTTTCTAGTTTTCCACTATTATTGTATATTATCTGTATAATAAAAAATAATTTTAGGGTTGGGAGTGATGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTAGGGAGTTCGAGACCAGCCTGGCAAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCG
CAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAGAGACATAGATTTGAGAGTCATTAGGTTGTAGGTGGTGGTTGAAGGCAAGGGAATGGATGAGGATAATCTCAGGTGGTTGCATAGCGTAAGAAAAGAAGAGAATGCCGGGCGCGGTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGTTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACACAGGCACACAATTTCAGTCCCAGCCAAAGCAGAAGGGGTAATGACATGGACTTGGCGGGGGGACAAGACAAAGCTCCCGATGCTGCATGGGGCGCTGCCAGATCTCACGGTGAACCATTTTGGCAGAATACAGCATGGTTCCCACATGCATCTATGCACAGAAGAAAATCTGGAAAGTGATTTATCAGGATGTGAGCACTCGTTGTGTCTGGATGTTACAAATATGGGTGGTTTTATTTTCTTTTTCCCTGTTTAGCATTTTCTAGTTTTCCACTATTATTGTATATTATCTGTATAATAAAAAATAATTTTAGGGTTGGGAGTGATGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTAGGGAGTTCGAGACCAGCCTGGCAAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCG
Task1_train_23298
A variant was discovered in gene GP1BA (glycoprotein Ib platelet subunit alpha), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Bernard-Soulier syndrome, type A2, autosomal dominant
CAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAGAGACATAGATTTGAGAGTCATTAGGTTGTAGGTGGTGGTTGAAGGCAAGGGAATGGATGAGGATAATCTCAGGTGGTTGCATAGCGTAAGAAAAGAAGAGAATGCCGGGCGCGGTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGCTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACACAGGCACACAATTTCAGTCCCAGCCAAAGCAGAAGGGGTAATGACATGGACTTGGCGGGGGGACAAGACAAAGCTCCCGATGCTGCATGGGGCGCTGCCAGATCTCACGGTGAACCATTTTGGCAGAATACAGCATGGTTCCCACATGCATCTATGCACAGAAGAAAATCTGGAAAGTGATTTATCAGGATGTGAGCACTCGTTGTGTCTGGATGTTACAAATATGGGTGGTTTTATTTTCTTTTTCCCTGTTTAGCATTTTCTAGTTTTCCACTATTATTGTATATTATCTGTATAATAAAAAATAATTTTAGGGTTGGGAGTGATGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTAGGGAGTTCGAGACCAGCCTGGCAAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCG
CAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAGAGACATAGATTTGAGAGTCATTAGGTTGTAGGTGGTGGTTGAAGGCAAGGGAATGGATGAGGATAATCTCAGGTGGTTGCATAGCGTAAGAAAAGAAGAGAATGCCGGGCGCGGTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGTTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACACAGGCACACAATTTCAGTCCCAGCCAAAGCAGAAGGGGTAATGACATGGACTTGGCGGGGGGACAAGACAAAGCTCCCGATGCTGCATGGGGCGCTGCCAGATCTCACGGTGAACCATTTTGGCAGAATACAGCATGGTTCCCACATGCATCTATGCACAGAAGAAAATCTGGAAAGTGATTTATCAGGATGTGAGCACTCGTTGTGTCTGGATGTTACAAATATGGGTGGTTTTATTTTCTTTTTCCCTGTTTAGCATTTTCTAGTTTTCCACTATTATTGTATATTATCTGTATAATAAAAAATAATTTTAGGGTTGGGAGTGATGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTAGGGAGTTCGAGACCAGCCTGGCAAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCG
Task1_train_23299
This variant impacts the gene GP1BA (glycoprotein Ib platelet subunit alpha) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
Pathogenic; Bernard Soulier syndrome
GTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGCTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACACAGGCACACAATTTCAGTCCCAGCCAAAGCAGAAGGGGTAATGACATGGACTTGGCGGGGGGACAAGACAAAGCTCCCGATGCTGCATGGGGCGCTGCCAGATCTCACGGTGAACCATTTTGGCAGAATACAGCATGGTTCCCACATGCATCTATGCACAGAAGAAAATCTGGAAAGTGATTTATCAGGATGTGAGCACTCGTTGTGTCTGGATGTTACAAATATGGGTGGTTTTATTTTCTTTTTCCCTGTTTAGCATTTTCTAGTTTTCCACTATTATTGTATATTATCTGTATAATAAAAAATAATTTTAGGGTTGGGAGTGATGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTAGGGAGTTCGAGACCAGCCTGGCAAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTATAACCCCAGCTACTCGGGAGGGTGGGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAAGTTGCCGTGAGCCAAGATCGTACCACTGAACTCCAGCCTGGGTAACAGAGTGAGACTCCGTCTAAAAAAAAAAAAAAAAAAAAAA
GTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGCTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATCCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACACAGGCACACAATTTCAGTCCCAGCCAAAGCAGAAGGGGTAATGACATGGACTTGGCGGGGGGACAAGACAAAGCTCCCGATGCTGCATGGGGCGCTGCCAGATCTCACGGTGAACCATTTTGGCAGAATACAGCATGGTTCCCACATGCATCTATGCACAGAAGAAAATCTGGAAAGTGATTTATCAGGATGTGAGCACTCGTTGTGTCTGGATGTTACAAATATGGGTGGTTTTATTTTCTTTTTCCCTGTTTAGCATTTTCTAGTTTTCCACTATTATTGTATATTATCTGTATAATAAAAAATAATTTTAGGGTTGGGAGTGATGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTAGGGAGTTCGAGACCAGCCTGGCAAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTATAACCCCAGCTACTCGGGAGGGTGGGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAAGTTGCCGTGAGCCAAGATCGTACCACTGAACTCCAGCCTGGGTAACAGAGTGAGACTCCGTCTAAAAAAAAAAAAAAAAAAAAAA