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
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ATGCCTGTAATCCCAGCTACTTGGGAAGGCTGAGGCAGGCAAATCACTTTAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACCATCTCAAAAAAAAAAAAAAAAAAACCCGGGCATGGTGGCGCACGTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCTTGAGAATCGTTTGCACCTGGGAGACGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCCCTCCATCCTGGGCAGTGAAGTAAGACTCTGTCTCCAGGAAAAAAAAAGAAAAGAAACAAGAAAAACATACTCTTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGGACTTTGGGAGGCCAAGGCAGGAGGAGCCCAGGAGTTTGAGACCAGCCTGAGCAACATAACAAGACCCTGTCTCTACCAAAATAAAAGTTTAAAAATTAGTCATGCATGATGATGCATGCCTATAGTCCTAGCTACTTGGGAGGCTAAGGCAGGAGGATTACTTGAACCCAGGAATTTGAGGCTTTAGTGAGCCGTGATCATGCCACTATACTCCAGCCTGGGCAACAGAGTTGCTGTCTCTTTTTAAAACAAAACAAAATTTTGCAGTGCTGTGCTATAACTGCACTATCCAGCGTGGTAGCTACTAGCCACATGCAGCTATTATACTCTTGAAATGTGGCTAGTGAGACTGAAGAACTGAATTGTTGGTTGTATGTAATCTTAATATTATATATTAAAGTAGGCGTACATGGACAGTAGCTACCATGTTCAACTGTGCAGTTCTAAGCCTTTTTCTTTAATGTGTAGATGAATGTGCTATTTTTTATAAAAATGGTATCATGCCCCTTAAGGTAGCTTTGTAGCAAACCTTTAATTTAGAAAGTATGTGATCCTTGCTTATGTTGTTAGATGCTCTTCTACACTGATCTACAGACAATGCTTTGTGAACATCTTTGCTAACTAAATCTCTGGGCATGTCCTTAAAGATAAATTGCAAGAACAGAACTGCTGCGACAGGGGAAATATGGATGGATAGATGGATGGATGATTAAATGGATGGATGATTAGATGGATGAATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATAGATGGATGATTGGATGGTTGGATGGATAGATGGATGATTGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGGATGATTAGATGGATGATTAGATGGATGATTGGATGGATAGATAGATGGGTGGGTGGGTGGATGGATGGATGATTGGATGATTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATATATAGATATATAGTGAATGCCTGTATATCCTTCACTTAGTTACCATTTGTTGGTTTTCCTTCATGTATGTGTGTATATTTTGCTGAAATCATTTGAGCGTTCTTTGCAGACATCGTAACACTTTACCCCCAAGTATTTTAGCATGAACCACCTAAGAACAAGGATAGTATATAAATAACCAAAATAAAATTATTCACACTCAAGAAATTTACCATTGATAGACTACATATTGAGATTTGTTCTTGTTATTTCCATAATGCCCTGCGGGACTTCTTTTTAACCCTCATCCAGGACCCAGTCAGGGATCGTACGTTATATTCACTCCTCATGTCTTATGAGTTTTCAGTTTCCTTTAATCTAGAATCCCCTAGACTTTTATTTTCTTCTGGTCTTTTGATGTTTTTGGTATGTATAGTTTTATCGTATTATGAAATAGATGCTATTTAAACATTTTGCCTTTTACTGAGTCAAATAACTTTTTTGTTTTTAAGGTGGGTCATGATAACTGGGTACGTGGAGTTCTGTTCCATTCTGGGGGGAAGTTTATTTTGAGTTGTGCTGATGACAAGACCCTACGCGTATGGGATTACAAGAACAAGCGATGCATGAAGACCCTCAATGCGCATGAACACTTTGTTACCTCCTTGGGTATGTACGCCTCGCGAGGTCTCTGAACATTAGATTTTGGAGTGCCAGACAAACTGTGTTTTACATAATCGTGTGGACTTTGCCAGGTAAGAAATGACTGTGCTTTCAGGGCAGAATAGAGAAGACATGAAAATCTTGTGGATTCCTACCATTTGTTTTAAATTCTCCTTTCCCGTTAACTCTTTCCATCGTTAGCCTTATAATAAAAACATTACTTTCTCCACTGCACAACATTGGTTTTGGAAACCACAATTTGTGAAGAGGTTACTTACCACTCTGATGGGTAATTTTTCTCCCCTATTAGTTTGTTTCTCAAACAAAATCTTCCTCAACCTTTCCCACTGGCAGGTGTATACTATCAGATACTAGAAACTCAGAAAATTGTATTTGATTTGAGTAAACATCCTCACTATCATCTGGACTTGAATCTGGAATTTAAGAGAGTGAATACAGTCAAGTATAATAAATGCACTAAAGTATAATGGACCAAAGCCTGCGTAAGGTGGGCTAATACCTGCCTCACAGGATTGGTTCAAGGATTAGGCACAAATACGGAGCATTTATGCCATGCCTGGAACATCGTGTTCAGTAAATGGATATGGCGAGACTGTGTATTGTTAGATTTGAGCCCTGCTGTGCCTTAGTCCCAGCTACTCAGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGGAGTTCTGGGTTACAGTGTGCTGTGCTGATGGGATGTTTGCACTAAGTGCAGCATCAATATGGTGACCTCCTGGGAACAGGAGACTCCCAGGTTGCCTAAGGAGGGGTGACCTGGCCCAGGTCAGAAACAGAGCAGGTCAAAACTCCCTTGCTGATCAGTAGTGGGATCGCACCTTTGAACAGCCACTGCACTCCAGCCTGGGCAACATAGTGAGACCCTGCCTTTGAAAAAAGAAGAAAAAGGATTTGAGCCCCATTTGGGATGGGCCAAAGAGGAACAGGCGTTTTTATTGAGATGTTAATACAGGATTTGATCATTGAGTCTCAACTTCCCTAACTGAATTGGCAAACTAGATACCTTCTTGGGTTATGGTATATTAGAGAAACACGAAAACTACTGGCATTTGGACTTTCTTAGAATTTTGTGGCTCATTAAAAATTGTATCTGGCTCAGTGTGATGGAGGGTTGGGACCGGGCAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAGTCATGGCTCGCTGCAGCCTCGACTTCCCAGCTCAAACAGTTCTGCATCAGTCTCCCGAGTAGCTGGGACTACAGGCACACACTACCATGCCCGGCTAATTTTTTTTTTAATTTTGTATTTTGTAGAGAGGGGGTCTCACTATGTTTGTTGTCCAGGCTTACGTGTGAGTTTTAAATAAACCATTTCTTTTTCTTTCAGATTTCCACAAGACGGCACCCTATGTCGTCACTGGCAGCGTAGATCAAACAGTAAAAGTGTGGGAGTGCCGTTGATTGTGTCTCCTTCGGCCCCTCCTCCCTCTTTTCCTCTGGATGCACTCTGATGATACCATGGTTACCCCATTGAGCTCTGTTTAAATAAATATTGTCCTTTCATGTAAATTATTCTGGATGTAGATTGAGCTTATTAAATGTTACACACAAAGTATTCATGCATGGTGAATCCAAATTGTATACTGTAAATTTACATACGTTGTCTAGAAGTACCATAGGGTTTAAAAACCTGGGCTGGCATTGGTCACACCAGGCCTAAGAAGGCAGAAGTTGAATCAATTGAACTAGGGCACTAAACTGAATAGTTGACAGTGTCATTTTATGTTGGATTATTAATTCCTGTTTTTCTTTCTGCTATCTGTTGGTGCCTGACTTGATGGCCTCATTTGGGGAAAAGTGGTGGTTATTAGGGCTTTTTCTGAAATGTGTATCTATGTAACATCACTTAAGTGTGCTTAATAAATCTTCTGTAAGGATTTTAGATGATAAGGCTACAATTCAGAATCTTCTGAACCATCTATGTAATGAATGGGGATTATACATTGGAATTTTTGTCATGACACAT
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ATGCCTGTAATCCCAGCTACTTGGGAAGGCTGAGGCAGGCAAATCACTTTAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACCATCTCAAAAAAAAAAAAAAAAAAACCCGGGCATGGTGGCGCACGTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCTTGAGAATCGTTTGCACCTGGGAGACGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCCCTCCATCCTGGGCAGTGAAGTAAGACTCTGTCTCCAGGAAAAAAAAAGAAAAGAAACAAGAAAAACATACTCTTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGGACTTTGGGAGGCCAAGGCAGGAGGAGCCCAGGAGTTTGAGACCAGCCTGAGCAACATAACAAGACCCTGTCTCTACCAAAATAAAAGTTTAAAAATTAGTCATGCATGATGATGCATGCCTATAGTCCTAGCTACTTGGGAGGCTAAGGCAGGAGGATTACTTGAACCCAGGAATTTGAGGCTTTAGTGAGCCGTGATCATGCCACTATACTCCAGCCTGGGCAACAGAGTTGCTGTCTCTTTTTAAAACAAAACAAAATTTTGCAGTGCTGTGCTATAACTGCACTATCCAGCGTGGTAGCTACTAGCCACATGCAGCTATTATACTCTTGAAATGTGGCTAGTGAGACTGAAGAACTGAATTGTTGGTTGTATGTAATCTTAATATTATATATTAAAGTAGGCGTACATGGACAGTAGCTACCATGTTCAACTGTGCAGTTCTAAGCCTTTTTCTTTAATGTGTAGATGAATGTGCTATTTTTTATAAAAATGGTATCATGCCCCTTAAGGTAGCTTTGTAGCAAACCTTTAATTTAGAAAGTATGTGATCCTTGCTTATGTTGTTAGATGCTCTTCTACACTGATCTACAGACAATGCTTTGTGAACATCTTTGCTAACTAAATCTCTGGGCATGTCCTTAAAGATAAATTGCAAGAACAGAACTGCTGCGACAGGGGAAATATGGATGGATAGATGGATGGATGATTAAATGGATGGATGATTAGATGGATGAATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATAGATGGATGATTGGATGGTTGGATGGATAGATGGATGATTGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGGATGATTAGATGGATGATTAGATGGATGATTGGATGGATAGATAGATGGGTGGGTGGGTGGATGGATGGATGATTGGATGATTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATATATAGATATATAGTGAATGCCTGTATATCCTTCACTTAGTTACCATTTGTTGGTTTTCCTTCATGTATGTGTGTATATTTTGCTGAAATCATTTGAGCGTTCTTTGCAGACATCGTAACACTTTACCCCCAAGTATTTTAGCATGAACCACCTAAGAACAAGGATAGTATATAAATAACCAAAATAAAATTATTCACACTCAAGAAATTTACCATTGATAGACTACATATTGAGATTTGTTCTTGTTATTTCCATAATGCCCTGCGGGACTTCTTTTTAACCCTCATCCAGGACCCAGTCAGGGATCGTACGTTATATTCACTCCTCATGTCTTATGAGTTTTCAGTTTCCTTTAATCTAGAATCCCCTAGACTTTTATTTTCTTCTGGTCTTTTGATGTTTTTGGTATGTATAGTTTTATCGTATTATGAAATAGATGCTATTTAAACATTTTGCCTTTTACTGAGTCAAATAACTTTTTTGTTTTTAAGGTGGGTCATGATAACTGGGTACGTGGAGTTCTGTTCCATTCTGGGGGGAAGTTTATTTTGAGTTGTGCTGATGACAAGACCCTACGCGTATGGGATTACAAGAACAAGCGATGCATGAAGACCCTCAATGCGCATGAACACTTTGTTACCTCCTTGTGTATGTACGCCTCGCGAGGTCTCTGAACATTAGATTTTGGAGTGCCAGACAAACTGTGTTTTACATAATCGTGTGGACTTTGCCAGGTAAGAAATGACTGTGCTTTCAGGGCAGAATAGAGAAGACATGAAAATCTTGTGGATTCCTACCATTTGTTTTAAATTCTCCTTTCCCGTTAACTCTTTCCATCGTTAGCCTTATAATAAAAACATTACTTTCTCCACTGCACAACATTGGTTTTGGAAACCACAATTTGTGAAGAGGTTACTTACCACTCTGATGGGTAATTTTTCTCCCCTATTAGTTTGTTTCTCAAACAAAATCTTCCTCAACCTTTCCCACTGGCAGGTGTATACTATCAGATACTAGAAACTCAGAAAATTGTATTTGATTTGAGTAAACATCCTCACTATCATCTGGACTTGAATCTGGAATTTAAGAGAGTGAATACAGTCAAGTATAATAAATGCACTAAAGTATAATGGACCAAAGCCTGCGTAAGGTGGGCTAATACCTGCCTCACAGGATTGGTTCAAGGATTAGGCACAAATACGGAGCATTTATGCCATGCCTGGAACATCGTGTTCAGTAAATGGATATGGCGAGACTGTGTATTGTTAGATTTGAGCCCTGCTGTGCCTTAGTCCCAGCTACTCAGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGGAGTTCTGGGTTACAGTGTGCTGTGCTGATGGGATGTTTGCACTAAGTGCAGCATCAATATGGTGACCTCCTGGGAACAGGAGACTCCCAGGTTGCCTAAGGAGGGGTGACCTGGCCCAGGTCAGAAACAGAGCAGGTCAAAACTCCCTTGCTGATCAGTAGTGGGATCGCACCTTTGAACAGCCACTGCACTCCAGCCTGGGCAACATAGTGAGACCCTGCCTTTGAAAAAAGAAGAAAAAGGATTTGAGCCCCATTTGGGATGGGCCAAAGAGGAACAGGCGTTTTTATTGAGATGTTAATACAGGATTTGATCATTGAGTCTCAACTTCCCTAACTGAATTGGCAAACTAGATACCTTCTTGGGTTATGGTATATTAGAGAAACACGAAAACTACTGGCATTTGGACTTTCTTAGAATTTTGTGGCTCATTAAAAATTGTATCTGGCTCAGTGTGATGGAGGGTTGGGACCGGGCAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAGTCATGGCTCGCTGCAGCCTCGACTTCCCAGCTCAAACAGTTCTGCATCAGTCTCCCGAGTAGCTGGGACTACAGGCACACACTACCATGCCCGGCTAATTTTTTTTTTAATTTTGTATTTTGTAGAGAGGGGGTCTCACTATGTTTGTTGTCCAGGCTTACGTGTGAGTTTTAAATAAACCATTTCTTTTTCTTTCAGATTTCCACAAGACGGCACCCTATGTCGTCACTGGCAGCGTAGATCAAACAGTAAAAGTGTGGGAGTGCCGTTGATTGTGTCTCCTTCGGCCCCTCCTCCCTCTTTTCCTCTGGATGCACTCTGATGATACCATGGTTACCCCATTGAGCTCTGTTTAAATAAATATTGTCCTTTCATGTAAATTATTCTGGATGTAGATTGAGCTTATTAAATGTTACACACAAAGTATTCATGCATGGTGAATCCAAATTGTATACTGTAAATTTACATACGTTGTCTAGAAGTACCATAGGGTTTAAAAACCTGGGCTGGCATTGGTCACACCAGGCCTAAGAAGGCAGAAGTTGAATCAATTGAACTAGGGCACTAAACTGAATAGTTGACAGTGTCATTTTATGTTGGATTATTAATTCCTGTTTTTCTTTCTGCTATCTGTTGGTGCCTGACTTGATGGCCTCATTTGGGGAAAAGTGGTGGTTATTAGGGCTTTTTCTGAAATGTGTATCTATGTAACATCACTTAAGTGTGCTTAATAAATCTTCTGTAAGGATTTTAGATGATAAGGCTACAATTCAGAATCTTCTGAACCATCTATGTAATGAATGGGGATTATACATTGGAATTTTTGTCATGACACAT
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Task1_train_23203
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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?
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Pathogenic; Lissencephaly due to LIS1 mutation
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TGAATGCCTGTATATCCTTCACTTAGTTACCATTTGTTGGTTTTCCTTCATGTATGTGTGTATATTTTGCTGAAATCATTTGAGCGTTCTTTGCAGACATCGTAACACTTTACCCCCAAGTATTTTAGCATGAACCACCTAAGAACAAGGATAGTATATAAATAACCAAAATAAAATTATTCACACTCAAGAAATTTACCATTGATAGACTACATATTGAGATTTGTTCTTGTTATTTCCATAATGCCCTGCGGGACTTCTTTTTAACCCTCATCCAGGACCCAGTCAGGGATCGTACGTTATATTCACTCCTCATGTCTTATGAGTTTTCAGTTTCCTTTAATCTAGAATCCCCTAGACTTTTATTTTCTTCTGGTCTTTTGATGTTTTTGGTATGTATAGTTTTATCGTATTATGAAATAGATGCTATTTAAACATTTTGCCTTTTACTGAGTCAAATAACTTTTTTGTTTTTAAGGTGGGTCATGATAACTGGGTACGTGGAGTTCTGTTCCATTCTGGGGGGAAGTTTATTTTGAGTTGTGCTGATGACAAGACCCTACGCGTATGGGATTACAAGAACAAGCGATGCATGAAGACCCTCAATGCGCATGAACACTTTGTTACCTCCTTGGGTATGTACGCCTCGCGAGGTCTCTGAACATTAGATTTTGGAGTGCCAGACAAACTGTGTTTTACATAATCGTGTGGACTTTGCCAGGTAAGAAATGACTGTGCTTTCAGGGCAGAATAGAGAAGACATGAAAATCTTGTGGATTCCTACCATTTGTTTTAAATTCTCCTTTCCCGTTAACTCTTTCCATCGTTAGCCTTATAATAAAAACATTACTTTCTCCACTGCACAACATTGGTTTTGGAAACCACAATTTGTGAAGAGGTTACTTACCACTCTGATGGGTAATTTTTCTCCCCTATTAGTTTGTTTCTCAAACAAAATCTTCCTCAACCTTTCCCACTGGCAGGTGTATACTATCAGATACTAGAAACTCAGAAAATTGTATTTGATTTGAGTAAACATCCTCACTATCATCTGGACTTGAATCTGGAATTTAAGAGAGTGAATACAGTCAAGTATAATAAATGCACTAAAGTATAATGGACCAAAGCCTGCGTAAGGTGGGCTAATACCTGCCTCACAGGATTGGTTCAAGGATTAGGCACAAATACGGAGCATTTATGCCATGCCTGGAACATCGTGTTCAGTAAATGGATATGGCGAGACTGTGTATTGTTAGATTTGAGCCCTGCTGTGCCTTAGTCCCAGCTACTCAGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGGAGTTCTGGGTTACAGTGTGCTGTGCTGATGGGATGTTTGCACTAAGTGCAGCATCAATATGGTGACCTCCTGGGAACAGGAGACTCCCAGGTTGCCTAAGGAGGGGTGACCTGGCCCAGGTCAGAAACAGAGCAGGTCAAAACTCCCTTGCTGATCAGTAGTGGGATCGCACCTTTGAACAGCCACTGCACTCCAGCCTGGGCAACATAGTGAGACCCTGCCTTTGAAAAAAGAAGAAAAAGGATTTGAGCCCCATTTGGGATGGGCCAAAGAGGAACAGGCGTTTTTATTGAGATGTTAATACAGGATTTGATCATTGAGTCTCAACTTCCCTAACTGAATTGGCAAACTAGATACCTTCTTGGGTTATGGTATATTAGAGAAACACGAAAACTACTGGCATTTGGACTTTCTTAGAATTTTGTGGCTCATTAAAAATTGTATCTGGCTCAGTGTGATGGAGGGTTGGGACCGGGCAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAGTCATGGCTCGCTGCAGCCTCGACTTCCCAGCTCAAACAGTTCTGCATCAGTCTCCCGAGTAGCTGGGACTACAGGCACACACTACCATGCCCGGCTAATTTTTTTTTTAATTTTGTATTTTGTAGAGAGGGGGTCTCACTATGTTTGTTGTCCAGGCTTACGTGTGAGTTTTAAATAAACCATTTCTTTTTCTTTCAGATTTCCACAAGACGGCACCCTATGTCGTCACTGGCAGCGTAGATCAAACAGTAAAAGTGTGGGAGTGCCGTTGATTGTGTCTCCTTCGGCCCCTCCTCCCTCTTTTCCTCTGGATGCACTCTGATGATACCATGGTTACCCCATTGAGCTCTGTTTAAATAAATATTGTCCTTTCATGTAAATTATTCTGGATGTAGATTGAGCTTATTAAATGTTACACACAAAGTATTCATGCATGGTGAATCCAAATTGTATACTGTAAATTTACATACGTTGTCTAGAAGTACCATAGGGTTTAAAAACCTGGGCTGGCATTGGTCACACCAGGCCTAAGAAGGCAGAAGTTGAATCAATTGAACTAGGGCACTAAACTGAATAGTTGACAGTGTCATTTTATGTTGGATTATTAATTCCTGTTTTTCTTTCTGCTATCTGTTGGTGCCTGACTTGATGGCCTCATTTGGGGAAAAGTGGTGGTTATTAGGGCTTTTTCTGAAATGTGTATCTATGTAACATCACTTAAGTGTGCTTAATAAATCTTCTGTAAGGATTTTAGATGATAAGGCTACAATTCAGAATCTTCTGAACCATCTATGTAATGAATGGGGATTATACATTGGAATTTTTGTCATGACACATTTGCCAAATCAGTAGGATATATTTGTTTTGGCAGCCTATCACGCAGAGGCTAGTGGTATATTTATGTAAGAAAATGACTGTAAATCTCAAGAAAAATCTCAGCAGCTAATAGCAACTCATTTATTTCATTTTGGTCTTAATGCTTTGTAAACAGGTCAAAAAATACTGTCATACTCTAAGCTTCTATTTTCCACACTGGACATACTTCTAGTTGTATTCTCCATACTATTAGACTGTGTAGTGATGTGACTTCCAAGTAGAATTTAATCTCCCCATTGAGTGTGTCATGGTACAAATCACTATTCGTTTTTGGTGTTTTTTAGGGATGTGCAATGTGCATTACATAATGACAGAAATACTGAGAAGGTTCTGTGTGCCCATTTGAAAGGAGTGGGAGGAATACAGCAGTTTGTTTTTCAACATGAATCTGATATTGATTTAAACTGTGTTTCACTTACAAGTTTTAAAAAAATGACAGGGTTTAATGGAGCGTGCATAAAAATGTACTGTTTTCACCTTTTGTTTATATGTAAATGTTTGTAAGTATATGGGCCTATCTGTAAGTGGATAAGTCTGTATGTGTGTATCATACACATCAACCTCCATGTCCTTAGTCCTGGGTTTTTGAAAAAGTGCTAAAACGGACAAGTAGAATAAATGTTGCTGTGGAATGCCATGCTTTAGAACAAACCCTTTTTGATCTTAATGCTTCTGAAAACTAGGTCTGACTCTGGGGATTTTTTTCCAGCCGAAGGAAAATCACTTCCGTTATGTCCCCCTCTAATTTAGCCGCTCGACATTTTACACAACCCGGATATGTTGTATATTTTGACCCAAAGTTACAGGTAGGTTTAAGAGAATTTTTAGCCATGACTTTTGGAGCACTATTCCATTGTCAGTTATTAATAAAGAATTCCATTGCTTAGCTAACCAACAGGTTTTTTTTGTTTCCAAGAGAGTTATTTGAAAAGTTAACAGAACAATGAGATAACAGTGACAGTTTAACAAAGATAAAATTCTGAACTGCGTTTTATTCATTTGTGTACTATGTGATTTTTTAAATGTCCCCTTTAGTATTTAATGGAAAATTGGTTCCTGCAAAAGACAAAGGGTGAGAGTTAGCGTCCTGTAGATACACACAGAGACTAGGCCGTATATTAACTAGAAGCAGCTTTATGTCTAGCTTGTGTCTTTTTGTTTGTTTGCTTGTTTGTTTTTAGATTCCTGAGAGATGTCTCTGGAAGGGAAAGTTTTGAGAACTAATGGCTATTTTTGAGGACAAAAATTACATCTTAAGCTAATTCCTTAAATACATACAGTAGGTGAATTTTCAGGACAATATTGCCTCACAACCCTGCTTACATTGAAAAGTCTTTTTCCCTTAGCTCTTCTGACTGGATTTTTCTACAAAAAC
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TGAATGCCTGTATATCCTTCACTTAGTTACCATTTGTTGGTTTTCCTTCATGTATGTGTGTATATTTTGCTGAAATCATTTGAGCGTTCTTTGCAGACATCGTAACACTTTACCCCCAAGTATTTTAGCATGAACCACCTAAGAACAAGGATAGTATATAAATAACCAAAATAAAATTATTCACACTCAAGAAATTTACCATTGATAGACTACATATTGAGATTTGTTCTTGTTATTTCCATAATGCCCTGCGGGACTTCTTTTTAACCCTCATCCAGGACCCAGTCAGGGATCGTACGTTATATTCACTCCTCATGTCTTATGAGTTTTCAGTTTCCTTTAATCTAGAATCCCCTAGACTTTTATTTTCTTCTGGTCTTTTGATGTTTTTGGTATGTATAGTTTTATCGTATTATGAAATAGATGCTATTTAAACATTTTGCCTTTTACTGAGTCAAATAACTTTTTTGTTTTTAAGGTGGGTCATGATAACTGGGTACGTGGAGTTCTGTTCCATTCTGGGGGGAAGTTTATTTTGAGTTGTGCTGATGACAAGACCCTACGCGTATGGGATTACAAGAACAAGCGATGCATGAAGACCCTCAATGCGCATGAACACTTTGTTACCTCCTTGGGTATGTACGCCTCGCGAGGTCTCTGAACATTAGATTTTGGAGTGCCAGACAAACTGTGTTTTACATAATCGTGTGGACTTTGCCAGGTAAGAAATGACTGTGCTTTCAGGGCAGAATAGAGAAGACATGAAAATCTTGTGGATTCCTACCATTTGTTTTAAATTCTCCTTTCCCGTTAACTCTTTCCATCGTTAGCCTTATAATAAAAACATTACTTTCTCCACTGCACAACATTGGTTTTGGAAACCACAATTTGTGAAGAGGTTACTTACCACTCTGATGGGTAATTTTTCTCCCCTATTAGTTTGTTTCTCAAACAAAATCTTCCTCAACCTTTCCCACTGGCAGGTGTATACTATCAGATACTAGAAACTCAGAAAATTGTATTTGATTTGAGTAAACATCCTCACTATCATCTGGACTTGAATCTGGAATTTAAGAGAGTGAATACAGTCAAGTATAATAAATGCACTAAAGTATAATGGACCAAAGCCTGCGTAAGGTGGGCTAATACCTGCCTCACAGGATTGGTTCAAGGATTAGGCACAAATACGGAGCATTTATGCCATGCCTGGAACATCGTGTTCAGTAAATGGATATGGCGAGACTGTGTATTGTTAGATTTGAGCCCTGCTGTGCCTTAGTCCCAGCTACTCAGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGGAGTTCTGGGTTACAGTGTGCTGTGCTGATGGGATGTTTGCACTAAGTGCAGCATCAATATGGTGACCTCCTGGGAACAGGAGACTCCCAGGTTGCCTAAGGAGGGGTGACCTGGCCCAGGTCAGAAACAGAGCAGGTCAAAACTCCCTTGCTGATCAGTAGTGGGATCGCACCTTTGAACAGCCACTGCACTCCAGCCTGGGCAACATAGTGAGACCCTGCCTTTGAAAAAAGAAGAAAAAGGATTTGAGCCCCATTTGGGATGGGCCAAAGAGGAACAGGCGTTTTTATTGAGATGTTAATACAGGATTTGATCATTGAGTCTCAACTTCCCTAACTGAATTGGCAAACTAGATACCTTCTTGGGTTATGGTATATTAGAGAAACACGAAAACTACTGGCATTTGGACTTTCTTAGAATTTTGTGGCTCATTAAAAATTGTATCTGGCTCAGTGTGATGGAGGGTTGGGACCGGGCAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAGTCATGGCTCGCTGCAGCCTCGACTTCCCAGCTCAAACAGTTCTGCATCAGTCTCCCGAGTAGCTGGGACTACAGGCACACACTACCATGCCCGGCTAATTTTTTTTTTAATTTTGTATTTTGTAGAGAGGGGGTCTCACTATGTTTGTTGTCCAGGCTTACGTGTGAGTTTTAAATAAACCATTTCTTTTTCTTTCAGATTTCTACAAGACGGCACCCTATGTCGTCACTGGCAGCGTAGATCAAACAGTAAAAGTGTGGGAGTGCCGTTGATTGTGTCTCCTTCGGCCCCTCCTCCCTCTTTTCCTCTGGATGCACTCTGATGATACCATGGTTACCCCATTGAGCTCTGTTTAAATAAATATTGTCCTTTCATGTAAATTATTCTGGATGTAGATTGAGCTTATTAAATGTTACACACAAAGTATTCATGCATGGTGAATCCAAATTGTATACTGTAAATTTACATACGTTGTCTAGAAGTACCATAGGGTTTAAAAACCTGGGCTGGCATTGGTCACACCAGGCCTAAGAAGGCAGAAGTTGAATCAATTGAACTAGGGCACTAAACTGAATAGTTGACAGTGTCATTTTATGTTGGATTATTAATTCCTGTTTTTCTTTCTGCTATCTGTTGGTGCCTGACTTGATGGCCTCATTTGGGGAAAAGTGGTGGTTATTAGGGCTTTTTCTGAAATGTGTATCTATGTAACATCACTTAAGTGTGCTTAATAAATCTTCTGTAAGGATTTTAGATGATAAGGCTACAATTCAGAATCTTCTGAACCATCTATGTAATGAATGGGGATTATACATTGGAATTTTTGTCATGACACATTTGCCAAATCAGTAGGATATATTTGTTTTGGCAGCCTATCACGCAGAGGCTAGTGGTATATTTATGTAAGAAAATGACTGTAAATCTCAAGAAAAATCTCAGCAGCTAATAGCAACTCATTTATTTCATTTTGGTCTTAATGCTTTGTAAACAGGTCAAAAAATACTGTCATACTCTAAGCTTCTATTTTCCACACTGGACATACTTCTAGTTGTATTCTCCATACTATTAGACTGTGTAGTGATGTGACTTCCAAGTAGAATTTAATCTCCCCATTGAGTGTGTCATGGTACAAATCACTATTCGTTTTTGGTGTTTTTTAGGGATGTGCAATGTGCATTACATAATGACAGAAATACTGAGAAGGTTCTGTGTGCCCATTTGAAAGGAGTGGGAGGAATACAGCAGTTTGTTTTTCAACATGAATCTGATATTGATTTAAACTGTGTTTCACTTACAAGTTTTAAAAAAATGACAGGGTTTAATGGAGCGTGCATAAAAATGTACTGTTTTCACCTTTTGTTTATATGTAAATGTTTGTAAGTATATGGGCCTATCTGTAAGTGGATAAGTCTGTATGTGTGTATCATACACATCAACCTCCATGTCCTTAGTCCTGGGTTTTTGAAAAAGTGCTAAAACGGACAAGTAGAATAAATGTTGCTGTGGAATGCCATGCTTTAGAACAAACCCTTTTTGATCTTAATGCTTCTGAAAACTAGGTCTGACTCTGGGGATTTTTTTCCAGCCGAAGGAAAATCACTTCCGTTATGTCCCCCTCTAATTTAGCCGCTCGACATTTTACACAACCCGGATATGTTGTATATTTTGACCCAAAGTTACAGGTAGGTTTAAGAGAATTTTTAGCCATGACTTTTGGAGCACTATTCCATTGTCAGTTATTAATAAAGAATTCCATTGCTTAGCTAACCAACAGGTTTTTTTTGTTTCCAAGAGAGTTATTTGAAAAGTTAACAGAACAATGAGATAACAGTGACAGTTTAACAAAGATAAAATTCTGAACTGCGTTTTATTCATTTGTGTACTATGTGATTTTTTAAATGTCCCCTTTAGTATTTAATGGAAAATTGGTTCCTGCAAAAGACAAAGGGTGAGAGTTAGCGTCCTGTAGATACACACAGAGACTAGGCCGTATATTAACTAGAAGCAGCTTTATGTCTAGCTTGTGTCTTTTTGTTTGTTTGCTTGTTTGTTTTTAGATTCCTGAGAGATGTCTCTGGAAGGGAAAGTTTTGAGAACTAATGGCTATTTTTGAGGACAAAAATTACATCTTAAGCTAATTCCTTAAATACATACAGTAGGTGAATTTTCAGGACAATATTGCCTCACAACCCTGCTTACATTGAAAAGTCTTTTTCCCTTAGCTCTTCTGACTGGATTTTTCTACAAAAAC
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Task1_train_23204
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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.
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Pathogenic; Lissencephaly due to LIS1 mutation
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ATTTGTTGGTTTTCCTTCATGTATGTGTGTATATTTTGCTGAAATCATTTGAGCGTTCTTTGCAGACATCGTAACACTTTACCCCCAAGTATTTTAGCATGAACCACCTAAGAACAAGGATAGTATATAAATAACCAAAATAAAATTATTCACACTCAAGAAATTTACCATTGATAGACTACATATTGAGATTTGTTCTTGTTATTTCCATAATGCCCTGCGGGACTTCTTTTTAACCCTCATCCAGGACCCAGTCAGGGATCGTACGTTATATTCACTCCTCATGTCTTATGAGTTTTCAGTTTCCTTTAATCTAGAATCCCCTAGACTTTTATTTTCTTCTGGTCTTTTGATGTTTTTGGTATGTATAGTTTTATCGTATTATGAAATAGATGCTATTTAAACATTTTGCCTTTTACTGAGTCAAATAACTTTTTTGTTTTTAAGGTGGGTCATGATAACTGGGTACGTGGAGTTCTGTTCCATTCTGGGGGGAAGTTTATTTTGAGTTGTGCTGATGACAAGACCCTACGCGTATGGGATTACAAGAACAAGCGATGCATGAAGACCCTCAATGCGCATGAACACTTTGTTACCTCCTTGGGTATGTACGCCTCGCGAGGTCTCTGAACATTAGATTTTGGAGTGCCAGACAAACTGTGTTTTACATAATCGTGTGGACTTTGCCAGGTAAGAAATGACTGTGCTTTCAGGGCAGAATAGAGAAGACATGAAAATCTTGTGGATTCCTACCATTTGTTTTAAATTCTCCTTTCCCGTTAACTCTTTCCATCGTTAGCCTTATAATAAAAACATTACTTTCTCCACTGCACAACATTGGTTTTGGAAACCACAATTTGTGAAGAGGTTACTTACCACTCTGATGGGTAATTTTTCTCCCCTATTAGTTTGTTTCTCAAACAAAATCTTCCTCAACCTTTCCCACTGGCAGGTGTATACTATCAGATACTAGAAACTCAGAAAATTGTATTTGATTTGAGTAAACATCCTCACTATCATCTGGACTTGAATCTGGAATTTAAGAGAGTGAATACAGTCAAGTATAATAAATGCACTAAAGTATAATGGACCAAAGCCTGCGTAAGGTGGGCTAATACCTGCCTCACAGGATTGGTTCAAGGATTAGGCACAAATACGGAGCATTTATGCCATGCCTGGAACATCGTGTTCAGTAAATGGATATGGCGAGACTGTGTATTGTTAGATTTGAGCCCTGCTGTGCCTTAGTCCCAGCTACTCAGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGGAGTTCTGGGTTACAGTGTGCTGTGCTGATGGGATGTTTGCACTAAGTGCAGCATCAATATGGTGACCTCCTGGGAACAGGAGACTCCCAGGTTGCCTAAGGAGGGGTGACCTGGCCCAGGTCAGAAACAGAGCAGGTCAAAACTCCCTTGCTGATCAGTAGTGGGATCGCACCTTTGAACAGCCACTGCACTCCAGCCTGGGCAACATAGTGAGACCCTGCCTTTGAAAAAAGAAGAAAAAGGATTTGAGCCCCATTTGGGATGGGCCAAAGAGGAACAGGCGTTTTTATTGAGATGTTAATACAGGATTTGATCATTGAGTCTCAACTTCCCTAACTGAATTGGCAAACTAGATACCTTCTTGGGTTATGGTATATTAGAGAAACACGAAAACTACTGGCATTTGGACTTTCTTAGAATTTTGTGGCTCATTAAAAATTGTATCTGGCTCAGTGTGATGGAGGGTTGGGACCGGGCAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAGTCATGGCTCGCTGCAGCCTCGACTTCCCAGCTCAAACAGTTCTGCATCAGTCTCCCGAGTAGCTGGGACTACAGGCACACACTACCATGCCCGGCTAATTTTTTTTTTAATTTTGTATTTTGTAGAGAGGGGGTCTCACTATGTTTGTTGTCCAGGCTTACGTGTGAGTTTTAAATAAACCATTTCTTTTTCTTTCAGATTTCCACAAGACGGCACCCTATGTCGTCACTGGCAGCGTAGATCAAACAGTAAAAGTGTGGGAGTGCCGTTGATTGTGTCTCCTTCGGCCCCTCCTCCCTCTTTTCCTCTGGATGCACTCTGATGATACCATGGTTACCCCATTGAGCTCTGTTTAAATAAATATTGTCCTTTCATGTAAATTATTCTGGATGTAGATTGAGCTTATTAAATGTTACACACAAAGTATTCATGCATGGTGAATCCAAATTGTATACTGTAAATTTACATACGTTGTCTAGAAGTACCATAGGGTTTAAAAACCTGGGCTGGCATTGGTCACACCAGGCCTAAGAAGGCAGAAGTTGAATCAATTGAACTAGGGCACTAAACTGAATAGTTGACAGTGTCATTTTATGTTGGATTATTAATTCCTGTTTTTCTTTCTGCTATCTGTTGGTGCCTGACTTGATGGCCTCATTTGGGGAAAAGTGGTGGTTATTAGGGCTTTTTCTGAAATGTGTATCTATGTAACATCACTTAAGTGTGCTTAATAAATCTTCTGTAAGGATTTTAGATGATAAGGCTACAATTCAGAATCTTCTGAACCATCTATGTAATGAATGGGGATTATACATTGGAATTTTTGTCATGACACATTTGCCAAATCAGTAGGATATATTTGTTTTGGCAGCCTATCACGCAGAGGCTAGTGGTATATTTATGTAAGAAAATGACTGTAAATCTCAAGAAAAATCTCAGCAGCTAATAGCAACTCATTTATTTCATTTTGGTCTTAATGCTTTGTAAACAGGTCAAAAAATACTGTCATACTCTAAGCTTCTATTTTCCACACTGGACATACTTCTAGTTGTATTCTCCATACTATTAGACTGTGTAGTGATGTGACTTCCAAGTAGAATTTAATCTCCCCATTGAGTGTGTCATGGTACAAATCACTATTCGTTTTTGGTGTTTTTTAGGGATGTGCAATGTGCATTACATAATGACAGAAATACTGAGAAGGTTCTGTGTGCCCATTTGAAAGGAGTGGGAGGAATACAGCAGTTTGTTTTTCAACATGAATCTGATATTGATTTAAACTGTGTTTCACTTACAAGTTTTAAAAAAATGACAGGGTTTAATGGAGCGTGCATAAAAATGTACTGTTTTCACCTTTTGTTTATATGTAAATGTTTGTAAGTATATGGGCCTATCTGTAAGTGGATAAGTCTGTATGTGTGTATCATACACATCAACCTCCATGTCCTTAGTCCTGGGTTTTTGAAAAAGTGCTAAAACGGACAAGTAGAATAAATGTTGCTGTGGAATGCCATGCTTTAGAACAAACCCTTTTTGATCTTAATGCTTCTGAAAACTAGGTCTGACTCTGGGGATTTTTTTCCAGCCGAAGGAAAATCACTTCCGTTATGTCCCCCTCTAATTTAGCCGCTCGACATTTTACACAACCCGGATATGTTGTATATTTTGACCCAAAGTTACAGGTAGGTTTAAGAGAATTTTTAGCCATGACTTTTGGAGCACTATTCCATTGTCAGTTATTAATAAAGAATTCCATTGCTTAGCTAACCAACAGGTTTTTTTTGTTTCCAAGAGAGTTATTTGAAAAGTTAACAGAACAATGAGATAACAGTGACAGTTTAACAAAGATAAAATTCTGAACTGCGTTTTATTCATTTGTGTACTATGTGATTTTTTAAATGTCCCCTTTAGTATTTAATGGAAAATTGGTTCCTGCAAAAGACAAAGGGTGAGAGTTAGCGTCCTGTAGATACACACAGAGACTAGGCCGTATATTAACTAGAAGCAGCTTTATGTCTAGCTTGTGTCTTTTTGTTTGTTTGCTTGTTTGTTTTTAGATTCCTGAGAGATGTCTCTGGAAGGGAAAGTTTTGAGAACTAATGGCTATTTTTGAGGACAAAAATTACATCTTAAGCTAATTCCTTAAATACATACAGTAGGTGAATTTTCAGGACAATATTGCCTCACAACCCTGCTTACATTGAAAAGTCTTTTTCCCTTAGCTCTTCTGACTGGATTTTTCTACAAAAACTATGGAAAATATCTTTGTTCTTGTTTGCTGC
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ATTTGTTGGTTTTCCTTCATGTATGTGTGTATATTTTGCTGAAATCATTTGAGCGTTCTTTGCAGACATCGTAACACTTTACCCCCAAGTATTTTAGCATGAACCACCTAAGAACAAGGATAGTATATAAATAACCAAAATAAAATTATTCACACTCAAGAAATTTACCATTGATAGACTACATATTGAGATTTGTTCTTGTTATTTCCATAATGCCCTGCGGGACTTCTTTTTAACCCTCATCCAGGACCCAGTCAGGGATCGTACGTTATATTCACTCCTCATGTCTTATGAGTTTTCAGTTTCCTTTAATCTAGAATCCCCTAGACTTTTATTTTCTTCTGGTCTTTTGATGTTTTTGGTATGTATAGTTTTATCGTATTATGAAATAGATGCTATTTAAACATTTTGCCTTTTACTGAGTCAAATAACTTTTTTGTTTTTAAGGTGGGTCATGATAACTGGGTACGTGGAGTTCTGTTCCATTCTGGGGGGAAGTTTATTTTGAGTTGTGCTGATGACAAGACCCTACGCGTATGGGATTACAAGAACAAGCGATGCATGAAGACCCTCAATGCGCATGAACACTTTGTTACCTCCTTGGGTATGTACGCCTCGCGAGGTCTCTGAACATTAGATTTTGGAGTGCCAGACAAACTGTGTTTTACATAATCGTGTGGACTTTGCCAGGTAAGAAATGACTGTGCTTTCAGGGCAGAATAGAGAAGACATGAAAATCTTGTGGATTCCTACCATTTGTTTTAAATTCTCCTTTCCCGTTAACTCTTTCCATCGTTAGCCTTATAATAAAAACATTACTTTCTCCACTGCACAACATTGGTTTTGGAAACCACAATTTGTGAAGAGGTTACTTACCACTCTGATGGGTAATTTTTCTCCCCTATTAGTTTGTTTCTCAAACAAAATCTTCCTCAACCTTTCCCACTGGCAGGTGTATACTATCAGATACTAGAAACTCAGAAAATTGTATTTGATTTGAGTAAACATCCTCACTATCATCTGGACTTGAATCTGGAATTTAAGAGAGTGAATACAGTCAAGTATAATAAATGCACTAAAGTATAATGGACCAAAGCCTGCGTAAGGTGGGCTAATACCTGCCTCACAGGATTGGTTCAAGGATTAGGCACAAATACGGAGCATTTATGCCATGCCTGGAACATCGTGTTCAGTAAATGGATATGGCGAGACTGTGTATTGTTAGATTTGAGCCCTGCTGTGCCTTAGTCCCAGCTACTCAGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGGAGTTCTGGGTTACAGTGTGCTGTGCTGATGGGATGTTTGCACTAAGTGCAGCATCAATATGGTGACCTCCTGGGAACAGGAGACTCCCAGGTTGCCTAAGGAGGGGTGACCTGGCCCAGGTCAGAAACAGAGCAGGTCAAAACTCCCTTGCTGATCAGTAGTGGGATCGCACCTTTGAACAGCCACTGCACTCCAGCCTGGGCAACATAGTGAGACCCTGCCTTTGAAAAAAGAAGAAAAAGGATTTGAGCCCCATTTGGGATGGGCCAAAGAGGAACAGGCGTTTTTATTGAGATGTTAATACAGGATTTGATCATTGAGTCTCAACTTCCCTAACTGAATTGGCAAACTAGATACCTTCTTGGGTTATGGTATATTAGAGAAACACGAAAACTACTGGCATTTGGACTTTCTTAGAATTTTGTGGCTCATTAAAAATTGTATCTGGCTCAGTGTGATGGAGGGTTGGGACCGGGCAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAGTCATGGCTCGCTGCAGCCTCGACTTCCCAGCTCAAACAGTTCTGCATCAGTCTCCCGAGTAGCTGGGACTACAGGCACACACTACCATGCCCGGCTAATTTTTTTTTTAATTTTGTATTTTGTAGAGAGGGGGTCTCACTATGTTTGTTGTCCAGGCTTACGTGTGAGTTTTAAATAAACCATTTCTTTTTCTTTCAGATTTCCACAAGACGGCACCCTATGTCGTCACTGGCACCGTAGATCAAACAGTAAAAGTGTGGGAGTGCCGTTGATTGTGTCTCCTTCGGCCCCTCCTCCCTCTTTTCCTCTGGATGCACTCTGATGATACCATGGTTACCCCATTGAGCTCTGTTTAAATAAATATTGTCCTTTCATGTAAATTATTCTGGATGTAGATTGAGCTTATTAAATGTTACACACAAAGTATTCATGCATGGTGAATCCAAATTGTATACTGTAAATTTACATACGTTGTCTAGAAGTACCATAGGGTTTAAAAACCTGGGCTGGCATTGGTCACACCAGGCCTAAGAAGGCAGAAGTTGAATCAATTGAACTAGGGCACTAAACTGAATAGTTGACAGTGTCATTTTATGTTGGATTATTAATTCCTGTTTTTCTTTCTGCTATCTGTTGGTGCCTGACTTGATGGCCTCATTTGGGGAAAAGTGGTGGTTATTAGGGCTTTTTCTGAAATGTGTATCTATGTAACATCACTTAAGTGTGCTTAATAAATCTTCTGTAAGGATTTTAGATGATAAGGCTACAATTCAGAATCTTCTGAACCATCTATGTAATGAATGGGGATTATACATTGGAATTTTTGTCATGACACATTTGCCAAATCAGTAGGATATATTTGTTTTGGCAGCCTATCACGCAGAGGCTAGTGGTATATTTATGTAAGAAAATGACTGTAAATCTCAAGAAAAATCTCAGCAGCTAATAGCAACTCATTTATTTCATTTTGGTCTTAATGCTTTGTAAACAGGTCAAAAAATACTGTCATACTCTAAGCTTCTATTTTCCACACTGGACATACTTCTAGTTGTATTCTCCATACTATTAGACTGTGTAGTGATGTGACTTCCAAGTAGAATTTAATCTCCCCATTGAGTGTGTCATGGTACAAATCACTATTCGTTTTTGGTGTTTTTTAGGGATGTGCAATGTGCATTACATAATGACAGAAATACTGAGAAGGTTCTGTGTGCCCATTTGAAAGGAGTGGGAGGAATACAGCAGTTTGTTTTTCAACATGAATCTGATATTGATTTAAACTGTGTTTCACTTACAAGTTTTAAAAAAATGACAGGGTTTAATGGAGCGTGCATAAAAATGTACTGTTTTCACCTTTTGTTTATATGTAAATGTTTGTAAGTATATGGGCCTATCTGTAAGTGGATAAGTCTGTATGTGTGTATCATACACATCAACCTCCATGTCCTTAGTCCTGGGTTTTTGAAAAAGTGCTAAAACGGACAAGTAGAATAAATGTTGCTGTGGAATGCCATGCTTTAGAACAAACCCTTTTTGATCTTAATGCTTCTGAAAACTAGGTCTGACTCTGGGGATTTTTTTCCAGCCGAAGGAAAATCACTTCCGTTATGTCCCCCTCTAATTTAGCCGCTCGACATTTTACACAACCCGGATATGTTGTATATTTTGACCCAAAGTTACAGGTAGGTTTAAGAGAATTTTTAGCCATGACTTTTGGAGCACTATTCCATTGTCAGTTATTAATAAAGAATTCCATTGCTTAGCTAACCAACAGGTTTTTTTTGTTTCCAAGAGAGTTATTTGAAAAGTTAACAGAACAATGAGATAACAGTGACAGTTTAACAAAGATAAAATTCTGAACTGCGTTTTATTCATTTGTGTACTATGTGATTTTTTAAATGTCCCCTTTAGTATTTAATGGAAAATTGGTTCCTGCAAAAGACAAAGGGTGAGAGTTAGCGTCCTGTAGATACACACAGAGACTAGGCCGTATATTAACTAGAAGCAGCTTTATGTCTAGCTTGTGTCTTTTTGTTTGTTTGCTTGTTTGTTTTTAGATTCCTGAGAGATGTCTCTGGAAGGGAAAGTTTTGAGAACTAATGGCTATTTTTGAGGACAAAAATTACATCTTAAGCTAATTCCTTAAATACATACAGTAGGTGAATTTTCAGGACAATATTGCCTCACAACCCTGCTTACATTGAAAAGTCTTTTTCCCTTAGCTCTTCTGACTGGATTTTTCTACAAAAACTATGGAAAATATCTTTGTTCTTGTTTGCTGC
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Task1_train_23205
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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?
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Pathogenic; Lissencephaly due to LIS1 mutation
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TTGGTTTTCCTTCATGTATGTGTGTATATTTTGCTGAAATCATTTGAGCGTTCTTTGCAGACATCGTAACACTTTACCCCCAAGTATTTTAGCATGAACCACCTAAGAACAAGGATAGTATATAAATAACCAAAATAAAATTATTCACACTCAAGAAATTTACCATTGATAGACTACATATTGAGATTTGTTCTTGTTATTTCCATAATGCCCTGCGGGACTTCTTTTTAACCCTCATCCAGGACCCAGTCAGGGATCGTACGTTATATTCACTCCTCATGTCTTATGAGTTTTCAGTTTCCTTTAATCTAGAATCCCCTAGACTTTTATTTTCTTCTGGTCTTTTGATGTTTTTGGTATGTATAGTTTTATCGTATTATGAAATAGATGCTATTTAAACATTTTGCCTTTTACTGAGTCAAATAACTTTTTTGTTTTTAAGGTGGGTCATGATAACTGGGTACGTGGAGTTCTGTTCCATTCTGGGGGGAAGTTTATTTTGAGTTGTGCTGATGACAAGACCCTACGCGTATGGGATTACAAGAACAAGCGATGCATGAAGACCCTCAATGCGCATGAACACTTTGTTACCTCCTTGGGTATGTACGCCTCGCGAGGTCTCTGAACATTAGATTTTGGAGTGCCAGACAAACTGTGTTTTACATAATCGTGTGGACTTTGCCAGGTAAGAAATGACTGTGCTTTCAGGGCAGAATAGAGAAGACATGAAAATCTTGTGGATTCCTACCATTTGTTTTAAATTCTCCTTTCCCGTTAACTCTTTCCATCGTTAGCCTTATAATAAAAACATTACTTTCTCCACTGCACAACATTGGTTTTGGAAACCACAATTTGTGAAGAGGTTACTTACCACTCTGATGGGTAATTTTTCTCCCCTATTAGTTTGTTTCTCAAACAAAATCTTCCTCAACCTTTCCCACTGGCAGGTGTATACTATCAGATACTAGAAACTCAGAAAATTGTATTTGATTTGAGTAAACATCCTCACTATCATCTGGACTTGAATCTGGAATTTAAGAGAGTGAATACAGTCAAGTATAATAAATGCACTAAAGTATAATGGACCAAAGCCTGCGTAAGGTGGGCTAATACCTGCCTCACAGGATTGGTTCAAGGATTAGGCACAAATACGGAGCATTTATGCCATGCCTGGAACATCGTGTTCAGTAAATGGATATGGCGAGACTGTGTATTGTTAGATTTGAGCCCTGCTGTGCCTTAGTCCCAGCTACTCAGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGGAGTTCTGGGTTACAGTGTGCTGTGCTGATGGGATGTTTGCACTAAGTGCAGCATCAATATGGTGACCTCCTGGGAACAGGAGACTCCCAGGTTGCCTAAGGAGGGGTGACCTGGCCCAGGTCAGAAACAGAGCAGGTCAAAACTCCCTTGCTGATCAGTAGTGGGATCGCACCTTTGAACAGCCACTGCACTCCAGCCTGGGCAACATAGTGAGACCCTGCCTTTGAAAAAAGAAGAAAAAGGATTTGAGCCCCATTTGGGATGGGCCAAAGAGGAACAGGCGTTTTTATTGAGATGTTAATACAGGATTTGATCATTGAGTCTCAACTTCCCTAACTGAATTGGCAAACTAGATACCTTCTTGGGTTATGGTATATTAGAGAAACACGAAAACTACTGGCATTTGGACTTTCTTAGAATTTTGTGGCTCATTAAAAATTGTATCTGGCTCAGTGTGATGGAGGGTTGGGACCGGGCAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAGTCATGGCTCGCTGCAGCCTCGACTTCCCAGCTCAAACAGTTCTGCATCAGTCTCCCGAGTAGCTGGGACTACAGGCACACACTACCATGCCCGGCTAATTTTTTTTTTAATTTTGTATTTTGTAGAGAGGGGGTCTCACTATGTTTGTTGTCCAGGCTTACGTGTGAGTTTTAAATAAACCATTTCTTTTTCTTTCAGATTTCCACAAGACGGCACCCTATGTCGTCACTGGCAGCGTAGATCAAACAGTAAAAGTGTGGGAGTGCCGTTGATTGTGTCTCCTTCGGCCCCTCCTCCCTCTTTTCCTCTGGATGCACTCTGATGATACCATGGTTACCCCATTGAGCTCTGTTTAAATAAATATTGTCCTTTCATGTAAATTATTCTGGATGTAGATTGAGCTTATTAAATGTTACACACAAAGTATTCATGCATGGTGAATCCAAATTGTATACTGTAAATTTACATACGTTGTCTAGAAGTACCATAGGGTTTAAAAACCTGGGCTGGCATTGGTCACACCAGGCCTAAGAAGGCAGAAGTTGAATCAATTGAACTAGGGCACTAAACTGAATAGTTGACAGTGTCATTTTATGTTGGATTATTAATTCCTGTTTTTCTTTCTGCTATCTGTTGGTGCCTGACTTGATGGCCTCATTTGGGGAAAAGTGGTGGTTATTAGGGCTTTTTCTGAAATGTGTATCTATGTAACATCACTTAAGTGTGCTTAATAAATCTTCTGTAAGGATTTTAGATGATAAGGCTACAATTCAGAATCTTCTGAACCATCTATGTAATGAATGGGGATTATACATTGGAATTTTTGTCATGACACATTTGCCAAATCAGTAGGATATATTTGTTTTGGCAGCCTATCACGCAGAGGCTAGTGGTATATTTATGTAAGAAAATGACTGTAAATCTCAAGAAAAATCTCAGCAGCTAATAGCAACTCATTTATTTCATTTTGGTCTTAATGCTTTGTAAACAGGTCAAAAAATACTGTCATACTCTAAGCTTCTATTTTCCACACTGGACATACTTCTAGTTGTATTCTCCATACTATTAGACTGTGTAGTGATGTGACTTCCAAGTAGAATTTAATCTCCCCATTGAGTGTGTCATGGTACAAATCACTATTCGTTTTTGGTGTTTTTTAGGGATGTGCAATGTGCATTACATAATGACAGAAATACTGAGAAGGTTCTGTGTGCCCATTTGAAAGGAGTGGGAGGAATACAGCAGTTTGTTTTTCAACATGAATCTGATATTGATTTAAACTGTGTTTCACTTACAAGTTTTAAAAAAATGACAGGGTTTAATGGAGCGTGCATAAAAATGTACTGTTTTCACCTTTTGTTTATATGTAAATGTTTGTAAGTATATGGGCCTATCTGTAAGTGGATAAGTCTGTATGTGTGTATCATACACATCAACCTCCATGTCCTTAGTCCTGGGTTTTTGAAAAAGTGCTAAAACGGACAAGTAGAATAAATGTTGCTGTGGAATGCCATGCTTTAGAACAAACCCTTTTTGATCTTAATGCTTCTGAAAACTAGGTCTGACTCTGGGGATTTTTTTCCAGCCGAAGGAAAATCACTTCCGTTATGTCCCCCTCTAATTTAGCCGCTCGACATTTTACACAACCCGGATATGTTGTATATTTTGACCCAAAGTTACAGGTAGGTTTAAGAGAATTTTTAGCCATGACTTTTGGAGCACTATTCCATTGTCAGTTATTAATAAAGAATTCCATTGCTTAGCTAACCAACAGGTTTTTTTTGTTTCCAAGAGAGTTATTTGAAAAGTTAACAGAACAATGAGATAACAGTGACAGTTTAACAAAGATAAAATTCTGAACTGCGTTTTATTCATTTGTGTACTATGTGATTTTTTAAATGTCCCCTTTAGTATTTAATGGAAAATTGGTTCCTGCAAAAGACAAAGGGTGAGAGTTAGCGTCCTGTAGATACACACAGAGACTAGGCCGTATATTAACTAGAAGCAGCTTTATGTCTAGCTTGTGTCTTTTTGTTTGTTTGCTTGTTTGTTTTTAGATTCCTGAGAGATGTCTCTGGAAGGGAAAGTTTTGAGAACTAATGGCTATTTTTGAGGACAAAAATTACATCTTAAGCTAATTCCTTAAATACATACAGTAGGTGAATTTTCAGGACAATATTGCCTCACAACCCTGCTTACATTGAAAAGTCTTTTTCCCTTAGCTCTTCTGACTGGATTTTTCTACAAAAACTATGGAAAATATCTTTGTTCTTGTTTGCTGCTATTT
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TTGGTTTTCCTTCATGTATGTGTGTATATTTTGCTGAAATCATTTGAGCGTTCTTTGCAGACATCGTAACACTTTACCCCCAAGTATTTTAGCATGAACCACCTAAGAACAAGGATAGTATATAAATAACCAAAATAAAATTATTCACACTCAAGAAATTTACCATTGATAGACTACATATTGAGATTTGTTCTTGTTATTTCCATAATGCCCTGCGGGACTTCTTTTTAACCCTCATCCAGGACCCAGTCAGGGATCGTACGTTATATTCACTCCTCATGTCTTATGAGTTTTCAGTTTCCTTTAATCTAGAATCCCCTAGACTTTTATTTTCTTCTGGTCTTTTGATGTTTTTGGTATGTATAGTTTTATCGTATTATGAAATAGATGCTATTTAAACATTTTGCCTTTTACTGAGTCAAATAACTTTTTTGTTTTTAAGGTGGGTCATGATAACTGGGTACGTGGAGTTCTGTTCCATTCTGGGGGGAAGTTTATTTTGAGTTGTGCTGATGACAAGACCCTACGCGTATGGGATTACAAGAACAAGCGATGCATGAAGACCCTCAATGCGCATGAACACTTTGTTACCTCCTTGGGTATGTACGCCTCGCGAGGTCTCTGAACATTAGATTTTGGAGTGCCAGACAAACTGTGTTTTACATAATCGTGTGGACTTTGCCAGGTAAGAAATGACTGTGCTTTCAGGGCAGAATAGAGAAGACATGAAAATCTTGTGGATTCCTACCATTTGTTTTAAATTCTCCTTTCCCGTTAACTCTTTCCATCGTTAGCCTTATAATAAAAACATTACTTTCTCCACTGCACAACATTGGTTTTGGAAACCACAATTTGTGAAGAGGTTACTTACCACTCTGATGGGTAATTTTTCTCCCCTATTAGTTTGTTTCTCAAACAAAATCTTCCTCAACCTTTCCCACTGGCAGGTGTATACTATCAGATACTAGAAACTCAGAAAATTGTATTTGATTTGAGTAAACATCCTCACTATCATCTGGACTTGAATCTGGAATTTAAGAGAGTGAATACAGTCAAGTATAATAAATGCACTAAAGTATAATGGACCAAAGCCTGCGTAAGGTGGGCTAATACCTGCCTCACAGGATTGGTTCAAGGATTAGGCACAAATACGGAGCATTTATGCCATGCCTGGAACATCGTGTTCAGTAAATGGATATGGCGAGACTGTGTATTGTTAGATTTGAGCCCTGCTGTGCCTTAGTCCCAGCTACTCAGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGGAGTTCTGGGTTACAGTGTGCTGTGCTGATGGGATGTTTGCACTAAGTGCAGCATCAATATGGTGACCTCCTGGGAACAGGAGACTCCCAGGTTGCCTAAGGAGGGGTGACCTGGCCCAGGTCAGAAACAGAGCAGGTCAAAACTCCCTTGCTGATCAGTAGTGGGATCGCACCTTTGAACAGCCACTGCACTCCAGCCTGGGCAACATAGTGAGACCCTGCCTTTGAAAAAAGAAGAAAAAGGATTTGAGCCCCATTTGGGATGGGCCAAAGAGGAACAGGCGTTTTTATTGAGATGTTAATACAGGATTTGATCATTGAGTCTCAACTTCCCTAACTGAATTGGCAAACTAGATACCTTCTTGGGTTATGGTATATTAGAGAAACACGAAAACTACTGGCATTTGGACTTTCTTAGAATTTTGTGGCTCATTAAAAATTGTATCTGGCTCAGTGTGATGGAGGGTTGGGACCGGGCAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAGTCATGGCTCGCTGCAGCCTCGACTTCCCAGCTCAAACAGTTCTGCATCAGTCTCCCGAGTAGCTGGGACTACAGGCACACACTACCATGCCCGGCTAATTTTTTTTTTAATTTTGTATTTTGTAGAGAGGGGGTCTCACTATGTTTGTTGTCCAGGCTTACGTGTGAGTTTTAAATAAACCATTTCTTTTTCTTTCAGATTTCCACAAGACGGCACCCTATGTCGTCACTGGCAGCGTACATCAAACAGTAAAAGTGTGGGAGTGCCGTTGATTGTGTCTCCTTCGGCCCCTCCTCCCTCTTTTCCTCTGGATGCACTCTGATGATACCATGGTTACCCCATTGAGCTCTGTTTAAATAAATATTGTCCTTTCATGTAAATTATTCTGGATGTAGATTGAGCTTATTAAATGTTACACACAAAGTATTCATGCATGGTGAATCCAAATTGTATACTGTAAATTTACATACGTTGTCTAGAAGTACCATAGGGTTTAAAAACCTGGGCTGGCATTGGTCACACCAGGCCTAAGAAGGCAGAAGTTGAATCAATTGAACTAGGGCACTAAACTGAATAGTTGACAGTGTCATTTTATGTTGGATTATTAATTCCTGTTTTTCTTTCTGCTATCTGTTGGTGCCTGACTTGATGGCCTCATTTGGGGAAAAGTGGTGGTTATTAGGGCTTTTTCTGAAATGTGTATCTATGTAACATCACTTAAGTGTGCTTAATAAATCTTCTGTAAGGATTTTAGATGATAAGGCTACAATTCAGAATCTTCTGAACCATCTATGTAATGAATGGGGATTATACATTGGAATTTTTGTCATGACACATTTGCCAAATCAGTAGGATATATTTGTTTTGGCAGCCTATCACGCAGAGGCTAGTGGTATATTTATGTAAGAAAATGACTGTAAATCTCAAGAAAAATCTCAGCAGCTAATAGCAACTCATTTATTTCATTTTGGTCTTAATGCTTTGTAAACAGGTCAAAAAATACTGTCATACTCTAAGCTTCTATTTTCCACACTGGACATACTTCTAGTTGTATTCTCCATACTATTAGACTGTGTAGTGATGTGACTTCCAAGTAGAATTTAATCTCCCCATTGAGTGTGTCATGGTACAAATCACTATTCGTTTTTGGTGTTTTTTAGGGATGTGCAATGTGCATTACATAATGACAGAAATACTGAGAAGGTTCTGTGTGCCCATTTGAAAGGAGTGGGAGGAATACAGCAGTTTGTTTTTCAACATGAATCTGATATTGATTTAAACTGTGTTTCACTTACAAGTTTTAAAAAAATGACAGGGTTTAATGGAGCGTGCATAAAAATGTACTGTTTTCACCTTTTGTTTATATGTAAATGTTTGTAAGTATATGGGCCTATCTGTAAGTGGATAAGTCTGTATGTGTGTATCATACACATCAACCTCCATGTCCTTAGTCCTGGGTTTTTGAAAAAGTGCTAAAACGGACAAGTAGAATAAATGTTGCTGTGGAATGCCATGCTTTAGAACAAACCCTTTTTGATCTTAATGCTTCTGAAAACTAGGTCTGACTCTGGGGATTTTTTTCCAGCCGAAGGAAAATCACTTCCGTTATGTCCCCCTCTAATTTAGCCGCTCGACATTTTACACAACCCGGATATGTTGTATATTTTGACCCAAAGTTACAGGTAGGTTTAAGAGAATTTTTAGCCATGACTTTTGGAGCACTATTCCATTGTCAGTTATTAATAAAGAATTCCATTGCTTAGCTAACCAACAGGTTTTTTTTGTTTCCAAGAGAGTTATTTGAAAAGTTAACAGAACAATGAGATAACAGTGACAGTTTAACAAAGATAAAATTCTGAACTGCGTTTTATTCATTTGTGTACTATGTGATTTTTTAAATGTCCCCTTTAGTATTTAATGGAAAATTGGTTCCTGCAAAAGACAAAGGGTGAGAGTTAGCGTCCTGTAGATACACACAGAGACTAGGCCGTATATTAACTAGAAGCAGCTTTATGTCTAGCTTGTGTCTTTTTGTTTGTTTGCTTGTTTGTTTTTAGATTCCTGAGAGATGTCTCTGGAAGGGAAAGTTTTGAGAACTAATGGCTATTTTTGAGGACAAAAATTACATCTTAAGCTAATTCCTTAAATACATACAGTAGGTGAATTTTCAGGACAATATTGCCTCACAACCCTGCTTACATTGAAAAGTCTTTTTCCCTTAGCTCTTCTGACTGGATTTTTCTACAAAAACTATGGAAAATATCTTTGTTCTTGTTTGCTGCTATTT
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Task1_train_23206
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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?
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Pathogenic; Spongy degeneration of central nervous system
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TGGGAAATAATTGCTGCAATTCATTAACTCTCAAAAAAGTTATTCATTTTGACATGTAAGAGAAACTTTATTTATGAATGTGAAATGTGCTTCAAAGTGCTGATCTGTTAAAATTCCATAAAACAAGCTTCAAAATGCAAGTCATTTGTGCCAGCTACGAGTAAATAACTGAAGCAGCATTTCCAGAGAGACTAGGGCAAAGGACAGAACAAACTACAAATCAGCAGAAAAGAAACCAAGCATAGTAGAGTGTTAATAATTCACCATGGTTACTGCTCTTAAAACCAAAGCAACTAAACAACTGTCATCTGTTTACTTTTACGTGTGTTTTCATCATCTCTACACCGTCTGAAGTGTTCAGTGTACATGGATGTGGACAGACAGTCAAAGCCTACAGGAGCTTTTTTTTTCTATTAGAACAGTCATTTTAATGCATAGATTTGATGTGGTTATTTTGCTTTCTCTATCTCTGCATTATAAGCTCTTAAAGGAAGAACATTCAGTGGGTTTATTAAATATTAGGAAGCATTCATATTTTATTTTTCCACCATGTATTTGGTTTGTATGCATGTTTGTTTCCTGAGCACACTGTAATGGCTGTTTATGTGAATTCTGAAAGAGCAAAACTAGAACTGTGAAGAAGACCAAAAATAACAGAGAGGCACCCTATTGTCCTGTGAAAAACACTAGACTTGGGATGAGAAACATGGGTCTCAGGCCTAGGTTCTCCTACATCCCTGCAGAACCTTAACTGAGTTACTTAACCTCTCTTTCGTTTACCCCTGCAGTGGGGATGTCAACACCTAACCCACCCTATCGTATAAAATTAATGTATGAATAAACTGAGTGAAAGGACATTATAAATTAAACTCTGCAATTGTAATAAATTACTCTTATTGTACCCTCTATCAAACAACCTGGCGTTACTAGTACATGGTATTCCCAGTACTTGAACATATGTGACTTTCTGGGTGACTGAGCATGAAATCAAATCAGATTTGGCTCAGAGTCATTTCTCCAAAGGGATGTAATCATCTTAGTATTCTGGAAAATTTCCCCTAATAAGACCCCTTTTTGAGTAACACAGTCCAGTGGAGAGTCCCCGCTGACAGTGAATAAGGCTGTGTCTATGTAAGTTCACATGATGTGGTTAGCACATGCAGTGTGTCCCAAGACATTTTCAGGCATCACAAAAACTTGAAAAGTACTAACAGTTGTCTTTCCTTTGGTATTTAGGCAAAAAATGAGGAAGATTCATAAGTAAGTTAACACAGAATTACCAAAAACCTCATGAGAAAGAAATGAAGGGATGTTTCAGGGTAGCTTTTCGAGTCCCAAGTGATCATTGATTTGGCCCTTCTGTTTCTGATTGTGAAAAAGCATTCTGAAAGAATGGGCGCCGGTTCAAGAGGAGGTCTCTGAGGGTCAGCCTTTGGCTGTTTATAGAGGTGAGATTCAAATGCCCTCAGATCATGAAAAGTGCTTGAACTCATTTCAGAGAAGAAATGTTTTGAAATGCCCGTGGAAATACTGAGTGGGCCACTTTTTTATTTTGTGAAATTAGAAACGTATAAACTATTTTTATTATTACAGATAATTGTGAAAGCCTCACTGGATGACATCCTAGCTGAGGAAAAGAATGGAATTTTTGTATTAGTATGAAATGCTAATTTATTACTGTATTTAGATCTACTGACCATCTGAGGGAGTTAGAAGTTAAAGTAAACAGCTGTATCTCTAGTTGATCTTTGCATATTTTAATCCAAATATGGCAAAGGGCAGGGCTAAAGAAGGGAGTGTCCATAAACGGGGCTCAGAACTTGTAACAGAAAATTAAAATATACTCCACTCAAGGGAATTCTGTACTTTGCCCTTTGGGTAAAGTCTCATTTACATTTCTAAACCTTTCTTAAGAAAATCGAATTTCCTTTGATCTCTCTTCTGAATTGCAGAAATCAGATAAAAACTACTTGGTGAAATGACTTCTTGTCACATTGCTGAAGAACATATACAAAAGGTTGCTATCTTTGGAGGAACCCATGGGAATGAGCTAACCGGAGTATTTCTGGTTAAGCATTGGCTAGAGAATGGCGCTGAGATTCAGAGAACAGGGCTGGAGGTAAAACCATTTATTACTAACCCCAGAGCAGTGAAGAAGTGTACCAGATATATTGACTGTGACCTGAATCGCATTTTTGACCTTGAAAATCTTGGGTAAGACTATGCTTTGTATTGTATATGTATGTATGTTGTGTGAAAAGTGGTAGGTGTGTGAAAGAGAACACATATATGTATATGCAGATGATAATTCATGTCCGTACATGCAGTCGTATGTTGAATAAGATCACTTTCACTTTTAATTATACTGCATTGTGAATTGCACAATTATCTAAACTGGGCATTCACATGCTCTTTTATAAACCTTCTTAAGCACCAGATTATTAAGTTTTCTTTTCAAATGTATACAGACTGAGACAATAAATAGAAAAGGGTTTTGTTTTAAAATCATACCTTTAAAGAAACAGATTTAATACTCCTTTGCATTGAGTTAGTGTTTGGCCACTATGCTTGCATATAAAATTGTTAGCTTTTTAGGAAATTCACTACGTTTTCAAGCAACTATGCTTACGGTAATGCATAAAGTTCTAGTTCAAAAAATGTAATGTTTCAAGTAATATTTGTTGAATGAAAGCGTGATTAAATATCTTTTGTCAGAAGACATCAGACACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGAGACAGAGCAAGACTCCGTCTCAAAAAAATAAATAAATAAATAAAAATAAAGACATCAGACCTCCCTGTGATCCGAAGTAGCAGACGTACTTAACTTCCATGGTGGATTGTTGTAGATGGGATACCAGAGATGAGAACTAAAGACACCATCTGAATTTTCAGAGCTTATATTTTGCTGATTTGTAATATATTGCATACAACGTAAGCAGTCATAACATGCTAGGTTAGGTCCTTATTAATTATTTTTGCCTTCGTTTACATCATAATAGCTACCACTGTGGATATAATATGACTCCACATATTTGCTTTTTACCACTTCTTTCTTTCTTTCTCTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGTCTGGAGTGCAATGGTGCAATCTCAGCTCACTGCAGCCTCCACCTCCGGGTTAAAGTGATTCTCCTGCCTCAACCTCCCGAGTAGCTGGGATTACAGGCACTTGCCACCATGTCCGGGTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCTGGGCCGCTTTTTTTCTTTTACTAAAAAATATTCTGAAACATCTGTTTTTCTCAGGAAACTGTGCCAGGTACTGGGGGAGTACACAGCTCTATACAACTTGGTTTCTACCCCTCAAGGAGTTGGTAGACTACTAGCTAAGATATAAGATACATGGCCGGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGCAGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTAAAACCCCGTCTCTACTAAAAAAAATACAAAAAATTAGCCGGGCATGGTGGCGGGCACCTGTAGTCCCAGCTATTCGGGAGACTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCAGAGATGGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATATATATATATATAAGATATGCACAGGCACAACTAGCCACTGTTCTATGTGCTTGTTTTCTGATCAACTCTAATTTGAGTTA
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TGGGAAATAATTGCTGCAATTCATTAACTCTCAAAAAAGTTATTCATTTTGACATGTAAGAGAAACTTTATTTATGAATGTGAAATGTGCTTCAAAGTGCTGATCTGTTAAAATTCCATAAAACAAGCTTCAAAATGCAAGTCATTTGTGCCAGCTACGAGTAAATAACTGAAGCAGCATTTCCAGAGAGACTAGGGCAAAGGACAGAACAAACTACAAATCAGCAGAAAAGAAACCAAGCATAGTAGAGTGTTAATAATTCACCATGGTTACTGCTCTTAAAACCAAAGCAACTAAACAACTGTCATCTGTTTACTTTTACGTGTGTTTTCATCATCTCTACACCGTCTGAAGTGTTCAGTGTACATGGATGTGGACAGACAGTCAAAGCCTACAGGAGCTTTTTTTTTCTATTAGAACAGTCATTTTAATGCATAGATTTGATGTGGTTATTTTGCTTTCTCTATCTCTGCATTATAAGCTCTTAAAGGAAGAACATTCAGTGGGTTTATTAAATATTAGGAAGCATTCATATTTTATTTTTCCACCATGTATTTGGTTTGTATGCATGTTTGTTTCCTGAGCACACTGTAATGGCTGTTTATGTGAATTCTGAAAGAGCAAAACTAGAACTGTGAAGAAGACCAAAAATAACAGAGAGGCACCCTATTGTCCTGTGAAAAACACTAGACTTGGGATGAGAAACATGGGTCTCAGGCCTAGGTTCTCCTACATCCCTGCAGAACCTTAACTGAGTTACTTAACCTCTCTTTCGTTTACCCCTGCAGTGGGGATGTCAACACCTAACCCACCCTATCGTATAAAATTAATGTATGAATAAACTGAGTGAAAGGACATTATAAATTAAACTCTGCAATTGTAATAAATTACTCTTATTGTACCCTCTATCAAACAACCTGGCGTTACTAGTACATGGTATTCCCAGTACTTGAACATATGTGACTTTCTGGGTGACTGAGCATGAAATCAAATCAGATTTGGCTCAGAGTCATTTCTCCAAAGGGATGTAATCATCTTAGTATTCTGGAAAATTTCCCCTAATAAGACCCCTTTTTGAGTAACACAGTCCAGTGGAGAGTCCCCGCTGACAGTGAATAAGGCTGTGTCTATGTAAGTTCACATGATGTGGTTAGCACATGCAGTGTGTCCCAAGACATTTTCAGGCATCACAAAAACTTGAAAAGTACTAACAGTTGTCTTTCCTTTGGTATTTAGGCAAAAAATGAGGAAGATTCATAAGTAAGTTAACACAGAATTACCAAAAACCTCATGAGAAAGAAATGAAGGGATGTTTCAGGGTAGCTTTTCGAGTCCCAAGTGATCATTGATTTGGCCCTTCTGTTTCTGATTGTGAAAAAGCATTCTGAAAGAATGGGCGCCGGTTCAAGAGGAGGTCTCTGAGGGTCAGCCTTTGGCTGTTTATAGAGGTGAGATTCAAATGCCCTCAGATCATGAAAAGTGCTTGAACTCATTTCAGAGAAGAAATGTTTTGAAATGCCCGTGGAAATACTGAGTGGGCCACTTTTTTATTTTGTGAAATTAGAAACGTATAAACTATTTTTATTATTACAGATAATTGTGAAAGCCTCACTGGATGACATCCTAGCTGAGGAAAAGAATGGAATTTTTGTATTAGTATGAAATGCTAATTTATTACTGTATTTAGATCTACTGACCATCTGAGGGAGTTAGAAGTTAAAGTAAACAGCTGTATCTCTAGTTGATCTTTGCATATTTTAATCCAAATATGGCAAAGGGCAGGGCTAAAGAAGGGAGTGTCCATAAACGGGGCTCAGAACTTGTAACAGAAAATTAAAATATACTCCACTCAAGGGAATTCTGTACTTTGCCCTTTGGGTAAAGTCTCATTTACATTTCTAAACCTTTCTTAAGAAAATCGAATTTCCTTTGATCTCTCTTCTGAATTGCAGAAATCAGATAAAAACTACTTGGTGAAATGACTTCTTGTCACATTGCTGAAGAACATATACAAAAGGTTGCTATCTTTGGAGGAACCCATGGGAATGGGCTAACCGGAGTATTTCTGGTTAAGCATTGGCTAGAGAATGGCGCTGAGATTCAGAGAACAGGGCTGGAGGTAAAACCATTTATTACTAACCCCAGAGCAGTGAAGAAGTGTACCAGATATATTGACTGTGACCTGAATCGCATTTTTGACCTTGAAAATCTTGGGTAAGACTATGCTTTGTATTGTATATGTATGTATGTTGTGTGAAAAGTGGTAGGTGTGTGAAAGAGAACACATATATGTATATGCAGATGATAATTCATGTCCGTACATGCAGTCGTATGTTGAATAAGATCACTTTCACTTTTAATTATACTGCATTGTGAATTGCACAATTATCTAAACTGGGCATTCACATGCTCTTTTATAAACCTTCTTAAGCACCAGATTATTAAGTTTTCTTTTCAAATGTATACAGACTGAGACAATAAATAGAAAAGGGTTTTGTTTTAAAATCATACCTTTAAAGAAACAGATTTAATACTCCTTTGCATTGAGTTAGTGTTTGGCCACTATGCTTGCATATAAAATTGTTAGCTTTTTAGGAAATTCACTACGTTTTCAAGCAACTATGCTTACGGTAATGCATAAAGTTCTAGTTCAAAAAATGTAATGTTTCAAGTAATATTTGTTGAATGAAAGCGTGATTAAATATCTTTTGTCAGAAGACATCAGACACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGAGACAGAGCAAGACTCCGTCTCAAAAAAATAAATAAATAAATAAAAATAAAGACATCAGACCTCCCTGTGATCCGAAGTAGCAGACGTACTTAACTTCCATGGTGGATTGTTGTAGATGGGATACCAGAGATGAGAACTAAAGACACCATCTGAATTTTCAGAGCTTATATTTTGCTGATTTGTAATATATTGCATACAACGTAAGCAGTCATAACATGCTAGGTTAGGTCCTTATTAATTATTTTTGCCTTCGTTTACATCATAATAGCTACCACTGTGGATATAATATGACTCCACATATTTGCTTTTTACCACTTCTTTCTTTCTTTCTCTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGTCTGGAGTGCAATGGTGCAATCTCAGCTCACTGCAGCCTCCACCTCCGGGTTAAAGTGATTCTCCTGCCTCAACCTCCCGAGTAGCTGGGATTACAGGCACTTGCCACCATGTCCGGGTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCTGGGCCGCTTTTTTTCTTTTACTAAAAAATATTCTGAAACATCTGTTTTTCTCAGGAAACTGTGCCAGGTACTGGGGGAGTACACAGCTCTATACAACTTGGTTTCTACCCCTCAAGGAGTTGGTAGACTACTAGCTAAGATATAAGATACATGGCCGGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGCAGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTAAAACCCCGTCTCTACTAAAAAAAATACAAAAAATTAGCCGGGCATGGTGGCGGGCACCTGTAGTCCCAGCTATTCGGGAGACTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCAGAGATGGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATATATATATATATAAGATATGCACAGGCACAACTAGCCACTGTTCTATGTGCTTGTTTTCTGATCAACTCTAATTTGAGTTA
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Task1_train_23207
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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?
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Pathogenic; Inborn genetic diseases
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GTCATTTGTGCCAGCTACGAGTAAATAACTGAAGCAGCATTTCCAGAGAGACTAGGGCAAAGGACAGAACAAACTACAAATCAGCAGAAAAGAAACCAAGCATAGTAGAGTGTTAATAATTCACCATGGTTACTGCTCTTAAAACCAAAGCAACTAAACAACTGTCATCTGTTTACTTTTACGTGTGTTTTCATCATCTCTACACCGTCTGAAGTGTTCAGTGTACATGGATGTGGACAGACAGTCAAAGCCTACAGGAGCTTTTTTTTTCTATTAGAACAGTCATTTTAATGCATAGATTTGATGTGGTTATTTTGCTTTCTCTATCTCTGCATTATAAGCTCTTAAAGGAAGAACATTCAGTGGGTTTATTAAATATTAGGAAGCATTCATATTTTATTTTTCCACCATGTATTTGGTTTGTATGCATGTTTGTTTCCTGAGCACACTGTAATGGCTGTTTATGTGAATTCTGAAAGAGCAAAACTAGAACTGTGAAGAAGACCAAAAATAACAGAGAGGCACCCTATTGTCCTGTGAAAAACACTAGACTTGGGATGAGAAACATGGGTCTCAGGCCTAGGTTCTCCTACATCCCTGCAGAACCTTAACTGAGTTACTTAACCTCTCTTTCGTTTACCCCTGCAGTGGGGATGTCAACACCTAACCCACCCTATCGTATAAAATTAATGTATGAATAAACTGAGTGAAAGGACATTATAAATTAAACTCTGCAATTGTAATAAATTACTCTTATTGTACCCTCTATCAAACAACCTGGCGTTACTAGTACATGGTATTCCCAGTACTTGAACATATGTGACTTTCTGGGTGACTGAGCATGAAATCAAATCAGATTTGGCTCAGAGTCATTTCTCCAAAGGGATGTAATCATCTTAGTATTCTGGAAAATTTCCCCTAATAAGACCCCTTTTTGAGTAACACAGTCCAGTGGAGAGTCCCCGCTGACAGTGAATAAGGCTGTGTCTATGTAAGTTCACATGATGTGGTTAGCACATGCAGTGTGTCCCAAGACATTTTCAGGCATCACAAAAACTTGAAAAGTACTAACAGTTGTCTTTCCTTTGGTATTTAGGCAAAAAATGAGGAAGATTCATAAGTAAGTTAACACAGAATTACCAAAAACCTCATGAGAAAGAAATGAAGGGATGTTTCAGGGTAGCTTTTCGAGTCCCAAGTGATCATTGATTTGGCCCTTCTGTTTCTGATTGTGAAAAAGCATTCTGAAAGAATGGGCGCCGGTTCAAGAGGAGGTCTCTGAGGGTCAGCCTTTGGCTGTTTATAGAGGTGAGATTCAAATGCCCTCAGATCATGAAAAGTGCTTGAACTCATTTCAGAGAAGAAATGTTTTGAAATGCCCGTGGAAATACTGAGTGGGCCACTTTTTTATTTTGTGAAATTAGAAACGTATAAACTATTTTTATTATTACAGATAATTGTGAAAGCCTCACTGGATGACATCCTAGCTGAGGAAAAGAATGGAATTTTTGTATTAGTATGAAATGCTAATTTATTACTGTATTTAGATCTACTGACCATCTGAGGGAGTTAGAAGTTAAAGTAAACAGCTGTATCTCTAGTTGATCTTTGCATATTTTAATCCAAATATGGCAAAGGGCAGGGCTAAAGAAGGGAGTGTCCATAAACGGGGCTCAGAACTTGTAACAGAAAATTAAAATATACTCCACTCAAGGGAATTCTGTACTTTGCCCTTTGGGTAAAGTCTCATTTACATTTCTAAACCTTTCTTAAGAAAATCGAATTTCCTTTGATCTCTCTTCTGAATTGCAGAAATCAGATAAAAACTACTTGGTGAAATGACTTCTTGTCACATTGCTGAAGAACATATACAAAAGGTTGCTATCTTTGGAGGAACCCATGGGAATGAGCTAACCGGAGTATTTCTGGTTAAGCATTGGCTAGAGAATGGCGCTGAGATTCAGAGAACAGGGCTGGAGGTAAAACCATTTATTACTAACCCCAGAGCAGTGAAGAAGTGTACCAGATATATTGACTGTGACCTGAATCGCATTTTTGACCTTGAAAATCTTGGGTAAGACTATGCTTTGTATTGTATATGTATGTATGTTGTGTGAAAAGTGGTAGGTGTGTGAAAGAGAACACATATATGTATATGCAGATGATAATTCATGTCCGTACATGCAGTCGTATGTTGAATAAGATCACTTTCACTTTTAATTATACTGCATTGTGAATTGCACAATTATCTAAACTGGGCATTCACATGCTCTTTTATAAACCTTCTTAAGCACCAGATTATTAAGTTTTCTTTTCAAATGTATACAGACTGAGACAATAAATAGAAAAGGGTTTTGTTTTAAAATCATACCTTTAAAGAAACAGATTTAATACTCCTTTGCATTGAGTTAGTGTTTGGCCACTATGCTTGCATATAAAATTGTTAGCTTTTTAGGAAATTCACTACGTTTTCAAGCAACTATGCTTACGGTAATGCATAAAGTTCTAGTTCAAAAAATGTAATGTTTCAAGTAATATTTGTTGAATGAAAGCGTGATTAAATATCTTTTGTCAGAAGACATCAGACACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGAGACAGAGCAAGACTCCGTCTCAAAAAAATAAATAAATAAATAAAAATAAAGACATCAGACCTCCCTGTGATCCGAAGTAGCAGACGTACTTAACTTCCATGGTGGATTGTTGTAGATGGGATACCAGAGATGAGAACTAAAGACACCATCTGAATTTTCAGAGCTTATATTTTGCTGATTTGTAATATATTGCATACAACGTAAGCAGTCATAACATGCTAGGTTAGGTCCTTATTAATTATTTTTGCCTTCGTTTACATCATAATAGCTACCACTGTGGATATAATATGACTCCACATATTTGCTTTTTACCACTTCTTTCTTTCTTTCTCTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGTCTGGAGTGCAATGGTGCAATCTCAGCTCACTGCAGCCTCCACCTCCGGGTTAAAGTGATTCTCCTGCCTCAACCTCCCGAGTAGCTGGGATTACAGGCACTTGCCACCATGTCCGGGTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCTGGGCCGCTTTTTTTCTTTTACTAAAAAATATTCTGAAACATCTGTTTTTCTCAGGAAACTGTGCCAGGTACTGGGGGAGTACACAGCTCTATACAACTTGGTTTCTACCCCTCAAGGAGTTGGTAGACTACTAGCTAAGATATAAGATACATGGCCGGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGCAGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTAAAACCCCGTCTCTACTAAAAAAAATACAAAAAATTAGCCGGGCATGGTGGCGGGCACCTGTAGTCCCAGCTATTCGGGAGACTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCAGAGATGGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATATATATATATATAAGATATGCACAGGCACAACTAGCCACTGTTCTATGTGCTTGTTTTCTGATCAACTCTAATTTGAGTTAGATCACTCCTTAGGTTTAGTCTCAACACAGATCAAAACATGGACACTACTCTTAATAGAAACATGCCTCACTTTATGGAATAGATGTTTTTCAGGGCAATTATACTGCAGTCATCCTGTTTGTATCAAATCATATTTTTA
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GTCATTTGTGCCAGCTACGAGTAAATAACTGAAGCAGCATTTCCAGAGAGACTAGGGCAAAGGACAGAACAAACTACAAATCAGCAGAAAAGAAACCAAGCATAGTAGAGTGTTAATAATTCACCATGGTTACTGCTCTTAAAACCAAAGCAACTAAACAACTGTCATCTGTTTACTTTTACGTGTGTTTTCATCATCTCTACACCGTCTGAAGTGTTCAGTGTACATGGATGTGGACAGACAGTCAAAGCCTACAGGAGCTTTTTTTTTCTATTAGAACAGTCATTTTAATGCATAGATTTGATGTGGTTATTTTGCTTTCTCTATCTCTGCATTATAAGCTCTTAAAGGAAGAACATTCAGTGGGTTTATTAAATATTAGGAAGCATTCATATTTTATTTTTCCACCATGTATTTGGTTTGTATGCATGTTTGTTTCCTGAGCACACTGTAATGGCTGTTTATGTGAATTCTGAAAGAGCAAAACTAGAACTGTGAAGAAGACCAAAAATAACAGAGAGGCACCCTATTGTCCTGTGAAAAACACTAGACTTGGGATGAGAAACATGGGTCTCAGGCCTAGGTTCTCCTACATCCCTGCAGAACCTTAACTGAGTTACTTAACCTCTCTTTCGTTTACCCCTGCAGTGGGGATGTCAACACCTAACCCACCCTATCGTATAAAATTAATGTATGAATAAACTGAGTGAAAGGACATTATAAATTAAACTCTGCAATTGTAATAAATTACTCTTATTGTACCCTCTATCAAACAACCTGGCGTTACTAGTACATGGTATTCCCAGTACTTGAACATATGTGACTTTCTGGGTGACTGAGCATGAAATCAAATCAGATTTGGCTCAGAGTCATTTCTCCAAAGGGATGTAATCATCTTAGTATTCTGGAAAATTTCCCCTAATAAGACCCCTTTTTGAGTAACACAGTCCAGTGGAGAGTCCCCGCTGACAGTGAATAAGGCTGTGTCTATGTAAGTTCACATGATGTGGTTAGCACATGCAGTGTGTCCCAAGACATTTTCAGGCATCACAAAAACTTGAAAAGTACTAACAGTTGTCTTTCCTTTGGTATTTAGGCAAAAAATGAGGAAGATTCATAAGTAAGTTAACACAGAATTACCAAAAACCTCATGAGAAAGAAATGAAGGGATGTTTCAGGGTAGCTTTTCGAGTCCCAAGTGATCATTGATTTGGCCCTTCTGTTTCTGATTGTGAAAAAGCATTCTGAAAGAATGGGCGCCGGTTCAAGAGGAGGTCTCTGAGGGTCAGCCTTTGGCTGTTTATAGAGGTGAGATTCAAATGCCCTCAGATCATGAAAAGTGCTTGAACTCATTTCAGAGAAGAAATGTTTTGAAATGCCCGTGGAAATACTGAGTGGGCCACTTTTTTATTTTGTGAAATTAGAAACGTATAAACTATTTTTATTATTACAGATAATTGTGAAAGCCTCACTGGATGACATCCTAGCTGAGGAAAAGAATGGAATTTTTGTATTAGTATGAAATGCTAATTTATTACTGTATTTAGATCTACTGACCATCTGAGGGAGTTAGAAGTTAAAGTAAACAGCTGTATCTCTAGTTGATCTTTGCATATTTTAATCCAAATATGGCAAAGGGCAGGGCTAAAGAAGGGAGTGTCCATAAACGGGGCTCAGAACTTGTAACAGAAAATTAAAATATACTCCACTCAAGGGAATTCTGTACTTTGCCCTTTGGGTAAAGTCTCATTTACATTTCTAAACCTTTCTTAAGAAAATCGAATTTCCTTTGATCTCTCTTCTGAATTGCAGAAATCAGATAAAAACTACTTGGTGAAATGACTTCTTGTCACATTGCTGAAGAACATATACAAAAGGTTGCTATCTTTGGAGGAACCCATGGGAATGAGCTAACCGGAGTATTTCTGGTTAAGCATTGGCTAGAGAATGGCGCTGAGATTCAGAGAACAGGGCTGGAGGTAAAACCATTTATTACTAACCCCAGAGCAGTGAAGAAGTGTACCAGATATATTGACTGTGACCTGAATAGCATTTTTGACCTTGAAAATCTTGGGTAAGACTATGCTTTGTATTGTATATGTATGTATGTTGTGTGAAAAGTGGTAGGTGTGTGAAAGAGAACACATATATGTATATGCAGATGATAATTCATGTCCGTACATGCAGTCGTATGTTGAATAAGATCACTTTCACTTTTAATTATACTGCATTGTGAATTGCACAATTATCTAAACTGGGCATTCACATGCTCTTTTATAAACCTTCTTAAGCACCAGATTATTAAGTTTTCTTTTCAAATGTATACAGACTGAGACAATAAATAGAAAAGGGTTTTGTTTTAAAATCATACCTTTAAAGAAACAGATTTAATACTCCTTTGCATTGAGTTAGTGTTTGGCCACTATGCTTGCATATAAAATTGTTAGCTTTTTAGGAAATTCACTACGTTTTCAAGCAACTATGCTTACGGTAATGCATAAAGTTCTAGTTCAAAAAATGTAATGTTTCAAGTAATATTTGTTGAATGAAAGCGTGATTAAATATCTTTTGTCAGAAGACATCAGACACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGAGACAGAGCAAGACTCCGTCTCAAAAAAATAAATAAATAAATAAAAATAAAGACATCAGACCTCCCTGTGATCCGAAGTAGCAGACGTACTTAACTTCCATGGTGGATTGTTGTAGATGGGATACCAGAGATGAGAACTAAAGACACCATCTGAATTTTCAGAGCTTATATTTTGCTGATTTGTAATATATTGCATACAACGTAAGCAGTCATAACATGCTAGGTTAGGTCCTTATTAATTATTTTTGCCTTCGTTTACATCATAATAGCTACCACTGTGGATATAATATGACTCCACATATTTGCTTTTTACCACTTCTTTCTTTCTTTCTCTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGTCTGGAGTGCAATGGTGCAATCTCAGCTCACTGCAGCCTCCACCTCCGGGTTAAAGTGATTCTCCTGCCTCAACCTCCCGAGTAGCTGGGATTACAGGCACTTGCCACCATGTCCGGGTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCTGGGCCGCTTTTTTTCTTTTACTAAAAAATATTCTGAAACATCTGTTTTTCTCAGGAAACTGTGCCAGGTACTGGGGGAGTACACAGCTCTATACAACTTGGTTTCTACCCCTCAAGGAGTTGGTAGACTACTAGCTAAGATATAAGATACATGGCCGGGCACAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGCAGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTAAAACCCCGTCTCTACTAAAAAAAATACAAAAAATTAGCCGGGCATGGTGGCGGGCACCTGTAGTCCCAGCTATTCGGGAGACTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCAGAGATGGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATATATATATATATAAGATATGCACAGGCACAACTAGCCACTGTTCTATGTGCTTGTTTTCTGATCAACTCTAATTTGAGTTAGATCACTCCTTAGGTTTAGTCTCAACACAGATCAAAACATGGACACTACTCTTAATAGAAACATGCCTCACTTTATGGAATAGATGTTTTTCAGGGCAATTATACTGCAGTCATCCTGTTTGTATCAAATCATATTTTTA
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Task1_train_23208
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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?
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Pathogenic; Spongy degeneration of central nervous system
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TCTACCTTCCCAGTGCACTATCTCAAGATGCCGGCTTTGTCCTCATGGTTTTTGCTTCAAAGTCACAAAATAACTACTCCACCTTCCTGATCTCATTCCAGGCAGGAATTAGCCCATTGTACACAGTAGGTCCCTTGAAGATACTAGCAAAAATAACCAAGGAATACAAATAGATGGAATTTTAGGAAAATGTGGTTGAACGGTTTAATGAGGAAAAGTAAATGAAAAACATTATTATATCTAGAAAAAAAATGTATCTTAACCATTGTGGGAAGTGGGGAGAGGGTAGAGGCCCATTTGAGAATGGAAGAAAAACTACTGGCCCTTGTGCCAGAAAAAAAATACATATATCTGTACCTGCAAACTTGTGGCCTTTTTGGAGAGGTTAGACTCTGAAAACTCTGTCCCTGGACCTCTAGTGGTTCCTGGACCTCAATTAAGAATCTCTAATTAGGCCAGGTGTGGCTGCTCATACTTGTAATTCCAGCACTTTGGGAGGCCAAGGCAGGAGGATTGCCTGAGGCCAAGACTTCTGTAACCACCCAGCAAGTTCTCCTCATCCGCTGCCCAGACAGAGCTGATTTATCAAGACAAGGGAACTGCAATAAAGAGTTTAATTCACACAGAGCCGGCTGTACAGAAGGCCAGAGTTTTATTATTACTCAAATCAGTCTCCCCGAAAATTCAGACACTGGAATTTTTAAGGATAATTTGGTGGGTAGGGGGCCAGTGAGTCGGGAGTGCTGATTGATCAGATTGAAGGTAAAATCATAGGGAGTTGGAGCTGTCCTCTTGCGCTGAATCAGTTCCTACGTGGGGACCACGAGACCAGATAAGCCAGTTTATCCATCTGGGTGGTGCCAGCTGATCTGTCAACTCAGGGTTTACAAAATATCTCAAGCCCTGATCTTAGGTTTTACAATAGTGATGTTATCCCCAGGAGCAATTTCAGGAGGTTCAGAATCTTGCGGCCCTCCAGCTGCATGACTCCTAAACCATAATTTCTCATCTTGTGGCTAATTTGTTAGTCCTGCAAAGGCAGTCTAGTCCCCAGGTAGGAAGGGGGCTTGTTTTGGGAAAGGGCTGTTATCATCTTTGTTTCAAAGTTAAGCTGTAAGTTCCTCCCAAAGTTAGTTCAGTTTACACCCAGGCATGAACAAGGATAGCTTGGAGATTAGAAGCAAGATGGAGTCAGGTTAGATCTCTTTCATTGTAATAATTGTCTCAGTTATAATTTTTGCAAAGGCAGTTTTAGTTCAAGACCAGCCTGGGCAACAGAGCAAGACTGTATCTCCACAAAAGATAAGAAGATTAGCTGGGCATGGTGGCACGCACCTGTAGTTTCAGCAGCTACTCAGGAGGCTGAGATGGGAAGATTGCTTGAGCCCAGGAGTTTGAGGGTACAGTGATCCATAATTGGGCCACTGCACTCCAGCCTGGGCAACAGAGCAGAATCCTGTCTCAAAAAATTAAAAATTAAAATGATCTCTAATTAGATTATGTGAGCCCCTAAGTGACTATATTTGTGCACTAGAATTAGCTAAAGTGGGGGAAAAAAAGATGCATTTGATGGTCTAGTCCCATAATAAATAACCCAGTGTACCATAACTACTAAGAAACTGTTCATTAAATTAATGGATATGTTGCGTTCAAGATTGAAATCAAATGATAAATTCTGTTTGATATGTCCTATTCATGACCAGCCACATAAATGCACGTATTACTTCGCAAGCATGCCAATGCAACATTAGTTATATGGAATCAAATGAAGAAAAAGAATGTAAGTTTTCATATATAAACATTTCAGGTAAGTTTTTACTTACCACACAGATTTTTCATATTAAAGATTTGGCGACTGGTTCTTTTTACACTGTGTTCTTATTATATGTTTATATTATCTCAGGCACAGATGTTGTTCATCTTTTTCTTTCTGCTTATAACAGCAAAAAAATGTCAGAAGATTTGCCATATGAAGTGAGAAGGGCTCAAGAAATAAATCATTTATTTGGTCCAAAAGACAGTGAAGATTCCTATGACATTATTTTTGACCTTCACAACACCACCTCTAACATGGGGTGCACTCTTATTCTTGAGGATTCCAGGAATAACTTTTTAATTCAGATGTTTCATTACATTAAGGTAATGTTAATGTTATTAATTTATAAGTTAGCAAAGGACTTGTACTTTTAAGTCAATTATGGATGTGAGACAATCAGAAAACAGTTATGAGGGAAGGTGCAAGAGAAATGGGGTTTATTCCATAGCCAGGCTTGGTGGTTGGGGGGAAAGGGTGCTACCAGAACACAGAGGCAGTGGTGAGAGGAAGGAGAAAAAGAGAGGAAATAAGTAAAATAATAAACACAATTAATAAAGTAATAAAACACTTGTGGATTCTTGTGTCTATAAAATTACACGTTTTATCCAGACAGCCACCAGATGGTGGGGTATTTGTTAAAACCAAGTAAAATTAATATTAAAAGTTTAAATGGTATGGTCAATTTGTTAAAACCAAGTAAAATTAATATTAAAACTTTAAATGGTATGGGATCTCAATTACAAGGTTTTAGGAAACTTAAGAAATAGTCCTTTAACGTAGACTAAAGCCCAGTGATAAAAAGATTGCCTCCCTTTAGTCCTGCCCTCGTCCCCATTTGATTTAGACACCCCAGAATACGTCTAATCTTTCAGTACTTCATAATCATTTTAAGGCTCAGAAATCTCAGAGAAAATTTGCTAGAAAATAGCAACCAACCAGAAACACACATAAGGAACTGTATGCTTATTTCTGTGTACTAGATAGCCTTCCTTCCTGAGAGCAAGGATGATTGAGAGGAAAGAGTGTGGCCTGTGCTCAGATCCTGACTTTCTCCTTCACTAACCTTAGACAAAACACACCATTCCCAAAACCTTGCCTCCTTCATTTTATAAAATTGGTGTCATAACAAACAACACTTACCCATAAGGGTACTCAAAGCCTTAAATGACATAAAGTATTTAAAACATTTAGCCTCATACCTGGCCTATAGTAAAGATTATTATTTTTGTTTCCCTTCAGTTTTGGACAGTAACTGGGTAGTGGTCCTGGTAGGAGATCATAATGTAGCGATTCTTTTTTTTTTTAATTTTTTTTAAATTTTATTACTATTATACTTTAAGTTTTAGGGTACATGTGCACCATGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCCGCACCCATTAACTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCCACCCCAATTCTTCATTGCCTATTGAAGAGAGAGCGGAATGCTTTGGTTGCCAGATATGGAAGCAGAATTGCTGACACTTTGTTATCCAAACCAAGAGGCCTGTCTTCAATTTTCATGCAGATAAGCAGGAGGAGGGGGAATCACCCAACATCTGTAGAGAGCTGGACCACAGGAATAGAAACAGAATTGTTTAAGAGACCAATACCAAGCTAAATAGTTAGTGTAACCAGTGATGAAACAAAAATCACCACATCCATTAAGAAAGAACATTTATTTCATGTTTTTTGATCATGGTTCTGGAGAACTATTTAATGTATATTTTACCTGGAAAGACACTGTATAATTCAATTGTATATGAATTTCATATTGTATAATTTATTTGTATGTTTTCAAAGCTATAATACCATTGGGTTTTAAAGTATTTCATAAAGCTGTCTTACCAATCTTAGTTGATGAAGTAAAACGTATTGAAGGTATTATTGACTCTGTTGAAGCAAAGAGAACAAAACATACGGTTTTTACCTAAGAAAGACGTTTTTGATTTTTTTCAGACTTCTCTGGCTCCACTACCCTGCTACGTTTATCTGATTGAGCATCCTTCCCTCAAATATGCGACCACTCGTTCCATAGCCAAGTATCCTGTGGGTAAGTCATAGTTCCCACTGTCATAACTCAATAAAATATGTCCTAGCTGAAACTCAGAGAAATTTATTTTTTATCTTATTTTATTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTCCGATGGTGTGATCTCAGCTCACTGCAACCTCTACCTCTC
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TCTACCTTCCCAGTGCACTATCTCAAGATGCCGGCTTTGTCCTCATGGTTTTTGCTTCAAAGTCACAAAATAACTACTCCACCTTCCTGATCTCATTCCAGGCAGGAATTAGCCCATTGTACACAGTAGGTCCCTTGAAGATACTAGCAAAAATAACCAAGGAATACAAATAGATGGAATTTTAGGAAAATGTGGTTGAACGGTTTAATGAGGAAAAGTAAATGAAAAACATTATTATATCTAGAAAAAAAATGTATCTTAACCATTGTGGGAAGTGGGGAGAGGGTAGAGGCCCATTTGAGAATGGAAGAAAAACTACTGGCCCTTGTGCCAGAAAAAAAATACATATATCTGTACCTGCAAACTTGTGGCCTTTTTGGAGAGGTTAGACTCTGAAAACTCTGTCCCTGGACCTCTAGTGGTTCCTGGACCTCAATTAAGAATCTCTAATTAGGCCAGGTGTGGCTGCTCATACTTGTAATTCCAGCACTTTGGGAGGCCAAGGCAGGAGGATTGCCTGAGGCCAAGACTTCTGTAACCACCCAGCAAGTTCTCCTCATCCGCTGCCCAGACAGAGCTGATTTATCAAGACAAGGGAACTGCAATAAAGAGTTTAATTCACACAGAGCCGGCTGTACAGAAGGCCAGAGTTTTATTATTACTCAAATCAGTCTCCCCGAAAATTCAGACACTGGAATTTTTAAGGATAATTTGGTGGGTAGGGGGCCAGTGAGTCGGGAGTGCTGATTGATCAGATTGAAGGTAAAATCATAGGGAGTTGGAGCTGTCCTCTTGCGCTGAATCAGTTCCTACGTGGGGACCACGAGACCAGATAAGCCAGTTTATCCATCTGGGTGGTGCCAGCTGATCTGTCAACTCAGGGTTTACAAAATATCTCAAGCCCTGATCTTAGGTTTTACAATAGTGATGTTATCCCCAGGAGCAATTTCAGGAGGTTCAGAATCTTGCGGCCCTCCAGCTGCATGACTCCTAAACCATAATTTCTCATCTTGTGGCTAATTTGTTAGTCCTGCAAAGGCAGTCTAGTCCCCAGGTAGGAAGGGGGCTTGTTTTGGGAAAGGGCTGTTATCATCTTTGTTTCAAAGTTAAGCTGTAAGTTCCTCCCAAAGTTAGTTCAGTTTACACCCAGGCATGAACAAGGATAGCTTGGAGATTAGAAGCAAGATGGAGTCAGGTTAGATCTCTTTCATTGTAATAATTGTCTCAGTTATAATTTTTGCAAAGGCAGTTTTAGTTCAAGACCAGCCTGGGCAACAGAGCAAGACTGTATCTCCACAAAAGATAAGAAGATTAGCTGGGCATGGTGGCACGCACCTGTAGTTTCAGCAGCTACTCAGGAGGCTGAGATGGGAAGATTGCTTGAGCCCAGGAGTTTGAGGGTACAGTGATCCATAATTGGGCCACTGCACTCCAGCCTGGGCAACAGAGCAGAATCCTGTCTCAAAAAATTAAAAATTAAAATGATCTCTAATTAGATTATGTGAGCCCCTAAGTGACTATATTTGTGCACTAGAATTAGCTAAAGTGGGGGAAAAAAAGATGCATTTGATGGTCTAGTCCCATAATAAATAACCCAGTGTACCATAACTACTAAGAAACTGTTCATTAAATTAATGGATATGTTGCGTTCAAGATTGAAATCAAATGATAAATTCTGTTTGATATGTCCTATTCATGACCAGCCACATAAATGCACGTATTACTTCGCAAGCATGCCAATGCAACATTAGTTATATGGAATCAAATGAAGAAAAAGAATGTAAGTTTTCATATATAAACATTTCAGGTAAGTTTTTACTTACCACACAGATTTTTCATATTAAAGATTTGGCGACTGGTTCTTTTTACACTGTGTTCTTATTATATGTTTATATTATCTCAGGCACAGATGTTGTTCATCTTTTTCTTTCTGCTTATAACAGCAAAAAAATGTCAGAAGATTTGCCATATGAAGTGAGAAGGGCTCAAGAAATAAATCATTTATTTGGTCCAAAAGACAGTGAAGATTCCTATGACATTATTTTTGAACTTCACAACACCACCTCTAACATGGGGTGCACTCTTATTCTTGAGGATTCCAGGAATAACTTTTTAATTCAGATGTTTCATTACATTAAGGTAATGTTAATGTTATTAATTTATAAGTTAGCAAAGGACTTGTACTTTTAAGTCAATTATGGATGTGAGACAATCAGAAAACAGTTATGAGGGAAGGTGCAAGAGAAATGGGGTTTATTCCATAGCCAGGCTTGGTGGTTGGGGGGAAAGGGTGCTACCAGAACACAGAGGCAGTGGTGAGAGGAAGGAGAAAAAGAGAGGAAATAAGTAAAATAATAAACACAATTAATAAAGTAATAAAACACTTGTGGATTCTTGTGTCTATAAAATTACACGTTTTATCCAGACAGCCACCAGATGGTGGGGTATTTGTTAAAACCAAGTAAAATTAATATTAAAAGTTTAAATGGTATGGTCAATTTGTTAAAACCAAGTAAAATTAATATTAAAACTTTAAATGGTATGGGATCTCAATTACAAGGTTTTAGGAAACTTAAGAAATAGTCCTTTAACGTAGACTAAAGCCCAGTGATAAAAAGATTGCCTCCCTTTAGTCCTGCCCTCGTCCCCATTTGATTTAGACACCCCAGAATACGTCTAATCTTTCAGTACTTCATAATCATTTTAAGGCTCAGAAATCTCAGAGAAAATTTGCTAGAAAATAGCAACCAACCAGAAACACACATAAGGAACTGTATGCTTATTTCTGTGTACTAGATAGCCTTCCTTCCTGAGAGCAAGGATGATTGAGAGGAAAGAGTGTGGCCTGTGCTCAGATCCTGACTTTCTCCTTCACTAACCTTAGACAAAACACACCATTCCCAAAACCTTGCCTCCTTCATTTTATAAAATTGGTGTCATAACAAACAACACTTACCCATAAGGGTACTCAAAGCCTTAAATGACATAAAGTATTTAAAACATTTAGCCTCATACCTGGCCTATAGTAAAGATTATTATTTTTGTTTCCCTTCAGTTTTGGACAGTAACTGGGTAGTGGTCCTGGTAGGAGATCATAATGTAGCGATTCTTTTTTTTTTTAATTTTTTTTAAATTTTATTACTATTATACTTTAAGTTTTAGGGTACATGTGCACCATGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCCGCACCCATTAACTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCCACCCCAATTCTTCATTGCCTATTGAAGAGAGAGCGGAATGCTTTGGTTGCCAGATATGGAAGCAGAATTGCTGACACTTTGTTATCCAAACCAAGAGGCCTGTCTTCAATTTTCATGCAGATAAGCAGGAGGAGGGGGAATCACCCAACATCTGTAGAGAGCTGGACCACAGGAATAGAAACAGAATTGTTTAAGAGACCAATACCAAGCTAAATAGTTAGTGTAACCAGTGATGAAACAAAAATCACCACATCCATTAAGAAAGAACATTTATTTCATGTTTTTTGATCATGGTTCTGGAGAACTATTTAATGTATATTTTACCTGGAAAGACACTGTATAATTCAATTGTATATGAATTTCATATTGTATAATTTATTTGTATGTTTTCAAAGCTATAATACCATTGGGTTTTAAAGTATTTCATAAAGCTGTCTTACCAATCTTAGTTGATGAAGTAAAACGTATTGAAGGTATTATTGACTCTGTTGAAGCAAAGAGAACAAAACATACGGTTTTTACCTAAGAAAGACGTTTTTGATTTTTTTCAGACTTCTCTGGCTCCACTACCCTGCTACGTTTATCTGATTGAGCATCCTTCCCTCAAATATGCGACCACTCGTTCCATAGCCAAGTATCCTGTGGGTAAGTCATAGTTCCCACTGTCATAACTCAATAAAATATGTCCTAGCTGAAACTCAGAGAAATTTATTTTTTATCTTATTTTATTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTCCGATGGTGTGATCTCAGCTCACTGCAACCTCTACCTCTC
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Task1_train_23209
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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.
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Pathogenic; Spongy degeneration of central nervous system
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TATGTTTATATTATCTCAGGCACAGATGTTGTTCATCTTTTTCTTTCTGCTTATAACAGCAAAAAAATGTCAGAAGATTTGCCATATGAAGTGAGAAGGGCTCAAGAAATAAATCATTTATTTGGTCCAAAAGACAGTGAAGATTCCTATGACATTATTTTTGACCTTCACAACACCACCTCTAACATGGGGTGCACTCTTATTCTTGAGGATTCCAGGAATAACTTTTTAATTCAGATGTTTCATTACATTAAGGTAATGTTAATGTTATTAATTTATAAGTTAGCAAAGGACTTGTACTTTTAAGTCAATTATGGATGTGAGACAATCAGAAAACAGTTATGAGGGAAGGTGCAAGAGAAATGGGGTTTATTCCATAGCCAGGCTTGGTGGTTGGGGGGAAAGGGTGCTACCAGAACACAGAGGCAGTGGTGAGAGGAAGGAGAAAAAGAGAGGAAATAAGTAAAATAATAAACACAATTAATAAAGTAATAAAACACTTGTGGATTCTTGTGTCTATAAAATTACACGTTTTATCCAGACAGCCACCAGATGGTGGGGTATTTGTTAAAACCAAGTAAAATTAATATTAAAAGTTTAAATGGTATGGTCAATTTGTTAAAACCAAGTAAAATTAATATTAAAACTTTAAATGGTATGGGATCTCAATTACAAGGTTTTAGGAAACTTAAGAAATAGTCCTTTAACGTAGACTAAAGCCCAGTGATAAAAAGATTGCCTCCCTTTAGTCCTGCCCTCGTCCCCATTTGATTTAGACACCCCAGAATACGTCTAATCTTTCAGTACTTCATAATCATTTTAAGGCTCAGAAATCTCAGAGAAAATTTGCTAGAAAATAGCAACCAACCAGAAACACACATAAGGAACTGTATGCTTATTTCTGTGTACTAGATAGCCTTCCTTCCTGAGAGCAAGGATGATTGAGAGGAAAGAGTGTGGCCTGTGCTCAGATCCTGACTTTCTCCTTCACTAACCTTAGACAAAACACACCATTCCCAAAACCTTGCCTCCTTCATTTTATAAAATTGGTGTCATAACAAACAACACTTACCCATAAGGGTACTCAAAGCCTTAAATGACATAAAGTATTTAAAACATTTAGCCTCATACCTGGCCTATAGTAAAGATTATTATTTTTGTTTCCCTTCAGTTTTGGACAGTAACTGGGTAGTGGTCCTGGTAGGAGATCATAATGTAGCGATTCTTTTTTTTTTTAATTTTTTTTAAATTTTATTACTATTATACTTTAAGTTTTAGGGTACATGTGCACCATGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCCGCACCCATTAACTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCCACCCCAATTCTTCATTGCCTATTGAAGAGAGAGCGGAATGCTTTGGTTGCCAGATATGGAAGCAGAATTGCTGACACTTTGTTATCCAAACCAAGAGGCCTGTCTTCAATTTTCATGCAGATAAGCAGGAGGAGGGGGAATCACCCAACATCTGTAGAGAGCTGGACCACAGGAATAGAAACAGAATTGTTTAAGAGACCAATACCAAGCTAAATAGTTAGTGTAACCAGTGATGAAACAAAAATCACCACATCCATTAAGAAAGAACATTTATTTCATGTTTTTTGATCATGGTTCTGGAGAACTATTTAATGTATATTTTACCTGGAAAGACACTGTATAATTCAATTGTATATGAATTTCATATTGTATAATTTATTTGTATGTTTTCAAAGCTATAATACCATTGGGTTTTAAAGTATTTCATAAAGCTGTCTTACCAATCTTAGTTGATGAAGTAAAACGTATTGAAGGTATTATTGACTCTGTTGAAGCAAAGAGAACAAAACATACGGTTTTTACCTAAGAAAGACGTTTTTGATTTTTTTCAGACTTCTCTGGCTCCACTACCCTGCTACGTTTATCTGATTGAGCATCCTTCCCTCAAATATGCGACCACTCGTTCCATAGCCAAGTATCCTGTGGGTAAGTCATAGTTCCCACTGTCATAACTCAATAAAATATGTCCTAGCTGAAACTCAGAGAAATTTATTTTTTATCTTATTTTATTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTCCGATGGTGTGATCTCAGCTCACTGCAACCTCTACCTCTCTGGTTCAAGTGATTCTCCTGCCTCAAGCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCCTGTAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTAGCCAGGGCTGGCCTCAAACTCCTGACCTCAGGTGATGCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACTGCCTGGCCGAGAAAATTATTTTTAAAAAAACATTTACAGCTACCTTCCATATCCTTAGGCTTATAATTGTCAAGTAACAAGCAATTTAGCTCCAGGCAGGCTCTAATTGTACCGAATTTCCCCAATTTCACTGAGCAGCTTTCTGGTTTTGTTCATGTTCCCTTTGCTGTAATGCTTGGCCCTTCTATTTAGTCTGGCACAATTCTTCTCATTCTCAAGATTCAGTTCACCTGTCACCTCCTATAGAACTTTCCCTGACCCTCCTCTATAGCATTAATTACTCCAGAAATGTGTACATTTGACTAATATTTATAGTGTGCCTACCAGAGACCAACCCTGTGCTAGGTGCGGGGGACAGAACAATGAGCAAGACACACAGTCTCCCCTCAAACAGCTTCGTATGTGATGAGAAAACAGACAGGTAACCAGGTAATCACTGCACAGAGTGATAAATGCTAAATAGGGGCAATTACAGGAGACTGGAAGAGCAGGAAAGACCTAACCCAGTCTTGATGGATCACAGAAGGCCCAAAGAAGTGGGATCCATCTTGAGGTTGTGTATGTGTATGTGTTTGGGGGAGGAAAGGAAAAAAATTGAGAGCAGTCAACAGGATTCTAGACAAGTGTCTTGAAATTATCTGTGATGAAAGGCCATTGCTGATTTCCAATCTGCTATAGAGCAATACTTTTGTAAAATGTAATTTAAAAATGGATTTCTAGAAAAACGATCACATACTTGAATATTTTAGCAATGTCAAATTGCTATAAAAGTTTCTAAACACTTACTTTAATTTCTGTACATATCTCGCCTGGGACCAGCAGCAGACAATTGGTGGACCAGTCCCTGTCCTCAGACAATACTTTGAGGAAAAAGGAATATCATATACAAGGGCCCCAAACCCCTAACTGATGACATGCCATACTTGATACACTGTGTTCTCCATTTATCTTAGCACTCTCTGTTCCCTATCCCCTTCTGCAGGCTGATAATGTATGCTTACTAAATATTAGCTCAAATTACCAGTAAGTACACAATTCTAACTTATAAATGATCATCATTCACAGTAGGGTTTTGTTTTGTTTTTTTTCTGGAAAAGGGTCTCACTCTGTTGCCCAGGCTGAGTGTAGTGGCACGATCACAGTTCACTGCAGCCTTGACCTCCTGGGCTCAGGCAATCCTCCCATCTCAGCCTCCCAAGTAGCTTGAACTACAGGCACGTGCCACCACATTCAGCTAATTTTTTATTTTTTGTAGAGACAGGATCTCAGTATGATCAGGTCTCAAACTCCTGATTCAAGCGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCACACCTGTACCTCATTCACAGTTTTAATCACACCTATCCCACACAGACTTATACAAACTTATCCATTCCTTCCCATGCAGGTTCTATAACTATAACCATATATAAAATACTAGCCAACCAGGAGAATCGCTTGAACCCCGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCGGGGCAACAAAAGTGAAACTCCGTCTCAAAAAAACAAACAAACAAAAATACTAGCCATCTAACACTGGAAATACATACATTCATGAGCTTGTCCGGAGTGATCAGATTTGACTGGATCAGAAAGGCAAGGGATCTGTTTCTCCAAAGTGCTTG
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TATGTTTATATTATCTCAGGCACAGATGTTGTTCATCTTTTTCTTTCTGCTTATAACAGCAAAAAAATGTCAGAAGATTTGCCATATGAAGTGAGAAGGGCTCAAGAAATAAATCATTTATTTGGTCCAAAAGACAGTGAAGATTCCTATGACATTATTTTTGACCTTCACAACACCACCTCTAACATGGGGTGCACTCTTATTCTTGAGGATTCCAGGAATAACTTTTTAATTCAGATGTTTCATTACATTAAGGTAATGTTAATGTTATTAATTTATAAGTTAGCAAAGGACTTGTACTTTTAAGTCAATTATGGATGTGAGACAATCAGAAAACAGTTATGAGGGAAGGTGCAAGAGAAATGGGGTTTATTCCATAGCCAGGCTTGGTGGTTGGGGGGAAAGGGTGCTACCAGAACACAGAGGCAGTGGTGAGAGGAAGGAGAAAAAGAGAGGAAATAAGTAAAATAATAAACACAATTAATAAAGTAATAAAACACTTGTGGATTCTTGTGTCTATAAAATTACACGTTTTATCCAGACAGCCACCAGATGGTGGGGTATTTGTTAAAACCAAGTAAAATTAATATTAAAAGTTTAAATGGTATGGTCAATTTGTTAAAACCAAGTAAAATTAATATTAAAACTTTAAATGGTATGGGATCTCAATTACAAGGTTTTAGGAAACTTAAGAAATAGTCCTTTAACGTAGACTAAAGCCCAGTGATAAAAAGATTGCCTCCCTTTAGTCCTGCCCTCGTCCCCATTTGATTTAGACACCCCAGAATACGTCTAATCTTTCAGTACTTCATAATCATTTTAAGGCTCAGAAATCTCAGAGAAAATTTGCTAGAAAATAGCAACCAACCAGAAACACACATAAGGAACTGTATGCTTATTTCTGTGTACTAGATAGCCTTCCTTCCTGAGAGCAAGGATGATTGAGAGGAAAGAGTGTGGCCTGTGCTCAGATCCTGACTTTCTCCTTCACTAACCTTAGACAAAACACACCATTCCCAAAACCTTGCCTCCTTCATTTTATAAAATTGGTGTCATAACAAACAACACTTACCCATAAGGGTACTCAAAGCCTTAAATGACATAAAGTATTTAAAACATTTAGCCTCATACCTGGCCTATAGTAAAGATTATTATTTTTGTTTCCCTTCAGTTTTGGACAGTAACTGGGTAGTGGTCCTGGTAGGAGATCATAATGTAGCGATTCTTTTTTTTTTTAATTTTTTTTAAATTTTATTACTATTATACTTTAAGTTTTAGGGTACATGTGCACCATGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCCGCACCCATTAACTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCCACCCCAATTCTTCATTGCCTATTGAAGAGAGAGCGGAATGCTTTGGTTGCCAGATATGGAAGCAGAATTGCTGACACTTTGTTATCCAAACCAAGAGGCCTGTCTTCAATTTTCATGCAGATAAGCAGGAGGAGGGGGAATCACCCAACATCTGTAGAGAGCTGGACCACAGGAATAGAAACAGAATTGTTTAAGAGACCAATACCAAGCTAAATAGTTAGTGTAACCAGTGATGAAACAAAAATCACCACATCCATTAAGAAAGAACATTTATTTCATGTTTTTTGATCATGGTTCTGGAGAACTATTTAATGTATATTTTACCTGGAAAGACACTGTATAATTCAATTGTATATGAATTTCATATTGTATAATTTATTTGTATGTTTTCAAAGCTATAATACCATTGGGTTTTAAAGTATTTCATAAAGCTGTCTTACCAATCTTAGTTGATGAAGTAAAACGTATTGAAGGTATTATTGACTCTGTTGAAGCAAAGAGAACAAAACATACGGTTTTTACCTAAGAAAGACGTTTTTGATTTTTTTCAGACTTCTCTGGCTCCACTACCCTGCTACGTTTATCTGATTGAGCATCCTTCCCTCAAATATGCGACCACTCGTTCCATAGCCAAGTATCCTGTGAGTAAGTCATAGTTCCCACTGTCATAACTCAATAAAATATGTCCTAGCTGAAACTCAGAGAAATTTATTTTTTATCTTATTTTATTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTCCGATGGTGTGATCTCAGCTCACTGCAACCTCTACCTCTCTGGTTCAAGTGATTCTCCTGCCTCAAGCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCCTGTAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTAGCCAGGGCTGGCCTCAAACTCCTGACCTCAGGTGATGCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACTGCCTGGCCGAGAAAATTATTTTTAAAAAAACATTTACAGCTACCTTCCATATCCTTAGGCTTATAATTGTCAAGTAACAAGCAATTTAGCTCCAGGCAGGCTCTAATTGTACCGAATTTCCCCAATTTCACTGAGCAGCTTTCTGGTTTTGTTCATGTTCCCTTTGCTGTAATGCTTGGCCCTTCTATTTAGTCTGGCACAATTCTTCTCATTCTCAAGATTCAGTTCACCTGTCACCTCCTATAGAACTTTCCCTGACCCTCCTCTATAGCATTAATTACTCCAGAAATGTGTACATTTGACTAATATTTATAGTGTGCCTACCAGAGACCAACCCTGTGCTAGGTGCGGGGGACAGAACAATGAGCAAGACACACAGTCTCCCCTCAAACAGCTTCGTATGTGATGAGAAAACAGACAGGTAACCAGGTAATCACTGCACAGAGTGATAAATGCTAAATAGGGGCAATTACAGGAGACTGGAAGAGCAGGAAAGACCTAACCCAGTCTTGATGGATCACAGAAGGCCCAAAGAAGTGGGATCCATCTTGAGGTTGTGTATGTGTATGTGTTTGGGGGAGGAAAGGAAAAAAATTGAGAGCAGTCAACAGGATTCTAGACAAGTGTCTTGAAATTATCTGTGATGAAAGGCCATTGCTGATTTCCAATCTGCTATAGAGCAATACTTTTGTAAAATGTAATTTAAAAATGGATTTCTAGAAAAACGATCACATACTTGAATATTTTAGCAATGTCAAATTGCTATAAAAGTTTCTAAACACTTACTTTAATTTCTGTACATATCTCGCCTGGGACCAGCAGCAGACAATTGGTGGACCAGTCCCTGTCCTCAGACAATACTTTGAGGAAAAAGGAATATCATATACAAGGGCCCCAAACCCCTAACTGATGACATGCCATACTTGATACACTGTGTTCTCCATTTATCTTAGCACTCTCTGTTCCCTATCCCCTTCTGCAGGCTGATAATGTATGCTTACTAAATATTAGCTCAAATTACCAGTAAGTACACAATTCTAACTTATAAATGATCATCATTCACAGTAGGGTTTTGTTTTGTTTTTTTTCTGGAAAAGGGTCTCACTCTGTTGCCCAGGCTGAGTGTAGTGGCACGATCACAGTTCACTGCAGCCTTGACCTCCTGGGCTCAGGCAATCCTCCCATCTCAGCCTCCCAAGTAGCTTGAACTACAGGCACGTGCCACCACATTCAGCTAATTTTTTATTTTTTGTAGAGACAGGATCTCAGTATGATCAGGTCTCAAACTCCTGATTCAAGCGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCACACCTGTACCTCATTCACAGTTTTAATCACACCTATCCCACACAGACTTATACAAACTTATCCATTCCTTCCCATGCAGGTTCTATAACTATAACCATATATAAAATACTAGCCAACCAGGAGAATCGCTTGAACCCCGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCGGGGCAACAAAAGTGAAACTCCGTCTCAAAAAAACAAACAAACAAAAATACTAGCCATCTAACACTGGAAATACATACATTCATGAGCTTGTCCGGAGTGATCAGATTTGACTGGATCAGAAAGGCAAGGGATCTGTTTCTCCAAAGTGCTTG
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Task1_train_23210
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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?
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Pathogenic; Mild Canavan disease
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TATGTTTATATTATCTCAGGCACAGATGTTGTTCATCTTTTTCTTTCTGCTTATAACAGCAAAAAAATGTCAGAAGATTTGCCATATGAAGTGAGAAGGGCTCAAGAAATAAATCATTTATTTGGTCCAAAAGACAGTGAAGATTCCTATGACATTATTTTTGACCTTCACAACACCACCTCTAACATGGGGTGCACTCTTATTCTTGAGGATTCCAGGAATAACTTTTTAATTCAGATGTTTCATTACATTAAGGTAATGTTAATGTTATTAATTTATAAGTTAGCAAAGGACTTGTACTTTTAAGTCAATTATGGATGTGAGACAATCAGAAAACAGTTATGAGGGAAGGTGCAAGAGAAATGGGGTTTATTCCATAGCCAGGCTTGGTGGTTGGGGGGAAAGGGTGCTACCAGAACACAGAGGCAGTGGTGAGAGGAAGGAGAAAAAGAGAGGAAATAAGTAAAATAATAAACACAATTAATAAAGTAATAAAACACTTGTGGATTCTTGTGTCTATAAAATTACACGTTTTATCCAGACAGCCACCAGATGGTGGGGTATTTGTTAAAACCAAGTAAAATTAATATTAAAAGTTTAAATGGTATGGTCAATTTGTTAAAACCAAGTAAAATTAATATTAAAACTTTAAATGGTATGGGATCTCAATTACAAGGTTTTAGGAAACTTAAGAAATAGTCCTTTAACGTAGACTAAAGCCCAGTGATAAAAAGATTGCCTCCCTTTAGTCCTGCCCTCGTCCCCATTTGATTTAGACACCCCAGAATACGTCTAATCTTTCAGTACTTCATAATCATTTTAAGGCTCAGAAATCTCAGAGAAAATTTGCTAGAAAATAGCAACCAACCAGAAACACACATAAGGAACTGTATGCTTATTTCTGTGTACTAGATAGCCTTCCTTCCTGAGAGCAAGGATGATTGAGAGGAAAGAGTGTGGCCTGTGCTCAGATCCTGACTTTCTCCTTCACTAACCTTAGACAAAACACACCATTCCCAAAACCTTGCCTCCTTCATTTTATAAAATTGGTGTCATAACAAACAACACTTACCCATAAGGGTACTCAAAGCCTTAAATGACATAAAGTATTTAAAACATTTAGCCTCATACCTGGCCTATAGTAAAGATTATTATTTTTGTTTCCCTTCAGTTTTGGACAGTAACTGGGTAGTGGTCCTGGTAGGAGATCATAATGTAGCGATTCTTTTTTTTTTTAATTTTTTTTAAATTTTATTACTATTATACTTTAAGTTTTAGGGTACATGTGCACCATGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCCGCACCCATTAACTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCCACCCCAATTCTTCATTGCCTATTGAAGAGAGAGCGGAATGCTTTGGTTGCCAGATATGGAAGCAGAATTGCTGACACTTTGTTATCCAAACCAAGAGGCCTGTCTTCAATTTTCATGCAGATAAGCAGGAGGAGGGGGAATCACCCAACATCTGTAGAGAGCTGGACCACAGGAATAGAAACAGAATTGTTTAAGAGACCAATACCAAGCTAAATAGTTAGTGTAACCAGTGATGAAACAAAAATCACCACATCCATTAAGAAAGAACATTTATTTCATGTTTTTTGATCATGGTTCTGGAGAACTATTTAATGTATATTTTACCTGGAAAGACACTGTATAATTCAATTGTATATGAATTTCATATTGTATAATTTATTTGTATGTTTTCAAAGCTATAATACCATTGGGTTTTAAAGTATTTCATAAAGCTGTCTTACCAATCTTAGTTGATGAAGTAAAACGTATTGAAGGTATTATTGACTCTGTTGAAGCAAAGAGAACAAAACATACGGTTTTTACCTAAGAAAGACGTTTTTGATTTTTTTCAGACTTCTCTGGCTCCACTACCCTGCTACGTTTATCTGATTGAGCATCCTTCCCTCAAATATGCGACCACTCGTTCCATAGCCAAGTATCCTGTGGGTAAGTCATAGTTCCCACTGTCATAACTCAATAAAATATGTCCTAGCTGAAACTCAGAGAAATTTATTTTTTATCTTATTTTATTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTCCGATGGTGTGATCTCAGCTCACTGCAACCTCTACCTCTCTGGTTCAAGTGATTCTCCTGCCTCAAGCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCCTGTAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTAGCCAGGGCTGGCCTCAAACTCCTGACCTCAGGTGATGCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACTGCCTGGCCGAGAAAATTATTTTTAAAAAAACATTTACAGCTACCTTCCATATCCTTAGGCTTATAATTGTCAAGTAACAAGCAATTTAGCTCCAGGCAGGCTCTAATTGTACCGAATTTCCCCAATTTCACTGAGCAGCTTTCTGGTTTTGTTCATGTTCCCTTTGCTGTAATGCTTGGCCCTTCTATTTAGTCTGGCACAATTCTTCTCATTCTCAAGATTCAGTTCACCTGTCACCTCCTATAGAACTTTCCCTGACCCTCCTCTATAGCATTAATTACTCCAGAAATGTGTACATTTGACTAATATTTATAGTGTGCCTACCAGAGACCAACCCTGTGCTAGGTGCGGGGGACAGAACAATGAGCAAGACACACAGTCTCCCCTCAAACAGCTTCGTATGTGATGAGAAAACAGACAGGTAACCAGGTAATCACTGCACAGAGTGATAAATGCTAAATAGGGGCAATTACAGGAGACTGGAAGAGCAGGAAAGACCTAACCCAGTCTTGATGGATCACAGAAGGCCCAAAGAAGTGGGATCCATCTTGAGGTTGTGTATGTGTATGTGTTTGGGGGAGGAAAGGAAAAAAATTGAGAGCAGTCAACAGGATTCTAGACAAGTGTCTTGAAATTATCTGTGATGAAAGGCCATTGCTGATTTCCAATCTGCTATAGAGCAATACTTTTGTAAAATGTAATTTAAAAATGGATTTCTAGAAAAACGATCACATACTTGAATATTTTAGCAATGTCAAATTGCTATAAAAGTTTCTAAACACTTACTTTAATTTCTGTACATATCTCGCCTGGGACCAGCAGCAGACAATTGGTGGACCAGTCCCTGTCCTCAGACAATACTTTGAGGAAAAAGGAATATCATATACAAGGGCCCCAAACCCCTAACTGATGACATGCCATACTTGATACACTGTGTTCTCCATTTATCTTAGCACTCTCTGTTCCCTATCCCCTTCTGCAGGCTGATAATGTATGCTTACTAAATATTAGCTCAAATTACCAGTAAGTACACAATTCTAACTTATAAATGATCATCATTCACAGTAGGGTTTTGTTTTGTTTTTTTTCTGGAAAAGGGTCTCACTCTGTTGCCCAGGCTGAGTGTAGTGGCACGATCACAGTTCACTGCAGCCTTGACCTCCTGGGCTCAGGCAATCCTCCCATCTCAGCCTCCCAAGTAGCTTGAACTACAGGCACGTGCCACCACATTCAGCTAATTTTTTATTTTTTGTAGAGACAGGATCTCAGTATGATCAGGTCTCAAACTCCTGATTCAAGCGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCACACCTGTACCTCATTCACAGTTTTAATCACACCTATCCCACACAGACTTATACAAACTTATCCATTCCTTCCCATGCAGGTTCTATAACTATAACCATATATAAAATACTAGCCAACCAGGAGAATCGCTTGAACCCCGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCGGGGCAACAAAAGTGAAACTCCGTCTCAAAAAAACAAACAAACAAAAATACTAGCCATCTAACACTGGAAATACATACATTCATGAGCTTGTCCGGAGTGATCAGATTTGACTGGATCAGAAAGGCAAGGGATCTGTTTCTCCAAAGTGCTTG
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TATGTTTATATTATCTCAGGCACAGATGTTGTTCATCTTTTTCTTTCTGCTTATAACAGCAAAAAAATGTCAGAAGATTTGCCATATGAAGTGAGAAGGGCTCAAGAAATAAATCATTTATTTGGTCCAAAAGACAGTGAAGATTCCTATGACATTATTTTTGACCTTCACAACACCACCTCTAACATGGGGTGCACTCTTATTCTTGAGGATTCCAGGAATAACTTTTTAATTCAGATGTTTCATTACATTAAGGTAATGTTAATGTTATTAATTTATAAGTTAGCAAAGGACTTGTACTTTTAAGTCAATTATGGATGTGAGACAATCAGAAAACAGTTATGAGGGAAGGTGCAAGAGAAATGGGGTTTATTCCATAGCCAGGCTTGGTGGTTGGGGGGAAAGGGTGCTACCAGAACACAGAGGCAGTGGTGAGAGGAAGGAGAAAAAGAGAGGAAATAAGTAAAATAATAAACACAATTAATAAAGTAATAAAACACTTGTGGATTCTTGTGTCTATAAAATTACACGTTTTATCCAGACAGCCACCAGATGGTGGGGTATTTGTTAAAACCAAGTAAAATTAATATTAAAAGTTTAAATGGTATGGTCAATTTGTTAAAACCAAGTAAAATTAATATTAAAACTTTAAATGGTATGGGATCTCAATTACAAGGTTTTAGGAAACTTAAGAAATAGTCCTTTAACGTAGACTAAAGCCCAGTGATAAAAAGATTGCCTCCCTTTAGTCCTGCCCTCGTCCCCATTTGATTTAGACACCCCAGAATACGTCTAATCTTTCAGTACTTCATAATCATTTTAAGGCTCAGAAATCTCAGAGAAAATTTGCTAGAAAATAGCAACCAACCAGAAACACACATAAGGAACTGTATGCTTATTTCTGTGTACTAGATAGCCTTCCTTCCTGAGAGCAAGGATGATTGAGAGGAAAGAGTGTGGCCTGTGCTCAGATCCTGACTTTCTCCTTCACTAACCTTAGACAAAACACACCATTCCCAAAACCTTGCCTCCTTCATTTTATAAAATTGGTGTCATAACAAACAACACTTACCCATAAGGGTACTCAAAGCCTTAAATGACATAAAGTATTTAAAACATTTAGCCTCATACCTGGCCTATAGTAAAGATTATTATTTTTGTTTCCCTTCAGTTTTGGACAGTAACTGGGTAGTGGTCCTGGTAGGAGATCATAATGTAGCGATTCTTTTTTTTTTTAATTTTTTTTAAATTTTATTACTATTATACTTTAAGTTTTAGGGTACATGTGCACCATGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCCGCACCCATTAACTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCCACCCCAATTCTTCATTGCCTATTGAAGAGAGAGCGGAATGCTTTGGTTGCCAGATATGGAAGCAGAATTGCTGACACTTTGTTATCCAAACCAAGAGGCCTGTCTTCAATTTTCATGCAGATAAGCAGGAGGAGGGGGAATCACCCAACATCTGTAGAGAGCTGGACCACAGGAATAGAAACAGAATTGTTTAAGAGACCAATACCAAGCTAAATAGTTAGTGTAACCAGTGATGAAACAAAAATCACCACATCCATTAAGAAAGAACATTTATTTCATGTTTTTTGATCATGGTTCTGGAGAACTATTTAATGTATATTTTACCTGGAAAGACACTGTATAATTCAATTGTATATGAATTTCATATTGTATAATTTATTTGTATGTTTTCAAAGCTATAATACCATTGGGTTTTAAAGTATTTCATAAAGCTGTCTTACCAATCTTAGTTGATGAAGTAAAACGTATTGAAGGTATTATTGACTCTGTTGAAGCAAAGAGAACAAAACATACGGTTTTTACCTAAGAAAGACGTTTTTGATTTTTTTCAGACTTCTCTGGCTCCACTACCCTGCTACGTTTATCTGATTGAGCATCCTTCCCTCAAATATGCGACCACTCGTTCCATAGCCAAGTATCCTGTGAGTAAGTCATAGTTCCCACTGTCATAACTCAATAAAATATGTCCTAGCTGAAACTCAGAGAAATTTATTTTTTATCTTATTTTATTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTCCGATGGTGTGATCTCAGCTCACTGCAACCTCTACCTCTCTGGTTCAAGTGATTCTCCTGCCTCAAGCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCCTGTAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTAGCCAGGGCTGGCCTCAAACTCCTGACCTCAGGTGATGCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACTGCCTGGCCGAGAAAATTATTTTTAAAAAAACATTTACAGCTACCTTCCATATCCTTAGGCTTATAATTGTCAAGTAACAAGCAATTTAGCTCCAGGCAGGCTCTAATTGTACCGAATTTCCCCAATTTCACTGAGCAGCTTTCTGGTTTTGTTCATGTTCCCTTTGCTGTAATGCTTGGCCCTTCTATTTAGTCTGGCACAATTCTTCTCATTCTCAAGATTCAGTTCACCTGTCACCTCCTATAGAACTTTCCCTGACCCTCCTCTATAGCATTAATTACTCCAGAAATGTGTACATTTGACTAATATTTATAGTGTGCCTACCAGAGACCAACCCTGTGCTAGGTGCGGGGGACAGAACAATGAGCAAGACACACAGTCTCCCCTCAAACAGCTTCGTATGTGATGAGAAAACAGACAGGTAACCAGGTAATCACTGCACAGAGTGATAAATGCTAAATAGGGGCAATTACAGGAGACTGGAAGAGCAGGAAAGACCTAACCCAGTCTTGATGGATCACAGAAGGCCCAAAGAAGTGGGATCCATCTTGAGGTTGTGTATGTGTATGTGTTTGGGGGAGGAAAGGAAAAAAATTGAGAGCAGTCAACAGGATTCTAGACAAGTGTCTTGAAATTATCTGTGATGAAAGGCCATTGCTGATTTCCAATCTGCTATAGAGCAATACTTTTGTAAAATGTAATTTAAAAATGGATTTCTAGAAAAACGATCACATACTTGAATATTTTAGCAATGTCAAATTGCTATAAAAGTTTCTAAACACTTACTTTAATTTCTGTACATATCTCGCCTGGGACCAGCAGCAGACAATTGGTGGACCAGTCCCTGTCCTCAGACAATACTTTGAGGAAAAAGGAATATCATATACAAGGGCCCCAAACCCCTAACTGATGACATGCCATACTTGATACACTGTGTTCTCCATTTATCTTAGCACTCTCTGTTCCCTATCCCCTTCTGCAGGCTGATAATGTATGCTTACTAAATATTAGCTCAAATTACCAGTAAGTACACAATTCTAACTTATAAATGATCATCATTCACAGTAGGGTTTTGTTTTGTTTTTTTTCTGGAAAAGGGTCTCACTCTGTTGCCCAGGCTGAGTGTAGTGGCACGATCACAGTTCACTGCAGCCTTGACCTCCTGGGCTCAGGCAATCCTCCCATCTCAGCCTCCCAAGTAGCTTGAACTACAGGCACGTGCCACCACATTCAGCTAATTTTTTATTTTTTGTAGAGACAGGATCTCAGTATGATCAGGTCTCAAACTCCTGATTCAAGCGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCACACCTGTACCTCATTCACAGTTTTAATCACACCTATCCCACACAGACTTATACAAACTTATCCATTCCTTCCCATGCAGGTTCTATAACTATAACCATATATAAAATACTAGCCAACCAGGAGAATCGCTTGAACCCCGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCGGGGCAACAAAAGTGAAACTCCGTCTCAAAAAAACAAACAAACAAAAATACTAGCCATCTAACACTGGAAATACATACATTCATGAGCTTGTCCGGAGTGATCAGATTTGACTGGATCAGAAAGGCAAGGGATCTGTTTCTCCAAAGTGCTTG
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Task1_train_23211
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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?
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Pathogenic; Spongy degeneration of central nervous system
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GCAAAATTTGTATGCAGCAATATTCTTAGTGTATTATAAAATGTTGACTCAGAAAGATTGTCTCTCTAATGTTAAACATGCTTTTTTCCCAGTGAGTGCATGATATAAAATATTCCAAATAAAACAGCAAAGTTGGAAGGAGAACATATAACATTTCTAATTATTTACAATGAGCTTAATACTCCCTCATATTGAAATATTTTAAAGATTTGGCTCAACTTGTAAGGGCCAAACATATCAGCAATGTTTGTTCTGGCTAAGAGTAGCATTGCCTACAAATATCATAGCCTAAGATTGATATTTGAGAGTTTGGAAATCTTAAGCTTTTATTTGGTGTCACAGAGAAACAGGATCTGTATCTCTTATTGCTAAGCCTTTGATTTGTTTCAGCTAATTGCCTGTATTTGGATATTTAGCTTACTCTAATTCCTTACTTCAAGTATTGATACTTTTGTGCATAATAAAGATTCCTTCATTCTTAAATCATTGACTAGGGGATTATTATGATTGACTTAAACTATTCAACATTTACTCTTGAAATGGAGAGAAATTTACCTACCTTGAAGATTGGAAGCCCAACTAATATCAGGATTCTATTAGAAACAGGAGGAAAGTGAAATGGATTTGGGGTAGGCAAACGACAATGTATTCTATAGTATTCCTACAGACATATCTACAAACACACTTTTTCACATATTTGTGTAAGTCATTTATGCACAGATGCATACCTTAGCCACATTTATGACACCATATACTTAAATATATGTTCATACATATATGCAAGAAACCTAAGCACAACAAATAAAAAATGATGCAAGAGAATAAGATAAGATTTTGTGTATTGGGAAATAACAGAAGCGGGTGAAAACAAGATGAGTGTAAAAGAATGCAGTATGTTAATGGGATGGAAGAGAATGAGGGTAGTGCAGTTGGGGTAAATGGTTTGCCAAATAGAGAAGGTGATGACTGGGGAGATGACTTTGTGGGAGACTTGAACAGGAAGGAAGGGTCTACAAAAGTAGTTTAAAGAAAGAGTATTTTGTAGATGTAAGGATGGATGCTTAACAGCCACACAAAGTAGACCTAATAGTACAGGCATCATTTCATATGAGTTAGAAGAAATGAACACAAGTTTTTTCCTGCATAAAATTAAAACCAGGCCAAGCACGACGGCTCACGCCTGTAATCCCAGCATTTGGGGAAGCCGAGAAGGGCAGATTACCTGCGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGCCTCTACTAAAAATATAAAAATAAGCCAGGAATGGTGGCCCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCAGAAATCACACCACTGTACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCGAAAAAATAAATAAATAAATAAAACCATTGCACTATTGTGTTAGGATGGATTGCTAGGTTAAGGGCAAAATCATTGCTCAAGGGTCACATAGATTGTCATATTGACTGAAATCCATGATTCATCTAGTCTGGATTTCTGTGAAATCTATAAAAATAGATGTCCTTCCTCCCGTCACAGCTAAATGTTAGATCTTAACAGTTTCTCTTCAGGTCCACCTATTATTTTGTCAGCATAAACTTGTTCACCTTTTTTACTATGTTATGACTTTTAAATATTTTAGCAATACTGAAGGAAATTTAAAGAAAAAAGACCACAAGAGTTTCCTATTTCTAACACCACTGATTTTTTCCATGTTCTTTCCCAGTCTTTATTCACTATGCATCTAACTTAAACATGTAAATGTTCTGCTTCACGTTTTGCCAAACATTATGTCTCAAATATTTTCCATGATGCTACATGGTTTACCTTTTTAATAATTTTAACAACATAATTCTAAATCTTGATACATTAAAATGCTTAGTTTTATAATATATTTTCATACTTATATAAATGTGACTATCTCTCCTTCTGTACCTAGGTATAGAAGTTGGTCCTCAGCCTCAAGGGGTTCTGAGAGCTGATATCTTGGATCAAATGAGAAAAATGATTAAACATGCTCTTGATTTTATACATCATTTCAATGAAGGTAAGTAATAATGAAGGTAACGTTATCAAACTTAACCACCAAACATTTAAATAACAATTGGAACCTGGGTCAGATTTGCCATGCTAAAGATATGAAGTGCTTTTTAAAATTTTTATTCACTTCAGCTATTCCCCAATGGCCAGGATAGACACATTCAAGAAAAGCAGCTGCCAAATAAAGACTCCACATTAAATCCTTATTTCCTGCTAATCTCCATTTTAAAAAGAAAAGACGAGAAAATACAAATGCCCAGTAAACATATGAAAAGATGTTCAACATCACTAGTAATTAGAGAAATGCAAATTAAAATAAGAAGTCACTTCCCCCATTAAGTTGGGAAAATATTAAAGTCTGCAAATATCAAGCGTTGGTAAATGTGTAGGAAAAGGGGAAACTCTCATTACCTGCTGGTGAACATATAAGTGAACATATAAGTTGGTAAAGACATTTTAGAGGATAATCTTACAGCATCCACTTCTTAAAACACACCAATCTTATTACCCAGCGATTCCACATCTCAAAGAAACACAAGCACAAGCAACATGTTGTTTACAAAGATTGTTATCGTGCATCATTTATAACAGCAAAAGAATGGAAACAGCATGAATGTCCACCTGTTGGTGGAGAGTTAAATAAACTAACATGGAAGAATCTTCAAAACACAATGGTAATTAGCAGAAAGCAAGTTGCAGACCAAGACATTCAGTACACCAATTGGCTTTAAAATAACAATAATAATCATCACCTTCTAGGATACATATATATGTTAACACATCACAGGGAAAGTCCTAGAAGAAAACACACCAAACTGATAACAATAGTTACCGGGGACGGGAGGCAAAACCCAGGCTAATTTTGTCTTAATTATATTCAATAAGAATAATGTATTTATGTATTATTTCTGTAATTAAAAATTAATTAAACGGGGACTGGTGGACAAGGTGGGTATATGCAGCTCTATGCACTATCTGCTCATTTATTTGGTAAATCTAAAACTGCACTAAAAAGTCTATTAGTTATAAAAAAAGTTTACTTTAAAATGGAAAATAGTTGCTTAAAATCAAAGAGACATTCTATGTAAACAATTATTCCAACAGACTGAGTTGAAATTGTTGTTGAGGAATGGGCAATTATAATAACAGAGGGGGTGTGTACTTCGGTGTCTGTGGGGAGTGAATTCCTCAACCTCAGATCGTGCGCACCCCACTGCAATCACAGACATTCGTTTTGTGCTTGGGAATCCTTTGACTCCAAAATCATGAAAACTGAAAATTTGCTTTTTACCATCTTTGTCTGAGGGCAGGTTCTATACTGTCTAATGGAACTGGTTTTGAGAAGATCACAACATACTTACAATAAACCCTCTGAATAGGAAGTGTGGGACTACAATATATTAAGAAGTGATACATTCAGATAGAAGGCCACAAATCTGGGTGGAAAACGTGGTTGGTTTTCAGATCATAGTCCATAGAATCCTATCACAACGGTGGAGAAAAGCAGTTCCTGGAACACCCCACCCCTTAACCCCTTATCTCTGCTTCAACCAGAGCTCTTCTGTGTAACATTTCATTTAAGCAAAGGATTCGGCAAATCAAAAATTGTCAACCACGATTAATTTAGACTATCCAGCTTGGTGGATTTTCAACTGAGCACTCCTATCCACAGAATGCTGACAAATGAATCATAGCCGCCATGTGAAAAGTCTGAAGAAGTGTGTAGAAGGGCTTCATTCTTGACTCTGTCCTACTCAGAACTGTAGTTAGTGACTTGGATAAAGACATATGCGACATGCTTAGCTAAGTGACAGGTCTCAGGAAGATAGCAGGAAAACATCCTGGTTGAGAAGGCAGATCCAAGAAGTCCTGACAATCTTTAACAATTGTTTAAACCAAATGTTTAAGGTTAACAACATCAGGGACCAAAGTTTTGTTCTTATGTTTAAAAAAAATCCCAGAATAAGGGAGGTAATG
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GCAAAATTTGTATGCAGCAATATTCTTAGTGTATTATAAAATGTTGACTCAGAAAGATTGTCTCTCTAATGTTAAACATGCTTTTTTCCCAGTGAGTGCATGATATAAAATATTCCAAATAAAACAGCAAAGTTGGAAGGAGAACATATAACATTTCTAATTATTTACAATGAGCTTAATACTCCCTCATATTGAAATATTTTAAAGATTTGGCTCAACTTGTAAGGGCCAAACATATCAGCAATGTTTGTTCTGGCTAAGAGTAGCATTGCCTACAAATATCATAGCCTAAGATTGATATTTGAGAGTTTGGAAATCTTAAGCTTTTATTTGGTGTCACAGAGAAACAGGATCTGTATCTCTTATTGCTAAGCCTTTGATTTGTTTCAGCTAATTGCCTGTATTTGGATATTTAGCTTACTCTAATTCCTTACTTCAAGTATTGATACTTTTGTGCATAATAAAGATTCCTTCATTCTTAAATCATTGACTAGGGGATTATTATGATTGACTTAAACTATTCAACATTTACTCTTGAAATGGAGAGAAATTTACCTACCTTGAAGATTGGAAGCCCAACTAATATCAGGATTCTATTAGAAACAGGAGGAAAGTGAAATGGATTTGGGGTAGGCAAACGACAATGTATTCTATAGTATTCCTACAGACATATCTACAAACACACTTTTTCACATATTTGTGTAAGTCATTTATGCACAGATGCATACCTTAGCCACATTTATGACACCATATACTTAAATATATGTTCATACATATATGCAAGAAACCTAAGCACAACAAATAAAAAATGATGCAAGAGAATAAGATAAGATTTTGTGTATTGGGAAATAACAGAAGCGGGTGAAAACAAGATGAGTGTAAAAGAATGCAGTATGTTAATGGGATGGAAGAGAATGAGGGTAGTGCAGTTGGGGTAAATGGTTTGCCAAATAGAGAAGGTGATGACTGGGGAGATGACTTTGTGGGAGACTTGAACAGGAAGGAAGGGTCTACAAAAGTAGTTTAAAGAAAGAGTATTTTGTAGATGTAAGGATGGATGCTTAACAGCCACACAAAGTAGACCTAATAGTACAGGCATCATTTCATATGAGTTAGAAGAAATGAACACAAGTTTTTTCCTGCATAAAATTAAAACCAGGCCAAGCACGACGGCTCACGCCTGTAATCCCAGCATTTGGGGAAGCCGAGAAGGGCAGATTACCTGCGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGCCTCTACTAAAAATATAAAAATAAGCCAGGAATGGTGGCCCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCAGAAATCACACCACTGTACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCGAAAAAATAAATAAATAAATAAAACCATTGCACTATTGTGTTAGGATGGATTGCTAGGTTAAGGGCAAAATCATTGCTCAAGGGTCACATAGATTGTCATATTGACTGAAATCCATGATTCATCTAGTCTGGATTTCTGTGAAATCTATAAAAATAGATGTCCTTCCTCCCGTCACAGCTAAATGTTAGATCTTAACAGTTTCTCTTCAGGTCCACCTATTATTTTGTCAGCATAAACTTGTTCACCTTTTTTACTATGTTATGACTTTTAAATATTTTAGCAATACTGAAGGAAATTTAAAGAAAAAAGACCACAAGAGTTTCCTATTTCTAACACCACTGATTTTTTCCATGTTCTTTCCCAGTCTTTATTCACTATGCATCTAACTTAAACATGTAAATGTTCTGCTTCACGTTTTGCCAAACATTATGTCTCAAATATTTTCCATGATGCTACATGGTTTACCTTTTTAATAATTTTAACAACATAATTCTAAATCTTGATACATTAAAATGCTTAGTTTTATAATATATTTTCATACTTATATAAATGTGACTATCTCTCCTTCTGTACCTAGGTATAGAAGTTGGTCCTCAGCCTCAAGGGGATCTGAGAGCTGATATCTTGGATCAAATGAGAAAAATGATTAAACATGCTCTTGATTTTATACATCATTTCAATGAAGGTAAGTAATAATGAAGGTAACGTTATCAAACTTAACCACCAAACATTTAAATAACAATTGGAACCTGGGTCAGATTTGCCATGCTAAAGATATGAAGTGCTTTTTAAAATTTTTATTCACTTCAGCTATTCCCCAATGGCCAGGATAGACACATTCAAGAAAAGCAGCTGCCAAATAAAGACTCCACATTAAATCCTTATTTCCTGCTAATCTCCATTTTAAAAAGAAAAGACGAGAAAATACAAATGCCCAGTAAACATATGAAAAGATGTTCAACATCACTAGTAATTAGAGAAATGCAAATTAAAATAAGAAGTCACTTCCCCCATTAAGTTGGGAAAATATTAAAGTCTGCAAATATCAAGCGTTGGTAAATGTGTAGGAAAAGGGGAAACTCTCATTACCTGCTGGTGAACATATAAGTGAACATATAAGTTGGTAAAGACATTTTAGAGGATAATCTTACAGCATCCACTTCTTAAAACACACCAATCTTATTACCCAGCGATTCCACATCTCAAAGAAACACAAGCACAAGCAACATGTTGTTTACAAAGATTGTTATCGTGCATCATTTATAACAGCAAAAGAATGGAAACAGCATGAATGTCCACCTGTTGGTGGAGAGTTAAATAAACTAACATGGAAGAATCTTCAAAACACAATGGTAATTAGCAGAAAGCAAGTTGCAGACCAAGACATTCAGTACACCAATTGGCTTTAAAATAACAATAATAATCATCACCTTCTAGGATACATATATATGTTAACACATCACAGGGAAAGTCCTAGAAGAAAACACACCAAACTGATAACAATAGTTACCGGGGACGGGAGGCAAAACCCAGGCTAATTTTGTCTTAATTATATTCAATAAGAATAATGTATTTATGTATTATTTCTGTAATTAAAAATTAATTAAACGGGGACTGGTGGACAAGGTGGGTATATGCAGCTCTATGCACTATCTGCTCATTTATTTGGTAAATCTAAAACTGCACTAAAAAGTCTATTAGTTATAAAAAAAGTTTACTTTAAAATGGAAAATAGTTGCTTAAAATCAAAGAGACATTCTATGTAAACAATTATTCCAACAGACTGAGTTGAAATTGTTGTTGAGGAATGGGCAATTATAATAACAGAGGGGGTGTGTACTTCGGTGTCTGTGGGGAGTGAATTCCTCAACCTCAGATCGTGCGCACCCCACTGCAATCACAGACATTCGTTTTGTGCTTGGGAATCCTTTGACTCCAAAATCATGAAAACTGAAAATTTGCTTTTTACCATCTTTGTCTGAGGGCAGGTTCTATACTGTCTAATGGAACTGGTTTTGAGAAGATCACAACATACTTACAATAAACCCTCTGAATAGGAAGTGTGGGACTACAATATATTAAGAAGTGATACATTCAGATAGAAGGCCACAAATCTGGGTGGAAAACGTGGTTGGTTTTCAGATCATAGTCCATAGAATCCTATCACAACGGTGGAGAAAAGCAGTTCCTGGAACACCCCACCCCTTAACCCCTTATCTCTGCTTCAACCAGAGCTCTTCTGTGTAACATTTCATTTAAGCAAAGGATTCGGCAAATCAAAAATTGTCAACCACGATTAATTTAGACTATCCAGCTTGGTGGATTTTCAACTGAGCACTCCTATCCACAGAATGCTGACAAATGAATCATAGCCGCCATGTGAAAAGTCTGAAGAAGTGTGTAGAAGGGCTTCATTCTTGACTCTGTCCTACTCAGAACTGTAGTTAGTGACTTGGATAAAGACATATGCGACATGCTTAGCTAAGTGACAGGTCTCAGGAAGATAGCAGGAAAACATCCTGGTTGAGAAGGCAGATCCAAGAAGTCCTGACAATCTTTAACAATTGTTTAAACCAAATGTTTAAGGTTAACAACATCAGGGACCAAAGTTTTGTTCTTATGTTTAAAAAAAATCCCAGAATAAGGGAGGTAATG
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Task1_train_23212
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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?
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Pathogenic; Spongy degeneration of central nervous system
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AAGATTGTCTCTCTAATGTTAAACATGCTTTTTTCCCAGTGAGTGCATGATATAAAATATTCCAAATAAAACAGCAAAGTTGGAAGGAGAACATATAACATTTCTAATTATTTACAATGAGCTTAATACTCCCTCATATTGAAATATTTTAAAGATTTGGCTCAACTTGTAAGGGCCAAACATATCAGCAATGTTTGTTCTGGCTAAGAGTAGCATTGCCTACAAATATCATAGCCTAAGATTGATATTTGAGAGTTTGGAAATCTTAAGCTTTTATTTGGTGTCACAGAGAAACAGGATCTGTATCTCTTATTGCTAAGCCTTTGATTTGTTTCAGCTAATTGCCTGTATTTGGATATTTAGCTTACTCTAATTCCTTACTTCAAGTATTGATACTTTTGTGCATAATAAAGATTCCTTCATTCTTAAATCATTGACTAGGGGATTATTATGATTGACTTAAACTATTCAACATTTACTCTTGAAATGGAGAGAAATTTACCTACCTTGAAGATTGGAAGCCCAACTAATATCAGGATTCTATTAGAAACAGGAGGAAAGTGAAATGGATTTGGGGTAGGCAAACGACAATGTATTCTATAGTATTCCTACAGACATATCTACAAACACACTTTTTCACATATTTGTGTAAGTCATTTATGCACAGATGCATACCTTAGCCACATTTATGACACCATATACTTAAATATATGTTCATACATATATGCAAGAAACCTAAGCACAACAAATAAAAAATGATGCAAGAGAATAAGATAAGATTTTGTGTATTGGGAAATAACAGAAGCGGGTGAAAACAAGATGAGTGTAAAAGAATGCAGTATGTTAATGGGATGGAAGAGAATGAGGGTAGTGCAGTTGGGGTAAATGGTTTGCCAAATAGAGAAGGTGATGACTGGGGAGATGACTTTGTGGGAGACTTGAACAGGAAGGAAGGGTCTACAAAAGTAGTTTAAAGAAAGAGTATTTTGTAGATGTAAGGATGGATGCTTAACAGCCACACAAAGTAGACCTAATAGTACAGGCATCATTTCATATGAGTTAGAAGAAATGAACACAAGTTTTTTCCTGCATAAAATTAAAACCAGGCCAAGCACGACGGCTCACGCCTGTAATCCCAGCATTTGGGGAAGCCGAGAAGGGCAGATTACCTGCGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGCCTCTACTAAAAATATAAAAATAAGCCAGGAATGGTGGCCCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCAGAAATCACACCACTGTACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCGAAAAAATAAATAAATAAATAAAACCATTGCACTATTGTGTTAGGATGGATTGCTAGGTTAAGGGCAAAATCATTGCTCAAGGGTCACATAGATTGTCATATTGACTGAAATCCATGATTCATCTAGTCTGGATTTCTGTGAAATCTATAAAAATAGATGTCCTTCCTCCCGTCACAGCTAAATGTTAGATCTTAACAGTTTCTCTTCAGGTCCACCTATTATTTTGTCAGCATAAACTTGTTCACCTTTTTTACTATGTTATGACTTTTAAATATTTTAGCAATACTGAAGGAAATTTAAAGAAAAAAGACCACAAGAGTTTCCTATTTCTAACACCACTGATTTTTTCCATGTTCTTTCCCAGTCTTTATTCACTATGCATCTAACTTAAACATGTAAATGTTCTGCTTCACGTTTTGCCAAACATTATGTCTCAAATATTTTCCATGATGCTACATGGTTTACCTTTTTAATAATTTTAACAACATAATTCTAAATCTTGATACATTAAAATGCTTAGTTTTATAATATATTTTCATACTTATATAAATGTGACTATCTCTCCTTCTGTACCTAGGTATAGAAGTTGGTCCTCAGCCTCAAGGGGTTCTGAGAGCTGATATCTTGGATCAAATGAGAAAAATGATTAAACATGCTCTTGATTTTATACATCATTTCAATGAAGGTAAGTAATAATGAAGGTAACGTTATCAAACTTAACCACCAAACATTTAAATAACAATTGGAACCTGGGTCAGATTTGCCATGCTAAAGATATGAAGTGCTTTTTAAAATTTTTATTCACTTCAGCTATTCCCCAATGGCCAGGATAGACACATTCAAGAAAAGCAGCTGCCAAATAAAGACTCCACATTAAATCCTTATTTCCTGCTAATCTCCATTTTAAAAAGAAAAGACGAGAAAATACAAATGCCCAGTAAACATATGAAAAGATGTTCAACATCACTAGTAATTAGAGAAATGCAAATTAAAATAAGAAGTCACTTCCCCCATTAAGTTGGGAAAATATTAAAGTCTGCAAATATCAAGCGTTGGTAAATGTGTAGGAAAAGGGGAAACTCTCATTACCTGCTGGTGAACATATAAGTGAACATATAAGTTGGTAAAGACATTTTAGAGGATAATCTTACAGCATCCACTTCTTAAAACACACCAATCTTATTACCCAGCGATTCCACATCTCAAAGAAACACAAGCACAAGCAACATGTTGTTTACAAAGATTGTTATCGTGCATCATTTATAACAGCAAAAGAATGGAAACAGCATGAATGTCCACCTGTTGGTGGAGAGTTAAATAAACTAACATGGAAGAATCTTCAAAACACAATGGTAATTAGCAGAAAGCAAGTTGCAGACCAAGACATTCAGTACACCAATTGGCTTTAAAATAACAATAATAATCATCACCTTCTAGGATACATATATATGTTAACACATCACAGGGAAAGTCCTAGAAGAAAACACACCAAACTGATAACAATAGTTACCGGGGACGGGAGGCAAAACCCAGGCTAATTTTGTCTTAATTATATTCAATAAGAATAATGTATTTATGTATTATTTCTGTAATTAAAAATTAATTAAACGGGGACTGGTGGACAAGGTGGGTATATGCAGCTCTATGCACTATCTGCTCATTTATTTGGTAAATCTAAAACTGCACTAAAAAGTCTATTAGTTATAAAAAAAGTTTACTTTAAAATGGAAAATAGTTGCTTAAAATCAAAGAGACATTCTATGTAAACAATTATTCCAACAGACTGAGTTGAAATTGTTGTTGAGGAATGGGCAATTATAATAACAGAGGGGGTGTGTACTTCGGTGTCTGTGGGGAGTGAATTCCTCAACCTCAGATCGTGCGCACCCCACTGCAATCACAGACATTCGTTTTGTGCTTGGGAATCCTTTGACTCCAAAATCATGAAAACTGAAAATTTGCTTTTTACCATCTTTGTCTGAGGGCAGGTTCTATACTGTCTAATGGAACTGGTTTTGAGAAGATCACAACATACTTACAATAAACCCTCTGAATAGGAAGTGTGGGACTACAATATATTAAGAAGTGATACATTCAGATAGAAGGCCACAAATCTGGGTGGAAAACGTGGTTGGTTTTCAGATCATAGTCCATAGAATCCTATCACAACGGTGGAGAAAAGCAGTTCCTGGAACACCCCACCCCTTAACCCCTTATCTCTGCTTCAACCAGAGCTCTTCTGTGTAACATTTCATTTAAGCAAAGGATTCGGCAAATCAAAAATTGTCAACCACGATTAATTTAGACTATCCAGCTTGGTGGATTTTCAACTGAGCACTCCTATCCACAGAATGCTGACAAATGAATCATAGCCGCCATGTGAAAAGTCTGAAGAAGTGTGTAGAAGGGCTTCATTCTTGACTCTGTCCTACTCAGAACTGTAGTTAGTGACTTGGATAAAGACATATGCGACATGCTTAGCTAAGTGACAGGTCTCAGGAAGATAGCAGGAAAACATCCTGGTTGAGAAGGCAGATCCAAGAAGTCCTGACAATCTTTAACAATTGTTTAAACCAAATGTTTAAGGTTAACAACATCAGGGACCAAAGTTTTGTTCTTATGTTTAAAAAAAATCCCAGAATAAGGGAGGTAATGGTCTTTTTTTTCTGCCTTGAATAAACAACACTTGAGAACTGTAAATAAATTCT
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AAGATTGTCTCTCTAATGTTAAACATGCTTTTTTCCCAGTGAGTGCATGATATAAAATATTCCAAATAAAACAGCAAAGTTGGAAGGAGAACATATAACATTTCTAATTATTTACAATGAGCTTAATACTCCCTCATATTGAAATATTTTAAAGATTTGGCTCAACTTGTAAGGGCCAAACATATCAGCAATGTTTGTTCTGGCTAAGAGTAGCATTGCCTACAAATATCATAGCCTAAGATTGATATTTGAGAGTTTGGAAATCTTAAGCTTTTATTTGGTGTCACAGAGAAACAGGATCTGTATCTCTTATTGCTAAGCCTTTGATTTGTTTCAGCTAATTGCCTGTATTTGGATATTTAGCTTACTCTAATTCCTTACTTCAAGTATTGATACTTTTGTGCATAATAAAGATTCCTTCATTCTTAAATCATTGACTAGGGGATTATTATGATTGACTTAAACTATTCAACATTTACTCTTGAAATGGAGAGAAATTTACCTACCTTGAAGATTGGAAGCCCAACTAATATCAGGATTCTATTAGAAACAGGAGGAAAGTGAAATGGATTTGGGGTAGGCAAACGACAATGTATTCTATAGTATTCCTACAGACATATCTACAAACACACTTTTTCACATATTTGTGTAAGTCATTTATGCACAGATGCATACCTTAGCCACATTTATGACACCATATACTTAAATATATGTTCATACATATATGCAAGAAACCTAAGCACAACAAATAAAAAATGATGCAAGAGAATAAGATAAGATTTTGTGTATTGGGAAATAACAGAAGCGGGTGAAAACAAGATGAGTGTAAAAGAATGCAGTATGTTAATGGGATGGAAGAGAATGAGGGTAGTGCAGTTGGGGTAAATGGTTTGCCAAATAGAGAAGGTGATGACTGGGGAGATGACTTTGTGGGAGACTTGAACAGGAAGGAAGGGTCTACAAAAGTAGTTTAAAGAAAGAGTATTTTGTAGATGTAAGGATGGATGCTTAACAGCCACACAAAGTAGACCTAATAGTACAGGCATCATTTCATATGAGTTAGAAGAAATGAACACAAGTTTTTTCCTGCATAAAATTAAAACCAGGCCAAGCACGACGGCTCACGCCTGTAATCCCAGCATTTGGGGAAGCCGAGAAGGGCAGATTACCTGCGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGCCTCTACTAAAAATATAAAAATAAGCCAGGAATGGTGGCCCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCAGAAATCACACCACTGTACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCGAAAAAATAAATAAATAAATAAAACCATTGCACTATTGTGTTAGGATGGATTGCTAGGTTAAGGGCAAAATCATTGCTCAAGGGTCACATAGATTGTCATATTGACTGAAATCCATGATTCATCTAGTCTGGATTTCTGTGAAATCTATAAAAATAGATGTCCTTCCTCCCGTCACAGCTAAATGTTAGATCTTAACAGTTTCTCTTCAGGTCCACCTATTATTTTGTCAGCATAAACTTGTTCACCTTTTTTACTATGTTATGACTTTTAAATATTTTAGCAATACTGAAGGAAATTTAAAGAAAAAAGACCACAAGAGTTTCCTATTTCTAACACCACTGATTTTTTCCATGTTCTTTCCCAGTCTTTATTCACTATGCATCTAACTTAAACATGTAAATGTTCTGCTTCACGTTTTGCCAAACATTATGTCTCAAATATTTTCCATGATGCTACATGGTTTACCTTTTTAATAATTTTAACAACATAATTCTAAATCTTGATACATTAAAATGCTTAGTTTTATAATATATTTTCATACTTATATAAATGTGACTATCTCTCCTTCTGTACCTAGGTATAGAAGTTGGTCCTCAGCCTCAAGGGGTTCTGAGAGCTGATATCTTGGATCAAATGAGAAAAATGATTAAACATGCTCTTCATTTTATACATCATTTCAATGAAGGTAAGTAATAATGAAGGTAACGTTATCAAACTTAACCACCAAACATTTAAATAACAATTGGAACCTGGGTCAGATTTGCCATGCTAAAGATATGAAGTGCTTTTTAAAATTTTTATTCACTTCAGCTATTCCCCAATGGCCAGGATAGACACATTCAAGAAAAGCAGCTGCCAAATAAAGACTCCACATTAAATCCTTATTTCCTGCTAATCTCCATTTTAAAAAGAAAAGACGAGAAAATACAAATGCCCAGTAAACATATGAAAAGATGTTCAACATCACTAGTAATTAGAGAAATGCAAATTAAAATAAGAAGTCACTTCCCCCATTAAGTTGGGAAAATATTAAAGTCTGCAAATATCAAGCGTTGGTAAATGTGTAGGAAAAGGGGAAACTCTCATTACCTGCTGGTGAACATATAAGTGAACATATAAGTTGGTAAAGACATTTTAGAGGATAATCTTACAGCATCCACTTCTTAAAACACACCAATCTTATTACCCAGCGATTCCACATCTCAAAGAAACACAAGCACAAGCAACATGTTGTTTACAAAGATTGTTATCGTGCATCATTTATAACAGCAAAAGAATGGAAACAGCATGAATGTCCACCTGTTGGTGGAGAGTTAAATAAACTAACATGGAAGAATCTTCAAAACACAATGGTAATTAGCAGAAAGCAAGTTGCAGACCAAGACATTCAGTACACCAATTGGCTTTAAAATAACAATAATAATCATCACCTTCTAGGATACATATATATGTTAACACATCACAGGGAAAGTCCTAGAAGAAAACACACCAAACTGATAACAATAGTTACCGGGGACGGGAGGCAAAACCCAGGCTAATTTTGTCTTAATTATATTCAATAAGAATAATGTATTTATGTATTATTTCTGTAATTAAAAATTAATTAAACGGGGACTGGTGGACAAGGTGGGTATATGCAGCTCTATGCACTATCTGCTCATTTATTTGGTAAATCTAAAACTGCACTAAAAAGTCTATTAGTTATAAAAAAAGTTTACTTTAAAATGGAAAATAGTTGCTTAAAATCAAAGAGACATTCTATGTAAACAATTATTCCAACAGACTGAGTTGAAATTGTTGTTGAGGAATGGGCAATTATAATAACAGAGGGGGTGTGTACTTCGGTGTCTGTGGGGAGTGAATTCCTCAACCTCAGATCGTGCGCACCCCACTGCAATCACAGACATTCGTTTTGTGCTTGGGAATCCTTTGACTCCAAAATCATGAAAACTGAAAATTTGCTTTTTACCATCTTTGTCTGAGGGCAGGTTCTATACTGTCTAATGGAACTGGTTTTGAGAAGATCACAACATACTTACAATAAACCCTCTGAATAGGAAGTGTGGGACTACAATATATTAAGAAGTGATACATTCAGATAGAAGGCCACAAATCTGGGTGGAAAACGTGGTTGGTTTTCAGATCATAGTCCATAGAATCCTATCACAACGGTGGAGAAAAGCAGTTCCTGGAACACCCCACCCCTTAACCCCTTATCTCTGCTTCAACCAGAGCTCTTCTGTGTAACATTTCATTTAAGCAAAGGATTCGGCAAATCAAAAATTGTCAACCACGATTAATTTAGACTATCCAGCTTGGTGGATTTTCAACTGAGCACTCCTATCCACAGAATGCTGACAAATGAATCATAGCCGCCATGTGAAAAGTCTGAAGAAGTGTGTAGAAGGGCTTCATTCTTGACTCTGTCCTACTCAGAACTGTAGTTAGTGACTTGGATAAAGACATATGCGACATGCTTAGCTAAGTGACAGGTCTCAGGAAGATAGCAGGAAAACATCCTGGTTGAGAAGGCAGATCCAAGAAGTCCTGACAATCTTTAACAATTGTTTAAACCAAATGTTTAAGGTTAACAACATCAGGGACCAAAGTTTTGTTCTTATGTTTAAAAAAAATCCCAGAATAAGGGAGGTAATGGTCTTTTTTTTCTGCCTTGAATAAACAACACTTGAGAACTGTAAATAAATTCT
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Task1_train_23213
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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?
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Pathogenic; Spongy degeneration of central nervous system
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TGTGTTCTATCAGTTTTTACTTTCTTCCTATCCAACTTTTTGGTTTAAAGAAATGAGATCTGGTAAGTTCCCATCTTCATCTTGGAAGGTGTGGTAGATTTTAATTCTTCCCTTTCCCGCGTCCACATCCTGGCAGTGTGATGTTTCATATCCTTCTGTTCAGAGATAGAGTCTATTTTTCCACTTCTGGAATAGCTGGCTTGCCCATGTGAATTGTTTTGTGCCATAGAAGAGGCTTGAAAAGCACTTGCACATTGGAGCTTGCTCTCTTCCTGCTCTTGGAAACCCTGTACGTGTACCATTATGTACAACAGCCCACATTGGCCTGCTGGATAATGAAAGCCTTTGAGGTGGAAAACTCAGGCACCCTAACAGACAGAGTCATGCAACTCCAGCTGACAGCCCATCAGACATAACAGTAAGGCCATCCCATAGGATCCAGCCTCCAGGTGAGCTGTCAGCTTACCACAAAGGCAGGAGCAAAACAATAAAAAAAATCCACAAAGCCAGTGTAGACGGAAGAAACTTTCCAACCAACCCACAGAATCATGAACTAAATTAGGAGGTGGTTGTTTGAAGCCACTAAATTCTGGGGTAGTATGTTATGCAGCAGAAGCTAACTGATACAGAAGTGATCACTGGGCATACCCATTCTAACTCTGCTCTAAAAGCAAAGGAAGGCTTTCCTTTGAGTTGTGACCATAACACGCTGTGGGCCCTACATTGGACCAAACGTTCATCCTGTTTGCTCAGAGATAGCCTGGTATATGCATAAACTACTCCTTTTCCAAGTTTCTGGGAATTGGGTTGAGGTTGCTGCATCTTTGGAAGTTGGTCTCCACCACTGGCAGGCTGCCTGCATCACAAGATCTCATTACTCAGGAGCTGTCCAAGTGTCTAATGTACTTAGTTAAGAAAAAGAGGCTGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTGGGGAGGCTGAGGCGGGCGGATCACAAGGTCAAGAAATCGAGACCATCCTGGCCAACATGGTGAGACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGCATGCCCATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGACCACGCCACTGCACTCCAGCCTGGGTGAAAGAGCGAGGTTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGGAAAGAAAAAGAGCACGATACTGAAGTCACCTCAGTTGCTGGAACTCCTCCTGAAAATATGCAGTCATAAAACATCATAGCTGGAAGGGTCCTCCAAGATAAGCTAATCCAATACCTTCATTTGACAGGTCAAGAAAGCGAGCCTCAAGAAGTTAAGCATCTTGTTCAAGGCCGCATAGCCAGGGGATTAGAGCCCAGGTCTCCTGACCCCTAAACCTAGATTCTTTTTCTCTCAAACTGGCTTTTTCAGTTCTGTTTTCTACCTCTGGCCGTCGGCGTGTTTGTGGACAGAGTGCTGATAGGAATCATTCAAGGACATCTTTTGGCCTAGTGCTGTTTATGAACATCCTTAACTAAACGTTATCTGTTCTCCCCATAGCTGTCTTCATTTTGTTATTGTTGCTGTTGTTATTATTGTTTCTTCCTTACATTGTTAACTTCCCTTTTTCCAGATTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCCCAGGTTGGAGTGCAATGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAACTAGGATAATCCCAACCTGGGTATTTTTAGTGGAGATGGGGTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGACCTCAGGTGATCCACCCAACTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACCACACCCGGCCCAGAGATGTTTTTAGTTGCCATTGATACATATTGTTTTTGTCATAGGAAAAGAATTTCCTCCCTGCGCCATTGAGGTCTATAAAATTATAGAGAAAGTTGATTACCCCCGGGATGAAAATGGAGAAATTGCTGCTATCATCCATCCTAATCTGCAGGTAACATTTGTTCTTTCTTTAAAATGTTGAAAATAATAATGCTGTACCTTTGAATAGAAGTTTATAGCTCATACAGCACTTCGCGTACATTCGCCCATTTGATGCTCTCATTAGACACTGAGTGTAGATAGGGAAGATGTTCGGACTGTCGCTCAATAAATACTTATTCAGTGTAACCTGTGCTGGCTGTGTGGACACACCAGTAAGTATGGCCTGCACGCTCAATGGAATTTATAGTGTAGGTACACAAAAGTCTAACTTTAGTCTAGAAATGAAGACAGCCAGATGAGATGACAGAATAATGAGATGGGAGAGGAGTGGTCAGACAAGGCCACTTAGAGAAAGTGAAACTCCTACCCACATTCAGCGGGTGGGAATTATGATGTCTATTTTAATATAAGGAAATACAGGGACGGAAGTTAGAACCTTCCCACAGCCATGTAGCTATCAATGACAGATCCAGAGTTAGTGCTCTTTCAAGTTGGCCGCATCACTTGCTACCTCCCTGTGACAGAATAAGTTAGAGAAAAACGACTGGAACCTCTTTCTTCTGCCACCATTCCCCAACTCTCCTCAGAACCCCCAGAATCTACTCCTTGCCTAGTTTTATCAATAATGACATAGTGAAGAAGGAAAAAAAAAAGGCTCTTGAGAGAATGTAGGAGGTTTAAATCCGGAAAAGGCAAAGGGAAAAGGAGAGAAGAACAGATTTCCAAAGCCAAAGTATCCATTCCCCAGTGCAAGTGGCCTGCACACTCCCAGACCTCAGAGATGGAAGAGAACTGGTGGATTATCTAGTCCAGGGCTTTCAACCCCGACTAACCTTTACCTAGAGAGCTTTTAAAAAACATCATAATAGCAATGGCAGGACTCCACTCTGAGATACTCTGATCTTTTTGGCTTGGATAATCAGGATTGAAAAACACTGATTGATCCAGTTCCTATCCCTGTTTAGTGACTCTAATAGTCATCCAGACTTGCAACTGAATGAAGTGGCCTGCCCAGTAATACAGACGAGTGAAGCAAATCCTGCTTTGTGGCTTAATGGGACCCAGGTGGAAACCTGAAGAAGCAGCCTTAGGCAGTGTTTGTTTTTGTTTTTGTTTTTGTTTTTGTTTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAAGCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCTCACGTCACCACACCCGGCTAACTTTTGTATTTTTAGTGGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCCTGACATCATGATCCACCTGCCTCGGCCTCCCAAAGTGGTGGGATTACAGGCATGAGCCACCTTGCCCAGCCTTAAGCAGTGTTTTAAAGGAAAGGTAAAGACTGGGGGAGAGAAAGGAAGAAAGCACTATTGGTGACAAAAATATCAAGTACAAGAAACAGAGGCCAAGGTGATGATATCATGGCAGGCTAAAACAGGATTTTTCAGGTTTTAGGATACTCTTGAGGAGTACAAAAATAATCCCAGGCAGACGGAGAAGTGAGATGAATGAGATCAGTAGCAAACTGGGCTAGTGGTAGGTCTCGAAAGTTAGGAAGGATGGTTTTGATTTGACAGACAATAATGAATGGCTCAGTATTCTACAGGAGGGATTGATTGGTTAATTCTGCCAACAAATATTTTTGAATGACAACTAAGCTCATTCTGGGCCTTGAGATTCAAGATAGGGAAGGTTCCTCATGGAGCTTCCATCCCAATGGGTGAGGAGAACTGACCATGAATAAGTAAACAATATGTAAACCAAATCATTTCAAACTGTAATAAGTGCTGTAAAAGAAATACACAAAATAATATAGCAGAGGGTATAACAAAGGGTTCCAATTAGACGGAGTGGTCACAAAGTGCCATCTCAGAGATGGTGGCACTGAAGTTGGAACCTA
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TGTGTTCTATCAGTTTTTACTTTCTTCCTATCCAACTTTTTGGTTTAAAGAAATGAGATCTGGTAAGTTCCCATCTTCATCTTGGAAGGTGTGGTAGATTTTAATTCTTCCCTTTCCCGCGTCCACATCCTGGCAGTGTGATGTTTCATATCCTTCTGTTCAGAGATAGAGTCTATTTTTCCACTTCTGGAATAGCTGGCTTGCCCATGTGAATTGTTTTGTGCCATAGAAGAGGCTTGAAAAGCACTTGCACATTGGAGCTTGCTCTCTTCCTGCTCTTGGAAACCCTGTACGTGTACCATTATGTACAACAGCCCACATTGGCCTGCTGGATAATGAAAGCCTTTGAGGTGGAAAACTCAGGCACCCTAACAGACAGAGTCATGCAACTCCAGCTGACAGCCCATCAGACATAACAGTAAGGCCATCCCATAGGATCCAGCCTCCAGGTGAGCTGTCAGCTTACCACAAAGGCAGGAGCAAAACAATAAAAAAAATCCACAAAGCCAGTGTAGACGGAAGAAACTTTCCAACCAACCCACAGAATCATGAACTAAATTAGGAGGTGGTTGTTTGAAGCCACTAAATTCTGGGGTAGTATGTTATGCAGCAGAAGCTAACTGATACAGAAGTGATCACTGGGCATACCCATTCTAACTCTGCTCTAAAAGCAAAGGAAGGCTTTCCTTTGAGTTGTGACCATAACACGCTGTGGGCCCTACATTGGACCAAACGTTCATCCTGTTTGCTCAGAGATAGCCTGGTATATGCATAAACTACTCCTTTTCCAAGTTTCTGGGAATTGGGTTGAGGTTGCTGCATCTTTGGAAGTTGGTCTCCACCACTGGCAGGCTGCCTGCATCACAAGATCTCATTACTCAGGAGCTGTCCAAGTGTCTAATGTACTTAGTTAAGAAAAAGAGGCTGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTGGGGAGGCTGAGGCGGGCGGATCACAAGGTCAAGAAATCGAGACCATCCTGGCCAACATGGTGAGACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGCATGCCCATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGACCACGCCACTGCACTCCAGCCTGGGTGAAAGAGCGAGGTTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGGAAAGAAAAAGAGCACGATACTGAAGTCACCTCAGTTGCTGGAACTCCTCCTGAAAATATGCAGTCATAAAACATCATAGCTGGAAGGGTCCTCCAAGATAAGCTAATCCAATACCTTCATTTGACAGGTCAAGAAAGCGAGCCTCAAGAAGTTAAGCATCTTGTTCAAGGCCGCATAGCCAGGGGATTAGAGCCCAGGTCTCCTGACCCCTAAACCTAGATTCTTTTTCTCTCAAACTGGCTTTTTCAGTTCTGTTTTCTACCTCTGGCCGTCGGCGTGTTTGTGGACAGAGTGCTGATAGGAATCATTCAAGGACATCTTTTGGCCTAGTGCTGTTTATGAACATCCTTAACTAAACGTTATCTGTTCTCCCCATAGCTGTCTTCATTTTGTTATTGTTGCTGTTGTTATTATTGTTTCTTCCTTACATTGTTAACTTCCCTTTTTCCAGATTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCCCAGGTTGGAGTGCAATGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAACTAGGATAATCCCAACCTGGGTATTTTTAGTGGAGATGGGGTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGACCTCAGGTGATCCACCCAACTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACCACACCCGGCCCAGAGATGTTTTTAGTTGCCATTGATACATATTGTTTTTGTCATAGGAAAAGAATTTCCTCCCTGCGCCATTGAGGTCTATAAAATTATAGAGAAAGTTGATTGCCCCCGGGATGAAAATGGAGAAATTGCTGCTATCATCCATCCTAATCTGCAGGTAACATTTGTTCTTTCTTTAAAATGTTGAAAATAATAATGCTGTACCTTTGAATAGAAGTTTATAGCTCATACAGCACTTCGCGTACATTCGCCCATTTGATGCTCTCATTAGACACTGAGTGTAGATAGGGAAGATGTTCGGACTGTCGCTCAATAAATACTTATTCAGTGTAACCTGTGCTGGCTGTGTGGACACACCAGTAAGTATGGCCTGCACGCTCAATGGAATTTATAGTGTAGGTACACAAAAGTCTAACTTTAGTCTAGAAATGAAGACAGCCAGATGAGATGACAGAATAATGAGATGGGAGAGGAGTGGTCAGACAAGGCCACTTAGAGAAAGTGAAACTCCTACCCACATTCAGCGGGTGGGAATTATGATGTCTATTTTAATATAAGGAAATACAGGGACGGAAGTTAGAACCTTCCCACAGCCATGTAGCTATCAATGACAGATCCAGAGTTAGTGCTCTTTCAAGTTGGCCGCATCACTTGCTACCTCCCTGTGACAGAATAAGTTAGAGAAAAACGACTGGAACCTCTTTCTTCTGCCACCATTCCCCAACTCTCCTCAGAACCCCCAGAATCTACTCCTTGCCTAGTTTTATCAATAATGACATAGTGAAGAAGGAAAAAAAAAAGGCTCTTGAGAGAATGTAGGAGGTTTAAATCCGGAAAAGGCAAAGGGAAAAGGAGAGAAGAACAGATTTCCAAAGCCAAAGTATCCATTCCCCAGTGCAAGTGGCCTGCACACTCCCAGACCTCAGAGATGGAAGAGAACTGGTGGATTATCTAGTCCAGGGCTTTCAACCCCGACTAACCTTTACCTAGAGAGCTTTTAAAAAACATCATAATAGCAATGGCAGGACTCCACTCTGAGATACTCTGATCTTTTTGGCTTGGATAATCAGGATTGAAAAACACTGATTGATCCAGTTCCTATCCCTGTTTAGTGACTCTAATAGTCATCCAGACTTGCAACTGAATGAAGTGGCCTGCCCAGTAATACAGACGAGTGAAGCAAATCCTGCTTTGTGGCTTAATGGGACCCAGGTGGAAACCTGAAGAAGCAGCCTTAGGCAGTGTTTGTTTTTGTTTTTGTTTTTGTTTTTGTTTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAAGCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCTCACGTCACCACACCCGGCTAACTTTTGTATTTTTAGTGGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCCTGACATCATGATCCACCTGCCTCGGCCTCCCAAAGTGGTGGGATTACAGGCATGAGCCACCTTGCCCAGCCTTAAGCAGTGTTTTAAAGGAAAGGTAAAGACTGGGGGAGAGAAAGGAAGAAAGCACTATTGGTGACAAAAATATCAAGTACAAGAAACAGAGGCCAAGGTGATGATATCATGGCAGGCTAAAACAGGATTTTTCAGGTTTTAGGATACTCTTGAGGAGTACAAAAATAATCCCAGGCAGACGGAGAAGTGAGATGAATGAGATCAGTAGCAAACTGGGCTAGTGGTAGGTCTCGAAAGTTAGGAAGGATGGTTTTGATTTGACAGACAATAATGAATGGCTCAGTATTCTACAGGAGGGATTGATTGGTTAATTCTGCCAACAAATATTTTTGAATGACAACTAAGCTCATTCTGGGCCTTGAGATTCAAGATAGGGAAGGTTCCTCATGGAGCTTCCATCCCAATGGGTGAGGAGAACTGACCATGAATAAGTAAACAATATGTAAACCAAATCATTTCAAACTGTAATAAGTGCTGTAAAAGAAATACACAAAATAATATAGCAGAGGGTATAACAAAGGGTTCCAATTAGACGGAGTGGTCACAAAGTGCCATCTCAGAGATGGTGGCACTGAAGTTGGAACCTA
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Task1_train_23214
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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?
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Pathogenic; Inborn genetic diseases
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GCTACTCGGGAGCCTGAGGCAGGAAAATTGCTTGAACTCGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGACAGAGCTGAGATTACGTCTAAAAAGAAAAAGAAAAAATGCTGATTTCTGAGTCCTCTTCCCAGGGGCTCTGATCTAATTCATCAGGGTGTAGACAGGGAATCAATTGAGTTCACCAGGTGATTTTCATGTGGCTCAGGTCTGGATAGCACTGCACAATGTCGGAATCTCCACAGGTGGGGCTAGCCAGACGTGTGTTGAAGAGGTTCCTTTAGTGATTCTGGGGCAAGTCTCTGCCTGAAAAACCACCGGTTCAGAGAAATAGTTCTCAGCCGAGCCACCCTGTAAATCATCTGGGGCCTAAATACAATAAACACAGAAAACAGTGAACTATAAATGGGTAGCATGAGGGATTCGAGGAGGTGGCTGAAAGAAGCACGTATCCTGATGGCATGGTTGCGGGTTATATGACTCCATGCTCTGCAAGTCAGAACTCATAGAACTGCACACAAAAATGAGCGAATTTCACTGTAGGTAAATTTAAAAATAAAATATAAAAATAATGATGCCTAGGCCCTCCTCTCAGATTCTGATTTGATTTATCTGAAATGGGCCAGCCCCTCTACCTGTATATATGTATTTAACATCCCAAGCGATCATAATGTGCCACCAGGATGGAGAAAACTGCGGTGATGCGGCACTTCCCAAACACTAATGTCGTGCACGTGAACGTCAAGGACCTGTTAACATGAAGATTTTGATTTGGTAGGTCTGCTGCGCATAATGAAATCCTGCTTTTCTAACAGGCTCCTGGGTGATGCGGATGCTGCTGGGAAATGTTAGACATGCAGAATCCCAGGCCCCCACCCCCAACCTATAGAATCAGAATCTTCATCTTAACAAAATCCCCAGATGATTTACAAGCACCTCAAAGTTTGAGAAGAACTGTTCTGGGGTTCCCGTGGTGTGACAGCCATGGTGCTTGAGGGCTCAAAGGTCCAAATCCCTGGTGCGGGACCCTTCAGATAACTCAGTTGTTACCCTAATGTAGGAGCACATTTGGAATACACCCACCTTGTCCCAGACTCTCCCCAGCCCAGCACCACCTTCTCTCACCAATCCCCGTCAGAATAGAATCTCCTTGTATGCAGGTACAACATGGCTCATTTTTATATTTCCCAACGGTAGAATGTCTTGCACACAGAAGACTCCTAATGGATATTTCCTAAATTTTGCTGAACAGAATTTAACTTGAGCTGGCAACAGGCAGACTATGCACTTAGGTAGACATGCATTTAGTTTTGCCTTTTAATATTATAAATCTCTTTGGCTACATTCAAGGTAAACCTGGTATTGAAGCAAACTCTTTTTTATTTTTTTTTAGAGACAGGGTTTCATTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGAACATAGCTCACTGTAGCCTCAACCTCTGGGGGCTTGAGCAATCCTCCCACCTCAGCCTCCTGAGTATCTGGGACTACAGGCATGCACCACCACACCCAGCTAATTTTTCGTATTTTTTCTAGAGATAGGATCTCTGTGTTGCCCAGGCTGGTTTTGAACTCCTAGGCTCAAGCGATCCACCCACATTGGCCTCCCCAAGTGCTGGGATTACAGGCAAGGAGCCACTGCACCTGGCTGAAGCAAATGTTAATTACACGTTTCAATTATACAAATGCAAAGGGGAACTCTTAAAACTACTGCCAAAATTCACGACCCAATGTCAGCGCAGTCAGATCACTTGCCTGCATCTCAATGCCTCGCTCAAGTATCTCTTTTAAAACAACAGAATACTGTAATTTGTTAGTTGTCTAGAGTCTGACATAAATTTTTAGAGGAGAAAAACCAAATATAATATATTTATTTTGATTGTTTCCTGAGAGGATCAAGACTGGAAACCACTGCATCCTGGGGATCCCATGTTTTTAACTCTTGATGGGAAGACGATCCCACTGGGCGGAGACTGTACCGTGTACCCCGTGTTTGTGAATGAGGCCGCATATTACGAAAAGAAAGAAGCTTTTGCAAAGACAACTAAACTAACGCTCAATGCAAAAAGTATTCGCTGCTGTTTACATTAGAAATCACTTCCAGCTTACATCTTACACGGTGTCTTACAAATTCTGCTAGTCTGTAAGCTCCTTAAGAGTAGGGTTGTGCCTTATTCAACTGCATACATAGCTCCTAGCACAGTGCCTTATTCGGTAGGCATCTAAGCACATTTCTTAAATTAATTAATATATCTTTAAAGATATCATATTTTATGTATGTAGCTTATTCAAAGAAGTGTTTCCTATTTCTATATAGTTTATTATACATGATACTTGGGTAGCTCAACATTCTTAATAAACAGCCTTTGTATTCAGAATATAAAATTGAAATAGATATATATAAAGTTATTTGTTTTATTGTGCTTTGCCTTACTACACTTCACGGATACTGTACTTGTACTTTTTTTCCAAATTGAAGGTTTTTGGCAACCCTGTGTCTAGAAAGTCTAACAGTGCCATGTTTCCAACAGCATGTGCTCACTCCTTGTCTCTGTGTCACCCTTTGATAATATTTCAAGCTTTTTTATGATTTATTTATTATATCTGCTATGGTGATCTGTGATCAGTGGCCTTTGATGTTACTGTTGTTAAGTGTTTTGGGGCACCATGAATCGTGCCCATGTGAGACTGCGAACTTAGTGAATGTTGTGTGAGTTCTAACTGCTCTACTGACCGGCCATTTCCTTGTCTCTCTCCCTGTCCTCTGGCCTCCCTGTTCCTTGAGACACAATAATTAATAAGTCTACAGCAGACTCTGTGTGTTCAAGTGAAAGAAAGGGTCATACTTCTAGAAATTAAGCTTAGTAAGGAAGGCATGTCAAAAGCTGAGACAGGCTGAAAGCTAGGCCTCTTGCACTGGTTAGCCAAGTTGTGAATTCAAAGAAAAGGATCTTGAAGAAAATTAAAAATTCTACTCCAGTGCACACACACAAATGATAAGAAAGCAAAACAACCTTATTGCTGATATGGAGACAGTTTTAGTGGTCTGGATAGAAGATCAAACCAGCCACACATTAAGCCAAAGCATGACCCACAGCAAGGCCCTAACTCTCTTCAATTCTGTGAAGGCTGAGAGAGGTGAGGAAGCTGCAGGAAGCTGGGAGAGGTTGGTTCACAAGGTTTAAGGAAAGAAGACAGCTCTAAAACCTACAAGTGGAAAGCGAACCAGCAAGTTGCTGATGTGGAAGCTGTAGCAAGTTATCCAGAAGATGTAGCTAAAATCATTGACAAAGATGGCTACACTAAACAACGGATCTTCAGTGTAGTTGAAACAGCCTTCTATTGGAAGAAGATGCTATCTAGGACTTTCCTAGCTAGAGGGGAGAAATGAATGCCTAGCTTCAAAGCTTCAAAGGACAGCCTGACTCTCTTAAGAGCTAACACAGCTGGTGACTTTGGGTTAAAGCCAAAGCTCATTAACTGTTTCAAAAATCCTAAAACTCTTGTTTTTTGTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGAGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGCATTTTTTTAGTAGAGATGGGGTTTCACTCTGCTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCCAAAAATCGTAGGACTCTGAAGACTGATGCTAAACCTGCTGTGTCTGAGCTCTATAAATGGAACAACAAAGCCTCGCTGGCAGCACATCTGTTTGCGGCATGGTTTACTGTATATTTTAAGCCCACTGTTGAGACCTACTGCTTGGGAAAAAAAAAAATTCCTTTCAAAATACTACTGCTGATTGACAATACACCATGTTACCCAAGAGCTCTGCTGGAGATGTGCGAAGAGATTAGCATTGTT
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GCTACTCGGGAGCCTGAGGCAGGAAAATTGCTTGAACTCGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGACAGAGCTGAGATTACGTCTAAAAAGAAAAAGAAAAAATGCTGATTTCTGAGTCCTCTTCCCAGGGGCTCTGATCTAATTCATCAGGGTGTAGACAGGGAATCAATTGAGTTCACCAGGTGATTTTCATGTGGCTCAGGTCTGGATAGCACTGCACAATGTCGGAATCTCCACAGGTGGGGCTAGCCAGACGTGTGTTGAAGAGGTTCCTTTAGTGATTCTGGGGCAAGTCTCTGCCTGAAAAACCACCGGTTCAGAGAAATAGTTCTCAGCCGAGCCACCCTGTAAATCATCTGGGGCCTAAATACAATAAACACAGAAAACAGTGAACTATAAATGGGTAGCATGAGGGATTCGAGGAGGTGGCTGAAAGAAGCACGTATCCTGATGGCATGGTTGCGGGTTATATGACTCCATGCTCTGCAAGTCAGAACTCATAGAACTGCACACAAAAATGAGCGAATTTCACTGTAGGTAAATTTAAAAATAAAATATAAAAATAATGATGCCTAGGCCCTCCTCTCAGATTCTGATTTGATTTATCTGAAATGGGCCAGCCCCTCTACCTGTATATATGTATTTAACATCCCAAGCGATCATAATGTGCCACCAGGATGGAGAAAACTGCGGTGATGCGGCACTTCCCAAACACTAATGTCGTGCACGTGAACGTCAAGGACCTGTTAACATGAAGATTTTGATTTGGTAGGTCTGCTGCGCATAATGAAATCCTGCTTTTCTAACAGGCTCCTGGGTGATGCGGATGCTGCTGGGAAATGTTAGACATGCAGAATCCCAGGCCCCCACCCCCAACCTATAGAATCAGAATCTTCATCTTAACAAAATCCCCAGATGATTTACAAGCACCTCAAAGTTTGAGAAGAACTGTTCTGGGGTTCCCGTGGTGTGACAGCCATGGTGCTTGAGGGCTCAAAGGTCCAAATCCCTGGTGCGGGACCCTTCAGATAACTCAGTTGTTACCCTAATGTAGGAGCACATTTGGAATACACCCACCTTGTCCCAGACTCTCCCCAGCCCAGCACCACCTTCTCTCACCAATCCCCGTCAGAATAGAATCTCCTTGTATGCAGGTACAACATGGCTCATTTTTATATTTCCCAACGGTAGAATGTCTTGCACACAGAAGACTCCTAATGGATATTTCCTAAATTTTGCTGAACAGAATTTAACTTGAGCTGGCAACAGGCAGACTATGCACTTAGGTAGACATGCATTTAGTTTTGCCTTTTAATATTATAAATCTCTTTGGCTACATTCAAGGTAAACCTGGTATTGAAGCAAACTCTTTTTTATTTTTTTTTAGAGACAGGGTTTCATTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGAACATAGCTCACTGTAGCCTCAACCTCTGGGGGCTTGAGCAATCCTCCCACCTCAGCCTCCTGAGTATCTGGGACTACAGGCATGCACCACCACACCCAGCTAATTTTTCGTATTTTTTCTAGAGATAGGATCTCTGTGTTGCCCAGGCTGGTTTTGAACTCCTAGGCTCAAGCGATCCACCCACATTGGCCTCCCCAAGTGCTGGGATTACAGGCAAGGAGCCACTGCACCTGGCTGAAGCAAATGTTAATTACACGTTTCAATTATACAAATGCAAAGGGGAACTCTTAAAACTACTGCCAAAATTCACGACCCAATGTCAGCGCAGTCAGATCACTTGCCTGCATCTCAATGCCTCGCTCAAGTATCTCTTTTAAAACAACAGAATACTGTAATTTGTTAGTTGTCTAGAGTCTGACATAAATTTTTAGAGGAGAAAAACCAAATATAATATATTTATTTTGATTGTTTCCTGAGAGGATCAAGACTGGAAACCACTGCATCCTGGGGATCCCATGTTTTTAACTCTTGATGGGAAGACGATCCCACTGGGCGGAGACTGTACCGTGTACCCCGTGTTTGTGAATGCGGCCGCATATTACGAAAAGAAAGAAGCTTTTGCAAAGACAACTAAACTAACGCTCAATGCAAAAAGTATTCGCTGCTGTTTACATTAGAAATCACTTCCAGCTTACATCTTACACGGTGTCTTACAAATTCTGCTAGTCTGTAAGCTCCTTAAGAGTAGGGTTGTGCCTTATTCAACTGCATACATAGCTCCTAGCACAGTGCCTTATTCGGTAGGCATCTAAGCACATTTCTTAAATTAATTAATATATCTTTAAAGATATCATATTTTATGTATGTAGCTTATTCAAAGAAGTGTTTCCTATTTCTATATAGTTTATTATACATGATACTTGGGTAGCTCAACATTCTTAATAAACAGCCTTTGTATTCAGAATATAAAATTGAAATAGATATATATAAAGTTATTTGTTTTATTGTGCTTTGCCTTACTACACTTCACGGATACTGTACTTGTACTTTTTTTCCAAATTGAAGGTTTTTGGCAACCCTGTGTCTAGAAAGTCTAACAGTGCCATGTTTCCAACAGCATGTGCTCACTCCTTGTCTCTGTGTCACCCTTTGATAATATTTCAAGCTTTTTTATGATTTATTTATTATATCTGCTATGGTGATCTGTGATCAGTGGCCTTTGATGTTACTGTTGTTAAGTGTTTTGGGGCACCATGAATCGTGCCCATGTGAGACTGCGAACTTAGTGAATGTTGTGTGAGTTCTAACTGCTCTACTGACCGGCCATTTCCTTGTCTCTCTCCCTGTCCTCTGGCCTCCCTGTTCCTTGAGACACAATAATTAATAAGTCTACAGCAGACTCTGTGTGTTCAAGTGAAAGAAAGGGTCATACTTCTAGAAATTAAGCTTAGTAAGGAAGGCATGTCAAAAGCTGAGACAGGCTGAAAGCTAGGCCTCTTGCACTGGTTAGCCAAGTTGTGAATTCAAAGAAAAGGATCTTGAAGAAAATTAAAAATTCTACTCCAGTGCACACACACAAATGATAAGAAAGCAAAACAACCTTATTGCTGATATGGAGACAGTTTTAGTGGTCTGGATAGAAGATCAAACCAGCCACACATTAAGCCAAAGCATGACCCACAGCAAGGCCCTAACTCTCTTCAATTCTGTGAAGGCTGAGAGAGGTGAGGAAGCTGCAGGAAGCTGGGAGAGGTTGGTTCACAAGGTTTAAGGAAAGAAGACAGCTCTAAAACCTACAAGTGGAAAGCGAACCAGCAAGTTGCTGATGTGGAAGCTGTAGCAAGTTATCCAGAAGATGTAGCTAAAATCATTGACAAAGATGGCTACACTAAACAACGGATCTTCAGTGTAGTTGAAACAGCCTTCTATTGGAAGAAGATGCTATCTAGGACTTTCCTAGCTAGAGGGGAGAAATGAATGCCTAGCTTCAAAGCTTCAAAGGACAGCCTGACTCTCTTAAGAGCTAACACAGCTGGTGACTTTGGGTTAAAGCCAAAGCTCATTAACTGTTTCAAAAATCCTAAAACTCTTGTTTTTTGTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGAGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGCATTTTTTTAGTAGAGATGGGGTTTCACTCTGCTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCCAAAAATCGTAGGACTCTGAAGACTGATGCTAAACCTGCTGTGTCTGAGCTCTATAAATGGAACAACAAAGCCTCGCTGGCAGCACATCTGTTTGCGGCATGGTTTACTGTATATTTTAAGCCCACTGTTGAGACCTACTGCTTGGGAAAAAAAAAAATTCCTTTCAAAATACTACTGCTGATTGACAATACACCATGTTACCCAAGAGCTCTGCTGGAGATGTGCGAAGAGATTAGCATTGTT
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Task1_train_23215
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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.
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Pathogenic; Canavan Disease, Familial Form
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GCTACTCGGGAGCCTGAGGCAGGAAAATTGCTTGAACTCGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGACAGAGCTGAGATTACGTCTAAAAAGAAAAAGAAAAAATGCTGATTTCTGAGTCCTCTTCCCAGGGGCTCTGATCTAATTCATCAGGGTGTAGACAGGGAATCAATTGAGTTCACCAGGTGATTTTCATGTGGCTCAGGTCTGGATAGCACTGCACAATGTCGGAATCTCCACAGGTGGGGCTAGCCAGACGTGTGTTGAAGAGGTTCCTTTAGTGATTCTGGGGCAAGTCTCTGCCTGAAAAACCACCGGTTCAGAGAAATAGTTCTCAGCCGAGCCACCCTGTAAATCATCTGGGGCCTAAATACAATAAACACAGAAAACAGTGAACTATAAATGGGTAGCATGAGGGATTCGAGGAGGTGGCTGAAAGAAGCACGTATCCTGATGGCATGGTTGCGGGTTATATGACTCCATGCTCTGCAAGTCAGAACTCATAGAACTGCACACAAAAATGAGCGAATTTCACTGTAGGTAAATTTAAAAATAAAATATAAAAATAATGATGCCTAGGCCCTCCTCTCAGATTCTGATTTGATTTATCTGAAATGGGCCAGCCCCTCTACCTGTATATATGTATTTAACATCCCAAGCGATCATAATGTGCCACCAGGATGGAGAAAACTGCGGTGATGCGGCACTTCCCAAACACTAATGTCGTGCACGTGAACGTCAAGGACCTGTTAACATGAAGATTTTGATTTGGTAGGTCTGCTGCGCATAATGAAATCCTGCTTTTCTAACAGGCTCCTGGGTGATGCGGATGCTGCTGGGAAATGTTAGACATGCAGAATCCCAGGCCCCCACCCCCAACCTATAGAATCAGAATCTTCATCTTAACAAAATCCCCAGATGATTTACAAGCACCTCAAAGTTTGAGAAGAACTGTTCTGGGGTTCCCGTGGTGTGACAGCCATGGTGCTTGAGGGCTCAAAGGTCCAAATCCCTGGTGCGGGACCCTTCAGATAACTCAGTTGTTACCCTAATGTAGGAGCACATTTGGAATACACCCACCTTGTCCCAGACTCTCCCCAGCCCAGCACCACCTTCTCTCACCAATCCCCGTCAGAATAGAATCTCCTTGTATGCAGGTACAACATGGCTCATTTTTATATTTCCCAACGGTAGAATGTCTTGCACACAGAAGACTCCTAATGGATATTTCCTAAATTTTGCTGAACAGAATTTAACTTGAGCTGGCAACAGGCAGACTATGCACTTAGGTAGACATGCATTTAGTTTTGCCTTTTAATATTATAAATCTCTTTGGCTACATTCAAGGTAAACCTGGTATTGAAGCAAACTCTTTTTTATTTTTTTTTAGAGACAGGGTTTCATTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGAACATAGCTCACTGTAGCCTCAACCTCTGGGGGCTTGAGCAATCCTCCCACCTCAGCCTCCTGAGTATCTGGGACTACAGGCATGCACCACCACACCCAGCTAATTTTTCGTATTTTTTCTAGAGATAGGATCTCTGTGTTGCCCAGGCTGGTTTTGAACTCCTAGGCTCAAGCGATCCACCCACATTGGCCTCCCCAAGTGCTGGGATTACAGGCAAGGAGCCACTGCACCTGGCTGAAGCAAATGTTAATTACACGTTTCAATTATACAAATGCAAAGGGGAACTCTTAAAACTACTGCCAAAATTCACGACCCAATGTCAGCGCAGTCAGATCACTTGCCTGCATCTCAATGCCTCGCTCAAGTATCTCTTTTAAAACAACAGAATACTGTAATTTGTTAGTTGTCTAGAGTCTGACATAAATTTTTAGAGGAGAAAAACCAAATATAATATATTTATTTTGATTGTTTCCTGAGAGGATCAAGACTGGAAACCACTGCATCCTGGGGATCCCATGTTTTTAACTCTTGATGGGAAGACGATCCCACTGGGCGGAGACTGTACCGTGTACCCCGTGTTTGTGAATGAGGCCGCATATTACGAAAAGAAAGAAGCTTTTGCAAAGACAACTAAACTAACGCTCAATGCAAAAAGTATTCGCTGCTGTTTACATTAGAAATCACTTCCAGCTTACATCTTACACGGTGTCTTACAAATTCTGCTAGTCTGTAAGCTCCTTAAGAGTAGGGTTGTGCCTTATTCAACTGCATACATAGCTCCTAGCACAGTGCCTTATTCGGTAGGCATCTAAGCACATTTCTTAAATTAATTAATATATCTTTAAAGATATCATATTTTATGTATGTAGCTTATTCAAAGAAGTGTTTCCTATTTCTATATAGTTTATTATACATGATACTTGGGTAGCTCAACATTCTTAATAAACAGCCTTTGTATTCAGAATATAAAATTGAAATAGATATATATAAAGTTATTTGTTTTATTGTGCTTTGCCTTACTACACTTCACGGATACTGTACTTGTACTTTTTTTCCAAATTGAAGGTTTTTGGCAACCCTGTGTCTAGAAAGTCTAACAGTGCCATGTTTCCAACAGCATGTGCTCACTCCTTGTCTCTGTGTCACCCTTTGATAATATTTCAAGCTTTTTTATGATTTATTTATTATATCTGCTATGGTGATCTGTGATCAGTGGCCTTTGATGTTACTGTTGTTAAGTGTTTTGGGGCACCATGAATCGTGCCCATGTGAGACTGCGAACTTAGTGAATGTTGTGTGAGTTCTAACTGCTCTACTGACCGGCCATTTCCTTGTCTCTCTCCCTGTCCTCTGGCCTCCCTGTTCCTTGAGACACAATAATTAATAAGTCTACAGCAGACTCTGTGTGTTCAAGTGAAAGAAAGGGTCATACTTCTAGAAATTAAGCTTAGTAAGGAAGGCATGTCAAAAGCTGAGACAGGCTGAAAGCTAGGCCTCTTGCACTGGTTAGCCAAGTTGTGAATTCAAAGAAAAGGATCTTGAAGAAAATTAAAAATTCTACTCCAGTGCACACACACAAATGATAAGAAAGCAAAACAACCTTATTGCTGATATGGAGACAGTTTTAGTGGTCTGGATAGAAGATCAAACCAGCCACACATTAAGCCAAAGCATGACCCACAGCAAGGCCCTAACTCTCTTCAATTCTGTGAAGGCTGAGAGAGGTGAGGAAGCTGCAGGAAGCTGGGAGAGGTTGGTTCACAAGGTTTAAGGAAAGAAGACAGCTCTAAAACCTACAAGTGGAAAGCGAACCAGCAAGTTGCTGATGTGGAAGCTGTAGCAAGTTATCCAGAAGATGTAGCTAAAATCATTGACAAAGATGGCTACACTAAACAACGGATCTTCAGTGTAGTTGAAACAGCCTTCTATTGGAAGAAGATGCTATCTAGGACTTTCCTAGCTAGAGGGGAGAAATGAATGCCTAGCTTCAAAGCTTCAAAGGACAGCCTGACTCTCTTAAGAGCTAACACAGCTGGTGACTTTGGGTTAAAGCCAAAGCTCATTAACTGTTTCAAAAATCCTAAAACTCTTGTTTTTTGTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGAGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGCATTTTTTTAGTAGAGATGGGGTTTCACTCTGCTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCCAAAAATCGTAGGACTCTGAAGACTGATGCTAAACCTGCTGTGTCTGAGCTCTATAAATGGAACAACAAAGCCTCGCTGGCAGCACATCTGTTTGCGGCATGGTTTACTGTATATTTTAAGCCCACTGTTGAGACCTACTGCTTGGGAAAAAAAAAAATTCCTTTCAAAATACTACTGCTGATTGACAATACACCATGTTACCCAAGAGCTCTGCTGGAGATGTGCGAAGAGATTAGCATTGTT
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GCTACTCGGGAGCCTGAGGCAGGAAAATTGCTTGAACTCGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGACAGAGCTGAGATTACGTCTAAAAAGAAAAAGAAAAAATGCTGATTTCTGAGTCCTCTTCCCAGGGGCTCTGATCTAATTCATCAGGGTGTAGACAGGGAATCAATTGAGTTCACCAGGTGATTTTCATGTGGCTCAGGTCTGGATAGCACTGCACAATGTCGGAATCTCCACAGGTGGGGCTAGCCAGACGTGTGTTGAAGAGGTTCCTTTAGTGATTCTGGGGCAAGTCTCTGCCTGAAAAACCACCGGTTCAGAGAAATAGTTCTCAGCCGAGCCACCCTGTAAATCATCTGGGGCCTAAATACAATAAACACAGAAAACAGTGAACTATAAATGGGTAGCATGAGGGATTCGAGGAGGTGGCTGAAAGAAGCACGTATCCTGATGGCATGGTTGCGGGTTATATGACTCCATGCTCTGCAAGTCAGAACTCATAGAACTGCACACAAAAATGAGCGAATTTCACTGTAGGTAAATTTAAAAATAAAATATAAAAATAATGATGCCTAGGCCCTCCTCTCAGATTCTGATTTGATTTATCTGAAATGGGCCAGCCCCTCTACCTGTATATATGTATTTAACATCCCAAGCGATCATAATGTGCCACCAGGATGGAGAAAACTGCGGTGATGCGGCACTTCCCAAACACTAATGTCGTGCACGTGAACGTCAAGGACCTGTTAACATGAAGATTTTGATTTGGTAGGTCTGCTGCGCATAATGAAATCCTGCTTTTCTAACAGGCTCCTGGGTGATGCGGATGCTGCTGGGAAATGTTAGACATGCAGAATCCCAGGCCCCCACCCCCAACCTATAGAATCAGAATCTTCATCTTAACAAAATCCCCAGATGATTTACAAGCACCTCAAAGTTTGAGAAGAACTGTTCTGGGGTTCCCGTGGTGTGACAGCCATGGTGCTTGAGGGCTCAAAGGTCCAAATCCCTGGTGCGGGACCCTTCAGATAACTCAGTTGTTACCCTAATGTAGGAGCACATTTGGAATACACCCACCTTGTCCCAGACTCTCCCCAGCCCAGCACCACCTTCTCTCACCAATCCCCGTCAGAATAGAATCTCCTTGTATGCAGGTACAACATGGCTCATTTTTATATTTCCCAACGGTAGAATGTCTTGCACACAGAAGACTCCTAATGGATATTTCCTAAATTTTGCTGAACAGAATTTAACTTGAGCTGGCAACAGGCAGACTATGCACTTAGGTAGACATGCATTTAGTTTTGCCTTTTAATATTATAAATCTCTTTGGCTACATTCAAGGTAAACCTGGTATTGAAGCAAACTCTTTTTTATTTTTTTTTAGAGACAGGGTTTCATTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGAACATAGCTCACTGTAGCCTCAACCTCTGGGGGCTTGAGCAATCCTCCCACCTCAGCCTCCTGAGTATCTGGGACTACAGGCATGCACCACCACACCCAGCTAATTTTTCGTATTTTTTCTAGAGATAGGATCTCTGTGTTGCCCAGGCTGGTTTTGAACTCCTAGGCTCAAGCGATCCACCCACATTGGCCTCCCCAAGTGCTGGGATTACAGGCAAGGAGCCACTGCACCTGGCTGAAGCAAATGTTAATTACACGTTTCAATTATACAAATGCAAAGGGGAACTCTTAAAACTACTGCCAAAATTCACGACCCAATGTCAGCGCAGTCAGATCACTTGCCTGCATCTCAATGCCTCGCTCAAGTATCTCTTTTAAAACAACAGAATACTGTAATTTGTTAGTTGTCTAGAGTCTGACATAAATTTTTAGAGGAGAAAAACCAAATATAATATATTTATTTTGATTGTTTCCTGAGAGGATCAAGACTGGAAACCACTGCATCCTGGGGATCCCATGTTTTTAACTCTTGATGGGAAGACGATCCCACTGGGCGGAGACTGTACCGTGTACCCCGTGTTTGTGAATGCGGCCGCATATTACGAAAAGAAAGAAGCTTTTGCAAAGACAACTAAACTAACGCTCAATGCAAAAAGTATTCGCTGCTGTTTACATTAGAAATCACTTCCAGCTTACATCTTACACGGTGTCTTACAAATTCTGCTAGTCTGTAAGCTCCTTAAGAGTAGGGTTGTGCCTTATTCAACTGCATACATAGCTCCTAGCACAGTGCCTTATTCGGTAGGCATCTAAGCACATTTCTTAAATTAATTAATATATCTTTAAAGATATCATATTTTATGTATGTAGCTTATTCAAAGAAGTGTTTCCTATTTCTATATAGTTTATTATACATGATACTTGGGTAGCTCAACATTCTTAATAAACAGCCTTTGTATTCAGAATATAAAATTGAAATAGATATATATAAAGTTATTTGTTTTATTGTGCTTTGCCTTACTACACTTCACGGATACTGTACTTGTACTTTTTTTCCAAATTGAAGGTTTTTGGCAACCCTGTGTCTAGAAAGTCTAACAGTGCCATGTTTCCAACAGCATGTGCTCACTCCTTGTCTCTGTGTCACCCTTTGATAATATTTCAAGCTTTTTTATGATTTATTTATTATATCTGCTATGGTGATCTGTGATCAGTGGCCTTTGATGTTACTGTTGTTAAGTGTTTTGGGGCACCATGAATCGTGCCCATGTGAGACTGCGAACTTAGTGAATGTTGTGTGAGTTCTAACTGCTCTACTGACCGGCCATTTCCTTGTCTCTCTCCCTGTCCTCTGGCCTCCCTGTTCCTTGAGACACAATAATTAATAAGTCTACAGCAGACTCTGTGTGTTCAAGTGAAAGAAAGGGTCATACTTCTAGAAATTAAGCTTAGTAAGGAAGGCATGTCAAAAGCTGAGACAGGCTGAAAGCTAGGCCTCTTGCACTGGTTAGCCAAGTTGTGAATTCAAAGAAAAGGATCTTGAAGAAAATTAAAAATTCTACTCCAGTGCACACACACAAATGATAAGAAAGCAAAACAACCTTATTGCTGATATGGAGACAGTTTTAGTGGTCTGGATAGAAGATCAAACCAGCCACACATTAAGCCAAAGCATGACCCACAGCAAGGCCCTAACTCTCTTCAATTCTGTGAAGGCTGAGAGAGGTGAGGAAGCTGCAGGAAGCTGGGAGAGGTTGGTTCACAAGGTTTAAGGAAAGAAGACAGCTCTAAAACCTACAAGTGGAAAGCGAACCAGCAAGTTGCTGATGTGGAAGCTGTAGCAAGTTATCCAGAAGATGTAGCTAAAATCATTGACAAAGATGGCTACACTAAACAACGGATCTTCAGTGTAGTTGAAACAGCCTTCTATTGGAAGAAGATGCTATCTAGGACTTTCCTAGCTAGAGGGGAGAAATGAATGCCTAGCTTCAAAGCTTCAAAGGACAGCCTGACTCTCTTAAGAGCTAACACAGCTGGTGACTTTGGGTTAAAGCCAAAGCTCATTAACTGTTTCAAAAATCCTAAAACTCTTGTTTTTTGTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGAGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGCATTTTTTTAGTAGAGATGGGGTTTCACTCTGCTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCCAAAAATCGTAGGACTCTGAAGACTGATGCTAAACCTGCTGTGTCTGAGCTCTATAAATGGAACAACAAAGCCTCGCTGGCAGCACATCTGTTTGCGGCATGGTTTACTGTATATTTTAAGCCCACTGTTGAGACCTACTGCTTGGGAAAAAAAAAAATTCCTTTCAAAATACTACTGCTGATTGACAATACACCATGTTACCCAAGAGCTCTGCTGGAGATGTGCGAAGAGATTAGCATTGTT
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Task1_train_23216
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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.
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Pathogenic; Spongy degeneration of central nervous system
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GCTACTCGGGAGCCTGAGGCAGGAAAATTGCTTGAACTCGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGACAGAGCTGAGATTACGTCTAAAAAGAAAAAGAAAAAATGCTGATTTCTGAGTCCTCTTCCCAGGGGCTCTGATCTAATTCATCAGGGTGTAGACAGGGAATCAATTGAGTTCACCAGGTGATTTTCATGTGGCTCAGGTCTGGATAGCACTGCACAATGTCGGAATCTCCACAGGTGGGGCTAGCCAGACGTGTGTTGAAGAGGTTCCTTTAGTGATTCTGGGGCAAGTCTCTGCCTGAAAAACCACCGGTTCAGAGAAATAGTTCTCAGCCGAGCCACCCTGTAAATCATCTGGGGCCTAAATACAATAAACACAGAAAACAGTGAACTATAAATGGGTAGCATGAGGGATTCGAGGAGGTGGCTGAAAGAAGCACGTATCCTGATGGCATGGTTGCGGGTTATATGACTCCATGCTCTGCAAGTCAGAACTCATAGAACTGCACACAAAAATGAGCGAATTTCACTGTAGGTAAATTTAAAAATAAAATATAAAAATAATGATGCCTAGGCCCTCCTCTCAGATTCTGATTTGATTTATCTGAAATGGGCCAGCCCCTCTACCTGTATATATGTATTTAACATCCCAAGCGATCATAATGTGCCACCAGGATGGAGAAAACTGCGGTGATGCGGCACTTCCCAAACACTAATGTCGTGCACGTGAACGTCAAGGACCTGTTAACATGAAGATTTTGATTTGGTAGGTCTGCTGCGCATAATGAAATCCTGCTTTTCTAACAGGCTCCTGGGTGATGCGGATGCTGCTGGGAAATGTTAGACATGCAGAATCCCAGGCCCCCACCCCCAACCTATAGAATCAGAATCTTCATCTTAACAAAATCCCCAGATGATTTACAAGCACCTCAAAGTTTGAGAAGAACTGTTCTGGGGTTCCCGTGGTGTGACAGCCATGGTGCTTGAGGGCTCAAAGGTCCAAATCCCTGGTGCGGGACCCTTCAGATAACTCAGTTGTTACCCTAATGTAGGAGCACATTTGGAATACACCCACCTTGTCCCAGACTCTCCCCAGCCCAGCACCACCTTCTCTCACCAATCCCCGTCAGAATAGAATCTCCTTGTATGCAGGTACAACATGGCTCATTTTTATATTTCCCAACGGTAGAATGTCTTGCACACAGAAGACTCCTAATGGATATTTCCTAAATTTTGCTGAACAGAATTTAACTTGAGCTGGCAACAGGCAGACTATGCACTTAGGTAGACATGCATTTAGTTTTGCCTTTTAATATTATAAATCTCTTTGGCTACATTCAAGGTAAACCTGGTATTGAAGCAAACTCTTTTTTATTTTTTTTTAGAGACAGGGTTTCATTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGAACATAGCTCACTGTAGCCTCAACCTCTGGGGGCTTGAGCAATCCTCCCACCTCAGCCTCCTGAGTATCTGGGACTACAGGCATGCACCACCACACCCAGCTAATTTTTCGTATTTTTTCTAGAGATAGGATCTCTGTGTTGCCCAGGCTGGTTTTGAACTCCTAGGCTCAAGCGATCCACCCACATTGGCCTCCCCAAGTGCTGGGATTACAGGCAAGGAGCCACTGCACCTGGCTGAAGCAAATGTTAATTACACGTTTCAATTATACAAATGCAAAGGGGAACTCTTAAAACTACTGCCAAAATTCACGACCCAATGTCAGCGCAGTCAGATCACTTGCCTGCATCTCAATGCCTCGCTCAAGTATCTCTTTTAAAACAACAGAATACTGTAATTTGTTAGTTGTCTAGAGTCTGACATAAATTTTTAGAGGAGAAAAACCAAATATAATATATTTATTTTGATTGTTTCCTGAGAGGATCAAGACTGGAAACCACTGCATCCTGGGGATCCCATGTTTTTAACTCTTGATGGGAAGACGATCCCACTGGGCGGAGACTGTACCGTGTACCCCGTGTTTGTGAATGAGGCCGCATATTACGAAAAGAAAGAAGCTTTTGCAAAGACAACTAAACTAACGCTCAATGCAAAAAGTATTCGCTGCTGTTTACATTAGAAATCACTTCCAGCTTACATCTTACACGGTGTCTTACAAATTCTGCTAGTCTGTAAGCTCCTTAAGAGTAGGGTTGTGCCTTATTCAACTGCATACATAGCTCCTAGCACAGTGCCTTATTCGGTAGGCATCTAAGCACATTTCTTAAATTAATTAATATATCTTTAAAGATATCATATTTTATGTATGTAGCTTATTCAAAGAAGTGTTTCCTATTTCTATATAGTTTATTATACATGATACTTGGGTAGCTCAACATTCTTAATAAACAGCCTTTGTATTCAGAATATAAAATTGAAATAGATATATATAAAGTTATTTGTTTTATTGTGCTTTGCCTTACTACACTTCACGGATACTGTACTTGTACTTTTTTTCCAAATTGAAGGTTTTTGGCAACCCTGTGTCTAGAAAGTCTAACAGTGCCATGTTTCCAACAGCATGTGCTCACTCCTTGTCTCTGTGTCACCCTTTGATAATATTTCAAGCTTTTTTATGATTTATTTATTATATCTGCTATGGTGATCTGTGATCAGTGGCCTTTGATGTTACTGTTGTTAAGTGTTTTGGGGCACCATGAATCGTGCCCATGTGAGACTGCGAACTTAGTGAATGTTGTGTGAGTTCTAACTGCTCTACTGACCGGCCATTTCCTTGTCTCTCTCCCTGTCCTCTGGCCTCCCTGTTCCTTGAGACACAATAATTAATAAGTCTACAGCAGACTCTGTGTGTTCAAGTGAAAGAAAGGGTCATACTTCTAGAAATTAAGCTTAGTAAGGAAGGCATGTCAAAAGCTGAGACAGGCTGAAAGCTAGGCCTCTTGCACTGGTTAGCCAAGTTGTGAATTCAAAGAAAAGGATCTTGAAGAAAATTAAAAATTCTACTCCAGTGCACACACACAAATGATAAGAAAGCAAAACAACCTTATTGCTGATATGGAGACAGTTTTAGTGGTCTGGATAGAAGATCAAACCAGCCACACATTAAGCCAAAGCATGACCCACAGCAAGGCCCTAACTCTCTTCAATTCTGTGAAGGCTGAGAGAGGTGAGGAAGCTGCAGGAAGCTGGGAGAGGTTGGTTCACAAGGTTTAAGGAAAGAAGACAGCTCTAAAACCTACAAGTGGAAAGCGAACCAGCAAGTTGCTGATGTGGAAGCTGTAGCAAGTTATCCAGAAGATGTAGCTAAAATCATTGACAAAGATGGCTACACTAAACAACGGATCTTCAGTGTAGTTGAAACAGCCTTCTATTGGAAGAAGATGCTATCTAGGACTTTCCTAGCTAGAGGGGAGAAATGAATGCCTAGCTTCAAAGCTTCAAAGGACAGCCTGACTCTCTTAAGAGCTAACACAGCTGGTGACTTTGGGTTAAAGCCAAAGCTCATTAACTGTTTCAAAAATCCTAAAACTCTTGTTTTTTGTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGAGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGCATTTTTTTAGTAGAGATGGGGTTTCACTCTGCTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCCAAAAATCGTAGGACTCTGAAGACTGATGCTAAACCTGCTGTGTCTGAGCTCTATAAATGGAACAACAAAGCCTCGCTGGCAGCACATCTGTTTGCGGCATGGTTTACTGTATATTTTAAGCCCACTGTTGAGACCTACTGCTTGGGAAAAAAAAAAATTCCTTTCAAAATACTACTGCTGATTGACAATACACCATGTTACCCAAGAGCTCTGCTGGAGATGTGCGAAGAGATTAGCATTGTT
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GCTACTCGGGAGCCTGAGGCAGGAAAATTGCTTGAACTCGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGACAGAGCTGAGATTACGTCTAAAAAGAAAAAGAAAAAATGCTGATTTCTGAGTCCTCTTCCCAGGGGCTCTGATCTAATTCATCAGGGTGTAGACAGGGAATCAATTGAGTTCACCAGGTGATTTTCATGTGGCTCAGGTCTGGATAGCACTGCACAATGTCGGAATCTCCACAGGTGGGGCTAGCCAGACGTGTGTTGAAGAGGTTCCTTTAGTGATTCTGGGGCAAGTCTCTGCCTGAAAAACCACCGGTTCAGAGAAATAGTTCTCAGCCGAGCCACCCTGTAAATCATCTGGGGCCTAAATACAATAAACACAGAAAACAGTGAACTATAAATGGGTAGCATGAGGGATTCGAGGAGGTGGCTGAAAGAAGCACGTATCCTGATGGCATGGTTGCGGGTTATATGACTCCATGCTCTGCAAGTCAGAACTCATAGAACTGCACACAAAAATGAGCGAATTTCACTGTAGGTAAATTTAAAAATAAAATATAAAAATAATGATGCCTAGGCCCTCCTCTCAGATTCTGATTTGATTTATCTGAAATGGGCCAGCCCCTCTACCTGTATATATGTATTTAACATCCCAAGCGATCATAATGTGCCACCAGGATGGAGAAAACTGCGGTGATGCGGCACTTCCCAAACACTAATGTCGTGCACGTGAACGTCAAGGACCTGTTAACATGAAGATTTTGATTTGGTAGGTCTGCTGCGCATAATGAAATCCTGCTTTTCTAACAGGCTCCTGGGTGATGCGGATGCTGCTGGGAAATGTTAGACATGCAGAATCCCAGGCCCCCACCCCCAACCTATAGAATCAGAATCTTCATCTTAACAAAATCCCCAGATGATTTACAAGCACCTCAAAGTTTGAGAAGAACTGTTCTGGGGTTCCCGTGGTGTGACAGCCATGGTGCTTGAGGGCTCAAAGGTCCAAATCCCTGGTGCGGGACCCTTCAGATAACTCAGTTGTTACCCTAATGTAGGAGCACATTTGGAATACACCCACCTTGTCCCAGACTCTCCCCAGCCCAGCACCACCTTCTCTCACCAATCCCCGTCAGAATAGAATCTCCTTGTATGCAGGTACAACATGGCTCATTTTTATATTTCCCAACGGTAGAATGTCTTGCACACAGAAGACTCCTAATGGATATTTCCTAAATTTTGCTGAACAGAATTTAACTTGAGCTGGCAACAGGCAGACTATGCACTTAGGTAGACATGCATTTAGTTTTGCCTTTTAATATTATAAATCTCTTTGGCTACATTCAAGGTAAACCTGGTATTGAAGCAAACTCTTTTTTATTTTTTTTTAGAGACAGGGTTTCATTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGAACATAGCTCACTGTAGCCTCAACCTCTGGGGGCTTGAGCAATCCTCCCACCTCAGCCTCCTGAGTATCTGGGACTACAGGCATGCACCACCACACCCAGCTAATTTTTCGTATTTTTTCTAGAGATAGGATCTCTGTGTTGCCCAGGCTGGTTTTGAACTCCTAGGCTCAAGCGATCCACCCACATTGGCCTCCCCAAGTGCTGGGATTACAGGCAAGGAGCCACTGCACCTGGCTGAAGCAAATGTTAATTACACGTTTCAATTATACAAATGCAAAGGGGAACTCTTAAAACTACTGCCAAAATTCACGACCCAATGTCAGCGCAGTCAGATCACTTGCCTGCATCTCAATGCCTCGCTCAAGTATCTCTTTTAAAACAACAGAATACTGTAATTTGTTAGTTGTCTAGAGTCTGACATAAATTTTTAGAGGAGAAAAACCAAATATAATATATTTATTTTGATTGTTTCCTGAGAGGATCAAGACTGGAAACCACTGCATCCTGGGGATCCCATGTTTTTAACTCTTGATGGGAAGACGATCCCACTGGGCGGAGACTGTACCGTGTACCCCGTGTTTGTGAATGCGGCCGCATATTACGAAAAGAAAGAAGCTTTTGCAAAGACAACTAAACTAACGCTCAATGCAAAAAGTATTCGCTGCTGTTTACATTAGAAATCACTTCCAGCTTACATCTTACACGGTGTCTTACAAATTCTGCTAGTCTGTAAGCTCCTTAAGAGTAGGGTTGTGCCTTATTCAACTGCATACATAGCTCCTAGCACAGTGCCTTATTCGGTAGGCATCTAAGCACATTTCTTAAATTAATTAATATATCTTTAAAGATATCATATTTTATGTATGTAGCTTATTCAAAGAAGTGTTTCCTATTTCTATATAGTTTATTATACATGATACTTGGGTAGCTCAACATTCTTAATAAACAGCCTTTGTATTCAGAATATAAAATTGAAATAGATATATATAAAGTTATTTGTTTTATTGTGCTTTGCCTTACTACACTTCACGGATACTGTACTTGTACTTTTTTTCCAAATTGAAGGTTTTTGGCAACCCTGTGTCTAGAAAGTCTAACAGTGCCATGTTTCCAACAGCATGTGCTCACTCCTTGTCTCTGTGTCACCCTTTGATAATATTTCAAGCTTTTTTATGATTTATTTATTATATCTGCTATGGTGATCTGTGATCAGTGGCCTTTGATGTTACTGTTGTTAAGTGTTTTGGGGCACCATGAATCGTGCCCATGTGAGACTGCGAACTTAGTGAATGTTGTGTGAGTTCTAACTGCTCTACTGACCGGCCATTTCCTTGTCTCTCTCCCTGTCCTCTGGCCTCCCTGTTCCTTGAGACACAATAATTAATAAGTCTACAGCAGACTCTGTGTGTTCAAGTGAAAGAAAGGGTCATACTTCTAGAAATTAAGCTTAGTAAGGAAGGCATGTCAAAAGCTGAGACAGGCTGAAAGCTAGGCCTCTTGCACTGGTTAGCCAAGTTGTGAATTCAAAGAAAAGGATCTTGAAGAAAATTAAAAATTCTACTCCAGTGCACACACACAAATGATAAGAAAGCAAAACAACCTTATTGCTGATATGGAGACAGTTTTAGTGGTCTGGATAGAAGATCAAACCAGCCACACATTAAGCCAAAGCATGACCCACAGCAAGGCCCTAACTCTCTTCAATTCTGTGAAGGCTGAGAGAGGTGAGGAAGCTGCAGGAAGCTGGGAGAGGTTGGTTCACAAGGTTTAAGGAAAGAAGACAGCTCTAAAACCTACAAGTGGAAAGCGAACCAGCAAGTTGCTGATGTGGAAGCTGTAGCAAGTTATCCAGAAGATGTAGCTAAAATCATTGACAAAGATGGCTACACTAAACAACGGATCTTCAGTGTAGTTGAAACAGCCTTCTATTGGAAGAAGATGCTATCTAGGACTTTCCTAGCTAGAGGGGAGAAATGAATGCCTAGCTTCAAAGCTTCAAAGGACAGCCTGACTCTCTTAAGAGCTAACACAGCTGGTGACTTTGGGTTAAAGCCAAAGCTCATTAACTGTTTCAAAAATCCTAAAACTCTTGTTTTTTGTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGAGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGCATTTTTTTAGTAGAGATGGGGTTTCACTCTGCTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCCAAAAATCGTAGGACTCTGAAGACTGATGCTAAACCTGCTGTGTCTGAGCTCTATAAATGGAACAACAAAGCCTCGCTGGCAGCACATCTGTTTGCGGCATGGTTTACTGTATATTTTAAGCCCACTGTTGAGACCTACTGCTTGGGAAAAAAAAAAATTCCTTTCAAAATACTACTGCTGATTGACAATACACCATGTTACCCAAGAGCTCTGCTGGAGATGTGCGAAGAGATTAGCATTGTT
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Task1_train_23217
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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.
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Pathogenic; Inborn genetic diseases
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GCTGAGATTGTGCCACTGCACTCCAGCCTGGACAGAGCTGAGATTACGTCTAAAAAGAAAAAGAAAAAATGCTGATTTCTGAGTCCTCTTCCCAGGGGCTCTGATCTAATTCATCAGGGTGTAGACAGGGAATCAATTGAGTTCACCAGGTGATTTTCATGTGGCTCAGGTCTGGATAGCACTGCACAATGTCGGAATCTCCACAGGTGGGGCTAGCCAGACGTGTGTTGAAGAGGTTCCTTTAGTGATTCTGGGGCAAGTCTCTGCCTGAAAAACCACCGGTTCAGAGAAATAGTTCTCAGCCGAGCCACCCTGTAAATCATCTGGGGCCTAAATACAATAAACACAGAAAACAGTGAACTATAAATGGGTAGCATGAGGGATTCGAGGAGGTGGCTGAAAGAAGCACGTATCCTGATGGCATGGTTGCGGGTTATATGACTCCATGCTCTGCAAGTCAGAACTCATAGAACTGCACACAAAAATGAGCGAATTTCACTGTAGGTAAATTTAAAAATAAAATATAAAAATAATGATGCCTAGGCCCTCCTCTCAGATTCTGATTTGATTTATCTGAAATGGGCCAGCCCCTCTACCTGTATATATGTATTTAACATCCCAAGCGATCATAATGTGCCACCAGGATGGAGAAAACTGCGGTGATGCGGCACTTCCCAAACACTAATGTCGTGCACGTGAACGTCAAGGACCTGTTAACATGAAGATTTTGATTTGGTAGGTCTGCTGCGCATAATGAAATCCTGCTTTTCTAACAGGCTCCTGGGTGATGCGGATGCTGCTGGGAAATGTTAGACATGCAGAATCCCAGGCCCCCACCCCCAACCTATAGAATCAGAATCTTCATCTTAACAAAATCCCCAGATGATTTACAAGCACCTCAAAGTTTGAGAAGAACTGTTCTGGGGTTCCCGTGGTGTGACAGCCATGGTGCTTGAGGGCTCAAAGGTCCAAATCCCTGGTGCGGGACCCTTCAGATAACTCAGTTGTTACCCTAATGTAGGAGCACATTTGGAATACACCCACCTTGTCCCAGACTCTCCCCAGCCCAGCACCACCTTCTCTCACCAATCCCCGTCAGAATAGAATCTCCTTGTATGCAGGTACAACATGGCTCATTTTTATATTTCCCAACGGTAGAATGTCTTGCACACAGAAGACTCCTAATGGATATTTCCTAAATTTTGCTGAACAGAATTTAACTTGAGCTGGCAACAGGCAGACTATGCACTTAGGTAGACATGCATTTAGTTTTGCCTTTTAATATTATAAATCTCTTTGGCTACATTCAAGGTAAACCTGGTATTGAAGCAAACTCTTTTTTATTTTTTTTTAGAGACAGGGTTTCATTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGAACATAGCTCACTGTAGCCTCAACCTCTGGGGGCTTGAGCAATCCTCCCACCTCAGCCTCCTGAGTATCTGGGACTACAGGCATGCACCACCACACCCAGCTAATTTTTCGTATTTTTTCTAGAGATAGGATCTCTGTGTTGCCCAGGCTGGTTTTGAACTCCTAGGCTCAAGCGATCCACCCACATTGGCCTCCCCAAGTGCTGGGATTACAGGCAAGGAGCCACTGCACCTGGCTGAAGCAAATGTTAATTACACGTTTCAATTATACAAATGCAAAGGGGAACTCTTAAAACTACTGCCAAAATTCACGACCCAATGTCAGCGCAGTCAGATCACTTGCCTGCATCTCAATGCCTCGCTCAAGTATCTCTTTTAAAACAACAGAATACTGTAATTTGTTAGTTGTCTAGAGTCTGACATAAATTTTTAGAGGAGAAAAACCAAATATAATATATTTATTTTGATTGTTTCCTGAGAGGATCAAGACTGGAAACCACTGCATCCTGGGGATCCCATGTTTTTAACTCTTGATGGGAAGACGATCCCACTGGGCGGAGACTGTACCGTGTACCCCGTGTTTGTGAATGAGGCCGCATATTACGAAAAGAAAGAAGCTTTTGCAAAGACAACTAAACTAACGCTCAATGCAAAAAGTATTCGCTGCTGTTTACATTAGAAATCACTTCCAGCTTACATCTTACACGGTGTCTTACAAATTCTGCTAGTCTGTAAGCTCCTTAAGAGTAGGGTTGTGCCTTATTCAACTGCATACATAGCTCCTAGCACAGTGCCTTATTCGGTAGGCATCTAAGCACATTTCTTAAATTAATTAATATATCTTTAAAGATATCATATTTTATGTATGTAGCTTATTCAAAGAAGTGTTTCCTATTTCTATATAGTTTATTATACATGATACTTGGGTAGCTCAACATTCTTAATAAACAGCCTTTGTATTCAGAATATAAAATTGAAATAGATATATATAAAGTTATTTGTTTTATTGTGCTTTGCCTTACTACACTTCACGGATACTGTACTTGTACTTTTTTTCCAAATTGAAGGTTTTTGGCAACCCTGTGTCTAGAAAGTCTAACAGTGCCATGTTTCCAACAGCATGTGCTCACTCCTTGTCTCTGTGTCACCCTTTGATAATATTTCAAGCTTTTTTATGATTTATTTATTATATCTGCTATGGTGATCTGTGATCAGTGGCCTTTGATGTTACTGTTGTTAAGTGTTTTGGGGCACCATGAATCGTGCCCATGTGAGACTGCGAACTTAGTGAATGTTGTGTGAGTTCTAACTGCTCTACTGACCGGCCATTTCCTTGTCTCTCTCCCTGTCCTCTGGCCTCCCTGTTCCTTGAGACACAATAATTAATAAGTCTACAGCAGACTCTGTGTGTTCAAGTGAAAGAAAGGGTCATACTTCTAGAAATTAAGCTTAGTAAGGAAGGCATGTCAAAAGCTGAGACAGGCTGAAAGCTAGGCCTCTTGCACTGGTTAGCCAAGTTGTGAATTCAAAGAAAAGGATCTTGAAGAAAATTAAAAATTCTACTCCAGTGCACACACACAAATGATAAGAAAGCAAAACAACCTTATTGCTGATATGGAGACAGTTTTAGTGGTCTGGATAGAAGATCAAACCAGCCACACATTAAGCCAAAGCATGACCCACAGCAAGGCCCTAACTCTCTTCAATTCTGTGAAGGCTGAGAGAGGTGAGGAAGCTGCAGGAAGCTGGGAGAGGTTGGTTCACAAGGTTTAAGGAAAGAAGACAGCTCTAAAACCTACAAGTGGAAAGCGAACCAGCAAGTTGCTGATGTGGAAGCTGTAGCAAGTTATCCAGAAGATGTAGCTAAAATCATTGACAAAGATGGCTACACTAAACAACGGATCTTCAGTGTAGTTGAAACAGCCTTCTATTGGAAGAAGATGCTATCTAGGACTTTCCTAGCTAGAGGGGAGAAATGAATGCCTAGCTTCAAAGCTTCAAAGGACAGCCTGACTCTCTTAAGAGCTAACACAGCTGGTGACTTTGGGTTAAAGCCAAAGCTCATTAACTGTTTCAAAAATCCTAAAACTCTTGTTTTTTGTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGAGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGCATTTTTTTAGTAGAGATGGGGTTTCACTCTGCTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCCAAAAATCGTAGGACTCTGAAGACTGATGCTAAACCTGCTGTGTCTGAGCTCTATAAATGGAACAACAAAGCCTCGCTGGCAGCACATCTGTTTGCGGCATGGTTTACTGTATATTTTAAGCCCACTGTTGAGACCTACTGCTTGGGAAAAAAAAAAATTCCTTTCAAAATACTACTGCTGATTGACAATACACCATGTTACCCAAGAGCTCTGCTGGAGATGTGCGAAGAGATTAGCATTGTTTTCGCGCCTGCTACCACGACATCCAGCCGAAGCCCATGGATCAAGGCGTCATTGTGACTT
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GCTGAGATTGTGCCACTGCACTCCAGCCTGGACAGAGCTGAGATTACGTCTAAAAAGAAAAAGAAAAAATGCTGATTTCTGAGTCCTCTTCCCAGGGGCTCTGATCTAATTCATCAGGGTGTAGACAGGGAATCAATTGAGTTCACCAGGTGATTTTCATGTGGCTCAGGTCTGGATAGCACTGCACAATGTCGGAATCTCCACAGGTGGGGCTAGCCAGACGTGTGTTGAAGAGGTTCCTTTAGTGATTCTGGGGCAAGTCTCTGCCTGAAAAACCACCGGTTCAGAGAAATAGTTCTCAGCCGAGCCACCCTGTAAATCATCTGGGGCCTAAATACAATAAACACAGAAAACAGTGAACTATAAATGGGTAGCATGAGGGATTCGAGGAGGTGGCTGAAAGAAGCACGTATCCTGATGGCATGGTTGCGGGTTATATGACTCCATGCTCTGCAAGTCAGAACTCATAGAACTGCACACAAAAATGAGCGAATTTCACTGTAGGTAAATTTAAAAATAAAATATAAAAATAATGATGCCTAGGCCCTCCTCTCAGATTCTGATTTGATTTATCTGAAATGGGCCAGCCCCTCTACCTGTATATATGTATTTAACATCCCAAGCGATCATAATGTGCCACCAGGATGGAGAAAACTGCGGTGATGCGGCACTTCCCAAACACTAATGTCGTGCACGTGAACGTCAAGGACCTGTTAACATGAAGATTTTGATTTGGTAGGTCTGCTGCGCATAATGAAATCCTGCTTTTCTAACAGGCTCCTGGGTGATGCGGATGCTGCTGGGAAATGTTAGACATGCAGAATCCCAGGCCCCCACCCCCAACCTATAGAATCAGAATCTTCATCTTAACAAAATCCCCAGATGATTTACAAGCACCTCAAAGTTTGAGAAGAACTGTTCTGGGGTTCCCGTGGTGTGACAGCCATGGTGCTTGAGGGCTCAAAGGTCCAAATCCCTGGTGCGGGACCCTTCAGATAACTCAGTTGTTACCCTAATGTAGGAGCACATTTGGAATACACCCACCTTGTCCCAGACTCTCCCCAGCCCAGCACCACCTTCTCTCACCAATCCCCGTCAGAATAGAATCTCCTTGTATGCAGGTACAACATGGCTCATTTTTATATTTCCCAACGGTAGAATGTCTTGCACACAGAAGACTCCTAATGGATATTTCCTAAATTTTGCTGAACAGAATTTAACTTGAGCTGGCAACAGGCAGACTATGCACTTAGGTAGACATGCATTTAGTTTTGCCTTTTAATATTATAAATCTCTTTGGCTACATTCAAGGTAAACCTGGTATTGAAGCAAACTCTTTTTTATTTTTTTTTAGAGACAGGGTTTCATTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGAACATAGCTCACTGTAGCCTCAACCTCTGGGGGCTTGAGCAATCCTCCCACCTCAGCCTCCTGAGTATCTGGGACTACAGGCATGCACCACCACACCCAGCTAATTTTTCGTATTTTTTCTAGAGATAGGATCTCTGTGTTGCCCAGGCTGGTTTTGAACTCCTAGGCTCAAGCGATCCACCCACATTGGCCTCCCCAAGTGCTGGGATTACAGGCAAGGAGCCACTGCACCTGGCTGAAGCAAATGTTAATTACACGTTTCAATTATACAAATGCAAAGGGGAACTCTTAAAACTACTGCCAAAATTCACGACCCAATGTCAGCGCAGTCAGATCACTTGCCTGCATCTCAATGCCTCGCTCAAGTATCTCTTTTAAAACAACAGAATACTGTAATTTGTTAGTTGTCTAGAGTCTGACATAAATTTTTAGAGGAGAAAAACCAAATATAATATATTTATTTTGATTGTTTCCTGAGAGGATCAAGACTGGAAACCACTGCATCCTGGGGATCCCATGTTTTTAACTCTTGATGGGAAGACGATCCCACTGGGCGGAGACTGTACCGTGTACCCCGTGTTTGTGAATGAGGCCGCATATTACGAAAAGAAAGAAGCTTTTGCAAAGACAACTAAACTAACGCTCAATGAAAAAAGTATTCGCTGCTGTTTACATTAGAAATCACTTCCAGCTTACATCTTACACGGTGTCTTACAAATTCTGCTAGTCTGTAAGCTCCTTAAGAGTAGGGTTGTGCCTTATTCAACTGCATACATAGCTCCTAGCACAGTGCCTTATTCGGTAGGCATCTAAGCACATTTCTTAAATTAATTAATATATCTTTAAAGATATCATATTTTATGTATGTAGCTTATTCAAAGAAGTGTTTCCTATTTCTATATAGTTTATTATACATGATACTTGGGTAGCTCAACATTCTTAATAAACAGCCTTTGTATTCAGAATATAAAATTGAAATAGATATATATAAAGTTATTTGTTTTATTGTGCTTTGCCTTACTACACTTCACGGATACTGTACTTGTACTTTTTTTCCAAATTGAAGGTTTTTGGCAACCCTGTGTCTAGAAAGTCTAACAGTGCCATGTTTCCAACAGCATGTGCTCACTCCTTGTCTCTGTGTCACCCTTTGATAATATTTCAAGCTTTTTTATGATTTATTTATTATATCTGCTATGGTGATCTGTGATCAGTGGCCTTTGATGTTACTGTTGTTAAGTGTTTTGGGGCACCATGAATCGTGCCCATGTGAGACTGCGAACTTAGTGAATGTTGTGTGAGTTCTAACTGCTCTACTGACCGGCCATTTCCTTGTCTCTCTCCCTGTCCTCTGGCCTCCCTGTTCCTTGAGACACAATAATTAATAAGTCTACAGCAGACTCTGTGTGTTCAAGTGAAAGAAAGGGTCATACTTCTAGAAATTAAGCTTAGTAAGGAAGGCATGTCAAAAGCTGAGACAGGCTGAAAGCTAGGCCTCTTGCACTGGTTAGCCAAGTTGTGAATTCAAAGAAAAGGATCTTGAAGAAAATTAAAAATTCTACTCCAGTGCACACACACAAATGATAAGAAAGCAAAACAACCTTATTGCTGATATGGAGACAGTTTTAGTGGTCTGGATAGAAGATCAAACCAGCCACACATTAAGCCAAAGCATGACCCACAGCAAGGCCCTAACTCTCTTCAATTCTGTGAAGGCTGAGAGAGGTGAGGAAGCTGCAGGAAGCTGGGAGAGGTTGGTTCACAAGGTTTAAGGAAAGAAGACAGCTCTAAAACCTACAAGTGGAAAGCGAACCAGCAAGTTGCTGATGTGGAAGCTGTAGCAAGTTATCCAGAAGATGTAGCTAAAATCATTGACAAAGATGGCTACACTAAACAACGGATCTTCAGTGTAGTTGAAACAGCCTTCTATTGGAAGAAGATGCTATCTAGGACTTTCCTAGCTAGAGGGGAGAAATGAATGCCTAGCTTCAAAGCTTCAAAGGACAGCCTGACTCTCTTAAGAGCTAACACAGCTGGTGACTTTGGGTTAAAGCCAAAGCTCATTAACTGTTTCAAAAATCCTAAAACTCTTGTTTTTTGTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGAGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGCATTTTTTTAGTAGAGATGGGGTTTCACTCTGCTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCCAAAAATCGTAGGACTCTGAAGACTGATGCTAAACCTGCTGTGTCTGAGCTCTATAAATGGAACAACAAAGCCTCGCTGGCAGCACATCTGTTTGCGGCATGGTTTACTGTATATTTTAAGCCCACTGTTGAGACCTACTGCTTGGGAAAAAAAAAAATTCCTTTCAAAATACTACTGCTGATTGACAATACACCATGTTACCCAAGAGCTCTGCTGGAGATGTGCGAAGAGATTAGCATTGTTTTCGCGCCTGCTACCACGACATCCAGCCGAAGCCCATGGATCAAGGCGTCATTGTGACTT
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Task1_train_23218
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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?
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Pathogenic; Spongy degeneration of central nervous system
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GCTGAGATTGTGCCACTGCACTCCAGCCTGGACAGAGCTGAGATTACGTCTAAAAAGAAAAAGAAAAAATGCTGATTTCTGAGTCCTCTTCCCAGGGGCTCTGATCTAATTCATCAGGGTGTAGACAGGGAATCAATTGAGTTCACCAGGTGATTTTCATGTGGCTCAGGTCTGGATAGCACTGCACAATGTCGGAATCTCCACAGGTGGGGCTAGCCAGACGTGTGTTGAAGAGGTTCCTTTAGTGATTCTGGGGCAAGTCTCTGCCTGAAAAACCACCGGTTCAGAGAAATAGTTCTCAGCCGAGCCACCCTGTAAATCATCTGGGGCCTAAATACAATAAACACAGAAAACAGTGAACTATAAATGGGTAGCATGAGGGATTCGAGGAGGTGGCTGAAAGAAGCACGTATCCTGATGGCATGGTTGCGGGTTATATGACTCCATGCTCTGCAAGTCAGAACTCATAGAACTGCACACAAAAATGAGCGAATTTCACTGTAGGTAAATTTAAAAATAAAATATAAAAATAATGATGCCTAGGCCCTCCTCTCAGATTCTGATTTGATTTATCTGAAATGGGCCAGCCCCTCTACCTGTATATATGTATTTAACATCCCAAGCGATCATAATGTGCCACCAGGATGGAGAAAACTGCGGTGATGCGGCACTTCCCAAACACTAATGTCGTGCACGTGAACGTCAAGGACCTGTTAACATGAAGATTTTGATTTGGTAGGTCTGCTGCGCATAATGAAATCCTGCTTTTCTAACAGGCTCCTGGGTGATGCGGATGCTGCTGGGAAATGTTAGACATGCAGAATCCCAGGCCCCCACCCCCAACCTATAGAATCAGAATCTTCATCTTAACAAAATCCCCAGATGATTTACAAGCACCTCAAAGTTTGAGAAGAACTGTTCTGGGGTTCCCGTGGTGTGACAGCCATGGTGCTTGAGGGCTCAAAGGTCCAAATCCCTGGTGCGGGACCCTTCAGATAACTCAGTTGTTACCCTAATGTAGGAGCACATTTGGAATACACCCACCTTGTCCCAGACTCTCCCCAGCCCAGCACCACCTTCTCTCACCAATCCCCGTCAGAATAGAATCTCCTTGTATGCAGGTACAACATGGCTCATTTTTATATTTCCCAACGGTAGAATGTCTTGCACACAGAAGACTCCTAATGGATATTTCCTAAATTTTGCTGAACAGAATTTAACTTGAGCTGGCAACAGGCAGACTATGCACTTAGGTAGACATGCATTTAGTTTTGCCTTTTAATATTATAAATCTCTTTGGCTACATTCAAGGTAAACCTGGTATTGAAGCAAACTCTTTTTTATTTTTTTTTAGAGACAGGGTTTCATTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGAACATAGCTCACTGTAGCCTCAACCTCTGGGGGCTTGAGCAATCCTCCCACCTCAGCCTCCTGAGTATCTGGGACTACAGGCATGCACCACCACACCCAGCTAATTTTTCGTATTTTTTCTAGAGATAGGATCTCTGTGTTGCCCAGGCTGGTTTTGAACTCCTAGGCTCAAGCGATCCACCCACATTGGCCTCCCCAAGTGCTGGGATTACAGGCAAGGAGCCACTGCACCTGGCTGAAGCAAATGTTAATTACACGTTTCAATTATACAAATGCAAAGGGGAACTCTTAAAACTACTGCCAAAATTCACGACCCAATGTCAGCGCAGTCAGATCACTTGCCTGCATCTCAATGCCTCGCTCAAGTATCTCTTTTAAAACAACAGAATACTGTAATTTGTTAGTTGTCTAGAGTCTGACATAAATTTTTAGAGGAGAAAAACCAAATATAATATATTTATTTTGATTGTTTCCTGAGAGGATCAAGACTGGAAACCACTGCATCCTGGGGATCCCATGTTTTTAACTCTTGATGGGAAGACGATCCCACTGGGCGGAGACTGTACCGTGTACCCCGTGTTTGTGAATGAGGCCGCATATTACGAAAAGAAAGAAGCTTTTGCAAAGACAACTAAACTAACGCTCAATGCAAAAAGTATTCGCTGCTGTTTACATTAGAAATCACTTCCAGCTTACATCTTACACGGTGTCTTACAAATTCTGCTAGTCTGTAAGCTCCTTAAGAGTAGGGTTGTGCCTTATTCAACTGCATACATAGCTCCTAGCACAGTGCCTTATTCGGTAGGCATCTAAGCACATTTCTTAAATTAATTAATATATCTTTAAAGATATCATATTTTATGTATGTAGCTTATTCAAAGAAGTGTTTCCTATTTCTATATAGTTTATTATACATGATACTTGGGTAGCTCAACATTCTTAATAAACAGCCTTTGTATTCAGAATATAAAATTGAAATAGATATATATAAAGTTATTTGTTTTATTGTGCTTTGCCTTACTACACTTCACGGATACTGTACTTGTACTTTTTTTCCAAATTGAAGGTTTTTGGCAACCCTGTGTCTAGAAAGTCTAACAGTGCCATGTTTCCAACAGCATGTGCTCACTCCTTGTCTCTGTGTCACCCTTTGATAATATTTCAAGCTTTTTTATGATTTATTTATTATATCTGCTATGGTGATCTGTGATCAGTGGCCTTTGATGTTACTGTTGTTAAGTGTTTTGGGGCACCATGAATCGTGCCCATGTGAGACTGCGAACTTAGTGAATGTTGTGTGAGTTCTAACTGCTCTACTGACCGGCCATTTCCTTGTCTCTCTCCCTGTCCTCTGGCCTCCCTGTTCCTTGAGACACAATAATTAATAAGTCTACAGCAGACTCTGTGTGTTCAAGTGAAAGAAAGGGTCATACTTCTAGAAATTAAGCTTAGTAAGGAAGGCATGTCAAAAGCTGAGACAGGCTGAAAGCTAGGCCTCTTGCACTGGTTAGCCAAGTTGTGAATTCAAAGAAAAGGATCTTGAAGAAAATTAAAAATTCTACTCCAGTGCACACACACAAATGATAAGAAAGCAAAACAACCTTATTGCTGATATGGAGACAGTTTTAGTGGTCTGGATAGAAGATCAAACCAGCCACACATTAAGCCAAAGCATGACCCACAGCAAGGCCCTAACTCTCTTCAATTCTGTGAAGGCTGAGAGAGGTGAGGAAGCTGCAGGAAGCTGGGAGAGGTTGGTTCACAAGGTTTAAGGAAAGAAGACAGCTCTAAAACCTACAAGTGGAAAGCGAACCAGCAAGTTGCTGATGTGGAAGCTGTAGCAAGTTATCCAGAAGATGTAGCTAAAATCATTGACAAAGATGGCTACACTAAACAACGGATCTTCAGTGTAGTTGAAACAGCCTTCTATTGGAAGAAGATGCTATCTAGGACTTTCCTAGCTAGAGGGGAGAAATGAATGCCTAGCTTCAAAGCTTCAAAGGACAGCCTGACTCTCTTAAGAGCTAACACAGCTGGTGACTTTGGGTTAAAGCCAAAGCTCATTAACTGTTTCAAAAATCCTAAAACTCTTGTTTTTTGTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGAGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGCATTTTTTTAGTAGAGATGGGGTTTCACTCTGCTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCCAAAAATCGTAGGACTCTGAAGACTGATGCTAAACCTGCTGTGTCTGAGCTCTATAAATGGAACAACAAAGCCTCGCTGGCAGCACATCTGTTTGCGGCATGGTTTACTGTATATTTTAAGCCCACTGTTGAGACCTACTGCTTGGGAAAAAAAAAAATTCCTTTCAAAATACTACTGCTGATTGACAATACACCATGTTACCCAAGAGCTCTGCTGGAGATGTGCGAAGAGATTAGCATTGTTTTCGCGCCTGCTACCACGACATCCAGCCGAAGCCCATGGATCAAGGCGTCATTGTGACTT
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GCTGAGATTGTGCCACTGCACTCCAGCCTGGACAGAGCTGAGATTACGTCTAAAAAGAAAAAGAAAAAATGCTGATTTCTGAGTCCTCTTCCCAGGGGCTCTGATCTAATTCATCAGGGTGTAGACAGGGAATCAATTGAGTTCACCAGGTGATTTTCATGTGGCTCAGGTCTGGATAGCACTGCACAATGTCGGAATCTCCACAGGTGGGGCTAGCCAGACGTGTGTTGAAGAGGTTCCTTTAGTGATTCTGGGGCAAGTCTCTGCCTGAAAAACCACCGGTTCAGAGAAATAGTTCTCAGCCGAGCCACCCTGTAAATCATCTGGGGCCTAAATACAATAAACACAGAAAACAGTGAACTATAAATGGGTAGCATGAGGGATTCGAGGAGGTGGCTGAAAGAAGCACGTATCCTGATGGCATGGTTGCGGGTTATATGACTCCATGCTCTGCAAGTCAGAACTCATAGAACTGCACACAAAAATGAGCGAATTTCACTGTAGGTAAATTTAAAAATAAAATATAAAAATAATGATGCCTAGGCCCTCCTCTCAGATTCTGATTTGATTTATCTGAAATGGGCCAGCCCCTCTACCTGTATATATGTATTTAACATCCCAAGCGATCATAATGTGCCACCAGGATGGAGAAAACTGCGGTGATGCGGCACTTCCCAAACACTAATGTCGTGCACGTGAACGTCAAGGACCTGTTAACATGAAGATTTTGATTTGGTAGGTCTGCTGCGCATAATGAAATCCTGCTTTTCTAACAGGCTCCTGGGTGATGCGGATGCTGCTGGGAAATGTTAGACATGCAGAATCCCAGGCCCCCACCCCCAACCTATAGAATCAGAATCTTCATCTTAACAAAATCCCCAGATGATTTACAAGCACCTCAAAGTTTGAGAAGAACTGTTCTGGGGTTCCCGTGGTGTGACAGCCATGGTGCTTGAGGGCTCAAAGGTCCAAATCCCTGGTGCGGGACCCTTCAGATAACTCAGTTGTTACCCTAATGTAGGAGCACATTTGGAATACACCCACCTTGTCCCAGACTCTCCCCAGCCCAGCACCACCTTCTCTCACCAATCCCCGTCAGAATAGAATCTCCTTGTATGCAGGTACAACATGGCTCATTTTTATATTTCCCAACGGTAGAATGTCTTGCACACAGAAGACTCCTAATGGATATTTCCTAAATTTTGCTGAACAGAATTTAACTTGAGCTGGCAACAGGCAGACTATGCACTTAGGTAGACATGCATTTAGTTTTGCCTTTTAATATTATAAATCTCTTTGGCTACATTCAAGGTAAACCTGGTATTGAAGCAAACTCTTTTTTATTTTTTTTTAGAGACAGGGTTTCATTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGAACATAGCTCACTGTAGCCTCAACCTCTGGGGGCTTGAGCAATCCTCCCACCTCAGCCTCCTGAGTATCTGGGACTACAGGCATGCACCACCACACCCAGCTAATTTTTCGTATTTTTTCTAGAGATAGGATCTCTGTGTTGCCCAGGCTGGTTTTGAACTCCTAGGCTCAAGCGATCCACCCACATTGGCCTCCCCAAGTGCTGGGATTACAGGCAAGGAGCCACTGCACCTGGCTGAAGCAAATGTTAATTACACGTTTCAATTATACAAATGCAAAGGGGAACTCTTAAAACTACTGCCAAAATTCACGACCCAATGTCAGCGCAGTCAGATCACTTGCCTGCATCTCAATGCCTCGCTCAAGTATCTCTTTTAAAACAACAGAATACTGTAATTTGTTAGTTGTCTAGAGTCTGACATAAATTTTTAGAGGAGAAAAACCAAATATAATATATTTATTTTGATTGTTTCCTGAGAGGATCAAGACTGGAAACCACTGCATCCTGGGGATCCCATGTTTTTAACTCTTGATGGGAAGACGATCCCACTGGGCGGAGACTGTACCGTGTACCCCGTGTTTGTGAATGAGGCCGCATATTACGAAAAGAAAGAAGCTTTTGCAAAGACAACTAAACTAACGCTCAATGAAAAAAGTATTCGCTGCTGTTTACATTAGAAATCACTTCCAGCTTACATCTTACACGGTGTCTTACAAATTCTGCTAGTCTGTAAGCTCCTTAAGAGTAGGGTTGTGCCTTATTCAACTGCATACATAGCTCCTAGCACAGTGCCTTATTCGGTAGGCATCTAAGCACATTTCTTAAATTAATTAATATATCTTTAAAGATATCATATTTTATGTATGTAGCTTATTCAAAGAAGTGTTTCCTATTTCTATATAGTTTATTATACATGATACTTGGGTAGCTCAACATTCTTAATAAACAGCCTTTGTATTCAGAATATAAAATTGAAATAGATATATATAAAGTTATTTGTTTTATTGTGCTTTGCCTTACTACACTTCACGGATACTGTACTTGTACTTTTTTTCCAAATTGAAGGTTTTTGGCAACCCTGTGTCTAGAAAGTCTAACAGTGCCATGTTTCCAACAGCATGTGCTCACTCCTTGTCTCTGTGTCACCCTTTGATAATATTTCAAGCTTTTTTATGATTTATTTATTATATCTGCTATGGTGATCTGTGATCAGTGGCCTTTGATGTTACTGTTGTTAAGTGTTTTGGGGCACCATGAATCGTGCCCATGTGAGACTGCGAACTTAGTGAATGTTGTGTGAGTTCTAACTGCTCTACTGACCGGCCATTTCCTTGTCTCTCTCCCTGTCCTCTGGCCTCCCTGTTCCTTGAGACACAATAATTAATAAGTCTACAGCAGACTCTGTGTGTTCAAGTGAAAGAAAGGGTCATACTTCTAGAAATTAAGCTTAGTAAGGAAGGCATGTCAAAAGCTGAGACAGGCTGAAAGCTAGGCCTCTTGCACTGGTTAGCCAAGTTGTGAATTCAAAGAAAAGGATCTTGAAGAAAATTAAAAATTCTACTCCAGTGCACACACACAAATGATAAGAAAGCAAAACAACCTTATTGCTGATATGGAGACAGTTTTAGTGGTCTGGATAGAAGATCAAACCAGCCACACATTAAGCCAAAGCATGACCCACAGCAAGGCCCTAACTCTCTTCAATTCTGTGAAGGCTGAGAGAGGTGAGGAAGCTGCAGGAAGCTGGGAGAGGTTGGTTCACAAGGTTTAAGGAAAGAAGACAGCTCTAAAACCTACAAGTGGAAAGCGAACCAGCAAGTTGCTGATGTGGAAGCTGTAGCAAGTTATCCAGAAGATGTAGCTAAAATCATTGACAAAGATGGCTACACTAAACAACGGATCTTCAGTGTAGTTGAAACAGCCTTCTATTGGAAGAAGATGCTATCTAGGACTTTCCTAGCTAGAGGGGAGAAATGAATGCCTAGCTTCAAAGCTTCAAAGGACAGCCTGACTCTCTTAAGAGCTAACACAGCTGGTGACTTTGGGTTAAAGCCAAAGCTCATTAACTGTTTCAAAAATCCTAAAACTCTTGTTTTTTGTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGAGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGCATTTTTTTAGTAGAGATGGGGTTTCACTCTGCTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCCAAAAATCGTAGGACTCTGAAGACTGATGCTAAACCTGCTGTGTCTGAGCTCTATAAATGGAACAACAAAGCCTCGCTGGCAGCACATCTGTTTGCGGCATGGTTTACTGTATATTTTAAGCCCACTGTTGAGACCTACTGCTTGGGAAAAAAAAAAATTCCTTTCAAAATACTACTGCTGATTGACAATACACCATGTTACCCAAGAGCTCTGCTGGAGATGTGCGAAGAGATTAGCATTGTTTTCGCGCCTGCTACCACGACATCCAGCCGAAGCCCATGGATCAAGGCGTCATTGTGACTT
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Task1_train_23219
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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.
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Pathogenic; Canavan Disease, Familial Form
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GCTGAGATTGTGCCACTGCACTCCAGCCTGGACAGAGCTGAGATTACGTCTAAAAAGAAAAAGAAAAAATGCTGATTTCTGAGTCCTCTTCCCAGGGGCTCTGATCTAATTCATCAGGGTGTAGACAGGGAATCAATTGAGTTCACCAGGTGATTTTCATGTGGCTCAGGTCTGGATAGCACTGCACAATGTCGGAATCTCCACAGGTGGGGCTAGCCAGACGTGTGTTGAAGAGGTTCCTTTAGTGATTCTGGGGCAAGTCTCTGCCTGAAAAACCACCGGTTCAGAGAAATAGTTCTCAGCCGAGCCACCCTGTAAATCATCTGGGGCCTAAATACAATAAACACAGAAAACAGTGAACTATAAATGGGTAGCATGAGGGATTCGAGGAGGTGGCTGAAAGAAGCACGTATCCTGATGGCATGGTTGCGGGTTATATGACTCCATGCTCTGCAAGTCAGAACTCATAGAACTGCACACAAAAATGAGCGAATTTCACTGTAGGTAAATTTAAAAATAAAATATAAAAATAATGATGCCTAGGCCCTCCTCTCAGATTCTGATTTGATTTATCTGAAATGGGCCAGCCCCTCTACCTGTATATATGTATTTAACATCCCAAGCGATCATAATGTGCCACCAGGATGGAGAAAACTGCGGTGATGCGGCACTTCCCAAACACTAATGTCGTGCACGTGAACGTCAAGGACCTGTTAACATGAAGATTTTGATTTGGTAGGTCTGCTGCGCATAATGAAATCCTGCTTTTCTAACAGGCTCCTGGGTGATGCGGATGCTGCTGGGAAATGTTAGACATGCAGAATCCCAGGCCCCCACCCCCAACCTATAGAATCAGAATCTTCATCTTAACAAAATCCCCAGATGATTTACAAGCACCTCAAAGTTTGAGAAGAACTGTTCTGGGGTTCCCGTGGTGTGACAGCCATGGTGCTTGAGGGCTCAAAGGTCCAAATCCCTGGTGCGGGACCCTTCAGATAACTCAGTTGTTACCCTAATGTAGGAGCACATTTGGAATACACCCACCTTGTCCCAGACTCTCCCCAGCCCAGCACCACCTTCTCTCACCAATCCCCGTCAGAATAGAATCTCCTTGTATGCAGGTACAACATGGCTCATTTTTATATTTCCCAACGGTAGAATGTCTTGCACACAGAAGACTCCTAATGGATATTTCCTAAATTTTGCTGAACAGAATTTAACTTGAGCTGGCAACAGGCAGACTATGCACTTAGGTAGACATGCATTTAGTTTTGCCTTTTAATATTATAAATCTCTTTGGCTACATTCAAGGTAAACCTGGTATTGAAGCAAACTCTTTTTTATTTTTTTTTAGAGACAGGGTTTCATTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGAACATAGCTCACTGTAGCCTCAACCTCTGGGGGCTTGAGCAATCCTCCCACCTCAGCCTCCTGAGTATCTGGGACTACAGGCATGCACCACCACACCCAGCTAATTTTTCGTATTTTTTCTAGAGATAGGATCTCTGTGTTGCCCAGGCTGGTTTTGAACTCCTAGGCTCAAGCGATCCACCCACATTGGCCTCCCCAAGTGCTGGGATTACAGGCAAGGAGCCACTGCACCTGGCTGAAGCAAATGTTAATTACACGTTTCAATTATACAAATGCAAAGGGGAACTCTTAAAACTACTGCCAAAATTCACGACCCAATGTCAGCGCAGTCAGATCACTTGCCTGCATCTCAATGCCTCGCTCAAGTATCTCTTTTAAAACAACAGAATACTGTAATTTGTTAGTTGTCTAGAGTCTGACATAAATTTTTAGAGGAGAAAAACCAAATATAATATATTTATTTTGATTGTTTCCTGAGAGGATCAAGACTGGAAACCACTGCATCCTGGGGATCCCATGTTTTTAACTCTTGATGGGAAGACGATCCCACTGGGCGGAGACTGTACCGTGTACCCCGTGTTTGTGAATGAGGCCGCATATTACGAAAAGAAAGAAGCTTTTGCAAAGACAACTAAACTAACGCTCAATGCAAAAAGTATTCGCTGCTGTTTACATTAGAAATCACTTCCAGCTTACATCTTACACGGTGTCTTACAAATTCTGCTAGTCTGTAAGCTCCTTAAGAGTAGGGTTGTGCCTTATTCAACTGCATACATAGCTCCTAGCACAGTGCCTTATTCGGTAGGCATCTAAGCACATTTCTTAAATTAATTAATATATCTTTAAAGATATCATATTTTATGTATGTAGCTTATTCAAAGAAGTGTTTCCTATTTCTATATAGTTTATTATACATGATACTTGGGTAGCTCAACATTCTTAATAAACAGCCTTTGTATTCAGAATATAAAATTGAAATAGATATATATAAAGTTATTTGTTTTATTGTGCTTTGCCTTACTACACTTCACGGATACTGTACTTGTACTTTTTTTCCAAATTGAAGGTTTTTGGCAACCCTGTGTCTAGAAAGTCTAACAGTGCCATGTTTCCAACAGCATGTGCTCACTCCTTGTCTCTGTGTCACCCTTTGATAATATTTCAAGCTTTTTTATGATTTATTTATTATATCTGCTATGGTGATCTGTGATCAGTGGCCTTTGATGTTACTGTTGTTAAGTGTTTTGGGGCACCATGAATCGTGCCCATGTGAGACTGCGAACTTAGTGAATGTTGTGTGAGTTCTAACTGCTCTACTGACCGGCCATTTCCTTGTCTCTCTCCCTGTCCTCTGGCCTCCCTGTTCCTTGAGACACAATAATTAATAAGTCTACAGCAGACTCTGTGTGTTCAAGTGAAAGAAAGGGTCATACTTCTAGAAATTAAGCTTAGTAAGGAAGGCATGTCAAAAGCTGAGACAGGCTGAAAGCTAGGCCTCTTGCACTGGTTAGCCAAGTTGTGAATTCAAAGAAAAGGATCTTGAAGAAAATTAAAAATTCTACTCCAGTGCACACACACAAATGATAAGAAAGCAAAACAACCTTATTGCTGATATGGAGACAGTTTTAGTGGTCTGGATAGAAGATCAAACCAGCCACACATTAAGCCAAAGCATGACCCACAGCAAGGCCCTAACTCTCTTCAATTCTGTGAAGGCTGAGAGAGGTGAGGAAGCTGCAGGAAGCTGGGAGAGGTTGGTTCACAAGGTTTAAGGAAAGAAGACAGCTCTAAAACCTACAAGTGGAAAGCGAACCAGCAAGTTGCTGATGTGGAAGCTGTAGCAAGTTATCCAGAAGATGTAGCTAAAATCATTGACAAAGATGGCTACACTAAACAACGGATCTTCAGTGTAGTTGAAACAGCCTTCTATTGGAAGAAGATGCTATCTAGGACTTTCCTAGCTAGAGGGGAGAAATGAATGCCTAGCTTCAAAGCTTCAAAGGACAGCCTGACTCTCTTAAGAGCTAACACAGCTGGTGACTTTGGGTTAAAGCCAAAGCTCATTAACTGTTTCAAAAATCCTAAAACTCTTGTTTTTTGTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGAGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGCATTTTTTTAGTAGAGATGGGGTTTCACTCTGCTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCCAAAAATCGTAGGACTCTGAAGACTGATGCTAAACCTGCTGTGTCTGAGCTCTATAAATGGAACAACAAAGCCTCGCTGGCAGCACATCTGTTTGCGGCATGGTTTACTGTATATTTTAAGCCCACTGTTGAGACCTACTGCTTGGGAAAAAAAAAAATTCCTTTCAAAATACTACTGCTGATTGACAATACACCATGTTACCCAAGAGCTCTGCTGGAGATGTGCGAAGAGATTAGCATTGTTTTCGCGCCTGCTACCACGACATCCAGCCGAAGCCCATGGATCAAGGCGTCATTGTGACTT
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GCTGAGATTGTGCCACTGCACTCCAGCCTGGACAGAGCTGAGATTACGTCTAAAAAGAAAAAGAAAAAATGCTGATTTCTGAGTCCTCTTCCCAGGGGCTCTGATCTAATTCATCAGGGTGTAGACAGGGAATCAATTGAGTTCACCAGGTGATTTTCATGTGGCTCAGGTCTGGATAGCACTGCACAATGTCGGAATCTCCACAGGTGGGGCTAGCCAGACGTGTGTTGAAGAGGTTCCTTTAGTGATTCTGGGGCAAGTCTCTGCCTGAAAAACCACCGGTTCAGAGAAATAGTTCTCAGCCGAGCCACCCTGTAAATCATCTGGGGCCTAAATACAATAAACACAGAAAACAGTGAACTATAAATGGGTAGCATGAGGGATTCGAGGAGGTGGCTGAAAGAAGCACGTATCCTGATGGCATGGTTGCGGGTTATATGACTCCATGCTCTGCAAGTCAGAACTCATAGAACTGCACACAAAAATGAGCGAATTTCACTGTAGGTAAATTTAAAAATAAAATATAAAAATAATGATGCCTAGGCCCTCCTCTCAGATTCTGATTTGATTTATCTGAAATGGGCCAGCCCCTCTACCTGTATATATGTATTTAACATCCCAAGCGATCATAATGTGCCACCAGGATGGAGAAAACTGCGGTGATGCGGCACTTCCCAAACACTAATGTCGTGCACGTGAACGTCAAGGACCTGTTAACATGAAGATTTTGATTTGGTAGGTCTGCTGCGCATAATGAAATCCTGCTTTTCTAACAGGCTCCTGGGTGATGCGGATGCTGCTGGGAAATGTTAGACATGCAGAATCCCAGGCCCCCACCCCCAACCTATAGAATCAGAATCTTCATCTTAACAAAATCCCCAGATGATTTACAAGCACCTCAAAGTTTGAGAAGAACTGTTCTGGGGTTCCCGTGGTGTGACAGCCATGGTGCTTGAGGGCTCAAAGGTCCAAATCCCTGGTGCGGGACCCTTCAGATAACTCAGTTGTTACCCTAATGTAGGAGCACATTTGGAATACACCCACCTTGTCCCAGACTCTCCCCAGCCCAGCACCACCTTCTCTCACCAATCCCCGTCAGAATAGAATCTCCTTGTATGCAGGTACAACATGGCTCATTTTTATATTTCCCAACGGTAGAATGTCTTGCACACAGAAGACTCCTAATGGATATTTCCTAAATTTTGCTGAACAGAATTTAACTTGAGCTGGCAACAGGCAGACTATGCACTTAGGTAGACATGCATTTAGTTTTGCCTTTTAATATTATAAATCTCTTTGGCTACATTCAAGGTAAACCTGGTATTGAAGCAAACTCTTTTTTATTTTTTTTTAGAGACAGGGTTTCATTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGAACATAGCTCACTGTAGCCTCAACCTCTGGGGGCTTGAGCAATCCTCCCACCTCAGCCTCCTGAGTATCTGGGACTACAGGCATGCACCACCACACCCAGCTAATTTTTCGTATTTTTTCTAGAGATAGGATCTCTGTGTTGCCCAGGCTGGTTTTGAACTCCTAGGCTCAAGCGATCCACCCACATTGGCCTCCCCAAGTGCTGGGATTACAGGCAAGGAGCCACTGCACCTGGCTGAAGCAAATGTTAATTACACGTTTCAATTATACAAATGCAAAGGGGAACTCTTAAAACTACTGCCAAAATTCACGACCCAATGTCAGCGCAGTCAGATCACTTGCCTGCATCTCAATGCCTCGCTCAAGTATCTCTTTTAAAACAACAGAATACTGTAATTTGTTAGTTGTCTAGAGTCTGACATAAATTTTTAGAGGAGAAAAACCAAATATAATATATTTATTTTGATTGTTTCCTGAGAGGATCAAGACTGGAAACCACTGCATCCTGGGGATCCCATGTTTTTAACTCTTGATGGGAAGACGATCCCACTGGGCGGAGACTGTACCGTGTACCCCGTGTTTGTGAATGAGGCCGCATATTACGAAAAGAAAGAAGCTTTTGCAAAGACAACTAAACTAACGCTCAATGAAAAAAGTATTCGCTGCTGTTTACATTAGAAATCACTTCCAGCTTACATCTTACACGGTGTCTTACAAATTCTGCTAGTCTGTAAGCTCCTTAAGAGTAGGGTTGTGCCTTATTCAACTGCATACATAGCTCCTAGCACAGTGCCTTATTCGGTAGGCATCTAAGCACATTTCTTAAATTAATTAATATATCTTTAAAGATATCATATTTTATGTATGTAGCTTATTCAAAGAAGTGTTTCCTATTTCTATATAGTTTATTATACATGATACTTGGGTAGCTCAACATTCTTAATAAACAGCCTTTGTATTCAGAATATAAAATTGAAATAGATATATATAAAGTTATTTGTTTTATTGTGCTTTGCCTTACTACACTTCACGGATACTGTACTTGTACTTTTTTTCCAAATTGAAGGTTTTTGGCAACCCTGTGTCTAGAAAGTCTAACAGTGCCATGTTTCCAACAGCATGTGCTCACTCCTTGTCTCTGTGTCACCCTTTGATAATATTTCAAGCTTTTTTATGATTTATTTATTATATCTGCTATGGTGATCTGTGATCAGTGGCCTTTGATGTTACTGTTGTTAAGTGTTTTGGGGCACCATGAATCGTGCCCATGTGAGACTGCGAACTTAGTGAATGTTGTGTGAGTTCTAACTGCTCTACTGACCGGCCATTTCCTTGTCTCTCTCCCTGTCCTCTGGCCTCCCTGTTCCTTGAGACACAATAATTAATAAGTCTACAGCAGACTCTGTGTGTTCAAGTGAAAGAAAGGGTCATACTTCTAGAAATTAAGCTTAGTAAGGAAGGCATGTCAAAAGCTGAGACAGGCTGAAAGCTAGGCCTCTTGCACTGGTTAGCCAAGTTGTGAATTCAAAGAAAAGGATCTTGAAGAAAATTAAAAATTCTACTCCAGTGCACACACACAAATGATAAGAAAGCAAAACAACCTTATTGCTGATATGGAGACAGTTTTAGTGGTCTGGATAGAAGATCAAACCAGCCACACATTAAGCCAAAGCATGACCCACAGCAAGGCCCTAACTCTCTTCAATTCTGTGAAGGCTGAGAGAGGTGAGGAAGCTGCAGGAAGCTGGGAGAGGTTGGTTCACAAGGTTTAAGGAAAGAAGACAGCTCTAAAACCTACAAGTGGAAAGCGAACCAGCAAGTTGCTGATGTGGAAGCTGTAGCAAGTTATCCAGAAGATGTAGCTAAAATCATTGACAAAGATGGCTACACTAAACAACGGATCTTCAGTGTAGTTGAAACAGCCTTCTATTGGAAGAAGATGCTATCTAGGACTTTCCTAGCTAGAGGGGAGAAATGAATGCCTAGCTTCAAAGCTTCAAAGGACAGCCTGACTCTCTTAAGAGCTAACACAGCTGGTGACTTTGGGTTAAAGCCAAAGCTCATTAACTGTTTCAAAAATCCTAAAACTCTTGTTTTTTGTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGAGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGCATTTTTTTAGTAGAGATGGGGTTTCACTCTGCTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCCAAAAATCGTAGGACTCTGAAGACTGATGCTAAACCTGCTGTGTCTGAGCTCTATAAATGGAACAACAAAGCCTCGCTGGCAGCACATCTGTTTGCGGCATGGTTTACTGTATATTTTAAGCCCACTGTTGAGACCTACTGCTTGGGAAAAAAAAAAATTCCTTTCAAAATACTACTGCTGATTGACAATACACCATGTTACCCAAGAGCTCTGCTGGAGATGTGCGAAGAGATTAGCATTGTTTTCGCGCCTGCTACCACGACATCCAGCCGAAGCCCATGGATCAAGGCGTCATTGTGACTT
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Task1_train_23220
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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.
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Pathogenic; Olmsted syndrome 1
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TTTTCTCAAACTCCAAGATGGTCCTGGCTCTCTGGGGACATAAGCAAGTCTAAGGAGTAGGCATCCACACTCACAAGCACACACAAGGGCACACACACTGTCGGGGAGCCCACTCCACCCTCACCTCATGCTTAATGCATAGATCGCAAGGGTTTGGCTAATCTACAGAATTCAAAGACAAAAAAGCAGGCCGGGCACGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTGCGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAACCCTGTTTCTACTAAAAACACAAAAATTAGGGCTGAGCGCACTGGCTCTTGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGATCAGGAGTTCGAGAGCAGCCTGGCCAACATGGCAAAAGCCGGTCTCTACTAAAAACACAAAAATTAGCTAGGCGTATGTCAGGCGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGAGGTTGGAGTTTGCAGTGAGCCGAGATCCCACCATTGCACTCCAGCCTGGGTGACAGAGCGAAACTCCATGATATAAATAATATTTCTGAAAGCCCAGGAGCTTCCTATCTGAAAGTGCTGGGGTCCTGGAATCCCATAGCAGAGGACCGTTCAAACATCATTTGTCCCACCCCCTCCCAGGCTTGGAATCTCTCTGCAGTTTCCTGGCCATAATTTTTCCAGTCTCTCTTGAATAGCATCAACAAACCAATTAAGAGGGCCTTGGACAGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGAATCGCTTTGAGCTCAGGAGTAAGCGGCCAGCCTAGGCAACATGGTGAAACCCCATCTCTACAAAAAATACAAAAATGACCCAGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGAGAATCACTTGAGCCCGGGAGGCAGAGTTTGCAGTGAGCTGATAATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGGAGGGCCTTAATAAAGAGAAACTTCCATGTGTGACATCAAAGCTTTTCTCCCTGTAGTAACCCCATGTACATCTGCCTTCCAGGACCACAGAAGGGATCTGCTCCCTCTTTCATAGGTTGTTCTGCAGATATCCAAAGGCACGCTCACCTTTTTCCAATGAGCATTTCTTTTTTTTTTTTTTTTTCTATTTTTGAGACAGAGTTTTTGCTCTGTCACCCAGGCTGCAGTGCCATGACACAATCTCAACTCGCTGCAACCTCCACCTCCTGGGTTCAAGCGATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGTACTAACACACCTGGCTAGCTTTTGTATTTTTAGTAGCGATGAGGTTTCACCATGTTGGCCAAGCTGGGCTCGAACTCTTGACCTCAGGTGATCCACCCGCTTCGGCCTTCCAAAGTGCTAAGATTACAGGGGTGAGCCACCATGCCCGGCCGCCAACCACCATTTCTTAAGAGGCAGTCTCCAGTCCTCTCCCAAACCTGGTTACCACCTCTGAACCCATCCTATGCATTGGTTTCCTCAGCATGTAAGAAGTGTTCAGGCCAGGATAGAATAGAGCAGAACTGTCACCTCCACTGTCCTAGACGCTGTACTCCTCTTAATGCAACCTAAGGTCAAACTTCAACATCCACACATCACACTGTCAACCCTGAGCAGAGCACCCCCATGAGCCTGAGTTTTTCTACACATTCTGTTGCACAGCCACACTCCCTAGACCCTACACTCAAAGAACCTAGGCTAAGGCCTCCTCAAACCTGGCCACACACTGAGGAGCTTGTGCAGATTCTCAGGCCCCACCTCAGACCCACTGGTGCTGACAGTAGTCAATGACCACGTGCTGAACTGAGTCCCGTGGAGGCCCCCACGCTGGGGTCTCCACCTAGGCTCACCTGCAGGCGCCAGATGCGTTCGCTCTCCTTGGAGACGTTCTCCACAGTCTCGCCCATCAGAGCAATGAGCATGTTGAGGAGGAGAACAAAGGTGAGGATGACATAGGTGATGAGCAGGAACAGAAAGAGAATGGGATACTTGGAGTTCTGCTGGATGTTCAGGTCACCCAGGCCTATGGTGAGCTTGAAGAGTTCCAGCACTGCGTCGCTGAAGCTGCCGTAGGAGCTGCAGTCCTTGTTGTCTTTGGGACACTTCTCGATCAGCGAGGCCAAGGCTAAGGGAACATAACAGGGTGCTCTCCTCAGCTCTCTGCCTGGTAATTACTCTACAAGCTTGCGTGTATTTGCCTACATGACAAGCCTGCTGCCTCCTTCTCTCTGGCCATTAAATCCCATCTCCAGTTTCAGGTCCTCTCAAAGCCTCATCAGGCTGGCTTCTCTGGCCTGGCCTCCTGCAGAAAGCCCTTCCACCTAACAAAGCCCAGAGTCTTCTCTCCTTCCTTTACCCCGCAGTCTGCCCTTGATCACTTGCAGCCTTGCAGAGCCACTAATTATAATCCATGTGTGTGTCCCTGGCTCCCCAGCTAGTCTTTGAGCTCCTGACTTCCTCTAGCCTGGGTCACCTCCCTCAAGGCTGTAAGATCCTGAGTCTCCTCCTAATGCTCTGTTTTGAGTTCCCTGTGAGCAAGACCAGGCTCACACTTCCCTTCTTTCCAACACACCACAGTAGAGGTTCACTGCTGAATGGTTGGATGGATGGATGGATGGATGGATGGATGGATATGGAGGGATGGATGGAGGGATGGATGATTAGATGGAGGGATGGATGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGGATGGATAGATGATTAGATGGATGGATGGATAGATGATTGGATGGATGGATGGATGGATGGGTGATTAGATGGATGGATGGATGGATGGATAGATGGATGGATGGACCAATTGATCGATGGATGGATGGATGATTAAATGGATGAATGGATGGATGACTGGATGGATGGATGGATGGATGGATGGATGATTAGATGGATGATTAGATGGATGGATGGACTGATTGATCGATGGATGGATGGATGATTGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGATGGATGAATGATTAGATGGATGGATGGATGGATGGATAGCTGGATGGATGGACCGATTGATCGATGGATGGATGATTAAATGGATGAATGGATGGATGACTGGATGGATGGATGGATGGATGGATGGATGGATGGATGATTGGATGGATGATTAGATGGATGGATGGATGGATGGATGGATGGATAGATGGATAGATCAATGGATGGATCGATGGATGAATGATTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGACGGATAGACAGGTGGATGAGCAAATTAAATGAGAGAGTAAATAGATGGATGAATAAACAAGCAGGTGAAGGAGCAAATAAATAAGCAAATTGTGACCCAGAAAAGGTACCAGACAGATGGAAACAGCTACTTAATTTCAAATGTCAATGGTCACTGAAGAAAAGAAAAAAAAGCAACTGGTACGTGGGGGAAAATGATATCTCTCTATGCAGAGGTTAGAAATACAACCAGATCGTGCTGTTCCCTCTGTTGTAAATGGAGAGATTTTAAGAGGGGGCTCCTTCCTGGTCCCAGCAGACCAGAGAGGCTCTCACAGTTGTATCTAAAGCAAACTGTGAGAGTAACGTGATGTGAAATCCAAAGGAAATCACCTCAGGGTATTAGTTTGCTCCTACTTTGCAAAGACCATCAGTTGAGTTTCTGTGGACTTTAGTTTCCGCATCTGTTAAAATGGGGCTGAAAACACTTGCAGAACCTATCTTAGGTCGTGAGGGCCACGTAAGCAATGAATGGGAAAGCCAGAGGTATATACCACATGGTGAAGTTGGATTATGAGTGGCTGGCCTGGTTTGAATCCTGGAGTCTCTAAGCCTCAGTTACCTTATGATCGGGGTGATGAT
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TTTTCTCAAACTCCAAGATGGTCCTGGCTCTCTGGGGACATAAGCAAGTCTAAGGAGTAGGCATCCACACTCACAAGCACACACAAGGGCACACACACTGTCGGGGAGCCCACTCCACCCTCACCTCATGCTTAATGCATAGATCGCAAGGGTTTGGCTAATCTACAGAATTCAAAGACAAAAAAGCAGGCCGGGCACGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTGCGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAACCCTGTTTCTACTAAAAACACAAAAATTAGGGCTGAGCGCACTGGCTCTTGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGATCAGGAGTTCGAGAGCAGCCTGGCCAACATGGCAAAAGCCGGTCTCTACTAAAAACACAAAAATTAGCTAGGCGTATGTCAGGCGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGAGGTTGGAGTTTGCAGTGAGCCGAGATCCCACCATTGCACTCCAGCCTGGGTGACAGAGCGAAACTCCATGATATAAATAATATTTCTGAAAGCCCAGGAGCTTCCTATCTGAAAGTGCTGGGGTCCTGGAATCCCATAGCAGAGGACCGTTCAAACATCATTTGTCCCACCCCCTCCCAGGCTTGGAATCTCTCTGCAGTTTCCTGGCCATAATTTTTCCAGTCTCTCTTGAATAGCATCAACAAACCAATTAAGAGGGCCTTGGACAGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGAATCGCTTTGAGCTCAGGAGTAAGCGGCCAGCCTAGGCAACATGGTGAAACCCCATCTCTACAAAAAATACAAAAATGACCCAGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGAGAATCACTTGAGCCCGGGAGGCAGAGTTTGCAGTGAGCTGATAATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGGAGGGCCTTAATAAAGAGAAACTTCCATGTGTGACATCAAAGCTTTTCTCCCTGTAGTAACCCCATGTACATCTGCCTTCCAGGACCACAGAAGGGATCTGCTCCCTCTTTCATAGGTTGTTCTGCAGATATCCAAAGGCACGCTCACCTTTTTCCAATGAGCATTTCTTTTTTTTTTTTTTTTTCTATTTTTGAGACAGAGTTTTTGCTCTGTCACCCAGGCTGCAGTGCCATGACACAATCTCAACTCGCTGCAACCTCCACCTCCTGGGTTCAAGCGATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGTACTAACACACCTGGCTAGCTTTTGTATTTTTAGTAGCGATGAGGTTTCACCATGTTGGCCAAGCTGGGCTCGAACTCTTGACCTCAGGTGATCCACCCGCTTCGGCCTTCCAAAGTGCTAAGATTACAGGGGTGAGCCACCATGCCCGGCCGCCAACCACCATTTCTTAAGAGGCAGTCTCCAGTCCTCTCCCAAACCTGGTTACCACCTCTGAACCCATCCTATGCATTGGTTTCCTCAGCATGTAAGAAGTGTTCAGGCCAGGATAGAATAGAGCAGAACTGTCACCTCCACTGTCCTAGACGCTGTACTCCTCTTAATGCAACCTAAGGTCAAACTTCAACATCCACACATCACACTGTCAACCCTGAGCAGAGCACCCCCATGAGCCTGAGTTTTTCTACACATTCTGTTGCACAGCCACACTCCCTAGACCCTACACTCAAAGAACCTAGGCTAAGGCCTCCTCAAACCTGGCCACACACTGAGGAGCTTGTGCAGATTCTCAGGCCCCACCTCAGACCCACTGGTGCTGACAGTAGTCAATGACCACGTGCTGAACTGAGTCCCGTGGAGGCCCCCACGCTGGGGTCTCCACCTAGGCTCACCTGCAGGCGCCCGATGCGTTCGCTCTCCTTGGAGACGTTCTCCACAGTCTCGCCCATCAGAGCAATGAGCATGTTGAGGAGGAGAACAAAGGTGAGGATGACATAGGTGATGAGCAGGAACAGAAAGAGAATGGGATACTTGGAGTTCTGCTGGATGTTCAGGTCACCCAGGCCTATGGTGAGCTTGAAGAGTTCCAGCACTGCGTCGCTGAAGCTGCCGTAGGAGCTGCAGTCCTTGTTGTCTTTGGGACACTTCTCGATCAGCGAGGCCAAGGCTAAGGGAACATAACAGGGTGCTCTCCTCAGCTCTCTGCCTGGTAATTACTCTACAAGCTTGCGTGTATTTGCCTACATGACAAGCCTGCTGCCTCCTTCTCTCTGGCCATTAAATCCCATCTCCAGTTTCAGGTCCTCTCAAAGCCTCATCAGGCTGGCTTCTCTGGCCTGGCCTCCTGCAGAAAGCCCTTCCACCTAACAAAGCCCAGAGTCTTCTCTCCTTCCTTTACCCCGCAGTCTGCCCTTGATCACTTGCAGCCTTGCAGAGCCACTAATTATAATCCATGTGTGTGTCCCTGGCTCCCCAGCTAGTCTTTGAGCTCCTGACTTCCTCTAGCCTGGGTCACCTCCCTCAAGGCTGTAAGATCCTGAGTCTCCTCCTAATGCTCTGTTTTGAGTTCCCTGTGAGCAAGACCAGGCTCACACTTCCCTTCTTTCCAACACACCACAGTAGAGGTTCACTGCTGAATGGTTGGATGGATGGATGGATGGATGGATGGATGGATATGGAGGGATGGATGGAGGGATGGATGATTAGATGGAGGGATGGATGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATGGATGGATAGATGATTAGATGGATGGATGGATAGATGATTGGATGGATGGATGGATGGATGGGTGATTAGATGGATGGATGGATGGATGGATAGATGGATGGATGGACCAATTGATCGATGGATGGATGGATGATTAAATGGATGAATGGATGGATGACTGGATGGATGGATGGATGGATGGATGGATGATTAGATGGATGATTAGATGGATGGATGGACTGATTGATCGATGGATGGATGGATGATTGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGATGGATGAATGATTAGATGGATGGATGGATGGATGGATAGCTGGATGGATGGACCGATTGATCGATGGATGGATGATTAAATGGATGAATGGATGGATGACTGGATGGATGGATGGATGGATGGATGGATGGATGGATGATTGGATGGATGATTAGATGGATGGATGGATGGATGGATGGATGGATAGATGGATAGATCAATGGATGGATCGATGGATGAATGATTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGACGGATAGACAGGTGGATGAGCAAATTAAATGAGAGAGTAAATAGATGGATGAATAAACAAGCAGGTGAAGGAGCAAATAAATAAGCAAATTGTGACCCAGAAAAGGTACCAGACAGATGGAAACAGCTACTTAATTTCAAATGTCAATGGTCACTGAAGAAAAGAAAAAAAAGCAACTGGTACGTGGGGGAAAATGATATCTCTCTATGCAGAGGTTAGAAATACAACCAGATCGTGCTGTTCCCTCTGTTGTAAATGGAGAGATTTTAAGAGGGGGCTCCTTCCTGGTCCCAGCAGACCAGAGAGGCTCTCACAGTTGTATCTAAAGCAAACTGTGAGAGTAACGTGATGTGAAATCCAAAGGAAATCACCTCAGGGTATTAGTTTGCTCCTACTTTGCAAAGACCATCAGTTGAGTTTCTGTGGACTTTAGTTTCCGCATCTGTTAAAATGGGGCTGAAAACACTTGCAGAACCTATCTTAGGTCGTGAGGGCCACGTAAGCAATGAATGGGAAAGCCAGAGGTATATACCACATGGTGAAGTTGGATTATGAGTGGCTGGCCTGGTTTGAATCCTGGAGTCTCTAAGCCTCAGTTACCTTATGATCGGGGTGATGAT
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Task1_train_23221
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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.
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Pathogenic; Isolated focal non-epidermolytic palmoplantar keratoderma
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TTCACTATATTTACAATTGTGTGTGCTTTTGAGGTTACTTGTCTCTATCATAGCCATATGGCAGGAATTCTAGAGCGATGTGGATCTGCATGTTTCTCCCTAACTCTATGTCCAGTAACATAATGTTGGTAGCTGGAAATTGGCCCTGAGAGGAGAACAGTAGTCCGCCCTTCTCTTCGATTTCACTTTCTGCAGTTTTGGTTGCCTGTGGTCAACTATGACCCAGAAATATTACACACAATACAATATTCTGAGAGAGACAACATTCACATACTTTTATTACAGTATATTGTTATCATTGTTCTGTTAGTTATTGCCATTAATCTCACTATGCCTAATTGATAAAATAAATTTTATAAATTCCACATAGCCAGTTGAGTCTTAGAATAATTTGTTGATTCCCCCCCCCACCCCCCAGCACTTTGGGAGGCCGAGGCGGACGGATCACCTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGGGGCGGGAGAATTGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACTATTGCACTCCAGCCTGGGCAACAGAGCGAGACTCAGTCACAAACAAAAAAAAAAAAAAAAAGCAAAAATTATTCTAAGACTCAACTGGCTAAGTGGAATTTACAATAAACTGTATTGTATAGTATATTTTCATTATTTGCATAGATGTATATGTATAGGAAAAAACATAGCATATTATATAATGTTTGGTACTATCTGCAGTTTCAGGCATTCATGGGGGGTCTTAGAACATCTCCCCCAAGAATAAGGGGGGACTACTGTATTTACATCATGAAAATTGGTAAATGCCACAAATCAGAGATTGATTGACTCATTGTTTTGTTGATATCTAGATCTAAATGATTTAAGACAGTGATGGAGAAACTATTAATCCAGTTTAAATTTTAAAATGTGTTCTGTCTGCAGCCTTTACATTATGTATAGCACAAAAATATCAACAGAATATTATTCTGGTATTTGCAAACTAGTATCCAATTCAGCAAAGAAGTTGCTCACATCATTGATAAACAAGTAAAGTTCAACATAAATCTTAATTGTTTCACTTCAATCACTGCTTATAAAGAAAACTCTCAACCAACATTCATGTCTGATAGCACTCTTTTGTCAATTGCAACCAAAAGTTGACAACAAAAACTAGAATTCAATAAAAAGCAACAAATAGGCCTGGCGCGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACAATCCTGGCCAACATGCTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAACATGGTGGTGCGTGCCTGTGATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTTTACTCTGGCCTGGGCAGCAGAGCAAGACTTGGTCTCCAAAAAAAAAAAAAAAAAGCAACAAATTATTCTGAGACTCAACTGGCTATGTGGAATTTACAATAAACTGCATGGTATATTTTCATTATTTGCAAATTGTGTGATACACATCGTTTATATAGTAAAATGTATGATAAGTCTTTTGTGTATATATATGGAATATACATATTCCACCTACACACACACACATACACACACACACACACAGAACAGTCGTTAAATGTTTACCAGCACGCCACTGCCCAGGGGTGAGAACATTCCTCCACAAACTGTACCCCTCCCCAGCACCCCACAAGCCTGGGGGATTTAAGGTCTTGACACTTAAAGCCTGGCCGAAAGCAAAGGGAGTGCATGGCATTTGGGAGAAAGAGCAGTGACCTGCCCCTTGGTAAACCCCTCTTCCTCTCCAGATCTCAGTTTCCCCATCTGAAAAATGGCCATCCTCCGAGGGCCCTCCCGCCGGCGCAGCTCTCAACGCACCTTCTGGATCATGACGCTGTACATGCCCATGGACTGGAAACCCCGCGTATAGTAGAGCATGTTCGCCCAGCCCAGGGCCATGGCCAGCACGAGGCAGGCGAGGTACTCTTTGTAGGCAAACAAGTACAAGAAGACAGACAGTATCACAAGCACAGCTTGGATAAAACTGTTCAGGAGACACAGGAGACACGGGCCTTACTTACTTCTCAGCATCAGGGCAAAGATATGCAAATCCCCCAAACCTCCCTTAAACCCCCTGAACAGTCACCCCGGTGACGGATGCTGAAGAGACCAGAATCACGCTGCCTCAGATCCATTTGGCTACCATAGAATTCAGCCTGTAGAGACATCACCAGATGCCACTCACAGCCTGTGGTAAGCTGATTGCAGCTGGTGGGGACTTTAAAAAAAGAAAAAACACACATCCACAGGGCCGCAGAAGATTCTAGGGTACTGCCCGGGAGGCCATATATTTTTTAAATTACCCACACGGGCCTGGTGTAGTGGCTTTCGCCTGTAATCCCAACACTTTGGGGGGCTGAGATAGGAGAAACGCTTCAGGCCAGGAGTTCAGGACCAGCCTGAGTGACATAGTGAGACCTTGTCTCTACAAAAAAAAAAAAAAAAAGAAAAGAAAAATAATCTAAATCACCCACATAATTTCTGACTCCTGCATCGATTTGAGAACTACTGGAGTAGACCAAAGATGTGGTAAATGATTGTATTTTTAACCAAAATGACAAAAACTGCCAATATCTATACTTAAAAGCCAATCATAGCAAAAGTCCCCCAAACCCTACTTTTTAAATCGTGGTGTTTTTTGGGGGGGTCAGGGGGGCAGAGACAGGGTCTTGCTCTGTCACCTAGGCTGGAGTACAGTGGCATGAACTCTGCTCACTGCAACCTCCGCCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCACCCGCCACCACACCAGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTTCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAACGCGCCCAGCATTAAATCTTTTTAAAGTATGATGTATGCTAAGTGAAATAAGATAGGTGACTCCACTATATGACTGTACCTAAAATAGTCCAATTCACAGAGAAAGATGGAAGAATGGTGGTTACAGGGGGCCGGGAAAGGAGAGGAATAGGGGCTGTTGTTTAAGGGGTATGGAGTTTGAGTTTTACAGGACGAAAACAGTTCTAAAGACTGATTGCCCAACAACATGAATGTACTTCACAGTATTGATTTCTACGCTTAAAAAATGGGTGCAATGCTAACTTTTATGCTATGTGTATTTTACCACAATTAATTTTTTTTTTTTTTTTGAGATGTAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCATGATCTCGGCTCACTGCAGCCTCCGCCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGTGCATGCCACCACACACAAGGCTAATTTTTGTATTTTTTGTAGAGAGAGGGGATTTCACCAGACTGGTCTCAAACTCCTGACCTCAGATGATAGGCCCACCTTGGCCCACCAAAGTGCTGGGATTACAAGCATGACCCATCGTGCCCGGCCCACAGTTAAAATGTTTTTAAGTATAATATATCGCAAACATACAAAATCAATATCTACTCCTACACAGTCACATGCAGACATCTGCATAACATCCATTATGCAGACATCTGGATAAAAACACTGTCTTATAACATCAGACAGTTTCCAAAATTATAAAATAGCTAACCAAAGTCACAACACAGGCACGATTGTAAGAAAAACCATCTAATTCATCAACTGCATTTTAGACTGAAATGAAGAATGTCTCCCTCCACACTAACAAAACAAATAAGAAGCAGAAGAGGCCGGCGCAGGAGCTCACACCTGGAATCCCAGCACTCTGCAAGGCTGAGGTG
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TTCACTATATTTACAATTGTGTGTGCTTTTGAGGTTACTTGTCTCTATCATAGCCATATGGCAGGAATTCTAGAGCGATGTGGATCTGCATGTTTCTCCCTAACTCTATGTCCAGTAACATAATGTTGGTAGCTGGAAATTGGCCCTGAGAGGAGAACAGTAGTCCGCCCTTCTCTTCGATTTCACTTTCTGCAGTTTTGGTTGCCTGTGGTCAACTATGACCCAGAAATATTACACACAATACAATATTCTGAGAGAGACAACATTCACATACTTTTATTACAGTATATTGTTATCATTGTTCTGTTAGTTATTGCCATTAATCTCACTATGCCTAATTGATAAAATAAATTTTATAAATTCCACATAGCCAGTTGAGTCTTAGAATAATTTGTTGATTCCCCCCCCCACCCCCCAGCACTTTGGGAGGCCGAGGCGGACGGATCACCTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGGGGCGGGAGAATTGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACTATTGCACTCCAGCCTGGGCAACAGAGCGAGACTCAGTCACAAACAAAAAAAAAAAAAAAAAGCAAAAATTATTCTAAGACTCAACTGGCTAAGTGGAATTTACAATAAACTGTATTGTATAGTATATTTTCATTATTTGCATAGATGTATATGTATAGGAAAAAACATAGCATATTATATAATGTTTGGTACTATCTGCAGTTTCAGGCATTCATGGGGGGTCTTAGAACATCTCCCCCAAGAATAAGGGGGGACTACTGTATTTACATCATGAAAATTGGTAAATGCCACAAATCAGAGATTGATTGACTCATTGTTTTGTTGATATCTAGATCTAAATGATTTAAGACAGTGATGGAGAAACTATTAATCCAGTTTAAATTTTAAAATGTGTTCTGTCTGCAGCCTTTACATTATGTATAGCACAAAAATATCAACAGAATATTATTCTGGTATTTGCAAACTAGTATCCAATTCAGCAAAGAAGTTGCTCACATCATTGATAAACAAGTAAAGTTCAACATAAATCTTAATTGTTTCACTTCAATCACTGCTTATAAAGAAAACTCTCAACCAACATTCATGTCTGATAGCACTCTTTTGTCAATTGCAACCAAAAGTTGACAACAAAAACTAGAATTCAATAAAAAGCAACAAATAGGCCTGGCGCGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACAATCCTGGCCAACATGCTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAACATGGTGGTGCGTGCCTGTGATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTTTACTCTGGCCTGGGCAGCAGAGCAAGACTTGGTCTCCAAAAAAAAAAAAAAAAAGCAACAAATTATTCTGAGACTCAACTGGCTATGTGGAATTTACAATAAACTGCATGGTATATTTTCATTATTTGCAAATTGTGTGATACACATCGTTTATATAGTAAAATGTATGATAAGTCTTTTGTGTATATATATGGAATATACATATTCCACCTACACACACACACATACACACACACACACACAGAACAGTCGTTAAATGTTTACCAGCACGCCACTGCCCAGGGGTGAGAACATTCCTCCACAAACTGTACCCCTCCCCAGCACCCCACAAGCCTGGGGGATTTAAGGTCTTGACACTTAAAGCCTGGCCGAAAGCAAAGGGAGTGCATGGCATTTGGGAGAAAGAGCAGTGACCTGCCCCTTGGTAAACCCCTCTTCCTCTCCAGATCTCAGTTTCCCCATCTGAAAAATGGCCATCCTCCGAGGGCCCTCCCGCCGGCGCAGCTCTCAACGCACCTTCGGGATCATGACGCTGTACATGCCCATGGACTGGAAACCCCGCGTATAGTAGAGCATGTTCGCCCAGCCCAGGGCCATGGCCAGCACGAGGCAGGCGAGGTACTCTTTGTAGGCAAACAAGTACAAGAAGACAGACAGTATCACAAGCACAGCTTGGATAAAACTGTTCAGGAGACACAGGAGACACGGGCCTTACTTACTTCTCAGCATCAGGGCAAAGATATGCAAATCCCCCAAACCTCCCTTAAACCCCCTGAACAGTCACCCCGGTGACGGATGCTGAAGAGACCAGAATCACGCTGCCTCAGATCCATTTGGCTACCATAGAATTCAGCCTGTAGAGACATCACCAGATGCCACTCACAGCCTGTGGTAAGCTGATTGCAGCTGGTGGGGACTTTAAAAAAAGAAAAAACACACATCCACAGGGCCGCAGAAGATTCTAGGGTACTGCCCGGGAGGCCATATATTTTTTAAATTACCCACACGGGCCTGGTGTAGTGGCTTTCGCCTGTAATCCCAACACTTTGGGGGGCTGAGATAGGAGAAACGCTTCAGGCCAGGAGTTCAGGACCAGCCTGAGTGACATAGTGAGACCTTGTCTCTACAAAAAAAAAAAAAAAAAGAAAAGAAAAATAATCTAAATCACCCACATAATTTCTGACTCCTGCATCGATTTGAGAACTACTGGAGTAGACCAAAGATGTGGTAAATGATTGTATTTTTAACCAAAATGACAAAAACTGCCAATATCTATACTTAAAAGCCAATCATAGCAAAAGTCCCCCAAACCCTACTTTTTAAATCGTGGTGTTTTTTGGGGGGGTCAGGGGGGCAGAGACAGGGTCTTGCTCTGTCACCTAGGCTGGAGTACAGTGGCATGAACTCTGCTCACTGCAACCTCCGCCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCACCCGCCACCACACCAGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTTCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAACGCGCCCAGCATTAAATCTTTTTAAAGTATGATGTATGCTAAGTGAAATAAGATAGGTGACTCCACTATATGACTGTACCTAAAATAGTCCAATTCACAGAGAAAGATGGAAGAATGGTGGTTACAGGGGGCCGGGAAAGGAGAGGAATAGGGGCTGTTGTTTAAGGGGTATGGAGTTTGAGTTTTACAGGACGAAAACAGTTCTAAAGACTGATTGCCCAACAACATGAATGTACTTCACAGTATTGATTTCTACGCTTAAAAAATGGGTGCAATGCTAACTTTTATGCTATGTGTATTTTACCACAATTAATTTTTTTTTTTTTTTTGAGATGTAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCATGATCTCGGCTCACTGCAGCCTCCGCCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGTGCATGCCACCACACACAAGGCTAATTTTTGTATTTTTTGTAGAGAGAGGGGATTTCACCAGACTGGTCTCAAACTCCTGACCTCAGATGATAGGCCCACCTTGGCCCACCAAAGTGCTGGGATTACAAGCATGACCCATCGTGCCCGGCCCACAGTTAAAATGTTTTTAAGTATAATATATCGCAAACATACAAAATCAATATCTACTCCTACACAGTCACATGCAGACATCTGCATAACATCCATTATGCAGACATCTGGATAAAAACACTGTCTTATAACATCAGACAGTTTCCAAAATTATAAAATAGCTAACCAAAGTCACAACACAGGCACGATTGTAAGAAAAACCATCTAATTCATCAACTGCATTTTAGACTGAAATGAAGAATGTCTCCCTCCACACTAACAAAACAAATAAGAAGCAGAAGAGGCCGGCGCAGGAGCTCACACCTGGAATCCCAGCACTCTGCAAGGCTGAGGTG
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Task1_train_23222
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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?
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Pathogenic; not provided
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TGTGCTTTTGAGGTTACTTGTCTCTATCATAGCCATATGGCAGGAATTCTAGAGCGATGTGGATCTGCATGTTTCTCCCTAACTCTATGTCCAGTAACATAATGTTGGTAGCTGGAAATTGGCCCTGAGAGGAGAACAGTAGTCCGCCCTTCTCTTCGATTTCACTTTCTGCAGTTTTGGTTGCCTGTGGTCAACTATGACCCAGAAATATTACACACAATACAATATTCTGAGAGAGACAACATTCACATACTTTTATTACAGTATATTGTTATCATTGTTCTGTTAGTTATTGCCATTAATCTCACTATGCCTAATTGATAAAATAAATTTTATAAATTCCACATAGCCAGTTGAGTCTTAGAATAATTTGTTGATTCCCCCCCCCACCCCCCAGCACTTTGGGAGGCCGAGGCGGACGGATCACCTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGGGGCGGGAGAATTGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACTATTGCACTCCAGCCTGGGCAACAGAGCGAGACTCAGTCACAAACAAAAAAAAAAAAAAAAAGCAAAAATTATTCTAAGACTCAACTGGCTAAGTGGAATTTACAATAAACTGTATTGTATAGTATATTTTCATTATTTGCATAGATGTATATGTATAGGAAAAAACATAGCATATTATATAATGTTTGGTACTATCTGCAGTTTCAGGCATTCATGGGGGGTCTTAGAACATCTCCCCCAAGAATAAGGGGGGACTACTGTATTTACATCATGAAAATTGGTAAATGCCACAAATCAGAGATTGATTGACTCATTGTTTTGTTGATATCTAGATCTAAATGATTTAAGACAGTGATGGAGAAACTATTAATCCAGTTTAAATTTTAAAATGTGTTCTGTCTGCAGCCTTTACATTATGTATAGCACAAAAATATCAACAGAATATTATTCTGGTATTTGCAAACTAGTATCCAATTCAGCAAAGAAGTTGCTCACATCATTGATAAACAAGTAAAGTTCAACATAAATCTTAATTGTTTCACTTCAATCACTGCTTATAAAGAAAACTCTCAACCAACATTCATGTCTGATAGCACTCTTTTGTCAATTGCAACCAAAAGTTGACAACAAAAACTAGAATTCAATAAAAAGCAACAAATAGGCCTGGCGCGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACAATCCTGGCCAACATGCTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAACATGGTGGTGCGTGCCTGTGATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTTTACTCTGGCCTGGGCAGCAGAGCAAGACTTGGTCTCCAAAAAAAAAAAAAAAAAGCAACAAATTATTCTGAGACTCAACTGGCTATGTGGAATTTACAATAAACTGCATGGTATATTTTCATTATTTGCAAATTGTGTGATACACATCGTTTATATAGTAAAATGTATGATAAGTCTTTTGTGTATATATATGGAATATACATATTCCACCTACACACACACACATACACACACACACACACAGAACAGTCGTTAAATGTTTACCAGCACGCCACTGCCCAGGGGTGAGAACATTCCTCCACAAACTGTACCCCTCCCCAGCACCCCACAAGCCTGGGGGATTTAAGGTCTTGACACTTAAAGCCTGGCCGAAAGCAAAGGGAGTGCATGGCATTTGGGAGAAAGAGCAGTGACCTGCCCCTTGGTAAACCCCTCTTCCTCTCCAGATCTCAGTTTCCCCATCTGAAAAATGGCCATCCTCCGAGGGCCCTCCCGCCGGCGCAGCTCTCAACGCACCTTCTGGATCATGACGCTGTACATGCCCATGGACTGGAAACCCCGCGTATAGTAGAGCATGTTCGCCCAGCCCAGGGCCATGGCCAGCACGAGGCAGGCGAGGTACTCTTTGTAGGCAAACAAGTACAAGAAGACAGACAGTATCACAAGCACAGCTTGGATAAAACTGTTCAGGAGACACAGGAGACACGGGCCTTACTTACTTCTCAGCATCAGGGCAAAGATATGCAAATCCCCCAAACCTCCCTTAAACCCCCTGAACAGTCACCCCGGTGACGGATGCTGAAGAGACCAGAATCACGCTGCCTCAGATCCATTTGGCTACCATAGAATTCAGCCTGTAGAGACATCACCAGATGCCACTCACAGCCTGTGGTAAGCTGATTGCAGCTGGTGGGGACTTTAAAAAAAGAAAAAACACACATCCACAGGGCCGCAGAAGATTCTAGGGTACTGCCCGGGAGGCCATATATTTTTTAAATTACCCACACGGGCCTGGTGTAGTGGCTTTCGCCTGTAATCCCAACACTTTGGGGGGCTGAGATAGGAGAAACGCTTCAGGCCAGGAGTTCAGGACCAGCCTGAGTGACATAGTGAGACCTTGTCTCTACAAAAAAAAAAAAAAAAAGAAAAGAAAAATAATCTAAATCACCCACATAATTTCTGACTCCTGCATCGATTTGAGAACTACTGGAGTAGACCAAAGATGTGGTAAATGATTGTATTTTTAACCAAAATGACAAAAACTGCCAATATCTATACTTAAAAGCCAATCATAGCAAAAGTCCCCCAAACCCTACTTTTTAAATCGTGGTGTTTTTTGGGGGGGTCAGGGGGGCAGAGACAGGGTCTTGCTCTGTCACCTAGGCTGGAGTACAGTGGCATGAACTCTGCTCACTGCAACCTCCGCCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCACCCGCCACCACACCAGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTTCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAACGCGCCCAGCATTAAATCTTTTTAAAGTATGATGTATGCTAAGTGAAATAAGATAGGTGACTCCACTATATGACTGTACCTAAAATAGTCCAATTCACAGAGAAAGATGGAAGAATGGTGGTTACAGGGGGCCGGGAAAGGAGAGGAATAGGGGCTGTTGTTTAAGGGGTATGGAGTTTGAGTTTTACAGGACGAAAACAGTTCTAAAGACTGATTGCCCAACAACATGAATGTACTTCACAGTATTGATTTCTACGCTTAAAAAATGGGTGCAATGCTAACTTTTATGCTATGTGTATTTTACCACAATTAATTTTTTTTTTTTTTTTGAGATGTAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCATGATCTCGGCTCACTGCAGCCTCCGCCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGTGCATGCCACCACACACAAGGCTAATTTTTGTATTTTTTGTAGAGAGAGGGGATTTCACCAGACTGGTCTCAAACTCCTGACCTCAGATGATAGGCCCACCTTGGCCCACCAAAGTGCTGGGATTACAAGCATGACCCATCGTGCCCGGCCCACAGTTAAAATGTTTTTAAGTATAATATATCGCAAACATACAAAATCAATATCTACTCCTACACAGTCACATGCAGACATCTGCATAACATCCATTATGCAGACATCTGGATAAAAACACTGTCTTATAACATCAGACAGTTTCCAAAATTATAAAATAGCTAACCAAAGTCACAACACAGGCACGATTGTAAGAAAAACCATCTAATTCATCAACTGCATTTTAGACTGAAATGAAGAATGTCTCCCTCCACACTAACAAAACAAATAAGAAGCAGAAGAGGCCGGCGCAGGAGCTCACACCTGGAATCCCAGCACTCTGCAAGGCTGAGGTGGGCAGATCACTTGAGGTCAGG
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TGTGCTTTTGAGGTTACTTGTCTCTATCATAGCCATATGGCAGGAATTCTAGAGCGATGTGGATCTGCATGTTTCTCCCTAACTCTATGTCCAGTAACATAATGTTGGTAGCTGGAAATTGGCCCTGAGAGGAGAACAGTAGTCCGCCCTTCTCTTCGATTTCACTTTCTGCAGTTTTGGTTGCCTGTGGTCAACTATGACCCAGAAATATTACACACAATACAATATTCTGAGAGAGACAACATTCACATACTTTTATTACAGTATATTGTTATCATTGTTCTGTTAGTTATTGCCATTAATCTCACTATGCCTAATTGATAAAATAAATTTTATAAATTCCACATAGCCAGTTGAGTCTTAGAATAATTTGTTGATTCCCCCCCCCACCCCCCAGCACTTTGGGAGGCCGAGGCGGACGGATCACCTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGGGGCGGGAGAATTGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACTATTGCACTCCAGCCTGGGCAACAGAGCGAGACTCAGTCACAAACAAAAAAAAAAAAAAAAAGCAAAAATTATTCTAAGACTCAACTGGCTAAGTGGAATTTACAATAAACTGTATTGTATAGTATATTTTCATTATTTGCATAGATGTATATGTATAGGAAAAAACATAGCATATTATATAATGTTTGGTACTATCTGCAGTTTCAGGCATTCATGGGGGGTCTTAGAACATCTCCCCCAAGAATAAGGGGGGACTACTGTATTTACATCATGAAAATTGGTAAATGCCACAAATCAGAGATTGATTGACTCATTGTTTTGTTGATATCTAGATCTAAATGATTTAAGACAGTGATGGAGAAACTATTAATCCAGTTTAAATTTTAAAATGTGTTCTGTCTGCAGCCTTTACATTATGTATAGCACAAAAATATCAACAGAATATTATTCTGGTATTTGCAAACTAGTATCCAATTCAGCAAAGAAGTTGCTCACATCATTGATAAACAAGTAAAGTTCAACATAAATCTTAATTGTTTCACTTCAATCACTGCTTATAAAGAAAACTCTCAACCAACATTCATGTCTGATAGCACTCTTTTGTCAATTGCAACCAAAAGTTGACAACAAAAACTAGAATTCAATAAAAAGCAACAAATAGGCCTGGCGCGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACAATCCTGGCCAACATGCTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAACATGGTGGTGCGTGCCTGTGATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTTTACTCTGGCCTGGGCAGCAGAGCAAGACTTGGTCTCCAAAAAAAAAAAAAAAAAGCAACAAATTATTCTGAGACTCAACTGGCTATGTGGAATTTACAATAAACTGCATGGTATATTTTCATTATTTGCAAATTGTGTGATACACATCGTTTATATAGTAAAATGTATGATAAGTCTTTTGTGTATATATATGGAATATACATATTCCACCTACACACACACACATACACACACACACACACAGAACAGTCGTTAAATGTTTACCAGCACGCCACTGCCCAGGGGTGAGAACATTCCTCCACAAACTGTACCCCTCCCCAGCACCCCACAAGCCTGGGGGATTTAAGGTCTTGACACTTAAAGCCTGGCCGAAAGCAAAGGGAGTGCATGGCATTTGGGAGAAAGAGCAGTGACCTGCCCCTTGGTAAACCCCTCTTCCTCTCCAGATCTCAGTTTCCCCATCTGAAAAATGGCCATCCTCCGAGGGCCCTCCCGCCGGCGCAGCTCTCAACGCACCTTCTGGATCATGACGCTGTACATGACCATGGACTGGAAACCCCGCGTATAGTAGAGCATGTTCGCCCAGCCCAGGGCCATGGCCAGCACGAGGCAGGCGAGGTACTCTTTGTAGGCAAACAAGTACAAGAAGACAGACAGTATCACAAGCACAGCTTGGATAAAACTGTTCAGGAGACACAGGAGACACGGGCCTTACTTACTTCTCAGCATCAGGGCAAAGATATGCAAATCCCCCAAACCTCCCTTAAACCCCCTGAACAGTCACCCCGGTGACGGATGCTGAAGAGACCAGAATCACGCTGCCTCAGATCCATTTGGCTACCATAGAATTCAGCCTGTAGAGACATCACCAGATGCCACTCACAGCCTGTGGTAAGCTGATTGCAGCTGGTGGGGACTTTAAAAAAAGAAAAAACACACATCCACAGGGCCGCAGAAGATTCTAGGGTACTGCCCGGGAGGCCATATATTTTTTAAATTACCCACACGGGCCTGGTGTAGTGGCTTTCGCCTGTAATCCCAACACTTTGGGGGGCTGAGATAGGAGAAACGCTTCAGGCCAGGAGTTCAGGACCAGCCTGAGTGACATAGTGAGACCTTGTCTCTACAAAAAAAAAAAAAAAAAGAAAAGAAAAATAATCTAAATCACCCACATAATTTCTGACTCCTGCATCGATTTGAGAACTACTGGAGTAGACCAAAGATGTGGTAAATGATTGTATTTTTAACCAAAATGACAAAAACTGCCAATATCTATACTTAAAAGCCAATCATAGCAAAAGTCCCCCAAACCCTACTTTTTAAATCGTGGTGTTTTTTGGGGGGGTCAGGGGGGCAGAGACAGGGTCTTGCTCTGTCACCTAGGCTGGAGTACAGTGGCATGAACTCTGCTCACTGCAACCTCCGCCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCACCCGCCACCACACCAGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTTCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAACGCGCCCAGCATTAAATCTTTTTAAAGTATGATGTATGCTAAGTGAAATAAGATAGGTGACTCCACTATATGACTGTACCTAAAATAGTCCAATTCACAGAGAAAGATGGAAGAATGGTGGTTACAGGGGGCCGGGAAAGGAGAGGAATAGGGGCTGTTGTTTAAGGGGTATGGAGTTTGAGTTTTACAGGACGAAAACAGTTCTAAAGACTGATTGCCCAACAACATGAATGTACTTCACAGTATTGATTTCTACGCTTAAAAAATGGGTGCAATGCTAACTTTTATGCTATGTGTATTTTACCACAATTAATTTTTTTTTTTTTTTTGAGATGTAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCATGATCTCGGCTCACTGCAGCCTCCGCCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGTGCATGCCACCACACACAAGGCTAATTTTTGTATTTTTTGTAGAGAGAGGGGATTTCACCAGACTGGTCTCAAACTCCTGACCTCAGATGATAGGCCCACCTTGGCCCACCAAAGTGCTGGGATTACAAGCATGACCCATCGTGCCCGGCCCACAGTTAAAATGTTTTTAAGTATAATATATCGCAAACATACAAAATCAATATCTACTCCTACACAGTCACATGCAGACATCTGCATAACATCCATTATGCAGACATCTGGATAAAAACACTGTCTTATAACATCAGACAGTTTCCAAAATTATAAAATAGCTAACCAAAGTCACAACACAGGCACGATTGTAAGAAAAACCATCTAATTCATCAACTGCATTTTAGACTGAAATGAAGAATGTCTCCCTCCACACTAACAAAACAAATAAGAAGCAGAAGAGGCCGGCGCAGGAGCTCACACCTGGAATCCCAGCACTCTGCAAGGCTGAGGTGGGCAGATCACTTGAGGTCAGG
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Task1_train_23223
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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?
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Pathogenic; Olmsted syndrome 1
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GTGCTTTTGAGGTTACTTGTCTCTATCATAGCCATATGGCAGGAATTCTAGAGCGATGTGGATCTGCATGTTTCTCCCTAACTCTATGTCCAGTAACATAATGTTGGTAGCTGGAAATTGGCCCTGAGAGGAGAACAGTAGTCCGCCCTTCTCTTCGATTTCACTTTCTGCAGTTTTGGTTGCCTGTGGTCAACTATGACCCAGAAATATTACACACAATACAATATTCTGAGAGAGACAACATTCACATACTTTTATTACAGTATATTGTTATCATTGTTCTGTTAGTTATTGCCATTAATCTCACTATGCCTAATTGATAAAATAAATTTTATAAATTCCACATAGCCAGTTGAGTCTTAGAATAATTTGTTGATTCCCCCCCCCACCCCCCAGCACTTTGGGAGGCCGAGGCGGACGGATCACCTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGGGGCGGGAGAATTGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACTATTGCACTCCAGCCTGGGCAACAGAGCGAGACTCAGTCACAAACAAAAAAAAAAAAAAAAAGCAAAAATTATTCTAAGACTCAACTGGCTAAGTGGAATTTACAATAAACTGTATTGTATAGTATATTTTCATTATTTGCATAGATGTATATGTATAGGAAAAAACATAGCATATTATATAATGTTTGGTACTATCTGCAGTTTCAGGCATTCATGGGGGGTCTTAGAACATCTCCCCCAAGAATAAGGGGGGACTACTGTATTTACATCATGAAAATTGGTAAATGCCACAAATCAGAGATTGATTGACTCATTGTTTTGTTGATATCTAGATCTAAATGATTTAAGACAGTGATGGAGAAACTATTAATCCAGTTTAAATTTTAAAATGTGTTCTGTCTGCAGCCTTTACATTATGTATAGCACAAAAATATCAACAGAATATTATTCTGGTATTTGCAAACTAGTATCCAATTCAGCAAAGAAGTTGCTCACATCATTGATAAACAAGTAAAGTTCAACATAAATCTTAATTGTTTCACTTCAATCACTGCTTATAAAGAAAACTCTCAACCAACATTCATGTCTGATAGCACTCTTTTGTCAATTGCAACCAAAAGTTGACAACAAAAACTAGAATTCAATAAAAAGCAACAAATAGGCCTGGCGCGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACAATCCTGGCCAACATGCTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAACATGGTGGTGCGTGCCTGTGATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTTTACTCTGGCCTGGGCAGCAGAGCAAGACTTGGTCTCCAAAAAAAAAAAAAAAAAGCAACAAATTATTCTGAGACTCAACTGGCTATGTGGAATTTACAATAAACTGCATGGTATATTTTCATTATTTGCAAATTGTGTGATACACATCGTTTATATAGTAAAATGTATGATAAGTCTTTTGTGTATATATATGGAATATACATATTCCACCTACACACACACACATACACACACACACACACAGAACAGTCGTTAAATGTTTACCAGCACGCCACTGCCCAGGGGTGAGAACATTCCTCCACAAACTGTACCCCTCCCCAGCACCCCACAAGCCTGGGGGATTTAAGGTCTTGACACTTAAAGCCTGGCCGAAAGCAAAGGGAGTGCATGGCATTTGGGAGAAAGAGCAGTGACCTGCCCCTTGGTAAACCCCTCTTCCTCTCCAGATCTCAGTTTCCCCATCTGAAAAATGGCCATCCTCCGAGGGCCCTCCCGCCGGCGCAGCTCTCAACGCACCTTCTGGATCATGACGCTGTACATGCCCATGGACTGGAAACCCCGCGTATAGTAGAGCATGTTCGCCCAGCCCAGGGCCATGGCCAGCACGAGGCAGGCGAGGTACTCTTTGTAGGCAAACAAGTACAAGAAGACAGACAGTATCACAAGCACAGCTTGGATAAAACTGTTCAGGAGACACAGGAGACACGGGCCTTACTTACTTCTCAGCATCAGGGCAAAGATATGCAAATCCCCCAAACCTCCCTTAAACCCCCTGAACAGTCACCCCGGTGACGGATGCTGAAGAGACCAGAATCACGCTGCCTCAGATCCATTTGGCTACCATAGAATTCAGCCTGTAGAGACATCACCAGATGCCACTCACAGCCTGTGGTAAGCTGATTGCAGCTGGTGGGGACTTTAAAAAAAGAAAAAACACACATCCACAGGGCCGCAGAAGATTCTAGGGTACTGCCCGGGAGGCCATATATTTTTTAAATTACCCACACGGGCCTGGTGTAGTGGCTTTCGCCTGTAATCCCAACACTTTGGGGGGCTGAGATAGGAGAAACGCTTCAGGCCAGGAGTTCAGGACCAGCCTGAGTGACATAGTGAGACCTTGTCTCTACAAAAAAAAAAAAAAAAAGAAAAGAAAAATAATCTAAATCACCCACATAATTTCTGACTCCTGCATCGATTTGAGAACTACTGGAGTAGACCAAAGATGTGGTAAATGATTGTATTTTTAACCAAAATGACAAAAACTGCCAATATCTATACTTAAAAGCCAATCATAGCAAAAGTCCCCCAAACCCTACTTTTTAAATCGTGGTGTTTTTTGGGGGGGTCAGGGGGGCAGAGACAGGGTCTTGCTCTGTCACCTAGGCTGGAGTACAGTGGCATGAACTCTGCTCACTGCAACCTCCGCCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCACCCGCCACCACACCAGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTTCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAACGCGCCCAGCATTAAATCTTTTTAAAGTATGATGTATGCTAAGTGAAATAAGATAGGTGACTCCACTATATGACTGTACCTAAAATAGTCCAATTCACAGAGAAAGATGGAAGAATGGTGGTTACAGGGGGCCGGGAAAGGAGAGGAATAGGGGCTGTTGTTTAAGGGGTATGGAGTTTGAGTTTTACAGGACGAAAACAGTTCTAAAGACTGATTGCCCAACAACATGAATGTACTTCACAGTATTGATTTCTACGCTTAAAAAATGGGTGCAATGCTAACTTTTATGCTATGTGTATTTTACCACAATTAATTTTTTTTTTTTTTTTGAGATGTAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCATGATCTCGGCTCACTGCAGCCTCCGCCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGTGCATGCCACCACACACAAGGCTAATTTTTGTATTTTTTGTAGAGAGAGGGGATTTCACCAGACTGGTCTCAAACTCCTGACCTCAGATGATAGGCCCACCTTGGCCCACCAAAGTGCTGGGATTACAAGCATGACCCATCGTGCCCGGCCCACAGTTAAAATGTTTTTAAGTATAATATATCGCAAACATACAAAATCAATATCTACTCCTACACAGTCACATGCAGACATCTGCATAACATCCATTATGCAGACATCTGGATAAAAACACTGTCTTATAACATCAGACAGTTTCCAAAATTATAAAATAGCTAACCAAAGTCACAACACAGGCACGATTGTAAGAAAAACCATCTAATTCATCAACTGCATTTTAGACTGAAATGAAGAATGTCTCCCTCCACACTAACAAAACAAATAAGAAGCAGAAGAGGCCGGCGCAGGAGCTCACACCTGGAATCCCAGCACTCTGCAAGGCTGAGGTGGGCAGATCACTTGAGGTCAGGA
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GTGCTTTTGAGGTTACTTGTCTCTATCATAGCCATATGGCAGGAATTCTAGAGCGATGTGGATCTGCATGTTTCTCCCTAACTCTATGTCCAGTAACATAATGTTGGTAGCTGGAAATTGGCCCTGAGAGGAGAACAGTAGTCCGCCCTTCTCTTCGATTTCACTTTCTGCAGTTTTGGTTGCCTGTGGTCAACTATGACCCAGAAATATTACACACAATACAATATTCTGAGAGAGACAACATTCACATACTTTTATTACAGTATATTGTTATCATTGTTCTGTTAGTTATTGCCATTAATCTCACTATGCCTAATTGATAAAATAAATTTTATAAATTCCACATAGCCAGTTGAGTCTTAGAATAATTTGTTGATTCCCCCCCCCACCCCCCAGCACTTTGGGAGGCCGAGGCGGACGGATCACCTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGGGGCGGGAGAATTGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACTATTGCACTCCAGCCTGGGCAACAGAGCGAGACTCAGTCACAAACAAAAAAAAAAAAAAAAAGCAAAAATTATTCTAAGACTCAACTGGCTAAGTGGAATTTACAATAAACTGTATTGTATAGTATATTTTCATTATTTGCATAGATGTATATGTATAGGAAAAAACATAGCATATTATATAATGTTTGGTACTATCTGCAGTTTCAGGCATTCATGGGGGGTCTTAGAACATCTCCCCCAAGAATAAGGGGGGACTACTGTATTTACATCATGAAAATTGGTAAATGCCACAAATCAGAGATTGATTGACTCATTGTTTTGTTGATATCTAGATCTAAATGATTTAAGACAGTGATGGAGAAACTATTAATCCAGTTTAAATTTTAAAATGTGTTCTGTCTGCAGCCTTTACATTATGTATAGCACAAAAATATCAACAGAATATTATTCTGGTATTTGCAAACTAGTATCCAATTCAGCAAAGAAGTTGCTCACATCATTGATAAACAAGTAAAGTTCAACATAAATCTTAATTGTTTCACTTCAATCACTGCTTATAAAGAAAACTCTCAACCAACATTCATGTCTGATAGCACTCTTTTGTCAATTGCAACCAAAAGTTGACAACAAAAACTAGAATTCAATAAAAAGCAACAAATAGGCCTGGCGCGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACAATCCTGGCCAACATGCTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAACATGGTGGTGCGTGCCTGTGATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTTTACTCTGGCCTGGGCAGCAGAGCAAGACTTGGTCTCCAAAAAAAAAAAAAAAAAGCAACAAATTATTCTGAGACTCAACTGGCTATGTGGAATTTACAATAAACTGCATGGTATATTTTCATTATTTGCAAATTGTGTGATACACATCGTTTATATAGTAAAATGTATGATAAGTCTTTTGTGTATATATATGGAATATACATATTCCACCTACACACACACACATACACACACACACACACAGAACAGTCGTTAAATGTTTACCAGCACGCCACTGCCCAGGGGTGAGAACATTCCTCCACAAACTGTACCCCTCCCCAGCACCCCACAAGCCTGGGGGATTTAAGGTCTTGACACTTAAAGCCTGGCCGAAAGCAAAGGGAGTGCATGGCATTTGGGAGAAAGAGCAGTGACCTGCCCCTTGGTAAACCCCTCTTCCTCTCCAGATCTCAGTTTCCCCATCTGAAAAATGGCCATCCTCCGAGGGCCCTCCCGCCGGCGCAGCTCTCAACGCACCTTCTGGATCATGACGCTGTACATGCACATGGACTGGAAACCCCGCGTATAGTAGAGCATGTTCGCCCAGCCCAGGGCCATGGCCAGCACGAGGCAGGCGAGGTACTCTTTGTAGGCAAACAAGTACAAGAAGACAGACAGTATCACAAGCACAGCTTGGATAAAACTGTTCAGGAGACACAGGAGACACGGGCCTTACTTACTTCTCAGCATCAGGGCAAAGATATGCAAATCCCCCAAACCTCCCTTAAACCCCCTGAACAGTCACCCCGGTGACGGATGCTGAAGAGACCAGAATCACGCTGCCTCAGATCCATTTGGCTACCATAGAATTCAGCCTGTAGAGACATCACCAGATGCCACTCACAGCCTGTGGTAAGCTGATTGCAGCTGGTGGGGACTTTAAAAAAAGAAAAAACACACATCCACAGGGCCGCAGAAGATTCTAGGGTACTGCCCGGGAGGCCATATATTTTTTAAATTACCCACACGGGCCTGGTGTAGTGGCTTTCGCCTGTAATCCCAACACTTTGGGGGGCTGAGATAGGAGAAACGCTTCAGGCCAGGAGTTCAGGACCAGCCTGAGTGACATAGTGAGACCTTGTCTCTACAAAAAAAAAAAAAAAAAGAAAAGAAAAATAATCTAAATCACCCACATAATTTCTGACTCCTGCATCGATTTGAGAACTACTGGAGTAGACCAAAGATGTGGTAAATGATTGTATTTTTAACCAAAATGACAAAAACTGCCAATATCTATACTTAAAAGCCAATCATAGCAAAAGTCCCCCAAACCCTACTTTTTAAATCGTGGTGTTTTTTGGGGGGGTCAGGGGGGCAGAGACAGGGTCTTGCTCTGTCACCTAGGCTGGAGTACAGTGGCATGAACTCTGCTCACTGCAACCTCCGCCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCACCCGCCACCACACCAGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTTCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAACGCGCCCAGCATTAAATCTTTTTAAAGTATGATGTATGCTAAGTGAAATAAGATAGGTGACTCCACTATATGACTGTACCTAAAATAGTCCAATTCACAGAGAAAGATGGAAGAATGGTGGTTACAGGGGGCCGGGAAAGGAGAGGAATAGGGGCTGTTGTTTAAGGGGTATGGAGTTTGAGTTTTACAGGACGAAAACAGTTCTAAAGACTGATTGCCCAACAACATGAATGTACTTCACAGTATTGATTTCTACGCTTAAAAAATGGGTGCAATGCTAACTTTTATGCTATGTGTATTTTACCACAATTAATTTTTTTTTTTTTTTTGAGATGTAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCATGATCTCGGCTCACTGCAGCCTCCGCCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGTGCATGCCACCACACACAAGGCTAATTTTTGTATTTTTTGTAGAGAGAGGGGATTTCACCAGACTGGTCTCAAACTCCTGACCTCAGATGATAGGCCCACCTTGGCCCACCAAAGTGCTGGGATTACAAGCATGACCCATCGTGCCCGGCCCACAGTTAAAATGTTTTTAAGTATAATATATCGCAAACATACAAAATCAATATCTACTCCTACACAGTCACATGCAGACATCTGCATAACATCCATTATGCAGACATCTGGATAAAAACACTGTCTTATAACATCAGACAGTTTCCAAAATTATAAAATAGCTAACCAAAGTCACAACACAGGCACGATTGTAAGAAAAACCATCTAATTCATCAACTGCATTTTAGACTGAAATGAAGAATGTCTCCCTCCACACTAACAAAACAAATAAGAAGCAGAAGAGGCCGGCGCAGGAGCTCACACCTGGAATCCCAGCACTCTGCAAGGCTGAGGTGGGCAGATCACTTGAGGTCAGGA
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Task1_train_23224
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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.
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Pathogenic; not provided
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GTGCTTTTGAGGTTACTTGTCTCTATCATAGCCATATGGCAGGAATTCTAGAGCGATGTGGATCTGCATGTTTCTCCCTAACTCTATGTCCAGTAACATAATGTTGGTAGCTGGAAATTGGCCCTGAGAGGAGAACAGTAGTCCGCCCTTCTCTTCGATTTCACTTTCTGCAGTTTTGGTTGCCTGTGGTCAACTATGACCCAGAAATATTACACACAATACAATATTCTGAGAGAGACAACATTCACATACTTTTATTACAGTATATTGTTATCATTGTTCTGTTAGTTATTGCCATTAATCTCACTATGCCTAATTGATAAAATAAATTTTATAAATTCCACATAGCCAGTTGAGTCTTAGAATAATTTGTTGATTCCCCCCCCCACCCCCCAGCACTTTGGGAGGCCGAGGCGGACGGATCACCTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGGGGCGGGAGAATTGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACTATTGCACTCCAGCCTGGGCAACAGAGCGAGACTCAGTCACAAACAAAAAAAAAAAAAAAAAGCAAAAATTATTCTAAGACTCAACTGGCTAAGTGGAATTTACAATAAACTGTATTGTATAGTATATTTTCATTATTTGCATAGATGTATATGTATAGGAAAAAACATAGCATATTATATAATGTTTGGTACTATCTGCAGTTTCAGGCATTCATGGGGGGTCTTAGAACATCTCCCCCAAGAATAAGGGGGGACTACTGTATTTACATCATGAAAATTGGTAAATGCCACAAATCAGAGATTGATTGACTCATTGTTTTGTTGATATCTAGATCTAAATGATTTAAGACAGTGATGGAGAAACTATTAATCCAGTTTAAATTTTAAAATGTGTTCTGTCTGCAGCCTTTACATTATGTATAGCACAAAAATATCAACAGAATATTATTCTGGTATTTGCAAACTAGTATCCAATTCAGCAAAGAAGTTGCTCACATCATTGATAAACAAGTAAAGTTCAACATAAATCTTAATTGTTTCACTTCAATCACTGCTTATAAAGAAAACTCTCAACCAACATTCATGTCTGATAGCACTCTTTTGTCAATTGCAACCAAAAGTTGACAACAAAAACTAGAATTCAATAAAAAGCAACAAATAGGCCTGGCGCGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACAATCCTGGCCAACATGCTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAACATGGTGGTGCGTGCCTGTGATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTTTACTCTGGCCTGGGCAGCAGAGCAAGACTTGGTCTCCAAAAAAAAAAAAAAAAAGCAACAAATTATTCTGAGACTCAACTGGCTATGTGGAATTTACAATAAACTGCATGGTATATTTTCATTATTTGCAAATTGTGTGATACACATCGTTTATATAGTAAAATGTATGATAAGTCTTTTGTGTATATATATGGAATATACATATTCCACCTACACACACACACATACACACACACACACACAGAACAGTCGTTAAATGTTTACCAGCACGCCACTGCCCAGGGGTGAGAACATTCCTCCACAAACTGTACCCCTCCCCAGCACCCCACAAGCCTGGGGGATTTAAGGTCTTGACACTTAAAGCCTGGCCGAAAGCAAAGGGAGTGCATGGCATTTGGGAGAAAGAGCAGTGACCTGCCCCTTGGTAAACCCCTCTTCCTCTCCAGATCTCAGTTTCCCCATCTGAAAAATGGCCATCCTCCGAGGGCCCTCCCGCCGGCGCAGCTCTCAACGCACCTTCTGGATCATGACGCTGTACATGCCCATGGACTGGAAACCCCGCGTATAGTAGAGCATGTTCGCCCAGCCCAGGGCCATGGCCAGCACGAGGCAGGCGAGGTACTCTTTGTAGGCAAACAAGTACAAGAAGACAGACAGTATCACAAGCACAGCTTGGATAAAACTGTTCAGGAGACACAGGAGACACGGGCCTTACTTACTTCTCAGCATCAGGGCAAAGATATGCAAATCCCCCAAACCTCCCTTAAACCCCCTGAACAGTCACCCCGGTGACGGATGCTGAAGAGACCAGAATCACGCTGCCTCAGATCCATTTGGCTACCATAGAATTCAGCCTGTAGAGACATCACCAGATGCCACTCACAGCCTGTGGTAAGCTGATTGCAGCTGGTGGGGACTTTAAAAAAAGAAAAAACACACATCCACAGGGCCGCAGAAGATTCTAGGGTACTGCCCGGGAGGCCATATATTTTTTAAATTACCCACACGGGCCTGGTGTAGTGGCTTTCGCCTGTAATCCCAACACTTTGGGGGGCTGAGATAGGAGAAACGCTTCAGGCCAGGAGTTCAGGACCAGCCTGAGTGACATAGTGAGACCTTGTCTCTACAAAAAAAAAAAAAAAAAGAAAAGAAAAATAATCTAAATCACCCACATAATTTCTGACTCCTGCATCGATTTGAGAACTACTGGAGTAGACCAAAGATGTGGTAAATGATTGTATTTTTAACCAAAATGACAAAAACTGCCAATATCTATACTTAAAAGCCAATCATAGCAAAAGTCCCCCAAACCCTACTTTTTAAATCGTGGTGTTTTTTGGGGGGGTCAGGGGGGCAGAGACAGGGTCTTGCTCTGTCACCTAGGCTGGAGTACAGTGGCATGAACTCTGCTCACTGCAACCTCCGCCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCACCCGCCACCACACCAGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTTCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAACGCGCCCAGCATTAAATCTTTTTAAAGTATGATGTATGCTAAGTGAAATAAGATAGGTGACTCCACTATATGACTGTACCTAAAATAGTCCAATTCACAGAGAAAGATGGAAGAATGGTGGTTACAGGGGGCCGGGAAAGGAGAGGAATAGGGGCTGTTGTTTAAGGGGTATGGAGTTTGAGTTTTACAGGACGAAAACAGTTCTAAAGACTGATTGCCCAACAACATGAATGTACTTCACAGTATTGATTTCTACGCTTAAAAAATGGGTGCAATGCTAACTTTTATGCTATGTGTATTTTACCACAATTAATTTTTTTTTTTTTTTTGAGATGTAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCATGATCTCGGCTCACTGCAGCCTCCGCCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGTGCATGCCACCACACACAAGGCTAATTTTTGTATTTTTTGTAGAGAGAGGGGATTTCACCAGACTGGTCTCAAACTCCTGACCTCAGATGATAGGCCCACCTTGGCCCACCAAAGTGCTGGGATTACAAGCATGACCCATCGTGCCCGGCCCACAGTTAAAATGTTTTTAAGTATAATATATCGCAAACATACAAAATCAATATCTACTCCTACACAGTCACATGCAGACATCTGCATAACATCCATTATGCAGACATCTGGATAAAAACACTGTCTTATAACATCAGACAGTTTCCAAAATTATAAAATAGCTAACCAAAGTCACAACACAGGCACGATTGTAAGAAAAACCATCTAATTCATCAACTGCATTTTAGACTGAAATGAAGAATGTCTCCCTCCACACTAACAAAACAAATAAGAAGCAGAAGAGGCCGGCGCAGGAGCTCACACCTGGAATCCCAGCACTCTGCAAGGCTGAGGTGGGCAGATCACTTGAGGTCAGGA
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GTGCTTTTGAGGTTACTTGTCTCTATCATAGCCATATGGCAGGAATTCTAGAGCGATGTGGATCTGCATGTTTCTCCCTAACTCTATGTCCAGTAACATAATGTTGGTAGCTGGAAATTGGCCCTGAGAGGAGAACAGTAGTCCGCCCTTCTCTTCGATTTCACTTTCTGCAGTTTTGGTTGCCTGTGGTCAACTATGACCCAGAAATATTACACACAATACAATATTCTGAGAGAGACAACATTCACATACTTTTATTACAGTATATTGTTATCATTGTTCTGTTAGTTATTGCCATTAATCTCACTATGCCTAATTGATAAAATAAATTTTATAAATTCCACATAGCCAGTTGAGTCTTAGAATAATTTGTTGATTCCCCCCCCCACCCCCCAGCACTTTGGGAGGCCGAGGCGGACGGATCACCTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGGGGCGGGAGAATTGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACTATTGCACTCCAGCCTGGGCAACAGAGCGAGACTCAGTCACAAACAAAAAAAAAAAAAAAAAGCAAAAATTATTCTAAGACTCAACTGGCTAAGTGGAATTTACAATAAACTGTATTGTATAGTATATTTTCATTATTTGCATAGATGTATATGTATAGGAAAAAACATAGCATATTATATAATGTTTGGTACTATCTGCAGTTTCAGGCATTCATGGGGGGTCTTAGAACATCTCCCCCAAGAATAAGGGGGGACTACTGTATTTACATCATGAAAATTGGTAAATGCCACAAATCAGAGATTGATTGACTCATTGTTTTGTTGATATCTAGATCTAAATGATTTAAGACAGTGATGGAGAAACTATTAATCCAGTTTAAATTTTAAAATGTGTTCTGTCTGCAGCCTTTACATTATGTATAGCACAAAAATATCAACAGAATATTATTCTGGTATTTGCAAACTAGTATCCAATTCAGCAAAGAAGTTGCTCACATCATTGATAAACAAGTAAAGTTCAACATAAATCTTAATTGTTTCACTTCAATCACTGCTTATAAAGAAAACTCTCAACCAACATTCATGTCTGATAGCACTCTTTTGTCAATTGCAACCAAAAGTTGACAACAAAAACTAGAATTCAATAAAAAGCAACAAATAGGCCTGGCGCGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACAATCCTGGCCAACATGCTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAACATGGTGGTGCGTGCCTGTGATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTTTACTCTGGCCTGGGCAGCAGAGCAAGACTTGGTCTCCAAAAAAAAAAAAAAAAAGCAACAAATTATTCTGAGACTCAACTGGCTATGTGGAATTTACAATAAACTGCATGGTATATTTTCATTATTTGCAAATTGTGTGATACACATCGTTTATATAGTAAAATGTATGATAAGTCTTTTGTGTATATATATGGAATATACATATTCCACCTACACACACACACATACACACACACACACACAGAACAGTCGTTAAATGTTTACCAGCACGCCACTGCCCAGGGGTGAGAACATTCCTCCACAAACTGTACCCCTCCCCAGCACCCCACAAGCCTGGGGGATTTAAGGTCTTGACACTTAAAGCCTGGCCGAAAGCAAAGGGAGTGCATGGCATTTGGGAGAAAGAGCAGTGACCTGCCCCTTGGTAAACCCCTCTTCCTCTCCAGATCTCAGTTTCCCCATCTGAAAAATGGCCATCCTCCGAGGGCCCTCCCGCCGGCGCAGCTCTCAACGCACCTTCTGGATCATGACGCTGTACATGCTCATGGACTGGAAACCCCGCGTATAGTAGAGCATGTTCGCCCAGCCCAGGGCCATGGCCAGCACGAGGCAGGCGAGGTACTCTTTGTAGGCAAACAAGTACAAGAAGACAGACAGTATCACAAGCACAGCTTGGATAAAACTGTTCAGGAGACACAGGAGACACGGGCCTTACTTACTTCTCAGCATCAGGGCAAAGATATGCAAATCCCCCAAACCTCCCTTAAACCCCCTGAACAGTCACCCCGGTGACGGATGCTGAAGAGACCAGAATCACGCTGCCTCAGATCCATTTGGCTACCATAGAATTCAGCCTGTAGAGACATCACCAGATGCCACTCACAGCCTGTGGTAAGCTGATTGCAGCTGGTGGGGACTTTAAAAAAAGAAAAAACACACATCCACAGGGCCGCAGAAGATTCTAGGGTACTGCCCGGGAGGCCATATATTTTTTAAATTACCCACACGGGCCTGGTGTAGTGGCTTTCGCCTGTAATCCCAACACTTTGGGGGGCTGAGATAGGAGAAACGCTTCAGGCCAGGAGTTCAGGACCAGCCTGAGTGACATAGTGAGACCTTGTCTCTACAAAAAAAAAAAAAAAAAGAAAAGAAAAATAATCTAAATCACCCACATAATTTCTGACTCCTGCATCGATTTGAGAACTACTGGAGTAGACCAAAGATGTGGTAAATGATTGTATTTTTAACCAAAATGACAAAAACTGCCAATATCTATACTTAAAAGCCAATCATAGCAAAAGTCCCCCAAACCCTACTTTTTAAATCGTGGTGTTTTTTGGGGGGGTCAGGGGGGCAGAGACAGGGTCTTGCTCTGTCACCTAGGCTGGAGTACAGTGGCATGAACTCTGCTCACTGCAACCTCCGCCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCACCCGCCACCACACCAGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTTCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAACGCGCCCAGCATTAAATCTTTTTAAAGTATGATGTATGCTAAGTGAAATAAGATAGGTGACTCCACTATATGACTGTACCTAAAATAGTCCAATTCACAGAGAAAGATGGAAGAATGGTGGTTACAGGGGGCCGGGAAAGGAGAGGAATAGGGGCTGTTGTTTAAGGGGTATGGAGTTTGAGTTTTACAGGACGAAAACAGTTCTAAAGACTGATTGCCCAACAACATGAATGTACTTCACAGTATTGATTTCTACGCTTAAAAAATGGGTGCAATGCTAACTTTTATGCTATGTGTATTTTACCACAATTAATTTTTTTTTTTTTTTTGAGATGTAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCATGATCTCGGCTCACTGCAGCCTCCGCCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGTGCATGCCACCACACACAAGGCTAATTTTTGTATTTTTTGTAGAGAGAGGGGATTTCACCAGACTGGTCTCAAACTCCTGACCTCAGATGATAGGCCCACCTTGGCCCACCAAAGTGCTGGGATTACAAGCATGACCCATCGTGCCCGGCCCACAGTTAAAATGTTTTTAAGTATAATATATCGCAAACATACAAAATCAATATCTACTCCTACACAGTCACATGCAGACATCTGCATAACATCCATTATGCAGACATCTGGATAAAAACACTGTCTTATAACATCAGACAGTTTCCAAAATTATAAAATAGCTAACCAAAGTCACAACACAGGCACGATTGTAAGAAAAACCATCTAATTCATCAACTGCATTTTAGACTGAAATGAAGAATGTCTCCCTCCACACTAACAAAACAAATAAGAAGCAGAAGAGGCCGGCGCAGGAGCTCACACCTGGAATCCCAGCACTCTGCAAGGCTGAGGTGGGCAGATCACTTGAGGTCAGGA
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Task1_train_23225
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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.
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Pathogenic; Olmsted syndrome 1
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ACTTGTCTCTATCATAGCCATATGGCAGGAATTCTAGAGCGATGTGGATCTGCATGTTTCTCCCTAACTCTATGTCCAGTAACATAATGTTGGTAGCTGGAAATTGGCCCTGAGAGGAGAACAGTAGTCCGCCCTTCTCTTCGATTTCACTTTCTGCAGTTTTGGTTGCCTGTGGTCAACTATGACCCAGAAATATTACACACAATACAATATTCTGAGAGAGACAACATTCACATACTTTTATTACAGTATATTGTTATCATTGTTCTGTTAGTTATTGCCATTAATCTCACTATGCCTAATTGATAAAATAAATTTTATAAATTCCACATAGCCAGTTGAGTCTTAGAATAATTTGTTGATTCCCCCCCCCACCCCCCAGCACTTTGGGAGGCCGAGGCGGACGGATCACCTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGGGGCGGGAGAATTGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACTATTGCACTCCAGCCTGGGCAACAGAGCGAGACTCAGTCACAAACAAAAAAAAAAAAAAAAAGCAAAAATTATTCTAAGACTCAACTGGCTAAGTGGAATTTACAATAAACTGTATTGTATAGTATATTTTCATTATTTGCATAGATGTATATGTATAGGAAAAAACATAGCATATTATATAATGTTTGGTACTATCTGCAGTTTCAGGCATTCATGGGGGGTCTTAGAACATCTCCCCCAAGAATAAGGGGGGACTACTGTATTTACATCATGAAAATTGGTAAATGCCACAAATCAGAGATTGATTGACTCATTGTTTTGTTGATATCTAGATCTAAATGATTTAAGACAGTGATGGAGAAACTATTAATCCAGTTTAAATTTTAAAATGTGTTCTGTCTGCAGCCTTTACATTATGTATAGCACAAAAATATCAACAGAATATTATTCTGGTATTTGCAAACTAGTATCCAATTCAGCAAAGAAGTTGCTCACATCATTGATAAACAAGTAAAGTTCAACATAAATCTTAATTGTTTCACTTCAATCACTGCTTATAAAGAAAACTCTCAACCAACATTCATGTCTGATAGCACTCTTTTGTCAATTGCAACCAAAAGTTGACAACAAAAACTAGAATTCAATAAAAAGCAACAAATAGGCCTGGCGCGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACAATCCTGGCCAACATGCTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAACATGGTGGTGCGTGCCTGTGATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTTTACTCTGGCCTGGGCAGCAGAGCAAGACTTGGTCTCCAAAAAAAAAAAAAAAAAGCAACAAATTATTCTGAGACTCAACTGGCTATGTGGAATTTACAATAAACTGCATGGTATATTTTCATTATTTGCAAATTGTGTGATACACATCGTTTATATAGTAAAATGTATGATAAGTCTTTTGTGTATATATATGGAATATACATATTCCACCTACACACACACACATACACACACACACACACAGAACAGTCGTTAAATGTTTACCAGCACGCCACTGCCCAGGGGTGAGAACATTCCTCCACAAACTGTACCCCTCCCCAGCACCCCACAAGCCTGGGGGATTTAAGGTCTTGACACTTAAAGCCTGGCCGAAAGCAAAGGGAGTGCATGGCATTTGGGAGAAAGAGCAGTGACCTGCCCCTTGGTAAACCCCTCTTCCTCTCCAGATCTCAGTTTCCCCATCTGAAAAATGGCCATCCTCCGAGGGCCCTCCCGCCGGCGCAGCTCTCAACGCACCTTCTGGATCATGACGCTGTACATGCCCATGGACTGGAAACCCCGCGTATAGTAGAGCATGTTCGCCCAGCCCAGGGCCATGGCCAGCACGAGGCAGGCGAGGTACTCTTTGTAGGCAAACAAGTACAAGAAGACAGACAGTATCACAAGCACAGCTTGGATAAAACTGTTCAGGAGACACAGGAGACACGGGCCTTACTTACTTCTCAGCATCAGGGCAAAGATATGCAAATCCCCCAAACCTCCCTTAAACCCCCTGAACAGTCACCCCGGTGACGGATGCTGAAGAGACCAGAATCACGCTGCCTCAGATCCATTTGGCTACCATAGAATTCAGCCTGTAGAGACATCACCAGATGCCACTCACAGCCTGTGGTAAGCTGATTGCAGCTGGTGGGGACTTTAAAAAAAGAAAAAACACACATCCACAGGGCCGCAGAAGATTCTAGGGTACTGCCCGGGAGGCCATATATTTTTTAAATTACCCACACGGGCCTGGTGTAGTGGCTTTCGCCTGTAATCCCAACACTTTGGGGGGCTGAGATAGGAGAAACGCTTCAGGCCAGGAGTTCAGGACCAGCCTGAGTGACATAGTGAGACCTTGTCTCTACAAAAAAAAAAAAAAAAAGAAAAGAAAAATAATCTAAATCACCCACATAATTTCTGACTCCTGCATCGATTTGAGAACTACTGGAGTAGACCAAAGATGTGGTAAATGATTGTATTTTTAACCAAAATGACAAAAACTGCCAATATCTATACTTAAAAGCCAATCATAGCAAAAGTCCCCCAAACCCTACTTTTTAAATCGTGGTGTTTTTTGGGGGGGTCAGGGGGGCAGAGACAGGGTCTTGCTCTGTCACCTAGGCTGGAGTACAGTGGCATGAACTCTGCTCACTGCAACCTCCGCCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCACCCGCCACCACACCAGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTTCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAACGCGCCCAGCATTAAATCTTTTTAAAGTATGATGTATGCTAAGTGAAATAAGATAGGTGACTCCACTATATGACTGTACCTAAAATAGTCCAATTCACAGAGAAAGATGGAAGAATGGTGGTTACAGGGGGCCGGGAAAGGAGAGGAATAGGGGCTGTTGTTTAAGGGGTATGGAGTTTGAGTTTTACAGGACGAAAACAGTTCTAAAGACTGATTGCCCAACAACATGAATGTACTTCACAGTATTGATTTCTACGCTTAAAAAATGGGTGCAATGCTAACTTTTATGCTATGTGTATTTTACCACAATTAATTTTTTTTTTTTTTTTGAGATGTAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCATGATCTCGGCTCACTGCAGCCTCCGCCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGTGCATGCCACCACACACAAGGCTAATTTTTGTATTTTTTGTAGAGAGAGGGGATTTCACCAGACTGGTCTCAAACTCCTGACCTCAGATGATAGGCCCACCTTGGCCCACCAAAGTGCTGGGATTACAAGCATGACCCATCGTGCCCGGCCCACAGTTAAAATGTTTTTAAGTATAATATATCGCAAACATACAAAATCAATATCTACTCCTACACAGTCACATGCAGACATCTGCATAACATCCATTATGCAGACATCTGGATAAAAACACTGTCTTATAACATCAGACAGTTTCCAAAATTATAAAATAGCTAACCAAAGTCACAACACAGGCACGATTGTAAGAAAAACCATCTAATTCATCAACTGCATTTTAGACTGAAATGAAGAATGTCTCCCTCCACACTAACAAAACAAATAAGAAGCAGAAGAGGCCGGCGCAGGAGCTCACACCTGGAATCCCAGCACTCTGCAAGGCTGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCC
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ACTTGTCTCTATCATAGCCATATGGCAGGAATTCTAGAGCGATGTGGATCTGCATGTTTCTCCCTAACTCTATGTCCAGTAACATAATGTTGGTAGCTGGAAATTGGCCCTGAGAGGAGAACAGTAGTCCGCCCTTCTCTTCGATTTCACTTTCTGCAGTTTTGGTTGCCTGTGGTCAACTATGACCCAGAAATATTACACACAATACAATATTCTGAGAGAGACAACATTCACATACTTTTATTACAGTATATTGTTATCATTGTTCTGTTAGTTATTGCCATTAATCTCACTATGCCTAATTGATAAAATAAATTTTATAAATTCCACATAGCCAGTTGAGTCTTAGAATAATTTGTTGATTCCCCCCCCCACCCCCCAGCACTTTGGGAGGCCGAGGCGGACGGATCACCTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGGGGCGGGAGAATTGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACTATTGCACTCCAGCCTGGGCAACAGAGCGAGACTCAGTCACAAACAAAAAAAAAAAAAAAAAGCAAAAATTATTCTAAGACTCAACTGGCTAAGTGGAATTTACAATAAACTGTATTGTATAGTATATTTTCATTATTTGCATAGATGTATATGTATAGGAAAAAACATAGCATATTATATAATGTTTGGTACTATCTGCAGTTTCAGGCATTCATGGGGGGTCTTAGAACATCTCCCCCAAGAATAAGGGGGGACTACTGTATTTACATCATGAAAATTGGTAAATGCCACAAATCAGAGATTGATTGACTCATTGTTTTGTTGATATCTAGATCTAAATGATTTAAGACAGTGATGGAGAAACTATTAATCCAGTTTAAATTTTAAAATGTGTTCTGTCTGCAGCCTTTACATTATGTATAGCACAAAAATATCAACAGAATATTATTCTGGTATTTGCAAACTAGTATCCAATTCAGCAAAGAAGTTGCTCACATCATTGATAAACAAGTAAAGTTCAACATAAATCTTAATTGTTTCACTTCAATCACTGCTTATAAAGAAAACTCTCAACCAACATTCATGTCTGATAGCACTCTTTTGTCAATTGCAACCAAAAGTTGACAACAAAAACTAGAATTCAATAAAAAGCAACAAATAGGCCTGGCGCGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACAATCCTGGCCAACATGCTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAACATGGTGGTGCGTGCCTGTGATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTTTACTCTGGCCTGGGCAGCAGAGCAAGACTTGGTCTCCAAAAAAAAAAAAAAAAAGCAACAAATTATTCTGAGACTCAACTGGCTATGTGGAATTTACAATAAACTGCATGGTATATTTTCATTATTTGCAAATTGTGTGATACACATCGTTTATATAGTAAAATGTATGATAAGTCTTTTGTGTATATATATGGAATATACATATTCCACCTACACACACACACATACACACACACACACACAGAACAGTCGTTAAATGTTTACCAGCACGCCACTGCCCAGGGGTGAGAACATTCCTCCACAAACTGTACCCCTCCCCAGCACCCCACAAGCCTGGGGGATTTAAGGTCTTGACACTTAAAGCCTGGCCGAAAGCAAAGGGAGTGCATGGCATTTGGGAGAAAGAGCAGTGACCTGCCCCTTGGTAAACCCCTCTTCCTCTCCAGATCTCAGTTTCCCCATCTGAAAAATGGCCATCCTCCGAGGGCCCTCCCGCCGGCGCAGCTCTCAACGCACCTTCTGGATCATGACGCTGTACATGCCCATGGACTGGAAAACCCGCGTATAGTAGAGCATGTTCGCCCAGCCCAGGGCCATGGCCAGCACGAGGCAGGCGAGGTACTCTTTGTAGGCAAACAAGTACAAGAAGACAGACAGTATCACAAGCACAGCTTGGATAAAACTGTTCAGGAGACACAGGAGACACGGGCCTTACTTACTTCTCAGCATCAGGGCAAAGATATGCAAATCCCCCAAACCTCCCTTAAACCCCCTGAACAGTCACCCCGGTGACGGATGCTGAAGAGACCAGAATCACGCTGCCTCAGATCCATTTGGCTACCATAGAATTCAGCCTGTAGAGACATCACCAGATGCCACTCACAGCCTGTGGTAAGCTGATTGCAGCTGGTGGGGACTTTAAAAAAAGAAAAAACACACATCCACAGGGCCGCAGAAGATTCTAGGGTACTGCCCGGGAGGCCATATATTTTTTAAATTACCCACACGGGCCTGGTGTAGTGGCTTTCGCCTGTAATCCCAACACTTTGGGGGGCTGAGATAGGAGAAACGCTTCAGGCCAGGAGTTCAGGACCAGCCTGAGTGACATAGTGAGACCTTGTCTCTACAAAAAAAAAAAAAAAAAGAAAAGAAAAATAATCTAAATCACCCACATAATTTCTGACTCCTGCATCGATTTGAGAACTACTGGAGTAGACCAAAGATGTGGTAAATGATTGTATTTTTAACCAAAATGACAAAAACTGCCAATATCTATACTTAAAAGCCAATCATAGCAAAAGTCCCCCAAACCCTACTTTTTAAATCGTGGTGTTTTTTGGGGGGGTCAGGGGGGCAGAGACAGGGTCTTGCTCTGTCACCTAGGCTGGAGTACAGTGGCATGAACTCTGCTCACTGCAACCTCCGCCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCACCCGCCACCACACCAGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTTCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAACGCGCCCAGCATTAAATCTTTTTAAAGTATGATGTATGCTAAGTGAAATAAGATAGGTGACTCCACTATATGACTGTACCTAAAATAGTCCAATTCACAGAGAAAGATGGAAGAATGGTGGTTACAGGGGGCCGGGAAAGGAGAGGAATAGGGGCTGTTGTTTAAGGGGTATGGAGTTTGAGTTTTACAGGACGAAAACAGTTCTAAAGACTGATTGCCCAACAACATGAATGTACTTCACAGTATTGATTTCTACGCTTAAAAAATGGGTGCAATGCTAACTTTTATGCTATGTGTATTTTACCACAATTAATTTTTTTTTTTTTTTTGAGATGTAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCATGATCTCGGCTCACTGCAGCCTCCGCCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGTGCATGCCACCACACACAAGGCTAATTTTTGTATTTTTTGTAGAGAGAGGGGATTTCACCAGACTGGTCTCAAACTCCTGACCTCAGATGATAGGCCCACCTTGGCCCACCAAAGTGCTGGGATTACAAGCATGACCCATCGTGCCCGGCCCACAGTTAAAATGTTTTTAAGTATAATATATCGCAAACATACAAAATCAATATCTACTCCTACACAGTCACATGCAGACATCTGCATAACATCCATTATGCAGACATCTGGATAAAAACACTGTCTTATAACATCAGACAGTTTCCAAAATTATAAAATAGCTAACCAAAGTCACAACACAGGCACGATTGTAAGAAAAACCATCTAATTCATCAACTGCATTTTAGACTGAAATGAAGAATGTCTCCCTCCACACTAACAAAACAAATAAGAAGCAGAAGAGGCCGGCGCAGGAGCTCACACCTGGAATCCCAGCACTCTGCAAGGCTGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCC
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Task1_train_23226
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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?
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Pathogenic; not provided
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ACTTGTCTCTATCATAGCCATATGGCAGGAATTCTAGAGCGATGTGGATCTGCATGTTTCTCCCTAACTCTATGTCCAGTAACATAATGTTGGTAGCTGGAAATTGGCCCTGAGAGGAGAACAGTAGTCCGCCCTTCTCTTCGATTTCACTTTCTGCAGTTTTGGTTGCCTGTGGTCAACTATGACCCAGAAATATTACACACAATACAATATTCTGAGAGAGACAACATTCACATACTTTTATTACAGTATATTGTTATCATTGTTCTGTTAGTTATTGCCATTAATCTCACTATGCCTAATTGATAAAATAAATTTTATAAATTCCACATAGCCAGTTGAGTCTTAGAATAATTTGTTGATTCCCCCCCCCACCCCCCAGCACTTTGGGAGGCCGAGGCGGACGGATCACCTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGGGGCGGGAGAATTGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACTATTGCACTCCAGCCTGGGCAACAGAGCGAGACTCAGTCACAAACAAAAAAAAAAAAAAAAAGCAAAAATTATTCTAAGACTCAACTGGCTAAGTGGAATTTACAATAAACTGTATTGTATAGTATATTTTCATTATTTGCATAGATGTATATGTATAGGAAAAAACATAGCATATTATATAATGTTTGGTACTATCTGCAGTTTCAGGCATTCATGGGGGGTCTTAGAACATCTCCCCCAAGAATAAGGGGGGACTACTGTATTTACATCATGAAAATTGGTAAATGCCACAAATCAGAGATTGATTGACTCATTGTTTTGTTGATATCTAGATCTAAATGATTTAAGACAGTGATGGAGAAACTATTAATCCAGTTTAAATTTTAAAATGTGTTCTGTCTGCAGCCTTTACATTATGTATAGCACAAAAATATCAACAGAATATTATTCTGGTATTTGCAAACTAGTATCCAATTCAGCAAAGAAGTTGCTCACATCATTGATAAACAAGTAAAGTTCAACATAAATCTTAATTGTTTCACTTCAATCACTGCTTATAAAGAAAACTCTCAACCAACATTCATGTCTGATAGCACTCTTTTGTCAATTGCAACCAAAAGTTGACAACAAAAACTAGAATTCAATAAAAAGCAACAAATAGGCCTGGCGCGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACAATCCTGGCCAACATGCTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAACATGGTGGTGCGTGCCTGTGATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTTTACTCTGGCCTGGGCAGCAGAGCAAGACTTGGTCTCCAAAAAAAAAAAAAAAAAGCAACAAATTATTCTGAGACTCAACTGGCTATGTGGAATTTACAATAAACTGCATGGTATATTTTCATTATTTGCAAATTGTGTGATACACATCGTTTATATAGTAAAATGTATGATAAGTCTTTTGTGTATATATATGGAATATACATATTCCACCTACACACACACACATACACACACACACACACAGAACAGTCGTTAAATGTTTACCAGCACGCCACTGCCCAGGGGTGAGAACATTCCTCCACAAACTGTACCCCTCCCCAGCACCCCACAAGCCTGGGGGATTTAAGGTCTTGACACTTAAAGCCTGGCCGAAAGCAAAGGGAGTGCATGGCATTTGGGAGAAAGAGCAGTGACCTGCCCCTTGGTAAACCCCTCTTCCTCTCCAGATCTCAGTTTCCCCATCTGAAAAATGGCCATCCTCCGAGGGCCCTCCCGCCGGCGCAGCTCTCAACGCACCTTCTGGATCATGACGCTGTACATGCCCATGGACTGGAAACCCCGCGTATAGTAGAGCATGTTCGCCCAGCCCAGGGCCATGGCCAGCACGAGGCAGGCGAGGTACTCTTTGTAGGCAAACAAGTACAAGAAGACAGACAGTATCACAAGCACAGCTTGGATAAAACTGTTCAGGAGACACAGGAGACACGGGCCTTACTTACTTCTCAGCATCAGGGCAAAGATATGCAAATCCCCCAAACCTCCCTTAAACCCCCTGAACAGTCACCCCGGTGACGGATGCTGAAGAGACCAGAATCACGCTGCCTCAGATCCATTTGGCTACCATAGAATTCAGCCTGTAGAGACATCACCAGATGCCACTCACAGCCTGTGGTAAGCTGATTGCAGCTGGTGGGGACTTTAAAAAAAGAAAAAACACACATCCACAGGGCCGCAGAAGATTCTAGGGTACTGCCCGGGAGGCCATATATTTTTTAAATTACCCACACGGGCCTGGTGTAGTGGCTTTCGCCTGTAATCCCAACACTTTGGGGGGCTGAGATAGGAGAAACGCTTCAGGCCAGGAGTTCAGGACCAGCCTGAGTGACATAGTGAGACCTTGTCTCTACAAAAAAAAAAAAAAAAAGAAAAGAAAAATAATCTAAATCACCCACATAATTTCTGACTCCTGCATCGATTTGAGAACTACTGGAGTAGACCAAAGATGTGGTAAATGATTGTATTTTTAACCAAAATGACAAAAACTGCCAATATCTATACTTAAAAGCCAATCATAGCAAAAGTCCCCCAAACCCTACTTTTTAAATCGTGGTGTTTTTTGGGGGGGTCAGGGGGGCAGAGACAGGGTCTTGCTCTGTCACCTAGGCTGGAGTACAGTGGCATGAACTCTGCTCACTGCAACCTCCGCCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCACCCGCCACCACACCAGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTTCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAACGCGCCCAGCATTAAATCTTTTTAAAGTATGATGTATGCTAAGTGAAATAAGATAGGTGACTCCACTATATGACTGTACCTAAAATAGTCCAATTCACAGAGAAAGATGGAAGAATGGTGGTTACAGGGGGCCGGGAAAGGAGAGGAATAGGGGCTGTTGTTTAAGGGGTATGGAGTTTGAGTTTTACAGGACGAAAACAGTTCTAAAGACTGATTGCCCAACAACATGAATGTACTTCACAGTATTGATTTCTACGCTTAAAAAATGGGTGCAATGCTAACTTTTATGCTATGTGTATTTTACCACAATTAATTTTTTTTTTTTTTTTGAGATGTAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCATGATCTCGGCTCACTGCAGCCTCCGCCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGTGCATGCCACCACACACAAGGCTAATTTTTGTATTTTTTGTAGAGAGAGGGGATTTCACCAGACTGGTCTCAAACTCCTGACCTCAGATGATAGGCCCACCTTGGCCCACCAAAGTGCTGGGATTACAAGCATGACCCATCGTGCCCGGCCCACAGTTAAAATGTTTTTAAGTATAATATATCGCAAACATACAAAATCAATATCTACTCCTACACAGTCACATGCAGACATCTGCATAACATCCATTATGCAGACATCTGGATAAAAACACTGTCTTATAACATCAGACAGTTTCCAAAATTATAAAATAGCTAACCAAAGTCACAACACAGGCACGATTGTAAGAAAAACCATCTAATTCATCAACTGCATTTTAGACTGAAATGAAGAATGTCTCCCTCCACACTAACAAAACAAATAAGAAGCAGAAGAGGCCGGCGCAGGAGCTCACACCTGGAATCCCAGCACTCTGCAAGGCTGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCC
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ACTTGTCTCTATCATAGCCATATGGCAGGAATTCTAGAGCGATGTGGATCTGCATGTTTCTCCCTAACTCTATGTCCAGTAACATAATGTTGGTAGCTGGAAATTGGCCCTGAGAGGAGAACAGTAGTCCGCCCTTCTCTTCGATTTCACTTTCTGCAGTTTTGGTTGCCTGTGGTCAACTATGACCCAGAAATATTACACACAATACAATATTCTGAGAGAGACAACATTCACATACTTTTATTACAGTATATTGTTATCATTGTTCTGTTAGTTATTGCCATTAATCTCACTATGCCTAATTGATAAAATAAATTTTATAAATTCCACATAGCCAGTTGAGTCTTAGAATAATTTGTTGATTCCCCCCCCCACCCCCCAGCACTTTGGGAGGCCGAGGCGGACGGATCACCTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGGGGCGGGAGAATTGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACTATTGCACTCCAGCCTGGGCAACAGAGCGAGACTCAGTCACAAACAAAAAAAAAAAAAAAAAGCAAAAATTATTCTAAGACTCAACTGGCTAAGTGGAATTTACAATAAACTGTATTGTATAGTATATTTTCATTATTTGCATAGATGTATATGTATAGGAAAAAACATAGCATATTATATAATGTTTGGTACTATCTGCAGTTTCAGGCATTCATGGGGGGTCTTAGAACATCTCCCCCAAGAATAAGGGGGGACTACTGTATTTACATCATGAAAATTGGTAAATGCCACAAATCAGAGATTGATTGACTCATTGTTTTGTTGATATCTAGATCTAAATGATTTAAGACAGTGATGGAGAAACTATTAATCCAGTTTAAATTTTAAAATGTGTTCTGTCTGCAGCCTTTACATTATGTATAGCACAAAAATATCAACAGAATATTATTCTGGTATTTGCAAACTAGTATCCAATTCAGCAAAGAAGTTGCTCACATCATTGATAAACAAGTAAAGTTCAACATAAATCTTAATTGTTTCACTTCAATCACTGCTTATAAAGAAAACTCTCAACCAACATTCATGTCTGATAGCACTCTTTTGTCAATTGCAACCAAAAGTTGACAACAAAAACTAGAATTCAATAAAAAGCAACAAATAGGCCTGGCGCGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACAATCCTGGCCAACATGCTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAACATGGTGGTGCGTGCCTGTGATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGGGAGCCGAGATCGCACCACTTTACTCTGGCCTGGGCAGCAGAGCAAGACTTGGTCTCCAAAAAAAAAAAAAAAAAGCAACAAATTATTCTGAGACTCAACTGGCTATGTGGAATTTACAATAAACTGCATGGTATATTTTCATTATTTGCAAATTGTGTGATACACATCGTTTATATAGTAAAATGTATGATAAGTCTTTTGTGTATATATATGGAATATACATATTCCACCTACACACACACACATACACACACACACACACAGAACAGTCGTTAAATGTTTACCAGCACGCCACTGCCCAGGGGTGAGAACATTCCTCCACAAACTGTACCCCTCCCCAGCACCCCACAAGCCTGGGGGATTTAAGGTCTTGACACTTAAAGCCTGGCCGAAAGCAAAGGGAGTGCATGGCATTTGGGAGAAAGAGCAGTGACCTGCCCCTTGGTAAACCCCTCTTCCTCTCCAGATCTCAGTTTCCCCATCTGAAAAATGGCCATCCTCCGAGGGCCCTCCCGCCGGCGCAGCTCTCAACGCACCTTCTGGATCATGACGCTGTACATGCCCATGGACTGGAAATCCCGCGTATAGTAGAGCATGTTCGCCCAGCCCAGGGCCATGGCCAGCACGAGGCAGGCGAGGTACTCTTTGTAGGCAAACAAGTACAAGAAGACAGACAGTATCACAAGCACAGCTTGGATAAAACTGTTCAGGAGACACAGGAGACACGGGCCTTACTTACTTCTCAGCATCAGGGCAAAGATATGCAAATCCCCCAAACCTCCCTTAAACCCCCTGAACAGTCACCCCGGTGACGGATGCTGAAGAGACCAGAATCACGCTGCCTCAGATCCATTTGGCTACCATAGAATTCAGCCTGTAGAGACATCACCAGATGCCACTCACAGCCTGTGGTAAGCTGATTGCAGCTGGTGGGGACTTTAAAAAAAGAAAAAACACACATCCACAGGGCCGCAGAAGATTCTAGGGTACTGCCCGGGAGGCCATATATTTTTTAAATTACCCACACGGGCCTGGTGTAGTGGCTTTCGCCTGTAATCCCAACACTTTGGGGGGCTGAGATAGGAGAAACGCTTCAGGCCAGGAGTTCAGGACCAGCCTGAGTGACATAGTGAGACCTTGTCTCTACAAAAAAAAAAAAAAAAAGAAAAGAAAAATAATCTAAATCACCCACATAATTTCTGACTCCTGCATCGATTTGAGAACTACTGGAGTAGACCAAAGATGTGGTAAATGATTGTATTTTTAACCAAAATGACAAAAACTGCCAATATCTATACTTAAAAGCCAATCATAGCAAAAGTCCCCCAAACCCTACTTTTTAAATCGTGGTGTTTTTTGGGGGGGTCAGGGGGGCAGAGACAGGGTCTTGCTCTGTCACCTAGGCTGGAGTACAGTGGCATGAACTCTGCTCACTGCAACCTCCGCCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCACCCGCCACCACACCAGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTTCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAACGCGCCCAGCATTAAATCTTTTTAAAGTATGATGTATGCTAAGTGAAATAAGATAGGTGACTCCACTATATGACTGTACCTAAAATAGTCCAATTCACAGAGAAAGATGGAAGAATGGTGGTTACAGGGGGCCGGGAAAGGAGAGGAATAGGGGCTGTTGTTTAAGGGGTATGGAGTTTGAGTTTTACAGGACGAAAACAGTTCTAAAGACTGATTGCCCAACAACATGAATGTACTTCACAGTATTGATTTCTACGCTTAAAAAATGGGTGCAATGCTAACTTTTATGCTATGTGTATTTTACCACAATTAATTTTTTTTTTTTTTTTGAGATGTAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCATGATCTCGGCTCACTGCAGCCTCCGCCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGTGCATGCCACCACACACAAGGCTAATTTTTGTATTTTTTGTAGAGAGAGGGGATTTCACCAGACTGGTCTCAAACTCCTGACCTCAGATGATAGGCCCACCTTGGCCCACCAAAGTGCTGGGATTACAAGCATGACCCATCGTGCCCGGCCCACAGTTAAAATGTTTTTAAGTATAATATATCGCAAACATACAAAATCAATATCTACTCCTACACAGTCACATGCAGACATCTGCATAACATCCATTATGCAGACATCTGGATAAAAACACTGTCTTATAACATCAGACAGTTTCCAAAATTATAAAATAGCTAACCAAAGTCACAACACAGGCACGATTGTAAGAAAAACCATCTAATTCATCAACTGCATTTTAGACTGAAATGAAGAATGTCTCCCTCCACACTAACAAAACAAATAAGAAGCAGAAGAGGCCGGCGCAGGAGCTCACACCTGGAATCCCAGCACTCTGCAAGGCTGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCC
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Task1_train_23227
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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?
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Pathogenic; not provided
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AAGAAACAGTGCACCCTCTTCATGGCCCTCAGCAGGGGAGCTGAGCAGAGGGTGCTTCCCCAGGACCAAGACTCAGTGAGGGTTGAATGCACAAAGGCCCAGCTAGAGTCCAGGTGGCGGATCTGAAAGGGGACCTGTGCCTGGGGGGCGTAGGCACCTCCACGGTGAAGGTGAACGCTCCCTCAAATCTTCTCACCTCCCTCACTCCTTACCCCATCCTCACCCCAGAACCTGCAAAGCGGTACTACCACTACAGCCGCCTTCCATTCCCCACATCCAGCCTAGCGTTCCAGCCTCCGAGCCTTTGCTCATGCTGTTCCCCATATCCACCCTGTAATGACCTTGTCCTCATCGTCCTCGTGCCCAATCCTACCCCACCAGAGTAAGTGCCATCTCTGCCTTCAAGCATCTCTACCATTCCCTGTCCCCAGATAAAAGTCACCTCCCTTCCTCTGAACACTGATCTGAACCCAGCTTAGGGTCTTTTTCGGTCTATCATAAAGTCTTGATATTTATGCCTATGCTATGTCCCCAACCAGGCTGTGAATTCAAAGAGGGCAAACTCGTCCCAACCCTGTCACCTCCTCCAGGGCCACACATATATAGAAGGTGCTCAGATTATATGTGTTGATTCATTGGATGGATGGAAGGATGGATGGATGGATGGATGGATGGACGGATGGACAGATGGAGAGATGGAAAGATGGTTGGATAAAGGATAGAAGGATGGTCGGTAAGGATGAGTGGACATGTGAATGGATGAATGAGTGGCTGGGTCCATGAAAGAGGGCAGGTGATCGGATGGGTGGATGGGGGTGGAAGAGGACAAGGGACACTGAGTGGCTGGGAAGGTAGATAAATGGCGGATAGTTGGGCAGATGGATAGAGAAGTAGATGGATGAAGTAGGTAGGATAGGCCAGCCTTATCCATTTTTTCCCATGTTATAACTCAGAAAGGTAAGGCTTGGGAAGGAAACGCCTCCCCAGAACCCCCCAGCAGTAATGGCAGAGCAGAGAGGGATGGAGGCTGTCACCTGCCTGCCTCGCGGGGCGGTCTGGAAGGGCCGGGTGGCCCACTTACCTCTTTCACAGAGATGCACATGGCCCAGATGAGCACAAACATCCTCCCTAGGAGCTGCAGCCACCCCATCTTGTGCGTCAGGGCCAAGGGGTGCGGGATGGCCTGCAGGGAAAGAAGAGGGGTGGTCAGTATAGGAAGCAAGGAGGACAGGGCTGGCACCAACTCTAGAGGGACCAAAACCCAGGTGAAACACTCAAGCCGGGCCAGAGACCAGCATGAAACCTGATCTCTGTACAGGGCAAGAGAAGGAAGAGCAGCTCCCTGACCCCAACTCTCCTCACCCTTGATGGAAACCCAGAACTCTACAACGAAGAATATCATCCAATCCGTGCTAACAACCCTCACACTCCATTGCAATAGCCTTTCCGGAACCCATCCATATCCAGGCACTCAACATGGCCTCACAGCACCGTTAAATAAAGCCGAGGCTCTGTGCCCCACGTGACGCATGGGAAACCGAAGCCCAGCAGGCAGGGAGAGCTTATCCTCCTCCCGTTTCCTGCAGCCCTCACAGCAGAAACACCCAGCTAGTTCTATATTTACAGACAGAGACCCTGTGCAGGGCCTGAGTCTCCGAATTCTCCAACTTTCCTCCCAGCAAGGGTCTGCCCTTGGGACTCGGCACCTGGGGCTTAGCCCAGGCTAAGCACTGAAGACATATTCAGTTCCCTGGGAAGCGTGAAGGACAACTGGGGGACCCCGCCCAATCTCCTGGTCTCTCTGGGCCTCAGTTTTCCCACCTGCACGTGGGGCAGCTCCAAGCCCCTCCAGCTCTGACGGCCCCATTTTCCCCCTCCAAGGGGCCCACGTACCTCCTCCTCCCGGGGGCGGTAGTACGAGACGAGGGTCAGGGTGATGTTGTAGAAGAAATAAAAGCAGAAGGACAGAAAGAACATGTGCTTGGCAAACTTCTTCCACTTCATATGCAGCAGCGTGTGCAGCGGCTCCAGGGTCAGCATCTCATGCCGGTTCTAGGGGTAGAATGCCACCAGTCACCATGGAGATGAGGGAGAGAGGGAGGGACCGTTTTCTAAAGGCCTGCGGGAGCTCTGAGTCAGTGCTGCAGAAGGGGCCCATCATTATGCCCGATGGACTGGTCTGGTTGGAAATGCTGGGAGGGTGATTTCCGGCTCCTGAGGCTCCTCCCCAGGGTACTAGGGCAGCAGTCAGAGGCCGCAGGAGCCCGGGCTTGCAGCAGGAGGACCCGATGCACAGCAGAAAGTGGAGGATAGAAGCGGGCAGGAGGTGGTGGCAGGGGTTCCAGCCCCAGTTTGCTCCTCCTTTGCTGTGTGACTTTAGGACAGACCCTGACCCTCTCTGGGCCTCAGACTCCTCACCTATAAAACTGCTAACAATCCCTGCCCTACCAACCAGGCTGCTGTGAGGGTCTGGGAAGACCCAAGGCAAGGGGACTCTGGGAAGCATGACTCTTAGTAAAGTATGAAGGAGGAAGACCCAGCCTGCTGCCTCACTGCCCCCAAGAGCTGAACACCTCTCATAGCTGCTCCTCTCTTCACCTCCAGTTGCACCGAACTCTCCCCTCTAGCCTCCTCCAGGAAGGCCCCCCGATTGCTCCTCAGTGCACTCTCTGACCCTCATTTGGGACCAGGTTTTGGGGAAGAAAGAATTCTAAGCCTGGCCGTATACACCAACGGGGGGTGGGAGAGAAACAATATGGAAAGGATCAACCCCAATCACCCCATCACCCACACCCACACCCAAACAGCCCTGGATACTCGGTCCAGAAGACCTCCCGCCCACCGCCCCCGCCACCACCACTCAGGTCTACAGTCCAAGGTCAATCAGGAAGAGTCGGGCCCAGCATCTGTCCCAGGCCTCGCCTTTTCTGTGCCTGACTCTGCTCACTGAGGCAACAGAGTGGGGTATGCAGATGCCGAGGGATGGAGCTGGCAGCACTGGGTCTTCCCAGCGTCCTCTCAGCCCCTGGCCTGAGGTCCAGCCCTCTTCTCCCTGCCCTTCCCCGCCTGTGCAGGAGACCCACGTCGATGTTGGTGTTGTAGACAGTGATTTCCAGCACTGAGTTGTCCGTGGTGGTGTCCACGTTGGTGAGGTCGTAGAGGGAGGATGACACGGGTCCGTACGCCCAGTCGGTGAACTTCCTGGACAGGCTCCGGAGCCGCTTCTCCTTGATCTCACGACTGAGGATGTACTTCAGGATCTGGGACAGGAGGAGGAACAACCATCAGCTGCAGAACAGGGGCTTAAGGCCAACAGGGCTGGACCAGCCAGAGGCTGGCTGGGCCCAGGGGATACACCCGCCCAGAATGGGTGGAGACCTGCCTCTGCGCCTGGCGCCATGGCCCCTGGGCCCCGTCTTTATCTGTGGAATGCGCACAAAGCTTGCTGTTCCGCCCATCTCACTGGGGGTTGTGAATACCAGGGACAAAGGGTGTGAAGGTTCTTCGCAGGCTGCAGCAAGCTGCACAATCAGCTTGAAATGCCTCACGCCAGCTGGGGACCCGGTTCGGTGAAAAATCCAGGCACTGATGATTTTTTAGAAACAGTTTCCATTTGCTCTGGACTTGAGAAGAAGCCAGAAGTGTTCTCAGCGTCCCCAGCCCACCCTAAGCCAAGACTCCTCCAGCTGTGGCTCACCACTCTGGCCAGGCAGGTGGTGACGAGAGACACCACGCCCTACAGGGAGGCCCGTGGGACTTCGGTAGGCCAGTGATCCTCAAACTCTGCTGCATGTTAGGGCTGCTGGGAAACTTAGAAATTCCCACAGCATGGCCAGGTGCAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGGAATCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTAACCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTCGCTTGAACCTGGGAGGTGGAGGTTGCCGTGAGCCATGATTGCGCCACTGCACTCCAGCCTGGGCAATGA
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AAGAAACAGTGCACCCTCTTCATGGCCCTCAGCAGGGGAGCTGAGCAGAGGGTGCTTCCCCAGGACCAAGACTCAGTGAGGGTTGAATGCACAAAGGCCCAGCTAGAGTCCAGGTGGCGGATCTGAAAGGGGACCTGTGCCTGGGGGGCGTAGGCACCTCCACGGTGAAGGTGAACGCTCCCTCAAATCTTCTCACCTCCCTCACTCCTTACCCCATCCTCACCCCAGAACCTGCAAAGCGGTACTACCACTACAGCCGCCTTCCATTCCCCACATCCAGCCTAGCGTTCCAGCCTCCGAGCCTTTGCTCATGCTGTTCCCCATATCCACCCTGTAATGACCTTGTCCTCATCGTCCTCGTGCCCAATCCTACCCCACCAGAGTAAGTGCCATCTCTGCCTTCAAGCATCTCTACCATTCCCTGTCCCCAGATAAAAGTCACCTCCCTTCCTCTGAACACTGATCTGAACCCAGCTTAGGGTCTTTTTCGGTCTATCATAAAGTCTTGATATTTATGCCTATGCTATGTCCCCAACCAGGCTGTGAATTCAAAGAGGGCAAACTCGTCCCAACCCTGTCACCTCCTCCAGGGCCACACATATATAGAAGGTGCTCAGATTATATGTGTTGATTCATTGGATGGATGGAAGGATGGATGGATGGATGGATGGATGGACGGATGGACAGATGGAGAGATGGAAAGATGGTTGGATAAAGGATAGAAGGATGGTCGGTAAGGATGAGTGGACATGTGAATGGATGAATGAGTGGCTGGGTCCATGAAAGAGGGCAGGTGATCGGATGGGTGGATGGGGGTGGAAGAGGACAAGGGACACTGAGTGGCTGGGAAGGTAGATAAATGGCGGATAGTTGGGCAGATGGATAGAGAAGTAGATGGATGAAGTAGGTAGGATAGGCCAGCCTTATCCATTTTTTCCCATGTTATAACTCAGAAAGGTAAGGCTTGGGAAGGAAACGCCTCCCCAGAACCCCCCAGCAGTAATGGCAGAGCAGAGAGGGATGGAGGCTGTCACCTGCCTGCCTCGCGGGGCGGTCTGGAAGGGCCGGGTGGCCCACTTACCTCTTTCACAGAGATGCACATGGCCCAGATGAGCACAAACATCCTCCCTAGGAGCTGCAGCCACCCCATCTTGTGCGTCAGGGCCAAGGGGTGCGGGATGGCCTGCAGGGAAAGAAGAGGGGTGGTCAGTATAGGAAGCAAGGAGGACAGGGCTGGCACCAACTCTAGAGGGACCAAAACCCAGGTGAAACACTCAAGCCGGGCCAGAGACCAGCATGAAACCTGATCTCTGTACAGGGCAAGAGAAGGAAGAGCAGCTCCCTGACCCCAACTCTCCTCACCCTTGATGGAAACCCAGAACTCTACAACGAAGAATATCATCCAATCCGTGCTAACAACCCTCACACTCCATTGCAATAGCCTTTCCGGAACCCATCCATATCCAGGCACTCAACATGGCCTCACAGCACCGTTAAATAAAGCCGAGGCTCTGTGCCCCACGTGACGCATGGGAAACCGAAGCCCAGCAGGCAGGGAGAGCTTATCCTCCTCCCGTTTCCTGCAGCCCTCACAGCAGAAACACCCAGCTAGTTCTATATTTACAGACAGAGACCCTGTGCAGGGCCTGAGTCTCCGAATTCTCCAACTTTCCTCCCAGCAAGGGTCTGCCCTTGGGACTCGGCACCTGGGGCTTAGCCCAGGCTAAGCACTGAAGACATATTCAGTTCCCTGGGAAGCGTGAAGGACAACTGGGGGACCCCGCCCAATCTCCTGGTCTCTCTGGGCCTCAGTTTTCCCACCTGCACGTGGGGCAGCTCCAAGCCCCTCCAGCTCTGACGGCCCCATTTTCCCCCTCCAAGGGGCCCACGTACCTCCTCCTCCCGGGGGCGGTAGTACGAGACGAGGGTCAGGGTGATGTTGTAGAAGAAATAAAAGCAGAAGGACAGAAAGAACATGTGCTTGGCAAACTTCTTCCACTTCATATGCAGCAGCGTGTGCAGCGGCTCCAGGGTCAGCATCTCATGCCAGTTCTAGGGGTAGAATGCCACCAGTCACCATGGAGATGAGGGAGAGAGGGAGGGACCGTTTTCTAAAGGCCTGCGGGAGCTCTGAGTCAGTGCTGCAGAAGGGGCCCATCATTATGCCCGATGGACTGGTCTGGTTGGAAATGCTGGGAGGGTGATTTCCGGCTCCTGAGGCTCCTCCCCAGGGTACTAGGGCAGCAGTCAGAGGCCGCAGGAGCCCGGGCTTGCAGCAGGAGGACCCGATGCACAGCAGAAAGTGGAGGATAGAAGCGGGCAGGAGGTGGTGGCAGGGGTTCCAGCCCCAGTTTGCTCCTCCTTTGCTGTGTGACTTTAGGACAGACCCTGACCCTCTCTGGGCCTCAGACTCCTCACCTATAAAACTGCTAACAATCCCTGCCCTACCAACCAGGCTGCTGTGAGGGTCTGGGAAGACCCAAGGCAAGGGGACTCTGGGAAGCATGACTCTTAGTAAAGTATGAAGGAGGAAGACCCAGCCTGCTGCCTCACTGCCCCCAAGAGCTGAACACCTCTCATAGCTGCTCCTCTCTTCACCTCCAGTTGCACCGAACTCTCCCCTCTAGCCTCCTCCAGGAAGGCCCCCCGATTGCTCCTCAGTGCACTCTCTGACCCTCATTTGGGACCAGGTTTTGGGGAAGAAAGAATTCTAAGCCTGGCCGTATACACCAACGGGGGGTGGGAGAGAAACAATATGGAAAGGATCAACCCCAATCACCCCATCACCCACACCCACACCCAAACAGCCCTGGATACTCGGTCCAGAAGACCTCCCGCCCACCGCCCCCGCCACCACCACTCAGGTCTACAGTCCAAGGTCAATCAGGAAGAGTCGGGCCCAGCATCTGTCCCAGGCCTCGCCTTTTCTGTGCCTGACTCTGCTCACTGAGGCAACAGAGTGGGGTATGCAGATGCCGAGGGATGGAGCTGGCAGCACTGGGTCTTCCCAGCGTCCTCTCAGCCCCTGGCCTGAGGTCCAGCCCTCTTCTCCCTGCCCTTCCCCGCCTGTGCAGGAGACCCACGTCGATGTTGGTGTTGTAGACAGTGATTTCCAGCACTGAGTTGTCCGTGGTGGTGTCCACGTTGGTGAGGTCGTAGAGGGAGGATGACACGGGTCCGTACGCCCAGTCGGTGAACTTCCTGGACAGGCTCCGGAGCCGCTTCTCCTTGATCTCACGACTGAGGATGTACTTCAGGATCTGGGACAGGAGGAGGAACAACCATCAGCTGCAGAACAGGGGCTTAAGGCCAACAGGGCTGGACCAGCCAGAGGCTGGCTGGGCCCAGGGGATACACCCGCCCAGAATGGGTGGAGACCTGCCTCTGCGCCTGGCGCCATGGCCCCTGGGCCCCGTCTTTATCTGTGGAATGCGCACAAAGCTTGCTGTTCCGCCCATCTCACTGGGGGTTGTGAATACCAGGGACAAAGGGTGTGAAGGTTCTTCGCAGGCTGCAGCAAGCTGCACAATCAGCTTGAAATGCCTCACGCCAGCTGGGGACCCGGTTCGGTGAAAAATCCAGGCACTGATGATTTTTTAGAAACAGTTTCCATTTGCTCTGGACTTGAGAAGAAGCCAGAAGTGTTCTCAGCGTCCCCAGCCCACCCTAAGCCAAGACTCCTCCAGCTGTGGCTCACCACTCTGGCCAGGCAGGTGGTGACGAGAGACACCACGCCCTACAGGGAGGCCCGTGGGACTTCGGTAGGCCAGTGATCCTCAAACTCTGCTGCATGTTAGGGCTGCTGGGAAACTTAGAAATTCCCACAGCATGGCCAGGTGCAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGGAATCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTAACCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTCGCTTGAACCTGGGAGGTGGAGGTTGCCGTGAGCCATGATTGCGCCACTGCACTCCAGCCTGGGCAATGA
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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?
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Pathogenic; Ocular cystinosis
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TCAGGAGATACTTCATTTCTATCTTGTAGCTTTCACAAGCCACTAGTTGTATGTAATTATCAATCTGGTTTTTTTTTTGTTTTTTTTTTTTAATTTGAGACGGAGTTTCACTCTTATCACTCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGATTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAAGTGATCCAACTGCCTCGGCCTCCCAAAGTGCTGGAATTACACACACGAGCCACTGCGCTCAGCCTAATCTGATGTTTTTTAACATTTTAATTGACTTACCTCTCAATGTCGTTTTGTCTCTGCTGGCATCGTTCCTCCAGGGGTCTCAGCCTTTGAGGCTTGGGAATGTTTGCTGACCAAGTCTGTGAGTTTGAGAAGCTGGTTAGGCCTGATTCTGCATCTAATTTCTGGAGAAAAACCAGACTCTGTCCTGGGCAACAAACTGAATCCTGAACTTGAGGCCACAGGGCAGGTGTGAGGAGCGGAGGGCAGCAAGAGTGAGAGGGAGGCCTGTGGTCATTCCATACACGCAGGAGGGCAATTCCTCCAAGGTCAGGGGACAGAGCACAGGGATCCAGCGCCAAGAGCAAGGCCCCCAGAGGAGGCCAGAGAGTAGGTACGGGGTCATTCCCGGCCGGTGAGAAGGGTCTCAGATGAGGCAGACCTGCAGCAGGCAAAGAGAGAACCCTGGAGGAGACGGGCCAACAGAGGTCAGACAGCTGGAGCAGCCAGGGAGACTTCTTGAGGAGTGTGTAAGGGAGATGTCCGGAGATGCTGGAGGCCTTGGGGAAACTGAAATCAGAGTGGGAACAGGGATGTCTCCACACAGACCTTACCCAGAGCTCCCCACAGTCTGCAGGAGGCCCGTGAGACTGTGTACTGAGGCAGCACGGAGACCAAGCTACAGAAATCCATGCCGGCCTGGCTGCTCTTGACCCACTGTTCACCTGCTGTGTCTTGGGTTTACAGGAATGCAGCTCCCCATCTTCCACACTAAACCAAGGACTTGCTCTGGGGCTCATCCCTCCCCGAGTCCTCCTTGTGAATGACCCCAGCCAGTCCTGGAATGGTGACACTTGTCAAATAAAGTCTTGACAGGCGCGGTGGCTCCTACCTGTAACCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACTCGAGGTCAGGAGTTTGAGACCAGGCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAGTTAGCCGGGCATGGTGGGGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATTGCTTGAACCCAGGGGGTGGAGGTTTCAGTGAACAGAGTTCGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAATTTAAATATGTATATTAAAAAAAAATGTTTTTTTAAGTCTTAAGGGTCAGTTGGTGTCATCAGCCCTTAGACTCTTATCCCAGGACAGGAAAGGAAATTAATTTCCTTGAGGTTTATAGGTTCACAATGTCAAATATCTGACCACAGTTTTAACAACTTTTGGAGAAAAAGAATCTCAAGCCAGTAAAATTGCATTCTTTCTTTCTGCTAACTAAGTTTTTACAAAAAGCAATTGAAGAGGGAAAAATTCTGGTCTTTGTTCACTTCCTCAGGGGGGCACTTTACACAACCCATTTATCTGCTCGGAGCCCGTTTCCCCTGTATATCAAAGAAAGATAAGTCCTCTCTAGGGTGTCCCTCTGAGGCCGTGATGCAAAGCCCTGAGGTCACAGCTGTCAGGTGGCAGTCCTTTATGAGCCATCCATGCTCCAGAGGGCAGATTGTCTACAGGGAGCTGAGCTGATTCAACATTCCCCTGAACTTCTCTCTTGCTGTTTTTCTTCCTAGTTCTGAGAAATCGAGAAACATGATAAGGAATTGGCTGACTATTTTTATCCTTTTTCCCCTGAAGCTCGTAGAGAAATGTGGTAAGTTTAGAAATGACACGTCAACTTTGTAAAGAGGGAAATGGTGGCTAGAGGAAGGAGTAATCTGATCTGTTTGTTGCCAAGGGTTTAGAATCATTCAGACCACATGTCTCTGTCTGCCTCTTGGCCATGTGGCCACTGGGGTGGTGGAGCAGACCCAGGTCTGGGATCCAGGTGTTCTGCAAAGAGCCAGATAGTTCCACATATAATTGGCCTTCTGCCCTGGTATCTCTGTACCTTTCTGTACCAAAGTGAACAGCTGGTTCTTAAGGTCAGACTATGCAGCTGATTCTCAAAGTCAAACGGTAGAGCTCCAACAACCTGGGATAATATCTTAAAGACTGGCTCAGGCTGGAGCAGTGGCTCACGCCTATAATTCCAGAGCTTTGGGAGGCCAAGGCAGGAAGATCTCTTGAGGCCAGGAGTTTGAGACCAACCTGGGCAACGTAGTGAAACCCCATGTCTACTAAAAAATAATTTTTAAAAATTAGCCATATGCAGTGGCTCGTGCCTATAGTCCTAGCTACTTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCCCAGGAAGTCAAGGCTACAGTGAGTTATGATCACACTACTGCACTCCGGCCTGGGCAACAGAGTTGAGACCCTGACTTTAAAAGAAAAAAAAGAAGAATGGCTTATGCCTCTGCCCTGTGGACCTCACAGAGAGAGTCTTGGGTCCTGGGAAACACTGGGGAAGCAGAAGAGGTAGCCACCCTGTTGTACCCGGTTCTGCCAGGCACAGATCACCTGAGGAGTCTGCCCAGCATCCCCTTGTAAGATGAGAAAACCTGTCCCTTAGAGAGGGGCTGAGGAACAGGGTGCAACAGCCCAGCAGGGCTAGGGGTCAGTTGGAACACAGGCTGGGATGGAGTTTACACGTCCTTGTAGGAGGAATGACCTTCAGTGCAGGCCTCTTTGAGGCCCGTGCCCTTCTAGCAATTCTCCCACTGCCCAAAACATCTCTGGAATTCCTTCCATAAAGAGCCATGTTTAGCACTTCAAAGGTGCCAGGCCCATTCATTTGATCCTCAGCTTGCCTCTTGGGTCAAATACAAAAATCAGATACATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCTGAGGCTGGTGTGCAGTGGCACGATCTCAGCCCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCACCCGCAACTACGCCCAGCTAGTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTTTTGAGCTCCTGACCTCGTGGCTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCCAGATACCTTAAATTCCCATTTCAAGTGAACCTTGACAAACAATACAAATCCTGCAGAGGTTTCCCCAGAGCCTAGCACCATTGCCGTTATCTGGCCTCTTGCATCTCTGAGGAAACATGGTCACGTGATCATCTCTTCCAGGTTTGTTAAACAATCAGTAATGTTTGTAGTCACACTTTGTGGATAAGCAATTTCCGGGAAAGGCAGGTCTTTCAGACCCTGGAACCTGGTGTTTCTTAATACAGACGTCAGAACCCTGTCCCCACCCTGTAGGATCAGACTTTGTAAGACTGAGGCTGGAGCATGTGCGTGTGCCTGGGAGTGTGCGCGCGCGTGTATTTGCCTGGGCCTGTGTGTGTGTGTGTACCCGGGCGTGTGTGTGTGTGTGTGTGCCTGGGCGTGTGTGTGTGTGCCTGGGTGTGTGTCTGCGTGCATGTATGTGTGCCCGGGCGTGTGTGTGTGTGTGTGTGTGTGCCCAGTCGCTCATACATACTCTTTAAAGCCCCATTAGTAATGCTAACACGCTCCCCTAGGAGAAAAACAAAAAATCCAGCTACCACCAC
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TCAGGAGATACTTCATTTCTATCTTGTAGCTTTCACAAGCCACTAGTTGTATGTAATTATCAATCTGGTTTTTTTTTTGTTTTTTTTTTTTAATTTGAGACGGAGTTTCACTCTTATCACTCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGATTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAAGTGATCCAACTGCCTCGGCCTCCCAAAGTGCTGGAATTACACACACGAGCCACTGCGCTCAGCCTAATCTGATGTTTTTTAACATTTTAATTGACTTACCTCTCAATGTCGTTTTGTCTCTGCTGGCATCGTTCCTCCAGGGGTCTCAGCCTTTGAGGCTTGGGAATGTTTGCTGACCAAGTCTGTGAGTTTGAGAAGCTGGTTAGGCCTGATTCTGCATCTAATTTCTGGAGAAAAACCAGACTCTGTCCTGGGCAACAAACTGAATCCTGAACTTGAGGCCACAGGGCAGGTGTGAGGAGCGGAGGGCAGCAAGAGTGAGAGGGAGGCCTGTGGTCATTCCATACACGCAGGAGGGCAATTCCTCCAAGGTCAGGGGACAGAGCACAGGGATCCAGCGCCAAGAGCAAGGCCCCCAGAGGAGGCCAGAGAGTAGGTACGGGGTCATTCCCGGCCGGTGAGAAGGGTCTCAGATGAGGCAGACCTGCAGCAGGCAAAGAGAGAACCCTGGAGGAGACGGGCCAACAGAGGTCAGACAGCTGGAGCAGCCAGGGAGACTTCTTGAGGAGTGTGTAAGGGAGATGTCCGGAGATGCTGGAGGCCTTGGGGAAACTGAAATCAGAGTGGGAACAGGGATGTCTCCACACAGACCTTACCCAGAGCTCCCCACAGTCTGCAGGAGGCCCGTGAGACTGTGTACTGAGGCAGCACGGAGACCAAGCTACAGAAATCCATGCCGGCCTGGCTGCTCTTGACCCACTGTTCACCTGCTGTGTCTTGGGTTTACAGGAATGCAGCTCCCCATCTTCCACACTAAACCAAGGACTTGCTCTGGGGCTCATCCCTCCCCGAGTCCTCCTTGTGAATGACCCCAGCCAGTCCTGGAATGGTGACACTTGTCAAATAAAGTCTTGACAGGCGCGGTGGCTCCTACCTGTAACCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACTCGAGGTCAGGAGTTTGAGACCAGGCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAGTTAGCCGGGCATGGTGGGGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATTGCTTGAACCCAGGGGGTGGAGGTTTCAGTGAACAGAGTTCGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAATTTAAATATGTATATTAAAAAAAAATGTTTTTTTAAGTCTTAAGGGTCAGTTGGTGTCATCAGCCCTTAGACTCTTATCCCAGGACAGGAAAGGAAATTAATTTCCTTGAGGTTTATAGGTTCACAATGTCAAATATCTGACCACAGTTTTAACAACTTTTGGAGAAAAAGAATCTCAAGCCAGTAAAATTGCATTCTTTCTTTCTGCTAACTAAGTTTTTACAAAAAGCAATTGAAGAGGGAAAAATTCTGGTCTTTGTTCACTTCCTCAGGGGGGCACTTTACACAACCCATTTATCTGCTCGGAGCCCGTTTCCCCTGTATATCAAAGAAAGATAAGTCCTCTCTAGGGTGTCCCTCTGAGGCCGTGATGCAAAGCCCTGAGGTCACAGCTGTCAGGTGGCAGTCCTTTATGAGCCATCCATGCTCCAGAGGGCAGATTGTCTACAGGGAGCTGAGCTGATTCAACATTCCCCTGAACTTCTCTCTTGCTGTTTTTCTTCCTAGTTCTGAGAAATCGAGAAACTTGATAAGGAATTGGCTGACTATTTTTATCCTTTTTCCCCTGAAGCTCGTAGAGAAATGTGGTAAGTTTAGAAATGACACGTCAACTTTGTAAAGAGGGAAATGGTGGCTAGAGGAAGGAGTAATCTGATCTGTTTGTTGCCAAGGGTTTAGAATCATTCAGACCACATGTCTCTGTCTGCCTCTTGGCCATGTGGCCACTGGGGTGGTGGAGCAGACCCAGGTCTGGGATCCAGGTGTTCTGCAAAGAGCCAGATAGTTCCACATATAATTGGCCTTCTGCCCTGGTATCTCTGTACCTTTCTGTACCAAAGTGAACAGCTGGTTCTTAAGGTCAGACTATGCAGCTGATTCTCAAAGTCAAACGGTAGAGCTCCAACAACCTGGGATAATATCTTAAAGACTGGCTCAGGCTGGAGCAGTGGCTCACGCCTATAATTCCAGAGCTTTGGGAGGCCAAGGCAGGAAGATCTCTTGAGGCCAGGAGTTTGAGACCAACCTGGGCAACGTAGTGAAACCCCATGTCTACTAAAAAATAATTTTTAAAAATTAGCCATATGCAGTGGCTCGTGCCTATAGTCCTAGCTACTTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCCCAGGAAGTCAAGGCTACAGTGAGTTATGATCACACTACTGCACTCCGGCCTGGGCAACAGAGTTGAGACCCTGACTTTAAAAGAAAAAAAAGAAGAATGGCTTATGCCTCTGCCCTGTGGACCTCACAGAGAGAGTCTTGGGTCCTGGGAAACACTGGGGAAGCAGAAGAGGTAGCCACCCTGTTGTACCCGGTTCTGCCAGGCACAGATCACCTGAGGAGTCTGCCCAGCATCCCCTTGTAAGATGAGAAAACCTGTCCCTTAGAGAGGGGCTGAGGAACAGGGTGCAACAGCCCAGCAGGGCTAGGGGTCAGTTGGAACACAGGCTGGGATGGAGTTTACACGTCCTTGTAGGAGGAATGACCTTCAGTGCAGGCCTCTTTGAGGCCCGTGCCCTTCTAGCAATTCTCCCACTGCCCAAAACATCTCTGGAATTCCTTCCATAAAGAGCCATGTTTAGCACTTCAAAGGTGCCAGGCCCATTCATTTGATCCTCAGCTTGCCTCTTGGGTCAAATACAAAAATCAGATACATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCTGAGGCTGGTGTGCAGTGGCACGATCTCAGCCCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCACCCGCAACTACGCCCAGCTAGTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTTTTGAGCTCCTGACCTCGTGGCTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCCAGATACCTTAAATTCCCATTTCAAGTGAACCTTGACAAACAATACAAATCCTGCAGAGGTTTCCCCAGAGCCTAGCACCATTGCCGTTATCTGGCCTCTTGCATCTCTGAGGAAACATGGTCACGTGATCATCTCTTCCAGGTTTGTTAAACAATCAGTAATGTTTGTAGTCACACTTTGTGGATAAGCAATTTCCGGGAAAGGCAGGTCTTTCAGACCCTGGAACCTGGTGTTTCTTAATACAGACGTCAGAACCCTGTCCCCACCCTGTAGGATCAGACTTTGTAAGACTGAGGCTGGAGCATGTGCGTGTGCCTGGGAGTGTGCGCGCGCGTGTATTTGCCTGGGCCTGTGTGTGTGTGTGTACCCGGGCGTGTGTGTGTGTGTGTGTGCCTGGGCGTGTGTGTGTGTGCCTGGGTGTGTGTCTGCGTGCATGTATGTGTGCCCGGGCGTGTGTGTGTGTGTGTGTGTGTGCCCAGTCGCTCATACATACTCTTTAAAGCCCCATTAGTAATGCTAACACGCTCCCCTAGGAGAAAAACAAAAAATCCAGCTACCACCAC
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Task1_train_23229
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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?
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Pathogenic; Juvenile nephropathic cystinosis
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TCAGGAGATACTTCATTTCTATCTTGTAGCTTTCACAAGCCACTAGTTGTATGTAATTATCAATCTGGTTTTTTTTTTGTTTTTTTTTTTTAATTTGAGACGGAGTTTCACTCTTATCACTCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGATTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAAGTGATCCAACTGCCTCGGCCTCCCAAAGTGCTGGAATTACACACACGAGCCACTGCGCTCAGCCTAATCTGATGTTTTTTAACATTTTAATTGACTTACCTCTCAATGTCGTTTTGTCTCTGCTGGCATCGTTCCTCCAGGGGTCTCAGCCTTTGAGGCTTGGGAATGTTTGCTGACCAAGTCTGTGAGTTTGAGAAGCTGGTTAGGCCTGATTCTGCATCTAATTTCTGGAGAAAAACCAGACTCTGTCCTGGGCAACAAACTGAATCCTGAACTTGAGGCCACAGGGCAGGTGTGAGGAGCGGAGGGCAGCAAGAGTGAGAGGGAGGCCTGTGGTCATTCCATACACGCAGGAGGGCAATTCCTCCAAGGTCAGGGGACAGAGCACAGGGATCCAGCGCCAAGAGCAAGGCCCCCAGAGGAGGCCAGAGAGTAGGTACGGGGTCATTCCCGGCCGGTGAGAAGGGTCTCAGATGAGGCAGACCTGCAGCAGGCAAAGAGAGAACCCTGGAGGAGACGGGCCAACAGAGGTCAGACAGCTGGAGCAGCCAGGGAGACTTCTTGAGGAGTGTGTAAGGGAGATGTCCGGAGATGCTGGAGGCCTTGGGGAAACTGAAATCAGAGTGGGAACAGGGATGTCTCCACACAGACCTTACCCAGAGCTCCCCACAGTCTGCAGGAGGCCCGTGAGACTGTGTACTGAGGCAGCACGGAGACCAAGCTACAGAAATCCATGCCGGCCTGGCTGCTCTTGACCCACTGTTCACCTGCTGTGTCTTGGGTTTACAGGAATGCAGCTCCCCATCTTCCACACTAAACCAAGGACTTGCTCTGGGGCTCATCCCTCCCCGAGTCCTCCTTGTGAATGACCCCAGCCAGTCCTGGAATGGTGACACTTGTCAAATAAAGTCTTGACAGGCGCGGTGGCTCCTACCTGTAACCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACTCGAGGTCAGGAGTTTGAGACCAGGCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAGTTAGCCGGGCATGGTGGGGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATTGCTTGAACCCAGGGGGTGGAGGTTTCAGTGAACAGAGTTCGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAATTTAAATATGTATATTAAAAAAAAATGTTTTTTTAAGTCTTAAGGGTCAGTTGGTGTCATCAGCCCTTAGACTCTTATCCCAGGACAGGAAAGGAAATTAATTTCCTTGAGGTTTATAGGTTCACAATGTCAAATATCTGACCACAGTTTTAACAACTTTTGGAGAAAAAGAATCTCAAGCCAGTAAAATTGCATTCTTTCTTTCTGCTAACTAAGTTTTTACAAAAAGCAATTGAAGAGGGAAAAATTCTGGTCTTTGTTCACTTCCTCAGGGGGGCACTTTACACAACCCATTTATCTGCTCGGAGCCCGTTTCCCCTGTATATCAAAGAAAGATAAGTCCTCTCTAGGGTGTCCCTCTGAGGCCGTGATGCAAAGCCCTGAGGTCACAGCTGTCAGGTGGCAGTCCTTTATGAGCCATCCATGCTCCAGAGGGCAGATTGTCTACAGGGAGCTGAGCTGATTCAACATTCCCCTGAACTTCTCTCTTGCTGTTTTTCTTCCTAGTTCTGAGAAATCGAGAAACATGATAAGGAATTGGCTGACTATTTTTATCCTTTTTCCCCTGAAGCTCGTAGAGAAATGTGGTAAGTTTAGAAATGACACGTCAACTTTGTAAAGAGGGAAATGGTGGCTAGAGGAAGGAGTAATCTGATCTGTTTGTTGCCAAGGGTTTAGAATCATTCAGACCACATGTCTCTGTCTGCCTCTTGGCCATGTGGCCACTGGGGTGGTGGAGCAGACCCAGGTCTGGGATCCAGGTGTTCTGCAAAGAGCCAGATAGTTCCACATATAATTGGCCTTCTGCCCTGGTATCTCTGTACCTTTCTGTACCAAAGTGAACAGCTGGTTCTTAAGGTCAGACTATGCAGCTGATTCTCAAAGTCAAACGGTAGAGCTCCAACAACCTGGGATAATATCTTAAAGACTGGCTCAGGCTGGAGCAGTGGCTCACGCCTATAATTCCAGAGCTTTGGGAGGCCAAGGCAGGAAGATCTCTTGAGGCCAGGAGTTTGAGACCAACCTGGGCAACGTAGTGAAACCCCATGTCTACTAAAAAATAATTTTTAAAAATTAGCCATATGCAGTGGCTCGTGCCTATAGTCCTAGCTACTTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCCCAGGAAGTCAAGGCTACAGTGAGTTATGATCACACTACTGCACTCCGGCCTGGGCAACAGAGTTGAGACCCTGACTTTAAAAGAAAAAAAAGAAGAATGGCTTATGCCTCTGCCCTGTGGACCTCACAGAGAGAGTCTTGGGTCCTGGGAAACACTGGGGAAGCAGAAGAGGTAGCCACCCTGTTGTACCCGGTTCTGCCAGGCACAGATCACCTGAGGAGTCTGCCCAGCATCCCCTTGTAAGATGAGAAAACCTGTCCCTTAGAGAGGGGCTGAGGAACAGGGTGCAACAGCCCAGCAGGGCTAGGGGTCAGTTGGAACACAGGCTGGGATGGAGTTTACACGTCCTTGTAGGAGGAATGACCTTCAGTGCAGGCCTCTTTGAGGCCCGTGCCCTTCTAGCAATTCTCCCACTGCCCAAAACATCTCTGGAATTCCTTCCATAAAGAGCCATGTTTAGCACTTCAAAGGTGCCAGGCCCATTCATTTGATCCTCAGCTTGCCTCTTGGGTCAAATACAAAAATCAGATACATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCTGAGGCTGGTGTGCAGTGGCACGATCTCAGCCCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCACCCGCAACTACGCCCAGCTAGTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTTTTGAGCTCCTGACCTCGTGGCTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCCAGATACCTTAAATTCCCATTTCAAGTGAACCTTGACAAACAATACAAATCCTGCAGAGGTTTCCCCAGAGCCTAGCACCATTGCCGTTATCTGGCCTCTTGCATCTCTGAGGAAACATGGTCACGTGATCATCTCTTCCAGGTTTGTTAAACAATCAGTAATGTTTGTAGTCACACTTTGTGGATAAGCAATTTCCGGGAAAGGCAGGTCTTTCAGACCCTGGAACCTGGTGTTTCTTAATACAGACGTCAGAACCCTGTCCCCACCCTGTAGGATCAGACTTTGTAAGACTGAGGCTGGAGCATGTGCGTGTGCCTGGGAGTGTGCGCGCGCGTGTATTTGCCTGGGCCTGTGTGTGTGTGTGTACCCGGGCGTGTGTGTGTGTGTGTGTGCCTGGGCGTGTGTGTGTGTGCCTGGGTGTGTGTCTGCGTGCATGTATGTGTGCCCGGGCGTGTGTGTGTGTGTGTGTGTGTGCCCAGTCGCTCATACATACTCTTTAAAGCCCCATTAGTAATGCTAACACGCTCCCCTAGGAGAAAAACAAAAAATCCAGCTACCACCAC
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TCAGGAGATACTTCATTTCTATCTTGTAGCTTTCACAAGCCACTAGTTGTATGTAATTATCAATCTGGTTTTTTTTTTGTTTTTTTTTTTTAATTTGAGACGGAGTTTCACTCTTATCACTCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGATTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAAGTGATCCAACTGCCTCGGCCTCCCAAAGTGCTGGAATTACACACACGAGCCACTGCGCTCAGCCTAATCTGATGTTTTTTAACATTTTAATTGACTTACCTCTCAATGTCGTTTTGTCTCTGCTGGCATCGTTCCTCCAGGGGTCTCAGCCTTTGAGGCTTGGGAATGTTTGCTGACCAAGTCTGTGAGTTTGAGAAGCTGGTTAGGCCTGATTCTGCATCTAATTTCTGGAGAAAAACCAGACTCTGTCCTGGGCAACAAACTGAATCCTGAACTTGAGGCCACAGGGCAGGTGTGAGGAGCGGAGGGCAGCAAGAGTGAGAGGGAGGCCTGTGGTCATTCCATACACGCAGGAGGGCAATTCCTCCAAGGTCAGGGGACAGAGCACAGGGATCCAGCGCCAAGAGCAAGGCCCCCAGAGGAGGCCAGAGAGTAGGTACGGGGTCATTCCCGGCCGGTGAGAAGGGTCTCAGATGAGGCAGACCTGCAGCAGGCAAAGAGAGAACCCTGGAGGAGACGGGCCAACAGAGGTCAGACAGCTGGAGCAGCCAGGGAGACTTCTTGAGGAGTGTGTAAGGGAGATGTCCGGAGATGCTGGAGGCCTTGGGGAAACTGAAATCAGAGTGGGAACAGGGATGTCTCCACACAGACCTTACCCAGAGCTCCCCACAGTCTGCAGGAGGCCCGTGAGACTGTGTACTGAGGCAGCACGGAGACCAAGCTACAGAAATCCATGCCGGCCTGGCTGCTCTTGACCCACTGTTCACCTGCTGTGTCTTGGGTTTACAGGAATGCAGCTCCCCATCTTCCACACTAAACCAAGGACTTGCTCTGGGGCTCATCCCTCCCCGAGTCCTCCTTGTGAATGACCCCAGCCAGTCCTGGAATGGTGACACTTGTCAAATAAAGTCTTGACAGGCGCGGTGGCTCCTACCTGTAACCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACTCGAGGTCAGGAGTTTGAGACCAGGCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAGTTAGCCGGGCATGGTGGGGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATTGCTTGAACCCAGGGGGTGGAGGTTTCAGTGAACAGAGTTCGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAATTTAAATATGTATATTAAAAAAAAATGTTTTTTTAAGTCTTAAGGGTCAGTTGGTGTCATCAGCCCTTAGACTCTTATCCCAGGACAGGAAAGGAAATTAATTTCCTTGAGGTTTATAGGTTCACAATGTCAAATATCTGACCACAGTTTTAACAACTTTTGGAGAAAAAGAATCTCAAGCCAGTAAAATTGCATTCTTTCTTTCTGCTAACTAAGTTTTTACAAAAAGCAATTGAAGAGGGAAAAATTCTGGTCTTTGTTCACTTCCTCAGGGGGGCACTTTACACAACCCATTTATCTGCTCGGAGCCCGTTTCCCCTGTATATCAAAGAAAGATAAGTCCTCTCTAGGGTGTCCCTCTGAGGCCGTGATGCAAAGCCCTGAGGTCACAGCTGTCAGGTGGCAGTCCTTTATGAGCCATCCATGCTCCAGAGGGCAGATTGTCTACAGGGAGCTGAGCTGATTCAACATTCCCCTGAACTTCTCTCTTGCTGTTTTTCTTCCTAGTTCTGAGAAATCGAGAAACTTGATAAGGAATTGGCTGACTATTTTTATCCTTTTTCCCCTGAAGCTCGTAGAGAAATGTGGTAAGTTTAGAAATGACACGTCAACTTTGTAAAGAGGGAAATGGTGGCTAGAGGAAGGAGTAATCTGATCTGTTTGTTGCCAAGGGTTTAGAATCATTCAGACCACATGTCTCTGTCTGCCTCTTGGCCATGTGGCCACTGGGGTGGTGGAGCAGACCCAGGTCTGGGATCCAGGTGTTCTGCAAAGAGCCAGATAGTTCCACATATAATTGGCCTTCTGCCCTGGTATCTCTGTACCTTTCTGTACCAAAGTGAACAGCTGGTTCTTAAGGTCAGACTATGCAGCTGATTCTCAAAGTCAAACGGTAGAGCTCCAACAACCTGGGATAATATCTTAAAGACTGGCTCAGGCTGGAGCAGTGGCTCACGCCTATAATTCCAGAGCTTTGGGAGGCCAAGGCAGGAAGATCTCTTGAGGCCAGGAGTTTGAGACCAACCTGGGCAACGTAGTGAAACCCCATGTCTACTAAAAAATAATTTTTAAAAATTAGCCATATGCAGTGGCTCGTGCCTATAGTCCTAGCTACTTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCCCAGGAAGTCAAGGCTACAGTGAGTTATGATCACACTACTGCACTCCGGCCTGGGCAACAGAGTTGAGACCCTGACTTTAAAAGAAAAAAAAGAAGAATGGCTTATGCCTCTGCCCTGTGGACCTCACAGAGAGAGTCTTGGGTCCTGGGAAACACTGGGGAAGCAGAAGAGGTAGCCACCCTGTTGTACCCGGTTCTGCCAGGCACAGATCACCTGAGGAGTCTGCCCAGCATCCCCTTGTAAGATGAGAAAACCTGTCCCTTAGAGAGGGGCTGAGGAACAGGGTGCAACAGCCCAGCAGGGCTAGGGGTCAGTTGGAACACAGGCTGGGATGGAGTTTACACGTCCTTGTAGGAGGAATGACCTTCAGTGCAGGCCTCTTTGAGGCCCGTGCCCTTCTAGCAATTCTCCCACTGCCCAAAACATCTCTGGAATTCCTTCCATAAAGAGCCATGTTTAGCACTTCAAAGGTGCCAGGCCCATTCATTTGATCCTCAGCTTGCCTCTTGGGTCAAATACAAAAATCAGATACATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCTGAGGCTGGTGTGCAGTGGCACGATCTCAGCCCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCACCCGCAACTACGCCCAGCTAGTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTTTTGAGCTCCTGACCTCGTGGCTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCCAGATACCTTAAATTCCCATTTCAAGTGAACCTTGACAAACAATACAAATCCTGCAGAGGTTTCCCCAGAGCCTAGCACCATTGCCGTTATCTGGCCTCTTGCATCTCTGAGGAAACATGGTCACGTGATCATCTCTTCCAGGTTTGTTAAACAATCAGTAATGTTTGTAGTCACACTTTGTGGATAAGCAATTTCCGGGAAAGGCAGGTCTTTCAGACCCTGGAACCTGGTGTTTCTTAATACAGACGTCAGAACCCTGTCCCCACCCTGTAGGATCAGACTTTGTAAGACTGAGGCTGGAGCATGTGCGTGTGCCTGGGAGTGTGCGCGCGCGTGTATTTGCCTGGGCCTGTGTGTGTGTGTGTACCCGGGCGTGTGTGTGTGTGTGTGTGCCTGGGCGTGTGTGTGTGTGCCTGGGTGTGTGTCTGCGTGCATGTATGTGTGCCCGGGCGTGTGTGTGTGTGTGTGTGTGTGCCCAGTCGCTCATACATACTCTTTAAAGCCCCATTAGTAATGCTAACACGCTCCCCTAGGAGAAAAACAAAAAATCCAGCTACCACCAC
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Task1_train_23230
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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?
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Pathogenic; Inborn genetic diseases
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TCAGGAGATACTTCATTTCTATCTTGTAGCTTTCACAAGCCACTAGTTGTATGTAATTATCAATCTGGTTTTTTTTTTGTTTTTTTTTTTTAATTTGAGACGGAGTTTCACTCTTATCACTCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGATTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAAGTGATCCAACTGCCTCGGCCTCCCAAAGTGCTGGAATTACACACACGAGCCACTGCGCTCAGCCTAATCTGATGTTTTTTAACATTTTAATTGACTTACCTCTCAATGTCGTTTTGTCTCTGCTGGCATCGTTCCTCCAGGGGTCTCAGCCTTTGAGGCTTGGGAATGTTTGCTGACCAAGTCTGTGAGTTTGAGAAGCTGGTTAGGCCTGATTCTGCATCTAATTTCTGGAGAAAAACCAGACTCTGTCCTGGGCAACAAACTGAATCCTGAACTTGAGGCCACAGGGCAGGTGTGAGGAGCGGAGGGCAGCAAGAGTGAGAGGGAGGCCTGTGGTCATTCCATACACGCAGGAGGGCAATTCCTCCAAGGTCAGGGGACAGAGCACAGGGATCCAGCGCCAAGAGCAAGGCCCCCAGAGGAGGCCAGAGAGTAGGTACGGGGTCATTCCCGGCCGGTGAGAAGGGTCTCAGATGAGGCAGACCTGCAGCAGGCAAAGAGAGAACCCTGGAGGAGACGGGCCAACAGAGGTCAGACAGCTGGAGCAGCCAGGGAGACTTCTTGAGGAGTGTGTAAGGGAGATGTCCGGAGATGCTGGAGGCCTTGGGGAAACTGAAATCAGAGTGGGAACAGGGATGTCTCCACACAGACCTTACCCAGAGCTCCCCACAGTCTGCAGGAGGCCCGTGAGACTGTGTACTGAGGCAGCACGGAGACCAAGCTACAGAAATCCATGCCGGCCTGGCTGCTCTTGACCCACTGTTCACCTGCTGTGTCTTGGGTTTACAGGAATGCAGCTCCCCATCTTCCACACTAAACCAAGGACTTGCTCTGGGGCTCATCCCTCCCCGAGTCCTCCTTGTGAATGACCCCAGCCAGTCCTGGAATGGTGACACTTGTCAAATAAAGTCTTGACAGGCGCGGTGGCTCCTACCTGTAACCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACTCGAGGTCAGGAGTTTGAGACCAGGCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAGTTAGCCGGGCATGGTGGGGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATTGCTTGAACCCAGGGGGTGGAGGTTTCAGTGAACAGAGTTCGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAATTTAAATATGTATATTAAAAAAAAATGTTTTTTTAAGTCTTAAGGGTCAGTTGGTGTCATCAGCCCTTAGACTCTTATCCCAGGACAGGAAAGGAAATTAATTTCCTTGAGGTTTATAGGTTCACAATGTCAAATATCTGACCACAGTTTTAACAACTTTTGGAGAAAAAGAATCTCAAGCCAGTAAAATTGCATTCTTTCTTTCTGCTAACTAAGTTTTTACAAAAAGCAATTGAAGAGGGAAAAATTCTGGTCTTTGTTCACTTCCTCAGGGGGGCACTTTACACAACCCATTTATCTGCTCGGAGCCCGTTTCCCCTGTATATCAAAGAAAGATAAGTCCTCTCTAGGGTGTCCCTCTGAGGCCGTGATGCAAAGCCCTGAGGTCACAGCTGTCAGGTGGCAGTCCTTTATGAGCCATCCATGCTCCAGAGGGCAGATTGTCTACAGGGAGCTGAGCTGATTCAACATTCCCCTGAACTTCTCTCTTGCTGTTTTTCTTCCTAGTTCTGAGAAATCGAGAAACATGATAAGGAATTGGCTGACTATTTTTATCCTTTTTCCCCTGAAGCTCGTAGAGAAATGTGGTAAGTTTAGAAATGACACGTCAACTTTGTAAAGAGGGAAATGGTGGCTAGAGGAAGGAGTAATCTGATCTGTTTGTTGCCAAGGGTTTAGAATCATTCAGACCACATGTCTCTGTCTGCCTCTTGGCCATGTGGCCACTGGGGTGGTGGAGCAGACCCAGGTCTGGGATCCAGGTGTTCTGCAAAGAGCCAGATAGTTCCACATATAATTGGCCTTCTGCCCTGGTATCTCTGTACCTTTCTGTACCAAAGTGAACAGCTGGTTCTTAAGGTCAGACTATGCAGCTGATTCTCAAAGTCAAACGGTAGAGCTCCAACAACCTGGGATAATATCTTAAAGACTGGCTCAGGCTGGAGCAGTGGCTCACGCCTATAATTCCAGAGCTTTGGGAGGCCAAGGCAGGAAGATCTCTTGAGGCCAGGAGTTTGAGACCAACCTGGGCAACGTAGTGAAACCCCATGTCTACTAAAAAATAATTTTTAAAAATTAGCCATATGCAGTGGCTCGTGCCTATAGTCCTAGCTACTTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCCCAGGAAGTCAAGGCTACAGTGAGTTATGATCACACTACTGCACTCCGGCCTGGGCAACAGAGTTGAGACCCTGACTTTAAAAGAAAAAAAAGAAGAATGGCTTATGCCTCTGCCCTGTGGACCTCACAGAGAGAGTCTTGGGTCCTGGGAAACACTGGGGAAGCAGAAGAGGTAGCCACCCTGTTGTACCCGGTTCTGCCAGGCACAGATCACCTGAGGAGTCTGCCCAGCATCCCCTTGTAAGATGAGAAAACCTGTCCCTTAGAGAGGGGCTGAGGAACAGGGTGCAACAGCCCAGCAGGGCTAGGGGTCAGTTGGAACACAGGCTGGGATGGAGTTTACACGTCCTTGTAGGAGGAATGACCTTCAGTGCAGGCCTCTTTGAGGCCCGTGCCCTTCTAGCAATTCTCCCACTGCCCAAAACATCTCTGGAATTCCTTCCATAAAGAGCCATGTTTAGCACTTCAAAGGTGCCAGGCCCATTCATTTGATCCTCAGCTTGCCTCTTGGGTCAAATACAAAAATCAGATACATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCTGAGGCTGGTGTGCAGTGGCACGATCTCAGCCCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCACCCGCAACTACGCCCAGCTAGTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTTTTGAGCTCCTGACCTCGTGGCTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCCAGATACCTTAAATTCCCATTTCAAGTGAACCTTGACAAACAATACAAATCCTGCAGAGGTTTCCCCAGAGCCTAGCACCATTGCCGTTATCTGGCCTCTTGCATCTCTGAGGAAACATGGTCACGTGATCATCTCTTCCAGGTTTGTTAAACAATCAGTAATGTTTGTAGTCACACTTTGTGGATAAGCAATTTCCGGGAAAGGCAGGTCTTTCAGACCCTGGAACCTGGTGTTTCTTAATACAGACGTCAGAACCCTGTCCCCACCCTGTAGGATCAGACTTTGTAAGACTGAGGCTGGAGCATGTGCGTGTGCCTGGGAGTGTGCGCGCGCGTGTATTTGCCTGGGCCTGTGTGTGTGTGTGTACCCGGGCGTGTGTGTGTGTGTGTGTGCCTGGGCGTGTGTGTGTGTGCCTGGGTGTGTGTCTGCGTGCATGTATGTGTGCCCGGGCGTGTGTGTGTGTGTGTGTGTGTGCCCAGTCGCTCATACATACTCTTTAAAGCCCCATTAGTAATGCTAACACGCTCCCCTAGGAGAAAAACAAAAAATCCAGCTACCACCAC
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TCAGGAGATACTTCATTTCTATCTTGTAGCTTTCACAAGCCACTAGTTGTATGTAATTATCAATCTGGTTTTTTTTTTGTTTTTTTTTTTTAATTTGAGACGGAGTTTCACTCTTATCACTCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGATTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAAGTGATCCAACTGCCTCGGCCTCCCAAAGTGCTGGAATTACACACACGAGCCACTGCGCTCAGCCTAATCTGATGTTTTTTAACATTTTAATTGACTTACCTCTCAATGTCGTTTTGTCTCTGCTGGCATCGTTCCTCCAGGGGTCTCAGCCTTTGAGGCTTGGGAATGTTTGCTGACCAAGTCTGTGAGTTTGAGAAGCTGGTTAGGCCTGATTCTGCATCTAATTTCTGGAGAAAAACCAGACTCTGTCCTGGGCAACAAACTGAATCCTGAACTTGAGGCCACAGGGCAGGTGTGAGGAGCGGAGGGCAGCAAGAGTGAGAGGGAGGCCTGTGGTCATTCCATACACGCAGGAGGGCAATTCCTCCAAGGTCAGGGGACAGAGCACAGGGATCCAGCGCCAAGAGCAAGGCCCCCAGAGGAGGCCAGAGAGTAGGTACGGGGTCATTCCCGGCCGGTGAGAAGGGTCTCAGATGAGGCAGACCTGCAGCAGGCAAAGAGAGAACCCTGGAGGAGACGGGCCAACAGAGGTCAGACAGCTGGAGCAGCCAGGGAGACTTCTTGAGGAGTGTGTAAGGGAGATGTCCGGAGATGCTGGAGGCCTTGGGGAAACTGAAATCAGAGTGGGAACAGGGATGTCTCCACACAGACCTTACCCAGAGCTCCCCACAGTCTGCAGGAGGCCCGTGAGACTGTGTACTGAGGCAGCACGGAGACCAAGCTACAGAAATCCATGCCGGCCTGGCTGCTCTTGACCCACTGTTCACCTGCTGTGTCTTGGGTTTACAGGAATGCAGCTCCCCATCTTCCACACTAAACCAAGGACTTGCTCTGGGGCTCATCCCTCCCCGAGTCCTCCTTGTGAATGACCCCAGCCAGTCCTGGAATGGTGACACTTGTCAAATAAAGTCTTGACAGGCGCGGTGGCTCCTACCTGTAACCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACTCGAGGTCAGGAGTTTGAGACCAGGCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAGTTAGCCGGGCATGGTGGGGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATTGCTTGAACCCAGGGGGTGGAGGTTTCAGTGAACAGAGTTCGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAATTTAAATATGTATATTAAAAAAAAATGTTTTTTTAAGTCTTAAGGGTCAGTTGGTGTCATCAGCCCTTAGACTCTTATCCCAGGACAGGAAAGGAAATTAATTTCCTTGAGGTTTATAGGTTCACAATGTCAAATATCTGACCACAGTTTTAACAACTTTTGGAGAAAAAGAATCTCAAGCCAGTAAAATTGCATTCTTTCTTTCTGCTAACTAAGTTTTTACAAAAAGCAATTGAAGAGGGAAAAATTCTGGTCTTTGTTCACTTCCTCAGGGGGGCACTTTACACAACCCATTTATCTGCTCGGAGCCCGTTTCCCCTGTATATCAAAGAAAGATAAGTCCTCTCTAGGGTGTCCCTCTGAGGCCGTGATGCAAAGCCCTGAGGTCACAGCTGTCAGGTGGCAGTCCTTTATGAGCCATCCATGCTCCAGAGGGCAGATTGTCTACAGGGAGCTGAGCTGATTCAACATTCCCCTGAACTTCTCTCTTGCTGTTTTTCTTCCTAGTTCTGAGAAATCGAGAAACTTGATAAGGAATTGGCTGACTATTTTTATCCTTTTTCCCCTGAAGCTCGTAGAGAAATGTGGTAAGTTTAGAAATGACACGTCAACTTTGTAAAGAGGGAAATGGTGGCTAGAGGAAGGAGTAATCTGATCTGTTTGTTGCCAAGGGTTTAGAATCATTCAGACCACATGTCTCTGTCTGCCTCTTGGCCATGTGGCCACTGGGGTGGTGGAGCAGACCCAGGTCTGGGATCCAGGTGTTCTGCAAAGAGCCAGATAGTTCCACATATAATTGGCCTTCTGCCCTGGTATCTCTGTACCTTTCTGTACCAAAGTGAACAGCTGGTTCTTAAGGTCAGACTATGCAGCTGATTCTCAAAGTCAAACGGTAGAGCTCCAACAACCTGGGATAATATCTTAAAGACTGGCTCAGGCTGGAGCAGTGGCTCACGCCTATAATTCCAGAGCTTTGGGAGGCCAAGGCAGGAAGATCTCTTGAGGCCAGGAGTTTGAGACCAACCTGGGCAACGTAGTGAAACCCCATGTCTACTAAAAAATAATTTTTAAAAATTAGCCATATGCAGTGGCTCGTGCCTATAGTCCTAGCTACTTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCCCAGGAAGTCAAGGCTACAGTGAGTTATGATCACACTACTGCACTCCGGCCTGGGCAACAGAGTTGAGACCCTGACTTTAAAAGAAAAAAAAGAAGAATGGCTTATGCCTCTGCCCTGTGGACCTCACAGAGAGAGTCTTGGGTCCTGGGAAACACTGGGGAAGCAGAAGAGGTAGCCACCCTGTTGTACCCGGTTCTGCCAGGCACAGATCACCTGAGGAGTCTGCCCAGCATCCCCTTGTAAGATGAGAAAACCTGTCCCTTAGAGAGGGGCTGAGGAACAGGGTGCAACAGCCCAGCAGGGCTAGGGGTCAGTTGGAACACAGGCTGGGATGGAGTTTACACGTCCTTGTAGGAGGAATGACCTTCAGTGCAGGCCTCTTTGAGGCCCGTGCCCTTCTAGCAATTCTCCCACTGCCCAAAACATCTCTGGAATTCCTTCCATAAAGAGCCATGTTTAGCACTTCAAAGGTGCCAGGCCCATTCATTTGATCCTCAGCTTGCCTCTTGGGTCAAATACAAAAATCAGATACATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCTGAGGCTGGTGTGCAGTGGCACGATCTCAGCCCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCACCCGCAACTACGCCCAGCTAGTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTTTTGAGCTCCTGACCTCGTGGCTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCCAGATACCTTAAATTCCCATTTCAAGTGAACCTTGACAAACAATACAAATCCTGCAGAGGTTTCCCCAGAGCCTAGCACCATTGCCGTTATCTGGCCTCTTGCATCTCTGAGGAAACATGGTCACGTGATCATCTCTTCCAGGTTTGTTAAACAATCAGTAATGTTTGTAGTCACACTTTGTGGATAAGCAATTTCCGGGAAAGGCAGGTCTTTCAGACCCTGGAACCTGGTGTTTCTTAATACAGACGTCAGAACCCTGTCCCCACCCTGTAGGATCAGACTTTGTAAGACTGAGGCTGGAGCATGTGCGTGTGCCTGGGAGTGTGCGCGCGCGTGTATTTGCCTGGGCCTGTGTGTGTGTGTGTACCCGGGCGTGTGTGTGTGTGTGTGTGCCTGGGCGTGTGTGTGTGTGCCTGGGTGTGTGTCTGCGTGCATGTATGTGTGCCCGGGCGTGTGTGTGTGTGTGTGTGTGTGCCCAGTCGCTCATACATACTCTTTAAAGCCCCATTAGTAATGCTAACACGCTCCCCTAGGAGAAAAACAAAAAATCCAGCTACCACCAC
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Task1_train_23231
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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?
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Pathogenic; Cystinosis, atypical nephropathic
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AGTTGGAGTGATCAGTGAGCTATAGTTGCACCACTGCACTACAGCCTGAGCTACAGAGCAAGACCTGCCTCTCGGAAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCACCACTTTGGGAGGCCGAAGCGGGTGGATCACCTGAGGTCAGAAGATCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACGAAAAATACAAAAAATTAGCTGGGTATGGTTGTGGGCACCTGTAATCCCAACTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGGGGCGGAGATTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGACTGGCAACAGAGTGAGATTCCATCTCAAAACATATATAATAATAGGAAACCACTGCAGTCTAATGAGCCAGATCCTCACGGTACCTGCAATATGGGTGGAGTATTATCCAGGGAGCACAGAAGCTGGGGACCAGGGGAGACAGCTGGGTTCAGTAAGGATATCATCCTGCTCCCCATCACTGCAGCAGGATTTAAGAGTCTCAGGAAGCACTGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGCTGGGAGTTTGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGACGTGGTGGCACACGCCTATAATTCCAGCTACTCGGGAGGCTGAGGCGGGAGAATCGCTTGAACCCAGGAGGAGGAGTTTGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCGGGGGAAAAATAAAGTCTCAGCAGGCATGCTTGGGAGATCAGATGTTGTAGGCAGGCCTCCGGGTACTTTCCTTGAAGCAGAGCATTTGCCAAATATTGCAGAGCAGCAAGGGTGAAAATGCCCTCTTTGCCAAGTGCCTCATGTATGTGCCTCCTCTGCTTTGTCACTTGGCAGCCAGGCTGGCACAGGGCACACATGGTTTTGTGGACAAGGAGGAGCCCAGTGATGATGGAAGTGGAAGTGATGGTATTGTAGTATAGCAGTGGCCCCGTTTGCCATGCACCAGGCTCTGTGCTGTCAGCTTTCTGAACATCCTGTCATTCATGGCAGCCCTGAAGGGTAGACACTTTTGTTAACTCGTTTTACAGATGAGCAAACTGAGATCAGAGCTTGAATAACTTGCCCAAGGTGACATGTCCAGTAAGAGGACGAGAGCCATCCCTCCTTCCCTCAGAGATAAGCCAGGGGAGGGCATGAGGACAAGTCCATAGCTCTGCTCAGAAAGTCTCACCCAGGCCAGGTATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAAGTCCATCTCTACTAAAAATTCAAAAATTAGCTGGGCATGGTGGCGCACACCTGTAATCCCAGGTACTCGGGACTCAGGAGCCTAAGGCAGGAGAACCGCTTGAACTCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACTCCACTACACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACGACGTCTTCTTCAGCCTGCACGCGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGC
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AGTTGGAGTGATCAGTGAGCTATAGTTGCACCACTGCACTACAGCCTGAGCTACAGAGCAAGACCTGCCTCTCGGAAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCACCACTTTGGGAGGCCGAAGCGGGTGGATCACCTGAGGTCAGAAGATCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACGAAAAATACAAAAAATTAGCTGGGTATGGTTGTGGGCACCTGTAATCCCAACTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGGGGCGGAGATTGCAGTGAGCCAAGATCATGCCACTGCATTCCAGACTGGCAACAGAGTGAGATTCCATCTCAAAACATATATAATAATAGGAAACCACTGCAGTCTAATGAGCCAGATCCTCACGGTACCTGCAATATGGGTGGAGTATTATCCAGGGAGCACAGAAGCTGGGGACCAGGGGAGACAGCTGGGTTCAGTAAGGATATCATCCTGCTCCCCATCACTGCAGCAGGATTTAAGAGTCTCAGGAAGCACTGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGCTGGGAGTTTGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGACGTGGTGGCACACGCCTATAATTCCAGCTACTCGGGAGGCTGAGGCGGGAGAATCGCTTGAACCCAGGAGGAGGAGTTTGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCGGGGGAAAAATAAAGTCTCAGCAGGCATGCTTGGGAGATCAGATGTTGTAGGCAGGCCTCCGGGTACTTTCCTTGAAGCAGAGCATTTGCCAAATATTGCAGAGCAGCAAGGGTGAAAATGCCCTCTTTGCCAAGTGCCTCATGTATGTGCCTCCTCTGCTTTGTCACTTGGCAGCCAGGCTGGCACAGGGCACACATGGTTTTGTGGACAAGGAGGAGCCCAGTGATGATGGAAGTGGAAGTGATGGTATTGTAGTATAGCAGTGGCCCCGTTTGCCATGCACCAGGCTCTGTGCTGTCAGCTTTCTGAACATCCTGTCATTCATGGCAGCCCTGAAGGGTAGACACTTTTGTTAACTCGTTTTACAGATGAGCAAACTGAGATCAGAGCTTGAATAACTTGCCCAAGGTGACATGTCCAGTAAGAGGACGAGAGCCATCCCTCCTTCCCTCAGAGATAAGCCAGGGGAGGGCATGAGGACAAGTCCATAGCTCTGCTCAGAAAGTCTCACCCAGGCCAGGTATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAAGTCCATCTCTACTAAAAATTCAAAAATTAGCTGGGCATGGTGGCGCACACCTGTAATCCCAGGTACTCGGGACTCAGGAGCCTAAGGCAGGAGAACCGCTTGAACTCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACTCCACTACACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGTGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACGACGTCTTCTTCAGCCTGCACGCGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGC
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Task1_train_23232
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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?
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Pathogenic; Inborn genetic diseases
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TCAAAAAAAAAAAAAAAAAGGAAAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACGACGTCTTCTTCAGCCTGCACGCGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGCTTGGTTGGGCTCCAAGGATGAGTGAAGTTCCTATGGAGGAGGGGAGGGGCCAGGGTGGGCTCCTGGAGGGGTCAGGTCACAGAGGCCAAGGGGCATTTGAGAGGGACCCTGAGCAGGCGGGTGCAGCTGGGCTTCAGGGTGCCAGGAGGGGGCCCGCGTGCAGGCGGAGACACCTGTATTCAGCTTTGTTGCTGGAAGCCATGGGTGTCGGCAGGGCAGGGCCCCACCAAGGCTGGGTCCGGGGACCCCTGATATGACAGCTTTGCTTTCCCTTCTCTCAGGGAGTTCCCTTCACACTGTAAGGCCAGCTGGGGGCTGTCTGGCCCCACCCGTATGAACCTTCTAGGCTTTCTTAGCTTTTGGTGTGAAGCGAGAGTGAAGGTGGCCCACATTGGGCCCGTGTTCAGGGAAAGGCAAGGCGAGGGGACAGATTCCTGAGATCCTCAGGCTGCTGCCGGGTCGTGGGACGAGTCAGTACCTGGCTGGGAGAGGCACCAGGCCACCAGAGTTCCGACCCCACGTCTCCAAGTGAGTGCTGAGAGGCGCCCAGTTCTGCCAAGTAGGAACAAAGCAGACAGAGCTTGAGAGTCCAAGCAGCCTGAACAGGAGGCCCTGGCGATGAGAAGGTGTGGTTGGTGCTGGGGATGTCCAGCACCAGCCCAGGTGTGATGCTTTCTGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCG
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TCAAAAAAAAAAAAAAAAAGGAAAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACAACGTCTTCTTCAGCCTGCACGCGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGCTTGGTTGGGCTCCAAGGATGAGTGAAGTTCCTATGGAGGAGGGGAGGGGCCAGGGTGGGCTCCTGGAGGGGTCAGGTCACAGAGGCCAAGGGGCATTTGAGAGGGACCCTGAGCAGGCGGGTGCAGCTGGGCTTCAGGGTGCCAGGAGGGGGCCCGCGTGCAGGCGGAGACACCTGTATTCAGCTTTGTTGCTGGAAGCCATGGGTGTCGGCAGGGCAGGGCCCCACCAAGGCTGGGTCCGGGGACCCCTGATATGACAGCTTTGCTTTCCCTTCTCTCAGGGAGTTCCCTTCACACTGTAAGGCCAGCTGGGGGCTGTCTGGCCCCACCCGTATGAACCTTCTAGGCTTTCTTAGCTTTTGGTGTGAAGCGAGAGTGAAGGTGGCCCACATTGGGCCCGTGTTCAGGGAAAGGCAAGGCGAGGGGACAGATTCCTGAGATCCTCAGGCTGCTGCCGGGTCGTGGGACGAGTCAGTACCTGGCTGGGAGAGGCACCAGGCCACCAGAGTTCCGACCCCACGTCTCCAAGTGAGTGCTGAGAGGCGCCCAGTTCTGCCAAGTAGGAACAAAGCAGACAGAGCTTGAGAGTCCAAGCAGCCTGAACAGGAGGCCCTGGCGATGAGAAGGTGTGGTTGGTGCTGGGGATGTCCAGCACCAGCCCAGGTGTGATGCTTTCTGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCG
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Task1_train_23233
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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?
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Pathogenic; Ocular cystinosis
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TCAAAAAAAAAAAAAAAAAGGAAAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACGACGTCTTCTTCAGCCTGCACGCGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGCTTGGTTGGGCTCCAAGGATGAGTGAAGTTCCTATGGAGGAGGGGAGGGGCCAGGGTGGGCTCCTGGAGGGGTCAGGTCACAGAGGCCAAGGGGCATTTGAGAGGGACCCTGAGCAGGCGGGTGCAGCTGGGCTTCAGGGTGCCAGGAGGGGGCCCGCGTGCAGGCGGAGACACCTGTATTCAGCTTTGTTGCTGGAAGCCATGGGTGTCGGCAGGGCAGGGCCCCACCAAGGCTGGGTCCGGGGACCCCTGATATGACAGCTTTGCTTTCCCTTCTCTCAGGGAGTTCCCTTCACACTGTAAGGCCAGCTGGGGGCTGTCTGGCCCCACCCGTATGAACCTTCTAGGCTTTCTTAGCTTTTGGTGTGAAGCGAGAGTGAAGGTGGCCCACATTGGGCCCGTGTTCAGGGAAAGGCAAGGCGAGGGGACAGATTCCTGAGATCCTCAGGCTGCTGCCGGGTCGTGGGACGAGTCAGTACCTGGCTGGGAGAGGCACCAGGCCACCAGAGTTCCGACCCCACGTCTCCAAGTGAGTGCTGAGAGGCGCCCAGTTCTGCCAAGTAGGAACAAAGCAGACAGAGCTTGAGAGTCCAAGCAGCCTGAACAGGAGGCCCTGGCGATGAGAAGGTGTGGTTGGTGCTGGGGATGTCCAGCACCAGCCCAGGTGTGATGCTTTCTGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCG
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TCAAAAAAAAAAAAAAAAAGGAAAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACAACGTCTTCTTCAGCCTGCACGCGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGCTTGGTTGGGCTCCAAGGATGAGTGAAGTTCCTATGGAGGAGGGGAGGGGCCAGGGTGGGCTCCTGGAGGGGTCAGGTCACAGAGGCCAAGGGGCATTTGAGAGGGACCCTGAGCAGGCGGGTGCAGCTGGGCTTCAGGGTGCCAGGAGGGGGCCCGCGTGCAGGCGGAGACACCTGTATTCAGCTTTGTTGCTGGAAGCCATGGGTGTCGGCAGGGCAGGGCCCCACCAAGGCTGGGTCCGGGGACCCCTGATATGACAGCTTTGCTTTCCCTTCTCTCAGGGAGTTCCCTTCACACTGTAAGGCCAGCTGGGGGCTGTCTGGCCCCACCCGTATGAACCTTCTAGGCTTTCTTAGCTTTTGGTGTGAAGCGAGAGTGAAGGTGGCCCACATTGGGCCCGTGTTCAGGGAAAGGCAAGGCGAGGGGACAGATTCCTGAGATCCTCAGGCTGCTGCCGGGTCGTGGGACGAGTCAGTACCTGGCTGGGAGAGGCACCAGGCCACCAGAGTTCCGACCCCACGTCTCCAAGTGAGTGCTGAGAGGCGCCCAGTTCTGCCAAGTAGGAACAAAGCAGACAGAGCTTGAGAGTCCAAGCAGCCTGAACAGGAGGCCCTGGCGATGAGAAGGTGTGGTTGGTGCTGGGGATGTCCAGCACCAGCCCAGGTGTGATGCTTTCTGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCG
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Task1_train_23234
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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?
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Pathogenic; Juvenile nephropathic cystinosis
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TCAAAAAAAAAAAAAAAAAGGAAAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACGACGTCTTCTTCAGCCTGCACGCGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGCTTGGTTGGGCTCCAAGGATGAGTGAAGTTCCTATGGAGGAGGGGAGGGGCCAGGGTGGGCTCCTGGAGGGGTCAGGTCACAGAGGCCAAGGGGCATTTGAGAGGGACCCTGAGCAGGCGGGTGCAGCTGGGCTTCAGGGTGCCAGGAGGGGGCCCGCGTGCAGGCGGAGACACCTGTATTCAGCTTTGTTGCTGGAAGCCATGGGTGTCGGCAGGGCAGGGCCCCACCAAGGCTGGGTCCGGGGACCCCTGATATGACAGCTTTGCTTTCCCTTCTCTCAGGGAGTTCCCTTCACACTGTAAGGCCAGCTGGGGGCTGTCTGGCCCCACCCGTATGAACCTTCTAGGCTTTCTTAGCTTTTGGTGTGAAGCGAGAGTGAAGGTGGCCCACATTGGGCCCGTGTTCAGGGAAAGGCAAGGCGAGGGGACAGATTCCTGAGATCCTCAGGCTGCTGCCGGGTCGTGGGACGAGTCAGTACCTGGCTGGGAGAGGCACCAGGCCACCAGAGTTCCGACCCCACGTCTCCAAGTGAGTGCTGAGAGGCGCCCAGTTCTGCCAAGTAGGAACAAAGCAGACAGAGCTTGAGAGTCCAAGCAGCCTGAACAGGAGGCCCTGGCGATGAGAAGGTGTGGTTGGTGCTGGGGATGTCCAGCACCAGCCCAGGTGTGATGCTTTCTGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCG
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TCAAAAAAAAAAAAAAAAAGGAAAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACAACGTCTTCTTCAGCCTGCACGCGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGCTTGGTTGGGCTCCAAGGATGAGTGAAGTTCCTATGGAGGAGGGGAGGGGCCAGGGTGGGCTCCTGGAGGGGTCAGGTCACAGAGGCCAAGGGGCATTTGAGAGGGACCCTGAGCAGGCGGGTGCAGCTGGGCTTCAGGGTGCCAGGAGGGGGCCCGCGTGCAGGCGGAGACACCTGTATTCAGCTTTGTTGCTGGAAGCCATGGGTGTCGGCAGGGCAGGGCCCCACCAAGGCTGGGTCCGGGGACCCCTGATATGACAGCTTTGCTTTCCCTTCTCTCAGGGAGTTCCCTTCACACTGTAAGGCCAGCTGGGGGCTGTCTGGCCCCACCCGTATGAACCTTCTAGGCTTTCTTAGCTTTTGGTGTGAAGCGAGAGTGAAGGTGGCCCACATTGGGCCCGTGTTCAGGGAAAGGCAAGGCGAGGGGACAGATTCCTGAGATCCTCAGGCTGCTGCCGGGTCGTGGGACGAGTCAGTACCTGGCTGGGAGAGGCACCAGGCCACCAGAGTTCCGACCCCACGTCTCCAAGTGAGTGCTGAGAGGCGCCCAGTTCTGCCAAGTAGGAACAAAGCAGACAGAGCTTGAGAGTCCAAGCAGCCTGAACAGGAGGCCCTGGCGATGAGAAGGTGTGGTTGGTGCTGGGGATGTCCAGCACCAGCCCAGGTGTGATGCTTTCTGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCG
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Task1_train_23235
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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?
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Pathogenic; Nephropathic cystinosis
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TCAAAAAAAAAAAAAAAAAGGAAAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACGACGTCTTCTTCAGCCTGCACGCGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGCTTGGTTGGGCTCCAAGGATGAGTGAAGTTCCTATGGAGGAGGGGAGGGGCCAGGGTGGGCTCCTGGAGGGGTCAGGTCACAGAGGCCAAGGGGCATTTGAGAGGGACCCTGAGCAGGCGGGTGCAGCTGGGCTTCAGGGTGCCAGGAGGGGGCCCGCGTGCAGGCGGAGACACCTGTATTCAGCTTTGTTGCTGGAAGCCATGGGTGTCGGCAGGGCAGGGCCCCACCAAGGCTGGGTCCGGGGACCCCTGATATGACAGCTTTGCTTTCCCTTCTCTCAGGGAGTTCCCTTCACACTGTAAGGCCAGCTGGGGGCTGTCTGGCCCCACCCGTATGAACCTTCTAGGCTTTCTTAGCTTTTGGTGTGAAGCGAGAGTGAAGGTGGCCCACATTGGGCCCGTGTTCAGGGAAAGGCAAGGCGAGGGGACAGATTCCTGAGATCCTCAGGCTGCTGCCGGGTCGTGGGACGAGTCAGTACCTGGCTGGGAGAGGCACCAGGCCACCAGAGTTCCGACCCCACGTCTCCAAGTGAGTGCTGAGAGGCGCCCAGTTCTGCCAAGTAGGAACAAAGCAGACAGAGCTTGAGAGTCCAAGCAGCCTGAACAGGAGGCCCTGGCGATGAGAAGGTGTGGTTGGTGCTGGGGATGTCCAGCACCAGCCCAGGTGTGATGCTTTCTGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCG
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TCAAAAAAAAAAAAAAAAAGGAAAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACAACGTCTTCTTCAGCCTGCACGCGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGCTTGGTTGGGCTCCAAGGATGAGTGAAGTTCCTATGGAGGAGGGGAGGGGCCAGGGTGGGCTCCTGGAGGGGTCAGGTCACAGAGGCCAAGGGGCATTTGAGAGGGACCCTGAGCAGGCGGGTGCAGCTGGGCTTCAGGGTGCCAGGAGGGGGCCCGCGTGCAGGCGGAGACACCTGTATTCAGCTTTGTTGCTGGAAGCCATGGGTGTCGGCAGGGCAGGGCCCCACCAAGGCTGGGTCCGGGGACCCCTGATATGACAGCTTTGCTTTCCCTTCTCTCAGGGAGTTCCCTTCACACTGTAAGGCCAGCTGGGGGCTGTCTGGCCCCACCCGTATGAACCTTCTAGGCTTTCTTAGCTTTTGGTGTGAAGCGAGAGTGAAGGTGGCCCACATTGGGCCCGTGTTCAGGGAAAGGCAAGGCGAGGGGACAGATTCCTGAGATCCTCAGGCTGCTGCCGGGTCGTGGGACGAGTCAGTACCTGGCTGGGAGAGGCACCAGGCCACCAGAGTTCCGACCCCACGTCTCCAAGTGAGTGCTGAGAGGCGCCCAGTTCTGCCAAGTAGGAACAAAGCAGACAGAGCTTGAGAGTCCAAGCAGCCTGAACAGGAGGCCCTGGCGATGAGAAGGTGTGGTTGGTGCTGGGGATGTCCAGCACCAGCCCAGGTGTGATGCTTTCTGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCG
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Task1_train_23236
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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.
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Pathogenic; Cystinosis
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TCAAAAAAAAAAAAAAAAAGGAAAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACGACGTCTTCTTCAGCCTGCACGCGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGCTTGGTTGGGCTCCAAGGATGAGTGAAGTTCCTATGGAGGAGGGGAGGGGCCAGGGTGGGCTCCTGGAGGGGTCAGGTCACAGAGGCCAAGGGGCATTTGAGAGGGACCCTGAGCAGGCGGGTGCAGCTGGGCTTCAGGGTGCCAGGAGGGGGCCCGCGTGCAGGCGGAGACACCTGTATTCAGCTTTGTTGCTGGAAGCCATGGGTGTCGGCAGGGCAGGGCCCCACCAAGGCTGGGTCCGGGGACCCCTGATATGACAGCTTTGCTTTCCCTTCTCTCAGGGAGTTCCCTTCACACTGTAAGGCCAGCTGGGGGCTGTCTGGCCCCACCCGTATGAACCTTCTAGGCTTTCTTAGCTTTTGGTGTGAAGCGAGAGTGAAGGTGGCCCACATTGGGCCCGTGTTCAGGGAAAGGCAAGGCGAGGGGACAGATTCCTGAGATCCTCAGGCTGCTGCCGGGTCGTGGGACGAGTCAGTACCTGGCTGGGAGAGGCACCAGGCCACCAGAGTTCCGACCCCACGTCTCCAAGTGAGTGCTGAGAGGCGCCCAGTTCTGCCAAGTAGGAACAAAGCAGACAGAGCTTGAGAGTCCAAGCAGCCTGAACAGGAGGCCCTGGCGATGAGAAGGTGTGGTTGGTGCTGGGGATGTCCAGCACCAGCCCAGGTGTGATGCTTTCTGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCG
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TCAAAAAAAAAAAAAAAAAGGAAAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACAACGTCTTCTTCAGCCTGCACGCGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGCTTGGTTGGGCTCCAAGGATGAGTGAAGTTCCTATGGAGGAGGGGAGGGGCCAGGGTGGGCTCCTGGAGGGGTCAGGTCACAGAGGCCAAGGGGCATTTGAGAGGGACCCTGAGCAGGCGGGTGCAGCTGGGCTTCAGGGTGCCAGGAGGGGGCCCGCGTGCAGGCGGAGACACCTGTATTCAGCTTTGTTGCTGGAAGCCATGGGTGTCGGCAGGGCAGGGCCCCACCAAGGCTGGGTCCGGGGACCCCTGATATGACAGCTTTGCTTTCCCTTCTCTCAGGGAGTTCCCTTCACACTGTAAGGCCAGCTGGGGGCTGTCTGGCCCCACCCGTATGAACCTTCTAGGCTTTCTTAGCTTTTGGTGTGAAGCGAGAGTGAAGGTGGCCCACATTGGGCCCGTGTTCAGGGAAAGGCAAGGCGAGGGGACAGATTCCTGAGATCCTCAGGCTGCTGCCGGGTCGTGGGACGAGTCAGTACCTGGCTGGGAGAGGCACCAGGCCACCAGAGTTCCGACCCCACGTCTCCAAGTGAGTGCTGAGAGGCGCCCAGTTCTGCCAAGTAGGAACAAAGCAGACAGAGCTTGAGAGTCCAAGCAGCCTGAACAGGAGGCCCTGGCGATGAGAAGGTGTGGTTGGTGCTGGGGATGTCCAGCACCAGCCCAGGTGTGATGCTTTCTGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCG
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Task1_train_23237
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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.
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Pathogenic; Inborn genetic diseases
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AAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACGACGTCTTCTTCAGCCTGCACGCGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGCTTGGTTGGGCTCCAAGGATGAGTGAAGTTCCTATGGAGGAGGGGAGGGGCCAGGGTGGGCTCCTGGAGGGGTCAGGTCACAGAGGCCAAGGGGCATTTGAGAGGGACCCTGAGCAGGCGGGTGCAGCTGGGCTTCAGGGTGCCAGGAGGGGGCCCGCGTGCAGGCGGAGACACCTGTATTCAGCTTTGTTGCTGGAAGCCATGGGTGTCGGCAGGGCAGGGCCCCACCAAGGCTGGGTCCGGGGACCCCTGATATGACAGCTTTGCTTTCCCTTCTCTCAGGGAGTTCCCTTCACACTGTAAGGCCAGCTGGGGGCTGTCTGGCCCCACCCGTATGAACCTTCTAGGCTTTCTTAGCTTTTGGTGTGAAGCGAGAGTGAAGGTGGCCCACATTGGGCCCGTGTTCAGGGAAAGGCAAGGCGAGGGGACAGATTCCTGAGATCCTCAGGCTGCTGCCGGGTCGTGGGACGAGTCAGTACCTGGCTGGGAGAGGCACCAGGCCACCAGAGTTCCGACCCCACGTCTCCAAGTGAGTGCTGAGAGGCGCCCAGTTCTGCCAAGTAGGAACAAAGCAGACAGAGCTTGAGAGTCCAAGCAGCCTGAACAGGAGGCCCTGGCGATGAGAAGGTGTGGTTGGTGCTGGGGATGTCCAGCACCAGCCCAGGTGTGATGCTTTCTGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTG
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AAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACGACGTCTTCTTCAGCCTGCACGTGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGCTTGGTTGGGCTCCAAGGATGAGTGAAGTTCCTATGGAGGAGGGGAGGGGCCAGGGTGGGCTCCTGGAGGGGTCAGGTCACAGAGGCCAAGGGGCATTTGAGAGGGACCCTGAGCAGGCGGGTGCAGCTGGGCTTCAGGGTGCCAGGAGGGGGCCCGCGTGCAGGCGGAGACACCTGTATTCAGCTTTGTTGCTGGAAGCCATGGGTGTCGGCAGGGCAGGGCCCCACCAAGGCTGGGTCCGGGGACCCCTGATATGACAGCTTTGCTTTCCCTTCTCTCAGGGAGTTCCCTTCACACTGTAAGGCCAGCTGGGGGCTGTCTGGCCCCACCCGTATGAACCTTCTAGGCTTTCTTAGCTTTTGGTGTGAAGCGAGAGTGAAGGTGGCCCACATTGGGCCCGTGTTCAGGGAAAGGCAAGGCGAGGGGACAGATTCCTGAGATCCTCAGGCTGCTGCCGGGTCGTGGGACGAGTCAGTACCTGGCTGGGAGAGGCACCAGGCCACCAGAGTTCCGACCCCACGTCTCCAAGTGAGTGCTGAGAGGCGCCCAGTTCTGCCAAGTAGGAACAAAGCAGACAGAGCTTGAGAGTCCAAGCAGCCTGAACAGGAGGCCCTGGCGATGAGAAGGTGTGGTTGGTGCTGGGGATGTCCAGCACCAGCCCAGGTGTGATGCTTTCTGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTG
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Task1_train_23238
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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.
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Pathogenic; Ocular cystinosis
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AAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACGACGTCTTCTTCAGCCTGCACGCGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGCTTGGTTGGGCTCCAAGGATGAGTGAAGTTCCTATGGAGGAGGGGAGGGGCCAGGGTGGGCTCCTGGAGGGGTCAGGTCACAGAGGCCAAGGGGCATTTGAGAGGGACCCTGAGCAGGCGGGTGCAGCTGGGCTTCAGGGTGCCAGGAGGGGGCCCGCGTGCAGGCGGAGACACCTGTATTCAGCTTTGTTGCTGGAAGCCATGGGTGTCGGCAGGGCAGGGCCCCACCAAGGCTGGGTCCGGGGACCCCTGATATGACAGCTTTGCTTTCCCTTCTCTCAGGGAGTTCCCTTCACACTGTAAGGCCAGCTGGGGGCTGTCTGGCCCCACCCGTATGAACCTTCTAGGCTTTCTTAGCTTTTGGTGTGAAGCGAGAGTGAAGGTGGCCCACATTGGGCCCGTGTTCAGGGAAAGGCAAGGCGAGGGGACAGATTCCTGAGATCCTCAGGCTGCTGCCGGGTCGTGGGACGAGTCAGTACCTGGCTGGGAGAGGCACCAGGCCACCAGAGTTCCGACCCCACGTCTCCAAGTGAGTGCTGAGAGGCGCCCAGTTCTGCCAAGTAGGAACAAAGCAGACAGAGCTTGAGAGTCCAAGCAGCCTGAACAGGAGGCCCTGGCGATGAGAAGGTGTGGTTGGTGCTGGGGATGTCCAGCACCAGCCCAGGTGTGATGCTTTCTGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTG
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AAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACGACGTCTTCTTCAGCCTGCACGTGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGCTTGGTTGGGCTCCAAGGATGAGTGAAGTTCCTATGGAGGAGGGGAGGGGCCAGGGTGGGCTCCTGGAGGGGTCAGGTCACAGAGGCCAAGGGGCATTTGAGAGGGACCCTGAGCAGGCGGGTGCAGCTGGGCTTCAGGGTGCCAGGAGGGGGCCCGCGTGCAGGCGGAGACACCTGTATTCAGCTTTGTTGCTGGAAGCCATGGGTGTCGGCAGGGCAGGGCCCCACCAAGGCTGGGTCCGGGGACCCCTGATATGACAGCTTTGCTTTCCCTTCTCTCAGGGAGTTCCCTTCACACTGTAAGGCCAGCTGGGGGCTGTCTGGCCCCACCCGTATGAACCTTCTAGGCTTTCTTAGCTTTTGGTGTGAAGCGAGAGTGAAGGTGGCCCACATTGGGCCCGTGTTCAGGGAAAGGCAAGGCGAGGGGACAGATTCCTGAGATCCTCAGGCTGCTGCCGGGTCGTGGGACGAGTCAGTACCTGGCTGGGAGAGGCACCAGGCCACCAGAGTTCCGACCCCACGTCTCCAAGTGAGTGCTGAGAGGCGCCCAGTTCTGCCAAGTAGGAACAAAGCAGACAGAGCTTGAGAGTCCAAGCAGCCTGAACAGGAGGCCCTGGCGATGAGAAGGTGTGGTTGGTGCTGGGGATGTCCAGCACCAGCCCAGGTGTGATGCTTTCTGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTG
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Task1_train_23239
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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?
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Pathogenic; Juvenile nephropathic cystinosis
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AAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACGACGTCTTCTTCAGCCTGCACGCGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGCTTGGTTGGGCTCCAAGGATGAGTGAAGTTCCTATGGAGGAGGGGAGGGGCCAGGGTGGGCTCCTGGAGGGGTCAGGTCACAGAGGCCAAGGGGCATTTGAGAGGGACCCTGAGCAGGCGGGTGCAGCTGGGCTTCAGGGTGCCAGGAGGGGGCCCGCGTGCAGGCGGAGACACCTGTATTCAGCTTTGTTGCTGGAAGCCATGGGTGTCGGCAGGGCAGGGCCCCACCAAGGCTGGGTCCGGGGACCCCTGATATGACAGCTTTGCTTTCCCTTCTCTCAGGGAGTTCCCTTCACACTGTAAGGCCAGCTGGGGGCTGTCTGGCCCCACCCGTATGAACCTTCTAGGCTTTCTTAGCTTTTGGTGTGAAGCGAGAGTGAAGGTGGCCCACATTGGGCCCGTGTTCAGGGAAAGGCAAGGCGAGGGGACAGATTCCTGAGATCCTCAGGCTGCTGCCGGGTCGTGGGACGAGTCAGTACCTGGCTGGGAGAGGCACCAGGCCACCAGAGTTCCGACCCCACGTCTCCAAGTGAGTGCTGAGAGGCGCCCAGTTCTGCCAAGTAGGAACAAAGCAGACAGAGCTTGAGAGTCCAAGCAGCCTGAACAGGAGGCCCTGGCGATGAGAAGGTGTGGTTGGTGCTGGGGATGTCCAGCACCAGCCCAGGTGTGATGCTTTCTGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTG
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AAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACGACGTCTTCTTCAGCCTGCACGTGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGCTTGGTTGGGCTCCAAGGATGAGTGAAGTTCCTATGGAGGAGGGGAGGGGCCAGGGTGGGCTCCTGGAGGGGTCAGGTCACAGAGGCCAAGGGGCATTTGAGAGGGACCCTGAGCAGGCGGGTGCAGCTGGGCTTCAGGGTGCCAGGAGGGGGCCCGCGTGCAGGCGGAGACACCTGTATTCAGCTTTGTTGCTGGAAGCCATGGGTGTCGGCAGGGCAGGGCCCCACCAAGGCTGGGTCCGGGGACCCCTGATATGACAGCTTTGCTTTCCCTTCTCTCAGGGAGTTCCCTTCACACTGTAAGGCCAGCTGGGGGCTGTCTGGCCCCACCCGTATGAACCTTCTAGGCTTTCTTAGCTTTTGGTGTGAAGCGAGAGTGAAGGTGGCCCACATTGGGCCCGTGTTCAGGGAAAGGCAAGGCGAGGGGACAGATTCCTGAGATCCTCAGGCTGCTGCCGGGTCGTGGGACGAGTCAGTACCTGGCTGGGAGAGGCACCAGGCCACCAGAGTTCCGACCCCACGTCTCCAAGTGAGTGCTGAGAGGCGCCCAGTTCTGCCAAGTAGGAACAAAGCAGACAGAGCTTGAGAGTCCAAGCAGCCTGAACAGGAGGCCCTGGCGATGAGAAGGTGTGGTTGGTGCTGGGGATGTCCAGCACCAGCCCAGGTGTGATGCTTTCTGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTG
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Task1_train_23240
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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?
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Pathogenic; Ocular cystinosis
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AAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACGACGTCTTCTTCAGCCTGCACGCGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGCTTGGTTGGGCTCCAAGGATGAGTGAAGTTCCTATGGAGGAGGGGAGGGGCCAGGGTGGGCTCCTGGAGGGGTCAGGTCACAGAGGCCAAGGGGCATTTGAGAGGGACCCTGAGCAGGCGGGTGCAGCTGGGCTTCAGGGTGCCAGGAGGGGGCCCGCGTGCAGGCGGAGACACCTGTATTCAGCTTTGTTGCTGGAAGCCATGGGTGTCGGCAGGGCAGGGCCCCACCAAGGCTGGGTCCGGGGACCCCTGATATGACAGCTTTGCTTTCCCTTCTCTCAGGGAGTTCCCTTCACACTGTAAGGCCAGCTGGGGGCTGTCTGGCCCCACCCGTATGAACCTTCTAGGCTTTCTTAGCTTTTGGTGTGAAGCGAGAGTGAAGGTGGCCCACATTGGGCCCGTGTTCAGGGAAAGGCAAGGCGAGGGGACAGATTCCTGAGATCCTCAGGCTGCTGCCGGGTCGTGGGACGAGTCAGTACCTGGCTGGGAGAGGCACCAGGCCACCAGAGTTCCGACCCCACGTCTCCAAGTGAGTGCTGAGAGGCGCCCAGTTCTGCCAAGTAGGAACAAAGCAGACAGAGCTTGAGAGTCCAAGCAGCCTGAACAGGAGGCCCTGGCGATGAGAAGGTGTGGTTGGTGCTGGGGATGTCCAGCACCAGCCCAGGTGTGATGCTTTCTGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTG
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AAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACGACGTCTTCTTCAGCCTGCACGTGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGCTTGGTTGGGCTCCAAGGATGAGTGAAGTTCCTATGGAGGAGGGGAGGGGCCAGGGTGGGCTCCTGGAGGGGTCAGGTCACAGAGGCCAAGGGGCATTTGAGAGGGACCCTGAGCAGGCGGGTGCAGCTGGGCTTCAGGGTGCCAGGAGGGGGCCCGCGTGCAGGCGGAGACACCTGTATTCAGCTTTGTTGCTGGAAGCCATGGGTGTCGGCAGGGCAGGGCCCCACCAAGGCTGGGTCCGGGGACCCCTGATATGACAGCTTTGCTTTCCCTTCTCTCAGGGAGTTCCCTTCACACTGTAAGGCCAGCTGGGGGCTGTCTGGCCCCACCCGTATGAACCTTCTAGGCTTTCTTAGCTTTTGGTGTGAAGCGAGAGTGAAGGTGGCCCACATTGGGCCCGTGTTCAGGGAAAGGCAAGGCGAGGGGACAGATTCCTGAGATCCTCAGGCTGCTGCCGGGTCGTGGGACGAGTCAGTACCTGGCTGGGAGAGGCACCAGGCCACCAGAGTTCCGACCCCACGTCTCCAAGTGAGTGCTGAGAGGCGCCCAGTTCTGCCAAGTAGGAACAAAGCAGACAGAGCTTGAGAGTCCAAGCAGCCTGAACAGGAGGCCCTGGCGATGAGAAGGTGTGGTTGGTGCTGGGGATGTCCAGCACCAGCCCAGGTGTGATGCTTTCTGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTG
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Task1_train_23241
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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?
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Pathogenic; Juvenile nephropathic cystinosis
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AAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACGACGTCTTCTTCAGCCTGCACGCGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGCTTGGTTGGGCTCCAAGGATGAGTGAAGTTCCTATGGAGGAGGGGAGGGGCCAGGGTGGGCTCCTGGAGGGGTCAGGTCACAGAGGCCAAGGGGCATTTGAGAGGGACCCTGAGCAGGCGGGTGCAGCTGGGCTTCAGGGTGCCAGGAGGGGGCCCGCGTGCAGGCGGAGACACCTGTATTCAGCTTTGTTGCTGGAAGCCATGGGTGTCGGCAGGGCAGGGCCCCACCAAGGCTGGGTCCGGGGACCCCTGATATGACAGCTTTGCTTTCCCTTCTCTCAGGGAGTTCCCTTCACACTGTAAGGCCAGCTGGGGGCTGTCTGGCCCCACCCGTATGAACCTTCTAGGCTTTCTTAGCTTTTGGTGTGAAGCGAGAGTGAAGGTGGCCCACATTGGGCCCGTGTTCAGGGAAAGGCAAGGCGAGGGGACAGATTCCTGAGATCCTCAGGCTGCTGCCGGGTCGTGGGACGAGTCAGTACCTGGCTGGGAGAGGCACCAGGCCACCAGAGTTCCGACCCCACGTCTCCAAGTGAGTGCTGAGAGGCGCCCAGTTCTGCCAAGTAGGAACAAAGCAGACAGAGCTTGAGAGTCCAAGCAGCCTGAACAGGAGGCCCTGGCGATGAGAAGGTGTGGTTGGTGCTGGGGATGTCCAGCACCAGCCCAGGTGTGATGCTTTCTGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTG
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AAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACGACGTCTTCTTCAGCCTGCACGTGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGCTTGGTTGGGCTCCAAGGATGAGTGAAGTTCCTATGGAGGAGGGGAGGGGCCAGGGTGGGCTCCTGGAGGGGTCAGGTCACAGAGGCCAAGGGGCATTTGAGAGGGACCCTGAGCAGGCGGGTGCAGCTGGGCTTCAGGGTGCCAGGAGGGGGCCCGCGTGCAGGCGGAGACACCTGTATTCAGCTTTGTTGCTGGAAGCCATGGGTGTCGGCAGGGCAGGGCCCCACCAAGGCTGGGTCCGGGGACCCCTGATATGACAGCTTTGCTTTCCCTTCTCTCAGGGAGTTCCCTTCACACTGTAAGGCCAGCTGGGGGCTGTCTGGCCCCACCCGTATGAACCTTCTAGGCTTTCTTAGCTTTTGGTGTGAAGCGAGAGTGAAGGTGGCCCACATTGGGCCCGTGTTCAGGGAAAGGCAAGGCGAGGGGACAGATTCCTGAGATCCTCAGGCTGCTGCCGGGTCGTGGGACGAGTCAGTACCTGGCTGGGAGAGGCACCAGGCCACCAGAGTTCCGACCCCACGTCTCCAAGTGAGTGCTGAGAGGCGCCCAGTTCTGCCAAGTAGGAACAAAGCAGACAGAGCTTGAGAGTCCAAGCAGCCTGAACAGGAGGCCCTGGCGATGAGAAGGTGTGGTTGGTGCTGGGGATGTCCAGCACCAGCCCAGGTGTGATGCTTTCTGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTG
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Task1_train_23242
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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.
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Pathogenic; Nephropathic cystinosis
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AAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACGACGTCTTCTTCAGCCTGCACGCGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGCTTGGTTGGGCTCCAAGGATGAGTGAAGTTCCTATGGAGGAGGGGAGGGGCCAGGGTGGGCTCCTGGAGGGGTCAGGTCACAGAGGCCAAGGGGCATTTGAGAGGGACCCTGAGCAGGCGGGTGCAGCTGGGCTTCAGGGTGCCAGGAGGGGGCCCGCGTGCAGGCGGAGACACCTGTATTCAGCTTTGTTGCTGGAAGCCATGGGTGTCGGCAGGGCAGGGCCCCACCAAGGCTGGGTCCGGGGACCCCTGATATGACAGCTTTGCTTTCCCTTCTCTCAGGGAGTTCCCTTCACACTGTAAGGCCAGCTGGGGGCTGTCTGGCCCCACCCGTATGAACCTTCTAGGCTTTCTTAGCTTTTGGTGTGAAGCGAGAGTGAAGGTGGCCCACATTGGGCCCGTGTTCAGGGAAAGGCAAGGCGAGGGGACAGATTCCTGAGATCCTCAGGCTGCTGCCGGGTCGTGGGACGAGTCAGTACCTGGCTGGGAGAGGCACCAGGCCACCAGAGTTCCGACCCCACGTCTCCAAGTGAGTGCTGAGAGGCGCCCAGTTCTGCCAAGTAGGAACAAAGCAGACAGAGCTTGAGAGTCCAAGCAGCCTGAACAGGAGGCCCTGGCGATGAGAAGGTGTGGTTGGTGCTGGGGATGTCCAGCACCAGCCCAGGTGTGATGCTTTCTGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTG
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AAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTATCTACATGGAAATCACTCCAATCAGACCGGGTAGGCTGGCCTCAGGGTGTGCGGGCCTCACGTGACAAGAAGGGGGCCGTGCTGGGCACGTGGGAGTCTCCTTCAGAAGCCCAGCCTCAGCTCATCCCGGTCCCCAAACTCCTTTCCAGCCCGAGGATACGCTTTCTTGTGATCCGCAGCAGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATCTCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGGTAACCCCCTGGGCCGTATGTGCAGGCTCTCTCGGGGCCCCTAGGAGCAGGGCGTTCCAGCAAGGCTGCCGATAGCGCAGCCTCCAACGTCCCCTCTACCCTTCTGTCTGCCTACCCTTTCCAGAAAGTTGTCCCAGTGCGAAGGCTCGGAGAGCCTGGGTCGGATTCCCGTGCTGGGCGTTTCATCCCTTGCCCAGCTCAGCCCCTCCCTGGGAAAGCAGGAAAACAGGGAAAAGGGGCTCCTTAGTTTAGTGGAGAATGGGCGGGGGAGGGAGGGCAGTCCATCGTGAATCTCCTCTGCGCTGGGTCCATCCGACCCTGGAGGATTGCGGCGTCAAGTCCTGTAGTCTCGGTCTTTGGGACGAAGCTGTCCCACCTTGACTTGCAAAGACACAAGCTGTCCTGCAGTCACCCTGGCCACGTCGGCCTCCTGGGTGATGGCAAGCAGAGAGCCGGGAGGGAGACGCTTTCTTCCGGGGGCCTCCTGACTCCCCTCTGGAGCCAGGACTTGAGGGGCAGGGAGATCTTGGGCAGGGGAGGAAGGGAGGAGGGAAGTAGCTCTTCAAGAGGGCAGGGATTAGGTGGCATCCGTGGTGGTAGCAGGAGGGACCTAAGGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCTTGTCCCTCCACCCCCTGCAGTGTCATTGGTCTGAGCTTCGACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTCCTCTGGGTGCCCTACATCAAGGTACGGCCTTGCCTGCCCTACATCTCTGCCCACATGGCGTGGTGGCCCGGCTGCCCCTCACCACCCAGCTTCTCCCACCCACCAAACAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCCGTGAACAGCAACGACGTCTTCTTCAGCCTGCACGTGGTTGTCCTCACGCTGATCATCATCGTGCAGTGCTGCCTGTATGAGGTGAGACCAGCCCTGGCCCCCCACAGGCCACCCCAGCCAACACCCGCCACCCCACCTCACCTTTGACAGAAGACACGGCAGAGCCTGGGAAAGGAAGGGTGTGTGTTCATTCATCCAGGTCCTGTGCTGGGCATAGAAGACACCCATGAGTCCAGGCCCTCAGAGCCCCCCAAGTCTGGGGTGAGGGACTCAGGGAGAGGCAGTGCCTGGACTCAGGCTGAGAGCCGTGCACAGAGGAGCACAGACAGCTCATGGAGGAGTGCAAGGCCCTGAGCCCTGCCAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGAGGAGGGCACAGAAGGGAGGAGGGCAGAGGAAGACGCTTGGTTGGGCTCCAAGGATGAGTGAAGTTCCTATGGAGGAGGGGAGGGGCCAGGGTGGGCTCCTGGAGGGGTCAGGTCACAGAGGCCAAGGGGCATTTGAGAGGGACCCTGAGCAGGCGGGTGCAGCTGGGCTTCAGGGTGCCAGGAGGGGGCCCGCGTGCAGGCGGAGACACCTGTATTCAGCTTTGTTGCTGGAAGCCATGGGTGTCGGCAGGGCAGGGCCCCACCAAGGCTGGGTCCGGGGACCCCTGATATGACAGCTTTGCTTTCCCTTCTCTCAGGGAGTTCCCTTCACACTGTAAGGCCAGCTGGGGGCTGTCTGGCCCCACCCGTATGAACCTTCTAGGCTTTCTTAGCTTTTGGTGTGAAGCGAGAGTGAAGGTGGCCCACATTGGGCCCGTGTTCAGGGAAAGGCAAGGCGAGGGGACAGATTCCTGAGATCCTCAGGCTGCTGCCGGGTCGTGGGACGAGTCAGTACCTGGCTGGGAGAGGCACCAGGCCACCAGAGTTCCGACCCCACGTCTCCAAGTGAGTGCTGAGAGGCGCCCAGTTCTGCCAAGTAGGAACAAAGCAGACAGAGCTTGAGAGTCCAAGCAGCCTGAACAGGAGGCCCTGGCGATGAGAAGGTGTGGTTGGTGCTGGGGATGTCCAGCACCAGCCCAGGTGTGATGCTTTCTGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTG
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Task1_train_23243
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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?
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Pathogenic; Cystinosis
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GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATG
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GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCAGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATG
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Task1_train_23244
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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.
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Pathogenic; Nephropathic cystinosis
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GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATG
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GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCAGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATG
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Task1_train_23245
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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.
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Pathogenic; Ocular cystinosis
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GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATG
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GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCAGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATG
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Task1_train_23246
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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?
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Pathogenic; Juvenile nephropathic cystinosis
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GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATG
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GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCAGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATG
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Task1_train_23247
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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?
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Pathogenic; Inborn genetic diseases
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GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATG
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GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCAGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATG
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Task1_train_23248
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Here’s a variant in CTNS (cystinosin, lysosomal cystine transporter) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Ocular cystinosis
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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
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GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATG
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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
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GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATG
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GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCAGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATG
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Task1_train_23251
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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.
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Pathogenic; Inborn genetic diseases
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GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATG
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GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCCGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATG
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Task1_train_23252
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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.
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Pathogenic; Ocular cystinosis
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GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATG
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GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCCGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATG
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Task1_train_23253
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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?
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Pathogenic; Juvenile nephropathic cystinosis
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GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATG
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GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCCGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATG
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Task1_train_23254
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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?
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Pathogenic; Ocular cystinosis
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CTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGT
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CTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGTGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGT
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Task1_train_23255
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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?
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Pathogenic; Juvenile nephropathic cystinosis
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CTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGT
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CTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGTGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGT
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Task1_train_23256
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This variant affects gene CTNS (cystinosin, lysosomal cystine transporter) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
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Pathogenic; Inborn genetic diseases
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CTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGT
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CTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGTGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGT
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Task1_train_23257
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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.
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Pathogenic; Ocular cystinosis
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CCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGA
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CCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAAGGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGA
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Task1_train_23258
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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.
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Pathogenic; Juvenile nephropathic cystinosis
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CCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGA
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CCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAAGGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGA
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Task1_train_23259
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This variant affects gene CTNS (cystinosin, lysosomal cystine transporter) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
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Pathogenic; Inborn genetic diseases
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CCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGA
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CCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAAGGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGA
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Task1_train_23260
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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.
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Pathogenic; Nephropathic cystinosis
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CCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGA
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CCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAAGGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGA
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Task1_train_23261
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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.
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Pathogenic; Ocular cystinosis
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CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGACTTTTCCGGCTGAGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACCTGACATCAGGAGTTCGAGACCAGCCTAGCCAACATTGCAAAACCCCATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGTTGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCGAAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAT
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CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCAGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGACTTTTCCGGCTGAGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACCTGACATCAGGAGTTCGAGACCAGCCTAGCCAACATTGCAAAACCCCATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGTTGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCGAAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAT
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Task1_train_23262
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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?
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Pathogenic; Juvenile nephropathic cystinosis
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CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGACTTTTCCGGCTGAGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACCTGACATCAGGAGTTCGAGACCAGCCTAGCCAACATTGCAAAACCCCATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGTTGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCGAAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAT
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CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCAGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGACTTTTCCGGCTGAGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACCTGACATCAGGAGTTCGAGACCAGCCTAGCCAACATTGCAAAACCCCATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGTTGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCGAAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAT
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Task1_train_23263
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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?
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Pathogenic; Nephropathic cystinosis
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CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGACTTTTCCGGCTGAGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACCTGACATCAGGAGTTCGAGACCAGCCTAGCCAACATTGCAAAACCCCATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGTTGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCGAAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAT
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CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCAGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGACTTTTCCGGCTGAGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACCTGACATCAGGAGTTCGAGACCAGCCTAGCCAACATTGCAAAACCCCATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGTTGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCGAAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAT
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Task1_train_23264
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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?
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Pathogenic; Ocular cystinosis
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CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGACTTTTCCGGCTGAGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACCTGACATCAGGAGTTCGAGACCAGCCTAGCCAACATTGCAAAACCCCATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGTTGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCGAAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAT
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CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCAGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGACTTTTCCGGCTGAGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACCTGACATCAGGAGTTCGAGACCAGCCTAGCCAACATTGCAAAACCCCATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGTTGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCGAAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAT
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Task1_train_23265
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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.
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Pathogenic; Juvenile nephropathic cystinosis
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CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGACTTTTCCGGCTGAGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACCTGACATCAGGAGTTCGAGACCAGCCTAGCCAACATTGCAAAACCCCATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGTTGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCGAAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAT
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CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCAGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGACTTTTCCGGCTGAGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACCTGACATCAGGAGTTCGAGACCAGCCTAGCCAACATTGCAAAACCCCATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGTTGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCGAAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAT
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Task1_train_23266
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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.
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Pathogenic; Inborn genetic diseases
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CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGACTTTTCCGGCTGAGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACCTGACATCAGGAGTTCGAGACCAGCCTAGCCAACATTGCAAAACCCCATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGTTGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCGAAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAT
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CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCAGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGACTTTTCCGGCTGAGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACCTGACATCAGGAGTTCGAGACCAGCCTAGCCAACATTGCAAAACCCCATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGTTGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCGAAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAT
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Task1_train_23267
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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.
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Pathogenic; Cystinosis
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CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGACTTTTCCGGCTGAGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACCTGACATCAGGAGTTCGAGACCAGCCTAGCCAACATTGCAAAACCCCATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGTTGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCGAAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAT
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CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCAGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGACTTTTCCGGCTGAGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACCTGACATCAGGAGTTCGAGACCAGCCTAGCCAACATTGCAAAACCCCATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGTTGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCGAAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAT
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Task1_train_23268
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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?
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Pathogenic; Nephropathic cystinosis
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CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGACTTTTCCGGCTGAGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACCTGACATCAGGAGTTCGAGACCAGCCTAGCCAACATTGCAAAACCCCATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGTTGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCGAAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAT
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CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCGCAGAGCTCAGCCCGTCCTATGAGCATAGCCGGTCCTCTTCAGATCCGGGGACTCAGGGTCCAGCACATCTTGCCCCACAGCCTGGGACAGGGTCAGGGCTGAAGTTGCTGCACCCGGGGACCTAGGGCCTCATTTAACTCACCCCATTCCCAAAGGGAGAAGCCTTGTTCCAGTGCCCCCAGCCCTGGGAGCCTCGTGTTCTGTGAGCTCAGGAGGGCCAGCGTTCTGACTGGGAGGCAGGACTGGACTCTTAGGCTGAGCAGGACTAAGTTCTGTGGCCAAGGAGCCCGGGCGTTCCGGGCCAGGCCAGCCTGCACAGAGGCTGGGGCGGGACACGGGGCGGCAGTGAGGGGATGTGGCTGGTTGAACAGTGTTGAGCATGTTGAAGCTGGGAAGCTGGGGTCAGGTCCCGGGAGCTGGGGGGGGCTTCCGAGGAGGGGAAGGTTTGGGGAAGTGGGCCCCAGTCCCTGAGGGTGGGAGGGATTGGGGCCAAGAAACCGGGGATGGAGGAGCCCAGGTTGGAGACGTTTGGAACTGCTGGAGGGGCAGCAGCAAGTACGGAAGAGGGTGAGCCGGGACACAGACAGGGACTGACTAGAGGCTCACTGGGAGGCCACCAGAGAGGCCAGGACCTGCCTCACGGGGGGAAGGAAAGGTCACAGCAGTCAGAGGACCCACAGGGCTCTGCAGCATGGGAGGACGTGGGGCACAGGCAGTCAGACTGGGGCGCATCCCCGCAGACCCGCCCCCCCAACCAGACCCAGGAAGCCCCGGCCAGGCCTGTGGGGGGCGTTAACCCCGCTCTACAGACGGGGAAACCAAGGCTAGGAGAACTGTCACTTGCCCAAGACAGCAGGCTCCGGTGATGGAGCCAGGATTCCAAACCAGAAGTCCCACTCCCACCAGTCCCTAAGCACATGAAGTCCAGGCTGAGTTTGGGGACAGCCTTGCCTGGAGGTGAGAAGAAGAATCATAGCTACAGGGAAACTAGCACAGGGCCTTGGCCCCAGGGATGTGGAGGAGACGGGGAAGGCCGCATCGGCCCCGCCTCTGCTGGAGCTGTGAGGTGTGGGGGGTGCGGGGCCTTTGCTTGCTGTACATGCAGATGAGACGCCTACCCCCAGGACCACCCAAACTGTTCCTTGGCTGAGGCCTGTCATAGCCCAAAGGTCACCGTGTCCTTGGAGCCAAGGCCCCAGTGGGAGGAATGAGAACCGCTTTTGTTTGGAGGGGCAGTCACGAGGCGCATGAGGCAGCCGCCCAGCCCTCACCGCCCTCCGTCTGTCTGTCCGTCTGTCTGGCCCAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCCTACAACAACGGTGAGTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTCCAGCCAGGGCTCCACCCCCACCTGGGATCCAAGCCAATCCAGCCCCCAAGGAGAGACCCACCTAGGGGCCTTCGTAGCTGGAGGCTTTGTGGTTTTCTGGGACCCCCACCGCCCACCACCCCACAAGCTCCAGCTGCCTCAGGAGCTGCCAACCTAACACCAGCTTCTGTCCCCCGGCTGCTAACAGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCAGGGTCTTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGACCGGGGTATGACCAGCTGAACTAGCACCCAGGGACCCAGTGTACCCAGCCTCTGGCCTCGTGCCCTGCTGGGGAAGGCCTCACCCAGCGAAGGCCGGAGAAGCGGTTGGGCCCTGGCACACAGGGCTGGCTCAGTGTGCGGACAGAGGAGACCACTCTGCTCCTGGGGCCAGAGGCCATTCAATAGCCTGCCTTCGTCCGGGCCCCTCCTGGGCCTCCCCGGCCAGGCACGTGGCACCGTCGCCTTGACACCGCCATCTCTTTTCTTTAAGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCAAGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGCTGACCTTGCAGCCGGGTGAGCCAAGGGCACTTTGCTGCCACCGCTGCATTCCCAGAGATCAAGCAGCCCGGTGCCGTGGCCAGTGAACTCAGAGGTGCTGGTGGACGGGCTAGGACTTTGGGGTTAGGCCATGGGGCTCTTTCTCTGAAGGCCACTTTCCTGACGTACTCTCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAGCCCTACCCAGAGTATTTCTGAGCCATGAGGGGCCCACCAGATTGGTTCTGAATTGGATTCATGCCCAGCGCATTAGCATAGTAACTCCTTTCAGATTTTTTGGAGGGACGTTTGGAAGTGGCTTACTCTCTTCTGCCCTCTCTCCTACCTCCACCTTCTCAGATTAGCCCCATCTGAGCACATCCAGCTGCTCCTTACCCAGCATCTGGAGTACAGGACATAGCTCTCTCCTGCTACCAGTCTGTGCCTTAGAGGTCTGTTAGGCCTGCCAAACGGCGACCAGCTCCCCTGGAGCGAGGGCAGGCCCCTTCCCTCTCTTTCCCCAGACACCTACTTGAGACTCACCAATTTCTGGCCTGTTCAGGAGCCTCAGATAAGTATTTGTACTTGAGACCACCTCACACAATCTGTATGGGCCCAACCCTGATCTCAAACCTCCTTCCCTCTGCCCAAAGCTGTCCTTCCTATGGCAGGAGGGGTGGGGGTCCCAGGACGTGCCTCATACATGACTTGAGCTTGTCAGTCCACTGAGTTTCCTTCTACGAGATCAACGCGAGGGGCCTGTATCTTGAATTAAAACCTACTCGCTTCCTTTCTGCACTCTGTGTGCTCGATACAGAAGGCAGGTGTGCTGGCCTTCAGAGCCAGGTGCCCTGCTCCCCTCGTGTAAGGAAGCGCATAAGGTTGTGAAGGTCACTGACCCGAGAGCGCTGCGTGCTGACCCCACACTTCACTGGGGAGCCCTCTTGGGTAGCGCGAGACGCCTACCCGCCCAGGGCCAGGTCAGTCTCCCAGGCTCCGTGTCTTCACGGTTACCAGGGCACGCCACTCAATCTGGATGTGAGCCGGGGTGGATGAGGTTCTGAAGGGCACACCAGCACTGGGAGCGGGGGCAGTGGGGGTCTTATTCTCCAGACGCTTCCTCTATCTAGTTGTAACAAACGTCAAAGAATGTCAGGTCTTGTTTCTGCAGAGCAGACTTTGGCCTGACGGGGTCCACAGACCTGTTTCACTTGCAACACCCAGTAAATGTGTTACTGGGTGCCCTACTTTAAAAATCAGAGATTTCAAATGATTGACTTTTCCGGCTGAGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACCTGACATCAGGAGTTCGAGACCAGCCTAGCCAACATTGCAAAACCCCATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGTTGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCGAAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAT
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Task1_train_23269
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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?
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Pathogenic; Congenital myasthenic syndrome 4A
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GACTTCCCAGCTGGCCCCCAGGGGGCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGCCACCCCTTCTTCCCTTCTTTCCCTCTCCCAGTTGAGACACCCCCCCAACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACAGCTTCCCCTTCCCAGGAATTGAGTGGGCCTAGCCCCTCCCCCCTTTTCTCCATTTGAGAGGAGAGTGCTTGGGGCTTGAACCCCTTACCCCACTGCTGCTGACTGGGCAGGGCCCTGGACCCCTTTATTTGCACGTCAGGGGAGCCGGCTCCCCCCTTGAATGTACCAGACCCTGGGGGGGGTCACTGGGCCCTAGATTTTTGGGGGGTCACCAGCCACTCCAGGGGCAGGGACCATTTCTTCATTTTCTGAAAGCACTTTAATGATTCCCCTTCCCCCAAACTCCAGGGAATGGAGGGGGGACCCCGCCAGCCAAAACATTCCCCCCATTCCCGACCCCCCTCTCCTCTTCTAGCCCATGCCCTTCCCCGGTGGAGGGAGGGAGCAGGGAGCCCTCACTCTCCACGCCCCTTGCTTGCATCTGTATATAGTGTGAGCAGCAAGTAACCCTTCTCCCTCCCCCCCCACCCCTCCTCAATGTAGTGGCCTTGGATATCCTGTTTGTTAATAAAGACAATTCAACCAGCTCCCACCATGCAGGCCGCATGTCCTTGCTTTCTGTCAGTACTGTAGACTAGGCAGAGAGAGCCTCCAGGGTGGGGAAGAAAGGGGCAGGGTGGGCTGGGATCTGCAATGAGTGAGCCTCATGGGGTGGGATGGGCAGTGCTGGGCCAAGAAAACCTAGAAGAAATGACTGTGGAAGGGTCAGGGCAGCCTCAGCCTTAAACCTGTGGGCCTGAGGGCCACCAGCACTGAAGGTGTTTGGTTCCCACCCGCTCCAGCAGAGCCAGACCAGGGAAGAAGAGGGTTTCCTGGCTACAGCCTCCCTGTGTGCAAGTCCTGCAAAGGGGTCTCCTGTTTGGCTATGAAATGAATATAGATAGATAGCTCACAAGCTGGCAGCCACCAGAGTCCCGTGGGGCTGAGCCTTAGAAAGGCTGGGAGGTCAGCAAGGCTGAATGAAGGGCAGTCCTTGCTTTCTGGAAGACTGGCACCTGAGAGCCTATGTGAACCCTTTCCTCCTGCTGACCCCTGGACTGCGGCCAGGCCTACACACGCCAGGGAACGGGCACACACCATTCTTGTGAAGTTCACAAACTGCAGATTGATCAGCAGGGGGAAGGGATCATAATGCCGTGGTGGCGGCAGCCTACTTTTTCAAAATCAATTTCCTACTGGAGATGGGTGGGAAATTGAAGTCGGTGCGAGCTAAGGCTGGATACACGGCGCGTAGGGGAGATCAGGCACTCGGTTGAAGTAGGCCCCGAGGAAGATGAGGCTGGAGCCCACGCTGAAGAGCACCAGAGCGGCCCAGAAGCAGATGTTGTCAAGGGCATTCCCCATGCGCACCCAGTCGGACACTTCCTGGGGAAGGGTCGGCACAGTCAGTAAAGAGGCAGCTGCAGGAGCCAGCGGCATGGGAGACAGTGGTGGGCCTCTGCCTCGCTCCACCCGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCG
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GACTTCCCAGCTGGCCCCCAGGGGGCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGCCACCCCTTCTTCCCTTCTTTCCCTCTCCCAGTTGAGACACCCCCCCAACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACAGCTTCCCCTTCCCAGGAATTGAGTGGGCCTAGCCCCTCCCCCCTTTTCTCCATTTGAGAGGAGAGTGCTTGGGGCTTGAACCCCTTACCCCACTGCTGCTGACTGGGCAGGGCCCTGGACCCCTTTATTTGCACGTCAGGGGAGCCGGCTCCCCCCTTGAATGTACCAGACCCTGGGGGGGGTCACTGGGCCCTAGATTTTTGGGGGGTCACCAGCCACTCCAGGGGCAGGGACCATTTCTTCATTTTCTGAAAGCACTTTAATGATTCCCCTTCCCCCAAACTCCAGGGAATGGAGGGGGGACCCCGCCAGCCAAAACATTCCCCCCATTCCCGACCCCCCTCTCCTCTTCTAGCCCATGCCCTTCCCCGGTGGAGGGAGGGAGCAGGGAGCCCTCACTCTCCACGCCCCTTGCTTGCATCTGTATATAGTGTGAGCAGCAAGTAACCCTTCTCCCTCCCCCCCCACCCCTCCTCAATGTAGTGGCCTTGGATATCCTGTTTGTTAATAAAGACAATTCAACCAGCTCCCACCATGCAGGCCGCATGTCCTTGCTTTCTGTCAGTACTGTAGACTAGGCAGAGAGAGCCTCCAGGGTGGGGAAGAAAGGGGCAGGGTGGGCTGGGATCTGCAATGAGTGAGCCTCATGGGGTGGGATGGGCAGTGCTGGGCCAAGAAAACCTAGAAGAAATGACTGTGGAAGGGTCAGGGCAGCCTCAGCCTTAAACCTGTGGGCCTGAGGGCCACCAGCACTGAAGGTGTTTGGTTCCCACCCGCTCCAGCAGAGCCAGACCAGGGAAGAAGAGGGTTTCCTGGCTACAGCCTCCCTGTGTGCAAGTCCTGCAAAGGGGTCTCCTGTTTGGCTATGAAATGAATATAGATAGATAGCTCACAAGCTGGCAGCCACCAGAGTCCCGTGGGGCTGAGCCTTAGAAAGGCTGGGAGGTCAGCAAGGCTGAATGAAGGGCAGTCCTTGCTTTCTGGAAGACTGGCACCTGAGAGCCTATGTGAACCCTTTCCTCCTGCTGACCCCTGGACTGCGGCCAGGCCTACACACGCCAGGGAACGGGCACACACCATTCTTGTGAAGTTCACAAACTGCAGATTGATCAGCAGGGGGAAGGGATCATAATGCCGTGGTGGCGGCAGCCTACTTTTTCAAAATCAATTTCCTACTGGAGATGGGTGGGAAATTGAAGTCGGTGCGAGCTAAGGCTGGATACACGGCGCGTAGGGGAGATCAGGCACTCGGTTGAAGTAGGCCCCGAGGAAGATGAGGCTGGAGCCCACGCTGAAGAGCACCAGAGCGGCCCAGAAGCAGATGTTGTCAAGGGCATTCCCCATGCGCACCCAGTCGGACACTTCCTGGGGAAGGGTCGGCACAGTCAGTAAAGAGGCAGCTGCAGGAGCCAGCGGCATGGGAGACAGTGGTGGGCCTCTGCCTCGCTCCACCCGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGGCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCG
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Task1_train_23270
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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.
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Pathogenic; Congenital myasthenic syndrome 4A
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GACTTCCCAGCTGGCCCCCAGGGGGCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGCCACCCCTTCTTCCCTTCTTTCCCTCTCCCAGTTGAGACACCCCCCCAACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACAGCTTCCCCTTCCCAGGAATTGAGTGGGCCTAGCCCCTCCCCCCTTTTCTCCATTTGAGAGGAGAGTGCTTGGGGCTTGAACCCCTTACCCCACTGCTGCTGACTGGGCAGGGCCCTGGACCCCTTTATTTGCACGTCAGGGGAGCCGGCTCCCCCCTTGAATGTACCAGACCCTGGGGGGGGTCACTGGGCCCTAGATTTTTGGGGGGTCACCAGCCACTCCAGGGGCAGGGACCATTTCTTCATTTTCTGAAAGCACTTTAATGATTCCCCTTCCCCCAAACTCCAGGGAATGGAGGGGGGACCCCGCCAGCCAAAACATTCCCCCCATTCCCGACCCCCCTCTCCTCTTCTAGCCCATGCCCTTCCCCGGTGGAGGGAGGGAGCAGGGAGCCCTCACTCTCCACGCCCCTTGCTTGCATCTGTATATAGTGTGAGCAGCAAGTAACCCTTCTCCCTCCCCCCCCACCCCTCCTCAATGTAGTGGCCTTGGATATCCTGTTTGTTAATAAAGACAATTCAACCAGCTCCCACCATGCAGGCCGCATGTCCTTGCTTTCTGTCAGTACTGTAGACTAGGCAGAGAGAGCCTCCAGGGTGGGGAAGAAAGGGGCAGGGTGGGCTGGGATCTGCAATGAGTGAGCCTCATGGGGTGGGATGGGCAGTGCTGGGCCAAGAAAACCTAGAAGAAATGACTGTGGAAGGGTCAGGGCAGCCTCAGCCTTAAACCTGTGGGCCTGAGGGCCACCAGCACTGAAGGTGTTTGGTTCCCACCCGCTCCAGCAGAGCCAGACCAGGGAAGAAGAGGGTTTCCTGGCTACAGCCTCCCTGTGTGCAAGTCCTGCAAAGGGGTCTCCTGTTTGGCTATGAAATGAATATAGATAGATAGCTCACAAGCTGGCAGCCACCAGAGTCCCGTGGGGCTGAGCCTTAGAAAGGCTGGGAGGTCAGCAAGGCTGAATGAAGGGCAGTCCTTGCTTTCTGGAAGACTGGCACCTGAGAGCCTATGTGAACCCTTTCCTCCTGCTGACCCCTGGACTGCGGCCAGGCCTACACACGCCAGGGAACGGGCACACACCATTCTTGTGAAGTTCACAAACTGCAGATTGATCAGCAGGGGGAAGGGATCATAATGCCGTGGTGGCGGCAGCCTACTTTTTCAAAATCAATTTCCTACTGGAGATGGGTGGGAAATTGAAGTCGGTGCGAGCTAAGGCTGGATACACGGCGCGTAGGGGAGATCAGGCACTCGGTTGAAGTAGGCCCCGAGGAAGATGAGGCTGGAGCCCACGCTGAAGAGCACCAGAGCGGCCCAGAAGCAGATGTTGTCAAGGGCATTCCCCATGCGCACCCAGTCGGACACTTCCTGGGGAAGGGTCGGCACAGTCAGTAAAGAGGCAGCTGCAGGAGCCAGCGGCATGGGAGACAGTGGTGGGCCTCTGCCTCGCTCCACCCGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCG
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GACTTCCCAGCTGGCCCCCAGGGGGCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGCCACCCCTTCTTCCCTTCTTTCCCTCTCCCAGTTGAGACACCCCCCCAACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACAGCTTCCCCTTCCCAGGAATTGAGTGGGCCTAGCCCCTCCCCCCTTTTCTCCATTTGAGAGGAGAGTGCTTGGGGCTTGAACCCCTTACCCCACTGCTGCTGACTGGGCAGGGCCCTGGACCCCTTTATTTGCACGTCAGGGGAGCCGGCTCCCCCCTTGAATGTACCAGACCCTGGGGGGGGTCACTGGGCCCTAGATTTTTGGGGGGTCACCAGCCACTCCAGGGGCAGGGACCATTTCTTCATTTTCTGAAAGCACTTTAATGATTCCCCTTCCCCCAAACTCCAGGGAATGGAGGGGGGACCCCGCCAGCCAAAACATTCCCCCCATTCCCGACCCCCCTCTCCTCTTCTAGCCCATGCCCTTCCCCGGTGGAGGGAGGGAGCAGGGAGCCCTCACTCTCCACGCCCCTTGCTTGCATCTGTATATAGTGTGAGCAGCAAGTAACCCTTCTCCCTCCCCCCCCACCCCTCCTCAATGTAGTGGCCTTGGATATCCTGTTTGTTAATAAAGACAATTCAACCAGCTCCCACCATGCAGGCCGCATGTCCTTGCTTTCTGTCAGTACTGTAGACTAGGCAGAGAGAGCCTCCAGGGTGGGGAAGAAAGGGGCAGGGTGGGCTGGGATCTGCAATGAGTGAGCCTCATGGGGTGGGATGGGCAGTGCTGGGCCAAGAAAACCTAGAAGAAATGACTGTGGAAGGGTCAGGGCAGCCTCAGCCTTAAACCTGTGGGCCTGAGGGCCACCAGCACTGAAGGTGTTTGGTTCCCACCCGCTCCAGCAGAGCCAGACCAGGGAAGAAGAGGGTTTCCTGGCTACAGCCTCCCTGTGTGCAAGTCCTGCAAAGGGGTCTCCTGTTTGGCTATGAAATGAATATAGATAGATAGCTCACAAGCTGGCAGCCACCAGAGTCCCGTGGGGCTGAGCCTTAGAAAGGCTGGGAGGTCAGCAAGGCTGAATGAAGGGCAGTCCTTGCTTTCTGGAAGACTGGCACCTGAGAGCCTATGTGAACCCTTTCCTCCTGCTGACCCCTGGACTGCGGCCAGGCCTACACACGCCAGGGAACGGGCACACACCATTCTTGTGAAGTTCACAAACTGCAGATTGATCAGCAGGGGGAAGGGATCATAATGCCGTGGTGGCGGCAGCCTACTTTTTCAAAATCAATTTCCTACTGGAGATGGGTGGGAAATTGAAGTCGGTGCGAGCTAAGGCTGGATACACGGCGCGTAGGGGAGATCAGGCACTCGGTTGAAGTAGGCCCCGAGGAAGATGAGGCTGGAGCCCACGCTGAAGAGCACCAGAGCGGCCCAGAAGCAGATGTTGTCAAGGGCATTCCCCATGCGCACCCAGTCGGACACTTCCTGGGGAAGGGTCGGCACAGTCAGTAAAGAGGCAGCTGCAGGAGCCAGCGGCATGGGAGACAGTGGTGGGCCTCTGCCTCGCTCCACCCGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGGCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCG
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Task1_train_23271
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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?
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Pathogenic; Congenital myasthenic syndrome 4C
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GACTTCCCAGCTGGCCCCCAGGGGGCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGCCACCCCTTCTTCCCTTCTTTCCCTCTCCCAGTTGAGACACCCCCCCAACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACAGCTTCCCCTTCCCAGGAATTGAGTGGGCCTAGCCCCTCCCCCCTTTTCTCCATTTGAGAGGAGAGTGCTTGGGGCTTGAACCCCTTACCCCACTGCTGCTGACTGGGCAGGGCCCTGGACCCCTTTATTTGCACGTCAGGGGAGCCGGCTCCCCCCTTGAATGTACCAGACCCTGGGGGGGGTCACTGGGCCCTAGATTTTTGGGGGGTCACCAGCCACTCCAGGGGCAGGGACCATTTCTTCATTTTCTGAAAGCACTTTAATGATTCCCCTTCCCCCAAACTCCAGGGAATGGAGGGGGGACCCCGCCAGCCAAAACATTCCCCCCATTCCCGACCCCCCTCTCCTCTTCTAGCCCATGCCCTTCCCCGGTGGAGGGAGGGAGCAGGGAGCCCTCACTCTCCACGCCCCTTGCTTGCATCTGTATATAGTGTGAGCAGCAAGTAACCCTTCTCCCTCCCCCCCCACCCCTCCTCAATGTAGTGGCCTTGGATATCCTGTTTGTTAATAAAGACAATTCAACCAGCTCCCACCATGCAGGCCGCATGTCCTTGCTTTCTGTCAGTACTGTAGACTAGGCAGAGAGAGCCTCCAGGGTGGGGAAGAAAGGGGCAGGGTGGGCTGGGATCTGCAATGAGTGAGCCTCATGGGGTGGGATGGGCAGTGCTGGGCCAAGAAAACCTAGAAGAAATGACTGTGGAAGGGTCAGGGCAGCCTCAGCCTTAAACCTGTGGGCCTGAGGGCCACCAGCACTGAAGGTGTTTGGTTCCCACCCGCTCCAGCAGAGCCAGACCAGGGAAGAAGAGGGTTTCCTGGCTACAGCCTCCCTGTGTGCAAGTCCTGCAAAGGGGTCTCCTGTTTGGCTATGAAATGAATATAGATAGATAGCTCACAAGCTGGCAGCCACCAGAGTCCCGTGGGGCTGAGCCTTAGAAAGGCTGGGAGGTCAGCAAGGCTGAATGAAGGGCAGTCCTTGCTTTCTGGAAGACTGGCACCTGAGAGCCTATGTGAACCCTTTCCTCCTGCTGACCCCTGGACTGCGGCCAGGCCTACACACGCCAGGGAACGGGCACACACCATTCTTGTGAAGTTCACAAACTGCAGATTGATCAGCAGGGGGAAGGGATCATAATGCCGTGGTGGCGGCAGCCTACTTTTTCAAAATCAATTTCCTACTGGAGATGGGTGGGAAATTGAAGTCGGTGCGAGCTAAGGCTGGATACACGGCGCGTAGGGGAGATCAGGCACTCGGTTGAAGTAGGCCCCGAGGAAGATGAGGCTGGAGCCCACGCTGAAGAGCACCAGAGCGGCCCAGAAGCAGATGTTGTCAAGGGCATTCCCCATGCGCACCCAGTCGGACACTTCCTGGGGAAGGGTCGGCACAGTCAGTAAAGAGGCAGCTGCAGGAGCCAGCGGCATGGGAGACAGTGGTGGGCCTCTGCCTCGCTCCACCCGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCG
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GACTTCCCAGCTGGCCCCCAGGGGGCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGCCACCCCTTCTTCCCTTCTTTCCCTCTCCCAGTTGAGACACCCCCCCAACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACAGCTTCCCCTTCCCAGGAATTGAGTGGGCCTAGCCCCTCCCCCCTTTTCTCCATTTGAGAGGAGAGTGCTTGGGGCTTGAACCCCTTACCCCACTGCTGCTGACTGGGCAGGGCCCTGGACCCCTTTATTTGCACGTCAGGGGAGCCGGCTCCCCCCTTGAATGTACCAGACCCTGGGGGGGGTCACTGGGCCCTAGATTTTTGGGGGGTCACCAGCCACTCCAGGGGCAGGGACCATTTCTTCATTTTCTGAAAGCACTTTAATGATTCCCCTTCCCCCAAACTCCAGGGAATGGAGGGGGGACCCCGCCAGCCAAAACATTCCCCCCATTCCCGACCCCCCTCTCCTCTTCTAGCCCATGCCCTTCCCCGGTGGAGGGAGGGAGCAGGGAGCCCTCACTCTCCACGCCCCTTGCTTGCATCTGTATATAGTGTGAGCAGCAAGTAACCCTTCTCCCTCCCCCCCCACCCCTCCTCAATGTAGTGGCCTTGGATATCCTGTTTGTTAATAAAGACAATTCAACCAGCTCCCACCATGCAGGCCGCATGTCCTTGCTTTCTGTCAGTACTGTAGACTAGGCAGAGAGAGCCTCCAGGGTGGGGAAGAAAGGGGCAGGGTGGGCTGGGATCTGCAATGAGTGAGCCTCATGGGGTGGGATGGGCAGTGCTGGGCCAAGAAAACCTAGAAGAAATGACTGTGGAAGGGTCAGGGCAGCCTCAGCCTTAAACCTGTGGGCCTGAGGGCCACCAGCACTGAAGGTGTTTGGTTCCCACCCGCTCCAGCAGAGCCAGACCAGGGAAGAAGAGGGTTTCCTGGCTACAGCCTCCCTGTGTGCAAGTCCTGCAAAGGGGTCTCCTGTTTGGCTATGAAATGAATATAGATAGATAGCTCACAAGCTGGCAGCCACCAGAGTCCCGTGGGGCTGAGCCTTAGAAAGGCTGGGAGGTCAGCAAGGCTGAATGAAGGGCAGTCCTTGCTTTCTGGAAGACTGGCACCTGAGAGCCTATGTGAACCCTTTCCTCCTGCTGACCCCTGGACTGCGGCCAGGCCTACACACGCCAGGGAACGGGCACACACCATTCTTGTGAAGTTCACAAACTGCAGATTGATCAGCAGGGGGAAGGGATCATAATGCCGTGGTGGCGGCAGCCTACTTTTTCAAAATCAATTTCCTACTGGAGATGGGTGGGAAATTGAAGTCGGTGCGAGCTAAGGCTGGATACACGGCGCGTAGGGGAGATCAGGCACTCGGTTGAAGTAGGCCCCGAGGAAGATGAGGCTGGAGCCCACGCTGAAGAGCACCAGAGCGGCCCAGAAGCAGATGTTGTCAAGGGCATTCCCCATGCGCACCCAGTCGGACACTTCCTGGGGAAGGGTCGGCACAGTCAGTAAAGAGGCAGCTGCAGGAGCCAGCGGCATGGGAGACAGTGGTGGGCCTCTGCCTCGCTCCACCCGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGGCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCG
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Task1_train_23272
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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?
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Pathogenic; Congenital myasthenic syndrome 4B
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GACTTCCCAGCTGGCCCCCAGGGGGCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGCCACCCCTTCTTCCCTTCTTTCCCTCTCCCAGTTGAGACACCCCCCCAACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACAGCTTCCCCTTCCCAGGAATTGAGTGGGCCTAGCCCCTCCCCCCTTTTCTCCATTTGAGAGGAGAGTGCTTGGGGCTTGAACCCCTTACCCCACTGCTGCTGACTGGGCAGGGCCCTGGACCCCTTTATTTGCACGTCAGGGGAGCCGGCTCCCCCCTTGAATGTACCAGACCCTGGGGGGGGTCACTGGGCCCTAGATTTTTGGGGGGTCACCAGCCACTCCAGGGGCAGGGACCATTTCTTCATTTTCTGAAAGCACTTTAATGATTCCCCTTCCCCCAAACTCCAGGGAATGGAGGGGGGACCCCGCCAGCCAAAACATTCCCCCCATTCCCGACCCCCCTCTCCTCTTCTAGCCCATGCCCTTCCCCGGTGGAGGGAGGGAGCAGGGAGCCCTCACTCTCCACGCCCCTTGCTTGCATCTGTATATAGTGTGAGCAGCAAGTAACCCTTCTCCCTCCCCCCCCACCCCTCCTCAATGTAGTGGCCTTGGATATCCTGTTTGTTAATAAAGACAATTCAACCAGCTCCCACCATGCAGGCCGCATGTCCTTGCTTTCTGTCAGTACTGTAGACTAGGCAGAGAGAGCCTCCAGGGTGGGGAAGAAAGGGGCAGGGTGGGCTGGGATCTGCAATGAGTGAGCCTCATGGGGTGGGATGGGCAGTGCTGGGCCAAGAAAACCTAGAAGAAATGACTGTGGAAGGGTCAGGGCAGCCTCAGCCTTAAACCTGTGGGCCTGAGGGCCACCAGCACTGAAGGTGTTTGGTTCCCACCCGCTCCAGCAGAGCCAGACCAGGGAAGAAGAGGGTTTCCTGGCTACAGCCTCCCTGTGTGCAAGTCCTGCAAAGGGGTCTCCTGTTTGGCTATGAAATGAATATAGATAGATAGCTCACAAGCTGGCAGCCACCAGAGTCCCGTGGGGCTGAGCCTTAGAAAGGCTGGGAGGTCAGCAAGGCTGAATGAAGGGCAGTCCTTGCTTTCTGGAAGACTGGCACCTGAGAGCCTATGTGAACCCTTTCCTCCTGCTGACCCCTGGACTGCGGCCAGGCCTACACACGCCAGGGAACGGGCACACACCATTCTTGTGAAGTTCACAAACTGCAGATTGATCAGCAGGGGGAAGGGATCATAATGCCGTGGTGGCGGCAGCCTACTTTTTCAAAATCAATTTCCTACTGGAGATGGGTGGGAAATTGAAGTCGGTGCGAGCTAAGGCTGGATACACGGCGCGTAGGGGAGATCAGGCACTCGGTTGAAGTAGGCCCCGAGGAAGATGAGGCTGGAGCCCACGCTGAAGAGCACCAGAGCGGCCCAGAAGCAGATGTTGTCAAGGGCATTCCCCATGCGCACCCAGTCGGACACTTCCTGGGGAAGGGTCGGCACAGTCAGTAAAGAGGCAGCTGCAGGAGCCAGCGGCATGGGAGACAGTGGTGGGCCTCTGCCTCGCTCCACCCGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCG
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GACTTCCCAGCTGGCCCCCAGGGGGCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGCCACCCCTTCTTCCCTTCTTTCCCTCTCCCAGTTGAGACACCCCCCCAACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACAGCTTCCCCTTCCCAGGAATTGAGTGGGCCTAGCCCCTCCCCCCTTTTCTCCATTTGAGAGGAGAGTGCTTGGGGCTTGAACCCCTTACCCCACTGCTGCTGACTGGGCAGGGCCCTGGACCCCTTTATTTGCACGTCAGGGGAGCCGGCTCCCCCCTTGAATGTACCAGACCCTGGGGGGGGTCACTGGGCCCTAGATTTTTGGGGGGTCACCAGCCACTCCAGGGGCAGGGACCATTTCTTCATTTTCTGAAAGCACTTTAATGATTCCCCTTCCCCCAAACTCCAGGGAATGGAGGGGGGACCCCGCCAGCCAAAACATTCCCCCCATTCCCGACCCCCCTCTCCTCTTCTAGCCCATGCCCTTCCCCGGTGGAGGGAGGGAGCAGGGAGCCCTCACTCTCCACGCCCCTTGCTTGCATCTGTATATAGTGTGAGCAGCAAGTAACCCTTCTCCCTCCCCCCCCACCCCTCCTCAATGTAGTGGCCTTGGATATCCTGTTTGTTAATAAAGACAATTCAACCAGCTCCCACCATGCAGGCCGCATGTCCTTGCTTTCTGTCAGTACTGTAGACTAGGCAGAGAGAGCCTCCAGGGTGGGGAAGAAAGGGGCAGGGTGGGCTGGGATCTGCAATGAGTGAGCCTCATGGGGTGGGATGGGCAGTGCTGGGCCAAGAAAACCTAGAAGAAATGACTGTGGAAGGGTCAGGGCAGCCTCAGCCTTAAACCTGTGGGCCTGAGGGCCACCAGCACTGAAGGTGTTTGGTTCCCACCCGCTCCAGCAGAGCCAGACCAGGGAAGAAGAGGGTTTCCTGGCTACAGCCTCCCTGTGTGCAAGTCCTGCAAAGGGGTCTCCTGTTTGGCTATGAAATGAATATAGATAGATAGCTCACAAGCTGGCAGCCACCAGAGTCCCGTGGGGCTGAGCCTTAGAAAGGCTGGGAGGTCAGCAAGGCTGAATGAAGGGCAGTCCTTGCTTTCTGGAAGACTGGCACCTGAGAGCCTATGTGAACCCTTTCCTCCTGCTGACCCCTGGACTGCGGCCAGGCCTACACACGCCAGGGAACGGGCACACACCATTCTTGTGAAGTTCACAAACTGCAGATTGATCAGCAGGGGGAAGGGATCATAATGCCGTGGTGGCGGCAGCCTACTTTTTCAAAATCAATTTCCTACTGGAGATGGGTGGGAAATTGAAGTCGGTGCGAGCTAAGGCTGGATACACGGCGCGTAGGGGAGATCAGGCACTCGGTTGAAGTAGGCCCCGAGGAAGATGAGGCTGGAGCCCACGCTGAAGAGCACCAGAGCGGCCCAGAAGCAGATGTTGTCAAGGGCATTCCCCATGCGCACCCAGTCGGACACTTCCTGGGGAAGGGTCGGCACAGTCAGTAAAGAGGCAGCTGCAGGAGCCAGCGGCATGGGAGACAGTGGTGGGCCTCTGCCTCGCTCCACCCGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGGCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCG
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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
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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
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GGAGCCCACGCTGAAGAGCACCAGAGCGGCCCAGAAGCAGATGTTGTCAAGGGCATTCCCCATGCGCACCCAGTCGGACACTTCCTGGGGAAGGGTCGGCACAGTCAGTAAAGAGGCAGCTGCAGGAGCCAGCGGCATGGGAGACAGTGGTGGGCCTCTGCCTCGCTCCACCCGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGGCGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGC
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Task1_train_23275
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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?
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Pathogenic; Congenital myasthenic syndrome 4A
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ACCAGAGCGGCCCAGAAGCAGATGTTGTCAAGGGCATTCCCCATGCGCACCCAGTCGGACACTTCCTGGGGAAGGGTCGGCACAGTCAGTAAAGAGGCAGCTGCAGGAGCCAGCGGCATGGGAGACAGTGGTGGGCCTCTGCCTCGCTCCACCCGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTG
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ACCAGAGCGGCCCAGAAGCAGATGTTGTCAAGGGCATTCCCCATGCGCACCCAGTCGGACACTTCCTGGGGAAGGGTCGGCACAGTCAGTAAAGAGGCAGCTGCAGGAGCCAGCGGCATGGGAGACAGTGGTGGGCCTCTGCCTCGCTCCACCCGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGAAGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTG
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Task1_train_23276
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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.
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Pathogenic; Congenital myasthenic syndrome 4A
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CGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGG
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CGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCAAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGG
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Task1_train_23277
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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?
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Pathogenic; Congenital myasthenic syndrome 4A
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CGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGG
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CGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCAAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGG
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Task1_train_23278
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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
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CGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGG
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CGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCAAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGG
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Task1_train_23279
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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?
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Pathogenic; Congenital myasthenic syndrome 4C
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CGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGG
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CGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCAAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGG
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Task1_train_23280
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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.
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Pathogenic; Congenital myasthenic syndrome 4A
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CTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGGTTCTCAGGGTTATTCTGAGCTCTGGCAGGCTTGGAGGGGGCAT
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CTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAACGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGGTTCTCAGGGTTATTCTGAGCTCTGGCAGGCTTGGAGGGGGCAT
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Task1_train_23281
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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.
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Pathogenic; Congenital myasthenic syndrome
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CTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGGTTCTCAGGGTTATTCTGAGCTCTGGCAGGCTTGGAGGGGGCAT
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CTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAACGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGGTTCTCAGGGTTATTCTGAGCTCTGGCAGGCTTGGAGGGGGCAT
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Task1_train_23282
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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?
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Pathogenic; Congenital myasthenic syndrome 4A
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TCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGGTTCTCAGGGTTATTCTGAGCTCTGGCAGGCTTGGAGGGGGCATGCCAGGGTG
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TCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGGGCTGCACCGCCCCCTCCGCGCTTACGTGGCGCAGCCGCGGGGACATGGCGTGGGTGGTGGGCGTCCGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACCTTCTGGGTAGGTCTCCTGTTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCAGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGGTTCTCAGGGTTATTCTGAGCTCTGGCAGGCTTGGAGGGGGCATGCCAGGGTG
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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.
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Pathogenic; Congenital myasthenic syndrome 4A
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TTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGGTTCTCAGGGTTATTCTGAGCTCTGGCAGGCTTGGAGGGGGCATGCCAGGGTGCCTGTGTGAGGGGGAGGAGGGTGTTAGTTCCGGGCTGTTAGGGGACTGTCACCTAATCCTCTGCTCACCCCTGCTGCAGCTGGGGACATTTTGGCTGCTTCCAGAGGCAGCTGCCCCATCCTGTGTTTCCTGCCCCTGCCCCGCCCCAGCCCAGCGTCCTTTGCCTGGTATTTGGCCAACTCCCCAGCCACAGATGTGGGCGTCTCCTGAGAGGCACCTGCAACCACAATTCTAGTAGCAGGGGGTGGGAGACACTGCTTTCAGCAGGCACTGTTGTCCTTTGAGTAAGCTGCCCTGTGTAGGTGACCCTGACTGATGAACACATCTGGGGATGTGACACACCCCTTGCCTCCCATTCTCACCCATGTGGAACACACACTATCACCACCCAAGCTCACAATGCCTTTCTTGCCGACAGAGTGGCAAAAAACAGTCTCCATAAAGACCTGATAAAGAGACAGGTGGTCACAGGGGATTAGCCCTGCGGTACAGAGATTCCATCTAGCAAAGGAGATCATGTAAAGGACCCACCTCCTTCCACAACCTGATCGCCAGGTTTGCCCATGCCCAGCCCCTCTGGGTGGGAGACTTGTTTCTCCTTGTCTATCCCTGCTGCCACCTTGTGGTCACAGATGATAGTACCGTCTTCCCATCCTACTCTCCTAAACACACACGTGCACACATACACACACACCTGATGACACCTTAATAGATCCTTTTGATGTTCCTTTTTAAAAAAAATTTTTTTGAGACCAAGTCTCGCTCTGGCGCCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCT
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TTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACAGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGGTTCTCAGGGTTATTCTGAGCTCTGGCAGGCTTGGAGGGGGCATGCCAGGGTGCCTGTGTGAGGGGGAGGAGGGTGTTAGTTCCGGGCTGTTAGGGGACTGTCACCTAATCCTCTGCTCACCCCTGCTGCAGCTGGGGACATTTTGGCTGCTTCCAGAGGCAGCTGCCCCATCCTGTGTTTCCTGCCCCTGCCCCGCCCCAGCCCAGCGTCCTTTGCCTGGTATTTGGCCAACTCCCCAGCCACAGATGTGGGCGTCTCCTGAGAGGCACCTGCAACCACAATTCTAGTAGCAGGGGGTGGGAGACACTGCTTTCAGCAGGCACTGTTGTCCTTTGAGTAAGCTGCCCTGTGTAGGTGACCCTGACTGATGAACACATCTGGGGATGTGACACACCCCTTGCCTCCCATTCTCACCCATGTGGAACACACACTATCACCACCCAAGCTCACAATGCCTTTCTTGCCGACAGAGTGGCAAAAAACAGTCTCCATAAAGACCTGATAAAGAGACAGGTGGTCACAGGGGATTAGCCCTGCGGTACAGAGATTCCATCTAGCAAAGGAGATCATGTAAAGGACCCACCTCCTTCCACAACCTGATCGCCAGGTTTGCCCATGCCCAGCCCCTCTGGGTGGGAGACTTGTTTCTCCTTGTCTATCCCTGCTGCCACCTTGTGGTCACAGATGATAGTACCGTCTTCCCATCCTACTCTCCTAAACACACACGTGCACACATACACACACACCTGATGACACCTTAATAGATCCTTTTGATGTTCCTTTTTAAAAAAAATTTTTTTGAGACCAAGTCTCGCTCTGGCGCCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCT
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Task1_train_23284
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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.
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Pathogenic; Congenital myasthenic syndrome 4C
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TTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGGTTCTCAGGGTTATTCTGAGCTCTGGCAGGCTTGGAGGGGGCATGCCAGGGTGCCTGTGTGAGGGGGAGGAGGGTGTTAGTTCCGGGCTGTTAGGGGACTGTCACCTAATCCTCTGCTCACCCCTGCTGCAGCTGGGGACATTTTGGCTGCTTCCAGAGGCAGCTGCCCCATCCTGTGTTTCCTGCCCCTGCCCCGCCCCAGCCCAGCGTCCTTTGCCTGGTATTTGGCCAACTCCCCAGCCACAGATGTGGGCGTCTCCTGAGAGGCACCTGCAACCACAATTCTAGTAGCAGGGGGTGGGAGACACTGCTTTCAGCAGGCACTGTTGTCCTTTGAGTAAGCTGCCCTGTGTAGGTGACCCTGACTGATGAACACATCTGGGGATGTGACACACCCCTTGCCTCCCATTCTCACCCATGTGGAACACACACTATCACCACCCAAGCTCACAATGCCTTTCTTGCCGACAGAGTGGCAAAAAACAGTCTCCATAAAGACCTGATAAAGAGACAGGTGGTCACAGGGGATTAGCCCTGCGGTACAGAGATTCCATCTAGCAAAGGAGATCATGTAAAGGACCCACCTCCTTCCACAACCTGATCGCCAGGTTTGCCCATGCCCAGCCCCTCTGGGTGGGAGACTTGTTTCTCCTTGTCTATCCCTGCTGCCACCTTGTGGTCACAGATGATAGTACCGTCTTCCCATCCTACTCTCCTAAACACACACGTGCACACATACACACACACCTGATGACACCTTAATAGATCCTTTTGATGTTCCTTTTTAAAAAAAATTTTTTTGAGACCAAGTCTCGCTCTGGCGCCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCT
|
TTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACAGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGGTTCTCAGGGTTATTCTGAGCTCTGGCAGGCTTGGAGGGGGCATGCCAGGGTGCCTGTGTGAGGGGGAGGAGGGTGTTAGTTCCGGGCTGTTAGGGGACTGTCACCTAATCCTCTGCTCACCCCTGCTGCAGCTGGGGACATTTTGGCTGCTTCCAGAGGCAGCTGCCCCATCCTGTGTTTCCTGCCCCTGCCCCGCCCCAGCCCAGCGTCCTTTGCCTGGTATTTGGCCAACTCCCCAGCCACAGATGTGGGCGTCTCCTGAGAGGCACCTGCAACCACAATTCTAGTAGCAGGGGGTGGGAGACACTGCTTTCAGCAGGCACTGTTGTCCTTTGAGTAAGCTGCCCTGTGTAGGTGACCCTGACTGATGAACACATCTGGGGATGTGACACACCCCTTGCCTCCCATTCTCACCCATGTGGAACACACACTATCACCACCCAAGCTCACAATGCCTTTCTTGCCGACAGAGTGGCAAAAAACAGTCTCCATAAAGACCTGATAAAGAGACAGGTGGTCACAGGGGATTAGCCCTGCGGTACAGAGATTCCATCTAGCAAAGGAGATCATGTAAAGGACCCACCTCCTTCCACAACCTGATCGCCAGGTTTGCCCATGCCCAGCCCCTCTGGGTGGGAGACTTGTTTCTCCTTGTCTATCCCTGCTGCCACCTTGTGGTCACAGATGATAGTACCGTCTTCCCATCCTACTCTCCTAAACACACACGTGCACACATACACACACACCTGATGACACCTTAATAGATCCTTTTGATGTTCCTTTTTAAAAAAAATTTTTTTGAGACCAAGTCTCGCTCTGGCGCCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCT
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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
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TTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGGTTCTCAGGGTTATTCTGAGCTCTGGCAGGCTTGGAGGGGGCATGCCAGGGTGCCTGTGTGAGGGGGAGGAGGGTGTTAGTTCCGGGCTGTTAGGGGACTGTCACCTAATCCTCTGCTCACCCCTGCTGCAGCTGGGGACATTTTGGCTGCTTCCAGAGGCAGCTGCCCCATCCTGTGTTTCCTGCCCCTGCCCCGCCCCAGCCCAGCGTCCTTTGCCTGGTATTTGGCCAACTCCCCAGCCACAGATGTGGGCGTCTCCTGAGAGGCACCTGCAACCACAATTCTAGTAGCAGGGGGTGGGAGACACTGCTTTCAGCAGGCACTGTTGTCCTTTGAGTAAGCTGCCCTGTGTAGGTGACCCTGACTGATGAACACATCTGGGGATGTGACACACCCCTTGCCTCCCATTCTCACCCATGTGGAACACACACTATCACCACCCAAGCTCACAATGCCTTTCTTGCCGACAGAGTGGCAAAAAACAGTCTCCATAAAGACCTGATAAAGAGACAGGTGGTCACAGGGGATTAGCCCTGCGGTACAGAGATTCCATCTAGCAAAGGAGATCATGTAAAGGACCCACCTCCTTCCACAACCTGATCGCCAGGTTTGCCCATGCCCAGCCCCTCTGGGTGGGAGACTTGTTTCTCCTTGTCTATCCCTGCTGCCACCTTGTGGTCACAGATGATAGTACCGTCTTCCCATCCTACTCTCCTAAACACACACGTGCACACATACACACACACCTGATGACACCTTAATAGATCCTTTTGATGTTCCTTTTTAAAAAAAATTTTTTTGAGACCAAGTCTCGCTCTGGCGCCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCT
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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?
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Pathogenic; Congenital myasthenic syndrome 4A
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TTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGGTTCTCAGGGTTATTCTGAGCTCTGGCAGGCTTGGAGGGGGCATGCCAGGGTGCCTGTGTGAGGGGGAGGAGGGTGTTAGTTCCGGGCTGTTAGGGGACTGTCACCTAATCCTCTGCTCACCCCTGCTGCAGCTGGGGACATTTTGGCTGCTTCCAGAGGCAGCTGCCCCATCCTGTGTTTCCTGCCCCTGCCCCGCCCCAGCCCAGCGTCCTTTGCCTGGTATTTGGCCAACTCCCCAGCCACAGATGTGGGCGTCTCCTGAGAGGCACCTGCAACCACAATTCTAGTAGCAGGGGGTGGGAGACACTGCTTTCAGCAGGCACTGTTGTCCTTTGAGTAAGCTGCCCTGTGTAGGTGACCCTGACTGATGAACACATCTGGGGATGTGACACACCCCTTGCCTCCCATTCTCACCCATGTGGAACACACACTATCACCACCCAAGCTCACAATGCCTTTCTTGCCGACAGAGTGGCAAAAAACAGTCTCCATAAAGACCTGATAAAGAGACAGGTGGTCACAGGGGATTAGCCCTGCGGTACAGAGATTCCATCTAGCAAAGGAGATCATGTAAAGGACCCACCTCCTTCCACAACCTGATCGCCAGGTTTGCCCATGCCCAGCCCCTCTGGGTGGGAGACTTGTTTCTCCTTGTCTATCCCTGCTGCCACCTTGTGGTCACAGATGATAGTACCGTCTTCCCATCCTACTCTCCTAAACACACACGTGCACACATACACACACACCTGATGACACCTTAATAGATCCTTTTGATGTTCCTTTTTAAAAAAAATTTTTTTGAGACCAAGTCTCGCTCTGGCGCCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCT
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TTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACAGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGGTTCTCAGGGTTATTCTGAGCTCTGGCAGGCTTGGAGGGGGCATGCCAGGGTGCCTGTGTGAGGGGGAGGAGGGTGTTAGTTCCGGGCTGTTAGGGGACTGTCACCTAATCCTCTGCTCACCCCTGCTGCAGCTGGGGACATTTTGGCTGCTTCCAGAGGCAGCTGCCCCATCCTGTGTTTCCTGCCCCTGCCCCGCCCCAGCCCAGCGTCCTTTGCCTGGTATTTGGCCAACTCCCCAGCCACAGATGTGGGCGTCTCCTGAGAGGCACCTGCAACCACAATTCTAGTAGCAGGGGGTGGGAGACACTGCTTTCAGCAGGCACTGTTGTCCTTTGAGTAAGCTGCCCTGTGTAGGTGACCCTGACTGATGAACACATCTGGGGATGTGACACACCCCTTGCCTCCCATTCTCACCCATGTGGAACACACACTATCACCACCCAAGCTCACAATGCCTTTCTTGCCGACAGAGTGGCAAAAAACAGTCTCCATAAAGACCTGATAAAGAGACAGGTGGTCACAGGGGATTAGCCCTGCGGTACAGAGATTCCATCTAGCAAAGGAGATCATGTAAAGGACCCACCTCCTTCCACAACCTGATCGCCAGGTTTGCCCATGCCCAGCCCCTCTGGGTGGGAGACTTGTTTCTCCTTGTCTATCCCTGCTGCCACCTTGTGGTCACAGATGATAGTACCGTCTTCCCATCCTACTCTCCTAAACACACACGTGCACACATACACACACACCTGATGACACCTTAATAGATCCTTTTGATGTTCCTTTTTAAAAAAAATTTTTTTGAGACCAAGTCTCGCTCTGGCGCCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCT
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Task1_train_23287
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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.
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Pathogenic; CHRNE-related disorder
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TTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGGTTCTCAGGGTTATTCTGAGCTCTGGCAGGCTTGGAGGGGGCATGCCAGGGTGCCTGTGTGAGGGGGAGGAGGGTGTTAGTTCCGGGCTGTTAGGGGACTGTCACCTAATCCTCTGCTCACCCCTGCTGCAGCTGGGGACATTTTGGCTGCTTCCAGAGGCAGCTGCCCCATCCTGTGTTTCCTGCCCCTGCCCCGCCCCAGCCCAGCGTCCTTTGCCTGGTATTTGGCCAACTCCCCAGCCACAGATGTGGGCGTCTCCTGAGAGGCACCTGCAACCACAATTCTAGTAGCAGGGGGTGGGAGACACTGCTTTCAGCAGGCACTGTTGTCCTTTGAGTAAGCTGCCCTGTGTAGGTGACCCTGACTGATGAACACATCTGGGGATGTGACACACCCCTTGCCTCCCATTCTCACCCATGTGGAACACACACTATCACCACCCAAGCTCACAATGCCTTTCTTGCCGACAGAGTGGCAAAAAACAGTCTCCATAAAGACCTGATAAAGAGACAGGTGGTCACAGGGGATTAGCCCTGCGGTACAGAGATTCCATCTAGCAAAGGAGATCATGTAAAGGACCCACCTCCTTCCACAACCTGATCGCCAGGTTTGCCCATGCCCAGCCCCTCTGGGTGGGAGACTTGTTTCTCCTTGTCTATCCCTGCTGCCACCTTGTGGTCACAGATGATAGTACCGTCTTCCCATCCTACTCTCCTAAACACACACGTGCACACATACACACACACCTGATGACACCTTAATAGATCCTTTTGATGTTCCTTTTTAAAAAAAATTTTTTTGAGACCAAGTCTCGCTCTGGCGCCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCTCTGGAGTAGCTGGGACTACAGGCGCATGCCACCATGCCCGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCAC
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TTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCAGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGGTTCTCAGGGTTATTCTGAGCTCTGGCAGGCTTGGAGGGGGCATGCCAGGGTGCCTGTGTGAGGGGGAGGAGGGTGTTAGTTCCGGGCTGTTAGGGGACTGTCACCTAATCCTCTGCTCACCCCTGCTGCAGCTGGGGACATTTTGGCTGCTTCCAGAGGCAGCTGCCCCATCCTGTGTTTCCTGCCCCTGCCCCGCCCCAGCCCAGCGTCCTTTGCCTGGTATTTGGCCAACTCCCCAGCCACAGATGTGGGCGTCTCCTGAGAGGCACCTGCAACCACAATTCTAGTAGCAGGGGGTGGGAGACACTGCTTTCAGCAGGCACTGTTGTCCTTTGAGTAAGCTGCCCTGTGTAGGTGACCCTGACTGATGAACACATCTGGGGATGTGACACACCCCTTGCCTCCCATTCTCACCCATGTGGAACACACACTATCACCACCCAAGCTCACAATGCCTTTCTTGCCGACAGAGTGGCAAAAAACAGTCTCCATAAAGACCTGATAAAGAGACAGGTGGTCACAGGGGATTAGCCCTGCGGTACAGAGATTCCATCTAGCAAAGGAGATCATGTAAAGGACCCACCTCCTTCCACAACCTGATCGCCAGGTTTGCCCATGCCCAGCCCCTCTGGGTGGGAGACTTGTTTCTCCTTGTCTATCCCTGCTGCCACCTTGTGGTCACAGATGATAGTACCGTCTTCCCATCCTACTCTCCTAAACACACACGTGCACACATACACACACACCTGATGACACCTTAATAGATCCTTTTGATGTTCCTTTTTAAAAAAAATTTTTTTGAGACCAAGTCTCGCTCTGGCGCCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCTCTGGAGTAGCTGGGACTACAGGCGCATGCCACCATGCCCGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCAC
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Task1_train_23288
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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.
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Pathogenic; Congenital myasthenic syndrome 4A
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TTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGGTTCTCAGGGTTATTCTGAGCTCTGGCAGGCTTGGAGGGGGCATGCCAGGGTGCCTGTGTGAGGGGGAGGAGGGTGTTAGTTCCGGGCTGTTAGGGGACTGTCACCTAATCCTCTGCTCACCCCTGCTGCAGCTGGGGACATTTTGGCTGCTTCCAGAGGCAGCTGCCCCATCCTGTGTTTCCTGCCCCTGCCCCGCCCCAGCCCAGCGTCCTTTGCCTGGTATTTGGCCAACTCCCCAGCCACAGATGTGGGCGTCTCCTGAGAGGCACCTGCAACCACAATTCTAGTAGCAGGGGGTGGGAGACACTGCTTTCAGCAGGCACTGTTGTCCTTTGAGTAAGCTGCCCTGTGTAGGTGACCCTGACTGATGAACACATCTGGGGATGTGACACACCCCTTGCCTCCCATTCTCACCCATGTGGAACACACACTATCACCACCCAAGCTCACAATGCCTTTCTTGCCGACAGAGTGGCAAAAAACAGTCTCCATAAAGACCTGATAAAGAGACAGGTGGTCACAGGGGATTAGCCCTGCGGTACAGAGATTCCATCTAGCAAAGGAGATCATGTAAAGGACCCACCTCCTTCCACAACCTGATCGCCAGGTTTGCCCATGCCCAGCCCCTCTGGGTGGGAGACTTGTTTCTCCTTGTCTATCCCTGCTGCCACCTTGTGGTCACAGATGATAGTACCGTCTTCCCATCCTACTCTCCTAAACACACACGTGCACACATACACACACACCTGATGACACCTTAATAGATCCTTTTGATGTTCCTTTTTAAAAAAAATTTTTTTGAGACCAAGTCTCGCTCTGGCGCCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCTCTGGAGTAGCTGGGACTACAGGCGCATGCCACCATGCCCGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCAC
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TTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCAGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGGTTCTCAGGGTTATTCTGAGCTCTGGCAGGCTTGGAGGGGGCATGCCAGGGTGCCTGTGTGAGGGGGAGGAGGGTGTTAGTTCCGGGCTGTTAGGGGACTGTCACCTAATCCTCTGCTCACCCCTGCTGCAGCTGGGGACATTTTGGCTGCTTCCAGAGGCAGCTGCCCCATCCTGTGTTTCCTGCCCCTGCCCCGCCCCAGCCCAGCGTCCTTTGCCTGGTATTTGGCCAACTCCCCAGCCACAGATGTGGGCGTCTCCTGAGAGGCACCTGCAACCACAATTCTAGTAGCAGGGGGTGGGAGACACTGCTTTCAGCAGGCACTGTTGTCCTTTGAGTAAGCTGCCCTGTGTAGGTGACCCTGACTGATGAACACATCTGGGGATGTGACACACCCCTTGCCTCCCATTCTCACCCATGTGGAACACACACTATCACCACCCAAGCTCACAATGCCTTTCTTGCCGACAGAGTGGCAAAAAACAGTCTCCATAAAGACCTGATAAAGAGACAGGTGGTCACAGGGGATTAGCCCTGCGGTACAGAGATTCCATCTAGCAAAGGAGATCATGTAAAGGACCCACCTCCTTCCACAACCTGATCGCCAGGTTTGCCCATGCCCAGCCCCTCTGGGTGGGAGACTTGTTTCTCCTTGTCTATCCCTGCTGCCACCTTGTGGTCACAGATGATAGTACCGTCTTCCCATCCTACTCTCCTAAACACACACGTGCACACATACACACACACCTGATGACACCTTAATAGATCCTTTTGATGTTCCTTTTTAAAAAAAATTTTTTTGAGACCAAGTCTCGCTCTGGCGCCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCTCTGGAGTAGCTGGGACTACAGGCGCATGCCACCATGCCCGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCAC
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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
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TTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGGTTCTCAGGGTTATTCTGAGCTCTGGCAGGCTTGGAGGGGGCATGCCAGGGTGCCTGTGTGAGGGGGAGGAGGGTGTTAGTTCCGGGCTGTTAGGGGACTGTCACCTAATCCTCTGCTCACCCCTGCTGCAGCTGGGGACATTTTGGCTGCTTCCAGAGGCAGCTGCCCCATCCTGTGTTTCCTGCCCCTGCCCCGCCCCAGCCCAGCGTCCTTTGCCTGGTATTTGGCCAACTCCCCAGCCACAGATGTGGGCGTCTCCTGAGAGGCACCTGCAACCACAATTCTAGTAGCAGGGGGTGGGAGACACTGCTTTCAGCAGGCACTGTTGTCCTTTGAGTAAGCTGCCCTGTGTAGGTGACCCTGACTGATGAACACATCTGGGGATGTGACACACCCCTTGCCTCCCATTCTCACCCATGTGGAACACACACTATCACCACCCAAGCTCACAATGCCTTTCTTGCCGACAGAGTGGCAAAAAACAGTCTCCATAAAGACCTGATAAAGAGACAGGTGGTCACAGGGGATTAGCCCTGCGGTACAGAGATTCCATCTAGCAAAGGAGATCATGTAAAGGACCCACCTCCTTCCACAACCTGATCGCCAGGTTTGCCCATGCCCAGCCCCTCTGGGTGGGAGACTTGTTTCTCCTTGTCTATCCCTGCTGCCACCTTGTGGTCACAGATGATAGTACCGTCTTCCCATCCTACTCTCCTAAACACACACGTGCACACATACACACACACCTGATGACACCTTAATAGATCCTTTTGATGTTCCTTTTTAAAAAAAATTTTTTTGAGACCAAGTCTCGCTCTGGCGCCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCTCTGGAGTAGCTGGGACTACAGGCGCATGCCACCATGCCCGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCAC
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TTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGCAGCGCGGGCCCAGCCCCAGACGGCAGGGATCCGGGTGCAGCGCTGAGCCGGGTAGCCCAAGCCGCAGGGCAGGGGGTTCGGCAAGCTGGGGCTGCGGTGGGCGCCAGCGCCCGGCTCCTAGTCCAGGGAGCATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCAGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGGTTCTCAGGGTTATTCTGAGCTCTGGCAGGCTTGGAGGGGGCATGCCAGGGTGCCTGTGTGAGGGGGAGGAGGGTGTTAGTTCCGGGCTGTTAGGGGACTGTCACCTAATCCTCTGCTCACCCCTGCTGCAGCTGGGGACATTTTGGCTGCTTCCAGAGGCAGCTGCCCCATCCTGTGTTTCCTGCCCCTGCCCCGCCCCAGCCCAGCGTCCTTTGCCTGGTATTTGGCCAACTCCCCAGCCACAGATGTGGGCGTCTCCTGAGAGGCACCTGCAACCACAATTCTAGTAGCAGGGGGTGGGAGACACTGCTTTCAGCAGGCACTGTTGTCCTTTGAGTAAGCTGCCCTGTGTAGGTGACCCTGACTGATGAACACATCTGGGGATGTGACACACCCCTTGCCTCCCATTCTCACCCATGTGGAACACACACTATCACCACCCAAGCTCACAATGCCTTTCTTGCCGACAGAGTGGCAAAAAACAGTCTCCATAAAGACCTGATAAAGAGACAGGTGGTCACAGGGGATTAGCCCTGCGGTACAGAGATTCCATCTAGCAAAGGAGATCATGTAAAGGACCCACCTCCTTCCACAACCTGATCGCCAGGTTTGCCCATGCCCAGCCCCTCTGGGTGGGAGACTTGTTTCTCCTTGTCTATCCCTGCTGCCACCTTGTGGTCACAGATGATAGTACCGTCTTCCCATCCTACTCTCCTAAACACACACGTGCACACATACACACACACCTGATGACACCTTAATAGATCCTTTTGATGTTCCTTTTTAAAAAAAATTTTTTTGAGACCAAGTCTCGCTCTGGCGCCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCTCTGGAGTAGCTGGGACTACAGGCGCATGCCACCATGCCCGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCAC
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Task1_train_23290
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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
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ATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCAGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGGTTCTCAGGGTTATTCTGAGCTCTGGCAGGCTTGGAGGGGGCATGCCAGGGTGCCTGTGTGAGGGGGAGGAGGGTGTTAGTTCCGGGCTGTTAGGGGACTGTCACCTAATCCTCTGCTCACCCCTGCTGCAGCTGGGGACATTTTGGCTGCTTCCAGAGGCAGCTGCCCCATCCTGTGTTTCCTGCCCCTGCCCCGCCCCAGCCCAGCGTCCTTTGCCTGGTATTTGGCCAACTCCCCAGCCACAGATGTGGGCGTCTCCTGAGAGGCACCTGCAACCACAATTCTAGTAGCAGGGGGTGGGAGACACTGCTTTCAGCAGGCACTGTTGTCCTTTGAGTAAGCTGCCCTGTGTAGGTGACCCTGACTGATGAACACATCTGGGGATGTGACACACCCCTTGCCTCCCATTCTCACCCATGTGGAACACACACTATCACCACCCAAGCTCACAATGCCTTTCTTGCCGACAGAGTGGCAAAAAACAGTCTCCATAAAGACCTGATAAAGAGACAGGTGGTCACAGGGGATTAGCCCTGCGGTACAGAGATTCCATCTAGCAAAGGAGATCATGTAAAGGACCCACCTCCTTCCACAACCTGATCGCCAGGTTTGCCCATGCCCAGCCCCTCTGGGTGGGAGACTTGTTTCTCCTTGTCTATCCCTGCTGCCACCTTGTGGTCACAGATGATAGTACCGTCTTCCCATCCTACTCTCCTAAACACACACGTGCACACATACACACACACCTGATGACACCTTAATAGATCCTTTTGATGTTCCTTTTTAAAAAAAATTTTTTTGAGACCAAGTCTCGCTCTGGCGCCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCTCTGGAGTAGCTGGGACTACAGGCGCATGCCACCATGCCCGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAGCCACCTACCTGGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCCAGCCTCGATGTTTTTTGTTTTTCTGTTTCTTTTTTTGTTTTTTGTTTTTTGCAGGGGGTGGGGGGACAGGATCTCACTCTGTCACCCAGACAGGAGTACAGTGGCACCACCATAGTTCACTGCGGCTCTCAAACTCCTGGGCTAAAGCGATCCTCCTGCCTCAGCTTCCCAAAGGGTTAGGATTACAGGTGTGAGCCACCACGCCCGGCCTCAGTGTTTTTTAAAGCCTTCTTGAACCATTCTAATCACCTGGAGGGGTGCTTATTTTAAATTCAGATTCCTAGGCTCCATTCCCAGAGAATTATGATTTCGGGACTAGGGTGCCAGGAATCTGTATTTTTAGGAAACTGTCCAGG
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ATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGGGGTAGGTTCGGGGCCACTGCTTACCCTGCGCCGGCAGGAAGTAGGCGAGCAGCACCAGGCCCGAGATGAGCACACAGGGCACGATGATGTTAATGACGTAGAAGAGCGGCTTCCGGCGGATGATGAGCGAGTAGATGACGTCAGTCTCCCCTGGGCCGTCGGTGGCGCCACCGTGGTGGCGGCGGATCACCCCCGGGCAGAAGTCGATGGCCCACTCGCCGTTCTCTGCGGGACGGGGGCACGGTCAGCTGGCTGTCAGAGCGGGGCGCCCGCCGAGCTGACAGCGGGCTGAAGAGGAGGCTGCGGCTGTCTGCACCAGGGTCATGGGCCGTCAGGATGGGGGCAATTACGGACAGAAAAGGGCATTCTCGTTGAGGGTATGGAAAGCCAGAAGGCAGGACTAGAGTAACAATCGAGAATGATTTCAGGACAGGGGTAAGCTAAACCCAGTTGTGGAAGTCATCCTCCAGTGTCGTTGGTCCGGGGCAAGCCCACCGTGGAAGTCCCCTCTCTGGACCCCGTCTAGAAGCGGGTTTTTCTGAGCAGGCAGGGGCTTCACCAGTATAGGCCTCTGTGTCGATGTCGATCTTGTTGATGGTCTTGCCGTCGTTGTCTACGGCAAAAGTGAACTCCACCTCTTCGGCATTGTACGTCTGAGAGCTGCGGAGCCAGGGCCGGGAGCCCACCCCAGAAGCTCTGACCTGGGCCCCGGCCTCAGGCCCAGCCCTGGAAGCTGGGATCTAGCGGGGCCGCGATCCCAAGCCCACCCCTTCACCCAAGCCCAGCCCGCACGCCTCTGTTCCCATCTGTACCTCCGGCCGCGCTGGAGCGTCCCACCCAGTGCCTACGCCTGGCTCCGCCTCCAGCGCGAAGCCCCGCCCCGAGGGCGGTGCTTCCCGGTTGGCCCCGCCCCATAAGGCCCCCCCCCAACAATAATCGTCCGGGCCTCGGAGTAGCTCTTCCCACCGGAAAATAAGCGAACAGTTCTGCCAATCGAAGGGGAAGTAGGTGACCTCCACTGCGCAGACGCTGCGGTAGATGGCCGGAGGCAGCCACGTCACGGAGCCGCCCTCGTAGACGAGCACGTTGGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGGCTCGGGGAAACCGAGCTTTTTGCACAGGTCTGCACCCTCTCAGAGTACCCCCTTCCCCAACCAAGTCCAGCCCGCACCCCAGGCCGGCTTCCCTCCAGCCTGGCGTCTGGCCCGGTTCTCACTTGTTTTCCAGCACAATCTCTGGCAGCCACACGAGTTCTGAAGGGACTCGCAGGGTTTCTATACCCCCAAAGTCGTCCTTGCTGTAGTTGAGTCGGTAATCCTGCCAATCCTAAGGGGTGGGGGATGGAAGGCCGCGTGCCCTGCATCTCCCACCTGGCGCTGCCTGGGAGGGGTTTGGGGGAAAAGGGGTGCCCTGGACAAGACCTCACACCATTCCCCAGATTTGACTCACGATTCCAATCCGGACGCTAGTGGTGAGAGTCTCCTCTTTTTCATTCTGCAGATGGGAGATGGGGATGATTGAAGTGAGATTTCAGGGCCAGAAGTGAGCTTTAGGACAGAGCTCAGCGGTTGGGGCCAGAAGTGGGATTTTTGGCTTAAGATGAGGGTGGGGGTAGCTTACCAGTGAGATGAGATTCGTCAGGGTGACCTTGAGGCTGATGGTGACAGTATCCTCAGGCTCCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGGTTCTCAGGGTTATTCTGAGCTCTGGCAGGCTTGGAGGGGGCATGCCAGGGTGCCTGTGTGAGGGGGAGGAGGGTGTTAGTTCCGGGCTGTTAGGGGACTGTCACCTAATCCTCTGCTCACCCCTGCTGCAGCTGGGGACATTTTGGCTGCTTCCAGAGGCAGCTGCCCCATCCTGTGTTTCCTGCCCCTGCCCCGCCCCAGCCCAGCGTCCTTTGCCTGGTATTTGGCCAACTCCCCAGCCACAGATGTGGGCGTCTCCTGAGAGGCACCTGCAACCACAATTCTAGTAGCAGGGGGTGGGAGACACTGCTTTCAGCAGGCACTGTTGTCCTTTGAGTAAGCTGCCCTGTGTAGGTGACCCTGACTGATGAACACATCTGGGGATGTGACACACCCCTTGCCTCCCATTCTCACCCATGTGGAACACACACTATCACCACCCAAGCTCACAATGCCTTTCTTGCCGACAGAGTGGCAAAAAACAGTCTCCATAAAGACCTGATAAAGAGACAGGTGGTCACAGGGGATTAGCCCTGCGGTACAGAGATTCCATCTAGCAAAGGAGATCATGTAAAGGACCCACCTCCTTCCACAACCTGATCGCCAGGTTTGCCCATGCCCAGCCCCTCTGGGTGGGAGACTTGTTTCTCCTTGTCTATCCCTGCTGCCACCTTGTGGTCACAGATGATAGTACCGTCTTCCCATCCTACTCTCCTAAACACACACGTGCACACATACACACACACCTGATGACACCTTAATAGATCCTTTTGATGTTCCTTTTTAAAAAAAATTTTTTTGAGACCAAGTCTCGCTCTGGCGCCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCTCTGGAGTAGCTGGGACTACAGGCGCATGCCACCATGCCCGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAGCCACCTACCTGGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCCAGCCTCGATGTTTTTTGTTTTTCTGTTTCTTTTTTTGTTTTTTGTTTTTTGCAGGGGGTGGGGGGACAGGATCTCACTCTGTCACCCAGACAGGAGTACAGTGGCACCACCATAGTTCACTGCGGCTCTCAAACTCCTGGGCTAAAGCGATCCTCCTGCCTCAGCTTCCCAAAGGGTTAGGATTACAGGTGTGAGCCACCACGCCCGGCCTCAGTGTTTTTTAAAGCCTTCTTGAACCATTCTAATCACCTGGAGGGGTGCTTATTTTAAATTCAGATTCCTAGGCTCCATTCCCAGAGAATTATGATTTCGGGACTAGGGTGCCAGGAATCTGTATTTTTAGGAAACTGTCCAGG
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Task1_train_23291
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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?
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Pathogenic; Bernard-Soulier syndrome, type A2, autosomal dominant
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GCAGAGGTGGCAGTGAGCCGAGATGGAGCCATTGCACTCCAGCCTGGGAGACAGGGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAAGGAGGAAGAGGAGGAAGAAGAAGAGGAGGAGGAGGATATGAACAAGAAACAACAACAACCTTGGACTAGGAATGCTGGCAGGATGGTGTGGATGGAGAGTAGATTTGAGAGAGACGGGAGATAAAATCACCAGGACTTGGTGATGGGGATGAAAGACGGGAGACGTTAGAGATGACTATTAGGGATTTTGTTTGTGTTGACTGAATGGTTAGGTAAATGAGTGGATGATGGTGCCACTCACCAGGCTGAGCAACACAGGAGGAGAAGCCATTTGGAGAGAGATGGTGAGTTCAGCTTTGAACATATTGTTTTGGTGTCTGTGGGACATCCAAGTAGAGATGTCCAGAAGGCAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAGAGACATAGATTTGAGAGTCATTAGGTTGTAGGTGGTGGTTGAAGGCAAGGGAATGGATGAGGATAATCTCAGGTGGTTGCATAGCGTAAGAAAAGAAGAGAATGCCGGGCGCGGTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGCTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACAC
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GCAGAGGTGGCAGTGAGCCGAGATGGAGCCATTGCACTCCAGCCTGGGAGACAGGGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAAGGAGGAAGAGGAGGAAGAAGAAGAGGAGGAGGAGGATATGAACAAGAAACAACAACAACCTTGGACTAGGAATGCTGGCAGGATGGTGTGGATGGAGAGTAGATTTGAGAGAGACGGGAGATAAAATCACCAGGACTTGGTGATGGGGATGAAAGACGGGAGACGTTAGAGATGACTATTAGGGATTTTGTTTGTGTTGACTGAATGGTTAGGTAAATGAGTGGATGATGGTGCCACTCACCAGGCTGAGCAACACAGGAGGAGAAGCCATTTGGAGAGAGATGGTGAGTTCAGCTTTGAACATATTGTTTTGGTGTCTGTGGGACATCCAAGTAGAGATGTCCAGAAGGCAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAGAGACATAGATTTGAGAGTCATTAGGTTGTAGGTGGTGGTTGAAGGCAAGGGAATGGATGAGGATAATCTCAGGTGGTTGCATAGCGTAAGAAAAGAAGAGAATGCCGGGCGCGGTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCGGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGCTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACAC
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Task1_train_23292
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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.
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Pathogenic; Bernard Soulier syndrome
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GGCAGGATGGTGTGGATGGAGAGTAGATTTGAGAGAGACGGGAGATAAAATCACCAGGACTTGGTGATGGGGATGAAAGACGGGAGACGTTAGAGATGACTATTAGGGATTTTGTTTGTGTTGACTGAATGGTTAGGTAAATGAGTGGATGATGGTGCCACTCACCAGGCTGAGCAACACAGGAGGAGAAGCCATTTGGAGAGAGATGGTGAGTTCAGCTTTGAACATATTGTTTTGGTGTCTGTGGGACATCCAAGTAGAGATGTCCAGAAGGCAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAGAGACATAGATTTGAGAGTCATTAGGTTGTAGGTGGTGGTTGAAGGCAAGGGAATGGATGAGGATAATCTCAGGTGGTTGCATAGCGTAAGAAAAGAAGAGAATGCCGGGCGCGGTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGCTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACACAGGCACACAATTTCAGTCCCAGCCAAAGCAGAAGGGGTAATGACATGGACTTGGCGGGGGGACAAGACAAAGCTCCCGATGCTGCATGGGGCGCTGCCAGATCTCACGGTGAACCATTTTGGCAGAATACAGCATGGTTCCCACATGCATCTATGCACAGAAGAAAATCTGGAAAGTGATTTA
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GGCAGGATGGTGTGGATGGAGAGTAGATTTGAGAGAGACGGGAGATAAAATCACCAGGACTTGGTGATGGGGATGAAAGACGGGAGACGTTAGAGATGACTATTAGGGATTTTGTTTGTGTTGACTGAATGGTTAGGTAAATGAGTGGATGATGGTGCCACTCACCAGGCTGAGCAACACAGGAGGAGAAGCCATTTGGAGAGAGATGGTGAGTTCAGCTTTGAACATATTGTTTTGGTGTCTGTGGGACATCCAAGTAGAGATGTCCAGAAGGCAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAGAGACATAGATTTGAGAGTCATTAGGTTGTAGGTGGTGGTTGAAGGCAAGGGAATGGATGAGGATAATCTCAGGTGGTTGCATAGCGTAAGAAAAGAAGAGAATGCCGGGCGCGGTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGCGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGCTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACACAGGCACACAATTTCAGTCCCAGCCAAAGCAGAAGGGGTAATGACATGGACTTGGCGGGGGGACAAGACAAAGCTCCCGATGCTGCATGGGGCGCTGCCAGATCTCACGGTGAACCATTTTGGCAGAATACAGCATGGTTCCCACATGCATCTATGCACAGAAGAAAATCTGGAAAGTGATTTA
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Task1_train_23293
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This variant impacts the gene GP1BA (glycoprotein Ib platelet subunit alpha) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Bernard Soulier syndrome
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ATTTGGAGAGAGATGGTGAGTTCAGCTTTGAACATATTGTTTTGGTGTCTGTGGGACATCCAAGTAGAGATGTCCAGAAGGCAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAGAGACATAGATTTGAGAGTCATTAGGTTGTAGGTGGTGGTTGAAGGCAAGGGAATGGATGAGGATAATCTCAGGTGGTTGCATAGCGTAAGAAAAGAAGAGAATGCCGGGCGCGGTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGCTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACACAGGCACACAATTTCAGTCCCAGCCAAAGCAGAAGGGGTAATGACATGGACTTGGCGGGGGGACAAGACAAAGCTCCCGATGCTGCATGGGGCGCTGCCAGATCTCACGGTGAACCATTTTGGCAGAATACAGCATGGTTCCCACATGCATCTATGCACAGAAGAAAATCTGGAAAGTGATTTATCAGGATGTGAGCACTCGTTGTGTCTGGATGTTACAAATATGGGTGGTTTTATTTTCTTTTTCCCTGTTTAGCATTTTCTAGTTTTCCACTATTATTGTATATTATCTGTATAATAAAAAATAATTTTAGGGTTGGGAGTGATGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCA
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ATTTGGAGAGAGATGGTGAGTTCAGCTTTGAACATATTGTTTTGGTGTCTGTGGGACATCCAAGTAGAGATGTCCAGAAGGCAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAGAGACATAGATTTGAGAGTCATTAGGTTGTAGGTGGTGGTTGAAGGCAAGGGAATGGATGAGGATAATCTCAGGTGGTTGCATAGCGTAAGAAAAGAAGAGAATGCCGGGCGCGGTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCCCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGCTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACACAGGCACACAATTTCAGTCCCAGCCAAAGCAGAAGGGGTAATGACATGGACTTGGCGGGGGGACAAGACAAAGCTCCCGATGCTGCATGGGGCGCTGCCAGATCTCACGGTGAACCATTTTGGCAGAATACAGCATGGTTCCCACATGCATCTATGCACAGAAGAAAATCTGGAAAGTGATTTATCAGGATGTGAGCACTCGTTGTGTCTGGATGTTACAAATATGGGTGGTTTTATTTTCTTTTTCCCTGTTTAGCATTTTCTAGTTTTCCACTATTATTGTATATTATCTGTATAATAAAAAATAATTTTAGGGTTGGGAGTGATGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCA
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Task1_train_23294
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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?
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Pathogenic; Nonarteritic anterior ischemic optic neuropathy, susceptibility to
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CAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAGAGACATAGATTTGAGAGTCATTAGGTTGTAGGTGGTGGTTGAAGGCAAGGGAATGGATGAGGATAATCTCAGGTGGTTGCATAGCGTAAGAAAAGAAGAGAATGCCGGGCGCGGTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGCTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACACAGGCACACAATTTCAGTCCCAGCCAAAGCAGAAGGGGTAATGACATGGACTTGGCGGGGGGACAAGACAAAGCTCCCGATGCTGCATGGGGCGCTGCCAGATCTCACGGTGAACCATTTTGGCAGAATACAGCATGGTTCCCACATGCATCTATGCACAGAAGAAAATCTGGAAAGTGATTTATCAGGATGTGAGCACTCGTTGTGTCTGGATGTTACAAATATGGGTGGTTTTATTTTCTTTTTCCCTGTTTAGCATTTTCTAGTTTTCCACTATTATTGTATATTATCTGTATAATAAAAAATAATTTTAGGGTTGGGAGTGATGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTAGGGAGTTCGAGACCAGCCTGGCAAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCG
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CAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAGAGACATAGATTTGAGAGTCATTAGGTTGTAGGTGGTGGTTGAAGGCAAGGGAATGGATGAGGATAATCTCAGGTGGTTGCATAGCGTAAGAAAAGAAGAGAATGCCGGGCGCGGTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGTTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACACAGGCACACAATTTCAGTCCCAGCCAAAGCAGAAGGGGTAATGACATGGACTTGGCGGGGGGACAAGACAAAGCTCCCGATGCTGCATGGGGCGCTGCCAGATCTCACGGTGAACCATTTTGGCAGAATACAGCATGGTTCCCACATGCATCTATGCACAGAAGAAAATCTGGAAAGTGATTTATCAGGATGTGAGCACTCGTTGTGTCTGGATGTTACAAATATGGGTGGTTTTATTTTCTTTTTCCCTGTTTAGCATTTTCTAGTTTTCCACTATTATTGTATATTATCTGTATAATAAAAAATAATTTTAGGGTTGGGAGTGATGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTAGGGAGTTCGAGACCAGCCTGGCAAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCG
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Task1_train_23295
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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?
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Pathogenic; Bernard-Soulier syndrome, type A2, autosomal dominant
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CAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAGAGACATAGATTTGAGAGTCATTAGGTTGTAGGTGGTGGTTGAAGGCAAGGGAATGGATGAGGATAATCTCAGGTGGTTGCATAGCGTAAGAAAAGAAGAGAATGCCGGGCGCGGTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGCTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACACAGGCACACAATTTCAGTCCCAGCCAAAGCAGAAGGGGTAATGACATGGACTTGGCGGGGGGACAAGACAAAGCTCCCGATGCTGCATGGGGCGCTGCCAGATCTCACGGTGAACCATTTTGGCAGAATACAGCATGGTTCCCACATGCATCTATGCACAGAAGAAAATCTGGAAAGTGATTTATCAGGATGTGAGCACTCGTTGTGTCTGGATGTTACAAATATGGGTGGTTTTATTTTCTTTTTCCCTGTTTAGCATTTTCTAGTTTTCCACTATTATTGTATATTATCTGTATAATAAAAAATAATTTTAGGGTTGGGAGTGATGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTAGGGAGTTCGAGACCAGCCTGGCAAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCG
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CAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAGAGACATAGATTTGAGAGTCATTAGGTTGTAGGTGGTGGTTGAAGGCAAGGGAATGGATGAGGATAATCTCAGGTGGTTGCATAGCGTAAGAAAAGAAGAGAATGCCGGGCGCGGTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGTTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACACAGGCACACAATTTCAGTCCCAGCCAAAGCAGAAGGGGTAATGACATGGACTTGGCGGGGGGACAAGACAAAGCTCCCGATGCTGCATGGGGCGCTGCCAGATCTCACGGTGAACCATTTTGGCAGAATACAGCATGGTTCCCACATGCATCTATGCACAGAAGAAAATCTGGAAAGTGATTTATCAGGATGTGAGCACTCGTTGTGTCTGGATGTTACAAATATGGGTGGTTTTATTTTCTTTTTCCCTGTTTAGCATTTTCTAGTTTTCCACTATTATTGTATATTATCTGTATAATAAAAAATAATTTTAGGGTTGGGAGTGATGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTAGGGAGTTCGAGACCAGCCTGGCAAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCG
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Task1_train_23296
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This gene mutation involves GP1BA (glycoprotein Ib platelet subunit alpha) on Chromosome 17. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Bernard Soulier syndrome
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CAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAGAGACATAGATTTGAGAGTCATTAGGTTGTAGGTGGTGGTTGAAGGCAAGGGAATGGATGAGGATAATCTCAGGTGGTTGCATAGCGTAAGAAAAGAAGAGAATGCCGGGCGCGGTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGCTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACACAGGCACACAATTTCAGTCCCAGCCAAAGCAGAAGGGGTAATGACATGGACTTGGCGGGGGGACAAGACAAAGCTCCCGATGCTGCATGGGGCGCTGCCAGATCTCACGGTGAACCATTTTGGCAGAATACAGCATGGTTCCCACATGCATCTATGCACAGAAGAAAATCTGGAAAGTGATTTATCAGGATGTGAGCACTCGTTGTGTCTGGATGTTACAAATATGGGTGGTTTTATTTTCTTTTTCCCTGTTTAGCATTTTCTAGTTTTCCACTATTATTGTATATTATCTGTATAATAAAAAATAATTTTAGGGTTGGGAGTGATGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTAGGGAGTTCGAGACCAGCCTGGCAAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCG
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CAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAGAGACATAGATTTGAGAGTCATTAGGTTGTAGGTGGTGGTTGAAGGCAAGGGAATGGATGAGGATAATCTCAGGTGGTTGCATAGCGTAAGAAAAGAAGAGAATGCCGGGCGCGGTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGTTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACACAGGCACACAATTTCAGTCCCAGCCAAAGCAGAAGGGGTAATGACATGGACTTGGCGGGGGGACAAGACAAAGCTCCCGATGCTGCATGGGGCGCTGCCAGATCTCACGGTGAACCATTTTGGCAGAATACAGCATGGTTCCCACATGCATCTATGCACAGAAGAAAATCTGGAAAGTGATTTATCAGGATGTGAGCACTCGTTGTGTCTGGATGTTACAAATATGGGTGGTTTTATTTTCTTTTTCCCTGTTTAGCATTTTCTAGTTTTCCACTATTATTGTATATTATCTGTATAATAAAAAATAATTTTAGGGTTGGGAGTGATGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTAGGGAGTTCGAGACCAGCCTGGCAAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCG
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Task1_train_23297
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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.
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Pathogenic; Pseudo von Willebrand disease
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CAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAGAGACATAGATTTGAGAGTCATTAGGTTGTAGGTGGTGGTTGAAGGCAAGGGAATGGATGAGGATAATCTCAGGTGGTTGCATAGCGTAAGAAAAGAAGAGAATGCCGGGCGCGGTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGCTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACACAGGCACACAATTTCAGTCCCAGCCAAAGCAGAAGGGGTAATGACATGGACTTGGCGGGGGGACAAGACAAAGCTCCCGATGCTGCATGGGGCGCTGCCAGATCTCACGGTGAACCATTTTGGCAGAATACAGCATGGTTCCCACATGCATCTATGCACAGAAGAAAATCTGGAAAGTGATTTATCAGGATGTGAGCACTCGTTGTGTCTGGATGTTACAAATATGGGTGGTTTTATTTTCTTTTTCCCTGTTTAGCATTTTCTAGTTTTCCACTATTATTGTATATTATCTGTATAATAAAAAATAATTTTAGGGTTGGGAGTGATGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTAGGGAGTTCGAGACCAGCCTGGCAAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCG
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CAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAGAGACATAGATTTGAGAGTCATTAGGTTGTAGGTGGTGGTTGAAGGCAAGGGAATGGATGAGGATAATCTCAGGTGGTTGCATAGCGTAAGAAAAGAAGAGAATGCCGGGCGCGGTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGTTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACACAGGCACACAATTTCAGTCCCAGCCAAAGCAGAAGGGGTAATGACATGGACTTGGCGGGGGGACAAGACAAAGCTCCCGATGCTGCATGGGGCGCTGCCAGATCTCACGGTGAACCATTTTGGCAGAATACAGCATGGTTCCCACATGCATCTATGCACAGAAGAAAATCTGGAAAGTGATTTATCAGGATGTGAGCACTCGTTGTGTCTGGATGTTACAAATATGGGTGGTTTTATTTTCTTTTTCCCTGTTTAGCATTTTCTAGTTTTCCACTATTATTGTATATTATCTGTATAATAAAAAATAATTTTAGGGTTGGGAGTGATGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTAGGGAGTTCGAGACCAGCCTGGCAAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCG
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Task1_train_23298
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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.
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Pathogenic; Bernard-Soulier syndrome, type A2, autosomal dominant
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CAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAGAGACATAGATTTGAGAGTCATTAGGTTGTAGGTGGTGGTTGAAGGCAAGGGAATGGATGAGGATAATCTCAGGTGGTTGCATAGCGTAAGAAAAGAAGAGAATGCCGGGCGCGGTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGCTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACACAGGCACACAATTTCAGTCCCAGCCAAAGCAGAAGGGGTAATGACATGGACTTGGCGGGGGGACAAGACAAAGCTCCCGATGCTGCATGGGGCGCTGCCAGATCTCACGGTGAACCATTTTGGCAGAATACAGCATGGTTCCCACATGCATCTATGCACAGAAGAAAATCTGGAAAGTGATTTATCAGGATGTGAGCACTCGTTGTGTCTGGATGTTACAAATATGGGTGGTTTTATTTTCTTTTTCCCTGTTTAGCATTTTCTAGTTTTCCACTATTATTGTATATTATCTGTATAATAAAAAATAATTTTAGGGTTGGGAGTGATGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTAGGGAGTTCGAGACCAGCCTGGCAAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCG
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CAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAGAGACATAGATTTGAGAGTCATTAGGTTGTAGGTGGTGGTTGAAGGCAAGGGAATGGATGAGGATAATCTCAGGTGGTTGCATAGCGTAAGAAAAGAAGAGAATGCCGGGCGCGGTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGTTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACACAGGCACACAATTTCAGTCCCAGCCAAAGCAGAAGGGGTAATGACATGGACTTGGCGGGGGGACAAGACAAAGCTCCCGATGCTGCATGGGGCGCTGCCAGATCTCACGGTGAACCATTTTGGCAGAATACAGCATGGTTCCCACATGCATCTATGCACAGAAGAAAATCTGGAAAGTGATTTATCAGGATGTGAGCACTCGTTGTGTCTGGATGTTACAAATATGGGTGGTTTTATTTTCTTTTTCCCTGTTTAGCATTTTCTAGTTTTCCACTATTATTGTATATTATCTGTATAATAAAAAATAATTTTAGGGTTGGGAGTGATGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTAGGGAGTTCGAGACCAGCCTGGCAAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCG
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Task1_train_23299
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This variant impacts the gene GP1BA (glycoprotein Ib platelet subunit alpha) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Bernard Soulier syndrome
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GTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGCTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACACAGGCACACAATTTCAGTCCCAGCCAAAGCAGAAGGGGTAATGACATGGACTTGGCGGGGGGACAAGACAAAGCTCCCGATGCTGCATGGGGCGCTGCCAGATCTCACGGTGAACCATTTTGGCAGAATACAGCATGGTTCCCACATGCATCTATGCACAGAAGAAAATCTGGAAAGTGATTTATCAGGATGTGAGCACTCGTTGTGTCTGGATGTTACAAATATGGGTGGTTTTATTTTCTTTTTCCCTGTTTAGCATTTTCTAGTTTTCCACTATTATTGTATATTATCTGTATAATAAAAAATAATTTTAGGGTTGGGAGTGATGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTAGGGAGTTCGAGACCAGCCTGGCAAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTATAACCCCAGCTACTCGGGAGGGTGGGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAAGTTGCCGTGAGCCAAGATCGTACCACTGAACTCCAGCCTGGGTAACAGAGTGAGACTCCGTCTAAAAAAAAAAAAAAAAAAAAAA
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GTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGCTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATCCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACACAGGCACACAATTTCAGTCCCAGCCAAAGCAGAAGGGGTAATGACATGGACTTGGCGGGGGGACAAGACAAAGCTCCCGATGCTGCATGGGGCGCTGCCAGATCTCACGGTGAACCATTTTGGCAGAATACAGCATGGTTCCCACATGCATCTATGCACAGAAGAAAATCTGGAAAGTGATTTATCAGGATGTGAGCACTCGTTGTGTCTGGATGTTACAAATATGGGTGGTTTTATTTTCTTTTTCCCTGTTTAGCATTTTCTAGTTTTCCACTATTATTGTATATTATCTGTATAATAAAAAATAATTTTAGGGTTGGGAGTGATGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTAGGGAGTTCGAGACCAGCCTGGCAAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTATAACCCCAGCTACTCGGGAGGGTGGGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAAGTTGCCGTGAGCCAAGATCGTACCACTGAACTCCAGCCTGGGTAACAGAGTGAGACTCCGTCTAAAAAAAAAAAAAAAAAAAAAA
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Subsets and Splits
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