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_10200
|
This is a variant in ITPR3 (inositol 1,4,5-trisphosphate receptor type 3), located on Chromosome 6. Is this mutation a likely cause of disease or not?
|
Pathogenic; Charcot-Marie-Tooth disease, demyelinating, type 1J
|
TCCCTGGAGGAGCCTTGGGAAACTGTCTGGAGCCCAGGCAGCCCTCAGGGTTCCAGTGGCAGCCCCAGTGAGAGTGGCCGGCCCAGCCCCTCAAGGTGCCATCCCTATCTCAACCCCATCCTGCAGCTCTTTGACCTCATCTACCGCGAGGAGACGCTGTTCAACGTCATCAAGAGTGTGACCCGCAATGGCCGCTCCATCCTGCTGACAGCCCTGCTGGCCCTCATCCTGGTCTACCTCTTCTCCATCGTCGGCTTCCTCTTCCTCAAGGATGACTTCATTCTCGAGGTCGACCGGCTGCCCAACAACCACTCCACAGGTCTTGGAGGCTTCCTCTCCTGGGCAGGTTGTGGGGAATGAGGTTGGGTCTCACAAATGTCTGGCGTCAGGACCAGGACCTGCAGCGCTTACCTCACCAGGCTCCCGTCTGCTTCTCCTCTTGGCTTCTGGGGACGTCTAGCTAACACCAGTCTGCCTCGCTCTTTTCTGGAACACACTGAGTGGGTGGGAGAGCCTTGGGTCTCTGGCCCCTAAGGAACCCCTTGCTTGAGGGCTGGAGTCCCTTGAACTGTCATTCATGTTAAACCCAGTATTTGCAGAAACTGCCCGTGTGCCAGGCCTAGGGGTACAGAGACCCCTCCCTGCCCTTAGTGTGCAACCCAGTCGGGGGCAGAAGCGTGATGACCCTTCACTGTGGCTGGACAGTGGAGGGCTGGCGATCCAGGACCAGGGAAGGTTTCCTGGAGGATGTGACACTGGGGACAGAGCCAGGGGATAAGGCCAGGCACTGGACCTCCTGATGATCTCATCCATATCCCCTCCAGCCAGCCCCCTGGGGATGCCACATGGAGCTGCTGCATTTGTGGACACCTGCAGTGGGGACAAGATGGACTGTGTCTCAGGGCTCTCGGTGCCTGAGGTCCTGGAAGGTGAGGGTGGTGTGTGTGCAGGAGTCTGTGTGGGGTAGGAGGAGCAGGCAGCCCGGGCCTCAGCACACTCTCCGCTTGCAGAGGACAGGGAGCTGGACAGCACAGAGCGGGCCTGTGACACTCTGTTGATGTGCATCGTCACTGTCATGAACCATGGGCTACGCAACGGTGGTGGCGTGGGCGACATTCTCCGCAAGCCCTCCAAAGATGTGAGCACTCCTGCCCACTCCCAAACCTGTGGGGCCCAAGCCACTGTCCAGATCAGCAACTGTGGAGAGTCCTGTCCTTGGCCTCGCGTCAGATATTCAGGGTTGAACCCCCTCCCCCGAACTTGTATCCACTTTTCCCTGCTTTCCACACCTGGCCAATTCCATGATATTACTGCTTAGCTGCCCCCTCACCCTCCCATTCCATAAGGAAAGACTTTGGCAACCAAACTTTGCCCCAGGGCTAGGGATGGTGACCACTGGCTTTCCTAGCCCACAGCAGGTGGGCAGAGGGCGGAGCTGAGTCAGCTTTATCAGGAGGCCTCATGATTTGGCTTGGGCAGCCACATTCCCGAATGTCAGGCCTTCCCCTGTTGCTTGGGAGTGAGAGGCCGCCTCCCTGGCCAGACAGAGGGTTTCTGGAATGTGTGAGGCCAGGCGTCCTGAGGGTGGGCAGAGGTGTTCAGAGCTGCCTCTTTCCCTCATCAATGTTAGGGGCAGAGACACACCGAGACTCGTAGCCCTACCTCCCCGCCAGACTCCTTCTGCAGGCCTCCACCCCGGCGTGTCCTGAGTCCACGCTTTCCTAACCCAAACTCAGGGCTTCTGCTTGCAATTCTTGCTCTGTGGAGCCAGGTTGGGTCCACTCTGCCATCTGATGGCCCCCAGGCCAGAGGCCCTCATTTCCTTCTGCTAGGGGCTGGGTCCTCAATATCACAGCCCTGGCCCCAACCTGAGTCCTATCTTGCCCCAGTGAATGTGGGGACCACCGGGCCCAGCCTCCCTGCCTCATCCCCTGCAGGAGTCTCTCTTCCCAGCCCGAGTGGTCTATGACCTCCTGTTCTTCTTCATCGTCATCATCATTGTGCTGAACCTCATCTTTGGGGTAATCATCGACACCTTCGCTGACCTGCGTAGTGAGAAGCAGAAGAAGGAGGAGATTCTTAAGACGACATGCTTCATCTGTGGTGAGGGCTGCTTCCTGCTCTGTGGAGGCCGCAGCGGGGCTGGAACGTCATCTGATGCCAGTGGCAGTAGCGGTTTGGCCCTTCCTGCCCTGGGGAACCCTGGCCCGGAGCTGATGACTTGATGCATTTGCTCATCCCAGAACTGGGGAGAACATGACCCTGCCTGAACTTGGAGTCAGAAAGGAGTGGGACAGGCCCATCCCTGTAAACCCTTGGGGTTTCTAGGTGAGGACATGAGCCCAGTCAGTGTCTGGAGCTTCTGGTCTCAGTCCAGTGCTTTTCCTACCCCTGAAATGAAGTGCTAGTCCCCTCACCAGCCACCTCGGGCTCAGGCAGGTGTCACCTGTATGGCCTGTAGGACCTCGCTCATTCAGCCATTCGGGCTTCCCCTGAGTTCGAGAAATTCTCGCGTTTACTCCTGGAGTCCTCGGTTGCTGCTGCGGGAGGGCTGCAGCTGCGGCAGGGCAGGATCTCCACTAAGTGGCTGCTGCTTTAAATAGAAGTGACCCAAATAGCCCAGAGCGAGCTGTTGGAAGCGCTCATCCCGAGAACAAATGCCTCCAACCCCCGGAAGCTGGGTCCCCTCCAGCAGGTGACCCTGCAGTGGCTCTTGAAGGCTGATGGTTTCATTCCCGCCCTCTGCACCCTCAGGTCTGGAGAGGGACAAGTTTGATAACAAGACAGTGTCATTTGAGGAACACATCAAGCTGGAGCACAACATGTGGAACTACTTGTACTTCATTGTGCTGGTCCGCGTGAAGAACAAGACCGACTACACGGGCCCTGAGAGCTACGTGGCCCAGATGATCAAGGTGTGAGCAGGGGCTGTGCCAGGCCTGTGGGCCCAAACCAGCCATTCTAGAGTCATCACTGTGCACCAGAGGCCTCATGGTTTTAGCTTCTGAGTACCCTGGGCCCTGGAGAGGAGTGGCCCTATCTGACTGTTGGCCCTAGGAGGCCAGGCAGAGGGGCTCGGACAGCTGCAGACACTTGTTGAAAGGTCAGCAGGGCGAGGAGCAGCAGCTGGAAGCAGCTCTGGGCTGCACGGAAGCCGCTGCTGCAGAGGGGCCTCCTCACACTTCTGGGTGTCAGGAAAAATCCCACAGCAAACCCATGCGCCCCGAAGAACACGTGTGGTATCCCTGGGCCTGTCGTGCAGTGATGCTGAGGAGGGGTGGAGTTGGGGAGACCCTGCCCGTGGCCAGTGATCTGTGGGCCGCTCTCAGGGAGTGTTTTCTAGCTCGGTGGGAAGGCAGGCTGCTTCCTAAAAAGTCTGAATTAGATGATCCTGGGCTGAAGGGGAGCCTGGAAAAACTTTAAAAATCACTTACAGAAATCAAATGTCATCTGTCCAATTTCTGTAATAATGGAGTGAAGGCAATGAATCATAAAGAAGGAATTATTTATCGTTTAGTCTGTATTTCAAACTGATCTTTGTGTACAGGTTTATCTGTTGGTCTGAGAATTCACAGCTTACTACAAGGAAGCTGAGAATTGCTTGGTGCCCCCTCCCCCCCCGACTCCTCTGTCCTGGGAAACGTGGCTTTGCCTCCCAGACACGTGTCAGATGCCAGCTCTCCTCAGCGGAGCCTCCTGATCCCTCAATTTGCCATCTGTCTGACTCGCGTCTTCCCGGGGCGTGGGGCGTGCTTGTCAGGCAGGCGGGCGGGAGGAAGGAAGGAAGGAGATCCAGGGTCTGTCTGGGTGCAGAGGCCTTCCTCCACCTCTCAGGGGGTGTTATGAGAGTAAACAGATGGTGCTGATACCAGCAAAGGACTCAAACTCAGCTGCCGACGCTGCCTAACGGAAGTCAGCCTGTCTCGGTGGCAGAGGGTTGACAAGAGGGTTGACTGCCAGCTCACTCTGGCCCCGGGGAGGACCAGGTCAATTCAGATTTTCCCATGACACATCCCTGACGAGTAGTTTTGTTAAGGGTGTGGCAGAAGCCTCCCCCCACATTACTGTTTTTCTAAATGAGGCCTTTCTAGGCCGG
|
TCCCTGGAGGAGCCTTGGGAAACTGTCTGGAGCCCAGGCAGCCCTCAGGGTTCCAGTGGCAGCCCCAGTGAGAGTGGCCGGCCCAGCCCCTCAAGGTGCCATCCCTATCTCAACCCCATCCTGCAGCTCTTTGACCTCATCTACCGCGAGGAGACGCTGTTCAACGTCATCAAGAGTGTGACCCGCAATGGCCGCTCCATCCTGCTGACAGCCCTGCTGGCCCTCATCCTGGTCTACCTCTTCTCCATCGTCGGCTTCCTCTTCCTCAAGGATGACTTCATTCTCGAGGTCGACCGGCTGCCCAACAACCACTCCACAGGTCTTGGAGGCTTCCTCTCCTGGGCAGGTTGTGGGGAATGAGGTTGGGTCTCACAAATGTCTGGCGTCAGGACCAGGACCTGCAGCGCTTACCTCACCAGGCTCCCGTCTGCTTCTCCTCTTGGCTTCTGGGGACGTCTAGCTAACACCAGTCTGCCTCGCTCTTTTCTGGAACACACTGAGTGGGTGGGAGAGCCTTGGGTCTCTGGCCCCTAAGGAACCCCTTGCTTGAGGGCTGGAGTCCCTTGAACTGTCATTCATGTTAAACCCAGTATTTGCAGAAACTGCCCGTGTGCCAGGCCTAGGGGTACAGAGACCCCTCCCTGCCCTTAGTGTGCAACCCAGTCGGGGGCAGAAGCGTGATGACCCTTCACTGTGGCTGGACAGTGGAGGGCTGGCGATCCAGGACCAGGGAAGGTTTCCTGGAGGATGTGACACTGGGGACAGAGCCAGGGGATAAGGCCAGGCACTGGACCTCCTGATGATCTCATCCATATCCCCTCCAGCCAGCCCCCTGGGGATGCCACATGGAGCTGCTGCATTTGTGGACACCTGCAGTGGGGACAAGATGGACTGTGTCTCAGGGCTCTCGGTGCCTGAGGTCCTGGAAGGTGAGGGTGGTGTGTGTGCAGGAGTCTGTGTGGGGTAGGAGGAGCAGGCAGCCCGGGCCTCAGCACACTCTCCGCTTGCAGAGGACAGGGAGCTGGACAGCACAGAGCGGGCCTGTGACACTCTGTTGATGTGCATCGTCACTGTCATGAACCATGGGCTACGCAACGGTGGTGGCGTGGGCGACATTCTCCGCAAGCCCTCCAAAGATGTGAGCACTCCTGCCCACTCCCAAACCTGTGGGGCCCAAGCCACTGTCCAGATCAGCAACTGTGGAGAGTCCTGTCCTTGGCCTCGCGTCAGATATTCAGGGTTGAACCCCCTCCCCCGAACTTGTATCCACTTTTCCCTGCTTTCCACACCTGGCCAATTCCATGATATTACTGCTTAGCTGCCCCCTCACCCTCCCATTCCATAAGGAAAGACTTTGGCAACCAAACTTTGCCCCAGGGCTAGGGATGGTGACCACTGGCTTTCCTAGCCCACAGCAGGTGGGCAGAGGGCGGAGCTGAGTCAGCTTTATCAGGAGGCCTCATGATTTGGCTTGGGCAGCCACATTCCCGAATGTCAGGCCTTCCCCTGTTGCTTGGGAGTGAGAGGCCGCCTCCCTGGCCAGACAGAGGGTTTCTGGAATGTGTGAGGCCAGGCGTCCTGAGGGTGGGCAGAGGTGTTCAGAGCTGCCTCTTTCCCTCATCAATGTTAGGGGCAGAGACACACCGAGACTCGTAGCCCTACCTCCCCGCCAGACTCCTTCTGCAGGCCTCCACCCCGGCGTGTCCTGAGTCCACGCTTTCCTAACCCAAACTCAGGGCTTCTGCTTGCAATTCTTGCTCTGTGGAGCCAGGTTGGGTCCACTCTGCCATCTGATGGCCCCCAGGCCAGAGGCCCTCATTTCCTTCTGCTAGGGGCTGGGTCCTCAATATCACAGCCCTGGCCCCAACCTGAGTCCTATCTTGCCCCAGTGAATGTGGGGACCACCGGGCCCAGCCTCCCTGCCTCATCCCCTGCAGGAGTCTCTCTTCCCAGCCCGAGTGGTCTATGACCTCCTGTTCTTCTTCATCGTCATCATCATTGTGCTGAACCTCATCTTTGGGGTAATCATCGACACCTTCGCTGACCTGTGTAGTGAGAAGCAGAAGAAGGAGGAGATTCTTAAGACGACATGCTTCATCTGTGGTGAGGGCTGCTTCCTGCTCTGTGGAGGCCGCAGCGGGGCTGGAACGTCATCTGATGCCAGTGGCAGTAGCGGTTTGGCCCTTCCTGCCCTGGGGAACCCTGGCCCGGAGCTGATGACTTGATGCATTTGCTCATCCCAGAACTGGGGAGAACATGACCCTGCCTGAACTTGGAGTCAGAAAGGAGTGGGACAGGCCCATCCCTGTAAACCCTTGGGGTTTCTAGGTGAGGACATGAGCCCAGTCAGTGTCTGGAGCTTCTGGTCTCAGTCCAGTGCTTTTCCTACCCCTGAAATGAAGTGCTAGTCCCCTCACCAGCCACCTCGGGCTCAGGCAGGTGTCACCTGTATGGCCTGTAGGACCTCGCTCATTCAGCCATTCGGGCTTCCCCTGAGTTCGAGAAATTCTCGCGTTTACTCCTGGAGTCCTCGGTTGCTGCTGCGGGAGGGCTGCAGCTGCGGCAGGGCAGGATCTCCACTAAGTGGCTGCTGCTTTAAATAGAAGTGACCCAAATAGCCCAGAGCGAGCTGTTGGAAGCGCTCATCCCGAGAACAAATGCCTCCAACCCCCGGAAGCTGGGTCCCCTCCAGCAGGTGACCCTGCAGTGGCTCTTGAAGGCTGATGGTTTCATTCCCGCCCTCTGCACCCTCAGGTCTGGAGAGGGACAAGTTTGATAACAAGACAGTGTCATTTGAGGAACACATCAAGCTGGAGCACAACATGTGGAACTACTTGTACTTCATTGTGCTGGTCCGCGTGAAGAACAAGACCGACTACACGGGCCCTGAGAGCTACGTGGCCCAGATGATCAAGGTGTGAGCAGGGGCTGTGCCAGGCCTGTGGGCCCAAACCAGCCATTCTAGAGTCATCACTGTGCACCAGAGGCCTCATGGTTTTAGCTTCTGAGTACCCTGGGCCCTGGAGAGGAGTGGCCCTATCTGACTGTTGGCCCTAGGAGGCCAGGCAGAGGGGCTCGGACAGCTGCAGACACTTGTTGAAAGGTCAGCAGGGCGAGGAGCAGCAGCTGGAAGCAGCTCTGGGCTGCACGGAAGCCGCTGCTGCAGAGGGGCCTCCTCACACTTCTGGGTGTCAGGAAAAATCCCACAGCAAACCCATGCGCCCCGAAGAACACGTGTGGTATCCCTGGGCCTGTCGTGCAGTGATGCTGAGGAGGGGTGGAGTTGGGGAGACCCTGCCCGTGGCCAGTGATCTGTGGGCCGCTCTCAGGGAGTGTTTTCTAGCTCGGTGGGAAGGCAGGCTGCTTCCTAAAAAGTCTGAATTAGATGATCCTGGGCTGAAGGGGAGCCTGGAAAAACTTTAAAAATCACTTACAGAAATCAAATGTCATCTGTCCAATTTCTGTAATAATGGAGTGAAGGCAATGAATCATAAAGAAGGAATTATTTATCGTTTAGTCTGTATTTCAAACTGATCTTTGTGTACAGGTTTATCTGTTGGTCTGAGAATTCACAGCTTACTACAAGGAAGCTGAGAATTGCTTGGTGCCCCCTCCCCCCCCGACTCCTCTGTCCTGGGAAACGTGGCTTTGCCTCCCAGACACGTGTCAGATGCCAGCTCTCCTCAGCGGAGCCTCCTGATCCCTCAATTTGCCATCTGTCTGACTCGCGTCTTCCCGGGGCGTGGGGCGTGCTTGTCAGGCAGGCGGGCGGGAGGAAGGAAGGAAGGAGATCCAGGGTCTGTCTGGGTGCAGAGGCCTTCCTCCACCTCTCAGGGGGTGTTATGAGAGTAAACAGATGGTGCTGATACCAGCAAAGGACTCAAACTCAGCTGCCGACGCTGCCTAACGGAAGTCAGCCTGTCTCGGTGGCAGAGGGTTGACAAGAGGGTTGACTGCCAGCTCACTCTGGCCCCGGGGAGGACCAGGTCAATTCAGATTTTCCCATGACACATCCCTGACGAGTAGTTTTGTTAAGGGTGTGGCAGAAGCCTCCCCCCACATTACTGTTTTTCTAAATGAGGCCTTTCTAGGCCGG
|
Task1_train_10201
|
This mutation occurs in UQCC2 (ubiquinol-cytochrome c reductase complex assembly factor 2) on Chromosome 6. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; Mitochondrial complex III deficiency nuclear type 7
|
GTTCACGGGTTTGTAGAATTGGGACTAGATAAGATTCTTGCCTTAAAGATCTTTACACTTTGGGCCAGTGAAGACCACCATGAATAATGTGAGGGCCCTGGGTATCGTATAACCTGGGCCAGACACTCCCCAGGCTGCCAGCCAATCAGCAGTACAGTCACAATGATGCCACTGGGCGTGCTCCTGCTCCTTTAGGTGGGCTGGCTTGGCTCTGTTTCGGGCTAAGCTGAAAAAAAAAAAACCCATGTTCCTTCTGTAACAAGTCTTGGCCAAGTTTCACAAGTCATTTCTTCAGACTGTGTGTATATGCATCTCATTATCTCATTTCATTTCTGGTCTCTTGCCCGAGCCCCAGGCTCAAATATAGCACTGCCTACTTGACATTGCCACTTGGAAATCAGTGTACTTGGCATCTCAGGTTTAACCTGCTTAACACCGAACTCGAGATATTCTTCCTACACTTCACCTATTCCTACCTCAGTAAATGGCACCATCTTAGACCTAGATGCCCAGGCCAAAAAATATCTAGGTGCTATCTTTGGTTCCTCTCTTTTCCTTTATCCCACATCCCATATATCAGCAAGTCCTGCTGACTCAACCTGCGCATAACCTGAATCCAACCACTTCCATCTTCTGTGCTGCCGTCCTCATCCAACCCCCCACCATCTGTCGCTTATAGTACCATAATCGGCTTCTCTCCAGCCTCTTTTTTTGTTATTGCCCCCTATAGCCCACTCACCACATACAACCAGAATAGTCTTTTAAAAAGTAAATTAGGGCACATCAGTCCCCTCACTAAACATCCCCAGTGACTTCTCACTGGCCTTATAATGAGGTCTAAAGCTAATCAGAACAGATAATATCCTACTGTGCCTGGCTCCGGACCTTCACCTTAGCAAACTCCACCTTACTTACTACCCTGCAGCCATTCTGGCTTTCTTTCTGTCCTCAAACATGTCAATCTGCCTCCTGCCTCTGGACATGTGCAGTGTCTGGAATGTCCTTCCCGCCAAGTGTACATGGCTGGCTCATCCTCTTGCCTTAGGTCTCACCTATGTGTCATCTCCTCAGAAAGGCCCCACTAATAACATTACCCTTTTATCACGCTACCCTATTTTCTATCGATCACAGTACTTATCTGTCTTACGTACACTTACCTGCTTATTGTGTCCTGAACTACAATGTAAAACTTCATGCGGGCAGGACTTCACCTGTTTAACACTGCTGTTTCCCTAGCACCGTTCCAGGCATATGGTAGGTGCTCAATAAATACGAGCTATATGAATGAATGAATCCCAGAGCTGCAGCGCCAACCTGGAGGAAAGCAAGAACATAGGCCTACTACTCACACACAGCTGCGTGAGCTGAGGACCCAAACCTGCTGCACAGGCTTACAGGGGCTCAGGAAGAACGCAAACGCTTAGCGGGGACCTGCAGAGTTAACTGGGGATTAGCTCAGTCAATACACAACACTGCGAAATAATGAGGTAATGCTACCGTGACAAGGAAGCAAAAAGCTGAGGCTGTCACCAGCTGCCACTGGTGGTGTGGGTCTCAACTCTCTCTGCACCTTGAATCACCTGGAGAGCTTTTAAAACTCTGAGGTCAAGACCCCACCCCTAGAGATTCTGCATTTGAAGTTTTTGTTTGTTTTTTGATTTGTAGAGACGGAGTCCCACTATGTTGCCCAGGAGGTCATCCTGGGCTCAAGCGATCCTCCCGCCTCGGCCTCTCAAAGAGTGCTGGAATTATAGGTGTGAACCGCCGCACCCGGCCCATCTGGAGTTTAAAAAAAGCTTCTTCGGCAATTCCAAGGTGCAGCCGGGGGAGAGCGCTGAATACAACGGGCGTCGCTATCAGTAGCTCCCTGGGGGAAAAAGGGGGTCCGCGCTCACGTGCTGCCTGGAAAGAGGGCGCGCGCATGCGCAGATCCCCCTGCTAGCGCGCTCGTTGGCCCCGCCCCTGCCTCGTCCTTTCCTCCCCTCGTCCCAGCCGCCTCCCCGCCGGTCACCTGGGTATTCTCTCCCTCCCGAAAGGCCTGTGCTACCCGCTGTCGCAGGTAAGCGCCCAAGTCCCGGCCCCGTTTGGTCTCGTCCACTGGCCATTCCTCACAGAGCTTAAGAAAACGCCGGTACCGGCTGGCCGCCATCTTGGGCCCCGCGTGTTCCCGCCTTAGCGGGAGGAGTCGGCGCCGACGAATGGCGCTTGCGCACTAAGCCTCGCCGCCTGCCTTAGGAGTGGAGCGGGAGGCCGGAGTGGGCATGCGCGACTTTGTAGGCGCACCGCTACTCTCCGTGTAGGGGCGCTGCTCGCCTTTCTCTGCAAGCCGAGCTAATTCAGTCTTCGTCCTCCTGGAACCGGCCCAGCTCCCAGGGGCAAGGCGGACGTGGAGTACCCCAGAGACAGCTTTGCGTCTCTTTTTCAATGACTGCACAAGCTTGAGACTAAAAAACCCTCCCCCGAGGCCTCCGCTGTTTTGCATAAACCAATATATTTGCATGTAAATACAGGTTACTGGATGAAAATATGTTTGAACGTTGTTCGTGGGTGCCCCCGTACCTGTCACTATCCCTTGGTACTCGGCCTCAATTCCTTCTTTAGTGCTTCCTAGTTCTTGTTCTTCTCTGCCCAGTCCCTGTTAGTATCCCTTCTGTTCCCCCCTTCCTACCCCTCATAAGCCAGACATTTTTCTCTGGGAGGCGCAGGTTTTCTAGCATGAGCAATGCCAACTGTGTTGATTCAGACTAGAAAAACTTTTTTTTTCTTTACAATTTATTATTTTGTATTGTGGTAAAATACACATAACAAAATTTACTATCTTAACCATTTTTTTTAGACAAGGTCTTGCTATGTGGCCCATGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCTGGCCTTAACCTTTTATTTATTTATTTATTTATTTTGAGATGGAGTCTTGCTCTGTGGCTCTGTCGCCCAGGCTGGTGTTCAGTGAATGGCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCATCATGCCTGGCTATGTTTTGTATTTTTAGTAGGGACAGGGTTTTACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGCGATCCACCTGCCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACGGTGCCCAGCCAGCCATTTTTAAGTGTACAGTTCATGGGTATGAAATAGCACTGAATAATGTTGTGCAGCCATCGCACCATCTCCGTAACTCTTGTAAAACTGAAACTCCATACTCATTAAACAATAAATCCCCATTTCCCCCTCTCCCCCCAGCCCCTGGCAACGACCATTCTATTTTGTCTGTATGATTTTGACTACTCTAGGTACCTCATGTAAGTGGAATCCTGCAGTATTTTTGCAACTGGCTTATTTTGCTTAGCATAATATTTTCACTTCAAGGTTCATTCATTTTGTAGCATATGTCAGAATTTCCTTCCTTTTTAAGGCTGAGTAATATTCCGTTGCATGTATATACCACATTTTGTTTACACATCCATTGATAGACACTTAGGTTGCCTCCATGTTTTAGCTCTTGTGAATAATGCTGCTATGAACATGGATGTACAGACATCTCAAGACCTTGCTTTCAATTCTTTTGGTATATACCCAGAAGCGGAATTGCTGGATCATATGGTAATTCTATTTTAAGTTTTTTGAGGAACTGCCATACTGTCTTCCACAGCAGCTGCACCATTTTGCACTCCCACCACCGGTGCACAAGGGTTCCAATTTCTCCACATCCTTACCAACATTTGTTATTTTCTGGTTTTTTGATAGTAACCATCATAATGGGTGAGGGCTGTATCTCAATGTAGCTTTGACTTGCATTTGTCTAATGATTAGTGATATTGAGTATCTTTTTATGTGCTTATCAGCCATTTGTATATCTTCAGAGAAATATCTATTCAAGTCCTTTACCTGTTTTTAATCGGGTTTTTTTTTTGTTGTTGTTGTTATTGAGTTTTAGG
|
GTTCACGGGTTTGTAGAATTGGGACTAGATAAGATTCTTGCCTTAAAGATCTTTACACTTTGGGCCAGTGAAGACCACCATGAATAATGTGAGGGCCCTGGGTATCGTATAACCTGGGCCAGACACTCCCCAGGCTGCCAGCCAATCAGCAGTACAGTCACAATGATGCCACTGGGCGTGCTCCTGCTCCTTTAGGTGGGCTGGCTTGGCTCTGTTTCGGGCTAAGCTGAAAAAAAAAAAACCCATGTTCCTTCTGTAACAAGTCTTGGCCAAGTTTCACAAGTCATTTCTTCAGACTGTGTGTATATGCATCTCATTATCTCATTTCATTTCTGGTCTCTTGCCCGAGCCCCAGGCTCAAATATAGCACTGCCTACTTGACATTGCCACTTGGAAATCAGTGTACTTGGCATCTCAGGTTTAACCTGCTTAACACCGAACTCGAGATATTCTTCCTACACTTCACCTATTCCTACCTCAGTAAATGGCACCATCTTAGACCTAGATGCCCAGGCCAAAAAATATCTAGGTGCTATCTTTGGTTCCTCTCTTTTCCTTTATCCCACATCCCATATATCAGCAAGTCCTGCTGACTCAACCTGCGCATAACCTGAATCCAACCACTTCCATCTTCTGTGCTGCCGTCCTCATCCAACCCCCCACCATCTGTCGCTTATAGTACCATAATCGGCTTCTCTCCAGCCTCTTTTTTTGTTATTGCCCCCTATAGCCCACTCACCACATACAACCAGAATAGTCTTTTAAAAAGTAAATTAGGGCACATCAGTCCCCTCACTAAACATCCCCAGTGACTTCTCACTGGCCTTATAATGAGGTCTAAAGCTAATCAGAACAGATAATATCCTACTGTGCCTGGCTCCGGACCTTCACCTTAGCAAACTCCACCTTACTTACTACCCTGCAGCCATTCTGGCTTTCTTTCTGTCCTCAAACATGTCAATCTGCCTCCTGCCTCTGGACATGTGCAGTGTCTGGAATGTCCTTCCCGCCAAGTGTACATGGCTGGCTCATCCTCTTGCCTTAGGTCTCACCTATGTGTCATCTCCTCAGAAAGGCCCCACTAATAACATTACCCTTTTATCACGCTACCCTATTTTCTATCGATCACAGTACTTATCTGTCTTACGTACACTTACCTGCTTATTGTGTCCTGAACTACAATGTAAAACTTCATGCGGGCAGGACTTCACCTGTTTAACACTGCTGTTTCCCTAGCACCGTTCCAGGCATATGGTAGGTGCTCAATAAATACGAGCTATATGAATGAATGAATCCCAGAGCTGCAGCGCCAACCTGGAGGAAAGCAAGAACATAGGCCTACTACTCACACACAGCTGCGTGAGCTGAGGACCCAAACCTGCTGCACAGGCTTACAGGGGCTCAGGAAGAACGCAAACGCTTAGCGGGGACCTGCAGAGTTAACTGGGGATTAGCTCAGTCAATACACAACACTGCGAAATAATGAGGTAATGCTACCGTGACAAGGAAGCAAAAAGCTGAGGCTGTCACCAGCTGCCACTGGTGGTGTGGGTCTCAACTCTCTCTGCACCTTGAATCACCTGGAGAGCTTTTAAAACTCTGAGGTCAAGACCCCACCCCTAGAGATTCTGCATTTGAAGTTTTTGTTTGTTTTTTGATTTGTAGAGACGGAGTCCCACTATGTTGCCCAGGAGGTCATCCTGGGCTCAAGCGATCCTCCCGCCTCGGCCTCTCAAAGAGTGCTGGAATTATAGGTGTGAACCGCCGCACCCGGCCCATCTGGAGTTTAAAAAAAGCTTCTTCGGCAATTCCAAGGTGCAGCCGGGGGAGAGCGCTGAATACAACGGGCGTCGCTATCAGTAGCTCCCTGGGGGAAAAAGGGGGTCCGCGCTCACGTGCTGCCTGGAAAGAGGGCGCGCGCATGCGCAGATCCCCCTGCTAGCGCGCTCGTTGGCCCCGCCCCTGCCTCGTCCTTTCCTCCCCTCGTCCCAGCCGCCTCCCCGCCGGTCACCTGGGTATTCTCTCCCTCCCGAAAGGCCTGTGCTACCTGCTGTCGCAGGTAAGCGCCCAAGTCCCGGCCCCGTTTGGTCTCGTCCACTGGCCATTCCTCACAGAGCTTAAGAAAACGCCGGTACCGGCTGGCCGCCATCTTGGGCCCCGCGTGTTCCCGCCTTAGCGGGAGGAGTCGGCGCCGACGAATGGCGCTTGCGCACTAAGCCTCGCCGCCTGCCTTAGGAGTGGAGCGGGAGGCCGGAGTGGGCATGCGCGACTTTGTAGGCGCACCGCTACTCTCCGTGTAGGGGCGCTGCTCGCCTTTCTCTGCAAGCCGAGCTAATTCAGTCTTCGTCCTCCTGGAACCGGCCCAGCTCCCAGGGGCAAGGCGGACGTGGAGTACCCCAGAGACAGCTTTGCGTCTCTTTTTCAATGACTGCACAAGCTTGAGACTAAAAAACCCTCCCCCGAGGCCTCCGCTGTTTTGCATAAACCAATATATTTGCATGTAAATACAGGTTACTGGATGAAAATATGTTTGAACGTTGTTCGTGGGTGCCCCCGTACCTGTCACTATCCCTTGGTACTCGGCCTCAATTCCTTCTTTAGTGCTTCCTAGTTCTTGTTCTTCTCTGCCCAGTCCCTGTTAGTATCCCTTCTGTTCCCCCCTTCCTACCCCTCATAAGCCAGACATTTTTCTCTGGGAGGCGCAGGTTTTCTAGCATGAGCAATGCCAACTGTGTTGATTCAGACTAGAAAAACTTTTTTTTTCTTTACAATTTATTATTTTGTATTGTGGTAAAATACACATAACAAAATTTACTATCTTAACCATTTTTTTTAGACAAGGTCTTGCTATGTGGCCCATGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCTGGCCTTAACCTTTTATTTATTTATTTATTTATTTTGAGATGGAGTCTTGCTCTGTGGCTCTGTCGCCCAGGCTGGTGTTCAGTGAATGGCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCATCATGCCTGGCTATGTTTTGTATTTTTAGTAGGGACAGGGTTTTACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGCGATCCACCTGCCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACGGTGCCCAGCCAGCCATTTTTAAGTGTACAGTTCATGGGTATGAAATAGCACTGAATAATGTTGTGCAGCCATCGCACCATCTCCGTAACTCTTGTAAAACTGAAACTCCATACTCATTAAACAATAAATCCCCATTTCCCCCTCTCCCCCCAGCCCCTGGCAACGACCATTCTATTTTGTCTGTATGATTTTGACTACTCTAGGTACCTCATGTAAGTGGAATCCTGCAGTATTTTTGCAACTGGCTTATTTTGCTTAGCATAATATTTTCACTTCAAGGTTCATTCATTTTGTAGCATATGTCAGAATTTCCTTCCTTTTTAAGGCTGAGTAATATTCCGTTGCATGTATATACCACATTTTGTTTACACATCCATTGATAGACACTTAGGTTGCCTCCATGTTTTAGCTCTTGTGAATAATGCTGCTATGAACATGGATGTACAGACATCTCAAGACCTTGCTTTCAATTCTTTTGGTATATACCCAGAAGCGGAATTGCTGGATCATATGGTAATTCTATTTTAAGTTTTTTGAGGAACTGCCATACTGTCTTCCACAGCAGCTGCACCATTTTGCACTCCCACCACCGGTGCACAAGGGTTCCAATTTCTCCACATCCTTACCAACATTTGTTATTTTCTGGTTTTTTGATAGTAACCATCATAATGGGTGAGGGCTGTATCTCAATGTAGCTTTGACTTGCATTTGTCTAATGATTAGTGATATTGAGTATCTTTTTATGTGCTTATCAGCCATTTGTATATCTTCAGAGAAATATCTATTCAAGTCCTTTACCTGTTTTTAATCGGGTTTTTTTTTTGTTGTTGTTGTTATTGAGTTTTAGG
|
Task1_train_10202
|
A mutation on Chromosome 6 affecting LEMD2, LOC129996186 (LEM domain nuclear envelope protein 2| ATAC-STARR-seq lymphoblastoid silent region 17057) has been found. Is it harmful or harmless? What disease, if any, does it cause?
|
Pathogenic; Cataract 46 juvenile-onset
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CAACCACTCTGAACCTCTGTCTCCTCGTCTGTAAAACGGGATCAAATGGGCCTTCCCTGCTTAACTCAGGGAGTTAGGCCCAAACAAAACAAAATATAGGAGTTTTGTAAACAATGATATGTTAAACAGAGATTAACACCGTAATGGGAGGGGAAGTCCAGGTAAATACCAGCATACATTCTAGCGCTGTTGTCTTAAAGCATCTCAGCAGTGAGTACCAGTGTGATACTGTTTGACATCACCAGTGTAGTTATAGTACCATGACACTCCCAGGTCTCCTTAATTTCTCTAGCAGGTCGACAAACTATTCACATAGTTGATAAATGCTCTCATAGTGGGGAAATCATTTGGGTGTTTGCACACGAGTCTGTTAATACCCTTGCCCACAGACTTGTACACTCCCAAACATCCATCTGCCACACCAGCTAAGACATACTTTAGCTTTTTCCTGTATTTTGGCAGTTCCTGCTAGGCATGAAAGGATGTGGCCTTGGCTGGAAGCTGGGAACAGTATTAGTCACATTCGTGCTTTGTAAAGAGTATTAAAAGTTGGTGAACTACAGTGGCCCTTTATACCTAAATGTATAATGAAATGATCTCTATGTTTCCTTTCAGAAAACACACAATCCTCAGCTATTCCGGATACATACTGTATCCTGCAGACCTCTCATTGGCATATCTAACCATGTAACTTAAATGTGGCCAGAAGGATGGCTGTGAGCATCCTTGAGTCGTAGTCTCTCTCTTAACACACTCCATGAGGGTGCTACAAGCAATGATAAGGGCCTCCAGTTGCGATCAGTTTAACCTGTCTGGCAAGCAAGGCTGGTAGATTCTCCTGTTGACAAAGCGGCGGCCCTGTGATTCAAAGAAGTGGAGAGTGGACTTTTTGGTGCTACAAAGGTGGGACCCCCAACCAGATCCTATCTGTGGGCCACTGAAATCTGGAGTGCCTTCAAACAGGCACTAAATGTGTAAGCCAGAGGTCAAAAGGGAAGAACCCAAACGGATGGGGTGAATCTGTTAGAGGGGGGTGTGGCTTCCTCTCCAGGGAGAAAACCAGAGGTTGGAGGAGCAGTGACTACAGCTTGTGATTGAAAGGGAGACGTTAGAAGGGAGGGCTGGGGCAGAAAAGGAGAACAGGAGAAAGTGAAGGCAGAAATTATTGCAGATGCAGGAGCCTTGGCCCTCTCTTCCCACAGCTGGAAGAAGGCAGGCCTGGAAATGAGAAGACAGTCAGAGGCAGCTGACAAGGCCGGAAGTGCGCGGCCTGGCGCCGACAGGAACGGGGGGTCCTCCGGCGGACACACGCGCGCCCAGGGCCCTCCCCTGCGCCGGCCCAGGACGTACTGTTGTCCTCCGCCTCCTGCGGCGCTGAGGGCTTGCCCATCTTCACCCAAAGGATGCCCAGGAAGACGAGCAGTAGCCCTAGGCTGGCCCAGAGCAGAAGCCGAGAGAGCCAGCGCTCCAGCCGGCGCCCCACCTCAGGCCGGGCCCTCGCCGCGCCAGCAGGGCCCGCTCGAGTCGCCCGCAGGCCCGGGCGCGGGTCGGGACCGAGGAGGGAGGAAGGCAGCCGCGCCGGGGCGGGAGACGCTGCCCACCAGCGGCGGGCCGCGAGACCCGGGCCCTGCGTGGCCCTGTCGGGCGTCCGGGCGTCCTCGTCCTCCTCGGAGCTGCCCCGGACCGAGGCGCGGCGCCTGAGTTGCGCCGGGCGGGCAGGATAGGCGAGGCCGCGGCTCCCTACCCAGGAAGCCGCGGAGGGCCGGATATCACCGTAGGCCCCAGGGGTCGCGTAGGCCGAGCCCGAGGCCGGCTGGGAGAGCCAGGGCTCCGCCCGCGGAGAGGCCGCGGCGGGCCGGGCGCGCAGCGGCGCATCCTCGCGTAACCGGGCCTCTTCCCGTAACCGCTCCTCGCCCCGCGGCCGGGCCTCCTCCCGCAGCCGCTCCTCGTCGCGCAGCCGGGCCTCGCCCCGCAGGCGGCGCAGCTTGTTGCGGTAGACATCCCGGGTGGTGTCGGTGATGGGTCCTGGCTGGAAGCCCAGGGCCTGCAGCTCCCGCCGCAGTTCCAGGTCCGACAGGCCGGCCATGGCCAGGACGCCGCCCCCCGCCCGCCCCTGGCGCGCACCGCACCCGGAACTGCTCCCTCCCGCAGGCGCGGCGGAGCGGGCGGGGCCACGCGCCATGATGGGAAGGTCGGTCGCCATGTTGGGAAGGTCTGCACTTGGCCTTTGGTCGGCCATGATGAGGCGGTCTGACGTGGCTCTTAGAGCCGCCATGGTGGGAAGGTCCAAGGGGGATTAAATTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTTCTCTCTCTCTCCGCTCTCCCACTTCCCTTTGTTTGTTAGATCAAGCGGTATTAATCTCTGAGTCCTCCAACCCTAGCTCTGCCTCTGGCAGGTGGTAAGCGTTCAGTAAAGTCAGCGTTGATTTAATAGATGAATTGCTTAATGGTGAACGAAGCCACTGCCACGAATGGAGAGACAGGATGATTTGCCTCTCTGGGCTTGGGGACTGATGTGTGATCCGGTTTTATTTGGGTCTTAGAGTACACTCCAGGCATGCTCCAAGACCCTGTCCCGACTTCGGGCTTGTTAACTGGGCGACACTGAGCACCAAGTAGGTGCGATCCCTGCCTTAGGACAGACACTGGCCCCCAAGGAGCGCCAGCCTGGAGGAGACGCAGCATCCATGGTGGAGGCAGAGGAGCAAAATGCCCTTGGGTTCGAATGGGCAGTTGAGGCTTCTCTGCGGAGGGCCTGTGTCTGCGTAATGGGATTTTTACAAGGAGACATGGGAGAGAGAAGACTCCAGAGATACACGGTCTTGCAGCCTCACTGGTGGTTTAGGTTGTGGGCTTTGGAGCCAGACAGTTCGATTTCAAATCCCTACTCACAACTATTAGATGTGTGATCATATTCAATTAACATTGTTAGCCTATTTGCCAGTAAACCTCAATAGAGTTGCTGTGAGGATTAGAAGAGGTAGTTTGGCTAAGGTGCTTGGGACAGTGCCTGGCACACGTTCATGCGTGTTTATACTTAACCCACATCTTTGCAGTGTCAGTGCTGTGTAGAGCCTCCCACAGGGCAGGTGATTTGGTTACATGAAGGCTCTTAGCAGGAAACCCCTAAGGGAAGCAAGGGAATGTGGCAACTGGAAATAGAACCAGTTTATAATCTTCCTTCCACATCCCTCAACTCCCATTCCCAAACATTTATTGCCGGCCCAATGGGTTCCATCCATTTCTACCCCTGCCATTCCATTCTCCCCTTCCCCCAGGCCCCTCCTCCCTGGAACTGCCCCGTATCTGTCCCAACAGCCCCCTTGCCCATTCCCCACTTTATTCCCTCCCCTCCCTGACACCCTGGGCAATGCTATGCTCCTCTGTCTGGGTTTTGCATTCCTGCCACTTGCTCCACCTCAGGGGTATTCAACACTGGCCACAATTGCTGGGAAAATGACAGCCTCGGCTTGGTCAGCTTCCACTGTTAGCCTCCCCATCTCCCCTGACTTAGCTGCTCCCATGTGGTGTGATTTCTCTCACCAAGTGTTGTTTTCCTTTTCCCTGCATGTGTTTGCACAGAATGCCATGAATTTGATATAGTGATTGCCTAACACATATACCACATAATAGTATTTTATTTCTTTCTGAAGCACTGTTTGCATGACAAATGAGTTGGTAACATTTGTGCAACTCCTTGCAGCTGTGCGGTTCAATATATAAAGAATGAGCCTTTCGGCATCAGTACTGGCCCCATGTATTCTAAGAGGGCTTGAAACTAATGCTTAAACAAAGTTATCGTTACAGCATTTCACAGAGTTATGGTCTATTTTATAACAATGGATCTCAGGGCGATTTAAAAATATGGACTGAACTGGAGCCACCCCCAGTGGTGGCACGCAATGTGGGCTTTGTCAGCTTCCTTGTGTTTGGGGACACTGCTGCCGCTCCACACACGTAGGGTCAAGTGGCCCACAGCCCCTCCCCCAGAACCCTGTTGTCTTCCCTGTGGTGTAGAACCCACTGTGCTTGGAGTTGTGGCCTTTGGCCACCCATGGTCAGCCCTTT
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CAACCACTCTGAACCTCTGTCTCCTCGTCTGTAAAACGGGATCAAATGGGCCTTCCCTGCTTAACTCAGGGAGTTAGGCCCAAACAAAACAAAATATAGGAGTTTTGTAAACAATGATATGTTAAACAGAGATTAACACCGTAATGGGAGGGGAAGTCCAGGTAAATACCAGCATACATTCTAGCGCTGTTGTCTTAAAGCATCTCAGCAGTGAGTACCAGTGTGATACTGTTTGACATCACCAGTGTAGTTATAGTACCATGACACTCCCAGGTCTCCTTAATTTCTCTAGCAGGTCGACAAACTATTCACATAGTTGATAAATGCTCTCATAGTGGGGAAATCATTTGGGTGTTTGCACACGAGTCTGTTAATACCCTTGCCCACAGACTTGTACACTCCCAAACATCCATCTGCCACACCAGCTAAGACATACTTTAGCTTTTTCCTGTATTTTGGCAGTTCCTGCTAGGCATGAAAGGATGTGGCCTTGGCTGGAAGCTGGGAACAGTATTAGTCACATTCGTGCTTTGTAAAGAGTATTAAAAGTTGGTGAACTACAGTGGCCCTTTATACCTAAATGTATAATGAAATGATCTCTATGTTTCCTTTCAGAAAACACACAATCCTCAGCTATTCCGGATACATACTGTATCCTGCAGACCTCTCATTGGCATATCTAACCATGTAACTTAAATGTGGCCAGAAGGATGGCTGTGAGCATCCTTGAGTCGTAGTCTCTCTCTTAACACACTCCATGAGGGTGCTACAAGCAATGATAAGGGCCTCCAGTTGCGATCAGTTTAACCTGTCTGGCAAGCAAGGCTGGTAGATTCTCCTGTTGACAAAGCGGCGGCCCTGTGATTCAAAGAAGTGGAGAGTGGACTTTTTGGTGCTACAAAGGTGGGACCCCCAACCAGATCCTATCTGTGGGCCACTGAAATCTGGAGTGCCTTCAAACAGGCACTAAATGTGTAAGCCAGAGGTCAAAAGGGAAGAACCCAAACGGATGGGGTGAATCTGTTAGAGGGGGGTGTGGCTTCCTCTCCAGGGAGAAAACCAGAGGTTGGAGGAGCAGTGACTACAGCTTGTGATTGAAAGGGAGACGTTAGAAGGGAGGGCTGGGGCAGAAAAGGAGAACAGGAGAAAGTGAAGGCAGAAATTATTGCAGATGCAGGAGCCTTGGCCCTCTCTTCCCACAGCTGGAAGAAGGCAGGCCTGGAAATGAGAAGACAGTCAGAGGCAGCTGACAAGGCCGGAAGTGCGCGGCCTGGCGCCGACAGGAACGGGGGGTCCTCCGGCGGACACACGCGCGCCCAGGGCCCTCCCCTGCGCCGGCCCAGGACGTACTGTTGTCCTCCGCCTCCTGCGGCGCTGAGGGCTTGCCCATCTTCACCCAAAGGATGCCCAGGAAGACGAGCAGTAGCCCTAGGCTGGCCCAGAGCAGAAGCCGAGAGAGCCAGCGCTCCAGCCGGCGCCCCACCTCAGGCCGGGCCCTCGCCGCGCCAGCAGGGCCCGCTCGAGTCGCCCGCAGGCCCGGGCGCGGGTCGGGACCGAGGAGGGAGGAAGGCAGCCGCGCCGGGGCGGGAGACGCTGCCCACCAGCGGCGGGCCGCGAGACCCGGGCCCTGCGTGGCCCTGTCGGGCGTCCGGGCGTCCTCGTCCTCCTCGGAGCTGCCCCGGACCGAGGCGCGGCGCCTGAGTTGCGCCGGGCGGGCAGGATAGGCGAGGCCGCGGCTCCCTACCCAGGAAGCCGCGGAGGGCCGGATATCACCGTAGGCCCCAGGGGTCGCGTAGGCCGAGCCCGAGGCCGGCTGGGAGAGCCAGGGCTCCGCCCGCGGAGAGGCCGCGGCGGGCCGGGCGCGCAGCGGCGCATCCTCGCGTAACCGGGCCTCTTCCCGTAACCGCTCCTCGCCCCGCGGCCGGGCCTCCTCCCGCAGCCGCTCCTCGTCGCGCAGCCGGGCCTCGCCCCGCAGGCGGCGCAGCTTGTTGCGGTAGACATCCCGGGTGGTGTCGGTGATGGGTCCTGGCTGGAAGCCCAGGGCCTGCCGCTCCCGCCGCAGTTCCAGGTCCGACAGGCCGGCCATGGCCAGGACGCCGCCCCCCGCCCGCCCCTGGCGCGCACCGCACCCGGAACTGCTCCCTCCCGCAGGCGCGGCGGAGCGGGCGGGGCCACGCGCCATGATGGGAAGGTCGGTCGCCATGTTGGGAAGGTCTGCACTTGGCCTTTGGTCGGCCATGATGAGGCGGTCTGACGTGGCTCTTAGAGCCGCCATGGTGGGAAGGTCCAAGGGGGATTAAATTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTTCTCTCTCTCTCCGCTCTCCCACTTCCCTTTGTTTGTTAGATCAAGCGGTATTAATCTCTGAGTCCTCCAACCCTAGCTCTGCCTCTGGCAGGTGGTAAGCGTTCAGTAAAGTCAGCGTTGATTTAATAGATGAATTGCTTAATGGTGAACGAAGCCACTGCCACGAATGGAGAGACAGGATGATTTGCCTCTCTGGGCTTGGGGACTGATGTGTGATCCGGTTTTATTTGGGTCTTAGAGTACACTCCAGGCATGCTCCAAGACCCTGTCCCGACTTCGGGCTTGTTAACTGGGCGACACTGAGCACCAAGTAGGTGCGATCCCTGCCTTAGGACAGACACTGGCCCCCAAGGAGCGCCAGCCTGGAGGAGACGCAGCATCCATGGTGGAGGCAGAGGAGCAAAATGCCCTTGGGTTCGAATGGGCAGTTGAGGCTTCTCTGCGGAGGGCCTGTGTCTGCGTAATGGGATTTTTACAAGGAGACATGGGAGAGAGAAGACTCCAGAGATACACGGTCTTGCAGCCTCACTGGTGGTTTAGGTTGTGGGCTTTGGAGCCAGACAGTTCGATTTCAAATCCCTACTCACAACTATTAGATGTGTGATCATATTCAATTAACATTGTTAGCCTATTTGCCAGTAAACCTCAATAGAGTTGCTGTGAGGATTAGAAGAGGTAGTTTGGCTAAGGTGCTTGGGACAGTGCCTGGCACACGTTCATGCGTGTTTATACTTAACCCACATCTTTGCAGTGTCAGTGCTGTGTAGAGCCTCCCACAGGGCAGGTGATTTGGTTACATGAAGGCTCTTAGCAGGAAACCCCTAAGGGAAGCAAGGGAATGTGGCAACTGGAAATAGAACCAGTTTATAATCTTCCTTCCACATCCCTCAACTCCCATTCCCAAACATTTATTGCCGGCCCAATGGGTTCCATCCATTTCTACCCCTGCCATTCCATTCTCCCCTTCCCCCAGGCCCCTCCTCCCTGGAACTGCCCCGTATCTGTCCCAACAGCCCCCTTGCCCATTCCCCACTTTATTCCCTCCCCTCCCTGACACCCTGGGCAATGCTATGCTCCTCTGTCTGGGTTTTGCATTCCTGCCACTTGCTCCACCTCAGGGGTATTCAACACTGGCCACAATTGCTGGGAAAATGACAGCCTCGGCTTGGTCAGCTTCCACTGTTAGCCTCCCCATCTCCCCTGACTTAGCTGCTCCCATGTGGTGTGATTTCTCTCACCAAGTGTTGTTTTCCTTTTCCCTGCATGTGTTTGCACAGAATGCCATGAATTTGATATAGTGATTGCCTAACACATATACCACATAATAGTATTTTATTTCTTTCTGAAGCACTGTTTGCATGACAAATGAGTTGGTAACATTTGTGCAACTCCTTGCAGCTGTGCGGTTCAATATATAAAGAATGAGCCTTTCGGCATCAGTACTGGCCCCATGTATTCTAAGAGGGCTTGAAACTAATGCTTAAACAAAGTTATCGTTACAGCATTTCACAGAGTTATGGTCTATTTTATAACAATGGATCTCAGGGCGATTTAAAAATATGGACTGAACTGGAGCCACCCCCAGTGGTGGCACGCAATGTGGGCTTTGTCAGCTTCCTTGTGTTTGGGGACACTGCTGCCGCTCCACACACGTAGGGTCAAGTGGCCCACAGCCCCTCCCCCAGAACCCTGTTGTCTTCCCTGTGGTGTAGAACCCACTGTGCTTGGAGTTGTGGCCTTTGGCCACCCATGGTCAGCCCTTT
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Task1_train_10203
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Gene RPS10, RPS10-NUDT3 (ribosomal protein S10| RPS10-NUDT3 readthrough), found on Chromosome 6, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Diamond-Blackfan anemia 9
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TGTCTCCTTTTTTTTTTTTTGACACAGTGTCTTGCTTTGTTGTTCAGGCTGAGTGCCATGGCCACAATCACAGCTCAATGCAGCCTGGAGTTCCTGGGCTTAACCACAGGTGTGCACCACCATGCCTGGCTAATTTATTTTTTTGTAGACGGAGTCTCACTATACTGCCTTAGCTGGTCTCAAACTCCTGGACTCAAGTAGTCTTCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGAATGAGTCACTGCACTCAGGCAGAATGAACTCCTTTTAGAGCAGAAATAAATTAATCATGTAATGAGTGGCAAAAACAAATGTCAGGCCCAACTAAATCAGAATATATCAAGCACAGATAGGCACTGGTATTTTTTTCTCCCAGGAGATTCCAAGATGTAGTAGACAACTTTTGCTAAAAAGACGTATTATGGGCTGGGCGCGGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGTGGATCACCTGAGGTCAGGAGTTCGAGCCCAGCCTGGCCAACAGAGTGAAACCCCATCTCCACTAAAAATACAAAAATTAGCTGGGTGTCGCTCTGGGCGCCTATAATCCCAGTCTCGGGAGGCTGAGACAGAATTGATTGAACCTCAGAGGTGGAAGTTGCAGTAAGCTGAGATCGCACCACTGCACTCCAGCCTCGGCAACAGAGTGAGACTCTGTCTCAAAAAATTATGTCTACCTAATCACCAGAATCCCTTGGGGAGCTTTCATAACGAATTCCTGAGCTCCATAAGGTAACTCTCCAGGGGAACCTGGGCCCTCTGATGATCACATTTAGGAATCTGCGCATTTTTTCACCTCAACCTATGCTCTCTGCAGCTCCTACAGAGTTTTGTAACAAAGAACCATAACCTAGATAAAATACAGGCCAAGCACGGTGGCTTACCACCGCACTCCAGGCTGGGCAACAGAGCAAGACTCCGTTAAAAAAAAAAAAAAAAAAAAAAAAGCAACTGTGAGCTAGCAATGATCCCAAGAATCAGAAGATAATTCTCCTCACACCACACATGCATGCATATCCTTTCACATCGTGGTATACACCATCCGTTCTCCACTCCAGTTTCTAATTTCTTCTCCTGTTGGCAAGAAAACTACAACACTCTTGTTTCTTTCGAGGTGGTAAATGGCTTTGCTTTGGACTTCTCGGGAATAGTACAACGCACTCTGCGGGAAAAGTTACTCAATATTCTATACCACATGTATCTGGATGTTTGTACAGGTGTGGGTGAAGAAAGTGACAGACTATCTGTGCTTAAGGCCATCTCATGGATGGCCTGAAGAACTGAGTCTAGTTCTATTCCAAGTCCCAAGCCATGGGACAAAGGTTCTAGCACTTGACCAAATGCCTGCAGGCCAGAGCCCTCTAAAGCTGACATCAGCTAAGAATGCTTTTGTCCCTTACACAAAAGAAACTATCTTCAAATAGCTGAAGGGATTTGTGTGGGAACCATACCTTTAGGCCGAGGCCTGCCAGTCTCTGGACGGCTACGGCGTAGGGTGGCAGGCACAATCTCCGGGGGCAGATGAAGGTAATCACGGAGATACTGGATACCCTCATTGGTAAGGTACCAGTAGAAATGTCTCCAGGCAAACTGTTCCTTCACGTAGCCTCGGGACTTGAGAGACTGTAAGGCAGAAAACTACTGTTAAGGCGTTAAGTAGAAGCTTGGATCATCCTAGGCAAGTCTCCAGTCCCAGCCAGCCCTTCAAGTTAGCAAGCAGCCCCCGCAGTCCTGACCTCCCTTTTTGAACTTGCCTTGAACCTTAGGGGAAGATCCCTCCATCCCATTCCATCCCATCCCGGGATGGGATCCCGGGGAGGAAGATCCATCCCATCTTCCTCCTCACCCTCCTACCTGCATGGCCTTCATGACATGAAGGTTGGGCACATTCTTGTCTGCCAGCTCCGGGTGCTTAGGCATGTGGACATCCTTCTTGGCCACCATGACTCCCTCCTTAAAAAGGAGTTCATAAATGGCAATCCGGTTCTTCTTAGGCATCAACATCTGCAAGAAGGAGACGATTGTCAAGAGCACTTCTGAGTAACGAGGCCGGGGCCCGGTAATCAAGTTCTTGATCCTAAAGTGACCCACACAAAACCGTAGACAACATGCTGGTGGGAAGACTCAACTCCACAAAACAGATTCGGCAGAGGCCAGCTCCGTCAGTCCCCACCCCCAAACACAATTCAGGTGGAAAAGTTGACAGTATGTTAAAACCAGGATAGTGGTGCACATTCGCGCCAAACTTCCTTAAGTTCTCATCAATTACAAAGGTCAATGGGGGGGAGAGGAGCAAACCCTGTATTATCGGGAGCAGTTGGAGGCCATCAGCGACCGTACCCAGCGCGGAATCTCGCGGCTGTACCATAAGGTACGCAGGGAAGGCCCGGAGGGGTAAAGCCCCGGCTTCTTGAAGGCGGCAGACCCCAAACCAAAGGGCTAAGGCCTTCGCACCCTCGTCTCCTACCTACCACTTCTCCCCCAAACTAGAGCTCCAGTGCCAGGCAAGGAGGCAGTCGGGGGAGTCCTGTTCCCAAGAAAAAAGCGTGTCGGTGGGACACCGTCTCGCTAGTCTCACCTGGCAAGTCTCCGCCACTCACTGGCTTCATCCTCCCCCTCTCCCTCGGACAATCTTCGCCTACCAGCGGCCCCCTACCCCATAAAATAAGCCTCCAGCCCCTATCGCTACTCAGAAATCGGTGTGTGGGGAGTGGGAGAGAGGCCCCCTGCCCGCATCCTGGGGAGAAGCAGCCGCTAAGGCGGCAGGATAGCCCGGATGGGAGCCGATGGAACTCGAACGCCACAGAAACTCACCTCTGCGGCTGCAGGGTCCGGTACCGGGGCTGGAAAGGAAGGAGCATGCGCGGTGCTGCGTCTCTTCCGGGCTGGCGTGGACCCGCCCCCCGCCAGGACCCGCGGGGAGCCTGGGGTGGCCTCGGCGGTGCCTGAAGAACTGGCGGATCTGACCACGGAGCCTGACCGCCTGAGGGACTCACGCACGCACTAGGAAACCGCCGCCGGGAACTTCTGAGCTTGCGTGCTCTATCAGTACAGGGTCACTTATTTTGGGCTGTCGTTTTAGAAACGCTTCTTCTTTTTTTCCCGGCCAAAATCTATTATGCAAGTGATATATGCTCTTGGAGCAAGAAAAGAGAGAGAACATATAAATCAGATGACGATAAAAGACTAAAAACATAATCCCATCAACCAAAGAAAATAGCTATTAACATTGTGGTATACACTTTTCCAAATTCATATGCACTCACACAAGTAGACTTTTTTTTTTTTTAATAAAAAACAGAGGCCGGGCACAGTGGCTCACGCCTATAATCTCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTTAGGGGTTCGAGACCAGCCTAGCCAATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAGCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTGCAGCCTGGGCGACAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAATTGACTCAGCATTTTGGGAGGCTGAGGCAGGAGAACTGCTTGAGCCCAGGAGGTCCAGACTAGCCTAGGCAATGGTGAGACTTCATCTCTACAATTTTTTTTTTTAATTAACTGACTGTGGTGGTGCACGCTTGTAGTCCCAGTTATTGAGGAGGCTGAGGCGGGAGGATCGCTTGAGCCAGGAAAGTGGAGGGTGCAGTGAGCCGGGTTCGTGCCCCTGCAGTCCAGCCTGGGTGACAGAGCAAGACCCTGGCTCTATTTAAATAAAAAAAAAAAAAAAAAGAGGCTGGGCGCGGCAGTTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAGGGTGGGCGGTTCACCTGAGGTCAGGAGTTCAAGACCAGCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCAGGTGTGTTGGCGTGCGCCTGTAATTCCA
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TGTCTCCTTTTTTTTTTTTTGACACAGTGTCTTGCTTTGTTGTTCAGGCTGAGTGCCATGGCCACAATCACAGCTCAATGCAGCCTGGAGTTCCTGGGCTTAACCACAGGTGTGCACCACCATGCCTGGCTAATTTATTTTTTTGTAGACGGAGTCTCACTATACTGCCTTAGCTGGTCTCAAACTCCTGGACTCAAGTAGTCTTCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGAATGAGTCACTGCACTCAGGCAGAATGAACTCCTTTTAGAGCAGAAATAAATTAATCATGTAATGAGTGGCAAAAACAAATGTCAGGCCCAACTAAATCAGAATATATCAAGCACAGATAGGCACTGGTATTTTTTTCTCCCAGGAGATTCCAAGATGTAGTAGACAACTTTTGCTAAAAAGACGTATTATGGGCTGGGCGCGGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGTGGATCACCTGAGGTCAGGAGTTCGAGCCCAGCCTGGCCAACAGAGTGAAACCCCATCTCCACTAAAAATACAAAAATTAGCTGGGTGTCGCTCTGGGCGCCTATAATCCCAGTCTCGGGAGGCTGAGACAGAATTGATTGAACCTCAGAGGTGGAAGTTGCAGTAAGCTGAGATCGCACCACTGCACTCCAGCCTCGGCAACAGAGTGAGACTCTGTCTCAAAAAATTATGTCTACCTAATCACCAGAATCCCTTGGGGAGCTTTCATAACGAATTCCTGAGCTCCATAAGGTAACTCTCCAGGGGAACCTGGGCCCTCTGATGATCACATTTAGGAATCTGCGCATTTTTTCACCTCAACCTATGCTCTCTGCAGCTCCTACAGAGTTTTGTAACAAAGAACCATAACCTAGATAAAATACAGGCCAAGCACGGTGGCTTACCACCGCACTCCAGGCTGGGCAACAGAGCAAGACTCCGTTAAAAAAAAAAAAAAAAAAAAAAAAGCAACTGTGAGCTAGCAATGATCCCAAGAATCAGAAGATAATTCTCCTCACACCACACATGCATGCATATCCTTTCACATCGTGGTATACACCATCCGTTCTCCACTCCAGTTTCTAATTTCTTCTCCTGTTGGCAAGAAAACTACAACACTCTTGTTTCTTTCGAGGTGGTAAATGGCTTTGCTTTGGACTTCTCGGGAATAGTACAACGCACTCTGCGGGAAAAGTTACTCAATATTCTATACCACATGTATCTGGATGTTTGTACAGGTGTGGGTGAAGAAAGTGACAGACTATCTGTGCTTAAGGCCATCTCATGGATGGCCTGAAGAACTGAGTCTAGTTCTATTCCAAGTCCCAAGCCATGGGACAAAGGTTCTAGCACTTGACCAAATGCCTGCAGGCCAGAGCCCTCTAAAGCTGACATCAGCTAAGAATGCTTTTGTCCCTTACACAAAAGAAACTATCTTCAAATAGCTGAAGGGATTTGTGTGGGAACCATACCTTTAGGCCGAGGCCTGCCAGTCTCTGGACGGCTACGGCGTAGGGTGGCAGGCACAATCTCCGGGGGCAGATGAAGGTAATCACGGAGATACTGGATACCCTCATTGGTAAGGTACCAGTAGAAATGTCTCCAGGCAAACTGTTCCTTCACGTAGCCTCGGGACTTGAGAGACTGTAAGGCAGAAAACTACTGTTAAGGCGTTAAGTAGAAGCTTGGATCATCCTAGGCAAGTCTCCAGTCCCAGCCAGCCCTTCAAGTTAGCAAGCAGCCCCCGCAGTCCTGACCTCCCTTTTTGAACTTGCCTTGAACCTTAGGGGAAGATCCCTCCATCCCATTCCATCCCATCCCGGGATGGGATCCCGGGGAGGAAGATCCATCCCATCTTCCTCCTCACCCTCCTACCTGCATGGCCTTCATGACATGAAGGTTGGGCACATTCTTGTCTGCCAGCTCCGGGTGCTTAGGCATGTGGACATCCTTCTTGGCCACCATGACTCCCTCCTTAAAAAGGAGTTCATAAATGGCAATCCGGTTCTTCTTAGGCATCAATATCTGCAAGAAGGAGACGATTGTCAAGAGCACTTCTGAGTAACGAGGCCGGGGCCCGGTAATCAAGTTCTTGATCCTAAAGTGACCCACACAAAACCGTAGACAACATGCTGGTGGGAAGACTCAACTCCACAAAACAGATTCGGCAGAGGCCAGCTCCGTCAGTCCCCACCCCCAAACACAATTCAGGTGGAAAAGTTGACAGTATGTTAAAACCAGGATAGTGGTGCACATTCGCGCCAAACTTCCTTAAGTTCTCATCAATTACAAAGGTCAATGGGGGGGAGAGGAGCAAACCCTGTATTATCGGGAGCAGTTGGAGGCCATCAGCGACCGTACCCAGCGCGGAATCTCGCGGCTGTACCATAAGGTACGCAGGGAAGGCCCGGAGGGGTAAAGCCCCGGCTTCTTGAAGGCGGCAGACCCCAAACCAAAGGGCTAAGGCCTTCGCACCCTCGTCTCCTACCTACCACTTCTCCCCCAAACTAGAGCTCCAGTGCCAGGCAAGGAGGCAGTCGGGGGAGTCCTGTTCCCAAGAAAAAAGCGTGTCGGTGGGACACCGTCTCGCTAGTCTCACCTGGCAAGTCTCCGCCACTCACTGGCTTCATCCTCCCCCTCTCCCTCGGACAATCTTCGCCTACCAGCGGCCCCCTACCCCATAAAATAAGCCTCCAGCCCCTATCGCTACTCAGAAATCGGTGTGTGGGGAGTGGGAGAGAGGCCCCCTGCCCGCATCCTGGGGAGAAGCAGCCGCTAAGGCGGCAGGATAGCCCGGATGGGAGCCGATGGAACTCGAACGCCACAGAAACTCACCTCTGCGGCTGCAGGGTCCGGTACCGGGGCTGGAAAGGAAGGAGCATGCGCGGTGCTGCGTCTCTTCCGGGCTGGCGTGGACCCGCCCCCCGCCAGGACCCGCGGGGAGCCTGGGGTGGCCTCGGCGGTGCCTGAAGAACTGGCGGATCTGACCACGGAGCCTGACCGCCTGAGGGACTCACGCACGCACTAGGAAACCGCCGCCGGGAACTTCTGAGCTTGCGTGCTCTATCAGTACAGGGTCACTTATTTTGGGCTGTCGTTTTAGAAACGCTTCTTCTTTTTTTCCCGGCCAAAATCTATTATGCAAGTGATATATGCTCTTGGAGCAAGAAAAGAGAGAGAACATATAAATCAGATGACGATAAAAGACTAAAAACATAATCCCATCAACCAAAGAAAATAGCTATTAACATTGTGGTATACACTTTTCCAAATTCATATGCACTCACACAAGTAGACTTTTTTTTTTTTTAATAAAAAACAGAGGCCGGGCACAGTGGCTCACGCCTATAATCTCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTTAGGGGTTCGAGACCAGCCTAGCCAATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAGCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTGCAGCCTGGGCGACAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAATTGACTCAGCATTTTGGGAGGCTGAGGCAGGAGAACTGCTTGAGCCCAGGAGGTCCAGACTAGCCTAGGCAATGGTGAGACTTCATCTCTACAATTTTTTTTTTTAATTAACTGACTGTGGTGGTGCACGCTTGTAGTCCCAGTTATTGAGGAGGCTGAGGCGGGAGGATCGCTTGAGCCAGGAAAGTGGAGGGTGCAGTGAGCCGGGTTCGTGCCCCTGCAGTCCAGCCTGGGTGACAGAGCAAGACCCTGGCTCTATTTAAATAAAAAAAAAAAAAAAAAGAGGCTGGGCGCGGCAGTTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAGGGTGGGCGGTTCACCTGAGGTCAGGAGTTCAAGACCAGCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCAGGTGTGTTGGCGTGCGCCTGTAATTCCA
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Task1_train_10204
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The variant affects gene RPS10, RPS10-NUDT3 (ribosomal protein S10| RPS10-NUDT3 readthrough), which is on Chromosome 6. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Diamond-Blackfan anemia
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TCTCCTTTTTTTTTTTTTGACACAGTGTCTTGCTTTGTTGTTCAGGCTGAGTGCCATGGCCACAATCACAGCTCAATGCAGCCTGGAGTTCCTGGGCTTAACCACAGGTGTGCACCACCATGCCTGGCTAATTTATTTTTTTGTAGACGGAGTCTCACTATACTGCCTTAGCTGGTCTCAAACTCCTGGACTCAAGTAGTCTTCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGAATGAGTCACTGCACTCAGGCAGAATGAACTCCTTTTAGAGCAGAAATAAATTAATCATGTAATGAGTGGCAAAAACAAATGTCAGGCCCAACTAAATCAGAATATATCAAGCACAGATAGGCACTGGTATTTTTTTCTCCCAGGAGATTCCAAGATGTAGTAGACAACTTTTGCTAAAAAGACGTATTATGGGCTGGGCGCGGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGTGGATCACCTGAGGTCAGGAGTTCGAGCCCAGCCTGGCCAACAGAGTGAAACCCCATCTCCACTAAAAATACAAAAATTAGCTGGGTGTCGCTCTGGGCGCCTATAATCCCAGTCTCGGGAGGCTGAGACAGAATTGATTGAACCTCAGAGGTGGAAGTTGCAGTAAGCTGAGATCGCACCACTGCACTCCAGCCTCGGCAACAGAGTGAGACTCTGTCTCAAAAAATTATGTCTACCTAATCACCAGAATCCCTTGGGGAGCTTTCATAACGAATTCCTGAGCTCCATAAGGTAACTCTCCAGGGGAACCTGGGCCCTCTGATGATCACATTTAGGAATCTGCGCATTTTTTCACCTCAACCTATGCTCTCTGCAGCTCCTACAGAGTTTTGTAACAAAGAACCATAACCTAGATAAAATACAGGCCAAGCACGGTGGCTTACCACCGCACTCCAGGCTGGGCAACAGAGCAAGACTCCGTTAAAAAAAAAAAAAAAAAAAAAAAAGCAACTGTGAGCTAGCAATGATCCCAAGAATCAGAAGATAATTCTCCTCACACCACACATGCATGCATATCCTTTCACATCGTGGTATACACCATCCGTTCTCCACTCCAGTTTCTAATTTCTTCTCCTGTTGGCAAGAAAACTACAACACTCTTGTTTCTTTCGAGGTGGTAAATGGCTTTGCTTTGGACTTCTCGGGAATAGTACAACGCACTCTGCGGGAAAAGTTACTCAATATTCTATACCACATGTATCTGGATGTTTGTACAGGTGTGGGTGAAGAAAGTGACAGACTATCTGTGCTTAAGGCCATCTCATGGATGGCCTGAAGAACTGAGTCTAGTTCTATTCCAAGTCCCAAGCCATGGGACAAAGGTTCTAGCACTTGACCAAATGCCTGCAGGCCAGAGCCCTCTAAAGCTGACATCAGCTAAGAATGCTTTTGTCCCTTACACAAAAGAAACTATCTTCAAATAGCTGAAGGGATTTGTGTGGGAACCATACCTTTAGGCCGAGGCCTGCCAGTCTCTGGACGGCTACGGCGTAGGGTGGCAGGCACAATCTCCGGGGGCAGATGAAGGTAATCACGGAGATACTGGATACCCTCATTGGTAAGGTACCAGTAGAAATGTCTCCAGGCAAACTGTTCCTTCACGTAGCCTCGGGACTTGAGAGACTGTAAGGCAGAAAACTACTGTTAAGGCGTTAAGTAGAAGCTTGGATCATCCTAGGCAAGTCTCCAGTCCCAGCCAGCCCTTCAAGTTAGCAAGCAGCCCCCGCAGTCCTGACCTCCCTTTTTGAACTTGCCTTGAACCTTAGGGGAAGATCCCTCCATCCCATTCCATCCCATCCCGGGATGGGATCCCGGGGAGGAAGATCCATCCCATCTTCCTCCTCACCCTCCTACCTGCATGGCCTTCATGACATGAAGGTTGGGCACATTCTTGTCTGCCAGCTCCGGGTGCTTAGGCATGTGGACATCCTTCTTGGCCACCATGACTCCCTCCTTAAAAAGGAGTTCATAAATGGCAATCCGGTTCTTCTTAGGCATCAACATCTGCAAGAAGGAGACGATTGTCAAGAGCACTTCTGAGTAACGAGGCCGGGGCCCGGTAATCAAGTTCTTGATCCTAAAGTGACCCACACAAAACCGTAGACAACATGCTGGTGGGAAGACTCAACTCCACAAAACAGATTCGGCAGAGGCCAGCTCCGTCAGTCCCCACCCCCAAACACAATTCAGGTGGAAAAGTTGACAGTATGTTAAAACCAGGATAGTGGTGCACATTCGCGCCAAACTTCCTTAAGTTCTCATCAATTACAAAGGTCAATGGGGGGGAGAGGAGCAAACCCTGTATTATCGGGAGCAGTTGGAGGCCATCAGCGACCGTACCCAGCGCGGAATCTCGCGGCTGTACCATAAGGTACGCAGGGAAGGCCCGGAGGGGTAAAGCCCCGGCTTCTTGAAGGCGGCAGACCCCAAACCAAAGGGCTAAGGCCTTCGCACCCTCGTCTCCTACCTACCACTTCTCCCCCAAACTAGAGCTCCAGTGCCAGGCAAGGAGGCAGTCGGGGGAGTCCTGTTCCCAAGAAAAAAGCGTGTCGGTGGGACACCGTCTCGCTAGTCTCACCTGGCAAGTCTCCGCCACTCACTGGCTTCATCCTCCCCCTCTCCCTCGGACAATCTTCGCCTACCAGCGGCCCCCTACCCCATAAAATAAGCCTCCAGCCCCTATCGCTACTCAGAAATCGGTGTGTGGGGAGTGGGAGAGAGGCCCCCTGCCCGCATCCTGGGGAGAAGCAGCCGCTAAGGCGGCAGGATAGCCCGGATGGGAGCCGATGGAACTCGAACGCCACAGAAACTCACCTCTGCGGCTGCAGGGTCCGGTACCGGGGCTGGAAAGGAAGGAGCATGCGCGGTGCTGCGTCTCTTCCGGGCTGGCGTGGACCCGCCCCCCGCCAGGACCCGCGGGGAGCCTGGGGTGGCCTCGGCGGTGCCTGAAGAACTGGCGGATCTGACCACGGAGCCTGACCGCCTGAGGGACTCACGCACGCACTAGGAAACCGCCGCCGGGAACTTCTGAGCTTGCGTGCTCTATCAGTACAGGGTCACTTATTTTGGGCTGTCGTTTTAGAAACGCTTCTTCTTTTTTTCCCGGCCAAAATCTATTATGCAAGTGATATATGCTCTTGGAGCAAGAAAAGAGAGAGAACATATAAATCAGATGACGATAAAAGACTAAAAACATAATCCCATCAACCAAAGAAAATAGCTATTAACATTGTGGTATACACTTTTCCAAATTCATATGCACTCACACAAGTAGACTTTTTTTTTTTTTAATAAAAAACAGAGGCCGGGCACAGTGGCTCACGCCTATAATCTCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTTAGGGGTTCGAGACCAGCCTAGCCAATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAGCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTGCAGCCTGGGCGACAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAATTGACTCAGCATTTTGGGAGGCTGAGGCAGGAGAACTGCTTGAGCCCAGGAGGTCCAGACTAGCCTAGGCAATGGTGAGACTTCATCTCTACAATTTTTTTTTTTAATTAACTGACTGTGGTGGTGCACGCTTGTAGTCCCAGTTATTGAGGAGGCTGAGGCGGGAGGATCGCTTGAGCCAGGAAAGTGGAGGGTGCAGTGAGCCGGGTTCGTGCCCCTGCAGTCCAGCCTGGGTGACAGAGCAAGACCCTGGCTCTATTTAAATAAAAAAAAAAAAAAAAAGAGGCTGGGCGCGGCAGTTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAGGGTGGGCGGTTCACCTGAGGTCAGGAGTTCAAGACCAGCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCAGGTGTGTTGGCGTGCGCCTGTAATTCCAGC
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TCTCCTTTTTTTTTTTTTGACACAGTGTCTTGCTTTGTTGTTCAGGCTGAGTGCCATGGCCACAATCACAGCTCAATGCAGCCTGGAGTTCCTGGGCTTAACCACAGGTGTGCACCACCATGCCTGGCTAATTTATTTTTTTGTAGACGGAGTCTCACTATACTGCCTTAGCTGGTCTCAAACTCCTGGACTCAAGTAGTCTTCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGAATGAGTCACTGCACTCAGGCAGAATGAACTCCTTTTAGAGCAGAAATAAATTAATCATGTAATGAGTGGCAAAAACAAATGTCAGGCCCAACTAAATCAGAATATATCAAGCACAGATAGGCACTGGTATTTTTTTCTCCCAGGAGATTCCAAGATGTAGTAGACAACTTTTGCTAAAAAGACGTATTATGGGCTGGGCGCGGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGTGGATCACCTGAGGTCAGGAGTTCGAGCCCAGCCTGGCCAACAGAGTGAAACCCCATCTCCACTAAAAATACAAAAATTAGCTGGGTGTCGCTCTGGGCGCCTATAATCCCAGTCTCGGGAGGCTGAGACAGAATTGATTGAACCTCAGAGGTGGAAGTTGCAGTAAGCTGAGATCGCACCACTGCACTCCAGCCTCGGCAACAGAGTGAGACTCTGTCTCAAAAAATTATGTCTACCTAATCACCAGAATCCCTTGGGGAGCTTTCATAACGAATTCCTGAGCTCCATAAGGTAACTCTCCAGGGGAACCTGGGCCCTCTGATGATCACATTTAGGAATCTGCGCATTTTTTCACCTCAACCTATGCTCTCTGCAGCTCCTACAGAGTTTTGTAACAAAGAACCATAACCTAGATAAAATACAGGCCAAGCACGGTGGCTTACCACCGCACTCCAGGCTGGGCAACAGAGCAAGACTCCGTTAAAAAAAAAAAAAAAAAAAAAAAAGCAACTGTGAGCTAGCAATGATCCCAAGAATCAGAAGATAATTCTCCTCACACCACACATGCATGCATATCCTTTCACATCGTGGTATACACCATCCGTTCTCCACTCCAGTTTCTAATTTCTTCTCCTGTTGGCAAGAAAACTACAACACTCTTGTTTCTTTCGAGGTGGTAAATGGCTTTGCTTTGGACTTCTCGGGAATAGTACAACGCACTCTGCGGGAAAAGTTACTCAATATTCTATACCACATGTATCTGGATGTTTGTACAGGTGTGGGTGAAGAAAGTGACAGACTATCTGTGCTTAAGGCCATCTCATGGATGGCCTGAAGAACTGAGTCTAGTTCTATTCCAAGTCCCAAGCCATGGGACAAAGGTTCTAGCACTTGACCAAATGCCTGCAGGCCAGAGCCCTCTAAAGCTGACATCAGCTAAGAATGCTTTTGTCCCTTACACAAAAGAAACTATCTTCAAATAGCTGAAGGGATTTGTGTGGGAACCATACCTTTAGGCCGAGGCCTGCCAGTCTCTGGACGGCTACGGCGTAGGGTGGCAGGCACAATCTCCGGGGGCAGATGAAGGTAATCACGGAGATACTGGATACCCTCATTGGTAAGGTACCAGTAGAAATGTCTCCAGGCAAACTGTTCCTTCACGTAGCCTCGGGACTTGAGAGACTGTAAGGCAGAAAACTACTGTTAAGGCGTTAAGTAGAAGCTTGGATCATCCTAGGCAAGTCTCCAGTCCCAGCCAGCCCTTCAAGTTAGCAAGCAGCCCCCGCAGTCCTGACCTCCCTTTTTGAACTTGCCTTGAACCTTAGGGGAAGATCCCTCCATCCCATTCCATCCCATCCCGGGATGGGATCCCGGGGAGGAAGATCCATCCCATCTTCCTCCTCACCCTCCTACCTGCATGGCCTTCATGACATGAAGGTTGGGCACATTCTTGTCTGCCAGCTCCGGGTGCTTAGGCATGTGGACATCCTTCTTGGCCACCATGACTCCCTCCTTAAAAAGGAGTTCATAAATGGCAATCCGGTTCTTCTTAGGCATCAACACCTGCAAGAAGGAGACGATTGTCAAGAGCACTTCTGAGTAACGAGGCCGGGGCCCGGTAATCAAGTTCTTGATCCTAAAGTGACCCACACAAAACCGTAGACAACATGCTGGTGGGAAGACTCAACTCCACAAAACAGATTCGGCAGAGGCCAGCTCCGTCAGTCCCCACCCCCAAACACAATTCAGGTGGAAAAGTTGACAGTATGTTAAAACCAGGATAGTGGTGCACATTCGCGCCAAACTTCCTTAAGTTCTCATCAATTACAAAGGTCAATGGGGGGGAGAGGAGCAAACCCTGTATTATCGGGAGCAGTTGGAGGCCATCAGCGACCGTACCCAGCGCGGAATCTCGCGGCTGTACCATAAGGTACGCAGGGAAGGCCCGGAGGGGTAAAGCCCCGGCTTCTTGAAGGCGGCAGACCCCAAACCAAAGGGCTAAGGCCTTCGCACCCTCGTCTCCTACCTACCACTTCTCCCCCAAACTAGAGCTCCAGTGCCAGGCAAGGAGGCAGTCGGGGGAGTCCTGTTCCCAAGAAAAAAGCGTGTCGGTGGGACACCGTCTCGCTAGTCTCACCTGGCAAGTCTCCGCCACTCACTGGCTTCATCCTCCCCCTCTCCCTCGGACAATCTTCGCCTACCAGCGGCCCCCTACCCCATAAAATAAGCCTCCAGCCCCTATCGCTACTCAGAAATCGGTGTGTGGGGAGTGGGAGAGAGGCCCCCTGCCCGCATCCTGGGGAGAAGCAGCCGCTAAGGCGGCAGGATAGCCCGGATGGGAGCCGATGGAACTCGAACGCCACAGAAACTCACCTCTGCGGCTGCAGGGTCCGGTACCGGGGCTGGAAAGGAAGGAGCATGCGCGGTGCTGCGTCTCTTCCGGGCTGGCGTGGACCCGCCCCCCGCCAGGACCCGCGGGGAGCCTGGGGTGGCCTCGGCGGTGCCTGAAGAACTGGCGGATCTGACCACGGAGCCTGACCGCCTGAGGGACTCACGCACGCACTAGGAAACCGCCGCCGGGAACTTCTGAGCTTGCGTGCTCTATCAGTACAGGGTCACTTATTTTGGGCTGTCGTTTTAGAAACGCTTCTTCTTTTTTTCCCGGCCAAAATCTATTATGCAAGTGATATATGCTCTTGGAGCAAGAAAAGAGAGAGAACATATAAATCAGATGACGATAAAAGACTAAAAACATAATCCCATCAACCAAAGAAAATAGCTATTAACATTGTGGTATACACTTTTCCAAATTCATATGCACTCACACAAGTAGACTTTTTTTTTTTTTAATAAAAAACAGAGGCCGGGCACAGTGGCTCACGCCTATAATCTCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTTAGGGGTTCGAGACCAGCCTAGCCAATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAGCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTGCAGCCTGGGCGACAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAATTGACTCAGCATTTTGGGAGGCTGAGGCAGGAGAACTGCTTGAGCCCAGGAGGTCCAGACTAGCCTAGGCAATGGTGAGACTTCATCTCTACAATTTTTTTTTTTAATTAACTGACTGTGGTGGTGCACGCTTGTAGTCCCAGTTATTGAGGAGGCTGAGGCGGGAGGATCGCTTGAGCCAGGAAAGTGGAGGGTGCAGTGAGCCGGGTTCGTGCCCCTGCAGTCCAGCCTGGGTGACAGAGCAAGACCCTGGCTCTATTTAAATAAAAAAAAAAAAAAAAAGAGGCTGGGCGCGGCAGTTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAGGGTGGGCGGTTCACCTGAGGTCAGGAGTTCAAGACCAGCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCAGGTGTGTTGGCGTGCGCCTGTAATTCCAGC
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Task1_train_10205
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A sequence alteration has been identified in SCUBE3 (signal peptide, CUB domain and EGF like domain containing 3) on Chromosome 6. Is it disease-inducing or harmless?
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Pathogenic; Abnormality of the dentition
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AATTTTTGTATTTTTAGTAGAGATGGGGTTTCATCAAGGTCAGGCTGGTCTCGAACTCCTGACCTCATGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATCATCTATGTCCTTTCCTAACCATCCTCTTTTTTGCTAGATGGTGAGTGGCCTCTTCCTTCAAGTATAGCTGTGTGTGTAGCACCTATTGTTAGAGCTAGGGCCAGGAGACAGAGGGCTAAACACTGGGGATTAGGGCCTGAAGGGCTGCACTTATTAGGCTTCAGGTAGCTGGTGCCAACCTCTGCCAGCTCTGGATGTCTCCATTGTTGGCAGCACAGGGGCCGAGGAAAATCATCCAGGATGGAACATTTTTCCTCTAAAGCTTCTTGGCTCCATGGTGGGCAAGTGGAAGCAGGCCTGGTCTCAAGCAGAATCATGACACAGATGAAGATCCCTCAGATGCCCCATCCCCCTTTCTTCCTCCTTTACTAGTGATTGCTGGACCCTGCCACCTTCCCAGAGACCACTGTTCCCATGCCTTTTCCCTTAACTTTCCCTCTAAGCCTTCTCCGTAAACTCATTCACTTTAAGTTGATTATTCCTAATCAAGTTAAGTGTACTACCCACTCTAAGGGTTTTTTGTTTGTTTTCAAATAAAAAAAGGAGTGTTTCGAATGATGGAGTTTTAGCTGTCACTGTGAATTTAGTATTTTTGAGGGCAGTGGGGGTTCCTTCTGAATTCCCAAAATCAGTGTCTGCCTACTCTGAAATCAGAGAGATGTGAGACAGCACCTGTTTCTGGAGGGGGTCACTGCCTCTGTTTTAGAGAAGAGGGGATTCTGCCCTTGGAAGCCCACCTTCAAGACACCCCTTAAGAGGTGCCAACAGAGGTTCTCATGTGCCCCCTCTGCCCCTGCCAGATGTGGATGAGTGTGTGGAGGGGACTGACAACTGCCACATCGATGCTATCTGCCAGAACACCCCGAGGTCATACAAGTGCATCTGCAAGTCTGGCTACACAGGGGACGGCAAACACTGCAAAGGTGAGGCTGGAAGGGCACCTGGAGGAGAGGGACCTGTGGAAGAAGGCAAACCAGTGCCACTGCCCTCAGTTGGCCACTCTCCATCACATCAAGGCTAGAAATTCCACTGGTCAAGTGGTGGGGGGGTGGTGAGGGGGGCAACTGCATCTTCCCAGAGAGGGTGCCATTTTCTAATTTGCACAAAGGCACCATGCAGGCTAGCAGAGGCCCTGGTGGGGACAGTTCACAGCCCACAACCTGGCTGGGGTGGGAGCATGAAAATCATAAGACTAAGACCTGAGGTTCCCTGACATTGGAACCTTTATCTTTAGACCCTTACACCACATCCACAATGGATGGGAACAGAAAGTGTGCTTCAGAGGAAGTTCATAATGTAAACACATCTTCCCCTCATAATTAAATCAATGCAAATTAAAGTAGCCTTGAGATATTAAATTTATGAGCTTCAGTGTTGGTGAGACTTTAGTGGACAGGGTACACTTGTTAATTCCTAGTTGCATTATAAATTGAAAAGTAATTTTGTAATACCTACCAGGAATCTTAAAAGGTATTTCCTTTGATCCAGGAATTTTACTCTTGGGGACTTATTCAAAGTAACAAAATAATACATGGGAGAAGATGTTCTTTGATGCATTATCTATGATGGTAAAATAAATTAAAGAAATCTAAATCTCTAACAATAGAGAAAAAAATAGAAAAATAATATTCTGCAACCATGTACAATGGTAATTAGAAAGACTGGATGGAGACCTGAAAATGTTCATGACTTAGGTTTAAATGAAAACAGAAAAATGCTAAATGGCTTATAGGCCATGAACATAACTATGTAAACACAACCATAAGGCTGAGTCTGGGGGTGGACAGTGGGTTCGCAGGTGGGTTCAGCTGTCTCAGCTTCCCTTTGCCCACAGACGTGGATGAGTGCGAGCGAGAGGATAATGCAGGTTGTGTGCATGACTGTGTCAACATCCCTGGCAATTACCGGTGTACCTGCTATGATGGATTCCACCTGGCACATGACGGACACAACTGTCTGGGTAAGCAAAGGAGAGGGGATTTGGTGGAGGGATGTCTTGTGGAGAAAGAGATCTTTTCAGCATTTCCTATTTCCCAGGGAAGGAGGAGAGAGTGATCAAGAAGAGCTACATTCACAAGAGAATAAGGTCAGCCTCCCCTTTGAGACTGGCCACTTAGGATGAAAAATCCTGCTGGATGAAAAACATTAGAGGAAAAGCTGCTACGAAATGCTCCTAGGGCAAGGGCCAGGAGATGGGAATAGTGGGTTTAGCCAGTGGTGAGGCATGGTAGGAAGCTGATTTGGCTCCACACAGATATCTTGGTTCTGCTGCTTACTAGCCTTGGGTCTTGGGCAAATCAGCCAATCTCTGGAAATCTCATCTTTCTCCTCTCTAAAATGGGGGTGGGACCAGGTGTGGTAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGAGGGACTGCTAGAGCCCAGGAGTTCAAGACAGGCCTGGGCAACATAGTGAGACCCTGTTTCTACAAAAAATAATAATAATAAAAATTAGTCAGTCATGATGGTGCATACCTGTAGTCCCCAGCTACTTGGGAGCTCTTCCTTGGCTTGAGCCTAGGAAGTCGAGGCTGCAGTTAGCTGTGATTGTGTCACTGCGCTCCAGATCGAGCAATCTTATCTCAAAAAATAACAATAAAATAGAATGGGGTGGTAATAACCCACTTGAAGGCTGCTGTGCGGATCACCACAAGACAACATATGAAAAGAGCCCTGTACAATCCTTAGCACATGGTAGGAGCTCAGTAATGGGAAGAATGTTTTTGATGATGACGACAGTGCATCCCTATGCCCCAGGAAGCCTCTGACCCTTACAGGCTTGTTTTCTCCCAGTTCTTCCTGCAATCTCCAGTCTCACCCTCTCCTCACTGATCTCCTTTGTCCCAGGAGCTGGATCAGAGATAAGAGAATCTCTAAGGAACTGAACTCAACTTTGGTCTCTGTCATTTTGGAAAATTACTGGGACCAAGTCAGACTCTTCCCCAAGCAGAAAATCTGAAGCTCATAGCAGAAAAGGATTTGAAATTTGAACCCAGGGCCTTCTCCCAAATTACTTCACCCTGTAGCCACAACAGAAAACAGGCACTAGAAGCATAAAGGACCAGGAAAGGAAGAGAAACAAAAGGAATGATGCCCAGAAAAGCAGGCTGGGCTGGTCCTCACCCACCAATTGACCAAATAGATGAATTCTCTTAAGTCCTATTGGCTGAGAAGAGCCTCCTTACTGCAGAGCTGCCTCCAAACCTAGTCATAACCCATCATTGGACCCAGGCTATAGGTTTCTACACCCAACCCTGGCCTCCAAACCCTGATATCTGCTGGGCCCTTAATCCCAGCCCTGGTCACCTCTCCTACCATTTTAGCTTCCAGGGAAGGGCCTCATATCTGCCCAGTCACCCTTGAGGGCCTCTTATGAAACTCCTTTGGGAAGGGAAGCTGTGGCACTTAGACCAGGACAGTGAGTTGCCTACAGGACATGCACATAAGCTTCTGAGTTCTTTGGCTGCCTTTGACTTTTCTAGGCCCCTGATTGTCACCACATCTCATTTCCCTATAAGTGTTTTGGGGAGAACCAACCAGAGGGACAAGAGAATGATTAGGTATAGAGAGGGTCAAGGGACAAAGATTACCTAGGGTTAGGGTTCAAAGTCTCAATACTACCTTTGGCTCTTAGGGGAATTTTGAGAAAGTTGTCCATGCTCTGGGCCTTAGCTTCCCCACTGAGAATTGGAGGAAAGAGCTTGGCTAGAGTAGCAAAGCCACAAGGTTAGATAGTAAGGGAGCAGACAGAAGGATGGCATGTAGAATGTGGCAAGAGCAGGAAGACAGGGATGGGGAGAAGTCAAGAGAACAGCAAAAGACAGGGTAGAGACAGGAGCAAAGCACAGGAAAGTACACCTTAGCTCTTCCAACAGGTGCATCTCTTGGGCAAGAGCCAGCTGGATCTGGGCCTCTCTGCCCTGGCCAG
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AATTTTTGTATTTTTAGTAGAGATGGGGTTTCATCAAGGTCAGGCTGGTCTCGAACTCCTGACCTCATGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATCATCTATGTCCTTTCCTAACCATCCTCTTTTTTGCTAGATGGTGAGTGGCCTCTTCCTTCAAGTATAGCTGTGTGTGTAGCACCTATTGTTAGAGCTAGGGCCAGGAGACAGAGGGCTAAACACTGGGGATTAGGGCCTGAAGGGCTGCACTTATTAGGCTTCAGGTAGCTGGTGCCAACCTCTGCCAGCTCTGGATGTCTCCATTGTTGGCAGCACAGGGGCCGAGGAAAATCATCCAGGATGGAACATTTTTCCTCTAAAGCTTCTTGGCTCCATGGTGGGCAAGTGGAAGCAGGCCTGGTCTCAAGCAGAATCATGACACAGATGAAGATCCCTCAGATGCCCCATCCCCCTTTCTTCCTCCTTTACTAGTGATTGCTGGACCCTGCCACCTTCCCAGAGACCACTGTTCCCATGCCTTTTCCCTTAACTTTCCCTCTAAGCCTTCTCCGTAAACTCATTCACTTTAAGTTGATTATTCCTAATCAAGTTAAGTGTACTACCCACTCTAAGGGTTTTTTGTTTGTTTTCAAATAAAAAAAGGAGTGTTTCGAATGATGGAGTTTTAGCTGTCACTGTGAATTTAGTATTTTTGAGGGCAGTGGGGGTTCCTTCTGAATTCCCAAAATCAGTGTCTGCCTACTCTGAAATCAGAGAGATGTGAGACAGCACCTGTTTCTGGAGGGGGTCACTGCCTCTGTTTTAGAGAAGAGGGGATTCTGCCCTTGGAAGCCCACCTTCAAGACACCCCTTAAGAGGTGCCAACAGAGGTTCTCATGTGCCCCCTCTGCCCCTGCCAGATGTGGATGAGTGTGTGGAGGGGACTGACAACTGCCACATCGATGCTATCTGCCAGAACACCCCGAGGTCATACAAGTGCATCTGCAAGTCTGGCTACACAGGGGACGGCAAACACTGCAAAGGTGAGGCTGGAAGGGCACCTGGAGGAGAGGGACCTGTGGAAGAAGGCAAACCAGTGCCACTGCCCTCAGTTGGCCACTCTCCATCACATCAAGGCTAGAAATTCCACTGGTCAAGTGGTGGGGGGGTGGTGAGGGGGGCAACTGCATCTTCCCAGAGAGGGTGCCATTTTCTAATTTGCACAAAGGCACCATGCAGGCTAGCAGAGGCCCTGGTGGGGACAGTTCACAGCCCACAACCTGGCTGGGGTGGGAGCATGAAAATCATAAGACTAAGACCTGAGGTTCCCTGACATTGGAACCTTTATCTTTAGACCCTTACACCACATCCACAATGGATGGGAACAGAAAGTGTGCTTCAGAGGAAGTTCATAATGTAAACACATCTTCCCCTCATAATTAAATCAATGCAAATTAAAGTAGCCTTGAGATATTAAATTTATGAGCTTCAGTGTTGGTGAGACTTTAGTGGACAGGGTACACTTGTTAATTCCTAGTTGCATTATAAATTGAAAAGTAATTTTGTAATACCTACCAGGAATCTTAAAAGGTATTTCCTTTGATCCAGGAATTTTACTCTTGGGGACTTATTCAAAGTAACAAAATAATACATGGGAGAAGATGTTCTTTGATGCATTATCTATGATGGTAAAATAAATTAAAGAAATCTAAATCTCTAACAATAGAGAAAAAAATAGAAAAATAATATTCTGCAACCATGTACAATGGTAATTAGAAAGACTGGATGGAGACCTGAAAATGTTCATGACTTAGGTTTAAATGAAAACAGAAAAATGCTAAATGGCTTATAGGCCATGAACATAACTATGTAAACACAACCATAAGGCTGAGTCTGGGGGTGGACAGTGGGTTCGCAGGTGGGTTCAGCTGTCTCAGCTTCCCTTTGCCCACAGACGTGGATGAGTGCGAGCGAGAGGATAATGCAGGTTGTGTGCATGACTGTGTCAACATCCCTGGCAATTACCGGTGTACCTGGTATGATGGATTCCACCTGGCACATGACGGACACAACTGTCTGGGTAAGCAAAGGAGAGGGGATTTGGTGGAGGGATGTCTTGTGGAGAAAGAGATCTTTTCAGCATTTCCTATTTCCCAGGGAAGGAGGAGAGAGTGATCAAGAAGAGCTACATTCACAAGAGAATAAGGTCAGCCTCCCCTTTGAGACTGGCCACTTAGGATGAAAAATCCTGCTGGATGAAAAACATTAGAGGAAAAGCTGCTACGAAATGCTCCTAGGGCAAGGGCCAGGAGATGGGAATAGTGGGTTTAGCCAGTGGTGAGGCATGGTAGGAAGCTGATTTGGCTCCACACAGATATCTTGGTTCTGCTGCTTACTAGCCTTGGGTCTTGGGCAAATCAGCCAATCTCTGGAAATCTCATCTTTCTCCTCTCTAAAATGGGGGTGGGACCAGGTGTGGTAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGAGGGACTGCTAGAGCCCAGGAGTTCAAGACAGGCCTGGGCAACATAGTGAGACCCTGTTTCTACAAAAAATAATAATAATAAAAATTAGTCAGTCATGATGGTGCATACCTGTAGTCCCCAGCTACTTGGGAGCTCTTCCTTGGCTTGAGCCTAGGAAGTCGAGGCTGCAGTTAGCTGTGATTGTGTCACTGCGCTCCAGATCGAGCAATCTTATCTCAAAAAATAACAATAAAATAGAATGGGGTGGTAATAACCCACTTGAAGGCTGCTGTGCGGATCACCACAAGACAACATATGAAAAGAGCCCTGTACAATCCTTAGCACATGGTAGGAGCTCAGTAATGGGAAGAATGTTTTTGATGATGACGACAGTGCATCCCTATGCCCCAGGAAGCCTCTGACCCTTACAGGCTTGTTTTCTCCCAGTTCTTCCTGCAATCTCCAGTCTCACCCTCTCCTCACTGATCTCCTTTGTCCCAGGAGCTGGATCAGAGATAAGAGAATCTCTAAGGAACTGAACTCAACTTTGGTCTCTGTCATTTTGGAAAATTACTGGGACCAAGTCAGACTCTTCCCCAAGCAGAAAATCTGAAGCTCATAGCAGAAAAGGATTTGAAATTTGAACCCAGGGCCTTCTCCCAAATTACTTCACCCTGTAGCCACAACAGAAAACAGGCACTAGAAGCATAAAGGACCAGGAAAGGAAGAGAAACAAAAGGAATGATGCCCAGAAAAGCAGGCTGGGCTGGTCCTCACCCACCAATTGACCAAATAGATGAATTCTCTTAAGTCCTATTGGCTGAGAAGAGCCTCCTTACTGCAGAGCTGCCTCCAAACCTAGTCATAACCCATCATTGGACCCAGGCTATAGGTTTCTACACCCAACCCTGGCCTCCAAACCCTGATATCTGCTGGGCCCTTAATCCCAGCCCTGGTCACCTCTCCTACCATTTTAGCTTCCAGGGAAGGGCCTCATATCTGCCCAGTCACCCTTGAGGGCCTCTTATGAAACTCCTTTGGGAAGGGAAGCTGTGGCACTTAGACCAGGACAGTGAGTTGCCTACAGGACATGCACATAAGCTTCTGAGTTCTTTGGCTGCCTTTGACTTTTCTAGGCCCCTGATTGTCACCACATCTCATTTCCCTATAAGTGTTTTGGGGAGAACCAACCAGAGGGACAAGAGAATGATTAGGTATAGAGAGGGTCAAGGGACAAAGATTACCTAGGGTTAGGGTTCAAAGTCTCAATACTACCTTTGGCTCTTAGGGGAATTTTGAGAAAGTTGTCCATGCTCTGGGCCTTAGCTTCCCCACTGAGAATTGGAGGAAAGAGCTTGGCTAGAGTAGCAAAGCCACAAGGTTAGATAGTAAGGGAGCAGACAGAAGGATGGCATGTAGAATGTGGCAAGAGCAGGAAGACAGGGATGGGGAGAAGTCAAGAGAACAGCAAAAGACAGGGTAGAGACAGGAGCAAAGCACAGGAAAGTACACCTTAGCTCTTCCAACAGGTGCATCTCTTGGGCAAGAGCCAGCTGGATCTGGGCCTCTCTGCCCTGGCCAG
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Task1_train_10206
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A mutation found in SCUBE3 (signal peptide, CUB domain and EGF like domain containing 3) on Chromosome 6 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Short stature
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AATTTTTGTATTTTTAGTAGAGATGGGGTTTCATCAAGGTCAGGCTGGTCTCGAACTCCTGACCTCATGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATCATCTATGTCCTTTCCTAACCATCCTCTTTTTTGCTAGATGGTGAGTGGCCTCTTCCTTCAAGTATAGCTGTGTGTGTAGCACCTATTGTTAGAGCTAGGGCCAGGAGACAGAGGGCTAAACACTGGGGATTAGGGCCTGAAGGGCTGCACTTATTAGGCTTCAGGTAGCTGGTGCCAACCTCTGCCAGCTCTGGATGTCTCCATTGTTGGCAGCACAGGGGCCGAGGAAAATCATCCAGGATGGAACATTTTTCCTCTAAAGCTTCTTGGCTCCATGGTGGGCAAGTGGAAGCAGGCCTGGTCTCAAGCAGAATCATGACACAGATGAAGATCCCTCAGATGCCCCATCCCCCTTTCTTCCTCCTTTACTAGTGATTGCTGGACCCTGCCACCTTCCCAGAGACCACTGTTCCCATGCCTTTTCCCTTAACTTTCCCTCTAAGCCTTCTCCGTAAACTCATTCACTTTAAGTTGATTATTCCTAATCAAGTTAAGTGTACTACCCACTCTAAGGGTTTTTTGTTTGTTTTCAAATAAAAAAAGGAGTGTTTCGAATGATGGAGTTTTAGCTGTCACTGTGAATTTAGTATTTTTGAGGGCAGTGGGGGTTCCTTCTGAATTCCCAAAATCAGTGTCTGCCTACTCTGAAATCAGAGAGATGTGAGACAGCACCTGTTTCTGGAGGGGGTCACTGCCTCTGTTTTAGAGAAGAGGGGATTCTGCCCTTGGAAGCCCACCTTCAAGACACCCCTTAAGAGGTGCCAACAGAGGTTCTCATGTGCCCCCTCTGCCCCTGCCAGATGTGGATGAGTGTGTGGAGGGGACTGACAACTGCCACATCGATGCTATCTGCCAGAACACCCCGAGGTCATACAAGTGCATCTGCAAGTCTGGCTACACAGGGGACGGCAAACACTGCAAAGGTGAGGCTGGAAGGGCACCTGGAGGAGAGGGACCTGTGGAAGAAGGCAAACCAGTGCCACTGCCCTCAGTTGGCCACTCTCCATCACATCAAGGCTAGAAATTCCACTGGTCAAGTGGTGGGGGGGTGGTGAGGGGGGCAACTGCATCTTCCCAGAGAGGGTGCCATTTTCTAATTTGCACAAAGGCACCATGCAGGCTAGCAGAGGCCCTGGTGGGGACAGTTCACAGCCCACAACCTGGCTGGGGTGGGAGCATGAAAATCATAAGACTAAGACCTGAGGTTCCCTGACATTGGAACCTTTATCTTTAGACCCTTACACCACATCCACAATGGATGGGAACAGAAAGTGTGCTTCAGAGGAAGTTCATAATGTAAACACATCTTCCCCTCATAATTAAATCAATGCAAATTAAAGTAGCCTTGAGATATTAAATTTATGAGCTTCAGTGTTGGTGAGACTTTAGTGGACAGGGTACACTTGTTAATTCCTAGTTGCATTATAAATTGAAAAGTAATTTTGTAATACCTACCAGGAATCTTAAAAGGTATTTCCTTTGATCCAGGAATTTTACTCTTGGGGACTTATTCAAAGTAACAAAATAATACATGGGAGAAGATGTTCTTTGATGCATTATCTATGATGGTAAAATAAATTAAAGAAATCTAAATCTCTAACAATAGAGAAAAAAATAGAAAAATAATATTCTGCAACCATGTACAATGGTAATTAGAAAGACTGGATGGAGACCTGAAAATGTTCATGACTTAGGTTTAAATGAAAACAGAAAAATGCTAAATGGCTTATAGGCCATGAACATAACTATGTAAACACAACCATAAGGCTGAGTCTGGGGGTGGACAGTGGGTTCGCAGGTGGGTTCAGCTGTCTCAGCTTCCCTTTGCCCACAGACGTGGATGAGTGCGAGCGAGAGGATAATGCAGGTTGTGTGCATGACTGTGTCAACATCCCTGGCAATTACCGGTGTACCTGCTATGATGGATTCCACCTGGCACATGACGGACACAACTGTCTGGGTAAGCAAAGGAGAGGGGATTTGGTGGAGGGATGTCTTGTGGAGAAAGAGATCTTTTCAGCATTTCCTATTTCCCAGGGAAGGAGGAGAGAGTGATCAAGAAGAGCTACATTCACAAGAGAATAAGGTCAGCCTCCCCTTTGAGACTGGCCACTTAGGATGAAAAATCCTGCTGGATGAAAAACATTAGAGGAAAAGCTGCTACGAAATGCTCCTAGGGCAAGGGCCAGGAGATGGGAATAGTGGGTTTAGCCAGTGGTGAGGCATGGTAGGAAGCTGATTTGGCTCCACACAGATATCTTGGTTCTGCTGCTTACTAGCCTTGGGTCTTGGGCAAATCAGCCAATCTCTGGAAATCTCATCTTTCTCCTCTCTAAAATGGGGGTGGGACCAGGTGTGGTAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGAGGGACTGCTAGAGCCCAGGAGTTCAAGACAGGCCTGGGCAACATAGTGAGACCCTGTTTCTACAAAAAATAATAATAATAAAAATTAGTCAGTCATGATGGTGCATACCTGTAGTCCCCAGCTACTTGGGAGCTCTTCCTTGGCTTGAGCCTAGGAAGTCGAGGCTGCAGTTAGCTGTGATTGTGTCACTGCGCTCCAGATCGAGCAATCTTATCTCAAAAAATAACAATAAAATAGAATGGGGTGGTAATAACCCACTTGAAGGCTGCTGTGCGGATCACCACAAGACAACATATGAAAAGAGCCCTGTACAATCCTTAGCACATGGTAGGAGCTCAGTAATGGGAAGAATGTTTTTGATGATGACGACAGTGCATCCCTATGCCCCAGGAAGCCTCTGACCCTTACAGGCTTGTTTTCTCCCAGTTCTTCCTGCAATCTCCAGTCTCACCCTCTCCTCACTGATCTCCTTTGTCCCAGGAGCTGGATCAGAGATAAGAGAATCTCTAAGGAACTGAACTCAACTTTGGTCTCTGTCATTTTGGAAAATTACTGGGACCAAGTCAGACTCTTCCCCAAGCAGAAAATCTGAAGCTCATAGCAGAAAAGGATTTGAAATTTGAACCCAGGGCCTTCTCCCAAATTACTTCACCCTGTAGCCACAACAGAAAACAGGCACTAGAAGCATAAAGGACCAGGAAAGGAAGAGAAACAAAAGGAATGATGCCCAGAAAAGCAGGCTGGGCTGGTCCTCACCCACCAATTGACCAAATAGATGAATTCTCTTAAGTCCTATTGGCTGAGAAGAGCCTCCTTACTGCAGAGCTGCCTCCAAACCTAGTCATAACCCATCATTGGACCCAGGCTATAGGTTTCTACACCCAACCCTGGCCTCCAAACCCTGATATCTGCTGGGCCCTTAATCCCAGCCCTGGTCACCTCTCCTACCATTTTAGCTTCCAGGGAAGGGCCTCATATCTGCCCAGTCACCCTTGAGGGCCTCTTATGAAACTCCTTTGGGAAGGGAAGCTGTGGCACTTAGACCAGGACAGTGAGTTGCCTACAGGACATGCACATAAGCTTCTGAGTTCTTTGGCTGCCTTTGACTTTTCTAGGCCCCTGATTGTCACCACATCTCATTTCCCTATAAGTGTTTTGGGGAGAACCAACCAGAGGGACAAGAGAATGATTAGGTATAGAGAGGGTCAAGGGACAAAGATTACCTAGGGTTAGGGTTCAAAGTCTCAATACTACCTTTGGCTCTTAGGGGAATTTTGAGAAAGTTGTCCATGCTCTGGGCCTTAGCTTCCCCACTGAGAATTGGAGGAAAGAGCTTGGCTAGAGTAGCAAAGCCACAAGGTTAGATAGTAAGGGAGCAGACAGAAGGATGGCATGTAGAATGTGGCAAGAGCAGGAAGACAGGGATGGGGAGAAGTCAAGAGAACAGCAAAAGACAGGGTAGAGACAGGAGCAAAGCACAGGAAAGTACACCTTAGCTCTTCCAACAGGTGCATCTCTTGGGCAAGAGCCAGCTGGATCTGGGCCTCTCTGCCCTGGCCAG
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AATTTTTGTATTTTTAGTAGAGATGGGGTTTCATCAAGGTCAGGCTGGTCTCGAACTCCTGACCTCATGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATCATCTATGTCCTTTCCTAACCATCCTCTTTTTTGCTAGATGGTGAGTGGCCTCTTCCTTCAAGTATAGCTGTGTGTGTAGCACCTATTGTTAGAGCTAGGGCCAGGAGACAGAGGGCTAAACACTGGGGATTAGGGCCTGAAGGGCTGCACTTATTAGGCTTCAGGTAGCTGGTGCCAACCTCTGCCAGCTCTGGATGTCTCCATTGTTGGCAGCACAGGGGCCGAGGAAAATCATCCAGGATGGAACATTTTTCCTCTAAAGCTTCTTGGCTCCATGGTGGGCAAGTGGAAGCAGGCCTGGTCTCAAGCAGAATCATGACACAGATGAAGATCCCTCAGATGCCCCATCCCCCTTTCTTCCTCCTTTACTAGTGATTGCTGGACCCTGCCACCTTCCCAGAGACCACTGTTCCCATGCCTTTTCCCTTAACTTTCCCTCTAAGCCTTCTCCGTAAACTCATTCACTTTAAGTTGATTATTCCTAATCAAGTTAAGTGTACTACCCACTCTAAGGGTTTTTTGTTTGTTTTCAAATAAAAAAAGGAGTGTTTCGAATGATGGAGTTTTAGCTGTCACTGTGAATTTAGTATTTTTGAGGGCAGTGGGGGTTCCTTCTGAATTCCCAAAATCAGTGTCTGCCTACTCTGAAATCAGAGAGATGTGAGACAGCACCTGTTTCTGGAGGGGGTCACTGCCTCTGTTTTAGAGAAGAGGGGATTCTGCCCTTGGAAGCCCACCTTCAAGACACCCCTTAAGAGGTGCCAACAGAGGTTCTCATGTGCCCCCTCTGCCCCTGCCAGATGTGGATGAGTGTGTGGAGGGGACTGACAACTGCCACATCGATGCTATCTGCCAGAACACCCCGAGGTCATACAAGTGCATCTGCAAGTCTGGCTACACAGGGGACGGCAAACACTGCAAAGGTGAGGCTGGAAGGGCACCTGGAGGAGAGGGACCTGTGGAAGAAGGCAAACCAGTGCCACTGCCCTCAGTTGGCCACTCTCCATCACATCAAGGCTAGAAATTCCACTGGTCAAGTGGTGGGGGGGTGGTGAGGGGGGCAACTGCATCTTCCCAGAGAGGGTGCCATTTTCTAATTTGCACAAAGGCACCATGCAGGCTAGCAGAGGCCCTGGTGGGGACAGTTCACAGCCCACAACCTGGCTGGGGTGGGAGCATGAAAATCATAAGACTAAGACCTGAGGTTCCCTGACATTGGAACCTTTATCTTTAGACCCTTACACCACATCCACAATGGATGGGAACAGAAAGTGTGCTTCAGAGGAAGTTCATAATGTAAACACATCTTCCCCTCATAATTAAATCAATGCAAATTAAAGTAGCCTTGAGATATTAAATTTATGAGCTTCAGTGTTGGTGAGACTTTAGTGGACAGGGTACACTTGTTAATTCCTAGTTGCATTATAAATTGAAAAGTAATTTTGTAATACCTACCAGGAATCTTAAAAGGTATTTCCTTTGATCCAGGAATTTTACTCTTGGGGACTTATTCAAAGTAACAAAATAATACATGGGAGAAGATGTTCTTTGATGCATTATCTATGATGGTAAAATAAATTAAAGAAATCTAAATCTCTAACAATAGAGAAAAAAATAGAAAAATAATATTCTGCAACCATGTACAATGGTAATTAGAAAGACTGGATGGAGACCTGAAAATGTTCATGACTTAGGTTTAAATGAAAACAGAAAAATGCTAAATGGCTTATAGGCCATGAACATAACTATGTAAACACAACCATAAGGCTGAGTCTGGGGGTGGACAGTGGGTTCGCAGGTGGGTTCAGCTGTCTCAGCTTCCCTTTGCCCACAGACGTGGATGAGTGCGAGCGAGAGGATAATGCAGGTTGTGTGCATGACTGTGTCAACATCCCTGGCAATTACCGGTGTACCTGGTATGATGGATTCCACCTGGCACATGACGGACACAACTGTCTGGGTAAGCAAAGGAGAGGGGATTTGGTGGAGGGATGTCTTGTGGAGAAAGAGATCTTTTCAGCATTTCCTATTTCCCAGGGAAGGAGGAGAGAGTGATCAAGAAGAGCTACATTCACAAGAGAATAAGGTCAGCCTCCCCTTTGAGACTGGCCACTTAGGATGAAAAATCCTGCTGGATGAAAAACATTAGAGGAAAAGCTGCTACGAAATGCTCCTAGGGCAAGGGCCAGGAGATGGGAATAGTGGGTTTAGCCAGTGGTGAGGCATGGTAGGAAGCTGATTTGGCTCCACACAGATATCTTGGTTCTGCTGCTTACTAGCCTTGGGTCTTGGGCAAATCAGCCAATCTCTGGAAATCTCATCTTTCTCCTCTCTAAAATGGGGGTGGGACCAGGTGTGGTAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGAGGGACTGCTAGAGCCCAGGAGTTCAAGACAGGCCTGGGCAACATAGTGAGACCCTGTTTCTACAAAAAATAATAATAATAAAAATTAGTCAGTCATGATGGTGCATACCTGTAGTCCCCAGCTACTTGGGAGCTCTTCCTTGGCTTGAGCCTAGGAAGTCGAGGCTGCAGTTAGCTGTGATTGTGTCACTGCGCTCCAGATCGAGCAATCTTATCTCAAAAAATAACAATAAAATAGAATGGGGTGGTAATAACCCACTTGAAGGCTGCTGTGCGGATCACCACAAGACAACATATGAAAAGAGCCCTGTACAATCCTTAGCACATGGTAGGAGCTCAGTAATGGGAAGAATGTTTTTGATGATGACGACAGTGCATCCCTATGCCCCAGGAAGCCTCTGACCCTTACAGGCTTGTTTTCTCCCAGTTCTTCCTGCAATCTCCAGTCTCACCCTCTCCTCACTGATCTCCTTTGTCCCAGGAGCTGGATCAGAGATAAGAGAATCTCTAAGGAACTGAACTCAACTTTGGTCTCTGTCATTTTGGAAAATTACTGGGACCAAGTCAGACTCTTCCCCAAGCAGAAAATCTGAAGCTCATAGCAGAAAAGGATTTGAAATTTGAACCCAGGGCCTTCTCCCAAATTACTTCACCCTGTAGCCACAACAGAAAACAGGCACTAGAAGCATAAAGGACCAGGAAAGGAAGAGAAACAAAAGGAATGATGCCCAGAAAAGCAGGCTGGGCTGGTCCTCACCCACCAATTGACCAAATAGATGAATTCTCTTAAGTCCTATTGGCTGAGAAGAGCCTCCTTACTGCAGAGCTGCCTCCAAACCTAGTCATAACCCATCATTGGACCCAGGCTATAGGTTTCTACACCCAACCCTGGCCTCCAAACCCTGATATCTGCTGGGCCCTTAATCCCAGCCCTGGTCACCTCTCCTACCATTTTAGCTTCCAGGGAAGGGCCTCATATCTGCCCAGTCACCCTTGAGGGCCTCTTATGAAACTCCTTTGGGAAGGGAAGCTGTGGCACTTAGACCAGGACAGTGAGTTGCCTACAGGACATGCACATAAGCTTCTGAGTTCTTTGGCTGCCTTTGACTTTTCTAGGCCCCTGATTGTCACCACATCTCATTTCCCTATAAGTGTTTTGGGGAGAACCAACCAGAGGGACAAGAGAATGATTAGGTATAGAGAGGGTCAAGGGACAAAGATTACCTAGGGTTAGGGTTCAAAGTCTCAATACTACCTTTGGCTCTTAGGGGAATTTTGAGAAAGTTGTCCATGCTCTGGGCCTTAGCTTCCCCACTGAGAATTGGAGGAAAGAGCTTGGCTAGAGTAGCAAAGCCACAAGGTTAGATAGTAAGGGAGCAGACAGAAGGATGGCATGTAGAATGTGGCAAGAGCAGGAAGACAGGGATGGGGAGAAGTCAAGAGAACAGCAAAAGACAGGGTAGAGACAGGAGCAAAGCACAGGAAAGTACACCTTAGCTCTTCCAACAGGTGCATCTCTTGGGCAAGAGCCAGCTGGATCTGGGCCTCTCTGCCCTGGCCAG
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Task1_train_10207
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A variant was discovered on Chromosome 6, affecting SCUBE3 (signal peptide, CUB domain and EGF like domain containing 3). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Abnormal facial shape
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AATTTTTGTATTTTTAGTAGAGATGGGGTTTCATCAAGGTCAGGCTGGTCTCGAACTCCTGACCTCATGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATCATCTATGTCCTTTCCTAACCATCCTCTTTTTTGCTAGATGGTGAGTGGCCTCTTCCTTCAAGTATAGCTGTGTGTGTAGCACCTATTGTTAGAGCTAGGGCCAGGAGACAGAGGGCTAAACACTGGGGATTAGGGCCTGAAGGGCTGCACTTATTAGGCTTCAGGTAGCTGGTGCCAACCTCTGCCAGCTCTGGATGTCTCCATTGTTGGCAGCACAGGGGCCGAGGAAAATCATCCAGGATGGAACATTTTTCCTCTAAAGCTTCTTGGCTCCATGGTGGGCAAGTGGAAGCAGGCCTGGTCTCAAGCAGAATCATGACACAGATGAAGATCCCTCAGATGCCCCATCCCCCTTTCTTCCTCCTTTACTAGTGATTGCTGGACCCTGCCACCTTCCCAGAGACCACTGTTCCCATGCCTTTTCCCTTAACTTTCCCTCTAAGCCTTCTCCGTAAACTCATTCACTTTAAGTTGATTATTCCTAATCAAGTTAAGTGTACTACCCACTCTAAGGGTTTTTTGTTTGTTTTCAAATAAAAAAAGGAGTGTTTCGAATGATGGAGTTTTAGCTGTCACTGTGAATTTAGTATTTTTGAGGGCAGTGGGGGTTCCTTCTGAATTCCCAAAATCAGTGTCTGCCTACTCTGAAATCAGAGAGATGTGAGACAGCACCTGTTTCTGGAGGGGGTCACTGCCTCTGTTTTAGAGAAGAGGGGATTCTGCCCTTGGAAGCCCACCTTCAAGACACCCCTTAAGAGGTGCCAACAGAGGTTCTCATGTGCCCCCTCTGCCCCTGCCAGATGTGGATGAGTGTGTGGAGGGGACTGACAACTGCCACATCGATGCTATCTGCCAGAACACCCCGAGGTCATACAAGTGCATCTGCAAGTCTGGCTACACAGGGGACGGCAAACACTGCAAAGGTGAGGCTGGAAGGGCACCTGGAGGAGAGGGACCTGTGGAAGAAGGCAAACCAGTGCCACTGCCCTCAGTTGGCCACTCTCCATCACATCAAGGCTAGAAATTCCACTGGTCAAGTGGTGGGGGGGTGGTGAGGGGGGCAACTGCATCTTCCCAGAGAGGGTGCCATTTTCTAATTTGCACAAAGGCACCATGCAGGCTAGCAGAGGCCCTGGTGGGGACAGTTCACAGCCCACAACCTGGCTGGGGTGGGAGCATGAAAATCATAAGACTAAGACCTGAGGTTCCCTGACATTGGAACCTTTATCTTTAGACCCTTACACCACATCCACAATGGATGGGAACAGAAAGTGTGCTTCAGAGGAAGTTCATAATGTAAACACATCTTCCCCTCATAATTAAATCAATGCAAATTAAAGTAGCCTTGAGATATTAAATTTATGAGCTTCAGTGTTGGTGAGACTTTAGTGGACAGGGTACACTTGTTAATTCCTAGTTGCATTATAAATTGAAAAGTAATTTTGTAATACCTACCAGGAATCTTAAAAGGTATTTCCTTTGATCCAGGAATTTTACTCTTGGGGACTTATTCAAAGTAACAAAATAATACATGGGAGAAGATGTTCTTTGATGCATTATCTATGATGGTAAAATAAATTAAAGAAATCTAAATCTCTAACAATAGAGAAAAAAATAGAAAAATAATATTCTGCAACCATGTACAATGGTAATTAGAAAGACTGGATGGAGACCTGAAAATGTTCATGACTTAGGTTTAAATGAAAACAGAAAAATGCTAAATGGCTTATAGGCCATGAACATAACTATGTAAACACAACCATAAGGCTGAGTCTGGGGGTGGACAGTGGGTTCGCAGGTGGGTTCAGCTGTCTCAGCTTCCCTTTGCCCACAGACGTGGATGAGTGCGAGCGAGAGGATAATGCAGGTTGTGTGCATGACTGTGTCAACATCCCTGGCAATTACCGGTGTACCTGCTATGATGGATTCCACCTGGCACATGACGGACACAACTGTCTGGGTAAGCAAAGGAGAGGGGATTTGGTGGAGGGATGTCTTGTGGAGAAAGAGATCTTTTCAGCATTTCCTATTTCCCAGGGAAGGAGGAGAGAGTGATCAAGAAGAGCTACATTCACAAGAGAATAAGGTCAGCCTCCCCTTTGAGACTGGCCACTTAGGATGAAAAATCCTGCTGGATGAAAAACATTAGAGGAAAAGCTGCTACGAAATGCTCCTAGGGCAAGGGCCAGGAGATGGGAATAGTGGGTTTAGCCAGTGGTGAGGCATGGTAGGAAGCTGATTTGGCTCCACACAGATATCTTGGTTCTGCTGCTTACTAGCCTTGGGTCTTGGGCAAATCAGCCAATCTCTGGAAATCTCATCTTTCTCCTCTCTAAAATGGGGGTGGGACCAGGTGTGGTAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGAGGGACTGCTAGAGCCCAGGAGTTCAAGACAGGCCTGGGCAACATAGTGAGACCCTGTTTCTACAAAAAATAATAATAATAAAAATTAGTCAGTCATGATGGTGCATACCTGTAGTCCCCAGCTACTTGGGAGCTCTTCCTTGGCTTGAGCCTAGGAAGTCGAGGCTGCAGTTAGCTGTGATTGTGTCACTGCGCTCCAGATCGAGCAATCTTATCTCAAAAAATAACAATAAAATAGAATGGGGTGGTAATAACCCACTTGAAGGCTGCTGTGCGGATCACCACAAGACAACATATGAAAAGAGCCCTGTACAATCCTTAGCACATGGTAGGAGCTCAGTAATGGGAAGAATGTTTTTGATGATGACGACAGTGCATCCCTATGCCCCAGGAAGCCTCTGACCCTTACAGGCTTGTTTTCTCCCAGTTCTTCCTGCAATCTCCAGTCTCACCCTCTCCTCACTGATCTCCTTTGTCCCAGGAGCTGGATCAGAGATAAGAGAATCTCTAAGGAACTGAACTCAACTTTGGTCTCTGTCATTTTGGAAAATTACTGGGACCAAGTCAGACTCTTCCCCAAGCAGAAAATCTGAAGCTCATAGCAGAAAAGGATTTGAAATTTGAACCCAGGGCCTTCTCCCAAATTACTTCACCCTGTAGCCACAACAGAAAACAGGCACTAGAAGCATAAAGGACCAGGAAAGGAAGAGAAACAAAAGGAATGATGCCCAGAAAAGCAGGCTGGGCTGGTCCTCACCCACCAATTGACCAAATAGATGAATTCTCTTAAGTCCTATTGGCTGAGAAGAGCCTCCTTACTGCAGAGCTGCCTCCAAACCTAGTCATAACCCATCATTGGACCCAGGCTATAGGTTTCTACACCCAACCCTGGCCTCCAAACCCTGATATCTGCTGGGCCCTTAATCCCAGCCCTGGTCACCTCTCCTACCATTTTAGCTTCCAGGGAAGGGCCTCATATCTGCCCAGTCACCCTTGAGGGCCTCTTATGAAACTCCTTTGGGAAGGGAAGCTGTGGCACTTAGACCAGGACAGTGAGTTGCCTACAGGACATGCACATAAGCTTCTGAGTTCTTTGGCTGCCTTTGACTTTTCTAGGCCCCTGATTGTCACCACATCTCATTTCCCTATAAGTGTTTTGGGGAGAACCAACCAGAGGGACAAGAGAATGATTAGGTATAGAGAGGGTCAAGGGACAAAGATTACCTAGGGTTAGGGTTCAAAGTCTCAATACTACCTTTGGCTCTTAGGGGAATTTTGAGAAAGTTGTCCATGCTCTGGGCCTTAGCTTCCCCACTGAGAATTGGAGGAAAGAGCTTGGCTAGAGTAGCAAAGCCACAAGGTTAGATAGTAAGGGAGCAGACAGAAGGATGGCATGTAGAATGTGGCAAGAGCAGGAAGACAGGGATGGGGAGAAGTCAAGAGAACAGCAAAAGACAGGGTAGAGACAGGAGCAAAGCACAGGAAAGTACACCTTAGCTCTTCCAACAGGTGCATCTCTTGGGCAAGAGCCAGCTGGATCTGGGCCTCTCTGCCCTGGCCAG
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AATTTTTGTATTTTTAGTAGAGATGGGGTTTCATCAAGGTCAGGCTGGTCTCGAACTCCTGACCTCATGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATCATCTATGTCCTTTCCTAACCATCCTCTTTTTTGCTAGATGGTGAGTGGCCTCTTCCTTCAAGTATAGCTGTGTGTGTAGCACCTATTGTTAGAGCTAGGGCCAGGAGACAGAGGGCTAAACACTGGGGATTAGGGCCTGAAGGGCTGCACTTATTAGGCTTCAGGTAGCTGGTGCCAACCTCTGCCAGCTCTGGATGTCTCCATTGTTGGCAGCACAGGGGCCGAGGAAAATCATCCAGGATGGAACATTTTTCCTCTAAAGCTTCTTGGCTCCATGGTGGGCAAGTGGAAGCAGGCCTGGTCTCAAGCAGAATCATGACACAGATGAAGATCCCTCAGATGCCCCATCCCCCTTTCTTCCTCCTTTACTAGTGATTGCTGGACCCTGCCACCTTCCCAGAGACCACTGTTCCCATGCCTTTTCCCTTAACTTTCCCTCTAAGCCTTCTCCGTAAACTCATTCACTTTAAGTTGATTATTCCTAATCAAGTTAAGTGTACTACCCACTCTAAGGGTTTTTTGTTTGTTTTCAAATAAAAAAAGGAGTGTTTCGAATGATGGAGTTTTAGCTGTCACTGTGAATTTAGTATTTTTGAGGGCAGTGGGGGTTCCTTCTGAATTCCCAAAATCAGTGTCTGCCTACTCTGAAATCAGAGAGATGTGAGACAGCACCTGTTTCTGGAGGGGGTCACTGCCTCTGTTTTAGAGAAGAGGGGATTCTGCCCTTGGAAGCCCACCTTCAAGACACCCCTTAAGAGGTGCCAACAGAGGTTCTCATGTGCCCCCTCTGCCCCTGCCAGATGTGGATGAGTGTGTGGAGGGGACTGACAACTGCCACATCGATGCTATCTGCCAGAACACCCCGAGGTCATACAAGTGCATCTGCAAGTCTGGCTACACAGGGGACGGCAAACACTGCAAAGGTGAGGCTGGAAGGGCACCTGGAGGAGAGGGACCTGTGGAAGAAGGCAAACCAGTGCCACTGCCCTCAGTTGGCCACTCTCCATCACATCAAGGCTAGAAATTCCACTGGTCAAGTGGTGGGGGGGTGGTGAGGGGGGCAACTGCATCTTCCCAGAGAGGGTGCCATTTTCTAATTTGCACAAAGGCACCATGCAGGCTAGCAGAGGCCCTGGTGGGGACAGTTCACAGCCCACAACCTGGCTGGGGTGGGAGCATGAAAATCATAAGACTAAGACCTGAGGTTCCCTGACATTGGAACCTTTATCTTTAGACCCTTACACCACATCCACAATGGATGGGAACAGAAAGTGTGCTTCAGAGGAAGTTCATAATGTAAACACATCTTCCCCTCATAATTAAATCAATGCAAATTAAAGTAGCCTTGAGATATTAAATTTATGAGCTTCAGTGTTGGTGAGACTTTAGTGGACAGGGTACACTTGTTAATTCCTAGTTGCATTATAAATTGAAAAGTAATTTTGTAATACCTACCAGGAATCTTAAAAGGTATTTCCTTTGATCCAGGAATTTTACTCTTGGGGACTTATTCAAAGTAACAAAATAATACATGGGAGAAGATGTTCTTTGATGCATTATCTATGATGGTAAAATAAATTAAAGAAATCTAAATCTCTAACAATAGAGAAAAAAATAGAAAAATAATATTCTGCAACCATGTACAATGGTAATTAGAAAGACTGGATGGAGACCTGAAAATGTTCATGACTTAGGTTTAAATGAAAACAGAAAAATGCTAAATGGCTTATAGGCCATGAACATAACTATGTAAACACAACCATAAGGCTGAGTCTGGGGGTGGACAGTGGGTTCGCAGGTGGGTTCAGCTGTCTCAGCTTCCCTTTGCCCACAGACGTGGATGAGTGCGAGCGAGAGGATAATGCAGGTTGTGTGCATGACTGTGTCAACATCCCTGGCAATTACCGGTGTACCTGGTATGATGGATTCCACCTGGCACATGACGGACACAACTGTCTGGGTAAGCAAAGGAGAGGGGATTTGGTGGAGGGATGTCTTGTGGAGAAAGAGATCTTTTCAGCATTTCCTATTTCCCAGGGAAGGAGGAGAGAGTGATCAAGAAGAGCTACATTCACAAGAGAATAAGGTCAGCCTCCCCTTTGAGACTGGCCACTTAGGATGAAAAATCCTGCTGGATGAAAAACATTAGAGGAAAAGCTGCTACGAAATGCTCCTAGGGCAAGGGCCAGGAGATGGGAATAGTGGGTTTAGCCAGTGGTGAGGCATGGTAGGAAGCTGATTTGGCTCCACACAGATATCTTGGTTCTGCTGCTTACTAGCCTTGGGTCTTGGGCAAATCAGCCAATCTCTGGAAATCTCATCTTTCTCCTCTCTAAAATGGGGGTGGGACCAGGTGTGGTAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGAGGGACTGCTAGAGCCCAGGAGTTCAAGACAGGCCTGGGCAACATAGTGAGACCCTGTTTCTACAAAAAATAATAATAATAAAAATTAGTCAGTCATGATGGTGCATACCTGTAGTCCCCAGCTACTTGGGAGCTCTTCCTTGGCTTGAGCCTAGGAAGTCGAGGCTGCAGTTAGCTGTGATTGTGTCACTGCGCTCCAGATCGAGCAATCTTATCTCAAAAAATAACAATAAAATAGAATGGGGTGGTAATAACCCACTTGAAGGCTGCTGTGCGGATCACCACAAGACAACATATGAAAAGAGCCCTGTACAATCCTTAGCACATGGTAGGAGCTCAGTAATGGGAAGAATGTTTTTGATGATGACGACAGTGCATCCCTATGCCCCAGGAAGCCTCTGACCCTTACAGGCTTGTTTTCTCCCAGTTCTTCCTGCAATCTCCAGTCTCACCCTCTCCTCACTGATCTCCTTTGTCCCAGGAGCTGGATCAGAGATAAGAGAATCTCTAAGGAACTGAACTCAACTTTGGTCTCTGTCATTTTGGAAAATTACTGGGACCAAGTCAGACTCTTCCCCAAGCAGAAAATCTGAAGCTCATAGCAGAAAAGGATTTGAAATTTGAACCCAGGGCCTTCTCCCAAATTACTTCACCCTGTAGCCACAACAGAAAACAGGCACTAGAAGCATAAAGGACCAGGAAAGGAAGAGAAACAAAAGGAATGATGCCCAGAAAAGCAGGCTGGGCTGGTCCTCACCCACCAATTGACCAAATAGATGAATTCTCTTAAGTCCTATTGGCTGAGAAGAGCCTCCTTACTGCAGAGCTGCCTCCAAACCTAGTCATAACCCATCATTGGACCCAGGCTATAGGTTTCTACACCCAACCCTGGCCTCCAAACCCTGATATCTGCTGGGCCCTTAATCCCAGCCCTGGTCACCTCTCCTACCATTTTAGCTTCCAGGGAAGGGCCTCATATCTGCCCAGTCACCCTTGAGGGCCTCTTATGAAACTCCTTTGGGAAGGGAAGCTGTGGCACTTAGACCAGGACAGTGAGTTGCCTACAGGACATGCACATAAGCTTCTGAGTTCTTTGGCTGCCTTTGACTTTTCTAGGCCCCTGATTGTCACCACATCTCATTTCCCTATAAGTGTTTTGGGGAGAACCAACCAGAGGGACAAGAGAATGATTAGGTATAGAGAGGGTCAAGGGACAAAGATTACCTAGGGTTAGGGTTCAAAGTCTCAATACTACCTTTGGCTCTTAGGGGAATTTTGAGAAAGTTGTCCATGCTCTGGGCCTTAGCTTCCCCACTGAGAATTGGAGGAAAGAGCTTGGCTAGAGTAGCAAAGCCACAAGGTTAGATAGTAAGGGAGCAGACAGAAGGATGGCATGTAGAATGTGGCAAGAGCAGGAAGACAGGGATGGGGAGAAGTCAAGAGAACAGCAAAAGACAGGGTAGAGACAGGAGCAAAGCACAGGAAAGTACACCTTAGCTCTTCCAACAGGTGCATCTCTTGGGCAAGAGCCAGCTGGATCTGGGCCTCTCTGCCCTGGCCAG
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Task1_train_10208
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Given this context: Chromosome 6, gene SCUBE3 (signal peptide, CUB domain and EGF like domain containing 3) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Abnormality of the skeletal system
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AATTTTTGTATTTTTAGTAGAGATGGGGTTTCATCAAGGTCAGGCTGGTCTCGAACTCCTGACCTCATGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATCATCTATGTCCTTTCCTAACCATCCTCTTTTTTGCTAGATGGTGAGTGGCCTCTTCCTTCAAGTATAGCTGTGTGTGTAGCACCTATTGTTAGAGCTAGGGCCAGGAGACAGAGGGCTAAACACTGGGGATTAGGGCCTGAAGGGCTGCACTTATTAGGCTTCAGGTAGCTGGTGCCAACCTCTGCCAGCTCTGGATGTCTCCATTGTTGGCAGCACAGGGGCCGAGGAAAATCATCCAGGATGGAACATTTTTCCTCTAAAGCTTCTTGGCTCCATGGTGGGCAAGTGGAAGCAGGCCTGGTCTCAAGCAGAATCATGACACAGATGAAGATCCCTCAGATGCCCCATCCCCCTTTCTTCCTCCTTTACTAGTGATTGCTGGACCCTGCCACCTTCCCAGAGACCACTGTTCCCATGCCTTTTCCCTTAACTTTCCCTCTAAGCCTTCTCCGTAAACTCATTCACTTTAAGTTGATTATTCCTAATCAAGTTAAGTGTACTACCCACTCTAAGGGTTTTTTGTTTGTTTTCAAATAAAAAAAGGAGTGTTTCGAATGATGGAGTTTTAGCTGTCACTGTGAATTTAGTATTTTTGAGGGCAGTGGGGGTTCCTTCTGAATTCCCAAAATCAGTGTCTGCCTACTCTGAAATCAGAGAGATGTGAGACAGCACCTGTTTCTGGAGGGGGTCACTGCCTCTGTTTTAGAGAAGAGGGGATTCTGCCCTTGGAAGCCCACCTTCAAGACACCCCTTAAGAGGTGCCAACAGAGGTTCTCATGTGCCCCCTCTGCCCCTGCCAGATGTGGATGAGTGTGTGGAGGGGACTGACAACTGCCACATCGATGCTATCTGCCAGAACACCCCGAGGTCATACAAGTGCATCTGCAAGTCTGGCTACACAGGGGACGGCAAACACTGCAAAGGTGAGGCTGGAAGGGCACCTGGAGGAGAGGGACCTGTGGAAGAAGGCAAACCAGTGCCACTGCCCTCAGTTGGCCACTCTCCATCACATCAAGGCTAGAAATTCCACTGGTCAAGTGGTGGGGGGGTGGTGAGGGGGGCAACTGCATCTTCCCAGAGAGGGTGCCATTTTCTAATTTGCACAAAGGCACCATGCAGGCTAGCAGAGGCCCTGGTGGGGACAGTTCACAGCCCACAACCTGGCTGGGGTGGGAGCATGAAAATCATAAGACTAAGACCTGAGGTTCCCTGACATTGGAACCTTTATCTTTAGACCCTTACACCACATCCACAATGGATGGGAACAGAAAGTGTGCTTCAGAGGAAGTTCATAATGTAAACACATCTTCCCCTCATAATTAAATCAATGCAAATTAAAGTAGCCTTGAGATATTAAATTTATGAGCTTCAGTGTTGGTGAGACTTTAGTGGACAGGGTACACTTGTTAATTCCTAGTTGCATTATAAATTGAAAAGTAATTTTGTAATACCTACCAGGAATCTTAAAAGGTATTTCCTTTGATCCAGGAATTTTACTCTTGGGGACTTATTCAAAGTAACAAAATAATACATGGGAGAAGATGTTCTTTGATGCATTATCTATGATGGTAAAATAAATTAAAGAAATCTAAATCTCTAACAATAGAGAAAAAAATAGAAAAATAATATTCTGCAACCATGTACAATGGTAATTAGAAAGACTGGATGGAGACCTGAAAATGTTCATGACTTAGGTTTAAATGAAAACAGAAAAATGCTAAATGGCTTATAGGCCATGAACATAACTATGTAAACACAACCATAAGGCTGAGTCTGGGGGTGGACAGTGGGTTCGCAGGTGGGTTCAGCTGTCTCAGCTTCCCTTTGCCCACAGACGTGGATGAGTGCGAGCGAGAGGATAATGCAGGTTGTGTGCATGACTGTGTCAACATCCCTGGCAATTACCGGTGTACCTGCTATGATGGATTCCACCTGGCACATGACGGACACAACTGTCTGGGTAAGCAAAGGAGAGGGGATTTGGTGGAGGGATGTCTTGTGGAGAAAGAGATCTTTTCAGCATTTCCTATTTCCCAGGGAAGGAGGAGAGAGTGATCAAGAAGAGCTACATTCACAAGAGAATAAGGTCAGCCTCCCCTTTGAGACTGGCCACTTAGGATGAAAAATCCTGCTGGATGAAAAACATTAGAGGAAAAGCTGCTACGAAATGCTCCTAGGGCAAGGGCCAGGAGATGGGAATAGTGGGTTTAGCCAGTGGTGAGGCATGGTAGGAAGCTGATTTGGCTCCACACAGATATCTTGGTTCTGCTGCTTACTAGCCTTGGGTCTTGGGCAAATCAGCCAATCTCTGGAAATCTCATCTTTCTCCTCTCTAAAATGGGGGTGGGACCAGGTGTGGTAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGAGGGACTGCTAGAGCCCAGGAGTTCAAGACAGGCCTGGGCAACATAGTGAGACCCTGTTTCTACAAAAAATAATAATAATAAAAATTAGTCAGTCATGATGGTGCATACCTGTAGTCCCCAGCTACTTGGGAGCTCTTCCTTGGCTTGAGCCTAGGAAGTCGAGGCTGCAGTTAGCTGTGATTGTGTCACTGCGCTCCAGATCGAGCAATCTTATCTCAAAAAATAACAATAAAATAGAATGGGGTGGTAATAACCCACTTGAAGGCTGCTGTGCGGATCACCACAAGACAACATATGAAAAGAGCCCTGTACAATCCTTAGCACATGGTAGGAGCTCAGTAATGGGAAGAATGTTTTTGATGATGACGACAGTGCATCCCTATGCCCCAGGAAGCCTCTGACCCTTACAGGCTTGTTTTCTCCCAGTTCTTCCTGCAATCTCCAGTCTCACCCTCTCCTCACTGATCTCCTTTGTCCCAGGAGCTGGATCAGAGATAAGAGAATCTCTAAGGAACTGAACTCAACTTTGGTCTCTGTCATTTTGGAAAATTACTGGGACCAAGTCAGACTCTTCCCCAAGCAGAAAATCTGAAGCTCATAGCAGAAAAGGATTTGAAATTTGAACCCAGGGCCTTCTCCCAAATTACTTCACCCTGTAGCCACAACAGAAAACAGGCACTAGAAGCATAAAGGACCAGGAAAGGAAGAGAAACAAAAGGAATGATGCCCAGAAAAGCAGGCTGGGCTGGTCCTCACCCACCAATTGACCAAATAGATGAATTCTCTTAAGTCCTATTGGCTGAGAAGAGCCTCCTTACTGCAGAGCTGCCTCCAAACCTAGTCATAACCCATCATTGGACCCAGGCTATAGGTTTCTACACCCAACCCTGGCCTCCAAACCCTGATATCTGCTGGGCCCTTAATCCCAGCCCTGGTCACCTCTCCTACCATTTTAGCTTCCAGGGAAGGGCCTCATATCTGCCCAGTCACCCTTGAGGGCCTCTTATGAAACTCCTTTGGGAAGGGAAGCTGTGGCACTTAGACCAGGACAGTGAGTTGCCTACAGGACATGCACATAAGCTTCTGAGTTCTTTGGCTGCCTTTGACTTTTCTAGGCCCCTGATTGTCACCACATCTCATTTCCCTATAAGTGTTTTGGGGAGAACCAACCAGAGGGACAAGAGAATGATTAGGTATAGAGAGGGTCAAGGGACAAAGATTACCTAGGGTTAGGGTTCAAAGTCTCAATACTACCTTTGGCTCTTAGGGGAATTTTGAGAAAGTTGTCCATGCTCTGGGCCTTAGCTTCCCCACTGAGAATTGGAGGAAAGAGCTTGGCTAGAGTAGCAAAGCCACAAGGTTAGATAGTAAGGGAGCAGACAGAAGGATGGCATGTAGAATGTGGCAAGAGCAGGAAGACAGGGATGGGGAGAAGTCAAGAGAACAGCAAAAGACAGGGTAGAGACAGGAGCAAAGCACAGGAAAGTACACCTTAGCTCTTCCAACAGGTGCATCTCTTGGGCAAGAGCCAGCTGGATCTGGGCCTCTCTGCCCTGGCCAG
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AATTTTTGTATTTTTAGTAGAGATGGGGTTTCATCAAGGTCAGGCTGGTCTCGAACTCCTGACCTCATGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATCATCTATGTCCTTTCCTAACCATCCTCTTTTTTGCTAGATGGTGAGTGGCCTCTTCCTTCAAGTATAGCTGTGTGTGTAGCACCTATTGTTAGAGCTAGGGCCAGGAGACAGAGGGCTAAACACTGGGGATTAGGGCCTGAAGGGCTGCACTTATTAGGCTTCAGGTAGCTGGTGCCAACCTCTGCCAGCTCTGGATGTCTCCATTGTTGGCAGCACAGGGGCCGAGGAAAATCATCCAGGATGGAACATTTTTCCTCTAAAGCTTCTTGGCTCCATGGTGGGCAAGTGGAAGCAGGCCTGGTCTCAAGCAGAATCATGACACAGATGAAGATCCCTCAGATGCCCCATCCCCCTTTCTTCCTCCTTTACTAGTGATTGCTGGACCCTGCCACCTTCCCAGAGACCACTGTTCCCATGCCTTTTCCCTTAACTTTCCCTCTAAGCCTTCTCCGTAAACTCATTCACTTTAAGTTGATTATTCCTAATCAAGTTAAGTGTACTACCCACTCTAAGGGTTTTTTGTTTGTTTTCAAATAAAAAAAGGAGTGTTTCGAATGATGGAGTTTTAGCTGTCACTGTGAATTTAGTATTTTTGAGGGCAGTGGGGGTTCCTTCTGAATTCCCAAAATCAGTGTCTGCCTACTCTGAAATCAGAGAGATGTGAGACAGCACCTGTTTCTGGAGGGGGTCACTGCCTCTGTTTTAGAGAAGAGGGGATTCTGCCCTTGGAAGCCCACCTTCAAGACACCCCTTAAGAGGTGCCAACAGAGGTTCTCATGTGCCCCCTCTGCCCCTGCCAGATGTGGATGAGTGTGTGGAGGGGACTGACAACTGCCACATCGATGCTATCTGCCAGAACACCCCGAGGTCATACAAGTGCATCTGCAAGTCTGGCTACACAGGGGACGGCAAACACTGCAAAGGTGAGGCTGGAAGGGCACCTGGAGGAGAGGGACCTGTGGAAGAAGGCAAACCAGTGCCACTGCCCTCAGTTGGCCACTCTCCATCACATCAAGGCTAGAAATTCCACTGGTCAAGTGGTGGGGGGGTGGTGAGGGGGGCAACTGCATCTTCCCAGAGAGGGTGCCATTTTCTAATTTGCACAAAGGCACCATGCAGGCTAGCAGAGGCCCTGGTGGGGACAGTTCACAGCCCACAACCTGGCTGGGGTGGGAGCATGAAAATCATAAGACTAAGACCTGAGGTTCCCTGACATTGGAACCTTTATCTTTAGACCCTTACACCACATCCACAATGGATGGGAACAGAAAGTGTGCTTCAGAGGAAGTTCATAATGTAAACACATCTTCCCCTCATAATTAAATCAATGCAAATTAAAGTAGCCTTGAGATATTAAATTTATGAGCTTCAGTGTTGGTGAGACTTTAGTGGACAGGGTACACTTGTTAATTCCTAGTTGCATTATAAATTGAAAAGTAATTTTGTAATACCTACCAGGAATCTTAAAAGGTATTTCCTTTGATCCAGGAATTTTACTCTTGGGGACTTATTCAAAGTAACAAAATAATACATGGGAGAAGATGTTCTTTGATGCATTATCTATGATGGTAAAATAAATTAAAGAAATCTAAATCTCTAACAATAGAGAAAAAAATAGAAAAATAATATTCTGCAACCATGTACAATGGTAATTAGAAAGACTGGATGGAGACCTGAAAATGTTCATGACTTAGGTTTAAATGAAAACAGAAAAATGCTAAATGGCTTATAGGCCATGAACATAACTATGTAAACACAACCATAAGGCTGAGTCTGGGGGTGGACAGTGGGTTCGCAGGTGGGTTCAGCTGTCTCAGCTTCCCTTTGCCCACAGACGTGGATGAGTGCGAGCGAGAGGATAATGCAGGTTGTGTGCATGACTGTGTCAACATCCCTGGCAATTACCGGTGTACCTGGTATGATGGATTCCACCTGGCACATGACGGACACAACTGTCTGGGTAAGCAAAGGAGAGGGGATTTGGTGGAGGGATGTCTTGTGGAGAAAGAGATCTTTTCAGCATTTCCTATTTCCCAGGGAAGGAGGAGAGAGTGATCAAGAAGAGCTACATTCACAAGAGAATAAGGTCAGCCTCCCCTTTGAGACTGGCCACTTAGGATGAAAAATCCTGCTGGATGAAAAACATTAGAGGAAAAGCTGCTACGAAATGCTCCTAGGGCAAGGGCCAGGAGATGGGAATAGTGGGTTTAGCCAGTGGTGAGGCATGGTAGGAAGCTGATTTGGCTCCACACAGATATCTTGGTTCTGCTGCTTACTAGCCTTGGGTCTTGGGCAAATCAGCCAATCTCTGGAAATCTCATCTTTCTCCTCTCTAAAATGGGGGTGGGACCAGGTGTGGTAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGAGGGACTGCTAGAGCCCAGGAGTTCAAGACAGGCCTGGGCAACATAGTGAGACCCTGTTTCTACAAAAAATAATAATAATAAAAATTAGTCAGTCATGATGGTGCATACCTGTAGTCCCCAGCTACTTGGGAGCTCTTCCTTGGCTTGAGCCTAGGAAGTCGAGGCTGCAGTTAGCTGTGATTGTGTCACTGCGCTCCAGATCGAGCAATCTTATCTCAAAAAATAACAATAAAATAGAATGGGGTGGTAATAACCCACTTGAAGGCTGCTGTGCGGATCACCACAAGACAACATATGAAAAGAGCCCTGTACAATCCTTAGCACATGGTAGGAGCTCAGTAATGGGAAGAATGTTTTTGATGATGACGACAGTGCATCCCTATGCCCCAGGAAGCCTCTGACCCTTACAGGCTTGTTTTCTCCCAGTTCTTCCTGCAATCTCCAGTCTCACCCTCTCCTCACTGATCTCCTTTGTCCCAGGAGCTGGATCAGAGATAAGAGAATCTCTAAGGAACTGAACTCAACTTTGGTCTCTGTCATTTTGGAAAATTACTGGGACCAAGTCAGACTCTTCCCCAAGCAGAAAATCTGAAGCTCATAGCAGAAAAGGATTTGAAATTTGAACCCAGGGCCTTCTCCCAAATTACTTCACCCTGTAGCCACAACAGAAAACAGGCACTAGAAGCATAAAGGACCAGGAAAGGAAGAGAAACAAAAGGAATGATGCCCAGAAAAGCAGGCTGGGCTGGTCCTCACCCACCAATTGACCAAATAGATGAATTCTCTTAAGTCCTATTGGCTGAGAAGAGCCTCCTTACTGCAGAGCTGCCTCCAAACCTAGTCATAACCCATCATTGGACCCAGGCTATAGGTTTCTACACCCAACCCTGGCCTCCAAACCCTGATATCTGCTGGGCCCTTAATCCCAGCCCTGGTCACCTCTCCTACCATTTTAGCTTCCAGGGAAGGGCCTCATATCTGCCCAGTCACCCTTGAGGGCCTCTTATGAAACTCCTTTGGGAAGGGAAGCTGTGGCACTTAGACCAGGACAGTGAGTTGCCTACAGGACATGCACATAAGCTTCTGAGTTCTTTGGCTGCCTTTGACTTTTCTAGGCCCCTGATTGTCACCACATCTCATTTCCCTATAAGTGTTTTGGGGAGAACCAACCAGAGGGACAAGAGAATGATTAGGTATAGAGAGGGTCAAGGGACAAAGATTACCTAGGGTTAGGGTTCAAAGTCTCAATACTACCTTTGGCTCTTAGGGGAATTTTGAGAAAGTTGTCCATGCTCTGGGCCTTAGCTTCCCCACTGAGAATTGGAGGAAAGAGCTTGGCTAGAGTAGCAAAGCCACAAGGTTAGATAGTAAGGGAGCAGACAGAAGGATGGCATGTAGAATGTGGCAAGAGCAGGAAGACAGGGATGGGGAGAAGTCAAGAGAACAGCAAAAGACAGGGTAGAGACAGGAGCAAAGCACAGGAAAGTACACCTTAGCTCTTCCAACAGGTGCATCTCTTGGGCAAGAGCCAGCTGGATCTGGGCCTCTCTGCCCTGGCCAG
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Task1_train_10209
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A variant was discovered in gene SCUBE3 (signal peptide, CUB domain and EGF like domain containing 3), Chromosome 6. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Abnormality of the dentition
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GGAGGGGAGGAAGGACAGGGCTGTGGCCTGTCCACAGAAATGGTCCCTGCTCCACAAGGAGGTGAGGCTCAGCTGCCTTTCCCCACCCTGCCCCTCCAACCTCAGCACCATGGCCATAGCTCTGCCTGCACCCAGAGCCACTTCCCAGGTTCCTACATTCCCTGGCTGCTCATTGCAACCAGCTGCAACCCCCAGTTACCTATCCGACCAATGTGACCAATCTCCATCCTTACCTTCATCACTGTTCCTCTTTCTCTGGCTTCTTTCCTGGTGTCCTCTGTCTTCATACCCAGTTTACACAGGTGAGGGAAAGGGAGGCATGGCTTCACCTAGGTGACATTTGAGGTTCAAAGGTCCCCTTTTCCCCCACTTGCTTAGCTTCCCAGCTCTGCCCTCAGGGCAGCCTTTTTACACTTAGTGAAATATTAGCTGACAAGGGTGTGAGGACTTCCTGGCTTAAGGCTGGGCTTAGGGGGTAGTAGTTCTTAAGACTGCCTTTGGTGCTGAAGTCTTGGGATATACCCTGGACCCTGCCTGTACCCCATGACCCCACTGACTACCTATCCTGCACAGATGTGGACGAGTGTGCCGAGGGCAACGGCGGCTGTCAGCAGAGCTGTGTCAACATGATGGGCAGCTATGAGTGCCACTGCCGGGAAGGCTTCTTCCTCAGCGACAACCAGCATACCTGTATCCAGCGGCCAGAAGGTCAGCCCATGACCTGGGATGGCCCCATCCCTGCCCTCCCCAGGCTTCTCTTCCCAGCTGTCCCTCAGCAGCCCCTAAGTCTCACCCTCCATTCTCAACTCAGCTAGCTCCTTCTTCTCTTGTCCTTCAACTCAATCACACCCTAAAGGATCTAGGAACAGACACCCTGTTAGGGCAAAATCTGGGGAAATTACTTTGAGGTTGGGATCAATATGGGATTAAGGCTACTATGGAGTATCCTCTGTGTCCAGACCTGAGGTGGATGTTGTCCCTAATTGTAGATGGCTGAGCTTCTCTAAGCTGCTGCCTATCTGAGAGGGCCTCACCATATCTTTTTCCTTGGATTGGCATGGGAGGGTCAGGCAGGAATAATGGGTTTATATTGGCTGTTTCTATGACTCATGCCCCCCACTCCCACTAGACTGTGACATCCCTGAGGGCAGGGACTATGTCTAACTCATTGTTGTATCCCCAGCACCTAACATACTGCCCTGCGTGTAGTGAGAGTTTAATAAATGTTTGTTGAATAAAATTGCATAGTAAATATCTATACCAATTACCCTCCACTCTCATTGTAGATCTGATTGCTACTGATCTTCTTCCCAGTTTGACTGTAAGCTCTTTGAGGGGAGTGATCACACCTTGTATTTTTCTAGGACCTTCCTAAATCCACCCCATCTCCAGCACAGTGCTGGACACCTATTATACACAATGTTTTGGTTGTTTAAAGGAAAGGGTGATCATTCGTTGGGATGAGTATCAATAGCTAGCTAGTTATACATCATTCAGAACAGCTCTGTGCTCTGCTCATGAGCACCCAGGTCTGTGGGGAAGACAGGAGGCCTGGGACAAGGAGAGTCAGTCCCCTCGTGTTGAATTCAACCTCAGTAGAATTCTCCCAGTTCCCTAGGTCCCCAGTTGCCCCCTGTAGTTTTTCTTTTCTAGACATCCAGGGGTACAGAGCATTCACACCCCTTTCTTCTCTTTTAGAAGGAATGAATTGCATGAACAAGAACCACGGCTGTGCCCACATTTGCCGGGAGACACCCAAGGGGGGTATTGCCTGTGAATGCCGTCCTGGCTTTGAGCTTACCAAGAACCAACGGGACTGTAAATGTGAGATAATTGGGATGGCAGGTGGGGCAGTGGGGTCGGGGGTGAAAACATAGAGGAAGGGTATAGGGCTTCAGGAGCAAGAGGACAGGGCTGGGAGGAAAAGGGAGTATGGGGGAGGCAACTAGGCAAGGGGGCCAGTACCCACATTGTGGAAAACTGTGGATGCAGGGAGGAGCAAGCTGACAGGGCCCTGTCCTCTCTGTGCACAGTGACATGCAACTATGGTAACGGCGGCTGCCAGCACACGTGTGATGACACAGAGCAGGGTCCCCGGTGCGGCTGCCATATCAAGTTTGTGCTCCATACCGACGGGAAGACATGCATCGGTGGGTGAGGCCAGGGGAGAACTCAGTCCACCTGAGATGGGGTGGGGGTGGGACCCTTTGGGAACCAGGGAAGTGGAGGAGTGCATGGGGCCCAGGTGCTGGGCACAGAGGGACTGGTGAGGGAGTTAAGACCCAGAAAATGCCAGGTCTAGTAAGGGACAACTCAAAGAGAGACTGAAGGGCTCCCCAGCCCTCTTCCCCTCCCCATCCCAGTGGTTTTACCACCCTGTTCCAGGAGCCTCACCACCCTCTTCATCCCAGGACAAAGTGTTGCCAAACTGGGAATAATTAGCAGAGTTGCTTATTGACCAAGGCTGTAGTTGAGAAGTGGGAAGAGATCTGGGGAAATGCATCTGCTTAGGCCTGACCAGAGGCCCTTGGTTGACTAGTGTGATAACAGAGGAATTATCAAAGCCCAGTGTCCCCACTCTGCAACTGAGGGTGGGACAGAGTGCTCCTTCCTGGAACAACCATCCCTGAACTGACTGACAGATGGGGTTTCCTGGCTCCAGGTATCTTTTTCCTCTTTATTCCTTCTCTCCTCACTCTCCTCCTGCAACTCCCCTTTCTACTCACCTCACCTTACCCCCCATTTCCTTCTCTCTCCTCCAGATGCCAGTGGTACTCCCTCTCAGCTCCACCAGCAACCCTGTTTCTTCCTCACCAACTCCAGCCTTCCATCTCTTACCTTGATTTGAGGTCCTCTTAATACCTGGATCCCTCTTCCTGAATTCTTAGGCCTTATCTCACATATTTTCAGGTACCCTAGATGAGTTTAATTCCTTAAAGTTAATTCCTAATTCCTTTAGCCTTTAGGTCTTTAGTGCTGAGAAGGATGATGGAACAAGGTTTCCCCTTGGAGAAGGGGGAAATGAAAGGAAGAGGTTTGGCTGAGAGAGAGGCTGTGTCTTTAGCCAGGCAGGGCATGAGCTTGCTGTGTGGGCATAGGTGTTTATGAATGACTGTCCATCTGGTGGGCTGTGGCATGCTGAGGATGGGGGTGTGTGAATCCAGTCACTGTGTATGAAGTTATGTATATCAGAGACATGACATTAACTGAGGAACTAGACTTTCCAGGGACCTGTCCCTTTCACTGCAGGAATAGGAACTGGAGAGCAGATGATGCTCTTACAGGGCTCCCTCAGGCACTTGCTCCAGAGACTGGCACATCCATTTCTAAAGTCCCTATATAATTAAAATCTCCCCTGCCACGTTTCCCTCTGAATTAACTCTTCAAAGACCCCAGAACATTTTTAGGCTCTTCTCATTGCCTTCTTTGGGCTGGTGTGTTTCAGCTCCTTTCATTTTTTACTCATAGGTCTAATTATTTTGCTTTTCAAAGCTCTCACCACCTCCTGGACACATTCACACATCCCCAGTCTCTCAAAAGAAATTGTTTGCAGTGCCCAAAGAAAAGATGCATGAGTCAGGGGCCAGGGATGTGAAGGTCTGATCCCTCTCTGATTTATTTCTGTTCAAAGTTCCAGACATGGTTGCTTCTGAAAACACCCTTACTGAGCTTGGGCTCTTCTCTAACTCAAGACCTGTTCCACCACTGGGCTGTGGCCAAATGAGGCAGAAAAGGCCAAATGAGGCAGAAAAGACCAAATGAGGCTATTCTGGGGTTTACAGCTATATTCTTTCCTAGTTCCTCTTCCTCTTCTCCAATAGAACTTATTTTACCTTGCCATATATCTAATTTTTCTGGCCATCCCTGGTAAGAGGAAACATCATTGCCTGGGGCCGTCAGGACATTCAGATTCGGTGGGAAGACTGAGAAGGCAGTATAGTTTAGCAGAAAGGGCGGCACCCTTTGGGATTTGGGATTTTGTGGTTAGTAAGACTTGAGGGTGCATCCCAGCTTAGGCTTGAGCATGCTCTGTGGTACTGGGCACATGGTTGGTTGCCCTTTCTGAGACTGTTTCAGTTTTTCAGTCACTTGCGGG
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GGAGGGGAGGAAGGACAGGGCTGTGGCCTGTCCACAGAAATGGTCCCTGCTCCACAAGGAGGTGAGGCTCAGCTGCCTTTCCCCACCCTGCCCCTCCAACCTCAGCACCATGGCCATAGCTCTGCCTGCACCCAGAGCCACTTCCCAGGTTCCTACATTCCCTGGCTGCTCATTGCAACCAGCTGCAACCCCCAGTTACCTATCCGACCAATGTGACCAATCTCCATCCTTACCTTCATCACTGTTCCTCTTTCTCTGGCTTCTTTCCTGGTGTCCTCTGTCTTCATACCCAGTTTACACAGGTGAGGGAAAGGGAGGCATGGCTTCACCTAGGTGACATTTGAGGTTCAAAGGTCCCCTTTTCCCCCACTTGCTTAGCTTCCCAGCTCTGCCCTCAGGGCAGCCTTTTTACACTTAGTGAAATATTAGCTGACAAGGGTGTGAGGACTTCCTGGCTTAAGGCTGGGCTTAGGGGGTAGTAGTTCTTAAGACTGCCTTTGGTGCTGAAGTCTTGGGATATACCCTGGACCCTGCCTGTACCCCATGACCCCACTGACTACCTATCCTGCACAGATGTGGACGAGTGTGCCGAGGGCAACGGCGGCTGTCAGCAGAGCTGTGTCAACATGATGGGCAGCTATGAGTGCCACTGCCGGGAAGGCTTCTTCCTCAGCGACAACCAGCATACCTGTATCCAGCGGCCAGAAGGTCAGCCCATGACCTGGGATGGCCCCATCCCTGCCCTCCCCAGGCTTCTCTTCCCAGCTGTCCCTCAGCAGCCCCTAAGTCTCACCCTCCATTCTCAACTCAGCTAGCTCCTTCTTCTCTTGTCCTTCAACTCAATCACACCCTAAAGGATCTAGGAACAGACACCCTGTTAGGGCAAAATCTGGGGAAATTACTTTGAGGTTGGGATCAATATGGGATTAAGGCTACTATGGAGTATCCTCTGTGTCCAGACCTGAGGTGGATGTTGTCCCTAATTGTAGATGGCTGAGCTTCTCTAAGCTGCTGCCTATCTGAGAGGGCCTCACCATATCTTTTTCCTTGGATTGGCATGGGAGGGTCAGGCAGGAATAATGGGTTTATATTGGCTGTTTCTATGACTCATGCCCCCCACTCCCACTAGACTGTGACATCCCTGAGGGCAGGGACTATGTCTAACTCATTGTTGTATCCCCAGCACCTAACATACTGCCCTGCGTGTAGTGAGAGTTTAATAAATGTTTGTTGAATAAAATTGCATAGTAAATATCTATACCAATTACCCTCCACTCTCATTGTAGATCTGATTGCTACTGATCTTCTTCCCAGTTTGACTGTAAGCTCTTTGAGGGGAGTGATCACACCTTGTATTTTTCTAGGACCTTCCTAAATCCACCCCATCTCCAGCACAGTGCTGGACACCTATTATACACAATGTTTTGGTTGTTTAAAGGAAAGGGTGATCATTCGTTGGGATGAGTATCAATAGCTAGCTAGTTATACATCATTCAGAACAGCTCTGTGCTCTGCTCATGAGCACCCAGGTCTGTGGGGAAGACAGGAGGCCTGGGACAAGGAGAGTCAGTCCCCTCGTGTTGAATTCAACCTCAGTAGAATTCTCCCAGTTCCCTAGGTCCCCAGTTGCCCCCTGTAGTTTTTCTTTTCTAGACATCCAGGGGTACAGAGCATTCACACCCCTTTCTTCTCTTTTAGAAGGAATGAATTGCATGAACAAGAACCACGGCTGTGCCCACATTTGCCGGGAGACACCCAAGGGGGGTATTGCCTGTGAATGCCGTCCTGGCTTTGAGCTTACCAAGAACCAACGGGACTGTAAATGTGAGATAATTGGGATGGCAGGTGGGGCAGTGGGGTCGGGGGTGAAAACATAGAGGAAGGGTATAGGGCTTCAGGAGCAAGAGGACAGGGCTGGGAGGAAAAGGGAGTATGGGGGAGGCAACTAGGCAAGGGGGCCAGTACCCACATTGTGGAAAACTGTGGATGCAGGGAGGAGCAAGCTGACAGGGCCCTGTCCTCTCTGTGCACAGTGACATGCAACTATGATAACGGCGGCTGCCAGCACACGTGTGATGACACAGAGCAGGGTCCCCGGTGCGGCTGCCATATCAAGTTTGTGCTCCATACCGACGGGAAGACATGCATCGGTGGGTGAGGCCAGGGGAGAACTCAGTCCACCTGAGATGGGGTGGGGGTGGGACCCTTTGGGAACCAGGGAAGTGGAGGAGTGCATGGGGCCCAGGTGCTGGGCACAGAGGGACTGGTGAGGGAGTTAAGACCCAGAAAATGCCAGGTCTAGTAAGGGACAACTCAAAGAGAGACTGAAGGGCTCCCCAGCCCTCTTCCCCTCCCCATCCCAGTGGTTTTACCACCCTGTTCCAGGAGCCTCACCACCCTCTTCATCCCAGGACAAAGTGTTGCCAAACTGGGAATAATTAGCAGAGTTGCTTATTGACCAAGGCTGTAGTTGAGAAGTGGGAAGAGATCTGGGGAAATGCATCTGCTTAGGCCTGACCAGAGGCCCTTGGTTGACTAGTGTGATAACAGAGGAATTATCAAAGCCCAGTGTCCCCACTCTGCAACTGAGGGTGGGACAGAGTGCTCCTTCCTGGAACAACCATCCCTGAACTGACTGACAGATGGGGTTTCCTGGCTCCAGGTATCTTTTTCCTCTTTATTCCTTCTCTCCTCACTCTCCTCCTGCAACTCCCCTTTCTACTCACCTCACCTTACCCCCCATTTCCTTCTCTCTCCTCCAGATGCCAGTGGTACTCCCTCTCAGCTCCACCAGCAACCCTGTTTCTTCCTCACCAACTCCAGCCTTCCATCTCTTACCTTGATTTGAGGTCCTCTTAATACCTGGATCCCTCTTCCTGAATTCTTAGGCCTTATCTCACATATTTTCAGGTACCCTAGATGAGTTTAATTCCTTAAAGTTAATTCCTAATTCCTTTAGCCTTTAGGTCTTTAGTGCTGAGAAGGATGATGGAACAAGGTTTCCCCTTGGAGAAGGGGGAAATGAAAGGAAGAGGTTTGGCTGAGAGAGAGGCTGTGTCTTTAGCCAGGCAGGGCATGAGCTTGCTGTGTGGGCATAGGTGTTTATGAATGACTGTCCATCTGGTGGGCTGTGGCATGCTGAGGATGGGGGTGTGTGAATCCAGTCACTGTGTATGAAGTTATGTATATCAGAGACATGACATTAACTGAGGAACTAGACTTTCCAGGGACCTGTCCCTTTCACTGCAGGAATAGGAACTGGAGAGCAGATGATGCTCTTACAGGGCTCCCTCAGGCACTTGCTCCAGAGACTGGCACATCCATTTCTAAAGTCCCTATATAATTAAAATCTCCCCTGCCACGTTTCCCTCTGAATTAACTCTTCAAAGACCCCAGAACATTTTTAGGCTCTTCTCATTGCCTTCTTTGGGCTGGTGTGTTTCAGCTCCTTTCATTTTTTACTCATAGGTCTAATTATTTTGCTTTTCAAAGCTCTCACCACCTCCTGGACACATTCACACATCCCCAGTCTCTCAAAAGAAATTGTTTGCAGTGCCCAAAGAAAAGATGCATGAGTCAGGGGCCAGGGATGTGAAGGTCTGATCCCTCTCTGATTTATTTCTGTTCAAAGTTCCAGACATGGTTGCTTCTGAAAACACCCTTACTGAGCTTGGGCTCTTCTCTAACTCAAGACCTGTTCCACCACTGGGCTGTGGCCAAATGAGGCAGAAAAGGCCAAATGAGGCAGAAAAGACCAAATGAGGCTATTCTGGGGTTTACAGCTATATTCTTTCCTAGTTCCTCTTCCTCTTCTCCAATAGAACTTATTTTACCTTGCCATATATCTAATTTTTCTGGCCATCCCTGGTAAGAGGAAACATCATTGCCTGGGGCCGTCAGGACATTCAGATTCGGTGGGAAGACTGAGAAGGCAGTATAGTTTAGCAGAAAGGGCGGCACCCTTTGGGATTTGGGATTTTGTGGTTAGTAAGACTTGAGGGTGCATCCCAGCTTAGGCTTGAGCATGCTCTGTGGTACTGGGCACATGGTTGGTTGCCCTTTCTGAGACTGTTTCAGTTTTTCAGTCACTTGCGGG
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Task1_train_10210
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With a mutation on Chromosome 6 in gene SCUBE3 (signal peptide, CUB domain and EGF like domain containing 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Short stature
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GGAGGGGAGGAAGGACAGGGCTGTGGCCTGTCCACAGAAATGGTCCCTGCTCCACAAGGAGGTGAGGCTCAGCTGCCTTTCCCCACCCTGCCCCTCCAACCTCAGCACCATGGCCATAGCTCTGCCTGCACCCAGAGCCACTTCCCAGGTTCCTACATTCCCTGGCTGCTCATTGCAACCAGCTGCAACCCCCAGTTACCTATCCGACCAATGTGACCAATCTCCATCCTTACCTTCATCACTGTTCCTCTTTCTCTGGCTTCTTTCCTGGTGTCCTCTGTCTTCATACCCAGTTTACACAGGTGAGGGAAAGGGAGGCATGGCTTCACCTAGGTGACATTTGAGGTTCAAAGGTCCCCTTTTCCCCCACTTGCTTAGCTTCCCAGCTCTGCCCTCAGGGCAGCCTTTTTACACTTAGTGAAATATTAGCTGACAAGGGTGTGAGGACTTCCTGGCTTAAGGCTGGGCTTAGGGGGTAGTAGTTCTTAAGACTGCCTTTGGTGCTGAAGTCTTGGGATATACCCTGGACCCTGCCTGTACCCCATGACCCCACTGACTACCTATCCTGCACAGATGTGGACGAGTGTGCCGAGGGCAACGGCGGCTGTCAGCAGAGCTGTGTCAACATGATGGGCAGCTATGAGTGCCACTGCCGGGAAGGCTTCTTCCTCAGCGACAACCAGCATACCTGTATCCAGCGGCCAGAAGGTCAGCCCATGACCTGGGATGGCCCCATCCCTGCCCTCCCCAGGCTTCTCTTCCCAGCTGTCCCTCAGCAGCCCCTAAGTCTCACCCTCCATTCTCAACTCAGCTAGCTCCTTCTTCTCTTGTCCTTCAACTCAATCACACCCTAAAGGATCTAGGAACAGACACCCTGTTAGGGCAAAATCTGGGGAAATTACTTTGAGGTTGGGATCAATATGGGATTAAGGCTACTATGGAGTATCCTCTGTGTCCAGACCTGAGGTGGATGTTGTCCCTAATTGTAGATGGCTGAGCTTCTCTAAGCTGCTGCCTATCTGAGAGGGCCTCACCATATCTTTTTCCTTGGATTGGCATGGGAGGGTCAGGCAGGAATAATGGGTTTATATTGGCTGTTTCTATGACTCATGCCCCCCACTCCCACTAGACTGTGACATCCCTGAGGGCAGGGACTATGTCTAACTCATTGTTGTATCCCCAGCACCTAACATACTGCCCTGCGTGTAGTGAGAGTTTAATAAATGTTTGTTGAATAAAATTGCATAGTAAATATCTATACCAATTACCCTCCACTCTCATTGTAGATCTGATTGCTACTGATCTTCTTCCCAGTTTGACTGTAAGCTCTTTGAGGGGAGTGATCACACCTTGTATTTTTCTAGGACCTTCCTAAATCCACCCCATCTCCAGCACAGTGCTGGACACCTATTATACACAATGTTTTGGTTGTTTAAAGGAAAGGGTGATCATTCGTTGGGATGAGTATCAATAGCTAGCTAGTTATACATCATTCAGAACAGCTCTGTGCTCTGCTCATGAGCACCCAGGTCTGTGGGGAAGACAGGAGGCCTGGGACAAGGAGAGTCAGTCCCCTCGTGTTGAATTCAACCTCAGTAGAATTCTCCCAGTTCCCTAGGTCCCCAGTTGCCCCCTGTAGTTTTTCTTTTCTAGACATCCAGGGGTACAGAGCATTCACACCCCTTTCTTCTCTTTTAGAAGGAATGAATTGCATGAACAAGAACCACGGCTGTGCCCACATTTGCCGGGAGACACCCAAGGGGGGTATTGCCTGTGAATGCCGTCCTGGCTTTGAGCTTACCAAGAACCAACGGGACTGTAAATGTGAGATAATTGGGATGGCAGGTGGGGCAGTGGGGTCGGGGGTGAAAACATAGAGGAAGGGTATAGGGCTTCAGGAGCAAGAGGACAGGGCTGGGAGGAAAAGGGAGTATGGGGGAGGCAACTAGGCAAGGGGGCCAGTACCCACATTGTGGAAAACTGTGGATGCAGGGAGGAGCAAGCTGACAGGGCCCTGTCCTCTCTGTGCACAGTGACATGCAACTATGGTAACGGCGGCTGCCAGCACACGTGTGATGACACAGAGCAGGGTCCCCGGTGCGGCTGCCATATCAAGTTTGTGCTCCATACCGACGGGAAGACATGCATCGGTGGGTGAGGCCAGGGGAGAACTCAGTCCACCTGAGATGGGGTGGGGGTGGGACCCTTTGGGAACCAGGGAAGTGGAGGAGTGCATGGGGCCCAGGTGCTGGGCACAGAGGGACTGGTGAGGGAGTTAAGACCCAGAAAATGCCAGGTCTAGTAAGGGACAACTCAAAGAGAGACTGAAGGGCTCCCCAGCCCTCTTCCCCTCCCCATCCCAGTGGTTTTACCACCCTGTTCCAGGAGCCTCACCACCCTCTTCATCCCAGGACAAAGTGTTGCCAAACTGGGAATAATTAGCAGAGTTGCTTATTGACCAAGGCTGTAGTTGAGAAGTGGGAAGAGATCTGGGGAAATGCATCTGCTTAGGCCTGACCAGAGGCCCTTGGTTGACTAGTGTGATAACAGAGGAATTATCAAAGCCCAGTGTCCCCACTCTGCAACTGAGGGTGGGACAGAGTGCTCCTTCCTGGAACAACCATCCCTGAACTGACTGACAGATGGGGTTTCCTGGCTCCAGGTATCTTTTTCCTCTTTATTCCTTCTCTCCTCACTCTCCTCCTGCAACTCCCCTTTCTACTCACCTCACCTTACCCCCCATTTCCTTCTCTCTCCTCCAGATGCCAGTGGTACTCCCTCTCAGCTCCACCAGCAACCCTGTTTCTTCCTCACCAACTCCAGCCTTCCATCTCTTACCTTGATTTGAGGTCCTCTTAATACCTGGATCCCTCTTCCTGAATTCTTAGGCCTTATCTCACATATTTTCAGGTACCCTAGATGAGTTTAATTCCTTAAAGTTAATTCCTAATTCCTTTAGCCTTTAGGTCTTTAGTGCTGAGAAGGATGATGGAACAAGGTTTCCCCTTGGAGAAGGGGGAAATGAAAGGAAGAGGTTTGGCTGAGAGAGAGGCTGTGTCTTTAGCCAGGCAGGGCATGAGCTTGCTGTGTGGGCATAGGTGTTTATGAATGACTGTCCATCTGGTGGGCTGTGGCATGCTGAGGATGGGGGTGTGTGAATCCAGTCACTGTGTATGAAGTTATGTATATCAGAGACATGACATTAACTGAGGAACTAGACTTTCCAGGGACCTGTCCCTTTCACTGCAGGAATAGGAACTGGAGAGCAGATGATGCTCTTACAGGGCTCCCTCAGGCACTTGCTCCAGAGACTGGCACATCCATTTCTAAAGTCCCTATATAATTAAAATCTCCCCTGCCACGTTTCCCTCTGAATTAACTCTTCAAAGACCCCAGAACATTTTTAGGCTCTTCTCATTGCCTTCTTTGGGCTGGTGTGTTTCAGCTCCTTTCATTTTTTACTCATAGGTCTAATTATTTTGCTTTTCAAAGCTCTCACCACCTCCTGGACACATTCACACATCCCCAGTCTCTCAAAAGAAATTGTTTGCAGTGCCCAAAGAAAAGATGCATGAGTCAGGGGCCAGGGATGTGAAGGTCTGATCCCTCTCTGATTTATTTCTGTTCAAAGTTCCAGACATGGTTGCTTCTGAAAACACCCTTACTGAGCTTGGGCTCTTCTCTAACTCAAGACCTGTTCCACCACTGGGCTGTGGCCAAATGAGGCAGAAAAGGCCAAATGAGGCAGAAAAGACCAAATGAGGCTATTCTGGGGTTTACAGCTATATTCTTTCCTAGTTCCTCTTCCTCTTCTCCAATAGAACTTATTTTACCTTGCCATATATCTAATTTTTCTGGCCATCCCTGGTAAGAGGAAACATCATTGCCTGGGGCCGTCAGGACATTCAGATTCGGTGGGAAGACTGAGAAGGCAGTATAGTTTAGCAGAAAGGGCGGCACCCTTTGGGATTTGGGATTTTGTGGTTAGTAAGACTTGAGGGTGCATCCCAGCTTAGGCTTGAGCATGCTCTGTGGTACTGGGCACATGGTTGGTTGCCCTTTCTGAGACTGTTTCAGTTTTTCAGTCACTTGCGGG
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GGAGGGGAGGAAGGACAGGGCTGTGGCCTGTCCACAGAAATGGTCCCTGCTCCACAAGGAGGTGAGGCTCAGCTGCCTTTCCCCACCCTGCCCCTCCAACCTCAGCACCATGGCCATAGCTCTGCCTGCACCCAGAGCCACTTCCCAGGTTCCTACATTCCCTGGCTGCTCATTGCAACCAGCTGCAACCCCCAGTTACCTATCCGACCAATGTGACCAATCTCCATCCTTACCTTCATCACTGTTCCTCTTTCTCTGGCTTCTTTCCTGGTGTCCTCTGTCTTCATACCCAGTTTACACAGGTGAGGGAAAGGGAGGCATGGCTTCACCTAGGTGACATTTGAGGTTCAAAGGTCCCCTTTTCCCCCACTTGCTTAGCTTCCCAGCTCTGCCCTCAGGGCAGCCTTTTTACACTTAGTGAAATATTAGCTGACAAGGGTGTGAGGACTTCCTGGCTTAAGGCTGGGCTTAGGGGGTAGTAGTTCTTAAGACTGCCTTTGGTGCTGAAGTCTTGGGATATACCCTGGACCCTGCCTGTACCCCATGACCCCACTGACTACCTATCCTGCACAGATGTGGACGAGTGTGCCGAGGGCAACGGCGGCTGTCAGCAGAGCTGTGTCAACATGATGGGCAGCTATGAGTGCCACTGCCGGGAAGGCTTCTTCCTCAGCGACAACCAGCATACCTGTATCCAGCGGCCAGAAGGTCAGCCCATGACCTGGGATGGCCCCATCCCTGCCCTCCCCAGGCTTCTCTTCCCAGCTGTCCCTCAGCAGCCCCTAAGTCTCACCCTCCATTCTCAACTCAGCTAGCTCCTTCTTCTCTTGTCCTTCAACTCAATCACACCCTAAAGGATCTAGGAACAGACACCCTGTTAGGGCAAAATCTGGGGAAATTACTTTGAGGTTGGGATCAATATGGGATTAAGGCTACTATGGAGTATCCTCTGTGTCCAGACCTGAGGTGGATGTTGTCCCTAATTGTAGATGGCTGAGCTTCTCTAAGCTGCTGCCTATCTGAGAGGGCCTCACCATATCTTTTTCCTTGGATTGGCATGGGAGGGTCAGGCAGGAATAATGGGTTTATATTGGCTGTTTCTATGACTCATGCCCCCCACTCCCACTAGACTGTGACATCCCTGAGGGCAGGGACTATGTCTAACTCATTGTTGTATCCCCAGCACCTAACATACTGCCCTGCGTGTAGTGAGAGTTTAATAAATGTTTGTTGAATAAAATTGCATAGTAAATATCTATACCAATTACCCTCCACTCTCATTGTAGATCTGATTGCTACTGATCTTCTTCCCAGTTTGACTGTAAGCTCTTTGAGGGGAGTGATCACACCTTGTATTTTTCTAGGACCTTCCTAAATCCACCCCATCTCCAGCACAGTGCTGGACACCTATTATACACAATGTTTTGGTTGTTTAAAGGAAAGGGTGATCATTCGTTGGGATGAGTATCAATAGCTAGCTAGTTATACATCATTCAGAACAGCTCTGTGCTCTGCTCATGAGCACCCAGGTCTGTGGGGAAGACAGGAGGCCTGGGACAAGGAGAGTCAGTCCCCTCGTGTTGAATTCAACCTCAGTAGAATTCTCCCAGTTCCCTAGGTCCCCAGTTGCCCCCTGTAGTTTTTCTTTTCTAGACATCCAGGGGTACAGAGCATTCACACCCCTTTCTTCTCTTTTAGAAGGAATGAATTGCATGAACAAGAACCACGGCTGTGCCCACATTTGCCGGGAGACACCCAAGGGGGGTATTGCCTGTGAATGCCGTCCTGGCTTTGAGCTTACCAAGAACCAACGGGACTGTAAATGTGAGATAATTGGGATGGCAGGTGGGGCAGTGGGGTCGGGGGTGAAAACATAGAGGAAGGGTATAGGGCTTCAGGAGCAAGAGGACAGGGCTGGGAGGAAAAGGGAGTATGGGGGAGGCAACTAGGCAAGGGGGCCAGTACCCACATTGTGGAAAACTGTGGATGCAGGGAGGAGCAAGCTGACAGGGCCCTGTCCTCTCTGTGCACAGTGACATGCAACTATGATAACGGCGGCTGCCAGCACACGTGTGATGACACAGAGCAGGGTCCCCGGTGCGGCTGCCATATCAAGTTTGTGCTCCATACCGACGGGAAGACATGCATCGGTGGGTGAGGCCAGGGGAGAACTCAGTCCACCTGAGATGGGGTGGGGGTGGGACCCTTTGGGAACCAGGGAAGTGGAGGAGTGCATGGGGCCCAGGTGCTGGGCACAGAGGGACTGGTGAGGGAGTTAAGACCCAGAAAATGCCAGGTCTAGTAAGGGACAACTCAAAGAGAGACTGAAGGGCTCCCCAGCCCTCTTCCCCTCCCCATCCCAGTGGTTTTACCACCCTGTTCCAGGAGCCTCACCACCCTCTTCATCCCAGGACAAAGTGTTGCCAAACTGGGAATAATTAGCAGAGTTGCTTATTGACCAAGGCTGTAGTTGAGAAGTGGGAAGAGATCTGGGGAAATGCATCTGCTTAGGCCTGACCAGAGGCCCTTGGTTGACTAGTGTGATAACAGAGGAATTATCAAAGCCCAGTGTCCCCACTCTGCAACTGAGGGTGGGACAGAGTGCTCCTTCCTGGAACAACCATCCCTGAACTGACTGACAGATGGGGTTTCCTGGCTCCAGGTATCTTTTTCCTCTTTATTCCTTCTCTCCTCACTCTCCTCCTGCAACTCCCCTTTCTACTCACCTCACCTTACCCCCCATTTCCTTCTCTCTCCTCCAGATGCCAGTGGTACTCCCTCTCAGCTCCACCAGCAACCCTGTTTCTTCCTCACCAACTCCAGCCTTCCATCTCTTACCTTGATTTGAGGTCCTCTTAATACCTGGATCCCTCTTCCTGAATTCTTAGGCCTTATCTCACATATTTTCAGGTACCCTAGATGAGTTTAATTCCTTAAAGTTAATTCCTAATTCCTTTAGCCTTTAGGTCTTTAGTGCTGAGAAGGATGATGGAACAAGGTTTCCCCTTGGAGAAGGGGGAAATGAAAGGAAGAGGTTTGGCTGAGAGAGAGGCTGTGTCTTTAGCCAGGCAGGGCATGAGCTTGCTGTGTGGGCATAGGTGTTTATGAATGACTGTCCATCTGGTGGGCTGTGGCATGCTGAGGATGGGGGTGTGTGAATCCAGTCACTGTGTATGAAGTTATGTATATCAGAGACATGACATTAACTGAGGAACTAGACTTTCCAGGGACCTGTCCCTTTCACTGCAGGAATAGGAACTGGAGAGCAGATGATGCTCTTACAGGGCTCCCTCAGGCACTTGCTCCAGAGACTGGCACATCCATTTCTAAAGTCCCTATATAATTAAAATCTCCCCTGCCACGTTTCCCTCTGAATTAACTCTTCAAAGACCCCAGAACATTTTTAGGCTCTTCTCATTGCCTTCTTTGGGCTGGTGTGTTTCAGCTCCTTTCATTTTTTACTCATAGGTCTAATTATTTTGCTTTTCAAAGCTCTCACCACCTCCTGGACACATTCACACATCCCCAGTCTCTCAAAAGAAATTGTTTGCAGTGCCCAAAGAAAAGATGCATGAGTCAGGGGCCAGGGATGTGAAGGTCTGATCCCTCTCTGATTTATTTCTGTTCAAAGTTCCAGACATGGTTGCTTCTGAAAACACCCTTACTGAGCTTGGGCTCTTCTCTAACTCAAGACCTGTTCCACCACTGGGCTGTGGCCAAATGAGGCAGAAAAGGCCAAATGAGGCAGAAAAGACCAAATGAGGCTATTCTGGGGTTTACAGCTATATTCTTTCCTAGTTCCTCTTCCTCTTCTCCAATAGAACTTATTTTACCTTGCCATATATCTAATTTTTCTGGCCATCCCTGGTAAGAGGAAACATCATTGCCTGGGGCCGTCAGGACATTCAGATTCGGTGGGAAGACTGAGAAGGCAGTATAGTTTAGCAGAAAGGGCGGCACCCTTTGGGATTTGGGATTTTGTGGTTAGTAAGACTTGAGGGTGCATCCCAGCTTAGGCTTGAGCATGCTCTGTGGTACTGGGCACATGGTTGGTTGCCCTTTCTGAGACTGTTTCAGTTTTTCAGTCACTTGCGGG
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Task1_train_10211
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Mutation context: Chromosome 6, Gene SCUBE3 (signal peptide, CUB domain and EGF like domain containing 3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Abnormal facial shape
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GGAGGGGAGGAAGGACAGGGCTGTGGCCTGTCCACAGAAATGGTCCCTGCTCCACAAGGAGGTGAGGCTCAGCTGCCTTTCCCCACCCTGCCCCTCCAACCTCAGCACCATGGCCATAGCTCTGCCTGCACCCAGAGCCACTTCCCAGGTTCCTACATTCCCTGGCTGCTCATTGCAACCAGCTGCAACCCCCAGTTACCTATCCGACCAATGTGACCAATCTCCATCCTTACCTTCATCACTGTTCCTCTTTCTCTGGCTTCTTTCCTGGTGTCCTCTGTCTTCATACCCAGTTTACACAGGTGAGGGAAAGGGAGGCATGGCTTCACCTAGGTGACATTTGAGGTTCAAAGGTCCCCTTTTCCCCCACTTGCTTAGCTTCCCAGCTCTGCCCTCAGGGCAGCCTTTTTACACTTAGTGAAATATTAGCTGACAAGGGTGTGAGGACTTCCTGGCTTAAGGCTGGGCTTAGGGGGTAGTAGTTCTTAAGACTGCCTTTGGTGCTGAAGTCTTGGGATATACCCTGGACCCTGCCTGTACCCCATGACCCCACTGACTACCTATCCTGCACAGATGTGGACGAGTGTGCCGAGGGCAACGGCGGCTGTCAGCAGAGCTGTGTCAACATGATGGGCAGCTATGAGTGCCACTGCCGGGAAGGCTTCTTCCTCAGCGACAACCAGCATACCTGTATCCAGCGGCCAGAAGGTCAGCCCATGACCTGGGATGGCCCCATCCCTGCCCTCCCCAGGCTTCTCTTCCCAGCTGTCCCTCAGCAGCCCCTAAGTCTCACCCTCCATTCTCAACTCAGCTAGCTCCTTCTTCTCTTGTCCTTCAACTCAATCACACCCTAAAGGATCTAGGAACAGACACCCTGTTAGGGCAAAATCTGGGGAAATTACTTTGAGGTTGGGATCAATATGGGATTAAGGCTACTATGGAGTATCCTCTGTGTCCAGACCTGAGGTGGATGTTGTCCCTAATTGTAGATGGCTGAGCTTCTCTAAGCTGCTGCCTATCTGAGAGGGCCTCACCATATCTTTTTCCTTGGATTGGCATGGGAGGGTCAGGCAGGAATAATGGGTTTATATTGGCTGTTTCTATGACTCATGCCCCCCACTCCCACTAGACTGTGACATCCCTGAGGGCAGGGACTATGTCTAACTCATTGTTGTATCCCCAGCACCTAACATACTGCCCTGCGTGTAGTGAGAGTTTAATAAATGTTTGTTGAATAAAATTGCATAGTAAATATCTATACCAATTACCCTCCACTCTCATTGTAGATCTGATTGCTACTGATCTTCTTCCCAGTTTGACTGTAAGCTCTTTGAGGGGAGTGATCACACCTTGTATTTTTCTAGGACCTTCCTAAATCCACCCCATCTCCAGCACAGTGCTGGACACCTATTATACACAATGTTTTGGTTGTTTAAAGGAAAGGGTGATCATTCGTTGGGATGAGTATCAATAGCTAGCTAGTTATACATCATTCAGAACAGCTCTGTGCTCTGCTCATGAGCACCCAGGTCTGTGGGGAAGACAGGAGGCCTGGGACAAGGAGAGTCAGTCCCCTCGTGTTGAATTCAACCTCAGTAGAATTCTCCCAGTTCCCTAGGTCCCCAGTTGCCCCCTGTAGTTTTTCTTTTCTAGACATCCAGGGGTACAGAGCATTCACACCCCTTTCTTCTCTTTTAGAAGGAATGAATTGCATGAACAAGAACCACGGCTGTGCCCACATTTGCCGGGAGACACCCAAGGGGGGTATTGCCTGTGAATGCCGTCCTGGCTTTGAGCTTACCAAGAACCAACGGGACTGTAAATGTGAGATAATTGGGATGGCAGGTGGGGCAGTGGGGTCGGGGGTGAAAACATAGAGGAAGGGTATAGGGCTTCAGGAGCAAGAGGACAGGGCTGGGAGGAAAAGGGAGTATGGGGGAGGCAACTAGGCAAGGGGGCCAGTACCCACATTGTGGAAAACTGTGGATGCAGGGAGGAGCAAGCTGACAGGGCCCTGTCCTCTCTGTGCACAGTGACATGCAACTATGGTAACGGCGGCTGCCAGCACACGTGTGATGACACAGAGCAGGGTCCCCGGTGCGGCTGCCATATCAAGTTTGTGCTCCATACCGACGGGAAGACATGCATCGGTGGGTGAGGCCAGGGGAGAACTCAGTCCACCTGAGATGGGGTGGGGGTGGGACCCTTTGGGAACCAGGGAAGTGGAGGAGTGCATGGGGCCCAGGTGCTGGGCACAGAGGGACTGGTGAGGGAGTTAAGACCCAGAAAATGCCAGGTCTAGTAAGGGACAACTCAAAGAGAGACTGAAGGGCTCCCCAGCCCTCTTCCCCTCCCCATCCCAGTGGTTTTACCACCCTGTTCCAGGAGCCTCACCACCCTCTTCATCCCAGGACAAAGTGTTGCCAAACTGGGAATAATTAGCAGAGTTGCTTATTGACCAAGGCTGTAGTTGAGAAGTGGGAAGAGATCTGGGGAAATGCATCTGCTTAGGCCTGACCAGAGGCCCTTGGTTGACTAGTGTGATAACAGAGGAATTATCAAAGCCCAGTGTCCCCACTCTGCAACTGAGGGTGGGACAGAGTGCTCCTTCCTGGAACAACCATCCCTGAACTGACTGACAGATGGGGTTTCCTGGCTCCAGGTATCTTTTTCCTCTTTATTCCTTCTCTCCTCACTCTCCTCCTGCAACTCCCCTTTCTACTCACCTCACCTTACCCCCCATTTCCTTCTCTCTCCTCCAGATGCCAGTGGTACTCCCTCTCAGCTCCACCAGCAACCCTGTTTCTTCCTCACCAACTCCAGCCTTCCATCTCTTACCTTGATTTGAGGTCCTCTTAATACCTGGATCCCTCTTCCTGAATTCTTAGGCCTTATCTCACATATTTTCAGGTACCCTAGATGAGTTTAATTCCTTAAAGTTAATTCCTAATTCCTTTAGCCTTTAGGTCTTTAGTGCTGAGAAGGATGATGGAACAAGGTTTCCCCTTGGAGAAGGGGGAAATGAAAGGAAGAGGTTTGGCTGAGAGAGAGGCTGTGTCTTTAGCCAGGCAGGGCATGAGCTTGCTGTGTGGGCATAGGTGTTTATGAATGACTGTCCATCTGGTGGGCTGTGGCATGCTGAGGATGGGGGTGTGTGAATCCAGTCACTGTGTATGAAGTTATGTATATCAGAGACATGACATTAACTGAGGAACTAGACTTTCCAGGGACCTGTCCCTTTCACTGCAGGAATAGGAACTGGAGAGCAGATGATGCTCTTACAGGGCTCCCTCAGGCACTTGCTCCAGAGACTGGCACATCCATTTCTAAAGTCCCTATATAATTAAAATCTCCCCTGCCACGTTTCCCTCTGAATTAACTCTTCAAAGACCCCAGAACATTTTTAGGCTCTTCTCATTGCCTTCTTTGGGCTGGTGTGTTTCAGCTCCTTTCATTTTTTACTCATAGGTCTAATTATTTTGCTTTTCAAAGCTCTCACCACCTCCTGGACACATTCACACATCCCCAGTCTCTCAAAAGAAATTGTTTGCAGTGCCCAAAGAAAAGATGCATGAGTCAGGGGCCAGGGATGTGAAGGTCTGATCCCTCTCTGATTTATTTCTGTTCAAAGTTCCAGACATGGTTGCTTCTGAAAACACCCTTACTGAGCTTGGGCTCTTCTCTAACTCAAGACCTGTTCCACCACTGGGCTGTGGCCAAATGAGGCAGAAAAGGCCAAATGAGGCAGAAAAGACCAAATGAGGCTATTCTGGGGTTTACAGCTATATTCTTTCCTAGTTCCTCTTCCTCTTCTCCAATAGAACTTATTTTACCTTGCCATATATCTAATTTTTCTGGCCATCCCTGGTAAGAGGAAACATCATTGCCTGGGGCCGTCAGGACATTCAGATTCGGTGGGAAGACTGAGAAGGCAGTATAGTTTAGCAGAAAGGGCGGCACCCTTTGGGATTTGGGATTTTGTGGTTAGTAAGACTTGAGGGTGCATCCCAGCTTAGGCTTGAGCATGCTCTGTGGTACTGGGCACATGGTTGGTTGCCCTTTCTGAGACTGTTTCAGTTTTTCAGTCACTTGCGGG
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GGAGGGGAGGAAGGACAGGGCTGTGGCCTGTCCACAGAAATGGTCCCTGCTCCACAAGGAGGTGAGGCTCAGCTGCCTTTCCCCACCCTGCCCCTCCAACCTCAGCACCATGGCCATAGCTCTGCCTGCACCCAGAGCCACTTCCCAGGTTCCTACATTCCCTGGCTGCTCATTGCAACCAGCTGCAACCCCCAGTTACCTATCCGACCAATGTGACCAATCTCCATCCTTACCTTCATCACTGTTCCTCTTTCTCTGGCTTCTTTCCTGGTGTCCTCTGTCTTCATACCCAGTTTACACAGGTGAGGGAAAGGGAGGCATGGCTTCACCTAGGTGACATTTGAGGTTCAAAGGTCCCCTTTTCCCCCACTTGCTTAGCTTCCCAGCTCTGCCCTCAGGGCAGCCTTTTTACACTTAGTGAAATATTAGCTGACAAGGGTGTGAGGACTTCCTGGCTTAAGGCTGGGCTTAGGGGGTAGTAGTTCTTAAGACTGCCTTTGGTGCTGAAGTCTTGGGATATACCCTGGACCCTGCCTGTACCCCATGACCCCACTGACTACCTATCCTGCACAGATGTGGACGAGTGTGCCGAGGGCAACGGCGGCTGTCAGCAGAGCTGTGTCAACATGATGGGCAGCTATGAGTGCCACTGCCGGGAAGGCTTCTTCCTCAGCGACAACCAGCATACCTGTATCCAGCGGCCAGAAGGTCAGCCCATGACCTGGGATGGCCCCATCCCTGCCCTCCCCAGGCTTCTCTTCCCAGCTGTCCCTCAGCAGCCCCTAAGTCTCACCCTCCATTCTCAACTCAGCTAGCTCCTTCTTCTCTTGTCCTTCAACTCAATCACACCCTAAAGGATCTAGGAACAGACACCCTGTTAGGGCAAAATCTGGGGAAATTACTTTGAGGTTGGGATCAATATGGGATTAAGGCTACTATGGAGTATCCTCTGTGTCCAGACCTGAGGTGGATGTTGTCCCTAATTGTAGATGGCTGAGCTTCTCTAAGCTGCTGCCTATCTGAGAGGGCCTCACCATATCTTTTTCCTTGGATTGGCATGGGAGGGTCAGGCAGGAATAATGGGTTTATATTGGCTGTTTCTATGACTCATGCCCCCCACTCCCACTAGACTGTGACATCCCTGAGGGCAGGGACTATGTCTAACTCATTGTTGTATCCCCAGCACCTAACATACTGCCCTGCGTGTAGTGAGAGTTTAATAAATGTTTGTTGAATAAAATTGCATAGTAAATATCTATACCAATTACCCTCCACTCTCATTGTAGATCTGATTGCTACTGATCTTCTTCCCAGTTTGACTGTAAGCTCTTTGAGGGGAGTGATCACACCTTGTATTTTTCTAGGACCTTCCTAAATCCACCCCATCTCCAGCACAGTGCTGGACACCTATTATACACAATGTTTTGGTTGTTTAAAGGAAAGGGTGATCATTCGTTGGGATGAGTATCAATAGCTAGCTAGTTATACATCATTCAGAACAGCTCTGTGCTCTGCTCATGAGCACCCAGGTCTGTGGGGAAGACAGGAGGCCTGGGACAAGGAGAGTCAGTCCCCTCGTGTTGAATTCAACCTCAGTAGAATTCTCCCAGTTCCCTAGGTCCCCAGTTGCCCCCTGTAGTTTTTCTTTTCTAGACATCCAGGGGTACAGAGCATTCACACCCCTTTCTTCTCTTTTAGAAGGAATGAATTGCATGAACAAGAACCACGGCTGTGCCCACATTTGCCGGGAGACACCCAAGGGGGGTATTGCCTGTGAATGCCGTCCTGGCTTTGAGCTTACCAAGAACCAACGGGACTGTAAATGTGAGATAATTGGGATGGCAGGTGGGGCAGTGGGGTCGGGGGTGAAAACATAGAGGAAGGGTATAGGGCTTCAGGAGCAAGAGGACAGGGCTGGGAGGAAAAGGGAGTATGGGGGAGGCAACTAGGCAAGGGGGCCAGTACCCACATTGTGGAAAACTGTGGATGCAGGGAGGAGCAAGCTGACAGGGCCCTGTCCTCTCTGTGCACAGTGACATGCAACTATGATAACGGCGGCTGCCAGCACACGTGTGATGACACAGAGCAGGGTCCCCGGTGCGGCTGCCATATCAAGTTTGTGCTCCATACCGACGGGAAGACATGCATCGGTGGGTGAGGCCAGGGGAGAACTCAGTCCACCTGAGATGGGGTGGGGGTGGGACCCTTTGGGAACCAGGGAAGTGGAGGAGTGCATGGGGCCCAGGTGCTGGGCACAGAGGGACTGGTGAGGGAGTTAAGACCCAGAAAATGCCAGGTCTAGTAAGGGACAACTCAAAGAGAGACTGAAGGGCTCCCCAGCCCTCTTCCCCTCCCCATCCCAGTGGTTTTACCACCCTGTTCCAGGAGCCTCACCACCCTCTTCATCCCAGGACAAAGTGTTGCCAAACTGGGAATAATTAGCAGAGTTGCTTATTGACCAAGGCTGTAGTTGAGAAGTGGGAAGAGATCTGGGGAAATGCATCTGCTTAGGCCTGACCAGAGGCCCTTGGTTGACTAGTGTGATAACAGAGGAATTATCAAAGCCCAGTGTCCCCACTCTGCAACTGAGGGTGGGACAGAGTGCTCCTTCCTGGAACAACCATCCCTGAACTGACTGACAGATGGGGTTTCCTGGCTCCAGGTATCTTTTTCCTCTTTATTCCTTCTCTCCTCACTCTCCTCCTGCAACTCCCCTTTCTACTCACCTCACCTTACCCCCCATTTCCTTCTCTCTCCTCCAGATGCCAGTGGTACTCCCTCTCAGCTCCACCAGCAACCCTGTTTCTTCCTCACCAACTCCAGCCTTCCATCTCTTACCTTGATTTGAGGTCCTCTTAATACCTGGATCCCTCTTCCTGAATTCTTAGGCCTTATCTCACATATTTTCAGGTACCCTAGATGAGTTTAATTCCTTAAAGTTAATTCCTAATTCCTTTAGCCTTTAGGTCTTTAGTGCTGAGAAGGATGATGGAACAAGGTTTCCCCTTGGAGAAGGGGGAAATGAAAGGAAGAGGTTTGGCTGAGAGAGAGGCTGTGTCTTTAGCCAGGCAGGGCATGAGCTTGCTGTGTGGGCATAGGTGTTTATGAATGACTGTCCATCTGGTGGGCTGTGGCATGCTGAGGATGGGGGTGTGTGAATCCAGTCACTGTGTATGAAGTTATGTATATCAGAGACATGACATTAACTGAGGAACTAGACTTTCCAGGGACCTGTCCCTTTCACTGCAGGAATAGGAACTGGAGAGCAGATGATGCTCTTACAGGGCTCCCTCAGGCACTTGCTCCAGAGACTGGCACATCCATTTCTAAAGTCCCTATATAATTAAAATCTCCCCTGCCACGTTTCCCTCTGAATTAACTCTTCAAAGACCCCAGAACATTTTTAGGCTCTTCTCATTGCCTTCTTTGGGCTGGTGTGTTTCAGCTCCTTTCATTTTTTACTCATAGGTCTAATTATTTTGCTTTTCAAAGCTCTCACCACCTCCTGGACACATTCACACATCCCCAGTCTCTCAAAAGAAATTGTTTGCAGTGCCCAAAGAAAAGATGCATGAGTCAGGGGCCAGGGATGTGAAGGTCTGATCCCTCTCTGATTTATTTCTGTTCAAAGTTCCAGACATGGTTGCTTCTGAAAACACCCTTACTGAGCTTGGGCTCTTCTCTAACTCAAGACCTGTTCCACCACTGGGCTGTGGCCAAATGAGGCAGAAAAGGCCAAATGAGGCAGAAAAGACCAAATGAGGCTATTCTGGGGTTTACAGCTATATTCTTTCCTAGTTCCTCTTCCTCTTCTCCAATAGAACTTATTTTACCTTGCCATATATCTAATTTTTCTGGCCATCCCTGGTAAGAGGAAACATCATTGCCTGGGGCCGTCAGGACATTCAGATTCGGTGGGAAGACTGAGAAGGCAGTATAGTTTAGCAGAAAGGGCGGCACCCTTTGGGATTTGGGATTTTGTGGTTAGTAAGACTTGAGGGTGCATCCCAGCTTAGGCTTGAGCATGCTCTGTGGTACTGGGCACATGGTTGGTTGCCCTTTCTGAGACTGTTTCAGTTTTTCAGTCACTTGCGGG
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Task1_train_10212
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This variant affects gene SCUBE3 (signal peptide, CUB domain and EGF like domain containing 3) located on Chromosome 6. Evaluate its biological effect and specify any disease association.
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Pathogenic; Abnormality of the skeletal system
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GGAGGGGAGGAAGGACAGGGCTGTGGCCTGTCCACAGAAATGGTCCCTGCTCCACAAGGAGGTGAGGCTCAGCTGCCTTTCCCCACCCTGCCCCTCCAACCTCAGCACCATGGCCATAGCTCTGCCTGCACCCAGAGCCACTTCCCAGGTTCCTACATTCCCTGGCTGCTCATTGCAACCAGCTGCAACCCCCAGTTACCTATCCGACCAATGTGACCAATCTCCATCCTTACCTTCATCACTGTTCCTCTTTCTCTGGCTTCTTTCCTGGTGTCCTCTGTCTTCATACCCAGTTTACACAGGTGAGGGAAAGGGAGGCATGGCTTCACCTAGGTGACATTTGAGGTTCAAAGGTCCCCTTTTCCCCCACTTGCTTAGCTTCCCAGCTCTGCCCTCAGGGCAGCCTTTTTACACTTAGTGAAATATTAGCTGACAAGGGTGTGAGGACTTCCTGGCTTAAGGCTGGGCTTAGGGGGTAGTAGTTCTTAAGACTGCCTTTGGTGCTGAAGTCTTGGGATATACCCTGGACCCTGCCTGTACCCCATGACCCCACTGACTACCTATCCTGCACAGATGTGGACGAGTGTGCCGAGGGCAACGGCGGCTGTCAGCAGAGCTGTGTCAACATGATGGGCAGCTATGAGTGCCACTGCCGGGAAGGCTTCTTCCTCAGCGACAACCAGCATACCTGTATCCAGCGGCCAGAAGGTCAGCCCATGACCTGGGATGGCCCCATCCCTGCCCTCCCCAGGCTTCTCTTCCCAGCTGTCCCTCAGCAGCCCCTAAGTCTCACCCTCCATTCTCAACTCAGCTAGCTCCTTCTTCTCTTGTCCTTCAACTCAATCACACCCTAAAGGATCTAGGAACAGACACCCTGTTAGGGCAAAATCTGGGGAAATTACTTTGAGGTTGGGATCAATATGGGATTAAGGCTACTATGGAGTATCCTCTGTGTCCAGACCTGAGGTGGATGTTGTCCCTAATTGTAGATGGCTGAGCTTCTCTAAGCTGCTGCCTATCTGAGAGGGCCTCACCATATCTTTTTCCTTGGATTGGCATGGGAGGGTCAGGCAGGAATAATGGGTTTATATTGGCTGTTTCTATGACTCATGCCCCCCACTCCCACTAGACTGTGACATCCCTGAGGGCAGGGACTATGTCTAACTCATTGTTGTATCCCCAGCACCTAACATACTGCCCTGCGTGTAGTGAGAGTTTAATAAATGTTTGTTGAATAAAATTGCATAGTAAATATCTATACCAATTACCCTCCACTCTCATTGTAGATCTGATTGCTACTGATCTTCTTCCCAGTTTGACTGTAAGCTCTTTGAGGGGAGTGATCACACCTTGTATTTTTCTAGGACCTTCCTAAATCCACCCCATCTCCAGCACAGTGCTGGACACCTATTATACACAATGTTTTGGTTGTTTAAAGGAAAGGGTGATCATTCGTTGGGATGAGTATCAATAGCTAGCTAGTTATACATCATTCAGAACAGCTCTGTGCTCTGCTCATGAGCACCCAGGTCTGTGGGGAAGACAGGAGGCCTGGGACAAGGAGAGTCAGTCCCCTCGTGTTGAATTCAACCTCAGTAGAATTCTCCCAGTTCCCTAGGTCCCCAGTTGCCCCCTGTAGTTTTTCTTTTCTAGACATCCAGGGGTACAGAGCATTCACACCCCTTTCTTCTCTTTTAGAAGGAATGAATTGCATGAACAAGAACCACGGCTGTGCCCACATTTGCCGGGAGACACCCAAGGGGGGTATTGCCTGTGAATGCCGTCCTGGCTTTGAGCTTACCAAGAACCAACGGGACTGTAAATGTGAGATAATTGGGATGGCAGGTGGGGCAGTGGGGTCGGGGGTGAAAACATAGAGGAAGGGTATAGGGCTTCAGGAGCAAGAGGACAGGGCTGGGAGGAAAAGGGAGTATGGGGGAGGCAACTAGGCAAGGGGGCCAGTACCCACATTGTGGAAAACTGTGGATGCAGGGAGGAGCAAGCTGACAGGGCCCTGTCCTCTCTGTGCACAGTGACATGCAACTATGGTAACGGCGGCTGCCAGCACACGTGTGATGACACAGAGCAGGGTCCCCGGTGCGGCTGCCATATCAAGTTTGTGCTCCATACCGACGGGAAGACATGCATCGGTGGGTGAGGCCAGGGGAGAACTCAGTCCACCTGAGATGGGGTGGGGGTGGGACCCTTTGGGAACCAGGGAAGTGGAGGAGTGCATGGGGCCCAGGTGCTGGGCACAGAGGGACTGGTGAGGGAGTTAAGACCCAGAAAATGCCAGGTCTAGTAAGGGACAACTCAAAGAGAGACTGAAGGGCTCCCCAGCCCTCTTCCCCTCCCCATCCCAGTGGTTTTACCACCCTGTTCCAGGAGCCTCACCACCCTCTTCATCCCAGGACAAAGTGTTGCCAAACTGGGAATAATTAGCAGAGTTGCTTATTGACCAAGGCTGTAGTTGAGAAGTGGGAAGAGATCTGGGGAAATGCATCTGCTTAGGCCTGACCAGAGGCCCTTGGTTGACTAGTGTGATAACAGAGGAATTATCAAAGCCCAGTGTCCCCACTCTGCAACTGAGGGTGGGACAGAGTGCTCCTTCCTGGAACAACCATCCCTGAACTGACTGACAGATGGGGTTTCCTGGCTCCAGGTATCTTTTTCCTCTTTATTCCTTCTCTCCTCACTCTCCTCCTGCAACTCCCCTTTCTACTCACCTCACCTTACCCCCCATTTCCTTCTCTCTCCTCCAGATGCCAGTGGTACTCCCTCTCAGCTCCACCAGCAACCCTGTTTCTTCCTCACCAACTCCAGCCTTCCATCTCTTACCTTGATTTGAGGTCCTCTTAATACCTGGATCCCTCTTCCTGAATTCTTAGGCCTTATCTCACATATTTTCAGGTACCCTAGATGAGTTTAATTCCTTAAAGTTAATTCCTAATTCCTTTAGCCTTTAGGTCTTTAGTGCTGAGAAGGATGATGGAACAAGGTTTCCCCTTGGAGAAGGGGGAAATGAAAGGAAGAGGTTTGGCTGAGAGAGAGGCTGTGTCTTTAGCCAGGCAGGGCATGAGCTTGCTGTGTGGGCATAGGTGTTTATGAATGACTGTCCATCTGGTGGGCTGTGGCATGCTGAGGATGGGGGTGTGTGAATCCAGTCACTGTGTATGAAGTTATGTATATCAGAGACATGACATTAACTGAGGAACTAGACTTTCCAGGGACCTGTCCCTTTCACTGCAGGAATAGGAACTGGAGAGCAGATGATGCTCTTACAGGGCTCCCTCAGGCACTTGCTCCAGAGACTGGCACATCCATTTCTAAAGTCCCTATATAATTAAAATCTCCCCTGCCACGTTTCCCTCTGAATTAACTCTTCAAAGACCCCAGAACATTTTTAGGCTCTTCTCATTGCCTTCTTTGGGCTGGTGTGTTTCAGCTCCTTTCATTTTTTACTCATAGGTCTAATTATTTTGCTTTTCAAAGCTCTCACCACCTCCTGGACACATTCACACATCCCCAGTCTCTCAAAAGAAATTGTTTGCAGTGCCCAAAGAAAAGATGCATGAGTCAGGGGCCAGGGATGTGAAGGTCTGATCCCTCTCTGATTTATTTCTGTTCAAAGTTCCAGACATGGTTGCTTCTGAAAACACCCTTACTGAGCTTGGGCTCTTCTCTAACTCAAGACCTGTTCCACCACTGGGCTGTGGCCAAATGAGGCAGAAAAGGCCAAATGAGGCAGAAAAGACCAAATGAGGCTATTCTGGGGTTTACAGCTATATTCTTTCCTAGTTCCTCTTCCTCTTCTCCAATAGAACTTATTTTACCTTGCCATATATCTAATTTTTCTGGCCATCCCTGGTAAGAGGAAACATCATTGCCTGGGGCCGTCAGGACATTCAGATTCGGTGGGAAGACTGAGAAGGCAGTATAGTTTAGCAGAAAGGGCGGCACCCTTTGGGATTTGGGATTTTGTGGTTAGTAAGACTTGAGGGTGCATCCCAGCTTAGGCTTGAGCATGCTCTGTGGTACTGGGCACATGGTTGGTTGCCCTTTCTGAGACTGTTTCAGTTTTTCAGTCACTTGCGGG
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GGAGGGGAGGAAGGACAGGGCTGTGGCCTGTCCACAGAAATGGTCCCTGCTCCACAAGGAGGTGAGGCTCAGCTGCCTTTCCCCACCCTGCCCCTCCAACCTCAGCACCATGGCCATAGCTCTGCCTGCACCCAGAGCCACTTCCCAGGTTCCTACATTCCCTGGCTGCTCATTGCAACCAGCTGCAACCCCCAGTTACCTATCCGACCAATGTGACCAATCTCCATCCTTACCTTCATCACTGTTCCTCTTTCTCTGGCTTCTTTCCTGGTGTCCTCTGTCTTCATACCCAGTTTACACAGGTGAGGGAAAGGGAGGCATGGCTTCACCTAGGTGACATTTGAGGTTCAAAGGTCCCCTTTTCCCCCACTTGCTTAGCTTCCCAGCTCTGCCCTCAGGGCAGCCTTTTTACACTTAGTGAAATATTAGCTGACAAGGGTGTGAGGACTTCCTGGCTTAAGGCTGGGCTTAGGGGGTAGTAGTTCTTAAGACTGCCTTTGGTGCTGAAGTCTTGGGATATACCCTGGACCCTGCCTGTACCCCATGACCCCACTGACTACCTATCCTGCACAGATGTGGACGAGTGTGCCGAGGGCAACGGCGGCTGTCAGCAGAGCTGTGTCAACATGATGGGCAGCTATGAGTGCCACTGCCGGGAAGGCTTCTTCCTCAGCGACAACCAGCATACCTGTATCCAGCGGCCAGAAGGTCAGCCCATGACCTGGGATGGCCCCATCCCTGCCCTCCCCAGGCTTCTCTTCCCAGCTGTCCCTCAGCAGCCCCTAAGTCTCACCCTCCATTCTCAACTCAGCTAGCTCCTTCTTCTCTTGTCCTTCAACTCAATCACACCCTAAAGGATCTAGGAACAGACACCCTGTTAGGGCAAAATCTGGGGAAATTACTTTGAGGTTGGGATCAATATGGGATTAAGGCTACTATGGAGTATCCTCTGTGTCCAGACCTGAGGTGGATGTTGTCCCTAATTGTAGATGGCTGAGCTTCTCTAAGCTGCTGCCTATCTGAGAGGGCCTCACCATATCTTTTTCCTTGGATTGGCATGGGAGGGTCAGGCAGGAATAATGGGTTTATATTGGCTGTTTCTATGACTCATGCCCCCCACTCCCACTAGACTGTGACATCCCTGAGGGCAGGGACTATGTCTAACTCATTGTTGTATCCCCAGCACCTAACATACTGCCCTGCGTGTAGTGAGAGTTTAATAAATGTTTGTTGAATAAAATTGCATAGTAAATATCTATACCAATTACCCTCCACTCTCATTGTAGATCTGATTGCTACTGATCTTCTTCCCAGTTTGACTGTAAGCTCTTTGAGGGGAGTGATCACACCTTGTATTTTTCTAGGACCTTCCTAAATCCACCCCATCTCCAGCACAGTGCTGGACACCTATTATACACAATGTTTTGGTTGTTTAAAGGAAAGGGTGATCATTCGTTGGGATGAGTATCAATAGCTAGCTAGTTATACATCATTCAGAACAGCTCTGTGCTCTGCTCATGAGCACCCAGGTCTGTGGGGAAGACAGGAGGCCTGGGACAAGGAGAGTCAGTCCCCTCGTGTTGAATTCAACCTCAGTAGAATTCTCCCAGTTCCCTAGGTCCCCAGTTGCCCCCTGTAGTTTTTCTTTTCTAGACATCCAGGGGTACAGAGCATTCACACCCCTTTCTTCTCTTTTAGAAGGAATGAATTGCATGAACAAGAACCACGGCTGTGCCCACATTTGCCGGGAGACACCCAAGGGGGGTATTGCCTGTGAATGCCGTCCTGGCTTTGAGCTTACCAAGAACCAACGGGACTGTAAATGTGAGATAATTGGGATGGCAGGTGGGGCAGTGGGGTCGGGGGTGAAAACATAGAGGAAGGGTATAGGGCTTCAGGAGCAAGAGGACAGGGCTGGGAGGAAAAGGGAGTATGGGGGAGGCAACTAGGCAAGGGGGCCAGTACCCACATTGTGGAAAACTGTGGATGCAGGGAGGAGCAAGCTGACAGGGCCCTGTCCTCTCTGTGCACAGTGACATGCAACTATGATAACGGCGGCTGCCAGCACACGTGTGATGACACAGAGCAGGGTCCCCGGTGCGGCTGCCATATCAAGTTTGTGCTCCATACCGACGGGAAGACATGCATCGGTGGGTGAGGCCAGGGGAGAACTCAGTCCACCTGAGATGGGGTGGGGGTGGGACCCTTTGGGAACCAGGGAAGTGGAGGAGTGCATGGGGCCCAGGTGCTGGGCACAGAGGGACTGGTGAGGGAGTTAAGACCCAGAAAATGCCAGGTCTAGTAAGGGACAACTCAAAGAGAGACTGAAGGGCTCCCCAGCCCTCTTCCCCTCCCCATCCCAGTGGTTTTACCACCCTGTTCCAGGAGCCTCACCACCCTCTTCATCCCAGGACAAAGTGTTGCCAAACTGGGAATAATTAGCAGAGTTGCTTATTGACCAAGGCTGTAGTTGAGAAGTGGGAAGAGATCTGGGGAAATGCATCTGCTTAGGCCTGACCAGAGGCCCTTGGTTGACTAGTGTGATAACAGAGGAATTATCAAAGCCCAGTGTCCCCACTCTGCAACTGAGGGTGGGACAGAGTGCTCCTTCCTGGAACAACCATCCCTGAACTGACTGACAGATGGGGTTTCCTGGCTCCAGGTATCTTTTTCCTCTTTATTCCTTCTCTCCTCACTCTCCTCCTGCAACTCCCCTTTCTACTCACCTCACCTTACCCCCCATTTCCTTCTCTCTCCTCCAGATGCCAGTGGTACTCCCTCTCAGCTCCACCAGCAACCCTGTTTCTTCCTCACCAACTCCAGCCTTCCATCTCTTACCTTGATTTGAGGTCCTCTTAATACCTGGATCCCTCTTCCTGAATTCTTAGGCCTTATCTCACATATTTTCAGGTACCCTAGATGAGTTTAATTCCTTAAAGTTAATTCCTAATTCCTTTAGCCTTTAGGTCTTTAGTGCTGAGAAGGATGATGGAACAAGGTTTCCCCTTGGAGAAGGGGGAAATGAAAGGAAGAGGTTTGGCTGAGAGAGAGGCTGTGTCTTTAGCCAGGCAGGGCATGAGCTTGCTGTGTGGGCATAGGTGTTTATGAATGACTGTCCATCTGGTGGGCTGTGGCATGCTGAGGATGGGGGTGTGTGAATCCAGTCACTGTGTATGAAGTTATGTATATCAGAGACATGACATTAACTGAGGAACTAGACTTTCCAGGGACCTGTCCCTTTCACTGCAGGAATAGGAACTGGAGAGCAGATGATGCTCTTACAGGGCTCCCTCAGGCACTTGCTCCAGAGACTGGCACATCCATTTCTAAAGTCCCTATATAATTAAAATCTCCCCTGCCACGTTTCCCTCTGAATTAACTCTTCAAAGACCCCAGAACATTTTTAGGCTCTTCTCATTGCCTTCTTTGGGCTGGTGTGTTTCAGCTCCTTTCATTTTTTACTCATAGGTCTAATTATTTTGCTTTTCAAAGCTCTCACCACCTCCTGGACACATTCACACATCCCCAGTCTCTCAAAAGAAATTGTTTGCAGTGCCCAAAGAAAAGATGCATGAGTCAGGGGCCAGGGATGTGAAGGTCTGATCCCTCTCTGATTTATTTCTGTTCAAAGTTCCAGACATGGTTGCTTCTGAAAACACCCTTACTGAGCTTGGGCTCTTCTCTAACTCAAGACCTGTTCCACCACTGGGCTGTGGCCAAATGAGGCAGAAAAGGCCAAATGAGGCAGAAAAGACCAAATGAGGCTATTCTGGGGTTTACAGCTATATTCTTTCCTAGTTCCTCTTCCTCTTCTCCAATAGAACTTATTTTACCTTGCCATATATCTAATTTTTCTGGCCATCCCTGGTAAGAGGAAACATCATTGCCTGGGGCCGTCAGGACATTCAGATTCGGTGGGAAGACTGAGAAGGCAGTATAGTTTAGCAGAAAGGGCGGCACCCTTTGGGATTTGGGATTTTGTGGTTAGTAAGACTTGAGGGTGCATCCCAGCTTAGGCTTGAGCATGCTCTGTGGTACTGGGCACATGGTTGGTTGCCCTTTCTGAGACTGTTTCAGTTTTTCAGTCACTTGCGGG
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Task1_train_10213
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The following genetic variant occurs in DEF6 (DEF6 guanine nucleotide exchange factor) on Chromosome 6. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Immunodeficiency 87 and autoimmunity
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GGTGGAGGAGGGGGCTTTTGTTAAAGAGCACTTTGATGAGCTGTGCTGGACGCTGACGGCCAAGAAGAACTATCGGGCAGATAGCAACGGGAACAGTATGCTCTCCAATCAGGATGCCTTCCGCCTCTGGTGCCTCTTCAACTTCCTGTCTGAGGACAAGTACCCTCTGATCATGGTTCCTGATGAGGTGAGGGTGATGGCAGCCCCAGGGACTGAATCACTTGGGACCAGACCTAAGCAAAACCATGAATGAGACCAAACCACCTTTGGTGCCTTCCCATATCCCCTTTCTTTCTTTACCATCTTCCCATGCTGGTATCTGTCCTCACCCAGCTGTCTCCAGATGCCTAGAACTGCCTGTGTCAGAGTAATTTTGCCTTCTTCCAGGAAAACTGAAATTACACTTTCATGAGGGTTCTGCTGGTCCTCACTGTAGGAAAATGATCTGCAAATTCTGTTTACACAGAGGTCTAAATGCCAGATACATTACTGAGCATTACTGGCAATCTAGGAAGGGTGCTTTTTTTTCCTTTACCTTTTGCCACTTCTTCCAGGACAGGAAGGATGCTTTACAAGGCAAGGGGAGACCTTTCTGAGACAGGAGGTTACTCTGGTTCCAGATTTTCCCTTTCTGCCTTTCTTCTGGAAAGCCAGGACAAACTCAGCTAAGAGACCCAGGGATAGGGCATCCTGGGAGAAAAGGCTGGGAATCTGGTCCCTATCTCCTTACTCCTGGGTGAAGCCAGGGAAGGCATTTTCCCATCCACCTGTACCCTCCCTCTTATCCTCACTTCCCTCCCCTGCCCATTTGGCCTTGTGACCCTTTAGTCCTCTTGGTGGCTGTGGAGATGCCAGGGTGACTTTAGGTCTTTAGAGTGGGGTTTACAGGAGAGGGGGCTTCTGTACTTACAAGAAGCCCTAGCATGTCAAGCTCCACTCACATTTGTCCTGGCTTCTGTTTGTGGGAAGGGTGATGAAGGGAACCACCCGAGCCCTGAACCAGTGCCCTCTACTAAACACCCAAACAAGACCCAGGATCCCCCAGAAAGTCCTAAACAGAGTGTCCCAAAAAGCTGCTGGGGCAGGTGAGGGACATGTGTCCATCTGCACATACACTTGGCTGGCTGCCCTTGTTAGACCCCTGCCAGTCAGGGCAAGGTGGCCTCGGAGGCCAGGAGGTTGTTTGCTTCTGCGATCAACATACAGAGTTAACAACTGCAGCAGGATGTACCCCAGCCACCACTTCCGGTTCCTCTGTAACAGGTTTCCTGTCCCTGCCCAGCTTACCTCTACTCCCCACTCCCCAACGCCTACCCCTACCCCAAATCCCCTTCCTCTCCCACAAGGGAAAGATCCCCAGGGTTGGGGATTGGGGCTTGGAATAAGGACCTGAATGGGATTCAGGAGATCAGAATCGGGTTCTGGCTGCCCCCAGTTTGCTGTGTGACTTAGAGCCAGTCACTTCCCCCTTTGGGCTTTTTTTTGGTCATCTGCAAAATGAGTGATTGGATGAGAGGGCCTTTGCACTCCCTTGACACTTTCTGTGATTTATTGCCTCTTTCTGGACCCCAGATCTCAGGTCCCCTTCACCTTGCCCTTAAGACAGGAAGGAGTGGGACTGGAGGTTGTGGACGGGGAGAGAAAACCTGAGTTGGGGTTGGGGCTCCAGGATCCTCTCCCAGGTCTTTTCCCTGGCTCCATAACATTCGGTCCTCTGGCCCCCTCAACGCTCTGTCCCCTGTTTCCCTCTGCCCAGGCTCTGGGAGCCAGATAGAGCACTCCCTGGTGTTGGTGCTGGCAACACCACCTGCTGCAGCTACCAGGCCTTCCTTCTCCTGCTCCAGGTGGAATACCTGCTGAAAAAGGTACTCAGCAGCATGAGCTTGGAGGTGAGCTTGGGTGAGCTGGAGGAGCTTCTGGCCCAGGAGGCCCAGGTGGCCCAGACCACCGGGGGGCTCAGCGTCTGGCAGTTCCTGGAGCTCTTCAATTCGGGCCGCTGCCTGCGGGGCGTGGGCCGGGACACCCTCAGCATGGCCATCCACGAGGTCTACCAGGAGCTCATCCAAGATGTCCTGAAGCAGGTCAGGCAAGCTGGGAACTAGGGGAAGCACACAAGGTGCAGGGCGAAGGGGGGCCTGGGAAGCCTCTGACGTAACTCCGGCTGGCAGGGCTACCTGTGGAAGCGAGGGCACCTGAGAAGGAACTGGGCCGAACGCTGGTTCCAGCTGCAGCCCAGCTGCCTCTGCTACTTTGGGAGTGAAGAGTGCAAAGAGAAAAGGGGCATTATCCCGCTGGATGCACACTGCTGCGTGGAGGTGAGGGGCAGGATGGGGGTGGAGGACATCTCAGGGCCCAGAGTGTCCTCAGGGGCATGAGAAGACAAGGGGGTCAGGAGAGGGGCAAATGGAGAAAAGCCACAGTGACACAAATTCCTGCTTAGATTAGTGTGACCCAAATATATCCGGATGCCTCAAGGCCATTCTCATCCACGTCAGCACTTAAAACTAAAACTGCAACTCAAGCACCAAAGTAATTGGTGAATAATATGGAATTTGCTCAAGATTTCAGAGGAAGTGGCTTATATCTATACTACACAGCAAATCTTTCTAAAAATCCCTTTTAAAGGTTTTTCTTCTTCACCCATATTCCATTCCCTTTAGCAACTCTGTACTTCCCTATTCTCCTTCCATACCCCTCTCCTCTGTCTTCCCCTTCTGTTTCCTCCCTTGTGTTCATCACTATTTTAGAGGCTTAAAACACAAGCGTCTTTACTATTTTAAATAATATGTATATATGTGTGTGTAACATGAAACTTCCCATTTTAACTATTTTAAGCGTACAATTCAGTGGCATTAAATACATTCATGAAATTAAAAAATTCTTTTGATATATAACAGATGTACATATTTTCAGGGTACATGTGATAATTTAATACATTCATATATTTTATAAAAATCAAATCATGTCATTAGGTATCCTTTACCTCAAATATTTCTTTATGCTAGAAACATTCAAATTATTCTCTTCTATTTTGAAATATACAATAGATTATTGTAAACTGTAGCCACCCTACTGATCTATTGAATCCTAGGTCTTATTTTTCCTGTCAAACTGTATGTTTATACCCATTCATCAACCTCTCTTTGTCCTCCCCCCACACTTCCTGGCCTCTGGTACCACTAATATACTCTCTATCTTCATGTGATCCACTTTTTTAGCTCCCACATGTAAGTGAGAACATGCGATAGTTGTTTTTCTGTGTTTGGCTTATTCACTTAACAAAATGACCTATGGTGCCATCTATGTTGTTGCAAATGACAAGATTTCATTCTTTTTATGGCTGAATAATATTATATATATCACATTTTCTTAATCTATTTATCCACTTCTGGGCACTTAGGTTGATTTCATATTTTGGCCATTATGAATATCTCTGCAGTAAACATGGGAAGGCAGATATCTCTTCAATATATTGGTTTACTTTCTTTTAGATATATACCCAGCAGTGGAACTTCTAGATCATATGATAGTTCTATTTTTAGTTTTTTGAGGAACCTTCATACAGTTTTCCATAGTAGCTGTACTAATTTATATTCCCACTAACAGTTTATCAGGGTTCCCCTTTCTCCACGTCTTCTCCAGCATCTTTTTACAGAAAAGATATTCTTGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGTGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACCCCATCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAGATGGAGGTTGCAGTGAGTCAAGATTGCACCATTGCACTTCAGCCTGGGTGACAGGAGTGAAACTCTATCTCAAAAAAAAAAAAAAAAAAAAGATGTTCTCTATTTTTTTTGTAAAAAGCCATTTTAACTGGGATGAAATGATATCTCATTTAATTTTGATTTGCTTTTCTCTGATGATTAGTGACATTGAGCATTTTTTCATATCTCTGTTGACCAT
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GGTGGAGGAGGGGGCTTTTGTTAAAGAGCACTTTGATGAGCTGTGCTGGACGCTGACGGCCAAGAAGAACTATCGGGCAGATAGCAACGGGAACAGTATGCTCTCCAATCAGGATGCCTTCCGCCTCTGGTGCCTCTTCAACTTCCTGTCTGAGGACAAGTACCCTCTGATCATGGTTCCTGATGAGGTGAGGGTGATGGCAGCCCCAGGGACTGAATCACTTGGGACCAGACCTAAGCAAAACCATGAATGAGACCAAACCACCTTTGGTGCCTTCCCATATCCCCTTTCTTTCTTTACCATCTTCCCATGCTGGTATCTGTCCTCACCCAGCTGTCTCCAGATGCCTAGAACTGCCTGTGTCAGAGTAATTTTGCCTTCTTCCAGGAAAACTGAAATTACACTTTCATGAGGGTTCTGCTGGTCCTCACTGTAGGAAAATGATCTGCAAATTCTGTTTACACAGAGGTCTAAATGCCAGATACATTACTGAGCATTACTGGCAATCTAGGAAGGGTGCTTTTTTTTCCTTTACCTTTTGCCACTTCTTCCAGGACAGGAAGGATGCTTTACAAGGCAAGGGGAGACCTTTCTGAGACAGGAGGTTACTCTGGTTCCAGATTTTCCCTTTCTGCCTTTCTTCTGGAAAGCCAGGACAAACTCAGCTAAGAGACCCAGGGATAGGGCATCCTGGGAGAAAAGGCTGGGAATCTGGTCCCTATCTCCTTACTCCTGGGTGAAGCCAGGGAAGGCATTTTCCCATCCACCTGTACCCTCCCTCTTATCCTCACTTCCCTCCCCTGCCCATTTGGCCTTGTGACCCTTTAGTCCTCTTGGTGGCTGTGGAGATGCCAGGGTGACTTTAGGTCTTTAGAGTGGGGTTTACAGGAGAGGGGGCTTCTGTACTTACAAGAAGCCCTAGCATGTCAAGCTCCACTCACATTTGTCCTGGCTTCTGTTTGTGGGAAGGGTGATGAAGGGAACCACCCGAGCCCTGAACCAGTGCCCTCTACTAAACACCCAAACAAGACCCAGGATCCCCCAGAAAGTCCTAAACAGAGTGTCCCAAAAAGCTGCTGGGGCAGGTGAGGGACATGTGTCCATCTGCACATACACTTGGCTGGCTGCCCTTGTTAGACCCCTGCCAGTCAGGGCAAGGTGGCCTCGGAGGCCAGGAGGTTGTTTGCTTCTGCGATCAACATACAGAGTTAACAACTGCAGCAGGATGTACCCCAGCCACCACTTCCGGTTCCTCTGTAACAGGTTTCCTGTCCCTGCCCAGCTTACCTCTACTCCCCACTCCCCAACGCCTACCCCTACCCCAAATCCCCTTCCTCTCCCACAAGGGAAAGATCCCCAGGGTTGGGGATTGGGGCTTGGAATAAGGACCTGAATGGGATTCAGGAGATCAGAATCGGGTTCTGGCTGCCCCCAGTTTGCTGTGTGACTTAGAGCCAGTCACTTCCCCCTTTGGGCTTTTTTTTGGTCATCTGCAAAATGAGTGATTGGATGAGAGGGCCTTTGCACTCCCTTGACACTTTCTGTGATTTATTGCCTCTTTCTGGACCCCAGATCTCAGGTCCCCTTCACCTTGCCCTTAAGACAGGAAGGAGTGGGACTGGAGGTTGTGGACGGGGAGAGAAAACCTGAGTTGGGGTTGGGGCTCCAGGATCCTCTCCCAGGTCTTTTCCCTGGCTCCATAACATTCGGTCCTCTGGCCCCCTCAACGCTCTGTCCCCTGTTTCCCTCTGCCCAGGCTCTGGGAGCCAGATAGAGCACTCCCTGGTGTTGGTGCTGGCAACACCACCTGCTGCAGCTACCAGGCCTTCCTTCTCCTGCTCCAGGTGGAATACCTGCTGAAAAAGGTACTCAGCAGCATGAGCTTGGAGGTGAGCTTGGGTGAGCTGGAGGAGCTTCTGGCCCAGGAGGCCCAGGTGGCCCAGACCACCGGGGGGCTCAGCGTCTGGCAGTTCCTGGAGCTCTTCAATTCGGGCCGCTGCCTGCGGGGCGTGGGCCGGGACACCCTCAGCATGGCCATCCACGAGGTCGACCAGGAGCTCATCCAAGATGTCCTGAAGCAGGTCAGGCAAGCTGGGAACTAGGGGAAGCACACAAGGTGCAGGGCGAAGGGGGGCCTGGGAAGCCTCTGACGTAACTCCGGCTGGCAGGGCTACCTGTGGAAGCGAGGGCACCTGAGAAGGAACTGGGCCGAACGCTGGTTCCAGCTGCAGCCCAGCTGCCTCTGCTACTTTGGGAGTGAAGAGTGCAAAGAGAAAAGGGGCATTATCCCGCTGGATGCACACTGCTGCGTGGAGGTGAGGGGCAGGATGGGGGTGGAGGACATCTCAGGGCCCAGAGTGTCCTCAGGGGCATGAGAAGACAAGGGGGTCAGGAGAGGGGCAAATGGAGAAAAGCCACAGTGACACAAATTCCTGCTTAGATTAGTGTGACCCAAATATATCCGGATGCCTCAAGGCCATTCTCATCCACGTCAGCACTTAAAACTAAAACTGCAACTCAAGCACCAAAGTAATTGGTGAATAATATGGAATTTGCTCAAGATTTCAGAGGAAGTGGCTTATATCTATACTACACAGCAAATCTTTCTAAAAATCCCTTTTAAAGGTTTTTCTTCTTCACCCATATTCCATTCCCTTTAGCAACTCTGTACTTCCCTATTCTCCTTCCATACCCCTCTCCTCTGTCTTCCCCTTCTGTTTCCTCCCTTGTGTTCATCACTATTTTAGAGGCTTAAAACACAAGCGTCTTTACTATTTTAAATAATATGTATATATGTGTGTGTAACATGAAACTTCCCATTTTAACTATTTTAAGCGTACAATTCAGTGGCATTAAATACATTCATGAAATTAAAAAATTCTTTTGATATATAACAGATGTACATATTTTCAGGGTACATGTGATAATTTAATACATTCATATATTTTATAAAAATCAAATCATGTCATTAGGTATCCTTTACCTCAAATATTTCTTTATGCTAGAAACATTCAAATTATTCTCTTCTATTTTGAAATATACAATAGATTATTGTAAACTGTAGCCACCCTACTGATCTATTGAATCCTAGGTCTTATTTTTCCTGTCAAACTGTATGTTTATACCCATTCATCAACCTCTCTTTGTCCTCCCCCCACACTTCCTGGCCTCTGGTACCACTAATATACTCTCTATCTTCATGTGATCCACTTTTTTAGCTCCCACATGTAAGTGAGAACATGCGATAGTTGTTTTTCTGTGTTTGGCTTATTCACTTAACAAAATGACCTATGGTGCCATCTATGTTGTTGCAAATGACAAGATTTCATTCTTTTTATGGCTGAATAATATTATATATATCACATTTTCTTAATCTATTTATCCACTTCTGGGCACTTAGGTTGATTTCATATTTTGGCCATTATGAATATCTCTGCAGTAAACATGGGAAGGCAGATATCTCTTCAATATATTGGTTTACTTTCTTTTAGATATATACCCAGCAGTGGAACTTCTAGATCATATGATAGTTCTATTTTTAGTTTTTTGAGGAACCTTCATACAGTTTTCCATAGTAGCTGTACTAATTTATATTCCCACTAACAGTTTATCAGGGTTCCCCTTTCTCCACGTCTTCTCCAGCATCTTTTTACAGAAAAGATATTCTTGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGTGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACCCCATCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAGATGGAGGTTGCAGTGAGTCAAGATTGCACCATTGCACTTCAGCCTGGGTGACAGGAGTGAAACTCTATCTCAAAAAAAAAAAAAAAAAAAAGATGTTCTCTATTTTTTTTGTAAAAAGCCATTTTAACTGGGATGAAATGATATCTCATTTAATTTTGATTTGCTTTTCTCTGATGATTAGTGACATTGAGCATTTTTTCATATCTCTGTTGACCAT
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Task1_train_10214
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A variant found in Chromosome 6 affects TULP1 (TUB like protein 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Leber congenital amaurosis
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CTCGGAGCCCTAGCGCGGTCCCGGGGAGAGGGGAGGTTAAAACAACAATGACTACTGCTCCCGGACAGGAAGTGACTGGGGCGCGGGGAGGAGGGGGGCACAGCGGCGCAGGCGAGCTCCGAGACCAGATGTGCGGCTCCAACTCCAGATGTTCTTCATCTCCGTCCTACCCGCCGTCCGGGCTCCTCCTGCCTCGGCCTGTGCCAGGCTGGGGAGAGGACGGAGGTCACCGAGAGGCAGTGAGAGGTCAGCCCCGACACAGGAGCAGTTTTCCGCGGGAGCTTTGCTGGAGGGACCCTGCCAGCCTCCACTGAATCCTTTCCCCCACGCTGACGGGCTCTGGGGGCGCTGAGGGGCTGCTGGGGTCACTCGCAGGCCAGCTTCCCGTCGAAACTGGAGAGGGCGATGGCGAAGGCCTGCAGGGCGCACAGCGGGTACCGGTAGTCTAGGGTGAAGGCGTCCTCCGCCACGCGGCCGAACTGCAGCACGATATAGTCGGCTATGGACACAAGACGGGGTGGGGGCGGCCCGAGACCTCCTTGGACCCCCATCCTGGCAGACAGTGCCCTCAACCTTGGGGGCAGTCTGTCCCTTGCCTTGGGGCTCCAACCCTCAGCCACCATCTCAGTTACTCAACACCCATCCCTTCTTCTATCTCACTCCACACCAGCACCACGTGGCTTTGCAGTCACACTATAATCTCCTGGGGGCAGGGACCTTGCCTTTCTGCTGCTGCCACAGGCCATGCCTAGAGCCCGCACCTGATTAACTATAGGACCCTGTCAAATTTATCCAAGCCCAGCATTCTTCCTTCCCAAATTCTCTGTTGTTTCTGGCCACAGTCTTTCCTCCTATCCCCAGCCACGAAGTCCCACCTTAGACCCCAGCTCCACCCCTTGACTAGCCCCTGGTTCCCTTCCTCAGCCTCACTGGGCACCTCTCCCTTCAATGATCCAGGTTCCCAGCCCCAACCTCAGCACCTCCCCCAGGATCCATAGGGACAGGAAGTTGCTAAAAATACCCCCAAACTCAGGTGGACGAGGCTCCACCAGAAACGTGATCTGGAGAGCAGTCCCACAGCCACAGGACAGGTGGCACTGGGGGCACATCCCTAGGATGCAGTTGGGGCTCGCTCAATGTTGGTCCAACCCTGTGAACCCAGAGACTTATGGGAGATACCCTTCCATCCCCAAACTTCCTCACCCTAGTGGGAAGGAAGCCTTTCCAACCAAGGCTTGTAACAGGGACACCTTGTTTCCCTGAGTCTTCCAGGGTAGTCCTTTGACCTCACTTGAGAGAAGACACAGAGTAGGCACTCAAAAATGCTTAATATTCCCTGCCCCTAAAAGGCAACCATCTTGAAGAGATTAAGAGCATGGCCACTGGAGATCCAGACTGTCAGCTCTACCTCCTACTAGTGATGTGACCGTGGGCAAGTTGCTTAACCTCTCTGTGCCTTAGTTTCCTGCCAAATAGGGATAATAATGGCACTCTTCACAGGGACGTTGAAGGGATTTAATGATTCAGTTATCTGTAAAATCCTGAGAACAGTGCCTGGCACATAGTAAACACTGTGTAAGTTTTGTGAAATAAATTTCGAGGGCCAGTGTAACTTCCTGAAGTTGCTGAGAGACTCTGGGCAAAGGGCTGCCCTCTCTGAGCCTCAGCACTCTCTTTGAACAAAGAGGAGTTGGGCTGTCCGTGGTTTTCAGACTCTAGGAGCCAACCCTCCCTTCAACACAATCTTATCCAGAATGTCCCAGTATCTAACCCACTGCTCTGGCCAATGCTGGAATGGGAACCTGAAGTGATGAGCCCCAAGACACCTGCTTAGAATATCTGAGGCTCCTGAGAGCACAGTGTCAGTGCCTATGGAGGAGAGAGTGACCCTGTGGGATGTCCCAGCTCTCGGGATAAAGGCTGGTGTGTGTGTGTGTGAGGGGGTGAGGGGAGCTTGAATGAAGGTCAGCATCCTGGGGGTGGTGGAGAAGAGCCAGACCTGGGCCCTCAGGTACTCACGGTCATCAGCGTGGACAATCTGGAAGTTCTTGACTGAGGCCTGGGTGACCCGGCCTTGGAAGTTGAGGGTGTAGGAGCCACTGTCATCGTTCCAGACAGGTGGCTTGTTGTGCAGTTCTATGAGGCTCTCCAGCGTCTTGTTCTGCCAGCGCACCAGCAGGCCGTCACTAGCCTGGGGTGCCCCAGGGGAGTAGACAGGGAGAGGACAGTTAGAGATGGCTGAGATGGCTCAGGACTGACCGGAGAAGGGGCCTGGGCATGTGTGCACAGGGGTGTGGCCTGGACATCTTCATCCATTAGGGTATCTGAGAATAGGCTTGGCATCTGTGGCATCCTTGTGGACAGGGTTCACATCTGTGAGAATGGGGCTTTGTCTCTGGGATGTCAAAGCGGAGGGCTGGAAAATGGCAAGGGGCATCTGGCACATAGGCGCTCCATGCCATTGGTACCCAGGTGGTCTTAGGAGACAGACACACACCAGTACCTAATGACAGGATGAGCCAATCTTGGACCTGCAAAGGGCACACAGTTGAGCTGGGGAGATGGATAGGTAAATTGCAGTTAAGAGAAAGTGTACTTGGAGGAGAGTTTCTGAAAGGAAGGAGCAGGGTCTGTATAATGTGCCCTTAAGATCTTTCTTTCTTGAGTTTCCTTGTCGCCTGCTCACGTTCATGGATTAGAGTGAGTCCACTCAAGATCACCTCCAAGAAGCCTTCCTGACCCCCCATCTGATTTAGATGTCTCAGCTCTGAGTTTCCATGACACCTTGCTCTTACCATTCCTCCCACTGCACTGTAATTGGCAAAAGAGAGACCCGAAACAGCACCAGGCATTTCTTACTGGGCCCAAACAAGGGCAGGAGATGCTGCCTCTGGGGGATTTGTGTGTTTATTCCAGGCATAGGAAGGACAACTGTGGGGCCCACAGGCTGAGTGAACCCTCAAGACTGAGCCTCCCATGACTGGTGCCCTGCAGATCAGCCTGGGCCGTGACTTTCCAGCAGGGAAGGATGTGTGATCAGCTGACGGGGTATTATCTTTCATTGTAAATGAGTAAAATGACATCAGTCTCCTGTGAGGATGGGGCATGCGAGTCACCCAGAGTCTCTTAAATCCTGGACTCACTGGACCTGCAGTGCTAAAGAGCAGAGCACGGGACTGACACGTCTCTCCAGAACATCTCTCCATCTTAAACTCACACACACACACACGCAAAACAACTTTTGCTTTTTAAAATACAAGTCATGCCAAGCACAGTGGCTCACGCATATAATCCCAACACTTTGAGAAGCCGAGACGAGAGGATCACTTCAGGAATTTAAGACCAGCCTGGGCAACAAAGTGAGACCCTGGCTCTACAAAAAACTAGCCAGGTATGGTGGCATGTGCCTAGGGTCTCAGCTACATGAGAGGCTGAGGCAGGAAGCAGCACTGTTTGAAGCCAGGAGGTCGAGGCTGCAGTAAGTCATGATCATACCACTGTACTCTAGCCTGGGCTGGAGTGAGACCCAGAGTGAGACTCGGTCTCAGAAAAAAAAAAAAAAAAAAAAGGCTGGGCACAGTGGCTCAGGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGTGGGTCACTTGAGGTCAGGAGTTCAAGACCAACCTGGCCATCATGGCAAAACCGCGTCTCTACTGAAAATACAAAAATTAGCTGAGCATGGTGGTATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTG
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CTCGGAGCCCTAGCGCGGTCCCGGGGAGAGGGGAGGTTAAAACAACAATGACTACTGCTCCCGGACAGGAAGTGACTGGGGCGCGGGGAGGAGGGGGGCACAGCGGCGCAGGCGAGCTCCGAGACCAGATGTGCGGCTCCAACTCCAGATGTTCTTCATCTCCGTCCTACCCGCCGTCCGGGCTCCTCCTGCCTCGGCCTGTGCCAGGCTGGGGAGAGGACGGAGGTCACCGAGAGGCAGTGAGAGGTCAGCCCCGACACAGGAGCAGTTTTCCGCGGGAGCTTTGCTGGAGGGACCCTGCCAGCCTCCACTGAATCCTTTCCCCCACGCTGACGGGCTCTGGGGGCGCTGAGGGGCTGCTGGGGTCACTCGCAGGCCAGCTTCCCGTCGAAACTGGAGAGGGCGATGGCGAAGGCCTGCAGGGCGCACAGCGGGTACCGGTAGTCTAGGGTGAAGGCGTCCTCCGCCACGCGGCCGAACTGCAGCACGATATAGTCGGCTATGGACACAAGACGGGGTGGGGGCGGCCCGAGACCTCCTTGGACCCCCATCCTGGCAGACAGTGCCCTCAACCTTGGGGGCAGTCTGTCCCTTGCCTTGGGGCTCCAACCCTCAGCCACCATCTCAGTTACTCAACACCCATCCCTTCTTCTATCTCACTCCACACCAGCACCACGTGGCTTTGCAGTCACACTATAATCTCCTGGGGGCAGGGACCTTGCCTTTCTGCTGCTGCCACAGGCCATGCCTAGAGCCCGCACCTGATTAACTATAGGACCCTGTCAAATTTATCCAAGCCCAGCATTCTTCCTTCCCAAATTCTCTGTTGTTTCTGGCCACAGTCTTTCCTCCTATCCCCAGCCACGAAGTCCCACCTTAGACCCCAGCTCCACCCCTTGACTAGCCCCTGGTTCCCTTCCTCAGCCTCACTGGGCACCTCTCCCTTCAATGATCCAGGTTCCCAGCCCCAACCTCAGCACCTCCCCCAGGATCCATAGGGACAGGAAGTTGCTAAAAATACCCCCAAACTCAGGTGGACGAGGCTCCACCAGAAACGTGATCTGGAGAGCAGTCCCACAGCCACAGGACAGGTGGCACTGGGGGCACATCCCTAGGATGCAGTTGGGGCTCGCTCAATGTTGGTCCAACCCTGTGAACCCAGAGACTTATGGGAGATACCCTTCCATCCCCAAACTTCCTCACCCTAGTGGGAAGGAAGCCTTTCCAACCAAGGCTTGTAACAGGGACACCTTGTTTCCCTGAGTCTTCCAGGGTAGTCCTTTGACCTCACTTGAGAGAAGACACAGAGTAGGCACTCAAAAATGCTTAATATTCCCTGCCCCTAAAAGGCAACCATCTTGAAGAGATTAAGAGCATGGCCACTGGAGATCCAGACTGTCAGCTCTACCTCCTACTAGTGATGTGACCGTGGGCAAGTTGCTTAACCTCTCTGTGCCTTAGTTTCCTGCCAAATAGGGATAATAATGGCACTCTTCACAGGGACGTTGAAGGGATTTAATGATTCAGTTATCTGTAAAATCCTGAGAACAGTGCCTGGCACATAGTAAACACTGTGTAAGTTTTGTGAAATAAATTTCGAGGGCCAGTGTAACTTCCTGAAGTTGCTGAGAGACTCTGGGCAAAGGGCTGCCCTCTCTGAGCCTCAGCACTCTCTTTGAACAAAGAGGAGTTGGGCTGTCCGTGGTTTTCAGACTCTAGGAGCCAACCCTCCCTTCAACACAATCTTATCCAGAATGTCCCAGTATCTAACCCACTGCTCTGGCCAATGCTGGAATGGGAACCTGAAGTGATGAGCCCCAAGACACCTGCTTAGAATATCTGAGGCTCCTGAGAGCACAGTGTCAGTGCCTATGGAGGAGAGAGTGACCCTGTGGGATGTCCCAGCTCTCGGGATAAAGGCTGGTGTGTGTGTGTGTGAGGGGGTGAGGGGAGCTTGAATGAAGGTCAGCATCCTGGGGGTGGTGGAGAAGAGCCAGACCTGGGCCCTCAGGTACTCACGGTCATCAGCGTGGACAATCTGGAAGTTCCTGACTGAGGCCTGGGTGACCCGGCCTTGGAAGTTGAGGGTGTAGGAGCCACTGTCATCGTTCCAGACAGGTGGCTTGTTGTGCAGTTCTATGAGGCTCTCCAGCGTCTTGTTCTGCCAGCGCACCAGCAGGCCGTCACTAGCCTGGGGTGCCCCAGGGGAGTAGACAGGGAGAGGACAGTTAGAGATGGCTGAGATGGCTCAGGACTGACCGGAGAAGGGGCCTGGGCATGTGTGCACAGGGGTGTGGCCTGGACATCTTCATCCATTAGGGTATCTGAGAATAGGCTTGGCATCTGTGGCATCCTTGTGGACAGGGTTCACATCTGTGAGAATGGGGCTTTGTCTCTGGGATGTCAAAGCGGAGGGCTGGAAAATGGCAAGGGGCATCTGGCACATAGGCGCTCCATGCCATTGGTACCCAGGTGGTCTTAGGAGACAGACACACACCAGTACCTAATGACAGGATGAGCCAATCTTGGACCTGCAAAGGGCACACAGTTGAGCTGGGGAGATGGATAGGTAAATTGCAGTTAAGAGAAAGTGTACTTGGAGGAGAGTTTCTGAAAGGAAGGAGCAGGGTCTGTATAATGTGCCCTTAAGATCTTTCTTTCTTGAGTTTCCTTGTCGCCTGCTCACGTTCATGGATTAGAGTGAGTCCACTCAAGATCACCTCCAAGAAGCCTTCCTGACCCCCCATCTGATTTAGATGTCTCAGCTCTGAGTTTCCATGACACCTTGCTCTTACCATTCCTCCCACTGCACTGTAATTGGCAAAAGAGAGACCCGAAACAGCACCAGGCATTTCTTACTGGGCCCAAACAAGGGCAGGAGATGCTGCCTCTGGGGGATTTGTGTGTTTATTCCAGGCATAGGAAGGACAACTGTGGGGCCCACAGGCTGAGTGAACCCTCAAGACTGAGCCTCCCATGACTGGTGCCCTGCAGATCAGCCTGGGCCGTGACTTTCCAGCAGGGAAGGATGTGTGATCAGCTGACGGGGTATTATCTTTCATTGTAAATGAGTAAAATGACATCAGTCTCCTGTGAGGATGGGGCATGCGAGTCACCCAGAGTCTCTTAAATCCTGGACTCACTGGACCTGCAGTGCTAAAGAGCAGAGCACGGGACTGACACGTCTCTCCAGAACATCTCTCCATCTTAAACTCACACACACACACACGCAAAACAACTTTTGCTTTTTAAAATACAAGTCATGCCAAGCACAGTGGCTCACGCATATAATCCCAACACTTTGAGAAGCCGAGACGAGAGGATCACTTCAGGAATTTAAGACCAGCCTGGGCAACAAAGTGAGACCCTGGCTCTACAAAAAACTAGCCAGGTATGGTGGCATGTGCCTAGGGTCTCAGCTACATGAGAGGCTGAGGCAGGAAGCAGCACTGTTTGAAGCCAGGAGGTCGAGGCTGCAGTAAGTCATGATCATACCACTGTACTCTAGCCTGGGCTGGAGTGAGACCCAGAGTGAGACTCGGTCTCAGAAAAAAAAAAAAAAAAAAAAGGCTGGGCACAGTGGCTCAGGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGTGGGTCACTTGAGGTCAGGAGTTCAAGACCAACCTGGCCATCATGGCAAAACCGCGTCTCTACTGAAAATACAAAAATTAGCTGAGCATGGTGGTATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTG
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Task1_train_10215
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This variant lies on Chromosome 6 and affects the gene TULP1 (TUB like protein 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Retinal dystrophy
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CTCGGAGCCCTAGCGCGGTCCCGGGGAGAGGGGAGGTTAAAACAACAATGACTACTGCTCCCGGACAGGAAGTGACTGGGGCGCGGGGAGGAGGGGGGCACAGCGGCGCAGGCGAGCTCCGAGACCAGATGTGCGGCTCCAACTCCAGATGTTCTTCATCTCCGTCCTACCCGCCGTCCGGGCTCCTCCTGCCTCGGCCTGTGCCAGGCTGGGGAGAGGACGGAGGTCACCGAGAGGCAGTGAGAGGTCAGCCCCGACACAGGAGCAGTTTTCCGCGGGAGCTTTGCTGGAGGGACCCTGCCAGCCTCCACTGAATCCTTTCCCCCACGCTGACGGGCTCTGGGGGCGCTGAGGGGCTGCTGGGGTCACTCGCAGGCCAGCTTCCCGTCGAAACTGGAGAGGGCGATGGCGAAGGCCTGCAGGGCGCACAGCGGGTACCGGTAGTCTAGGGTGAAGGCGTCCTCCGCCACGCGGCCGAACTGCAGCACGATATAGTCGGCTATGGACACAAGACGGGGTGGGGGCGGCCCGAGACCTCCTTGGACCCCCATCCTGGCAGACAGTGCCCTCAACCTTGGGGGCAGTCTGTCCCTTGCCTTGGGGCTCCAACCCTCAGCCACCATCTCAGTTACTCAACACCCATCCCTTCTTCTATCTCACTCCACACCAGCACCACGTGGCTTTGCAGTCACACTATAATCTCCTGGGGGCAGGGACCTTGCCTTTCTGCTGCTGCCACAGGCCATGCCTAGAGCCCGCACCTGATTAACTATAGGACCCTGTCAAATTTATCCAAGCCCAGCATTCTTCCTTCCCAAATTCTCTGTTGTTTCTGGCCACAGTCTTTCCTCCTATCCCCAGCCACGAAGTCCCACCTTAGACCCCAGCTCCACCCCTTGACTAGCCCCTGGTTCCCTTCCTCAGCCTCACTGGGCACCTCTCCCTTCAATGATCCAGGTTCCCAGCCCCAACCTCAGCACCTCCCCCAGGATCCATAGGGACAGGAAGTTGCTAAAAATACCCCCAAACTCAGGTGGACGAGGCTCCACCAGAAACGTGATCTGGAGAGCAGTCCCACAGCCACAGGACAGGTGGCACTGGGGGCACATCCCTAGGATGCAGTTGGGGCTCGCTCAATGTTGGTCCAACCCTGTGAACCCAGAGACTTATGGGAGATACCCTTCCATCCCCAAACTTCCTCACCCTAGTGGGAAGGAAGCCTTTCCAACCAAGGCTTGTAACAGGGACACCTTGTTTCCCTGAGTCTTCCAGGGTAGTCCTTTGACCTCACTTGAGAGAAGACACAGAGTAGGCACTCAAAAATGCTTAATATTCCCTGCCCCTAAAAGGCAACCATCTTGAAGAGATTAAGAGCATGGCCACTGGAGATCCAGACTGTCAGCTCTACCTCCTACTAGTGATGTGACCGTGGGCAAGTTGCTTAACCTCTCTGTGCCTTAGTTTCCTGCCAAATAGGGATAATAATGGCACTCTTCACAGGGACGTTGAAGGGATTTAATGATTCAGTTATCTGTAAAATCCTGAGAACAGTGCCTGGCACATAGTAAACACTGTGTAAGTTTTGTGAAATAAATTTCGAGGGCCAGTGTAACTTCCTGAAGTTGCTGAGAGACTCTGGGCAAAGGGCTGCCCTCTCTGAGCCTCAGCACTCTCTTTGAACAAAGAGGAGTTGGGCTGTCCGTGGTTTTCAGACTCTAGGAGCCAACCCTCCCTTCAACACAATCTTATCCAGAATGTCCCAGTATCTAACCCACTGCTCTGGCCAATGCTGGAATGGGAACCTGAAGTGATGAGCCCCAAGACACCTGCTTAGAATATCTGAGGCTCCTGAGAGCACAGTGTCAGTGCCTATGGAGGAGAGAGTGACCCTGTGGGATGTCCCAGCTCTCGGGATAAAGGCTGGTGTGTGTGTGTGTGAGGGGGTGAGGGGAGCTTGAATGAAGGTCAGCATCCTGGGGGTGGTGGAGAAGAGCCAGACCTGGGCCCTCAGGTACTCACGGTCATCAGCGTGGACAATCTGGAAGTTCTTGACTGAGGCCTGGGTGACCCGGCCTTGGAAGTTGAGGGTGTAGGAGCCACTGTCATCGTTCCAGACAGGTGGCTTGTTGTGCAGTTCTATGAGGCTCTCCAGCGTCTTGTTCTGCCAGCGCACCAGCAGGCCGTCACTAGCCTGGGGTGCCCCAGGGGAGTAGACAGGGAGAGGACAGTTAGAGATGGCTGAGATGGCTCAGGACTGACCGGAGAAGGGGCCTGGGCATGTGTGCACAGGGGTGTGGCCTGGACATCTTCATCCATTAGGGTATCTGAGAATAGGCTTGGCATCTGTGGCATCCTTGTGGACAGGGTTCACATCTGTGAGAATGGGGCTTTGTCTCTGGGATGTCAAAGCGGAGGGCTGGAAAATGGCAAGGGGCATCTGGCACATAGGCGCTCCATGCCATTGGTACCCAGGTGGTCTTAGGAGACAGACACACACCAGTACCTAATGACAGGATGAGCCAATCTTGGACCTGCAAAGGGCACACAGTTGAGCTGGGGAGATGGATAGGTAAATTGCAGTTAAGAGAAAGTGTACTTGGAGGAGAGTTTCTGAAAGGAAGGAGCAGGGTCTGTATAATGTGCCCTTAAGATCTTTCTTTCTTGAGTTTCCTTGTCGCCTGCTCACGTTCATGGATTAGAGTGAGTCCACTCAAGATCACCTCCAAGAAGCCTTCCTGACCCCCCATCTGATTTAGATGTCTCAGCTCTGAGTTTCCATGACACCTTGCTCTTACCATTCCTCCCACTGCACTGTAATTGGCAAAAGAGAGACCCGAAACAGCACCAGGCATTTCTTACTGGGCCCAAACAAGGGCAGGAGATGCTGCCTCTGGGGGATTTGTGTGTTTATTCCAGGCATAGGAAGGACAACTGTGGGGCCCACAGGCTGAGTGAACCCTCAAGACTGAGCCTCCCATGACTGGTGCCCTGCAGATCAGCCTGGGCCGTGACTTTCCAGCAGGGAAGGATGTGTGATCAGCTGACGGGGTATTATCTTTCATTGTAAATGAGTAAAATGACATCAGTCTCCTGTGAGGATGGGGCATGCGAGTCACCCAGAGTCTCTTAAATCCTGGACTCACTGGACCTGCAGTGCTAAAGAGCAGAGCACGGGACTGACACGTCTCTCCAGAACATCTCTCCATCTTAAACTCACACACACACACACGCAAAACAACTTTTGCTTTTTAAAATACAAGTCATGCCAAGCACAGTGGCTCACGCATATAATCCCAACACTTTGAGAAGCCGAGACGAGAGGATCACTTCAGGAATTTAAGACCAGCCTGGGCAACAAAGTGAGACCCTGGCTCTACAAAAAACTAGCCAGGTATGGTGGCATGTGCCTAGGGTCTCAGCTACATGAGAGGCTGAGGCAGGAAGCAGCACTGTTTGAAGCCAGGAGGTCGAGGCTGCAGTAAGTCATGATCATACCACTGTACTCTAGCCTGGGCTGGAGTGAGACCCAGAGTGAGACTCGGTCTCAGAAAAAAAAAAAAAAAAAAAAGGCTGGGCACAGTGGCTCAGGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGTGGGTCACTTGAGGTCAGGAGTTCAAGACCAACCTGGCCATCATGGCAAAACCGCGTCTCTACTGAAAATACAAAAATTAGCTGAGCATGGTGGTATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTG
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CTCGGAGCCCTAGCGCGGTCCCGGGGAGAGGGGAGGTTAAAACAACAATGACTACTGCTCCCGGACAGGAAGTGACTGGGGCGCGGGGAGGAGGGGGGCACAGCGGCGCAGGCGAGCTCCGAGACCAGATGTGCGGCTCCAACTCCAGATGTTCTTCATCTCCGTCCTACCCGCCGTCCGGGCTCCTCCTGCCTCGGCCTGTGCCAGGCTGGGGAGAGGACGGAGGTCACCGAGAGGCAGTGAGAGGTCAGCCCCGACACAGGAGCAGTTTTCCGCGGGAGCTTTGCTGGAGGGACCCTGCCAGCCTCCACTGAATCCTTTCCCCCACGCTGACGGGCTCTGGGGGCGCTGAGGGGCTGCTGGGGTCACTCGCAGGCCAGCTTCCCGTCGAAACTGGAGAGGGCGATGGCGAAGGCCTGCAGGGCGCACAGCGGGTACCGGTAGTCTAGGGTGAAGGCGTCCTCCGCCACGCGGCCGAACTGCAGCACGATATAGTCGGCTATGGACACAAGACGGGGTGGGGGCGGCCCGAGACCTCCTTGGACCCCCATCCTGGCAGACAGTGCCCTCAACCTTGGGGGCAGTCTGTCCCTTGCCTTGGGGCTCCAACCCTCAGCCACCATCTCAGTTACTCAACACCCATCCCTTCTTCTATCTCACTCCACACCAGCACCACGTGGCTTTGCAGTCACACTATAATCTCCTGGGGGCAGGGACCTTGCCTTTCTGCTGCTGCCACAGGCCATGCCTAGAGCCCGCACCTGATTAACTATAGGACCCTGTCAAATTTATCCAAGCCCAGCATTCTTCCTTCCCAAATTCTCTGTTGTTTCTGGCCACAGTCTTTCCTCCTATCCCCAGCCACGAAGTCCCACCTTAGACCCCAGCTCCACCCCTTGACTAGCCCCTGGTTCCCTTCCTCAGCCTCACTGGGCACCTCTCCCTTCAATGATCCAGGTTCCCAGCCCCAACCTCAGCACCTCCCCCAGGATCCATAGGGACAGGAAGTTGCTAAAAATACCCCCAAACTCAGGTGGACGAGGCTCCACCAGAAACGTGATCTGGAGAGCAGTCCCACAGCCACAGGACAGGTGGCACTGGGGGCACATCCCTAGGATGCAGTTGGGGCTCGCTCAATGTTGGTCCAACCCTGTGAACCCAGAGACTTATGGGAGATACCCTTCCATCCCCAAACTTCCTCACCCTAGTGGGAAGGAAGCCTTTCCAACCAAGGCTTGTAACAGGGACACCTTGTTTCCCTGAGTCTTCCAGGGTAGTCCTTTGACCTCACTTGAGAGAAGACACAGAGTAGGCACTCAAAAATGCTTAATATTCCCTGCCCCTAAAAGGCAACCATCTTGAAGAGATTAAGAGCATGGCCACTGGAGATCCAGACTGTCAGCTCTACCTCCTACTAGTGATGTGACCGTGGGCAAGTTGCTTAACCTCTCTGTGCCTTAGTTTCCTGCCAAATAGGGATAATAATGGCACTCTTCACAGGGACGTTGAAGGGATTTAATGATTCAGTTATCTGTAAAATCCTGAGAACAGTGCCTGGCACATAGTAAACACTGTGTAAGTTTTGTGAAATAAATTTCGAGGGCCAGTGTAACTTCCTGAAGTTGCTGAGAGACTCTGGGCAAAGGGCTGCCCTCTCTGAGCCTCAGCACTCTCTTTGAACAAAGAGGAGTTGGGCTGTCCGTGGTTTTCAGACTCTAGGAGCCAACCCTCCCTTCAACACAATCTTATCCAGAATGTCCCAGTATCTAACCCACTGCTCTGGCCAATGCTGGAATGGGAACCTGAAGTGATGAGCCCCAAGACACCTGCTTAGAATATCTGAGGCTCCTGAGAGCACAGTGTCAGTGCCTATGGAGGAGAGAGTGACCCTGTGGGATGTCCCAGCTCTCGGGATAAAGGCTGGTGTGTGTGTGTGTGAGGGGGTGAGGGGAGCTTGAATGAAGGTCAGCATCCTGGGGGTGGTGGAGAAGAGCCAGACCTGGGCCCTCAGGTACTCACGGTCATCAGCGTGGACAATCTGGAAGTTCCTGACTGAGGCCTGGGTGACCCGGCCTTGGAAGTTGAGGGTGTAGGAGCCACTGTCATCGTTCCAGACAGGTGGCTTGTTGTGCAGTTCTATGAGGCTCTCCAGCGTCTTGTTCTGCCAGCGCACCAGCAGGCCGTCACTAGCCTGGGGTGCCCCAGGGGAGTAGACAGGGAGAGGACAGTTAGAGATGGCTGAGATGGCTCAGGACTGACCGGAGAAGGGGCCTGGGCATGTGTGCACAGGGGTGTGGCCTGGACATCTTCATCCATTAGGGTATCTGAGAATAGGCTTGGCATCTGTGGCATCCTTGTGGACAGGGTTCACATCTGTGAGAATGGGGCTTTGTCTCTGGGATGTCAAAGCGGAGGGCTGGAAAATGGCAAGGGGCATCTGGCACATAGGCGCTCCATGCCATTGGTACCCAGGTGGTCTTAGGAGACAGACACACACCAGTACCTAATGACAGGATGAGCCAATCTTGGACCTGCAAAGGGCACACAGTTGAGCTGGGGAGATGGATAGGTAAATTGCAGTTAAGAGAAAGTGTACTTGGAGGAGAGTTTCTGAAAGGAAGGAGCAGGGTCTGTATAATGTGCCCTTAAGATCTTTCTTTCTTGAGTTTCCTTGTCGCCTGCTCACGTTCATGGATTAGAGTGAGTCCACTCAAGATCACCTCCAAGAAGCCTTCCTGACCCCCCATCTGATTTAGATGTCTCAGCTCTGAGTTTCCATGACACCTTGCTCTTACCATTCCTCCCACTGCACTGTAATTGGCAAAAGAGAGACCCGAAACAGCACCAGGCATTTCTTACTGGGCCCAAACAAGGGCAGGAGATGCTGCCTCTGGGGGATTTGTGTGTTTATTCCAGGCATAGGAAGGACAACTGTGGGGCCCACAGGCTGAGTGAACCCTCAAGACTGAGCCTCCCATGACTGGTGCCCTGCAGATCAGCCTGGGCCGTGACTTTCCAGCAGGGAAGGATGTGTGATCAGCTGACGGGGTATTATCTTTCATTGTAAATGAGTAAAATGACATCAGTCTCCTGTGAGGATGGGGCATGCGAGTCACCCAGAGTCTCTTAAATCCTGGACTCACTGGACCTGCAGTGCTAAAGAGCAGAGCACGGGACTGACACGTCTCTCCAGAACATCTCTCCATCTTAAACTCACACACACACACACGCAAAACAACTTTTGCTTTTTAAAATACAAGTCATGCCAAGCACAGTGGCTCACGCATATAATCCCAACACTTTGAGAAGCCGAGACGAGAGGATCACTTCAGGAATTTAAGACCAGCCTGGGCAACAAAGTGAGACCCTGGCTCTACAAAAAACTAGCCAGGTATGGTGGCATGTGCCTAGGGTCTCAGCTACATGAGAGGCTGAGGCAGGAAGCAGCACTGTTTGAAGCCAGGAGGTCGAGGCTGCAGTAAGTCATGATCATACCACTGTACTCTAGCCTGGGCTGGAGTGAGACCCAGAGTGAGACTCGGTCTCAGAAAAAAAAAAAAAAAAAAAAGGCTGGGCACAGTGGCTCAGGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGTGGGTCACTTGAGGTCAGGAGTTCAAGACCAACCTGGCCATCATGGCAAAACCGCGTCTCTACTGAAAATACAAAAATTAGCTGAGCATGGTGGTATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTG
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Task1_train_10216
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The gene TULP1 (TUB like protein 1) on Chromosome 6 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Retinitis pigmentosa 14
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CTCGGAGCCCTAGCGCGGTCCCGGGGAGAGGGGAGGTTAAAACAACAATGACTACTGCTCCCGGACAGGAAGTGACTGGGGCGCGGGGAGGAGGGGGGCACAGCGGCGCAGGCGAGCTCCGAGACCAGATGTGCGGCTCCAACTCCAGATGTTCTTCATCTCCGTCCTACCCGCCGTCCGGGCTCCTCCTGCCTCGGCCTGTGCCAGGCTGGGGAGAGGACGGAGGTCACCGAGAGGCAGTGAGAGGTCAGCCCCGACACAGGAGCAGTTTTCCGCGGGAGCTTTGCTGGAGGGACCCTGCCAGCCTCCACTGAATCCTTTCCCCCACGCTGACGGGCTCTGGGGGCGCTGAGGGGCTGCTGGGGTCACTCGCAGGCCAGCTTCCCGTCGAAACTGGAGAGGGCGATGGCGAAGGCCTGCAGGGCGCACAGCGGGTACCGGTAGTCTAGGGTGAAGGCGTCCTCCGCCACGCGGCCGAACTGCAGCACGATATAGTCGGCTATGGACACAAGACGGGGTGGGGGCGGCCCGAGACCTCCTTGGACCCCCATCCTGGCAGACAGTGCCCTCAACCTTGGGGGCAGTCTGTCCCTTGCCTTGGGGCTCCAACCCTCAGCCACCATCTCAGTTACTCAACACCCATCCCTTCTTCTATCTCACTCCACACCAGCACCACGTGGCTTTGCAGTCACACTATAATCTCCTGGGGGCAGGGACCTTGCCTTTCTGCTGCTGCCACAGGCCATGCCTAGAGCCCGCACCTGATTAACTATAGGACCCTGTCAAATTTATCCAAGCCCAGCATTCTTCCTTCCCAAATTCTCTGTTGTTTCTGGCCACAGTCTTTCCTCCTATCCCCAGCCACGAAGTCCCACCTTAGACCCCAGCTCCACCCCTTGACTAGCCCCTGGTTCCCTTCCTCAGCCTCACTGGGCACCTCTCCCTTCAATGATCCAGGTTCCCAGCCCCAACCTCAGCACCTCCCCCAGGATCCATAGGGACAGGAAGTTGCTAAAAATACCCCCAAACTCAGGTGGACGAGGCTCCACCAGAAACGTGATCTGGAGAGCAGTCCCACAGCCACAGGACAGGTGGCACTGGGGGCACATCCCTAGGATGCAGTTGGGGCTCGCTCAATGTTGGTCCAACCCTGTGAACCCAGAGACTTATGGGAGATACCCTTCCATCCCCAAACTTCCTCACCCTAGTGGGAAGGAAGCCTTTCCAACCAAGGCTTGTAACAGGGACACCTTGTTTCCCTGAGTCTTCCAGGGTAGTCCTTTGACCTCACTTGAGAGAAGACACAGAGTAGGCACTCAAAAATGCTTAATATTCCCTGCCCCTAAAAGGCAACCATCTTGAAGAGATTAAGAGCATGGCCACTGGAGATCCAGACTGTCAGCTCTACCTCCTACTAGTGATGTGACCGTGGGCAAGTTGCTTAACCTCTCTGTGCCTTAGTTTCCTGCCAAATAGGGATAATAATGGCACTCTTCACAGGGACGTTGAAGGGATTTAATGATTCAGTTATCTGTAAAATCCTGAGAACAGTGCCTGGCACATAGTAAACACTGTGTAAGTTTTGTGAAATAAATTTCGAGGGCCAGTGTAACTTCCTGAAGTTGCTGAGAGACTCTGGGCAAAGGGCTGCCCTCTCTGAGCCTCAGCACTCTCTTTGAACAAAGAGGAGTTGGGCTGTCCGTGGTTTTCAGACTCTAGGAGCCAACCCTCCCTTCAACACAATCTTATCCAGAATGTCCCAGTATCTAACCCACTGCTCTGGCCAATGCTGGAATGGGAACCTGAAGTGATGAGCCCCAAGACACCTGCTTAGAATATCTGAGGCTCCTGAGAGCACAGTGTCAGTGCCTATGGAGGAGAGAGTGACCCTGTGGGATGTCCCAGCTCTCGGGATAAAGGCTGGTGTGTGTGTGTGTGAGGGGGTGAGGGGAGCTTGAATGAAGGTCAGCATCCTGGGGGTGGTGGAGAAGAGCCAGACCTGGGCCCTCAGGTACTCACGGTCATCAGCGTGGACAATCTGGAAGTTCTTGACTGAGGCCTGGGTGACCCGGCCTTGGAAGTTGAGGGTGTAGGAGCCACTGTCATCGTTCCAGACAGGTGGCTTGTTGTGCAGTTCTATGAGGCTCTCCAGCGTCTTGTTCTGCCAGCGCACCAGCAGGCCGTCACTAGCCTGGGGTGCCCCAGGGGAGTAGACAGGGAGAGGACAGTTAGAGATGGCTGAGATGGCTCAGGACTGACCGGAGAAGGGGCCTGGGCATGTGTGCACAGGGGTGTGGCCTGGACATCTTCATCCATTAGGGTATCTGAGAATAGGCTTGGCATCTGTGGCATCCTTGTGGACAGGGTTCACATCTGTGAGAATGGGGCTTTGTCTCTGGGATGTCAAAGCGGAGGGCTGGAAAATGGCAAGGGGCATCTGGCACATAGGCGCTCCATGCCATTGGTACCCAGGTGGTCTTAGGAGACAGACACACACCAGTACCTAATGACAGGATGAGCCAATCTTGGACCTGCAAAGGGCACACAGTTGAGCTGGGGAGATGGATAGGTAAATTGCAGTTAAGAGAAAGTGTACTTGGAGGAGAGTTTCTGAAAGGAAGGAGCAGGGTCTGTATAATGTGCCCTTAAGATCTTTCTTTCTTGAGTTTCCTTGTCGCCTGCTCACGTTCATGGATTAGAGTGAGTCCACTCAAGATCACCTCCAAGAAGCCTTCCTGACCCCCCATCTGATTTAGATGTCTCAGCTCTGAGTTTCCATGACACCTTGCTCTTACCATTCCTCCCACTGCACTGTAATTGGCAAAAGAGAGACCCGAAACAGCACCAGGCATTTCTTACTGGGCCCAAACAAGGGCAGGAGATGCTGCCTCTGGGGGATTTGTGTGTTTATTCCAGGCATAGGAAGGACAACTGTGGGGCCCACAGGCTGAGTGAACCCTCAAGACTGAGCCTCCCATGACTGGTGCCCTGCAGATCAGCCTGGGCCGTGACTTTCCAGCAGGGAAGGATGTGTGATCAGCTGACGGGGTATTATCTTTCATTGTAAATGAGTAAAATGACATCAGTCTCCTGTGAGGATGGGGCATGCGAGTCACCCAGAGTCTCTTAAATCCTGGACTCACTGGACCTGCAGTGCTAAAGAGCAGAGCACGGGACTGACACGTCTCTCCAGAACATCTCTCCATCTTAAACTCACACACACACACACGCAAAACAACTTTTGCTTTTTAAAATACAAGTCATGCCAAGCACAGTGGCTCACGCATATAATCCCAACACTTTGAGAAGCCGAGACGAGAGGATCACTTCAGGAATTTAAGACCAGCCTGGGCAACAAAGTGAGACCCTGGCTCTACAAAAAACTAGCCAGGTATGGTGGCATGTGCCTAGGGTCTCAGCTACATGAGAGGCTGAGGCAGGAAGCAGCACTGTTTGAAGCCAGGAGGTCGAGGCTGCAGTAAGTCATGATCATACCACTGTACTCTAGCCTGGGCTGGAGTGAGACCCAGAGTGAGACTCGGTCTCAGAAAAAAAAAAAAAAAAAAAAGGCTGGGCACAGTGGCTCAGGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGTGGGTCACTTGAGGTCAGGAGTTCAAGACCAACCTGGCCATCATGGCAAAACCGCGTCTCTACTGAAAATACAAAAATTAGCTGAGCATGGTGGTATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTG
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CTCGGAGCCCTAGCGCGGTCCCGGGGAGAGGGGAGGTTAAAACAACAATGACTACTGCTCCCGGACAGGAAGTGACTGGGGCGCGGGGAGGAGGGGGGCACAGCGGCGCAGGCGAGCTCCGAGACCAGATGTGCGGCTCCAACTCCAGATGTTCTTCATCTCCGTCCTACCCGCCGTCCGGGCTCCTCCTGCCTCGGCCTGTGCCAGGCTGGGGAGAGGACGGAGGTCACCGAGAGGCAGTGAGAGGTCAGCCCCGACACAGGAGCAGTTTTCCGCGGGAGCTTTGCTGGAGGGACCCTGCCAGCCTCCACTGAATCCTTTCCCCCACGCTGACGGGCTCTGGGGGCGCTGAGGGGCTGCTGGGGTCACTCGCAGGCCAGCTTCCCGTCGAAACTGGAGAGGGCGATGGCGAAGGCCTGCAGGGCGCACAGCGGGTACCGGTAGTCTAGGGTGAAGGCGTCCTCCGCCACGCGGCCGAACTGCAGCACGATATAGTCGGCTATGGACACAAGACGGGGTGGGGGCGGCCCGAGACCTCCTTGGACCCCCATCCTGGCAGACAGTGCCCTCAACCTTGGGGGCAGTCTGTCCCTTGCCTTGGGGCTCCAACCCTCAGCCACCATCTCAGTTACTCAACACCCATCCCTTCTTCTATCTCACTCCACACCAGCACCACGTGGCTTTGCAGTCACACTATAATCTCCTGGGGGCAGGGACCTTGCCTTTCTGCTGCTGCCACAGGCCATGCCTAGAGCCCGCACCTGATTAACTATAGGACCCTGTCAAATTTATCCAAGCCCAGCATTCTTCCTTCCCAAATTCTCTGTTGTTTCTGGCCACAGTCTTTCCTCCTATCCCCAGCCACGAAGTCCCACCTTAGACCCCAGCTCCACCCCTTGACTAGCCCCTGGTTCCCTTCCTCAGCCTCACTGGGCACCTCTCCCTTCAATGATCCAGGTTCCCAGCCCCAACCTCAGCACCTCCCCCAGGATCCATAGGGACAGGAAGTTGCTAAAAATACCCCCAAACTCAGGTGGACGAGGCTCCACCAGAAACGTGATCTGGAGAGCAGTCCCACAGCCACAGGACAGGTGGCACTGGGGGCACATCCCTAGGATGCAGTTGGGGCTCGCTCAATGTTGGTCCAACCCTGTGAACCCAGAGACTTATGGGAGATACCCTTCCATCCCCAAACTTCCTCACCCTAGTGGGAAGGAAGCCTTTCCAACCAAGGCTTGTAACAGGGACACCTTGTTTCCCTGAGTCTTCCAGGGTAGTCCTTTGACCTCACTTGAGAGAAGACACAGAGTAGGCACTCAAAAATGCTTAATATTCCCTGCCCCTAAAAGGCAACCATCTTGAAGAGATTAAGAGCATGGCCACTGGAGATCCAGACTGTCAGCTCTACCTCCTACTAGTGATGTGACCGTGGGCAAGTTGCTTAACCTCTCTGTGCCTTAGTTTCCTGCCAAATAGGGATAATAATGGCACTCTTCACAGGGACGTTGAAGGGATTTAATGATTCAGTTATCTGTAAAATCCTGAGAACAGTGCCTGGCACATAGTAAACACTGTGTAAGTTTTGTGAAATAAATTTCGAGGGCCAGTGTAACTTCCTGAAGTTGCTGAGAGACTCTGGGCAAAGGGCTGCCCTCTCTGAGCCTCAGCACTCTCTTTGAACAAAGAGGAGTTGGGCTGTCCGTGGTTTTCAGACTCTAGGAGCCAACCCTCCCTTCAACACAATCTTATCCAGAATGTCCCAGTATCTAACCCACTGCTCTGGCCAATGCTGGAATGGGAACCTGAAGTGATGAGCCCCAAGACACCTGCTTAGAATATCTGAGGCTCCTGAGAGCACAGTGTCAGTGCCTATGGAGGAGAGAGTGACCCTGTGGGATGTCCCAGCTCTCGGGATAAAGGCTGGTGTGTGTGTGTGTGAGGGGGTGAGGGGAGCTTGAATGAAGGTCAGCATCCTGGGGGTGGTGGAGAAGAGCCAGACCTGGGCCCTCAGGTACTCACGGTCATCAGCGTGGACAATCTGGAAGTTCCTGACTGAGGCCTGGGTGACCCGGCCTTGGAAGTTGAGGGTGTAGGAGCCACTGTCATCGTTCCAGACAGGTGGCTTGTTGTGCAGTTCTATGAGGCTCTCCAGCGTCTTGTTCTGCCAGCGCACCAGCAGGCCGTCACTAGCCTGGGGTGCCCCAGGGGAGTAGACAGGGAGAGGACAGTTAGAGATGGCTGAGATGGCTCAGGACTGACCGGAGAAGGGGCCTGGGCATGTGTGCACAGGGGTGTGGCCTGGACATCTTCATCCATTAGGGTATCTGAGAATAGGCTTGGCATCTGTGGCATCCTTGTGGACAGGGTTCACATCTGTGAGAATGGGGCTTTGTCTCTGGGATGTCAAAGCGGAGGGCTGGAAAATGGCAAGGGGCATCTGGCACATAGGCGCTCCATGCCATTGGTACCCAGGTGGTCTTAGGAGACAGACACACACCAGTACCTAATGACAGGATGAGCCAATCTTGGACCTGCAAAGGGCACACAGTTGAGCTGGGGAGATGGATAGGTAAATTGCAGTTAAGAGAAAGTGTACTTGGAGGAGAGTTTCTGAAAGGAAGGAGCAGGGTCTGTATAATGTGCCCTTAAGATCTTTCTTTCTTGAGTTTCCTTGTCGCCTGCTCACGTTCATGGATTAGAGTGAGTCCACTCAAGATCACCTCCAAGAAGCCTTCCTGACCCCCCATCTGATTTAGATGTCTCAGCTCTGAGTTTCCATGACACCTTGCTCTTACCATTCCTCCCACTGCACTGTAATTGGCAAAAGAGAGACCCGAAACAGCACCAGGCATTTCTTACTGGGCCCAAACAAGGGCAGGAGATGCTGCCTCTGGGGGATTTGTGTGTTTATTCCAGGCATAGGAAGGACAACTGTGGGGCCCACAGGCTGAGTGAACCCTCAAGACTGAGCCTCCCATGACTGGTGCCCTGCAGATCAGCCTGGGCCGTGACTTTCCAGCAGGGAAGGATGTGTGATCAGCTGACGGGGTATTATCTTTCATTGTAAATGAGTAAAATGACATCAGTCTCCTGTGAGGATGGGGCATGCGAGTCACCCAGAGTCTCTTAAATCCTGGACTCACTGGACCTGCAGTGCTAAAGAGCAGAGCACGGGACTGACACGTCTCTCCAGAACATCTCTCCATCTTAAACTCACACACACACACACGCAAAACAACTTTTGCTTTTTAAAATACAAGTCATGCCAAGCACAGTGGCTCACGCATATAATCCCAACACTTTGAGAAGCCGAGACGAGAGGATCACTTCAGGAATTTAAGACCAGCCTGGGCAACAAAGTGAGACCCTGGCTCTACAAAAAACTAGCCAGGTATGGTGGCATGTGCCTAGGGTCTCAGCTACATGAGAGGCTGAGGCAGGAAGCAGCACTGTTTGAAGCCAGGAGGTCGAGGCTGCAGTAAGTCATGATCATACCACTGTACTCTAGCCTGGGCTGGAGTGAGACCCAGAGTGAGACTCGGTCTCAGAAAAAAAAAAAAAAAAAAAAGGCTGGGCACAGTGGCTCAGGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGTGGGTCACTTGAGGTCAGGAGTTCAAGACCAACCTGGCCATCATGGCAAAACCGCGTCTCTACTGAAAATACAAAAATTAGCTGAGCATGGTGGTATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTG
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Task1_train_10217
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The gene TULP1 (TUB like protein 1), on Chromosome 6, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Leber congenital amaurosis 15
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CTCGGAGCCCTAGCGCGGTCCCGGGGAGAGGGGAGGTTAAAACAACAATGACTACTGCTCCCGGACAGGAAGTGACTGGGGCGCGGGGAGGAGGGGGGCACAGCGGCGCAGGCGAGCTCCGAGACCAGATGTGCGGCTCCAACTCCAGATGTTCTTCATCTCCGTCCTACCCGCCGTCCGGGCTCCTCCTGCCTCGGCCTGTGCCAGGCTGGGGAGAGGACGGAGGTCACCGAGAGGCAGTGAGAGGTCAGCCCCGACACAGGAGCAGTTTTCCGCGGGAGCTTTGCTGGAGGGACCCTGCCAGCCTCCACTGAATCCTTTCCCCCACGCTGACGGGCTCTGGGGGCGCTGAGGGGCTGCTGGGGTCACTCGCAGGCCAGCTTCCCGTCGAAACTGGAGAGGGCGATGGCGAAGGCCTGCAGGGCGCACAGCGGGTACCGGTAGTCTAGGGTGAAGGCGTCCTCCGCCACGCGGCCGAACTGCAGCACGATATAGTCGGCTATGGACACAAGACGGGGTGGGGGCGGCCCGAGACCTCCTTGGACCCCCATCCTGGCAGACAGTGCCCTCAACCTTGGGGGCAGTCTGTCCCTTGCCTTGGGGCTCCAACCCTCAGCCACCATCTCAGTTACTCAACACCCATCCCTTCTTCTATCTCACTCCACACCAGCACCACGTGGCTTTGCAGTCACACTATAATCTCCTGGGGGCAGGGACCTTGCCTTTCTGCTGCTGCCACAGGCCATGCCTAGAGCCCGCACCTGATTAACTATAGGACCCTGTCAAATTTATCCAAGCCCAGCATTCTTCCTTCCCAAATTCTCTGTTGTTTCTGGCCACAGTCTTTCCTCCTATCCCCAGCCACGAAGTCCCACCTTAGACCCCAGCTCCACCCCTTGACTAGCCCCTGGTTCCCTTCCTCAGCCTCACTGGGCACCTCTCCCTTCAATGATCCAGGTTCCCAGCCCCAACCTCAGCACCTCCCCCAGGATCCATAGGGACAGGAAGTTGCTAAAAATACCCCCAAACTCAGGTGGACGAGGCTCCACCAGAAACGTGATCTGGAGAGCAGTCCCACAGCCACAGGACAGGTGGCACTGGGGGCACATCCCTAGGATGCAGTTGGGGCTCGCTCAATGTTGGTCCAACCCTGTGAACCCAGAGACTTATGGGAGATACCCTTCCATCCCCAAACTTCCTCACCCTAGTGGGAAGGAAGCCTTTCCAACCAAGGCTTGTAACAGGGACACCTTGTTTCCCTGAGTCTTCCAGGGTAGTCCTTTGACCTCACTTGAGAGAAGACACAGAGTAGGCACTCAAAAATGCTTAATATTCCCTGCCCCTAAAAGGCAACCATCTTGAAGAGATTAAGAGCATGGCCACTGGAGATCCAGACTGTCAGCTCTACCTCCTACTAGTGATGTGACCGTGGGCAAGTTGCTTAACCTCTCTGTGCCTTAGTTTCCTGCCAAATAGGGATAATAATGGCACTCTTCACAGGGACGTTGAAGGGATTTAATGATTCAGTTATCTGTAAAATCCTGAGAACAGTGCCTGGCACATAGTAAACACTGTGTAAGTTTTGTGAAATAAATTTCGAGGGCCAGTGTAACTTCCTGAAGTTGCTGAGAGACTCTGGGCAAAGGGCTGCCCTCTCTGAGCCTCAGCACTCTCTTTGAACAAAGAGGAGTTGGGCTGTCCGTGGTTTTCAGACTCTAGGAGCCAACCCTCCCTTCAACACAATCTTATCCAGAATGTCCCAGTATCTAACCCACTGCTCTGGCCAATGCTGGAATGGGAACCTGAAGTGATGAGCCCCAAGACACCTGCTTAGAATATCTGAGGCTCCTGAGAGCACAGTGTCAGTGCCTATGGAGGAGAGAGTGACCCTGTGGGATGTCCCAGCTCTCGGGATAAAGGCTGGTGTGTGTGTGTGTGAGGGGGTGAGGGGAGCTTGAATGAAGGTCAGCATCCTGGGGGTGGTGGAGAAGAGCCAGACCTGGGCCCTCAGGTACTCACGGTCATCAGCGTGGACAATCTGGAAGTTCTTGACTGAGGCCTGGGTGACCCGGCCTTGGAAGTTGAGGGTGTAGGAGCCACTGTCATCGTTCCAGACAGGTGGCTTGTTGTGCAGTTCTATGAGGCTCTCCAGCGTCTTGTTCTGCCAGCGCACCAGCAGGCCGTCACTAGCCTGGGGTGCCCCAGGGGAGTAGACAGGGAGAGGACAGTTAGAGATGGCTGAGATGGCTCAGGACTGACCGGAGAAGGGGCCTGGGCATGTGTGCACAGGGGTGTGGCCTGGACATCTTCATCCATTAGGGTATCTGAGAATAGGCTTGGCATCTGTGGCATCCTTGTGGACAGGGTTCACATCTGTGAGAATGGGGCTTTGTCTCTGGGATGTCAAAGCGGAGGGCTGGAAAATGGCAAGGGGCATCTGGCACATAGGCGCTCCATGCCATTGGTACCCAGGTGGTCTTAGGAGACAGACACACACCAGTACCTAATGACAGGATGAGCCAATCTTGGACCTGCAAAGGGCACACAGTTGAGCTGGGGAGATGGATAGGTAAATTGCAGTTAAGAGAAAGTGTACTTGGAGGAGAGTTTCTGAAAGGAAGGAGCAGGGTCTGTATAATGTGCCCTTAAGATCTTTCTTTCTTGAGTTTCCTTGTCGCCTGCTCACGTTCATGGATTAGAGTGAGTCCACTCAAGATCACCTCCAAGAAGCCTTCCTGACCCCCCATCTGATTTAGATGTCTCAGCTCTGAGTTTCCATGACACCTTGCTCTTACCATTCCTCCCACTGCACTGTAATTGGCAAAAGAGAGACCCGAAACAGCACCAGGCATTTCTTACTGGGCCCAAACAAGGGCAGGAGATGCTGCCTCTGGGGGATTTGTGTGTTTATTCCAGGCATAGGAAGGACAACTGTGGGGCCCACAGGCTGAGTGAACCCTCAAGACTGAGCCTCCCATGACTGGTGCCCTGCAGATCAGCCTGGGCCGTGACTTTCCAGCAGGGAAGGATGTGTGATCAGCTGACGGGGTATTATCTTTCATTGTAAATGAGTAAAATGACATCAGTCTCCTGTGAGGATGGGGCATGCGAGTCACCCAGAGTCTCTTAAATCCTGGACTCACTGGACCTGCAGTGCTAAAGAGCAGAGCACGGGACTGACACGTCTCTCCAGAACATCTCTCCATCTTAAACTCACACACACACACACGCAAAACAACTTTTGCTTTTTAAAATACAAGTCATGCCAAGCACAGTGGCTCACGCATATAATCCCAACACTTTGAGAAGCCGAGACGAGAGGATCACTTCAGGAATTTAAGACCAGCCTGGGCAACAAAGTGAGACCCTGGCTCTACAAAAAACTAGCCAGGTATGGTGGCATGTGCCTAGGGTCTCAGCTACATGAGAGGCTGAGGCAGGAAGCAGCACTGTTTGAAGCCAGGAGGTCGAGGCTGCAGTAAGTCATGATCATACCACTGTACTCTAGCCTGGGCTGGAGTGAGACCCAGAGTGAGACTCGGTCTCAGAAAAAAAAAAAAAAAAAAAAGGCTGGGCACAGTGGCTCAGGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGTGGGTCACTTGAGGTCAGGAGTTCAAGACCAACCTGGCCATCATGGCAAAACCGCGTCTCTACTGAAAATACAAAAATTAGCTGAGCATGGTGGTATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTG
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CTCGGAGCCCTAGCGCGGTCCCGGGGAGAGGGGAGGTTAAAACAACAATGACTACTGCTCCCGGACAGGAAGTGACTGGGGCGCGGGGAGGAGGGGGGCACAGCGGCGCAGGCGAGCTCCGAGACCAGATGTGCGGCTCCAACTCCAGATGTTCTTCATCTCCGTCCTACCCGCCGTCCGGGCTCCTCCTGCCTCGGCCTGTGCCAGGCTGGGGAGAGGACGGAGGTCACCGAGAGGCAGTGAGAGGTCAGCCCCGACACAGGAGCAGTTTTCCGCGGGAGCTTTGCTGGAGGGACCCTGCCAGCCTCCACTGAATCCTTTCCCCCACGCTGACGGGCTCTGGGGGCGCTGAGGGGCTGCTGGGGTCACTCGCAGGCCAGCTTCCCGTCGAAACTGGAGAGGGCGATGGCGAAGGCCTGCAGGGCGCACAGCGGGTACCGGTAGTCTAGGGTGAAGGCGTCCTCCGCCACGCGGCCGAACTGCAGCACGATATAGTCGGCTATGGACACAAGACGGGGTGGGGGCGGCCCGAGACCTCCTTGGACCCCCATCCTGGCAGACAGTGCCCTCAACCTTGGGGGCAGTCTGTCCCTTGCCTTGGGGCTCCAACCCTCAGCCACCATCTCAGTTACTCAACACCCATCCCTTCTTCTATCTCACTCCACACCAGCACCACGTGGCTTTGCAGTCACACTATAATCTCCTGGGGGCAGGGACCTTGCCTTTCTGCTGCTGCCACAGGCCATGCCTAGAGCCCGCACCTGATTAACTATAGGACCCTGTCAAATTTATCCAAGCCCAGCATTCTTCCTTCCCAAATTCTCTGTTGTTTCTGGCCACAGTCTTTCCTCCTATCCCCAGCCACGAAGTCCCACCTTAGACCCCAGCTCCACCCCTTGACTAGCCCCTGGTTCCCTTCCTCAGCCTCACTGGGCACCTCTCCCTTCAATGATCCAGGTTCCCAGCCCCAACCTCAGCACCTCCCCCAGGATCCATAGGGACAGGAAGTTGCTAAAAATACCCCCAAACTCAGGTGGACGAGGCTCCACCAGAAACGTGATCTGGAGAGCAGTCCCACAGCCACAGGACAGGTGGCACTGGGGGCACATCCCTAGGATGCAGTTGGGGCTCGCTCAATGTTGGTCCAACCCTGTGAACCCAGAGACTTATGGGAGATACCCTTCCATCCCCAAACTTCCTCACCCTAGTGGGAAGGAAGCCTTTCCAACCAAGGCTTGTAACAGGGACACCTTGTTTCCCTGAGTCTTCCAGGGTAGTCCTTTGACCTCACTTGAGAGAAGACACAGAGTAGGCACTCAAAAATGCTTAATATTCCCTGCCCCTAAAAGGCAACCATCTTGAAGAGATTAAGAGCATGGCCACTGGAGATCCAGACTGTCAGCTCTACCTCCTACTAGTGATGTGACCGTGGGCAAGTTGCTTAACCTCTCTGTGCCTTAGTTTCCTGCCAAATAGGGATAATAATGGCACTCTTCACAGGGACGTTGAAGGGATTTAATGATTCAGTTATCTGTAAAATCCTGAGAACAGTGCCTGGCACATAGTAAACACTGTGTAAGTTTTGTGAAATAAATTTCGAGGGCCAGTGTAACTTCCTGAAGTTGCTGAGAGACTCTGGGCAAAGGGCTGCCCTCTCTGAGCCTCAGCACTCTCTTTGAACAAAGAGGAGTTGGGCTGTCCGTGGTTTTCAGACTCTAGGAGCCAACCCTCCCTTCAACACAATCTTATCCAGAATGTCCCAGTATCTAACCCACTGCTCTGGCCAATGCTGGAATGGGAACCTGAAGTGATGAGCCCCAAGACACCTGCTTAGAATATCTGAGGCTCCTGAGAGCACAGTGTCAGTGCCTATGGAGGAGAGAGTGACCCTGTGGGATGTCCCAGCTCTCGGGATAAAGGCTGGTGTGTGTGTGTGTGAGGGGGTGAGGGGAGCTTGAATGAAGGTCAGCATCCTGGGGGTGGTGGAGAAGAGCCAGACCTGGGCCCTCAGGTACTCACGGTCATCAGCGTGGACAATCTGGAAGTTCCTGACTGAGGCCTGGGTGACCCGGCCTTGGAAGTTGAGGGTGTAGGAGCCACTGTCATCGTTCCAGACAGGTGGCTTGTTGTGCAGTTCTATGAGGCTCTCCAGCGTCTTGTTCTGCCAGCGCACCAGCAGGCCGTCACTAGCCTGGGGTGCCCCAGGGGAGTAGACAGGGAGAGGACAGTTAGAGATGGCTGAGATGGCTCAGGACTGACCGGAGAAGGGGCCTGGGCATGTGTGCACAGGGGTGTGGCCTGGACATCTTCATCCATTAGGGTATCTGAGAATAGGCTTGGCATCTGTGGCATCCTTGTGGACAGGGTTCACATCTGTGAGAATGGGGCTTTGTCTCTGGGATGTCAAAGCGGAGGGCTGGAAAATGGCAAGGGGCATCTGGCACATAGGCGCTCCATGCCATTGGTACCCAGGTGGTCTTAGGAGACAGACACACACCAGTACCTAATGACAGGATGAGCCAATCTTGGACCTGCAAAGGGCACACAGTTGAGCTGGGGAGATGGATAGGTAAATTGCAGTTAAGAGAAAGTGTACTTGGAGGAGAGTTTCTGAAAGGAAGGAGCAGGGTCTGTATAATGTGCCCTTAAGATCTTTCTTTCTTGAGTTTCCTTGTCGCCTGCTCACGTTCATGGATTAGAGTGAGTCCACTCAAGATCACCTCCAAGAAGCCTTCCTGACCCCCCATCTGATTTAGATGTCTCAGCTCTGAGTTTCCATGACACCTTGCTCTTACCATTCCTCCCACTGCACTGTAATTGGCAAAAGAGAGACCCGAAACAGCACCAGGCATTTCTTACTGGGCCCAAACAAGGGCAGGAGATGCTGCCTCTGGGGGATTTGTGTGTTTATTCCAGGCATAGGAAGGACAACTGTGGGGCCCACAGGCTGAGTGAACCCTCAAGACTGAGCCTCCCATGACTGGTGCCCTGCAGATCAGCCTGGGCCGTGACTTTCCAGCAGGGAAGGATGTGTGATCAGCTGACGGGGTATTATCTTTCATTGTAAATGAGTAAAATGACATCAGTCTCCTGTGAGGATGGGGCATGCGAGTCACCCAGAGTCTCTTAAATCCTGGACTCACTGGACCTGCAGTGCTAAAGAGCAGAGCACGGGACTGACACGTCTCTCCAGAACATCTCTCCATCTTAAACTCACACACACACACACGCAAAACAACTTTTGCTTTTTAAAATACAAGTCATGCCAAGCACAGTGGCTCACGCATATAATCCCAACACTTTGAGAAGCCGAGACGAGAGGATCACTTCAGGAATTTAAGACCAGCCTGGGCAACAAAGTGAGACCCTGGCTCTACAAAAAACTAGCCAGGTATGGTGGCATGTGCCTAGGGTCTCAGCTACATGAGAGGCTGAGGCAGGAAGCAGCACTGTTTGAAGCCAGGAGGTCGAGGCTGCAGTAAGTCATGATCATACCACTGTACTCTAGCCTGGGCTGGAGTGAGACCCAGAGTGAGACTCGGTCTCAGAAAAAAAAAAAAAAAAAAAAGGCTGGGCACAGTGGCTCAGGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGTGGGTCACTTGAGGTCAGGAGTTCAAGACCAACCTGGCCATCATGGCAAAACCGCGTCTCTACTGAAAATACAAAAATTAGCTGAGCATGGTGGTATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTG
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Task1_train_10218
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Consider a variant on Chromosome 6 in gene TULP1 (TUB like protein 1). Determine its clinical classification and disease relevance.
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Pathogenic; Retinitis pigmentosa 14
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CGGGGAGAGGGGAGGTTAAAACAACAATGACTACTGCTCCCGGACAGGAAGTGACTGGGGCGCGGGGAGGAGGGGGGCACAGCGGCGCAGGCGAGCTCCGAGACCAGATGTGCGGCTCCAACTCCAGATGTTCTTCATCTCCGTCCTACCCGCCGTCCGGGCTCCTCCTGCCTCGGCCTGTGCCAGGCTGGGGAGAGGACGGAGGTCACCGAGAGGCAGTGAGAGGTCAGCCCCGACACAGGAGCAGTTTTCCGCGGGAGCTTTGCTGGAGGGACCCTGCCAGCCTCCACTGAATCCTTTCCCCCACGCTGACGGGCTCTGGGGGCGCTGAGGGGCTGCTGGGGTCACTCGCAGGCCAGCTTCCCGTCGAAACTGGAGAGGGCGATGGCGAAGGCCTGCAGGGCGCACAGCGGGTACCGGTAGTCTAGGGTGAAGGCGTCCTCCGCCACGCGGCCGAACTGCAGCACGATATAGTCGGCTATGGACACAAGACGGGGTGGGGGCGGCCCGAGACCTCCTTGGACCCCCATCCTGGCAGACAGTGCCCTCAACCTTGGGGGCAGTCTGTCCCTTGCCTTGGGGCTCCAACCCTCAGCCACCATCTCAGTTACTCAACACCCATCCCTTCTTCTATCTCACTCCACACCAGCACCACGTGGCTTTGCAGTCACACTATAATCTCCTGGGGGCAGGGACCTTGCCTTTCTGCTGCTGCCACAGGCCATGCCTAGAGCCCGCACCTGATTAACTATAGGACCCTGTCAAATTTATCCAAGCCCAGCATTCTTCCTTCCCAAATTCTCTGTTGTTTCTGGCCACAGTCTTTCCTCCTATCCCCAGCCACGAAGTCCCACCTTAGACCCCAGCTCCACCCCTTGACTAGCCCCTGGTTCCCTTCCTCAGCCTCACTGGGCACCTCTCCCTTCAATGATCCAGGTTCCCAGCCCCAACCTCAGCACCTCCCCCAGGATCCATAGGGACAGGAAGTTGCTAAAAATACCCCCAAACTCAGGTGGACGAGGCTCCACCAGAAACGTGATCTGGAGAGCAGTCCCACAGCCACAGGACAGGTGGCACTGGGGGCACATCCCTAGGATGCAGTTGGGGCTCGCTCAATGTTGGTCCAACCCTGTGAACCCAGAGACTTATGGGAGATACCCTTCCATCCCCAAACTTCCTCACCCTAGTGGGAAGGAAGCCTTTCCAACCAAGGCTTGTAACAGGGACACCTTGTTTCCCTGAGTCTTCCAGGGTAGTCCTTTGACCTCACTTGAGAGAAGACACAGAGTAGGCACTCAAAAATGCTTAATATTCCCTGCCCCTAAAAGGCAACCATCTTGAAGAGATTAAGAGCATGGCCACTGGAGATCCAGACTGTCAGCTCTACCTCCTACTAGTGATGTGACCGTGGGCAAGTTGCTTAACCTCTCTGTGCCTTAGTTTCCTGCCAAATAGGGATAATAATGGCACTCTTCACAGGGACGTTGAAGGGATTTAATGATTCAGTTATCTGTAAAATCCTGAGAACAGTGCCTGGCACATAGTAAACACTGTGTAAGTTTTGTGAAATAAATTTCGAGGGCCAGTGTAACTTCCTGAAGTTGCTGAGAGACTCTGGGCAAAGGGCTGCCCTCTCTGAGCCTCAGCACTCTCTTTGAACAAAGAGGAGTTGGGCTGTCCGTGGTTTTCAGACTCTAGGAGCCAACCCTCCCTTCAACACAATCTTATCCAGAATGTCCCAGTATCTAACCCACTGCTCTGGCCAATGCTGGAATGGGAACCTGAAGTGATGAGCCCCAAGACACCTGCTTAGAATATCTGAGGCTCCTGAGAGCACAGTGTCAGTGCCTATGGAGGAGAGAGTGACCCTGTGGGATGTCCCAGCTCTCGGGATAAAGGCTGGTGTGTGTGTGTGTGAGGGGGTGAGGGGAGCTTGAATGAAGGTCAGCATCCTGGGGGTGGTGGAGAAGAGCCAGACCTGGGCCCTCAGGTACTCACGGTCATCAGCGTGGACAATCTGGAAGTTCTTGACTGAGGCCTGGGTGACCCGGCCTTGGAAGTTGAGGGTGTAGGAGCCACTGTCATCGTTCCAGACAGGTGGCTTGTTGTGCAGTTCTATGAGGCTCTCCAGCGTCTTGTTCTGCCAGCGCACCAGCAGGCCGTCACTAGCCTGGGGTGCCCCAGGGGAGTAGACAGGGAGAGGACAGTTAGAGATGGCTGAGATGGCTCAGGACTGACCGGAGAAGGGGCCTGGGCATGTGTGCACAGGGGTGTGGCCTGGACATCTTCATCCATTAGGGTATCTGAGAATAGGCTTGGCATCTGTGGCATCCTTGTGGACAGGGTTCACATCTGTGAGAATGGGGCTTTGTCTCTGGGATGTCAAAGCGGAGGGCTGGAAAATGGCAAGGGGCATCTGGCACATAGGCGCTCCATGCCATTGGTACCCAGGTGGTCTTAGGAGACAGACACACACCAGTACCTAATGACAGGATGAGCCAATCTTGGACCTGCAAAGGGCACACAGTTGAGCTGGGGAGATGGATAGGTAAATTGCAGTTAAGAGAAAGTGTACTTGGAGGAGAGTTTCTGAAAGGAAGGAGCAGGGTCTGTATAATGTGCCCTTAAGATCTTTCTTTCTTGAGTTTCCTTGTCGCCTGCTCACGTTCATGGATTAGAGTGAGTCCACTCAAGATCACCTCCAAGAAGCCTTCCTGACCCCCCATCTGATTTAGATGTCTCAGCTCTGAGTTTCCATGACACCTTGCTCTTACCATTCCTCCCACTGCACTGTAATTGGCAAAAGAGAGACCCGAAACAGCACCAGGCATTTCTTACTGGGCCCAAACAAGGGCAGGAGATGCTGCCTCTGGGGGATTTGTGTGTTTATTCCAGGCATAGGAAGGACAACTGTGGGGCCCACAGGCTGAGTGAACCCTCAAGACTGAGCCTCCCATGACTGGTGCCCTGCAGATCAGCCTGGGCCGTGACTTTCCAGCAGGGAAGGATGTGTGATCAGCTGACGGGGTATTATCTTTCATTGTAAATGAGTAAAATGACATCAGTCTCCTGTGAGGATGGGGCATGCGAGTCACCCAGAGTCTCTTAAATCCTGGACTCACTGGACCTGCAGTGCTAAAGAGCAGAGCACGGGACTGACACGTCTCTCCAGAACATCTCTCCATCTTAAACTCACACACACACACACGCAAAACAACTTTTGCTTTTTAAAATACAAGTCATGCCAAGCACAGTGGCTCACGCATATAATCCCAACACTTTGAGAAGCCGAGACGAGAGGATCACTTCAGGAATTTAAGACCAGCCTGGGCAACAAAGTGAGACCCTGGCTCTACAAAAAACTAGCCAGGTATGGTGGCATGTGCCTAGGGTCTCAGCTACATGAGAGGCTGAGGCAGGAAGCAGCACTGTTTGAAGCCAGGAGGTCGAGGCTGCAGTAAGTCATGATCATACCACTGTACTCTAGCCTGGGCTGGAGTGAGACCCAGAGTGAGACTCGGTCTCAGAAAAAAAAAAAAAAAAAAAAGGCTGGGCACAGTGGCTCAGGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGTGGGTCACTTGAGGTCAGGAGTTCAAGACCAACCTGGCCATCATGGCAAAACCGCGTCTCTACTGAAAATACAAAAATTAGCTGAGCATGGTGGTATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTC
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CGGGGAGAGGGGAGGTTAAAACAACAATGACTACTGCTCCCGGACAGGAAGTGACTGGGGCGCGGGGAGGAGGGGGGCACAGCGGCGCAGGCGAGCTCCGAGACCAGATGTGCGGCTCCAACTCCAGATGTTCTTCATCTCCGTCCTACCCGCCGTCCGGGCTCCTCCTGCCTCGGCCTGTGCCAGGCTGGGGAGAGGACGGAGGTCACCGAGAGGCAGTGAGAGGTCAGCCCCGACACAGGAGCAGTTTTCCGCGGGAGCTTTGCTGGAGGGACCCTGCCAGCCTCCACTGAATCCTTTCCCCCACGCTGACGGGCTCTGGGGGCGCTGAGGGGCTGCTGGGGTCACTCGCAGGCCAGCTTCCCGTCGAAACTGGAGAGGGCGATGGCGAAGGCCTGCAGGGCGCACAGCGGGTACCGGTAGTCTAGGGTGAAGGCGTCCTCCGCCACGCGGCCGAACTGCAGCACGATATAGTCGGCTATGGACACAAGACGGGGTGGGGGCGGCCCGAGACCTCCTTGGACCCCCATCCTGGCAGACAGTGCCCTCAACCTTGGGGGCAGTCTGTCCCTTGCCTTGGGGCTCCAACCCTCAGCCACCATCTCAGTTACTCAACACCCATCCCTTCTTCTATCTCACTCCACACCAGCACCACGTGGCTTTGCAGTCACACTATAATCTCCTGGGGGCAGGGACCTTGCCTTTCTGCTGCTGCCACAGGCCATGCCTAGAGCCCGCACCTGATTAACTATAGGACCCTGTCAAATTTATCCAAGCCCAGCATTCTTCCTTCCCAAATTCTCTGTTGTTTCTGGCCACAGTCTTTCCTCCTATCCCCAGCCACGAAGTCCCACCTTAGACCCCAGCTCCACCCCTTGACTAGCCCCTGGTTCCCTTCCTCAGCCTCACTGGGCACCTCTCCCTTCAATGATCCAGGTTCCCAGCCCCAACCTCAGCACCTCCCCCAGGATCCATAGGGACAGGAAGTTGCTAAAAATACCCCCAAACTCAGGTGGACGAGGCTCCACCAGAAACGTGATCTGGAGAGCAGTCCCACAGCCACAGGACAGGTGGCACTGGGGGCACATCCCTAGGATGCAGTTGGGGCTCGCTCAATGTTGGTCCAACCCTGTGAACCCAGAGACTTATGGGAGATACCCTTCCATCCCCAAACTTCCTCACCCTAGTGGGAAGGAAGCCTTTCCAACCAAGGCTTGTAACAGGGACACCTTGTTTCCCTGAGTCTTCCAGGGTAGTCCTTTGACCTCACTTGAGAGAAGACACAGAGTAGGCACTCAAAAATGCTTAATATTCCCTGCCCCTAAAAGGCAACCATCTTGAAGAGATTAAGAGCATGGCCACTGGAGATCCAGACTGTCAGCTCTACCTCCTACTAGTGATGTGACCGTGGGCAAGTTGCTTAACCTCTCTGTGCCTTAGTTTCCTGCCAAATAGGGATAATAATGGCACTCTTCACAGGGACGTTGAAGGGATTTAATGATTCAGTTATCTGTAAAATCCTGAGAACAGTGCCTGGCACATAGTAAACACTGTGTAAGTTTTGTGAAATAAATTTCGAGGGCCAGTGTAACTTCCTGAAGTTGCTGAGAGACTCTGGGCAAAGGGCTGCCCTCTCTGAGCCTCAGCACTCTCTTTGAACAAAGAGGAGTTGGGCTGTCCGTGGTTTTCAGACTCTAGGAGCCAACCCTCCCTTCAACACAATCTTATCCAGAATGTCCCAGTATCTAACCCACTGCTCTGGCCAATGCTGGAATGGGAACCTGAAGTGATGAGCCCCAAGACACCTGCTTAGAATATCTGAGGCTCCTGAGAGCACAGTGTCAGTGCCTATGGAGGAGAGAGTGACCCTGTGGGATGTCCCAGCTCTCGGGATAAAGGCTGGTGTGTGTGTGTGTGAGGGGGTGAGGGGAGCTTGAATGAAGGTCAGCATCCTGGGGGTGGTGGAGAAGAGCCAGACCTGGGCCCTCAGGTACTCACGGTCATCAGCGTGGACAATCTGGAAGTTCTTGACTGAGGCCTGGGTGACCTGGCCTTGGAAGTTGAGGGTGTAGGAGCCACTGTCATCGTTCCAGACAGGTGGCTTGTTGTGCAGTTCTATGAGGCTCTCCAGCGTCTTGTTCTGCCAGCGCACCAGCAGGCCGTCACTAGCCTGGGGTGCCCCAGGGGAGTAGACAGGGAGAGGACAGTTAGAGATGGCTGAGATGGCTCAGGACTGACCGGAGAAGGGGCCTGGGCATGTGTGCACAGGGGTGTGGCCTGGACATCTTCATCCATTAGGGTATCTGAGAATAGGCTTGGCATCTGTGGCATCCTTGTGGACAGGGTTCACATCTGTGAGAATGGGGCTTTGTCTCTGGGATGTCAAAGCGGAGGGCTGGAAAATGGCAAGGGGCATCTGGCACATAGGCGCTCCATGCCATTGGTACCCAGGTGGTCTTAGGAGACAGACACACACCAGTACCTAATGACAGGATGAGCCAATCTTGGACCTGCAAAGGGCACACAGTTGAGCTGGGGAGATGGATAGGTAAATTGCAGTTAAGAGAAAGTGTACTTGGAGGAGAGTTTCTGAAAGGAAGGAGCAGGGTCTGTATAATGTGCCCTTAAGATCTTTCTTTCTTGAGTTTCCTTGTCGCCTGCTCACGTTCATGGATTAGAGTGAGTCCACTCAAGATCACCTCCAAGAAGCCTTCCTGACCCCCCATCTGATTTAGATGTCTCAGCTCTGAGTTTCCATGACACCTTGCTCTTACCATTCCTCCCACTGCACTGTAATTGGCAAAAGAGAGACCCGAAACAGCACCAGGCATTTCTTACTGGGCCCAAACAAGGGCAGGAGATGCTGCCTCTGGGGGATTTGTGTGTTTATTCCAGGCATAGGAAGGACAACTGTGGGGCCCACAGGCTGAGTGAACCCTCAAGACTGAGCCTCCCATGACTGGTGCCCTGCAGATCAGCCTGGGCCGTGACTTTCCAGCAGGGAAGGATGTGTGATCAGCTGACGGGGTATTATCTTTCATTGTAAATGAGTAAAATGACATCAGTCTCCTGTGAGGATGGGGCATGCGAGTCACCCAGAGTCTCTTAAATCCTGGACTCACTGGACCTGCAGTGCTAAAGAGCAGAGCACGGGACTGACACGTCTCTCCAGAACATCTCTCCATCTTAAACTCACACACACACACACGCAAAACAACTTTTGCTTTTTAAAATACAAGTCATGCCAAGCACAGTGGCTCACGCATATAATCCCAACACTTTGAGAAGCCGAGACGAGAGGATCACTTCAGGAATTTAAGACCAGCCTGGGCAACAAAGTGAGACCCTGGCTCTACAAAAAACTAGCCAGGTATGGTGGCATGTGCCTAGGGTCTCAGCTACATGAGAGGCTGAGGCAGGAAGCAGCACTGTTTGAAGCCAGGAGGTCGAGGCTGCAGTAAGTCATGATCATACCACTGTACTCTAGCCTGGGCTGGAGTGAGACCCAGAGTGAGACTCGGTCTCAGAAAAAAAAAAAAAAAAAAAAGGCTGGGCACAGTGGCTCAGGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGTGGGTCACTTGAGGTCAGGAGTTCAAGACCAACCTGGCCATCATGGCAAAACCGCGTCTCTACTGAAAATACAAAAATTAGCTGAGCATGGTGGTATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTC
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Task1_train_10219
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Assess the clinical impact of this variant on gene TULP1 (TUB like protein 1), found on Chromosome 6. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Retinitis pigmentosa
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TGGGCACAGTGGCTCAGGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGTGGGTCACTTGAGGTCAGGAGTTCAAGACCAACCTGGCCATCATGGCAAAACCGCGTCTCTACTGAAAATACAAAAATTAGCTGAGCATGGTGGTATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTCTCATTGAGGTCTGCTTTGACAACCATATTTAATATTGAGACTTACACACTTATTATCTACCTTCCCCTGTTTGACTTTTTTCTTTTTAAATTTTTTCTTTTTATTTTTTATTATTTATTTATTTATTTATTTTGAGATGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGTGATTCTCTTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCCTGTCACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGACGGGATTTTACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCAGCTTGGCCTCCCAAAATGCTGGGGTCACAAGCGTGAGCCACCATGGCTGGCAACATTTTTTTTTTAATTTTTGAGACAGAGTGTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGCCTCACTGCAACCTCTGCTTCCCGGGTTCAAGCAATACTCCCTGCGTCAGCCTCCTGAGTAAACAGGTGAGATTACAGTTGCCCACTGCCACGCCCGGCTAATTTTTGTATATTTAGTAGAGACGGGGTTTAGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCACCTTGTCCTCCCAAAGTGCTGGGGATACAGGTGTGAGCCACTGCACCTGGTCTGACATTTTTCACCATAGCACTTACCACCTTCCAGTATGCTCCATAATTTACTTATTTATCACGATTATTGTCTACTGTCACTCTCCTCCCACTAGAATGCCAGCTTCAGGGGGGCAGAGCTTTGGTTTTTTTGTTTTGTTTTGTTTTGTTTTTTATGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTTACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGGGTGCAGATCTTTGTTTTGTCCACTGATGTCTTCCAGGTGCCTAGGATAATACTTGGCACTCAATATGTGTGGTCAATGAAGATATGAATGGATGTAATATATGAATTTGATGTAAACTCCAAAAACAACCAAAAAGCCCATTGTGGTTTTTCAGTGAATTCAATTACAAAAAGCCCAAGTCCATTCCCTAGGTGGCCAGAATGAATTTGTGTTGGAGGGTGATGGATGTGCTCAGGGAGTTGGCTATTTCCTAAGCTGAGCCCCGACTCCTGTTTCTCACATAGGGAGCCAGGGGCCAGGGAGGTGCGGGGCTCACATTTCGGGGCCGGATGGGGACCCTCTCGTTCTCCGCACTCATGCCAGGAATGATGACGGTCATGCGCCGGGGGCCACGGAAGCCCAGCACGTTGGTTTCCTGGGAAGGAAACAGATGCCTGTGAGGCCAGCCCCTGTAAGGGGAGCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGT
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TGGGCACAGTGGCTCAGGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGTGGGTCACTTGAGGTCAGGAGTTCAAGACCAACCTGGCCATCATGGCAAAACCGCGTCTCTACTGAAAATACAAAAATTAGCTGAGCATGGTGGTATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTCTCATTGAGGTCTGCTTTGACAACCATATTTAATATTGAGACTTACACACTTATTATCTACCTTCCCCTGTTTGACTTTTTTCTTTTTAAATTTTTTCTTTTTATTTTTTATTATTTATTTATTTATTTATTTTGAGATGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGTGATTCTCTTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCCTGTCACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGACGGGATTTTACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCAGCTTGGCCTCCCAAAATGCTGGGGTCACAAGCGTGAGCCACCATGGCTGGCAACATTTTTTTTTTAATTTTTGAGACAGAGTGTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGCCTCACTGCAACCTCTGCTTCCCGGGTTCAAGCAATACTCCCTGCGTCAGCCTCCTGAGTAAACAGGTGAGATTACAGTTGCCCACTGCCACGCCCGGCTAATTTTTGTATATTTAGTAGAGACGGGGTTTAGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCACCTTGTCCTCCCAAAGTGCTGGGGATACAGGTGTGAGCCACTGCACCTGGTCTGACATTTTTCACCATAGCACTTACCACCTTCCAGTATGCTCCATAATTTACTTATTTATCACGATTATTGTCTACTGTCACTCTCCTCCCACTAGAATGCCAGCTTCAGGGGGGCAGAGCTTTGGTTTTTTTGTTTTGTTTTGTTTTGTTTTTTATGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTTACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGGGTGCAGATCTTTGTTTTGTCCACTGATGTCTTCCAGGTGCCTAGGATAATACTTGGCACTCAATATGTGTGGTCAATGAAGATATGAATGGATGTAATATATGAATTTGATGTAAACTCCAAAAACAACCAAAAAGCCCATTGTGGTTTTTCAGTGAATTCAATTACAAAAAGCCCAAGTCCATTCCCTAGGTGGCCAGAATGAATTTGTGTTGGAGGGTGATGGATGTGCTCAGGGAGTTGGCTATTTCCTAAGCTGAGCCCCGACTCCTGTTTCTCACATAGGGAGCCAGGGGCCAGGGAGGTGCGGGGCTCACATTTCGGGGCCGGATGGGGACCTTCTCGTTCTCCGCACTCATGCCAGGAATGATGACGGTCATGCGCCGGGGGCCACGGAAGCCCAGCACGTTGGTTTCCTGGGAAGGAAACAGATGCCTGTGAGGCCAGCCCCTGTAAGGGGAGCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGT
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Task1_train_10220
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A variant was discovered in gene TULP1 (TUB like protein 1), Chromosome 6. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; not provided
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GCTGAGGCAGGTGGGTCACTTGAGGTCAGGAGTTCAAGACCAACCTGGCCATCATGGCAAAACCGCGTCTCTACTGAAAATACAAAAATTAGCTGAGCATGGTGGTATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTCTCATTGAGGTCTGCTTTGACAACCATATTTAATATTGAGACTTACACACTTATTATCTACCTTCCCCTGTTTGACTTTTTTCTTTTTAAATTTTTTCTTTTTATTTTTTATTATTTATTTATTTATTTATTTTGAGATGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGTGATTCTCTTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCCTGTCACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGACGGGATTTTACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCAGCTTGGCCTCCCAAAATGCTGGGGTCACAAGCGTGAGCCACCATGGCTGGCAACATTTTTTTTTTAATTTTTGAGACAGAGTGTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGCCTCACTGCAACCTCTGCTTCCCGGGTTCAAGCAATACTCCCTGCGTCAGCCTCCTGAGTAAACAGGTGAGATTACAGTTGCCCACTGCCACGCCCGGCTAATTTTTGTATATTTAGTAGAGACGGGGTTTAGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCACCTTGTCCTCCCAAAGTGCTGGGGATACAGGTGTGAGCCACTGCACCTGGTCTGACATTTTTCACCATAGCACTTACCACCTTCCAGTATGCTCCATAATTTACTTATTTATCACGATTATTGTCTACTGTCACTCTCCTCCCACTAGAATGCCAGCTTCAGGGGGGCAGAGCTTTGGTTTTTTTGTTTTGTTTTGTTTTGTTTTTTATGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTTACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGGGTGCAGATCTTTGTTTTGTCCACTGATGTCTTCCAGGTGCCTAGGATAATACTTGGCACTCAATATGTGTGGTCAATGAAGATATGAATGGATGTAATATATGAATTTGATGTAAACTCCAAAAACAACCAAAAAGCCCATTGTGGTTTTTCAGTGAATTCAATTACAAAAAGCCCAAGTCCATTCCCTAGGTGGCCAGAATGAATTTGTGTTGGAGGGTGATGGATGTGCTCAGGGAGTTGGCTATTTCCTAAGCTGAGCCCCGACTCCTGTTTCTCACATAGGGAGCCAGGGGCCAGGGAGGTGCGGGGCTCACATTTCGGGGCCGGATGGGGACCCTCTCGTTCTCCGCACTCATGCCAGGAATGATGACGGTCATGCGCCGGGGGCCACGGAAGCCCAGCACGTTGGTTTCCTGGGAAGGAAACAGATGCCTGTGAGGCCAGCCCCTGTAAGGGGAGCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGC
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GCTGAGGCAGGTGGGTCACTTGAGGTCAGGAGTTCAAGACCAACCTGGCCATCATGGCAAAACCGCGTCTCTACTGAAAATACAAAAATTAGCTGAGCATGGTGGTATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTCTCATTGAGGTCTGCTTTGACAACCATATTTAATATTGAGACTTACACACTTATTATCTACCTTCCCCTGTTTGACTTTTTTCTTTTTAAATTTTTTCTTTTTATTTTTTATTATTTATTTATTTATTTATTTTGAGATGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGTGATTCTCTTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCCTGTCACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGACGGGATTTTACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCAGCTTGGCCTCCCAAAATGCTGGGGTCACAAGCGTGAGCCACCATGGCTGGCAACATTTTTTTTTTAATTTTTGAGACAGAGTGTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGCCTCACTGCAACCTCTGCTTCCCGGGTTCAAGCAATACTCCCTGCGTCAGCCTCCTGAGTAAACAGGTGAGATTACAGTTGCCCACTGCCACGCCCGGCTAATTTTTGTATATTTAGTAGAGACGGGGTTTAGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCACCTTGTCCTCCCAAAGTGCTGGGGATACAGGTGTGAGCCACTGCACCTGGTCTGACATTTTTCACCATAGCACTTACCACCTTCCAGTATGCTCCATAATTTACTTATTTATCACGATTATTGTCTACTGTCACTCTCCTCCCACTAGAATGCCAGCTTCAGGGGGGCAGAGCTTTGGTTTTTTTGTTTTGTTTTGTTTTGTTTTTTATGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTTACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGGGTGCAGATCTTTGTTTTGTCCACTGATGTCTTCCAGGTGCCTAGGATAATACTTGGCACTCAATATGTGTGGTCAATGAAGATATGAATGGATGTAATATATGAATTTGATGTAAACTCCAAAAACAACCAAAAAGCCCATTGTGGTTTTTCAGTGAATTCAATTACAAAAAGCCCAAGTCCATTCCCTAGGTGGCCAGAATGAATTTGTGTTGGAGGGTGATGGATGTGCTCAGGGAGTTGGCTATTTCCTAAGCTGAGCCCCGACTCCTGTTTCTCACATAGGGAGCCAGGGGCCAGGGAGGTGCGGGGCTCACATTTCGGGGCCGGATGGGGACCCTCTCGTTCTCCGCACTCATGCCAGGAATGATGACGGTCATGGGCCGGGGGCCACGGAAGCCCAGCACGTTGGTTTCCTGGGAAGGAAACAGATGCCTGTGAGGCCAGCCCCTGTAAGGGGAGCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGC
|
Task1_train_10221
|
A genetic alteration is present in TULP1 (TUB like protein 1) on Chromosome 6. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; Retinal dystrophy
|
AGGCAGGTGGGTCACTTGAGGTCAGGAGTTCAAGACCAACCTGGCCATCATGGCAAAACCGCGTCTCTACTGAAAATACAAAAATTAGCTGAGCATGGTGGTATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTCTCATTGAGGTCTGCTTTGACAACCATATTTAATATTGAGACTTACACACTTATTATCTACCTTCCCCTGTTTGACTTTTTTCTTTTTAAATTTTTTCTTTTTATTTTTTATTATTTATTTATTTATTTATTTTGAGATGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGTGATTCTCTTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCCTGTCACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGACGGGATTTTACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCAGCTTGGCCTCCCAAAATGCTGGGGTCACAAGCGTGAGCCACCATGGCTGGCAACATTTTTTTTTTAATTTTTGAGACAGAGTGTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGCCTCACTGCAACCTCTGCTTCCCGGGTTCAAGCAATACTCCCTGCGTCAGCCTCCTGAGTAAACAGGTGAGATTACAGTTGCCCACTGCCACGCCCGGCTAATTTTTGTATATTTAGTAGAGACGGGGTTTAGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCACCTTGTCCTCCCAAAGTGCTGGGGATACAGGTGTGAGCCACTGCACCTGGTCTGACATTTTTCACCATAGCACTTACCACCTTCCAGTATGCTCCATAATTTACTTATTTATCACGATTATTGTCTACTGTCACTCTCCTCCCACTAGAATGCCAGCTTCAGGGGGGCAGAGCTTTGGTTTTTTTGTTTTGTTTTGTTTTGTTTTTTATGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTTACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGGGTGCAGATCTTTGTTTTGTCCACTGATGTCTTCCAGGTGCCTAGGATAATACTTGGCACTCAATATGTGTGGTCAATGAAGATATGAATGGATGTAATATATGAATTTGATGTAAACTCCAAAAACAACCAAAAAGCCCATTGTGGTTTTTCAGTGAATTCAATTACAAAAAGCCCAAGTCCATTCCCTAGGTGGCCAGAATGAATTTGTGTTGGAGGGTGATGGATGTGCTCAGGGAGTTGGCTATTTCCTAAGCTGAGCCCCGACTCCTGTTTCTCACATAGGGAGCCAGGGGCCAGGGAGGTGCGGGGCTCACATTTCGGGGCCGGATGGGGACCCTCTCGTTCTCCGCACTCATGCCAGGAATGATGACGGTCATGCGCCGGGGGCCACGGAAGCCCAGCACGTTGGTTTCCTGGGAAGGAAACAGATGCCTGTGAGGCCAGCCCCTGTAAGGGGAGCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGA
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AGGCAGGTGGGTCACTTGAGGTCAGGAGTTCAAGACCAACCTGGCCATCATGGCAAAACCGCGTCTCTACTGAAAATACAAAAATTAGCTGAGCATGGTGGTATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTCTCATTGAGGTCTGCTTTGACAACCATATTTAATATTGAGACTTACACACTTATTATCTACCTTCCCCTGTTTGACTTTTTTCTTTTTAAATTTTTTCTTTTTATTTTTTATTATTTATTTATTTATTTATTTTGAGATGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGTGATTCTCTTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCCTGTCACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGACGGGATTTTACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCAGCTTGGCCTCCCAAAATGCTGGGGTCACAAGCGTGAGCCACCATGGCTGGCAACATTTTTTTTTTAATTTTTGAGACAGAGTGTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGCCTCACTGCAACCTCTGCTTCCCGGGTTCAAGCAATACTCCCTGCGTCAGCCTCCTGAGTAAACAGGTGAGATTACAGTTGCCCACTGCCACGCCCGGCTAATTTTTGTATATTTAGTAGAGACGGGGTTTAGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCACCTTGTCCTCCCAAAGTGCTGGGGATACAGGTGTGAGCCACTGCACCTGGTCTGACATTTTTCACCATAGCACTTACCACCTTCCAGTATGCTCCATAATTTACTTATTTATCACGATTATTGTCTACTGTCACTCTCCTCCCACTAGAATGCCAGCTTCAGGGGGGCAGAGCTTTGGTTTTTTTGTTTTGTTTTGTTTTGTTTTTTATGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTTACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGGGTGCAGATCTTTGTTTTGTCCACTGATGTCTTCCAGGTGCCTAGGATAATACTTGGCACTCAATATGTGTGGTCAATGAAGATATGAATGGATGTAATATATGAATTTGATGTAAACTCCAAAAACAACCAAAAAGCCCATTGTGGTTTTTCAGTGAATTCAATTACAAAAAGCCCAAGTCCATTCCCTAGGTGGCCAGAATGAATTTGTGTTGGAGGGTGATGGATGTGCTCAGGGAGTTGGCTATTTCCTAAGCTGAGCCCCGACTCCTGTTTCTCACATAGGGAGCCAGGGGCCAGGGAGGTGCGGGGCTCACATTTCGGGGCCGGATGGGGACCCTCTCGTTCTCCGCACTCATGCCAGGAATGATGACGGTCATGCGCCAGGGGCCACGGAAGCCCAGCACGTTGGTTTCCTGGGAAGGAAACAGATGCCTGTGAGGCCAGCCCCTGTAAGGGGAGCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGA
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Task1_train_10222
|
Gene TULP1 (TUB like protein 1), found on Chromosome 6, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; Retinitis pigmentosa 14
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AGGCAGGTGGGTCACTTGAGGTCAGGAGTTCAAGACCAACCTGGCCATCATGGCAAAACCGCGTCTCTACTGAAAATACAAAAATTAGCTGAGCATGGTGGTATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTCTCATTGAGGTCTGCTTTGACAACCATATTTAATATTGAGACTTACACACTTATTATCTACCTTCCCCTGTTTGACTTTTTTCTTTTTAAATTTTTTCTTTTTATTTTTTATTATTTATTTATTTATTTATTTTGAGATGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGTGATTCTCTTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCCTGTCACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGACGGGATTTTACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCAGCTTGGCCTCCCAAAATGCTGGGGTCACAAGCGTGAGCCACCATGGCTGGCAACATTTTTTTTTTAATTTTTGAGACAGAGTGTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGCCTCACTGCAACCTCTGCTTCCCGGGTTCAAGCAATACTCCCTGCGTCAGCCTCCTGAGTAAACAGGTGAGATTACAGTTGCCCACTGCCACGCCCGGCTAATTTTTGTATATTTAGTAGAGACGGGGTTTAGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCACCTTGTCCTCCCAAAGTGCTGGGGATACAGGTGTGAGCCACTGCACCTGGTCTGACATTTTTCACCATAGCACTTACCACCTTCCAGTATGCTCCATAATTTACTTATTTATCACGATTATTGTCTACTGTCACTCTCCTCCCACTAGAATGCCAGCTTCAGGGGGGCAGAGCTTTGGTTTTTTTGTTTTGTTTTGTTTTGTTTTTTATGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTTACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGGGTGCAGATCTTTGTTTTGTCCACTGATGTCTTCCAGGTGCCTAGGATAATACTTGGCACTCAATATGTGTGGTCAATGAAGATATGAATGGATGTAATATATGAATTTGATGTAAACTCCAAAAACAACCAAAAAGCCCATTGTGGTTTTTCAGTGAATTCAATTACAAAAAGCCCAAGTCCATTCCCTAGGTGGCCAGAATGAATTTGTGTTGGAGGGTGATGGATGTGCTCAGGGAGTTGGCTATTTCCTAAGCTGAGCCCCGACTCCTGTTTCTCACATAGGGAGCCAGGGGCCAGGGAGGTGCGGGGCTCACATTTCGGGGCCGGATGGGGACCCTCTCGTTCTCCGCACTCATGCCAGGAATGATGACGGTCATGCGCCGGGGGCCACGGAAGCCCAGCACGTTGGTTTCCTGGGAAGGAAACAGATGCCTGTGAGGCCAGCCCCTGTAAGGGGAGCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGA
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AGGCAGGTGGGTCACTTGAGGTCAGGAGTTCAAGACCAACCTGGCCATCATGGCAAAACCGCGTCTCTACTGAAAATACAAAAATTAGCTGAGCATGGTGGTATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTCTCATTGAGGTCTGCTTTGACAACCATATTTAATATTGAGACTTACACACTTATTATCTACCTTCCCCTGTTTGACTTTTTTCTTTTTAAATTTTTTCTTTTTATTTTTTATTATTTATTTATTTATTTATTTTGAGATGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGTGATTCTCTTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCCTGTCACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGACGGGATTTTACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCAGCTTGGCCTCCCAAAATGCTGGGGTCACAAGCGTGAGCCACCATGGCTGGCAACATTTTTTTTTTAATTTTTGAGACAGAGTGTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGCCTCACTGCAACCTCTGCTTCCCGGGTTCAAGCAATACTCCCTGCGTCAGCCTCCTGAGTAAACAGGTGAGATTACAGTTGCCCACTGCCACGCCCGGCTAATTTTTGTATATTTAGTAGAGACGGGGTTTAGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCACCTTGTCCTCCCAAAGTGCTGGGGATACAGGTGTGAGCCACTGCACCTGGTCTGACATTTTTCACCATAGCACTTACCACCTTCCAGTATGCTCCATAATTTACTTATTTATCACGATTATTGTCTACTGTCACTCTCCTCCCACTAGAATGCCAGCTTCAGGGGGGCAGAGCTTTGGTTTTTTTGTTTTGTTTTGTTTTGTTTTTTATGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTTACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGGGTGCAGATCTTTGTTTTGTCCACTGATGTCTTCCAGGTGCCTAGGATAATACTTGGCACTCAATATGTGTGGTCAATGAAGATATGAATGGATGTAATATATGAATTTGATGTAAACTCCAAAAACAACCAAAAAGCCCATTGTGGTTTTTCAGTGAATTCAATTACAAAAAGCCCAAGTCCATTCCCTAGGTGGCCAGAATGAATTTGTGTTGGAGGGTGATGGATGTGCTCAGGGAGTTGGCTATTTCCTAAGCTGAGCCCCGACTCCTGTTTCTCACATAGGGAGCCAGGGGCCAGGGAGGTGCGGGGCTCACATTTCGGGGCCGGATGGGGACCCTCTCGTTCTCCGCACTCATGCCAGGAATGATGACGGTCATGCGCCAGGGGCCACGGAAGCCCAGCACGTTGGTTTCCTGGGAAGGAAACAGATGCCTGTGAGGCCAGCCCCTGTAAGGGGAGCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGA
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Task1_train_10223
|
Given this variant in gene TULP1 (TUB like protein 1) on Chromosome 6, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Leber congenital amaurosis 15
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AGGCAGGTGGGTCACTTGAGGTCAGGAGTTCAAGACCAACCTGGCCATCATGGCAAAACCGCGTCTCTACTGAAAATACAAAAATTAGCTGAGCATGGTGGTATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTCTCATTGAGGTCTGCTTTGACAACCATATTTAATATTGAGACTTACACACTTATTATCTACCTTCCCCTGTTTGACTTTTTTCTTTTTAAATTTTTTCTTTTTATTTTTTATTATTTATTTATTTATTTATTTTGAGATGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGTGATTCTCTTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCCTGTCACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGACGGGATTTTACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCAGCTTGGCCTCCCAAAATGCTGGGGTCACAAGCGTGAGCCACCATGGCTGGCAACATTTTTTTTTTAATTTTTGAGACAGAGTGTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGCCTCACTGCAACCTCTGCTTCCCGGGTTCAAGCAATACTCCCTGCGTCAGCCTCCTGAGTAAACAGGTGAGATTACAGTTGCCCACTGCCACGCCCGGCTAATTTTTGTATATTTAGTAGAGACGGGGTTTAGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCACCTTGTCCTCCCAAAGTGCTGGGGATACAGGTGTGAGCCACTGCACCTGGTCTGACATTTTTCACCATAGCACTTACCACCTTCCAGTATGCTCCATAATTTACTTATTTATCACGATTATTGTCTACTGTCACTCTCCTCCCACTAGAATGCCAGCTTCAGGGGGGCAGAGCTTTGGTTTTTTTGTTTTGTTTTGTTTTGTTTTTTATGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTTACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGGGTGCAGATCTTTGTTTTGTCCACTGATGTCTTCCAGGTGCCTAGGATAATACTTGGCACTCAATATGTGTGGTCAATGAAGATATGAATGGATGTAATATATGAATTTGATGTAAACTCCAAAAACAACCAAAAAGCCCATTGTGGTTTTTCAGTGAATTCAATTACAAAAAGCCCAAGTCCATTCCCTAGGTGGCCAGAATGAATTTGTGTTGGAGGGTGATGGATGTGCTCAGGGAGTTGGCTATTTCCTAAGCTGAGCCCCGACTCCTGTTTCTCACATAGGGAGCCAGGGGCCAGGGAGGTGCGGGGCTCACATTTCGGGGCCGGATGGGGACCCTCTCGTTCTCCGCACTCATGCCAGGAATGATGACGGTCATGCGCCGGGGGCCACGGAAGCCCAGCACGTTGGTTTCCTGGGAAGGAAACAGATGCCTGTGAGGCCAGCCCCTGTAAGGGGAGCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGA
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AGGCAGGTGGGTCACTTGAGGTCAGGAGTTCAAGACCAACCTGGCCATCATGGCAAAACCGCGTCTCTACTGAAAATACAAAAATTAGCTGAGCATGGTGGTATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTCTCATTGAGGTCTGCTTTGACAACCATATTTAATATTGAGACTTACACACTTATTATCTACCTTCCCCTGTTTGACTTTTTTCTTTTTAAATTTTTTCTTTTTATTTTTTATTATTTATTTATTTATTTATTTTGAGATGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGTGATTCTCTTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCCTGTCACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGACGGGATTTTACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCAGCTTGGCCTCCCAAAATGCTGGGGTCACAAGCGTGAGCCACCATGGCTGGCAACATTTTTTTTTTAATTTTTGAGACAGAGTGTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGCCTCACTGCAACCTCTGCTTCCCGGGTTCAAGCAATACTCCCTGCGTCAGCCTCCTGAGTAAACAGGTGAGATTACAGTTGCCCACTGCCACGCCCGGCTAATTTTTGTATATTTAGTAGAGACGGGGTTTAGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCACCTTGTCCTCCCAAAGTGCTGGGGATACAGGTGTGAGCCACTGCACCTGGTCTGACATTTTTCACCATAGCACTTACCACCTTCCAGTATGCTCCATAATTTACTTATTTATCACGATTATTGTCTACTGTCACTCTCCTCCCACTAGAATGCCAGCTTCAGGGGGGCAGAGCTTTGGTTTTTTTGTTTTGTTTTGTTTTGTTTTTTATGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTTACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGGGTGCAGATCTTTGTTTTGTCCACTGATGTCTTCCAGGTGCCTAGGATAATACTTGGCACTCAATATGTGTGGTCAATGAAGATATGAATGGATGTAATATATGAATTTGATGTAAACTCCAAAAACAACCAAAAAGCCCATTGTGGTTTTTCAGTGAATTCAATTACAAAAAGCCCAAGTCCATTCCCTAGGTGGCCAGAATGAATTTGTGTTGGAGGGTGATGGATGTGCTCAGGGAGTTGGCTATTTCCTAAGCTGAGCCCCGACTCCTGTTTCTCACATAGGGAGCCAGGGGCCAGGGAGGTGCGGGGCTCACATTTCGGGGCCGGATGGGGACCCTCTCGTTCTCCGCACTCATGCCAGGAATGATGACGGTCATGCGCCAGGGGCCACGGAAGCCCAGCACGTTGGTTTCCTGGGAAGGAAACAGATGCCTGTGAGGCCAGCCCCTGTAAGGGGAGCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGA
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Task1_train_10224
|
Here is a mutation in TULP1 (TUB like protein 1) on Chromosome 6. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Leber congenital amaurosis
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AGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTCTCATTGAGGTCTGCTTTGACAACCATATTTAATATTGAGACTTACACACTTATTATCTACCTTCCCCTGTTTGACTTTTTTCTTTTTAAATTTTTTCTTTTTATTTTTTATTATTTATTTATTTATTTATTTTGAGATGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGTGATTCTCTTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCCTGTCACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGACGGGATTTTACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCAGCTTGGCCTCCCAAAATGCTGGGGTCACAAGCGTGAGCCACCATGGCTGGCAACATTTTTTTTTTAATTTTTGAGACAGAGTGTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGCCTCACTGCAACCTCTGCTTCCCGGGTTCAAGCAATACTCCCTGCGTCAGCCTCCTGAGTAAACAGGTGAGATTACAGTTGCCCACTGCCACGCCCGGCTAATTTTTGTATATTTAGTAGAGACGGGGTTTAGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCACCTTGTCCTCCCAAAGTGCTGGGGATACAGGTGTGAGCCACTGCACCTGGTCTGACATTTTTCACCATAGCACTTACCACCTTCCAGTATGCTCCATAATTTACTTATTTATCACGATTATTGTCTACTGTCACTCTCCTCCCACTAGAATGCCAGCTTCAGGGGGGCAGAGCTTTGGTTTTTTTGTTTTGTTTTGTTTTGTTTTTTATGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTTACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGGGTGCAGATCTTTGTTTTGTCCACTGATGTCTTCCAGGTGCCTAGGATAATACTTGGCACTCAATATGTGTGGTCAATGAAGATATGAATGGATGTAATATATGAATTTGATGTAAACTCCAAAAACAACCAAAAAGCCCATTGTGGTTTTTCAGTGAATTCAATTACAAAAAGCCCAAGTCCATTCCCTAGGTGGCCAGAATGAATTTGTGTTGGAGGGTGATGGATGTGCTCAGGGAGTTGGCTATTTCCTAAGCTGAGCCCCGACTCCTGTTTCTCACATAGGGAGCCAGGGGCCAGGGAGGTGCGGGGCTCACATTTCGGGGCCGGATGGGGACCCTCTCGTTCTCCGCACTCATGCCAGGAATGATGACGGTCATGCGCCGGGGGCCACGGAAGCCCAGCACGTTGGTTTCCTGGGAAGGAAACAGATGCCTGTGAGGCCAGCCCCTGTAAGGGGAGCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGACAGAGATGACGGGCTATGGCCTTTTGCTGACCCAAGTCCCCCCAGCCCCAGGAAGCCCAGCCCCACCTCAGCTTCCCGATGAAATTCTCCCCTCCTCGGGACAGATTGGTAGGGTCGATGGAGATGAGGTAATTG
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AGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTCTCATTGAGGTCTGCTTTGACAACCATATTTAATATTGAGACTTACACACTTATTATCTACCTTCCCCTGTTTGACTTTTTTCTTTTTAAATTTTTTCTTTTTATTTTTTATTATTTATTTATTTATTTATTTTGAGATGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGTGATTCTCTTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCCTGTCACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGACGGGATTTTACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCAGCTTGGCCTCCCAAAATGCTGGGGTCACAAGCGTGAGCCACCATGGCTGGCAACATTTTTTTTTTAATTTTTGAGACAGAGTGTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGCCTCACTGCAACCTCTGCTTCCCGGGTTCAAGCAATACTCCCTGCGTCAGCCTCCTGAGTAAACAGGTGAGATTACAGTTGCCCACTGCCACGCCCGGCTAATTTTTGTATATTTAGTAGAGACGGGGTTTAGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCACCTTGTCCTCCCAAAGTGCTGGGGATACAGGTGTGAGCCACTGCACCTGGTCTGACATTTTTCACCATAGCACTTACCACCTTCCAGTATGCTCCATAATTTACTTATTTATCACGATTATTGTCTACTGTCACTCTCCTCCCACTAGAATGCCAGCTTCAGGGGGGCAGAGCTTTGGTTTTTTTGTTTTGTTTTGTTTTGTTTTTTATGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTTACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGGGTGCAGATCTTTGTTTTGTCCACTGATGTCTTCCAGGTGCCTAGGATAATACTTGGCACTCAATATGTGTGGTCAATGAAGATATGAATGGATGTAATATATGAATTTGATGTAAACTCCAAAAACAACCAAAAAGCCCATTGTGGTTTTTCAGTGAATTCAATTACAAAAAGCCCAAGTCCATTCCCTAGGTGGCCAGAATGAATTTGTGTTGGAGGGTGATGGATGTGCTCAGGGAGTTGGCTATTTCCTAAGCTGAGCCCCGACTCCTGTTTCTCACATAGGGAGCCAGGGGCCAGGGAGGTGCGGGGCTCACATTTCGGGGCCGGATGGGGACCCTCTCGTTCTCCGCACTCATGCCAGGAATGATGACGGTCATGCGCCGGGGGCCACGGAAGCCCAGCACGTTGGTTTCCTGGGAAGGAAACAGATGCCTGTGAGGCCAGCCCCTGTAAGGGGAGCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCTGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGACAGAGATGACGGGCTATGGCCTTTTGCTGACCCAAGTCCCCCCAGCCCCAGGAAGCCCAGCCCCACCTCAGCTTCCCGATGAAATTCTCCCCTCCTCGGGACAGATTGGTAGGGTCGATGGAGATGAGGTAATTG
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Task1_train_10225
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Here is a mutation in TULP1 (TUB like protein 1) on Chromosome 6. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Retinitis pigmentosa 14
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AGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTCTCATTGAGGTCTGCTTTGACAACCATATTTAATATTGAGACTTACACACTTATTATCTACCTTCCCCTGTTTGACTTTTTTCTTTTTAAATTTTTTCTTTTTATTTTTTATTATTTATTTATTTATTTATTTTGAGATGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGTGATTCTCTTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCCTGTCACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGACGGGATTTTACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCAGCTTGGCCTCCCAAAATGCTGGGGTCACAAGCGTGAGCCACCATGGCTGGCAACATTTTTTTTTTAATTTTTGAGACAGAGTGTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGCCTCACTGCAACCTCTGCTTCCCGGGTTCAAGCAATACTCCCTGCGTCAGCCTCCTGAGTAAACAGGTGAGATTACAGTTGCCCACTGCCACGCCCGGCTAATTTTTGTATATTTAGTAGAGACGGGGTTTAGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCACCTTGTCCTCCCAAAGTGCTGGGGATACAGGTGTGAGCCACTGCACCTGGTCTGACATTTTTCACCATAGCACTTACCACCTTCCAGTATGCTCCATAATTTACTTATTTATCACGATTATTGTCTACTGTCACTCTCCTCCCACTAGAATGCCAGCTTCAGGGGGGCAGAGCTTTGGTTTTTTTGTTTTGTTTTGTTTTGTTTTTTATGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTTACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGGGTGCAGATCTTTGTTTTGTCCACTGATGTCTTCCAGGTGCCTAGGATAATACTTGGCACTCAATATGTGTGGTCAATGAAGATATGAATGGATGTAATATATGAATTTGATGTAAACTCCAAAAACAACCAAAAAGCCCATTGTGGTTTTTCAGTGAATTCAATTACAAAAAGCCCAAGTCCATTCCCTAGGTGGCCAGAATGAATTTGTGTTGGAGGGTGATGGATGTGCTCAGGGAGTTGGCTATTTCCTAAGCTGAGCCCCGACTCCTGTTTCTCACATAGGGAGCCAGGGGCCAGGGAGGTGCGGGGCTCACATTTCGGGGCCGGATGGGGACCCTCTCGTTCTCCGCACTCATGCCAGGAATGATGACGGTCATGCGCCGGGGGCCACGGAAGCCCAGCACGTTGGTTTCCTGGGAAGGAAACAGATGCCTGTGAGGCCAGCCCCTGTAAGGGGAGCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGACAGAGATGACGGGCTATGGCCTTTTGCTGACCCAAGTCCCCCCAGCCCCAGGAAGCCCAGCCCCACCTCAGCTTCCCGATGAAATTCTCCCCTCCTCGGGACAGATTGGTAGGGTCGATGGAGATGAGGTAATTG
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AGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTCTCATTGAGGTCTGCTTTGACAACCATATTTAATATTGAGACTTACACACTTATTATCTACCTTCCCCTGTTTGACTTTTTTCTTTTTAAATTTTTTCTTTTTATTTTTTATTATTTATTTATTTATTTATTTTGAGATGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGTGATTCTCTTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCCTGTCACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGACGGGATTTTACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCAGCTTGGCCTCCCAAAATGCTGGGGTCACAAGCGTGAGCCACCATGGCTGGCAACATTTTTTTTTTAATTTTTGAGACAGAGTGTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGCCTCACTGCAACCTCTGCTTCCCGGGTTCAAGCAATACTCCCTGCGTCAGCCTCCTGAGTAAACAGGTGAGATTACAGTTGCCCACTGCCACGCCCGGCTAATTTTTGTATATTTAGTAGAGACGGGGTTTAGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCACCTTGTCCTCCCAAAGTGCTGGGGATACAGGTGTGAGCCACTGCACCTGGTCTGACATTTTTCACCATAGCACTTACCACCTTCCAGTATGCTCCATAATTTACTTATTTATCACGATTATTGTCTACTGTCACTCTCCTCCCACTAGAATGCCAGCTTCAGGGGGGCAGAGCTTTGGTTTTTTTGTTTTGTTTTGTTTTGTTTTTTATGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTTACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGGGTGCAGATCTTTGTTTTGTCCACTGATGTCTTCCAGGTGCCTAGGATAATACTTGGCACTCAATATGTGTGGTCAATGAAGATATGAATGGATGTAATATATGAATTTGATGTAAACTCCAAAAACAACCAAAAAGCCCATTGTGGTTTTTCAGTGAATTCAATTACAAAAAGCCCAAGTCCATTCCCTAGGTGGCCAGAATGAATTTGTGTTGGAGGGTGATGGATGTGCTCAGGGAGTTGGCTATTTCCTAAGCTGAGCCCCGACTCCTGTTTCTCACATAGGGAGCCAGGGGCCAGGGAGGTGCGGGGCTCACATTTCGGGGCCGGATGGGGACCCTCTCGTTCTCCGCACTCATGCCAGGAATGATGACGGTCATGCGCCGGGGGCCACGGAAGCCCAGCACGTTGGTTTCCTGGGAAGGAAACAGATGCCTGTGAGGCCAGCCCCTGTAAGGGGAGCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCTGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGACAGAGATGACGGGCTATGGCCTTTTGCTGACCCAAGTCCCCCCAGCCCCAGGAAGCCCAGCCCCACCTCAGCTTCCCGATGAAATTCTCCCCTCCTCGGGACAGATTGGTAGGGTCGATGGAGATGAGGTAATTG
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Task1_train_10226
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A mutation in TULP1 (TUB like protein 1), located on Chromosome 6, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Retinitis pigmentosa 14
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AGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTCTCATTGAGGTCTGCTTTGACAACCATATTTAATATTGAGACTTACACACTTATTATCTACCTTCCCCTGTTTGACTTTTTTCTTTTTAAATTTTTTCTTTTTATTTTTTATTATTTATTTATTTATTTATTTTGAGATGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGTGATTCTCTTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCCTGTCACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGACGGGATTTTACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCAGCTTGGCCTCCCAAAATGCTGGGGTCACAAGCGTGAGCCACCATGGCTGGCAACATTTTTTTTTTAATTTTTGAGACAGAGTGTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGCCTCACTGCAACCTCTGCTTCCCGGGTTCAAGCAATACTCCCTGCGTCAGCCTCCTGAGTAAACAGGTGAGATTACAGTTGCCCACTGCCACGCCCGGCTAATTTTTGTATATTTAGTAGAGACGGGGTTTAGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCACCTTGTCCTCCCAAAGTGCTGGGGATACAGGTGTGAGCCACTGCACCTGGTCTGACATTTTTCACCATAGCACTTACCACCTTCCAGTATGCTCCATAATTTACTTATTTATCACGATTATTGTCTACTGTCACTCTCCTCCCACTAGAATGCCAGCTTCAGGGGGGCAGAGCTTTGGTTTTTTTGTTTTGTTTTGTTTTGTTTTTTATGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTTACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGGGTGCAGATCTTTGTTTTGTCCACTGATGTCTTCCAGGTGCCTAGGATAATACTTGGCACTCAATATGTGTGGTCAATGAAGATATGAATGGATGTAATATATGAATTTGATGTAAACTCCAAAAACAACCAAAAAGCCCATTGTGGTTTTTCAGTGAATTCAATTACAAAAAGCCCAAGTCCATTCCCTAGGTGGCCAGAATGAATTTGTGTTGGAGGGTGATGGATGTGCTCAGGGAGTTGGCTATTTCCTAAGCTGAGCCCCGACTCCTGTTTCTCACATAGGGAGCCAGGGGCCAGGGAGGTGCGGGGCTCACATTTCGGGGCCGGATGGGGACCCTCTCGTTCTCCGCACTCATGCCAGGAATGATGACGGTCATGCGCCGGGGGCCACGGAAGCCCAGCACGTTGGTTTCCTGGGAAGGAAACAGATGCCTGTGAGGCCAGCCCCTGTAAGGGGAGCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGACAGAGATGACGGGCTATGGCCTTTTGCTGACCCAAGTCCCCCCAGCCCCAGGAAGCCCAGCCCCACCTCAGCTTCCCGATGAAATTCTCCCCTCCTCGGGACAGATTGGTAGGGTCGATGGAGATGAGGTAATTG
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AGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTCTCATTGAGGTCTGCTTTGACAACCATATTTAATATTGAGACTTACACACTTATTATCTACCTTCCCCTGTTTGACTTTTTTCTTTTTAAATTTTTTCTTTTTATTTTTTATTATTTATTTATTTATTTATTTTGAGATGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGTGATTCTCTTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCCTGTCACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGACGGGATTTTACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCAGCTTGGCCTCCCAAAATGCTGGGGTCACAAGCGTGAGCCACCATGGCTGGCAACATTTTTTTTTTAATTTTTGAGACAGAGTGTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGCCTCACTGCAACCTCTGCTTCCCGGGTTCAAGCAATACTCCCTGCGTCAGCCTCCTGAGTAAACAGGTGAGATTACAGTTGCCCACTGCCACGCCCGGCTAATTTTTGTATATTTAGTAGAGACGGGGTTTAGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCACCTTGTCCTCCCAAAGTGCTGGGGATACAGGTGTGAGCCACTGCACCTGGTCTGACATTTTTCACCATAGCACTTACCACCTTCCAGTATGCTCCATAATTTACTTATTTATCACGATTATTGTCTACTGTCACTCTCCTCCCACTAGAATGCCAGCTTCAGGGGGGCAGAGCTTTGGTTTTTTTGTTTTGTTTTGTTTTGTTTTTTATGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTTACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGGGTGCAGATCTTTGTTTTGTCCACTGATGTCTTCCAGGTGCCTAGGATAATACTTGGCACTCAATATGTGTGGTCAATGAAGATATGAATGGATGTAATATATGAATTTGATGTAAACTCCAAAAACAACCAAAAAGCCCATTGTGGTTTTTCAGTGAATTCAATTACAAAAAGCCCAAGTCCATTCCCTAGGTGGCCAGAATGAATTTGTGTTGGAGGGTGATGGATGTGCTCAGGGAGTTGGCTATTTCCTAAGCTGAGCCCCGACTCCTGTTTCTCACATAGGGAGCCAGGGGCCAGGGAGGTGCGGGGCTCACATTTCGGGGCCGGATGGGGACCCTCTCGTTCTCCGCACTCATGCCAGGAATGATGACGGTCATGCGCCGGGGGCCACGGAAGCCCAGCACGTTGGTTTCCTGGGAAGGAAACAGATGCCTGTGAGGCCAGCCCCTGTAAGGGGAGCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCTGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGACAGAGATGACGGGCTATGGCCTTTTGCTGACCCAAGTCCCCCCAGCCCCAGGAAGCCCAGCCCCACCTCAGCTTCCCGATGAAATTCTCCCCTCCTCGGGACAGATTGGTAGGGTCGATGGAGATGAGGTAATTG
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Task1_train_10227
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Given this context: Chromosome 6, gene TULP1 (TUB like protein 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Leber congenital amaurosis 15
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AGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTCTCATTGAGGTCTGCTTTGACAACCATATTTAATATTGAGACTTACACACTTATTATCTACCTTCCCCTGTTTGACTTTTTTCTTTTTAAATTTTTTCTTTTTATTTTTTATTATTTATTTATTTATTTATTTTGAGATGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGTGATTCTCTTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCCTGTCACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGACGGGATTTTACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCAGCTTGGCCTCCCAAAATGCTGGGGTCACAAGCGTGAGCCACCATGGCTGGCAACATTTTTTTTTTAATTTTTGAGACAGAGTGTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGCCTCACTGCAACCTCTGCTTCCCGGGTTCAAGCAATACTCCCTGCGTCAGCCTCCTGAGTAAACAGGTGAGATTACAGTTGCCCACTGCCACGCCCGGCTAATTTTTGTATATTTAGTAGAGACGGGGTTTAGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCACCTTGTCCTCCCAAAGTGCTGGGGATACAGGTGTGAGCCACTGCACCTGGTCTGACATTTTTCACCATAGCACTTACCACCTTCCAGTATGCTCCATAATTTACTTATTTATCACGATTATTGTCTACTGTCACTCTCCTCCCACTAGAATGCCAGCTTCAGGGGGGCAGAGCTTTGGTTTTTTTGTTTTGTTTTGTTTTGTTTTTTATGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTTACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGGGTGCAGATCTTTGTTTTGTCCACTGATGTCTTCCAGGTGCCTAGGATAATACTTGGCACTCAATATGTGTGGTCAATGAAGATATGAATGGATGTAATATATGAATTTGATGTAAACTCCAAAAACAACCAAAAAGCCCATTGTGGTTTTTCAGTGAATTCAATTACAAAAAGCCCAAGTCCATTCCCTAGGTGGCCAGAATGAATTTGTGTTGGAGGGTGATGGATGTGCTCAGGGAGTTGGCTATTTCCTAAGCTGAGCCCCGACTCCTGTTTCTCACATAGGGAGCCAGGGGCCAGGGAGGTGCGGGGCTCACATTTCGGGGCCGGATGGGGACCCTCTCGTTCTCCGCACTCATGCCAGGAATGATGACGGTCATGCGCCGGGGGCCACGGAAGCCCAGCACGTTGGTTTCCTGGGAAGGAAACAGATGCCTGTGAGGCCAGCCCCTGTAAGGGGAGCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGACAGAGATGACGGGCTATGGCCTTTTGCTGACCCAAGTCCCCCCAGCCCCAGGAAGCCCAGCCCCACCTCAGCTTCCCGATGAAATTCTCCCCTCCTCGGGACAGATTGGTAGGGTCGATGGAGATGAGGTAATTG
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AGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTCTCATTGAGGTCTGCTTTGACAACCATATTTAATATTGAGACTTACACACTTATTATCTACCTTCCCCTGTTTGACTTTTTTCTTTTTAAATTTTTTCTTTTTATTTTTTATTATTTATTTATTTATTTATTTTGAGATGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGTGATTCTCTTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCCTGTCACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGACGGGATTTTACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCAGCTTGGCCTCCCAAAATGCTGGGGTCACAAGCGTGAGCCACCATGGCTGGCAACATTTTTTTTTTAATTTTTGAGACAGAGTGTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGCCTCACTGCAACCTCTGCTTCCCGGGTTCAAGCAATACTCCCTGCGTCAGCCTCCTGAGTAAACAGGTGAGATTACAGTTGCCCACTGCCACGCCCGGCTAATTTTTGTATATTTAGTAGAGACGGGGTTTAGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCACCTTGTCCTCCCAAAGTGCTGGGGATACAGGTGTGAGCCACTGCACCTGGTCTGACATTTTTCACCATAGCACTTACCACCTTCCAGTATGCTCCATAATTTACTTATTTATCACGATTATTGTCTACTGTCACTCTCCTCCCACTAGAATGCCAGCTTCAGGGGGGCAGAGCTTTGGTTTTTTTGTTTTGTTTTGTTTTGTTTTTTATGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTTACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGGGTGCAGATCTTTGTTTTGTCCACTGATGTCTTCCAGGTGCCTAGGATAATACTTGGCACTCAATATGTGTGGTCAATGAAGATATGAATGGATGTAATATATGAATTTGATGTAAACTCCAAAAACAACCAAAAAGCCCATTGTGGTTTTTCAGTGAATTCAATTACAAAAAGCCCAAGTCCATTCCCTAGGTGGCCAGAATGAATTTGTGTTGGAGGGTGATGGATGTGCTCAGGGAGTTGGCTATTTCCTAAGCTGAGCCCCGACTCCTGTTTCTCACATAGGGAGCCAGGGGCCAGGGAGGTGCGGGGCTCACATTTCGGGGCCGGATGGGGACCCTCTCGTTCTCCGCACTCATGCCAGGAATGATGACGGTCATGCGCCGGGGGCCACGGAAGCCCAGCACGTTGGTTTCCTGGGAAGGAAACAGATGCCTGTGAGGCCAGCCCCTGTAAGGGGAGCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCTGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGACAGAGATGACGGGCTATGGCCTTTTGCTGACCCAAGTCCCCCCAGCCCCAGGAAGCCCAGCCCCACCTCAGCTTCCCGATGAAATTCTCCCCTCCTCGGGACAGATTGGTAGGGTCGATGGAGATGAGGTAATTG
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Task1_train_10228
|
The gene TULP1 (TUB like protein 1), on Chromosome 6, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Retinal dystrophy
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GGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTCTCATTGAGGTCTGCTTTGACAACCATATTTAATATTGAGACTTACACACTTATTATCTACCTTCCCCTGTTTGACTTTTTTCTTTTTAAATTTTTTCTTTTTATTTTTTATTATTTATTTATTTATTTATTTTGAGATGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGTGATTCTCTTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCCTGTCACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGACGGGATTTTACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCAGCTTGGCCTCCCAAAATGCTGGGGTCACAAGCGTGAGCCACCATGGCTGGCAACATTTTTTTTTTAATTTTTGAGACAGAGTGTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGCCTCACTGCAACCTCTGCTTCCCGGGTTCAAGCAATACTCCCTGCGTCAGCCTCCTGAGTAAACAGGTGAGATTACAGTTGCCCACTGCCACGCCCGGCTAATTTTTGTATATTTAGTAGAGACGGGGTTTAGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCACCTTGTCCTCCCAAAGTGCTGGGGATACAGGTGTGAGCCACTGCACCTGGTCTGACATTTTTCACCATAGCACTTACCACCTTCCAGTATGCTCCATAATTTACTTATTTATCACGATTATTGTCTACTGTCACTCTCCTCCCACTAGAATGCCAGCTTCAGGGGGGCAGAGCTTTGGTTTTTTTGTTTTGTTTTGTTTTGTTTTTTATGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTTACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGGGTGCAGATCTTTGTTTTGTCCACTGATGTCTTCCAGGTGCCTAGGATAATACTTGGCACTCAATATGTGTGGTCAATGAAGATATGAATGGATGTAATATATGAATTTGATGTAAACTCCAAAAACAACCAAAAAGCCCATTGTGGTTTTTCAGTGAATTCAATTACAAAAAGCCCAAGTCCATTCCCTAGGTGGCCAGAATGAATTTGTGTTGGAGGGTGATGGATGTGCTCAGGGAGTTGGCTATTTCCTAAGCTGAGCCCCGACTCCTGTTTCTCACATAGGGAGCCAGGGGCCAGGGAGGTGCGGGGCTCACATTTCGGGGCCGGATGGGGACCCTCTCGTTCTCCGCACTCATGCCAGGAATGATGACGGTCATGCGCCGGGGGCCACGGAAGCCCAGCACGTTGGTTTCCTGGGAAGGAAACAGATGCCTGTGAGGCCAGCCCCTGTAAGGGGAGCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGACAGAGATGACGGGCTATGGCCTTTTGCTGACCCAAGTCCCCCCAGCCCCAGGAAGCCCAGCCCCACCTCAGCTTCCCGATGAAATTCTCCCCTCCTCGGGACAGATTGGTAGGGTCGATGGAGATGAGGTAATTGG
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GGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTCTCATTGAGGTCTGCTTTGACAACCATATTTAATATTGAGACTTACACACTTATTATCTACCTTCCCCTGTTTGACTTTTTTCTTTTTAAATTTTTTCTTTTTATTTTTTATTATTTATTTATTTATTTATTTTGAGATGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGTGATTCTCTTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCCTGTCACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGACGGGATTTTACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCAGCTTGGCCTCCCAAAATGCTGGGGTCACAAGCGTGAGCCACCATGGCTGGCAACATTTTTTTTTTAATTTTTGAGACAGAGTGTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGCCTCACTGCAACCTCTGCTTCCCGGGTTCAAGCAATACTCCCTGCGTCAGCCTCCTGAGTAAACAGGTGAGATTACAGTTGCCCACTGCCACGCCCGGCTAATTTTTGTATATTTAGTAGAGACGGGGTTTAGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCACCTTGTCCTCCCAAAGTGCTGGGGATACAGGTGTGAGCCACTGCACCTGGTCTGACATTTTTCACCATAGCACTTACCACCTTCCAGTATGCTCCATAATTTACTTATTTATCACGATTATTGTCTACTGTCACTCTCCTCCCACTAGAATGCCAGCTTCAGGGGGGCAGAGCTTTGGTTTTTTTGTTTTGTTTTGTTTTGTTTTTTATGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTTACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGGGTGCAGATCTTTGTTTTGTCCACTGATGTCTTCCAGGTGCCTAGGATAATACTTGGCACTCAATATGTGTGGTCAATGAAGATATGAATGGATGTAATATATGAATTTGATGTAAACTCCAAAAACAACCAAAAAGCCCATTGTGGTTTTTCAGTGAATTCAATTACAAAAAGCCCAAGTCCATTCCCTAGGTGGCCAGAATGAATTTGTGTTGGAGGGTGATGGATGTGCTCAGGGAGTTGGCTATTTCCTAAGCTGAGCCCCGACTCCTGTTTCTCACATAGGGAGCCAGGGGCCAGGGAGGTGCGGGGCTCACATTTCGGGGCCGGATGGGGACCCTCTCGTTCTCCGCACTCATGCCAGGAATGATGACGGTCATGCGCCGGGGGCCACGGAAGCCCAGCACGTTGGTTTCCTGGGAAGGAAACAGATGCCTGTGAGGCCAGCCCCTGTAAGGGGAGCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCAAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGACAGAGATGACGGGCTATGGCCTTTTGCTGACCCAAGTCCCCCCAGCCCCAGGAAGCCCAGCCCCACCTCAGCTTCCCGATGAAATTCTCCCCTCCTCGGGACAGATTGGTAGGGTCGATGGAGATGAGGTAATTGG
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Task1_train_10229
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Given this context: Chromosome 6, gene TULP1 (TUB like protein 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Brachydactyly
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GGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTCTCATTGAGGTCTGCTTTGACAACCATATTTAATATTGAGACTTACACACTTATTATCTACCTTCCCCTGTTTGACTTTTTTCTTTTTAAATTTTTTCTTTTTATTTTTTATTATTTATTTATTTATTTATTTTGAGATGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGTGATTCTCTTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCCTGTCACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGACGGGATTTTACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCAGCTTGGCCTCCCAAAATGCTGGGGTCACAAGCGTGAGCCACCATGGCTGGCAACATTTTTTTTTTAATTTTTGAGACAGAGTGTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGCCTCACTGCAACCTCTGCTTCCCGGGTTCAAGCAATACTCCCTGCGTCAGCCTCCTGAGTAAACAGGTGAGATTACAGTTGCCCACTGCCACGCCCGGCTAATTTTTGTATATTTAGTAGAGACGGGGTTTAGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCACCTTGTCCTCCCAAAGTGCTGGGGATACAGGTGTGAGCCACTGCACCTGGTCTGACATTTTTCACCATAGCACTTACCACCTTCCAGTATGCTCCATAATTTACTTATTTATCACGATTATTGTCTACTGTCACTCTCCTCCCACTAGAATGCCAGCTTCAGGGGGGCAGAGCTTTGGTTTTTTTGTTTTGTTTTGTTTTGTTTTTTATGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTTACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGGGTGCAGATCTTTGTTTTGTCCACTGATGTCTTCCAGGTGCCTAGGATAATACTTGGCACTCAATATGTGTGGTCAATGAAGATATGAATGGATGTAATATATGAATTTGATGTAAACTCCAAAAACAACCAAAAAGCCCATTGTGGTTTTTCAGTGAATTCAATTACAAAAAGCCCAAGTCCATTCCCTAGGTGGCCAGAATGAATTTGTGTTGGAGGGTGATGGATGTGCTCAGGGAGTTGGCTATTTCCTAAGCTGAGCCCCGACTCCTGTTTCTCACATAGGGAGCCAGGGGCCAGGGAGGTGCGGGGCTCACATTTCGGGGCCGGATGGGGACCCTCTCGTTCTCCGCACTCATGCCAGGAATGATGACGGTCATGCGCCGGGGGCCACGGAAGCCCAGCACGTTGGTTTCCTGGGAAGGAAACAGATGCCTGTGAGGCCAGCCCCTGTAAGGGGAGCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGACAGAGATGACGGGCTATGGCCTTTTGCTGACCCAAGTCCCCCCAGCCCCAGGAAGCCCAGCCCCACCTCAGCTTCCCGATGAAATTCTCCCCTCCTCGGGACAGATTGGTAGGGTCGATGGAGATGAGGTAATTGG
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GGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTCTCATTGAGGTCTGCTTTGACAACCATATTTAATATTGAGACTTACACACTTATTATCTACCTTCCCCTGTTTGACTTTTTTCTTTTTAAATTTTTTCTTTTTATTTTTTATTATTTATTTATTTATTTATTTTGAGATGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGTGATTCTCTTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCCTGTCACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGACGGGATTTTACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCAGCTTGGCCTCCCAAAATGCTGGGGTCACAAGCGTGAGCCACCATGGCTGGCAACATTTTTTTTTTAATTTTTGAGACAGAGTGTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGCCTCACTGCAACCTCTGCTTCCCGGGTTCAAGCAATACTCCCTGCGTCAGCCTCCTGAGTAAACAGGTGAGATTACAGTTGCCCACTGCCACGCCCGGCTAATTTTTGTATATTTAGTAGAGACGGGGTTTAGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCACCTTGTCCTCCCAAAGTGCTGGGGATACAGGTGTGAGCCACTGCACCTGGTCTGACATTTTTCACCATAGCACTTACCACCTTCCAGTATGCTCCATAATTTACTTATTTATCACGATTATTGTCTACTGTCACTCTCCTCCCACTAGAATGCCAGCTTCAGGGGGGCAGAGCTTTGGTTTTTTTGTTTTGTTTTGTTTTGTTTTTTATGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTTACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGGGTGCAGATCTTTGTTTTGTCCACTGATGTCTTCCAGGTGCCTAGGATAATACTTGGCACTCAATATGTGTGGTCAATGAAGATATGAATGGATGTAATATATGAATTTGATGTAAACTCCAAAAACAACCAAAAAGCCCATTGTGGTTTTTCAGTGAATTCAATTACAAAAAGCCCAAGTCCATTCCCTAGGTGGCCAGAATGAATTTGTGTTGGAGGGTGATGGATGTGCTCAGGGAGTTGGCTATTTCCTAAGCTGAGCCCCGACTCCTGTTTCTCACATAGGGAGCCAGGGGCCAGGGAGGTGCGGGGCTCACATTTCGGGGCCGGATGGGGACCCTCTCGTTCTCCGCACTCATGCCAGGAATGATGACGGTCATGCGCCGGGGGCCACGGAAGCCCAGCACGTTGGTTTCCTGGGAAGGAAACAGATGCCTGTGAGGCCAGCCCCTGTAAGGGGAGCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCAAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGACAGAGATGACGGGCTATGGCCTTTTGCTGACCCAAGTCCCCCCAGCCCCAGGAAGCCCAGCCCCACCTCAGCTTCCCGATGAAATTCTCCCCTCCTCGGGACAGATTGGTAGGGTCGATGGAGATGAGGTAATTGG
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Task1_train_10230
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A mutation on Chromosome 6 affecting TULP1 (TUB like protein 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Syndactyly
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GGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTCTCATTGAGGTCTGCTTTGACAACCATATTTAATATTGAGACTTACACACTTATTATCTACCTTCCCCTGTTTGACTTTTTTCTTTTTAAATTTTTTCTTTTTATTTTTTATTATTTATTTATTTATTTATTTTGAGATGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGTGATTCTCTTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCCTGTCACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGACGGGATTTTACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCAGCTTGGCCTCCCAAAATGCTGGGGTCACAAGCGTGAGCCACCATGGCTGGCAACATTTTTTTTTTAATTTTTGAGACAGAGTGTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGCCTCACTGCAACCTCTGCTTCCCGGGTTCAAGCAATACTCCCTGCGTCAGCCTCCTGAGTAAACAGGTGAGATTACAGTTGCCCACTGCCACGCCCGGCTAATTTTTGTATATTTAGTAGAGACGGGGTTTAGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCACCTTGTCCTCCCAAAGTGCTGGGGATACAGGTGTGAGCCACTGCACCTGGTCTGACATTTTTCACCATAGCACTTACCACCTTCCAGTATGCTCCATAATTTACTTATTTATCACGATTATTGTCTACTGTCACTCTCCTCCCACTAGAATGCCAGCTTCAGGGGGGCAGAGCTTTGGTTTTTTTGTTTTGTTTTGTTTTGTTTTTTATGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTTACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGGGTGCAGATCTTTGTTTTGTCCACTGATGTCTTCCAGGTGCCTAGGATAATACTTGGCACTCAATATGTGTGGTCAATGAAGATATGAATGGATGTAATATATGAATTTGATGTAAACTCCAAAAACAACCAAAAAGCCCATTGTGGTTTTTCAGTGAATTCAATTACAAAAAGCCCAAGTCCATTCCCTAGGTGGCCAGAATGAATTTGTGTTGGAGGGTGATGGATGTGCTCAGGGAGTTGGCTATTTCCTAAGCTGAGCCCCGACTCCTGTTTCTCACATAGGGAGCCAGGGGCCAGGGAGGTGCGGGGCTCACATTTCGGGGCCGGATGGGGACCCTCTCGTTCTCCGCACTCATGCCAGGAATGATGACGGTCATGCGCCGGGGGCCACGGAAGCCCAGCACGTTGGTTTCCTGGGAAGGAAACAGATGCCTGTGAGGCCAGCCCCTGTAAGGGGAGCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGACAGAGATGACGGGCTATGGCCTTTTGCTGACCCAAGTCCCCCCAGCCCCAGGAAGCCCAGCCCCACCTCAGCTTCCCGATGAAATTCTCCCCTCCTCGGGACAGATTGGTAGGGTCGATGGAGATGAGGTAATTGG
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GGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTCTCATTGAGGTCTGCTTTGACAACCATATTTAATATTGAGACTTACACACTTATTATCTACCTTCCCCTGTTTGACTTTTTTCTTTTTAAATTTTTTCTTTTTATTTTTTATTATTTATTTATTTATTTATTTTGAGATGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGTGATTCTCTTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCCTGTCACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGACGGGATTTTACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCAGCTTGGCCTCCCAAAATGCTGGGGTCACAAGCGTGAGCCACCATGGCTGGCAACATTTTTTTTTTAATTTTTGAGACAGAGTGTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGCCTCACTGCAACCTCTGCTTCCCGGGTTCAAGCAATACTCCCTGCGTCAGCCTCCTGAGTAAACAGGTGAGATTACAGTTGCCCACTGCCACGCCCGGCTAATTTTTGTATATTTAGTAGAGACGGGGTTTAGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCACCTTGTCCTCCCAAAGTGCTGGGGATACAGGTGTGAGCCACTGCACCTGGTCTGACATTTTTCACCATAGCACTTACCACCTTCCAGTATGCTCCATAATTTACTTATTTATCACGATTATTGTCTACTGTCACTCTCCTCCCACTAGAATGCCAGCTTCAGGGGGGCAGAGCTTTGGTTTTTTTGTTTTGTTTTGTTTTGTTTTTTATGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTTACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGGGTGCAGATCTTTGTTTTGTCCACTGATGTCTTCCAGGTGCCTAGGATAATACTTGGCACTCAATATGTGTGGTCAATGAAGATATGAATGGATGTAATATATGAATTTGATGTAAACTCCAAAAACAACCAAAAAGCCCATTGTGGTTTTTCAGTGAATTCAATTACAAAAAGCCCAAGTCCATTCCCTAGGTGGCCAGAATGAATTTGTGTTGGAGGGTGATGGATGTGCTCAGGGAGTTGGCTATTTCCTAAGCTGAGCCCCGACTCCTGTTTCTCACATAGGGAGCCAGGGGCCAGGGAGGTGCGGGGCTCACATTTCGGGGCCGGATGGGGACCCTCTCGTTCTCCGCACTCATGCCAGGAATGATGACGGTCATGCGCCGGGGGCCACGGAAGCCCAGCACGTTGGTTTCCTGGGAAGGAAACAGATGCCTGTGAGGCCAGCCCCTGTAAGGGGAGCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCAAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGACAGAGATGACGGGCTATGGCCTTTTGCTGACCCAAGTCCCCCCAGCCCCAGGAAGCCCAGCCCCACCTCAGCTTCCCGATGAAATTCTCCCCTCCTCGGGACAGATTGGTAGGGTCGATGGAGATGAGGTAATTGG
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Task1_train_10231
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A genomic change on Chromosome 6 affects TULP1 (TUB like protein 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Polydactyly, postaxial, type A1
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GGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTCTCATTGAGGTCTGCTTTGACAACCATATTTAATATTGAGACTTACACACTTATTATCTACCTTCCCCTGTTTGACTTTTTTCTTTTTAAATTTTTTCTTTTTATTTTTTATTATTTATTTATTTATTTATTTTGAGATGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGTGATTCTCTTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCCTGTCACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGACGGGATTTTACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCAGCTTGGCCTCCCAAAATGCTGGGGTCACAAGCGTGAGCCACCATGGCTGGCAACATTTTTTTTTTAATTTTTGAGACAGAGTGTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGCCTCACTGCAACCTCTGCTTCCCGGGTTCAAGCAATACTCCCTGCGTCAGCCTCCTGAGTAAACAGGTGAGATTACAGTTGCCCACTGCCACGCCCGGCTAATTTTTGTATATTTAGTAGAGACGGGGTTTAGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCACCTTGTCCTCCCAAAGTGCTGGGGATACAGGTGTGAGCCACTGCACCTGGTCTGACATTTTTCACCATAGCACTTACCACCTTCCAGTATGCTCCATAATTTACTTATTTATCACGATTATTGTCTACTGTCACTCTCCTCCCACTAGAATGCCAGCTTCAGGGGGGCAGAGCTTTGGTTTTTTTGTTTTGTTTTGTTTTGTTTTTTATGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTTACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGGGTGCAGATCTTTGTTTTGTCCACTGATGTCTTCCAGGTGCCTAGGATAATACTTGGCACTCAATATGTGTGGTCAATGAAGATATGAATGGATGTAATATATGAATTTGATGTAAACTCCAAAAACAACCAAAAAGCCCATTGTGGTTTTTCAGTGAATTCAATTACAAAAAGCCCAAGTCCATTCCCTAGGTGGCCAGAATGAATTTGTGTTGGAGGGTGATGGATGTGCTCAGGGAGTTGGCTATTTCCTAAGCTGAGCCCCGACTCCTGTTTCTCACATAGGGAGCCAGGGGCCAGGGAGGTGCGGGGCTCACATTTCGGGGCCGGATGGGGACCCTCTCGTTCTCCGCACTCATGCCAGGAATGATGACGGTCATGCGCCGGGGGCCACGGAAGCCCAGCACGTTGGTTTCCTGGGAAGGAAACAGATGCCTGTGAGGCCAGCCCCTGTAAGGGGAGCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGACAGAGATGACGGGCTATGGCCTTTTGCTGACCCAAGTCCCCCCAGCCCCAGGAAGCCCAGCCCCACCTCAGCTTCCCGATGAAATTCTCCCCTCCTCGGGACAGATTGGTAGGGTCGATGGAGATGAGGTAATTGG
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GGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTCTCATTGAGGTCTGCTTTGACAACCATATTTAATATTGAGACTTACACACTTATTATCTACCTTCCCCTGTTTGACTTTTTTCTTTTTAAATTTTTTCTTTTTATTTTTTATTATTTATTTATTTATTTATTTTGAGATGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGTGATTCTCTTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCCTGTCACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGACGGGATTTTACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCAGCTTGGCCTCCCAAAATGCTGGGGTCACAAGCGTGAGCCACCATGGCTGGCAACATTTTTTTTTTAATTTTTGAGACAGAGTGTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGCCTCACTGCAACCTCTGCTTCCCGGGTTCAAGCAATACTCCCTGCGTCAGCCTCCTGAGTAAACAGGTGAGATTACAGTTGCCCACTGCCACGCCCGGCTAATTTTTGTATATTTAGTAGAGACGGGGTTTAGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCACCTTGTCCTCCCAAAGTGCTGGGGATACAGGTGTGAGCCACTGCACCTGGTCTGACATTTTTCACCATAGCACTTACCACCTTCCAGTATGCTCCATAATTTACTTATTTATCACGATTATTGTCTACTGTCACTCTCCTCCCACTAGAATGCCAGCTTCAGGGGGGCAGAGCTTTGGTTTTTTTGTTTTGTTTTGTTTTGTTTTTTATGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTTACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGGGTGCAGATCTTTGTTTTGTCCACTGATGTCTTCCAGGTGCCTAGGATAATACTTGGCACTCAATATGTGTGGTCAATGAAGATATGAATGGATGTAATATATGAATTTGATGTAAACTCCAAAAACAACCAAAAAGCCCATTGTGGTTTTTCAGTGAATTCAATTACAAAAAGCCCAAGTCCATTCCCTAGGTGGCCAGAATGAATTTGTGTTGGAGGGTGATGGATGTGCTCAGGGAGTTGGCTATTTCCTAAGCTGAGCCCCGACTCCTGTTTCTCACATAGGGAGCCAGGGGCCAGGGAGGTGCGGGGCTCACATTTCGGGGCCGGATGGGGACCCTCTCGTTCTCCGCACTCATGCCAGGAATGATGACGGTCATGCGCCGGGGGCCACGGAAGCCCAGCACGTTGGTTTCCTGGGAAGGAAACAGATGCCTGTGAGGCCAGCCCCTGTAAGGGGAGCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCAAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGACAGAGATGACGGGCTATGGCCTTTTGCTGACCCAAGTCCCCCCAGCCCCAGGAAGCCCAGCCCCACCTCAGCTTCCCGATGAAATTCTCCCCTCCTCGGGACAGATTGGTAGGGTCGATGGAGATGAGGTAATTGG
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Task1_train_10232
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Given a variant located on Chromosome 6 and affecting TULP1 (TUB like protein 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Retinal degeneration
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GGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTCTCATTGAGGTCTGCTTTGACAACCATATTTAATATTGAGACTTACACACTTATTATCTACCTTCCCCTGTTTGACTTTTTTCTTTTTAAATTTTTTCTTTTTATTTTTTATTATTTATTTATTTATTTATTTTGAGATGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGTGATTCTCTTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCCTGTCACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGACGGGATTTTACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCAGCTTGGCCTCCCAAAATGCTGGGGTCACAAGCGTGAGCCACCATGGCTGGCAACATTTTTTTTTTAATTTTTGAGACAGAGTGTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGCCTCACTGCAACCTCTGCTTCCCGGGTTCAAGCAATACTCCCTGCGTCAGCCTCCTGAGTAAACAGGTGAGATTACAGTTGCCCACTGCCACGCCCGGCTAATTTTTGTATATTTAGTAGAGACGGGGTTTAGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCACCTTGTCCTCCCAAAGTGCTGGGGATACAGGTGTGAGCCACTGCACCTGGTCTGACATTTTTCACCATAGCACTTACCACCTTCCAGTATGCTCCATAATTTACTTATTTATCACGATTATTGTCTACTGTCACTCTCCTCCCACTAGAATGCCAGCTTCAGGGGGGCAGAGCTTTGGTTTTTTTGTTTTGTTTTGTTTTGTTTTTTATGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTTACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGGGTGCAGATCTTTGTTTTGTCCACTGATGTCTTCCAGGTGCCTAGGATAATACTTGGCACTCAATATGTGTGGTCAATGAAGATATGAATGGATGTAATATATGAATTTGATGTAAACTCCAAAAACAACCAAAAAGCCCATTGTGGTTTTTCAGTGAATTCAATTACAAAAAGCCCAAGTCCATTCCCTAGGTGGCCAGAATGAATTTGTGTTGGAGGGTGATGGATGTGCTCAGGGAGTTGGCTATTTCCTAAGCTGAGCCCCGACTCCTGTTTCTCACATAGGGAGCCAGGGGCCAGGGAGGTGCGGGGCTCACATTTCGGGGCCGGATGGGGACCCTCTCGTTCTCCGCACTCATGCCAGGAATGATGACGGTCATGCGCCGGGGGCCACGGAAGCCCAGCACGTTGGTTTCCTGGGAAGGAAACAGATGCCTGTGAGGCCAGCCCCTGTAAGGGGAGCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGACAGAGATGACGGGCTATGGCCTTTTGCTGACCCAAGTCCCCCCAGCCCCAGGAAGCCCAGCCCCACCTCAGCTTCCCGATGAAATTCTCCCCTCCTCGGGACAGATTGGTAGGGTCGATGGAGATGAGGTAATTGG
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GGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTCTCATTGAGGTCTGCTTTGACAACCATATTTAATATTGAGACTTACACACTTATTATCTACCTTCCCCTGTTTGACTTTTTTCTTTTTAAATTTTTTCTTTTTATTTTTTATTATTTATTTATTTATTTATTTTGAGATGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGTGATTCTCTTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCCTGTCACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGACGGGATTTTACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCAGCTTGGCCTCCCAAAATGCTGGGGTCACAAGCGTGAGCCACCATGGCTGGCAACATTTTTTTTTTAATTTTTGAGACAGAGTGTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGCCTCACTGCAACCTCTGCTTCCCGGGTTCAAGCAATACTCCCTGCGTCAGCCTCCTGAGTAAACAGGTGAGATTACAGTTGCCCACTGCCACGCCCGGCTAATTTTTGTATATTTAGTAGAGACGGGGTTTAGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCACCTTGTCCTCCCAAAGTGCTGGGGATACAGGTGTGAGCCACTGCACCTGGTCTGACATTTTTCACCATAGCACTTACCACCTTCCAGTATGCTCCATAATTTACTTATTTATCACGATTATTGTCTACTGTCACTCTCCTCCCACTAGAATGCCAGCTTCAGGGGGGCAGAGCTTTGGTTTTTTTGTTTTGTTTTGTTTTGTTTTTTATGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTTACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGGGTGCAGATCTTTGTTTTGTCCACTGATGTCTTCCAGGTGCCTAGGATAATACTTGGCACTCAATATGTGTGGTCAATGAAGATATGAATGGATGTAATATATGAATTTGATGTAAACTCCAAAAACAACCAAAAAGCCCATTGTGGTTTTTCAGTGAATTCAATTACAAAAAGCCCAAGTCCATTCCCTAGGTGGCCAGAATGAATTTGTGTTGGAGGGTGATGGATGTGCTCAGGGAGTTGGCTATTTCCTAAGCTGAGCCCCGACTCCTGTTTCTCACATAGGGAGCCAGGGGCCAGGGAGGTGCGGGGCTCACATTTCGGGGCCGGATGGGGACCCTCTCGTTCTCCGCACTCATGCCAGGAATGATGACGGTCATGCGCCGGGGGCCACGGAAGCCCAGCACGTTGGTTTCCTGGGAAGGAAACAGATGCCTGTGAGGCCAGCCCCTGTAAGGGGAGCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCAAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGACAGAGATGACGGGCTATGGCCTTTTGCTGACCCAAGTCCCCCCAGCCCCAGGAAGCCCAGCCCCACCTCAGCTTCCCGATGAAATTCTCCCCTCCTCGGGACAGATTGGTAGGGTCGATGGAGATGAGGTAATTGG
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Task1_train_10233
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The gene TULP1 (TUB like protein 1) on Chromosome 6 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; not provided
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TGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTCTCATTGAGGTCTGCTTTGACAACCATATTTAATATTGAGACTTACACACTTATTATCTACCTTCCCCTGTTTGACTTTTTTCTTTTTAAATTTTTTCTTTTTATTTTTTATTATTTATTTATTTATTTATTTTGAGATGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGTGATTCTCTTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCCTGTCACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGACGGGATTTTACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCAGCTTGGCCTCCCAAAATGCTGGGGTCACAAGCGTGAGCCACCATGGCTGGCAACATTTTTTTTTTAATTTTTGAGACAGAGTGTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGCCTCACTGCAACCTCTGCTTCCCGGGTTCAAGCAATACTCCCTGCGTCAGCCTCCTGAGTAAACAGGTGAGATTACAGTTGCCCACTGCCACGCCCGGCTAATTTTTGTATATTTAGTAGAGACGGGGTTTAGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCACCTTGTCCTCCCAAAGTGCTGGGGATACAGGTGTGAGCCACTGCACCTGGTCTGACATTTTTCACCATAGCACTTACCACCTTCCAGTATGCTCCATAATTTACTTATTTATCACGATTATTGTCTACTGTCACTCTCCTCCCACTAGAATGCCAGCTTCAGGGGGGCAGAGCTTTGGTTTTTTTGTTTTGTTTTGTTTTGTTTTTTATGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTTACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGGGTGCAGATCTTTGTTTTGTCCACTGATGTCTTCCAGGTGCCTAGGATAATACTTGGCACTCAATATGTGTGGTCAATGAAGATATGAATGGATGTAATATATGAATTTGATGTAAACTCCAAAAACAACCAAAAAGCCCATTGTGGTTTTTCAGTGAATTCAATTACAAAAAGCCCAAGTCCATTCCCTAGGTGGCCAGAATGAATTTGTGTTGGAGGGTGATGGATGTGCTCAGGGAGTTGGCTATTTCCTAAGCTGAGCCCCGACTCCTGTTTCTCACATAGGGAGCCAGGGGCCAGGGAGGTGCGGGGCTCACATTTCGGGGCCGGATGGGGACCCTCTCGTTCTCCGCACTCATGCCAGGAATGATGACGGTCATGCGCCGGGGGCCACGGAAGCCCAGCACGTTGGTTTCCTGGGAAGGAAACAGATGCCTGTGAGGCCAGCCCCTGTAAGGGGAGCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGACAGAGATGACGGGCTATGGCCTTTTGCTGACCCAAGTCCCCCCAGCCCCAGGAAGCCCAGCCCCACCTCAGCTTCCCGATGAAATTCTCCCCTCCTCGGGACAGATTGGTAGGGTCGATGGAGATGAGGTAATTGGCTGTCTTGCTCCGTTTTCGTTTCCTGCCAGCCAAGAGGAACACCT
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TGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTCTCATTGAGGTCTGCTTTGACAACCATATTTAATATTGAGACTTACACACTTATTATCTACCTTCCCCTGTTTGACTTTTTTCTTTTTAAATTTTTTCTTTTTATTTTTTATTATTTATTTATTTATTTATTTTGAGATGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGTGATTCTCTTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCCTGTCACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGACGGGATTTTACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCAGCTTGGCCTCCCAAAATGCTGGGGTCACAAGCGTGAGCCACCATGGCTGGCAACATTTTTTTTTTAATTTTTGAGACAGAGTGTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGCCTCACTGCAACCTCTGCTTCCCGGGTTCAAGCAATACTCCCTGCGTCAGCCTCCTGAGTAAACAGGTGAGATTACAGTTGCCCACTGCCACGCCCGGCTAATTTTTGTATATTTAGTAGAGACGGGGTTTAGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCACCTTGTCCTCCCAAAGTGCTGGGGATACAGGTGTGAGCCACTGCACCTGGTCTGACATTTTTCACCATAGCACTTACCACCTTCCAGTATGCTCCATAATTTACTTATTTATCACGATTATTGTCTACTGTCACTCTCCTCCCACTAGAATGCCAGCTTCAGGGGGGCAGAGCTTTGGTTTTTTTGTTTTGTTTTGTTTTGTTTTTTATGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTTACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGGGTGCAGATCTTTGTTTTGTCCACTGATGTCTTCCAGGTGCCTAGGATAATACTTGGCACTCAATATGTGTGGTCAATGAAGATATGAATGGATGTAATATATGAATTTGATGTAAACTCCAAAAACAACCAAAAAGCCCATTGTGGTTTTTCAGTGAATTCAATTACAAAAAGCCCAAGTCCATTCCCTAGGTGGCCAGAATGAATTTGTGTTGGAGGGTGATGGATGTGCTCAGGGAGTTGGCTATTTCCTAAGCTGAGCCCCGACTCCTGTTTCTCACATAGGGAGCCAGGGGCCAGGGAGGTGCGGGGCTCACATTTCGGGGCCGGATGGGGACCCTCTCGTTCTCCGCACTCATGCCAGGAATGATGACGGTCATGCGCCGGGGGCCACGGAAGCCCAGCACGTTGGTTTCCTGGGAAGGAAACAGATGCCTGTGAGGCCAGCCCCTGTAAGGGGAGCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCGGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGACAGAGATGACGGGCTATGGCCTTTTGCTGACCCAAGTCCCCCCAGCCCCAGGAAGCCCAGCCCCACCTCAGCTTCCCGATGAAATTCTCCCCTCCTCGGGACAGATTGGTAGGGTCGATGGAGATGAGGTAATTGGCTGTCTTGCTCCGTTTTCGTTTCCTGCCAGCCAAGAGGAACACCT
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Task1_train_10234
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The gene TULP1 (TUB like protein 1) is located on Chromosome 6, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; not provided
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ATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTCTCATTGAGGTCTGCTTTGACAACCATATTTAATATTGAGACTTACACACTTATTATCTACCTTCCCCTGTTTGACTTTTTTCTTTTTAAATTTTTTCTTTTTATTTTTTATTATTTATTTATTTATTTATTTTGAGATGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGTGATTCTCTTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCCTGTCACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGACGGGATTTTACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCAGCTTGGCCTCCCAAAATGCTGGGGTCACAAGCGTGAGCCACCATGGCTGGCAACATTTTTTTTTTAATTTTTGAGACAGAGTGTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGCCTCACTGCAACCTCTGCTTCCCGGGTTCAAGCAATACTCCCTGCGTCAGCCTCCTGAGTAAACAGGTGAGATTACAGTTGCCCACTGCCACGCCCGGCTAATTTTTGTATATTTAGTAGAGACGGGGTTTAGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCACCTTGTCCTCCCAAAGTGCTGGGGATACAGGTGTGAGCCACTGCACCTGGTCTGACATTTTTCACCATAGCACTTACCACCTTCCAGTATGCTCCATAATTTACTTATTTATCACGATTATTGTCTACTGTCACTCTCCTCCCACTAGAATGCCAGCTTCAGGGGGGCAGAGCTTTGGTTTTTTTGTTTTGTTTTGTTTTGTTTTTTATGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTTACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGGGTGCAGATCTTTGTTTTGTCCACTGATGTCTTCCAGGTGCCTAGGATAATACTTGGCACTCAATATGTGTGGTCAATGAAGATATGAATGGATGTAATATATGAATTTGATGTAAACTCCAAAAACAACCAAAAAGCCCATTGTGGTTTTTCAGTGAATTCAATTACAAAAAGCCCAAGTCCATTCCCTAGGTGGCCAGAATGAATTTGTGTTGGAGGGTGATGGATGTGCTCAGGGAGTTGGCTATTTCCTAAGCTGAGCCCCGACTCCTGTTTCTCACATAGGGAGCCAGGGGCCAGGGAGGTGCGGGGCTCACATTTCGGGGCCGGATGGGGACCCTCTCGTTCTCCGCACTCATGCCAGGAATGATGACGGTCATGCGCCGGGGGCCACGGAAGCCCAGCACGTTGGTTTCCTGGGAAGGAAACAGATGCCTGTGAGGCCAGCCCCTGTAAGGGGAGCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGACAGAGATGACGGGCTATGGCCTTTTGCTGACCCAAGTCCCCCCAGCCCCAGGAAGCCCAGCCCCACCTCAGCTTCCCGATGAAATTCTCCCCTCCTCGGGACAGATTGGTAGGGTCGATGGAGATGAGGTAATTGGCTGTCTTGCTCCGTTTTCGTTTCCTGCCAGCCAAGAGGAACACCTGGGG
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ATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTCTCATTGAGGTCTGCTTTGACAACCATATTTAATATTGAGACTTACACACTTATTATCTACCTTCCCCTGTTTGACTTTTTTCTTTTTAAATTTTTTCTTTTTATTTTTTATTATTTATTTATTTATTTATTTTGAGATGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGTGATTCTCTTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCCTGTCACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGACGGGATTTTACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCAGCTTGGCCTCCCAAAATGCTGGGGTCACAAGCGTGAGCCACCATGGCTGGCAACATTTTTTTTTTAATTTTTGAGACAGAGTGTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGCCTCACTGCAACCTCTGCTTCCCGGGTTCAAGCAATACTCCCTGCGTCAGCCTCCTGAGTAAACAGGTGAGATTACAGTTGCCCACTGCCACGCCCGGCTAATTTTTGTATATTTAGTAGAGACGGGGTTTAGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCACCTTGTCCTCCCAAAGTGCTGGGGATACAGGTGTGAGCCACTGCACCTGGTCTGACATTTTTCACCATAGCACTTACCACCTTCCAGTATGCTCCATAATTTACTTATTTATCACGATTATTGTCTACTGTCACTCTCCTCCCACTAGAATGCCAGCTTCAGGGGGGCAGAGCTTTGGTTTTTTTGTTTTGTTTTGTTTTGTTTTTTATGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTTACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGGGTGCAGATCTTTGTTTTGTCCACTGATGTCTTCCAGGTGCCTAGGATAATACTTGGCACTCAATATGTGTGGTCAATGAAGATATGAATGGATGTAATATATGAATTTGATGTAAACTCCAAAAACAACCAAAAAGCCCATTGTGGTTTTTCAGTGAATTCAATTACAAAAAGCCCAAGTCCATTCCCTAGGTGGCCAGAATGAATTTGTGTTGGAGGGTGATGGATGTGCTCAGGGAGTTGGCTATTTCCTAAGCTGAGCCCCGACTCCTGTTTCTCACATAGGGAGCCAGGGGCCAGGGAGGTGCGGGGCTCACATTTCGGGGCCGGATGGGGACCCTCTCGTTCTCCGCACTCATGCCAGGAATGATGACGGTCATGCGCCGGGGGCCACGGAAGCCCAGCACGTTGGTTTCCTGGGAAGGAAACAGATGCCTGTGAGGCCAGCCCCTGTAAGGGGAGCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTTTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGACAGAGATGACGGGCTATGGCCTTTTGCTGACCCAAGTCCCCCCAGCCCCAGGAAGCCCAGCCCCACCTCAGCTTCCCGATGAAATTCTCCCCTCCTCGGGACAGATTGGTAGGGTCGATGGAGATGAGGTAATTGGCTGTCTTGCTCCGTTTTCGTTTCCTGCCAGCCAAGAGGAACACCTGGGG
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Task1_train_10235
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This mutation occurs in TULP1 (TUB like protein 1) on Chromosome 6. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Retinal dystrophy
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GGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTCTCATTGAGGTCTGCTTTGACAACCATATTTAATATTGAGACTTACACACTTATTATCTACCTTCCCCTGTTTGACTTTTTTCTTTTTAAATTTTTTCTTTTTATTTTTTATTATTTATTTATTTATTTATTTTGAGATGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGTGATTCTCTTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCCTGTCACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGACGGGATTTTACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCAGCTTGGCCTCCCAAAATGCTGGGGTCACAAGCGTGAGCCACCATGGCTGGCAACATTTTTTTTTTAATTTTTGAGACAGAGTGTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGCCTCACTGCAACCTCTGCTTCCCGGGTTCAAGCAATACTCCCTGCGTCAGCCTCCTGAGTAAACAGGTGAGATTACAGTTGCCCACTGCCACGCCCGGCTAATTTTTGTATATTTAGTAGAGACGGGGTTTAGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCACCTTGTCCTCCCAAAGTGCTGGGGATACAGGTGTGAGCCACTGCACCTGGTCTGACATTTTTCACCATAGCACTTACCACCTTCCAGTATGCTCCATAATTTACTTATTTATCACGATTATTGTCTACTGTCACTCTCCTCCCACTAGAATGCCAGCTTCAGGGGGGCAGAGCTTTGGTTTTTTTGTTTTGTTTTGTTTTGTTTTTTATGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTTACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGGGTGCAGATCTTTGTTTTGTCCACTGATGTCTTCCAGGTGCCTAGGATAATACTTGGCACTCAATATGTGTGGTCAATGAAGATATGAATGGATGTAATATATGAATTTGATGTAAACTCCAAAAACAACCAAAAAGCCCATTGTGGTTTTTCAGTGAATTCAATTACAAAAAGCCCAAGTCCATTCCCTAGGTGGCCAGAATGAATTTGTGTTGGAGGGTGATGGATGTGCTCAGGGAGTTGGCTATTTCCTAAGCTGAGCCCCGACTCCTGTTTCTCACATAGGGAGCCAGGGGCCAGGGAGGTGCGGGGCTCACATTTCGGGGCCGGATGGGGACCCTCTCGTTCTCCGCACTCATGCCAGGAATGATGACGGTCATGCGCCGGGGGCCACGGAAGCCCAGCACGTTGGTTTCCTGGGAAGGAAACAGATGCCTGTGAGGCCAGCCCCTGTAAGGGGAGCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGACAGAGATGACGGGCTATGGCCTTTTGCTGACCCAAGTCCCCCCAGCCCCAGGAAGCCCAGCCCCACCTCAGCTTCCCGATGAAATTCTCCCCTCCTCGGGACAGATTGGTAGGGTCGATGGAGATGAGGTAATTGGCTGTCTTGCTCCGTTTTCGTTTCCTGCCAGCCAAGAGGAACACCTGGGGAAAA
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GGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTCTCATTGAGGTCTGCTTTGACAACCATATTTAATATTGAGACTTACACACTTATTATCTACCTTCCCCTGTTTGACTTTTTTCTTTTTAAATTTTTTCTTTTTATTTTTTATTATTTATTTATTTATTTATTTTGAGATGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGTGATTCTCTTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCCTGTCACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGACGGGATTTTACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCAGCTTGGCCTCCCAAAATGCTGGGGTCACAAGCGTGAGCCACCATGGCTGGCAACATTTTTTTTTTAATTTTTGAGACAGAGTGTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGCCTCACTGCAACCTCTGCTTCCCGGGTTCAAGCAATACTCCCTGCGTCAGCCTCCTGAGTAAACAGGTGAGATTACAGTTGCCCACTGCCACGCCCGGCTAATTTTTGTATATTTAGTAGAGACGGGGTTTAGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCACCTTGTCCTCCCAAAGTGCTGGGGATACAGGTGTGAGCCACTGCACCTGGTCTGACATTTTTCACCATAGCACTTACCACCTTCCAGTATGCTCCATAATTTACTTATTTATCACGATTATTGTCTACTGTCACTCTCCTCCCACTAGAATGCCAGCTTCAGGGGGGCAGAGCTTTGGTTTTTTTGTTTTGTTTTGTTTTGTTTTTTATGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTTACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGGGTGCAGATCTTTGTTTTGTCCACTGATGTCTTCCAGGTGCCTAGGATAATACTTGGCACTCAATATGTGTGGTCAATGAAGATATGAATGGATGTAATATATGAATTTGATGTAAACTCCAAAAACAACCAAAAAGCCCATTGTGGTTTTTCAGTGAATTCAATTACAAAAAGCCCAAGTCCATTCCCTAGGTGGCCAGAATGAATTTGTGTTGGAGGGTGATGGATGTGCTCAGGGAGTTGGCTATTTCCTAAGCTGAGCCCCGACTCCTGTTTCTCACATAGGGAGCCAGGGGCCAGGGAGGTGCGGGGCTCACATTTCGGGGCCGGATGGGGACCCTCTCGTTCTCCGCACTCATGCCAGGAATGATGACGGTCATGCGCCGGGGGCCACGGAAGCCCAGCACGTTGGTTTCCTGGGAAGGAAACAGATGCCTGTGAGGCCAGCCCCTGTAAGGGGAGCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAGAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGACAGAGATGACGGGCTATGGCCTTTTGCTGACCCAAGTCCCCCCAGCCCCAGGAAGCCCAGCCCCACCTCAGCTTCCCGATGAAATTCTCCCCTCCTCGGGACAGATTGGTAGGGTCGATGGAGATGAGGTAATTGGCTGTCTTGCTCCGTTTTCGTTTCCTGCCAGCCAAGAGGAACACCTGGGGAAAA
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Task1_train_10236
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Given this variant in gene TULP1 (TUB like protein 1) on Chromosome 6, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Retinitis pigmentosa 14
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GGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTCTCATTGAGGTCTGCTTTGACAACCATATTTAATATTGAGACTTACACACTTATTATCTACCTTCCCCTGTTTGACTTTTTTCTTTTTAAATTTTTTCTTTTTATTTTTTATTATTTATTTATTTATTTATTTTGAGATGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGTGATTCTCTTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCCTGTCACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGACGGGATTTTACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCAGCTTGGCCTCCCAAAATGCTGGGGTCACAAGCGTGAGCCACCATGGCTGGCAACATTTTTTTTTTAATTTTTGAGACAGAGTGTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGCCTCACTGCAACCTCTGCTTCCCGGGTTCAAGCAATACTCCCTGCGTCAGCCTCCTGAGTAAACAGGTGAGATTACAGTTGCCCACTGCCACGCCCGGCTAATTTTTGTATATTTAGTAGAGACGGGGTTTAGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCACCTTGTCCTCCCAAAGTGCTGGGGATACAGGTGTGAGCCACTGCACCTGGTCTGACATTTTTCACCATAGCACTTACCACCTTCCAGTATGCTCCATAATTTACTTATTTATCACGATTATTGTCTACTGTCACTCTCCTCCCACTAGAATGCCAGCTTCAGGGGGGCAGAGCTTTGGTTTTTTTGTTTTGTTTTGTTTTGTTTTTTATGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTTACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGGGTGCAGATCTTTGTTTTGTCCACTGATGTCTTCCAGGTGCCTAGGATAATACTTGGCACTCAATATGTGTGGTCAATGAAGATATGAATGGATGTAATATATGAATTTGATGTAAACTCCAAAAACAACCAAAAAGCCCATTGTGGTTTTTCAGTGAATTCAATTACAAAAAGCCCAAGTCCATTCCCTAGGTGGCCAGAATGAATTTGTGTTGGAGGGTGATGGATGTGCTCAGGGAGTTGGCTATTTCCTAAGCTGAGCCCCGACTCCTGTTTCTCACATAGGGAGCCAGGGGCCAGGGAGGTGCGGGGCTCACATTTCGGGGCCGGATGGGGACCCTCTCGTTCTCCGCACTCATGCCAGGAATGATGACGGTCATGCGCCGGGGGCCACGGAAGCCCAGCACGTTGGTTTCCTGGGAAGGAAACAGATGCCTGTGAGGCCAGCCCCTGTAAGGGGAGCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGACAGAGATGACGGGCTATGGCCTTTTGCTGACCCAAGTCCCCCCAGCCCCAGGAAGCCCAGCCCCACCTCAGCTTCCCGATGAAATTCTCCCCTCCTCGGGACAGATTGGTAGGGTCGATGGAGATGAGGTAATTGGCTGTCTTGCTCCGTTTTCGTTTCCTGCCAGCCAAGAGGAACACCTGGGGAAAA
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GGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTCTCATTGAGGTCTGCTTTGACAACCATATTTAATATTGAGACTTACACACTTATTATCTACCTTCCCCTGTTTGACTTTTTTCTTTTTAAATTTTTTCTTTTTATTTTTTATTATTTATTTATTTATTTATTTTGAGATGGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGCAGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGTGATTCTCTTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCCTGTCACCATGCCCAGTTAATTTTTGTATTTTTAGTAGAGACGGGATTTTACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCCAGCTTGGCCTCCCAAAATGCTGGGGTCACAAGCGTGAGCCACCATGGCTGGCAACATTTTTTTTTTAATTTTTGAGACAGAGTGTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGCCTCACTGCAACCTCTGCTTCCCGGGTTCAAGCAATACTCCCTGCGTCAGCCTCCTGAGTAAACAGGTGAGATTACAGTTGCCCACTGCCACGCCCGGCTAATTTTTGTATATTTAGTAGAGACGGGGTTTAGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCACCTTGTCCTCCCAAAGTGCTGGGGATACAGGTGTGAGCCACTGCACCTGGTCTGACATTTTTCACCATAGCACTTACCACCTTCCAGTATGCTCCATAATTTACTTATTTATCACGATTATTGTCTACTGTCACTCTCCTCCCACTAGAATGCCAGCTTCAGGGGGGCAGAGCTTTGGTTTTTTTGTTTTGTTTTGTTTTGTTTTTTATGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTTACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGGGTGCAGATCTTTGTTTTGTCCACTGATGTCTTCCAGGTGCCTAGGATAATACTTGGCACTCAATATGTGTGGTCAATGAAGATATGAATGGATGTAATATATGAATTTGATGTAAACTCCAAAAACAACCAAAAAGCCCATTGTGGTTTTTCAGTGAATTCAATTACAAAAAGCCCAAGTCCATTCCCTAGGTGGCCAGAATGAATTTGTGTTGGAGGGTGATGGATGTGCTCAGGGAGTTGGCTATTTCCTAAGCTGAGCCCCGACTCCTGTTTCTCACATAGGGAGCCAGGGGCCAGGGAGGTGCGGGGCTCACATTTCGGGGCCGGATGGGGACCCTCTCGTTCTCCGCACTCATGCCAGGAATGATGACGGTCATGCGCCGGGGGCCACGGAAGCCCAGCACGTTGGTTTCCTGGGAAGGAAACAGATGCCTGTGAGGCCAGCCCCTGTAAGGGGAGCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAGAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGACAGAGATGACGGGCTATGGCCTTTTGCTGACCCAAGTCCCCCCAGCCCCAGGAAGCCCAGCCCCACCTCAGCTTCCCGATGAAATTCTCCCCTCCTCGGGACAGATTGGTAGGGTCGATGGAGATGAGGTAATTGGCTGTCTTGCTCCGTTTTCGTTTCCTGCCAGCCAAGAGGAACACCTGGGGAAAA
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Task1_train_10237
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A variant found in Chromosome 6 affects TULP1 (TUB like protein 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Leber congenital amaurosis
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GCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGACAGAGATGACGGGCTATGGCCTTTTGCTGACCCAAGTCCCCCCAGCCCCAGGAAGCCCAGCCCCACCTCAGCTTCCCGATGAAATTCTCCCCTCCTCGGGACAGATTGGTAGGGTCGATGGAGATGAGGTAATTGGCTGTCTTGCTCCGTTTTCGTTTCCTGCCAGCCAAGAGGAACACCTGGGGAAAAGGGGAGACAGGTGAGAGGATGGGAAGAGAAGGTGGGAAGGGGTGGAGGTGAGCTGCAGGGAGAAATCAGGCCCGTTTGTCCCGTGGCCCCCATGCCGGATCCCTCCACACTCCCTCCTCTGCTGCCTCTCCCCACCCACCTTCTTCTCCGTGTCCAGGTGCAGGAAGTAGGAGGGATACATGCCTCGATCCATGCCCTTTTTGTCCCGGGTCAGCCGGCAGCGCACCGTGCGGCCCTGGGGGGCAGGCCGGAGCACAAACTCCCGGGGTTCGTCCACCTCCACGGGGGGAGACGGGGCCCTCTCCTCCTTCTGGGTGGGGGCAGAGGGTACATCAGCCCCAGAGCACCAGCTCCCCCGCTCCCAGCAGGTCCCAGTGCTGAGACACGGGCAGCCCGGCAGGACAACTCACCGCTTTCTGTGTGCGGAGAGAACAGAGAGGCTGGCTAGAGCAGGGGCCGCATCCCTGGAGGCGGGGAAGCCACTGCCCCTCATGCTCCCTGGCAGCCCGGCACGGCCAAGTTAGGAGGCTCTGGGGAGCTCTGTGATTTATTTTGATTCTGCTTAGCTTGTGGATAGGAGCACACACTCTGGAGCCAGACTGTCTAGGTTCAAATCCTAGTTTCACTACTAACTGTCTTCACTGTTAAGTTTCACCACACTGTAACTCAATTTTCTCATCTGAGAAGTAGGTATAGTAGGGGTGGATACCTGGGACAGACCTTACCTATGTATTTAACACACGCTTGCATAAATTCTATCAGGGTGCCATAGTTTCAAGTACTTTCGAAATATTTACTCATTTCATCCTCTTATCACCCCACTGCGATAGTCATCCCCATTGTATAGATGAAGAAACTGAGGCTTAGAGAAGTTAAGTCACTTGCCCAAGTTCACATAACTAGTAAGAGGTGGGGCTGGGGCATGAGTTTTGTCCAATCTCCTATGAGGTCCAGAGCCTTTAGAAAGACCTTCCCTCCTTTGCACACTGTCTCAGGCAGTGAAGTGGGGCTAACAGAATGGACTGCTGTGTTCTAAGCACTATGGAAGTGTTAGCTGCTACTCTTATTGTTAGCGTATAGTAAATAATGAATACCATAGTCAAGATGATATTCATTATCATAAGATGGCACCCAGTGATCCTTGTCTCCTGGTATTTGTGCCTTTGTGTAGTCTCCTCCCACTGCATACCAGGGTTGGTCCCTGTGACCAGTAGAATATGGCAGAAGTGATCATGGGCCACTCCAAGGTTAGGTCATAAAAGATATTGTGGCTTCTATATGGCTCTCTGTCTCTTGGACTTTGGGAGAAGTTGGCTGCCATGCCATAAGAACACTCAAGCAAAAAAAAAAAAAAAAAAGAACACTCAAGCAGCCTCCAGGAGAGGTCCCTGTAGGAAGGAACTGAGATCTCCAGCTAACACCTACCACAGGGAACTATTTTAGAAGTGGATCCTTCATTTCCAGTGAAGCCTTCAGAGTGACCGAAGCCCCAGCTGACATTTTGACTGCAGCTTCCTCCGAGACCCTGAGCCAGAACTACTCTGCTAAGCCACTCCTAGATTTCTGGCTCTCAGAAATTGAATAAGAAAGTAAATGTTGTTTTAAGATGCTCAGTTTGGGGTGATTTGTTACATAGCAATGCATAGTTAACACATGAATGAATATGTAAGCTCACTTTGCTCATTGAGAAACTCCTAAGAACAATTTGGTGACATAAAGCCCTAGGGTGGCCTGGTGACCCCACAACAGCCCCTTCTGTTCTCACAAACCTGGTGCCCTTTGTCCTCATGTTCTATCCCTCACAGGAAGGGAGCCAAGAGTCTAAGCCCAACTTTTCCAACAGAGGCAAGCATGGACTGCCAGCCTGGGTGTGTGCATTTGAGGGTTCAATGCTATTTGGGAGCCACGAAGAATCCACAAAGATGTGCTGTGGTT
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GCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGACAGAGATGACGGGCTATGGCCTTTTGCTGACCCAAGTCCCCCCAGCCCCAGGAAGCCCAGCCCCACCTCAGCTTCCAGATGAAATTCTCCCCTCCTCGGGACAGATTGGTAGGGTCGATGGAGATGAGGTAATTGGCTGTCTTGCTCCGTTTTCGTTTCCTGCCAGCCAAGAGGAACACCTGGGGAAAAGGGGAGACAGGTGAGAGGATGGGAAGAGAAGGTGGGAAGGGGTGGAGGTGAGCTGCAGGGAGAAATCAGGCCCGTTTGTCCCGTGGCCCCCATGCCGGATCCCTCCACACTCCCTCCTCTGCTGCCTCTCCCCACCCACCTTCTTCTCCGTGTCCAGGTGCAGGAAGTAGGAGGGATACATGCCTCGATCCATGCCCTTTTTGTCCCGGGTCAGCCGGCAGCGCACCGTGCGGCCCTGGGGGGCAGGCCGGAGCACAAACTCCCGGGGTTCGTCCACCTCCACGGGGGGAGACGGGGCCCTCTCCTCCTTCTGGGTGGGGGCAGAGGGTACATCAGCCCCAGAGCACCAGCTCCCCCGCTCCCAGCAGGTCCCAGTGCTGAGACACGGGCAGCCCGGCAGGACAACTCACCGCTTTCTGTGTGCGGAGAGAACAGAGAGGCTGGCTAGAGCAGGGGCCGCATCCCTGGAGGCGGGGAAGCCACTGCCCCTCATGCTCCCTGGCAGCCCGGCACGGCCAAGTTAGGAGGCTCTGGGGAGCTCTGTGATTTATTTTGATTCTGCTTAGCTTGTGGATAGGAGCACACACTCTGGAGCCAGACTGTCTAGGTTCAAATCCTAGTTTCACTACTAACTGTCTTCACTGTTAAGTTTCACCACACTGTAACTCAATTTTCTCATCTGAGAAGTAGGTATAGTAGGGGTGGATACCTGGGACAGACCTTACCTATGTATTTAACACACGCTTGCATAAATTCTATCAGGGTGCCATAGTTTCAAGTACTTTCGAAATATTTACTCATTTCATCCTCTTATCACCCCACTGCGATAGTCATCCCCATTGTATAGATGAAGAAACTGAGGCTTAGAGAAGTTAAGTCACTTGCCCAAGTTCACATAACTAGTAAGAGGTGGGGCTGGGGCATGAGTTTTGTCCAATCTCCTATGAGGTCCAGAGCCTTTAGAAAGACCTTCCCTCCTTTGCACACTGTCTCAGGCAGTGAAGTGGGGCTAACAGAATGGACTGCTGTGTTCTAAGCACTATGGAAGTGTTAGCTGCTACTCTTATTGTTAGCGTATAGTAAATAATGAATACCATAGTCAAGATGATATTCATTATCATAAGATGGCACCCAGTGATCCTTGTCTCCTGGTATTTGTGCCTTTGTGTAGTCTCCTCCCACTGCATACCAGGGTTGGTCCCTGTGACCAGTAGAATATGGCAGAAGTGATCATGGGCCACTCCAAGGTTAGGTCATAAAAGATATTGTGGCTTCTATATGGCTCTCTGTCTCTTGGACTTTGGGAGAAGTTGGCTGCCATGCCATAAGAACACTCAAGCAAAAAAAAAAAAAAAAAAGAACACTCAAGCAGCCTCCAGGAGAGGTCCCTGTAGGAAGGAACTGAGATCTCCAGCTAACACCTACCACAGGGAACTATTTTAGAAGTGGATCCTTCATTTCCAGTGAAGCCTTCAGAGTGACCGAAGCCCCAGCTGACATTTTGACTGCAGCTTCCTCCGAGACCCTGAGCCAGAACTACTCTGCTAAGCCACTCCTAGATTTCTGGCTCTCAGAAATTGAATAAGAAAGTAAATGTTGTTTTAAGATGCTCAGTTTGGGGTGATTTGTTACATAGCAATGCATAGTTAACACATGAATGAATATGTAAGCTCACTTTGCTCATTGAGAAACTCCTAAGAACAATTTGGTGACATAAAGCCCTAGGGTGGCCTGGTGACCCCACAACAGCCCCTTCTGTTCTCACAAACCTGGTGCCCTTTGTCCTCATGTTCTATCCCTCACAGGAAGGGAGCCAAGAGTCTAAGCCCAACTTTTCCAACAGAGGCAAGCATGGACTGCCAGCCTGGGTGTGTGCATTTGAGGGTTCAATGCTATTTGGGAGCCACGAAGAATCCACAAAGATGTGCTGTGGTT
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Task1_train_10238
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With a mutation on Chromosome 6 in gene TULP1 (TUB like protein 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Retinal dystrophy
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GCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGACAGAGATGACGGGCTATGGCCTTTTGCTGACCCAAGTCCCCCCAGCCCCAGGAAGCCCAGCCCCACCTCAGCTTCCCGATGAAATTCTCCCCTCCTCGGGACAGATTGGTAGGGTCGATGGAGATGAGGTAATTGGCTGTCTTGCTCCGTTTTCGTTTCCTGCCAGCCAAGAGGAACACCTGGGGAAAAGGGGAGACAGGTGAGAGGATGGGAAGAGAAGGTGGGAAGGGGTGGAGGTGAGCTGCAGGGAGAAATCAGGCCCGTTTGTCCCGTGGCCCCCATGCCGGATCCCTCCACACTCCCTCCTCTGCTGCCTCTCCCCACCCACCTTCTTCTCCGTGTCCAGGTGCAGGAAGTAGGAGGGATACATGCCTCGATCCATGCCCTTTTTGTCCCGGGTCAGCCGGCAGCGCACCGTGCGGCCCTGGGGGGCAGGCCGGAGCACAAACTCCCGGGGTTCGTCCACCTCCACGGGGGGAGACGGGGCCCTCTCCTCCTTCTGGGTGGGGGCAGAGGGTACATCAGCCCCAGAGCACCAGCTCCCCCGCTCCCAGCAGGTCCCAGTGCTGAGACACGGGCAGCCCGGCAGGACAACTCACCGCTTTCTGTGTGCGGAGAGAACAGAGAGGCTGGCTAGAGCAGGGGCCGCATCCCTGGAGGCGGGGAAGCCACTGCCCCTCATGCTCCCTGGCAGCCCGGCACGGCCAAGTTAGGAGGCTCTGGGGAGCTCTGTGATTTATTTTGATTCTGCTTAGCTTGTGGATAGGAGCACACACTCTGGAGCCAGACTGTCTAGGTTCAAATCCTAGTTTCACTACTAACTGTCTTCACTGTTAAGTTTCACCACACTGTAACTCAATTTTCTCATCTGAGAAGTAGGTATAGTAGGGGTGGATACCTGGGACAGACCTTACCTATGTATTTAACACACGCTTGCATAAATTCTATCAGGGTGCCATAGTTTCAAGTACTTTCGAAATATTTACTCATTTCATCCTCTTATCACCCCACTGCGATAGTCATCCCCATTGTATAGATGAAGAAACTGAGGCTTAGAGAAGTTAAGTCACTTGCCCAAGTTCACATAACTAGTAAGAGGTGGGGCTGGGGCATGAGTTTTGTCCAATCTCCTATGAGGTCCAGAGCCTTTAGAAAGACCTTCCCTCCTTTGCACACTGTCTCAGGCAGTGAAGTGGGGCTAACAGAATGGACTGCTGTGTTCTAAGCACTATGGAAGTGTTAGCTGCTACTCTTATTGTTAGCGTATAGTAAATAATGAATACCATAGTCAAGATGATATTCATTATCATAAGATGGCACCCAGTGATCCTTGTCTCCTGGTATTTGTGCCTTTGTGTAGTCTCCTCCCACTGCATACCAGGGTTGGTCCCTGTGACCAGTAGAATATGGCAGAAGTGATCATGGGCCACTCCAAGGTTAGGTCATAAAAGATATTGTGGCTTCTATATGGCTCTCTGTCTCTTGGACTTTGGGAGAAGTTGGCTGCCATGCCATAAGAACACTCAAGCAAAAAAAAAAAAAAAAAAGAACACTCAAGCAGCCTCCAGGAGAGGTCCCTGTAGGAAGGAACTGAGATCTCCAGCTAACACCTACCACAGGGAACTATTTTAGAAGTGGATCCTTCATTTCCAGTGAAGCCTTCAGAGTGACCGAAGCCCCAGCTGACATTTTGACTGCAGCTTCCTCCGAGACCCTGAGCCAGAACTACTCTGCTAAGCCACTCCTAGATTTCTGGCTCTCAGAAATTGAATAAGAAAGTAAATGTTGTTTTAAGATGCTCAGTTTGGGGTGATTTGTTACATAGCAATGCATAGTTAACACATGAATGAATATGTAAGCTCACTTTGCTCATTGAGAAACTCCTAAGAACAATTTGGTGACATAAAGCCCTAGGGTGGCCTGGTGACCCCACAACAGCCCCTTCTGTTCTCACAAACCTGGTGCCCTTTGTCCTCATGTTCTATCCCTCACAGGAAGGGAGCCAAGAGTCTAAGCCCAACTTTTCCAACAGAGGCAAGCATGGACTGCCAGCCTGGGTGTGTGCATTTGAGGGTTCAATGCTATTTGGGAGCCACGAAGAATCCACAAAGATGTGCTGTGGTT
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GCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGACAGAGATGACGGGCTATGGCCTTTTGCTGACCCAAGTCCCCCCAGCCCCAGGAAGCCCAGCCCCACCTCAGCTTCCAGATGAAATTCTCCCCTCCTCGGGACAGATTGGTAGGGTCGATGGAGATGAGGTAATTGGCTGTCTTGCTCCGTTTTCGTTTCCTGCCAGCCAAGAGGAACACCTGGGGAAAAGGGGAGACAGGTGAGAGGATGGGAAGAGAAGGTGGGAAGGGGTGGAGGTGAGCTGCAGGGAGAAATCAGGCCCGTTTGTCCCGTGGCCCCCATGCCGGATCCCTCCACACTCCCTCCTCTGCTGCCTCTCCCCACCCACCTTCTTCTCCGTGTCCAGGTGCAGGAAGTAGGAGGGATACATGCCTCGATCCATGCCCTTTTTGTCCCGGGTCAGCCGGCAGCGCACCGTGCGGCCCTGGGGGGCAGGCCGGAGCACAAACTCCCGGGGTTCGTCCACCTCCACGGGGGGAGACGGGGCCCTCTCCTCCTTCTGGGTGGGGGCAGAGGGTACATCAGCCCCAGAGCACCAGCTCCCCCGCTCCCAGCAGGTCCCAGTGCTGAGACACGGGCAGCCCGGCAGGACAACTCACCGCTTTCTGTGTGCGGAGAGAACAGAGAGGCTGGCTAGAGCAGGGGCCGCATCCCTGGAGGCGGGGAAGCCACTGCCCCTCATGCTCCCTGGCAGCCCGGCACGGCCAAGTTAGGAGGCTCTGGGGAGCTCTGTGATTTATTTTGATTCTGCTTAGCTTGTGGATAGGAGCACACACTCTGGAGCCAGACTGTCTAGGTTCAAATCCTAGTTTCACTACTAACTGTCTTCACTGTTAAGTTTCACCACACTGTAACTCAATTTTCTCATCTGAGAAGTAGGTATAGTAGGGGTGGATACCTGGGACAGACCTTACCTATGTATTTAACACACGCTTGCATAAATTCTATCAGGGTGCCATAGTTTCAAGTACTTTCGAAATATTTACTCATTTCATCCTCTTATCACCCCACTGCGATAGTCATCCCCATTGTATAGATGAAGAAACTGAGGCTTAGAGAAGTTAAGTCACTTGCCCAAGTTCACATAACTAGTAAGAGGTGGGGCTGGGGCATGAGTTTTGTCCAATCTCCTATGAGGTCCAGAGCCTTTAGAAAGACCTTCCCTCCTTTGCACACTGTCTCAGGCAGTGAAGTGGGGCTAACAGAATGGACTGCTGTGTTCTAAGCACTATGGAAGTGTTAGCTGCTACTCTTATTGTTAGCGTATAGTAAATAATGAATACCATAGTCAAGATGATATTCATTATCATAAGATGGCACCCAGTGATCCTTGTCTCCTGGTATTTGTGCCTTTGTGTAGTCTCCTCCCACTGCATACCAGGGTTGGTCCCTGTGACCAGTAGAATATGGCAGAAGTGATCATGGGCCACTCCAAGGTTAGGTCATAAAAGATATTGTGGCTTCTATATGGCTCTCTGTCTCTTGGACTTTGGGAGAAGTTGGCTGCCATGCCATAAGAACACTCAAGCAAAAAAAAAAAAAAAAAAGAACACTCAAGCAGCCTCCAGGAGAGGTCCCTGTAGGAAGGAACTGAGATCTCCAGCTAACACCTACCACAGGGAACTATTTTAGAAGTGGATCCTTCATTTCCAGTGAAGCCTTCAGAGTGACCGAAGCCCCAGCTGACATTTTGACTGCAGCTTCCTCCGAGACCCTGAGCCAGAACTACTCTGCTAAGCCACTCCTAGATTTCTGGCTCTCAGAAATTGAATAAGAAAGTAAATGTTGTTTTAAGATGCTCAGTTTGGGGTGATTTGTTACATAGCAATGCATAGTTAACACATGAATGAATATGTAAGCTCACTTTGCTCATTGAGAAACTCCTAAGAACAATTTGGTGACATAAAGCCCTAGGGTGGCCTGGTGACCCCACAACAGCCCCTTCTGTTCTCACAAACCTGGTGCCCTTTGTCCTCATGTTCTATCCCTCACAGGAAGGGAGCCAAGAGTCTAAGCCCAACTTTTCCAACAGAGGCAAGCATGGACTGCCAGCCTGGGTGTGTGCATTTGAGGGTTCAATGCTATTTGGGAGCCACGAAGAATCCACAAAGATGTGCTGTGGTT
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Task1_train_10239
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This genomic variant is located on Chromosome 6, within the TULP1 (TUB like protein 1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Retinitis pigmentosa 14
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GCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGACAGAGATGACGGGCTATGGCCTTTTGCTGACCCAAGTCCCCCCAGCCCCAGGAAGCCCAGCCCCACCTCAGCTTCCCGATGAAATTCTCCCCTCCTCGGGACAGATTGGTAGGGTCGATGGAGATGAGGTAATTGGCTGTCTTGCTCCGTTTTCGTTTCCTGCCAGCCAAGAGGAACACCTGGGGAAAAGGGGAGACAGGTGAGAGGATGGGAAGAGAAGGTGGGAAGGGGTGGAGGTGAGCTGCAGGGAGAAATCAGGCCCGTTTGTCCCGTGGCCCCCATGCCGGATCCCTCCACACTCCCTCCTCTGCTGCCTCTCCCCACCCACCTTCTTCTCCGTGTCCAGGTGCAGGAAGTAGGAGGGATACATGCCTCGATCCATGCCCTTTTTGTCCCGGGTCAGCCGGCAGCGCACCGTGCGGCCCTGGGGGGCAGGCCGGAGCACAAACTCCCGGGGTTCGTCCACCTCCACGGGGGGAGACGGGGCCCTCTCCTCCTTCTGGGTGGGGGCAGAGGGTACATCAGCCCCAGAGCACCAGCTCCCCCGCTCCCAGCAGGTCCCAGTGCTGAGACACGGGCAGCCCGGCAGGACAACTCACCGCTTTCTGTGTGCGGAGAGAACAGAGAGGCTGGCTAGAGCAGGGGCCGCATCCCTGGAGGCGGGGAAGCCACTGCCCCTCATGCTCCCTGGCAGCCCGGCACGGCCAAGTTAGGAGGCTCTGGGGAGCTCTGTGATTTATTTTGATTCTGCTTAGCTTGTGGATAGGAGCACACACTCTGGAGCCAGACTGTCTAGGTTCAAATCCTAGTTTCACTACTAACTGTCTTCACTGTTAAGTTTCACCACACTGTAACTCAATTTTCTCATCTGAGAAGTAGGTATAGTAGGGGTGGATACCTGGGACAGACCTTACCTATGTATTTAACACACGCTTGCATAAATTCTATCAGGGTGCCATAGTTTCAAGTACTTTCGAAATATTTACTCATTTCATCCTCTTATCACCCCACTGCGATAGTCATCCCCATTGTATAGATGAAGAAACTGAGGCTTAGAGAAGTTAAGTCACTTGCCCAAGTTCACATAACTAGTAAGAGGTGGGGCTGGGGCATGAGTTTTGTCCAATCTCCTATGAGGTCCAGAGCCTTTAGAAAGACCTTCCCTCCTTTGCACACTGTCTCAGGCAGTGAAGTGGGGCTAACAGAATGGACTGCTGTGTTCTAAGCACTATGGAAGTGTTAGCTGCTACTCTTATTGTTAGCGTATAGTAAATAATGAATACCATAGTCAAGATGATATTCATTATCATAAGATGGCACCCAGTGATCCTTGTCTCCTGGTATTTGTGCCTTTGTGTAGTCTCCTCCCACTGCATACCAGGGTTGGTCCCTGTGACCAGTAGAATATGGCAGAAGTGATCATGGGCCACTCCAAGGTTAGGTCATAAAAGATATTGTGGCTTCTATATGGCTCTCTGTCTCTTGGACTTTGGGAGAAGTTGGCTGCCATGCCATAAGAACACTCAAGCAAAAAAAAAAAAAAAAAAGAACACTCAAGCAGCCTCCAGGAGAGGTCCCTGTAGGAAGGAACTGAGATCTCCAGCTAACACCTACCACAGGGAACTATTTTAGAAGTGGATCCTTCATTTCCAGTGAAGCCTTCAGAGTGACCGAAGCCCCAGCTGACATTTTGACTGCAGCTTCCTCCGAGACCCTGAGCCAGAACTACTCTGCTAAGCCACTCCTAGATTTCTGGCTCTCAGAAATTGAATAAGAAAGTAAATGTTGTTTTAAGATGCTCAGTTTGGGGTGATTTGTTACATAGCAATGCATAGTTAACACATGAATGAATATGTAAGCTCACTTTGCTCATTGAGAAACTCCTAAGAACAATTTGGTGACATAAAGCCCTAGGGTGGCCTGGTGACCCCACAACAGCCCCTTCTGTTCTCACAAACCTGGTGCCCTTTGTCCTCATGTTCTATCCCTCACAGGAAGGGAGCCAAGAGTCTAAGCCCAACTTTTCCAACAGAGGCAAGCATGGACTGCCAGCCTGGGTGTGTGCATTTGAGGGTTCAATGCTATTTGGGAGCCACGAAGAATCCACAAAGATGTGCTGTGGTT
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GCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGACAGAGATGACGGGCTATGGCCTTTTGCTGACCCAAGTCCCCCCAGCCCCAGGAAGCCCAGCCCCACCTCAGCTTCCAGATGAAATTCTCCCCTCCTCGGGACAGATTGGTAGGGTCGATGGAGATGAGGTAATTGGCTGTCTTGCTCCGTTTTCGTTTCCTGCCAGCCAAGAGGAACACCTGGGGAAAAGGGGAGACAGGTGAGAGGATGGGAAGAGAAGGTGGGAAGGGGTGGAGGTGAGCTGCAGGGAGAAATCAGGCCCGTTTGTCCCGTGGCCCCCATGCCGGATCCCTCCACACTCCCTCCTCTGCTGCCTCTCCCCACCCACCTTCTTCTCCGTGTCCAGGTGCAGGAAGTAGGAGGGATACATGCCTCGATCCATGCCCTTTTTGTCCCGGGTCAGCCGGCAGCGCACCGTGCGGCCCTGGGGGGCAGGCCGGAGCACAAACTCCCGGGGTTCGTCCACCTCCACGGGGGGAGACGGGGCCCTCTCCTCCTTCTGGGTGGGGGCAGAGGGTACATCAGCCCCAGAGCACCAGCTCCCCCGCTCCCAGCAGGTCCCAGTGCTGAGACACGGGCAGCCCGGCAGGACAACTCACCGCTTTCTGTGTGCGGAGAGAACAGAGAGGCTGGCTAGAGCAGGGGCCGCATCCCTGGAGGCGGGGAAGCCACTGCCCCTCATGCTCCCTGGCAGCCCGGCACGGCCAAGTTAGGAGGCTCTGGGGAGCTCTGTGATTTATTTTGATTCTGCTTAGCTTGTGGATAGGAGCACACACTCTGGAGCCAGACTGTCTAGGTTCAAATCCTAGTTTCACTACTAACTGTCTTCACTGTTAAGTTTCACCACACTGTAACTCAATTTTCTCATCTGAGAAGTAGGTATAGTAGGGGTGGATACCTGGGACAGACCTTACCTATGTATTTAACACACGCTTGCATAAATTCTATCAGGGTGCCATAGTTTCAAGTACTTTCGAAATATTTACTCATTTCATCCTCTTATCACCCCACTGCGATAGTCATCCCCATTGTATAGATGAAGAAACTGAGGCTTAGAGAAGTTAAGTCACTTGCCCAAGTTCACATAACTAGTAAGAGGTGGGGCTGGGGCATGAGTTTTGTCCAATCTCCTATGAGGTCCAGAGCCTTTAGAAAGACCTTCCCTCCTTTGCACACTGTCTCAGGCAGTGAAGTGGGGCTAACAGAATGGACTGCTGTGTTCTAAGCACTATGGAAGTGTTAGCTGCTACTCTTATTGTTAGCGTATAGTAAATAATGAATACCATAGTCAAGATGATATTCATTATCATAAGATGGCACCCAGTGATCCTTGTCTCCTGGTATTTGTGCCTTTGTGTAGTCTCCTCCCACTGCATACCAGGGTTGGTCCCTGTGACCAGTAGAATATGGCAGAAGTGATCATGGGCCACTCCAAGGTTAGGTCATAAAAGATATTGTGGCTTCTATATGGCTCTCTGTCTCTTGGACTTTGGGAGAAGTTGGCTGCCATGCCATAAGAACACTCAAGCAAAAAAAAAAAAAAAAAAGAACACTCAAGCAGCCTCCAGGAGAGGTCCCTGTAGGAAGGAACTGAGATCTCCAGCTAACACCTACCACAGGGAACTATTTTAGAAGTGGATCCTTCATTTCCAGTGAAGCCTTCAGAGTGACCGAAGCCCCAGCTGACATTTTGACTGCAGCTTCCTCCGAGACCCTGAGCCAGAACTACTCTGCTAAGCCACTCCTAGATTTCTGGCTCTCAGAAATTGAATAAGAAAGTAAATGTTGTTTTAAGATGCTCAGTTTGGGGTGATTTGTTACATAGCAATGCATAGTTAACACATGAATGAATATGTAAGCTCACTTTGCTCATTGAGAAACTCCTAAGAACAATTTGGTGACATAAAGCCCTAGGGTGGCCTGGTGACCCCACAACAGCCCCTTCTGTTCTCACAAACCTGGTGCCCTTTGTCCTCATGTTCTATCCCTCACAGGAAGGGAGCCAAGAGTCTAAGCCCAACTTTTCCAACAGAGGCAAGCATGGACTGCCAGCCTGGGTGTGTGCATTTGAGGGTTCAATGCTATTTGGGAGCCACGAAGAATCCACAAAGATGTGCTGTGGTT
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Task1_train_10240
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A variant was discovered on Chromosome 6, affecting TULP1 (TUB like protein 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Leber congenital amaurosis 15
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GCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGACAGAGATGACGGGCTATGGCCTTTTGCTGACCCAAGTCCCCCCAGCCCCAGGAAGCCCAGCCCCACCTCAGCTTCCCGATGAAATTCTCCCCTCCTCGGGACAGATTGGTAGGGTCGATGGAGATGAGGTAATTGGCTGTCTTGCTCCGTTTTCGTTTCCTGCCAGCCAAGAGGAACACCTGGGGAAAAGGGGAGACAGGTGAGAGGATGGGAAGAGAAGGTGGGAAGGGGTGGAGGTGAGCTGCAGGGAGAAATCAGGCCCGTTTGTCCCGTGGCCCCCATGCCGGATCCCTCCACACTCCCTCCTCTGCTGCCTCTCCCCACCCACCTTCTTCTCCGTGTCCAGGTGCAGGAAGTAGGAGGGATACATGCCTCGATCCATGCCCTTTTTGTCCCGGGTCAGCCGGCAGCGCACCGTGCGGCCCTGGGGGGCAGGCCGGAGCACAAACTCCCGGGGTTCGTCCACCTCCACGGGGGGAGACGGGGCCCTCTCCTCCTTCTGGGTGGGGGCAGAGGGTACATCAGCCCCAGAGCACCAGCTCCCCCGCTCCCAGCAGGTCCCAGTGCTGAGACACGGGCAGCCCGGCAGGACAACTCACCGCTTTCTGTGTGCGGAGAGAACAGAGAGGCTGGCTAGAGCAGGGGCCGCATCCCTGGAGGCGGGGAAGCCACTGCCCCTCATGCTCCCTGGCAGCCCGGCACGGCCAAGTTAGGAGGCTCTGGGGAGCTCTGTGATTTATTTTGATTCTGCTTAGCTTGTGGATAGGAGCACACACTCTGGAGCCAGACTGTCTAGGTTCAAATCCTAGTTTCACTACTAACTGTCTTCACTGTTAAGTTTCACCACACTGTAACTCAATTTTCTCATCTGAGAAGTAGGTATAGTAGGGGTGGATACCTGGGACAGACCTTACCTATGTATTTAACACACGCTTGCATAAATTCTATCAGGGTGCCATAGTTTCAAGTACTTTCGAAATATTTACTCATTTCATCCTCTTATCACCCCACTGCGATAGTCATCCCCATTGTATAGATGAAGAAACTGAGGCTTAGAGAAGTTAAGTCACTTGCCCAAGTTCACATAACTAGTAAGAGGTGGGGCTGGGGCATGAGTTTTGTCCAATCTCCTATGAGGTCCAGAGCCTTTAGAAAGACCTTCCCTCCTTTGCACACTGTCTCAGGCAGTGAAGTGGGGCTAACAGAATGGACTGCTGTGTTCTAAGCACTATGGAAGTGTTAGCTGCTACTCTTATTGTTAGCGTATAGTAAATAATGAATACCATAGTCAAGATGATATTCATTATCATAAGATGGCACCCAGTGATCCTTGTCTCCTGGTATTTGTGCCTTTGTGTAGTCTCCTCCCACTGCATACCAGGGTTGGTCCCTGTGACCAGTAGAATATGGCAGAAGTGATCATGGGCCACTCCAAGGTTAGGTCATAAAAGATATTGTGGCTTCTATATGGCTCTCTGTCTCTTGGACTTTGGGAGAAGTTGGCTGCCATGCCATAAGAACACTCAAGCAAAAAAAAAAAAAAAAAAGAACACTCAAGCAGCCTCCAGGAGAGGTCCCTGTAGGAAGGAACTGAGATCTCCAGCTAACACCTACCACAGGGAACTATTTTAGAAGTGGATCCTTCATTTCCAGTGAAGCCTTCAGAGTGACCGAAGCCCCAGCTGACATTTTGACTGCAGCTTCCTCCGAGACCCTGAGCCAGAACTACTCTGCTAAGCCACTCCTAGATTTCTGGCTCTCAGAAATTGAATAAGAAAGTAAATGTTGTTTTAAGATGCTCAGTTTGGGGTGATTTGTTACATAGCAATGCATAGTTAACACATGAATGAATATGTAAGCTCACTTTGCTCATTGAGAAACTCCTAAGAACAATTTGGTGACATAAAGCCCTAGGGTGGCCTGGTGACCCCACAACAGCCCCTTCTGTTCTCACAAACCTGGTGCCCTTTGTCCTCATGTTCTATCCCTCACAGGAAGGGAGCCAAGAGTCTAAGCCCAACTTTTCCAACAGAGGCAAGCATGGACTGCCAGCCTGGGTGTGTGCATTTGAGGGTTCAATGCTATTTGGGAGCCACGAAGAATCCACAAAGATGTGCTGTGGTT
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GCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGACAGAGATGACGGGCTATGGCCTTTTGCTGACCCAAGTCCCCCCAGCCCCAGGAAGCCCAGCCCCACCTCAGCTTCCAGATGAAATTCTCCCCTCCTCGGGACAGATTGGTAGGGTCGATGGAGATGAGGTAATTGGCTGTCTTGCTCCGTTTTCGTTTCCTGCCAGCCAAGAGGAACACCTGGGGAAAAGGGGAGACAGGTGAGAGGATGGGAAGAGAAGGTGGGAAGGGGTGGAGGTGAGCTGCAGGGAGAAATCAGGCCCGTTTGTCCCGTGGCCCCCATGCCGGATCCCTCCACACTCCCTCCTCTGCTGCCTCTCCCCACCCACCTTCTTCTCCGTGTCCAGGTGCAGGAAGTAGGAGGGATACATGCCTCGATCCATGCCCTTTTTGTCCCGGGTCAGCCGGCAGCGCACCGTGCGGCCCTGGGGGGCAGGCCGGAGCACAAACTCCCGGGGTTCGTCCACCTCCACGGGGGGAGACGGGGCCCTCTCCTCCTTCTGGGTGGGGGCAGAGGGTACATCAGCCCCAGAGCACCAGCTCCCCCGCTCCCAGCAGGTCCCAGTGCTGAGACACGGGCAGCCCGGCAGGACAACTCACCGCTTTCTGTGTGCGGAGAGAACAGAGAGGCTGGCTAGAGCAGGGGCCGCATCCCTGGAGGCGGGGAAGCCACTGCCCCTCATGCTCCCTGGCAGCCCGGCACGGCCAAGTTAGGAGGCTCTGGGGAGCTCTGTGATTTATTTTGATTCTGCTTAGCTTGTGGATAGGAGCACACACTCTGGAGCCAGACTGTCTAGGTTCAAATCCTAGTTTCACTACTAACTGTCTTCACTGTTAAGTTTCACCACACTGTAACTCAATTTTCTCATCTGAGAAGTAGGTATAGTAGGGGTGGATACCTGGGACAGACCTTACCTATGTATTTAACACACGCTTGCATAAATTCTATCAGGGTGCCATAGTTTCAAGTACTTTCGAAATATTTACTCATTTCATCCTCTTATCACCCCACTGCGATAGTCATCCCCATTGTATAGATGAAGAAACTGAGGCTTAGAGAAGTTAAGTCACTTGCCCAAGTTCACATAACTAGTAAGAGGTGGGGCTGGGGCATGAGTTTTGTCCAATCTCCTATGAGGTCCAGAGCCTTTAGAAAGACCTTCCCTCCTTTGCACACTGTCTCAGGCAGTGAAGTGGGGCTAACAGAATGGACTGCTGTGTTCTAAGCACTATGGAAGTGTTAGCTGCTACTCTTATTGTTAGCGTATAGTAAATAATGAATACCATAGTCAAGATGATATTCATTATCATAAGATGGCACCCAGTGATCCTTGTCTCCTGGTATTTGTGCCTTTGTGTAGTCTCCTCCCACTGCATACCAGGGTTGGTCCCTGTGACCAGTAGAATATGGCAGAAGTGATCATGGGCCACTCCAAGGTTAGGTCATAAAAGATATTGTGGCTTCTATATGGCTCTCTGTCTCTTGGACTTTGGGAGAAGTTGGCTGCCATGCCATAAGAACACTCAAGCAAAAAAAAAAAAAAAAAAGAACACTCAAGCAGCCTCCAGGAGAGGTCCCTGTAGGAAGGAACTGAGATCTCCAGCTAACACCTACCACAGGGAACTATTTTAGAAGTGGATCCTTCATTTCCAGTGAAGCCTTCAGAGTGACCGAAGCCCCAGCTGACATTTTGACTGCAGCTTCCTCCGAGACCCTGAGCCAGAACTACTCTGCTAAGCCACTCCTAGATTTCTGGCTCTCAGAAATTGAATAAGAAAGTAAATGTTGTTTTAAGATGCTCAGTTTGGGGTGATTTGTTACATAGCAATGCATAGTTAACACATGAATGAATATGTAAGCTCACTTTGCTCATTGAGAAACTCCTAAGAACAATTTGGTGACATAAAGCCCTAGGGTGGCCTGGTGACCCCACAACAGCCCCTTCTGTTCTCACAAACCTGGTGCCCTTTGTCCTCATGTTCTATCCCTCACAGGAAGGGAGCCAAGAGTCTAAGCCCAACTTTTCCAACAGAGGCAAGCATGGACTGCCAGCCTGGGTGTGTGCATTTGAGGGTTCAATGCTATTTGGGAGCCACGAAGAATCCACAAAGATGTGCTGTGGTT
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Task1_train_10241
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Mutation context: Chromosome 6, Gene TULP1 (TUB like protein 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Retinitis pigmentosa 14
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AGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGACAGAGATGACGGGCTATGGCCTTTTGCTGACCCAAGTCCCCCCAGCCCCAGGAAGCCCAGCCCCACCTCAGCTTCCCGATGAAATTCTCCCCTCCTCGGGACAGATTGGTAGGGTCGATGGAGATGAGGTAATTGGCTGTCTTGCTCCGTTTTCGTTTCCTGCCAGCCAAGAGGAACACCTGGGGAAAAGGGGAGACAGGTGAGAGGATGGGAAGAGAAGGTGGGAAGGGGTGGAGGTGAGCTGCAGGGAGAAATCAGGCCCGTTTGTCCCGTGGCCCCCATGCCGGATCCCTCCACACTCCCTCCTCTGCTGCCTCTCCCCACCCACCTTCTTCTCCGTGTCCAGGTGCAGGAAGTAGGAGGGATACATGCCTCGATCCATGCCCTTTTTGTCCCGGGTCAGCCGGCAGCGCACCGTGCGGCCCTGGGGGGCAGGCCGGAGCACAAACTCCCGGGGTTCGTCCACCTCCACGGGGGGAGACGGGGCCCTCTCCTCCTTCTGGGTGGGGGCAGAGGGTACATCAGCCCCAGAGCACCAGCTCCCCCGCTCCCAGCAGGTCCCAGTGCTGAGACACGGGCAGCCCGGCAGGACAACTCACCGCTTTCTGTGTGCGGAGAGAACAGAGAGGCTGGCTAGAGCAGGGGCCGCATCCCTGGAGGCGGGGAAGCCACTGCCCCTCATGCTCCCTGGCAGCCCGGCACGGCCAAGTTAGGAGGCTCTGGGGAGCTCTGTGATTTATTTTGATTCTGCTTAGCTTGTGGATAGGAGCACACACTCTGGAGCCAGACTGTCTAGGTTCAAATCCTAGTTTCACTACTAACTGTCTTCACTGTTAAGTTTCACCACACTGTAACTCAATTTTCTCATCTGAGAAGTAGGTATAGTAGGGGTGGATACCTGGGACAGACCTTACCTATGTATTTAACACACGCTTGCATAAATTCTATCAGGGTGCCATAGTTTCAAGTACTTTCGAAATATTTACTCATTTCATCCTCTTATCACCCCACTGCGATAGTCATCCCCATTGTATAGATGAAGAAACTGAGGCTTAGAGAAGTTAAGTCACTTGCCCAAGTTCACATAACTAGTAAGAGGTGGGGCTGGGGCATGAGTTTTGTCCAATCTCCTATGAGGTCCAGAGCCTTTAGAAAGACCTTCCCTCCTTTGCACACTGTCTCAGGCAGTGAAGTGGGGCTAACAGAATGGACTGCTGTGTTCTAAGCACTATGGAAGTGTTAGCTGCTACTCTTATTGTTAGCGTATAGTAAATAATGAATACCATAGTCAAGATGATATTCATTATCATAAGATGGCACCCAGTGATCCTTGTCTCCTGGTATTTGTGCCTTTGTGTAGTCTCCTCCCACTGCATACCAGGGTTGGTCCCTGTGACCAGTAGAATATGGCAGAAGTGATCATGGGCCACTCCAAGGTTAGGTCATAAAAGATATTGTGGCTTCTATATGGCTCTCTGTCTCTTGGACTTTGGGAGAAGTTGGCTGCCATGCCATAAGAACACTCAAGCAAAAAAAAAAAAAAAAAAGAACACTCAAGCAGCCTCCAGGAGAGGTCCCTGTAGGAAGGAACTGAGATCTCCAGCTAACACCTACCACAGGGAACTATTTTAGAAGTGGATCCTTCATTTCCAGTGAAGCCTTCAGAGTGACCGAAGCCCCAGCTGACATTTTGACTGCAGCTTCCTCCGAGACCCTGAGCCAGAACTACTCTGCTAAGCCACTCCTAGATTTCTGGCTCTCAGAAATTGAATAAGAAAGTAAATGTTGTTTTAAGATGCTCAGTTTGGGGTGATTTGTTACATAGCAATGCATAGTTAACACATGAATGAATATGTAAGCTCACTTTGCTCATTGAGAAACTCCTAAGAACAATTTGGTGACATAAAGCCCTAGGGTGGCCTGGTGACCCCACAACAGCCCCTTCTGTTCTCACAAACCTGGTGCCCTTTGTCCTCATGTTCTATCCCTCACAGGAAGGGAGCCAAGAGTCTAAGCCCAACTTTTCCAACAGAGGCAAGCATGGACTGCCAGCCTGGGTGTGTGCATTTGAGGGTTCAATGCTATTTGGGAGCCACGAAGAATCCACAAAGATGTGCTGTGGTTGGCCATTTTTTAAAATTTATTTTTTATTTTTTTGAG
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AGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGACAGAGATGACGGGCTATGGCCTTTTGCTGACCCAAGTCCCCCCAGCCCCAGGAAGCCCAGCCCCACCTCAGCTTCCCGATGAAATTCTCCCCTCCTCGGGACAGATTGGTAGTGTCGATGGAGATGAGGTAATTGGCTGTCTTGCTCCGTTTTCGTTTCCTGCCAGCCAAGAGGAACACCTGGGGAAAAGGGGAGACAGGTGAGAGGATGGGAAGAGAAGGTGGGAAGGGGTGGAGGTGAGCTGCAGGGAGAAATCAGGCCCGTTTGTCCCGTGGCCCCCATGCCGGATCCCTCCACACTCCCTCCTCTGCTGCCTCTCCCCACCCACCTTCTTCTCCGTGTCCAGGTGCAGGAAGTAGGAGGGATACATGCCTCGATCCATGCCCTTTTTGTCCCGGGTCAGCCGGCAGCGCACCGTGCGGCCCTGGGGGGCAGGCCGGAGCACAAACTCCCGGGGTTCGTCCACCTCCACGGGGGGAGACGGGGCCCTCTCCTCCTTCTGGGTGGGGGCAGAGGGTACATCAGCCCCAGAGCACCAGCTCCCCCGCTCCCAGCAGGTCCCAGTGCTGAGACACGGGCAGCCCGGCAGGACAACTCACCGCTTTCTGTGTGCGGAGAGAACAGAGAGGCTGGCTAGAGCAGGGGCCGCATCCCTGGAGGCGGGGAAGCCACTGCCCCTCATGCTCCCTGGCAGCCCGGCACGGCCAAGTTAGGAGGCTCTGGGGAGCTCTGTGATTTATTTTGATTCTGCTTAGCTTGTGGATAGGAGCACACACTCTGGAGCCAGACTGTCTAGGTTCAAATCCTAGTTTCACTACTAACTGTCTTCACTGTTAAGTTTCACCACACTGTAACTCAATTTTCTCATCTGAGAAGTAGGTATAGTAGGGGTGGATACCTGGGACAGACCTTACCTATGTATTTAACACACGCTTGCATAAATTCTATCAGGGTGCCATAGTTTCAAGTACTTTCGAAATATTTACTCATTTCATCCTCTTATCACCCCACTGCGATAGTCATCCCCATTGTATAGATGAAGAAACTGAGGCTTAGAGAAGTTAAGTCACTTGCCCAAGTTCACATAACTAGTAAGAGGTGGGGCTGGGGCATGAGTTTTGTCCAATCTCCTATGAGGTCCAGAGCCTTTAGAAAGACCTTCCCTCCTTTGCACACTGTCTCAGGCAGTGAAGTGGGGCTAACAGAATGGACTGCTGTGTTCTAAGCACTATGGAAGTGTTAGCTGCTACTCTTATTGTTAGCGTATAGTAAATAATGAATACCATAGTCAAGATGATATTCATTATCATAAGATGGCACCCAGTGATCCTTGTCTCCTGGTATTTGTGCCTTTGTGTAGTCTCCTCCCACTGCATACCAGGGTTGGTCCCTGTGACCAGTAGAATATGGCAGAAGTGATCATGGGCCACTCCAAGGTTAGGTCATAAAAGATATTGTGGCTTCTATATGGCTCTCTGTCTCTTGGACTTTGGGAGAAGTTGGCTGCCATGCCATAAGAACACTCAAGCAAAAAAAAAAAAAAAAAAGAACACTCAAGCAGCCTCCAGGAGAGGTCCCTGTAGGAAGGAACTGAGATCTCCAGCTAACACCTACCACAGGGAACTATTTTAGAAGTGGATCCTTCATTTCCAGTGAAGCCTTCAGAGTGACCGAAGCCCCAGCTGACATTTTGACTGCAGCTTCCTCCGAGACCCTGAGCCAGAACTACTCTGCTAAGCCACTCCTAGATTTCTGGCTCTCAGAAATTGAATAAGAAAGTAAATGTTGTTTTAAGATGCTCAGTTTGGGGTGATTTGTTACATAGCAATGCATAGTTAACACATGAATGAATATGTAAGCTCACTTTGCTCATTGAGAAACTCCTAAGAACAATTTGGTGACATAAAGCCCTAGGGTGGCCTGGTGACCCCACAACAGCCCCTTCTGTTCTCACAAACCTGGTGCCCTTTGTCCTCATGTTCTATCCCTCACAGGAAGGGAGCCAAGAGTCTAAGCCCAACTTTTCCAACAGAGGCAAGCATGGACTGCCAGCCTGGGTGTGTGCATTTGAGGGTTCAATGCTATTTGGGAGCCACGAAGAATCCACAAAGATGTGCTGTGGTTGGCCATTTTTTAAAATTTATTTTTTATTTTTTTGAG
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Task1_train_10242
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A mutation on Chromosome 6 affecting TULP1 (TUB like protein 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Retinal dystrophy
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CTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGACAGAGATGACGGGCTATGGCCTTTTGCTGACCCAAGTCCCCCCAGCCCCAGGAAGCCCAGCCCCACCTCAGCTTCCCGATGAAATTCTCCCCTCCTCGGGACAGATTGGTAGGGTCGATGGAGATGAGGTAATTGGCTGTCTTGCTCCGTTTTCGTTTCCTGCCAGCCAAGAGGAACACCTGGGGAAAAGGGGAGACAGGTGAGAGGATGGGAAGAGAAGGTGGGAAGGGGTGGAGGTGAGCTGCAGGGAGAAATCAGGCCCGTTTGTCCCGTGGCCCCCATGCCGGATCCCTCCACACTCCCTCCTCTGCTGCCTCTCCCCACCCACCTTCTTCTCCGTGTCCAGGTGCAGGAAGTAGGAGGGATACATGCCTCGATCCATGCCCTTTTTGTCCCGGGTCAGCCGGCAGCGCACCGTGCGGCCCTGGGGGGCAGGCCGGAGCACAAACTCCCGGGGTTCGTCCACCTCCACGGGGGGAGACGGGGCCCTCTCCTCCTTCTGGGTGGGGGCAGAGGGTACATCAGCCCCAGAGCACCAGCTCCCCCGCTCCCAGCAGGTCCCAGTGCTGAGACACGGGCAGCCCGGCAGGACAACTCACCGCTTTCTGTGTGCGGAGAGAACAGAGAGGCTGGCTAGAGCAGGGGCCGCATCCCTGGAGGCGGGGAAGCCACTGCCCCTCATGCTCCCTGGCAGCCCGGCACGGCCAAGTTAGGAGGCTCTGGGGAGCTCTGTGATTTATTTTGATTCTGCTTAGCTTGTGGATAGGAGCACACACTCTGGAGCCAGACTGTCTAGGTTCAAATCCTAGTTTCACTACTAACTGTCTTCACTGTTAAGTTTCACCACACTGTAACTCAATTTTCTCATCTGAGAAGTAGGTATAGTAGGGGTGGATACCTGGGACAGACCTTACCTATGTATTTAACACACGCTTGCATAAATTCTATCAGGGTGCCATAGTTTCAAGTACTTTCGAAATATTTACTCATTTCATCCTCTTATCACCCCACTGCGATAGTCATCCCCATTGTATAGATGAAGAAACTGAGGCTTAGAGAAGTTAAGTCACTTGCCCAAGTTCACATAACTAGTAAGAGGTGGGGCTGGGGCATGAGTTTTGTCCAATCTCCTATGAGGTCCAGAGCCTTTAGAAAGACCTTCCCTCCTTTGCACACTGTCTCAGGCAGTGAAGTGGGGCTAACAGAATGGACTGCTGTGTTCTAAGCACTATGGAAGTGTTAGCTGCTACTCTTATTGTTAGCGTATAGTAAATAATGAATACCATAGTCAAGATGATATTCATTATCATAAGATGGCACCCAGTGATCCTTGTCTCCTGGTATTTGTGCCTTTGTGTAGTCTCCTCCCACTGCATACCAGGGTTGGTCCCTGTGACCAGTAGAATATGGCAGAAGTGATCATGGGCCACTCCAAGGTTAGGTCATAAAAGATATTGTGGCTTCTATATGGCTCTCTGTCTCTTGGACTTTGGGAGAAGTTGGCTGCCATGCCATAAGAACACTCAAGCAAAAAAAAAAAAAAAAAAGAACACTCAAGCAGCCTCCAGGAGAGGTCCCTGTAGGAAGGAACTGAGATCTCCAGCTAACACCTACCACAGGGAACTATTTTAGAAGTGGATCCTTCATTTCCAGTGAAGCCTTCAGAGTGACCGAAGCCCCAGCTGACATTTTGACTGCAGCTTCCTCCGAGACCCTGAGCCAGAACTACTCTGCTAAGCCACTCCTAGATTTCTGGCTCTCAGAAATTGAATAAGAAAGTAAATGTTGTTTTAAGATGCTCAGTTTGGGGTGATTTGTTACATAGCAATGCATAGTTAACACATGAATGAATATGTAAGCTCACTTTGCTCATTGAGAAACTCCTAAGAACAATTTGGTGACATAAAGCCCTAGGGTGGCCTGGTGACCCCACAACAGCCCCTTCTGTTCTCACAAACCTGGTGCCCTTTGTCCTCATGTTCTATCCCTCACAGGAAGGGAGCCAAGAGTCTAAGCCCAACTTTTCCAACAGAGGCAAGCATGGACTGCCAGCCTGGGTGTGTGCATTTGAGGGTTCAATGCTATTTGGGAGCCACGAAGAATCCACAAAGATGTGCTGTGGTTGGCCATTTTTTAAAATTTATTTTTTATTTTTTTGAGATGGAGCCTCGCTCTTGTT
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CTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGACAGAGATGACGGGCTATGGCCTTTTGCTGACCCAAGTCCCCCCAGCCCCAGGAAGCCCAGCCCCACCTCAGCTTCCCGATGAAATTCTCCCCTCCTCGGGACAGATTGGTAGGGTCGATGGAGATGAGGTACTTGGCTGTCTTGCTCCGTTTTCGTTTCCTGCCAGCCAAGAGGAACACCTGGGGAAAAGGGGAGACAGGTGAGAGGATGGGAAGAGAAGGTGGGAAGGGGTGGAGGTGAGCTGCAGGGAGAAATCAGGCCCGTTTGTCCCGTGGCCCCCATGCCGGATCCCTCCACACTCCCTCCTCTGCTGCCTCTCCCCACCCACCTTCTTCTCCGTGTCCAGGTGCAGGAAGTAGGAGGGATACATGCCTCGATCCATGCCCTTTTTGTCCCGGGTCAGCCGGCAGCGCACCGTGCGGCCCTGGGGGGCAGGCCGGAGCACAAACTCCCGGGGTTCGTCCACCTCCACGGGGGGAGACGGGGCCCTCTCCTCCTTCTGGGTGGGGGCAGAGGGTACATCAGCCCCAGAGCACCAGCTCCCCCGCTCCCAGCAGGTCCCAGTGCTGAGACACGGGCAGCCCGGCAGGACAACTCACCGCTTTCTGTGTGCGGAGAGAACAGAGAGGCTGGCTAGAGCAGGGGCCGCATCCCTGGAGGCGGGGAAGCCACTGCCCCTCATGCTCCCTGGCAGCCCGGCACGGCCAAGTTAGGAGGCTCTGGGGAGCTCTGTGATTTATTTTGATTCTGCTTAGCTTGTGGATAGGAGCACACACTCTGGAGCCAGACTGTCTAGGTTCAAATCCTAGTTTCACTACTAACTGTCTTCACTGTTAAGTTTCACCACACTGTAACTCAATTTTCTCATCTGAGAAGTAGGTATAGTAGGGGTGGATACCTGGGACAGACCTTACCTATGTATTTAACACACGCTTGCATAAATTCTATCAGGGTGCCATAGTTTCAAGTACTTTCGAAATATTTACTCATTTCATCCTCTTATCACCCCACTGCGATAGTCATCCCCATTGTATAGATGAAGAAACTGAGGCTTAGAGAAGTTAAGTCACTTGCCCAAGTTCACATAACTAGTAAGAGGTGGGGCTGGGGCATGAGTTTTGTCCAATCTCCTATGAGGTCCAGAGCCTTTAGAAAGACCTTCCCTCCTTTGCACACTGTCTCAGGCAGTGAAGTGGGGCTAACAGAATGGACTGCTGTGTTCTAAGCACTATGGAAGTGTTAGCTGCTACTCTTATTGTTAGCGTATAGTAAATAATGAATACCATAGTCAAGATGATATTCATTATCATAAGATGGCACCCAGTGATCCTTGTCTCCTGGTATTTGTGCCTTTGTGTAGTCTCCTCCCACTGCATACCAGGGTTGGTCCCTGTGACCAGTAGAATATGGCAGAAGTGATCATGGGCCACTCCAAGGTTAGGTCATAAAAGATATTGTGGCTTCTATATGGCTCTCTGTCTCTTGGACTTTGGGAGAAGTTGGCTGCCATGCCATAAGAACACTCAAGCAAAAAAAAAAAAAAAAAAGAACACTCAAGCAGCCTCCAGGAGAGGTCCCTGTAGGAAGGAACTGAGATCTCCAGCTAACACCTACCACAGGGAACTATTTTAGAAGTGGATCCTTCATTTCCAGTGAAGCCTTCAGAGTGACCGAAGCCCCAGCTGACATTTTGACTGCAGCTTCCTCCGAGACCCTGAGCCAGAACTACTCTGCTAAGCCACTCCTAGATTTCTGGCTCTCAGAAATTGAATAAGAAAGTAAATGTTGTTTTAAGATGCTCAGTTTGGGGTGATTTGTTACATAGCAATGCATAGTTAACACATGAATGAATATGTAAGCTCACTTTGCTCATTGAGAAACTCCTAAGAACAATTTGGTGACATAAAGCCCTAGGGTGGCCTGGTGACCCCACAACAGCCCCTTCTGTTCTCACAAACCTGGTGCCCTTTGTCCTCATGTTCTATCCCTCACAGGAAGGGAGCCAAGAGTCTAAGCCCAACTTTTCCAACAGAGGCAAGCATGGACTGCCAGCCTGGGTGTGTGCATTTGAGGGTTCAATGCTATTTGGGAGCCACGAAGAATCCACAAAGATGTGCTGTGGTTGGCCATTTTTTAAAATTTATTTTTTATTTTTTTGAGATGGAGCCTCGCTCTTGTT
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Task1_train_10243
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With a mutation on Chromosome 6 in gene TULP1 (TUB like protein 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Retinitis pigmentosa 14
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CTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGACAGAGATGACGGGCTATGGCCTTTTGCTGACCCAAGTCCCCCCAGCCCCAGGAAGCCCAGCCCCACCTCAGCTTCCCGATGAAATTCTCCCCTCCTCGGGACAGATTGGTAGGGTCGATGGAGATGAGGTAATTGGCTGTCTTGCTCCGTTTTCGTTTCCTGCCAGCCAAGAGGAACACCTGGGGAAAAGGGGAGACAGGTGAGAGGATGGGAAGAGAAGGTGGGAAGGGGTGGAGGTGAGCTGCAGGGAGAAATCAGGCCCGTTTGTCCCGTGGCCCCCATGCCGGATCCCTCCACACTCCCTCCTCTGCTGCCTCTCCCCACCCACCTTCTTCTCCGTGTCCAGGTGCAGGAAGTAGGAGGGATACATGCCTCGATCCATGCCCTTTTTGTCCCGGGTCAGCCGGCAGCGCACCGTGCGGCCCTGGGGGGCAGGCCGGAGCACAAACTCCCGGGGTTCGTCCACCTCCACGGGGGGAGACGGGGCCCTCTCCTCCTTCTGGGTGGGGGCAGAGGGTACATCAGCCCCAGAGCACCAGCTCCCCCGCTCCCAGCAGGTCCCAGTGCTGAGACACGGGCAGCCCGGCAGGACAACTCACCGCTTTCTGTGTGCGGAGAGAACAGAGAGGCTGGCTAGAGCAGGGGCCGCATCCCTGGAGGCGGGGAAGCCACTGCCCCTCATGCTCCCTGGCAGCCCGGCACGGCCAAGTTAGGAGGCTCTGGGGAGCTCTGTGATTTATTTTGATTCTGCTTAGCTTGTGGATAGGAGCACACACTCTGGAGCCAGACTGTCTAGGTTCAAATCCTAGTTTCACTACTAACTGTCTTCACTGTTAAGTTTCACCACACTGTAACTCAATTTTCTCATCTGAGAAGTAGGTATAGTAGGGGTGGATACCTGGGACAGACCTTACCTATGTATTTAACACACGCTTGCATAAATTCTATCAGGGTGCCATAGTTTCAAGTACTTTCGAAATATTTACTCATTTCATCCTCTTATCACCCCACTGCGATAGTCATCCCCATTGTATAGATGAAGAAACTGAGGCTTAGAGAAGTTAAGTCACTTGCCCAAGTTCACATAACTAGTAAGAGGTGGGGCTGGGGCATGAGTTTTGTCCAATCTCCTATGAGGTCCAGAGCCTTTAGAAAGACCTTCCCTCCTTTGCACACTGTCTCAGGCAGTGAAGTGGGGCTAACAGAATGGACTGCTGTGTTCTAAGCACTATGGAAGTGTTAGCTGCTACTCTTATTGTTAGCGTATAGTAAATAATGAATACCATAGTCAAGATGATATTCATTATCATAAGATGGCACCCAGTGATCCTTGTCTCCTGGTATTTGTGCCTTTGTGTAGTCTCCTCCCACTGCATACCAGGGTTGGTCCCTGTGACCAGTAGAATATGGCAGAAGTGATCATGGGCCACTCCAAGGTTAGGTCATAAAAGATATTGTGGCTTCTATATGGCTCTCTGTCTCTTGGACTTTGGGAGAAGTTGGCTGCCATGCCATAAGAACACTCAAGCAAAAAAAAAAAAAAAAAAGAACACTCAAGCAGCCTCCAGGAGAGGTCCCTGTAGGAAGGAACTGAGATCTCCAGCTAACACCTACCACAGGGAACTATTTTAGAAGTGGATCCTTCATTTCCAGTGAAGCCTTCAGAGTGACCGAAGCCCCAGCTGACATTTTGACTGCAGCTTCCTCCGAGACCCTGAGCCAGAACTACTCTGCTAAGCCACTCCTAGATTTCTGGCTCTCAGAAATTGAATAAGAAAGTAAATGTTGTTTTAAGATGCTCAGTTTGGGGTGATTTGTTACATAGCAATGCATAGTTAACACATGAATGAATATGTAAGCTCACTTTGCTCATTGAGAAACTCCTAAGAACAATTTGGTGACATAAAGCCCTAGGGTGGCCTGGTGACCCCACAACAGCCCCTTCTGTTCTCACAAACCTGGTGCCCTTTGTCCTCATGTTCTATCCCTCACAGGAAGGGAGCCAAGAGTCTAAGCCCAACTTTTCCAACAGAGGCAAGCATGGACTGCCAGCCTGGGTGTGTGCATTTGAGGGTTCAATGCTATTTGGGAGCCACGAAGAATCCACAAAGATGTGCTGTGGTTGGCCATTTTTTAAAATTTATTTTTTATTTTTTTGAGATGGAGCCTCGCTCTTGTT
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CTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGACAGAGATGACGGGCTATGGCCTTTTGCTGACCCAAGTCCCCCCAGCCCCAGGAAGCCCAGCCCCACCTCAGCTTCCCGATGAAATTCTCCCCTCCTCGGGACAGATTGGTAGGGTCGATGGAGATGAGGTACTTGGCTGTCTTGCTCCGTTTTCGTTTCCTGCCAGCCAAGAGGAACACCTGGGGAAAAGGGGAGACAGGTGAGAGGATGGGAAGAGAAGGTGGGAAGGGGTGGAGGTGAGCTGCAGGGAGAAATCAGGCCCGTTTGTCCCGTGGCCCCCATGCCGGATCCCTCCACACTCCCTCCTCTGCTGCCTCTCCCCACCCACCTTCTTCTCCGTGTCCAGGTGCAGGAAGTAGGAGGGATACATGCCTCGATCCATGCCCTTTTTGTCCCGGGTCAGCCGGCAGCGCACCGTGCGGCCCTGGGGGGCAGGCCGGAGCACAAACTCCCGGGGTTCGTCCACCTCCACGGGGGGAGACGGGGCCCTCTCCTCCTTCTGGGTGGGGGCAGAGGGTACATCAGCCCCAGAGCACCAGCTCCCCCGCTCCCAGCAGGTCCCAGTGCTGAGACACGGGCAGCCCGGCAGGACAACTCACCGCTTTCTGTGTGCGGAGAGAACAGAGAGGCTGGCTAGAGCAGGGGCCGCATCCCTGGAGGCGGGGAAGCCACTGCCCCTCATGCTCCCTGGCAGCCCGGCACGGCCAAGTTAGGAGGCTCTGGGGAGCTCTGTGATTTATTTTGATTCTGCTTAGCTTGTGGATAGGAGCACACACTCTGGAGCCAGACTGTCTAGGTTCAAATCCTAGTTTCACTACTAACTGTCTTCACTGTTAAGTTTCACCACACTGTAACTCAATTTTCTCATCTGAGAAGTAGGTATAGTAGGGGTGGATACCTGGGACAGACCTTACCTATGTATTTAACACACGCTTGCATAAATTCTATCAGGGTGCCATAGTTTCAAGTACTTTCGAAATATTTACTCATTTCATCCTCTTATCACCCCACTGCGATAGTCATCCCCATTGTATAGATGAAGAAACTGAGGCTTAGAGAAGTTAAGTCACTTGCCCAAGTTCACATAACTAGTAAGAGGTGGGGCTGGGGCATGAGTTTTGTCCAATCTCCTATGAGGTCCAGAGCCTTTAGAAAGACCTTCCCTCCTTTGCACACTGTCTCAGGCAGTGAAGTGGGGCTAACAGAATGGACTGCTGTGTTCTAAGCACTATGGAAGTGTTAGCTGCTACTCTTATTGTTAGCGTATAGTAAATAATGAATACCATAGTCAAGATGATATTCATTATCATAAGATGGCACCCAGTGATCCTTGTCTCCTGGTATTTGTGCCTTTGTGTAGTCTCCTCCCACTGCATACCAGGGTTGGTCCCTGTGACCAGTAGAATATGGCAGAAGTGATCATGGGCCACTCCAAGGTTAGGTCATAAAAGATATTGTGGCTTCTATATGGCTCTCTGTCTCTTGGACTTTGGGAGAAGTTGGCTGCCATGCCATAAGAACACTCAAGCAAAAAAAAAAAAAAAAAAGAACACTCAAGCAGCCTCCAGGAGAGGTCCCTGTAGGAAGGAACTGAGATCTCCAGCTAACACCTACCACAGGGAACTATTTTAGAAGTGGATCCTTCATTTCCAGTGAAGCCTTCAGAGTGACCGAAGCCCCAGCTGACATTTTGACTGCAGCTTCCTCCGAGACCCTGAGCCAGAACTACTCTGCTAAGCCACTCCTAGATTTCTGGCTCTCAGAAATTGAATAAGAAAGTAAATGTTGTTTTAAGATGCTCAGTTTGGGGTGATTTGTTACATAGCAATGCATAGTTAACACATGAATGAATATGTAAGCTCACTTTGCTCATTGAGAAACTCCTAAGAACAATTTGGTGACATAAAGCCCTAGGGTGGCCTGGTGACCCCACAACAGCCCCTTCTGTTCTCACAAACCTGGTGCCCTTTGTCCTCATGTTCTATCCCTCACAGGAAGGGAGCCAAGAGTCTAAGCCCAACTTTTCCAACAGAGGCAAGCATGGACTGCCAGCCTGGGTGTGTGCATTTGAGGGTTCAATGCTATTTGGGAGCCACGAAGAATCCACAAAGATGTGCTGTGGTTGGCCATTTTTTAAAATTTATTTTTTATTTTTTTGAGATGGAGCCTCGCTCTTGTT
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Task1_train_10244
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Here is a variant affecting TULP1 (TUB like protein 1) on Chromosome 6. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Leber congenital amaurosis 15
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CTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGACAGAGATGACGGGCTATGGCCTTTTGCTGACCCAAGTCCCCCCAGCCCCAGGAAGCCCAGCCCCACCTCAGCTTCCCGATGAAATTCTCCCCTCCTCGGGACAGATTGGTAGGGTCGATGGAGATGAGGTAATTGGCTGTCTTGCTCCGTTTTCGTTTCCTGCCAGCCAAGAGGAACACCTGGGGAAAAGGGGAGACAGGTGAGAGGATGGGAAGAGAAGGTGGGAAGGGGTGGAGGTGAGCTGCAGGGAGAAATCAGGCCCGTTTGTCCCGTGGCCCCCATGCCGGATCCCTCCACACTCCCTCCTCTGCTGCCTCTCCCCACCCACCTTCTTCTCCGTGTCCAGGTGCAGGAAGTAGGAGGGATACATGCCTCGATCCATGCCCTTTTTGTCCCGGGTCAGCCGGCAGCGCACCGTGCGGCCCTGGGGGGCAGGCCGGAGCACAAACTCCCGGGGTTCGTCCACCTCCACGGGGGGAGACGGGGCCCTCTCCTCCTTCTGGGTGGGGGCAGAGGGTACATCAGCCCCAGAGCACCAGCTCCCCCGCTCCCAGCAGGTCCCAGTGCTGAGACACGGGCAGCCCGGCAGGACAACTCACCGCTTTCTGTGTGCGGAGAGAACAGAGAGGCTGGCTAGAGCAGGGGCCGCATCCCTGGAGGCGGGGAAGCCACTGCCCCTCATGCTCCCTGGCAGCCCGGCACGGCCAAGTTAGGAGGCTCTGGGGAGCTCTGTGATTTATTTTGATTCTGCTTAGCTTGTGGATAGGAGCACACACTCTGGAGCCAGACTGTCTAGGTTCAAATCCTAGTTTCACTACTAACTGTCTTCACTGTTAAGTTTCACCACACTGTAACTCAATTTTCTCATCTGAGAAGTAGGTATAGTAGGGGTGGATACCTGGGACAGACCTTACCTATGTATTTAACACACGCTTGCATAAATTCTATCAGGGTGCCATAGTTTCAAGTACTTTCGAAATATTTACTCATTTCATCCTCTTATCACCCCACTGCGATAGTCATCCCCATTGTATAGATGAAGAAACTGAGGCTTAGAGAAGTTAAGTCACTTGCCCAAGTTCACATAACTAGTAAGAGGTGGGGCTGGGGCATGAGTTTTGTCCAATCTCCTATGAGGTCCAGAGCCTTTAGAAAGACCTTCCCTCCTTTGCACACTGTCTCAGGCAGTGAAGTGGGGCTAACAGAATGGACTGCTGTGTTCTAAGCACTATGGAAGTGTTAGCTGCTACTCTTATTGTTAGCGTATAGTAAATAATGAATACCATAGTCAAGATGATATTCATTATCATAAGATGGCACCCAGTGATCCTTGTCTCCTGGTATTTGTGCCTTTGTGTAGTCTCCTCCCACTGCATACCAGGGTTGGTCCCTGTGACCAGTAGAATATGGCAGAAGTGATCATGGGCCACTCCAAGGTTAGGTCATAAAAGATATTGTGGCTTCTATATGGCTCTCTGTCTCTTGGACTTTGGGAGAAGTTGGCTGCCATGCCATAAGAACACTCAAGCAAAAAAAAAAAAAAAAAAGAACACTCAAGCAGCCTCCAGGAGAGGTCCCTGTAGGAAGGAACTGAGATCTCCAGCTAACACCTACCACAGGGAACTATTTTAGAAGTGGATCCTTCATTTCCAGTGAAGCCTTCAGAGTGACCGAAGCCCCAGCTGACATTTTGACTGCAGCTTCCTCCGAGACCCTGAGCCAGAACTACTCTGCTAAGCCACTCCTAGATTTCTGGCTCTCAGAAATTGAATAAGAAAGTAAATGTTGTTTTAAGATGCTCAGTTTGGGGTGATTTGTTACATAGCAATGCATAGTTAACACATGAATGAATATGTAAGCTCACTTTGCTCATTGAGAAACTCCTAAGAACAATTTGGTGACATAAAGCCCTAGGGTGGCCTGGTGACCCCACAACAGCCCCTTCTGTTCTCACAAACCTGGTGCCCTTTGTCCTCATGTTCTATCCCTCACAGGAAGGGAGCCAAGAGTCTAAGCCCAACTTTTCCAACAGAGGCAAGCATGGACTGCCAGCCTGGGTGTGTGCATTTGAGGGTTCAATGCTATTTGGGAGCCACGAAGAATCCACAAAGATGTGCTGTGGTTGGCCATTTTTTAAAATTTATTTTTTATTTTTTTGAGATGGAGCCTCGCTCTTGTT
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CTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAGCTGTGAGATCTTAGGCAAGGTATTTAAACTCTCTGAGCCCCAACTTCCCCATCTATAAAATGGGCTGAGCAACAGCATTTCCCTCATTTGGACAATAAGAGGATTGAATGGGTTAACATTTGGAAGTGACTTTTTTTTTCTTTATTTTTTTCAGACTGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGGCCTGCCAGCACGCTGGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAGCCAGGGTGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCACGCCTGGCCTGGAAGTGACTTAGAATCACACCTGACACATAAATAGGCCTTATAAAAGTTTTGTTAAATACATACATTTATTTATTCATTTATTTTTGAGGCAGGGTCTTGGTCTGTCACCCAGGCTGGAAGTGCAGTGGCATGATCCCAGCTCACTGCAACCTCCCCGTCTTGGGTTCAAGAGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTCCAGGTGCATGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATTAGCCACTGTGCCCAGCCTAAATACATACATTTAGGAAATAAGGCCTGACTCAGGCATCCCCTTCCTTCAGCTCTCAGATTTGTGGTGAGGATTAGATGAGATGTATGGGAAGACAGCACAGGATAGTGCTGAATATATGTTCATTCACTTGATCAGTAAATACTTGTTGAGTAGCTAATATGTGTTCAGTGCTAGGAATTCAGCCCTAAACAAGGCAGGCACAGTGCCTGCCCTCGTGGAACTTATGCCCTGCTCCAAGTGAGGCCCTGGGCTGGCAGCAGTGTGGGCATCGCCTGGGTGCTCATTAAAAATGTAGACTCCCGGGCCCACCCCACACACTCAACCATTTTAACAAGCTCCCCACATGATCTATGTACATCAAAGCGAGAGGCCCTAGGCTAGGGGACGTTTCCAGGGTGCCCACTGTGGTGGGTGCTCTACCAGGCACAGCAGGACAGAGATGACGGGCTATGGCCTTTTGCTGACCCAAGTCCCCCCAGCCCCAGGAAGCCCAGCCCCACCTCAGCTTCCCGATGAAATTCTCCCCTCCTCGGGACAGATTGGTAGGGTCGATGGAGATGAGGTACTTGGCTGTCTTGCTCCGTTTTCGTTTCCTGCCAGCCAAGAGGAACACCTGGGGAAAAGGGGAGACAGGTGAGAGGATGGGAAGAGAAGGTGGGAAGGGGTGGAGGTGAGCTGCAGGGAGAAATCAGGCCCGTTTGTCCCGTGGCCCCCATGCCGGATCCCTCCACACTCCCTCCTCTGCTGCCTCTCCCCACCCACCTTCTTCTCCGTGTCCAGGTGCAGGAAGTAGGAGGGATACATGCCTCGATCCATGCCCTTTTTGTCCCGGGTCAGCCGGCAGCGCACCGTGCGGCCCTGGGGGGCAGGCCGGAGCACAAACTCCCGGGGTTCGTCCACCTCCACGGGGGGAGACGGGGCCCTCTCCTCCTTCTGGGTGGGGGCAGAGGGTACATCAGCCCCAGAGCACCAGCTCCCCCGCTCCCAGCAGGTCCCAGTGCTGAGACACGGGCAGCCCGGCAGGACAACTCACCGCTTTCTGTGTGCGGAGAGAACAGAGAGGCTGGCTAGAGCAGGGGCCGCATCCCTGGAGGCGGGGAAGCCACTGCCCCTCATGCTCCCTGGCAGCCCGGCACGGCCAAGTTAGGAGGCTCTGGGGAGCTCTGTGATTTATTTTGATTCTGCTTAGCTTGTGGATAGGAGCACACACTCTGGAGCCAGACTGTCTAGGTTCAAATCCTAGTTTCACTACTAACTGTCTTCACTGTTAAGTTTCACCACACTGTAACTCAATTTTCTCATCTGAGAAGTAGGTATAGTAGGGGTGGATACCTGGGACAGACCTTACCTATGTATTTAACACACGCTTGCATAAATTCTATCAGGGTGCCATAGTTTCAAGTACTTTCGAAATATTTACTCATTTCATCCTCTTATCACCCCACTGCGATAGTCATCCCCATTGTATAGATGAAGAAACTGAGGCTTAGAGAAGTTAAGTCACTTGCCCAAGTTCACATAACTAGTAAGAGGTGGGGCTGGGGCATGAGTTTTGTCCAATCTCCTATGAGGTCCAGAGCCTTTAGAAAGACCTTCCCTCCTTTGCACACTGTCTCAGGCAGTGAAGTGGGGCTAACAGAATGGACTGCTGTGTTCTAAGCACTATGGAAGTGTTAGCTGCTACTCTTATTGTTAGCGTATAGTAAATAATGAATACCATAGTCAAGATGATATTCATTATCATAAGATGGCACCCAGTGATCCTTGTCTCCTGGTATTTGTGCCTTTGTGTAGTCTCCTCCCACTGCATACCAGGGTTGGTCCCTGTGACCAGTAGAATATGGCAGAAGTGATCATGGGCCACTCCAAGGTTAGGTCATAAAAGATATTGTGGCTTCTATATGGCTCTCTGTCTCTTGGACTTTGGGAGAAGTTGGCTGCCATGCCATAAGAACACTCAAGCAAAAAAAAAAAAAAAAAAGAACACTCAAGCAGCCTCCAGGAGAGGTCCCTGTAGGAAGGAACTGAGATCTCCAGCTAACACCTACCACAGGGAACTATTTTAGAAGTGGATCCTTCATTTCCAGTGAAGCCTTCAGAGTGACCGAAGCCCCAGCTGACATTTTGACTGCAGCTTCCTCCGAGACCCTGAGCCAGAACTACTCTGCTAAGCCACTCCTAGATTTCTGGCTCTCAGAAATTGAATAAGAAAGTAAATGTTGTTTTAAGATGCTCAGTTTGGGGTGATTTGTTACATAGCAATGCATAGTTAACACATGAATGAATATGTAAGCTCACTTTGCTCATTGAGAAACTCCTAAGAACAATTTGGTGACATAAAGCCCTAGGGTGGCCTGGTGACCCCACAACAGCCCCTTCTGTTCTCACAAACCTGGTGCCCTTTGTCCTCATGTTCTATCCCTCACAGGAAGGGAGCCAAGAGTCTAAGCCCAACTTTTCCAACAGAGGCAAGCATGGACTGCCAGCCTGGGTGTGTGCATTTGAGGGTTCAATGCTATTTGGGAGCCACGAAGAATCCACAAAGATGTGCTGTGGTTGGCCATTTTTTAAAATTTATTTTTTATTTTTTTGAGATGGAGCCTCGCTCTTGTT
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Task1_train_10245
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Chromosome 6 houses a mutation in gene LHFPL5 (LHFPL tetraspan subfamily member 5). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 67
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GCAATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGAATACAGGCACCCGCCACTACGCCCGGCGTAAGTGCATTTCCTGCATTTAATAGATGGCGAAACTGAGGCTCCGGAAGGAAGGTTAAGTCCATGGATGGTTACTTAGTAAGTAGCTCATTCAAATCCAGGCCTGTTGAACCCCAAAGTCCATGTTTTTAAGATTGTCTTGTCTTTCCTTAGCTCCGGACGTTGGTGTTATTATTATTATTATTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGAGTTCACACCATTCTTCTGCCTCAGCCTCCCCAGCAGCTGGGACAACAGGCGCGTGCTGCCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTAAGCCCCACGCCCAGTGGAATTTTCCTAGTTCTTTACACTAGCCATGTATTTACCTATAAAATCAGGAGAAATATGTATATATATAATATATTAAAACATATATATATTTAAATGGGGAAATATGTAACAAACAAATAGAAACAAGGGGAGAAAGGCATTGTATTTGACAAAACACATATGTTCAGGTCTGAGAAGGCTCATAAAGAATGTTGTCTGCTATACTTTGTAGTTGCTTCTGTTATCACACAATCAGTCTGCATATACAGGCGTTTTATATATATATTTATATAGACTACATATATACGTATATTATATATGTAAATATTTCACTGTCTTTGAGGACGGGGGCCCTGTCTTTTTTATCTGTGGTTTTGCTTAGATGTCCTCCAACATAATCTTAACACATAGTATGCTTTTAGAAATCGTTGACTGAATGCTAAGGACGAAAAACCGGTGACCAGAAGGCAACCAGGAAAGGCTTTGCTGACCTCCGGAGTGGTGGAGTTGGAGGTTCTGGGAAGGCGACTAGGGAGCCAGGCAGGGGCGGGGTGGGATGGGATGTGGACAGCGCTTTTGCGGGGGGAAAGCGTTTTTGCTGCTGGAATTGAGCAGTAGGAATGTGTCAGTCACATCCCCACCTTCCCAATTCTTGTCATCTCGGTTCAGGAAGGTGAACGGTGTTCCGATTCCCCGCGGCGGGGGCCTGTAGTGGGAGCTCTGCCCCTTCCCCGCCTCTGCTGCAGGCCCCGCCCCTCGCCCGGAACCCCGGGGCGCTGGCCGCGGTGCTGAAACGGCGCCCTCCGCGGACGGAGGAGGGGGCGGGGCTCTCGGGAGCCGTGAGCCGGGAAGAGGGAGACGGGCAGGGCGGCGCCAGCAGGCCCTGGTGGGCTTGGGAGGAGGCAGGAGACTGGAGACAGCCTCGGCTAGAGCGGACACAGGCACCTGGCAAGCTTTCCTTGACCAAATCAAGGTTGTCCTTGTCCTATTAAGCCTCTTCCCCTTGCCTTGAAGGGACCTCACCTGGTGCCCTGACCTCAGCCTCCTCCCCAAACCCCGCTGGGGAGTGACCTGCTTCTAGGCCTCCATCCACAAAGCTACGGACTTGCAGCCCACGGGACCCCAGCCCAGGGCCTGCTGCCCTCACCATGGTGAAATTGCTGCCGGCCCAGGAGGCAGCCAAGATCTACCATACCAACTATGTGCGGAACTCGCGAGCCGTGGGCGTGATGTGGGGTACCCTCACCATCTGCTTCTCCGTACTGGTCATGGCCCTCTTCATCCAGCCCTACTGGATCGGCGACAGCGTCAACACACCGCAGGCAGGCTACTTCGGCCTTTTCTCCTACTGCGTGGGTAACGTGCTGTCCTCCGAGCTCATCTGCAAGGGCGGCCCCCTAGACTTCTCCTCCATCCCCTCTAGAGCCTTCAAGACTGCCATGTTCTTTGTGGCCTTGGGCATGTTCCTCATCATTGGCTCCATCATCTGCTTCAGCCTGTTCTTCATCTGCAACACGGCCACAGTCTATAAGATCTGTGCATGGATGCAGCTGGCTGCGGGTAAGCAGAGATGGTGGGAGGGCAGGCAGGGGCCCACCCCGGGGCCACAGCTGCAGCTGCACCATCCCAGCCTCTGCCAGGGCTCTGGGCCTTAAATTTAGCTGTTCTCCTATAGCCCAGTCCTACTCAGTGCTCTGCAGAAGATTCTGAGGAGTTGAGAATCTTAAAATGGCAGAGGCAGAAAAGACCTTAGAGACCAAGCTGTCCAACCCTCTCATCCTACAGATGAGGTTCTGAGCCCAGAACCTCATCTGAGCCCAGAACCTCATCTGTAAGGGGAAGTGACTTGCCCAGGAGCACACAGTTGCCAGTCCTGATTCCCAGGCCATCACATCAGTTTTTGCAGCTGTGAGAGAGAGAAAGAAGGAAGCTTCCATTGTTGGCCATGTGGGAATAGGACTCAACCCTAGCACAAAGTAGTGACACCAGTCAAGCACATTCTAGATGCCTTCATCTCCCACCTCTGGGCTTTTGTTCTTTTTAAGAGTGCCCAGAACTCTGTCCTCATTCTCTCTCTCCCACTCCAAACTGCTCTCAGATTCTAAGGTCTCTTGCTGATTTTGGAGTGTTACTATTATGCAGGGTATGACCTTGCCTATAGAAACTTTCATCTAAATTCCCCTCTTTCATTGTGGAGTGAAAGTCTTTTTTCCTTGATCATGGGATTTTATACTTAAGGCAGCAAATGGAGTGATATTTTGTGAGGTAGAGGAAGCTATTTAGGGTCCTTTTGTTGTTGTTGTTGTTTGTTTGTTTTTTGAGACAGAGTCTCACTCTTTGGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTGACTGCAGCCTCAACCTCCTTGGACTTAGGTGATCCTCTCACATCAGCCTCCCAAGTAGCTGGGACTCCAGGTGCGCACCACCATGTCTAGCTAATTTTTTTTGTATTTTTTGTAGAGACGGGGTTTTGTCATGTTGCCCAGGCAGGTCTTGAACTGCTGGGCTCAAGTGATTTGCCTGCCTCAGTCTCCCAAAGTGTTGGGATTTCAGATGTGATCCACAGCACCTGGCCTAGGGTCCTTTAAAACAATGTGGGGGCTGGGCACAGCGGCTCACACCTGTAATCCCAGCACTTTGGGAGAGAGCATCACTTGAGCTCAGGAGTTTGAGACTAGACTGGGCAAGATGGAAAGACCCTGTCTCTAAAAATAATAATAATAATAATAAATAAAATAAAACAAATAAAACTGTGGGGTAGGCAGCTACTTGTGCCTTGAGGCAAAACCTCCCTGGTCCTTTTTCCTGCTTCTAGCTCAGGAAGGCTTCTTGGTCCTTGTGCCAAGTGGTCTTGCTCTTCTCTGTAGCCCAGGAAGAGGGTTAAGACCTTGTGCTGCAGCCTCTGGTACCTTGGTCCCTGCACACCTCAGGGGCCACAAACTGTCCATGTCGGTGAGATGTCCAGGAGTAGTGCCGGGGACTGGAAACTAGAGTGAAACCATCTCATTGGTCAGAATGAGAAGTGCTGTCATCTTTAAGAGGGAGACTGAAACAGGCATCTGAATCCCAGACCACCAAACATGCAGATTCAAGACTGCAGAGTTGGAGGGGACCCCAGAGAGCTATATCCACCCCCCAACTATAGATGAGGAATCTGCTGCTGAGAGAAAGGACCAGACTTGGCCAAGGCTGTAGCAGATCAGCAGGCACCTGAGGACCAGGAAGAATTAAGCGGGCAACTGAGGACCAAGGAACTAGATGTATTCCTAAGATGTTTTTACTGAGCCACATATTTACATAAGTATAATGATCTATGAAATATCTTTACATATAATATCTGGAGGAGCCCCAGCACAACCCATTGAGGTGGGTATTTATCTATTTTACAAAGAAGGCCCCTAGTGGGTAACTTGTCTTTGAGCATACAAGTAGGAAGGCATGCACCTTTGATTCCAAATCTTGCACCCAGGCTACTCACATGGCTTCAGAGTTCCCAGCAAATCCCCTTGCCACCTCCCTGTTCTCTGTAGTCTCTCTGTATGATA
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GCAATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGAATACAGGCACCCGCCACTACGCCCGGCGTAAGTGCATTTCCTGCATTTAATAGATGGCGAAACTGAGGCTCCGGAAGGAAGGTTAAGTCCATGGATGGTTACTTAGTAAGTAGCTCATTCAAATCCAGGCCTGTTGAACCCCAAAGTCCATGTTTTTAAGATTGTCTTGTCTTTCCTTAGCTCCGGACGTTGGTGTTATTATTATTATTATTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGAGTTCACACCATTCTTCTGCCTCAGCCTCCCCAGCAGCTGGGACAACAGGCGCGTGCTGCCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTAAGCCCCACGCCCAGTGGAATTTTCCTAGTTCTTTACACTAGCCATGTATTTACCTATAAAATCAGGAGAAATATGTATATATATAATATATTAAAACATATATATATTTAAATGGGGAAATATGTAACAAACAAATAGAAACAAGGGGAGAAAGGCATTGTATTTGACAAAACACATATGTTCAGGTCTGAGAAGGCTCATAAAGAATGTTGTCTGCTATACTTTGTAGTTGCTTCTGTTATCACACAATCAGTCTGCATATACAGGCGTTTTATATATATATTTATATAGACTACATATATACGTATATTATATATGTAAATATTTCACTGTCTTTGAGGACGGGGGCCCTGTCTTTTTTATCTGTGGTTTTGCTTAGATGTCCTCCAACATAATCTTAACACATAGTATGCTTTTAGAAATCGTTGACTGAATGCTAAGGACGAAAAACCGGTGACCAGAAGGCAACCAGGAAAGGCTTTGCTGACCTCCGGAGTGGTGGAGTTGGAGGTTCTGGGAAGGCGACTAGGGAGCCAGGCAGGGGCGGGGTGGGATGGGATGTGGACAGCGCTTTTGCGGGGGGAAAGCGTTTTTGCTGCTGGAATTGAGCAGTAGGAATGTGTCAGTCACATCCCCACCTTCCCAATTCTTGTCATCTCGGTTCAGGAAGGTGAACGGTGTTCCGATTCCCCGCGGCGGGGGCCTGTAGTGGGAGCTCTGCCCCTTCCCCGCCTCTGCTGCAGGCCCCGCCCCTCGCCCGGAACCCCGGGGCGCTGGCCGCGGTGCTGAAACGGCGCCCTCCGCGGACGGAGGAGGGGGCGGGGCTCTCGGGAGCCGTGAGCCGGGAAGAGGGAGACGGGCAGGGCGGCGCCAGCAGGCCCTGGTGGGCTTGGGAGGAGGCAGGAGACTGGAGACAGCCTCGGCTAGAGCGGACACAGGCACCTGGCAAGCTTTCCTTGACCAAATCAAGGTTGTCCTTGTCCTATTAAGCCTCTTCCCCTTGCCTTGAAGGGACCTCACCTGGTGCCCTGACCTCAGCCTCCTCCCCAAACCCCGCTGGGGAGTGACCTGCTTCTAGGCCTCCATCCACAAAGCTACGGACTTGCAGCCCACGGGACCCCAGCCCAGGGCCTGCTGCCCTCACCATGGTGAAATTGCTGCCGGCCCAGGAGGCAGCCAAGATCTACCATACCAACTATGTGCGGAACTCGCGAGCCGTGGGCGTGATGTGGGGTACCCTCACCATCTGCTTCTCCGTACTGGTCATGGCCCTCTTCATCCAGCCCTACTGGATCGGCGACAGCGTCAACACACCGCAGGCAGGCTACTTCGGCCTTTTCTCCTACTGCGTGGGTAACGTGCTGTCCTCCGAGCTCATCTGCAAGGGCGGCCCCCTAGACTTCTCCTCCATCCCCTCTAGAGCCTTCAAGACTGCCATGTTCTTTGTGGCCTTGGGCATGTTCCTCATCATTGGCTCCATCATCTGCTTCAGCCTGTTCTTCATCTGCAACACGGCCACAGTCTGTAAGATCTGTGCATGGATGCAGCTGGCTGCGGGTAAGCAGAGATGGTGGGAGGGCAGGCAGGGGCCCACCCCGGGGCCACAGCTGCAGCTGCACCATCCCAGCCTCTGCCAGGGCTCTGGGCCTTAAATTTAGCTGTTCTCCTATAGCCCAGTCCTACTCAGTGCTCTGCAGAAGATTCTGAGGAGTTGAGAATCTTAAAATGGCAGAGGCAGAAAAGACCTTAGAGACCAAGCTGTCCAACCCTCTCATCCTACAGATGAGGTTCTGAGCCCAGAACCTCATCTGAGCCCAGAACCTCATCTGTAAGGGGAAGTGACTTGCCCAGGAGCACACAGTTGCCAGTCCTGATTCCCAGGCCATCACATCAGTTTTTGCAGCTGTGAGAGAGAGAAAGAAGGAAGCTTCCATTGTTGGCCATGTGGGAATAGGACTCAACCCTAGCACAAAGTAGTGACACCAGTCAAGCACATTCTAGATGCCTTCATCTCCCACCTCTGGGCTTTTGTTCTTTTTAAGAGTGCCCAGAACTCTGTCCTCATTCTCTCTCTCCCACTCCAAACTGCTCTCAGATTCTAAGGTCTCTTGCTGATTTTGGAGTGTTACTATTATGCAGGGTATGACCTTGCCTATAGAAACTTTCATCTAAATTCCCCTCTTTCATTGTGGAGTGAAAGTCTTTTTTCCTTGATCATGGGATTTTATACTTAAGGCAGCAAATGGAGTGATATTTTGTGAGGTAGAGGAAGCTATTTAGGGTCCTTTTGTTGTTGTTGTTGTTTGTTTGTTTTTTGAGACAGAGTCTCACTCTTTGGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTGACTGCAGCCTCAACCTCCTTGGACTTAGGTGATCCTCTCACATCAGCCTCCCAAGTAGCTGGGACTCCAGGTGCGCACCACCATGTCTAGCTAATTTTTTTTGTATTTTTTGTAGAGACGGGGTTTTGTCATGTTGCCCAGGCAGGTCTTGAACTGCTGGGCTCAAGTGATTTGCCTGCCTCAGTCTCCCAAAGTGTTGGGATTTCAGATGTGATCCACAGCACCTGGCCTAGGGTCCTTTAAAACAATGTGGGGGCTGGGCACAGCGGCTCACACCTGTAATCCCAGCACTTTGGGAGAGAGCATCACTTGAGCTCAGGAGTTTGAGACTAGACTGGGCAAGATGGAAAGACCCTGTCTCTAAAAATAATAATAATAATAATAAATAAAATAAAACAAATAAAACTGTGGGGTAGGCAGCTACTTGTGCCTTGAGGCAAAACCTCCCTGGTCCTTTTTCCTGCTTCTAGCTCAGGAAGGCTTCTTGGTCCTTGTGCCAAGTGGTCTTGCTCTTCTCTGTAGCCCAGGAAGAGGGTTAAGACCTTGTGCTGCAGCCTCTGGTACCTTGGTCCCTGCACACCTCAGGGGCCACAAACTGTCCATGTCGGTGAGATGTCCAGGAGTAGTGCCGGGGACTGGAAACTAGAGTGAAACCATCTCATTGGTCAGAATGAGAAGTGCTGTCATCTTTAAGAGGGAGACTGAAACAGGCATCTGAATCCCAGACCACCAAACATGCAGATTCAAGACTGCAGAGTTGGAGGGGACCCCAGAGAGCTATATCCACCCCCCAACTATAGATGAGGAATCTGCTGCTGAGAGAAAGGACCAGACTTGGCCAAGGCTGTAGCAGATCAGCAGGCACCTGAGGACCAGGAAGAATTAAGCGGGCAACTGAGGACCAAGGAACTAGATGTATTCCTAAGATGTTTTTACTGAGCCACATATTTACATAAGTATAATGATCTATGAAATATCTTTACATATAATATCTGGAGGAGCCCCAGCACAACCCATTGAGGTGGGTATTTATCTATTTTACAAAGAAGGCCCCTAGTGGGTAACTTGTCTTTGAGCATACAAGTAGGAAGGCATGCACCTTTGATTCCAAATCTTGCACCCAGGCTACTCACATGGCTTCAGAGTTCCCAGCAAATCCCCTTGCCACCTCCCTGTTCTCTGTAGTCTCTCTGTATGATA
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Task1_train_10246
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This is a variant in LHFPL5 (LHFPL tetraspan subfamily member 5), located on Chromosome 6. Is this mutation a likely cause of disease or not?
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Pathogenic; not provided
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AAGTAAGGCACAGGGTGTGATAATAACTCTCACAGTCAACTCTTATGGAGTGCCAAGTCTGTGCCAGGCACTGTTCTACACTCTTTTCCAGTATTAACTCATTTGAACCTTGCTGTAACCACAACAGGAAGGTTAGGGTTATTATTATGTCCATTTTGTAGATGAGGAAACTGAGGCAAACAAAGCTTAAGTATGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCCGGCGGATCACTTGAACCCAGGAGTTCAAGACCAACCTGGCCAACGTGGCAAAACCCCGTCTCTATGAAAAATACAAAAATTAGCCGGGCATGGTGGTACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAGGCAGGAGAATCACTTGAATCCGGGAGGCGGGTGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAGAAAAGAAAGCTTAAGTTGCTTGCTCTGAGTCACATAGCTAGGTAGCAGAGAACTGGGTTTGAAATCCAGGCAGCCTAGTCTAGTGTTTCCCAGCTTTTCCTACTGAGAAAATCACCTGGAAGAGTGCTTTTGAAAACAGGGATTATTGAACCCAACCATGACCTAGGAACTAGCATTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGGTCTGTTGCCCAGGCTGGAGTGCAGGGGCGCCATCTCGGCTCACTGTAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCATCATGCCCGGCTAATTTTTGTATTTTTAGGAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTAATCCGTCCACCTCGACCTCCCAAAGTCCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCTCCAGGGGATTCTTAAATTTAGGGACGTGTAGCAACTGGACTATGCTGTACTGGGTAAGAGTGAGGAGGAAACCTGTTTGCTTGAATGGAAGGCTTTTGAAGGAAGCAGCCAGGGACAGTCTGGAAAGCCTTCCTGTATACATTAAATCTAAGATACCTGAGTTGTAGGACACACTGTTATTCTATGTACCATAAAAACAAAATATACTGATAATCTGGCCATGGCCTGACACTTTCTTTTTCCTTTTCCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCTCAGGCTGGAGTGCAATGGTGTGATCTCAGCTCACCGCAACCTCTGCCTGCAGGGTTCAAGCTACTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATCACAGGCATGTACCACCACTCCCTGCTAATTTTGTATTTTTAGTAGAGAACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCAACCTCAGGTGATCTGCCCGCCTCGACCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACCCCCAGGCTAGACACTTTCTTATTGAGCTTATTTCACAGATGTTGTAAGTACGAAGAAATGTACATCTCAGCAGTGATGAGTTCTTTGGGCTGGGACTAGATACCGGAGGGCTTTGAAGCCAGGGTAGGTGGTGCCTGGTTGAGTCCAAGGTGAGGAGAATGGCTGAAGGCCTGGGAGGACCACCTGGTGTGGTGGCAGAGCCGGCCTGGGCTTAGGAGCTCAGCTCTGCCTCCGCCCCAACTACTGGGTCTCGGGGGCCAGTTGCTTTAACTCTCAGAGCCTCAGTTTTCTCACCTGTGTTCTGCAAGAAGGATGGTAGAGGCTGCCTCTCATGCCTCCTGAGGCTGTTAACAGAAGGAGAAGGGAGGTGACAACATAACAGCAGTGCAAGGTGTGGGAGGTAGCGGGCTAGGCACACTCGGCCTGATGCCATGTGCACCCCTCCTTCCCCCTCAGCCACAGGCCTAATGATTGGCTGCCTGGTCTACCCTGATGGTTGGGACTCAAGTGAGGTGCGGCGCATGTGTGGGGAGCAGACGGGCAAGTACACGCTGGGCCACTGCACCATCCGCTGGGCCTTCATGCTGGCCATCCTCAGCATTGGCGACGCCCTCATCCTCTCCTTCCTGGCCTTCGTGTTGGGCTACCGGCAGGACAAGCTCCTCCCTGACGACTACAAGGCAGATGGAACCGGTAATCACCCAACTCCACAATGGTGTCCCCTGCCTGGAGACCCTGGGATGTGGGTGGGGGTTCATCTTAGCCAGTCCTCTAAGGCTTGGTCCCTGGCCAAGGGATGGGGACACCAAGACTAATCAGACACACCCCTTGTCCTCCCTGAAATCAAAGGCCAGTGGAGGGTTGCAAGCTAGCAGGTGATAAGGCGATCTGTGATAAAGGAATGTCCCCCTCACCCCTCTACACTCTCAGAGGCTATAGGGGAGAGAGCTGCAATCCAGCCTTGGGGGCTAAGTGTGGTCTCCCCTAGAAGGAGGCACTGAGGCGGGGTCTCGAAGTAATATTCCTGGAAGTTTGTTGGTGGAGATGGGGAACAACAGCAGATGAGTTGCTGGGGAGGGAGTGCGACCTTGAGAACAGGCCAATGAGGGTGCAGAAGTGACAGCTCCTGCAGTGCAGCTGGTGGGAGCCCGAGATCCCTGGAGGAACAGCAGCCTTGGGATTCTCGTAATGTTCGTCCTGTTTCAATTCCCTCCCATCCAAATCCTACCTGTCAGTCATAAAAGTCAGCTGTAGCTGATCCTTGAGGCCCAAGCACATCCTCCAGGAAGCCCTCCCTGATTGCTTCCCATTACTCCCTTCTTCCTAGGGTGCCTTTTGCTTCTGTTTCTCATTGGGCTCTTCCCCTGCCTGTCTTGGGCTAATTTTTCAGAGCATAAATTTCTTCCCCAAGTCAAGGGCAAGGCCTGTCTTGCACCCCTGTGAATCCCCAAATGCCTGATCTCAGCAGGTGGCCATCACTGGGGACCTGTTACACCTCAGAAACCTCTCCAGTCTCTTTTCCCCATAGCTGTCTTCACATTAGCCCTTGGATTAGAAGCAGCAGCCAAACTCCTCTGTGCACTATAACCAAGGACTCTTCCCACATGAGGAACTTGAAGCCCAAAAGGGAAAGTCACTCAGAAGTTCCCAGAAAGGCAGTGGCAAAGAAGCCCAGAACTCAGGTCCTCTCTGGCCAAGCCCGGGGCCCACTGCTCCATAAGGAAGTGATAGGAAACATTTCATCCTTCTTTGGGGGTGAGAGAAGGATAACCACCTGTTATGTGGTTAAAGATGAAAACAGGCCGGGCACGGTGGCTCATGCCTATAATCCCAGAACTTTGGGAGGCCGAGGTGGGTGGATCATGAGGTCAAGAGATCAAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAATAGCTGGGTGCGGTGGCTCGCAGCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCTCTTGGACCCAGGAGGCAGAGGTTGAAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAAAAAAAAGAAAAAGAAAACAAATTACTAGAAAGAGCTGGGCCAAGGAGAGAAAAGATTTCTTCTCATCACAGTAGGGTAGATTCCTATAGTTCCTGGGTCAGGGAAAGGCCTAGATCCCGGATCCCTTGAGGATTCTATAAAGGGAAGAAAAAATGAACTAGTAGGGCTGGGTGCAGAGGCTTATGCCTGTAACCCCAGCGCTCTGGGAGGCCAAGGCAGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCACAACCCCATCTCTACTAAAAATACAAAAATTAGCTAGGCTT
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AAGTAAGGCACAGGGTGTGATAATAACTCTCACAGTCAACTCTTATGGAGTGCCAAGTCTGTGCCAGGCACTGTTCTACACTCTTTTCCAGTATTAACTCATTTGAACCTTGCTGTAACCACAACAGGAAGGTTAGGGTTATTATTATGTCCATTTTGTAGATGAGGAAACTGAGGCAAACAAAGCTTAAGTATGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCCGGCGGATCACTTGAACCCAGGAGTTCAAGACCAACCTGGCCAACGTGGCAAAACCCCGTCTCTATGAAAAATACAAAAATTAGCCGGGCATGGTGGTACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAGGCAGGAGAATCACTTGAATCCGGGAGGCGGGTGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAGAAAAGAAAGCTTAAGTTGCTTGCTCTGAGTCACATAGCTAGGTAGCAGAGAACTGGGTTTGAAATCCAGGCAGCCTAGTCTAGTGTTTCCCAGCTTTTCCTACTGAGAAAATCACCTGGAAGAGTGCTTTTGAAAACAGGGATTATTGAACCCAACCATGACCTAGGAACTAGCATTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGGTCTGTTGCCCAGGCTGGAGTGCAGGGGCGCCATCTCGGCTCACTGTAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCATCATGCCCGGCTAATTTTTGTATTTTTAGGAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTAATCCGTCCACCTCGACCTCCCAAAGTCCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCTCCAGGGGATTCTTAAATTTAGGGACGTGTAGCAACTGGACTATGCTGTACTGGGTAAGAGTGAGGAGGAAACCTGTTTGCTTGAATGGAAGGCTTTTGAAGGAAGCAGCCAGGGACAGTCTGGAAAGCCTTCCTGTATACATTAAATCTAAGATACCTGAGTTGTAGGACACACTGTTATTCTATGTACCATAAAAACAAAATATACTGATAATCTGGCCATGGCCTGACACTTTCTTTTTCCTTTTCCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCTCAGGCTGGAGTGCAATGGTGTGATCTCAGCTCACCGCAACCTCTGCCTGCAGGGTTCAAGCTACTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATCACAGGCATGTACCACCACTCCCTGCTAATTTTGTATTTTTAGTAGAGAACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCAACCTCAGGTGATCTGCCCGCCTCGACCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACCCCCAGGCTAGACACTTTCTTATTGAGCTTATTTCACAGATGTTGTAAGTACGAAGAAATGTACATCTCAGCAGTGATGAGTTCTTTGGGCTGGGACTAGATACCGGAGGGCTTTGAAGCCAGGGTAGGTGGTGCCTGGTTGAGTCCAAGGTGAGGAGAATGGCTGAAGGCCTGGGAGGACCACCTGGTGTGGTGGCAGAGCCGGCCTGGGCTTAGGAGCTCAGCTCTGCCTCCGCCCCAACTACTGGGTCTCGGGGGCCAGTTGCTTTAACTCTCAGAGCCTCAGTTTTCTCACCTGTGTTCTGCAAGAAGGATGGTAGAGGCTGCCTCTCATGCCTCCTGAGGCTGTTAACAGAAGGAGAAGGGAGGTGACAACATAACAGCAGTGCAAGGTGTGGGAGGTAGCGGGCTAGGCACACTCGGCCTGATGCCATGTGCACCCCTCCTTCCCCCTCAGCCACAGGCCTAATGATTGGCTGCCTGGTCTACCCTGATGGTTGGGACTCAAGTGAGGTGCGGCGCATGTGTGGGGAGCAGATGGGCAAGTACACGCTGGGCCACTGCACCATCCGCTGGGCCTTCATGCTGGCCATCCTCAGCATTGGCGACGCCCTCATCCTCTCCTTCCTGGCCTTCGTGTTGGGCTACCGGCAGGACAAGCTCCTCCCTGACGACTACAAGGCAGATGGAACCGGTAATCACCCAACTCCACAATGGTGTCCCCTGCCTGGAGACCCTGGGATGTGGGTGGGGGTTCATCTTAGCCAGTCCTCTAAGGCTTGGTCCCTGGCCAAGGGATGGGGACACCAAGACTAATCAGACACACCCCTTGTCCTCCCTGAAATCAAAGGCCAGTGGAGGGTTGCAAGCTAGCAGGTGATAAGGCGATCTGTGATAAAGGAATGTCCCCCTCACCCCTCTACACTCTCAGAGGCTATAGGGGAGAGAGCTGCAATCCAGCCTTGGGGGCTAAGTGTGGTCTCCCCTAGAAGGAGGCACTGAGGCGGGGTCTCGAAGTAATATTCCTGGAAGTTTGTTGGTGGAGATGGGGAACAACAGCAGATGAGTTGCTGGGGAGGGAGTGCGACCTTGAGAACAGGCCAATGAGGGTGCAGAAGTGACAGCTCCTGCAGTGCAGCTGGTGGGAGCCCGAGATCCCTGGAGGAACAGCAGCCTTGGGATTCTCGTAATGTTCGTCCTGTTTCAATTCCCTCCCATCCAAATCCTACCTGTCAGTCATAAAAGTCAGCTGTAGCTGATCCTTGAGGCCCAAGCACATCCTCCAGGAAGCCCTCCCTGATTGCTTCCCATTACTCCCTTCTTCCTAGGGTGCCTTTTGCTTCTGTTTCTCATTGGGCTCTTCCCCTGCCTGTCTTGGGCTAATTTTTCAGAGCATAAATTTCTTCCCCAAGTCAAGGGCAAGGCCTGTCTTGCACCCCTGTGAATCCCCAAATGCCTGATCTCAGCAGGTGGCCATCACTGGGGACCTGTTACACCTCAGAAACCTCTCCAGTCTCTTTTCCCCATAGCTGTCTTCACATTAGCCCTTGGATTAGAAGCAGCAGCCAAACTCCTCTGTGCACTATAACCAAGGACTCTTCCCACATGAGGAACTTGAAGCCCAAAAGGGAAAGTCACTCAGAAGTTCCCAGAAAGGCAGTGGCAAAGAAGCCCAGAACTCAGGTCCTCTCTGGCCAAGCCCGGGGCCCACTGCTCCATAAGGAAGTGATAGGAAACATTTCATCCTTCTTTGGGGGTGAGAGAAGGATAACCACCTGTTATGTGGTTAAAGATGAAAACAGGCCGGGCACGGTGGCTCATGCCTATAATCCCAGAACTTTGGGAGGCCGAGGTGGGTGGATCATGAGGTCAAGAGATCAAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAATAGCTGGGTGCGGTGGCTCGCAGCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCTCTTGGACCCAGGAGGCAGAGGTTGAAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAAAAAAAAGAAAAAGAAAACAAATTACTAGAAAGAGCTGGGCCAAGGAGAGAAAAGATTTCTTCTCATCACAGTAGGGTAGATTCCTATAGTTCCTGGGTCAGGGAAAGGCCTAGATCCCGGATCCCTTGAGGATTCTATAAAGGGAAGAAAAAATGAACTAGTAGGGCTGGGTGCAGAGGCTTATGCCTGTAACCCCAGCGCTCTGGGAGGCCAAGGCAGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCACAACCCCATCTCTACTAAAAATACAAAAATTAGCTAGGCTT
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Task1_train_10247
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A variant affecting Chromosome 6, within the gene LHFPL5 (LHFPL tetraspan subfamily member 5), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Autosomal recessive non-syndromic intellectual disability
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TCTTTTCCAGTATTAACTCATTTGAACCTTGCTGTAACCACAACAGGAAGGTTAGGGTTATTATTATGTCCATTTTGTAGATGAGGAAACTGAGGCAAACAAAGCTTAAGTATGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCCGGCGGATCACTTGAACCCAGGAGTTCAAGACCAACCTGGCCAACGTGGCAAAACCCCGTCTCTATGAAAAATACAAAAATTAGCCGGGCATGGTGGTACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAGGCAGGAGAATCACTTGAATCCGGGAGGCGGGTGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAGAAAAGAAAGCTTAAGTTGCTTGCTCTGAGTCACATAGCTAGGTAGCAGAGAACTGGGTTTGAAATCCAGGCAGCCTAGTCTAGTGTTTCCCAGCTTTTCCTACTGAGAAAATCACCTGGAAGAGTGCTTTTGAAAACAGGGATTATTGAACCCAACCATGACCTAGGAACTAGCATTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGGTCTGTTGCCCAGGCTGGAGTGCAGGGGCGCCATCTCGGCTCACTGTAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCATCATGCCCGGCTAATTTTTGTATTTTTAGGAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTAATCCGTCCACCTCGACCTCCCAAAGTCCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCTCCAGGGGATTCTTAAATTTAGGGACGTGTAGCAACTGGACTATGCTGTACTGGGTAAGAGTGAGGAGGAAACCTGTTTGCTTGAATGGAAGGCTTTTGAAGGAAGCAGCCAGGGACAGTCTGGAAAGCCTTCCTGTATACATTAAATCTAAGATACCTGAGTTGTAGGACACACTGTTATTCTATGTACCATAAAAACAAAATATACTGATAATCTGGCCATGGCCTGACACTTTCTTTTTCCTTTTCCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCTCAGGCTGGAGTGCAATGGTGTGATCTCAGCTCACCGCAACCTCTGCCTGCAGGGTTCAAGCTACTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATCACAGGCATGTACCACCACTCCCTGCTAATTTTGTATTTTTAGTAGAGAACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCAACCTCAGGTGATCTGCCCGCCTCGACCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACCCCCAGGCTAGACACTTTCTTATTGAGCTTATTTCACAGATGTTGTAAGTACGAAGAAATGTACATCTCAGCAGTGATGAGTTCTTTGGGCTGGGACTAGATACCGGAGGGCTTTGAAGCCAGGGTAGGTGGTGCCTGGTTGAGTCCAAGGTGAGGAGAATGGCTGAAGGCCTGGGAGGACCACCTGGTGTGGTGGCAGAGCCGGCCTGGGCTTAGGAGCTCAGCTCTGCCTCCGCCCCAACTACTGGGTCTCGGGGGCCAGTTGCTTTAACTCTCAGAGCCTCAGTTTTCTCACCTGTGTTCTGCAAGAAGGATGGTAGAGGCTGCCTCTCATGCCTCCTGAGGCTGTTAACAGAAGGAGAAGGGAGGTGACAACATAACAGCAGTGCAAGGTGTGGGAGGTAGCGGGCTAGGCACACTCGGCCTGATGCCATGTGCACCCCTCCTTCCCCCTCAGCCACAGGCCTAATGATTGGCTGCCTGGTCTACCCTGATGGTTGGGACTCAAGTGAGGTGCGGCGCATGTGTGGGGAGCAGACGGGCAAGTACACGCTGGGCCACTGCACCATCCGCTGGGCCTTCATGCTGGCCATCCTCAGCATTGGCGACGCCCTCATCCTCTCCTTCCTGGCCTTCGTGTTGGGCTACCGGCAGGACAAGCTCCTCCCTGACGACTACAAGGCAGATGGAACCGGTAATCACCCAACTCCACAATGGTGTCCCCTGCCTGGAGACCCTGGGATGTGGGTGGGGGTTCATCTTAGCCAGTCCTCTAAGGCTTGGTCCCTGGCCAAGGGATGGGGACACCAAGACTAATCAGACACACCCCTTGTCCTCCCTGAAATCAAAGGCCAGTGGAGGGTTGCAAGCTAGCAGGTGATAAGGCGATCTGTGATAAAGGAATGTCCCCCTCACCCCTCTACACTCTCAGAGGCTATAGGGGAGAGAGCTGCAATCCAGCCTTGGGGGCTAAGTGTGGTCTCCCCTAGAAGGAGGCACTGAGGCGGGGTCTCGAAGTAATATTCCTGGAAGTTTGTTGGTGGAGATGGGGAACAACAGCAGATGAGTTGCTGGGGAGGGAGTGCGACCTTGAGAACAGGCCAATGAGGGTGCAGAAGTGACAGCTCCTGCAGTGCAGCTGGTGGGAGCCCGAGATCCCTGGAGGAACAGCAGCCTTGGGATTCTCGTAATGTTCGTCCTGTTTCAATTCCCTCCCATCCAAATCCTACCTGTCAGTCATAAAAGTCAGCTGTAGCTGATCCTTGAGGCCCAAGCACATCCTCCAGGAAGCCCTCCCTGATTGCTTCCCATTACTCCCTTCTTCCTAGGGTGCCTTTTGCTTCTGTTTCTCATTGGGCTCTTCCCCTGCCTGTCTTGGGCTAATTTTTCAGAGCATAAATTTCTTCCCCAAGTCAAGGGCAAGGCCTGTCTTGCACCCCTGTGAATCCCCAAATGCCTGATCTCAGCAGGTGGCCATCACTGGGGACCTGTTACACCTCAGAAACCTCTCCAGTCTCTTTTCCCCATAGCTGTCTTCACATTAGCCCTTGGATTAGAAGCAGCAGCCAAACTCCTCTGTGCACTATAACCAAGGACTCTTCCCACATGAGGAACTTGAAGCCCAAAAGGGAAAGTCACTCAGAAGTTCCCAGAAAGGCAGTGGCAAAGAAGCCCAGAACTCAGGTCCTCTCTGGCCAAGCCCGGGGCCCACTGCTCCATAAGGAAGTGATAGGAAACATTTCATCCTTCTTTGGGGGTGAGAGAAGGATAACCACCTGTTATGTGGTTAAAGATGAAAACAGGCCGGGCACGGTGGCTCATGCCTATAATCCCAGAACTTTGGGAGGCCGAGGTGGGTGGATCATGAGGTCAAGAGATCAAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAATAGCTGGGTGCGGTGGCTCGCAGCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCTCTTGGACCCAGGAGGCAGAGGTTGAAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAAAAAAAAGAAAAAGAAAACAAATTACTAGAAAGAGCTGGGCCAAGGAGAGAAAAGATTTCTTCTCATCACAGTAGGGTAGATTCCTATAGTTCCTGGGTCAGGGAAAGGCCTAGATCCCGGATCCCTTGAGGATTCTATAAAGGGAAGAAAAAATGAACTAGTAGGGCTGGGTGCAGAGGCTTATGCCTGTAACCCCAGCGCTCTGGGAGGCCAAGGCAGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCACAACCCCATCTCTACTAAAAATACAAAAATTAGCTAGGCTTGGTGGTGTGCCCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATAAACCCAGGGGGCAGAGCTTGCAGT
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TCTTTTCCAGTATTAACTCATTTGAACCTTGCTGTAACCACAACAGGAAGGTTAGGGTTATTATTATGTCCATTTTGTAGATGAGGAAACTGAGGCAAACAAAGCTTAAGTATGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCCGGCGGATCACTTGAACCCAGGAGTTCAAGACCAACCTGGCCAACGTGGCAAAACCCCGTCTCTATGAAAAATACAAAAATTAGCCGGGCATGGTGGTACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAGGCAGGAGAATCACTTGAATCCGGGAGGCGGGTGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAGAAAAGAAAGCTTAAGTTGCTTGCTCTGAGTCACATAGCTAGGTAGCAGAGAACTGGGTTTGAAATCCAGGCAGCCTAGTCTAGTGTTTCCCAGCTTTTCCTACTGAGAAAATCACCTGGAAGAGTGCTTTTGAAAACAGGGATTATTGAACCCAACCATGACCTAGGAACTAGCATTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGGTCTGTTGCCCAGGCTGGAGTGCAGGGGCGCCATCTCGGCTCACTGTAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCATCATGCCCGGCTAATTTTTGTATTTTTAGGAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTAATCCGTCCACCTCGACCTCCCAAAGTCCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCTCCAGGGGATTCTTAAATTTAGGGACGTGTAGCAACTGGACTATGCTGTACTGGGTAAGAGTGAGGAGGAAACCTGTTTGCTTGAATGGAAGGCTTTTGAAGGAAGCAGCCAGGGACAGTCTGGAAAGCCTTCCTGTATACATTAAATCTAAGATACCTGAGTTGTAGGACACACTGTTATTCTATGTACCATAAAAACAAAATATACTGATAATCTGGCCATGGCCTGACACTTTCTTTTTCCTTTTCCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCTCAGGCTGGAGTGCAATGGTGTGATCTCAGCTCACCGCAACCTCTGCCTGCAGGGTTCAAGCTACTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATCACAGGCATGTACCACCACTCCCTGCTAATTTTGTATTTTTAGTAGAGAACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCAACCTCAGGTGATCTGCCCGCCTCGACCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACCCCCAGGCTAGACACTTTCTTATTGAGCTTATTTCACAGATGTTGTAAGTACGAAGAAATGTACATCTCAGCAGTGATGAGTTCTTTGGGCTGGGACTAGATACCGGAGGGCTTTGAAGCCAGGGTAGGTGGTGCCTGGTTGAGTCCAAGGTGAGGAGAATGGCTGAAGGCCTGGGAGGACCACCTGGTGTGGTGGCAGAGCCGGCCTGGGCTTAGGAGCTCAGCTCTGCCTCCGCCCCAACTACTGGGTCTCGGGGGCCAGTTGCTTTAACTCTCAGAGCCTCAGTTTTCTCACCTGTGTTCTGCAAGAAGGATGGTAGAGGCTGCCTCTCATGCCTCCTGAGGCTGTTAACAGAAGGAGAAGGGAGGTGACAACATAACAGCAGTGCAAGGTGTGGGAGGTAGCGGGCTAGGCACACTCGGCCTGATGCCATGTGCACCCCTCCTTCCCCCTCAGCCACAGGCCTAATGATTGGCTGCCTGGTCTACCCTGATGGTTGGGACTCAAGTGAGGTGCGGCGCATGTGTGGGGAGCAGACGGGCAAGTACACGCTGGGCCACTGCACCATCCGCTGGGCCTTCATGCTGGCCATCCTCAGCATTGGCGACGCCCTCATCCCCTCCTTCCTGGCCTTCGTGTTGGGCTACCGGCAGGACAAGCTCCTCCCTGACGACTACAAGGCAGATGGAACCGGTAATCACCCAACTCCACAATGGTGTCCCCTGCCTGGAGACCCTGGGATGTGGGTGGGGGTTCATCTTAGCCAGTCCTCTAAGGCTTGGTCCCTGGCCAAGGGATGGGGACACCAAGACTAATCAGACACACCCCTTGTCCTCCCTGAAATCAAAGGCCAGTGGAGGGTTGCAAGCTAGCAGGTGATAAGGCGATCTGTGATAAAGGAATGTCCCCCTCACCCCTCTACACTCTCAGAGGCTATAGGGGAGAGAGCTGCAATCCAGCCTTGGGGGCTAAGTGTGGTCTCCCCTAGAAGGAGGCACTGAGGCGGGGTCTCGAAGTAATATTCCTGGAAGTTTGTTGGTGGAGATGGGGAACAACAGCAGATGAGTTGCTGGGGAGGGAGTGCGACCTTGAGAACAGGCCAATGAGGGTGCAGAAGTGACAGCTCCTGCAGTGCAGCTGGTGGGAGCCCGAGATCCCTGGAGGAACAGCAGCCTTGGGATTCTCGTAATGTTCGTCCTGTTTCAATTCCCTCCCATCCAAATCCTACCTGTCAGTCATAAAAGTCAGCTGTAGCTGATCCTTGAGGCCCAAGCACATCCTCCAGGAAGCCCTCCCTGATTGCTTCCCATTACTCCCTTCTTCCTAGGGTGCCTTTTGCTTCTGTTTCTCATTGGGCTCTTCCCCTGCCTGTCTTGGGCTAATTTTTCAGAGCATAAATTTCTTCCCCAAGTCAAGGGCAAGGCCTGTCTTGCACCCCTGTGAATCCCCAAATGCCTGATCTCAGCAGGTGGCCATCACTGGGGACCTGTTACACCTCAGAAACCTCTCCAGTCTCTTTTCCCCATAGCTGTCTTCACATTAGCCCTTGGATTAGAAGCAGCAGCCAAACTCCTCTGTGCACTATAACCAAGGACTCTTCCCACATGAGGAACTTGAAGCCCAAAAGGGAAAGTCACTCAGAAGTTCCCAGAAAGGCAGTGGCAAAGAAGCCCAGAACTCAGGTCCTCTCTGGCCAAGCCCGGGGCCCACTGCTCCATAAGGAAGTGATAGGAAACATTTCATCCTTCTTTGGGGGTGAGAGAAGGATAACCACCTGTTATGTGGTTAAAGATGAAAACAGGCCGGGCACGGTGGCTCATGCCTATAATCCCAGAACTTTGGGAGGCCGAGGTGGGTGGATCATGAGGTCAAGAGATCAAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAATAGCTGGGTGCGGTGGCTCGCAGCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCTCTTGGACCCAGGAGGCAGAGGTTGAAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAAAAAAAAGAAAAAGAAAACAAATTACTAGAAAGAGCTGGGCCAAGGAGAGAAAAGATTTCTTCTCATCACAGTAGGGTAGATTCCTATAGTTCCTGGGTCAGGGAAAGGCCTAGATCCCGGATCCCTTGAGGATTCTATAAAGGGAAGAAAAAATGAACTAGTAGGGCTGGGTGCAGAGGCTTATGCCTGTAACCCCAGCGCTCTGGGAGGCCAAGGCAGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCACAACCCCATCTCTACTAAAAATACAAAAATTAGCTAGGCTTGGTGGTGTGCCCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATAAACCCAGGGGGCAGAGCTTGCAGT
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Task1_train_10248
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This mutation occurs in LHFPL5 (LHFPL tetraspan subfamily member 5) on Chromosome 6. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 67
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TCTTTTCCAGTATTAACTCATTTGAACCTTGCTGTAACCACAACAGGAAGGTTAGGGTTATTATTATGTCCATTTTGTAGATGAGGAAACTGAGGCAAACAAAGCTTAAGTATGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCCGGCGGATCACTTGAACCCAGGAGTTCAAGACCAACCTGGCCAACGTGGCAAAACCCCGTCTCTATGAAAAATACAAAAATTAGCCGGGCATGGTGGTACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAGGCAGGAGAATCACTTGAATCCGGGAGGCGGGTGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAGAAAAGAAAGCTTAAGTTGCTTGCTCTGAGTCACATAGCTAGGTAGCAGAGAACTGGGTTTGAAATCCAGGCAGCCTAGTCTAGTGTTTCCCAGCTTTTCCTACTGAGAAAATCACCTGGAAGAGTGCTTTTGAAAACAGGGATTATTGAACCCAACCATGACCTAGGAACTAGCATTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGGTCTGTTGCCCAGGCTGGAGTGCAGGGGCGCCATCTCGGCTCACTGTAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCATCATGCCCGGCTAATTTTTGTATTTTTAGGAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTAATCCGTCCACCTCGACCTCCCAAAGTCCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCTCCAGGGGATTCTTAAATTTAGGGACGTGTAGCAACTGGACTATGCTGTACTGGGTAAGAGTGAGGAGGAAACCTGTTTGCTTGAATGGAAGGCTTTTGAAGGAAGCAGCCAGGGACAGTCTGGAAAGCCTTCCTGTATACATTAAATCTAAGATACCTGAGTTGTAGGACACACTGTTATTCTATGTACCATAAAAACAAAATATACTGATAATCTGGCCATGGCCTGACACTTTCTTTTTCCTTTTCCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCTCAGGCTGGAGTGCAATGGTGTGATCTCAGCTCACCGCAACCTCTGCCTGCAGGGTTCAAGCTACTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATCACAGGCATGTACCACCACTCCCTGCTAATTTTGTATTTTTAGTAGAGAACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCAACCTCAGGTGATCTGCCCGCCTCGACCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACCCCCAGGCTAGACACTTTCTTATTGAGCTTATTTCACAGATGTTGTAAGTACGAAGAAATGTACATCTCAGCAGTGATGAGTTCTTTGGGCTGGGACTAGATACCGGAGGGCTTTGAAGCCAGGGTAGGTGGTGCCTGGTTGAGTCCAAGGTGAGGAGAATGGCTGAAGGCCTGGGAGGACCACCTGGTGTGGTGGCAGAGCCGGCCTGGGCTTAGGAGCTCAGCTCTGCCTCCGCCCCAACTACTGGGTCTCGGGGGCCAGTTGCTTTAACTCTCAGAGCCTCAGTTTTCTCACCTGTGTTCTGCAAGAAGGATGGTAGAGGCTGCCTCTCATGCCTCCTGAGGCTGTTAACAGAAGGAGAAGGGAGGTGACAACATAACAGCAGTGCAAGGTGTGGGAGGTAGCGGGCTAGGCACACTCGGCCTGATGCCATGTGCACCCCTCCTTCCCCCTCAGCCACAGGCCTAATGATTGGCTGCCTGGTCTACCCTGATGGTTGGGACTCAAGTGAGGTGCGGCGCATGTGTGGGGAGCAGACGGGCAAGTACACGCTGGGCCACTGCACCATCCGCTGGGCCTTCATGCTGGCCATCCTCAGCATTGGCGACGCCCTCATCCTCTCCTTCCTGGCCTTCGTGTTGGGCTACCGGCAGGACAAGCTCCTCCCTGACGACTACAAGGCAGATGGAACCGGTAATCACCCAACTCCACAATGGTGTCCCCTGCCTGGAGACCCTGGGATGTGGGTGGGGGTTCATCTTAGCCAGTCCTCTAAGGCTTGGTCCCTGGCCAAGGGATGGGGACACCAAGACTAATCAGACACACCCCTTGTCCTCCCTGAAATCAAAGGCCAGTGGAGGGTTGCAAGCTAGCAGGTGATAAGGCGATCTGTGATAAAGGAATGTCCCCCTCACCCCTCTACACTCTCAGAGGCTATAGGGGAGAGAGCTGCAATCCAGCCTTGGGGGCTAAGTGTGGTCTCCCCTAGAAGGAGGCACTGAGGCGGGGTCTCGAAGTAATATTCCTGGAAGTTTGTTGGTGGAGATGGGGAACAACAGCAGATGAGTTGCTGGGGAGGGAGTGCGACCTTGAGAACAGGCCAATGAGGGTGCAGAAGTGACAGCTCCTGCAGTGCAGCTGGTGGGAGCCCGAGATCCCTGGAGGAACAGCAGCCTTGGGATTCTCGTAATGTTCGTCCTGTTTCAATTCCCTCCCATCCAAATCCTACCTGTCAGTCATAAAAGTCAGCTGTAGCTGATCCTTGAGGCCCAAGCACATCCTCCAGGAAGCCCTCCCTGATTGCTTCCCATTACTCCCTTCTTCCTAGGGTGCCTTTTGCTTCTGTTTCTCATTGGGCTCTTCCCCTGCCTGTCTTGGGCTAATTTTTCAGAGCATAAATTTCTTCCCCAAGTCAAGGGCAAGGCCTGTCTTGCACCCCTGTGAATCCCCAAATGCCTGATCTCAGCAGGTGGCCATCACTGGGGACCTGTTACACCTCAGAAACCTCTCCAGTCTCTTTTCCCCATAGCTGTCTTCACATTAGCCCTTGGATTAGAAGCAGCAGCCAAACTCCTCTGTGCACTATAACCAAGGACTCTTCCCACATGAGGAACTTGAAGCCCAAAAGGGAAAGTCACTCAGAAGTTCCCAGAAAGGCAGTGGCAAAGAAGCCCAGAACTCAGGTCCTCTCTGGCCAAGCCCGGGGCCCACTGCTCCATAAGGAAGTGATAGGAAACATTTCATCCTTCTTTGGGGGTGAGAGAAGGATAACCACCTGTTATGTGGTTAAAGATGAAAACAGGCCGGGCACGGTGGCTCATGCCTATAATCCCAGAACTTTGGGAGGCCGAGGTGGGTGGATCATGAGGTCAAGAGATCAAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAATAGCTGGGTGCGGTGGCTCGCAGCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCTCTTGGACCCAGGAGGCAGAGGTTGAAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAAAAAAAAGAAAAAGAAAACAAATTACTAGAAAGAGCTGGGCCAAGGAGAGAAAAGATTTCTTCTCATCACAGTAGGGTAGATTCCTATAGTTCCTGGGTCAGGGAAAGGCCTAGATCCCGGATCCCTTGAGGATTCTATAAAGGGAAGAAAAAATGAACTAGTAGGGCTGGGTGCAGAGGCTTATGCCTGTAACCCCAGCGCTCTGGGAGGCCAAGGCAGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCACAACCCCATCTCTACTAAAAATACAAAAATTAGCTAGGCTTGGTGGTGTGCCCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATAAACCCAGGGGGCAGAGCTTGCAGT
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TCTTTTCCAGTATTAACTCATTTGAACCTTGCTGTAACCACAACAGGAAGGTTAGGGTTATTATTATGTCCATTTTGTAGATGAGGAAACTGAGGCAAACAAAGCTTAAGTATGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCCGGCGGATCACTTGAACCCAGGAGTTCAAGACCAACCTGGCCAACGTGGCAAAACCCCGTCTCTATGAAAAATACAAAAATTAGCCGGGCATGGTGGTACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAGGCAGGAGAATCACTTGAATCCGGGAGGCGGGTGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAGAAAAGAAAGCTTAAGTTGCTTGCTCTGAGTCACATAGCTAGGTAGCAGAGAACTGGGTTTGAAATCCAGGCAGCCTAGTCTAGTGTTTCCCAGCTTTTCCTACTGAGAAAATCACCTGGAAGAGTGCTTTTGAAAACAGGGATTATTGAACCCAACCATGACCTAGGAACTAGCATTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGGTCTGTTGCCCAGGCTGGAGTGCAGGGGCGCCATCTCGGCTCACTGTAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCATCATGCCCGGCTAATTTTTGTATTTTTAGGAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTAATCCGTCCACCTCGACCTCCCAAAGTCCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCTCCAGGGGATTCTTAAATTTAGGGACGTGTAGCAACTGGACTATGCTGTACTGGGTAAGAGTGAGGAGGAAACCTGTTTGCTTGAATGGAAGGCTTTTGAAGGAAGCAGCCAGGGACAGTCTGGAAAGCCTTCCTGTATACATTAAATCTAAGATACCTGAGTTGTAGGACACACTGTTATTCTATGTACCATAAAAACAAAATATACTGATAATCTGGCCATGGCCTGACACTTTCTTTTTCCTTTTCCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCTCAGGCTGGAGTGCAATGGTGTGATCTCAGCTCACCGCAACCTCTGCCTGCAGGGTTCAAGCTACTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATCACAGGCATGTACCACCACTCCCTGCTAATTTTGTATTTTTAGTAGAGAACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCAACCTCAGGTGATCTGCCCGCCTCGACCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACCCCCAGGCTAGACACTTTCTTATTGAGCTTATTTCACAGATGTTGTAAGTACGAAGAAATGTACATCTCAGCAGTGATGAGTTCTTTGGGCTGGGACTAGATACCGGAGGGCTTTGAAGCCAGGGTAGGTGGTGCCTGGTTGAGTCCAAGGTGAGGAGAATGGCTGAAGGCCTGGGAGGACCACCTGGTGTGGTGGCAGAGCCGGCCTGGGCTTAGGAGCTCAGCTCTGCCTCCGCCCCAACTACTGGGTCTCGGGGGCCAGTTGCTTTAACTCTCAGAGCCTCAGTTTTCTCACCTGTGTTCTGCAAGAAGGATGGTAGAGGCTGCCTCTCATGCCTCCTGAGGCTGTTAACAGAAGGAGAAGGGAGGTGACAACATAACAGCAGTGCAAGGTGTGGGAGGTAGCGGGCTAGGCACACTCGGCCTGATGCCATGTGCACCCCTCCTTCCCCCTCAGCCACAGGCCTAATGATTGGCTGCCTGGTCTACCCTGATGGTTGGGACTCAAGTGAGGTGCGGCGCATGTGTGGGGAGCAGACGGGCAAGTACACGCTGGGCCACTGCACCATCCGCTGGGCCTTCATGCTGGCCATCCTCAGCATTGGCGACGCCCTCATCCCCTCCTTCCTGGCCTTCGTGTTGGGCTACCGGCAGGACAAGCTCCTCCCTGACGACTACAAGGCAGATGGAACCGGTAATCACCCAACTCCACAATGGTGTCCCCTGCCTGGAGACCCTGGGATGTGGGTGGGGGTTCATCTTAGCCAGTCCTCTAAGGCTTGGTCCCTGGCCAAGGGATGGGGACACCAAGACTAATCAGACACACCCCTTGTCCTCCCTGAAATCAAAGGCCAGTGGAGGGTTGCAAGCTAGCAGGTGATAAGGCGATCTGTGATAAAGGAATGTCCCCCTCACCCCTCTACACTCTCAGAGGCTATAGGGGAGAGAGCTGCAATCCAGCCTTGGGGGCTAAGTGTGGTCTCCCCTAGAAGGAGGCACTGAGGCGGGGTCTCGAAGTAATATTCCTGGAAGTTTGTTGGTGGAGATGGGGAACAACAGCAGATGAGTTGCTGGGGAGGGAGTGCGACCTTGAGAACAGGCCAATGAGGGTGCAGAAGTGACAGCTCCTGCAGTGCAGCTGGTGGGAGCCCGAGATCCCTGGAGGAACAGCAGCCTTGGGATTCTCGTAATGTTCGTCCTGTTTCAATTCCCTCCCATCCAAATCCTACCTGTCAGTCATAAAAGTCAGCTGTAGCTGATCCTTGAGGCCCAAGCACATCCTCCAGGAAGCCCTCCCTGATTGCTTCCCATTACTCCCTTCTTCCTAGGGTGCCTTTTGCTTCTGTTTCTCATTGGGCTCTTCCCCTGCCTGTCTTGGGCTAATTTTTCAGAGCATAAATTTCTTCCCCAAGTCAAGGGCAAGGCCTGTCTTGCACCCCTGTGAATCCCCAAATGCCTGATCTCAGCAGGTGGCCATCACTGGGGACCTGTTACACCTCAGAAACCTCTCCAGTCTCTTTTCCCCATAGCTGTCTTCACATTAGCCCTTGGATTAGAAGCAGCAGCCAAACTCCTCTGTGCACTATAACCAAGGACTCTTCCCACATGAGGAACTTGAAGCCCAAAAGGGAAAGTCACTCAGAAGTTCCCAGAAAGGCAGTGGCAAAGAAGCCCAGAACTCAGGTCCTCTCTGGCCAAGCCCGGGGCCCACTGCTCCATAAGGAAGTGATAGGAAACATTTCATCCTTCTTTGGGGGTGAGAGAAGGATAACCACCTGTTATGTGGTTAAAGATGAAAACAGGCCGGGCACGGTGGCTCATGCCTATAATCCCAGAACTTTGGGAGGCCGAGGTGGGTGGATCATGAGGTCAAGAGATCAAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAATAGCTGGGTGCGGTGGCTCGCAGCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCTCTTGGACCCAGGAGGCAGAGGTTGAAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAAAAAAAAGAAAAAGAAAACAAATTACTAGAAAGAGCTGGGCCAAGGAGAGAAAAGATTTCTTCTCATCACAGTAGGGTAGATTCCTATAGTTCCTGGGTCAGGGAAAGGCCTAGATCCCGGATCCCTTGAGGATTCTATAAAGGGAAGAAAAAATGAACTAGTAGGGCTGGGTGCAGAGGCTTATGCCTGTAACCCCAGCGCTCTGGGAGGCCAAGGCAGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCACAACCCCATCTCTACTAAAAATACAAAAATTAGCTAGGCTTGGTGGTGTGCCCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATAAACCCAGGGGGCAGAGCTTGCAGT
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Task1_train_10249
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Given this variant in gene SLC26A8 (solute carrier family 26 member 8) on Chromosome 6, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Spermatogenic failure 3
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AGACTAATACAGCCTTGTTGCAGTTGTGGCAGAAAGGACCCAAGTCTAGACTCTATGACTTAATGGTGCAAGTGTCAGAAGCCATTGATTCTGTGTTTACAGACTTTACTCTAATGGATACATGGGACTAGAAGGGAACTGGAGTGAGAAGGCAGCAGCCCGCAGAAACTGGGCTCTCTGTGCACTTCTTAGTCTCCTGTTATAAATGTGAAATGTTTCCTTGGCTTTGGCAGATTTCTGTGCCTGTCCCTGCCATCCTGACAACTTATTCCTGGTTTGACATTTCTAGTTGAGCCCTTGGTATCATAGCCTCCATCTAGTTGTGCCCCAGGATATTCAGCTTCTGTTCTCATCCATGGCCACCGCTCTTGGTTTCCCATTTGGTCCTGCTCTTCTAGTAGTCATTGGAACTTGCTTTAAGCCTATCTCCTACTCATCCTTCAGGATCTCAAGTCATATGTCATTGCCTTGGGAAGAACTTCCTTGAGACTCAAGACTAGGTCAGGTCTCTTGATACATGCCCCAAGAGTTTCTTGTGTTTCACCTTCACAATTTGTAATTTATTGCTTTTCACAATTTGTAATTATTTTTGTCATCTGTTCTATACTCATCCTATATCTTCAGCACCTGGGACAGTGCTTAGCACAGAGTAGGTGTTCAATAAATGTGTTCAGTAAACATGAAACAATGAAGCTTGTGACTTTGGCCCCTACCTCTTTTTGTATTTACAAGGTCATATTGCACATTATATCTCAGTTTATGCATGTATAAATTAGGATAATATTATTTTACCTACCTCACAGTTCAAGGTGCTATGCATGTAGCAGATGCATGTAACAAAATGCTTGTAGAATGAGTGAATGCATGTGCTATCTCTATGATAAAAGAAATCTATATTTTAACTAAGATTTATTTCACTTAACAAGAGAAATGGAGTACCCAAACAGGAGGAGTCATGTTTTTTGAGCTGGAAATAAAATTCAGGATTTCATATACCTTTGCCCAGGGGTCTATATTTTTCTTCTGGTCATACTTTAATACTAGACATATTTTAAATGGGGAAGGGGGAAATTTTTTGAATGGATTTGGACAAAACTAGTAATGATTGACTTTTCCAACTTCTAGGCTGGTTGTGGCTGTCACAGATTTTAACTCCTCGGTGCACCAAGAGTACAGATTCCAAATTGCCTATATCTTAAAAACTTGTAAGAAAGAAGCAATGGTGAATGTGAATCTGAACACCAGGGAGAGTTCCAGAAAGGGAATTCCCATCAGTTGGTACTACTAATTGGCCTTATGAAACGAGTGGCAGGATAAGATCTTGACCTCTGAGAATGACAGCAAAAGTGCTCTCAGCTTAGCAGGACCTGGTACTACAAGTCTCACAGGCTGGCTTACCTTTGGCCTGGATTAACCTGCCTGTTTTCCCCATTTCCCCTATCAGTACAGGGAAAATACCTTGCATATAAAATACAAATGCTACTTAATTTTTCTTTTTCTTGTTCATCTCTTCTCCATGATGTCCACTCCCTTCCAGGATCCCTCCTATTTGACATTTCCTTCAGGATACAGAATACAGAGAAGGGAGAAGGTGCAGGAAGGATCCAAATGTTACTAGAGTTATACATTTTATTTGAGCTTCATCTCTTTGGAGAAAGGGGAACAGGGATGAGAGGATTAAGTTAGAGATGGTCTGGCACAAAGCCCAGAGATGTGGGGTGTGTGAAGAAGGAAATTCATGACTAGAATATATGCTGAAGGTGAAATGAGGGGAGCCTGGATAGGGAATTCAGAGATAATTGTTGGCATTTAGTAATGTGATTTGGGAGTATGATCCCAGCGCAGAGCAAGGAAGAAGGCTGGCAGGTAGTAGGAGTCACAGTCAGGAAGGAAGTACTGCTAGTTCGTATCCAGTCTAGGTCTCTGGACAATTGACCCCTTTTTGGGTAGGAGGATTTGCCAGCATTATCTGACCCCTTATTTCTAGTTCATCTCCTAGACATCTTCATTGCTGTTGCCCTCTGGTGAGTATGAATCCATAGGATGGCGTCTCCTCTCCACTGACCATGTCCGAGTCTGAGTCTGAGACTGGGTGGAAGCCATAGACGGATGATACATAGGCCAGTAACGCTGCTGAGGAAAAGTGTGAGCTCTTGGCCTAGATTTGGGGTTGGGCTCCATCTCAGGCTCAGTCTCAGGCTGGGGCTCCATCTCGGTCTGGGTCTTGGTCTCGGTCTCAGCCTTGGGCTCCATTTCAGGCTCCAGCTCCCGATCCAGGTCTAGGTCCAGACCCAGCCCAGCCTCTTGTTCTGATTCCAGCTCCAAATCCAACTCCGACTCCTCTTCTACAGGCTGTTGGATCTTGATGAAGCCTGGACTTACATTTTTTTGGCTTCCTAGAAAACTGCTGCTCATTTTATATCTTGAATTGTCATTCTGAAATACAATTAGGTGGGTTAAAATTTCTAATTAAATTTAACCTTCTGCTGAACGCAGTGGCTCATACCTGTAATCCCAGCACTTTGAGAGGCTGGGGCAGGAGAATCGCTTTAGACCAGGAGTTCAAGGCCAGCCTGGGCAACATAGTAAAACTTCTATCTTAACAAATAATAATAATAATTATAATTATTATATAATAATAATAATTATTATTATTTTAAAAACTAGTTGGGCATGATGGCACATGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGGCAGGAGGATTGCTTGAGGCTGAGACTGCAGTGAGCTGTGTTTACACCGCTGCACTCCAGCCTGAGCAACACAGTGAGACTGTCTCAAAAAACAAACAAACAAAAAAACCCAGAATTTTAATTTTTGAGCAGTCAAGGAATTTCAGAATACAACAGGACTTAAGGTACCAGAACCATGGGTTCCTTGCAGAGTAGAAAATATTTCTTGCCTAAATCTACTTTTCTGTTTATTATTATTATTAATTTTGACACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTACTTCCCGAATTCAAGTGATTCTCTTGCCTCAGCCTCCCAAGTAGTTGGGACTACAGATATGCACCACCACGACTGGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGAGCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAACCTTTATTTATTTTTCATTAAAATTTTTTTTAATTTTCTTTAAAATGCCAATGACATCATCCATAAATCTGCTTTTCATCTTCTTTCTACCTTCTGGTTTCTCAGTTACTCACTATTCTTCAGACTCAATCAATTTCCAACTTAGAATTTCTCTGGCTTTTCTAGCTAGACCGGATTTCATGACCAACCATTTAAAACAGCAATGGACTTAACAACATTCTGAAACATCTTGTCTTCTTGATCTTACTTGTCTTGCCAACCCCCAGTGCAATCCTTGACAGGGCCTATAAGGCTGTGTGTGACCTGGCCTCTTGCCATTCTTCTTTAGCTTTATTCCAGCTGTGGTCCCCGCCCTTTGCTCTCACCATAAAGTTACCCAGAGTTGCCTGACTACTGCTCAGCTTTGTGCGTGCCATTCCCTTTGCCTACCTTGTCCTCCTCCATCTTGTCCACATCCACTTAGTCATCACCCCAGATTCAGAGCCAAGATGACCAGGCAGGACCACAGCTTCTTTTGTGTTCCAACTACATCTCATTCACACTTCCATCATAGTACCAGTAACATATTCTTTATTTATTTACAAACCTACTCCTTACTAGACTCTAAGCTCCTTGTGGTATATGACAGGGCCTGGTTCTTGATATCCCCAGTACCAGACACTGAGCTTGTCACATAGCAGGTGCCCACAGGCCTTGCATCAGCCTTGAATCAGCCTGTAACAGCATTCCTCAAAATTAATCACTTCAACTTTCCTGAAACATTTTCTTCTCGACCACCATATGACACTCTTCTGCTTTTCCTCCTTCCTTCCTGGTTGCTGCTCCTTGGTCTTTTTGCTATCTCCTCTCCTTC
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AGACTAATACAGCCTTGTTGCAGTTGTGGCAGAAAGGACCCAAGTCTAGACTCTATGACTTAATGGTGCAAGTGTCAGAAGCCATTGATTCTGTGTTTACAGACTTTACTCTAATGGATACATGGGACTAGAAGGGAACTGGAGTGAGAAGGCAGCAGCCCGCAGAAACTGGGCTCTCTGTGCACTTCTTAGTCTCCTGTTATAAATGTGAAATGTTTCCTTGGCTTTGGCAGATTTCTGTGCCTGTCCCTGCCATCCTGACAACTTATTCCTGGTTTGACATTTCTAGTTGAGCCCTTGGTATCATAGCCTCCATCTAGTTGTGCCCCAGGATATTCAGCTTCTGTTCTCATCCATGGCCACCGCTCTTGGTTTCCCATTTGGTCCTGCTCTTCTAGTAGTCATTGGAACTTGCTTTAAGCCTATCTCCTACTCATCCTTCAGGATCTCAAGTCATATGTCATTGCCTTGGGAAGAACTTCCTTGAGACTCAAGACTAGGTCAGGTCTCTTGATACATGCCCCAAGAGTTTCTTGTGTTTCACCTTCACAATTTGTAATTTATTGCTTTTCACAATTTGTAATTATTTTTGTCATCTGTTCTATACTCATCCTATATCTTCAGCACCTGGGACAGTGCTTAGCACAGAGTAGGTGTTCAATAAATGTGTTCAGTAAACATGAAACAATGAAGCTTGTGACTTTGGCCCCTACCTCTTTTTGTATTTACAAGGTCATATTGCACATTATATCTCAGTTTATGCATGTATAAATTAGGATAATATTATTTTACCTACCTCACAGTTCAAGGTGCTATGCATGTAGCAGATGCATGTAACAAAATGCTTGTAGAATGAGTGAATGCATGTGCTATCTCTATGATAAAAGAAATCTATATTTTAACTAAGATTTATTTCACTTAACAAGAGAAATGGAGTACCCAAACAGGAGGAGTCATGTTTTTTGAGCTGGAAATAAAATTCAGGATTTCATATACCTTTGCCCAGGGGTCTATATTTTTCTTCTGGTCATACTTTAATACTAGACATATTTTAAATGGGGAAGGGGGAAATTTTTTGAATGGATTTGGACAAAACTAGTAATGATTGACTTTTCCAACTTCTAGGCTGGTTGTGGCTGTCACAGATTTTAACTCCTCGGTGCACCAAGAGTACAGATTCCAAATTGCCTATATCTTAAAAACTTGTAAGAAAGAAGCAATGGTGAATGTGAATCTGAACACCAGGGAGAGTTCCAGAAAGGGAATTCCCATCAGTTGGTACTACTAATTGGCCTTATGAAACGAGTGGCAGGATAAGATCTTGACCTCTGAGAATGACAGCAAAAGTGCTCTCAGCTTAGCAGGACCTGGTACTACAAGTCTCACAGGCTGGCTTACCTTTGGCCTGGATTAACCTGCCTGTTTTCCCCATTTCCCCTATCAGTACAGGGAAAATACCTTGCATATAAAATACAAATGCTACTTAATTTTTCTTTTTCTTGTTCATCTCTTCTCCATGATGTCCACTCCCTTCCAGGATCCCTCCTATTTGACATTTCCTTCAGGATACAGAATACAGAGAAGGGAGAAGGTGCAGGAAGGATCCAAATGTTACTAGAGTTATACATTTTATTTGAGCTTCATCTCTTTGGAGAAAGGGGAACAGGGATGAGAGGATTAAGTTAGAGATGGTCTGGCACAAAGCCCAGAGATGTGGGGTGTGTGAAGAAGGAAATTCATGACTAGAATATATGCTGAAGGTGAAATGAGGGGAGCCTGGATAGGGAATTCAGAGATAATTGTTGGCATTTAGTAATGTGATTTGGGAGTATGATCCCAGCGCAGAGCAAGGAAGAAGGCTGGCAGGTAGTAGGAGTCACAGTCAGGAAGGAAGTACTGCTAGTTCGTATCCAGTCTAGGTCTCTGGACAATTGACCCCTTTTTGGGTAGGAGGATTTGCCAGCATTATCTGACCCCTTATTTCTAGTTCATCTCCTAGACATCTTCATTGCTGTTGCCCTCTGGTGAGTATGAATCCATAGGATGGCATCTCCTCTCCACTGACCATGTCCGAGTCTGAGTCTGAGACTGGGTGGAAGCCATAGACGGATGATACATAGGCCAGTAACGCTGCTGAGGAAAAGTGTGAGCTCTTGGCCTAGATTTGGGGTTGGGCTCCATCTCAGGCTCAGTCTCAGGCTGGGGCTCCATCTCGGTCTGGGTCTTGGTCTCGGTCTCAGCCTTGGGCTCCATTTCAGGCTCCAGCTCCCGATCCAGGTCTAGGTCCAGACCCAGCCCAGCCTCTTGTTCTGATTCCAGCTCCAAATCCAACTCCGACTCCTCTTCTACAGGCTGTTGGATCTTGATGAAGCCTGGACTTACATTTTTTTGGCTTCCTAGAAAACTGCTGCTCATTTTATATCTTGAATTGTCATTCTGAAATACAATTAGGTGGGTTAAAATTTCTAATTAAATTTAACCTTCTGCTGAACGCAGTGGCTCATACCTGTAATCCCAGCACTTTGAGAGGCTGGGGCAGGAGAATCGCTTTAGACCAGGAGTTCAAGGCCAGCCTGGGCAACATAGTAAAACTTCTATCTTAACAAATAATAATAATAATTATAATTATTATATAATAATAATAATTATTATTATTTTAAAAACTAGTTGGGCATGATGGCACATGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGGCAGGAGGATTGCTTGAGGCTGAGACTGCAGTGAGCTGTGTTTACACCGCTGCACTCCAGCCTGAGCAACACAGTGAGACTGTCTCAAAAAACAAACAAACAAAAAAACCCAGAATTTTAATTTTTGAGCAGTCAAGGAATTTCAGAATACAACAGGACTTAAGGTACCAGAACCATGGGTTCCTTGCAGAGTAGAAAATATTTCTTGCCTAAATCTACTTTTCTGTTTATTATTATTATTAATTTTGACACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTACTTCCCGAATTCAAGTGATTCTCTTGCCTCAGCCTCCCAAGTAGTTGGGACTACAGATATGCACCACCACGACTGGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGAGCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAACCTTTATTTATTTTTCATTAAAATTTTTTTTAATTTTCTTTAAAATGCCAATGACATCATCCATAAATCTGCTTTTCATCTTCTTTCTACCTTCTGGTTTCTCAGTTACTCACTATTCTTCAGACTCAATCAATTTCCAACTTAGAATTTCTCTGGCTTTTCTAGCTAGACCGGATTTCATGACCAACCATTTAAAACAGCAATGGACTTAACAACATTCTGAAACATCTTGTCTTCTTGATCTTACTTGTCTTGCCAACCCCCAGTGCAATCCTTGACAGGGCCTATAAGGCTGTGTGTGACCTGGCCTCTTGCCATTCTTCTTTAGCTTTATTCCAGCTGTGGTCCCCGCCCTTTGCTCTCACCATAAAGTTACCCAGAGTTGCCTGACTACTGCTCAGCTTTGTGCGTGCCATTCCCTTTGCCTACCTTGTCCTCCTCCATCTTGTCCACATCCACTTAGTCATCACCCCAGATTCAGAGCCAAGATGACCAGGCAGGACCACAGCTTCTTTTGTGTTCCAACTACATCTCATTCACACTTCCATCATAGTACCAGTAACATATTCTTTATTTATTTACAAACCTACTCCTTACTAGACTCTAAGCTCCTTGTGGTATATGACAGGGCCTGGTTCTTGATATCCCCAGTACCAGACACTGAGCTTGTCACATAGCAGGTGCCCACAGGCCTTGCATCAGCCTTGAATCAGCCTGTAACAGCATTCCTCAAAATTAATCACTTCAACTTTCCTGAAACATTTTCTTCTCGACCACCATATGACACTCTTCTGCTTTTCCTCCTTCCTTCCTGGTTGCTGCTCCTTGGTCTTTTTGCTATCTCCTCTCCTTC
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Task1_train_10250
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This variant lies on Chromosome 6 and affects the gene SLC26A8 (solute carrier family 26 member 8). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Spermatogenic failure 3
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GATGTATCCATATAGTAGAATATTACTAAGCAATAAAAATGAACTATTGATACACACAACAATTTGCGTGAATCTCAAAGGCACAATGCATAATGAAAGAAGCCAGCCTTTGAAATTTACATACTGTATGATTCCATTTATATGATGTGCTCAAAAAGACAGAATTATGGTGCTGGAGAACAGATCAATGGTTGCTAGGGGTTATAGATTGGGGGGTATGTGGCTTAAAAAGCATGGCATGAGAGAGTTCTGGAGGTGATGGAACTACTCTGCATCAATTGTGGTGGTGGTTACACAAATCTATATATGTATTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGATCTCAATCAATCTGCCTGCCCAGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCAGTCCCAGCCAAGTGGGTTAAAATCAATCTGAGTATACACCAAAAGGGGAAAAAAAGCGCCAATTTTACTATTTGATAATTTAGAAACAAATAAGTAAATAAAGATTTAAAAAGTTATCTGTTTTCCCCAATTAACAGTGCTGTGCTAGAGTTGGATTTCAGCCACAGCTTGTTCATGTTCTTGACCTCTTTTGTGCTATCCACAACCTGCCCGATCACAAGCTTCAACCCTGCCTGTTGAGCCTCAGAAAAATAGAGAAATGGAGGTATTTAAAGACTATCTGGGGAACTATAAACTACTGTGAGTAAAGGATTTATAAAACCCATTCTATTTTTTGAGGATGAATTTGATCTGGGGTTAACTTTCTAGCTCTGTTTCCCTGGAAACCTTATAATGGTAGAACGTCAGCTGTGTTACCGGGCAGAATTGCTTATGGTAAAAATGAACCCAAATAGTATATTCCATCTGGACCAAGAGGACTGTGAATGAAAGATAAATATCCAGTTGGAAGCCCTACCTTTGGGATTCTCTGAGCATAGTGACTCTTACAACTGGACTTGCCCATTGTGGGACTCTGGAAGCAATATTTATGGCACTGTTACAAAGTTGTTGATTCCTATTTGGGAAATGAGTTTTTAAAGCCCAGATAAGCTCCCACACCTATCTGTGTGATCTTGTTGTCTTACATCTGAACTGCTACTTGGAAGACCAAAGAGTGAGCACTGGATTGCTTGTCACTTGCTGGAGAGATGCTGGCATGCTATGTTTCCTATCCTTCACCTTTTTTTTCTTTTCTGAGACAGGGTCTTGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCACTGCTCACTACAGTCTCGACCTCCTGGGCTCAGGTGATCCTCCCACCTTGGCCTCCAGAGTAACTAAGACTACAGGCACACGTTACCAGGCCCCGCTAATTTTTGTATTTTTTTGTAGAGACAGAGTTTCACTGTGTTAGCCAGGCTGGTCTGGAACTCCTGAGCTCAAGCAATCTGTCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTATGCCCACCTATCCTTCCCCTTTCTAGGTAAAACCAATGCCAAGTGAGATGTATTATAGCCATAAGCATGAAATAACTAGTGAAGGGAAAAAATAACAAAGAGTGGGTGTTACAAATACTCTGGAAAGCATTCAGGGGTCTAAAGTAAACCAAGTCTTTTGGAACCACCCTGGAGAGGTTAGAAATCTGGCAGATAAGGGAACAAATGGTAATGCTGTGAATAAAATTCAATATTTTTTTTCTATTCATGTAGCACAAGTAATTGTTTACCCTGGGCACGTGGACAAGGTCTGATACATTGTCTTTGGATGAACAGGCTTCATATCTTCCTTACCTTGGGGAACTTGCACAAGGCCAACACTTATACCAGCAAGTAAGTCTCCCAGAAGCCAATCCTTTAATCGATACATACACATCCATTCTAGGAAGGGAAAGATTGTAAGCACGCATCGTAGGAACCTGTGCCATGAGCAGCTGTGAGAGAGAGGAGCAGAGACTTGGTTAGTTTCTCCAAAGAAAATGCCCGCATAGCCAAGAAAAGGCATTTGGCCCACATAGCCAAGAAAAAGTAGAGTCTTGTCAGCACTAATGAGAGTTTGACATATTGGACCAGATAATTCTTTGTTGTTGGGCTGTCCTGTGCATTGCAGGATGTTTAGCAGCATCCCTCGTCTCTACACATTCCCACATTTGATATCAGTAGAACTCCCCGCTTCAGCTGTGACAGCTAACAATAACAATGTCTCCAGACATCGCCACATGTTCCCTGGGGGACTAAATCACCTTAGCTTCAGAACCAAGTGCTATGTATATGTCAAGAACTAAGCCATATACGTCCAGCATGTAATCAGTTCTGTGTTTTCACAGGATATTTGGGAAGAATTAAACCTACCAATTTTCCAGTAGAAAAATGGACTGCTGTTGTTTTCTTTTGACAAGGACAGTGTTTTGAGGTGTGACATTGATAGGTGGAAGGGCAGTTAACACATTCATGTTATTCCCAATTAGGAGAGTCCCCAAGTGCGAGGCAGGTGCATAAAGTGTGTTCTTTCTAATTATGACCCTCTGTGGAGGAGAGGAGAGCATGGAACTAAAATTTTTACCAAACATTTACTCTGTCTGGCCTTGACCTGTGACATGTAGAAATTAGTAGAAAATAGAGAATATGAAGTCCTGTGCTTAAGGACTTAGTTATGTAAGGAAACAACTTTATAAAATAAGACTTTATTATCCTTTAGCCCAGTAGATCTCAACTAGGTGCAGTTTTGTTCCCCTGTGTACATGTGGCAATGTCCAGAGACTTTTTTTTTTTTTTTTAGATGGAGTCTTGCTCTTTCGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTCTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCAGGTGATCTGCTCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCATAAGCCACCGTGCCTGGCCCGGAGACATTTTTGATTCTTGCAATTGGCAAGTGGGTAGAGGCTAAACATCACAGAATACACAGGCCAATTCTCCACAAGAAAGAATTTTCTGGTCCAAAATGTCAATGATGCTGAGATTGAGAAAACCTGCTTTAACTTTTAGATCATCTAAAACAACAGAATCATCATTAATCAACCAAGAAAACCAATTTGGTTTTAAATTGTTTTTCATTATTTAGATTTTAGCAGGGGTTGAAAGTAAAAAGTATGAAGATTTTTCATGTGTAAACTGAGCTAGATAATTGGGATTTGACTACAACAACAAATATAACTTTAACGTAGTCAGGGCTGAAGTGCATGCTCAGACAAAAAGTAATTTTACTTATGTTTTACTGTTACAACTATGGCATTACTATTGCTAAGGTAATTAATGCCAAATAAATATGACTTTACCAAGGTCACAGGAATAAGTGTGAGTAGAGATGGGGCTAGAAACAAGGTCCTTGATTTCTAGCTCAGTGTTCTAGCCACTCTCCTGCCTCCAAATTTCCTATTGGCAGCTGTGAAATGCTGCTCGGCAGCCATGAGTAAGACCATTGGTTTGGAAGGAACATCACATTGCTGTTCTTAGGAGAGTCCCTGGGTGTGTGGCAGGTGTACAAAATATGCTCTTTCTAATTATGAGCCTCTGTGGAGAAGAGTAGAGCATGGCACTGGAACAGTTTGTTCCTTCACCTGGTTCAGTCTGCCTTCCTCTCTGTGTGTCACTTAGGGAAAGACCAGCCAGCCACCCAAGGCAAAGTCATCAAAGCTCTTCCCCATGGTGAAAAATACAATGGACACGGAGTGATGAGGCT
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GATGTATCCATATAGTAGAATATTACTAAGCAATAAAAATGAACTATTGATACACACAACAATTTGCGTGAATCTCAAAGGCACAATGCATAATGAAAGAAGCCAGCCTTTGAAATTTACATACTGTATGATTCCATTTATATGATGTGCTCAAAAAGACAGAATTATGGTGCTGGAGAACAGATCAATGGTTGCTAGGGGTTATAGATTGGGGGGTATGTGGCTTAAAAAGCATGGCATGAGAGAGTTCTGGAGGTGATGGAACTACTCTGCATCAATTGTGGTGGTGGTTACACAAATCTATATATGTATTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGATCTCAATCAATCTGCCTGCCCAGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCAGTCCCAGCCAAGTGGGTTAAAATCAATCTGAGTATACACCAAAAGGGGAAAAAAAGCGCCAATTTTACTATTTGATAATTTAGAAACAAATAAGTAAATAAAGATTTAAAAAGTTATCTGTTTTCCCCAATTAACAGTGCTGTGCTAGAGTTGGATTTCAGCCACAGCTTGTTCATGTTCTTGACCTCTTTTGTGCTATCCACAACCTGCCCGATCACAAGCTTCAACCCTGCCTGTTGAGCCTCAGAAAAATAGAGAAATGGAGGTATTTAAAGACTATCTGGGGAACTATAAACTACTGTGAGTAAAGGATTTATAAAACCCATTCTATTTTTTGAGGATGAATTTGATCTGGGGTTAACTTTCTAGCTCTGTTTCCCTGGAAACCTTATAATGGTAGAACGTCAGCTGTGTTACCGGGCAGAATTGCTTATGGTAAAAATGAACCCAAATAGTATATTCCATCTGGACCAAGAGGACTGTGAATGAAAGATAAATATCCAGTTGGAAGCCCTACCTTTGGGATTCTCTGAGCATAGTGACTCTTACAACTGGACTTGCCCATTGTGGGACTCTGGAAGCAATATTTATGGCACTGTTACAAAGTTGTTGATTCCTATTTGGGAAATGAGTTTTTAAAGCCCAGATAAGCTCCCACACCTATCTGTGTGATCTTGTTGTCTTACATCTGAACTGCTACTTGGAAGACCAAAGAGTGAGCACTGGATTGCTTGTCACTTGCTGGAGAGATGCTGGCATGCTATGTTTCCTATCCTTCACCTTTTTTTTCTTTTCTGAGACAGGGTCTTGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCACTGCTCACTACAGTCTCGACCTCCTGGGCTCAGGTGATCCTCCCACCTTGGCCTCCAGAGTAACTAAGACTACAGGCACACGTTACCAGGCCCCGCTAATTTTTGTATTTTTTTGTAGAGACAGAGTTTCACTGTGTTAGCCAGGCTGGTCTGGAACTCCTGAGCTCAAGCAATCTGTCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTATGCCCACCTATCCTTCCCCTTTCTAGGTAAAACCAATGCCAAGTGAGATGTATTATAGCCATAAGCATGAAATAACTAGTGAAGGGAAAAAATAACAAAGAGTGGGTGTTACAAATACTCTGGAAAGCATTCAGGGGTCTAAAGTAAACCAAGTCTTTTGGAACCACCCTGGAGAGGTTAGAAATCTGGCAGATAAGGGAACAAATGGTAATGCTGTGAATAAAATTCAATATTTTTTTTCTATTCATGTAGCACAAGTAATTGTTTACCCTGGGCACGTGGACAAGGTCTGATACATTGTCTTTGGATGAACAGGCTTCATATCTTCCTTACCTTGGGGAACTTGCACAAGGCCAACACTTATACCAGCAGGTAAGTCTCCCAGAAGCCAATCCTTTAATCGATACATACACATCCATTCTAGGAAGGGAAAGATTGTAAGCACGCATCGTAGGAACCTGTGCCATGAGCAGCTGTGAGAGAGAGGAGCAGAGACTTGGTTAGTTTCTCCAAAGAAAATGCCCGCATAGCCAAGAAAAGGCATTTGGCCCACATAGCCAAGAAAAAGTAGAGTCTTGTCAGCACTAATGAGAGTTTGACATATTGGACCAGATAATTCTTTGTTGTTGGGCTGTCCTGTGCATTGCAGGATGTTTAGCAGCATCCCTCGTCTCTACACATTCCCACATTTGATATCAGTAGAACTCCCCGCTTCAGCTGTGACAGCTAACAATAACAATGTCTCCAGACATCGCCACATGTTCCCTGGGGGACTAAATCACCTTAGCTTCAGAACCAAGTGCTATGTATATGTCAAGAACTAAGCCATATACGTCCAGCATGTAATCAGTTCTGTGTTTTCACAGGATATTTGGGAAGAATTAAACCTACCAATTTTCCAGTAGAAAAATGGACTGCTGTTGTTTTCTTTTGACAAGGACAGTGTTTTGAGGTGTGACATTGATAGGTGGAAGGGCAGTTAACACATTCATGTTATTCCCAATTAGGAGAGTCCCCAAGTGCGAGGCAGGTGCATAAAGTGTGTTCTTTCTAATTATGACCCTCTGTGGAGGAGAGGAGAGCATGGAACTAAAATTTTTACCAAACATTTACTCTGTCTGGCCTTGACCTGTGACATGTAGAAATTAGTAGAAAATAGAGAATATGAAGTCCTGTGCTTAAGGACTTAGTTATGTAAGGAAACAACTTTATAAAATAAGACTTTATTATCCTTTAGCCCAGTAGATCTCAACTAGGTGCAGTTTTGTTCCCCTGTGTACATGTGGCAATGTCCAGAGACTTTTTTTTTTTTTTTTAGATGGAGTCTTGCTCTTTCGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTCTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCAGGTGATCTGCTCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCATAAGCCACCGTGCCTGGCCCGGAGACATTTTTGATTCTTGCAATTGGCAAGTGGGTAGAGGCTAAACATCACAGAATACACAGGCCAATTCTCCACAAGAAAGAATTTTCTGGTCCAAAATGTCAATGATGCTGAGATTGAGAAAACCTGCTTTAACTTTTAGATCATCTAAAACAACAGAATCATCATTAATCAACCAAGAAAACCAATTTGGTTTTAAATTGTTTTTCATTATTTAGATTTTAGCAGGGGTTGAAAGTAAAAAGTATGAAGATTTTTCATGTGTAAACTGAGCTAGATAATTGGGATTTGACTACAACAACAAATATAACTTTAACGTAGTCAGGGCTGAAGTGCATGCTCAGACAAAAAGTAATTTTACTTATGTTTTACTGTTACAACTATGGCATTACTATTGCTAAGGTAATTAATGCCAAATAAATATGACTTTACCAAGGTCACAGGAATAAGTGTGAGTAGAGATGGGGCTAGAAACAAGGTCCTTGATTTCTAGCTCAGTGTTCTAGCCACTCTCCTGCCTCCAAATTTCCTATTGGCAGCTGTGAAATGCTGCTCGGCAGCCATGAGTAAGACCATTGGTTTGGAAGGAACATCACATTGCTGTTCTTAGGAGAGTCCCTGGGTGTGTGGCAGGTGTACAAAATATGCTCTTTCTAATTATGAGCCTCTGTGGAGAAGAGTAGAGCATGGCACTGGAACAGTTTGTTCCTTCACCTGGTTCAGTCTGCCTTCCTCTCTGTGTGTCACTTAGGGAAAGACCAGCCAGCCACCCAAGGCAAAGTCATCAAAGCTCTTCCCCATGGTGAAAAATACAATGGACACGGAGTGATGAGGCT
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Task1_train_10251
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Here’s a variant in SLC26A8 (solute carrier family 26 member 8) located on Chromosome 6. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Spermatogenic failure 3
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CAATAAAAATGAACTATTGATACACACAACAATTTGCGTGAATCTCAAAGGCACAATGCATAATGAAAGAAGCCAGCCTTTGAAATTTACATACTGTATGATTCCATTTATATGATGTGCTCAAAAAGACAGAATTATGGTGCTGGAGAACAGATCAATGGTTGCTAGGGGTTATAGATTGGGGGGTATGTGGCTTAAAAAGCATGGCATGAGAGAGTTCTGGAGGTGATGGAACTACTCTGCATCAATTGTGGTGGTGGTTACACAAATCTATATATGTATTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGATCTCAATCAATCTGCCTGCCCAGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCAGTCCCAGCCAAGTGGGTTAAAATCAATCTGAGTATACACCAAAAGGGGAAAAAAAGCGCCAATTTTACTATTTGATAATTTAGAAACAAATAAGTAAATAAAGATTTAAAAAGTTATCTGTTTTCCCCAATTAACAGTGCTGTGCTAGAGTTGGATTTCAGCCACAGCTTGTTCATGTTCTTGACCTCTTTTGTGCTATCCACAACCTGCCCGATCACAAGCTTCAACCCTGCCTGTTGAGCCTCAGAAAAATAGAGAAATGGAGGTATTTAAAGACTATCTGGGGAACTATAAACTACTGTGAGTAAAGGATTTATAAAACCCATTCTATTTTTTGAGGATGAATTTGATCTGGGGTTAACTTTCTAGCTCTGTTTCCCTGGAAACCTTATAATGGTAGAACGTCAGCTGTGTTACCGGGCAGAATTGCTTATGGTAAAAATGAACCCAAATAGTATATTCCATCTGGACCAAGAGGACTGTGAATGAAAGATAAATATCCAGTTGGAAGCCCTACCTTTGGGATTCTCTGAGCATAGTGACTCTTACAACTGGACTTGCCCATTGTGGGACTCTGGAAGCAATATTTATGGCACTGTTACAAAGTTGTTGATTCCTATTTGGGAAATGAGTTTTTAAAGCCCAGATAAGCTCCCACACCTATCTGTGTGATCTTGTTGTCTTACATCTGAACTGCTACTTGGAAGACCAAAGAGTGAGCACTGGATTGCTTGTCACTTGCTGGAGAGATGCTGGCATGCTATGTTTCCTATCCTTCACCTTTTTTTTCTTTTCTGAGACAGGGTCTTGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCACTGCTCACTACAGTCTCGACCTCCTGGGCTCAGGTGATCCTCCCACCTTGGCCTCCAGAGTAACTAAGACTACAGGCACACGTTACCAGGCCCCGCTAATTTTTGTATTTTTTTGTAGAGACAGAGTTTCACTGTGTTAGCCAGGCTGGTCTGGAACTCCTGAGCTCAAGCAATCTGTCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTATGCCCACCTATCCTTCCCCTTTCTAGGTAAAACCAATGCCAAGTGAGATGTATTATAGCCATAAGCATGAAATAACTAGTGAAGGGAAAAAATAACAAAGAGTGGGTGTTACAAATACTCTGGAAAGCATTCAGGGGTCTAAAGTAAACCAAGTCTTTTGGAACCACCCTGGAGAGGTTAGAAATCTGGCAGATAAGGGAACAAATGGTAATGCTGTGAATAAAATTCAATATTTTTTTTCTATTCATGTAGCACAAGTAATTGTTTACCCTGGGCACGTGGACAAGGTCTGATACATTGTCTTTGGATGAACAGGCTTCATATCTTCCTTACCTTGGGGAACTTGCACAAGGCCAACACTTATACCAGCAAGTAAGTCTCCCAGAAGCCAATCCTTTAATCGATACATACACATCCATTCTAGGAAGGGAAAGATTGTAAGCACGCATCGTAGGAACCTGTGCCATGAGCAGCTGTGAGAGAGAGGAGCAGAGACTTGGTTAGTTTCTCCAAAGAAAATGCCCGCATAGCCAAGAAAAGGCATTTGGCCCACATAGCCAAGAAAAAGTAGAGTCTTGTCAGCACTAATGAGAGTTTGACATATTGGACCAGATAATTCTTTGTTGTTGGGCTGTCCTGTGCATTGCAGGATGTTTAGCAGCATCCCTCGTCTCTACACATTCCCACATTTGATATCAGTAGAACTCCCCGCTTCAGCTGTGACAGCTAACAATAACAATGTCTCCAGACATCGCCACATGTTCCCTGGGGGACTAAATCACCTTAGCTTCAGAACCAAGTGCTATGTATATGTCAAGAACTAAGCCATATACGTCCAGCATGTAATCAGTTCTGTGTTTTCACAGGATATTTGGGAAGAATTAAACCTACCAATTTTCCAGTAGAAAAATGGACTGCTGTTGTTTTCTTTTGACAAGGACAGTGTTTTGAGGTGTGACATTGATAGGTGGAAGGGCAGTTAACACATTCATGTTATTCCCAATTAGGAGAGTCCCCAAGTGCGAGGCAGGTGCATAAAGTGTGTTCTTTCTAATTATGACCCTCTGTGGAGGAGAGGAGAGCATGGAACTAAAATTTTTACCAAACATTTACTCTGTCTGGCCTTGACCTGTGACATGTAGAAATTAGTAGAAAATAGAGAATATGAAGTCCTGTGCTTAAGGACTTAGTTATGTAAGGAAACAACTTTATAAAATAAGACTTTATTATCCTTTAGCCCAGTAGATCTCAACTAGGTGCAGTTTTGTTCCCCTGTGTACATGTGGCAATGTCCAGAGACTTTTTTTTTTTTTTTTAGATGGAGTCTTGCTCTTTCGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTCTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCAGGTGATCTGCTCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCATAAGCCACCGTGCCTGGCCCGGAGACATTTTTGATTCTTGCAATTGGCAAGTGGGTAGAGGCTAAACATCACAGAATACACAGGCCAATTCTCCACAAGAAAGAATTTTCTGGTCCAAAATGTCAATGATGCTGAGATTGAGAAAACCTGCTTTAACTTTTAGATCATCTAAAACAACAGAATCATCATTAATCAACCAAGAAAACCAATTTGGTTTTAAATTGTTTTTCATTATTTAGATTTTAGCAGGGGTTGAAAGTAAAAAGTATGAAGATTTTTCATGTGTAAACTGAGCTAGATAATTGGGATTTGACTACAACAACAAATATAACTTTAACGTAGTCAGGGCTGAAGTGCATGCTCAGACAAAAAGTAATTTTACTTATGTTTTACTGTTACAACTATGGCATTACTATTGCTAAGGTAATTAATGCCAAATAAATATGACTTTACCAAGGTCACAGGAATAAGTGTGAGTAGAGATGGGGCTAGAAACAAGGTCCTTGATTTCTAGCTCAGTGTTCTAGCCACTCTCCTGCCTCCAAATTTCCTATTGGCAGCTGTGAAATGCTGCTCGGCAGCCATGAGTAAGACCATTGGTTTGGAAGGAACATCACATTGCTGTTCTTAGGAGAGTCCCTGGGTGTGTGGCAGGTGTACAAAATATGCTCTTTCTAATTATGAGCCTCTGTGGAGAAGAGTAGAGCATGGCACTGGAACAGTTTGTTCCTTCACCTGGTTCAGTCTGCCTTCCTCTCTGTGTGTCACTTAGGGAAAGACCAGCCAGCCACCCAAGGCAAAGTCATCAAAGCTCTTCCCCATGGTGAAAAATACAATGGACACGGAGTGATGAGGCTTTAAGAGTGACAGAAACTAAGGAGGGAATT
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CAATAAAAATGAACTATTGATACACACAACAATTTGCGTGAATCTCAAAGGCACAATGCATAATGAAAGAAGCCAGCCTTTGAAATTTACATACTGTATGATTCCATTTATATGATGTGCTCAAAAAGACAGAATTATGGTGCTGGAGAACAGATCAATGGTTGCTAGGGGTTATAGATTGGGGGGTATGTGGCTTAAAAAGCATGGCATGAGAGAGTTCTGGAGGTGATGGAACTACTCTGCATCAATTGTGGTGGTGGTTACACAAATCTATATATGTATTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGATCTCAATCAATCTGCCTGCCCAGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCAGTCCCAGCCAAGTGGGTTAAAATCAATCTGAGTATACACCAAAAGGGGAAAAAAAGCGCCAATTTTACTATTTGATAATTTAGAAACAAATAAGTAAATAAAGATTTAAAAAGTTATCTGTTTTCCCCAATTAACAGTGCTGTGCTAGAGTTGGATTTCAGCCACAGCTTGTTCATGTTCTTGACCTCTTTTGTGCTATCCACAACCTGCCCGATCACAAGCTTCAACCCTGCCTGTTGAGCCTCAGAAAAATAGAGAAATGGAGGTATTTAAAGACTATCTGGGGAACTATAAACTACTGTGAGTAAAGGATTTATAAAACCCATTCTATTTTTTGAGGATGAATTTGATCTGGGGTTAACTTTCTAGCTCTGTTTCCCTGGAAACCTTATAATGGTAGAACGTCAGCTGTGTTACCGGGCAGAATTGCTTATGGTAAAAATGAACCCAAATAGTATATTCCATCTGGACCAAGAGGACTGTGAATGAAAGATAAATATCCAGTTGGAAGCCCTACCTTTGGGATTCTCTGAGCATAGTGACTCTTACAACTGGACTTGCCCATTGTGGGACTCTGGAAGCAATATTTATGGCACTGTTACAAAGTTGTTGATTCCTATTTGGGAAATGAGTTTTTAAAGCCCAGATAAGCTCCCACACCTATCTGTGTGATCTTGTTGTCTTACATCTGAACTGCTACTTGGAAGACCAAAGAGTGAGCACTGGATTGCTTGTCACTTGCTGGAGAGATGCTGGCATGCTATGTTTCCTATCCTTCACCTTTTTTTTCTTTTCTGAGACAGGGTCTTGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCACTGCTCACTACAGTCTCGACCTCCTGGGCTCAGGTGATCCTCCCACCTTGGCCTCCAGAGTAACTAAGACTACAGGCACACGTTACCAGGCCCCGCTAATTTTTGTATTTTTTTGTAGAGACAGAGTTTCACTGTGTTAGCCAGGCTGGTCTGGAACTCCTGAGCTCAAGCAATCTGTCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTATGCCCACCTATCCTTCCCCTTTCTAGGTAAAACCAATGCCAAGTGAGATGTATTATAGCCATAAGCATGAAATAACTAGTGAAGGGAAAAAATAACAAAGAGTGGGTGTTACAAATACTCTGGAAAGCATTCAGGGGTCTAAAGTAAACCAAGTCTTTTGGAACCACCCTGGAGAGGTTAGAAATCTGGCAGATAAGGGAACAAATGGTAATGCTGTGAATAAAATTCAATATTTTTTTTCTATTCATGTAGCACAAGTAATTGTTTACCCTGGGCACGTGGACAAGGTCTGATACATTGTCTTTGGATGAACAGGCTTCATATCTTCCTTACCTTGGGGAACTTGCACAAGGCCAACACTTATACCAGCAAGTAAGTCTCCCAGAAGCCAATCCTTTAATTGATACATACACATCCATTCTAGGAAGGGAAAGATTGTAAGCACGCATCGTAGGAACCTGTGCCATGAGCAGCTGTGAGAGAGAGGAGCAGAGACTTGGTTAGTTTCTCCAAAGAAAATGCCCGCATAGCCAAGAAAAGGCATTTGGCCCACATAGCCAAGAAAAAGTAGAGTCTTGTCAGCACTAATGAGAGTTTGACATATTGGACCAGATAATTCTTTGTTGTTGGGCTGTCCTGTGCATTGCAGGATGTTTAGCAGCATCCCTCGTCTCTACACATTCCCACATTTGATATCAGTAGAACTCCCCGCTTCAGCTGTGACAGCTAACAATAACAATGTCTCCAGACATCGCCACATGTTCCCTGGGGGACTAAATCACCTTAGCTTCAGAACCAAGTGCTATGTATATGTCAAGAACTAAGCCATATACGTCCAGCATGTAATCAGTTCTGTGTTTTCACAGGATATTTGGGAAGAATTAAACCTACCAATTTTCCAGTAGAAAAATGGACTGCTGTTGTTTTCTTTTGACAAGGACAGTGTTTTGAGGTGTGACATTGATAGGTGGAAGGGCAGTTAACACATTCATGTTATTCCCAATTAGGAGAGTCCCCAAGTGCGAGGCAGGTGCATAAAGTGTGTTCTTTCTAATTATGACCCTCTGTGGAGGAGAGGAGAGCATGGAACTAAAATTTTTACCAAACATTTACTCTGTCTGGCCTTGACCTGTGACATGTAGAAATTAGTAGAAAATAGAGAATATGAAGTCCTGTGCTTAAGGACTTAGTTATGTAAGGAAACAACTTTATAAAATAAGACTTTATTATCCTTTAGCCCAGTAGATCTCAACTAGGTGCAGTTTTGTTCCCCTGTGTACATGTGGCAATGTCCAGAGACTTTTTTTTTTTTTTTTAGATGGAGTCTTGCTCTTTCGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTCTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCAGGTGATCTGCTCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCATAAGCCACCGTGCCTGGCCCGGAGACATTTTTGATTCTTGCAATTGGCAAGTGGGTAGAGGCTAAACATCACAGAATACACAGGCCAATTCTCCACAAGAAAGAATTTTCTGGTCCAAAATGTCAATGATGCTGAGATTGAGAAAACCTGCTTTAACTTTTAGATCATCTAAAACAACAGAATCATCATTAATCAACCAAGAAAACCAATTTGGTTTTAAATTGTTTTTCATTATTTAGATTTTAGCAGGGGTTGAAAGTAAAAAGTATGAAGATTTTTCATGTGTAAACTGAGCTAGATAATTGGGATTTGACTACAACAACAAATATAACTTTAACGTAGTCAGGGCTGAAGTGCATGCTCAGACAAAAAGTAATTTTACTTATGTTTTACTGTTACAACTATGGCATTACTATTGCTAAGGTAATTAATGCCAAATAAATATGACTTTACCAAGGTCACAGGAATAAGTGTGAGTAGAGATGGGGCTAGAAACAAGGTCCTTGATTTCTAGCTCAGTGTTCTAGCCACTCTCCTGCCTCCAAATTTCCTATTGGCAGCTGTGAAATGCTGCTCGGCAGCCATGAGTAAGACCATTGGTTTGGAAGGAACATCACATTGCTGTTCTTAGGAGAGTCCCTGGGTGTGTGGCAGGTGTACAAAATATGCTCTTTCTAATTATGAGCCTCTGTGGAGAAGAGTAGAGCATGGCACTGGAACAGTTTGTTCCTTCACCTGGTTCAGTCTGCCTTCCTCTCTGTGTGTCACTTAGGGAAAGACCAGCCAGCCACCCAAGGCAAAGTCATCAAAGCTCTTCCCCATGGTGAAAAATACAATGGACACGGAGTGATGAGGCTTTAAGAGTGACAGAAACTAAGGAGGGAATT
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Task1_train_10252
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This alteration in SLC26A8 (solute carrier family 26 member 8) on Chromosome 6 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Spermatogenic failure 3
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AGGCACAATGCATAATGAAAGAAGCCAGCCTTTGAAATTTACATACTGTATGATTCCATTTATATGATGTGCTCAAAAAGACAGAATTATGGTGCTGGAGAACAGATCAATGGTTGCTAGGGGTTATAGATTGGGGGGTATGTGGCTTAAAAAGCATGGCATGAGAGAGTTCTGGAGGTGATGGAACTACTCTGCATCAATTGTGGTGGTGGTTACACAAATCTATATATGTATTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGATCTCAATCAATCTGCCTGCCCAGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCAGTCCCAGCCAAGTGGGTTAAAATCAATCTGAGTATACACCAAAAGGGGAAAAAAAGCGCCAATTTTACTATTTGATAATTTAGAAACAAATAAGTAAATAAAGATTTAAAAAGTTATCTGTTTTCCCCAATTAACAGTGCTGTGCTAGAGTTGGATTTCAGCCACAGCTTGTTCATGTTCTTGACCTCTTTTGTGCTATCCACAACCTGCCCGATCACAAGCTTCAACCCTGCCTGTTGAGCCTCAGAAAAATAGAGAAATGGAGGTATTTAAAGACTATCTGGGGAACTATAAACTACTGTGAGTAAAGGATTTATAAAACCCATTCTATTTTTTGAGGATGAATTTGATCTGGGGTTAACTTTCTAGCTCTGTTTCCCTGGAAACCTTATAATGGTAGAACGTCAGCTGTGTTACCGGGCAGAATTGCTTATGGTAAAAATGAACCCAAATAGTATATTCCATCTGGACCAAGAGGACTGTGAATGAAAGATAAATATCCAGTTGGAAGCCCTACCTTTGGGATTCTCTGAGCATAGTGACTCTTACAACTGGACTTGCCCATTGTGGGACTCTGGAAGCAATATTTATGGCACTGTTACAAAGTTGTTGATTCCTATTTGGGAAATGAGTTTTTAAAGCCCAGATAAGCTCCCACACCTATCTGTGTGATCTTGTTGTCTTACATCTGAACTGCTACTTGGAAGACCAAAGAGTGAGCACTGGATTGCTTGTCACTTGCTGGAGAGATGCTGGCATGCTATGTTTCCTATCCTTCACCTTTTTTTTCTTTTCTGAGACAGGGTCTTGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCACTGCTCACTACAGTCTCGACCTCCTGGGCTCAGGTGATCCTCCCACCTTGGCCTCCAGAGTAACTAAGACTACAGGCACACGTTACCAGGCCCCGCTAATTTTTGTATTTTTTTGTAGAGACAGAGTTTCACTGTGTTAGCCAGGCTGGTCTGGAACTCCTGAGCTCAAGCAATCTGTCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTATGCCCACCTATCCTTCCCCTTTCTAGGTAAAACCAATGCCAAGTGAGATGTATTATAGCCATAAGCATGAAATAACTAGTGAAGGGAAAAAATAACAAAGAGTGGGTGTTACAAATACTCTGGAAAGCATTCAGGGGTCTAAAGTAAACCAAGTCTTTTGGAACCACCCTGGAGAGGTTAGAAATCTGGCAGATAAGGGAACAAATGGTAATGCTGTGAATAAAATTCAATATTTTTTTTCTATTCATGTAGCACAAGTAATTGTTTACCCTGGGCACGTGGACAAGGTCTGATACATTGTCTTTGGATGAACAGGCTTCATATCTTCCTTACCTTGGGGAACTTGCACAAGGCCAACACTTATACCAGCAAGTAAGTCTCCCAGAAGCCAATCCTTTAATCGATACATACACATCCATTCTAGGAAGGGAAAGATTGTAAGCACGCATCGTAGGAACCTGTGCCATGAGCAGCTGTGAGAGAGAGGAGCAGAGACTTGGTTAGTTTCTCCAAAGAAAATGCCCGCATAGCCAAGAAAAGGCATTTGGCCCACATAGCCAAGAAAAAGTAGAGTCTTGTCAGCACTAATGAGAGTTTGACATATTGGACCAGATAATTCTTTGTTGTTGGGCTGTCCTGTGCATTGCAGGATGTTTAGCAGCATCCCTCGTCTCTACACATTCCCACATTTGATATCAGTAGAACTCCCCGCTTCAGCTGTGACAGCTAACAATAACAATGTCTCCAGACATCGCCACATGTTCCCTGGGGGACTAAATCACCTTAGCTTCAGAACCAAGTGCTATGTATATGTCAAGAACTAAGCCATATACGTCCAGCATGTAATCAGTTCTGTGTTTTCACAGGATATTTGGGAAGAATTAAACCTACCAATTTTCCAGTAGAAAAATGGACTGCTGTTGTTTTCTTTTGACAAGGACAGTGTTTTGAGGTGTGACATTGATAGGTGGAAGGGCAGTTAACACATTCATGTTATTCCCAATTAGGAGAGTCCCCAAGTGCGAGGCAGGTGCATAAAGTGTGTTCTTTCTAATTATGACCCTCTGTGGAGGAGAGGAGAGCATGGAACTAAAATTTTTACCAAACATTTACTCTGTCTGGCCTTGACCTGTGACATGTAGAAATTAGTAGAAAATAGAGAATATGAAGTCCTGTGCTTAAGGACTTAGTTATGTAAGGAAACAACTTTATAAAATAAGACTTTATTATCCTTTAGCCCAGTAGATCTCAACTAGGTGCAGTTTTGTTCCCCTGTGTACATGTGGCAATGTCCAGAGACTTTTTTTTTTTTTTTTAGATGGAGTCTTGCTCTTTCGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTCTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCAGGTGATCTGCTCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCATAAGCCACCGTGCCTGGCCCGGAGACATTTTTGATTCTTGCAATTGGCAAGTGGGTAGAGGCTAAACATCACAGAATACACAGGCCAATTCTCCACAAGAAAGAATTTTCTGGTCCAAAATGTCAATGATGCTGAGATTGAGAAAACCTGCTTTAACTTTTAGATCATCTAAAACAACAGAATCATCATTAATCAACCAAGAAAACCAATTTGGTTTTAAATTGTTTTTCATTATTTAGATTTTAGCAGGGGTTGAAAGTAAAAAGTATGAAGATTTTTCATGTGTAAACTGAGCTAGATAATTGGGATTTGACTACAACAACAAATATAACTTTAACGTAGTCAGGGCTGAAGTGCATGCTCAGACAAAAAGTAATTTTACTTATGTTTTACTGTTACAACTATGGCATTACTATTGCTAAGGTAATTAATGCCAAATAAATATGACTTTACCAAGGTCACAGGAATAAGTGTGAGTAGAGATGGGGCTAGAAACAAGGTCCTTGATTTCTAGCTCAGTGTTCTAGCCACTCTCCTGCCTCCAAATTTCCTATTGGCAGCTGTGAAATGCTGCTCGGCAGCCATGAGTAAGACCATTGGTTTGGAAGGAACATCACATTGCTGTTCTTAGGAGAGTCCCTGGGTGTGTGGCAGGTGTACAAAATATGCTCTTTCTAATTATGAGCCTCTGTGGAGAAGAGTAGAGCATGGCACTGGAACAGTTTGTTCCTTCACCTGGTTCAGTCTGCCTTCCTCTCTGTGTGTCACTTAGGGAAAGACCAGCCAGCCACCCAAGGCAAAGTCATCAAAGCTCTTCCCCATGGTGAAAAATACAATGGACACGGAGTGATGAGGCTTTAAGAGTGACAGAAACTAAGGAGGGAATTAGAGGAATGGAAGTTGAAGCTGACGGGGGAATAATATTAGCATTTAGA
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AGGCACAATGCATAATGAAAGAAGCCAGCCTTTGAAATTTACATACTGTATGATTCCATTTATATGATGTGCTCAAAAAGACAGAATTATGGTGCTGGAGAACAGATCAATGGTTGCTAGGGGTTATAGATTGGGGGGTATGTGGCTTAAAAAGCATGGCATGAGAGAGTTCTGGAGGTGATGGAACTACTCTGCATCAATTGTGGTGGTGGTTACACAAATCTATATATGTATTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGATCTCAATCAATCTGCCTGCCCAGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCAGTCCCAGCCAAGTGGGTTAAAATCAATCTGAGTATACACCAAAAGGGGAAAAAAAGCGCCAATTTTACTATTTGATAATTTAGAAACAAATAAGTAAATAAAGATTTAAAAAGTTATCTGTTTTCCCCAATTAACAGTGCTGTGCTAGAGTTGGATTTCAGCCACAGCTTGTTCATGTTCTTGACCTCTTTTGTGCTATCCACAACCTGCCCGATCACAAGCTTCAACCCTGCCTGTTGAGCCTCAGAAAAATAGAGAAATGGAGGTATTTAAAGACTATCTGGGGAACTATAAACTACTGTGAGTAAAGGATTTATAAAACCCATTCTATTTTTTGAGGATGAATTTGATCTGGGGTTAACTTTCTAGCTCTGTTTCCCTGGAAACCTTATAATGGTAGAACGTCAGCTGTGTTACCGGGCAGAATTGCTTATGGTAAAAATGAACCCAAATAGTATATTCCATCTGGACCAAGAGGACTGTGAATGAAAGATAAATATCCAGTTGGAAGCCCTACCTTTGGGATTCTCTGAGCATAGTGACTCTTACAACTGGACTTGCCCATTGTGGGACTCTGGAAGCAATATTTATGGCACTGTTACAAAGTTGTTGATTCCTATTTGGGAAATGAGTTTTTAAAGCCCAGATAAGCTCCCACACCTATCTGTGTGATCTTGTTGTCTTACATCTGAACTGCTACTTGGAAGACCAAAGAGTGAGCACTGGATTGCTTGTCACTTGCTGGAGAGATGCTGGCATGCTATGTTTCCTATCCTTCACCTTTTTTTTCTTTTCTGAGACAGGGTCTTGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCACTGCTCACTACAGTCTCGACCTCCTGGGCTCAGGTGATCCTCCCACCTTGGCCTCCAGAGTAACTAAGACTACAGGCACACGTTACCAGGCCCCGCTAATTTTTGTATTTTTTTGTAGAGACAGAGTTTCACTGTGTTAGCCAGGCTGGTCTGGAACTCCTGAGCTCAAGCAATCTGTCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTATGCCCACCTATCCTTCCCCTTTCTAGGTAAAACCAATGCCAAGTGAGATGTATTATAGCCATAAGCATGAAATAACTAGTGAAGGGAAAAAATAACAAAGAGTGGGTGTTACAAATACTCTGGAAAGCATTCAGGGGTCTAAAGTAAACCAAGTCTTTTGGAACCACCCTGGAGAGGTTAGAAATCTGGCAGATAAGGGAACAAATGGTAATGCTGTGAATAAAATTCAATATTTTTTTTCTATTCATGTAGCACAAGTAATTGTTTACCCTGGGCACGTGGACAAGGTCTGATACATTGTCTTTGGATGAACAGGCTTCATATCTTCCTTACCTTGGGGAACTTGCACAAGGCCAACACTTATACCAGCAAGTAAGTCTCCCAGAAGCCAATCCTTTAATCGATACATACACATCCATTCTAGGAAGGGAAAGATTGTAAGCACGCATAGTAGGAACCTGTGCCATGAGCAGCTGTGAGAGAGAGGAGCAGAGACTTGGTTAGTTTCTCCAAAGAAAATGCCCGCATAGCCAAGAAAAGGCATTTGGCCCACATAGCCAAGAAAAAGTAGAGTCTTGTCAGCACTAATGAGAGTTTGACATATTGGACCAGATAATTCTTTGTTGTTGGGCTGTCCTGTGCATTGCAGGATGTTTAGCAGCATCCCTCGTCTCTACACATTCCCACATTTGATATCAGTAGAACTCCCCGCTTCAGCTGTGACAGCTAACAATAACAATGTCTCCAGACATCGCCACATGTTCCCTGGGGGACTAAATCACCTTAGCTTCAGAACCAAGTGCTATGTATATGTCAAGAACTAAGCCATATACGTCCAGCATGTAATCAGTTCTGTGTTTTCACAGGATATTTGGGAAGAATTAAACCTACCAATTTTCCAGTAGAAAAATGGACTGCTGTTGTTTTCTTTTGACAAGGACAGTGTTTTGAGGTGTGACATTGATAGGTGGAAGGGCAGTTAACACATTCATGTTATTCCCAATTAGGAGAGTCCCCAAGTGCGAGGCAGGTGCATAAAGTGTGTTCTTTCTAATTATGACCCTCTGTGGAGGAGAGGAGAGCATGGAACTAAAATTTTTACCAAACATTTACTCTGTCTGGCCTTGACCTGTGACATGTAGAAATTAGTAGAAAATAGAGAATATGAAGTCCTGTGCTTAAGGACTTAGTTATGTAAGGAAACAACTTTATAAAATAAGACTTTATTATCCTTTAGCCCAGTAGATCTCAACTAGGTGCAGTTTTGTTCCCCTGTGTACATGTGGCAATGTCCAGAGACTTTTTTTTTTTTTTTTAGATGGAGTCTTGCTCTTTCGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTCTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCAGGTGATCTGCTCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCATAAGCCACCGTGCCTGGCCCGGAGACATTTTTGATTCTTGCAATTGGCAAGTGGGTAGAGGCTAAACATCACAGAATACACAGGCCAATTCTCCACAAGAAAGAATTTTCTGGTCCAAAATGTCAATGATGCTGAGATTGAGAAAACCTGCTTTAACTTTTAGATCATCTAAAACAACAGAATCATCATTAATCAACCAAGAAAACCAATTTGGTTTTAAATTGTTTTTCATTATTTAGATTTTAGCAGGGGTTGAAAGTAAAAAGTATGAAGATTTTTCATGTGTAAACTGAGCTAGATAATTGGGATTTGACTACAACAACAAATATAACTTTAACGTAGTCAGGGCTGAAGTGCATGCTCAGACAAAAAGTAATTTTACTTATGTTTTACTGTTACAACTATGGCATTACTATTGCTAAGGTAATTAATGCCAAATAAATATGACTTTACCAAGGTCACAGGAATAAGTGTGAGTAGAGATGGGGCTAGAAACAAGGTCCTTGATTTCTAGCTCAGTGTTCTAGCCACTCTCCTGCCTCCAAATTTCCTATTGGCAGCTGTGAAATGCTGCTCGGCAGCCATGAGTAAGACCATTGGTTTGGAAGGAACATCACATTGCTGTTCTTAGGAGAGTCCCTGGGTGTGTGGCAGGTGTACAAAATATGCTCTTTCTAATTATGAGCCTCTGTGGAGAAGAGTAGAGCATGGCACTGGAACAGTTTGTTCCTTCACCTGGTTCAGTCTGCCTTCCTCTCTGTGTGTCACTTAGGGAAAGACCAGCCAGCCACCCAAGGCAAAGTCATCAAAGCTCTTCCCCATGGTGAAAAATACAATGGACACGGAGTGATGAGGCTTTAAGAGTGACAGAAACTAAGGAGGGAATTAGAGGAATGGAAGTTGAAGCTGACGGGGGAATAATATTAGCATTTAGA
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Task1_train_10253
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Gene PNPLA1 (patatin like domain 1, omega-hydroxyceramide transacylase) on Chromosome 6 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Congenital ichthyosiform erythroderma
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CTTCTCTGCAAGGGGCTCTTGCTGCTCCTCGACCAGTGCCTGCCTGCTCCTCCCAGCTGCCTCCAGTCCCGCAGCCCACACCTCCGCCGCACAGCTCCTCAGATGTTCCAGCCCACACTGCTCAGCCCCGCCTCCTAACTTTTCTGGCAGGAATCTCAGCCCTGCACAGTTTAGTACTTAATTATAGATTGCCTTGTACAGTTTTCTGCTTATTTCACATTTGCCTGTCTTGTTCCCAAGAAGCCTGCAAATATCTGATTTGGGGATGGAGCTTCTGTGTGCTCCTGTCCCCCAGGGCCCCGACACAGCACAGGGCTTGGCACACAAGCCCTCAGTGGAGCTGACCTCACCTCCCAGGAAGGGGGCAGGGTCTCTGCTGTCCAAAAGCTGACTGGACTCCACCCTGACACACCCGCCCCCACCCCAGCAGTATGCCTCAGATATCTGCACACACATGCACACATGCATACACACGCATGTACGCACACACACTTTATCTAATCTAAAGCTCTCTTTTCAACCTGAGGCAATGATATGCCTGGAATTACCTACCCAAGACAGAAAACTCCCTCCTAACTGAAGCCTGGCCTTGCCCTCACTGTGGAATTCCCATGCAGATAAGTGAGTCCACCAGAATGGTGCAAGCTCCCCAGAAGCGGGGAAGCCACTGATGTCACATCCTGGATTGGCACTTGGTGGAGGCCTTGGTGTCTTGATTCTGATTCTGGTCCTGTTGCTGTGTGGTCTTTGAGGGGAGCGGGAGACGCCATCTTGCCTTCTTTGTTATATCTCCATGAGGGGACATTTTGTGGGTGTGAGAACCACTCCTCCCCATCAGGACCACATGATACAGCCCCTCAGGGGGCAGAACCGCAGCCCCTGGAGCTAACCCTGGTCCTCTCACACCACCTCCCTTACCAAAACGTCTCTCTGCCCTGACCCCGACGTCCCCACAGGTGACCTCCCCAGCTGCTCCTCCTTGGGGTTAAACATTGCTATCTCAAACTTCTCATTTCTGAGCGGGAAGAAGAACACGCAACACGAAGCCTCACACACTTAGAATGATCTAGATTTCAGGTTGATTTCTTCCTGCACACTTAGAAGATAGCATGAGGGCTTGGGGCTTGTCGAGAGGGCACTGACCAAGGTCACAGGGTCAGTGAAGGGCCCAGGAGAAGAAACAGAGAGAGGTGCAGAGGCGGTGGTGGGTGGGGCCGCCAAAGTCACACTTCTCTTAAAATTTTACCCAGGGCCAATGCTAACATGTAAATAAACAAGTGAATAAACAAAGGGGTGTTTATGTAAGAAAAACAAATAAAAATGCTTGTGTAACACATCACACATACCACATAGCCTGAAGGAGCCCAGGAGGGGCATCTCTTTTGGGGGACCCGTCCAAAAGAGATGGGGTAGGCACCGTCCTCCTGGAGGGAGGCGGGCTTGGAAGCCCTTCACGGCCGCAGCAGCATGTTGGGGAGGGAGGTGTACACCGATAACCATCACGGAGGTTTTGCAACTGAATGTTGCAGCTGAGGGCTGGGCAGAGCCCGCCTCCTTGGGCATGGCCCTGTGCTGGGGAGCAGTGAATGCGCCCTGGTATACCATGGATGGGCAGAGGGCTGAGGATCCCGTGCCCGAGATGAATCTAGCCAAGAAATGAAGCCAGTGGGGGGCTCACAGGACCAAGACCCTGCTCACACACCGGGGGAGCCTTCTGCATCTCATTCTGGGGCCCCTTTCCAACCTTTGGAGTTGCCTCCTGGCGGAGCTTAACAGGCTGAGGCAGCTTCCTGAGCAGCCTGTGGTTGCTCCAGCCGGGTAGAGACAGCCACATTCCAAGCTCCGGGGTGGCAGGGAAGCTGGGTAGGGAGTTCCTACAGGGAGCGGCAGCCCAGGCTCGGGCAGGCAAGTGCTGAAGGGTGGCTCCGCCTTCCGCAGAAAGTCAGAGGCCGAGGAGATGGAAGAACAGGTGTTCAAGGGGGACCCGGACACCCCTCACTCCATCTCCTTCTCGGGCAGTGGATTCCTCTCCTTCTACCAGGCGGGGGCTGTGGACGCCCTGCGGGACCTGGCCCCCCGGATGCTGGAAACAGCCCACCGCTTTGCGGGGACATCGGCAGGTGCTGTGATCGCCGCCCTGGCCATCTGCGGGATTGAAATGGGTGAGGCCTGTGTTCTGGGTCCCCTGGGAAGTCTCTTGGGGGATTCCACAGAGACAGAAGGAGCGTGAGGGAGGCTGGGGATGCTTTGGGGGACAAAGCCAGGCCTGGGTGGCAGGAAGGGAAGGGAAGAGCTGGTTGGAGTAGGATAGCGGCAGCTGTGACGTTTGAAGGTTGGGGTCTGCCAGGCCCCAGACTCTAACATGCAGGGTGAGCCTGGACCCCTGTCCCTCTCCCTCAGTGCCCTTACCTGTGAGATGCTCTGTCTCCCAGTGCCTGGGAGAGTAAAGGACAGTATCTCCCTCGAACATCGAACATGGTGCTGTCAGAAGCTACACCACGGCACAGTCATACATTGGGGTTCAGTGTTGCTCCTGCCTGGCCTCTTTCAAAATGCAAATACCCTTGGGAGAGGCAACTCTTCAAATCTCTATCACCCTGATGGGGACGTATTGTCCACCATTTCCAGGTGGCTGGAAAGATGAACGCCCTGAGGCTGGAGGGGTAGACAGGAGGGAGCCCAGAGTGGGAGAAGAATAGGAAGGGGTGGGGAGAGAATACAGAAGCTCTCACTTCACCTTCTGTCCTGCTGGTCCAGGAGCCTCAGCGAGAAGAACTGCTACACTGCTAACCCAGAGAGAGAAACACTGTCCCGGACAGCAGATGCATCTAGCAGCCCCAAGGAACAAGCCCAACAGCCTAGTGAGCTACCTTGGAGGGGCATTTATTCATTTACAGAGCTCCTATTCTAGACAGAGCTCTGTTCCAGGCACTGAGGACAAGGTCCCCGCCCTTGTGGAGCAGAAATTCTAGAGAAAAGAAACAGATAATAAACATTCAAACAAGGCACCTTCTAGTGTGAGGTCGGGAAGTGATATGATCTATGAATAAAATTAAAGCAGGAAAGGGACTGAGAATGAAATGGAGACTATTTCAGGAAGGTGGTCAGGGAAGCCTTTCTGAGGAGGTGACATTCAAGCCTAGAGCTGGGTATAGTGATAGAACAAGCTACTGGGAGCTCCTGAAAAGGAGAATTCCTGGTGGAGGAGCAGCCACGAAGCCTGCGGTGTGGAAAAGGTGGTGGGAGGTCAACAGGGGCCAGGTCATGTGGCCTTAGCCACAAGCTCTCATCTCACCTAAGGGAGGGGGAGCACAGACGGCTGTGACAGCAAGTGGGGAGGGGGCAGAGGGCGTGAGCTCCTCAGGTGGGATCCCAGCTCTGCCATTTCATGATGCATGCCTGAAGTAAGTTATTGAACGTTCTGCGCCTCTGTTTCTCCGTCCACAAATGGGAGCTCCTAATAGCGCCTAGTTCCCGGCATTGTTACAGCAGCGGTCTCCAGTTGACACCAGCGACTGGTTTTGTGGAAGACAATTTTTCCACACACCAGGGTTGGTGGGGGATGGTTTCAGAATGATTCAAGCGCATTACATTTGTTGTGCACTTTACTTCTATTATCATTATGTTTTAATATATAATGAAATAATTATACAACTCACCATAAGGTAGAATCAGAGCCCTGAGCTTGTTTTCCTGCAAGTAGGCAGTCCCATCTGAGGGTGATGGGAGACAGTGACAGATCATTAGGCATTAGATTCTCATAAGGAGTGCACAACCTAGATCCCTCCCATGCACAGTTCACAATAAGGTTCACGCTCCTATAAGAATCTAGTGCTGCCACTGATCTGACAGGACGCGGAGCTCAGGCGGTAATGTGAGTGATGGGGAGCCGCTGTAAATACAGAAGAAGCTTCACCTGCTGCTTACCTCCTGCTGTGCGGCCTGGTTCCTAACAGGCCACAGACCCGGGGCCATGGCCTGGGGGTTGGGAACCCCTGGTTATAGGATTGGCTGAGCTAATATGAATACCTGCTTAGAACAATACCTGACATATGGCAAGTGTTGAGAATGTGGCAACCATCTGATTAGGCTTCTT
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CTTCTCTGCAAGGGGCTCTTGCTGCTCCTCGACCAGTGCCTGCCTGCTCCTCCCAGCTGCCTCCAGTCCCGCAGCCCACACCTCCGCCGCACAGCTCCTCAGATGTTCCAGCCCACACTGCTCAGCCCCGCCTCCTAACTTTTCTGGCAGGAATCTCAGCCCTGCACAGTTTAGTACTTAATTATAGATTGCCTTGTACAGTTTTCTGCTTATTTCACATTTGCCTGTCTTGTTCCCAAGAAGCCTGCAAATATCTGATTTGGGGATGGAGCTTCTGTGTGCTCCTGTCCCCCAGGGCCCCGACACAGCACAGGGCTTGGCACACAAGCCCTCAGTGGAGCTGACCTCACCTCCCAGGAAGGGGGCAGGGTCTCTGCTGTCCAAAAGCTGACTGGACTCCACCCTGACACACCCGCCCCCACCCCAGCAGTATGCCTCAGATATCTGCACACACATGCACACATGCATACACACGCATGTACGCACACACACTTTATCTAATCTAAAGCTCTCTTTTCAACCTGAGGCAATGATATGCCTGGAATTACCTACCCAAGACAGAAAACTCCCTCCTAACTGAAGCCTGGCCTTGCCCTCACTGTGGAATTCCCATGCAGATAAGTGAGTCCACCAGAATGGTGCAAGCTCCCCAGAAGCGGGGAAGCCACTGATGTCACATCCTGGATTGGCACTTGGTGGAGGCCTTGGTGTCTTGATTCTGATTCTGGTCCTGTTGCTGTGTGGTCTTTGAGGGGAGCGGGAGACGCCATCTTGCCTTCTTTGTTATATCTCCATGAGGGGACATTTTGTGGGTGTGAGAACCACTCCTCCCCATCAGGACCACATGATACAGCCCCTCAGGGGGCAGAACCGCAGCCCCTGGAGCTAACCCTGGTCCTCTCACACCACCTCCCTTACCAAAACGTCTCTCTGCCCTGACCCCGACGTCCCCACAGGTGACCTCCCCAGCTGCTCCTCCTTGGGGTTAAACATTGCTATCTCAAACTTCTCATTTCTGAGCGGGAAGAAGAACACGCAACACGAAGCCTCACACACTTAGAATGATCTAGATTTCAGGTTGATTTCTTCCTGCACACTTAGAAGATAGCATGAGGGCTTGGGGCTTGTCGAGAGGGCACTGACCAAGGTCACAGGGTCAGTGAAGGGCCCAGGAGAAGAAACAGAGAGAGGTGCAGAGGCGGTGGTGGGTGGGGCCGCCAAAGTCACACTTCTCTTAAAATTTTACCCAGGGCCAATGCTAACATGTAAATAAACAAGTGAATAAACAAAGGGGTGTTTATGTAAGAAAAACAAATAAAAATGCTTGTGTAACACATCACACATACCACATAGCCTGAAGGAGCCCAGGAGGGGCATCTCTTTTGGGGGACCCGTCCAAAAGAGATGGGGTAGGCACCGTCCTCCTGGAGGGAGGCGGGCTTGGAAGCCCTTCACGGCCGCAGCAGCATGTTGGGGAGGGAGGTGTACACCGATAACCATCACGGAGGTTTTGCAACTGAATGTTGCAGCTGAGGGCTGGGCAGAGCCCGCCTCCTTGGGCATGGCCCTGTGCTGGGGAGCAGTGAATGCGCCCTGGTATACCATGGATGGGCAGAGGGCTGAGGATCCCGTGCCCGAGATGAATCTAGCCAAGAAATGAAGCCAGTGGGGGGCTCACAGGACCAAGACCCTGCTCACACACCGGGGGAGCCTTCTGCATCTCATTCTGGGGCCCCTTTCCAACCTTTGGAGTTGCCTCCTGGCGGAGCTTAACAGGCTGAGGCAGCTTCCTGAGCAGCCTGTGGTTGCTCCAGCCGGGTAGAGACAGCCACATTCCAAGCTCCGGGGTGGCAGGGAAGCTGGGTAGGGAGTTCCTACAGGGAGCGGCAGCCCAGGCTCGGGCAGGCAAGTGCTGAAGGGTGGCTCCGCCTTCCGCAGAAAGTCAGAGGCCGAGGAGATGGAAGAACAGGTGTTCAAGGGGGACCCGGACACCCCTCACTCCATCTCCTTCTCGGGCAGTGGATTCCTCTCCTTCTACCAGGCGGGGGATGTGGACGCCCTGCGGGACCTGGCCCCCCGGATGCTGGAAACAGCCCACCGCTTTGCGGGGACATCGGCAGGTGCTGTGATCGCCGCCCTGGCCATCTGCGGGATTGAAATGGGTGAGGCCTGTGTTCTGGGTCCCCTGGGAAGTCTCTTGGGGGATTCCACAGAGACAGAAGGAGCGTGAGGGAGGCTGGGGATGCTTTGGGGGACAAAGCCAGGCCTGGGTGGCAGGAAGGGAAGGGAAGAGCTGGTTGGAGTAGGATAGCGGCAGCTGTGACGTTTGAAGGTTGGGGTCTGCCAGGCCCCAGACTCTAACATGCAGGGTGAGCCTGGACCCCTGTCCCTCTCCCTCAGTGCCCTTACCTGTGAGATGCTCTGTCTCCCAGTGCCTGGGAGAGTAAAGGACAGTATCTCCCTCGAACATCGAACATGGTGCTGTCAGAAGCTACACCACGGCACAGTCATACATTGGGGTTCAGTGTTGCTCCTGCCTGGCCTCTTTCAAAATGCAAATACCCTTGGGAGAGGCAACTCTTCAAATCTCTATCACCCTGATGGGGACGTATTGTCCACCATTTCCAGGTGGCTGGAAAGATGAACGCCCTGAGGCTGGAGGGGTAGACAGGAGGGAGCCCAGAGTGGGAGAAGAATAGGAAGGGGTGGGGAGAGAATACAGAAGCTCTCACTTCACCTTCTGTCCTGCTGGTCCAGGAGCCTCAGCGAGAAGAACTGCTACACTGCTAACCCAGAGAGAGAAACACTGTCCCGGACAGCAGATGCATCTAGCAGCCCCAAGGAACAAGCCCAACAGCCTAGTGAGCTACCTTGGAGGGGCATTTATTCATTTACAGAGCTCCTATTCTAGACAGAGCTCTGTTCCAGGCACTGAGGACAAGGTCCCCGCCCTTGTGGAGCAGAAATTCTAGAGAAAAGAAACAGATAATAAACATTCAAACAAGGCACCTTCTAGTGTGAGGTCGGGAAGTGATATGATCTATGAATAAAATTAAAGCAGGAAAGGGACTGAGAATGAAATGGAGACTATTTCAGGAAGGTGGTCAGGGAAGCCTTTCTGAGGAGGTGACATTCAAGCCTAGAGCTGGGTATAGTGATAGAACAAGCTACTGGGAGCTCCTGAAAAGGAGAATTCCTGGTGGAGGAGCAGCCACGAAGCCTGCGGTGTGGAAAAGGTGGTGGGAGGTCAACAGGGGCCAGGTCATGTGGCCTTAGCCACAAGCTCTCATCTCACCTAAGGGAGGGGGAGCACAGACGGCTGTGACAGCAAGTGGGGAGGGGGCAGAGGGCGTGAGCTCCTCAGGTGGGATCCCAGCTCTGCCATTTCATGATGCATGCCTGAAGTAAGTTATTGAACGTTCTGCGCCTCTGTTTCTCCGTCCACAAATGGGAGCTCCTAATAGCGCCTAGTTCCCGGCATTGTTACAGCAGCGGTCTCCAGTTGACACCAGCGACTGGTTTTGTGGAAGACAATTTTTCCACACACCAGGGTTGGTGGGGGATGGTTTCAGAATGATTCAAGCGCATTACATTTGTTGTGCACTTTACTTCTATTATCATTATGTTTTAATATATAATGAAATAATTATACAACTCACCATAAGGTAGAATCAGAGCCCTGAGCTTGTTTTCCTGCAAGTAGGCAGTCCCATCTGAGGGTGATGGGAGACAGTGACAGATCATTAGGCATTAGATTCTCATAAGGAGTGCACAACCTAGATCCCTCCCATGCACAGTTCACAATAAGGTTCACGCTCCTATAAGAATCTAGTGCTGCCACTGATCTGACAGGACGCGGAGCTCAGGCGGTAATGTGAGTGATGGGGAGCCGCTGTAAATACAGAAGAAGCTTCACCTGCTGCTTACCTCCTGCTGTGCGGCCTGGTTCCTAACAGGCCACAGACCCGGGGCCATGGCCTGGGGGTTGGGAACCCCTGGTTATAGGATTGGCTGAGCTAATATGAATACCTGCTTAGAACAATACCTGACATATGGCAAGTGTTGAGAATGTGGCAACCATCTGATTAGGCTTCTT
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Task1_train_10254
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A sequence alteration has been identified in PNPLA1 (patatin like domain 1, omega-hydroxyceramide transacylase) on Chromosome 6. Is it disease-inducing or harmless?
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Pathogenic; Autosomal recessive congenital ichthyosis 10
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CAAGGGGCTCTTGCTGCTCCTCGACCAGTGCCTGCCTGCTCCTCCCAGCTGCCTCCAGTCCCGCAGCCCACACCTCCGCCGCACAGCTCCTCAGATGTTCCAGCCCACACTGCTCAGCCCCGCCTCCTAACTTTTCTGGCAGGAATCTCAGCCCTGCACAGTTTAGTACTTAATTATAGATTGCCTTGTACAGTTTTCTGCTTATTTCACATTTGCCTGTCTTGTTCCCAAGAAGCCTGCAAATATCTGATTTGGGGATGGAGCTTCTGTGTGCTCCTGTCCCCCAGGGCCCCGACACAGCACAGGGCTTGGCACACAAGCCCTCAGTGGAGCTGACCTCACCTCCCAGGAAGGGGGCAGGGTCTCTGCTGTCCAAAAGCTGACTGGACTCCACCCTGACACACCCGCCCCCACCCCAGCAGTATGCCTCAGATATCTGCACACACATGCACACATGCATACACACGCATGTACGCACACACACTTTATCTAATCTAAAGCTCTCTTTTCAACCTGAGGCAATGATATGCCTGGAATTACCTACCCAAGACAGAAAACTCCCTCCTAACTGAAGCCTGGCCTTGCCCTCACTGTGGAATTCCCATGCAGATAAGTGAGTCCACCAGAATGGTGCAAGCTCCCCAGAAGCGGGGAAGCCACTGATGTCACATCCTGGATTGGCACTTGGTGGAGGCCTTGGTGTCTTGATTCTGATTCTGGTCCTGTTGCTGTGTGGTCTTTGAGGGGAGCGGGAGACGCCATCTTGCCTTCTTTGTTATATCTCCATGAGGGGACATTTTGTGGGTGTGAGAACCACTCCTCCCCATCAGGACCACATGATACAGCCCCTCAGGGGGCAGAACCGCAGCCCCTGGAGCTAACCCTGGTCCTCTCACACCACCTCCCTTACCAAAACGTCTCTCTGCCCTGACCCCGACGTCCCCACAGGTGACCTCCCCAGCTGCTCCTCCTTGGGGTTAAACATTGCTATCTCAAACTTCTCATTTCTGAGCGGGAAGAAGAACACGCAACACGAAGCCTCACACACTTAGAATGATCTAGATTTCAGGTTGATTTCTTCCTGCACACTTAGAAGATAGCATGAGGGCTTGGGGCTTGTCGAGAGGGCACTGACCAAGGTCACAGGGTCAGTGAAGGGCCCAGGAGAAGAAACAGAGAGAGGTGCAGAGGCGGTGGTGGGTGGGGCCGCCAAAGTCACACTTCTCTTAAAATTTTACCCAGGGCCAATGCTAACATGTAAATAAACAAGTGAATAAACAAAGGGGTGTTTATGTAAGAAAAACAAATAAAAATGCTTGTGTAACACATCACACATACCACATAGCCTGAAGGAGCCCAGGAGGGGCATCTCTTTTGGGGGACCCGTCCAAAAGAGATGGGGTAGGCACCGTCCTCCTGGAGGGAGGCGGGCTTGGAAGCCCTTCACGGCCGCAGCAGCATGTTGGGGAGGGAGGTGTACACCGATAACCATCACGGAGGTTTTGCAACTGAATGTTGCAGCTGAGGGCTGGGCAGAGCCCGCCTCCTTGGGCATGGCCCTGTGCTGGGGAGCAGTGAATGCGCCCTGGTATACCATGGATGGGCAGAGGGCTGAGGATCCCGTGCCCGAGATGAATCTAGCCAAGAAATGAAGCCAGTGGGGGGCTCACAGGACCAAGACCCTGCTCACACACCGGGGGAGCCTTCTGCATCTCATTCTGGGGCCCCTTTCCAACCTTTGGAGTTGCCTCCTGGCGGAGCTTAACAGGCTGAGGCAGCTTCCTGAGCAGCCTGTGGTTGCTCCAGCCGGGTAGAGACAGCCACATTCCAAGCTCCGGGGTGGCAGGGAAGCTGGGTAGGGAGTTCCTACAGGGAGCGGCAGCCCAGGCTCGGGCAGGCAAGTGCTGAAGGGTGGCTCCGCCTTCCGCAGAAAGTCAGAGGCCGAGGAGATGGAAGAACAGGTGTTCAAGGGGGACCCGGACACCCCTCACTCCATCTCCTTCTCGGGCAGTGGATTCCTCTCCTTCTACCAGGCGGGGGCTGTGGACGCCCTGCGGGACCTGGCCCCCCGGATGCTGGAAACAGCCCACCGCTTTGCGGGGACATCGGCAGGTGCTGTGATCGCCGCCCTGGCCATCTGCGGGATTGAAATGGGTGAGGCCTGTGTTCTGGGTCCCCTGGGAAGTCTCTTGGGGGATTCCACAGAGACAGAAGGAGCGTGAGGGAGGCTGGGGATGCTTTGGGGGACAAAGCCAGGCCTGGGTGGCAGGAAGGGAAGGGAAGAGCTGGTTGGAGTAGGATAGCGGCAGCTGTGACGTTTGAAGGTTGGGGTCTGCCAGGCCCCAGACTCTAACATGCAGGGTGAGCCTGGACCCCTGTCCCTCTCCCTCAGTGCCCTTACCTGTGAGATGCTCTGTCTCCCAGTGCCTGGGAGAGTAAAGGACAGTATCTCCCTCGAACATCGAACATGGTGCTGTCAGAAGCTACACCACGGCACAGTCATACATTGGGGTTCAGTGTTGCTCCTGCCTGGCCTCTTTCAAAATGCAAATACCCTTGGGAGAGGCAACTCTTCAAATCTCTATCACCCTGATGGGGACGTATTGTCCACCATTTCCAGGTGGCTGGAAAGATGAACGCCCTGAGGCTGGAGGGGTAGACAGGAGGGAGCCCAGAGTGGGAGAAGAATAGGAAGGGGTGGGGAGAGAATACAGAAGCTCTCACTTCACCTTCTGTCCTGCTGGTCCAGGAGCCTCAGCGAGAAGAACTGCTACACTGCTAACCCAGAGAGAGAAACACTGTCCCGGACAGCAGATGCATCTAGCAGCCCCAAGGAACAAGCCCAACAGCCTAGTGAGCTACCTTGGAGGGGCATTTATTCATTTACAGAGCTCCTATTCTAGACAGAGCTCTGTTCCAGGCACTGAGGACAAGGTCCCCGCCCTTGTGGAGCAGAAATTCTAGAGAAAAGAAACAGATAATAAACATTCAAACAAGGCACCTTCTAGTGTGAGGTCGGGAAGTGATATGATCTATGAATAAAATTAAAGCAGGAAAGGGACTGAGAATGAAATGGAGACTATTTCAGGAAGGTGGTCAGGGAAGCCTTTCTGAGGAGGTGACATTCAAGCCTAGAGCTGGGTATAGTGATAGAACAAGCTACTGGGAGCTCCTGAAAAGGAGAATTCCTGGTGGAGGAGCAGCCACGAAGCCTGCGGTGTGGAAAAGGTGGTGGGAGGTCAACAGGGGCCAGGTCATGTGGCCTTAGCCACAAGCTCTCATCTCACCTAAGGGAGGGGGAGCACAGACGGCTGTGACAGCAAGTGGGGAGGGGGCAGAGGGCGTGAGCTCCTCAGGTGGGATCCCAGCTCTGCCATTTCATGATGCATGCCTGAAGTAAGTTATTGAACGTTCTGCGCCTCTGTTTCTCCGTCCACAAATGGGAGCTCCTAATAGCGCCTAGTTCCCGGCATTGTTACAGCAGCGGTCTCCAGTTGACACCAGCGACTGGTTTTGTGGAAGACAATTTTTCCACACACCAGGGTTGGTGGGGGATGGTTTCAGAATGATTCAAGCGCATTACATTTGTTGTGCACTTTACTTCTATTATCATTATGTTTTAATATATAATGAAATAATTATACAACTCACCATAAGGTAGAATCAGAGCCCTGAGCTTGTTTTCCTGCAAGTAGGCAGTCCCATCTGAGGGTGATGGGAGACAGTGACAGATCATTAGGCATTAGATTCTCATAAGGAGTGCACAACCTAGATCCCTCCCATGCACAGTTCACAATAAGGTTCACGCTCCTATAAGAATCTAGTGCTGCCACTGATCTGACAGGACGCGGAGCTCAGGCGGTAATGTGAGTGATGGGGAGCCGCTGTAAATACAGAAGAAGCTTCACCTGCTGCTTACCTCCTGCTGTGCGGCCTGGTTCCTAACAGGCCACAGACCCGGGGCCATGGCCTGGGGGTTGGGAACCCCTGGTTATAGGATTGGCTGAGCTAATATGAATACCTGCTTAGAACAATACCTGACATATGGCAAGTGTTGAGAATGTGGCAACCATCTGATTAGGCTTCTTAAGATCTC
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CAAGGGGCTCTTGCTGCTCCTCGACCAGTGCCTGCCTGCTCCTCCCAGCTGCCTCCAGTCCCGCAGCCCACACCTCCGCCGCACAGCTCCTCAGATGTTCCAGCCCACACTGCTCAGCCCCGCCTCCTAACTTTTCTGGCAGGAATCTCAGCCCTGCACAGTTTAGTACTTAATTATAGATTGCCTTGTACAGTTTTCTGCTTATTTCACATTTGCCTGTCTTGTTCCCAAGAAGCCTGCAAATATCTGATTTGGGGATGGAGCTTCTGTGTGCTCCTGTCCCCCAGGGCCCCGACACAGCACAGGGCTTGGCACACAAGCCCTCAGTGGAGCTGACCTCACCTCCCAGGAAGGGGGCAGGGTCTCTGCTGTCCAAAAGCTGACTGGACTCCACCCTGACACACCCGCCCCCACCCCAGCAGTATGCCTCAGATATCTGCACACACATGCACACATGCATACACACGCATGTACGCACACACACTTTATCTAATCTAAAGCTCTCTTTTCAACCTGAGGCAATGATATGCCTGGAATTACCTACCCAAGACAGAAAACTCCCTCCTAACTGAAGCCTGGCCTTGCCCTCACTGTGGAATTCCCATGCAGATAAGTGAGTCCACCAGAATGGTGCAAGCTCCCCAGAAGCGGGGAAGCCACTGATGTCACATCCTGGATTGGCACTTGGTGGAGGCCTTGGTGTCTTGATTCTGATTCTGGTCCTGTTGCTGTGTGGTCTTTGAGGGGAGCGGGAGACGCCATCTTGCCTTCTTTGTTATATCTCCATGAGGGGACATTTTGTGGGTGTGAGAACCACTCCTCCCCATCAGGACCACATGATACAGCCCCTCAGGGGGCAGAACCGCAGCCCCTGGAGCTAACCCTGGTCCTCTCACACCACCTCCCTTACCAAAACGTCTCTCTGCCCTGACCCCGACGTCCCCACAGGTGACCTCCCCAGCTGCTCCTCCTTGGGGTTAAACATTGCTATCTCAAACTTCTCATTTCTGAGCGGGAAGAAGAACACGCAACACGAAGCCTCACACACTTAGAATGATCTAGATTTCAGGTTGATTTCTTCCTGCACACTTAGAAGATAGCATGAGGGCTTGGGGCTTGTCGAGAGGGCACTGACCAAGGTCACAGGGTCAGTGAAGGGCCCAGGAGAAGAAACAGAGAGAGGTGCAGAGGCGGTGGTGGGTGGGGCCGCCAAAGTCACACTTCTCTTAAAATTTTACCCAGGGCCAATGCTAACATGTAAATAAACAAGTGAATAAACAAAGGGGTGTTTATGTAAGAAAAACAAATAAAAATGCTTGTGTAACACATCACACATACCACATAGCCTGAAGGAGCCCAGGAGGGGCATCTCTTTTGGGGGACCCGTCCAAAAGAGATGGGGTAGGCACCGTCCTCCTGGAGGGAGGCGGGCTTGGAAGCCCTTCACGGCCGCAGCAGCATGTTGGGGAGGGAGGTGTACACCGATAACCATCACGGAGGTTTTGCAACTGAATGTTGCAGCTGAGGGCTGGGCAGAGCCCGCCTCCTTGGGCATGGCCCTGTGCTGGGGAGCAGTGAATGCGCCCTGGTATACCATGGATGGGCAGAGGGCTGAGGATCCCGTGCCCGAGATGAATCTAGCCAAGAAATGAAGCCAGTGGGGGGCTCACAGGACCAAGACCCTGCTCACACACCGGGGGAGCCTTCTGCATCTCATTCTGGGGCCCCTTTCCAACCTTTGGAGTTGCCTCCTGGCGGAGCTTAACAGGCTGAGGCAGCTTCCTGAGCAGCCTGTGGTTGCTCCAGCCGGGTAGAGACAGCCACATTCCAAGCTCCGGGGTGGCAGGGAAGCTGGGTAGGGAGTTCCTACAGGGAGCGGCAGCCCAGGCTCGGGCAGGCAAGTGCTGAAGGGTGGCTCCGCCTTCCGCAGAAAGTCAGAGGCCGAGGAGATGGAAGAACAGGTGTTCAAGGGGGACCCGGACACCCCTCACTCCATCTCCTTCTCGGGCAGTGGATTCCTCTCCTTCTACCAGGCGGGGGCTGTGGACACCCTGCGGGACCTGGCCCCCCGGATGCTGGAAACAGCCCACCGCTTTGCGGGGACATCGGCAGGTGCTGTGATCGCCGCCCTGGCCATCTGCGGGATTGAAATGGGTGAGGCCTGTGTTCTGGGTCCCCTGGGAAGTCTCTTGGGGGATTCCACAGAGACAGAAGGAGCGTGAGGGAGGCTGGGGATGCTTTGGGGGACAAAGCCAGGCCTGGGTGGCAGGAAGGGAAGGGAAGAGCTGGTTGGAGTAGGATAGCGGCAGCTGTGACGTTTGAAGGTTGGGGTCTGCCAGGCCCCAGACTCTAACATGCAGGGTGAGCCTGGACCCCTGTCCCTCTCCCTCAGTGCCCTTACCTGTGAGATGCTCTGTCTCCCAGTGCCTGGGAGAGTAAAGGACAGTATCTCCCTCGAACATCGAACATGGTGCTGTCAGAAGCTACACCACGGCACAGTCATACATTGGGGTTCAGTGTTGCTCCTGCCTGGCCTCTTTCAAAATGCAAATACCCTTGGGAGAGGCAACTCTTCAAATCTCTATCACCCTGATGGGGACGTATTGTCCACCATTTCCAGGTGGCTGGAAAGATGAACGCCCTGAGGCTGGAGGGGTAGACAGGAGGGAGCCCAGAGTGGGAGAAGAATAGGAAGGGGTGGGGAGAGAATACAGAAGCTCTCACTTCACCTTCTGTCCTGCTGGTCCAGGAGCCTCAGCGAGAAGAACTGCTACACTGCTAACCCAGAGAGAGAAACACTGTCCCGGACAGCAGATGCATCTAGCAGCCCCAAGGAACAAGCCCAACAGCCTAGTGAGCTACCTTGGAGGGGCATTTATTCATTTACAGAGCTCCTATTCTAGACAGAGCTCTGTTCCAGGCACTGAGGACAAGGTCCCCGCCCTTGTGGAGCAGAAATTCTAGAGAAAAGAAACAGATAATAAACATTCAAACAAGGCACCTTCTAGTGTGAGGTCGGGAAGTGATATGATCTATGAATAAAATTAAAGCAGGAAAGGGACTGAGAATGAAATGGAGACTATTTCAGGAAGGTGGTCAGGGAAGCCTTTCTGAGGAGGTGACATTCAAGCCTAGAGCTGGGTATAGTGATAGAACAAGCTACTGGGAGCTCCTGAAAAGGAGAATTCCTGGTGGAGGAGCAGCCACGAAGCCTGCGGTGTGGAAAAGGTGGTGGGAGGTCAACAGGGGCCAGGTCATGTGGCCTTAGCCACAAGCTCTCATCTCACCTAAGGGAGGGGGAGCACAGACGGCTGTGACAGCAAGTGGGGAGGGGGCAGAGGGCGTGAGCTCCTCAGGTGGGATCCCAGCTCTGCCATTTCATGATGCATGCCTGAAGTAAGTTATTGAACGTTCTGCGCCTCTGTTTCTCCGTCCACAAATGGGAGCTCCTAATAGCGCCTAGTTCCCGGCATTGTTACAGCAGCGGTCTCCAGTTGACACCAGCGACTGGTTTTGTGGAAGACAATTTTTCCACACACCAGGGTTGGTGGGGGATGGTTTCAGAATGATTCAAGCGCATTACATTTGTTGTGCACTTTACTTCTATTATCATTATGTTTTAATATATAATGAAATAATTATACAACTCACCATAAGGTAGAATCAGAGCCCTGAGCTTGTTTTCCTGCAAGTAGGCAGTCCCATCTGAGGGTGATGGGAGACAGTGACAGATCATTAGGCATTAGATTCTCATAAGGAGTGCACAACCTAGATCCCTCCCATGCACAGTTCACAATAAGGTTCACGCTCCTATAAGAATCTAGTGCTGCCACTGATCTGACAGGACGCGGAGCTCAGGCGGTAATGTGAGTGATGGGGAGCCGCTGTAAATACAGAAGAAGCTTCACCTGCTGCTTACCTCCTGCTGTGCGGCCTGGTTCCTAACAGGCCACAGACCCGGGGCCATGGCCTGGGGGTTGGGAACCCCTGGTTATAGGATTGGCTGAGCTAATATGAATACCTGCTTAGAACAATACCTGACATATGGCAAGTGTTGAGAATGTGGCAACCATCTGATTAGGCTTCTTAAGATCTC
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Task1_train_10255
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This variant affects the gene PNPLA1 (patatin like domain 1, omega-hydroxyceramide transacylase) found on Chromosome 6. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Congenital ichthyosiform erythroderma
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GTCCCGCAGCCCACACCTCCGCCGCACAGCTCCTCAGATGTTCCAGCCCACACTGCTCAGCCCCGCCTCCTAACTTTTCTGGCAGGAATCTCAGCCCTGCACAGTTTAGTACTTAATTATAGATTGCCTTGTACAGTTTTCTGCTTATTTCACATTTGCCTGTCTTGTTCCCAAGAAGCCTGCAAATATCTGATTTGGGGATGGAGCTTCTGTGTGCTCCTGTCCCCCAGGGCCCCGACACAGCACAGGGCTTGGCACACAAGCCCTCAGTGGAGCTGACCTCACCTCCCAGGAAGGGGGCAGGGTCTCTGCTGTCCAAAAGCTGACTGGACTCCACCCTGACACACCCGCCCCCACCCCAGCAGTATGCCTCAGATATCTGCACACACATGCACACATGCATACACACGCATGTACGCACACACACTTTATCTAATCTAAAGCTCTCTTTTCAACCTGAGGCAATGATATGCCTGGAATTACCTACCCAAGACAGAAAACTCCCTCCTAACTGAAGCCTGGCCTTGCCCTCACTGTGGAATTCCCATGCAGATAAGTGAGTCCACCAGAATGGTGCAAGCTCCCCAGAAGCGGGGAAGCCACTGATGTCACATCCTGGATTGGCACTTGGTGGAGGCCTTGGTGTCTTGATTCTGATTCTGGTCCTGTTGCTGTGTGGTCTTTGAGGGGAGCGGGAGACGCCATCTTGCCTTCTTTGTTATATCTCCATGAGGGGACATTTTGTGGGTGTGAGAACCACTCCTCCCCATCAGGACCACATGATACAGCCCCTCAGGGGGCAGAACCGCAGCCCCTGGAGCTAACCCTGGTCCTCTCACACCACCTCCCTTACCAAAACGTCTCTCTGCCCTGACCCCGACGTCCCCACAGGTGACCTCCCCAGCTGCTCCTCCTTGGGGTTAAACATTGCTATCTCAAACTTCTCATTTCTGAGCGGGAAGAAGAACACGCAACACGAAGCCTCACACACTTAGAATGATCTAGATTTCAGGTTGATTTCTTCCTGCACACTTAGAAGATAGCATGAGGGCTTGGGGCTTGTCGAGAGGGCACTGACCAAGGTCACAGGGTCAGTGAAGGGCCCAGGAGAAGAAACAGAGAGAGGTGCAGAGGCGGTGGTGGGTGGGGCCGCCAAAGTCACACTTCTCTTAAAATTTTACCCAGGGCCAATGCTAACATGTAAATAAACAAGTGAATAAACAAAGGGGTGTTTATGTAAGAAAAACAAATAAAAATGCTTGTGTAACACATCACACATACCACATAGCCTGAAGGAGCCCAGGAGGGGCATCTCTTTTGGGGGACCCGTCCAAAAGAGATGGGGTAGGCACCGTCCTCCTGGAGGGAGGCGGGCTTGGAAGCCCTTCACGGCCGCAGCAGCATGTTGGGGAGGGAGGTGTACACCGATAACCATCACGGAGGTTTTGCAACTGAATGTTGCAGCTGAGGGCTGGGCAGAGCCCGCCTCCTTGGGCATGGCCCTGTGCTGGGGAGCAGTGAATGCGCCCTGGTATACCATGGATGGGCAGAGGGCTGAGGATCCCGTGCCCGAGATGAATCTAGCCAAGAAATGAAGCCAGTGGGGGGCTCACAGGACCAAGACCCTGCTCACACACCGGGGGAGCCTTCTGCATCTCATTCTGGGGCCCCTTTCCAACCTTTGGAGTTGCCTCCTGGCGGAGCTTAACAGGCTGAGGCAGCTTCCTGAGCAGCCTGTGGTTGCTCCAGCCGGGTAGAGACAGCCACATTCCAAGCTCCGGGGTGGCAGGGAAGCTGGGTAGGGAGTTCCTACAGGGAGCGGCAGCCCAGGCTCGGGCAGGCAAGTGCTGAAGGGTGGCTCCGCCTTCCGCAGAAAGTCAGAGGCCGAGGAGATGGAAGAACAGGTGTTCAAGGGGGACCCGGACACCCCTCACTCCATCTCCTTCTCGGGCAGTGGATTCCTCTCCTTCTACCAGGCGGGGGCTGTGGACGCCCTGCGGGACCTGGCCCCCCGGATGCTGGAAACAGCCCACCGCTTTGCGGGGACATCGGCAGGTGCTGTGATCGCCGCCCTGGCCATCTGCGGGATTGAAATGGGTGAGGCCTGTGTTCTGGGTCCCCTGGGAAGTCTCTTGGGGGATTCCACAGAGACAGAAGGAGCGTGAGGGAGGCTGGGGATGCTTTGGGGGACAAAGCCAGGCCTGGGTGGCAGGAAGGGAAGGGAAGAGCTGGTTGGAGTAGGATAGCGGCAGCTGTGACGTTTGAAGGTTGGGGTCTGCCAGGCCCCAGACTCTAACATGCAGGGTGAGCCTGGACCCCTGTCCCTCTCCCTCAGTGCCCTTACCTGTGAGATGCTCTGTCTCCCAGTGCCTGGGAGAGTAAAGGACAGTATCTCCCTCGAACATCGAACATGGTGCTGTCAGAAGCTACACCACGGCACAGTCATACATTGGGGTTCAGTGTTGCTCCTGCCTGGCCTCTTTCAAAATGCAAATACCCTTGGGAGAGGCAACTCTTCAAATCTCTATCACCCTGATGGGGACGTATTGTCCACCATTTCCAGGTGGCTGGAAAGATGAACGCCCTGAGGCTGGAGGGGTAGACAGGAGGGAGCCCAGAGTGGGAGAAGAATAGGAAGGGGTGGGGAGAGAATACAGAAGCTCTCACTTCACCTTCTGTCCTGCTGGTCCAGGAGCCTCAGCGAGAAGAACTGCTACACTGCTAACCCAGAGAGAGAAACACTGTCCCGGACAGCAGATGCATCTAGCAGCCCCAAGGAACAAGCCCAACAGCCTAGTGAGCTACCTTGGAGGGGCATTTATTCATTTACAGAGCTCCTATTCTAGACAGAGCTCTGTTCCAGGCACTGAGGACAAGGTCCCCGCCCTTGTGGAGCAGAAATTCTAGAGAAAAGAAACAGATAATAAACATTCAAACAAGGCACCTTCTAGTGTGAGGTCGGGAAGTGATATGATCTATGAATAAAATTAAAGCAGGAAAGGGACTGAGAATGAAATGGAGACTATTTCAGGAAGGTGGTCAGGGAAGCCTTTCTGAGGAGGTGACATTCAAGCCTAGAGCTGGGTATAGTGATAGAACAAGCTACTGGGAGCTCCTGAAAAGGAGAATTCCTGGTGGAGGAGCAGCCACGAAGCCTGCGGTGTGGAAAAGGTGGTGGGAGGTCAACAGGGGCCAGGTCATGTGGCCTTAGCCACAAGCTCTCATCTCACCTAAGGGAGGGGGAGCACAGACGGCTGTGACAGCAAGTGGGGAGGGGGCAGAGGGCGTGAGCTCCTCAGGTGGGATCCCAGCTCTGCCATTTCATGATGCATGCCTGAAGTAAGTTATTGAACGTTCTGCGCCTCTGTTTCTCCGTCCACAAATGGGAGCTCCTAATAGCGCCTAGTTCCCGGCATTGTTACAGCAGCGGTCTCCAGTTGACACCAGCGACTGGTTTTGTGGAAGACAATTTTTCCACACACCAGGGTTGGTGGGGGATGGTTTCAGAATGATTCAAGCGCATTACATTTGTTGTGCACTTTACTTCTATTATCATTATGTTTTAATATATAATGAAATAATTATACAACTCACCATAAGGTAGAATCAGAGCCCTGAGCTTGTTTTCCTGCAAGTAGGCAGTCCCATCTGAGGGTGATGGGAGACAGTGACAGATCATTAGGCATTAGATTCTCATAAGGAGTGCACAACCTAGATCCCTCCCATGCACAGTTCACAATAAGGTTCACGCTCCTATAAGAATCTAGTGCTGCCACTGATCTGACAGGACGCGGAGCTCAGGCGGTAATGTGAGTGATGGGGAGCCGCTGTAAATACAGAAGAAGCTTCACCTGCTGCTTACCTCCTGCTGTGCGGCCTGGTTCCTAACAGGCCACAGACCCGGGGCCATGGCCTGGGGGTTGGGAACCCCTGGTTATAGGATTGGCTGAGCTAATATGAATACCTGCTTAGAACAATACCTGACATATGGCAAGTGTTGAGAATGTGGCAACCATCTGATTAGGCTTCTTAAGATCTCTGAACGATGGGCAGAGTGTGTTTGAGGGAGCAAGGTGGAAACTAGATAAGGGAAGAG
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GTCCCGCAGCCCACACCTCCGCCGCACAGCTCCTCAGATGTTCCAGCCCACACTGCTCAGCCCCGCCTCCTAACTTTTCTGGCAGGAATCTCAGCCCTGCACAGTTTAGTACTTAATTATAGATTGCCTTGTACAGTTTTCTGCTTATTTCACATTTGCCTGTCTTGTTCCCAAGAAGCCTGCAAATATCTGATTTGGGGATGGAGCTTCTGTGTGCTCCTGTCCCCCAGGGCCCCGACACAGCACAGGGCTTGGCACACAAGCCCTCAGTGGAGCTGACCTCACCTCCCAGGAAGGGGGCAGGGTCTCTGCTGTCCAAAAGCTGACTGGACTCCACCCTGACACACCCGCCCCCACCCCAGCAGTATGCCTCAGATATCTGCACACACATGCACACATGCATACACACGCATGTACGCACACACACTTTATCTAATCTAAAGCTCTCTTTTCAACCTGAGGCAATGATATGCCTGGAATTACCTACCCAAGACAGAAAACTCCCTCCTAACTGAAGCCTGGCCTTGCCCTCACTGTGGAATTCCCATGCAGATAAGTGAGTCCACCAGAATGGTGCAAGCTCCCCAGAAGCGGGGAAGCCACTGATGTCACATCCTGGATTGGCACTTGGTGGAGGCCTTGGTGTCTTGATTCTGATTCTGGTCCTGTTGCTGTGTGGTCTTTGAGGGGAGCGGGAGACGCCATCTTGCCTTCTTTGTTATATCTCCATGAGGGGACATTTTGTGGGTGTGAGAACCACTCCTCCCCATCAGGACCACATGATACAGCCCCTCAGGGGGCAGAACCGCAGCCCCTGGAGCTAACCCTGGTCCTCTCACACCACCTCCCTTACCAAAACGTCTCTCTGCCCTGACCCCGACGTCCCCACAGGTGACCTCCCCAGCTGCTCCTCCTTGGGGTTAAACATTGCTATCTCAAACTTCTCATTTCTGAGCGGGAAGAAGAACACGCAACACGAAGCCTCACACACTTAGAATGATCTAGATTTCAGGTTGATTTCTTCCTGCACACTTAGAAGATAGCATGAGGGCTTGGGGCTTGTCGAGAGGGCACTGACCAAGGTCACAGGGTCAGTGAAGGGCCCAGGAGAAGAAACAGAGAGAGGTGCAGAGGCGGTGGTGGGTGGGGCCGCCAAAGTCACACTTCTCTTAAAATTTTACCCAGGGCCAATGCTAACATGTAAATAAACAAGTGAATAAACAAAGGGGTGTTTATGTAAGAAAAACAAATAAAAATGCTTGTGTAACACATCACACATACCACATAGCCTGAAGGAGCCCAGGAGGGGCATCTCTTTTGGGGGACCCGTCCAAAAGAGATGGGGTAGGCACCGTCCTCCTGGAGGGAGGCGGGCTTGGAAGCCCTTCACGGCCGCAGCAGCATGTTGGGGAGGGAGGTGTACACCGATAACCATCACGGAGGTTTTGCAACTGAATGTTGCAGCTGAGGGCTGGGCAGAGCCCGCCTCCTTGGGCATGGCCCTGTGCTGGGGAGCAGTGAATGCGCCCTGGTATACCATGGATGGGCAGAGGGCTGAGGATCCCGTGCCCGAGATGAATCTAGCCAAGAAATGAAGCCAGTGGGGGGCTCACAGGACCAAGACCCTGCTCACACACCGGGGGAGCCTTCTGCATCTCATTCTGGGGCCCCTTTCCAACCTTTGGAGTTGCCTCCTGGCGGAGCTTAACAGGCTGAGGCAGCTTCCTGAGCAGCCTGTGGTTGCTCCAGCCGGGTAGAGACAGCCACATTCCAAGCTCCGGGGTGGCAGGGAAGCTGGGTAGGGAGTTCCTACAGGGAGCGGCAGCCCAGGCTCGGGCAGGCAAGTGCTGAAGGGTGGCTCCGCCTTCCGCAGAAAGTCAGAGGCCGAGGAGATGGAAGAACAGGTGTTCAAGGGGGACCCGGACACCCCTCACTCCATCTCCTTCTCGGGCAGTGGATTCCTCTCCTTCTACCAGGCGGGGGCTGTGGACGCCCTGCGGGACCTGGCCCCCCGGATGCTGGAAACAGCCCACCGCTTTGCGGGGACACCGGCAGGTGCTGTGATCGCCGCCCTGGCCATCTGCGGGATTGAAATGGGTGAGGCCTGTGTTCTGGGTCCCCTGGGAAGTCTCTTGGGGGATTCCACAGAGACAGAAGGAGCGTGAGGGAGGCTGGGGATGCTTTGGGGGACAAAGCCAGGCCTGGGTGGCAGGAAGGGAAGGGAAGAGCTGGTTGGAGTAGGATAGCGGCAGCTGTGACGTTTGAAGGTTGGGGTCTGCCAGGCCCCAGACTCTAACATGCAGGGTGAGCCTGGACCCCTGTCCCTCTCCCTCAGTGCCCTTACCTGTGAGATGCTCTGTCTCCCAGTGCCTGGGAGAGTAAAGGACAGTATCTCCCTCGAACATCGAACATGGTGCTGTCAGAAGCTACACCACGGCACAGTCATACATTGGGGTTCAGTGTTGCTCCTGCCTGGCCTCTTTCAAAATGCAAATACCCTTGGGAGAGGCAACTCTTCAAATCTCTATCACCCTGATGGGGACGTATTGTCCACCATTTCCAGGTGGCTGGAAAGATGAACGCCCTGAGGCTGGAGGGGTAGACAGGAGGGAGCCCAGAGTGGGAGAAGAATAGGAAGGGGTGGGGAGAGAATACAGAAGCTCTCACTTCACCTTCTGTCCTGCTGGTCCAGGAGCCTCAGCGAGAAGAACTGCTACACTGCTAACCCAGAGAGAGAAACACTGTCCCGGACAGCAGATGCATCTAGCAGCCCCAAGGAACAAGCCCAACAGCCTAGTGAGCTACCTTGGAGGGGCATTTATTCATTTACAGAGCTCCTATTCTAGACAGAGCTCTGTTCCAGGCACTGAGGACAAGGTCCCCGCCCTTGTGGAGCAGAAATTCTAGAGAAAAGAAACAGATAATAAACATTCAAACAAGGCACCTTCTAGTGTGAGGTCGGGAAGTGATATGATCTATGAATAAAATTAAAGCAGGAAAGGGACTGAGAATGAAATGGAGACTATTTCAGGAAGGTGGTCAGGGAAGCCTTTCTGAGGAGGTGACATTCAAGCCTAGAGCTGGGTATAGTGATAGAACAAGCTACTGGGAGCTCCTGAAAAGGAGAATTCCTGGTGGAGGAGCAGCCACGAAGCCTGCGGTGTGGAAAAGGTGGTGGGAGGTCAACAGGGGCCAGGTCATGTGGCCTTAGCCACAAGCTCTCATCTCACCTAAGGGAGGGGGAGCACAGACGGCTGTGACAGCAAGTGGGGAGGGGGCAGAGGGCGTGAGCTCCTCAGGTGGGATCCCAGCTCTGCCATTTCATGATGCATGCCTGAAGTAAGTTATTGAACGTTCTGCGCCTCTGTTTCTCCGTCCACAAATGGGAGCTCCTAATAGCGCCTAGTTCCCGGCATTGTTACAGCAGCGGTCTCCAGTTGACACCAGCGACTGGTTTTGTGGAAGACAATTTTTCCACACACCAGGGTTGGTGGGGGATGGTTTCAGAATGATTCAAGCGCATTACATTTGTTGTGCACTTTACTTCTATTATCATTATGTTTTAATATATAATGAAATAATTATACAACTCACCATAAGGTAGAATCAGAGCCCTGAGCTTGTTTTCCTGCAAGTAGGCAGTCCCATCTGAGGGTGATGGGAGACAGTGACAGATCATTAGGCATTAGATTCTCATAAGGAGTGCACAACCTAGATCCCTCCCATGCACAGTTCACAATAAGGTTCACGCTCCTATAAGAATCTAGTGCTGCCACTGATCTGACAGGACGCGGAGCTCAGGCGGTAATGTGAGTGATGGGGAGCCGCTGTAAATACAGAAGAAGCTTCACCTGCTGCTTACCTCCTGCTGTGCGGCCTGGTTCCTAACAGGCCACAGACCCGGGGCCATGGCCTGGGGGTTGGGAACCCCTGGTTATAGGATTGGCTGAGCTAATATGAATACCTGCTTAGAACAATACCTGACATATGGCAAGTGTTGAGAATGTGGCAACCATCTGATTAGGCTTCTTAAGATCTCTGAACGATGGGCAGAGTGTGTTTGAGGGAGCAAGGTGGAAACTAGATAAGGGAAGAG
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Task1_train_10256
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The gene PNPLA1 (patatin like domain 1, omega-hydroxyceramide transacylase) on Chromosome 6 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Autosomal recessive congenital ichthyosis 10
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TCCCGCAGCCCACACCTCCGCCGCACAGCTCCTCAGATGTTCCAGCCCACACTGCTCAGCCCCGCCTCCTAACTTTTCTGGCAGGAATCTCAGCCCTGCACAGTTTAGTACTTAATTATAGATTGCCTTGTACAGTTTTCTGCTTATTTCACATTTGCCTGTCTTGTTCCCAAGAAGCCTGCAAATATCTGATTTGGGGATGGAGCTTCTGTGTGCTCCTGTCCCCCAGGGCCCCGACACAGCACAGGGCTTGGCACACAAGCCCTCAGTGGAGCTGACCTCACCTCCCAGGAAGGGGGCAGGGTCTCTGCTGTCCAAAAGCTGACTGGACTCCACCCTGACACACCCGCCCCCACCCCAGCAGTATGCCTCAGATATCTGCACACACATGCACACATGCATACACACGCATGTACGCACACACACTTTATCTAATCTAAAGCTCTCTTTTCAACCTGAGGCAATGATATGCCTGGAATTACCTACCCAAGACAGAAAACTCCCTCCTAACTGAAGCCTGGCCTTGCCCTCACTGTGGAATTCCCATGCAGATAAGTGAGTCCACCAGAATGGTGCAAGCTCCCCAGAAGCGGGGAAGCCACTGATGTCACATCCTGGATTGGCACTTGGTGGAGGCCTTGGTGTCTTGATTCTGATTCTGGTCCTGTTGCTGTGTGGTCTTTGAGGGGAGCGGGAGACGCCATCTTGCCTTCTTTGTTATATCTCCATGAGGGGACATTTTGTGGGTGTGAGAACCACTCCTCCCCATCAGGACCACATGATACAGCCCCTCAGGGGGCAGAACCGCAGCCCCTGGAGCTAACCCTGGTCCTCTCACACCACCTCCCTTACCAAAACGTCTCTCTGCCCTGACCCCGACGTCCCCACAGGTGACCTCCCCAGCTGCTCCTCCTTGGGGTTAAACATTGCTATCTCAAACTTCTCATTTCTGAGCGGGAAGAAGAACACGCAACACGAAGCCTCACACACTTAGAATGATCTAGATTTCAGGTTGATTTCTTCCTGCACACTTAGAAGATAGCATGAGGGCTTGGGGCTTGTCGAGAGGGCACTGACCAAGGTCACAGGGTCAGTGAAGGGCCCAGGAGAAGAAACAGAGAGAGGTGCAGAGGCGGTGGTGGGTGGGGCCGCCAAAGTCACACTTCTCTTAAAATTTTACCCAGGGCCAATGCTAACATGTAAATAAACAAGTGAATAAACAAAGGGGTGTTTATGTAAGAAAAACAAATAAAAATGCTTGTGTAACACATCACACATACCACATAGCCTGAAGGAGCCCAGGAGGGGCATCTCTTTTGGGGGACCCGTCCAAAAGAGATGGGGTAGGCACCGTCCTCCTGGAGGGAGGCGGGCTTGGAAGCCCTTCACGGCCGCAGCAGCATGTTGGGGAGGGAGGTGTACACCGATAACCATCACGGAGGTTTTGCAACTGAATGTTGCAGCTGAGGGCTGGGCAGAGCCCGCCTCCTTGGGCATGGCCCTGTGCTGGGGAGCAGTGAATGCGCCCTGGTATACCATGGATGGGCAGAGGGCTGAGGATCCCGTGCCCGAGATGAATCTAGCCAAGAAATGAAGCCAGTGGGGGGCTCACAGGACCAAGACCCTGCTCACACACCGGGGGAGCCTTCTGCATCTCATTCTGGGGCCCCTTTCCAACCTTTGGAGTTGCCTCCTGGCGGAGCTTAACAGGCTGAGGCAGCTTCCTGAGCAGCCTGTGGTTGCTCCAGCCGGGTAGAGACAGCCACATTCCAAGCTCCGGGGTGGCAGGGAAGCTGGGTAGGGAGTTCCTACAGGGAGCGGCAGCCCAGGCTCGGGCAGGCAAGTGCTGAAGGGTGGCTCCGCCTTCCGCAGAAAGTCAGAGGCCGAGGAGATGGAAGAACAGGTGTTCAAGGGGGACCCGGACACCCCTCACTCCATCTCCTTCTCGGGCAGTGGATTCCTCTCCTTCTACCAGGCGGGGGCTGTGGACGCCCTGCGGGACCTGGCCCCCCGGATGCTGGAAACAGCCCACCGCTTTGCGGGGACATCGGCAGGTGCTGTGATCGCCGCCCTGGCCATCTGCGGGATTGAAATGGGTGAGGCCTGTGTTCTGGGTCCCCTGGGAAGTCTCTTGGGGGATTCCACAGAGACAGAAGGAGCGTGAGGGAGGCTGGGGATGCTTTGGGGGACAAAGCCAGGCCTGGGTGGCAGGAAGGGAAGGGAAGAGCTGGTTGGAGTAGGATAGCGGCAGCTGTGACGTTTGAAGGTTGGGGTCTGCCAGGCCCCAGACTCTAACATGCAGGGTGAGCCTGGACCCCTGTCCCTCTCCCTCAGTGCCCTTACCTGTGAGATGCTCTGTCTCCCAGTGCCTGGGAGAGTAAAGGACAGTATCTCCCTCGAACATCGAACATGGTGCTGTCAGAAGCTACACCACGGCACAGTCATACATTGGGGTTCAGTGTTGCTCCTGCCTGGCCTCTTTCAAAATGCAAATACCCTTGGGAGAGGCAACTCTTCAAATCTCTATCACCCTGATGGGGACGTATTGTCCACCATTTCCAGGTGGCTGGAAAGATGAACGCCCTGAGGCTGGAGGGGTAGACAGGAGGGAGCCCAGAGTGGGAGAAGAATAGGAAGGGGTGGGGAGAGAATACAGAAGCTCTCACTTCACCTTCTGTCCTGCTGGTCCAGGAGCCTCAGCGAGAAGAACTGCTACACTGCTAACCCAGAGAGAGAAACACTGTCCCGGACAGCAGATGCATCTAGCAGCCCCAAGGAACAAGCCCAACAGCCTAGTGAGCTACCTTGGAGGGGCATTTATTCATTTACAGAGCTCCTATTCTAGACAGAGCTCTGTTCCAGGCACTGAGGACAAGGTCCCCGCCCTTGTGGAGCAGAAATTCTAGAGAAAAGAAACAGATAATAAACATTCAAACAAGGCACCTTCTAGTGTGAGGTCGGGAAGTGATATGATCTATGAATAAAATTAAAGCAGGAAAGGGACTGAGAATGAAATGGAGACTATTTCAGGAAGGTGGTCAGGGAAGCCTTTCTGAGGAGGTGACATTCAAGCCTAGAGCTGGGTATAGTGATAGAACAAGCTACTGGGAGCTCCTGAAAAGGAGAATTCCTGGTGGAGGAGCAGCCACGAAGCCTGCGGTGTGGAAAAGGTGGTGGGAGGTCAACAGGGGCCAGGTCATGTGGCCTTAGCCACAAGCTCTCATCTCACCTAAGGGAGGGGGAGCACAGACGGCTGTGACAGCAAGTGGGGAGGGGGCAGAGGGCGTGAGCTCCTCAGGTGGGATCCCAGCTCTGCCATTTCATGATGCATGCCTGAAGTAAGTTATTGAACGTTCTGCGCCTCTGTTTCTCCGTCCACAAATGGGAGCTCCTAATAGCGCCTAGTTCCCGGCATTGTTACAGCAGCGGTCTCCAGTTGACACCAGCGACTGGTTTTGTGGAAGACAATTTTTCCACACACCAGGGTTGGTGGGGGATGGTTTCAGAATGATTCAAGCGCATTACATTTGTTGTGCACTTTACTTCTATTATCATTATGTTTTAATATATAATGAAATAATTATACAACTCACCATAAGGTAGAATCAGAGCCCTGAGCTTGTTTTCCTGCAAGTAGGCAGTCCCATCTGAGGGTGATGGGAGACAGTGACAGATCATTAGGCATTAGATTCTCATAAGGAGTGCACAACCTAGATCCCTCCCATGCACAGTTCACAATAAGGTTCACGCTCCTATAAGAATCTAGTGCTGCCACTGATCTGACAGGACGCGGAGCTCAGGCGGTAATGTGAGTGATGGGGAGCCGCTGTAAATACAGAAGAAGCTTCACCTGCTGCTTACCTCCTGCTGTGCGGCCTGGTTCCTAACAGGCCACAGACCCGGGGCCATGGCCTGGGGGTTGGGAACCCCTGGTTATAGGATTGGCTGAGCTAATATGAATACCTGCTTAGAACAATACCTGACATATGGCAAGTGTTGAGAATGTGGCAACCATCTGATTAGGCTTCTTAAGATCTCTGAACGATGGGCAGAGTGTGTTTGAGGGAGCAAGGTGGAAACTAGATAAGGGAAGAGA
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TCCCGCAGCCCACACCTCCGCCGCACAGCTCCTCAGATGTTCCAGCCCACACTGCTCAGCCCCGCCTCCTAACTTTTCTGGCAGGAATCTCAGCCCTGCACAGTTTAGTACTTAATTATAGATTGCCTTGTACAGTTTTCTGCTTATTTCACATTTGCCTGTCTTGTTCCCAAGAAGCCTGCAAATATCTGATTTGGGGATGGAGCTTCTGTGTGCTCCTGTCCCCCAGGGCCCCGACACAGCACAGGGCTTGGCACACAAGCCCTCAGTGGAGCTGACCTCACCTCCCAGGAAGGGGGCAGGGTCTCTGCTGTCCAAAAGCTGACTGGACTCCACCCTGACACACCCGCCCCCACCCCAGCAGTATGCCTCAGATATCTGCACACACATGCACACATGCATACACACGCATGTACGCACACACACTTTATCTAATCTAAAGCTCTCTTTTCAACCTGAGGCAATGATATGCCTGGAATTACCTACCCAAGACAGAAAACTCCCTCCTAACTGAAGCCTGGCCTTGCCCTCACTGTGGAATTCCCATGCAGATAAGTGAGTCCACCAGAATGGTGCAAGCTCCCCAGAAGCGGGGAAGCCACTGATGTCACATCCTGGATTGGCACTTGGTGGAGGCCTTGGTGTCTTGATTCTGATTCTGGTCCTGTTGCTGTGTGGTCTTTGAGGGGAGCGGGAGACGCCATCTTGCCTTCTTTGTTATATCTCCATGAGGGGACATTTTGTGGGTGTGAGAACCACTCCTCCCCATCAGGACCACATGATACAGCCCCTCAGGGGGCAGAACCGCAGCCCCTGGAGCTAACCCTGGTCCTCTCACACCACCTCCCTTACCAAAACGTCTCTCTGCCCTGACCCCGACGTCCCCACAGGTGACCTCCCCAGCTGCTCCTCCTTGGGGTTAAACATTGCTATCTCAAACTTCTCATTTCTGAGCGGGAAGAAGAACACGCAACACGAAGCCTCACACACTTAGAATGATCTAGATTTCAGGTTGATTTCTTCCTGCACACTTAGAAGATAGCATGAGGGCTTGGGGCTTGTCGAGAGGGCACTGACCAAGGTCACAGGGTCAGTGAAGGGCCCAGGAGAAGAAACAGAGAGAGGTGCAGAGGCGGTGGTGGGTGGGGCCGCCAAAGTCACACTTCTCTTAAAATTTTACCCAGGGCCAATGCTAACATGTAAATAAACAAGTGAATAAACAAAGGGGTGTTTATGTAAGAAAAACAAATAAAAATGCTTGTGTAACACATCACACATACCACATAGCCTGAAGGAGCCCAGGAGGGGCATCTCTTTTGGGGGACCCGTCCAAAAGAGATGGGGTAGGCACCGTCCTCCTGGAGGGAGGCGGGCTTGGAAGCCCTTCACGGCCGCAGCAGCATGTTGGGGAGGGAGGTGTACACCGATAACCATCACGGAGGTTTTGCAACTGAATGTTGCAGCTGAGGGCTGGGCAGAGCCCGCCTCCTTGGGCATGGCCCTGTGCTGGGGAGCAGTGAATGCGCCCTGGTATACCATGGATGGGCAGAGGGCTGAGGATCCCGTGCCCGAGATGAATCTAGCCAAGAAATGAAGCCAGTGGGGGGCTCACAGGACCAAGACCCTGCTCACACACCGGGGGAGCCTTCTGCATCTCATTCTGGGGCCCCTTTCCAACCTTTGGAGTTGCCTCCTGGCGGAGCTTAACAGGCTGAGGCAGCTTCCTGAGCAGCCTGTGGTTGCTCCAGCCGGGTAGAGACAGCCACATTCCAAGCTCCGGGGTGGCAGGGAAGCTGGGTAGGGAGTTCCTACAGGGAGCGGCAGCCCAGGCTCGGGCAGGCAAGTGCTGAAGGGTGGCTCCGCCTTCCGCAGAAAGTCAGAGGCCGAGGAGATGGAAGAACAGGTGTTCAAGGGGGACCCGGACACCCCTCACTCCATCTCCTTCTCGGGCAGTGGATTCCTCTCCTTCTACCAGGCGGGGGCTGTGGACGCCCTGCGGGACCTGGCCCCCCGGATGCTGGAAACAGCCCACCGCTTTGCGGGGACATGGGCAGGTGCTGTGATCGCCGCCCTGGCCATCTGCGGGATTGAAATGGGTGAGGCCTGTGTTCTGGGTCCCCTGGGAAGTCTCTTGGGGGATTCCACAGAGACAGAAGGAGCGTGAGGGAGGCTGGGGATGCTTTGGGGGACAAAGCCAGGCCTGGGTGGCAGGAAGGGAAGGGAAGAGCTGGTTGGAGTAGGATAGCGGCAGCTGTGACGTTTGAAGGTTGGGGTCTGCCAGGCCCCAGACTCTAACATGCAGGGTGAGCCTGGACCCCTGTCCCTCTCCCTCAGTGCCCTTACCTGTGAGATGCTCTGTCTCCCAGTGCCTGGGAGAGTAAAGGACAGTATCTCCCTCGAACATCGAACATGGTGCTGTCAGAAGCTACACCACGGCACAGTCATACATTGGGGTTCAGTGTTGCTCCTGCCTGGCCTCTTTCAAAATGCAAATACCCTTGGGAGAGGCAACTCTTCAAATCTCTATCACCCTGATGGGGACGTATTGTCCACCATTTCCAGGTGGCTGGAAAGATGAACGCCCTGAGGCTGGAGGGGTAGACAGGAGGGAGCCCAGAGTGGGAGAAGAATAGGAAGGGGTGGGGAGAGAATACAGAAGCTCTCACTTCACCTTCTGTCCTGCTGGTCCAGGAGCCTCAGCGAGAAGAACTGCTACACTGCTAACCCAGAGAGAGAAACACTGTCCCGGACAGCAGATGCATCTAGCAGCCCCAAGGAACAAGCCCAACAGCCTAGTGAGCTACCTTGGAGGGGCATTTATTCATTTACAGAGCTCCTATTCTAGACAGAGCTCTGTTCCAGGCACTGAGGACAAGGTCCCCGCCCTTGTGGAGCAGAAATTCTAGAGAAAAGAAACAGATAATAAACATTCAAACAAGGCACCTTCTAGTGTGAGGTCGGGAAGTGATATGATCTATGAATAAAATTAAAGCAGGAAAGGGACTGAGAATGAAATGGAGACTATTTCAGGAAGGTGGTCAGGGAAGCCTTTCTGAGGAGGTGACATTCAAGCCTAGAGCTGGGTATAGTGATAGAACAAGCTACTGGGAGCTCCTGAAAAGGAGAATTCCTGGTGGAGGAGCAGCCACGAAGCCTGCGGTGTGGAAAAGGTGGTGGGAGGTCAACAGGGGCCAGGTCATGTGGCCTTAGCCACAAGCTCTCATCTCACCTAAGGGAGGGGGAGCACAGACGGCTGTGACAGCAAGTGGGGAGGGGGCAGAGGGCGTGAGCTCCTCAGGTGGGATCCCAGCTCTGCCATTTCATGATGCATGCCTGAAGTAAGTTATTGAACGTTCTGCGCCTCTGTTTCTCCGTCCACAAATGGGAGCTCCTAATAGCGCCTAGTTCCCGGCATTGTTACAGCAGCGGTCTCCAGTTGACACCAGCGACTGGTTTTGTGGAAGACAATTTTTCCACACACCAGGGTTGGTGGGGGATGGTTTCAGAATGATTCAAGCGCATTACATTTGTTGTGCACTTTACTTCTATTATCATTATGTTTTAATATATAATGAAATAATTATACAACTCACCATAAGGTAGAATCAGAGCCCTGAGCTTGTTTTCCTGCAAGTAGGCAGTCCCATCTGAGGGTGATGGGAGACAGTGACAGATCATTAGGCATTAGATTCTCATAAGGAGTGCACAACCTAGATCCCTCCCATGCACAGTTCACAATAAGGTTCACGCTCCTATAAGAATCTAGTGCTGCCACTGATCTGACAGGACGCGGAGCTCAGGCGGTAATGTGAGTGATGGGGAGCCGCTGTAAATACAGAAGAAGCTTCACCTGCTGCTTACCTCCTGCTGTGCGGCCTGGTTCCTAACAGGCCACAGACCCGGGGCCATGGCCTGGGGGTTGGGAACCCCTGGTTATAGGATTGGCTGAGCTAATATGAATACCTGCTTAGAACAATACCTGACATATGGCAAGTGTTGAGAATGTGGCAACCATCTGATTAGGCTTCTTAAGATCTCTGAACGATGGGCAGAGTGTGTTTGAGGGAGCAAGGTGGAAACTAGATAAGGGAAGAGA
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Task1_train_10257
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The gene PNPLA1 (patatin like domain 1, omega-hydroxyceramide transacylase) on Chromosome 6 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Autosomal recessive congenital ichthyosis 10
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CGCCGCACAGCTCCTCAGATGTTCCAGCCCACACTGCTCAGCCCCGCCTCCTAACTTTTCTGGCAGGAATCTCAGCCCTGCACAGTTTAGTACTTAATTATAGATTGCCTTGTACAGTTTTCTGCTTATTTCACATTTGCCTGTCTTGTTCCCAAGAAGCCTGCAAATATCTGATTTGGGGATGGAGCTTCTGTGTGCTCCTGTCCCCCAGGGCCCCGACACAGCACAGGGCTTGGCACACAAGCCCTCAGTGGAGCTGACCTCACCTCCCAGGAAGGGGGCAGGGTCTCTGCTGTCCAAAAGCTGACTGGACTCCACCCTGACACACCCGCCCCCACCCCAGCAGTATGCCTCAGATATCTGCACACACATGCACACATGCATACACACGCATGTACGCACACACACTTTATCTAATCTAAAGCTCTCTTTTCAACCTGAGGCAATGATATGCCTGGAATTACCTACCCAAGACAGAAAACTCCCTCCTAACTGAAGCCTGGCCTTGCCCTCACTGTGGAATTCCCATGCAGATAAGTGAGTCCACCAGAATGGTGCAAGCTCCCCAGAAGCGGGGAAGCCACTGATGTCACATCCTGGATTGGCACTTGGTGGAGGCCTTGGTGTCTTGATTCTGATTCTGGTCCTGTTGCTGTGTGGTCTTTGAGGGGAGCGGGAGACGCCATCTTGCCTTCTTTGTTATATCTCCATGAGGGGACATTTTGTGGGTGTGAGAACCACTCCTCCCCATCAGGACCACATGATACAGCCCCTCAGGGGGCAGAACCGCAGCCCCTGGAGCTAACCCTGGTCCTCTCACACCACCTCCCTTACCAAAACGTCTCTCTGCCCTGACCCCGACGTCCCCACAGGTGACCTCCCCAGCTGCTCCTCCTTGGGGTTAAACATTGCTATCTCAAACTTCTCATTTCTGAGCGGGAAGAAGAACACGCAACACGAAGCCTCACACACTTAGAATGATCTAGATTTCAGGTTGATTTCTTCCTGCACACTTAGAAGATAGCATGAGGGCTTGGGGCTTGTCGAGAGGGCACTGACCAAGGTCACAGGGTCAGTGAAGGGCCCAGGAGAAGAAACAGAGAGAGGTGCAGAGGCGGTGGTGGGTGGGGCCGCCAAAGTCACACTTCTCTTAAAATTTTACCCAGGGCCAATGCTAACATGTAAATAAACAAGTGAATAAACAAAGGGGTGTTTATGTAAGAAAAACAAATAAAAATGCTTGTGTAACACATCACACATACCACATAGCCTGAAGGAGCCCAGGAGGGGCATCTCTTTTGGGGGACCCGTCCAAAAGAGATGGGGTAGGCACCGTCCTCCTGGAGGGAGGCGGGCTTGGAAGCCCTTCACGGCCGCAGCAGCATGTTGGGGAGGGAGGTGTACACCGATAACCATCACGGAGGTTTTGCAACTGAATGTTGCAGCTGAGGGCTGGGCAGAGCCCGCCTCCTTGGGCATGGCCCTGTGCTGGGGAGCAGTGAATGCGCCCTGGTATACCATGGATGGGCAGAGGGCTGAGGATCCCGTGCCCGAGATGAATCTAGCCAAGAAATGAAGCCAGTGGGGGGCTCACAGGACCAAGACCCTGCTCACACACCGGGGGAGCCTTCTGCATCTCATTCTGGGGCCCCTTTCCAACCTTTGGAGTTGCCTCCTGGCGGAGCTTAACAGGCTGAGGCAGCTTCCTGAGCAGCCTGTGGTTGCTCCAGCCGGGTAGAGACAGCCACATTCCAAGCTCCGGGGTGGCAGGGAAGCTGGGTAGGGAGTTCCTACAGGGAGCGGCAGCCCAGGCTCGGGCAGGCAAGTGCTGAAGGGTGGCTCCGCCTTCCGCAGAAAGTCAGAGGCCGAGGAGATGGAAGAACAGGTGTTCAAGGGGGACCCGGACACCCCTCACTCCATCTCCTTCTCGGGCAGTGGATTCCTCTCCTTCTACCAGGCGGGGGCTGTGGACGCCCTGCGGGACCTGGCCCCCCGGATGCTGGAAACAGCCCACCGCTTTGCGGGGACATCGGCAGGTGCTGTGATCGCCGCCCTGGCCATCTGCGGGATTGAAATGGGTGAGGCCTGTGTTCTGGGTCCCCTGGGAAGTCTCTTGGGGGATTCCACAGAGACAGAAGGAGCGTGAGGGAGGCTGGGGATGCTTTGGGGGACAAAGCCAGGCCTGGGTGGCAGGAAGGGAAGGGAAGAGCTGGTTGGAGTAGGATAGCGGCAGCTGTGACGTTTGAAGGTTGGGGTCTGCCAGGCCCCAGACTCTAACATGCAGGGTGAGCCTGGACCCCTGTCCCTCTCCCTCAGTGCCCTTACCTGTGAGATGCTCTGTCTCCCAGTGCCTGGGAGAGTAAAGGACAGTATCTCCCTCGAACATCGAACATGGTGCTGTCAGAAGCTACACCACGGCACAGTCATACATTGGGGTTCAGTGTTGCTCCTGCCTGGCCTCTTTCAAAATGCAAATACCCTTGGGAGAGGCAACTCTTCAAATCTCTATCACCCTGATGGGGACGTATTGTCCACCATTTCCAGGTGGCTGGAAAGATGAACGCCCTGAGGCTGGAGGGGTAGACAGGAGGGAGCCCAGAGTGGGAGAAGAATAGGAAGGGGTGGGGAGAGAATACAGAAGCTCTCACTTCACCTTCTGTCCTGCTGGTCCAGGAGCCTCAGCGAGAAGAACTGCTACACTGCTAACCCAGAGAGAGAAACACTGTCCCGGACAGCAGATGCATCTAGCAGCCCCAAGGAACAAGCCCAACAGCCTAGTGAGCTACCTTGGAGGGGCATTTATTCATTTACAGAGCTCCTATTCTAGACAGAGCTCTGTTCCAGGCACTGAGGACAAGGTCCCCGCCCTTGTGGAGCAGAAATTCTAGAGAAAAGAAACAGATAATAAACATTCAAACAAGGCACCTTCTAGTGTGAGGTCGGGAAGTGATATGATCTATGAATAAAATTAAAGCAGGAAAGGGACTGAGAATGAAATGGAGACTATTTCAGGAAGGTGGTCAGGGAAGCCTTTCTGAGGAGGTGACATTCAAGCCTAGAGCTGGGTATAGTGATAGAACAAGCTACTGGGAGCTCCTGAAAAGGAGAATTCCTGGTGGAGGAGCAGCCACGAAGCCTGCGGTGTGGAAAAGGTGGTGGGAGGTCAACAGGGGCCAGGTCATGTGGCCTTAGCCACAAGCTCTCATCTCACCTAAGGGAGGGGGAGCACAGACGGCTGTGACAGCAAGTGGGGAGGGGGCAGAGGGCGTGAGCTCCTCAGGTGGGATCCCAGCTCTGCCATTTCATGATGCATGCCTGAAGTAAGTTATTGAACGTTCTGCGCCTCTGTTTCTCCGTCCACAAATGGGAGCTCCTAATAGCGCCTAGTTCCCGGCATTGTTACAGCAGCGGTCTCCAGTTGACACCAGCGACTGGTTTTGTGGAAGACAATTTTTCCACACACCAGGGTTGGTGGGGGATGGTTTCAGAATGATTCAAGCGCATTACATTTGTTGTGCACTTTACTTCTATTATCATTATGTTTTAATATATAATGAAATAATTATACAACTCACCATAAGGTAGAATCAGAGCCCTGAGCTTGTTTTCCTGCAAGTAGGCAGTCCCATCTGAGGGTGATGGGAGACAGTGACAGATCATTAGGCATTAGATTCTCATAAGGAGTGCACAACCTAGATCCCTCCCATGCACAGTTCACAATAAGGTTCACGCTCCTATAAGAATCTAGTGCTGCCACTGATCTGACAGGACGCGGAGCTCAGGCGGTAATGTGAGTGATGGGGAGCCGCTGTAAATACAGAAGAAGCTTCACCTGCTGCTTACCTCCTGCTGTGCGGCCTGGTTCCTAACAGGCCACAGACCCGGGGCCATGGCCTGGGGGTTGGGAACCCCTGGTTATAGGATTGGCTGAGCTAATATGAATACCTGCTTAGAACAATACCTGACATATGGCAAGTGTTGAGAATGTGGCAACCATCTGATTAGGCTTCTTAAGATCTCTGAACGATGGGCAGAGTGTGTTTGAGGGAGCAAGGTGGAAACTAGATAAGGGAAGAGATTGGATTCAGGACGTGCT
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CGCCGCACAGCTCCTCAGATGTTCCAGCCCACACTGCTCAGCCCCGCCTCCTAACTTTTCTGGCAGGAATCTCAGCCCTGCACAGTTTAGTACTTAATTATAGATTGCCTTGTACAGTTTTCTGCTTATTTCACATTTGCCTGTCTTGTTCCCAAGAAGCCTGCAAATATCTGATTTGGGGATGGAGCTTCTGTGTGCTCCTGTCCCCCAGGGCCCCGACACAGCACAGGGCTTGGCACACAAGCCCTCAGTGGAGCTGACCTCACCTCCCAGGAAGGGGGCAGGGTCTCTGCTGTCCAAAAGCTGACTGGACTCCACCCTGACACACCCGCCCCCACCCCAGCAGTATGCCTCAGATATCTGCACACACATGCACACATGCATACACACGCATGTACGCACACACACTTTATCTAATCTAAAGCTCTCTTTTCAACCTGAGGCAATGATATGCCTGGAATTACCTACCCAAGACAGAAAACTCCCTCCTAACTGAAGCCTGGCCTTGCCCTCACTGTGGAATTCCCATGCAGATAAGTGAGTCCACCAGAATGGTGCAAGCTCCCCAGAAGCGGGGAAGCCACTGATGTCACATCCTGGATTGGCACTTGGTGGAGGCCTTGGTGTCTTGATTCTGATTCTGGTCCTGTTGCTGTGTGGTCTTTGAGGGGAGCGGGAGACGCCATCTTGCCTTCTTTGTTATATCTCCATGAGGGGACATTTTGTGGGTGTGAGAACCACTCCTCCCCATCAGGACCACATGATACAGCCCCTCAGGGGGCAGAACCGCAGCCCCTGGAGCTAACCCTGGTCCTCTCACACCACCTCCCTTACCAAAACGTCTCTCTGCCCTGACCCCGACGTCCCCACAGGTGACCTCCCCAGCTGCTCCTCCTTGGGGTTAAACATTGCTATCTCAAACTTCTCATTTCTGAGCGGGAAGAAGAACACGCAACACGAAGCCTCACACACTTAGAATGATCTAGATTTCAGGTTGATTTCTTCCTGCACACTTAGAAGATAGCATGAGGGCTTGGGGCTTGTCGAGAGGGCACTGACCAAGGTCACAGGGTCAGTGAAGGGCCCAGGAGAAGAAACAGAGAGAGGTGCAGAGGCGGTGGTGGGTGGGGCCGCCAAAGTCACACTTCTCTTAAAATTTTACCCAGGGCCAATGCTAACATGTAAATAAACAAGTGAATAAACAAAGGGGTGTTTATGTAAGAAAAACAAATAAAAATGCTTGTGTAACACATCACACATACCACATAGCCTGAAGGAGCCCAGGAGGGGCATCTCTTTTGGGGGACCCGTCCAAAAGAGATGGGGTAGGCACCGTCCTCCTGGAGGGAGGCGGGCTTGGAAGCCCTTCACGGCCGCAGCAGCATGTTGGGGAGGGAGGTGTACACCGATAACCATCACGGAGGTTTTGCAACTGAATGTTGCAGCTGAGGGCTGGGCAGAGCCCGCCTCCTTGGGCATGGCCCTGTGCTGGGGAGCAGTGAATGCGCCCTGGTATACCATGGATGGGCAGAGGGCTGAGGATCCCGTGCCCGAGATGAATCTAGCCAAGAAATGAAGCCAGTGGGGGGCTCACAGGACCAAGACCCTGCTCACACACCGGGGGAGCCTTCTGCATCTCATTCTGGGGCCCCTTTCCAACCTTTGGAGTTGCCTCCTGGCGGAGCTTAACAGGCTGAGGCAGCTTCCTGAGCAGCCTGTGGTTGCTCCAGCCGGGTAGAGACAGCCACATTCCAAGCTCCGGGGTGGCAGGGAAGCTGGGTAGGGAGTTCCTACAGGGAGCGGCAGCCCAGGCTCGGGCAGGCAAGTGCTGAAGGGTGGCTCCGCCTTCCGCAGAAAGTCAGAGGCCGAGGAGATGGAAGAACAGGTGTTCAAGGGGGACCCGGACACCCCTCACTCCATCTCCTTCTCGGGCAGTGGATTCCTCTCCTTCTACCAGGCGGGGGCTGTGGACGCCCTGCGGGACCTGGCCCCCCGGATGCTGGAAACAGCCCACCGCTTTGCGGGGACATCGGCAGGTGCTGTGATCGTCGCCCTGGCCATCTGCGGGATTGAAATGGGTGAGGCCTGTGTTCTGGGTCCCCTGGGAAGTCTCTTGGGGGATTCCACAGAGACAGAAGGAGCGTGAGGGAGGCTGGGGATGCTTTGGGGGACAAAGCCAGGCCTGGGTGGCAGGAAGGGAAGGGAAGAGCTGGTTGGAGTAGGATAGCGGCAGCTGTGACGTTTGAAGGTTGGGGTCTGCCAGGCCCCAGACTCTAACATGCAGGGTGAGCCTGGACCCCTGTCCCTCTCCCTCAGTGCCCTTACCTGTGAGATGCTCTGTCTCCCAGTGCCTGGGAGAGTAAAGGACAGTATCTCCCTCGAACATCGAACATGGTGCTGTCAGAAGCTACACCACGGCACAGTCATACATTGGGGTTCAGTGTTGCTCCTGCCTGGCCTCTTTCAAAATGCAAATACCCTTGGGAGAGGCAACTCTTCAAATCTCTATCACCCTGATGGGGACGTATTGTCCACCATTTCCAGGTGGCTGGAAAGATGAACGCCCTGAGGCTGGAGGGGTAGACAGGAGGGAGCCCAGAGTGGGAGAAGAATAGGAAGGGGTGGGGAGAGAATACAGAAGCTCTCACTTCACCTTCTGTCCTGCTGGTCCAGGAGCCTCAGCGAGAAGAACTGCTACACTGCTAACCCAGAGAGAGAAACACTGTCCCGGACAGCAGATGCATCTAGCAGCCCCAAGGAACAAGCCCAACAGCCTAGTGAGCTACCTTGGAGGGGCATTTATTCATTTACAGAGCTCCTATTCTAGACAGAGCTCTGTTCCAGGCACTGAGGACAAGGTCCCCGCCCTTGTGGAGCAGAAATTCTAGAGAAAAGAAACAGATAATAAACATTCAAACAAGGCACCTTCTAGTGTGAGGTCGGGAAGTGATATGATCTATGAATAAAATTAAAGCAGGAAAGGGACTGAGAATGAAATGGAGACTATTTCAGGAAGGTGGTCAGGGAAGCCTTTCTGAGGAGGTGACATTCAAGCCTAGAGCTGGGTATAGTGATAGAACAAGCTACTGGGAGCTCCTGAAAAGGAGAATTCCTGGTGGAGGAGCAGCCACGAAGCCTGCGGTGTGGAAAAGGTGGTGGGAGGTCAACAGGGGCCAGGTCATGTGGCCTTAGCCACAAGCTCTCATCTCACCTAAGGGAGGGGGAGCACAGACGGCTGTGACAGCAAGTGGGGAGGGGGCAGAGGGCGTGAGCTCCTCAGGTGGGATCCCAGCTCTGCCATTTCATGATGCATGCCTGAAGTAAGTTATTGAACGTTCTGCGCCTCTGTTTCTCCGTCCACAAATGGGAGCTCCTAATAGCGCCTAGTTCCCGGCATTGTTACAGCAGCGGTCTCCAGTTGACACCAGCGACTGGTTTTGTGGAAGACAATTTTTCCACACACCAGGGTTGGTGGGGGATGGTTTCAGAATGATTCAAGCGCATTACATTTGTTGTGCACTTTACTTCTATTATCATTATGTTTTAATATATAATGAAATAATTATACAACTCACCATAAGGTAGAATCAGAGCCCTGAGCTTGTTTTCCTGCAAGTAGGCAGTCCCATCTGAGGGTGATGGGAGACAGTGACAGATCATTAGGCATTAGATTCTCATAAGGAGTGCACAACCTAGATCCCTCCCATGCACAGTTCACAATAAGGTTCACGCTCCTATAAGAATCTAGTGCTGCCACTGATCTGACAGGACGCGGAGCTCAGGCGGTAATGTGAGTGATGGGGAGCCGCTGTAAATACAGAAGAAGCTTCACCTGCTGCTTACCTCCTGCTGTGCGGCCTGGTTCCTAACAGGCCACAGACCCGGGGCCATGGCCTGGGGGTTGGGAACCCCTGGTTATAGGATTGGCTGAGCTAATATGAATACCTGCTTAGAACAATACCTGACATATGGCAAGTGTTGAGAATGTGGCAACCATCTGATTAGGCTTCTTAAGATCTCTGAACGATGGGCAGAGTGTGTTTGAGGGAGCAAGGTGGAAACTAGATAAGGGAAGAGATTGGATTCAGGACGTGCT
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Task1_train_10258
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This variant affects gene PNPLA1 (patatin like domain 1, omega-hydroxyceramide transacylase) located on Chromosome 6. Evaluate its biological effect and specify any disease association.
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Pathogenic; Congenital ichthyosiform erythroderma
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CTGCCCTCCCTTGAAGGTAAACACTGTTTACCTCTGTTGGCACATGGTAAGGCTAACCTCACTAAAACCGTAGGGCCTTTCTGCCTCCCAGGAGCACCCTCCCCTGTAGGAGGGTGACAATTACGATGCTGCATTGCTCAGGGAGGTCCCTGCTACACATATGCAGGTGTGATTCTGAAGGTTCGAAAAAAAAAAAGGCTGTCACCATGGCAACCCAGGCTTGCTCAGCCTCTTCATTCCTGAGATCAGTCCAAGCCCCAGGGAAAGAAGGTGGGGTATGGAGTCAGAAAAATCACTGCCTGGCTGCCTGACCTCAGGCAAGACACTTAGCTTTTCTCTGTGTCAGTTTCTGCGTCTGTAAAATGGTGCTGAAGCTTTTCTTACTCACCTCCAGGACTGGGGTGGAATAATCGGTAAACCATAAAACACAGGAGGAGTAGGGCATCCTTAGTTTTGGCTTGTCCCCAGATTGCCATGTGACTTTGGGTAAATCACTTAACCTCTCTGTGTCTCAGGTGCTCTATTTATAAATAGGCGAGTAAGGCACACTGATTACTTCCCGGATATATTGCAAGGTGCCTGTGAGAATCCCAGAATCTCAAAGTTGGAAGGAATCTTAGCCCTTAGCACTCATGCAGGAATCTTTTTGATAAACTCTCTGACAGAGATACTTGCCTAGCCTCTGCCTGGTTACCTCCTGTGGCAAAAAACTCATGACCGCACAGCTTCCCATGTAGCCATTGCTACATGACACTAACCATAAGAAAGTTCTACCATATAGCGTATCATAGCATATTTTACAAATAAATGTTTGTTTTAAAAAAGTTAGCAATCCTTTCCAGAGCTATTTTCACTCCTGATTTTCCCAAAGGCTTGCACAGGGTAGAGATGAGCAGGGGTCAGCAAAAAGCAGGTGTGGGCTCGGCTGCAGAAGAAGCTTTTGGCTTAGTGTAATAGCAGGAGCCTGGGCTCTGGGGTCACACATCCTAGGTTGAAATGCTACTTTACCCACTTACAAACTGGCTGACGCTGACCCTGGGAAAGTTATATTACCTATCTGAGCCTCAGTTTCCTGATCAGTAAAAGGAAGATAGAAATACCTACCTCCCAGTATTGTTGTGGGAATTAAGCAAGTTAGCACTTCTTATTAAGCTTACAACCCAGACTTCCCTGGTGGGGTTCTGGGGACTTGGGGTGGGGAAGATTACACCCTCCTCTGCCACCCCCGAATAGCGCATCTGCCCACTGAGCAAATGGCACAGGCGAGCCTTACATAGTCCATATCTCAGGGTCATCTCCCTCTCAGACCTGGACCAGGGCCATAAAGGAAAGATGATGCAATGGTTTCAAGACAAAGTTCACCTCCTCCTCATGATTCACCGGCCCAAGGCCAGCACCCCTTCCCTGCCCACAGACTCAGTGGGCACCAAGCAAGTATCCCAGGGCGTCACTTAGGAACAACTTCCAACTGCACCAGTGTTTTAATAGGAATCTCATACAGGACCCCAAAAATGTCATCTGGCAGTGGACTTCCAGGCAGAGTGACAAGAAGTTAGGGAAAGCTATTGGGGGTTGGGCTAAAGTGTTCCTTTAGCTGTTGATATGAAGGTGTCTGTCACGTAATGACTCCTGGACAAAGGTCAGGATGCCTGGGTCCAGCTCCATCATTGCCTAGCTCTGGGCTCTCCGGAGCCAGCGACTTCCTTCCTCAATATCTTGCTTCCGTCATGTGCAAGACAGCAGGCCGATTCCTGGGGTTTTCCCAGCTTCCGAATTCTAGGTTTCCCCATTTGTTGGATTCAGAGATGAGTTGGAGAAACCACCCTAGACCTCCCTTGGCCCCTGGCCACTGGGTGGCACCGACCACCCCCTCTTCTCTGCTTCCTTTGCAGATGAGTATCTCAGAGTCCTCAACGTGGGTGTGGCCGAGGTGAAGAAATCCTTCCTGGGGCCCTTGTCCCCGTCCTGTAAGATGGTGCAGATGATGAGGCAGTTTCTGTACCGGGTCCTGCCCGAGGACTCCTACAAGGTCACCACGGGGAAGCTCCATGTGAGCCTCACCCGCTTAACGGACGGGGAGAATGTGGTGGTTTCAGAGTTCACGTCCAAGGAGGAGCTCATTGAGGCAAGGGGGCTGGGCTGGGAGGGAGGGACACGGAGGGGGCGGGGGAGGGCGGCTCCTGCTCTTTCTCCACAGCTCAACCCGATGCCTTATCCACCTGCCTCACTTCCCTAGTCCTTCCCTTCCTTCATGCCCCCAGAGTCTCGCTGTGCAAGGTGCAGTGCTAGATGAGATGGACACAGAAGCCCAGGACGAACCAGGCTTGACCGCCACCCTCAATGCTTCGGCCTTCACATCCATCCTGCCCGGCCCCCTGCGCTAAGCCTGGAGCTTCCCAGAGGCCCAGGTGTGACTTGCAGAGGGCCTGGGTCTCCTTCAGGGCCTTCCAGGCTGGGCTGCCATGCATCCCCCCAGAATTACTCCCACTTTGTGGGAACGGTCAGGGGAGAGGGGCCCCCATGTCCCCTTTCTGCCCCCTCTCTTCCAGTGGCCCTTGATAAGGGATTGAATGGTTACCAAATCAGTTAACACTTAGAAAAGTGCACGCTAATCCTGAGTGCGCTGCCCTAAGCTCATTAATATTAATTTTAGTTATGAATAATGATTGCTGGAAAGGGCCGCAGGTAGGTCCCAGTGTCTTTCGGGACAAAGGGGTTAAGCTGTGTGGCCTCCTTCCCACATCTCCACTCTCCTTCCTTCCCCCACATACAGGGGCTTCGCCACTCCATCCTCATCCCATACTGGCCTGGCAGTAATCCTGGGGATGAGGGATGAATAGGCAGTGGGCACAGACACCACCTCCGTCCCTCAGGCCCCCTGGGTTTATCAGCAGCCAGCTCTTCCAGATCTGCCTCCTCACGCCCACCCCCGTTCTGACTTCACTGCCCACTGCTGCAGTTTTCTCTTCCCGGCCCTCTCCCCCACCTTCCACTCCTACCATGCCAACCCTAGCAAACCACACACAAGCCAGGCCTCTGGGTCTTTGCACCTGCCGCTCCCTCTGCCTGGGATCCCCTCCCTCCTTCCCACACTGCTTTGCCTGCTGCTGAAACCCAGTCCCTCCTGCCAGGGCACTTCCCTTCATCCCCTCCCACCCTGCCTGCACCCCTCTTGTGGAGCCACGGTGCCCATGCTCACCTCCACCATGCCCCTGTCACCCCACTGCACCGTCACCCACTTGCTCACTCCCTCTCATAGGGCACTCCCAAAGGTGGGCCTCTCAGCCTCCTTTGCTTCCAGGGCCTGGCCCAGGGCTGACACACATTAATGGTTGTTGAATCCCACTGGATTCATGAAAGTTCAGCATCAGAAGGAACCCCGAAGCTATGGAGGACCCCCTCCTGCTTTAAAGCTGGGACATCAGGGCCAGATGGACCAAGCAGGTTACCAAGGACCCAATTAGTGAAGGCCAGGCCAGGAACTGAACTCGGAGCTTTGCTTCCCAGTGTGGCACCTTCACCTAGAATTTAAGGAGGTCTGGGCTGGTGGTGGGTGGCCCAGGGGCTGACAGGTGAGCTGTCCCCACCCCACCCCCGGGCCTCCAGCATCTCAGCCCTGTTCTCTCCGCACAGGCCCTATACTGCAGCTGCTTCGTCCCGGTGTACTGTGGCCTCATCCCCCCGACTTACCGCGGTGTGGTGAGTGCTTCGGCATGGTGAGGGGTGAGATGGGATCCAAGGGACCTCGGGTCCCTGTGACTCACACCTGGGGGAGCAGGGGGGTGGTCTCAGAATGCAGCGGGAGGACCTAGAGTTGGAGAGTTTCTCATGTTGTTACTCAGAATTCCCAATGTAGGTGGCTTTCTGGGCCTTTAAGATGAACTTCTCCAGCTGGGGTGGGTTCCTCTCTGGACCCACCTACCCACTGCCAAGCCGGGCAAATCAAGGCTCCATAGGCTTGGCAGGTTTTCCCAGACTTGACAGAGCAGAGGAGATGAAGCACTGGGACCTGGAAACTCAAATGATGAGGATGTTTTCTGAGGCCTGTAGGCCAGGGCCTTACAGACTTTAATGTGCCCTTGAATCACTCGGGGTC
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CTGCCCTCCCTTGAAGGTAAACACTGTTTACCTCTGTTGGCACATGGTAAGGCTAACCTCACTAAAACCGTAGGGCCTTTCTGCCTCCCAGGAGCACCCTCCCCTGTAGGAGGGTGACAATTACGATGCTGCATTGCTCAGGGAGGTCCCTGCTACACATATGCAGGTGTGATTCTGAAGGTTCGAAAAAAAAAAAGGCTGTCACCATGGCAACCCAGGCTTGCTCAGCCTCTTCATTCCTGAGATCAGTCCAAGCCCCAGGGAAAGAAGGTGGGGTATGGAGTCAGAAAAATCACTGCCTGGCTGCCTGACCTCAGGCAAGACACTTAGCTTTTCTCTGTGTCAGTTTCTGCGTCTGTAAAATGGTGCTGAAGCTTTTCTTACTCACCTCCAGGACTGGGGTGGAATAATCGGTAAACCATAAAACACAGGAGGAGTAGGGCATCCTTAGTTTTGGCTTGTCCCCAGATTGCCATGTGACTTTGGGTAAATCACTTAACCTCTCTGTGTCTCAGGTGCTCTATTTATAAATAGGCGAGTAAGGCACACTGATTACTTCCCGGATATATTGCAAGGTGCCTGTGAGAATCCCAGAATCTCAAAGTTGGAAGGAATCTTAGCCCTTAGCACTCATGCAGGAATCTTTTTGATAAACTCTCTGACAGAGATACTTGCCTAGCCTCTGCCTGGTTACCTCCTGTGGCAAAAAACTCATGACCGCACAGCTTCCCATGTAGCCATTGCTACATGACACTAACCATAAGAAAGTTCTACCATATAGCGTATCATAGCATATTTTACAAATAAATGTTTGTTTTAAAAAAGTTAGCAATCCTTTCCAGAGCTATTTTCACTCCTGATTTTCCCAAAGGCTTGCACAGGGTAGAGATGAGCAGGGGTCAGCAAAAAGCAGGTGTGGGCTCGGCTGCAGAAGAAGCTTTTGGCTTAGTGTAATAGCAGGAGCCTGGGCTCTGGGGTCACACATCCTAGGTTGAAATGCTACTTTACCCACTTACAAACTGGCTGACGCTGACCCTGGGAAAGTTATATTACCTATCTGAGCCTCAGTTTCCTGATCAGTAAAAGGAAGATAGAAATACCTACCTCCCAGTATTGTTGTGGGAATTAAGCAAGTTAGCACTTCTTATTAAGCTTACAACCCAGACTTCCCTGGTGGGGTTCTGGGGACTTGGGGTGGGGAAGATTACACCCTCCTCTGCCACCCCCGAATAGCGCATCTGCCCACTGAGCAAATGGCACAGGCGAGCCTTACATAGTCCATATCTCAGGGTCATCTCCCTCTCAGACCTGGACCAGGGCCATAAAGGAAAGATGATGCAATGGTTTCAAGACAAAGTTCACCTCCTCCTCATGATTCACCGGCCCAAGGCCAGCACCCCTTCCCTGCCCACAGACTCAGTGGGCACCAAGCAAGTATCCCAGGGCGTCACTTAGGAACAACTTCCAACTGCACCAGTGTTTTAATAGGAATCTCATACAGGACCCCAAAAATGTCATCTGGCAGTGGACTTCCAGGCAGAGTGACAAGAAGTTAGGGAAAGCTATTGGGGGTTGGGCTAAAGTGTTCCTTTAGCTGTTGATATGAAGGTGTCTGTCACGTAATGACTCCTGGACAAAGGTCAGGATGCCTGGGTCCAGCTCCATCATTGCCTAGCTCTGGGCTCTCCGGAGCCAGCGACTTCCTTCCTCAATATCTTGCTTCCGTCATGTGCAAGACAGCAGGCCGATTCCTGGGGTTTTCCCAGCTTCCGAATTCTAGGTTTCCCCATTTGTTGGATTCAGAGATGAGTTGGAGAAACCACCCTAGACCTCCCTTGGCCCCTGGCCACTGGGTGGCACCGACCACCCCCTCTTCTCTGCTTCCTTTGCAGATGAGTATCTCAGAGTCCTCAACGTGGGTGTGGCCGAGGTGAAGAAATCCTTCCTGGGGCCCTTGTCCCCGTCCTGTAAGATGGTGCAGATGATGAGGCAGTTTCTGTACCGGGTCCTGCCCGAGGACTCCTACAAGGTCACCACGGGGAAGCTCCCTGTGAGCCTCACCCGCTTAACGGACGGGGAGAATGTGGTGGTTTCAGAGTTCACGTCCAAGGAGGAGCTCATTGAGGCAAGGGGGCTGGGCTGGGAGGGAGGGACACGGAGGGGGCGGGGGAGGGCGGCTCCTGCTCTTTCTCCACAGCTCAACCCGATGCCTTATCCACCTGCCTCACTTCCCTAGTCCTTCCCTTCCTTCATGCCCCCAGAGTCTCGCTGTGCAAGGTGCAGTGCTAGATGAGATGGACACAGAAGCCCAGGACGAACCAGGCTTGACCGCCACCCTCAATGCTTCGGCCTTCACATCCATCCTGCCCGGCCCCCTGCGCTAAGCCTGGAGCTTCCCAGAGGCCCAGGTGTGACTTGCAGAGGGCCTGGGTCTCCTTCAGGGCCTTCCAGGCTGGGCTGCCATGCATCCCCCCAGAATTACTCCCACTTTGTGGGAACGGTCAGGGGAGAGGGGCCCCCATGTCCCCTTTCTGCCCCCTCTCTTCCAGTGGCCCTTGATAAGGGATTGAATGGTTACCAAATCAGTTAACACTTAGAAAAGTGCACGCTAATCCTGAGTGCGCTGCCCTAAGCTCATTAATATTAATTTTAGTTATGAATAATGATTGCTGGAAAGGGCCGCAGGTAGGTCCCAGTGTCTTTCGGGACAAAGGGGTTAAGCTGTGTGGCCTCCTTCCCACATCTCCACTCTCCTTCCTTCCCCCACATACAGGGGCTTCGCCACTCCATCCTCATCCCATACTGGCCTGGCAGTAATCCTGGGGATGAGGGATGAATAGGCAGTGGGCACAGACACCACCTCCGTCCCTCAGGCCCCCTGGGTTTATCAGCAGCCAGCTCTTCCAGATCTGCCTCCTCACGCCCACCCCCGTTCTGACTTCACTGCCCACTGCTGCAGTTTTCTCTTCCCGGCCCTCTCCCCCACCTTCCACTCCTACCATGCCAACCCTAGCAAACCACACACAAGCCAGGCCTCTGGGTCTTTGCACCTGCCGCTCCCTCTGCCTGGGATCCCCTCCCTCCTTCCCACACTGCTTTGCCTGCTGCTGAAACCCAGTCCCTCCTGCCAGGGCACTTCCCTTCATCCCCTCCCACCCTGCCTGCACCCCTCTTGTGGAGCCACGGTGCCCATGCTCACCTCCACCATGCCCCTGTCACCCCACTGCACCGTCACCCACTTGCTCACTCCCTCTCATAGGGCACTCCCAAAGGTGGGCCTCTCAGCCTCCTTTGCTTCCAGGGCCTGGCCCAGGGCTGACACACATTAATGGTTGTTGAATCCCACTGGATTCATGAAAGTTCAGCATCAGAAGGAACCCCGAAGCTATGGAGGACCCCCTCCTGCTTTAAAGCTGGGACATCAGGGCCAGATGGACCAAGCAGGTTACCAAGGACCCAATTAGTGAAGGCCAGGCCAGGAACTGAACTCGGAGCTTTGCTTCCCAGTGTGGCACCTTCACCTAGAATTTAAGGAGGTCTGGGCTGGTGGTGGGTGGCCCAGGGGCTGACAGGTGAGCTGTCCCCACCCCACCCCCGGGCCTCCAGCATCTCAGCCCTGTTCTCTCCGCACAGGCCCTATACTGCAGCTGCTTCGTCCCGGTGTACTGTGGCCTCATCCCCCCGACTTACCGCGGTGTGGTGAGTGCTTCGGCATGGTGAGGGGTGAGATGGGATCCAAGGGACCTCGGGTCCCTGTGACTCACACCTGGGGGAGCAGGGGGGTGGTCTCAGAATGCAGCGGGAGGACCTAGAGTTGGAGAGTTTCTCATGTTGTTACTCAGAATTCCCAATGTAGGTGGCTTTCTGGGCCTTTAAGATGAACTTCTCCAGCTGGGGTGGGTTCCTCTCTGGACCCACCTACCCACTGCCAAGCCGGGCAAATCAAGGCTCCATAGGCTTGGCAGGTTTTCCCAGACTTGACAGAGCAGAGGAGATGAAGCACTGGGACCTGGAAACTCAAATGATGAGGATGTTTTCTGAGGCCTGTAGGCCAGGGCCTTACAGACTTTAATGTGCCCTTGAATCACTCGGGGTC
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Task1_train_10259
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Chromosome 6 houses a mutation in gene PNPLA1 (patatin like domain 1, omega-hydroxyceramide transacylase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Autosomal recessive congenital ichthyosis 10
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GTTTACCTCTGTTGGCACATGGTAAGGCTAACCTCACTAAAACCGTAGGGCCTTTCTGCCTCCCAGGAGCACCCTCCCCTGTAGGAGGGTGACAATTACGATGCTGCATTGCTCAGGGAGGTCCCTGCTACACATATGCAGGTGTGATTCTGAAGGTTCGAAAAAAAAAAAGGCTGTCACCATGGCAACCCAGGCTTGCTCAGCCTCTTCATTCCTGAGATCAGTCCAAGCCCCAGGGAAAGAAGGTGGGGTATGGAGTCAGAAAAATCACTGCCTGGCTGCCTGACCTCAGGCAAGACACTTAGCTTTTCTCTGTGTCAGTTTCTGCGTCTGTAAAATGGTGCTGAAGCTTTTCTTACTCACCTCCAGGACTGGGGTGGAATAATCGGTAAACCATAAAACACAGGAGGAGTAGGGCATCCTTAGTTTTGGCTTGTCCCCAGATTGCCATGTGACTTTGGGTAAATCACTTAACCTCTCTGTGTCTCAGGTGCTCTATTTATAAATAGGCGAGTAAGGCACACTGATTACTTCCCGGATATATTGCAAGGTGCCTGTGAGAATCCCAGAATCTCAAAGTTGGAAGGAATCTTAGCCCTTAGCACTCATGCAGGAATCTTTTTGATAAACTCTCTGACAGAGATACTTGCCTAGCCTCTGCCTGGTTACCTCCTGTGGCAAAAAACTCATGACCGCACAGCTTCCCATGTAGCCATTGCTACATGACACTAACCATAAGAAAGTTCTACCATATAGCGTATCATAGCATATTTTACAAATAAATGTTTGTTTTAAAAAAGTTAGCAATCCTTTCCAGAGCTATTTTCACTCCTGATTTTCCCAAAGGCTTGCACAGGGTAGAGATGAGCAGGGGTCAGCAAAAAGCAGGTGTGGGCTCGGCTGCAGAAGAAGCTTTTGGCTTAGTGTAATAGCAGGAGCCTGGGCTCTGGGGTCACACATCCTAGGTTGAAATGCTACTTTACCCACTTACAAACTGGCTGACGCTGACCCTGGGAAAGTTATATTACCTATCTGAGCCTCAGTTTCCTGATCAGTAAAAGGAAGATAGAAATACCTACCTCCCAGTATTGTTGTGGGAATTAAGCAAGTTAGCACTTCTTATTAAGCTTACAACCCAGACTTCCCTGGTGGGGTTCTGGGGACTTGGGGTGGGGAAGATTACACCCTCCTCTGCCACCCCCGAATAGCGCATCTGCCCACTGAGCAAATGGCACAGGCGAGCCTTACATAGTCCATATCTCAGGGTCATCTCCCTCTCAGACCTGGACCAGGGCCATAAAGGAAAGATGATGCAATGGTTTCAAGACAAAGTTCACCTCCTCCTCATGATTCACCGGCCCAAGGCCAGCACCCCTTCCCTGCCCACAGACTCAGTGGGCACCAAGCAAGTATCCCAGGGCGTCACTTAGGAACAACTTCCAACTGCACCAGTGTTTTAATAGGAATCTCATACAGGACCCCAAAAATGTCATCTGGCAGTGGACTTCCAGGCAGAGTGACAAGAAGTTAGGGAAAGCTATTGGGGGTTGGGCTAAAGTGTTCCTTTAGCTGTTGATATGAAGGTGTCTGTCACGTAATGACTCCTGGACAAAGGTCAGGATGCCTGGGTCCAGCTCCATCATTGCCTAGCTCTGGGCTCTCCGGAGCCAGCGACTTCCTTCCTCAATATCTTGCTTCCGTCATGTGCAAGACAGCAGGCCGATTCCTGGGGTTTTCCCAGCTTCCGAATTCTAGGTTTCCCCATTTGTTGGATTCAGAGATGAGTTGGAGAAACCACCCTAGACCTCCCTTGGCCCCTGGCCACTGGGTGGCACCGACCACCCCCTCTTCTCTGCTTCCTTTGCAGATGAGTATCTCAGAGTCCTCAACGTGGGTGTGGCCGAGGTGAAGAAATCCTTCCTGGGGCCCTTGTCCCCGTCCTGTAAGATGGTGCAGATGATGAGGCAGTTTCTGTACCGGGTCCTGCCCGAGGACTCCTACAAGGTCACCACGGGGAAGCTCCATGTGAGCCTCACCCGCTTAACGGACGGGGAGAATGTGGTGGTTTCAGAGTTCACGTCCAAGGAGGAGCTCATTGAGGCAAGGGGGCTGGGCTGGGAGGGAGGGACACGGAGGGGGCGGGGGAGGGCGGCTCCTGCTCTTTCTCCACAGCTCAACCCGATGCCTTATCCACCTGCCTCACTTCCCTAGTCCTTCCCTTCCTTCATGCCCCCAGAGTCTCGCTGTGCAAGGTGCAGTGCTAGATGAGATGGACACAGAAGCCCAGGACGAACCAGGCTTGACCGCCACCCTCAATGCTTCGGCCTTCACATCCATCCTGCCCGGCCCCCTGCGCTAAGCCTGGAGCTTCCCAGAGGCCCAGGTGTGACTTGCAGAGGGCCTGGGTCTCCTTCAGGGCCTTCCAGGCTGGGCTGCCATGCATCCCCCCAGAATTACTCCCACTTTGTGGGAACGGTCAGGGGAGAGGGGCCCCCATGTCCCCTTTCTGCCCCCTCTCTTCCAGTGGCCCTTGATAAGGGATTGAATGGTTACCAAATCAGTTAACACTTAGAAAAGTGCACGCTAATCCTGAGTGCGCTGCCCTAAGCTCATTAATATTAATTTTAGTTATGAATAATGATTGCTGGAAAGGGCCGCAGGTAGGTCCCAGTGTCTTTCGGGACAAAGGGGTTAAGCTGTGTGGCCTCCTTCCCACATCTCCACTCTCCTTCCTTCCCCCACATACAGGGGCTTCGCCACTCCATCCTCATCCCATACTGGCCTGGCAGTAATCCTGGGGATGAGGGATGAATAGGCAGTGGGCACAGACACCACCTCCGTCCCTCAGGCCCCCTGGGTTTATCAGCAGCCAGCTCTTCCAGATCTGCCTCCTCACGCCCACCCCCGTTCTGACTTCACTGCCCACTGCTGCAGTTTTCTCTTCCCGGCCCTCTCCCCCACCTTCCACTCCTACCATGCCAACCCTAGCAAACCACACACAAGCCAGGCCTCTGGGTCTTTGCACCTGCCGCTCCCTCTGCCTGGGATCCCCTCCCTCCTTCCCACACTGCTTTGCCTGCTGCTGAAACCCAGTCCCTCCTGCCAGGGCACTTCCCTTCATCCCCTCCCACCCTGCCTGCACCCCTCTTGTGGAGCCACGGTGCCCATGCTCACCTCCACCATGCCCCTGTCACCCCACTGCACCGTCACCCACTTGCTCACTCCCTCTCATAGGGCACTCCCAAAGGTGGGCCTCTCAGCCTCCTTTGCTTCCAGGGCCTGGCCCAGGGCTGACACACATTAATGGTTGTTGAATCCCACTGGATTCATGAAAGTTCAGCATCAGAAGGAACCCCGAAGCTATGGAGGACCCCCTCCTGCTTTAAAGCTGGGACATCAGGGCCAGATGGACCAAGCAGGTTACCAAGGACCCAATTAGTGAAGGCCAGGCCAGGAACTGAACTCGGAGCTTTGCTTCCCAGTGTGGCACCTTCACCTAGAATTTAAGGAGGTCTGGGCTGGTGGTGGGTGGCCCAGGGGCTGACAGGTGAGCTGTCCCCACCCCACCCCCGGGCCTCCAGCATCTCAGCCCTGTTCTCTCCGCACAGGCCCTATACTGCAGCTGCTTCGTCCCGGTGTACTGTGGCCTCATCCCCCCGACTTACCGCGGTGTGGTGAGTGCTTCGGCATGGTGAGGGGTGAGATGGGATCCAAGGGACCTCGGGTCCCTGTGACTCACACCTGGGGGAGCAGGGGGGTGGTCTCAGAATGCAGCGGGAGGACCTAGAGTTGGAGAGTTTCTCATGTTGTTACTCAGAATTCCCAATGTAGGTGGCTTTCTGGGCCTTTAAGATGAACTTCTCCAGCTGGGGTGGGTTCCTCTCTGGACCCACCTACCCACTGCCAAGCCGGGCAAATCAAGGCTCCATAGGCTTGGCAGGTTTTCCCAGACTTGACAGAGCAGAGGAGATGAAGCACTGGGACCTGGAAACTCAAATGATGAGGATGTTTTCTGAGGCCTGTAGGCCAGGGCCTTACAGACTTTAATGTGCCCTTGAATCACTCGGGGTCTCGTAAAATTATGCAAGTTCTGATC
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GTTTACCTCTGTTGGCACATGGTAAGGCTAACCTCACTAAAACCGTAGGGCCTTTCTGCCTCCCAGGAGCACCCTCCCCTGTAGGAGGGTGACAATTACGATGCTGCATTGCTCAGGGAGGTCCCTGCTACACATATGCAGGTGTGATTCTGAAGGTTCGAAAAAAAAAAAGGCTGTCACCATGGCAACCCAGGCTTGCTCAGCCTCTTCATTCCTGAGATCAGTCCAAGCCCCAGGGAAAGAAGGTGGGGTATGGAGTCAGAAAAATCACTGCCTGGCTGCCTGACCTCAGGCAAGACACTTAGCTTTTCTCTGTGTCAGTTTCTGCGTCTGTAAAATGGTGCTGAAGCTTTTCTTACTCACCTCCAGGACTGGGGTGGAATAATCGGTAAACCATAAAACACAGGAGGAGTAGGGCATCCTTAGTTTTGGCTTGTCCCCAGATTGCCATGTGACTTTGGGTAAATCACTTAACCTCTCTGTGTCTCAGGTGCTCTATTTATAAATAGGCGAGTAAGGCACACTGATTACTTCCCGGATATATTGCAAGGTGCCTGTGAGAATCCCAGAATCTCAAAGTTGGAAGGAATCTTAGCCCTTAGCACTCATGCAGGAATCTTTTTGATAAACTCTCTGACAGAGATACTTGCCTAGCCTCTGCCTGGTTACCTCCTGTGGCAAAAAACTCATGACCGCACAGCTTCCCATGTAGCCATTGCTACATGACACTAACCATAAGAAAGTTCTACCATATAGCGTATCATAGCATATTTTACAAATAAATGTTTGTTTTAAAAAAGTTAGCAATCCTTTCCAGAGCTATTTTCACTCCTGATTTTCCCAAAGGCTTGCACAGGGTAGAGATGAGCAGGGGTCAGCAAAAAGCAGGTGTGGGCTCGGCTGCAGAAGAAGCTTTTGGCTTAGTGTAATAGCAGGAGCCTGGGCTCTGGGGTCACACATCCTAGGTTGAAATGCTACTTTACCCACTTACAAACTGGCTGACGCTGACCCTGGGAAAGTTATATTACCTATCTGAGCCTCAGTTTCCTGATCAGTAAAAGGAAGATAGAAATACCTACCTCCCAGTATTGTTGTGGGAATTAAGCAAGTTAGCACTTCTTATTAAGCTTACAACCCAGACTTCCCTGGTGGGGTTCTGGGGACTTGGGGTGGGGAAGATTACACCCTCCTCTGCCACCCCCGAATAGCGCATCTGCCCACTGAGCAAATGGCACAGGCGAGCCTTACATAGTCCATATCTCAGGGTCATCTCCCTCTCAGACCTGGACCAGGGCCATAAAGGAAAGATGATGCAATGGTTTCAAGACAAAGTTCACCTCCTCCTCATGATTCACCGGCCCAAGGCCAGCACCCCTTCCCTGCCCACAGACTCAGTGGGCACCAAGCAAGTATCCCAGGGCGTCACTTAGGAACAACTTCCAACTGCACCAGTGTTTTAATAGGAATCTCATACAGGACCCCAAAAATGTCATCTGGCAGTGGACTTCCAGGCAGAGTGACAAGAAGTTAGGGAAAGCTATTGGGGGTTGGGCTAAAGTGTTCCTTTAGCTGTTGATATGAAGGTGTCTGTCACGTAATGACTCCTGGACAAAGGTCAGGATGCCTGGGTCCAGCTCCATCATTGCCTAGCTCTGGGCTCTCCGGAGCCAGCGACTTCCTTCCTCAATATCTTGCTTCCGTCATGTGCAAGACAGCAGGCCGATTCCTGGGGTTTTCCCAGCTTCCGAATTCTAGGTTTCCCCATTTGTTGGATTCAGAGATGAGTTGGAGAAACCACCCTAGACCTCCCTTGGCCCCTGGCCACTGGGTGGCACCGACCACCCCCTCTTCTCTGCTTCCTTTGCAGATGAGTATCTCAGAGTCCTCAACGTGGGTGTGGCCGAGGTGAAGAAATCCTTCCTGGGGCCCTTGTCCCCGTCCTGTAAGATGGTGCAGATGATGAGGCAGTTTCTGTACCGGGTCCTGCCCGAGGACTCCTACAAGGTCACCACGGGGAAGCTCCATGTGAGCCTCACCCGCTTAACGGAAGGGGAGAATGTGGTGGTTTCAGAGTTCACGTCCAAGGAGGAGCTCATTGAGGCAAGGGGGCTGGGCTGGGAGGGAGGGACACGGAGGGGGCGGGGGAGGGCGGCTCCTGCTCTTTCTCCACAGCTCAACCCGATGCCTTATCCACCTGCCTCACTTCCCTAGTCCTTCCCTTCCTTCATGCCCCCAGAGTCTCGCTGTGCAAGGTGCAGTGCTAGATGAGATGGACACAGAAGCCCAGGACGAACCAGGCTTGACCGCCACCCTCAATGCTTCGGCCTTCACATCCATCCTGCCCGGCCCCCTGCGCTAAGCCTGGAGCTTCCCAGAGGCCCAGGTGTGACTTGCAGAGGGCCTGGGTCTCCTTCAGGGCCTTCCAGGCTGGGCTGCCATGCATCCCCCCAGAATTACTCCCACTTTGTGGGAACGGTCAGGGGAGAGGGGCCCCCATGTCCCCTTTCTGCCCCCTCTCTTCCAGTGGCCCTTGATAAGGGATTGAATGGTTACCAAATCAGTTAACACTTAGAAAAGTGCACGCTAATCCTGAGTGCGCTGCCCTAAGCTCATTAATATTAATTTTAGTTATGAATAATGATTGCTGGAAAGGGCCGCAGGTAGGTCCCAGTGTCTTTCGGGACAAAGGGGTTAAGCTGTGTGGCCTCCTTCCCACATCTCCACTCTCCTTCCTTCCCCCACATACAGGGGCTTCGCCACTCCATCCTCATCCCATACTGGCCTGGCAGTAATCCTGGGGATGAGGGATGAATAGGCAGTGGGCACAGACACCACCTCCGTCCCTCAGGCCCCCTGGGTTTATCAGCAGCCAGCTCTTCCAGATCTGCCTCCTCACGCCCACCCCCGTTCTGACTTCACTGCCCACTGCTGCAGTTTTCTCTTCCCGGCCCTCTCCCCCACCTTCCACTCCTACCATGCCAACCCTAGCAAACCACACACAAGCCAGGCCTCTGGGTCTTTGCACCTGCCGCTCCCTCTGCCTGGGATCCCCTCCCTCCTTCCCACACTGCTTTGCCTGCTGCTGAAACCCAGTCCCTCCTGCCAGGGCACTTCCCTTCATCCCCTCCCACCCTGCCTGCACCCCTCTTGTGGAGCCACGGTGCCCATGCTCACCTCCACCATGCCCCTGTCACCCCACTGCACCGTCACCCACTTGCTCACTCCCTCTCATAGGGCACTCCCAAAGGTGGGCCTCTCAGCCTCCTTTGCTTCCAGGGCCTGGCCCAGGGCTGACACACATTAATGGTTGTTGAATCCCACTGGATTCATGAAAGTTCAGCATCAGAAGGAACCCCGAAGCTATGGAGGACCCCCTCCTGCTTTAAAGCTGGGACATCAGGGCCAGATGGACCAAGCAGGTTACCAAGGACCCAATTAGTGAAGGCCAGGCCAGGAACTGAACTCGGAGCTTTGCTTCCCAGTGTGGCACCTTCACCTAGAATTTAAGGAGGTCTGGGCTGGTGGTGGGTGGCCCAGGGGCTGACAGGTGAGCTGTCCCCACCCCACCCCCGGGCCTCCAGCATCTCAGCCCTGTTCTCTCCGCACAGGCCCTATACTGCAGCTGCTTCGTCCCGGTGTACTGTGGCCTCATCCCCCCGACTTACCGCGGTGTGGTGAGTGCTTCGGCATGGTGAGGGGTGAGATGGGATCCAAGGGACCTCGGGTCCCTGTGACTCACACCTGGGGGAGCAGGGGGGTGGTCTCAGAATGCAGCGGGAGGACCTAGAGTTGGAGAGTTTCTCATGTTGTTACTCAGAATTCCCAATGTAGGTGGCTTTCTGGGCCTTTAAGATGAACTTCTCCAGCTGGGGTGGGTTCCTCTCTGGACCCACCTACCCACTGCCAAGCCGGGCAAATCAAGGCTCCATAGGCTTGGCAGGTTTTCCCAGACTTGACAGAGCAGAGGAGATGAAGCACTGGGACCTGGAAACTCAAATGATGAGGATGTTTTCTGAGGCCTGTAGGCCAGGGCCTTACAGACTTTAATGTGCCCTTGAATCACTCGGGGTCTCGTAAAATTATGCAAGTTCTGATC
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Task1_train_10260
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Gene PNPLA1 (patatin like domain 1, omega-hydroxyceramide transacylase) on Chromosome 6 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Autosomal recessive congenital ichthyosis 10
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CACTAAAACCGTAGGGCCTTTCTGCCTCCCAGGAGCACCCTCCCCTGTAGGAGGGTGACAATTACGATGCTGCATTGCTCAGGGAGGTCCCTGCTACACATATGCAGGTGTGATTCTGAAGGTTCGAAAAAAAAAAAGGCTGTCACCATGGCAACCCAGGCTTGCTCAGCCTCTTCATTCCTGAGATCAGTCCAAGCCCCAGGGAAAGAAGGTGGGGTATGGAGTCAGAAAAATCACTGCCTGGCTGCCTGACCTCAGGCAAGACACTTAGCTTTTCTCTGTGTCAGTTTCTGCGTCTGTAAAATGGTGCTGAAGCTTTTCTTACTCACCTCCAGGACTGGGGTGGAATAATCGGTAAACCATAAAACACAGGAGGAGTAGGGCATCCTTAGTTTTGGCTTGTCCCCAGATTGCCATGTGACTTTGGGTAAATCACTTAACCTCTCTGTGTCTCAGGTGCTCTATTTATAAATAGGCGAGTAAGGCACACTGATTACTTCCCGGATATATTGCAAGGTGCCTGTGAGAATCCCAGAATCTCAAAGTTGGAAGGAATCTTAGCCCTTAGCACTCATGCAGGAATCTTTTTGATAAACTCTCTGACAGAGATACTTGCCTAGCCTCTGCCTGGTTACCTCCTGTGGCAAAAAACTCATGACCGCACAGCTTCCCATGTAGCCATTGCTACATGACACTAACCATAAGAAAGTTCTACCATATAGCGTATCATAGCATATTTTACAAATAAATGTTTGTTTTAAAAAAGTTAGCAATCCTTTCCAGAGCTATTTTCACTCCTGATTTTCCCAAAGGCTTGCACAGGGTAGAGATGAGCAGGGGTCAGCAAAAAGCAGGTGTGGGCTCGGCTGCAGAAGAAGCTTTTGGCTTAGTGTAATAGCAGGAGCCTGGGCTCTGGGGTCACACATCCTAGGTTGAAATGCTACTTTACCCACTTACAAACTGGCTGACGCTGACCCTGGGAAAGTTATATTACCTATCTGAGCCTCAGTTTCCTGATCAGTAAAAGGAAGATAGAAATACCTACCTCCCAGTATTGTTGTGGGAATTAAGCAAGTTAGCACTTCTTATTAAGCTTACAACCCAGACTTCCCTGGTGGGGTTCTGGGGACTTGGGGTGGGGAAGATTACACCCTCCTCTGCCACCCCCGAATAGCGCATCTGCCCACTGAGCAAATGGCACAGGCGAGCCTTACATAGTCCATATCTCAGGGTCATCTCCCTCTCAGACCTGGACCAGGGCCATAAAGGAAAGATGATGCAATGGTTTCAAGACAAAGTTCACCTCCTCCTCATGATTCACCGGCCCAAGGCCAGCACCCCTTCCCTGCCCACAGACTCAGTGGGCACCAAGCAAGTATCCCAGGGCGTCACTTAGGAACAACTTCCAACTGCACCAGTGTTTTAATAGGAATCTCATACAGGACCCCAAAAATGTCATCTGGCAGTGGACTTCCAGGCAGAGTGACAAGAAGTTAGGGAAAGCTATTGGGGGTTGGGCTAAAGTGTTCCTTTAGCTGTTGATATGAAGGTGTCTGTCACGTAATGACTCCTGGACAAAGGTCAGGATGCCTGGGTCCAGCTCCATCATTGCCTAGCTCTGGGCTCTCCGGAGCCAGCGACTTCCTTCCTCAATATCTTGCTTCCGTCATGTGCAAGACAGCAGGCCGATTCCTGGGGTTTTCCCAGCTTCCGAATTCTAGGTTTCCCCATTTGTTGGATTCAGAGATGAGTTGGAGAAACCACCCTAGACCTCCCTTGGCCCCTGGCCACTGGGTGGCACCGACCACCCCCTCTTCTCTGCTTCCTTTGCAGATGAGTATCTCAGAGTCCTCAACGTGGGTGTGGCCGAGGTGAAGAAATCCTTCCTGGGGCCCTTGTCCCCGTCCTGTAAGATGGTGCAGATGATGAGGCAGTTTCTGTACCGGGTCCTGCCCGAGGACTCCTACAAGGTCACCACGGGGAAGCTCCATGTGAGCCTCACCCGCTTAACGGACGGGGAGAATGTGGTGGTTTCAGAGTTCACGTCCAAGGAGGAGCTCATTGAGGCAAGGGGGCTGGGCTGGGAGGGAGGGACACGGAGGGGGCGGGGGAGGGCGGCTCCTGCTCTTTCTCCACAGCTCAACCCGATGCCTTATCCACCTGCCTCACTTCCCTAGTCCTTCCCTTCCTTCATGCCCCCAGAGTCTCGCTGTGCAAGGTGCAGTGCTAGATGAGATGGACACAGAAGCCCAGGACGAACCAGGCTTGACCGCCACCCTCAATGCTTCGGCCTTCACATCCATCCTGCCCGGCCCCCTGCGCTAAGCCTGGAGCTTCCCAGAGGCCCAGGTGTGACTTGCAGAGGGCCTGGGTCTCCTTCAGGGCCTTCCAGGCTGGGCTGCCATGCATCCCCCCAGAATTACTCCCACTTTGTGGGAACGGTCAGGGGAGAGGGGCCCCCATGTCCCCTTTCTGCCCCCTCTCTTCCAGTGGCCCTTGATAAGGGATTGAATGGTTACCAAATCAGTTAACACTTAGAAAAGTGCACGCTAATCCTGAGTGCGCTGCCCTAAGCTCATTAATATTAATTTTAGTTATGAATAATGATTGCTGGAAAGGGCCGCAGGTAGGTCCCAGTGTCTTTCGGGACAAAGGGGTTAAGCTGTGTGGCCTCCTTCCCACATCTCCACTCTCCTTCCTTCCCCCACATACAGGGGCTTCGCCACTCCATCCTCATCCCATACTGGCCTGGCAGTAATCCTGGGGATGAGGGATGAATAGGCAGTGGGCACAGACACCACCTCCGTCCCTCAGGCCCCCTGGGTTTATCAGCAGCCAGCTCTTCCAGATCTGCCTCCTCACGCCCACCCCCGTTCTGACTTCACTGCCCACTGCTGCAGTTTTCTCTTCCCGGCCCTCTCCCCCACCTTCCACTCCTACCATGCCAACCCTAGCAAACCACACACAAGCCAGGCCTCTGGGTCTTTGCACCTGCCGCTCCCTCTGCCTGGGATCCCCTCCCTCCTTCCCACACTGCTTTGCCTGCTGCTGAAACCCAGTCCCTCCTGCCAGGGCACTTCCCTTCATCCCCTCCCACCCTGCCTGCACCCCTCTTGTGGAGCCACGGTGCCCATGCTCACCTCCACCATGCCCCTGTCACCCCACTGCACCGTCACCCACTTGCTCACTCCCTCTCATAGGGCACTCCCAAAGGTGGGCCTCTCAGCCTCCTTTGCTTCCAGGGCCTGGCCCAGGGCTGACACACATTAATGGTTGTTGAATCCCACTGGATTCATGAAAGTTCAGCATCAGAAGGAACCCCGAAGCTATGGAGGACCCCCTCCTGCTTTAAAGCTGGGACATCAGGGCCAGATGGACCAAGCAGGTTACCAAGGACCCAATTAGTGAAGGCCAGGCCAGGAACTGAACTCGGAGCTTTGCTTCCCAGTGTGGCACCTTCACCTAGAATTTAAGGAGGTCTGGGCTGGTGGTGGGTGGCCCAGGGGCTGACAGGTGAGCTGTCCCCACCCCACCCCCGGGCCTCCAGCATCTCAGCCCTGTTCTCTCCGCACAGGCCCTATACTGCAGCTGCTTCGTCCCGGTGTACTGTGGCCTCATCCCCCCGACTTACCGCGGTGTGGTGAGTGCTTCGGCATGGTGAGGGGTGAGATGGGATCCAAGGGACCTCGGGTCCCTGTGACTCACACCTGGGGGAGCAGGGGGGTGGTCTCAGAATGCAGCGGGAGGACCTAGAGTTGGAGAGTTTCTCATGTTGTTACTCAGAATTCCCAATGTAGGTGGCTTTCTGGGCCTTTAAGATGAACTTCTCCAGCTGGGGTGGGTTCCTCTCTGGACCCACCTACCCACTGCCAAGCCGGGCAAATCAAGGCTCCATAGGCTTGGCAGGTTTTCCCAGACTTGACAGAGCAGAGGAGATGAAGCACTGGGACCTGGAAACTCAAATGATGAGGATGTTTTCTGAGGCCTGTAGGCCAGGGCCTTACAGACTTTAATGTGCCCTTGAATCACTCGGGGTCTCGTAAAATTATGCAAGTTCTGATCCAGGCGGTCTGAGGCAGTGCCTGAGGGTCTGCGC
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CACTAAAACCGTAGGGCCTTTCTGCCTCCCAGGAGCACCCTCCCCTGTAGGAGGGTGACAATTACGATGCTGCATTGCTCAGGGAGGTCCCTGCTACACATATGCAGGTGTGATTCTGAAGGTTCGAAAAAAAAAAAGGCTGTCACCATGGCAACCCAGGCTTGCTCAGCCTCTTCATTCCTGAGATCAGTCCAAGCCCCAGGGAAAGAAGGTGGGGTATGGAGTCAGAAAAATCACTGCCTGGCTGCCTGACCTCAGGCAAGACACTTAGCTTTTCTCTGTGTCAGTTTCTGCGTCTGTAAAATGGTGCTGAAGCTTTTCTTACTCACCTCCAGGACTGGGGTGGAATAATCGGTAAACCATAAAACACAGGAGGAGTAGGGCATCCTTAGTTTTGGCTTGTCCCCAGATTGCCATGTGACTTTGGGTAAATCACTTAACCTCTCTGTGTCTCAGGTGCTCTATTTATAAATAGGCGAGTAAGGCACACTGATTACTTCCCGGATATATTGCAAGGTGCCTGTGAGAATCCCAGAATCTCAAAGTTGGAAGGAATCTTAGCCCTTAGCACTCATGCAGGAATCTTTTTGATAAACTCTCTGACAGAGATACTTGCCTAGCCTCTGCCTGGTTACCTCCTGTGGCAAAAAACTCATGACCGCACAGCTTCCCATGTAGCCATTGCTACATGACACTAACCATAAGAAAGTTCTACCATATAGCGTATCATAGCATATTTTACAAATAAATGTTTGTTTTAAAAAAGTTAGCAATCCTTTCCAGAGCTATTTTCACTCCTGATTTTCCCAAAGGCTTGCACAGGGTAGAGATGAGCAGGGGTCAGCAAAAAGCAGGTGTGGGCTCGGCTGCAGAAGAAGCTTTTGGCTTAGTGTAATAGCAGGAGCCTGGGCTCTGGGGTCACACATCCTAGGTTGAAATGCTACTTTACCCACTTACAAACTGGCTGACGCTGACCCTGGGAAAGTTATATTACCTATCTGAGCCTCAGTTTCCTGATCAGTAAAAGGAAGATAGAAATACCTACCTCCCAGTATTGTTGTGGGAATTAAGCAAGTTAGCACTTCTTATTAAGCTTACAACCCAGACTTCCCTGGTGGGGTTCTGGGGACTTGGGGTGGGGAAGATTACACCCTCCTCTGCCACCCCCGAATAGCGCATCTGCCCACTGAGCAAATGGCACAGGCGAGCCTTACATAGTCCATATCTCAGGGTCATCTCCCTCTCAGACCTGGACCAGGGCCATAAAGGAAAGATGATGCAATGGTTTCAAGACAAAGTTCACCTCCTCCTCATGATTCACCGGCCCAAGGCCAGCACCCCTTCCCTGCCCACAGACTCAGTGGGCACCAAGCAAGTATCCCAGGGCGTCACTTAGGAACAACTTCCAACTGCACCAGTGTTTTAATAGGAATCTCATACAGGACCCCAAAAATGTCATCTGGCAGTGGACTTCCAGGCAGAGTGACAAGAAGTTAGGGAAAGCTATTGGGGGTTGGGCTAAAGTGTTCCTTTAGCTGTTGATATGAAGGTGTCTGTCACGTAATGACTCCTGGACAAAGGTCAGGATGCCTGGGTCCAGCTCCATCATTGCCTAGCTCTGGGCTCTCCGGAGCCAGCGACTTCCTTCCTCAATATCTTGCTTCCGTCATGTGCAAGACAGCAGGCCGATTCCTGGGGTTTTCCCAGCTTCCGAATTCTAGGTTTCCCCATTTGTTGGATTCAGAGATGAGTTGGAGAAACCACCCTAGACCTCCCTTGGCCCCTGGCCACTGGGTGGCACCGACCACCCCCTCTTCTCTGCTTCCTTTGCAGATGAGTATCTCAGAGTCCTCAACGTGGGTGTGGCCGAGGTGAAGAAATCCTTCCTGGGGCCCTTGTCCCCGTCCTGTAAGATGGTGCAGATGATGAGGCAGTTTCTGTACCGGGTCCTGCCCGAGGACTCCTACAAGGTCACCACGGGGAAGCTCCATGTGAGCCTCACCCGCTTAACGGACGGGGAGAATGTGGTGGTTTCAGAGTTCACGTCCGAGGAGGAGCTCATTGAGGCAAGGGGGCTGGGCTGGGAGGGAGGGACACGGAGGGGGCGGGGGAGGGCGGCTCCTGCTCTTTCTCCACAGCTCAACCCGATGCCTTATCCACCTGCCTCACTTCCCTAGTCCTTCCCTTCCTTCATGCCCCCAGAGTCTCGCTGTGCAAGGTGCAGTGCTAGATGAGATGGACACAGAAGCCCAGGACGAACCAGGCTTGACCGCCACCCTCAATGCTTCGGCCTTCACATCCATCCTGCCCGGCCCCCTGCGCTAAGCCTGGAGCTTCCCAGAGGCCCAGGTGTGACTTGCAGAGGGCCTGGGTCTCCTTCAGGGCCTTCCAGGCTGGGCTGCCATGCATCCCCCCAGAATTACTCCCACTTTGTGGGAACGGTCAGGGGAGAGGGGCCCCCATGTCCCCTTTCTGCCCCCTCTCTTCCAGTGGCCCTTGATAAGGGATTGAATGGTTACCAAATCAGTTAACACTTAGAAAAGTGCACGCTAATCCTGAGTGCGCTGCCCTAAGCTCATTAATATTAATTTTAGTTATGAATAATGATTGCTGGAAAGGGCCGCAGGTAGGTCCCAGTGTCTTTCGGGACAAAGGGGTTAAGCTGTGTGGCCTCCTTCCCACATCTCCACTCTCCTTCCTTCCCCCACATACAGGGGCTTCGCCACTCCATCCTCATCCCATACTGGCCTGGCAGTAATCCTGGGGATGAGGGATGAATAGGCAGTGGGCACAGACACCACCTCCGTCCCTCAGGCCCCCTGGGTTTATCAGCAGCCAGCTCTTCCAGATCTGCCTCCTCACGCCCACCCCCGTTCTGACTTCACTGCCCACTGCTGCAGTTTTCTCTTCCCGGCCCTCTCCCCCACCTTCCACTCCTACCATGCCAACCCTAGCAAACCACACACAAGCCAGGCCTCTGGGTCTTTGCACCTGCCGCTCCCTCTGCCTGGGATCCCCTCCCTCCTTCCCACACTGCTTTGCCTGCTGCTGAAACCCAGTCCCTCCTGCCAGGGCACTTCCCTTCATCCCCTCCCACCCTGCCTGCACCCCTCTTGTGGAGCCACGGTGCCCATGCTCACCTCCACCATGCCCCTGTCACCCCACTGCACCGTCACCCACTTGCTCACTCCCTCTCATAGGGCACTCCCAAAGGTGGGCCTCTCAGCCTCCTTTGCTTCCAGGGCCTGGCCCAGGGCTGACACACATTAATGGTTGTTGAATCCCACTGGATTCATGAAAGTTCAGCATCAGAAGGAACCCCGAAGCTATGGAGGACCCCCTCCTGCTTTAAAGCTGGGACATCAGGGCCAGATGGACCAAGCAGGTTACCAAGGACCCAATTAGTGAAGGCCAGGCCAGGAACTGAACTCGGAGCTTTGCTTCCCAGTGTGGCACCTTCACCTAGAATTTAAGGAGGTCTGGGCTGGTGGTGGGTGGCCCAGGGGCTGACAGGTGAGCTGTCCCCACCCCACCCCCGGGCCTCCAGCATCTCAGCCCTGTTCTCTCCGCACAGGCCCTATACTGCAGCTGCTTCGTCCCGGTGTACTGTGGCCTCATCCCCCCGACTTACCGCGGTGTGGTGAGTGCTTCGGCATGGTGAGGGGTGAGATGGGATCCAAGGGACCTCGGGTCCCTGTGACTCACACCTGGGGGAGCAGGGGGGTGGTCTCAGAATGCAGCGGGAGGACCTAGAGTTGGAGAGTTTCTCATGTTGTTACTCAGAATTCCCAATGTAGGTGGCTTTCTGGGCCTTTAAGATGAACTTCTCCAGCTGGGGTGGGTTCCTCTCTGGACCCACCTACCCACTGCCAAGCCGGGCAAATCAAGGCTCCATAGGCTTGGCAGGTTTTCCCAGACTTGACAGAGCAGAGGAGATGAAGCACTGGGACCTGGAAACTCAAATGATGAGGATGTTTTCTGAGGCCTGTAGGCCAGGGCCTTACAGACTTTAATGTGCCCTTGAATCACTCGGGGTCTCGTAAAATTATGCAAGTTCTGATCCAGGCGGTCTGAGGCAGTGCCTGAGGGTCTGCGC
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Task1_train_10261
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A sequence alteration has been identified in PNPLA1 (patatin like domain 1, omega-hydroxyceramide transacylase) on Chromosome 6. Is it disease-inducing or harmless?
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Pathogenic; Congenital ichthyosiform erythroderma
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CACTAAAACCGTAGGGCCTTTCTGCCTCCCAGGAGCACCCTCCCCTGTAGGAGGGTGACAATTACGATGCTGCATTGCTCAGGGAGGTCCCTGCTACACATATGCAGGTGTGATTCTGAAGGTTCGAAAAAAAAAAAGGCTGTCACCATGGCAACCCAGGCTTGCTCAGCCTCTTCATTCCTGAGATCAGTCCAAGCCCCAGGGAAAGAAGGTGGGGTATGGAGTCAGAAAAATCACTGCCTGGCTGCCTGACCTCAGGCAAGACACTTAGCTTTTCTCTGTGTCAGTTTCTGCGTCTGTAAAATGGTGCTGAAGCTTTTCTTACTCACCTCCAGGACTGGGGTGGAATAATCGGTAAACCATAAAACACAGGAGGAGTAGGGCATCCTTAGTTTTGGCTTGTCCCCAGATTGCCATGTGACTTTGGGTAAATCACTTAACCTCTCTGTGTCTCAGGTGCTCTATTTATAAATAGGCGAGTAAGGCACACTGATTACTTCCCGGATATATTGCAAGGTGCCTGTGAGAATCCCAGAATCTCAAAGTTGGAAGGAATCTTAGCCCTTAGCACTCATGCAGGAATCTTTTTGATAAACTCTCTGACAGAGATACTTGCCTAGCCTCTGCCTGGTTACCTCCTGTGGCAAAAAACTCATGACCGCACAGCTTCCCATGTAGCCATTGCTACATGACACTAACCATAAGAAAGTTCTACCATATAGCGTATCATAGCATATTTTACAAATAAATGTTTGTTTTAAAAAAGTTAGCAATCCTTTCCAGAGCTATTTTCACTCCTGATTTTCCCAAAGGCTTGCACAGGGTAGAGATGAGCAGGGGTCAGCAAAAAGCAGGTGTGGGCTCGGCTGCAGAAGAAGCTTTTGGCTTAGTGTAATAGCAGGAGCCTGGGCTCTGGGGTCACACATCCTAGGTTGAAATGCTACTTTACCCACTTACAAACTGGCTGACGCTGACCCTGGGAAAGTTATATTACCTATCTGAGCCTCAGTTTCCTGATCAGTAAAAGGAAGATAGAAATACCTACCTCCCAGTATTGTTGTGGGAATTAAGCAAGTTAGCACTTCTTATTAAGCTTACAACCCAGACTTCCCTGGTGGGGTTCTGGGGACTTGGGGTGGGGAAGATTACACCCTCCTCTGCCACCCCCGAATAGCGCATCTGCCCACTGAGCAAATGGCACAGGCGAGCCTTACATAGTCCATATCTCAGGGTCATCTCCCTCTCAGACCTGGACCAGGGCCATAAAGGAAAGATGATGCAATGGTTTCAAGACAAAGTTCACCTCCTCCTCATGATTCACCGGCCCAAGGCCAGCACCCCTTCCCTGCCCACAGACTCAGTGGGCACCAAGCAAGTATCCCAGGGCGTCACTTAGGAACAACTTCCAACTGCACCAGTGTTTTAATAGGAATCTCATACAGGACCCCAAAAATGTCATCTGGCAGTGGACTTCCAGGCAGAGTGACAAGAAGTTAGGGAAAGCTATTGGGGGTTGGGCTAAAGTGTTCCTTTAGCTGTTGATATGAAGGTGTCTGTCACGTAATGACTCCTGGACAAAGGTCAGGATGCCTGGGTCCAGCTCCATCATTGCCTAGCTCTGGGCTCTCCGGAGCCAGCGACTTCCTTCCTCAATATCTTGCTTCCGTCATGTGCAAGACAGCAGGCCGATTCCTGGGGTTTTCCCAGCTTCCGAATTCTAGGTTTCCCCATTTGTTGGATTCAGAGATGAGTTGGAGAAACCACCCTAGACCTCCCTTGGCCCCTGGCCACTGGGTGGCACCGACCACCCCCTCTTCTCTGCTTCCTTTGCAGATGAGTATCTCAGAGTCCTCAACGTGGGTGTGGCCGAGGTGAAGAAATCCTTCCTGGGGCCCTTGTCCCCGTCCTGTAAGATGGTGCAGATGATGAGGCAGTTTCTGTACCGGGTCCTGCCCGAGGACTCCTACAAGGTCACCACGGGGAAGCTCCATGTGAGCCTCACCCGCTTAACGGACGGGGAGAATGTGGTGGTTTCAGAGTTCACGTCCAAGGAGGAGCTCATTGAGGCAAGGGGGCTGGGCTGGGAGGGAGGGACACGGAGGGGGCGGGGGAGGGCGGCTCCTGCTCTTTCTCCACAGCTCAACCCGATGCCTTATCCACCTGCCTCACTTCCCTAGTCCTTCCCTTCCTTCATGCCCCCAGAGTCTCGCTGTGCAAGGTGCAGTGCTAGATGAGATGGACACAGAAGCCCAGGACGAACCAGGCTTGACCGCCACCCTCAATGCTTCGGCCTTCACATCCATCCTGCCCGGCCCCCTGCGCTAAGCCTGGAGCTTCCCAGAGGCCCAGGTGTGACTTGCAGAGGGCCTGGGTCTCCTTCAGGGCCTTCCAGGCTGGGCTGCCATGCATCCCCCCAGAATTACTCCCACTTTGTGGGAACGGTCAGGGGAGAGGGGCCCCCATGTCCCCTTTCTGCCCCCTCTCTTCCAGTGGCCCTTGATAAGGGATTGAATGGTTACCAAATCAGTTAACACTTAGAAAAGTGCACGCTAATCCTGAGTGCGCTGCCCTAAGCTCATTAATATTAATTTTAGTTATGAATAATGATTGCTGGAAAGGGCCGCAGGTAGGTCCCAGTGTCTTTCGGGACAAAGGGGTTAAGCTGTGTGGCCTCCTTCCCACATCTCCACTCTCCTTCCTTCCCCCACATACAGGGGCTTCGCCACTCCATCCTCATCCCATACTGGCCTGGCAGTAATCCTGGGGATGAGGGATGAATAGGCAGTGGGCACAGACACCACCTCCGTCCCTCAGGCCCCCTGGGTTTATCAGCAGCCAGCTCTTCCAGATCTGCCTCCTCACGCCCACCCCCGTTCTGACTTCACTGCCCACTGCTGCAGTTTTCTCTTCCCGGCCCTCTCCCCCACCTTCCACTCCTACCATGCCAACCCTAGCAAACCACACACAAGCCAGGCCTCTGGGTCTTTGCACCTGCCGCTCCCTCTGCCTGGGATCCCCTCCCTCCTTCCCACACTGCTTTGCCTGCTGCTGAAACCCAGTCCCTCCTGCCAGGGCACTTCCCTTCATCCCCTCCCACCCTGCCTGCACCCCTCTTGTGGAGCCACGGTGCCCATGCTCACCTCCACCATGCCCCTGTCACCCCACTGCACCGTCACCCACTTGCTCACTCCCTCTCATAGGGCACTCCCAAAGGTGGGCCTCTCAGCCTCCTTTGCTTCCAGGGCCTGGCCCAGGGCTGACACACATTAATGGTTGTTGAATCCCACTGGATTCATGAAAGTTCAGCATCAGAAGGAACCCCGAAGCTATGGAGGACCCCCTCCTGCTTTAAAGCTGGGACATCAGGGCCAGATGGACCAAGCAGGTTACCAAGGACCCAATTAGTGAAGGCCAGGCCAGGAACTGAACTCGGAGCTTTGCTTCCCAGTGTGGCACCTTCACCTAGAATTTAAGGAGGTCTGGGCTGGTGGTGGGTGGCCCAGGGGCTGACAGGTGAGCTGTCCCCACCCCACCCCCGGGCCTCCAGCATCTCAGCCCTGTTCTCTCCGCACAGGCCCTATACTGCAGCTGCTTCGTCCCGGTGTACTGTGGCCTCATCCCCCCGACTTACCGCGGTGTGGTGAGTGCTTCGGCATGGTGAGGGGTGAGATGGGATCCAAGGGACCTCGGGTCCCTGTGACTCACACCTGGGGGAGCAGGGGGGTGGTCTCAGAATGCAGCGGGAGGACCTAGAGTTGGAGAGTTTCTCATGTTGTTACTCAGAATTCCCAATGTAGGTGGCTTTCTGGGCCTTTAAGATGAACTTCTCCAGCTGGGGTGGGTTCCTCTCTGGACCCACCTACCCACTGCCAAGCCGGGCAAATCAAGGCTCCATAGGCTTGGCAGGTTTTCCCAGACTTGACAGAGCAGAGGAGATGAAGCACTGGGACCTGGAAACTCAAATGATGAGGATGTTTTCTGAGGCCTGTAGGCCAGGGCCTTACAGACTTTAATGTGCCCTTGAATCACTCGGGGTCTCGTAAAATTATGCAAGTTCTGATCCAGGCGGTCTGAGGCAGTGCCTGAGGGTCTGCGC
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CACTAAAACCGTAGGGCCTTTCTGCCTCCCAGGAGCACCCTCCCCTGTAGGAGGGTGACAATTACGATGCTGCATTGCTCAGGGAGGTCCCTGCTACACATATGCAGGTGTGATTCTGAAGGTTCGAAAAAAAAAAAGGCTGTCACCATGGCAACCCAGGCTTGCTCAGCCTCTTCATTCCTGAGATCAGTCCAAGCCCCAGGGAAAGAAGGTGGGGTATGGAGTCAGAAAAATCACTGCCTGGCTGCCTGACCTCAGGCAAGACACTTAGCTTTTCTCTGTGTCAGTTTCTGCGTCTGTAAAATGGTGCTGAAGCTTTTCTTACTCACCTCCAGGACTGGGGTGGAATAATCGGTAAACCATAAAACACAGGAGGAGTAGGGCATCCTTAGTTTTGGCTTGTCCCCAGATTGCCATGTGACTTTGGGTAAATCACTTAACCTCTCTGTGTCTCAGGTGCTCTATTTATAAATAGGCGAGTAAGGCACACTGATTACTTCCCGGATATATTGCAAGGTGCCTGTGAGAATCCCAGAATCTCAAAGTTGGAAGGAATCTTAGCCCTTAGCACTCATGCAGGAATCTTTTTGATAAACTCTCTGACAGAGATACTTGCCTAGCCTCTGCCTGGTTACCTCCTGTGGCAAAAAACTCATGACCGCACAGCTTCCCATGTAGCCATTGCTACATGACACTAACCATAAGAAAGTTCTACCATATAGCGTATCATAGCATATTTTACAAATAAATGTTTGTTTTAAAAAAGTTAGCAATCCTTTCCAGAGCTATTTTCACTCCTGATTTTCCCAAAGGCTTGCACAGGGTAGAGATGAGCAGGGGTCAGCAAAAAGCAGGTGTGGGCTCGGCTGCAGAAGAAGCTTTTGGCTTAGTGTAATAGCAGGAGCCTGGGCTCTGGGGTCACACATCCTAGGTTGAAATGCTACTTTACCCACTTACAAACTGGCTGACGCTGACCCTGGGAAAGTTATATTACCTATCTGAGCCTCAGTTTCCTGATCAGTAAAAGGAAGATAGAAATACCTACCTCCCAGTATTGTTGTGGGAATTAAGCAAGTTAGCACTTCTTATTAAGCTTACAACCCAGACTTCCCTGGTGGGGTTCTGGGGACTTGGGGTGGGGAAGATTACACCCTCCTCTGCCACCCCCGAATAGCGCATCTGCCCACTGAGCAAATGGCACAGGCGAGCCTTACATAGTCCATATCTCAGGGTCATCTCCCTCTCAGACCTGGACCAGGGCCATAAAGGAAAGATGATGCAATGGTTTCAAGACAAAGTTCACCTCCTCCTCATGATTCACCGGCCCAAGGCCAGCACCCCTTCCCTGCCCACAGACTCAGTGGGCACCAAGCAAGTATCCCAGGGCGTCACTTAGGAACAACTTCCAACTGCACCAGTGTTTTAATAGGAATCTCATACAGGACCCCAAAAATGTCATCTGGCAGTGGACTTCCAGGCAGAGTGACAAGAAGTTAGGGAAAGCTATTGGGGGTTGGGCTAAAGTGTTCCTTTAGCTGTTGATATGAAGGTGTCTGTCACGTAATGACTCCTGGACAAAGGTCAGGATGCCTGGGTCCAGCTCCATCATTGCCTAGCTCTGGGCTCTCCGGAGCCAGCGACTTCCTTCCTCAATATCTTGCTTCCGTCATGTGCAAGACAGCAGGCCGATTCCTGGGGTTTTCCCAGCTTCCGAATTCTAGGTTTCCCCATTTGTTGGATTCAGAGATGAGTTGGAGAAACCACCCTAGACCTCCCTTGGCCCCTGGCCACTGGGTGGCACCGACCACCCCCTCTTCTCTGCTTCCTTTGCAGATGAGTATCTCAGAGTCCTCAACGTGGGTGTGGCCGAGGTGAAGAAATCCTTCCTGGGGCCCTTGTCCCCGTCCTGTAAGATGGTGCAGATGATGAGGCAGTTTCTGTACCGGGTCCTGCCCGAGGACTCCTACAAGGTCACCACGGGGAAGCTCCATGTGAGCCTCACCCGCTTAACGGACGGGGAGAATGTGGTGGTTTCAGAGTTCACGTCCGAGGAGGAGCTCATTGAGGCAAGGGGGCTGGGCTGGGAGGGAGGGACACGGAGGGGGCGGGGGAGGGCGGCTCCTGCTCTTTCTCCACAGCTCAACCCGATGCCTTATCCACCTGCCTCACTTCCCTAGTCCTTCCCTTCCTTCATGCCCCCAGAGTCTCGCTGTGCAAGGTGCAGTGCTAGATGAGATGGACACAGAAGCCCAGGACGAACCAGGCTTGACCGCCACCCTCAATGCTTCGGCCTTCACATCCATCCTGCCCGGCCCCCTGCGCTAAGCCTGGAGCTTCCCAGAGGCCCAGGTGTGACTTGCAGAGGGCCTGGGTCTCCTTCAGGGCCTTCCAGGCTGGGCTGCCATGCATCCCCCCAGAATTACTCCCACTTTGTGGGAACGGTCAGGGGAGAGGGGCCCCCATGTCCCCTTTCTGCCCCCTCTCTTCCAGTGGCCCTTGATAAGGGATTGAATGGTTACCAAATCAGTTAACACTTAGAAAAGTGCACGCTAATCCTGAGTGCGCTGCCCTAAGCTCATTAATATTAATTTTAGTTATGAATAATGATTGCTGGAAAGGGCCGCAGGTAGGTCCCAGTGTCTTTCGGGACAAAGGGGTTAAGCTGTGTGGCCTCCTTCCCACATCTCCACTCTCCTTCCTTCCCCCACATACAGGGGCTTCGCCACTCCATCCTCATCCCATACTGGCCTGGCAGTAATCCTGGGGATGAGGGATGAATAGGCAGTGGGCACAGACACCACCTCCGTCCCTCAGGCCCCCTGGGTTTATCAGCAGCCAGCTCTTCCAGATCTGCCTCCTCACGCCCACCCCCGTTCTGACTTCACTGCCCACTGCTGCAGTTTTCTCTTCCCGGCCCTCTCCCCCACCTTCCACTCCTACCATGCCAACCCTAGCAAACCACACACAAGCCAGGCCTCTGGGTCTTTGCACCTGCCGCTCCCTCTGCCTGGGATCCCCTCCCTCCTTCCCACACTGCTTTGCCTGCTGCTGAAACCCAGTCCCTCCTGCCAGGGCACTTCCCTTCATCCCCTCCCACCCTGCCTGCACCCCTCTTGTGGAGCCACGGTGCCCATGCTCACCTCCACCATGCCCCTGTCACCCCACTGCACCGTCACCCACTTGCTCACTCCCTCTCATAGGGCACTCCCAAAGGTGGGCCTCTCAGCCTCCTTTGCTTCCAGGGCCTGGCCCAGGGCTGACACACATTAATGGTTGTTGAATCCCACTGGATTCATGAAAGTTCAGCATCAGAAGGAACCCCGAAGCTATGGAGGACCCCCTCCTGCTTTAAAGCTGGGACATCAGGGCCAGATGGACCAAGCAGGTTACCAAGGACCCAATTAGTGAAGGCCAGGCCAGGAACTGAACTCGGAGCTTTGCTTCCCAGTGTGGCACCTTCACCTAGAATTTAAGGAGGTCTGGGCTGGTGGTGGGTGGCCCAGGGGCTGACAGGTGAGCTGTCCCCACCCCACCCCCGGGCCTCCAGCATCTCAGCCCTGTTCTCTCCGCACAGGCCCTATACTGCAGCTGCTTCGTCCCGGTGTACTGTGGCCTCATCCCCCCGACTTACCGCGGTGTGGTGAGTGCTTCGGCATGGTGAGGGGTGAGATGGGATCCAAGGGACCTCGGGTCCCTGTGACTCACACCTGGGGGAGCAGGGGGGTGGTCTCAGAATGCAGCGGGAGGACCTAGAGTTGGAGAGTTTCTCATGTTGTTACTCAGAATTCCCAATGTAGGTGGCTTTCTGGGCCTTTAAGATGAACTTCTCCAGCTGGGGTGGGTTCCTCTCTGGACCCACCTACCCACTGCCAAGCCGGGCAAATCAAGGCTCCATAGGCTTGGCAGGTTTTCCCAGACTTGACAGAGCAGAGGAGATGAAGCACTGGGACCTGGAAACTCAAATGATGAGGATGTTTTCTGAGGCCTGTAGGCCAGGGCCTTACAGACTTTAATGTGCCCTTGAATCACTCGGGGTCTCGTAAAATTATGCAAGTTCTGATCCAGGCGGTCTGAGGCAGTGCCTGAGGGTCTGCGC
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Task1_train_10262
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This alteration in PNPLA1 (patatin like domain 1, omega-hydroxyceramide transacylase) on Chromosome 6 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Congenital ichthyosiform erythroderma
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CTGTTGATATGAAGGTGTCTGTCACGTAATGACTCCTGGACAAAGGTCAGGATGCCTGGGTCCAGCTCCATCATTGCCTAGCTCTGGGCTCTCCGGAGCCAGCGACTTCCTTCCTCAATATCTTGCTTCCGTCATGTGCAAGACAGCAGGCCGATTCCTGGGGTTTTCCCAGCTTCCGAATTCTAGGTTTCCCCATTTGTTGGATTCAGAGATGAGTTGGAGAAACCACCCTAGACCTCCCTTGGCCCCTGGCCACTGGGTGGCACCGACCACCCCCTCTTCTCTGCTTCCTTTGCAGATGAGTATCTCAGAGTCCTCAACGTGGGTGTGGCCGAGGTGAAGAAATCCTTCCTGGGGCCCTTGTCCCCGTCCTGTAAGATGGTGCAGATGATGAGGCAGTTTCTGTACCGGGTCCTGCCCGAGGACTCCTACAAGGTCACCACGGGGAAGCTCCATGTGAGCCTCACCCGCTTAACGGACGGGGAGAATGTGGTGGTTTCAGAGTTCACGTCCAAGGAGGAGCTCATTGAGGCAAGGGGGCTGGGCTGGGAGGGAGGGACACGGAGGGGGCGGGGGAGGGCGGCTCCTGCTCTTTCTCCACAGCTCAACCCGATGCCTTATCCACCTGCCTCACTTCCCTAGTCCTTCCCTTCCTTCATGCCCCCAGAGTCTCGCTGTGCAAGGTGCAGTGCTAGATGAGATGGACACAGAAGCCCAGGACGAACCAGGCTTGACCGCCACCCTCAATGCTTCGGCCTTCACATCCATCCTGCCCGGCCCCCTGCGCTAAGCCTGGAGCTTCCCAGAGGCCCAGGTGTGACTTGCAGAGGGCCTGGGTCTCCTTCAGGGCCTTCCAGGCTGGGCTGCCATGCATCCCCCCAGAATTACTCCCACTTTGTGGGAACGGTCAGGGGAGAGGGGCCCCCATGTCCCCTTTCTGCCCCCTCTCTTCCAGTGGCCCTTGATAAGGGATTGAATGGTTACCAAATCAGTTAACACTTAGAAAAGTGCACGCTAATCCTGAGTGCGCTGCCCTAAGCTCATTAATATTAATTTTAGTTATGAATAATGATTGCTGGAAAGGGCCGCAGGTAGGTCCCAGTGTCTTTCGGGACAAAGGGGTTAAGCTGTGTGGCCTCCTTCCCACATCTCCACTCTCCTTCCTTCCCCCACATACAGGGGCTTCGCCACTCCATCCTCATCCCATACTGGCCTGGCAGTAATCCTGGGGATGAGGGATGAATAGGCAGTGGGCACAGACACCACCTCCGTCCCTCAGGCCCCCTGGGTTTATCAGCAGCCAGCTCTTCCAGATCTGCCTCCTCACGCCCACCCCCGTTCTGACTTCACTGCCCACTGCTGCAGTTTTCTCTTCCCGGCCCTCTCCCCCACCTTCCACTCCTACCATGCCAACCCTAGCAAACCACACACAAGCCAGGCCTCTGGGTCTTTGCACCTGCCGCTCCCTCTGCCTGGGATCCCCTCCCTCCTTCCCACACTGCTTTGCCTGCTGCTGAAACCCAGTCCCTCCTGCCAGGGCACTTCCCTTCATCCCCTCCCACCCTGCCTGCACCCCTCTTGTGGAGCCACGGTGCCCATGCTCACCTCCACCATGCCCCTGTCACCCCACTGCACCGTCACCCACTTGCTCACTCCCTCTCATAGGGCACTCCCAAAGGTGGGCCTCTCAGCCTCCTTTGCTTCCAGGGCCTGGCCCAGGGCTGACACACATTAATGGTTGTTGAATCCCACTGGATTCATGAAAGTTCAGCATCAGAAGGAACCCCGAAGCTATGGAGGACCCCCTCCTGCTTTAAAGCTGGGACATCAGGGCCAGATGGACCAAGCAGGTTACCAAGGACCCAATTAGTGAAGGCCAGGCCAGGAACTGAACTCGGAGCTTTGCTTCCCAGTGTGGCACCTTCACCTAGAATTTAAGGAGGTCTGGGCTGGTGGTGGGTGGCCCAGGGGCTGACAGGTGAGCTGTCCCCACCCCACCCCCGGGCCTCCAGCATCTCAGCCCTGTTCTCTCCGCACAGGCCCTATACTGCAGCTGCTTCGTCCCGGTGTACTGTGGCCTCATCCCCCCGACTTACCGCGGTGTGGTGAGTGCTTCGGCATGGTGAGGGGTGAGATGGGATCCAAGGGACCTCGGGTCCCTGTGACTCACACCTGGGGGAGCAGGGGGGTGGTCTCAGAATGCAGCGGGAGGACCTAGAGTTGGAGAGTTTCTCATGTTGTTACTCAGAATTCCCAATGTAGGTGGCTTTCTGGGCCTTTAAGATGAACTTCTCCAGCTGGGGTGGGTTCCTCTCTGGACCCACCTACCCACTGCCAAGCCGGGCAAATCAAGGCTCCATAGGCTTGGCAGGTTTTCCCAGACTTGACAGAGCAGAGGAGATGAAGCACTGGGACCTGGAAACTCAAATGATGAGGATGTTTTCTGAGGCCTGTAGGCCAGGGCCTTACAGACTTTAATGTGCCCTTGAATCACTCGGGGTCTCGTAAAATTATGCAAGTTCTGATCCAGGCGGTCTGAGGCAGTGCCTGAGGGTCTGCGCCCCTAACCAGCCTCAGGTGCTGCCCGTGCTGCTGGTGGGTGGGCCACACTCTGAGTGGTGATGGTCTAGCTCATGCCCCCTCCTCATTTTATATGCAGAGAAAGTCAGGGCCAGAGACTAGGATTCAGGTAGTAGATGGAGCTTGTATTGCATGTCAGCCAGCCCTGAGAGTTAGAGCCTCAGTATTTGTTGTCCTTCGTTCATAGGTGAGAAAACAGAAGCCCCAGAAAGGAAGGGGCTTGTGGGTGAACAGGTGGTGGGGCTGTAGCAGAGGAGCACGTCTCCTGCTTTACCCAGAGTATGGGTCCCCTGCACACAGAGCCCTGGGAGCCCCAGTCTCAGCGCCACTAAGATAGTGGAGGGAGGATCAGTGCAGGACAGAGCACCGGGCTGGGAGTCCAGAGGCCAATGCAGACTCACTAAGTGACCAGGGGCACACCACGCACCCACCAGGACCTCCGTCTCCAGGCTTATCCTGAGGGGTCTTCTGGATCTTCCTTGATGGGCCCTTGAAGCTGGTGCCATATCCCATGGGCCATTTCGATGTACCCCGAGTGGGGCTGAGAACTCTGGCCCCAAGTGGGCATTTCTCACTCTGCCCCCACAGAGGTACATCGATGGGGGCTTCACGGGCATGCAGCCCTGTGCCTTCTGGACCGACGCCATCACCATCTCCACCTTCAGTGGGCAGCAGGACATCTGTCCCCGGGACTGCCCGGCCATCTTCCACGACTTCCGCATGTTCAACTGCTCCTTCCAGTTCTCCCTGGAGAACATCGCCAGGATGACCCACGCATTGTTCCCCCCGGACCTGGTGGTGAGAGGCAGGAGGGGTCTGGGGAGTAGCAGAAGGTACCAGGGACTAGGGGTGGGGTTAGAGAGCCACTGGGGCCCACTCAAGTTCCATCTGAGTCTCCTCCCCTCAAATGGTCCTTTAAACTTCCTCCTAGACCTGCATCCTGGCCTTGCTGCTAACTAGCTATGTGACCTTGAACAAGCGCCTCAAGCTCTCCCAGCTTCAACATTCTCCCCGGTAAAGCGAGATGATGCCAGAAGTGCTGATAGAAATATTAACTGAACCCATCCATTCAGACAGTTCATGTCCCAAATCAAAGGTCGGCAAGCTGCAGCCCACGGGCCAAATCTAGCCTATGGCTTGTTTTTGTACAGCCTGTGAGCTAAGAAAGGGTTTTCCATTTTTAGAGAGTTATGGGGGAAAGAAAAAAAGAAGAAAAAGAAAAAGAACATTAGGCAGAGACTGCATGTGGCCAGCAAAGCCCAAAATAAGTATTTACTATCTGGCCCTTTACAGAAAAGGCTTTGTGGGCAGTAGCTCATGTAATCCTCTAGCATCCTCTATGATCAATATTATAACTGTCCCCATTTTATAGATGAAGAAATTGAGGCTGTGAGAGGGGACAGCAACACAGCCAATAAGGGGCAGCCCAGAGACCTGAACTCAGGCTCCAAACTTTGCTCTTCATATGGCCCCAGTGCACCTGGTTCTGCCATGAGCACCCCACACTTTCCTCCCA
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CTGTTGATATGAAGGTGTCTGTCACGTAATGACTCCTGGACAAAGGTCAGGATGCCTGGGTCCAGCTCCATCATTGCCTAGCTCTGGGCTCTCCGGAGCCAGCGACTTCCTTCCTCAATATCTTGCTTCCGTCATGTGCAAGACAGCAGGCCGATTCCTGGGGTTTTCCCAGCTTCCGAATTCTAGGTTTCCCCATTTGTTGGATTCAGAGATGAGTTGGAGAAACCACCCTAGACCTCCCTTGGCCCCTGGCCACTGGGTGGCACCGACCACCCCCTCTTCTCTGCTTCCTTTGCAGATGAGTATCTCAGAGTCCTCAACGTGGGTGTGGCCGAGGTGAAGAAATCCTTCCTGGGGCCCTTGTCCCCGTCCTGTAAGATGGTGCAGATGATGAGGCAGTTTCTGTACCGGGTCCTGCCCGAGGACTCCTACAAGGTCACCACGGGGAAGCTCCATGTGAGCCTCACCCGCTTAACGGACGGGGAGAATGTGGTGGTTTCAGAGTTCACGTCCAAGGAGGAGCTCATTGAGGCAAGGGGGCTGGGCTGGGAGGGAGGGACACGGAGGGGGCGGGGGAGGGCGGCTCCTGCTCTTTCTCCACAGCTCAACCCGATGCCTTATCCACCTGCCTCACTTCCCTAGTCCTTCCCTTCCTTCATGCCCCCAGAGTCTCGCTGTGCAAGGTGCAGTGCTAGATGAGATGGACACAGAAGCCCAGGACGAACCAGGCTTGACCGCCACCCTCAATGCTTCGGCCTTCACATCCATCCTGCCCGGCCCCCTGCGCTAAGCCTGGAGCTTCCCAGAGGCCCAGGTGTGACTTGCAGAGGGCCTGGGTCTCCTTCAGGGCCTTCCAGGCTGGGCTGCCATGCATCCCCCCAGAATTACTCCCACTTTGTGGGAACGGTCAGGGGAGAGGGGCCCCCATGTCCCCTTTCTGCCCCCTCTCTTCCAGTGGCCCTTGATAAGGGATTGAATGGTTACCAAATCAGTTAACACTTAGAAAAGTGCACGCTAATCCTGAGTGCGCTGCCCTAAGCTCATTAATATTAATTTTAGTTATGAATAATGATTGCTGGAAAGGGCCGCAGGTAGGTCCCAGTGTCTTTCGGGACAAAGGGGTTAAGCTGTGTGGCCTCCTTCCCACATCTCCACTCTCCTTCCTTCCCCCACATACAGGGGCTTCGCCACTCCATCCTCATCCCATACTGGCCTGGCAGTAATCCTGGGGATGAGGGATGAATAGGCAGTGGGCACAGACACCACCTCCGTCCCTCAGGCCCCCTGGGTTTATCAGCAGCCAGCTCTTCCAGATCTGCCTCCTCACGCCCACCCCCGTTCTGACTTCACTGCCCACTGCTGCAGTTTTCTCTTCCCGGCCCTCTCCCCCACCTTCCACTCCTACCATGCCAACCCTAGCAAACCACACACAAGCCAGGCCTCTGGGTCTTTGCACCTGCCGCTCCCTCTGCCTGGGATCCCCTCCCTCCTTCCCACACTGCTTTGCCTGCTGCTGAAACCCAGTCCCTCCTGCCAGGGCACTTCCCTTCATCCCCTCCCACCCTGCCTGCACCCCTCTTGTGGAGCCACGGTGCCCATGCTCACCTCCACCATGCCCCTGTCACCCCACTGCACCGTCACCCACTTGCTCACTCCCTCTCATAGGGCACTCCCAAAGGTGGGCCTCTCAGCCTCCTTTGCTTCCAGGGCCTGGCCCAGGGCTGACACACATTAATGGTTGTTGAATCCCACTGGATTCATGAAAGTTCAGCATCAGAAGGAACCCCGAAGCTATGGAGGACCCCCTCCTGCTTTAAAGCTGGGACATCAGGGCCAGATGGACCAAGCAGGTTACCAAGGACCCAATTAGTGAAGGCCAGGCCAGGAACTGAACTCGGAGCTTTGCTTCCCAGTGTGGCACCTTCACCTAGAATTTAAGGAGGTCTGGGCTGGTGGTGGGTGGCCCAGGGGCTGACAGGTGAGCTGTCCCCACCCCACCCCCGGGCCTCCAGCATCTCAGCCCTGTTCTCTCCGCACAGGCCCTATACCGCAGCTGCTTCGTCCCGGTGTACTGTGGCCTCATCCCCCCGACTTACCGCGGTGTGGTGAGTGCTTCGGCATGGTGAGGGGTGAGATGGGATCCAAGGGACCTCGGGTCCCTGTGACTCACACCTGGGGGAGCAGGGGGGTGGTCTCAGAATGCAGCGGGAGGACCTAGAGTTGGAGAGTTTCTCATGTTGTTACTCAGAATTCCCAATGTAGGTGGCTTTCTGGGCCTTTAAGATGAACTTCTCCAGCTGGGGTGGGTTCCTCTCTGGACCCACCTACCCACTGCCAAGCCGGGCAAATCAAGGCTCCATAGGCTTGGCAGGTTTTCCCAGACTTGACAGAGCAGAGGAGATGAAGCACTGGGACCTGGAAACTCAAATGATGAGGATGTTTTCTGAGGCCTGTAGGCCAGGGCCTTACAGACTTTAATGTGCCCTTGAATCACTCGGGGTCTCGTAAAATTATGCAAGTTCTGATCCAGGCGGTCTGAGGCAGTGCCTGAGGGTCTGCGCCCCTAACCAGCCTCAGGTGCTGCCCGTGCTGCTGGTGGGTGGGCCACACTCTGAGTGGTGATGGTCTAGCTCATGCCCCCTCCTCATTTTATATGCAGAGAAAGTCAGGGCCAGAGACTAGGATTCAGGTAGTAGATGGAGCTTGTATTGCATGTCAGCCAGCCCTGAGAGTTAGAGCCTCAGTATTTGTTGTCCTTCGTTCATAGGTGAGAAAACAGAAGCCCCAGAAAGGAAGGGGCTTGTGGGTGAACAGGTGGTGGGGCTGTAGCAGAGGAGCACGTCTCCTGCTTTACCCAGAGTATGGGTCCCCTGCACACAGAGCCCTGGGAGCCCCAGTCTCAGCGCCACTAAGATAGTGGAGGGAGGATCAGTGCAGGACAGAGCACCGGGCTGGGAGTCCAGAGGCCAATGCAGACTCACTAAGTGACCAGGGGCACACCACGCACCCACCAGGACCTCCGTCTCCAGGCTTATCCTGAGGGGTCTTCTGGATCTTCCTTGATGGGCCCTTGAAGCTGGTGCCATATCCCATGGGCCATTTCGATGTACCCCGAGTGGGGCTGAGAACTCTGGCCCCAAGTGGGCATTTCTCACTCTGCCCCCACAGAGGTACATCGATGGGGGCTTCACGGGCATGCAGCCCTGTGCCTTCTGGACCGACGCCATCACCATCTCCACCTTCAGTGGGCAGCAGGACATCTGTCCCCGGGACTGCCCGGCCATCTTCCACGACTTCCGCATGTTCAACTGCTCCTTCCAGTTCTCCCTGGAGAACATCGCCAGGATGACCCACGCATTGTTCCCCCCGGACCTGGTGGTGAGAGGCAGGAGGGGTCTGGGGAGTAGCAGAAGGTACCAGGGACTAGGGGTGGGGTTAGAGAGCCACTGGGGCCCACTCAAGTTCCATCTGAGTCTCCTCCCCTCAAATGGTCCTTTAAACTTCCTCCTAGACCTGCATCCTGGCCTTGCTGCTAACTAGCTATGTGACCTTGAACAAGCGCCTCAAGCTCTCCCAGCTTCAACATTCTCCCCGGTAAAGCGAGATGATGCCAGAAGTGCTGATAGAAATATTAACTGAACCCATCCATTCAGACAGTTCATGTCCCAAATCAAAGGTCGGCAAGCTGCAGCCCACGGGCCAAATCTAGCCTATGGCTTGTTTTTGTACAGCCTGTGAGCTAAGAAAGGGTTTTCCATTTTTAGAGAGTTATGGGGGAAAGAAAAAAAGAAGAAAAAGAAAAAGAACATTAGGCAGAGACTGCATGTGGCCAGCAAAGCCCAAAATAAGTATTTACTATCTGGCCCTTTACAGAAAAGGCTTTGTGGGCAGTAGCTCATGTAATCCTCTAGCATCCTCTATGATCAATATTATAACTGTCCCCATTTTATAGATGAAGAAATTGAGGCTGTGAGAGGGGACAGCAACACAGCCAATAAGGGGCAGCCCAGAGACCTGAACTCAGGCTCCAAACTTTGCTCTTCATATGGCCCCAGTGCACCTGGTTCTGCCATGAGCACCCCACACTTTCCTCCCA
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Task1_train_10263
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Mutation context: Chromosome 6, Gene PNPLA1 (patatin like domain 1, omega-hydroxyceramide transacylase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Autosomal recessive congenital ichthyosis 10
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GTCTGTCACGTAATGACTCCTGGACAAAGGTCAGGATGCCTGGGTCCAGCTCCATCATTGCCTAGCTCTGGGCTCTCCGGAGCCAGCGACTTCCTTCCTCAATATCTTGCTTCCGTCATGTGCAAGACAGCAGGCCGATTCCTGGGGTTTTCCCAGCTTCCGAATTCTAGGTTTCCCCATTTGTTGGATTCAGAGATGAGTTGGAGAAACCACCCTAGACCTCCCTTGGCCCCTGGCCACTGGGTGGCACCGACCACCCCCTCTTCTCTGCTTCCTTTGCAGATGAGTATCTCAGAGTCCTCAACGTGGGTGTGGCCGAGGTGAAGAAATCCTTCCTGGGGCCCTTGTCCCCGTCCTGTAAGATGGTGCAGATGATGAGGCAGTTTCTGTACCGGGTCCTGCCCGAGGACTCCTACAAGGTCACCACGGGGAAGCTCCATGTGAGCCTCACCCGCTTAACGGACGGGGAGAATGTGGTGGTTTCAGAGTTCACGTCCAAGGAGGAGCTCATTGAGGCAAGGGGGCTGGGCTGGGAGGGAGGGACACGGAGGGGGCGGGGGAGGGCGGCTCCTGCTCTTTCTCCACAGCTCAACCCGATGCCTTATCCACCTGCCTCACTTCCCTAGTCCTTCCCTTCCTTCATGCCCCCAGAGTCTCGCTGTGCAAGGTGCAGTGCTAGATGAGATGGACACAGAAGCCCAGGACGAACCAGGCTTGACCGCCACCCTCAATGCTTCGGCCTTCACATCCATCCTGCCCGGCCCCCTGCGCTAAGCCTGGAGCTTCCCAGAGGCCCAGGTGTGACTTGCAGAGGGCCTGGGTCTCCTTCAGGGCCTTCCAGGCTGGGCTGCCATGCATCCCCCCAGAATTACTCCCACTTTGTGGGAACGGTCAGGGGAGAGGGGCCCCCATGTCCCCTTTCTGCCCCCTCTCTTCCAGTGGCCCTTGATAAGGGATTGAATGGTTACCAAATCAGTTAACACTTAGAAAAGTGCACGCTAATCCTGAGTGCGCTGCCCTAAGCTCATTAATATTAATTTTAGTTATGAATAATGATTGCTGGAAAGGGCCGCAGGTAGGTCCCAGTGTCTTTCGGGACAAAGGGGTTAAGCTGTGTGGCCTCCTTCCCACATCTCCACTCTCCTTCCTTCCCCCACATACAGGGGCTTCGCCACTCCATCCTCATCCCATACTGGCCTGGCAGTAATCCTGGGGATGAGGGATGAATAGGCAGTGGGCACAGACACCACCTCCGTCCCTCAGGCCCCCTGGGTTTATCAGCAGCCAGCTCTTCCAGATCTGCCTCCTCACGCCCACCCCCGTTCTGACTTCACTGCCCACTGCTGCAGTTTTCTCTTCCCGGCCCTCTCCCCCACCTTCCACTCCTACCATGCCAACCCTAGCAAACCACACACAAGCCAGGCCTCTGGGTCTTTGCACCTGCCGCTCCCTCTGCCTGGGATCCCCTCCCTCCTTCCCACACTGCTTTGCCTGCTGCTGAAACCCAGTCCCTCCTGCCAGGGCACTTCCCTTCATCCCCTCCCACCCTGCCTGCACCCCTCTTGTGGAGCCACGGTGCCCATGCTCACCTCCACCATGCCCCTGTCACCCCACTGCACCGTCACCCACTTGCTCACTCCCTCTCATAGGGCACTCCCAAAGGTGGGCCTCTCAGCCTCCTTTGCTTCCAGGGCCTGGCCCAGGGCTGACACACATTAATGGTTGTTGAATCCCACTGGATTCATGAAAGTTCAGCATCAGAAGGAACCCCGAAGCTATGGAGGACCCCCTCCTGCTTTAAAGCTGGGACATCAGGGCCAGATGGACCAAGCAGGTTACCAAGGACCCAATTAGTGAAGGCCAGGCCAGGAACTGAACTCGGAGCTTTGCTTCCCAGTGTGGCACCTTCACCTAGAATTTAAGGAGGTCTGGGCTGGTGGTGGGTGGCCCAGGGGCTGACAGGTGAGCTGTCCCCACCCCACCCCCGGGCCTCCAGCATCTCAGCCCTGTTCTCTCCGCACAGGCCCTATACTGCAGCTGCTTCGTCCCGGTGTACTGTGGCCTCATCCCCCCGACTTACCGCGGTGTGGTGAGTGCTTCGGCATGGTGAGGGGTGAGATGGGATCCAAGGGACCTCGGGTCCCTGTGACTCACACCTGGGGGAGCAGGGGGGTGGTCTCAGAATGCAGCGGGAGGACCTAGAGTTGGAGAGTTTCTCATGTTGTTACTCAGAATTCCCAATGTAGGTGGCTTTCTGGGCCTTTAAGATGAACTTCTCCAGCTGGGGTGGGTTCCTCTCTGGACCCACCTACCCACTGCCAAGCCGGGCAAATCAAGGCTCCATAGGCTTGGCAGGTTTTCCCAGACTTGACAGAGCAGAGGAGATGAAGCACTGGGACCTGGAAACTCAAATGATGAGGATGTTTTCTGAGGCCTGTAGGCCAGGGCCTTACAGACTTTAATGTGCCCTTGAATCACTCGGGGTCTCGTAAAATTATGCAAGTTCTGATCCAGGCGGTCTGAGGCAGTGCCTGAGGGTCTGCGCCCCTAACCAGCCTCAGGTGCTGCCCGTGCTGCTGGTGGGTGGGCCACACTCTGAGTGGTGATGGTCTAGCTCATGCCCCCTCCTCATTTTATATGCAGAGAAAGTCAGGGCCAGAGACTAGGATTCAGGTAGTAGATGGAGCTTGTATTGCATGTCAGCCAGCCCTGAGAGTTAGAGCCTCAGTATTTGTTGTCCTTCGTTCATAGGTGAGAAAACAGAAGCCCCAGAAAGGAAGGGGCTTGTGGGTGAACAGGTGGTGGGGCTGTAGCAGAGGAGCACGTCTCCTGCTTTACCCAGAGTATGGGTCCCCTGCACACAGAGCCCTGGGAGCCCCAGTCTCAGCGCCACTAAGATAGTGGAGGGAGGATCAGTGCAGGACAGAGCACCGGGCTGGGAGTCCAGAGGCCAATGCAGACTCACTAAGTGACCAGGGGCACACCACGCACCCACCAGGACCTCCGTCTCCAGGCTTATCCTGAGGGGTCTTCTGGATCTTCCTTGATGGGCCCTTGAAGCTGGTGCCATATCCCATGGGCCATTTCGATGTACCCCGAGTGGGGCTGAGAACTCTGGCCCCAAGTGGGCATTTCTCACTCTGCCCCCACAGAGGTACATCGATGGGGGCTTCACGGGCATGCAGCCCTGTGCCTTCTGGACCGACGCCATCACCATCTCCACCTTCAGTGGGCAGCAGGACATCTGTCCCCGGGACTGCCCGGCCATCTTCCACGACTTCCGCATGTTCAACTGCTCCTTCCAGTTCTCCCTGGAGAACATCGCCAGGATGACCCACGCATTGTTCCCCCCGGACCTGGTGGTGAGAGGCAGGAGGGGTCTGGGGAGTAGCAGAAGGTACCAGGGACTAGGGGTGGGGTTAGAGAGCCACTGGGGCCCACTCAAGTTCCATCTGAGTCTCCTCCCCTCAAATGGTCCTTTAAACTTCCTCCTAGACCTGCATCCTGGCCTTGCTGCTAACTAGCTATGTGACCTTGAACAAGCGCCTCAAGCTCTCCCAGCTTCAACATTCTCCCCGGTAAAGCGAGATGATGCCAGAAGTGCTGATAGAAATATTAACTGAACCCATCCATTCAGACAGTTCATGTCCCAAATCAAAGGTCGGCAAGCTGCAGCCCACGGGCCAAATCTAGCCTATGGCTTGTTTTTGTACAGCCTGTGAGCTAAGAAAGGGTTTTCCATTTTTAGAGAGTTATGGGGGAAAGAAAAAAAGAAGAAAAAGAAAAAGAACATTAGGCAGAGACTGCATGTGGCCAGCAAAGCCCAAAATAAGTATTTACTATCTGGCCCTTTACAGAAAAGGCTTTGTGGGCAGTAGCTCATGTAATCCTCTAGCATCCTCTATGATCAATATTATAACTGTCCCCATTTTATAGATGAAGAAATTGAGGCTGTGAGAGGGGACAGCAACACAGCCAATAAGGGGCAGCCCAGAGACCTGAACTCAGGCTCCAAACTTTGCTCTTCATATGGCCCCAGTGCACCTGGTTCTGCCATGAGCACCCCACACTTTCCTCCCAGGGGAGGCCGAGGCTC
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GTCTGTCACGTAATGACTCCTGGACAAAGGTCAGGATGCCTGGGTCCAGCTCCATCATTGCCTAGCTCTGGGCTCTCCGGAGCCAGCGACTTCCTTCCTCAATATCTTGCTTCCGTCATGTGCAAGACAGCAGGCCGATTCCTGGGGTTTTCCCAGCTTCCGAATTCTAGGTTTCCCCATTTGTTGGATTCAGAGATGAGTTGGAGAAACCACCCTAGACCTCCCTTGGCCCCTGGCCACTGGGTGGCACCGACCACCCCCTCTTCTCTGCTTCCTTTGCAGATGAGTATCTCAGAGTCCTCAACGTGGGTGTGGCCGAGGTGAAGAAATCCTTCCTGGGGCCCTTGTCCCCGTCCTGTAAGATGGTGCAGATGATGAGGCAGTTTCTGTACCGGGTCCTGCCCGAGGACTCCTACAAGGTCACCACGGGGAAGCTCCATGTGAGCCTCACCCGCTTAACGGACGGGGAGAATGTGGTGGTTTCAGAGTTCACGTCCAAGGAGGAGCTCATTGAGGCAAGGGGGCTGGGCTGGGAGGGAGGGACACGGAGGGGGCGGGGGAGGGCGGCTCCTGCTCTTTCTCCACAGCTCAACCCGATGCCTTATCCACCTGCCTCACTTCCCTAGTCCTTCCCTTCCTTCATGCCCCCAGAGTCTCGCTGTGCAAGGTGCAGTGCTAGATGAGATGGACACAGAAGCCCAGGACGAACCAGGCTTGACCGCCACCCTCAATGCTTCGGCCTTCACATCCATCCTGCCCGGCCCCCTGCGCTAAGCCTGGAGCTTCCCAGAGGCCCAGGTGTGACTTGCAGAGGGCCTGGGTCTCCTTCAGGGCCTTCCAGGCTGGGCTGCCATGCATCCCCCCAGAATTACTCCCACTTTGTGGGAACGGTCAGGGGAGAGGGGCCCCCATGTCCCCTTTCTGCCCCCTCTCTTCCAGTGGCCCTTGATAAGGGATTGAATGGTTACCAAATCAGTTAACACTTAGAAAAGTGCACGCTAATCCTGAGTGCGCTGCCCTAAGCTCATTAATATTAATTTTAGTTATGAATAATGATTGCTGGAAAGGGCCGCAGGTAGGTCCCAGTGTCTTTCGGGACAAAGGGGTTAAGCTGTGTGGCCTCCTTCCCACATCTCCACTCTCCTTCCTTCCCCCACATACAGGGGCTTCGCCACTCCATCCTCATCCCATACTGGCCTGGCAGTAATCCTGGGGATGAGGGATGAATAGGCAGTGGGCACAGACACCACCTCCGTCCCTCAGGCCCCCTGGGTTTATCAGCAGCCAGCTCTTCCAGATCTGCCTCCTCACGCCCACCCCCGTTCTGACTTCACTGCCCACTGCTGCAGTTTTCTCTTCCCGGCCCTCTCCCCCACCTTCCACTCCTACCATGCCAACCCTAGCAAACCACACACAAGCCAGGCCTCTGGGTCTTTGCACCTGCCGCTCCCTCTGCCTGGGATCCCCTCCCTCCTTCCCACACTGCTTTGCCTGCTGCTGAAACCCAGTCCCTCCTGCCAGGGCACTTCCCTTCATCCCCTCCCACCCTGCCTGCACCCCTCTTGTGGAGCCACGGTGCCCATGCTCACCTCCACCATGCCCCTGTCACCCCACTGCACCGTCACCCACTTGCTCACTCCCTCTCATAGGGCACTCCCAAAGGTGGGCCTCTCAGCCTCCTTTGCTTCCAGGGCCTGGCCCAGGGCTGACACACATTAATGGTTGTTGAATCCCACTGGATTCATGAAAGTTCAGCATCAGAAGGAACCCCGAAGCTATGGAGGACCCCCTCCTGCTTTAAAGCTGGGACATCAGGGCCAGATGGACCAAGCAGGTTACCAAGGACCCAATTAGTGAAGGCCAGGCCAGGAACTGAACTCGGAGCTTTGCTTCCCAGTGTGGCACCTTCACCTAGAATTTAAGGAGGTCTGGGCTGGTGGTGGGTGGCCCAGGGGCTGACAGGTGAGCTGTCCCCACCCCACCCCCGGGCCTCCAGCATCTCAGCCCTGTTCTCTCCGCACAGGCCCTATACTGCAGCTGCTTCGTCCTGGTGTACTGTGGCCTCATCCCCCCGACTTACCGCGGTGTGGTGAGTGCTTCGGCATGGTGAGGGGTGAGATGGGATCCAAGGGACCTCGGGTCCCTGTGACTCACACCTGGGGGAGCAGGGGGGTGGTCTCAGAATGCAGCGGGAGGACCTAGAGTTGGAGAGTTTCTCATGTTGTTACTCAGAATTCCCAATGTAGGTGGCTTTCTGGGCCTTTAAGATGAACTTCTCCAGCTGGGGTGGGTTCCTCTCTGGACCCACCTACCCACTGCCAAGCCGGGCAAATCAAGGCTCCATAGGCTTGGCAGGTTTTCCCAGACTTGACAGAGCAGAGGAGATGAAGCACTGGGACCTGGAAACTCAAATGATGAGGATGTTTTCTGAGGCCTGTAGGCCAGGGCCTTACAGACTTTAATGTGCCCTTGAATCACTCGGGGTCTCGTAAAATTATGCAAGTTCTGATCCAGGCGGTCTGAGGCAGTGCCTGAGGGTCTGCGCCCCTAACCAGCCTCAGGTGCTGCCCGTGCTGCTGGTGGGTGGGCCACACTCTGAGTGGTGATGGTCTAGCTCATGCCCCCTCCTCATTTTATATGCAGAGAAAGTCAGGGCCAGAGACTAGGATTCAGGTAGTAGATGGAGCTTGTATTGCATGTCAGCCAGCCCTGAGAGTTAGAGCCTCAGTATTTGTTGTCCTTCGTTCATAGGTGAGAAAACAGAAGCCCCAGAAAGGAAGGGGCTTGTGGGTGAACAGGTGGTGGGGCTGTAGCAGAGGAGCACGTCTCCTGCTTTACCCAGAGTATGGGTCCCCTGCACACAGAGCCCTGGGAGCCCCAGTCTCAGCGCCACTAAGATAGTGGAGGGAGGATCAGTGCAGGACAGAGCACCGGGCTGGGAGTCCAGAGGCCAATGCAGACTCACTAAGTGACCAGGGGCACACCACGCACCCACCAGGACCTCCGTCTCCAGGCTTATCCTGAGGGGTCTTCTGGATCTTCCTTGATGGGCCCTTGAAGCTGGTGCCATATCCCATGGGCCATTTCGATGTACCCCGAGTGGGGCTGAGAACTCTGGCCCCAAGTGGGCATTTCTCACTCTGCCCCCACAGAGGTACATCGATGGGGGCTTCACGGGCATGCAGCCCTGTGCCTTCTGGACCGACGCCATCACCATCTCCACCTTCAGTGGGCAGCAGGACATCTGTCCCCGGGACTGCCCGGCCATCTTCCACGACTTCCGCATGTTCAACTGCTCCTTCCAGTTCTCCCTGGAGAACATCGCCAGGATGACCCACGCATTGTTCCCCCCGGACCTGGTGGTGAGAGGCAGGAGGGGTCTGGGGAGTAGCAGAAGGTACCAGGGACTAGGGGTGGGGTTAGAGAGCCACTGGGGCCCACTCAAGTTCCATCTGAGTCTCCTCCCCTCAAATGGTCCTTTAAACTTCCTCCTAGACCTGCATCCTGGCCTTGCTGCTAACTAGCTATGTGACCTTGAACAAGCGCCTCAAGCTCTCCCAGCTTCAACATTCTCCCCGGTAAAGCGAGATGATGCCAGAAGTGCTGATAGAAATATTAACTGAACCCATCCATTCAGACAGTTCATGTCCCAAATCAAAGGTCGGCAAGCTGCAGCCCACGGGCCAAATCTAGCCTATGGCTTGTTTTTGTACAGCCTGTGAGCTAAGAAAGGGTTTTCCATTTTTAGAGAGTTATGGGGGAAAGAAAAAAAGAAGAAAAAGAAAAAGAACATTAGGCAGAGACTGCATGTGGCCAGCAAAGCCCAAAATAAGTATTTACTATCTGGCCCTTTACAGAAAAGGCTTTGTGGGCAGTAGCTCATGTAATCCTCTAGCATCCTCTATGATCAATATTATAACTGTCCCCATTTTATAGATGAAGAAATTGAGGCTGTGAGAGGGGACAGCAACACAGCCAATAAGGGGCAGCCCAGAGACCTGAACTCAGGCTCCAAACTTTGCTCTTCATATGGCCCCAGTGCACCTGGTTCTGCCATGAGCACCCCACACTTTCCTCCCAGGGGAGGCCGAGGCTC
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Task1_train_10264
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A genetic alteration is present in PNPLA1 (patatin like domain 1, omega-hydroxyceramide transacylase) on Chromosome 6. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; not provided
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GTGTGGCCTCCTTCCCACATCTCCACTCTCCTTCCTTCCCCCACATACAGGGGCTTCGCCACTCCATCCTCATCCCATACTGGCCTGGCAGTAATCCTGGGGATGAGGGATGAATAGGCAGTGGGCACAGACACCACCTCCGTCCCTCAGGCCCCCTGGGTTTATCAGCAGCCAGCTCTTCCAGATCTGCCTCCTCACGCCCACCCCCGTTCTGACTTCACTGCCCACTGCTGCAGTTTTCTCTTCCCGGCCCTCTCCCCCACCTTCCACTCCTACCATGCCAACCCTAGCAAACCACACACAAGCCAGGCCTCTGGGTCTTTGCACCTGCCGCTCCCTCTGCCTGGGATCCCCTCCCTCCTTCCCACACTGCTTTGCCTGCTGCTGAAACCCAGTCCCTCCTGCCAGGGCACTTCCCTTCATCCCCTCCCACCCTGCCTGCACCCCTCTTGTGGAGCCACGGTGCCCATGCTCACCTCCACCATGCCCCTGTCACCCCACTGCACCGTCACCCACTTGCTCACTCCCTCTCATAGGGCACTCCCAAAGGTGGGCCTCTCAGCCTCCTTTGCTTCCAGGGCCTGGCCCAGGGCTGACACACATTAATGGTTGTTGAATCCCACTGGATTCATGAAAGTTCAGCATCAGAAGGAACCCCGAAGCTATGGAGGACCCCCTCCTGCTTTAAAGCTGGGACATCAGGGCCAGATGGACCAAGCAGGTTACCAAGGACCCAATTAGTGAAGGCCAGGCCAGGAACTGAACTCGGAGCTTTGCTTCCCAGTGTGGCACCTTCACCTAGAATTTAAGGAGGTCTGGGCTGGTGGTGGGTGGCCCAGGGGCTGACAGGTGAGCTGTCCCCACCCCACCCCCGGGCCTCCAGCATCTCAGCCCTGTTCTCTCCGCACAGGCCCTATACTGCAGCTGCTTCGTCCCGGTGTACTGTGGCCTCATCCCCCCGACTTACCGCGGTGTGGTGAGTGCTTCGGCATGGTGAGGGGTGAGATGGGATCCAAGGGACCTCGGGTCCCTGTGACTCACACCTGGGGGAGCAGGGGGGTGGTCTCAGAATGCAGCGGGAGGACCTAGAGTTGGAGAGTTTCTCATGTTGTTACTCAGAATTCCCAATGTAGGTGGCTTTCTGGGCCTTTAAGATGAACTTCTCCAGCTGGGGTGGGTTCCTCTCTGGACCCACCTACCCACTGCCAAGCCGGGCAAATCAAGGCTCCATAGGCTTGGCAGGTTTTCCCAGACTTGACAGAGCAGAGGAGATGAAGCACTGGGACCTGGAAACTCAAATGATGAGGATGTTTTCTGAGGCCTGTAGGCCAGGGCCTTACAGACTTTAATGTGCCCTTGAATCACTCGGGGTCTCGTAAAATTATGCAAGTTCTGATCCAGGCGGTCTGAGGCAGTGCCTGAGGGTCTGCGCCCCTAACCAGCCTCAGGTGCTGCCCGTGCTGCTGGTGGGTGGGCCACACTCTGAGTGGTGATGGTCTAGCTCATGCCCCCTCCTCATTTTATATGCAGAGAAAGTCAGGGCCAGAGACTAGGATTCAGGTAGTAGATGGAGCTTGTATTGCATGTCAGCCAGCCCTGAGAGTTAGAGCCTCAGTATTTGTTGTCCTTCGTTCATAGGTGAGAAAACAGAAGCCCCAGAAAGGAAGGGGCTTGTGGGTGAACAGGTGGTGGGGCTGTAGCAGAGGAGCACGTCTCCTGCTTTACCCAGAGTATGGGTCCCCTGCACACAGAGCCCTGGGAGCCCCAGTCTCAGCGCCACTAAGATAGTGGAGGGAGGATCAGTGCAGGACAGAGCACCGGGCTGGGAGTCCAGAGGCCAATGCAGACTCACTAAGTGACCAGGGGCACACCACGCACCCACCAGGACCTCCGTCTCCAGGCTTATCCTGAGGGGTCTTCTGGATCTTCCTTGATGGGCCCTTGAAGCTGGTGCCATATCCCATGGGCCATTTCGATGTACCCCGAGTGGGGCTGAGAACTCTGGCCCCAAGTGGGCATTTCTCACTCTGCCCCCACAGAGGTACATCGATGGGGGCTTCACGGGCATGCAGCCCTGTGCCTTCTGGACCGACGCCATCACCATCTCCACCTTCAGTGGGCAGCAGGACATCTGTCCCCGGGACTGCCCGGCCATCTTCCACGACTTCCGCATGTTCAACTGCTCCTTCCAGTTCTCCCTGGAGAACATCGCCAGGATGACCCACGCATTGTTCCCCCCGGACCTGGTGGTGAGAGGCAGGAGGGGTCTGGGGAGTAGCAGAAGGTACCAGGGACTAGGGGTGGGGTTAGAGAGCCACTGGGGCCCACTCAAGTTCCATCTGAGTCTCCTCCCCTCAAATGGTCCTTTAAACTTCCTCCTAGACCTGCATCCTGGCCTTGCTGCTAACTAGCTATGTGACCTTGAACAAGCGCCTCAAGCTCTCCCAGCTTCAACATTCTCCCCGGTAAAGCGAGATGATGCCAGAAGTGCTGATAGAAATATTAACTGAACCCATCCATTCAGACAGTTCATGTCCCAAATCAAAGGTCGGCAAGCTGCAGCCCACGGGCCAAATCTAGCCTATGGCTTGTTTTTGTACAGCCTGTGAGCTAAGAAAGGGTTTTCCATTTTTAGAGAGTTATGGGGGAAAGAAAAAAAGAAGAAAAAGAAAAAGAACATTAGGCAGAGACTGCATGTGGCCAGCAAAGCCCAAAATAAGTATTTACTATCTGGCCCTTTACAGAAAAGGCTTTGTGGGCAGTAGCTCATGTAATCCTCTAGCATCCTCTATGATCAATATTATAACTGTCCCCATTTTATAGATGAAGAAATTGAGGCTGTGAGAGGGGACAGCAACACAGCCAATAAGGGGCAGCCCAGAGACCTGAACTCAGGCTCCAAACTTTGCTCTTCATATGGCCCCAGTGCACCTGGTTCTGCCATGAGCACCCCACACTTTCCTCCCAGGGGAGGCCGAGGCTCCACCATGAATGGTGTAACTCATGAACGGAGCATCACTGGGGCGTGTGATCAGGAATTGCTCCTCGGTTCTTCTTAGCAGACAGTGAGGGATGGGACACTGGATGGGTACGTTTTGAAAAGCCCATCAAATAAAATTCAAGAGCAATGGGAGTAGCTGCCCTGGGTCGGGGGAACTGTGGCTCCCTTCCTCCCCGCAGCCTTGGTAATTCTCCTGGTGCCTCCGCCCACAGATCCTGCACGATTACTACTACCGAGGGTACGAGGATGCAGTTTTGTACTTGAGGCGGCTGAGTAAGTACCGGTGGGGCCCCAGGTAAGGGCAGTGTTGGAGGGTAGGGAAAGTTCAAACAGTAGAAGGGCTGAATGGAGGGGTATTCCCCCCAGATTTGTGACCCGGAGACGCCCTTCACCTGGGAGAGCTGGAAATGGGGGTGGGGACCTAACAGGCTGCATCGCCCAGCCCAGACCGCTGGGTCCAGAAAGTAGGATCTCCATGTAAAGGGGGCTTTGGGGTTAACTAAGGGCACAGTGTCTAGGACAGTTGTGCATGTATGCTTATGAATGTAAAAACTCTATTTAGGAAATCCAGAGTTCAGATCTTCCTGGAGAATTCCATTTTCATGTAATTTCATTCTCTTCCACTTTATTCTCTTTCTAGTAAAATCACATTATTAATGTAGAATTGGATGTCACTAGTTTATATTTGTGTAAGACTTTGAGTGACCTATTGATCAGCAAATCACAGAGAAGAGCCCTTGCCCTATGTAGGTTTGGAATGGTGGTCCCTCCACCTATATATTCTCTGTGCTTTATCAGGGTGGAAGAAACAATTCCAATGACATGTCTTTTATGTGCTAACTCCATGGCAAACATCTTTGTTAAAAGAAATGAACAGGACTGGGTGTGGTGGCTCATGCCTGTAATCTCAGCACTGTAGGAGGGCAAGGCAGGAGAATCACTTGAGCCCAGGAATTTGAGACCAGCCTGGGCGATTGTGAGATTCCCAGCTCTACAAGAAATTAAACAATTAGCTGAGCATGGTGGCACACGCTTATAGCCCCAGCTACTTGAGATCAAGGCTGTAGCGAGCCATGACTGCACCACTGTACTCTA
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GTGTGGCCTCCTTCCCACATCTCCACTCTCCTTCCTTCCCCCACATACAGGGGCTTCGCCACTCCATCCTCATCCCATACTGGCCTGGCAGTAATCCTGGGGATGAGGGATGAATAGGCAGTGGGCACAGACACCACCTCCGTCCCTCAGGCCCCCTGGGTTTATCAGCAGCCAGCTCTTCCAGATCTGCCTCCTCACGCCCACCCCCGTTCTGACTTCACTGCCCACTGCTGCAGTTTTCTCTTCCCGGCCCTCTCCCCCACCTTCCACTCCTACCATGCCAACCCTAGCAAACCACACACAAGCCAGGCCTCTGGGTCTTTGCACCTGCCGCTCCCTCTGCCTGGGATCCCCTCCCTCCTTCCCACACTGCTTTGCCTGCTGCTGAAACCCAGTCCCTCCTGCCAGGGCACTTCCCTTCATCCCCTCCCACCCTGCCTGCACCCCTCTTGTGGAGCCACGGTGCCCATGCTCACCTCCACCATGCCCCTGTCACCCCACTGCACCGTCACCCACTTGCTCACTCCCTCTCATAGGGCACTCCCAAAGGTGGGCCTCTCAGCCTCCTTTGCTTCCAGGGCCTGGCCCAGGGCTGACACACATTAATGGTTGTTGAATCCCACTGGATTCATGAAAGTTCAGCATCAGAAGGAACCCCGAAGCTATGGAGGACCCCCTCCTGCTTTAAAGCTGGGACATCAGGGCCAGATGGACCAAGCAGGTTACCAAGGACCCAATTAGTGAAGGCCAGGCCAGGAACTGAACTCGGAGCTTTGCTTCCCAGTGTGGCACCTTCACCTAGAATTTAAGGAGGTCTGGGCTGGTGGTGGGTGGCCCAGGGGCTGACAGGTGAGCTGTCCCCACCCCACCCCCGGGCCTCCAGCATCTCAGCCCTGTTCTCTCCGCACAGGCCCTATACTGCAGCTGCTTCGTCCCGGTGTACTGTGGCCTCATCCCCCCGACTTACCGCGGTGTGGTGAGTGCTTCGGCATGGTGAGGGGTGAGATGGGATCCAAGGGACCTCGGGTCCCTGTGACTCACACCTGGGGGAGCAGGGGGGTGGTCTCAGAATGCAGCGGGAGGACCTAGAGTTGGAGAGTTTCTCATGTTGTTACTCAGAATTCCCAATGTAGGTGGCTTTCTGGGCCTTTAAGATGAACTTCTCCAGCTGGGGTGGGTTCCTCTCTGGACCCACCTACCCACTGCCAAGCCGGGCAAATCAAGGCTCCATAGGCTTGGCAGGTTTTCCCAGACTTGACAGAGCAGAGGAGATGAAGCACTGGGACCTGGAAACTCAAATGATGAGGATGTTTTCTGAGGCCTGTAGGCCAGGGCCTTACAGACTTTAATGTGCCCTTGAATCACTCGGGGTCTCGTAAAATTATGCAAGTTCTGATCCAGGCGGTCTGAGGCAGTGCCTGAGGGTCTGCGCCCCTAACCAGCCTCAGGTGCTGCCCGTGCTGCTGGTGGGTGGGCCACACTCTGAGTGGTGATGGTCTAGCTCATGCCCCCTCCTCATTTTATATGCAGAGAAAGTCAGGGCCAGAGACTAGGATTCAGGTAGTAGATGGAGCTTGTATTGCATGTCAGCCAGCCCTGAGAGTTAGAGCCTCAGTATTTGTTGTCCTTCGTTCATAGGTGAGAAAACAGAAGCCCCAGAAAGGAAGGGGCTTGTGGGTGAACAGGTGGTGGGGCTGTAGCAGAGGAGCACGTCTCCTGCTTTACCCAGAGTATGGGTCCCCTGCACACAGAGCCCTGGGAGCCCCAGTCTCAGCGCCACTAAGATAGTGGAGGGAGGATCAGTGCAGGACAGAGCACCGGGCTGGGAGTCCAGAGGCCAATGCAGACTCACTAAGTGACCAGGGGCACACCACGCACCCACCAGGACCTCCGTCTCCAGGCTTATCCTGAGGGGTCTTCTGGATCTTCCTTGATGGGCCCTTGAAGCTGGTGCCATATCCCATGGGCCATTTCGATGTACCCCGAGTGGGGCTGAGAACTCTGGCCCCAAGTGGGCATTTCTCACTCTGCCCCCACAGAGGTACATCAATGGGGGCTTCACGGGCATGCAGCCCTGTGCCTTCTGGACCGACGCCATCACCATCTCCACCTTCAGTGGGCAGCAGGACATCTGTCCCCGGGACTGCCCGGCCATCTTCCACGACTTCCGCATGTTCAACTGCTCCTTCCAGTTCTCCCTGGAGAACATCGCCAGGATGACCCACGCATTGTTCCCCCCGGACCTGGTGGTGAGAGGCAGGAGGGGTCTGGGGAGTAGCAGAAGGTACCAGGGACTAGGGGTGGGGTTAGAGAGCCACTGGGGCCCACTCAAGTTCCATCTGAGTCTCCTCCCCTCAAATGGTCCTTTAAACTTCCTCCTAGACCTGCATCCTGGCCTTGCTGCTAACTAGCTATGTGACCTTGAACAAGCGCCTCAAGCTCTCCCAGCTTCAACATTCTCCCCGGTAAAGCGAGATGATGCCAGAAGTGCTGATAGAAATATTAACTGAACCCATCCATTCAGACAGTTCATGTCCCAAATCAAAGGTCGGCAAGCTGCAGCCCACGGGCCAAATCTAGCCTATGGCTTGTTTTTGTACAGCCTGTGAGCTAAGAAAGGGTTTTCCATTTTTAGAGAGTTATGGGGGAAAGAAAAAAAGAAGAAAAAGAAAAAGAACATTAGGCAGAGACTGCATGTGGCCAGCAAAGCCCAAAATAAGTATTTACTATCTGGCCCTTTACAGAAAAGGCTTTGTGGGCAGTAGCTCATGTAATCCTCTAGCATCCTCTATGATCAATATTATAACTGTCCCCATTTTATAGATGAAGAAATTGAGGCTGTGAGAGGGGACAGCAACACAGCCAATAAGGGGCAGCCCAGAGACCTGAACTCAGGCTCCAAACTTTGCTCTTCATATGGCCCCAGTGCACCTGGTTCTGCCATGAGCACCCCACACTTTCCTCCCAGGGGAGGCCGAGGCTCCACCATGAATGGTGTAACTCATGAACGGAGCATCACTGGGGCGTGTGATCAGGAATTGCTCCTCGGTTCTTCTTAGCAGACAGTGAGGGATGGGACACTGGATGGGTACGTTTTGAAAAGCCCATCAAATAAAATTCAAGAGCAATGGGAGTAGCTGCCCTGGGTCGGGGGAACTGTGGCTCCCTTCCTCCCCGCAGCCTTGGTAATTCTCCTGGTGCCTCCGCCCACAGATCCTGCACGATTACTACTACCGAGGGTACGAGGATGCAGTTTTGTACTTGAGGCGGCTGAGTAAGTACCGGTGGGGCCCCAGGTAAGGGCAGTGTTGGAGGGTAGGGAAAGTTCAAACAGTAGAAGGGCTGAATGGAGGGGTATTCCCCCCAGATTTGTGACCCGGAGACGCCCTTCACCTGGGAGAGCTGGAAATGGGGGTGGGGACCTAACAGGCTGCATCGCCCAGCCCAGACCGCTGGGTCCAGAAAGTAGGATCTCCATGTAAAGGGGGCTTTGGGGTTAACTAAGGGCACAGTGTCTAGGACAGTTGTGCATGTATGCTTATGAATGTAAAAACTCTATTTAGGAAATCCAGAGTTCAGATCTTCCTGGAGAATTCCATTTTCATGTAATTTCATTCTCTTCCACTTTATTCTCTTTCTAGTAAAATCACATTATTAATGTAGAATTGGATGTCACTAGTTTATATTTGTGTAAGACTTTGAGTGACCTATTGATCAGCAAATCACAGAGAAGAGCCCTTGCCCTATGTAGGTTTGGAATGGTGGTCCCTCCACCTATATATTCTCTGTGCTTTATCAGGGTGGAAGAAACAATTCCAATGACATGTCTTTTATGTGCTAACTCCATGGCAAACATCTTTGTTAAAAGAAATGAACAGGACTGGGTGTGGTGGCTCATGCCTGTAATCTCAGCACTGTAGGAGGGCAAGGCAGGAGAATCACTTGAGCCCAGGAATTTGAGACCAGCCTGGGCGATTGTGAGATTCCCAGCTCTACAAGAAATTAAACAATTAGCTGAGCATGGTGGCACACGCTTATAGCCCCAGCTACTTGAGATCAAGGCTGTAGCGAGCCATGACTGCACCACTGTACTCTA
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Task1_train_10265
|
Given this variant in gene DNAH8 (dynein axonemal heavy chain 8) on Chromosome 6, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Spermatogenic failure 46
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CTGAGGCTCAGCGAGACTTAAAAACTTCCTAGGTCACCCAGCCAGTAAGAGAAAGAAGAAGTTGTTGTCTCTCTAACATAAAAATCTGACTGCTTAACCTCCACACTTGGTTTTTCTTTGACACCGAATAAAAGGAAATAAAAATAAAATTTCTGCAATAATTTAACAAGGTCCTATACGAAAGAATTGTAACAAATTCAGTTACCATGTGATTAAGGGTGAGCTTTGAGATTCAGTGTTGTAAAGATAGGAAACCAAAGGCATGAATAAACGGGAGTTTTTATGCTTTTATGTATCACCAGTTTTAAAGCTTTTATGTGTTTTCCATAAAGTTAAATCTCGAAGTTGCAAGATAACACAAAGCACTCTGAGTTTTTAAATGTCCCCATGGATAAAGATGATAAATTATAGGAAGCAAAATCAGAAATGTTTCTGATACACTTTATTGTAAGCAAACATCCAGTAAAGCAGTTAGGGGGAAATAAGAATAATCTGAAGTATTGATTATAAGTCAGGAAGTGGGATGAAGAAATGTACTCAGTGTAAAACTGTGGTCTAGAATTTTACAAAAAGCTTAACATGCTCCCTGGATTAAGAATAATATTGGAAATAGCAATTAGATATTGCATTAAGCTGTGAGTAACTGAAACCTAAAAAAAATTGTAGTTTAACATGTAAGGATTCTCTTAAGATCCTTTTATGGTTCTACTCCATCATGAATTCCATCTTCAAGGTCACCTTATGAACCAAGATGCTACAGAAAGCATCTCTATTGTGTTGCAGCCAATTGACTGAGTCAACTCTCTTCAAAAAAACATCAAGGATATTTAGTACAGTGTGCCCCTTTGCATCTCGCAGTGTAGAATATAATCACAGCAGCTGCAAGGCAGGCTGGGAAATGTAGTTTTTAATCTAGGTGTTGCTGTACCCAGCTTGCAGGTGGGCTCCTGTGGCTCAGGAAGGTTAAGAGGAGTATTGAGAGGCAGCCTCAATTTCTGTATTTCCAGCCCCTAGCAAGGTACCTGGCCTATTGACAGTGCCCAGTAAATGGTCAGGGACTGAAGGTTTTTAACAAACTTGCCTAAAATAACTCATTCCTGTTGGCCTTACTTGTCTTTGAATCTCCAACCTTCCTTTGAGACTTGGGTCTGACCTCTGTTCAACCTGTTGCTTCTTAGGAGGACTTCATTTCCTGTCTGTCTCTACTTTTGTCCATTTCAGTGTTTTTCCCATCATTCCCTTCTTTATTTCCCCTCACTGCCATCTTTATTTCTCCTCACTTCCATGGGTTTTTGTTAGCCAAAGAGCTCTGTAACTGTGGCTGCAAAGAATAATTGAAGAGATGGAATAAAAAAAATGCCCAAGGAAGCTCATCAGTATAAAATCCTTAGTTTTTTTCTTCTTTCAATAACATACTTTAGACCATAATTATCAGGTATCTATTCAGTTTTCTCTTGTATTATTTCACGTTCTTTTCTATTTTTAAGCCAGCAGACACAATTTTCTATTTTTTAAGTCAGTAGACAATTTTGCCACACAAAATTGTGTGTGACTTTATTAATATCATGAAAATGGAAATATATAAAAGGGCATATAAATATTAATATACATGGTCTAATACATATTGTTTTGAGAAAACAAGAGTATTTTATGAATCTAATATTTTCAATACCATCTTAAAATCTGAATTAGGGGTTTGAAATATATTTGTATTCAGAAATGAAAATTGTTTTAGCAATTAAAAATTAAACATATTTTAACTTTTAGAACCCTGGATATGCTGGGCGCCAGGAACTACCAGAAAACCTAAAAATCCAGTTTAGAACTGTTGCTATGATGGTTCCTGATAGACAGGTATGCACTAGGATTTAAAAGCATAATGTGCTTTATGTTCTTTACTTGTTTTTCACTAAAGTTGAAAAAAACTCACTATATTAATTTTCAGATCATTATGAGAGTTAAACTTGCAAGCTGTGGTTTTCTTGAAAATGTTATCTTGGCTCAAAAATTTTACGTTCTTTACAAACTCTGTGAAGAGCAACTTACTAAACAGGTAACTTTATAGATCTGCTTTCCTCCTAGCAATAGTATTTGGTTTTTTTGCTTTGTAATTTTCCCTTGATAAATACTCATCAGTGAGTTAAAATCTCATTGACTCTTTTCTAAAATGCTTTTAGAATTAATTTTACCTATTGGTTGTGTATTTTTAAGACCCTTTTATTTTGAAATAATTGTAGATTCACAGGAAGTTGCAAAGGAATGTACAGGGAGGCATGTACCCTTCACCCTGCCTTGCCTGGTGGTTGACATCTTGTAACTGTAGCGCAATAACAAAACTGGAAATGGACACTGAAGCAGTCCACAGAGTTTAAGGTTTCATCAGTTATACATGCACTGGTGTGTGTATATGTGTGTGTGTGTGTGTGTGTGTGTGTAGTTGTATGGAATATGTAAGATACGGCTCTGTTCCATCACCACAAGGTTCCCTCATGCTACTTTATAGCCACACCCACCTCTCTCCCAAATCCCTAACCCATTAACCTTTTCTCCATGTCTAGAATTTTATTGCAAGAATGTTATGTAAACGGAATCACATAGTATGTAACCTCTTGGTTATGCATTTAAAAATCTATTGTTTGGGCCGGGTGCCGTGGCTCACGTCTGTAATCCCAGCATTCTGGGAGGCCGAGGCGAGTGGATCATGAGGTCGGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCAGGCGTGGTGGCACGCGCCTATAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTGGTGGTTGCAGTGAGCCGAGGTCCCGCCACTGCACTTCAGCCTGGATGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAACAAAAAAGAAACTATTGTTTGTTGCTCAGACTGTATCAGACTATATTATTCTCAAAAGATATTTAAGGTGTGAATACTTACTTGATCTTGCAGCTTGGATTTTCCCATGGAATGATCATATTTCAGTCAAAGGAAAGGCAGGAAGTTGAGCTAATAAACCTTTGTGGCTTAGTCACCCCAAAACTATCCCATATAAGTATCAGAATCGACCTATATGCATAGAGTGAGCCGTGAGTCTATGTTTAGTTTTTCAATTAAACCATCTTTTTGCCCTCTTCTCCCATCTCAGGTTCATTATGACTTTGGATTGAGAAATATTCTGTCTGTATTGAGGACTCTTGGATCTCAAAAAAGAGCCAGACCAGAAGATAGTGAATTAAGCATTGTCATGAGAGGACTAAGAGATATGAACCTTTCCAAACTGGTATCTTCTCTGAATTCTCTTCTTTTCCACAATTTTAATATTGTTTCTTTCTATTTGGTGGACAAGTAGAGGTAGGCTGATGTTGAGCTGTGAGCACCCATAATTACAGGGATAATAAGTGTGCAAAGCTACCACTGTGCTTCCAGAAGAAAGCAAAAGACCCCATGACCTGTGTGACCAACATGGACTATAAGTGCCTCCTTTTATCAGCTGTGTGCAGTGAAACAGGTCATCAGTGGGCTTCAGCTCCAAGACTCAACCTAGTTGTCTACCATTATTCACAAAGTGACACAAATTCTCAGCATAAGAATCTGGATTCACAGGGAACCATGAGAACTTTTTGCTTTCTCTGTATGTGACTAGCTTATCTCAGATATATCTCTCCCAAAACATAAACATCATTTCTATTTTCCAAAAACACATTGAAAATTTGCTGTGGAGAGCATGCTGCTTTCATGCTTGTCATGGTTACAGCCTGATTTTTTTTTTTTTCTTTGAAACAGACTCTCAGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCTCATTCCAGGCTCAAGCTATTTCCCTGCCCCAGCCTCCTGAGTAGCTGGGACTACTGGCACACACCACCATGCCTGGCTAATTTTTGTACTGTTTTGTAGAGATAGGGTTTTGCCATGTCACCCAGGCTGGTCTCAAACTCCTGGACTCAAGTGATCCACCCC
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CTGAGGCTCAGCGAGACTTAAAAACTTCCTAGGTCACCCAGCCAGTAAGAGAAAGAAGAAGTTGTTGTCTCTCTAACATAAAAATCTGACTGCTTAACCTCCACACTTGGTTTTTCTTTGACACCGAATAAAAGGAAATAAAAATAAAATTTCTGCAATAATTTAACAAGGTCCTATACGAAAGAATTGTAACAAATTCAGTTACCATGTGATTAAGGGTGAGCTTTGAGATTCAGTGTTGTAAAGATAGGAAACCAAAGGCATGAATAAACGGGAGTTTTTATGCTTTTATGTATCACCAGTTTTAAAGCTTTTATGTGTTTTCCATAAAGTTAAATCTCGAAGTTGCAAGATAACACAAAGCACTCTGAGTTTTTAAATGTCCCCATGGATAAAGATGATAAATTATAGGAAGCAAAATCAGAAATGTTTCTGATACACTTTATTGTAAGCAAACATCCAGTAAAGCAGTTAGGGGGAAATAAGAATAATCTGAAGTATTGATTATAAGTCAGGAAGTGGGATGAAGAAATGTACTCAGTGTAAAACTGTGGTCTAGAATTTTACAAAAAGCTTAACATGCTCCCTGGATTAAGAATAATATTGGAAATAGCAATTAGATATTGCATTAAGCTGTGAGTAACTGAAACCTAAAAAAAATTGTAGTTTAACATGTAAGGATTCTCTTAAGATCCTTTTATGGTTCTACTCCATCATGAATTCCATCTTCAAGGTCACCTTATGAACCAAGATGCTACAGAAAGCATCTCTATTGTGTTGCAGCCAATTGACTGAGTCAACTCTCTTCAAAAAAACATCAAGGATATTTAGTACAGTGTGCCCCTTTGCATCTCGCAGTGTAGAATATAATCACAGCAGCTGCAAGGCAGGCTGGGAAATGTAGTTTTTAATCTAGGTGTTGCTGTACCCAGCTTGCAGGTGGGCTCCTGTGGCTCAGGAAGGTTAAGAGGAGTATTGAGAGGCAGCCTCAATTTCTGTATTTCCAGCCCCTAGCAAGGTACCTGGCCTATTGACAGTGCCCAGTAAATGGTCAGGGACTGAAGGTTTTTAACAAACTTGCCTAAAATAACTCATTCCTGTTGGCCTTACTTGTCTTTGAATCTCCAACCTTCCTTTGAGACTTGGGTCTGACCTCTGTTCAACCTGTTGCTTCTTAGGAGGACTTCATTTCCTGTCTGTCTCTACTTTTGTCCATTTCAGTGTTTTTCCCATCATTCCCTTCTTTATTTCCCCTCACTGCCATCTTTATTTCTCCTCACTTCCATGGGTTTTTGTTAGCCAAAGAGCTCTGTAACTGTGGCTGCAAAGAATAATTGAAGAGATGGAATAAAAAAAATGCCCAAGGAAGCTCATCAGTATAAAATCCTTAGTTTTTTTCTTCTTTCAATAACATACTTTAGACCATAATTATCAGGTATCTATTCAGTTTTCTCTTGTATTATTTCACGTTCTTTTCTATTTTTAAGCCAGCAGACACAATTTTCTATTTTTTAAGTCAGTAGACAATTTTGCCACACAAAATTGTGTGTGACTTTATTAATATCATGAAAATGGAAATATATAAAAGGGCATATAAATATTAATATACATGGTCTAATACATATTGTTTTGAGAAAACAAGAGTATTTTATGAATCTAATATTTTCAATACCATCTTAAAATCTGAATTAGGGGTTTGAAATATATTTGTATTCAGAAATGAAAATTGTTTTAGCAATTAAAAATTAAACATATTTTAACTTTTAGAACCCTGGATATGCTGGGCGCCAGGAACTACCAGAAAACCTAAAAATCCAGTTTAGAACTGTTGCTATGATGGTTCCTGATAGACAGGTATGCACTAGGATTTAAAAGCATAATGTGCTTTATGTTCTTTACTTGTTTTTCACTAAAGTTGAAAAAAACTCACTATATTAATTTTCAGATCATTATGAGAGTTAAACTTGCAAGCTGTGGTTTTCTTGAAAATGTTATCTTGGCTCAAAAATTTTACGTTCTTTACAAACTCTGTGAAGAGCAACTTACTAGACAGGTAACTTTATAGATCTGCTTTCCTCCTAGCAATAGTATTTGGTTTTTTTGCTTTGTAATTTTCCCTTGATAAATACTCATCAGTGAGTTAAAATCTCATTGACTCTTTTCTAAAATGCTTTTAGAATTAATTTTACCTATTGGTTGTGTATTTTTAAGACCCTTTTATTTTGAAATAATTGTAGATTCACAGGAAGTTGCAAAGGAATGTACAGGGAGGCATGTACCCTTCACCCTGCCTTGCCTGGTGGTTGACATCTTGTAACTGTAGCGCAATAACAAAACTGGAAATGGACACTGAAGCAGTCCACAGAGTTTAAGGTTTCATCAGTTATACATGCACTGGTGTGTGTATATGTGTGTGTGTGTGTGTGTGTGTGTGTAGTTGTATGGAATATGTAAGATACGGCTCTGTTCCATCACCACAAGGTTCCCTCATGCTACTTTATAGCCACACCCACCTCTCTCCCAAATCCCTAACCCATTAACCTTTTCTCCATGTCTAGAATTTTATTGCAAGAATGTTATGTAAACGGAATCACATAGTATGTAACCTCTTGGTTATGCATTTAAAAATCTATTGTTTGGGCCGGGTGCCGTGGCTCACGTCTGTAATCCCAGCATTCTGGGAGGCCGAGGCGAGTGGATCATGAGGTCGGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCAGGCGTGGTGGCACGCGCCTATAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTGGTGGTTGCAGTGAGCCGAGGTCCCGCCACTGCACTTCAGCCTGGATGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAACAAAAAAGAAACTATTGTTTGTTGCTCAGACTGTATCAGACTATATTATTCTCAAAAGATATTTAAGGTGTGAATACTTACTTGATCTTGCAGCTTGGATTTTCCCATGGAATGATCATATTTCAGTCAAAGGAAAGGCAGGAAGTTGAGCTAATAAACCTTTGTGGCTTAGTCACCCCAAAACTATCCCATATAAGTATCAGAATCGACCTATATGCATAGAGTGAGCCGTGAGTCTATGTTTAGTTTTTCAATTAAACCATCTTTTTGCCCTCTTCTCCCATCTCAGGTTCATTATGACTTTGGATTGAGAAATATTCTGTCTGTATTGAGGACTCTTGGATCTCAAAAAAGAGCCAGACCAGAAGATAGTGAATTAAGCATTGTCATGAGAGGACTAAGAGATATGAACCTTTCCAAACTGGTATCTTCTCTGAATTCTCTTCTTTTCCACAATTTTAATATTGTTTCTTTCTATTTGGTGGACAAGTAGAGGTAGGCTGATGTTGAGCTGTGAGCACCCATAATTACAGGGATAATAAGTGTGCAAAGCTACCACTGTGCTTCCAGAAGAAAGCAAAAGACCCCATGACCTGTGTGACCAACATGGACTATAAGTGCCTCCTTTTATCAGCTGTGTGCAGTGAAACAGGTCATCAGTGGGCTTCAGCTCCAAGACTCAACCTAGTTGTCTACCATTATTCACAAAGTGACACAAATTCTCAGCATAAGAATCTGGATTCACAGGGAACCATGAGAACTTTTTGCTTTCTCTGTATGTGACTAGCTTATCTCAGATATATCTCTCCCAAAACATAAACATCATTTCTATTTTCCAAAAACACATTGAAAATTTGCTGTGGAGAGCATGCTGCTTTCATGCTTGTCATGGTTACAGCCTGATTTTTTTTTTTTTCTTTGAAACAGACTCTCAGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCTCATTCCAGGCTCAAGCTATTTCCCTGCCCCAGCCTCCTGAGTAGCTGGGACTACTGGCACACACCACCATGCCTGGCTAATTTTTGTACTGTTTTGTAGAGATAGGGTTTTGCCATGTCACCCAGGCTGGTCTCAAACTCCTGGACTCAAGTGATCCACCCC
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Task1_train_10266
|
The gene DAAM2 (dishevelled associated activator of morphogenesis 2), on Chromosome 6, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Nephrotic syndrome, type 24
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CTGTCTTAGCTGTAATGCTCTTTAATAGCCCAGTGTTCTTAGACCACTCACGCCAACCCCCTACAAGCCTTCTGTGTTGGATGGATCACCCCCCAAGGTCTGCTATGGGTGGCTCTACCATAGAACATTTACCACCCTTTCTCTGGCACTGGACTGTTACATGGAAGGCAGAGACCATGACTCTTTACTCCGTACTTTCAGAGCTCAGCACAGTGATTGGCATCTAGTAGGTCCCCATTCAGTGCATATGGCATGGGTAAATGACGAGCCAGCAAGTTTAGGAAAGGATGTGTTTGCCGACACAATTGTTTTTGGTGCTGATTCCCCTCCCCAAGGCAGAAGGCAGAATGTTTGGCCTTCAGTCATGGAGAATTTAACATGTATAACCATGATTAAATTTAACATTTAACCATGTGAAGTCATAAAGACCCAAACAAAGCAGCTTTTCTACTGGTCTAAGATTTGTATTTTGTGAAACAAAATAGAAAACATTGAGTGGATGGAGCTGAGAGCTGCAGGGCCCGCTGGCAGCTGGCAGAGAGGTGTTTTGTCAGGGAGGGTCTGGAGGAAGTTAAGTTTTCATGCCGATTTGGAAGCAGGAGAGTGGAGAAAGCAGATGGGGAGGAGCCTCCAAAGTGACCTGGGGCACAGGAACAGGAATGAGCAGGATGGGTGTGAGGCCCAGAAGCAGATCCATTTGGCTGGAGAAGGCTGGATTTTCAGTCAACATTAATATTTCTTTAACTCCCATCATTCTTGCCCATACTTGGGGAAGAGTCGAGCCTGTCTCTTGAGGGCTGAGCACTGGGCCAGAGGTCCTCGGATCTGGGCTCTGCCTCCCCGCTGCACATCCCCCTCATTCAGGAGTTTGCCAGGAATTAAATCACAGGCCTAAGGGGGTCTCCTGAGTCTTTTCAAAGCCCAAAGCCTTGGAAATTTCTCTATTTTTCTAAAGTTACTATTTAGTGAGTGCCTACTATGTGCCAAGTGTTTTCTATTAGTGTTCTAGAAATACCTGAAAGACTTAAGTTTTTAAATTTCCAAACTGTCACAGACCAATACTTTTGTAAAATATGAGAATGAGATTATCAGAAAAAGTAAAAAGATGTATAAAAATAAACAGGAATCTGAATTAGATTCAACAGCCAGGAAATTATATTTCATTAAATACAAGCTGAGCAAACAGAACAAGAGAAAAGAATTTTTAAAAAATGGTGCACGTTGCTCACTGAAAGTACACACACCTGCATAGTTTCTGCCCGCGTCGTTGTCTGGCCATGAGAGTCAATGTTCATCATCTGTATTTCACCAAGGGAGAAATGGAAGCCTGGGGGAGAGTGTAATTTCCTCCAACCCACCCGACATGGGCAGAGCTGAGAAATGAATCCCTCTGCTGACACGGAATGAAGCTCAGGATCTCAGGCCACGGGCCTGTCTTGCCTGTTGGTCCATGCTGTCCTTTTTCTTGTTTCAGGAGCAGGAGGACCCCAACAAGCTGGCAACCAGCTGGCCTGACTATTACATCGACCGCATCAATTCCATGGCTGCGGTGAGTGGCTGCCCCTCTCCTGCCCTGCCCCCACCTGGAAAGGCTACGGCAGGGAGTGATTCCCCCAGCCCCCACCCCCCACACACCAAACTGCCTTTTACTGCTCCTCAGCGCCCCACTGCCCACTCACTGGAGTTCAGCAGCTTTCCAGTTATTCATGAAATTTTAAGGTAATCCACCCCTCCTCTGGGCAATCTCAGAGTCCCCCAACCATTTAAACATTTTAAAATCCATTTGGGCATCACACAAACTTGGGAAATAAACCGGGCCAGTACTTCTCTCCATTTCACAGATGAGGAAAGTGAAGTCCCAGCCCAGAACCTAGGTCTTCCCAGGGGCCGACACTCGGTCTCAGTAAACCATTCCCTGAGGCCTCACCCTTTCTGAGGCAAGCATGGCCCCTGGGTCACACCTGAGCTGTAGTGCAGAGGGTTGGGAGACAGGCAGCCCCTTTCTACCTGCTGGCCCTCAGATGCAGAGTCTGTACGCGTTTGATGAGGAGGAGACGGAGATGAGGAACCAAGTCGTGGAAGACCTGAAGACAGCCCTCCGGACACAGCCTATGAGGTAATTCAGTTTCCCCCTCTTGCTTCCTGCTGAGTCCCTTCACAGTTGGTCTCCTTGCCTTCCCGAAGCCCTGTGCAGTGCTCTGCTCCCATGCCGGTCCTCCTGGCCAACTCTGCCTCACCTGACTTCACTTCCCAGCCCCTACTCCTCTCCTGGGAGGCTGCCAGGGCTTGGGAGGAGGGGAGAGAAACCTGGGAAAGTGGGATAAACCTCAGGTCCTGAGGAGCTCTCTAAAGAGGAATCGAGGGCAAGTGCTTTTTAAAAATTTATTGATTTATTTTTGGTAAGGGGATAGAATAGGAGCGTGACCAAATGGACAAGGTACAAAAGAAAGAGCCTTGTGAGGATGAGGGGGCAGGGTGAGTGCCCCATCCAGGAAAAGAGGGACGCACGGGTAGAGAAGTACTCCAACCACTAGGGGGCGGTGTGGTGTCTCTGGATGGGATTTGCCATCTAGAATGGGAGCAACGCAGGCATGGAAAATGGGGTAGAAGTCCTGGAGCCATAGGAGGACACCTTTCCCTTCCCAGGCCACAACGTGTGGGGCCCAAAGTGGGGCTCCTTGTGTCTGGGTCTGCCCCGTGGTGTGCTGGAACTGGCTAGTAACAGCTGGCGAATGCTGAGTGTCAAATTTTCAGCAATTTTGTAAGCTGGTTGTTAAACGTAGCTATGATTAAAATTTCAATTGTATAAATTTAAGATTCAGTAAGTTATATCAAAACAAAGGTAATAAATACTTGAAACTCTTCATTCCCAAATTACCTAATTATTTTTCTACATTTTACTATAAGGTATACTTTTGAGTTTACATGCATTGTATGTGCATGGAAACACTATGAAATATGCATCTCTTCCCAACTCTGCATTCAATGACATCATATCTGTAGCTTGAAATTGGCTATGCTGGGAGCATTTACACCATGGAAATGAGCAAACAATCAGGAGCCACCCTTCACCCTTCCCCTGGCGAAAAGCTAGCCATCCATTGCATGGGGATGTGTATGTTGTCTGAGCTGAGCTCTCTCCCCAGGAGACTAGAAACAGCCTCAAGAAGAATGGGAGCATCCCAATTGTCTCTTGTCATTCTGGTAGTGGTGGGGCTCTGGAATGGGAAGGGGATAGAGGAAAGGATGAGGTAGTCAGGAAATAAAGGGGTTGAGAGGAAGTTGCCAGGTTTGTCTCCTACCCCAATTTATTGTAATTTCCCTTAATAATATTCTGCTAACAAAAGTTACATATTGTCATTGTGGAAATTTTATGGAATGCAGACAAGCATAAAATAGAAAAAAGTAAAAAAATAGCTATTGTTAACAACTTAGTTTGAGAGCACATTCTTTTATTTTCTAGGCGTATTTGTACAATAACATAAACACAAATACGCTTGGGATAAGTAATGTTATTTATAATAATTTTCTTAGATCATTAATTATTTTACTAAATCAAGGGTACCTGTGTGTGTGGGCATGCCATGGACATCCGGCGCCTAGGTGAAACTTATGGACTGCTTCGCAGAAATGATGTTTTAAATAATAGATAAAAAGATAGGCATAACAAATCAATGAAAATACAGCTACAAATAATAAAAATGAGATAGCAATGAATTCTGCTTCTTTACACCTTAAATAGCAAGAGCTAGCTGCGAGTCTTGATAACCATCATAATTTTGAAGTACTGAGGAGTGTAAATGGTATTTTGAGATACCTGGTACAACTGTAATTTGGTATGAAAATAGCTGTGATTTCTTGGGGTGACAAAGTCACAGATTATGCTAATACTACTGTCATTTATTGCTGACATTCATCATTGAGGAAAATACTAAATTTTAATTAGAAGTTACCAAAAATAAAAATGTAATTTTCTTTTCCCACCCAAGTCCTTGGATCTGTGAATGCTATCCATAGATTCTTCAGCAGAACACAGACTCCAAATTAAGAACCCCTGAACTAAATGGGTTTTAATGTTTTTTTGCTAACATTCAAG
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CTGTCTTAGCTGTAATGCTCTTTAATAGCCCAGTGTTCTTAGACCACTCACGCCAACCCCCTACAAGCCTTCTGTGTTGGATGGATCACCCCCCAAGGTCTGCTATGGGTGGCTCTACCATAGAACATTTACCACCCTTTCTCTGGCACTGGACTGTTACATGGAAGGCAGAGACCATGACTCTTTACTCCGTACTTTCAGAGCTCAGCACAGTGATTGGCATCTAGTAGGTCCCCATTCAGTGCATATGGCATGGGTAAATGACGAGCCAGCAAGTTTAGGAAAGGATGTGTTTGCCGACACAATTGTTTTTGGTGCTGATTCCCCTCCCCAAGGCAGAAGGCAGAATGTTTGGCCTTCAGTCATGGAGAATTTAACATGTATAACCATGATTAAATTTAACATTTAACCATGTGAAGTCATAAAGACCCAAACAAAGCAGCTTTTCTACTGGTCTAAGATTTGTATTTTGTGAAACAAAATAGAAAACATTGAGTGGATGGAGCTGAGAGCTGCAGGGCCCGCTGGCAGCTGGCAGAGAGGTGTTTTGTCAGGGAGGGTCTGGAGGAAGTTAAGTTTTCATGCCGATTTGGAAGCAGGAGAGTGGAGAAAGCAGATGGGGAGGAGCCTCCAAAGTGACCTGGGGCACAGGAACAGGAATGAGCAGGATGGGTGTGAGGCCCAGAAGCAGATCCATTTGGCTGGAGAAGGCTGGATTTTCAGTCAACATTAATATTTCTTTAACTCCCATCATTCTTGCCCATACTTGGGGAAGAGTCGAGCCTGTCTCTTGAGGGCTGAGCACTGGGCCAGAGGTCCTCGGATCTGGGCTCTGCCTCCCCGCTGCACATCCCCCTCATTCAGGAGTTTGCCAGGAATTAAATCACAGGCCTAAGGGGGTCTCCTGAGTCTTTTCAAAGCCCAAAGCCTTGGAAATTTCTCTATTTTTCTAAAGTTACTATTTAGTGAGTGCCTACTATGTGCCAAGTGTTTTCTATTAGTGTTCTAGAAATACCTGAAAGACTTAAGTTTTTAAATTTCCAAACTGTCACAGACCAATACTTTTGTAAAATATGAGAATGAGATTATCAGAAAAAGTAAAAAGATGTATAAAAATAAACAGGAATCTGAATTAGATTCAACAGCCAGGAAATTATATTTCATTAAATACAAGCTGAGCAAACAGAACAAGAGAAAAGAATTTTTAAAAAATGGTGCACGTTGCTCACTGAAAGTACACACACCTGCATAGTTTCTGCCCGCGTCGTTGTCTGGCCATGAGAGTCAATGTTCATCATCTGTATTTCACCAAGGGAGAAATGGAAGCCTGGGGGAGAGTGTAATTTCCTCCAACCCACCCGACATGGGCAGAGCTGAGAAATGAATCCCTCTGCTGACACGGAATGAAGCTCAGGATCTCAGGCCACGGGCCTGTCTTGCCTGTTGGTCCATGCTGTCCTTTTTCTTGTTTCAGGAGCAGGAGGACCCCAACAAGCTGGCAACCAGCTGGCCTGACTATTACATCGACCGCATCAATTCCATGGCTGCGGTGAGTGGCTGCCCCTCTCCTGCCCTGCCCCCACCTGGAAAGGCTACGGCAGGGAGTGATTCCCCCAGCCCCCACCCCCCACACACCAAACTGCCTTTTACTGCTCCTCAGCGCCCCACTGCCCACTCACTGGAGTTCAGCAGCTTTCCAGTTATTCATGAAATTTTAAGGTAATCCACCCCTCCTCTGGGCAATCTCAGAGTCCCCCAACCATTTAAACATTTTAAAATCCATTTGGGCATCACACAAACTTGGGAAATAAACCGGGCCAGTACTTCTCTCCATTTCACAGATGAGGAAAGTGAAGTCCCAGCCCAGAACCTAGGTCTTCCCAGGGGCCGACACTCGGTCTCAGTAAACCATTCCCTGAGGCCTCACCCTTTCTGAGGCAAGCATGGCCCCTGGGTCACACCTGAGCTGTAGTGCAGAGGGTTGGGAGACAGGCAGCCCCTTTCTACCTGCTGGCCCTCAGATGCAGAGTCTGTACGCGTTTGATGAGCAGGAGACGGAGATGAGGAACCAAGTCGTGGAAGACCTGAAGACAGCCCTCCGGACACAGCCTATGAGGTAATTCAGTTTCCCCCTCTTGCTTCCTGCTGAGTCCCTTCACAGTTGGTCTCCTTGCCTTCCCGAAGCCCTGTGCAGTGCTCTGCTCCCATGCCGGTCCTCCTGGCCAACTCTGCCTCACCTGACTTCACTTCCCAGCCCCTACTCCTCTCCTGGGAGGCTGCCAGGGCTTGGGAGGAGGGGAGAGAAACCTGGGAAAGTGGGATAAACCTCAGGTCCTGAGGAGCTCTCTAAAGAGGAATCGAGGGCAAGTGCTTTTTAAAAATTTATTGATTTATTTTTGGTAAGGGGATAGAATAGGAGCGTGACCAAATGGACAAGGTACAAAAGAAAGAGCCTTGTGAGGATGAGGGGGCAGGGTGAGTGCCCCATCCAGGAAAAGAGGGACGCACGGGTAGAGAAGTACTCCAACCACTAGGGGGCGGTGTGGTGTCTCTGGATGGGATTTGCCATCTAGAATGGGAGCAACGCAGGCATGGAAAATGGGGTAGAAGTCCTGGAGCCATAGGAGGACACCTTTCCCTTCCCAGGCCACAACGTGTGGGGCCCAAAGTGGGGCTCCTTGTGTCTGGGTCTGCCCCGTGGTGTGCTGGAACTGGCTAGTAACAGCTGGCGAATGCTGAGTGTCAAATTTTCAGCAATTTTGTAAGCTGGTTGTTAAACGTAGCTATGATTAAAATTTCAATTGTATAAATTTAAGATTCAGTAAGTTATATCAAAACAAAGGTAATAAATACTTGAAACTCTTCATTCCCAAATTACCTAATTATTTTTCTACATTTTACTATAAGGTATACTTTTGAGTTTACATGCATTGTATGTGCATGGAAACACTATGAAATATGCATCTCTTCCCAACTCTGCATTCAATGACATCATATCTGTAGCTTGAAATTGGCTATGCTGGGAGCATTTACACCATGGAAATGAGCAAACAATCAGGAGCCACCCTTCACCCTTCCCCTGGCGAAAAGCTAGCCATCCATTGCATGGGGATGTGTATGTTGTCTGAGCTGAGCTCTCTCCCCAGGAGACTAGAAACAGCCTCAAGAAGAATGGGAGCATCCCAATTGTCTCTTGTCATTCTGGTAGTGGTGGGGCTCTGGAATGGGAAGGGGATAGAGGAAAGGATGAGGTAGTCAGGAAATAAAGGGGTTGAGAGGAAGTTGCCAGGTTTGTCTCCTACCCCAATTTATTGTAATTTCCCTTAATAATATTCTGCTAACAAAAGTTACATATTGTCATTGTGGAAATTTTATGGAATGCAGACAAGCATAAAATAGAAAAAAGTAAAAAAATAGCTATTGTTAACAACTTAGTTTGAGAGCACATTCTTTTATTTTCTAGGCGTATTTGTACAATAACATAAACACAAATACGCTTGGGATAAGTAATGTTATTTATAATAATTTTCTTAGATCATTAATTATTTTACTAAATCAAGGGTACCTGTGTGTGTGGGCATGCCATGGACATCCGGCGCCTAGGTGAAACTTATGGACTGCTTCGCAGAAATGATGTTTTAAATAATAGATAAAAAGATAGGCATAACAAATCAATGAAAATACAGCTACAAATAATAAAAATGAGATAGCAATGAATTCTGCTTCTTTACACCTTAAATAGCAAGAGCTAGCTGCGAGTCTTGATAACCATCATAATTTTGAAGTACTGAGGAGTGTAAATGGTATTTTGAGATACCTGGTACAACTGTAATTTGGTATGAAAATAGCTGTGATTTCTTGGGGTGACAAAGTCACAGATTATGCTAATACTACTGTCATTTATTGCTGACATTCATCATTGAGGAAAATACTAAATTTTAATTAGAAGTTACCAAAAATAAAAATGTAATTTTCTTTTCCCACCCAAGTCCTTGGATCTGTGAATGCTATCCATAGATTCTTCAGCAGAACACAGACTCCAAATTAAGAACCCCTGAACTAAATGGGTTTTAATGTTTTTTTGCTAACATTCAAG
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Task1_train_10267
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Here is a genetic alteration in DAAM2 (dishevelled associated activator of morphogenesis 2) on Chromosome 6. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Nephrotic syndrome, type 24
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GGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCATCATTGCACTCTAGCCTAGGGGACAAGAGCAAAACTCCATCTCAAAGAAACAACAAAAAAAGCAACAATAGAAGAACTTGAAGAGCAGGTGAACGTTCCAAATTCTAAGGCAATCAGATGCCCTGGTCAAGGTTAACTTGAAGGACAGAGGGGGCAAAGGGAGCAATTTAATGATCTTTACTTTCCCCTCTTTTCCGCCAGCATACTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAAACAATTTATCTTTATGCCCTGGGTTAGGGAAGGCCGGTTGGGGGAATAATCTGCCCCTAAGATGCTAACATCACCTTTGTTGGTACCACCTTTTCATGGCTGGCATGTGCTCTGATTAGCTGGTAACCACACCTCATCAGGTAATTATAACAAGTGTCATCCCTGTAGATTAGTTATGCTATGATCATTTCACAAATGGGGAAACTAAAAGTTTTCCCAAGGTCACAAAACCAGATCCAAGATCTGTCTGATTCCAAAGCTTGTGCTCCATGTCACTCTACAACACTGCTCTTTGGTGCTGAAGGCTAGAACTGGCAAGGGGCTTGAAGGAAGTGGGGCAGGAGACCTAAAAGAAGCTGGGCAGTGGGTTTGCTTTAAACTAAGAAATAAGGTCTCCATTCTTTCTTGGAACTCTGGGATTGGAAGCAGCTCCAGGTGAGTTAGCTGTGGGAGATGTGTTGGGTCTGTGGCTAGGGTGGTGATGAGGGCTCCACTGGGGATGTTGTGGAAACTGAGATCTGCCAATGAGTCTGGCCCTCCCTTGGTGACCCCCAGGATAATCTGGAGTTCCGCCTACATCTACGGTATGAATTCCTGATGCTGGGTATACAGCCTGTGATTGACAAGCTCCGGCAACATGAAAATGCCATCCTGGACAAGTAAGTTCCAAGCACCCGTCTCCATTGCAAACCTGTGGGGACAGTGCCTCAGATGGGGATAGTTGGGACCTTTGTGAAGGCTGCCCTTCCCTCTGGAGACCAGCTGCCATTCCCAGCGCAGATTCAGAATCAGCTCTGTGGGGGGAAGGGGTGCCCTTGCCTGTCCTCTTTGCTGACCTGCTTGTCTCATCTCTGATGTTATAGACAGGTGAACCCAGTAGCCCTCAACCATTGCAGTACTTCCCCCTGGGGGGCATGTGGAAATATATGAGGGTACTCTTTGGTTTTCAAACTGGTTGATGGTGGGCAATACTGGTATTGGTTGTTGGGGGCCAGGAATGCTAAATGTCCCGCAGTACCTTCCTGCTCAACAAAGAAATGTCCCACCCAAAATGCTTGCTATAACGCCCTTGTTGATCCAAGGGCACAATTATGTTCCCATGTGATACCAGTGAGGCCCCTCTGGTTCTGTCCCATTAGTTTAGGCTATTTTATTACACTAGGTTTTAAGGGACAGAGGATGGATCCTTTTGAGGTGGAACAAGTGGATGTGTGCATGAGGATAGAAAATGAGGGAGAGATTAGTTTTGAGGGTTGACTTGGAGACCCTATGAAAGTACTGGGGAAAATAGACCAGGGCTGATGTCCTCAACTGAGAGACATTGGGCGATGCCTGCAGACATTACATTCTTGGTTGTCACACTAGGGGGTGCTGCTGGCATCTAGTGGGTGGAGGCTGGGGATGCTGCTAAACATCCTCACAGATCAGCCTCCCACAACCAAAGATAAGCGAGCCCAAAATGTCAGTAGTGCCGAAGTATAGAAGCCCATTCTAAGGTGAAGGGACCCTGGATTGGCCTCCCTGAAGGAAGGTCATGGGATCTTATAAAGGGCAGACAATGGGTGTCCTACAAACAGCGGCTTCTTTCCCATTTTGCCTTCATTTTGCTTGAATGAAGCTTTCAGATTTAGCCAGTGGGGGGCTCGAAGGGGCTGTAACCCTCAACCAAGGGTGTGTCCTGGCTGTAATGTCTACTCTCTCTGTCTCCCCATTCTGTCTAGACATTTAGACTTCTTCGAGATGGTGCGGAATGAGGATGACCTGGAGCTAGCCAGGAGGTTTGACATGGTGAGGAGCCAGCAGGGTGGAGCGATTGCAATGGGGTAGTAGGGTTCTTGGTGGCCCCACAGCCACTTTTCTAGACCCCGTGTTGTGGCAGGGCTGGTGTGGGCTGGTTCCCTGGTGGGCACCCCCATGGCCAGGTCCTGTGATCAGTCATAGTTCTTCATAGAAACACAACCAATAGGATACATATATAGAGATAGACAGATGAGAGGGCATTTATTAGGCGAATTGGCTCACGCAACTATGGAGACTGAGAAGTCCCATGACAGGTCGGAGTTATTGCATGGAGAAACAGGGAAGCCAGTAGCATGGCTCAGTCCAAGGCCAAGGGCCTGAGAACATAAGGGGCCACTGGAGCAAGTTCTGGAATCCAAAAGCTGGAGAGCCTGCTGTTCTGATGTCCAAGGGCAGGAAAAGAAGGATGTCCTGGCTCCAAAAGAGGTAGACAGAAAATTCACCTTTCCTTGGCCTTTTTGTTCTCTCCAGACCCTAAGCTGATTGGATGGTGAGGAGCCCACAGGGTGGAGTGATCGTAGTATGGTAGTAGGGTTCTAGGTGGCCCCACAGCCATTTCTCCAGGCCCTGTGCTGTGGTGGAGCTGGTGTGGGATCTTCCTTACCCAGTCCTCTGATTCAAATGCCAGTCTCTTTGGGAAACACCCTCACAGACATACCCAGAAAGAATTCTTTACCAGCTATCTGAGTATCCCTTGATCCAGTCAAGTTGACACCTAAAACGAACCATCACATCTCACTTCCAGAGCCTTGGTAGTATGCAGGCTGTGGAAGCCTCCCCCGGGAAGGCATCGGCCTAGGAGGAGACTGAAACCCCCAAAGGAAAGGGAGCAAGTTATTGCATGTGATTAGTCTCAAATACCTTTCCTGGGCTGACTTTCCCCTGCCTTCCAGCAACTTCCTGAGTCCCCTCTCCCCATCCCTAACCAGATCATGCTTAGCAAACTAAATTGTATTTTCATTTTAACCTCGGCAACCCTGAAAGCACACAACTCTGCTTTATTGTGTTATAAAATCCCCATCCAAATAGAAAGCTACTTTTGGGTGGTGCTTTACAGTCACTGAGTGCATCCATTATATTTTCACAAAAGCCCTGGATTTATAGATACAGAAACAGAGGTTAGAGGGGATAAGCAGCTTGCCTGTCATCACACAACTAAAGCGTAGATCTGGGGTTTGAACCCAGGTGGTGGACCTGCGCCACATTCCACCTGCTACTTTGAATCCTCTATGCCCCTGCTCCCTTCCCTAGTTTGGATCAGTAGCTCTCAAGCAGGGATGATTTTGCTCTCCTCTCCCCCTGGGGACATTTGCAATGTCTGGGGACATTTTGACTTGTGTGAGGGGGTGCCACTGGCATCTGCTAAGGAGAGGCTGGGGTGCTGATACACAACCTACAAAGCACAGGGCAGCCCCCACAATGAGTAATTATCTGACCCAAGATGCCAATAGTGCTGAGACTGAGAAACTCTAGTTTATAAAATTGACTATCTCCCTGTTCCTTTTGTCTTTCTCTTTTTAAGCCTGGGCCAGAGGCAGGGGAAGAAAACCTTTCCTATGAGACAGGGCATAGTGGATGGAAGCAGGGTCTTCTCTCTCCTGCTGACTTCCTCTGCTGCCTACCCACTGATCACTGTGCCCTCTTCTCTCCCAGGTCCACATCGACACCAAGAGTGCTTCCCAGATGTTTGAGTTGATCCACAAGAAGCTGAAGTACACGGAGGCCTACCCCTGCCTGCTCTCTGTGCTGCACCACTGCCTGCAGATGCCCTGTAAGTACCCTGCACTTGCTGCTTCCCTCGACTGGCCTGAACCTTGACTTGGGGCAGGTTTAGACAAGACTTTGGGACCTCCCTGGTTTGGGGAGTCTGACCATGTCTCCCTGTGCACTTGCTTTTGGGAGGGCAGGCCCCATGACGGAGGCCCCTGCTTTTCCTTCCCTCCTTGGGGTCAGGTCTTCACTGTCATCTGGGGAAGGAGCTGGGGACTTGGCCCT
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GGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCATCATTGCACTCTAGCCTAGGGGACAAGAGCAAAACTCCATCTCAAAGAAACAACAAAAAAAGCAACAATAGAAGAACTTGAAGAGCAGGTGAACGTTCCAAATTCTAAGGCAATCAGATGCCCTGGTCAAGGTTAACTTGAAGGACAGAGGGGGCAAAGGGAGCAATTTAATGATCTTTACTTTCCCCTCTTTTCCGCCAGCATACTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAAACAATTTATCTTTATGCCCTGGGTTAGGGAAGGCCGGTTGGGGGAATAATCTGCCCCTAAGATGCTAACATCACCTTTGTTGGTACCACCTTTTCATGGCTGGCATGTGCTCTGATTAGCTGGTAACCACACCTCATCAGGTAATTATAACAAGTGTCATCCCTGTAGATTAGTTATGCTATGATCATTTCACAAATGGGGAAACTAAAAGTTTTCCCAAGGTCACAAAACCAGATCCAAGATCTGTCTGATTCCAAAGCTTGTGCTCCATGTCACTCTACAACACTGCTCTTTGGTGCTGAAGGCTAGAACTGGCAAGGGGCTTGAAGGAAGTGGGGCAGGAGACCTAAAAGAAGCTGGGCAGTGGGTTTGCTTTAAACTAAGAAATAAGGTCTCCATTCTTTCTTGGAACTCTGGGATTGGAAGCAGCTCCAGGTGAGTTAGCTGTGGGAGATGTGTTGGGTCTGTGGCTAGGGTGGTGATGAGGGCTCCACTGGGGATGTTGTGGAAACTGAGATCTGCCAATGAGTCTGGCCCTCCCTTGGTGACCCCCAGGATAATCTGGAGTTCCGCCTACATCTACGGTATGAATTCCTGATGCTGGGTATACAGCCTGTGATTGACAAGCTCCGGCAACATGAAAATGCCATCCTGGACAAGTAAGTTCCAAGCACCCGTCTCCATTGCAAACCTGTGGGGACAGTGCCTCAGATGGGGATAGTTGGGACCTTTGTGAAGGCTGCCCTTCCCTCTGGAGACCAGCTGCCATTCCCAGCGCAGATTCAGAATCAGCTCTGTGGGGGGAAGGGGTGCCCTTGCCTGTCCTCTTTGCTGACCTGCTTGTCTCATCTCTGATGTTATAGACAGGTGAACCCAGTAGCCCTCAACCATTGCAGTACTTCCCCCTGGGGGGCATGTGGAAATATATGAGGGTACTCTTTGGTTTTCAAACTGGTTGATGGTGGGCAATACTGGTATTGGTTGTTGGGGGCCAGGAATGCTAAATGTCCCGCAGTACCTTCCTGCTCAACAAAGAAATGTCCCACCCAAAATGCTTGCTATAACGCCCTTGTTGATCCAAGGGCACAATTATGTTCCCATGTGATACCAGTGAGGCCCCTCTGGTTCTGTCCCATTAGTTTAGGCTATTTTATTACACTAGGTTTTAAGGGACAGAGGATGGATCCTTTTGAGGTGGAACAAGTGGATGTGTGCATGAGGATAGAAAATGAGGGAGAGATTAGTTTTGAGGGTTGACTTGGAGACCCTATGAAAGTACTGGGGAAAATAGACCAGGGCTGATGTCCTCAACTGAGAGACATTGGGCGATGCCTGCAGACATTACATTCTTGGTTGTCACACTAGGGGGTGCTGCTGGCATCTAGTGGGTGGAGGCTGGGGATGCTGCTAAACATCCTCACAGATCAGCCTCCCACAACCAAAGATAAGCGAGCCCAAAATGTCAGTAGTGCCGAAGTATAGAAGCCCATTCTAAGGTGAAGGGACCCTGGATTGGCCTCCCTGAAGGAAGGTCATGGGATCTTATAAAGGGCAGACAATGGGTGTCCTACAAACAGCGGCTTCTTTCCCATTTTGCCTTCATTTTGCTTGAATGAAGCTTTCAGATTTAGCCAGTGGGGGGCTCGAAGGGGCTGTAACCCTCAACCAAGGGTGTGTCCTGGCTGTAATGTCTACTCTCTCTGTCTCCCCATTCTGTCTAGACATTTAGACTTCTTCGAGATGGTGCAGAATGAGGATGACCTGGAGCTAGCCAGGAGGTTTGACATGGTGAGGAGCCAGCAGGGTGGAGCGATTGCAATGGGGTAGTAGGGTTCTTGGTGGCCCCACAGCCACTTTTCTAGACCCCGTGTTGTGGCAGGGCTGGTGTGGGCTGGTTCCCTGGTGGGCACCCCCATGGCCAGGTCCTGTGATCAGTCATAGTTCTTCATAGAAACACAACCAATAGGATACATATATAGAGATAGACAGATGAGAGGGCATTTATTAGGCGAATTGGCTCACGCAACTATGGAGACTGAGAAGTCCCATGACAGGTCGGAGTTATTGCATGGAGAAACAGGGAAGCCAGTAGCATGGCTCAGTCCAAGGCCAAGGGCCTGAGAACATAAGGGGCCACTGGAGCAAGTTCTGGAATCCAAAAGCTGGAGAGCCTGCTGTTCTGATGTCCAAGGGCAGGAAAAGAAGGATGTCCTGGCTCCAAAAGAGGTAGACAGAAAATTCACCTTTCCTTGGCCTTTTTGTTCTCTCCAGACCCTAAGCTGATTGGATGGTGAGGAGCCCACAGGGTGGAGTGATCGTAGTATGGTAGTAGGGTTCTAGGTGGCCCCACAGCCATTTCTCCAGGCCCTGTGCTGTGGTGGAGCTGGTGTGGGATCTTCCTTACCCAGTCCTCTGATTCAAATGCCAGTCTCTTTGGGAAACACCCTCACAGACATACCCAGAAAGAATTCTTTACCAGCTATCTGAGTATCCCTTGATCCAGTCAAGTTGACACCTAAAACGAACCATCACATCTCACTTCCAGAGCCTTGGTAGTATGCAGGCTGTGGAAGCCTCCCCCGGGAAGGCATCGGCCTAGGAGGAGACTGAAACCCCCAAAGGAAAGGGAGCAAGTTATTGCATGTGATTAGTCTCAAATACCTTTCCTGGGCTGACTTTCCCCTGCCTTCCAGCAACTTCCTGAGTCCCCTCTCCCCATCCCTAACCAGATCATGCTTAGCAAACTAAATTGTATTTTCATTTTAACCTCGGCAACCCTGAAAGCACACAACTCTGCTTTATTGTGTTATAAAATCCCCATCCAAATAGAAAGCTACTTTTGGGTGGTGCTTTACAGTCACTGAGTGCATCCATTATATTTTCACAAAAGCCCTGGATTTATAGATACAGAAACAGAGGTTAGAGGGGATAAGCAGCTTGCCTGTCATCACACAACTAAAGCGTAGATCTGGGGTTTGAACCCAGGTGGTGGACCTGCGCCACATTCCACCTGCTACTTTGAATCCTCTATGCCCCTGCTCCCTTCCCTAGTTTGGATCAGTAGCTCTCAAGCAGGGATGATTTTGCTCTCCTCTCCCCCTGGGGACATTTGCAATGTCTGGGGACATTTTGACTTGTGTGAGGGGGTGCCACTGGCATCTGCTAAGGAGAGGCTGGGGTGCTGATACACAACCTACAAAGCACAGGGCAGCCCCCACAATGAGTAATTATCTGACCCAAGATGCCAATAGTGCTGAGACTGAGAAACTCTAGTTTATAAAATTGACTATCTCCCTGTTCCTTTTGTCTTTCTCTTTTTAAGCCTGGGCCAGAGGCAGGGGAAGAAAACCTTTCCTATGAGACAGGGCATAGTGGATGGAAGCAGGGTCTTCTCTCTCCTGCTGACTTCCTCTGCTGCCTACCCACTGATCACTGTGCCCTCTTCTCTCCCAGGTCCACATCGACACCAAGAGTGCTTCCCAGATGTTTGAGTTGATCCACAAGAAGCTGAAGTACACGGAGGCCTACCCCTGCCTGCTCTCTGTGCTGCACCACTGCCTGCAGATGCCCTGTAAGTACCCTGCACTTGCTGCTTCCCTCGACTGGCCTGAACCTTGACTTGGGGCAGGTTTAGACAAGACTTTGGGACCTCCCTGGTTTGGGGAGTCTGACCATGTCTCCCTGTGCACTTGCTTTTGGGAGGGCAGGCCCCATGACGGAGGCCCCTGCTTTTCCTTCCCTCCTTGGGGTCAGGTCTTCACTGTCATCTGGGGAAGGAGCTGGGGACTTGGCCCT
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Task1_train_10268
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This gene mutation involves DAAM2 (dishevelled associated activator of morphogenesis 2) on Chromosome 6. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Idiopathic multidrug-resistant nephrotic syndrome
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GTTCCAAGTAGGGCCCCAGTCTACCCTACCTCCCTCCCAACTTCAGGGAACATGAGTCAAAACTCTTGGGGAAGGCCCAAAGAAACCCCTTCCTTGGATGGTGGTGAAGGAGGTAGCATCTTGGGGATAACAGCAGTGGCCCTCTTCAAAGAAATGTCTTCATGAAATACTCTCCCTCTCCATACTCTGTTCTCTATGTCCTTGATGTGGCTGAAGAGGCCAAAAGTCATGGGTCTAACTCTTCCACATTCTCAGATTTATAAAGGAAAGGATTCTTGGGATCTCGCTTTGGGATTTCACCTCTGTTAGGCCTTGGTGTCAAGGTAAAAGCTAAATTTGAACACAGTTTCAAGAGCTTGGCATGAACAAGGCTGTCCTCTGTGTCACTCTGAACACATTCAGTCTGTATTGCTGGTGTGGGTGATGTCTCTTGCTCTTACGCATTGGTCTTTGGAAACCTGGACCATGGTAGGGCCAATATTTTGATCTCTTTTAAAGGTAAAACCTATTTTACAAGGAGGTGCAAGTCATGATATAATTCTTGGGAGCCTGAGGTTCAGTCCTAGTTCTACCATTAATTAGCTCTTGCCCTATCCCCATTCTCTGAGCCTCAGTGGCTCCGGCTGTATCACAAAGGGGCCGGGTTATAGGGTATCTAAAGGTCTTTTCTCTCACGGTCTCCACAGACACATAATGTGAACGGGGCAGGGGACCTGGAGAGACACCTGGGAAGTCTAAATCCTAGCCCCCTTGATGTGGCTGGACAGATTGGAGACCAGGGTCCCCACCTGGAGGGTAGAAAGATGATGTCTCCTGGGAAGCTGTGAATCAATGGTCAACAATCACATTGCCCCTTCCCTCTATGCCCTGCCAGGCTCATCAACGAGAATGAAGTGAAACAGTGGCGAGACCAGGCAGAGAAGTTCCGGAAAGGTGAGGGGCTCTGCTTAAGCCTGCTGTCCACTCCACATGCCCTTCCCCTGCCCAGCCCATAACTCCATGCCCTTCCAGGCAGGGAGTCACATTACTCACATTCTCTCCTTCTGTTTCCTCTCCCGTCCCACCCCCATTCCAGAACACATGGAGCTTGTGAGCCGTCTGGAGAGGAAGGAGCGGGAATGCGAGACAAAGACATTGGAGAAGGAAGAGATGATGCGGACGCTGAACAAAATGAAGGACAAGCTGGCCCGGGAGTCCCAGGAGCTGCGCCAGGCTCGGGGACAAGTGGCAGAGCTGGTAGCCCAGCTCAGTGAACTCTCAGTATGCAAGCATCTCCCCCTTTACATAGTTGAGCCAAGACCCTGGGCTTCAGGACTGGGTGGGCAGAGCAGGTGTCGGAGAGGCCAAGGACCCCAGCATGAGGGAGAAGGGAGATGGAGACCTTGGGCCAGGATAGAAGAGACCCTTGAGGCTGTACAGGTGGCATCTTTGTGTTAGAAAAATAATGTCCCTTCCTCTGGGTGACACTGTGCCAGGAAGCACACCTTGGACAGCAGAGTGCAGCTGGAATTGGATCCACTTCCCTCTCTCAGCTGGAGATCTTGTGCAGTCAGTAACCTACACAACTGCATAGATCAGTCCTGCTGTTGCATTGTGATGGCTATGACTCTGATTGTCCAGTGTCCGTGTGCGTGACGTGTGTGTGTCTGTGGTGGTGGTGTGTGTGTGTTTGCGTGTGTTAGATGTTTGGATGCAGAGAGAGAAAATGGGGCCAAATGTGTGTAGAAGATAAGGGTAGGATTTGGGGCCTAGTATAGAAAGAAACTAGAAGGAGAGGAATCATGGTGGGAGACCTGAATGGCAACGGTGCTGATGGCTTTGTCCTTGCAATTTTTCTGTTTCCTCACAGACAGGCCCTGTATCTTCCCCACCACCCCCTGGGGGCCCACTCACCTTGTCTTCCTCAATGACAACCAATGACCTGCCTCCACCCCCTCCTCCTCTGCCCTTTGCCTGTTGTCCCCCTCCCCCACCACCACCCCTTCCTCCCGGGGGACCCCCGACTCCCCCAGGTGCCCCACCTTGCCTCGGCATGGGCCTGCCCCTCCCTCAGGACCCCTACCCCAGCAGTGACGTCCCACTCAGGAAAAAGCGTGTCCCCCAGCCTTCTCACCCACTGAAGTCCTTCAACTGGGTGAAGCTGAATGAGGTGAGCATCTGGGAAGGGGCTGGAGGGCCCATTCTTCTACAGCAGGGCAGTCAGCCTCAGGGACCACCCGCCCCTTGTTTACAGATCTCCACTCTGGGTCCTTTCTTTGGTGGGGGGTAAGGGCAGTCATGTGGATGTACAAAGTGGGTTTGCTGTGCCAGGCAGCTCACGGTCAGAACACCTACCCTGGGAGAGATGCTTGACATTGGGCAATGCTGACGTTGACAAAGTCATCTACAAATGGAATTTGTGTTTGCCCAGGGTTAATGGAGTCACAGCCAAGACAAACACTGAGTAGAATTCAAGGACAGGGTCCAGTTGAAGGAAAGGATGGAAAAATAAGCAAAGAGCTTGGGCCAGCATCTAGGTTTTGGTAAAGATCAGGACAATGTATACAAAGGACTAAAGAGTTTGATGGCAAGACATAGCTATTTTGGCATCTTCCTGGGGGAAGCTGCACACACTGGCCTCATGTCTGGACCAGCAGTGAGAGATCCTCATGAGTATTATCCACTAATAATCACCAATCCCAGAACCACAGGTAGGGCTTGATTCCTCTATGGGACTCCCATGAGCATAGAGTAGAGACGCCCTTGGTTGCATTAGACCTCTAGCAATCGAAGGCCAGTTCCAGCCTGGACCAAGGCCTGCCTCTGGTTCTGCACAATGGCAAGTCCTATTAGGAGGACTAGGAGCTTTGTCCTTGAAGTAAAGACCTGCATGGTAACTGGTTTCAGTTAGGTTGGCTCACTGGGATTTGAAGCTGGGATGAATGGATTCCACACTGACCTTTATCCCATGGGCCTGTTGGACTGGCTCTTGGGGAACTCATAACTGTACCATGTGTTTGAGCTTCAGTGAGCTCAAATGCAGAGTCAAGTGGGAAGAGATGCAAGATTGCTAAGTAGGTGGTCAGCTATCTGCCAGGGGTCTTCTCCTAATGGTAGACCAGCTAGCCTGTCAATCTGAAGTCTGCTTTTGTAAAGCTTTGTGCTGGGGGCTATGATGGATAGTAATAAAATGACATTGTCCTCTCAGAGCTTAGGATCTGCCAAATTAGGAAGCATGTTCAAAGAAACCCCTAGAGAGCCTGAGATGAGTTAAGGGTGAGGTTCTAACCAAACCAGGTGTAGCTTTAGCGGTACAACCTCTGTAAATCACTCAACTTGTCTGTAAGTCAGTTTGCTCATGTGTGAAATGATCTCAAAAATTCCCTCTGCCTCTGGCTTTATAATCTAGGTGGAAAGATGAAGCATAAACACAGTCCATTTGTAGTTTCCCGGGCCTCTGATAACATCTCCAATCTGAGTTACTTAAGCTTTAGAGCCACCTGTTAGCAGCATTCAAAGCAAGATTGTTGAGGTTGGTGACAGGTGCACTGCACAGTTGTGCCCTGTGGGTGCTCTGTGGCCATGAGGTGAGCCAGAAAGACAAACTGCACATGAGTAGGCCAACCGCTCTGCAGAACGTGCAGAAAGGTTCATTGTTCATGGTCAGAAAATAACATTTTGTATTGTGGTAAAAAGAGAAATAACATTCTGTCTCCTATTGTCACAATTTATAATGTAAGATTTTAAAGATGTAATAAAAAGTTATGCACATCAATAATGAAGGAAGACAGCTAAAGCAAGCAATATTTGTGCAACATTTTCATCATATGAAGCTGTGTGCTCAGGAGTTTCTCTGGGTCCAGTAATAGTAAGGTCTATACAGATTGCCCAGGGGCCCAGAGCAGGCCAGAGTTTCATTTCTAGACTGGAGAGTGTGGGTTTGTTGGAATAGACAGTGGGGGATATTTGGAGAAGTAGAGCAAGGTGAACGGTCTTTGAATAACATTTGAGAACTTATCACCCCAATGCCAAGCTTTTAATTGTGTGACGGGCAGGTTATGGAATCATTTGGACTTCAGGTTCCTTATCTGTAAGTGGGGCAATAATAATGTCCATC
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GTTCCAAGTAGGGCCCCAGTCTACCCTACCTCCCTCCCAACTTCAGGGAACATGAGTCAAAACTCTTGGGGAAGGCCCAAAGAAACCCCTTCCTTGGATGGTGGTGAAGGAGGTAGCATCTTGGGGATAACAGCAGTGGCCCTCTTCAAAGAAATGTCTTCATGAAATACTCTCCCTCTCCATACTCTGTTCTCTATGTCCTTGATGTGGCTGAAGAGGCCAAAAGTCATGGGTCTAACTCTTCCACATTCTCAGATTTATAAAGGAAAGGATTCTTGGGATCTCGCTTTGGGATTTCACCTCTGTTAGGCCTTGGTGTCAAGGTAAAAGCTAAATTTGAACACAGTTTCAAGAGCTTGGCATGAACAAGGCTGTCCTCTGTGTCACTCTGAACACATTCAGTCTGTATTGCTGGTGTGGGTGATGTCTCTTGCTCTTACGCATTGGTCTTTGGAAACCTGGACCATGGTAGGGCCAATATTTTGATCTCTTTTAAAGGTAAAACCTATTTTACAAGGAGGTGCAAGTCATGATATAATTCTTGGGAGCCTGAGGTTCAGTCCTAGTTCTACCATTAATTAGCTCTTGCCCTATCCCCATTCTCTGAGCCTCAGTGGCTCCGGCTGTATCACAAAGGGGCCGGGTTATAGGGTATCTAAAGGTCTTTTCTCTCACGGTCTCCACAGACACATAATGTGAACGGGGCAGGGGACCTGGAGAGACACCTGGGAAGTCTAAATCCTAGCCCCCTTGATGTGGCTGGACAGATTGGAGACCAGGGTCCCCACCTGGAGGGTAGAAAGATGATGTCTCCTGGGAAGCTGTGAATCAATGGTCAACAATCACATTGCCCCTTCCCTCTATGCCCTGCCAGGCTCATCAACGAGAATGAAGTGAAACAGTGGCGAGACCAGGCAGAGAAGTTCCGGAAAGGTGAGGGGCTCTGCTTAAGCCTGCTGTCCACTCCACATGCCCTTCCCCTGCCCAGCCCATAACTCCATGCCCTTCCAGGCAGGGAGTCACATTACTCACATTCTCTCCTTCTGTTTCCTCTCCCGTCCCACCCCCATTCCAGAACACATGGAGCTTGTGAGCCGTCTGGAGAGGAAGGAGCGGGAATGCGAGACAAAGACATTGGAGAAGGAAGAGATGATGCGGACGCTGAACAAAATGAAGGACAAGCTGGCCCGGGAGTCCCAGGAGCTGCGCCAGGCTCGGGGACAAGTGGCAGAGCTGGTAGCCCAGCTCAGTGAACTCTCAGTATGCAAGCATCTCCCCCTTTACATAGTTGAGCCAAGACCCTGGGCTTCAGGACTGGGTGGGCAGAGCAGGTGTCGGAGAGGCCAAGGACCCCAGCATGAGGGAGAAGGGAGATGGAGACCTTGGGCCAGGATAGAAGAGACCCTTGAGGCTGTACAGGTGGCATCTTTGTGTTAGAAAAATAATGTCCCTTCCTCTGGGTGACACTGTGCCAGGAAGCACACCTTGGACAGCAGAGTGCAGCTGGAATTGGATCCACTTCCCTCTCTCAGCTGGAGATCTTGTGCAGTCAGTAACCTACACAACTGCATAGATCAGTCCTGCTGTTGCATTGTGATGGCTATGACTCTGATTGTCCAGTGTCCGTGTGCGTGACGTGTGTGTGTCTGTGGTGGTGGTGTGTGTGTGTTTGCGTGTGTTAGATGTTTGGATGCAGAGAGAGAAAATGGGGCCAAATGTGTGTAGAAGATAAGGGTAGGATTTGGGGCCTAGTATAGAAAGAAACTAGAAGGAGAGGAATCATGGTGGGAGACCTGAATGGCAACGGTGCTGATGGCTTTGTCCTTGCAATTTTTCTGTTTCCTCACAGACAGGCCCTGTATCTTCCCCACCACCCCCTGGGGGCCCACTCACCTTGTCTTCCTCAATGACAACCAATGACCTGCCTCCACCCCCTCCTCCTCTGCCCTTTGCCTGTTGTCCCCCTCCCCCACCACCACCCCTTCCTCCCGGGGGACCCCCGACTCCCCCAGGTGCCCCACCTTGCCTCGGCATGGGCCTGCCCCTCCATCAGGACCCCTACCCCAGCAGTGACGTCCCACTCAGGAAAAAGCGTGTCCCCCAGCCTTCTCACCCACTGAAGTCCTTCAACTGGGTGAAGCTGAATGAGGTGAGCATCTGGGAAGGGGCTGGAGGGCCCATTCTTCTACAGCAGGGCAGTCAGCCTCAGGGACCACCCGCCCCTTGTTTACAGATCTCCACTCTGGGTCCTTTCTTTGGTGGGGGGTAAGGGCAGTCATGTGGATGTACAAAGTGGGTTTGCTGTGCCAGGCAGCTCACGGTCAGAACACCTACCCTGGGAGAGATGCTTGACATTGGGCAATGCTGACGTTGACAAAGTCATCTACAAATGGAATTTGTGTTTGCCCAGGGTTAATGGAGTCACAGCCAAGACAAACACTGAGTAGAATTCAAGGACAGGGTCCAGTTGAAGGAAAGGATGGAAAAATAAGCAAAGAGCTTGGGCCAGCATCTAGGTTTTGGTAAAGATCAGGACAATGTATACAAAGGACTAAAGAGTTTGATGGCAAGACATAGCTATTTTGGCATCTTCCTGGGGGAAGCTGCACACACTGGCCTCATGTCTGGACCAGCAGTGAGAGATCCTCATGAGTATTATCCACTAATAATCACCAATCCCAGAACCACAGGTAGGGCTTGATTCCTCTATGGGACTCCCATGAGCATAGAGTAGAGACGCCCTTGGTTGCATTAGACCTCTAGCAATCGAAGGCCAGTTCCAGCCTGGACCAAGGCCTGCCTCTGGTTCTGCACAATGGCAAGTCCTATTAGGAGGACTAGGAGCTTTGTCCTTGAAGTAAAGACCTGCATGGTAACTGGTTTCAGTTAGGTTGGCTCACTGGGATTTGAAGCTGGGATGAATGGATTCCACACTGACCTTTATCCCATGGGCCTGTTGGACTGGCTCTTGGGGAACTCATAACTGTACCATGTGTTTGAGCTTCAGTGAGCTCAAATGCAGAGTCAAGTGGGAAGAGATGCAAGATTGCTAAGTAGGTGGTCAGCTATCTGCCAGGGGTCTTCTCCTAATGGTAGACCAGCTAGCCTGTCAATCTGAAGTCTGCTTTTGTAAAGCTTTGTGCTGGGGGCTATGATGGATAGTAATAAAATGACATTGTCCTCTCAGAGCTTAGGATCTGCCAAATTAGGAAGCATGTTCAAAGAAACCCCTAGAGAGCCTGAGATGAGTTAAGGGTGAGGTTCTAACCAAACCAGGTGTAGCTTTAGCGGTACAACCTCTGTAAATCACTCAACTTGTCTGTAAGTCAGTTTGCTCATGTGTGAAATGATCTCAAAAATTCCCTCTGCCTCTGGCTTTATAATCTAGGTGGAAAGATGAAGCATAAACACAGTCCATTTGTAGTTTCCCGGGCCTCTGATAACATCTCCAATCTGAGTTACTTAAGCTTTAGAGCCACCTGTTAGCAGCATTCAAAGCAAGATTGTTGAGGTTGGTGACAGGTGCACTGCACAGTTGTGCCCTGTGGGTGCTCTGTGGCCATGAGGTGAGCCAGAAAGACAAACTGCACATGAGTAGGCCAACCGCTCTGCAGAACGTGCAGAAAGGTTCATTGTTCATGGTCAGAAAATAACATTTTGTATTGTGGTAAAAAGAGAAATAACATTCTGTCTCCTATTGTCACAATTTATAATGTAAGATTTTAAAGATGTAATAAAAAGTTATGCACATCAATAATGAAGGAAGACAGCTAAAGCAAGCAATATTTGTGCAACATTTTCATCATATGAAGCTGTGTGCTCAGGAGTTTCTCTGGGTCCAGTAATAGTAAGGTCTATACAGATTGCCCAGGGGCCCAGAGCAGGCCAGAGTTTCATTTCTAGACTGGAGAGTGTGGGTTTGTTGGAATAGACAGTGGGGGATATTTGGAGAAGTAGAGCAAGGTGAACGGTCTTTGAATAACATTTGAGAACTTATCACCCCAATGCCAAGCTTTTAATTGTGTGACGGGCAGGTTATGGAATCATTTGGACTTCAGGTTCCTTATCTGTAAGTGGGGCAATAATAATGTCCATC
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Task1_train_10269
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Chromosome 6 houses a mutation in gene DAAM2 (dishevelled associated activator of morphogenesis 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Nephrotic syndrome, type 24
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GTCTCAGTGCTCTAGAGAAAGAAAGATGGCAGGGTGGGCTGGCTGCTAATGTTAGCTCATAGTCTTTGCCATCCTTAGAACTTTGAGATGCAGGGTGTTCCCTCTTCCAAAGGGCTCAATGTCCTGTGAGTGACGAGGGGAGATGTGGTGACCCCTGCACCCGACTCTCATCTTGGCACCAGTCTAAGCAGCACTTCACCCTCCCTCCTCAGGAGCTGGAGTATCAGAGGCGCCAGGTACGGGAGCCCAGTGACAAGTTTGTCCCTGTCATGAGCGACTTCATCACGGTGTCCAGCTTCAGCTTCTCCGAGCTGGAGGACCAGCTAAATGAGGCCAGGGACAAGGTAAGGGTGCCCCAACCCCCACTGCTTGCCAACCCAGCCTTATCTAAACAAGCTCCTTCACCCATTCCTACCACAGACAGCCCAGGAGGGACAAACCCAGAGTTACAGAGCTTTGAGAGAAAACCGTTTCTTCGCTCTTAACAAGACAAGCAATGATAACCACATACCGCAAAGATCATGGTCCATTTATCAGATATCAGGCACCATGTTAAGTGTTTTAATGATTTGTCACCACCTACCTTATGGGTTTGTTGAAAGGTTATTTCCCACTTGACAGATATGAACGCTAAAATCAGAGATGCTAAGTAACTTGCCCAAGATTGCCCAGCTGTAAGTTATAGAACTGGGTTAGAATCTGACACCACAGCTCAGCAGTGGACATGATTACCATGCCTCTATCTGCTTCTCACACTAACGTGTCCATAGACCTCATGTATGGGGGTCTTATTAAAACATGGATTCTCATTTAGGAGGCCTGGGGTCTGAGATTCTGCATTTCTAACAGGAGGTGAATCTGCTGCTAGTCCATGAAGCACACTTTTGAGTAGTGAGATCTTTCTTAGAGGATACTGAGTGAGTTGAATTAACAATGGTAGCTCTCAGTAACTCAGAACAGTGCCTGGCCTATATAAATATAGCCACTGTTTTATAGCCACCAACTCATCTAACCCCCCAACACCACTATGATGTAGATTCTATTATTCCCATTTGACAGTGGAGGAAGCTGAGGCACAGAGGGGTTATTAACATAACTAGAGGATCTTTGAAGTTCTGAGTTCTGCCAGCCTCTTCCTGACCTCAGGAAGGGCTTCCCAAGGTCTATACCCCTGACCTCATGCCTACCCCTTACAGGCCCAGGGGTGGCTCTAAGGTGGACTGAGTGAGCCCAACTCTTTACCTGCCTCTCCTTAGCCTTGTCTCTGATCCTGATGATGATGGGGGTGTCTTCTCACCTCTTCCAGCCCTGCCCCCTGTGCCAACAGTCCCCAGCCTTGCGCTGGGCTCTGCTCTGGCTAGAACCCAGCTAACCTCAGGGGCTGAGCCCAGCATGCTCCAGGGCACTCTCCACCAATCCTGTTCTGTCCCTTGACAGTTCGCCAAGGCCTTGATGCACTTCGGGGAGCATGACAGCAAGATGCAGCCAGACGAATTCTTTGGCATCTTTGATACCTTCTTGCAGGCCTTCTCAGAGGCCCGGCAGGATCTAGAGGCCATGAGGAGGAGGAAGGAGGAGGAGGAGCGGCGGGCGCGCATGGAAGCCATGGTGAGGGGCAGTGCCAGGCCTGGGACTGAGGGGAGACGGGTGCTACTTGGGGAGAACACCCCCAAACTGGGGTGTGTGGGAGGAGGGCAGAGACTGAGGAACTGAGGAACACCATAGGGGTTGGATGTCAGCCCCAGGAGAGAGAAACTTCTTCCCAGCCTGAGGGAAGAGAGTGGTGTGAAGCTGGGGGCCTGTATGTCCTAGGCAGGAAGAAAGTGGGGCCAACAGATACAGGCAGGCAGCATGACCATGGCCTAGGAGTTAGCCCAGGGTTGGGGGGCTGCCCTGGCCTCAGCGCCTCTCCCTGAGAGGGTTCCTATCTTTGGCCCCCCGCCCGCAGCTGAAGGAGCAGAGGGAACGTGAGCGGTGGCAGCGGCAGCGGAAGGTCCTGGCTGCAGGCAGCTCGCTGGAGGAGGGAGGAGAGTTCGATGACCTGGTGTCGGCCCTGCGCTCTGGGGAGGTCTTCGACAAGGACTTATGCAAGCTCAAGCGCAGCCGCAAGCGATCAGGGAGCCAGGCCCTGGAAGTTACCCGGGAGCGGGCAATAAACCGGCTAAATTATTGACCTGGGGAACTAGCCACACAGGAGGCCGGGAGACAGGGACTGGTGAGAATGGGGCTGAGTGGAGGAGGTGGTGATATTTAAACCATTTGGTGCTTGGTTTAGAGCCTTGGGCTGGGTCCTGGGATGGGGGGCTGTGTGTGGCTGGACCAGGTGTCTCCCCACGCTTACCTTAAGGGGCTCCTCTTATCTCCCCTTCACATGATTCCTTCTGTGCCCTGGCCCCAGGTATTATTCTGAGGCTGCCTTGGATGGCCTCAGGCCAGGTAACCCCAGGCTGAAGGGGCCCTGCTCCCCATCCCCTACCATGGGCACCCATGTGCTGGCACAGAACAGTTCCAGATCTAGACTGGAGAGGTCCACAGCCTTGTCCAGAGTTCCTGTGTAGCACGGGGAGCAATGATGGAGGGAGCCCCTGAGAGGGAATCTGGTGAGGGAATCCAGACTCCCTTCTCTCAAGGGGAGGCTCAACAGAACATTGACCTGGGGGCAAACTTTCCTCTTGAATGGGAACAGAGGAGGCATTATATATTCTAGTTAGATCAGCTCTGGTAGGTTCCAGAGAACAGTCAATGTTGGAAGGATGATGCAGGGACCAAAGCCATCAGGACAGAGTAGCAGTGTCTGTTTCCCATGTCACAAGTCCTCTGGCCTCTCCCTGCATGTCTTAAGTATCTTTCCCTTCCTTCTCTACCCTCACCTCCATCCTGTCTACTAATCCACAGTCCTAGAAGACTCACCTTGGGTTTCCACAGCTATGGCTCACTACCAGGTGCTTGATGAATCTGGCGAGGGGCTCAAGACAGACCTCATGCATCACCACACCTCATGCCTTTTGGGCATCTCCCATGTCCCCATCTCCTGGACACCTGGCCATTGTTGTGAAGCCAGACAGTGACCTCAAATGTTGCCTTGGAGTCCCCTACAGCCCCTCAGCAGAGGGCAGCACTTGAATGCTTAGCTCCATCCCATAGTTCTCTACTTCATATAAATTGCTCAGGCCCTCCCACCCCTTCTCTAACACTAGCTTCAAGGCAGAAGCCACAGCAGCCTCTGTCCAGCCTGCAGGTGGCCACTTGGAACCATGTGTCCACTGGCGTTGGGGAGTTGGTTCCTGAGAGGTCTGAGGGCCAGAGCTGCCCTCTACATTAACATGCTGTCTCTAAGGGTGGCCCCTCCTCTCAGGCGTTCAGATGGTGCGAACAGCAGAGCAGGCAAGGGAAACTGGGGAGATGGGGATGGAGGAGGAAGGCTGATATCCTCTGGGGAGCACATCACCTGAAGGTGCCAAGGAGGAAGGCTGAGAGGGGGGCCACCCCATTTCTGGTACCCAATTTGGTTCTTCAGCCCAACTTGCAAGGGGTTCCTTCTGGTCCTCCCATCCACTGCCACCTTCCATTTTGTCCATCTCATGCTGGCCTTGGTGGATGGGATGGCTGTATCTAGACAAAATTTTTCTAAAACTCCATCAAGGCTCTTATTCAATACCACGTTCCGAGTTGGCCTTTCATCTTCTTTGAGACTGGCCCTGCCTAACCTCTACCATCAATGAGCTCTTGGCCCTTCTGCCCTTCCCTGTGTTTCTCACTTTCCAACCTAATCCCTGGCTCAGGGTTATTGCCAGTGGAGACTGGTGAGCTGGGCCTACTCTCAGCTGCCTATCTTCTGCCTTTCACTTGCATCCAACTCCTGGGGCTGGGACCGTAGTAGCTGCGGGGGGGAAGAAACACAGGGTCGGTGAGCCCAGCATGTGCGTTGGTTTGAGGGGGCGGGCGGTGTGTGTGTGTTCTGGTGGGAGGGATCTGAGCAAGTGCAAGCCTGGCTGACACAGGTGTGAAGAGGCCATCCTGGAACCCAGGTGAGGGCAAGATGAAGGCTTCCAGGCAGAACAGCTGCAGAGAGTTTGGCTATATGCATCTGCAGCCC
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GTCTCAGTGCTCTAGAGAAAGAAAGATGGCAGGGTGGGCTGGCTGCTAATGTTAGCTCATAGTCTTTGCCATCCTTAGAACTTTGAGATGCAGGGTGTTCCCTCTTCCAAAGGGCTCAATGTCCTGTGAGTGACGAGGGGAGATGTGGTGACCCCTGCACCCGACTCTCATCTTGGCACCAGTCTAAGCAGCACTTCACCCTCCCTCCTCAGGAGCTGGAGTATCAGAGGCGCCAGGTACGGGAGCCCAGTGACAAGTTTGTCCCTGTCATGAGCGACTTCATCACGGTGTCCAGCTTCAGCTTCTCCGAGCTGGAGGACCAGCTAAATGAGGCCAGGGACAAGGTAAGGGTGCCCCAACCCCCACTGCTTGCCAACCCAGCCTTATCTAAACAAGCTCCTTCACCCATTCCTACCACAGACAGCCCAGGAGGGACAAACCCAGAGTTACAGAGCTTTGAGAGAAAACCGTTTCTTCGCTCTTAACAAGACAAGCAATGATAACCACATACCGCAAAGATCATGGTCCATTTATCAGATATCAGGCACCATGTTAAGTGTTTTAATGATTTGTCACCACCTACCTTATGGGTTTGTTGAAAGGTTATTTCCCACTTGACAGATATGAACGCTAAAATCAGAGATGCTAAGTAACTTGCCCAAGATTGCCCAGCTGTAAGTTATAGAACTGGGTTAGAATCTGACACCACAGCTCAGCAGTGGACATGATTACCATGCCTCTATCTGCTTCTCACACTAACGTGTCCATAGACCTCATGTATGGGGGTCTTATTAAAACATGGATTCTCATTTAGGAGGCCTGGGGTCTGAGATTCTGCATTTCTAACAGGAGGTGAATCTGCTGCTAGTCCATGAAGCACACTTTTGAGTAGTGAGATCTTTCTTAGAGGATACTGAGTGAGTTGAATTAACAATGGTAGCTCTCAGTAACTCAGAACAGTGCCTGGCCTATATAAATATAGCCACTGTTTTATAGCCACCAACTCATCTAACCCCCCAACACCACTATGATGTAGATTCTATTATTCCCATTTGACAGTGGAGGAAGCTGAGGCACAGAGGGGTTATTAACATAACTAGAGGATCTTTGAAGTTCTGAGTTCTGCCAGCCTCTTCCTGACCTCAGGAAGGGCTTCCCAAGGTCTATACCCCTGACCTCATGCCTACCCCTTACAGGCCCAGGGGTGGCTCTAAGGTGGACTGAGTGAGCCCAACTCTTTACCTGCCTCTCCTTAGCCTTGTCTCTGATCCTGATGATGATGGGGGTGTCTTCTCACCTCTTCCAGCCCTGCCCCCTGTGCCAACAGTCCCCAGCCTTGCGCTGGGCTCTGCTCTGGCTAGAACCCAGCTAACCTCAGGGGCTGAGCCCAGCATGCTCCAGGGCACTCTCCACCAATCCTGTTCTGTCCCTTGACAGTTCGCCAAGGCCTTGATGCACTTCGGGGAGCATGACAGCAAGATGCAGCCAGACGAATTCTTTGGCATCTTTGATACCTTCTTGCAGGCCTTCTCAGAGGCCCGGCAGGATCTAGAGGCCATGAGGAGGAGGAAGGAGGAGGAGGAGCGGCGGGCGCGCATGGAAGCCATGGTGAGGGGCAGTGCCAGGCCTGGGACTGAGGGGAGACGGGTGCTACTTGGGGAGAACACCCCCAAACTGGGGTGTGTGGGAGGAGGGCAGAGACTGAGGAACTGAGGAACACCATAGGGGTTGGATGTCAGCCCCAGGAGAGAGAAACTTCTTCCCAGCCTGAGGGAAGAGAGTGGTGTGAAGCTGGGGGCCTGTATGTCCTAGGCAGGAAGAAAGTGGGGCCAACAGATACAGGCAGGCAGCATGACCATGGCCTAGGAGTTAGCCCAGGGTTGGGGGGCTGCCCTGGCCTCAGCGCCTCTCCCTGAGAGGGTTCCTATCTTTGGCCCCCCGCCCGCAGCTGAAGGAGCAGAGGGAACGTGAGCGGTGGCAGCGGCAGCGGAAGGTCCTGGCTGCAGGCAGCTCGCTGGAGGAGGGAGGAGAGTTCGATGACCTGGTGTTGGCCCTGCGCTCTGGGGAGGTCTTCGACAAGGACTTATGCAAGCTCAAGCGCAGCCGCAAGCGATCAGGGAGCCAGGCCCTGGAAGTTACCCGGGAGCGGGCAATAAACCGGCTAAATTATTGACCTGGGGAACTAGCCACACAGGAGGCCGGGAGACAGGGACTGGTGAGAATGGGGCTGAGTGGAGGAGGTGGTGATATTTAAACCATTTGGTGCTTGGTTTAGAGCCTTGGGCTGGGTCCTGGGATGGGGGGCTGTGTGTGGCTGGACCAGGTGTCTCCCCACGCTTACCTTAAGGGGCTCCTCTTATCTCCCCTTCACATGATTCCTTCTGTGCCCTGGCCCCAGGTATTATTCTGAGGCTGCCTTGGATGGCCTCAGGCCAGGTAACCCCAGGCTGAAGGGGCCCTGCTCCCCATCCCCTACCATGGGCACCCATGTGCTGGCACAGAACAGTTCCAGATCTAGACTGGAGAGGTCCACAGCCTTGTCCAGAGTTCCTGTGTAGCACGGGGAGCAATGATGGAGGGAGCCCCTGAGAGGGAATCTGGTGAGGGAATCCAGACTCCCTTCTCTCAAGGGGAGGCTCAACAGAACATTGACCTGGGGGCAAACTTTCCTCTTGAATGGGAACAGAGGAGGCATTATATATTCTAGTTAGATCAGCTCTGGTAGGTTCCAGAGAACAGTCAATGTTGGAAGGATGATGCAGGGACCAAAGCCATCAGGACAGAGTAGCAGTGTCTGTTTCCCATGTCACAAGTCCTCTGGCCTCTCCCTGCATGTCTTAAGTATCTTTCCCTTCCTTCTCTACCCTCACCTCCATCCTGTCTACTAATCCACAGTCCTAGAAGACTCACCTTGGGTTTCCACAGCTATGGCTCACTACCAGGTGCTTGATGAATCTGGCGAGGGGCTCAAGACAGACCTCATGCATCACCACACCTCATGCCTTTTGGGCATCTCCCATGTCCCCATCTCCTGGACACCTGGCCATTGTTGTGAAGCCAGACAGTGACCTCAAATGTTGCCTTGGAGTCCCCTACAGCCCCTCAGCAGAGGGCAGCACTTGAATGCTTAGCTCCATCCCATAGTTCTCTACTTCATATAAATTGCTCAGGCCCTCCCACCCCTTCTCTAACACTAGCTTCAAGGCAGAAGCCACAGCAGCCTCTGTCCAGCCTGCAGGTGGCCACTTGGAACCATGTGTCCACTGGCGTTGGGGAGTTGGTTCCTGAGAGGTCTGAGGGCCAGAGCTGCCCTCTACATTAACATGCTGTCTCTAAGGGTGGCCCCTCCTCTCAGGCGTTCAGATGGTGCGAACAGCAGAGCAGGCAAGGGAAACTGGGGAGATGGGGATGGAGGAGGAAGGCTGATATCCTCTGGGGAGCACATCACCTGAAGGTGCCAAGGAGGAAGGCTGAGAGGGGGGCCACCCCATTTCTGGTACCCAATTTGGTTCTTCAGCCCAACTTGCAAGGGGTTCCTTCTGGTCCTCCCATCCACTGCCACCTTCCATTTTGTCCATCTCATGCTGGCCTTGGTGGATGGGATGGCTGTATCTAGACAAAATTTTTCTAAAACTCCATCAAGGCTCTTATTCAATACCACGTTCCGAGTTGGCCTTTCATCTTCTTTGAGACTGGCCCTGCCTAACCTCTACCATCAATGAGCTCTTGGCCCTTCTGCCCTTCCCTGTGTTTCTCACTTTCCAACCTAATCCCTGGCTCAGGGTTATTGCCAGTGGAGACTGGTGAGCTGGGCCTACTCTCAGCTGCCTATCTTCTGCCTTTCACTTGCATCCAACTCCTGGGGCTGGGACCGTAGTAGCTGCGGGGGGGAAGAAACACAGGGTCGGTGAGCCCAGCATGTGCGTTGGTTTGAGGGGGCGGGCGGTGTGTGTGTGTTCTGGTGGGAGGGATCTGAGCAAGTGCAAGCCTGGCTGACACAGGTGTGAAGAGGCCATCCTGGAACCCAGGTGAGGGCAAGATGAAGGCTTCCAGGCAGAACAGCTGCAGAGAGTTTGGCTATATGCATCTGCAGCCC
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Task1_train_10270
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Consider this mutation in MOCS1 (molybdenum cofactor synthesis 1) on Chromosome 6. Is this a benign change or a disease-causing variant?
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Pathogenic; Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
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CCACCTGGCTGGAGAAACTCATTCTGGGTCTTAGACCCTGAACATGGAGCGGGTCCCAGGAGAAAATGCTTGGATTGGCTGGTGGGGAATTGGGGAACATCAAAAATAACTCTGCAAGGCAAGAAGAAAAGAGAAGAAACACTAAGTCCAAAAGGCAATTCTTTTTCCCACCTCTACTCCCCAACCCTCTCCCTATCCCACCTCAAGTTCTCTTTCATACCGGGGAAAGAGGAATGAAGAACAAAAAGCATAGTGGGACAAGACAAAGTAGAAGATCCACAGATAGATGGCACCCAGAGTCCAAGTTCACAGCCCTTCTCACCCAGTGATGTACAGGGTAACAGCCCTCCTAGAAACTGCTGTGCCACCGTGGCACAGGGTTCCCTCCACATGAAAACCTTCTCAATTCCCAAGTTCTCTCAAGCAGCACCAAGTTGAGGCCTGGATCACATGACCTCTGAATGTCCCTTCATTTTCTTAAAACTAGAGCTAGGTCTCACTCTAAATTACCAATTACACCTATTTTTATCTTCACATTCTCCATGAAGAGTTAATATAACCACTTAGTTTACAGACAAGATAATAAGGGGAATTTGTGATCTACTTAAATGTTTTTCAAGTCCCCTGAAGCACATGAGAAGCACATACAAACTGACGGGCTAATTCAGATGGTGCAGAGGGCCTAGGGAATGGTGCAGGCTCTTGTTACTCAAAGGGTGGTTGGCTTATGGACCAGCAGCACCAGCAGCACCAGCACCACCTGAGAACTCACAAGAGATGCAGAATCCCACCCCAGACCTTCCAAGTCAATCCAAAAGGACAAAATCCCCAGTGATTCACATGCACATGAAATTCTGAGAGGCCCTGTCCTAGGCAACTCTTGGTTGTATAGAAAGCAGACTGGTTACTCAATATCTCTGAAAGTATGAGGCAAATGCTCCCCCAGCTTCCCACTTCGCATCATACTCTAAGCCCCAGACATGTCAATGTCAGAGGGGCAGCCTCCCTTCTGGGGAGATGCCATCAAGGCCATGAAGGTGCCTCAGCATGGGTCAGGGCCCAACAAGAGGACTTGGATGCTGGGGGTGGGAGGAGAGGAGATGAGAGTCTTCTTCCCAGTGGCAAGCTACCTTTGCTTTCCCGGGCAGCCAGTGGGCAAAGATGGTCCTTGGGCTGTCTCTAGCCTGCCTTCCCCTCTGGGCCACTGAGTTCCCTCTGCTCTAACCTCTAAAGAAAGGATCTTTCCTCTCATCTTTTCTCCCCCCTGCTTTTTCTTTCCTAGTGGCACAGTTCAGGGGGCTCAGAACTGACTGCGAGCAAAGGGTCAAGGCCTCACCTGCTATAATCTGGGCACCGTGACAGAGGGGCAACAGCCACCCTACAGCTCCTCAGTGACCAGCCCAGCCCCCAGGGGTAGGAGACCACATAAGGACTTAAAACCAGGGGGCTTTTGTTTGAAGCATCCTACACACACGATGATACATCCTATGCAGATGTTCCTGAGAGTTAAGGAATTGGGAAGTTGAGGTCTTGGCCATCATTACCTCATGTTACATGTGAGTAACATTATTAACTTGCTGCCTCAAGATCTGCCCAGCACAGACGTCTGGCCACACATCCACCCGTGGGGGCTCATGGTCCAGATACACCGTGCATGGATCATTGGGTACTACAGAGGACACCTGTCACATTATCCAAATGGGAGATTTTAGAGCCGAGGAAAAGGCCTCTGTTTTAACCAGGATTTCAATTCTCAGGGAGCCACTAACTTAGTGATCATTAAATCTGGCAGACCATCCCCCTGCTCTGATGTCTGGTGAGACAGAAGGATCATTTCTGTGGCAGGTATAGTAAGGGGGATCATGAACAGTGGGGGAAGAAACAGTAAAACCTTGAAGGTTAAGAAGAGATGAAGGAGGAATAGAAGAAAAACAAGGATGAGAAATCAGCATGAAATGCAGGAGCTGGGGGTGCCTATGGCACGGCTCCCACCCCACGAGATCCCCAAATGACAAGGGTGAGTGGTTACGTACTGATGGGTCACCCACCGATGAGGATCATGGGCCGGTTCTTCATCTGGGAAATACTGAACATGCCTGGGGTGAGGGAAAGATGGGGAGGGAGAGGAAAGCAGGGGAGGGGGAGAGGGAGAGGAAAGCAGGGGAGGGGGAGAGGGAGAGGAAAGCAGGGGAAGGGGAGAGGGAGAGGAAAGCAGGGGAGGGGGAGGGGAGAGGGAGAGGAAAGCAGGGGAGGGGGAGGGGGAGAGGGAGAGGAAAGCAGGGGAGGGGGAGGGGGAGAGGGAGAGGAAAGCAGGGGAAGGGGAGAGGGAGAGGAAAGCAGGGGAGCGGGAGAGGGACAGGGCGGGGAGAGGAGAGTTCACTGAAACAAACGCGCTTGACAGCCCCGAGCACATGCACTCAGCTGTATGACAAAAGGCCCCCACATGTGCACTGCGAGGTCGCTCAAGGCTGAGCCCAAAGAACAGTCTGTGGACATCAGGACCCTGCCCTCCCTAAACAGAAGGCCACGTGTGGGATGAGAAAGAAGCAATGACACCCCCTTCTCCCCACCTAGTAAAACAGCCCAAGAGAATCTGGGGTCCCCTCTCCTGTGCAGCCTCTGCTATGACTTTTCCCCATGGAAGGAGAAGCATCACTGTACCCTGAGTCCAGAGGGCCAACAGCAGTGAGTGGTAGTGGGGATGATGCTGACTCTCGCCAGCTTCCCCCTAGGTGTTCCTTGGTCATCTCACCCCACAACTCCACACCTCCCTCCCAGGGACAAGGCCCACTCACCATCCAGGCCAGCCCTCCCCACCCTGCACTTACCTGCATGCTGCCGCTTCTTCCTGCCCACAGCAGCCCCAATGATTCTCAGCAGCTCCTGCTCAGAGGCCCCAGCTCGCAGGTGATCCCGCAGGGATACCTCAGAGTTTCCAAAGAGGCAGACCTACATGTGGGTGAGGACAATATGCCTTCCTTACCCCTGAGCCTTGGCCTCCTGGCCTCTGAGGAGCTAACTCCTTCCCTGGTTCTCCCTCCGGGAGGAGCACCAGGGCCCAGGCCTCCCATGGCAGGGCCCCTAGCAGTGAGAGACAGAGGTGCTGTAGGGAGGTCAGAGAGGCTAGAAGAGCAAGAGGCAAAATTCGACTTCCCAATACCTATATGTGAGTTACAGTCATACTTCCCTCAGTGTATTTTTAAAAAACTAAGTAGATGCCAACAGAGATAGCATGTAAAAATCCAGATCTCTACCTTCTGAGACACTTGCTGGAATGGCCACTTTATCACCATGAGAATGGCCCCCAACCAGTTGGAGCTGTGTGTGTCCTGGAAGTCTCCTACCCCTGTTGTGGCACACACATCCCATTTCACCTCAGCCCCTCCAAGTCCCTTGTGGACATCACCTGACTGCCCTGTACCTATTTGAGTCTGTGATCACTGCTTGGAAGCTTCAGCTGAGGGCTGCTGGGCATGACAACTTAAGGTCAAACTTCACTCAATGCTTCTCAGCTTCTGTAAGAGGGATGGATGAGACAGCCCCAGAAATCAATATACCTACCATCCTTCCACCAAAACTTATGAAGCATCTACTCTGTGCCAGCTCTGCACAAGGCACTGTGGCCACAGAGAAAGAAGAATGTCTGAGAAGCTTCTGCAGGCAGAGACCACTGGAGAAGATACCAGTGAAATCTAGGATAGGTCTAACTGCTTCAGCGTGCCTGTTATTCCTCATGCCTCGCTCCCCAACCAGCCTCCAGGTTCCCTTCTCTGCAACAAAGAGGTTCCTCCTGTGGACTTCACCTGGTACCACCCTCCCCTCCCGCCCCCCAGCTGGCTCCTGCCTGGGAGATCAATGGGTAAAGGGAAAGAACAATCTTCAGGCATTTCTCCCCTACTTCCTCCCTGCTTTGATGTATCTGGCAGCAGCTGCTTCTCTGCACAGCTCAAGTGCCAATGAGGTGGCCTCTCTTCTAAGGCTCCAGCCCTTCCTGGGCCCCAGTGACATCAGTGCCTCCCCCTTGCCCTTCCTAAGTGGGAACAGCACTTTGCTGCTGCTGGTCCCAAGTACCTCAATATCCTTTATTGGTTCCCTT
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CCACCTGGCTGGAGAAACTCATTCTGGGTCTTAGACCCTGAACATGGAGCGGGTCCCAGGAGAAAATGCTTGGATTGGCTGGTGGGGAATTGGGGAACATCAAAAATAACTCTGCAAGGCAAGAAGAAAAGAGAAGAAACACTAAGTCCAAAAGGCAATTCTTTTTCCCACCTCTACTCCCCAACCCTCTCCCTATCCCACCTCAAGTTCTCTTTCATACCGGGGAAAGAGGAATGAAGAACAAAAAGCATAGTGGGACAAGACAAAGTAGAAGATCCACAGATAGATGGCACCCAGAGTCCAAGTTCACAGCCCTTCTCACCCAGTGATGTACAGGGTAACAGCCCTCCTAGAAACTGCTGTGCCACCGTGGCACAGGGTTCCCTCCACATGAAAACCTTCTCAATTCCCAAGTTCTCTCAAGCAGCACCAAGTTGAGGCCTGGATCACATGACCTCTGAATGTCCCTTCATTTTCTTAAAACTAGAGCTAGGTCTCACTCTAAATTACCAATTACACCTATTTTTATCTTCACATTCTCCATGAAGAGTTAATATAACCACTTAGTTTACAGACAAGATAATAAGGGGAATTTGTGATCTACTTAAATGTTTTTCAAGTCCCCTGAAGCACATGAGAAGCACATACAAACTGACGGGCTAATTCAGATGGTGCAGAGGGCCTAGGGAATGGTGCAGGCTCTTGTTACTCAAAGGGTGGTTGGCTTATGGACCAGCAGCACCAGCAGCACCAGCACCACCTGAGAACTCACAAGAGATGCAGAATCCCACCCCAGACCTTCCAAGTCAATCCAAAAGGACAAAATCCCCAGTGATTCACATGCACATGAAATTCTGAGAGGCCCTGTCCTAGGCAACTCTTGGTTGTATAGAAAGCAGACTGGTTACTCAATATCTCTGAAAGTATGAGGCAAATGCTCCCCCAGCTTCCCACTTCGCATCATACTCTAAGCCCCAGACATGTCAATGTCAGAGGGGCAGCCTCCCTTCTGGGGAGATGCCATCAAGGCCATGAAGGTGCCTCAGCATGGGTCAGGGCCCAACAAGAGGACTTGGATGCTGGGGGTGGGAGGAGAGGAGATGAGAGTCTTCTTCCCAGTGGCAAGCTACCTTTGCTTTCCCGGGCAGCCAGTGGGCAAAGATGGTCCTTGGGCTGTCTCTAGCCTGCCTTCCCCTCTGGGCCACTGAGTTCCCTCTGCTCTAACCTCTAAAGAAAGGATCTTTCCTCTCATCTTTTCTCCCCCCTGCTTTTTCTTTCCTAGTGGCACAGTTCAGGGGGCTCAGAACTGACTGCGAGCAAAGGGTCAAGGCCTCACCTGCTATAATCTGGGCACCGTGACAGAGGGGCAACAGCCACCCTACAGCTCCTCAGTGACCAGCCCAGCCCCCAGGGGTAGGAGACCACATAAGGACTTAAAACCAGGGGGCTTTTGTTTGAAGCATCCTACACACACGATGATACATCCTATGCAGATGTTCCTGAGAGTTAAGGAATTGGGAAGTTGAGGTCTTGGCCATCATTACCTCATGTTACATGTGAGTAACATTATTAACTTGCTGCCTCAAGATCTGCCCAGCACAGACGTCTGGCCACACATCCACCCGTGGGGGCTCATGGTCCAGATACACCGTGCATGGATCATTGGGTACTACAGAGGACACCTGTCACATTATCCAAATGGGAGATTTTAGAGCCGAGGAAAAGGCCTCTGTTTTAACCAGGATTTCAATTCTCAGGGAGCCACTAACTTAGTGATCATTAAATCTGGCAGACCATCCCCCTGCTCTGATGTCTGGTGAGACAGAAGGATCATTTCTGTGGCAGGTATAGTAAGGGGGATCATGAACAGTGGGGGAAGAAACAGTAAAACCTTGAAGGTTAAGAAGAGATGAAGGAGGAATAGAAGAAAAACAAGGATGAGAAATCAGCATGAAATGCAGGAGCTGGGGGTGCCTATGGCACGGCTCCCACCCCACGAGATCCCCAAATGACAAGGGTGAGTGGTTACGTACTGATGGGTCACCCACAGATGAGGATCATGGGCCGGTTCTTCATCTGGGAAATACTGAACATGCCTGGGGTGAGGGAAAGATGGGGAGGGAGAGGAAAGCAGGGGAGGGGGAGAGGGAGAGGAAAGCAGGGGAGGGGGAGAGGGAGAGGAAAGCAGGGGAAGGGGAGAGGGAGAGGAAAGCAGGGGAGGGGGAGGGGAGAGGGAGAGGAAAGCAGGGGAGGGGGAGGGGGAGAGGGAGAGGAAAGCAGGGGAGGGGGAGGGGGAGAGGGAGAGGAAAGCAGGGGAAGGGGAGAGGGAGAGGAAAGCAGGGGAGCGGGAGAGGGACAGGGCGGGGAGAGGAGAGTTCACTGAAACAAACGCGCTTGACAGCCCCGAGCACATGCACTCAGCTGTATGACAAAAGGCCCCCACATGTGCACTGCGAGGTCGCTCAAGGCTGAGCCCAAAGAACAGTCTGTGGACATCAGGACCCTGCCCTCCCTAAACAGAAGGCCACGTGTGGGATGAGAAAGAAGCAATGACACCCCCTTCTCCCCACCTAGTAAAACAGCCCAAGAGAATCTGGGGTCCCCTCTCCTGTGCAGCCTCTGCTATGACTTTTCCCCATGGAAGGAGAAGCATCACTGTACCCTGAGTCCAGAGGGCCAACAGCAGTGAGTGGTAGTGGGGATGATGCTGACTCTCGCCAGCTTCCCCCTAGGTGTTCCTTGGTCATCTCACCCCACAACTCCACACCTCCCTCCCAGGGACAAGGCCCACTCACCATCCAGGCCAGCCCTCCCCACCCTGCACTTACCTGCATGCTGCCGCTTCTTCCTGCCCACAGCAGCCCCAATGATTCTCAGCAGCTCCTGCTCAGAGGCCCCAGCTCGCAGGTGATCCCGCAGGGATACCTCAGAGTTTCCAAAGAGGCAGACCTACATGTGGGTGAGGACAATATGCCTTCCTTACCCCTGAGCCTTGGCCTCCTGGCCTCTGAGGAGCTAACTCCTTCCCTGGTTCTCCCTCCGGGAGGAGCACCAGGGCCCAGGCCTCCCATGGCAGGGCCCCTAGCAGTGAGAGACAGAGGTGCTGTAGGGAGGTCAGAGAGGCTAGAAGAGCAAGAGGCAAAATTCGACTTCCCAATACCTATATGTGAGTTACAGTCATACTTCCCTCAGTGTATTTTTAAAAAACTAAGTAGATGCCAACAGAGATAGCATGTAAAAATCCAGATCTCTACCTTCTGAGACACTTGCTGGAATGGCCACTTTATCACCATGAGAATGGCCCCCAACCAGTTGGAGCTGTGTGTGTCCTGGAAGTCTCCTACCCCTGTTGTGGCACACACATCCCATTTCACCTCAGCCCCTCCAAGTCCCTTGTGGACATCACCTGACTGCCCTGTACCTATTTGAGTCTGTGATCACTGCTTGGAAGCTTCAGCTGAGGGCTGCTGGGCATGACAACTTAAGGTCAAACTTCACTCAATGCTTCTCAGCTTCTGTAAGAGGGATGGATGAGACAGCCCCAGAAATCAATATACCTACCATCCTTCCACCAAAACTTATGAAGCATCTACTCTGTGCCAGCTCTGCACAAGGCACTGTGGCCACAGAGAAAGAAGAATGTCTGAGAAGCTTCTGCAGGCAGAGACCACTGGAGAAGATACCAGTGAAATCTAGGATAGGTCTAACTGCTTCAGCGTGCCTGTTATTCCTCATGCCTCGCTCCCCAACCAGCCTCCAGGTTCCCTTCTCTGCAACAAAGAGGTTCCTCCTGTGGACTTCACCTGGTACCACCCTCCCCTCCCGCCCCCCAGCTGGCTCCTGCCTGGGAGATCAATGGGTAAAGGGAAAGAACAATCTTCAGGCATTTCTCCCCTACTTCCTCCCTGCTTTGATGTATCTGGCAGCAGCTGCTTCTCTGCACAGCTCAAGTGCCAATGAGGTGGCCTCTCTTCTAAGGCTCCAGCCCTTCCTGGGCCCCAGTGACATCAGTGCCTCCCCCTTGCCCTTCCTAAGTGGGAACAGCACTTTGCTGCTGCTGGTCCCAAGTACCTCAATATCCTTTATTGGTTCCCTT
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Task1_train_10271
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A variant on Chromosome 6 in gene TREM2 (triggering receptor expressed on myeloid cells 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
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AACTGATTCTGGTCCTACCAATGAAGCAGAGATCTGGGGGTCTTAGCTTTGTACTAAAGTACTAAAACATTCATTGTTGCTGAATTATGGGGATGTCTGGGGGCTGCCAGGGGAGGGGCGGGAGCTGATATTCAGGAGTCGTAGAGCAACTGCTCTTTACAAAGCATTATGGAAGTCTTCCAATAAATGAACAACTGACACAGTCACGCTAACTAACTAACATGTAGCAGCTGGTGGAGGGGTGTTTACATAAGAGATATCCAGGGCCCTTCAGGCTCTAGTTGCCTTGTAATTTGTAGTTCAGGATGCCCAGCCCCCACCCCCGTGGGGCTCTGCAGGGTGGAAGTCTGCCCACGGGTTTTAGGAAAGACCCATCGCTGTACCTGGAGATGCTGTGCTCCACATGGGCATCCTCGAAGCTCTCAGACTCCCCGGGGAACCAGAGATCTCCAGCATCCCGGTGATCCAGGGGGTCTATGGGAGGCAGAGCCATGAGCCTCCAGCCCCTTCCTCCTCGAGGCAGGGGGAGAACCTTGGCGGGAGAACCTTTATGGGTGGGGTGAGGTCCCCTGGGCACTGGTCCTATGTGGATCAGGTCATTACACTCCATAAGCCTCAGTTTCCCCACTTATAAAGTGGGCCGTTAGGAACACTTCCTTAATAGCAGGGTTGCCAGGATTCCGTGAGGGCACCTCTGTGCCGTATCCAGCACCTCATCGGAGCTCAGTAACTGCAATGCCCCCCTCCTTCCGCACAGGGGCTAAGAAGAGCAAATACAATCGTGGATGTACTTGAAAATCCTATCTAAACTGTCAAGCTGTCTACACAAGCTATGGGCTACTTTTATTTTTCTGTCTCCCTCTTGGGAGGTGGCTAAGGGAGTTCACTGCCACCGGCCATCCTTAGGAAAGTGGTGGAGGTGGGGTTTGTGTCTATGACTGGCAGTCTCCCCTGGCCTCCCCAAGTCAGGCAAATACTACTCCTGACCTCATTTCCATGGTAAAGAGCCATACTGGGAGAAGGGGTTGGAAAGGAGGAGAGTCAGAAAAGGCCTTTGTAGCCCCAGATTTGTTCTCCTTTGGGGACACAGTTGTGTTCTGCAGACTCAAGCAGAAGGCCTTCCTGGAGGGTGGTCCCTGCGCAGAGCTCGGGGGTGGAAAGGAGACACCCTGGCCCACCTACTCACACCTGGAATGACGATCCCAAGACAGTTCAGTAGCAGGAGGCTTGGAGCACATGTCACACCCTGCCCCCAACGCCCCCCGCCAAATAAAAACTCACAGGAACCCTATGGGGTCAGCAGGACAGACACCACCCTCTCCATTTACAGATGAGAGAATGGAGGCCCAGAGAAGTGAAGCACATTGCCCAGCACAAGCAGTGTTCCTTTCTAGGGGTGATTTTCTGCACCAGGTTGGTGCTTCACTTACGTTGATAGGGCCATTGGTTGGTTGGTGAGGGAATAAATTAATCTCCTCCTCCTTAAGGACCTCCTATCATGTTCACATGCTAACTGGATGGAGATGGATAAAGCTGTTTGGGCAAGGAGGGCCAAGGCCAGGCTAGTTCACAGAGTGCCTTAATGCAAAGTAGAGAAAGGTGCCCTTCTTGCAGGTGATGCAGCTCTGCACCAGGGAACACAGTCTGGCAAAAGGAGTCCGGGCTGGATTTTGGCCCCCTTGTATAGTGAGCAACCTGCACAACTATCCTTGGTAGCCCTGAGTAGGGAGATGAGACCATACGATGGGTTTTCCCAGGATCCCTGAGAGCCCAGTGGGTGGTTCTGCACACAGACGCCCAAAACATGAGGCCTGGAACAGGGGCAGGCCAGAGAGGCAGCCACTGCCCACTCACCTGCCAGCACCTCCACCAGGACCTTCCTGAGGGTGTCAGCCTCACTGCCATGGAGGCTCTGGCACTGGTAGAGACCCGCATCATGGGGTTGTAGATTCCGCAGCGTAATGGTGAGAGTGCCACCCAGGGTATCGTCTGTGATGGCTGTGCTCCCATTCCACCTCCTCAGGAAGGACAGCAGCCACAAGTTGTGCGTGCTGACCACACGCTGGCATGGGCCCTTCTCTCCCAGCTGGCGGCACCAGGCCTTGCGCCTCCCCCAGTGCTTCATGGAGTCATAGGGGCAAGACACCTGCAGGGACTGGCCCGCCACGCCCTGGAACACTGTGGTGTTGTGGGCTCCGGACAGCTCTGGGGAGGAGACATTCATTCACTCCTTTGTTTACCAAATACGCTTTGAACACTTGCTCTGTGCAGTGACCTAAACAGACAAAAATCCTGCCCTGAAGGAGCTTAGGTTCTTATACAAGTTGGGAGCGGATGGCACAGCATGTGTTTGTGGGAAATTGGGAACCAGGAAACCTGGGACCTGGGTTTGGTTTTCTCACTGTTGCTCTTGCTGGGCCTCCTTGGAGAAGTAACTGACCTTCTCTGGGTCTATTCTGGAGGCACTTGGTCTTAAAACCCCCTCCAGTTCTGTTCTGCACATCTCTTTGCCATCATTTGGGACTGGGACCTCTCCTCTCGGCCTGGGGCTGGCTCTCCCTGCCCCGCCACTCTTGCTTGCTCTGCAGCCGCCCACATTGGTACCGACTTTCCTGACCTTTAACTTCCAGCTTCCCTATTTCTGTGGCTTTGTTCCCCTTTCAGGAAGGACCCGTCTCGGAGATATTTTGGGGGAGACATGAGGCTGCTATTTTGGGAACCCTCCTTAGGGCGGGGGAGATGGGCTTAGAGCACCAGCCTGTTGCTGGGGCAGCCCCCAGAGCCCCCTGCTTTGACTTCTCTCTTGGTCCTCCCTTGCCTGCCATCTTCAACCATTACTGTGACAGAGGCTTGAAAGATAGGATTGGGAAGTTGGTGGCTTGCCTTTTGGAACTAGAGAGACCAGATGGGCCGTGGCCCTCTCCCATCTGACCACCTCCCATCCATGCCTCAGAACCCCGCCTTCCCCCTGACCACCATCTAAGAAGCTGCAGGAACAAGACTCCATTTGGCACCGTCTCTCCTCTTGCCCAGGTTTGTCCAGTGCTCTGGGGGAGCAAAAGGTGCGCTTTCCTCAGCGGGAAGAAGCAATTGTGTACAAAAATTTGGTGTGTCAATTCCCCTCAACTCAGCAACGGAAATCTCTACGCTCCTCACCTCCCATCAAGAGCTGAGGACAAGGGGACCTTCAGAGCAGGGGAGAGAGTGCCCCAAAGATGCAGATGAACATCCTCAGGTTCTTTCCTCCTTTATAACTGTAGGGGCTCATAATTAGTGGCTTATAATTTCAGAGGCTATTACCAGTGCCAGTGCCCCCCAAAGCTTCCCCCAACTGCCAGCTAGTGCCTGGGATGCCACTGTTAGCACTCCTTCCCTTCCAATGCAACCAGAGTCCACCAGCCCCTTACATGTCCACATGCAGAAAGAGTCTGAGGGTAGGTTTTGATACTGGGGAGGGAAGGAGGGTGTGAAGAATATGGGCAGGGTGGGGAGGAGAGGAGTGCAGAACAGGGCACTCAGGCATGCGAGGACTGCCACCGCCTTCATAATTCACCCCAGGGCCCACCACCCGCGCCCCAACCACATGCTCAAAGTGAGGGAGAGAAGGCATCACAGGGCACGGAGGGGATCCTACCTGTGACAAAGAGTAAGATGAGCAGCCGGAGAGGCTCCATGCCACCCTTCCCCAGCCAAGGGCAGAAGCAGAGTGCCTTGTGCAAGATCTCGTCTTTCCCTTGAACTGCAGAAAAGAGAGGATCAGGCATGTCAGGCGCTGCCCACAGGAACTGGGCTCCTGGGGATTAAGCAATAGTCAGGACTGGGGTCTGGAGGCGGTGCAGGGTGGGGACAGAGGGGAGGAGGAGTCGGCCACTGCAGCCCTGGCAGAAGGAGGCTGAGTCTCCCAGACCTCTGAGAAGCCAGCCCACCCTCCTGCTGGTGCCAGCCAGGGTGGCCCCCAGATGGTTGGGGCTGGTAAGGCCCTGCACTGCTCAGTTTCCTTGCAGAGCCTAGCCCAGGGATCACTATCCTCACAGCTGTATTCAGACCCTCCACCAGCTGCAATGCCCGCCATCTTCTGGTTTCAGCCTTGCAAGAG
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AACTGATTCTGGTCCTACCAATGAAGCAGAGATCTGGGGGTCTTAGCTTTGTACTAAAGTACTAAAACATTCATTGTTGCTGAATTATGGGGATGTCTGGGGGCTGCCAGGGGAGGGGCGGGAGCTGATATTCAGGAGTCGTAGAGCAACTGCTCTTTACAAAGCATTATGGAAGTCTTCCAATAAATGAACAACTGACACAGTCACGCTAACTAACTAACATGTAGCAGCTGGTGGAGGGGTGTTTACATAAGAGATATCCAGGGCCCTTCAGGCTCTAGTTGCCTTGTAATTTGTAGTTCAGGATGCCCAGCCCCCACCCCCGTGGGGCTCTGCAGGGTGGAAGTCTGCCCACGGGTTTTAGGAAAGACCCATCGCTGTACCTGGAGATGCTGTGCTCCACATGGGCATCCTCGAAGCTCTCAGACTCCCCGGGGAACCAGAGATCTCCAGCATCCCGGTGATCCAGGGGGTCTATGGGAGGCAGAGCCATGAGCCTCCAGCCCCTTCCTCCTCGAGGCAGGGGGAGAACCTTGGCGGGAGAACCTTTATGGGTGGGGTGAGGTCCCCTGGGCACTGGTCCTATGTGGATCAGGTCATTACACTCCATAAGCCTCAGTTTCCCCACTTATAAAGTGGGCCGTTAGGAACACTTCCTTAATAGCAGGGTTGCCAGGATTCCGTGAGGGCACCTCTGTGCCGTATCCAGCACCTCATCGGAGCTCAGTAACTGCAATGCCCCCCTCCTTCCGCACAGGGGCTAAGAAGAGCAAATACAATCGTGGATGTACTTGAAAATCCTATCTAAACTGTCAAGCTGTCTACACAAGCTATGGGCTACTTTTATTTTTCTGTCTCCCTCTTGGGAGGTGGCTAAGGGAGTTCACTGCCACCGGCCATCCTTAGGAAAGTGGTGGAGGTGGGGTTTGTGTCTATGACTGGCAGTCTCCCCTGGCCTCCCCAAGTCAGGCAAATACTACTCCTGACCTCATTTCCATGGTAAAGAGCCATACTGGGAGAAGGGGTTGGAAAGGAGGAGAGTCAGAAAAGGCCTTTGTAGCCCCAGATTTGTTCTCCTTTGGGGACACAGTTGTGTTCTGCAGACTCAAGCAGAAGGCCTTCCTGGAGGGTGGTCCCTGCGCAGAGCTCGGGGGTGGAAAGGAGACACCCTGGCCCACCTACTCACACCTGGAATGACGATCCCAAGACAGTTCAGTAGCAGGAGGCTTGGAGCACATGTCACACCCTGCCCCCAACGCCCCCCGCCAAATAAAAACTCACAGGAACCCTATGGGGTCAGCAGGACAGACACCACCCTCTCCATTTACAGATGAGAGAATGGAGGCCCAGAGAAGTGAAGCACATTGCCCAGCACAAGCAGTGTTCCTTTCTAGGGGTGATTTTCTGCACCAGGTTGGTGCTTCACTTACGTTGATAGGGCCATTGGTTGGTTGGTGAGGGAATAAATTAATCTCCTCCTCCTTAAGGACCTCCTATCATGTTCACATGCTAACTGGATGGAGATGGATAAAGCTGTTTGGGCAAGGAGGGCCAAGGCCAGGCTAGTTCACAGAGTGCCTTAATGCAAAGTAGAGAAAGGTGCCCTTCTTGCAGGTGATGCAGCTCTGCACCAGGGAACACAGTCTGGCAAAAGGAGTCCGGGCTGGATTTTGGCCCCCTTGTATAGTGAGCAACCTGCACAACTATCCTTGGTAGCCCTGAGTAGGGAGATGAGACCATACGATGGGTTTTCCCAGGATCCCTGAGAGCCCAGTGGGTGGTTCTGCACACAGACGCCCAAAACATGAGGCCTGGAACAGGGGCAGGCCAGAGAGGCAGCCACTGCCCACTCACCTGCCAGCACCTCCACCAGGACCTTCCTGAGGGTGTCAGCCTCACTGCCATGGAGGCTCTGGCACTGGTAGAGACCCGCATCATGGGGTTGTAGATTCCGCAGCGTAATGGTGAGAGTGCCACCCAGGGTATCGTCTGTGATGGCTGTGCTCCCATTCCACCTCCTCAGGAAGGACAGCAGCCACAAGTTGTGCATGCTGACCACACGCTGGCATGGGCCCTTCTCTCCCAGCTGGCGGCACCAGGCCTTGCGCCTCCCCCAGTGCTTCATGGAGTCATAGGGGCAAGACACCTGCAGGGACTGGCCCGCCACGCCCTGGAACACTGTGGTGTTGTGGGCTCCGGACAGCTCTGGGGAGGAGACATTCATTCACTCCTTTGTTTACCAAATACGCTTTGAACACTTGCTCTGTGCAGTGACCTAAACAGACAAAAATCCTGCCCTGAAGGAGCTTAGGTTCTTATACAAGTTGGGAGCGGATGGCACAGCATGTGTTTGTGGGAAATTGGGAACCAGGAAACCTGGGACCTGGGTTTGGTTTTCTCACTGTTGCTCTTGCTGGGCCTCCTTGGAGAAGTAACTGACCTTCTCTGGGTCTATTCTGGAGGCACTTGGTCTTAAAACCCCCTCCAGTTCTGTTCTGCACATCTCTTTGCCATCATTTGGGACTGGGACCTCTCCTCTCGGCCTGGGGCTGGCTCTCCCTGCCCCGCCACTCTTGCTTGCTCTGCAGCCGCCCACATTGGTACCGACTTTCCTGACCTTTAACTTCCAGCTTCCCTATTTCTGTGGCTTTGTTCCCCTTTCAGGAAGGACCCGTCTCGGAGATATTTTGGGGGAGACATGAGGCTGCTATTTTGGGAACCCTCCTTAGGGCGGGGGAGATGGGCTTAGAGCACCAGCCTGTTGCTGGGGCAGCCCCCAGAGCCCCCTGCTTTGACTTCTCTCTTGGTCCTCCCTTGCCTGCCATCTTCAACCATTACTGTGACAGAGGCTTGAAAGATAGGATTGGGAAGTTGGTGGCTTGCCTTTTGGAACTAGAGAGACCAGATGGGCCGTGGCCCTCTCCCATCTGACCACCTCCCATCCATGCCTCAGAACCCCGCCTTCCCCCTGACCACCATCTAAGAAGCTGCAGGAACAAGACTCCATTTGGCACCGTCTCTCCTCTTGCCCAGGTTTGTCCAGTGCTCTGGGGGAGCAAAAGGTGCGCTTTCCTCAGCGGGAAGAAGCAATTGTGTACAAAAATTTGGTGTGTCAATTCCCCTCAACTCAGCAACGGAAATCTCTACGCTCCTCACCTCCCATCAAGAGCTGAGGACAAGGGGACCTTCAGAGCAGGGGAGAGAGTGCCCCAAAGATGCAGATGAACATCCTCAGGTTCTTTCCTCCTTTATAACTGTAGGGGCTCATAATTAGTGGCTTATAATTTCAGAGGCTATTACCAGTGCCAGTGCCCCCCAAAGCTTCCCCCAACTGCCAGCTAGTGCCTGGGATGCCACTGTTAGCACTCCTTCCCTTCCAATGCAACCAGAGTCCACCAGCCCCTTACATGTCCACATGCAGAAAGAGTCTGAGGGTAGGTTTTGATACTGGGGAGGGAAGGAGGGTGTGAAGAATATGGGCAGGGTGGGGAGGAGAGGAGTGCAGAACAGGGCACTCAGGCATGCGAGGACTGCCACCGCCTTCATAATTCACCCCAGGGCCCACCACCCGCGCCCCAACCACATGCTCAAAGTGAGGGAGAGAAGGCATCACAGGGCACGGAGGGGATCCTACCTGTGACAAAGAGTAAGATGAGCAGCCGGAGAGGCTCCATGCCACCCTTCCCCAGCCAAGGGCAGAAGCAGAGTGCCTTGTGCAAGATCTCGTCTTTCCCTTGAACTGCAGAAAAGAGAGGATCAGGCATGTCAGGCGCTGCCCACAGGAACTGGGCTCCTGGGGATTAAGCAATAGTCAGGACTGGGGTCTGGAGGCGGTGCAGGGTGGGGACAGAGGGGAGGAGGAGTCGGCCACTGCAGCCCTGGCAGAAGGAGGCTGAGTCTCCCAGACCTCTGAGAAGCCAGCCCACCCTCCTGCTGGTGCCAGCCAGGGTGGCCCCCAGATGGTTGGGGCTGGTAAGGCCCTGCACTGCTCAGTTTCCTTGCAGAGCCTAGCCCAGGGATCACTATCCTCACAGCTGTATTCAGACCCTCCACCAGCTGCAATGCCCGCCATCTTCTGGTTTCAGCCTTGCAAGAG
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Task1_train_10272
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A variant affecting Chromosome 6, within the gene GUCA1A, GUCA1ANB-GUCA1A (guanylate cyclase activator 1A| GUCA1ANB-GUCA1A readthrough), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; not provided
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ACACCCATGGCACACAATCACACTTTGCATAATACTGTCTTGACCCATTGTCATCAGCATGGAGCAGTTTAGCAGATTGGCTAGGAGATGGAACACAGGATTGGGAAGTTTTTGTTGTTGTTGTTGTTTTGTTTTTTGTTGTTGTTGTTGTTTTTTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGTCCAGAAGTTTTGATACAGAGAGGAGTTAAACAGGGACAGGCAAATGACAGCACACAGGCCTGTTTTTGTAAATGAAGTTTTATTAGAACTCACCACATCTATTTATTTACGTAGAGAATTGTCTATGGCTGCTTTCACGTAAAATGACAGAGGGTGTTTGGCTGCAAAGCTGCATATTTACTCTTTGGCTCTTTACAGAAAAAGTTTGCCATTTTCTAATAAAAACTAAAAAGTTTTTAGTGCAAGTGCCAGCCCTTGCACTAAAAAATGGTTGTATCTTTGGGTATTGCACCAGATGTGCAGGGCTGGGGAGTACAGAGTGTGACTGGGGAGTGAAACCTGGGGGACAGGCCATTTGCTTTGCTTACTTCAAATGTTTGTCTGGGCTTGGGTTTGTCTGACAATCACACAGGTGCACACAAATCAATGCAAATCTCCATCTGCATTTGAGTACTGATATAGGATGATTTAGGAGAGGCTTTGTCATTCACTAGCTGTTTGGCCTAATCTCTCTCAACTTTGGCTTTGTCATTCAAACTAGAGACAAAAATATTCACCTCTTGGGGGTGGCTTGAGATTAAATGAGTAAAATGAATAAAGCACTCAGCCTAGGAAGTCCATGGAGAGCACTAAGAAAAGTTAGTATTGCTATATATTTTCATTGAATCTAATGCATACCACAATCTTGAAAAGTGCACACTGTCATTCCATTTTATACCTGGGAATACGGAGACTCAAGGTCATGTGACTTATCCAAGGTGATTTAGATCTTTCTGGCACAAAAATCCACACCTTTTCCATTGCCCCTTTTTAGACATTAAAAAAAAAACCTGCAAAAGCAATCCAGCTCATTGTAGAAATTTCCAGCAATACAGAAAGATAAAAAATGAAGAGCAAAAGTATCCTCACCTGGTGTCCCCTCCCCCAGAGGAAACCTCTTTAGCAGTTTTCTTGCTTATTCAAGCTGTGCTGTCTAGGGGCCTCTCTGGGCTCTGTGCTGATGACAGTCCTGGGAGGTGGGTTGGGACTGAATGAGCCCACTGTGGGGTTCAGAGTGTTTAAGGCCTTCCGGGGGCCTCAGCCCCTCAGGCAGCAGGGTGAGAAACTCCCAAAAGCTCACCCAAACCACGCTCCCATCCCTGGGGGTGCAGTTCTTCCTCCTCCCACCTACGCACATGTCTCCCATTTCCCCTAACTGGAAAGGCTCATGCTTGACAATCACAGGGAAGCAGGCAGCGCTCGCTAAAACCCAGATGCCTGTGAACAGACAGCGCCAGCCATTCACACCCCAGTGGATGCTGGCTTATTAGATTTGATTGGCAGCCTCTGGAGTAGGCAGGGTGGGCTATACAGGGCGTCTAGGAAGACAGATAGGTCACGGCGGAGACAGGGCTGGCCCCCTCGCTGCATCTCCGAGGGTCCGGGTCTCCCCTCAGCGTCTCTTGGGGCTTGCCGAGATGGGCGGAGCCTTGGGTTATGATGGGCGGGGCCTGAGGCTGGAGTGAGCGGGGCCCGGATGGGCTCACGGCGGCCGCGCCCCTCGCCCAGGACGGCTACATTGATTTCATGGAGTACGTGGCAGCGCTCAGCTTGGTCCTCAAGGGGAAGGTGGAACAGAAGCTCCGCTGGTACTTCAAGCTCTATGATGTAGATGGCAACGGCTGCATTGACCGCGATGAGCTGCTCACCATCATCCAGGTGCAGAGGGCCCGGCCAGGGCTGGGGGCAGCGGTCTGGGGTGGGACCCGGAACTGAGAGCCCAGGGTTAGAACAACAATCTCAGGATTGAGACAGGATGTGGGACTGAGGATCCTGGTGGCAGCTGTAGGCCTCACCAGCTGCGTGACCCAGGCCACGTTCCTTCCCTTCCTTGGCCTCAGTTTCCTCATCAATACCAAAAGACGATAGAAGTTTGACTCTTGAGTCCCAGCTCTGCCTAGGCCCCCGGGTACCCTGCACTCTACTCCTCACTGCTCTTGGGAGCCGGACAAGCTCTGACCGTCCCCAATCCTACCCCTGAGATAGGATAAGGATGGGCCCCTCTCACTTCTGCCCCTTCTTCCCTCCCAGGCCATTCGCGCCATTAACCCCTGCAGCGATACCACCATGACTGCAGAGGAGTTCACCGATACAGTGTTCTCCAAGATTGACGTCAACGGGGATGGTGAGGGGGCCGAGGAGGGGCTCCCCAGCGGAGGGGTCACCATGGATGTGGGGTCACCAGGGGTGGAAGGTCACTAAAGGAGAGGGTGAGGAAGGGAGGAGAGGCCCAAAGGCCCCCGTGCTGGTCACTTCCTCCACCTGCCTCTGCCCCAGCCACAAAGTTGGCTTTTAGGGGCCCCTGGACCAGAATCTGGGCTCTGGGTTCCTCTGCTTGCTGCACCCGCAGCAGGGGCTCTGACTTCTCCTCACGTGGGCTCTGTCCCTGCCCCTGGCAAGAACCCGGTTCTGTGCTCTGGACTGCAGAAATGAACACCCTCCTCCCCCTGATTCCCTTTCTCTCTACCCCAGGGGAACTCTCCCTGGAAGAGTTTATAGAGGGCGTCCAGAAGGACCAGATGCTCCTGGACACACTGACACGAAGCCTGGACCTTACCCGCATCGTGCGCAGGCTCCAGAATGGCGAGCAAGACGAGGAGGGGGCTGACGAGGCCGCTGAGGCAGCCGGCTGAGTGCACCGCCCGGCTGCTTCTGCACTAGCGGGTGGGGTGGTATGGTGGTGCCTGTTGGTGGTGTTCTTGTCTTAACCCTAGATAGAATCTAATGAACTCAGAGGCTTAGCTCGCCTCTTTAGGGTCCATGGTGGCAGCAGAGAGGCAGAAGTGGGAGTCCAGAGCCAGGAACAGTGAAGGATGGTTCCTGGCCCCTCTGAGTGACAGCTGGTGGCAGCACTCCTTGCTGGGGGGCACTGTTCAACATCCCTCTGCCGTCGGGTGACCCCCTAGCCCTTCTGACTCCTCTCCCAGCTTTTCCCAGCTTTCCCCACTGAGCTTCTCCAGTCCATGCTCTTCTGGACGTGGACTCTCTGAGGCAGAACTGAGCTTTTCCAGGCCTCTTATGGAATCCTGCAGATCCAGTGGCTGCAGCTTCAATCCCAGTGCTGCAATCACACATCCATTCTGCCCTGGGGGACCCTGGAGCCTACTTGTGCGCTTTGCATTTCATTGATTGACGCCTCCCTTCAACAAGCATTTACTGAGCGCCTACTATGTACTAATGCTAGATGTTAGATGTACAAAGAAGACAGTTTTCATCCTCTAGGAACTCATAGGCTAATGGTGAGACACACAGACAAACATCATTATAATAAAATATGCTAAGAGAAGTTATGAATAGATTTCTGTAGAAGACACCTACAGGCGTCTGACTCAGAGGCAGCATCACAGAGGTGACCTTTGACTTTGAACAGGAAAGAGTGCTTCGGGGCCGAATGTAGAGAAGAAGGTGATGCATGTGGGGTGGTTGGAGATGCATTCTCTGTGATGTATGTGTCACATGTGGGGGGCTGTGTGATGTGGACAGGAGCATTCTTAGGTGCAAATTTGGGGTATCCCTTGGGATTTAAATTTTACCAAATTTAAAACAGTAAGAATCACCATATCTGTTTTTAGGGAGTACCCCAGTAAGGGAAAACAAACAAACATAGCTTCTTCAAGAGA
|
ACACCCATGGCACACAATCACACTTTGCATAATACTGTCTTGACCCATTGTCATCAGCATGGAGCAGTTTAGCAGATTGGCTAGGAGATGGAACACAGGATTGGGAAGTTTTTGTTGTTGTTGTTGTTTTGTTTTTTGTTGTTGTTGTTGTTTTTTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGTCCAGAAGTTTTGATACAGAGAGGAGTTAAACAGGGACAGGCAAATGACAGCACACAGGCCTGTTTTTGTAAATGAAGTTTTATTAGAACTCACCACATCTATTTATTTACGTAGAGAATTGTCTATGGCTGCTTTCACGTAAAATGACAGAGGGTGTTTGGCTGCAAAGCTGCATATTTACTCTTTGGCTCTTTACAGAAAAAGTTTGCCATTTTCTAATAAAAACTAAAAAGTTTTTAGTGCAAGTGCCAGCCCTTGCACTAAAAAATGGTTGTATCTTTGGGTATTGCACCAGATGTGCAGGGCTGGGGAGTACAGAGTGTGACTGGGGAGTGAAACCTGGGGGACAGGCCATTTGCTTTGCTTACTTCAAATGTTTGTCTGGGCTTGGGTTTGTCTGACAATCACACAGGTGCACACAAATCAATGCAAATCTCCATCTGCATTTGAGTACTGATATAGGATGATTTAGGAGAGGCTTTGTCATTCACTAGCTGTTTGGCCTAATCTCTCTCAACTTTGGCTTTGTCATTCAAACTAGAGACAAAAATATTCACCTCTTGGGGGTGGCTTGAGATTAAATGAGTAAAATGAATAAAGCACTCAGCCTAGGAAGTCCATGGAGAGCACTAAGAAAAGTTAGTATTGCTATATATTTTCATTGAATCTAATGCATACCACAATCTTGAAAAGTGCACACTGTCATTCCATTTTATACCTGGGAATACGGAGACTCAAGGTCATGTGACTTATCCAAGGTGATTTAGATCTTTCTGGCACAAAAATCCACACCTTTTCCATTGCCCCTTTTTAGACATTAAAAAAAAAACCTGCAAAAGCAATCCAGCTCATTGTAGAAATTTCCAGCAATACAGAAAGATAAAAAATGAAGAGCAAAAGTATCCTCACCTGGTGTCCCCTCCCCCAGAGGAAACCTCTTTAGCAGTTTTCTTGCTTATTCAAGCTGTGCTGTCTAGGGGCCTCTCTGGGCTCTGTGCTGATGACAGTCCTGGGAGGTGGGTTGGGACTGAATGAGCCCACTGTGGGGTTCAGAGTGTTTAAGGCCTTCCGGGGGCCTCAGCCCCTCAGGCAGCAGGGTGAGAAACTCCCAAAAGCTCACCCAAACCACGCTCCCATCCCTGGGGGTGCAGTTCTTCCTCCTCCCACCTACGCACATGTCTCCCATTTCCCCTAACTGGAAAGGCTCATGCTTGACAATCACAGGGAAGCAGGCAGCGCTCGCTAAAACCCAGATGCCTGTGAACAGACAGCGCCAGCCATTCACACCCCAGTGGATGCTGGCTTATTAGATTTGATTGGCAGCCTCTGGAGTAGGCAGGGTGGGCTATACAGGGCGTCTAGGAAGACAGATAGGTCACGGCGGAGACAGGGCTGGCCCCCTCGCTGCATCTCCGAGGGTCCGGGTCTCCCCTCAGCGTCTCTTGGGGCTTGCCGAGATGGGCGGAGCCTTGGGTTATGATGGGCGGGGCCTGAGGCTGGAGTGAGCGGGGCCCGGATGGGCTCACGGCGGCCGCGCCCCTCGCCCAGGACGGCTACATTGATTTCATGGAGTACGTGGCAGCGCTCAGCTTGGTCCTCAAGGGGAAGGTGAAACAGAAGCTCCGCTGGTACTTCAAGCTCTATGATGTAGATGGCAACGGCTGCATTGACCGCGATGAGCTGCTCACCATCATCCAGGTGCAGAGGGCCCGGCCAGGGCTGGGGGCAGCGGTCTGGGGTGGGACCCGGAACTGAGAGCCCAGGGTTAGAACAACAATCTCAGGATTGAGACAGGATGTGGGACTGAGGATCCTGGTGGCAGCTGTAGGCCTCACCAGCTGCGTGACCCAGGCCACGTTCCTTCCCTTCCTTGGCCTCAGTTTCCTCATCAATACCAAAAGACGATAGAAGTTTGACTCTTGAGTCCCAGCTCTGCCTAGGCCCCCGGGTACCCTGCACTCTACTCCTCACTGCTCTTGGGAGCCGGACAAGCTCTGACCGTCCCCAATCCTACCCCTGAGATAGGATAAGGATGGGCCCCTCTCACTTCTGCCCCTTCTTCCCTCCCAGGCCATTCGCGCCATTAACCCCTGCAGCGATACCACCATGACTGCAGAGGAGTTCACCGATACAGTGTTCTCCAAGATTGACGTCAACGGGGATGGTGAGGGGGCCGAGGAGGGGCTCCCCAGCGGAGGGGTCACCATGGATGTGGGGTCACCAGGGGTGGAAGGTCACTAAAGGAGAGGGTGAGGAAGGGAGGAGAGGCCCAAAGGCCCCCGTGCTGGTCACTTCCTCCACCTGCCTCTGCCCCAGCCACAAAGTTGGCTTTTAGGGGCCCCTGGACCAGAATCTGGGCTCTGGGTTCCTCTGCTTGCTGCACCCGCAGCAGGGGCTCTGACTTCTCCTCACGTGGGCTCTGTCCCTGCCCCTGGCAAGAACCCGGTTCTGTGCTCTGGACTGCAGAAATGAACACCCTCCTCCCCCTGATTCCCTTTCTCTCTACCCCAGGGGAACTCTCCCTGGAAGAGTTTATAGAGGGCGTCCAGAAGGACCAGATGCTCCTGGACACACTGACACGAAGCCTGGACCTTACCCGCATCGTGCGCAGGCTCCAGAATGGCGAGCAAGACGAGGAGGGGGCTGACGAGGCCGCTGAGGCAGCCGGCTGAGTGCACCGCCCGGCTGCTTCTGCACTAGCGGGTGGGGTGGTATGGTGGTGCCTGTTGGTGGTGTTCTTGTCTTAACCCTAGATAGAATCTAATGAACTCAGAGGCTTAGCTCGCCTCTTTAGGGTCCATGGTGGCAGCAGAGAGGCAGAAGTGGGAGTCCAGAGCCAGGAACAGTGAAGGATGGTTCCTGGCCCCTCTGAGTGACAGCTGGTGGCAGCACTCCTTGCTGGGGGGCACTGTTCAACATCCCTCTGCCGTCGGGTGACCCCCTAGCCCTTCTGACTCCTCTCCCAGCTTTTCCCAGCTTTCCCCACTGAGCTTCTCCAGTCCATGCTCTTCTGGACGTGGACTCTCTGAGGCAGAACTGAGCTTTTCCAGGCCTCTTATGGAATCCTGCAGATCCAGTGGCTGCAGCTTCAATCCCAGTGCTGCAATCACACATCCATTCTGCCCTGGGGGACCCTGGAGCCTACTTGTGCGCTTTGCATTTCATTGATTGACGCCTCCCTTCAACAAGCATTTACTGAGCGCCTACTATGTACTAATGCTAGATGTTAGATGTACAAAGAAGACAGTTTTCATCCTCTAGGAACTCATAGGCTAATGGTGAGACACACAGACAAACATCATTATAATAAAATATGCTAAGAGAAGTTATGAATAGATTTCTGTAGAAGACACCTACAGGCGTCTGACTCAGAGGCAGCATCACAGAGGTGACCTTTGACTTTGAACAGGAAAGAGTGCTTCGGGGCCGAATGTAGAGAAGAAGGTGATGCATGTGGGGTGGTTGGAGATGCATTCTCTGTGATGTATGTGTCACATGTGGGGGGCTGTGTGATGTGGACAGGAGCATTCTTAGGTGCAAATTTGGGGTATCCCTTGGGATTTAAATTTTACCAAATTTAAAACAGTAAGAATCACCATATCTGTTTTTAGGGAGTACCCCAGTAAGGGAAAACAAACAAACATAGCTTCTTCAAGAGA
|
Task1_train_10273
|
A mutation on Chromosome 6 affecting GUCA1A, GUCA1ANB-GUCA1A (guanylate cyclase activator 1A| GUCA1ANB-GUCA1A readthrough) has been found. Is it harmful or harmless? What disease, if any, does it cause?
|
Pathogenic; not provided
|
AATACTGTCTTGACCCATTGTCATCAGCATGGAGCAGTTTAGCAGATTGGCTAGGAGATGGAACACAGGATTGGGAAGTTTTTGTTGTTGTTGTTGTTTTGTTTTTTGTTGTTGTTGTTGTTTTTTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGTCCAGAAGTTTTGATACAGAGAGGAGTTAAACAGGGACAGGCAAATGACAGCACACAGGCCTGTTTTTGTAAATGAAGTTTTATTAGAACTCACCACATCTATTTATTTACGTAGAGAATTGTCTATGGCTGCTTTCACGTAAAATGACAGAGGGTGTTTGGCTGCAAAGCTGCATATTTACTCTTTGGCTCTTTACAGAAAAAGTTTGCCATTTTCTAATAAAAACTAAAAAGTTTTTAGTGCAAGTGCCAGCCCTTGCACTAAAAAATGGTTGTATCTTTGGGTATTGCACCAGATGTGCAGGGCTGGGGAGTACAGAGTGTGACTGGGGAGTGAAACCTGGGGGACAGGCCATTTGCTTTGCTTACTTCAAATGTTTGTCTGGGCTTGGGTTTGTCTGACAATCACACAGGTGCACACAAATCAATGCAAATCTCCATCTGCATTTGAGTACTGATATAGGATGATTTAGGAGAGGCTTTGTCATTCACTAGCTGTTTGGCCTAATCTCTCTCAACTTTGGCTTTGTCATTCAAACTAGAGACAAAAATATTCACCTCTTGGGGGTGGCTTGAGATTAAATGAGTAAAATGAATAAAGCACTCAGCCTAGGAAGTCCATGGAGAGCACTAAGAAAAGTTAGTATTGCTATATATTTTCATTGAATCTAATGCATACCACAATCTTGAAAAGTGCACACTGTCATTCCATTTTATACCTGGGAATACGGAGACTCAAGGTCATGTGACTTATCCAAGGTGATTTAGATCTTTCTGGCACAAAAATCCACACCTTTTCCATTGCCCCTTTTTAGACATTAAAAAAAAAACCTGCAAAAGCAATCCAGCTCATTGTAGAAATTTCCAGCAATACAGAAAGATAAAAAATGAAGAGCAAAAGTATCCTCACCTGGTGTCCCCTCCCCCAGAGGAAACCTCTTTAGCAGTTTTCTTGCTTATTCAAGCTGTGCTGTCTAGGGGCCTCTCTGGGCTCTGTGCTGATGACAGTCCTGGGAGGTGGGTTGGGACTGAATGAGCCCACTGTGGGGTTCAGAGTGTTTAAGGCCTTCCGGGGGCCTCAGCCCCTCAGGCAGCAGGGTGAGAAACTCCCAAAAGCTCACCCAAACCACGCTCCCATCCCTGGGGGTGCAGTTCTTCCTCCTCCCACCTACGCACATGTCTCCCATTTCCCCTAACTGGAAAGGCTCATGCTTGACAATCACAGGGAAGCAGGCAGCGCTCGCTAAAACCCAGATGCCTGTGAACAGACAGCGCCAGCCATTCACACCCCAGTGGATGCTGGCTTATTAGATTTGATTGGCAGCCTCTGGAGTAGGCAGGGTGGGCTATACAGGGCGTCTAGGAAGACAGATAGGTCACGGCGGAGACAGGGCTGGCCCCCTCGCTGCATCTCCGAGGGTCCGGGTCTCCCCTCAGCGTCTCTTGGGGCTTGCCGAGATGGGCGGAGCCTTGGGTTATGATGGGCGGGGCCTGAGGCTGGAGTGAGCGGGGCCCGGATGGGCTCACGGCGGCCGCGCCCCTCGCCCAGGACGGCTACATTGATTTCATGGAGTACGTGGCAGCGCTCAGCTTGGTCCTCAAGGGGAAGGTGGAACAGAAGCTCCGCTGGTACTTCAAGCTCTATGATGTAGATGGCAACGGCTGCATTGACCGCGATGAGCTGCTCACCATCATCCAGGTGCAGAGGGCCCGGCCAGGGCTGGGGGCAGCGGTCTGGGGTGGGACCCGGAACTGAGAGCCCAGGGTTAGAACAACAATCTCAGGATTGAGACAGGATGTGGGACTGAGGATCCTGGTGGCAGCTGTAGGCCTCACCAGCTGCGTGACCCAGGCCACGTTCCTTCCCTTCCTTGGCCTCAGTTTCCTCATCAATACCAAAAGACGATAGAAGTTTGACTCTTGAGTCCCAGCTCTGCCTAGGCCCCCGGGTACCCTGCACTCTACTCCTCACTGCTCTTGGGAGCCGGACAAGCTCTGACCGTCCCCAATCCTACCCCTGAGATAGGATAAGGATGGGCCCCTCTCACTTCTGCCCCTTCTTCCCTCCCAGGCCATTCGCGCCATTAACCCCTGCAGCGATACCACCATGACTGCAGAGGAGTTCACCGATACAGTGTTCTCCAAGATTGACGTCAACGGGGATGGTGAGGGGGCCGAGGAGGGGCTCCCCAGCGGAGGGGTCACCATGGATGTGGGGTCACCAGGGGTGGAAGGTCACTAAAGGAGAGGGTGAGGAAGGGAGGAGAGGCCCAAAGGCCCCCGTGCTGGTCACTTCCTCCACCTGCCTCTGCCCCAGCCACAAAGTTGGCTTTTAGGGGCCCCTGGACCAGAATCTGGGCTCTGGGTTCCTCTGCTTGCTGCACCCGCAGCAGGGGCTCTGACTTCTCCTCACGTGGGCTCTGTCCCTGCCCCTGGCAAGAACCCGGTTCTGTGCTCTGGACTGCAGAAATGAACACCCTCCTCCCCCTGATTCCCTTTCTCTCTACCCCAGGGGAACTCTCCCTGGAAGAGTTTATAGAGGGCGTCCAGAAGGACCAGATGCTCCTGGACACACTGACACGAAGCCTGGACCTTACCCGCATCGTGCGCAGGCTCCAGAATGGCGAGCAAGACGAGGAGGGGGCTGACGAGGCCGCTGAGGCAGCCGGCTGAGTGCACCGCCCGGCTGCTTCTGCACTAGCGGGTGGGGTGGTATGGTGGTGCCTGTTGGTGGTGTTCTTGTCTTAACCCTAGATAGAATCTAATGAACTCAGAGGCTTAGCTCGCCTCTTTAGGGTCCATGGTGGCAGCAGAGAGGCAGAAGTGGGAGTCCAGAGCCAGGAACAGTGAAGGATGGTTCCTGGCCCCTCTGAGTGACAGCTGGTGGCAGCACTCCTTGCTGGGGGGCACTGTTCAACATCCCTCTGCCGTCGGGTGACCCCCTAGCCCTTCTGACTCCTCTCCCAGCTTTTCCCAGCTTTCCCCACTGAGCTTCTCCAGTCCATGCTCTTCTGGACGTGGACTCTCTGAGGCAGAACTGAGCTTTTCCAGGCCTCTTATGGAATCCTGCAGATCCAGTGGCTGCAGCTTCAATCCCAGTGCTGCAATCACACATCCATTCTGCCCTGGGGGACCCTGGAGCCTACTTGTGCGCTTTGCATTTCATTGATTGACGCCTCCCTTCAACAAGCATTTACTGAGCGCCTACTATGTACTAATGCTAGATGTTAGATGTACAAAGAAGACAGTTTTCATCCTCTAGGAACTCATAGGCTAATGGTGAGACACACAGACAAACATCATTATAATAAAATATGCTAAGAGAAGTTATGAATAGATTTCTGTAGAAGACACCTACAGGCGTCTGACTCAGAGGCAGCATCACAGAGGTGACCTTTGACTTTGAACAGGAAAGAGTGCTTCGGGGCCGAATGTAGAGAAGAAGGTGATGCATGTGGGGTGGTTGGAGATGCATTCTCTGTGATGTATGTGTCACATGTGGGGGGCTGTGTGATGTGGACAGGAGCATTCTTAGGTGCAAATTTGGGGTATCCCTTGGGATTTAAATTTTACCAAATTTAAAACAGTAAGAATCACCATATCTGTTTTTAGGGAGTACCCCAGTAAGGGAAAACAAACAAACATAGCTTCTTCAAGAGATTTATAATCCTACTAGCAAGATAAGGATGG
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AATACTGTCTTGACCCATTGTCATCAGCATGGAGCAGTTTAGCAGATTGGCTAGGAGATGGAACACAGGATTGGGAAGTTTTTGTTGTTGTTGTTGTTTTGTTTTTTGTTGTTGTTGTTGTTTTTTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGTCCAGAAGTTTTGATACAGAGAGGAGTTAAACAGGGACAGGCAAATGACAGCACACAGGCCTGTTTTTGTAAATGAAGTTTTATTAGAACTCACCACATCTATTTATTTACGTAGAGAATTGTCTATGGCTGCTTTCACGTAAAATGACAGAGGGTGTTTGGCTGCAAAGCTGCATATTTACTCTTTGGCTCTTTACAGAAAAAGTTTGCCATTTTCTAATAAAAACTAAAAAGTTTTTAGTGCAAGTGCCAGCCCTTGCACTAAAAAATGGTTGTATCTTTGGGTATTGCACCAGATGTGCAGGGCTGGGGAGTACAGAGTGTGACTGGGGAGTGAAACCTGGGGGACAGGCCATTTGCTTTGCTTACTTCAAATGTTTGTCTGGGCTTGGGTTTGTCTGACAATCACACAGGTGCACACAAATCAATGCAAATCTCCATCTGCATTTGAGTACTGATATAGGATGATTTAGGAGAGGCTTTGTCATTCACTAGCTGTTTGGCCTAATCTCTCTCAACTTTGGCTTTGTCATTCAAACTAGAGACAAAAATATTCACCTCTTGGGGGTGGCTTGAGATTAAATGAGTAAAATGAATAAAGCACTCAGCCTAGGAAGTCCATGGAGAGCACTAAGAAAAGTTAGTATTGCTATATATTTTCATTGAATCTAATGCATACCACAATCTTGAAAAGTGCACACTGTCATTCCATTTTATACCTGGGAATACGGAGACTCAAGGTCATGTGACTTATCCAAGGTGATTTAGATCTTTCTGGCACAAAAATCCACACCTTTTCCATTGCCCCTTTTTAGACATTAAAAAAAAAACCTGCAAAAGCAATCCAGCTCATTGTAGAAATTTCCAGCAATACAGAAAGATAAAAAATGAAGAGCAAAAGTATCCTCACCTGGTGTCCCCTCCCCCAGAGGAAACCTCTTTAGCAGTTTTCTTGCTTATTCAAGCTGTGCTGTCTAGGGGCCTCTCTGGGCTCTGTGCTGATGACAGTCCTGGGAGGTGGGTTGGGACTGAATGAGCCCACTGTGGGGTTCAGAGTGTTTAAGGCCTTCCGGGGGCCTCAGCCCCTCAGGCAGCAGGGTGAGAAACTCCCAAAAGCTCACCCAAACCACGCTCCCATCCCTGGGGGTGCAGTTCTTCCTCCTCCCACCTACGCACATGTCTCCCATTTCCCCTAACTGGAAAGGCTCATGCTTGACAATCACAGGGAAGCAGGCAGCGCTCGCTAAAACCCAGATGCCTGTGAACAGACAGCGCCAGCCATTCACACCCCAGTGGATGCTGGCTTATTAGATTTGATTGGCAGCCTCTGGAGTAGGCAGGGTGGGCTATACAGGGCGTCTAGGAAGACAGATAGGTCACGGCGGAGACAGGGCTGGCCCCCTCGCTGCATCTCCGAGGGTCCGGGTCTCCCCTCAGCGTCTCTTGGGGCTTGCCGAGATGGGCGGAGCCTTGGGTTATGATGGGCGGGGCCTGAGGCTGGAGTGAGCGGGGCCCGGATGGGCTCACGGCGGCCGCGCCCCTCGCCCAGGACGGCTACATTGATTTCATGGAGTACGTGGCAGCGCTCAGCTTGGTCCTCAAGGGGAAGGTGGAACAGAAGCTCCGCTGGTACTTCAAGCTCCATGATGTAGATGGCAACGGCTGCATTGACCGCGATGAGCTGCTCACCATCATCCAGGTGCAGAGGGCCCGGCCAGGGCTGGGGGCAGCGGTCTGGGGTGGGACCCGGAACTGAGAGCCCAGGGTTAGAACAACAATCTCAGGATTGAGACAGGATGTGGGACTGAGGATCCTGGTGGCAGCTGTAGGCCTCACCAGCTGCGTGACCCAGGCCACGTTCCTTCCCTTCCTTGGCCTCAGTTTCCTCATCAATACCAAAAGACGATAGAAGTTTGACTCTTGAGTCCCAGCTCTGCCTAGGCCCCCGGGTACCCTGCACTCTACTCCTCACTGCTCTTGGGAGCCGGACAAGCTCTGACCGTCCCCAATCCTACCCCTGAGATAGGATAAGGATGGGCCCCTCTCACTTCTGCCCCTTCTTCCCTCCCAGGCCATTCGCGCCATTAACCCCTGCAGCGATACCACCATGACTGCAGAGGAGTTCACCGATACAGTGTTCTCCAAGATTGACGTCAACGGGGATGGTGAGGGGGCCGAGGAGGGGCTCCCCAGCGGAGGGGTCACCATGGATGTGGGGTCACCAGGGGTGGAAGGTCACTAAAGGAGAGGGTGAGGAAGGGAGGAGAGGCCCAAAGGCCCCCGTGCTGGTCACTTCCTCCACCTGCCTCTGCCCCAGCCACAAAGTTGGCTTTTAGGGGCCCCTGGACCAGAATCTGGGCTCTGGGTTCCTCTGCTTGCTGCACCCGCAGCAGGGGCTCTGACTTCTCCTCACGTGGGCTCTGTCCCTGCCCCTGGCAAGAACCCGGTTCTGTGCTCTGGACTGCAGAAATGAACACCCTCCTCCCCCTGATTCCCTTTCTCTCTACCCCAGGGGAACTCTCCCTGGAAGAGTTTATAGAGGGCGTCCAGAAGGACCAGATGCTCCTGGACACACTGACACGAAGCCTGGACCTTACCCGCATCGTGCGCAGGCTCCAGAATGGCGAGCAAGACGAGGAGGGGGCTGACGAGGCCGCTGAGGCAGCCGGCTGAGTGCACCGCCCGGCTGCTTCTGCACTAGCGGGTGGGGTGGTATGGTGGTGCCTGTTGGTGGTGTTCTTGTCTTAACCCTAGATAGAATCTAATGAACTCAGAGGCTTAGCTCGCCTCTTTAGGGTCCATGGTGGCAGCAGAGAGGCAGAAGTGGGAGTCCAGAGCCAGGAACAGTGAAGGATGGTTCCTGGCCCCTCTGAGTGACAGCTGGTGGCAGCACTCCTTGCTGGGGGGCACTGTTCAACATCCCTCTGCCGTCGGGTGACCCCCTAGCCCTTCTGACTCCTCTCCCAGCTTTTCCCAGCTTTCCCCACTGAGCTTCTCCAGTCCATGCTCTTCTGGACGTGGACTCTCTGAGGCAGAACTGAGCTTTTCCAGGCCTCTTATGGAATCCTGCAGATCCAGTGGCTGCAGCTTCAATCCCAGTGCTGCAATCACACATCCATTCTGCCCTGGGGGACCCTGGAGCCTACTTGTGCGCTTTGCATTTCATTGATTGACGCCTCCCTTCAACAAGCATTTACTGAGCGCCTACTATGTACTAATGCTAGATGTTAGATGTACAAAGAAGACAGTTTTCATCCTCTAGGAACTCATAGGCTAATGGTGAGACACACAGACAAACATCATTATAATAAAATATGCTAAGAGAAGTTATGAATAGATTTCTGTAGAAGACACCTACAGGCGTCTGACTCAGAGGCAGCATCACAGAGGTGACCTTTGACTTTGAACAGGAAAGAGTGCTTCGGGGCCGAATGTAGAGAAGAAGGTGATGCATGTGGGGTGGTTGGAGATGCATTCTCTGTGATGTATGTGTCACATGTGGGGGGCTGTGTGATGTGGACAGGAGCATTCTTAGGTGCAAATTTGGGGTATCCCTTGGGATTTAAATTTTACCAAATTTAAAACAGTAAGAATCACCATATCTGTTTTTAGGGAGTACCCCAGTAAGGGAAAACAAACAAACATAGCTTCTTCAAGAGATTTATAATCCTACTAGCAAGATAAGGATGG
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Task1_train_10274
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The gene GUCA1A, GUCA1ANB-GUCA1A (guanylate cyclase activator 1A| GUCA1ANB-GUCA1A readthrough) on Chromosome 6 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Retinal dystrophy
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ATACTGTCTTGACCCATTGTCATCAGCATGGAGCAGTTTAGCAGATTGGCTAGGAGATGGAACACAGGATTGGGAAGTTTTTGTTGTTGTTGTTGTTTTGTTTTTTGTTGTTGTTGTTGTTTTTTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGTCCAGAAGTTTTGATACAGAGAGGAGTTAAACAGGGACAGGCAAATGACAGCACACAGGCCTGTTTTTGTAAATGAAGTTTTATTAGAACTCACCACATCTATTTATTTACGTAGAGAATTGTCTATGGCTGCTTTCACGTAAAATGACAGAGGGTGTTTGGCTGCAAAGCTGCATATTTACTCTTTGGCTCTTTACAGAAAAAGTTTGCCATTTTCTAATAAAAACTAAAAAGTTTTTAGTGCAAGTGCCAGCCCTTGCACTAAAAAATGGTTGTATCTTTGGGTATTGCACCAGATGTGCAGGGCTGGGGAGTACAGAGTGTGACTGGGGAGTGAAACCTGGGGGACAGGCCATTTGCTTTGCTTACTTCAAATGTTTGTCTGGGCTTGGGTTTGTCTGACAATCACACAGGTGCACACAAATCAATGCAAATCTCCATCTGCATTTGAGTACTGATATAGGATGATTTAGGAGAGGCTTTGTCATTCACTAGCTGTTTGGCCTAATCTCTCTCAACTTTGGCTTTGTCATTCAAACTAGAGACAAAAATATTCACCTCTTGGGGGTGGCTTGAGATTAAATGAGTAAAATGAATAAAGCACTCAGCCTAGGAAGTCCATGGAGAGCACTAAGAAAAGTTAGTATTGCTATATATTTTCATTGAATCTAATGCATACCACAATCTTGAAAAGTGCACACTGTCATTCCATTTTATACCTGGGAATACGGAGACTCAAGGTCATGTGACTTATCCAAGGTGATTTAGATCTTTCTGGCACAAAAATCCACACCTTTTCCATTGCCCCTTTTTAGACATTAAAAAAAAAACCTGCAAAAGCAATCCAGCTCATTGTAGAAATTTCCAGCAATACAGAAAGATAAAAAATGAAGAGCAAAAGTATCCTCACCTGGTGTCCCCTCCCCCAGAGGAAACCTCTTTAGCAGTTTTCTTGCTTATTCAAGCTGTGCTGTCTAGGGGCCTCTCTGGGCTCTGTGCTGATGACAGTCCTGGGAGGTGGGTTGGGACTGAATGAGCCCACTGTGGGGTTCAGAGTGTTTAAGGCCTTCCGGGGGCCTCAGCCCCTCAGGCAGCAGGGTGAGAAACTCCCAAAAGCTCACCCAAACCACGCTCCCATCCCTGGGGGTGCAGTTCTTCCTCCTCCCACCTACGCACATGTCTCCCATTTCCCCTAACTGGAAAGGCTCATGCTTGACAATCACAGGGAAGCAGGCAGCGCTCGCTAAAACCCAGATGCCTGTGAACAGACAGCGCCAGCCATTCACACCCCAGTGGATGCTGGCTTATTAGATTTGATTGGCAGCCTCTGGAGTAGGCAGGGTGGGCTATACAGGGCGTCTAGGAAGACAGATAGGTCACGGCGGAGACAGGGCTGGCCCCCTCGCTGCATCTCCGAGGGTCCGGGTCTCCCCTCAGCGTCTCTTGGGGCTTGCCGAGATGGGCGGAGCCTTGGGTTATGATGGGCGGGGCCTGAGGCTGGAGTGAGCGGGGCCCGGATGGGCTCACGGCGGCCGCGCCCCTCGCCCAGGACGGCTACATTGATTTCATGGAGTACGTGGCAGCGCTCAGCTTGGTCCTCAAGGGGAAGGTGGAACAGAAGCTCCGCTGGTACTTCAAGCTCTATGATGTAGATGGCAACGGCTGCATTGACCGCGATGAGCTGCTCACCATCATCCAGGTGCAGAGGGCCCGGCCAGGGCTGGGGGCAGCGGTCTGGGGTGGGACCCGGAACTGAGAGCCCAGGGTTAGAACAACAATCTCAGGATTGAGACAGGATGTGGGACTGAGGATCCTGGTGGCAGCTGTAGGCCTCACCAGCTGCGTGACCCAGGCCACGTTCCTTCCCTTCCTTGGCCTCAGTTTCCTCATCAATACCAAAAGACGATAGAAGTTTGACTCTTGAGTCCCAGCTCTGCCTAGGCCCCCGGGTACCCTGCACTCTACTCCTCACTGCTCTTGGGAGCCGGACAAGCTCTGACCGTCCCCAATCCTACCCCTGAGATAGGATAAGGATGGGCCCCTCTCACTTCTGCCCCTTCTTCCCTCCCAGGCCATTCGCGCCATTAACCCCTGCAGCGATACCACCATGACTGCAGAGGAGTTCACCGATACAGTGTTCTCCAAGATTGACGTCAACGGGGATGGTGAGGGGGCCGAGGAGGGGCTCCCCAGCGGAGGGGTCACCATGGATGTGGGGTCACCAGGGGTGGAAGGTCACTAAAGGAGAGGGTGAGGAAGGGAGGAGAGGCCCAAAGGCCCCCGTGCTGGTCACTTCCTCCACCTGCCTCTGCCCCAGCCACAAAGTTGGCTTTTAGGGGCCCCTGGACCAGAATCTGGGCTCTGGGTTCCTCTGCTTGCTGCACCCGCAGCAGGGGCTCTGACTTCTCCTCACGTGGGCTCTGTCCCTGCCCCTGGCAAGAACCCGGTTCTGTGCTCTGGACTGCAGAAATGAACACCCTCCTCCCCCTGATTCCCTTTCTCTCTACCCCAGGGGAACTCTCCCTGGAAGAGTTTATAGAGGGCGTCCAGAAGGACCAGATGCTCCTGGACACACTGACACGAAGCCTGGACCTTACCCGCATCGTGCGCAGGCTCCAGAATGGCGAGCAAGACGAGGAGGGGGCTGACGAGGCCGCTGAGGCAGCCGGCTGAGTGCACCGCCCGGCTGCTTCTGCACTAGCGGGTGGGGTGGTATGGTGGTGCCTGTTGGTGGTGTTCTTGTCTTAACCCTAGATAGAATCTAATGAACTCAGAGGCTTAGCTCGCCTCTTTAGGGTCCATGGTGGCAGCAGAGAGGCAGAAGTGGGAGTCCAGAGCCAGGAACAGTGAAGGATGGTTCCTGGCCCCTCTGAGTGACAGCTGGTGGCAGCACTCCTTGCTGGGGGGCACTGTTCAACATCCCTCTGCCGTCGGGTGACCCCCTAGCCCTTCTGACTCCTCTCCCAGCTTTTCCCAGCTTTCCCCACTGAGCTTCTCCAGTCCATGCTCTTCTGGACGTGGACTCTCTGAGGCAGAACTGAGCTTTTCCAGGCCTCTTATGGAATCCTGCAGATCCAGTGGCTGCAGCTTCAATCCCAGTGCTGCAATCACACATCCATTCTGCCCTGGGGGACCCTGGAGCCTACTTGTGCGCTTTGCATTTCATTGATTGACGCCTCCCTTCAACAAGCATTTACTGAGCGCCTACTATGTACTAATGCTAGATGTTAGATGTACAAAGAAGACAGTTTTCATCCTCTAGGAACTCATAGGCTAATGGTGAGACACACAGACAAACATCATTATAATAAAATATGCTAAGAGAAGTTATGAATAGATTTCTGTAGAAGACACCTACAGGCGTCTGACTCAGAGGCAGCATCACAGAGGTGACCTTTGACTTTGAACAGGAAAGAGTGCTTCGGGGCCGAATGTAGAGAAGAAGGTGATGCATGTGGGGTGGTTGGAGATGCATTCTCTGTGATGTATGTGTCACATGTGGGGGGCTGTGTGATGTGGACAGGAGCATTCTTAGGTGCAAATTTGGGGTATCCCTTGGGATTTAAATTTTACCAAATTTAAAACAGTAAGAATCACCATATCTGTTTTTAGGGAGTACCCCAGTAAGGGAAAACAAACAAACATAGCTTCTTCAAGAGATTTATAATCCTACTAGCAAGATAAGGATGGG
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ATACTGTCTTGACCCATTGTCATCAGCATGGAGCAGTTTAGCAGATTGGCTAGGAGATGGAACACAGGATTGGGAAGTTTTTGTTGTTGTTGTTGTTTTGTTTTTTGTTGTTGTTGTTGTTTTTTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGTCCAGAAGTTTTGATACAGAGAGGAGTTAAACAGGGACAGGCAAATGACAGCACACAGGCCTGTTTTTGTAAATGAAGTTTTATTAGAACTCACCACATCTATTTATTTACGTAGAGAATTGTCTATGGCTGCTTTCACGTAAAATGACAGAGGGTGTTTGGCTGCAAAGCTGCATATTTACTCTTTGGCTCTTTACAGAAAAAGTTTGCCATTTTCTAATAAAAACTAAAAAGTTTTTAGTGCAAGTGCCAGCCCTTGCACTAAAAAATGGTTGTATCTTTGGGTATTGCACCAGATGTGCAGGGCTGGGGAGTACAGAGTGTGACTGGGGAGTGAAACCTGGGGGACAGGCCATTTGCTTTGCTTACTTCAAATGTTTGTCTGGGCTTGGGTTTGTCTGACAATCACACAGGTGCACACAAATCAATGCAAATCTCCATCTGCATTTGAGTACTGATATAGGATGATTTAGGAGAGGCTTTGTCATTCACTAGCTGTTTGGCCTAATCTCTCTCAACTTTGGCTTTGTCATTCAAACTAGAGACAAAAATATTCACCTCTTGGGGGTGGCTTGAGATTAAATGAGTAAAATGAATAAAGCACTCAGCCTAGGAAGTCCATGGAGAGCACTAAGAAAAGTTAGTATTGCTATATATTTTCATTGAATCTAATGCATACCACAATCTTGAAAAGTGCACACTGTCATTCCATTTTATACCTGGGAATACGGAGACTCAAGGTCATGTGACTTATCCAAGGTGATTTAGATCTTTCTGGCACAAAAATCCACACCTTTTCCATTGCCCCTTTTTAGACATTAAAAAAAAAACCTGCAAAAGCAATCCAGCTCATTGTAGAAATTTCCAGCAATACAGAAAGATAAAAAATGAAGAGCAAAAGTATCCTCACCTGGTGTCCCCTCCCCCAGAGGAAACCTCTTTAGCAGTTTTCTTGCTTATTCAAGCTGTGCTGTCTAGGGGCCTCTCTGGGCTCTGTGCTGATGACAGTCCTGGGAGGTGGGTTGGGACTGAATGAGCCCACTGTGGGGTTCAGAGTGTTTAAGGCCTTCCGGGGGCCTCAGCCCCTCAGGCAGCAGGGTGAGAAACTCCCAAAAGCTCACCCAAACCACGCTCCCATCCCTGGGGGTGCAGTTCTTCCTCCTCCCACCTACGCACATGTCTCCCATTTCCCCTAACTGGAAAGGCTCATGCTTGACAATCACAGGGAAGCAGGCAGCGCTCGCTAAAACCCAGATGCCTGTGAACAGACAGCGCCAGCCATTCACACCCCAGTGGATGCTGGCTTATTAGATTTGATTGGCAGCCTCTGGAGTAGGCAGGGTGGGCTATACAGGGCGTCTAGGAAGACAGATAGGTCACGGCGGAGACAGGGCTGGCCCCCTCGCTGCATCTCCGAGGGTCCGGGTCTCCCCTCAGCGTCTCTTGGGGCTTGCCGAGATGGGCGGAGCCTTGGGTTATGATGGGCGGGGCCTGAGGCTGGAGTGAGCGGGGCCCGGATGGGCTCACGGCGGCCGCGCCCCTCGCCCAGGACGGCTACATTGATTTCATGGAGTACGTGGCAGCGCTCAGCTTGGTCCTCAAGGGGAAGGTGGAACAGAAGCTCCGCTGGTACTTCAAGCTCTGTGATGTAGATGGCAACGGCTGCATTGACCGCGATGAGCTGCTCACCATCATCCAGGTGCAGAGGGCCCGGCCAGGGCTGGGGGCAGCGGTCTGGGGTGGGACCCGGAACTGAGAGCCCAGGGTTAGAACAACAATCTCAGGATTGAGACAGGATGTGGGACTGAGGATCCTGGTGGCAGCTGTAGGCCTCACCAGCTGCGTGACCCAGGCCACGTTCCTTCCCTTCCTTGGCCTCAGTTTCCTCATCAATACCAAAAGACGATAGAAGTTTGACTCTTGAGTCCCAGCTCTGCCTAGGCCCCCGGGTACCCTGCACTCTACTCCTCACTGCTCTTGGGAGCCGGACAAGCTCTGACCGTCCCCAATCCTACCCCTGAGATAGGATAAGGATGGGCCCCTCTCACTTCTGCCCCTTCTTCCCTCCCAGGCCATTCGCGCCATTAACCCCTGCAGCGATACCACCATGACTGCAGAGGAGTTCACCGATACAGTGTTCTCCAAGATTGACGTCAACGGGGATGGTGAGGGGGCCGAGGAGGGGCTCCCCAGCGGAGGGGTCACCATGGATGTGGGGTCACCAGGGGTGGAAGGTCACTAAAGGAGAGGGTGAGGAAGGGAGGAGAGGCCCAAAGGCCCCCGTGCTGGTCACTTCCTCCACCTGCCTCTGCCCCAGCCACAAAGTTGGCTTTTAGGGGCCCCTGGACCAGAATCTGGGCTCTGGGTTCCTCTGCTTGCTGCACCCGCAGCAGGGGCTCTGACTTCTCCTCACGTGGGCTCTGTCCCTGCCCCTGGCAAGAACCCGGTTCTGTGCTCTGGACTGCAGAAATGAACACCCTCCTCCCCCTGATTCCCTTTCTCTCTACCCCAGGGGAACTCTCCCTGGAAGAGTTTATAGAGGGCGTCCAGAAGGACCAGATGCTCCTGGACACACTGACACGAAGCCTGGACCTTACCCGCATCGTGCGCAGGCTCCAGAATGGCGAGCAAGACGAGGAGGGGGCTGACGAGGCCGCTGAGGCAGCCGGCTGAGTGCACCGCCCGGCTGCTTCTGCACTAGCGGGTGGGGTGGTATGGTGGTGCCTGTTGGTGGTGTTCTTGTCTTAACCCTAGATAGAATCTAATGAACTCAGAGGCTTAGCTCGCCTCTTTAGGGTCCATGGTGGCAGCAGAGAGGCAGAAGTGGGAGTCCAGAGCCAGGAACAGTGAAGGATGGTTCCTGGCCCCTCTGAGTGACAGCTGGTGGCAGCACTCCTTGCTGGGGGGCACTGTTCAACATCCCTCTGCCGTCGGGTGACCCCCTAGCCCTTCTGACTCCTCTCCCAGCTTTTCCCAGCTTTCCCCACTGAGCTTCTCCAGTCCATGCTCTTCTGGACGTGGACTCTCTGAGGCAGAACTGAGCTTTTCCAGGCCTCTTATGGAATCCTGCAGATCCAGTGGCTGCAGCTTCAATCCCAGTGCTGCAATCACACATCCATTCTGCCCTGGGGGACCCTGGAGCCTACTTGTGCGCTTTGCATTTCATTGATTGACGCCTCCCTTCAACAAGCATTTACTGAGCGCCTACTATGTACTAATGCTAGATGTTAGATGTACAAAGAAGACAGTTTTCATCCTCTAGGAACTCATAGGCTAATGGTGAGACACACAGACAAACATCATTATAATAAAATATGCTAAGAGAAGTTATGAATAGATTTCTGTAGAAGACACCTACAGGCGTCTGACTCAGAGGCAGCATCACAGAGGTGACCTTTGACTTTGAACAGGAAAGAGTGCTTCGGGGCCGAATGTAGAGAAGAAGGTGATGCATGTGGGGTGGTTGGAGATGCATTCTCTGTGATGTATGTGTCACATGTGGGGGGCTGTGTGATGTGGACAGGAGCATTCTTAGGTGCAAATTTGGGGTATCCCTTGGGATTTAAATTTTACCAAATTTAAAACAGTAAGAATCACCATATCTGTTTTTAGGGAGTACCCCAGTAAGGGAAAACAAACAAACATAGCTTCTTCAAGAGATTTATAATCCTACTAGCAAGATAAGGATGGG
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Task1_train_10275
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A mutation found in GUCA1A, GUCA1ANB-GUCA1A (guanylate cyclase activator 1A| GUCA1ANB-GUCA1A readthrough) on Chromosome 6 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Cone dystrophy 3
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TTGTCATCAGCATGGAGCAGTTTAGCAGATTGGCTAGGAGATGGAACACAGGATTGGGAAGTTTTTGTTGTTGTTGTTGTTTTGTTTTTTGTTGTTGTTGTTGTTTTTTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGTCCAGAAGTTTTGATACAGAGAGGAGTTAAACAGGGACAGGCAAATGACAGCACACAGGCCTGTTTTTGTAAATGAAGTTTTATTAGAACTCACCACATCTATTTATTTACGTAGAGAATTGTCTATGGCTGCTTTCACGTAAAATGACAGAGGGTGTTTGGCTGCAAAGCTGCATATTTACTCTTTGGCTCTTTACAGAAAAAGTTTGCCATTTTCTAATAAAAACTAAAAAGTTTTTAGTGCAAGTGCCAGCCCTTGCACTAAAAAATGGTTGTATCTTTGGGTATTGCACCAGATGTGCAGGGCTGGGGAGTACAGAGTGTGACTGGGGAGTGAAACCTGGGGGACAGGCCATTTGCTTTGCTTACTTCAAATGTTTGTCTGGGCTTGGGTTTGTCTGACAATCACACAGGTGCACACAAATCAATGCAAATCTCCATCTGCATTTGAGTACTGATATAGGATGATTTAGGAGAGGCTTTGTCATTCACTAGCTGTTTGGCCTAATCTCTCTCAACTTTGGCTTTGTCATTCAAACTAGAGACAAAAATATTCACCTCTTGGGGGTGGCTTGAGATTAAATGAGTAAAATGAATAAAGCACTCAGCCTAGGAAGTCCATGGAGAGCACTAAGAAAAGTTAGTATTGCTATATATTTTCATTGAATCTAATGCATACCACAATCTTGAAAAGTGCACACTGTCATTCCATTTTATACCTGGGAATACGGAGACTCAAGGTCATGTGACTTATCCAAGGTGATTTAGATCTTTCTGGCACAAAAATCCACACCTTTTCCATTGCCCCTTTTTAGACATTAAAAAAAAAACCTGCAAAAGCAATCCAGCTCATTGTAGAAATTTCCAGCAATACAGAAAGATAAAAAATGAAGAGCAAAAGTATCCTCACCTGGTGTCCCCTCCCCCAGAGGAAACCTCTTTAGCAGTTTTCTTGCTTATTCAAGCTGTGCTGTCTAGGGGCCTCTCTGGGCTCTGTGCTGATGACAGTCCTGGGAGGTGGGTTGGGACTGAATGAGCCCACTGTGGGGTTCAGAGTGTTTAAGGCCTTCCGGGGGCCTCAGCCCCTCAGGCAGCAGGGTGAGAAACTCCCAAAAGCTCACCCAAACCACGCTCCCATCCCTGGGGGTGCAGTTCTTCCTCCTCCCACCTACGCACATGTCTCCCATTTCCCCTAACTGGAAAGGCTCATGCTTGACAATCACAGGGAAGCAGGCAGCGCTCGCTAAAACCCAGATGCCTGTGAACAGACAGCGCCAGCCATTCACACCCCAGTGGATGCTGGCTTATTAGATTTGATTGGCAGCCTCTGGAGTAGGCAGGGTGGGCTATACAGGGCGTCTAGGAAGACAGATAGGTCACGGCGGAGACAGGGCTGGCCCCCTCGCTGCATCTCCGAGGGTCCGGGTCTCCCCTCAGCGTCTCTTGGGGCTTGCCGAGATGGGCGGAGCCTTGGGTTATGATGGGCGGGGCCTGAGGCTGGAGTGAGCGGGGCCCGGATGGGCTCACGGCGGCCGCGCCCCTCGCCCAGGACGGCTACATTGATTTCATGGAGTACGTGGCAGCGCTCAGCTTGGTCCTCAAGGGGAAGGTGGAACAGAAGCTCCGCTGGTACTTCAAGCTCTATGATGTAGATGGCAACGGCTGCATTGACCGCGATGAGCTGCTCACCATCATCCAGGTGCAGAGGGCCCGGCCAGGGCTGGGGGCAGCGGTCTGGGGTGGGACCCGGAACTGAGAGCCCAGGGTTAGAACAACAATCTCAGGATTGAGACAGGATGTGGGACTGAGGATCCTGGTGGCAGCTGTAGGCCTCACCAGCTGCGTGACCCAGGCCACGTTCCTTCCCTTCCTTGGCCTCAGTTTCCTCATCAATACCAAAAGACGATAGAAGTTTGACTCTTGAGTCCCAGCTCTGCCTAGGCCCCCGGGTACCCTGCACTCTACTCCTCACTGCTCTTGGGAGCCGGACAAGCTCTGACCGTCCCCAATCCTACCCCTGAGATAGGATAAGGATGGGCCCCTCTCACTTCTGCCCCTTCTTCCCTCCCAGGCCATTCGCGCCATTAACCCCTGCAGCGATACCACCATGACTGCAGAGGAGTTCACCGATACAGTGTTCTCCAAGATTGACGTCAACGGGGATGGTGAGGGGGCCGAGGAGGGGCTCCCCAGCGGAGGGGTCACCATGGATGTGGGGTCACCAGGGGTGGAAGGTCACTAAAGGAGAGGGTGAGGAAGGGAGGAGAGGCCCAAAGGCCCCCGTGCTGGTCACTTCCTCCACCTGCCTCTGCCCCAGCCACAAAGTTGGCTTTTAGGGGCCCCTGGACCAGAATCTGGGCTCTGGGTTCCTCTGCTTGCTGCACCCGCAGCAGGGGCTCTGACTTCTCCTCACGTGGGCTCTGTCCCTGCCCCTGGCAAGAACCCGGTTCTGTGCTCTGGACTGCAGAAATGAACACCCTCCTCCCCCTGATTCCCTTTCTCTCTACCCCAGGGGAACTCTCCCTGGAAGAGTTTATAGAGGGCGTCCAGAAGGACCAGATGCTCCTGGACACACTGACACGAAGCCTGGACCTTACCCGCATCGTGCGCAGGCTCCAGAATGGCGAGCAAGACGAGGAGGGGGCTGACGAGGCCGCTGAGGCAGCCGGCTGAGTGCACCGCCCGGCTGCTTCTGCACTAGCGGGTGGGGTGGTATGGTGGTGCCTGTTGGTGGTGTTCTTGTCTTAACCCTAGATAGAATCTAATGAACTCAGAGGCTTAGCTCGCCTCTTTAGGGTCCATGGTGGCAGCAGAGAGGCAGAAGTGGGAGTCCAGAGCCAGGAACAGTGAAGGATGGTTCCTGGCCCCTCTGAGTGACAGCTGGTGGCAGCACTCCTTGCTGGGGGGCACTGTTCAACATCCCTCTGCCGTCGGGTGACCCCCTAGCCCTTCTGACTCCTCTCCCAGCTTTTCCCAGCTTTCCCCACTGAGCTTCTCCAGTCCATGCTCTTCTGGACGTGGACTCTCTGAGGCAGAACTGAGCTTTTCCAGGCCTCTTATGGAATCCTGCAGATCCAGTGGCTGCAGCTTCAATCCCAGTGCTGCAATCACACATCCATTCTGCCCTGGGGGACCCTGGAGCCTACTTGTGCGCTTTGCATTTCATTGATTGACGCCTCCCTTCAACAAGCATTTACTGAGCGCCTACTATGTACTAATGCTAGATGTTAGATGTACAAAGAAGACAGTTTTCATCCTCTAGGAACTCATAGGCTAATGGTGAGACACACAGACAAACATCATTATAATAAAATATGCTAAGAGAAGTTATGAATAGATTTCTGTAGAAGACACCTACAGGCGTCTGACTCAGAGGCAGCATCACAGAGGTGACCTTTGACTTTGAACAGGAAAGAGTGCTTCGGGGCCGAATGTAGAGAAGAAGGTGATGCATGTGGGGTGGTTGGAGATGCATTCTCTGTGATGTATGTGTCACATGTGGGGGGCTGTGTGATGTGGACAGGAGCATTCTTAGGTGCAAATTTGGGGTATCCCTTGGGATTTAAATTTTACCAAATTTAAAACAGTAAGAATCACCATATCTGTTTTTAGGGAGTACCCCAGTAAGGGAAAACAAACAAACATAGCTTCTTCAAGAGATTTATAATCCTACTAGCAAGATAAGGATGGGATGTTTTGCCAGGTGT
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TTGTCATCAGCATGGAGCAGTTTAGCAGATTGGCTAGGAGATGGAACACAGGATTGGGAAGTTTTTGTTGTTGTTGTTGTTTTGTTTTTTGTTGTTGTTGTTGTTTTTTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGTCCAGAAGTTTTGATACAGAGAGGAGTTAAACAGGGACAGGCAAATGACAGCACACAGGCCTGTTTTTGTAAATGAAGTTTTATTAGAACTCACCACATCTATTTATTTACGTAGAGAATTGTCTATGGCTGCTTTCACGTAAAATGACAGAGGGTGTTTGGCTGCAAAGCTGCATATTTACTCTTTGGCTCTTTACAGAAAAAGTTTGCCATTTTCTAATAAAAACTAAAAAGTTTTTAGTGCAAGTGCCAGCCCTTGCACTAAAAAATGGTTGTATCTTTGGGTATTGCACCAGATGTGCAGGGCTGGGGAGTACAGAGTGTGACTGGGGAGTGAAACCTGGGGGACAGGCCATTTGCTTTGCTTACTTCAAATGTTTGTCTGGGCTTGGGTTTGTCTGACAATCACACAGGTGCACACAAATCAATGCAAATCTCCATCTGCATTTGAGTACTGATATAGGATGATTTAGGAGAGGCTTTGTCATTCACTAGCTGTTTGGCCTAATCTCTCTCAACTTTGGCTTTGTCATTCAAACTAGAGACAAAAATATTCACCTCTTGGGGGTGGCTTGAGATTAAATGAGTAAAATGAATAAAGCACTCAGCCTAGGAAGTCCATGGAGAGCACTAAGAAAAGTTAGTATTGCTATATATTTTCATTGAATCTAATGCATACCACAATCTTGAAAAGTGCACACTGTCATTCCATTTTATACCTGGGAATACGGAGACTCAAGGTCATGTGACTTATCCAAGGTGATTTAGATCTTTCTGGCACAAAAATCCACACCTTTTCCATTGCCCCTTTTTAGACATTAAAAAAAAAACCTGCAAAAGCAATCCAGCTCATTGTAGAAATTTCCAGCAATACAGAAAGATAAAAAATGAAGAGCAAAAGTATCCTCACCTGGTGTCCCCTCCCCCAGAGGAAACCTCTTTAGCAGTTTTCTTGCTTATTCAAGCTGTGCTGTCTAGGGGCCTCTCTGGGCTCTGTGCTGATGACAGTCCTGGGAGGTGGGTTGGGACTGAATGAGCCCACTGTGGGGTTCAGAGTGTTTAAGGCCTTCCGGGGGCCTCAGCCCCTCAGGCAGCAGGGTGAGAAACTCCCAAAAGCTCACCCAAACCACGCTCCCATCCCTGGGGGTGCAGTTCTTCCTCCTCCCACCTACGCACATGTCTCCCATTTCCCCTAACTGGAAAGGCTCATGCTTGACAATCACAGGGAAGCAGGCAGCGCTCGCTAAAACCCAGATGCCTGTGAACAGACAGCGCCAGCCATTCACACCCCAGTGGATGCTGGCTTATTAGATTTGATTGGCAGCCTCTGGAGTAGGCAGGGTGGGCTATACAGGGCGTCTAGGAAGACAGATAGGTCACGGCGGAGACAGGGCTGGCCCCCTCGCTGCATCTCCGAGGGTCCGGGTCTCCCCTCAGCGTCTCTTGGGGCTTGCCGAGATGGGCGGAGCCTTGGGTTATGATGGGCGGGGCCTGAGGCTGGAGTGAGCGGGGCCCGGATGGGCTCACGGCGGCCGCGCCCCTCGCCCAGGACGGCTACATTGATTTCATGGAGTACGTGGCAGCGCTCAGCTTGGTCCTCAAGGGGAAGGTGGAACAGAAGCTCCGCTGGTACTTCAAGCTCTATGATGTAGATGGCAAGGGCTGCATTGACCGCGATGAGCTGCTCACCATCATCCAGGTGCAGAGGGCCCGGCCAGGGCTGGGGGCAGCGGTCTGGGGTGGGACCCGGAACTGAGAGCCCAGGGTTAGAACAACAATCTCAGGATTGAGACAGGATGTGGGACTGAGGATCCTGGTGGCAGCTGTAGGCCTCACCAGCTGCGTGACCCAGGCCACGTTCCTTCCCTTCCTTGGCCTCAGTTTCCTCATCAATACCAAAAGACGATAGAAGTTTGACTCTTGAGTCCCAGCTCTGCCTAGGCCCCCGGGTACCCTGCACTCTACTCCTCACTGCTCTTGGGAGCCGGACAAGCTCTGACCGTCCCCAATCCTACCCCTGAGATAGGATAAGGATGGGCCCCTCTCACTTCTGCCCCTTCTTCCCTCCCAGGCCATTCGCGCCATTAACCCCTGCAGCGATACCACCATGACTGCAGAGGAGTTCACCGATACAGTGTTCTCCAAGATTGACGTCAACGGGGATGGTGAGGGGGCCGAGGAGGGGCTCCCCAGCGGAGGGGTCACCATGGATGTGGGGTCACCAGGGGTGGAAGGTCACTAAAGGAGAGGGTGAGGAAGGGAGGAGAGGCCCAAAGGCCCCCGTGCTGGTCACTTCCTCCACCTGCCTCTGCCCCAGCCACAAAGTTGGCTTTTAGGGGCCCCTGGACCAGAATCTGGGCTCTGGGTTCCTCTGCTTGCTGCACCCGCAGCAGGGGCTCTGACTTCTCCTCACGTGGGCTCTGTCCCTGCCCCTGGCAAGAACCCGGTTCTGTGCTCTGGACTGCAGAAATGAACACCCTCCTCCCCCTGATTCCCTTTCTCTCTACCCCAGGGGAACTCTCCCTGGAAGAGTTTATAGAGGGCGTCCAGAAGGACCAGATGCTCCTGGACACACTGACACGAAGCCTGGACCTTACCCGCATCGTGCGCAGGCTCCAGAATGGCGAGCAAGACGAGGAGGGGGCTGACGAGGCCGCTGAGGCAGCCGGCTGAGTGCACCGCCCGGCTGCTTCTGCACTAGCGGGTGGGGTGGTATGGTGGTGCCTGTTGGTGGTGTTCTTGTCTTAACCCTAGATAGAATCTAATGAACTCAGAGGCTTAGCTCGCCTCTTTAGGGTCCATGGTGGCAGCAGAGAGGCAGAAGTGGGAGTCCAGAGCCAGGAACAGTGAAGGATGGTTCCTGGCCCCTCTGAGTGACAGCTGGTGGCAGCACTCCTTGCTGGGGGGCACTGTTCAACATCCCTCTGCCGTCGGGTGACCCCCTAGCCCTTCTGACTCCTCTCCCAGCTTTTCCCAGCTTTCCCCACTGAGCTTCTCCAGTCCATGCTCTTCTGGACGTGGACTCTCTGAGGCAGAACTGAGCTTTTCCAGGCCTCTTATGGAATCCTGCAGATCCAGTGGCTGCAGCTTCAATCCCAGTGCTGCAATCACACATCCATTCTGCCCTGGGGGACCCTGGAGCCTACTTGTGCGCTTTGCATTTCATTGATTGACGCCTCCCTTCAACAAGCATTTACTGAGCGCCTACTATGTACTAATGCTAGATGTTAGATGTACAAAGAAGACAGTTTTCATCCTCTAGGAACTCATAGGCTAATGGTGAGACACACAGACAAACATCATTATAATAAAATATGCTAAGAGAAGTTATGAATAGATTTCTGTAGAAGACACCTACAGGCGTCTGACTCAGAGGCAGCATCACAGAGGTGACCTTTGACTTTGAACAGGAAAGAGTGCTTCGGGGCCGAATGTAGAGAAGAAGGTGATGCATGTGGGGTGGTTGGAGATGCATTCTCTGTGATGTATGTGTCACATGTGGGGGGCTGTGTGATGTGGACAGGAGCATTCTTAGGTGCAAATTTGGGGTATCCCTTGGGATTTAAATTTTACCAAATTTAAAACAGTAAGAATCACCATATCTGTTTTTAGGGAGTACCCCAGTAAGGGAAAACAAACAAACATAGCTTCTTCAAGAGATTTATAATCCTACTAGCAAGATAAGGATGGGATGTTTTGCCAGGTGT
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Task1_train_10276
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This mutation is located in gene GUCA1A, GUCA1ANB-GUCA1A (guanylate cyclase activator 1A| GUCA1ANB-GUCA1A readthrough) on Chromosome 6. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Retinal dystrophy
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TTAGGAGAGGCTTTGTCATTCACTAGCTGTTTGGCCTAATCTCTCTCAACTTTGGCTTTGTCATTCAAACTAGAGACAAAAATATTCACCTCTTGGGGGTGGCTTGAGATTAAATGAGTAAAATGAATAAAGCACTCAGCCTAGGAAGTCCATGGAGAGCACTAAGAAAAGTTAGTATTGCTATATATTTTCATTGAATCTAATGCATACCACAATCTTGAAAAGTGCACACTGTCATTCCATTTTATACCTGGGAATACGGAGACTCAAGGTCATGTGACTTATCCAAGGTGATTTAGATCTTTCTGGCACAAAAATCCACACCTTTTCCATTGCCCCTTTTTAGACATTAAAAAAAAAACCTGCAAAAGCAATCCAGCTCATTGTAGAAATTTCCAGCAATACAGAAAGATAAAAAATGAAGAGCAAAAGTATCCTCACCTGGTGTCCCCTCCCCCAGAGGAAACCTCTTTAGCAGTTTTCTTGCTTATTCAAGCTGTGCTGTCTAGGGGCCTCTCTGGGCTCTGTGCTGATGACAGTCCTGGGAGGTGGGTTGGGACTGAATGAGCCCACTGTGGGGTTCAGAGTGTTTAAGGCCTTCCGGGGGCCTCAGCCCCTCAGGCAGCAGGGTGAGAAACTCCCAAAAGCTCACCCAAACCACGCTCCCATCCCTGGGGGTGCAGTTCTTCCTCCTCCCACCTACGCACATGTCTCCCATTTCCCCTAACTGGAAAGGCTCATGCTTGACAATCACAGGGAAGCAGGCAGCGCTCGCTAAAACCCAGATGCCTGTGAACAGACAGCGCCAGCCATTCACACCCCAGTGGATGCTGGCTTATTAGATTTGATTGGCAGCCTCTGGAGTAGGCAGGGTGGGCTATACAGGGCGTCTAGGAAGACAGATAGGTCACGGCGGAGACAGGGCTGGCCCCCTCGCTGCATCTCCGAGGGTCCGGGTCTCCCCTCAGCGTCTCTTGGGGCTTGCCGAGATGGGCGGAGCCTTGGGTTATGATGGGCGGGGCCTGAGGCTGGAGTGAGCGGGGCCCGGATGGGCTCACGGCGGCCGCGCCCCTCGCCCAGGACGGCTACATTGATTTCATGGAGTACGTGGCAGCGCTCAGCTTGGTCCTCAAGGGGAAGGTGGAACAGAAGCTCCGCTGGTACTTCAAGCTCTATGATGTAGATGGCAACGGCTGCATTGACCGCGATGAGCTGCTCACCATCATCCAGGTGCAGAGGGCCCGGCCAGGGCTGGGGGCAGCGGTCTGGGGTGGGACCCGGAACTGAGAGCCCAGGGTTAGAACAACAATCTCAGGATTGAGACAGGATGTGGGACTGAGGATCCTGGTGGCAGCTGTAGGCCTCACCAGCTGCGTGACCCAGGCCACGTTCCTTCCCTTCCTTGGCCTCAGTTTCCTCATCAATACCAAAAGACGATAGAAGTTTGACTCTTGAGTCCCAGCTCTGCCTAGGCCCCCGGGTACCCTGCACTCTACTCCTCACTGCTCTTGGGAGCCGGACAAGCTCTGACCGTCCCCAATCCTACCCCTGAGATAGGATAAGGATGGGCCCCTCTCACTTCTGCCCCTTCTTCCCTCCCAGGCCATTCGCGCCATTAACCCCTGCAGCGATACCACCATGACTGCAGAGGAGTTCACCGATACAGTGTTCTCCAAGATTGACGTCAACGGGGATGGTGAGGGGGCCGAGGAGGGGCTCCCCAGCGGAGGGGTCACCATGGATGTGGGGTCACCAGGGGTGGAAGGTCACTAAAGGAGAGGGTGAGGAAGGGAGGAGAGGCCCAAAGGCCCCCGTGCTGGTCACTTCCTCCACCTGCCTCTGCCCCAGCCACAAAGTTGGCTTTTAGGGGCCCCTGGACCAGAATCTGGGCTCTGGGTTCCTCTGCTTGCTGCACCCGCAGCAGGGGCTCTGACTTCTCCTCACGTGGGCTCTGTCCCTGCCCCTGGCAAGAACCCGGTTCTGTGCTCTGGACTGCAGAAATGAACACCCTCCTCCCCCTGATTCCCTTTCTCTCTACCCCAGGGGAACTCTCCCTGGAAGAGTTTATAGAGGGCGTCCAGAAGGACCAGATGCTCCTGGACACACTGACACGAAGCCTGGACCTTACCCGCATCGTGCGCAGGCTCCAGAATGGCGAGCAAGACGAGGAGGGGGCTGACGAGGCCGCTGAGGCAGCCGGCTGAGTGCACCGCCCGGCTGCTTCTGCACTAGCGGGTGGGGTGGTATGGTGGTGCCTGTTGGTGGTGTTCTTGTCTTAACCCTAGATAGAATCTAATGAACTCAGAGGCTTAGCTCGCCTCTTTAGGGTCCATGGTGGCAGCAGAGAGGCAGAAGTGGGAGTCCAGAGCCAGGAACAGTGAAGGATGGTTCCTGGCCCCTCTGAGTGACAGCTGGTGGCAGCACTCCTTGCTGGGGGGCACTGTTCAACATCCCTCTGCCGTCGGGTGACCCCCTAGCCCTTCTGACTCCTCTCCCAGCTTTTCCCAGCTTTCCCCACTGAGCTTCTCCAGTCCATGCTCTTCTGGACGTGGACTCTCTGAGGCAGAACTGAGCTTTTCCAGGCCTCTTATGGAATCCTGCAGATCCAGTGGCTGCAGCTTCAATCCCAGTGCTGCAATCACACATCCATTCTGCCCTGGGGGACCCTGGAGCCTACTTGTGCGCTTTGCATTTCATTGATTGACGCCTCCCTTCAACAAGCATTTACTGAGCGCCTACTATGTACTAATGCTAGATGTTAGATGTACAAAGAAGACAGTTTTCATCCTCTAGGAACTCATAGGCTAATGGTGAGACACACAGACAAACATCATTATAATAAAATATGCTAAGAGAAGTTATGAATAGATTTCTGTAGAAGACACCTACAGGCGTCTGACTCAGAGGCAGCATCACAGAGGTGACCTTTGACTTTGAACAGGAAAGAGTGCTTCGGGGCCGAATGTAGAGAAGAAGGTGATGCATGTGGGGTGGTTGGAGATGCATTCTCTGTGATGTATGTGTCACATGTGGGGGGCTGTGTGATGTGGACAGGAGCATTCTTAGGTGCAAATTTGGGGTATCCCTTGGGATTTAAATTTTACCAAATTTAAAACAGTAAGAATCACCATATCTGTTTTTAGGGAGTACCCCAGTAAGGGAAAACAAACAAACATAGCTTCTTCAAGAGATTTATAATCCTACTAGCAAGATAAGGATGGGATGTTTTGCCAGGTGTGGTGGTAAATGCCTGTGATCCCCAATACTCAGGAGGCTAAGGTGGGAGGATCCCTTGAGCCGAGGGGTTCAAGACAAGCCCAGGCAACATAGTGAGACCCCTCTTCAAAAAGATAAAAGGGAGCCGGGAGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTATGGTAGTGTGCTCCTGTAATCCCAGCTACCTGGGAGGCTGAGGCAGAAGAATTGCATGAACCAGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGACAACAGAGTAAGACTCTGTCTAAAAAAAATAAACAAATAAATAAAAAGAAAAAAAGGGTGGAATATTTAGATGACAGTGTAGATCTGAATCTGAATGCATGTGCATGCATTCACTCTGGGAAGCTTTAGTGTCGGCCAAAAAGTGAAAGAGGGTGGGTGGTTCTGCAAAAAATCCTCATTTCTCAAGAAGAAATCCATACTTTTTCAGAAGAGCCTGCGCAAGTCCCTTATACTTCCCCTCCTTGGTGACATGTGGTGTTCCATGGCTCCCCACAGATCTGCGACTCATCGCTCGTTGCAAATAATCTATCCCTGGTCTAACCTAAATCCCTCTTGCTGCAGTGACACCTGATACCAGTTGGGAAGTGGAACAGTCTGTTACAGGTGGGCCCCATCCGCATCTTTGCACATCTCAGCTTTAAGAATACCCAACTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG
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TTAGGAGAGGCTTTGTCATTCACTAGCTGTTTGGCCTAATCTCTCTCAACTTTGGCTTTGTCATTCAAACTAGAGACAAAAATATTCACCTCTTGGGGGTGGCTTGAGATTAAATGAGTAAAATGAATAAAGCACTCAGCCTAGGAAGTCCATGGAGAGCACTAAGAAAAGTTAGTATTGCTATATATTTTCATTGAATCTAATGCATACCACAATCTTGAAAAGTGCACACTGTCATTCCATTTTATACCTGGGAATACGGAGACTCAAGGTCATGTGACTTATCCAAGGTGATTTAGATCTTTCTGGCACAAAAATCCACACCTTTTCCATTGCCCCTTTTTAGACATTAAAAAAAAAACCTGCAAAAGCAATCCAGCTCATTGTAGAAATTTCCAGCAATACAGAAAGATAAAAAATGAAGAGCAAAAGTATCCTCACCTGGTGTCCCCTCCCCCAGAGGAAACCTCTTTAGCAGTTTTCTTGCTTATTCAAGCTGTGCTGTCTAGGGGCCTCTCTGGGCTCTGTGCTGATGACAGTCCTGGGAGGTGGGTTGGGACTGAATGAGCCCACTGTGGGGTTCAGAGTGTTTAAGGCCTTCCGGGGGCCTCAGCCCCTCAGGCAGCAGGGTGAGAAACTCCCAAAAGCTCACCCAAACCACGCTCCCATCCCTGGGGGTGCAGTTCTTCCTCCTCCCACCTACGCACATGTCTCCCATTTCCCCTAACTGGAAAGGCTCATGCTTGACAATCACAGGGAAGCAGGCAGCGCTCGCTAAAACCCAGATGCCTGTGAACAGACAGCGCCAGCCATTCACACCCCAGTGGATGCTGGCTTATTAGATTTGATTGGCAGCCTCTGGAGTAGGCAGGGTGGGCTATACAGGGCGTCTAGGAAGACAGATAGGTCACGGCGGAGACAGGGCTGGCCCCCTCGCTGCATCTCCGAGGGTCCGGGTCTCCCCTCAGCGTCTCTTGGGGCTTGCCGAGATGGGCGGAGCCTTGGGTTATGATGGGCGGGGCCTGAGGCTGGAGTGAGCGGGGCCCGGATGGGCTCACGGCGGCCGCGCCCCTCGCCCAGGACGGCTACATTGATTTCATGGAGTACGTGGCAGCGCTCAGCTTGGTCCTCAAGGGGAAGGTGGAACAGAAGCTCCGCTGGTACTTCAAGCTCTATGATGTAGATGGCAACGGCTGCATTGACCGCGATGAGCTGCTCACCATCATCCAGGTGCAGAGGGCCCGGCCAGGGCTGGGGGCAGCGGTCTGGGGTGGGACCCGGAACTGAGAGCCCAGGGTTAGAACAACAATCTCAGGATTGAGACAGGATGTGGGACTGAGGATCCTGGTGGCAGCTGTAGGCCTCACCAGCTGCGTGACCCAGGCCACGTTCCTTCCCTTCCTTGGCCTCAGTTTCCTCATCAATACCAAAAGACGATAGAAGTTTGACTCTTGAGTCCCAGCTCTGCCTAGGCCCCCGGGTACCCTGCACTCTACTCCTCACTGCTCTTGGGAGCCGGACAAGCTCTGACCGTCCCCAATCCTACCCCTGAGATAGGATAAGGATGGGCCCCTCTCACTTCTGCCCCTTCTTCCCTCCCAGGCCATTCGCGCCATTAACCCCTGCAGCGATACCACCATGACTGCAGAGGAGTTCACCGATACAGTGTTCTCCAAGATTGACGTCAACGGGGATGGTGAGGGGGCCGAGGAGGGGCTCCCCAGCGGAGGGGTCACCATGGATGTGGGGTCACCAGGGGTGGAAGGTCACTAAAGGAGAGGGTGAGGAAGGGAGGAGAGGCCCAAAGGCCCCCGTGCTGGTCACTTCCTCCACCTGCCTCTGCCCCAGCCACAAAGTTGGCTTTTAGGGGCCCCTGGACCAGAATCTGGGCTCTGGGTTCCTCTGCTTGCTGCACCCGCAGCAGGGGCTCTGACTTCTCCTCACGTGGGCTCTGTCCCTGCCCCTGGCAAGAACCCGGTTCTGTGCTCTGGACTGCAGAAATGAACACCCTCCTCCCCCTGATTCCCTTTCTCTCTACCCCAGGGGAATTCTCCCTGGAAGAGTTTATAGAGGGCGTCCAGAAGGACCAGATGCTCCTGGACACACTGACACGAAGCCTGGACCTTACCCGCATCGTGCGCAGGCTCCAGAATGGCGAGCAAGACGAGGAGGGGGCTGACGAGGCCGCTGAGGCAGCCGGCTGAGTGCACCGCCCGGCTGCTTCTGCACTAGCGGGTGGGGTGGTATGGTGGTGCCTGTTGGTGGTGTTCTTGTCTTAACCCTAGATAGAATCTAATGAACTCAGAGGCTTAGCTCGCCTCTTTAGGGTCCATGGTGGCAGCAGAGAGGCAGAAGTGGGAGTCCAGAGCCAGGAACAGTGAAGGATGGTTCCTGGCCCCTCTGAGTGACAGCTGGTGGCAGCACTCCTTGCTGGGGGGCACTGTTCAACATCCCTCTGCCGTCGGGTGACCCCCTAGCCCTTCTGACTCCTCTCCCAGCTTTTCCCAGCTTTCCCCACTGAGCTTCTCCAGTCCATGCTCTTCTGGACGTGGACTCTCTGAGGCAGAACTGAGCTTTTCCAGGCCTCTTATGGAATCCTGCAGATCCAGTGGCTGCAGCTTCAATCCCAGTGCTGCAATCACACATCCATTCTGCCCTGGGGGACCCTGGAGCCTACTTGTGCGCTTTGCATTTCATTGATTGACGCCTCCCTTCAACAAGCATTTACTGAGCGCCTACTATGTACTAATGCTAGATGTTAGATGTACAAAGAAGACAGTTTTCATCCTCTAGGAACTCATAGGCTAATGGTGAGACACACAGACAAACATCATTATAATAAAATATGCTAAGAGAAGTTATGAATAGATTTCTGTAGAAGACACCTACAGGCGTCTGACTCAGAGGCAGCATCACAGAGGTGACCTTTGACTTTGAACAGGAAAGAGTGCTTCGGGGCCGAATGTAGAGAAGAAGGTGATGCATGTGGGGTGGTTGGAGATGCATTCTCTGTGATGTATGTGTCACATGTGGGGGGCTGTGTGATGTGGACAGGAGCATTCTTAGGTGCAAATTTGGGGTATCCCTTGGGATTTAAATTTTACCAAATTTAAAACAGTAAGAATCACCATATCTGTTTTTAGGGAGTACCCCAGTAAGGGAAAACAAACAAACATAGCTTCTTCAAGAGATTTATAATCCTACTAGCAAGATAAGGATGGGATGTTTTGCCAGGTGTGGTGGTAAATGCCTGTGATCCCCAATACTCAGGAGGCTAAGGTGGGAGGATCCCTTGAGCCGAGGGGTTCAAGACAAGCCCAGGCAACATAGTGAGACCCCTCTTCAAAAAGATAAAAGGGAGCCGGGAGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTATGGTAGTGTGCTCCTGTAATCCCAGCTACCTGGGAGGCTGAGGCAGAAGAATTGCATGAACCAGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGACAACAGAGTAAGACTCTGTCTAAAAAAAATAAACAAATAAATAAAAAGAAAAAAAGGGTGGAATATTTAGATGACAGTGTAGATCTGAATCTGAATGCATGTGCATGCATTCACTCTGGGAAGCTTTAGTGTCGGCCAAAAAGTGAAAGAGGGTGGGTGGTTCTGCAAAAAATCCTCATTTCTCAAGAAGAAATCCATACTTTTTCAGAAGAGCCTGCGCAAGTCCCTTATACTTCCCCTCCTTGGTGACATGTGGTGTTCCATGGCTCCCCACAGATCTGCGACTCATCGCTCGTTGCAAATAATCTATCCCTGGTCTAACCTAAATCCCTCTTGCTGCAGTGACACCTGATACCAGTTGGGAAGTGGAACAGTCTGTTACAGGTGGGCCCCATCCGCATCTTTGCACATCTCAGCTTTAAGAATACCCAACTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG
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Task1_train_10277
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Consider this mutation in GUCA1A, GUCA1ANB-GUCA1A (guanylate cyclase activator 1A| GUCA1ANB-GUCA1A readthrough) on Chromosome 6. Is this a benign change or a disease-causing variant?
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Pathogenic; Cone dystrophy 3
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TGTCATTCACTAGCTGTTTGGCCTAATCTCTCTCAACTTTGGCTTTGTCATTCAAACTAGAGACAAAAATATTCACCTCTTGGGGGTGGCTTGAGATTAAATGAGTAAAATGAATAAAGCACTCAGCCTAGGAAGTCCATGGAGAGCACTAAGAAAAGTTAGTATTGCTATATATTTTCATTGAATCTAATGCATACCACAATCTTGAAAAGTGCACACTGTCATTCCATTTTATACCTGGGAATACGGAGACTCAAGGTCATGTGACTTATCCAAGGTGATTTAGATCTTTCTGGCACAAAAATCCACACCTTTTCCATTGCCCCTTTTTAGACATTAAAAAAAAAACCTGCAAAAGCAATCCAGCTCATTGTAGAAATTTCCAGCAATACAGAAAGATAAAAAATGAAGAGCAAAAGTATCCTCACCTGGTGTCCCCTCCCCCAGAGGAAACCTCTTTAGCAGTTTTCTTGCTTATTCAAGCTGTGCTGTCTAGGGGCCTCTCTGGGCTCTGTGCTGATGACAGTCCTGGGAGGTGGGTTGGGACTGAATGAGCCCACTGTGGGGTTCAGAGTGTTTAAGGCCTTCCGGGGGCCTCAGCCCCTCAGGCAGCAGGGTGAGAAACTCCCAAAAGCTCACCCAAACCACGCTCCCATCCCTGGGGGTGCAGTTCTTCCTCCTCCCACCTACGCACATGTCTCCCATTTCCCCTAACTGGAAAGGCTCATGCTTGACAATCACAGGGAAGCAGGCAGCGCTCGCTAAAACCCAGATGCCTGTGAACAGACAGCGCCAGCCATTCACACCCCAGTGGATGCTGGCTTATTAGATTTGATTGGCAGCCTCTGGAGTAGGCAGGGTGGGCTATACAGGGCGTCTAGGAAGACAGATAGGTCACGGCGGAGACAGGGCTGGCCCCCTCGCTGCATCTCCGAGGGTCCGGGTCTCCCCTCAGCGTCTCTTGGGGCTTGCCGAGATGGGCGGAGCCTTGGGTTATGATGGGCGGGGCCTGAGGCTGGAGTGAGCGGGGCCCGGATGGGCTCACGGCGGCCGCGCCCCTCGCCCAGGACGGCTACATTGATTTCATGGAGTACGTGGCAGCGCTCAGCTTGGTCCTCAAGGGGAAGGTGGAACAGAAGCTCCGCTGGTACTTCAAGCTCTATGATGTAGATGGCAACGGCTGCATTGACCGCGATGAGCTGCTCACCATCATCCAGGTGCAGAGGGCCCGGCCAGGGCTGGGGGCAGCGGTCTGGGGTGGGACCCGGAACTGAGAGCCCAGGGTTAGAACAACAATCTCAGGATTGAGACAGGATGTGGGACTGAGGATCCTGGTGGCAGCTGTAGGCCTCACCAGCTGCGTGACCCAGGCCACGTTCCTTCCCTTCCTTGGCCTCAGTTTCCTCATCAATACCAAAAGACGATAGAAGTTTGACTCTTGAGTCCCAGCTCTGCCTAGGCCCCCGGGTACCCTGCACTCTACTCCTCACTGCTCTTGGGAGCCGGACAAGCTCTGACCGTCCCCAATCCTACCCCTGAGATAGGATAAGGATGGGCCCCTCTCACTTCTGCCCCTTCTTCCCTCCCAGGCCATTCGCGCCATTAACCCCTGCAGCGATACCACCATGACTGCAGAGGAGTTCACCGATACAGTGTTCTCCAAGATTGACGTCAACGGGGATGGTGAGGGGGCCGAGGAGGGGCTCCCCAGCGGAGGGGTCACCATGGATGTGGGGTCACCAGGGGTGGAAGGTCACTAAAGGAGAGGGTGAGGAAGGGAGGAGAGGCCCAAAGGCCCCCGTGCTGGTCACTTCCTCCACCTGCCTCTGCCCCAGCCACAAAGTTGGCTTTTAGGGGCCCCTGGACCAGAATCTGGGCTCTGGGTTCCTCTGCTTGCTGCACCCGCAGCAGGGGCTCTGACTTCTCCTCACGTGGGCTCTGTCCCTGCCCCTGGCAAGAACCCGGTTCTGTGCTCTGGACTGCAGAAATGAACACCCTCCTCCCCCTGATTCCCTTTCTCTCTACCCCAGGGGAACTCTCCCTGGAAGAGTTTATAGAGGGCGTCCAGAAGGACCAGATGCTCCTGGACACACTGACACGAAGCCTGGACCTTACCCGCATCGTGCGCAGGCTCCAGAATGGCGAGCAAGACGAGGAGGGGGCTGACGAGGCCGCTGAGGCAGCCGGCTGAGTGCACCGCCCGGCTGCTTCTGCACTAGCGGGTGGGGTGGTATGGTGGTGCCTGTTGGTGGTGTTCTTGTCTTAACCCTAGATAGAATCTAATGAACTCAGAGGCTTAGCTCGCCTCTTTAGGGTCCATGGTGGCAGCAGAGAGGCAGAAGTGGGAGTCCAGAGCCAGGAACAGTGAAGGATGGTTCCTGGCCCCTCTGAGTGACAGCTGGTGGCAGCACTCCTTGCTGGGGGGCACTGTTCAACATCCCTCTGCCGTCGGGTGACCCCCTAGCCCTTCTGACTCCTCTCCCAGCTTTTCCCAGCTTTCCCCACTGAGCTTCTCCAGTCCATGCTCTTCTGGACGTGGACTCTCTGAGGCAGAACTGAGCTTTTCCAGGCCTCTTATGGAATCCTGCAGATCCAGTGGCTGCAGCTTCAATCCCAGTGCTGCAATCACACATCCATTCTGCCCTGGGGGACCCTGGAGCCTACTTGTGCGCTTTGCATTTCATTGATTGACGCCTCCCTTCAACAAGCATTTACTGAGCGCCTACTATGTACTAATGCTAGATGTTAGATGTACAAAGAAGACAGTTTTCATCCTCTAGGAACTCATAGGCTAATGGTGAGACACACAGACAAACATCATTATAATAAAATATGCTAAGAGAAGTTATGAATAGATTTCTGTAGAAGACACCTACAGGCGTCTGACTCAGAGGCAGCATCACAGAGGTGACCTTTGACTTTGAACAGGAAAGAGTGCTTCGGGGCCGAATGTAGAGAAGAAGGTGATGCATGTGGGGTGGTTGGAGATGCATTCTCTGTGATGTATGTGTCACATGTGGGGGGCTGTGTGATGTGGACAGGAGCATTCTTAGGTGCAAATTTGGGGTATCCCTTGGGATTTAAATTTTACCAAATTTAAAACAGTAAGAATCACCATATCTGTTTTTAGGGAGTACCCCAGTAAGGGAAAACAAACAAACATAGCTTCTTCAAGAGATTTATAATCCTACTAGCAAGATAAGGATGGGATGTTTTGCCAGGTGTGGTGGTAAATGCCTGTGATCCCCAATACTCAGGAGGCTAAGGTGGGAGGATCCCTTGAGCCGAGGGGTTCAAGACAAGCCCAGGCAACATAGTGAGACCCCTCTTCAAAAAGATAAAAGGGAGCCGGGAGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTATGGTAGTGTGCTCCTGTAATCCCAGCTACCTGGGAGGCTGAGGCAGAAGAATTGCATGAACCAGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGACAACAGAGTAAGACTCTGTCTAAAAAAAATAAACAAATAAATAAAAAGAAAAAAAGGGTGGAATATTTAGATGACAGTGTAGATCTGAATCTGAATGCATGTGCATGCATTCACTCTGGGAAGCTTTAGTGTCGGCCAAAAAGTGAAAGAGGGTGGGTGGTTCTGCAAAAAATCCTCATTTCTCAAGAAGAAATCCATACTTTTTCAGAAGAGCCTGCGCAAGTCCCTTATACTTCCCCTCCTTGGTGACATGTGGTGTTCCATGGCTCCCCACAGATCTGCGACTCATCGCTCGTTGCAAATAATCTATCCCTGGTCTAACCTAAATCCCTCTTGCTGCAGTGACACCTGATACCAGTTGGGAAGTGGAACAGTCTGTTACAGGTGGGCCCCATCCGCATCTTTGCACATCTCAGCTTTAAGAATACCCAACTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTG
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TGTCATTCACTAGCTGTTTGGCCTAATCTCTCTCAACTTTGGCTTTGTCATTCAAACTAGAGACAAAAATATTCACCTCTTGGGGGTGGCTTGAGATTAAATGAGTAAAATGAATAAAGCACTCAGCCTAGGAAGTCCATGGAGAGCACTAAGAAAAGTTAGTATTGCTATATATTTTCATTGAATCTAATGCATACCACAATCTTGAAAAGTGCACACTGTCATTCCATTTTATACCTGGGAATACGGAGACTCAAGGTCATGTGACTTATCCAAGGTGATTTAGATCTTTCTGGCACAAAAATCCACACCTTTTCCATTGCCCCTTTTTAGACATTAAAAAAAAAACCTGCAAAAGCAATCCAGCTCATTGTAGAAATTTCCAGCAATACAGAAAGATAAAAAATGAAGAGCAAAAGTATCCTCACCTGGTGTCCCCTCCCCCAGAGGAAACCTCTTTAGCAGTTTTCTTGCTTATTCAAGCTGTGCTGTCTAGGGGCCTCTCTGGGCTCTGTGCTGATGACAGTCCTGGGAGGTGGGTTGGGACTGAATGAGCCCACTGTGGGGTTCAGAGTGTTTAAGGCCTTCCGGGGGCCTCAGCCCCTCAGGCAGCAGGGTGAGAAACTCCCAAAAGCTCACCCAAACCACGCTCCCATCCCTGGGGGTGCAGTTCTTCCTCCTCCCACCTACGCACATGTCTCCCATTTCCCCTAACTGGAAAGGCTCATGCTTGACAATCACAGGGAAGCAGGCAGCGCTCGCTAAAACCCAGATGCCTGTGAACAGACAGCGCCAGCCATTCACACCCCAGTGGATGCTGGCTTATTAGATTTGATTGGCAGCCTCTGGAGTAGGCAGGGTGGGCTATACAGGGCGTCTAGGAAGACAGATAGGTCACGGCGGAGACAGGGCTGGCCCCCTCGCTGCATCTCCGAGGGTCCGGGTCTCCCCTCAGCGTCTCTTGGGGCTTGCCGAGATGGGCGGAGCCTTGGGTTATGATGGGCGGGGCCTGAGGCTGGAGTGAGCGGGGCCCGGATGGGCTCACGGCGGCCGCGCCCCTCGCCCAGGACGGCTACATTGATTTCATGGAGTACGTGGCAGCGCTCAGCTTGGTCCTCAAGGGGAAGGTGGAACAGAAGCTCCGCTGGTACTTCAAGCTCTATGATGTAGATGGCAACGGCTGCATTGACCGCGATGAGCTGCTCACCATCATCCAGGTGCAGAGGGCCCGGCCAGGGCTGGGGGCAGCGGTCTGGGGTGGGACCCGGAACTGAGAGCCCAGGGTTAGAACAACAATCTCAGGATTGAGACAGGATGTGGGACTGAGGATCCTGGTGGCAGCTGTAGGCCTCACCAGCTGCGTGACCCAGGCCACGTTCCTTCCCTTCCTTGGCCTCAGTTTCCTCATCAATACCAAAAGACGATAGAAGTTTGACTCTTGAGTCCCAGCTCTGCCTAGGCCCCCGGGTACCCTGCACTCTACTCCTCACTGCTCTTGGGAGCCGGACAAGCTCTGACCGTCCCCAATCCTACCCCTGAGATAGGATAAGGATGGGCCCCTCTCACTTCTGCCCCTTCTTCCCTCCCAGGCCATTCGCGCCATTAACCCCTGCAGCGATACCACCATGACTGCAGAGGAGTTCACCGATACAGTGTTCTCCAAGATTGACGTCAACGGGGATGGTGAGGGGGCCGAGGAGGGGCTCCCCAGCGGAGGGGTCACCATGGATGTGGGGTCACCAGGGGTGGAAGGTCACTAAAGGAGAGGGTGAGGAAGGGAGGAGAGGCCCAAAGGCCCCCGTGCTGGTCACTTCCTCCACCTGCCTCTGCCCCAGCCACAAAGTTGGCTTTTAGGGGCCCCTGGACCAGAATCTGGGCTCTGGGTTCCTCTGCTTGCTGCACCCGCAGCAGGGGCTCTGACTTCTCCTCACGTGGGCTCTGTCCCTGCCCCTGGCAAGAACCCGGTTCTGTGCTCTGGACTGCAGAAATGAACACCCTCCTCCCCCTGATTCCCTTTCTCTCTACCCCAGGGGAACTCTCCCTGGAAGGGTTTATAGAGGGCGTCCAGAAGGACCAGATGCTCCTGGACACACTGACACGAAGCCTGGACCTTACCCGCATCGTGCGCAGGCTCCAGAATGGCGAGCAAGACGAGGAGGGGGCTGACGAGGCCGCTGAGGCAGCCGGCTGAGTGCACCGCCCGGCTGCTTCTGCACTAGCGGGTGGGGTGGTATGGTGGTGCCTGTTGGTGGTGTTCTTGTCTTAACCCTAGATAGAATCTAATGAACTCAGAGGCTTAGCTCGCCTCTTTAGGGTCCATGGTGGCAGCAGAGAGGCAGAAGTGGGAGTCCAGAGCCAGGAACAGTGAAGGATGGTTCCTGGCCCCTCTGAGTGACAGCTGGTGGCAGCACTCCTTGCTGGGGGGCACTGTTCAACATCCCTCTGCCGTCGGGTGACCCCCTAGCCCTTCTGACTCCTCTCCCAGCTTTTCCCAGCTTTCCCCACTGAGCTTCTCCAGTCCATGCTCTTCTGGACGTGGACTCTCTGAGGCAGAACTGAGCTTTTCCAGGCCTCTTATGGAATCCTGCAGATCCAGTGGCTGCAGCTTCAATCCCAGTGCTGCAATCACACATCCATTCTGCCCTGGGGGACCCTGGAGCCTACTTGTGCGCTTTGCATTTCATTGATTGACGCCTCCCTTCAACAAGCATTTACTGAGCGCCTACTATGTACTAATGCTAGATGTTAGATGTACAAAGAAGACAGTTTTCATCCTCTAGGAACTCATAGGCTAATGGTGAGACACACAGACAAACATCATTATAATAAAATATGCTAAGAGAAGTTATGAATAGATTTCTGTAGAAGACACCTACAGGCGTCTGACTCAGAGGCAGCATCACAGAGGTGACCTTTGACTTTGAACAGGAAAGAGTGCTTCGGGGCCGAATGTAGAGAAGAAGGTGATGCATGTGGGGTGGTTGGAGATGCATTCTCTGTGATGTATGTGTCACATGTGGGGGGCTGTGTGATGTGGACAGGAGCATTCTTAGGTGCAAATTTGGGGTATCCCTTGGGATTTAAATTTTACCAAATTTAAAACAGTAAGAATCACCATATCTGTTTTTAGGGAGTACCCCAGTAAGGGAAAACAAACAAACATAGCTTCTTCAAGAGATTTATAATCCTACTAGCAAGATAAGGATGGGATGTTTTGCCAGGTGTGGTGGTAAATGCCTGTGATCCCCAATACTCAGGAGGCTAAGGTGGGAGGATCCCTTGAGCCGAGGGGTTCAAGACAAGCCCAGGCAACATAGTGAGACCCCTCTTCAAAAAGATAAAAGGGAGCCGGGAGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTATGGTAGTGTGCTCCTGTAATCCCAGCTACCTGGGAGGCTGAGGCAGAAGAATTGCATGAACCAGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGACAACAGAGTAAGACTCTGTCTAAAAAAAATAAACAAATAAATAAAAAGAAAAAAAGGGTGGAATATTTAGATGACAGTGTAGATCTGAATCTGAATGCATGTGCATGCATTCACTCTGGGAAGCTTTAGTGTCGGCCAAAAAGTGAAAGAGGGTGGGTGGTTCTGCAAAAAATCCTCATTTCTCAAGAAGAAATCCATACTTTTTCAGAAGAGCCTGCGCAAGTCCCTTATACTTCCCCTCCTTGGTGACATGTGGTGTTCCATGGCTCCCCACAGATCTGCGACTCATCGCTCGTTGCAAATAATCTATCCCTGGTCTAACCTAAATCCCTCTTGCTGCAGTGACACCTGATACCAGTTGGGAAGTGGAACAGTCTGTTACAGGTGGGCCCCATCCGCATCTTTGCACATCTCAGCTTTAAGAATACCCAACTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTG
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Task1_train_10278
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Gene PRPH2 (peripherin 2) on Chromosome 6 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; PRPH2-related disorder
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TGATAGCATTAGGACAGTGACTCATTTAAAGGAATCTTTGGGAATCTCCTCAATGGAAAAAGCTTCCTCACCAAATCTTCCTGGCTTTGTACATTGGGATTTTGAAGTTTGGATTTTCTGCTCTCAAGGTAGCTCAAAGCAGCTACCCTGAGTCACCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAA
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TGATAGCATTAGGACAGTGACTCATTTAAAGGAATCTTTGGGAATCTCCTCAATGGAAAAAGCTTCCTCACCAAATCTTCCTGGCTTTGTACATTGGGATTTTGAAGTTTGGATTTTCTGCTCTCAAGGTAGCTCAAAGCAGCTACCCTGAGTCACCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGATGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAA
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Task1_train_10279
|
This mutation occurs in PRPH2 (peripherin 2) on Chromosome 6. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; Retinal dystrophy
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TGATAGCATTAGGACAGTGACTCATTTAAAGGAATCTTTGGGAATCTCCTCAATGGAAAAAGCTTCCTCACCAAATCTTCCTGGCTTTGTACATTGGGATTTTGAAGTTTGGATTTTCTGCTCTCAAGGTAGCTCAAAGCAGCTACCCTGAGTCACCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAA
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TGATAGCATTAGGACAGTGACTCATTTAAAGGAATCTTTGGGAATCTCCTCAATGGAAAAAGCTTCCTCACCAAATCTTCCTGGCTTTGTACATTGGGATTTTGAAGTTTGGATTTTCTGCTCTCAAGGTAGCTCAAAGCAGCTACCCTGAGTCACCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGATGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAA
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Task1_train_10280
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This mutation occurs in PRPH2 (peripherin 2) on Chromosome 6. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; Retinal dystrophy
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CCAAATCTTCCTGGCTTTGTACATTGGGATTTTGAAGTTTGGATTTTCTGCTCTCAAGGTAGCTCAAAGCAGCTACCCTGAGTCACCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAG
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CCAAATCTTCCTGGCTTTGTACATTGGGATTTTGAAGTTTGGATTTTCTGCTCTCAAGGTAGCTCAAAGCAGCTACCCTGAGTCACCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGTTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAG
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Task1_train_10281
|
Consider a variant on Chromosome 6 in gene PRPH2 (peripherin 2). Determine its clinical classification and disease relevance.
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Pathogenic; Retinal dystrophy
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AAATCTTCCTGGCTTTGTACATTGGGATTTTGAAGTTTGGATTTTCTGCTCTCAAGGTAGCTCAAAGCAGCTACCCTGAGTCACCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGC
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AAATCTTCCTGGCTTTGTACATTGGGATTTTGAAGTTTGGATTTTCTGCTCTCAAGGTAGCTCAAAGCAGCTACCCTGAGTCACCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTGGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGC
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Task1_train_10282
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The gene PRPH2 (peripherin 2) on Chromosome 6 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Retinal dystrophy
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GCAGCTACCCTGAGTCACCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTG
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GCAGCTACCCTGAGTCACCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCGGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTG
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Task1_train_10283
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The following genetic variant occurs in PRPH2 (peripherin 2) on Chromosome 6. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; PRPH2-related disorder
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GCAGCTACCCTGAGTCACCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTG
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GCAGCTACCCTGAGTCACCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCGGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTG
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Task1_train_10284
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This sequence variant lies in PRPH2 (peripherin 2) on Chromosome 6. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; PRPH2-related disorder
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AGCTACCCTGAGTCACCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTC
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AGCTACCCTGAGTCACCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGAGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTC
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Task1_train_10285
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The gene PRPH2 (peripherin 2), on Chromosome 6, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Retinal dystrophy
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AGCTACCCTGAGTCACCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTC
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AGCTACCCTGAGTCACCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGAGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTC
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Task1_train_10286
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An alteration has been detected in PRPH2 (peripherin 2) on Chromosome 6. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; PRPH2-related disorder
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CCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAA
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CCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAAGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAA
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Task1_train_10287
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Chromosome 6 houses a mutation in gene PRPH2 (peripherin 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Retinitis pigmentosa
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CCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAA
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CCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAAGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAA
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Task1_train_10288
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This is a variant in PRPH2 (peripherin 2), located on Chromosome 6. Is this mutation a likely cause of disease or not?
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Pathogenic; Patterned dystrophy of the retinal pigment epithelium
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CCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAA
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CCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAAGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAA
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Task1_train_10289
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The gene PRPH2 (peripherin 2), on Chromosome 6, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Retinal dystrophy
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CCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAA
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CCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAAGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAA
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Task1_train_10290
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Mutation context: Chromosome 6, Gene PRPH2 (peripherin 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Retinal dystrophy
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CCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAA
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CCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTACGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAA
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Task1_train_10291
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Mutation context: Chromosome 6, Gene PRPH2 (peripherin 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; PRPH2-related disorder
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CCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAA
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CCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTACGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAA
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Task1_train_10292
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A mutation on Chromosome 6 affecting PRPH2 (peripherin 2) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; PRPH2-related disorder
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GCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAAAAAA
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GCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATAGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAAAAAA
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Task1_train_10293
|
Given this variant in gene PRPH2 (peripherin 2) on Chromosome 6, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; PRPH2-related disorder
|
GCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAAAAAA
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GCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATGGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAAAAAA
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Task1_train_10294
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This alteration occurs within gene PRPH2 (peripherin 2) located on Chromosome 6. Is it associated with a disease or is it a benign variant?
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Pathogenic; not provided
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CACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAAAAAAGA
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CACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGGAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAAAAAAGA
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Task1_train_10295
|
Gene PRPH2 (peripherin 2) on Chromosome 6 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; PRPH2-related disorder
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CCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAAAAAAGAAA
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CCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCACCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAAAAAAGAAA
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Task1_train_10296
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This gene mutation involves PRPH2 (peripherin 2) on Chromosome 6. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Patterned dystrophy of the retinal pigment epithelium
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CCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAAAAAAGAAA
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CCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCACCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAAAAAAGAAA
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Task1_train_10297
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With a mutation on Chromosome 6 in gene PRPH2 (peripherin 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; PRPH2-related disorder
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CTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAAAAAAGAAAG
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CTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGGAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAAAAAAGAAAG
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Task1_train_10298
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A mutation on Chromosome 6 affecting PRPH2 (peripherin 2) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Stargardt disease
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CTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAAAAAAGAAAG
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CTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGGAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAAAAAAGAAAG
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Task1_train_10299
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A mutation found in PRPH2 (peripherin 2) on Chromosome 6 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; PRPH2-related disorder
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TCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCAGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAAAAAAGAAAGA
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TCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAAGAAAGAAATATCTCTTGGCCAGATGCAGTGGCACACACCTGTAATCCCAGCACTTTGGGGGACCAAGGTAAGAGGATTGCTTGAAGCCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCCCATTTCTACAGAAGACTCTACGGAGTATGACTCAGGGCACCTGTTTTCAGCTACTCTGCATGTGCCTATAGTCCTAGCTACTCAGAAGGCTGAGGTGGGAAGAGCCCTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCTACGATCATGCCCCTGCACTCCAGCCTGGGTGACAGGTGAATTTTTCTTCTTGTCTCTAAAAAAAATAATAATAAACAATTTAAAATAATAAAAATAAAAAATGAATATCTCTTTAACCAAAGAGCGAATTCAGCACACTCACCGAGGATTTGCTTACATTGCAAGCCCTATAGCTACAGAGAAACTGAGCGTTGCAGATAAGATGAACCCACACATAACTAGACTAACAGGTAAATGAGGACCAGCATCCCAAGAAGCACAAATCCAAACAGTACCCATTTCCTGAACACCTGCACATGCTGTTCATGTTGCCTCCCAATAGTCCCCAAAGCTAAGTGCTGTCACCCCATATAACAGAGAGGTTAAATGACTAAGACCTCGGTACCAAAAAGTGGGGACACAGGATGAACCTCCAAAACATGCTAACTAAAAGAAGCCAAACGTAATATGGGTCCATTTATATGAAATGTCCAAAATACATAAATCCAGAGAACAGTTGCCAGGGGCTGGAGGGCAGGTTGGGAGGTGGTGACTGCTTCATGGGTGTGAGATTTTCTTGGGGGCTGATGGAAGTCTTTTGGAACTAGGTAGAGGTGCTTGCACAACATTGTAAATCAACTAGATGACACCAAATTGTTTACCTTTTATAAATCTCACCTCAATTAAAAAAACAATTGTCGGTCGGGTGCAGTGCTCACACCTGTAAACCCAGACTTCGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATGCAGTGAAAACCTGTCTCTACTACAAATATAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTATCGGGAGGCTGAGGCAGAAGGATCCCTTGAACCCAGGAGAGGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACACAGAGAGACTCAGCCTCAAAATAAAAAAAAAATAAAAAAAATAAATTTAAGTGGTGGGAAAGAAACCAAAAAAGAAATAAATGAATAAATAAATAAATAAATAAATACAAAAGGTGGAGGCCCTGGGTGGGGTTCAAGCCCAGACTGATCTGACCCACAGCTCCACTGAAGGCTGTTTCCAAAGAGGGAGGCATGCTCTCCAAGCCTGGCTCCGCCCCCATTAGACCCAAATGGGACCGGAGGCTCTCCTTACCCTCTACCCCCAGCTGGCCCAGGGCCTACCTCGAAGAGCCAAATGAGGAGCGTGACGACACCCATGGAGTTCATGAGGCTGCTGTAGTAGCTCAGCAGGGCAGCCCTGCAGCCACGCACCCACAGGTTGAGCTCCTCCGTCTGGTGGTCGTAACTGTAGTGTGCTGAGTTGTTGGTGATCTGATACTGGATGCAGGGCCGTGGCGAGCTAGGATTGCAGCGGCTGAAAGGGACGCCGTCCACCAGGTACCGCCCATCCACGTTGCTCTTGATTCGACTTAAAGGGAAACAGACAGCTGGAGATGGGCTTCCCGGGCTTCTCAACAGGGGCCACTTCCTCCCAACCCCTGCCTCTGGAAACCTAGAATAGTCATTCACTCGCACACTTGGTATATATTTGCTGTGCGCCCGCTACGTGCCAGTCACTGTTCTAGGCGCTGAAGACAAAAAAATGAATAAATGCCCCTGCCTTCCTCGACCTTGAGGTAGACGGTAATCCAAGACCCAAGTCAATAGGGAGTATAGAAATTCACCCAACCACTCTGTGCTGCCAGGCGCTTTCTTGGGGCCATGCCTGGTGCATAGGTGGGTAGGAGGAGCAGCAGGATGGGAGCTGTTGATGGACAAGCATCTGGCTGCCACTGGTGATGCCCACAGCTCCCTCACCAACCTCATCTCCCCCTTACAGGTCACTGGTGGCCAAGGCCCTTTCCAGCCAGGTGTTTCCAGAAGGCCTGCTCAGTCCCAGGGCCTGTGCAGAGGCAGGGGATGGAGACCCGAGGCAGGCACAGTCCTTGCCCTCGGAGGACTCCACCCCCAGCCAGGTGGGAGCTCCTGACTCACCTAAGGGACACAGCTGCAAGCAGGTTCTCCAGGCTGATGGGCGGGGCTCCCAGCATATCTTCTGCACTTCTATATTTTTGTGTGTATTTGTTTAGCGCTTACCATACATTCACACAGGTTCAGAATTCAAAAGGGATCTTTACAGTGAAAAGTCTCCCCTTCCCCTCAGGCAGGCTGGGTATGTTCTACCTGGCCTGGGGGTGATTACCCAGGTGTTTTATGGTCAAAACTCCCTGAGCTGCACACTTAAGATCCGTGCATTTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGTAAGGCCGAGGCGGGAGCCCAGGAGTTCAAGGCAGCAGTGAGCTATGATCACACCACTGCTCTCAGCCTGGGCAACAGAACAAGACTTTCTCTAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTGTGCACTTGACTGGGTGCTTGTCATCTAAATAAAAAGTTGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACGAAGATGGGCAGATCTTCATCAAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCCGGGAGGAAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCCGTACGATACAGTGAGACCCCGTCTCAAAAAAAAAAAAAAGAAAAAGTTGCATGTAGGCCAAGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGACGACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTCATCTCTACAATTAATAAAAATACAGGCCGGGCACGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCTGGGCGTTGTGGCGGGCTCTTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCATTGTACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAAATAAAAATAAAAAATAAAAAAATAAAAATAAAAATACAAAAAAATTAGCCAGGCGTTGTGGTGCATGCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCACGAGAATCACTTGAGCCCGAGACGCAGAGGTTGCAGTGAGCCGAGATCACGCCAGTGAGACTCTGTCTCAAAAAACAAAAAAAAAAGAAAGA
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Subsets and Splits
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