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_5800
|
Gene AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign?
|
Pathogenic; not specified
|
CCGTTGCACCTACATTTATGTGTCTGGAGAAGTGGAAACCGATGCCCAAGAAATCATCAAACAAGCCAAATGGCTACACACACTTTCCCAAAGCAACCAAGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTG
|
CCGTTGCACCTACATTTATGTGTCTGGAGAAGTGGAAACCGATGCCCAAGAAATCATCAAACAAGCCAAATGGCTACACACACTTTCCCAAAGCAACCAAGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGCTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTG
|
Task1_train_5801
|
Assess the clinical impact of this variant on gene AGXT (alanine--glyoxylate aminotransferase), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable.
|
Pathogenic; Primary hyperoxaluria, type I
|
CACCTACATTTATGTGTCTGGAGAAGTGGAAACCGATGCCCAAGAAATCATCAAACAAGCCAAATGGCTACACACACTTTCCCAAAGCAACCAAGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAG
|
CACCTACATTTATGTGTCTGGAGAAGTGGAAACCGATGCCCAAGAAATCATCAAACAAGCCAAATGGCTACACACACTTTCCCAAAGCAACCAAGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCTCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAG
|
Task1_train_5802
|
Consider this mutation in AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2. Is this a benign change or a disease-causing variant?
|
Pathogenic; Primary hyperoxaluria, type I
|
ATCATCAAACAAGCCAAATGGCTACACACACTTTCCCAAAGCAACCAAGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGC
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ATCATCAAACAAGCCAAATGGCTACACACACTTTCCCAAAGCAACCAAGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCGGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGC
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Task1_train_5803
|
Gene AGXT (alanine--glyoxylate aminotransferase), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; Primary hyperoxaluria, type I
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ATCAAACAAGCCAAATGGCTACACACACTTTCCCAAAGCAACCAAGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGA
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ATCAAACAAGCCAAATGGCTACACACACTTTCCCAAAGCAACCAAGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCCGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGA
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Task1_train_5804
|
Given this context: Chromosome 2, gene AGXT (alanine--glyoxylate aminotransferase) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Primary hyperoxaluria, type I
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AGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATAC
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AGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCAGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATAC
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Task1_train_5805
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A sequence alteration has been identified in AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2. Is it disease-inducing or harmless?
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Pathogenic; Primary hyperoxaluria
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AGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATAC
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AGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCAGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATAC
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Task1_train_5806
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A variant was discovered in gene AGXT (alanine--glyoxylate aminotransferase), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Primary hyperoxaluria, type I
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AGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATAC
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AGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCCGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATAC
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Task1_train_5807
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This is a variant in AGXT (alanine--glyoxylate aminotransferase), located on Chromosome 2. Is this mutation a likely cause of disease or not?
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Pathogenic; not provided
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GACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACC
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GACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGAGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACC
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Task1_train_5808
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Consider this mutation in AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2. Is this a benign change or a disease-causing variant?
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Pathogenic; Primary hyperoxaluria, type I
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TGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCA
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TGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGAGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCA
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Task1_train_5809
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The gene AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Primary hyperoxaluria, type I
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TACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAA
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TACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCAGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAA
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Task1_train_5810
|
The gene AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Primary hyperoxaluria, type I
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AACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCA
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AACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACAAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCA
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Task1_train_5811
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The gene AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Primary hyperoxaluria, type I
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ATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGA
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ATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAACGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGA
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Task1_train_5812
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A change on Chromosome 2 affects gene AGXT (alanine--glyoxylate aminotransferase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Primary hyperoxaluria
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ATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGA
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ATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAACGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGA
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Task1_train_5813
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Consider a variant on Chromosome 2 in gene AGXT (alanine--glyoxylate aminotransferase). Determine its clinical classification and disease relevance.
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Pathogenic; Primary hyperoxaluria, type I
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CCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGC
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CCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGATCCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGC
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Task1_train_5814
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This variant lies on Chromosome 2 and affects the gene AGXT (alanine--glyoxylate aminotransferase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Primary hyperoxaluria, type I
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TGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGT
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TGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGCGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGT
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Task1_train_5815
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This mutation is located in gene AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Primary hyperoxaluria
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GCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTC
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GCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACGCTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTC
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Task1_train_5816
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Consider this mutation in AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2. Is this a benign change or a disease-causing variant?
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Pathogenic; Primary hyperoxaluria, type I
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TGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCC
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TGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGACCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCC
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Task1_train_5817
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This mutation occurs in AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; not provided
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ACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGT
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ACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGAAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGT
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Task1_train_5818
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A variant affecting Chromosome 2, within the gene AGXT (alanine--glyoxylate aminotransferase), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Primary hyperoxaluria, type I
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AAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTG
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AAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGTGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTG
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Task1_train_5819
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This mutation is located in gene AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Primary hyperoxaluria, type I
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GAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCT
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GAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGTGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCT
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Task1_train_5820
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The following genetic variant occurs in AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Primary hyperoxaluria, type I
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CAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCG
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CAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCCCCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCG
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Task1_train_5821
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Here is a mutation in AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Primary hyperoxaluria, type I
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CCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGC
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CCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGATGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGC
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Task1_train_5822
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Located on Chromosome 2, this mutation impacts AGXT (alanine--glyoxylate aminotransferase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Primary hyperoxaluria, type I
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TGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCC
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TGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCCGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCC
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Task1_train_5823
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A mutation in AGXT (alanine--glyoxylate aminotransferase), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Primary hyperoxaluria, type I
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GCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCG
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GCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGATCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCG
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Task1_train_5824
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This alteration in AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Primary hyperoxaluria
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GCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCG
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GCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGATCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCG
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Task1_train_5825
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The gene AGXT (alanine--glyoxylate aminotransferase), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Primary hyperoxaluria, type I
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GCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCC
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GCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCGTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCC
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Task1_train_5826
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A variant has been detected on Chromosome 2 in AGXT (alanine--glyoxylate aminotransferase). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Primary hyperoxaluria, type I
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GGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCT
|
GGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACAGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCT
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Task1_train_5827
|
This sequence change occurs on Chromosome 2, altering AGXT (alanine--glyoxylate aminotransferase). What is the medical significance of this variant — is it benign or linked to a disease?
|
Pathogenic; Hyperoxaluria
|
GGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCT
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GGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACAGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCT
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Task1_train_5828
|
This alteration in AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; Primary hyperoxaluria
|
GGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCT
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GGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACAGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCT
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Task1_train_5829
|
Given this variant in gene AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
|
Pathogenic; Primary hyperoxaluria, type I
|
GGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCT
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GGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACCGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCT
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Task1_train_5830
|
A variant was discovered in gene AGXT (alanine--glyoxylate aminotransferase), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Primary hyperoxaluria, type I
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CATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAG
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CATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCAGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAG
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Task1_train_5831
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A mutation on Chromosome 2 affecting AGXT (alanine--glyoxylate aminotransferase) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Primary hyperoxaluria
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CATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAG
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CATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCAGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAG
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Task1_train_5832
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A variant was discovered in gene AGXT (alanine--glyoxylate aminotransferase), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Primary hyperoxaluria, type I
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CATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAG
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CATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCCGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAG
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Task1_train_5833
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Given this variant in gene AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Primary hyperoxaluria, type I
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GCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTC
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GCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCCTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTC
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Task1_train_5834
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Consider a variant on Chromosome 2 in gene AGXT (alanine--glyoxylate aminotransferase). Determine its clinical classification and disease relevance.
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Pathogenic; Primary hyperoxaluria, type I
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GATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACC
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GATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTACCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACC
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Task1_train_5835
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Gene AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Primary hyperoxaluria, type I
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AGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTG
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AGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACCTGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTG
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Task1_train_5836
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Consider a variant on Chromosome 2 in gene AGXT (alanine--glyoxylate aminotransferase). Determine its clinical classification and disease relevance.
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Pathogenic; Primary hyperoxaluria, type I
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GGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTT
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GGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAAGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTT
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Task1_train_5837
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A variant was discovered in gene AGXT (alanine--glyoxylate aminotransferase), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Primary hyperoxaluria, type I
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GACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAG
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GACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGAAATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAG
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Task1_train_5838
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Here is a genetic alteration in AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Primary hyperoxaluria, type I
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CAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGAC
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CAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACAACCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGAC
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Task1_train_5839
|
A genetic alteration is present in AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Primary hyperoxaluria, type I
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AGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCAC
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AGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACCCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCAC
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Task1_train_5840
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A variant on Chromosome 2 in gene AGXT (alanine--glyoxylate aminotransferase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Primary hyperoxaluria, type I
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GAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACT
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GAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTTGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACT
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Task1_train_5841
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The gene AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Primary hyperoxaluria
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GAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACT
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GAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTTGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACT
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Task1_train_5842
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The following genetic variant occurs in AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Primary hyperoxaluria, type I
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AGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGA
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AGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGCCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGA
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Task1_train_5843
|
A mutation on Chromosome 2 affecting AGXT (alanine--glyoxylate aminotransferase) has been found. Is it harmful or harmless? What disease, if any, does it cause?
|
Pathogenic; Primary hyperoxaluria, type I
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GACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGG
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GACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCCCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGG
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Task1_train_5844
|
A mutation found in AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; Primary hyperoxaluria, type I
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AGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCC
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AGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGCACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCC
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Task1_train_5845
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Assess the clinical impact of this variant on gene AGXT (alanine--glyoxylate aminotransferase), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Primary hyperoxaluria, type I
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AGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGAT
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AGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACACCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGAT
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Task1_train_5846
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The following genetic variant occurs in AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Primary hyperoxaluria
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AGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGAT
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AGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACACCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGAT
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Task1_train_5847
|
This sequence variant lies in AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2. Is it clinically significant, and what condition might it cause if any?
|
Pathogenic; Primary hyperoxaluria, type I
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AGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACA
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AGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCCGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACA
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Task1_train_5848
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An alteration has been detected in AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Primary hyperoxaluria, type I
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AGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACAGCCCTTCCCCTCCTTGCCCAGTCCCCTCCCCCTGCAAGGCACTCTCCACTCTTCTCCCCCAGGGGCCACAGGCAGACCTCCCCTCTGTCTCTCTGAACCCTCCTCTGTCTCTCCCAGACCCAGATGTTTCCTTCTGCCCTGGGGTAGTCCCAGGCCCTGCCCCAGGCAAAGTCAAACTGGGGGCTCCAGGGGCTCCCCTGCACCAAGGCCTGCAGAGTCAGGTTCTTCCTCCCGCACCACAGAGGGCGGGGCTTCCTGCCCACCCCACCCATGTCACTGCCCACCAGCGCCATCTCCCACACAGGGCCTGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCTGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGTAAGGAGGCCCCTGGCATTGGGCAGCCCTGCACCCATGGGGAAGGATGAGGGGCTCTTGCCCAGCCCCCTCAAGAGGGACACTGGCTCCTGAGAAGGAGGGGGCGGCTGCCCGGTGGTGTGGCCTCGGTGCCAGGGATTAGTCTCGGCAGGAGCCACGAAGTCACAGCTCCCGGCCTCTGATGCGGGATCTCAGGACGGCCTGTGATCTCCCAGTGGGAAGGTGCCCATCCACCGCCTCCTAAGGGGTGGGGTCCCTGCTCTCTCCCGGCCCTTTCTCCCCCGGCTCCTCTGGAACCTGAAGCTGGGGCAGATGGTGCAGGCCAAGAGCTGTCACAAAGGCCCGTACAGGGCCTC
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AGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCAACACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACAGCCCTTCCCCTCCTTGCCCAGTCCCCTCCCCCTGCAAGGCACTCTCCACTCTTCTCCCCCAGGGGCCACAGGCAGACCTCCCCTCTGTCTCTCTGAACCCTCCTCTGTCTCTCCCAGACCCAGATGTTTCCTTCTGCCCTGGGGTAGTCCCAGGCCCTGCCCCAGGCAAAGTCAAACTGGGGGCTCCAGGGGCTCCCCTGCACCAAGGCCTGCAGAGTCAGGTTCTTCCTCCCGCACCACAGAGGGCGGGGCTTCCTGCCCACCCCACCCATGTCACTGCCCACCAGCGCCATCTCCCACACAGGGCCTGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCTGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGTAAGGAGGCCCCTGGCATTGGGCAGCCCTGCACCCATGGGGAAGGATGAGGGGCTCTTGCCCAGCCCCCTCAAGAGGGACACTGGCTCCTGAGAAGGAGGGGGCGGCTGCCCGGTGGTGTGGCCTCGGTGCCAGGGATTAGTCTCGGCAGGAGCCACGAAGTCACAGCTCCCGGCCTCTGATGCGGGATCTCAGGACGGCCTGTGATCTCCCAGTGGGAAGGTGCCCATCCACCGCCTCCTAAGGGGTGGGGTCCCTGCTCTCTCCCGGCCCTTTCTCCCCCGGCTCCTCTGGAACCTGAAGCTGGGGCAGATGGTGCAGGCCAAGAGCTGTCACAAAGGCCCGTACAGGGCCTC
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Task1_train_5849
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Consider a variant on Chromosome 2 in gene AGXT (alanine--glyoxylate aminotransferase). Determine its clinical classification and disease relevance.
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Pathogenic; Cardiac arrhythmia
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CCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACAGCCCTTCCCCTCCTTGCCCAGTCCCCTCCCCCTGCAAGGCACTCTCCACTCTTCTCCCCCAGGGGCCACAGGCAGACCTCCCCTCTGTCTCTCTGAACCCTCCTCTGTCTCTCCCAGACCCAGATGTTTCCTTCTGCCCTGGGGTAGTCCCAGGCCCTGCCCCAGGCAAAGTCAAACTGGGGGCTCCAGGGGCTCCCCTGCACCAAGGCCTGCAGAGTCAGGTTCTTCCTCCCGCACCACAGAGGGCGGGGCTTCCTGCCCACCCCACCCATGTCACTGCCCACCAGCGCCATCTCCCACACAGGGCCTGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCTGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGTAAGGAGGCCCCTGGCATTGGGCAGCCCTGCACCCATGGGGAAGGATGAGGGGCTCTTGCCCAGCCCCCTCAAGAGGGACACTGGCTCCTGAGAAGGAGGGGGCGGCTGCCCGGTGGTGTGGCCTCGGTGCCAGGGATTAGTCTCGGCAGGAGCCACGAAGTCACAGCTCCCGGCCTCTGATGCGGGATCTCAGGACGGCCTGTGATCTCCCAGTGGGAAGGTGCCCATCCACCGCCTCCTAAGGGGTGGGGTCCCTGCTCTCTCCCGGCCCTTTCTCCCCCGGCTCCTCTGGAACCTGAAGCTGGGGCAGATGGTGCAGGCCAAGAGCTGTCACAAAGGCCCGTACAGGGCCTCTCACCCACGCACTGAGCCAGGCCCCTCCTGCAGGCGCTCC
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CCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGCGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACAGCCCTTCCCCTCCTTGCCCAGTCCCCTCCCCCTGCAAGGCACTCTCCACTCTTCTCCCCCAGGGGCCACAGGCAGACCTCCCCTCTGTCTCTCTGAACCCTCCTCTGTCTCTCCCAGACCCAGATGTTTCCTTCTGCCCTGGGGTAGTCCCAGGCCCTGCCCCAGGCAAAGTCAAACTGGGGGCTCCAGGGGCTCCCCTGCACCAAGGCCTGCAGAGTCAGGTTCTTCCTCCCGCACCACAGAGGGCGGGGCTTCCTGCCCACCCCACCCATGTCACTGCCCACCAGCGCCATCTCCCACACAGGGCCTGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCTGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGTAAGGAGGCCCCTGGCATTGGGCAGCCCTGCACCCATGGGGAAGGATGAGGGGCTCTTGCCCAGCCCCCTCAAGAGGGACACTGGCTCCTGAGAAGGAGGGGGCGGCTGCCCGGTGGTGTGGCCTCGGTGCCAGGGATTAGTCTCGGCAGGAGCCACGAAGTCACAGCTCCCGGCCTCTGATGCGGGATCTCAGGACGGCCTGTGATCTCCCAGTGGGAAGGTGCCCATCCACCGCCTCCTAAGGGGTGGGGTCCCTGCTCTCTCCCGGCCCTTTCTCCCCCGGCTCCTCTGGAACCTGAAGCTGGGGCAGATGGTGCAGGCCAAGAGCTGTCACAAAGGCCCGTACAGGGCCTCTCACCCACGCACTGAGCCAGGCCCCTCCTGCAGGCGCTCC
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Task1_train_5850
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Located on Chromosome 2, this mutation impacts AGXT (alanine--glyoxylate aminotransferase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Primary hyperoxaluria
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CCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACAGCCCTTCCCCTCCTTGCCCAGTCCCCTCCCCCTGCAAGGCACTCTCCACTCTTCTCCCCCAGGGGCCACAGGCAGACCTCCCCTCTGTCTCTCTGAACCCTCCTCTGTCTCTCCCAGACCCAGATGTTTCCTTCTGCCCTGGGGTAGTCCCAGGCCCTGCCCCAGGCAAAGTCAAACTGGGGGCTCCAGGGGCTCCCCTGCACCAAGGCCTGCAGAGTCAGGTTCTTCCTCCCGCACCACAGAGGGCGGGGCTTCCTGCCCACCCCACCCATGTCACTGCCCACCAGCGCCATCTCCCACACAGGGCCTGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCTGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGTAAGGAGGCCCCTGGCATTGGGCAGCCCTGCACCCATGGGGAAGGATGAGGGGCTCTTGCCCAGCCCCCTCAAGAGGGACACTGGCTCCTGAGAAGGAGGGGGCGGCTGCCCGGTGGTGTGGCCTCGGTGCCAGGGATTAGTCTCGGCAGGAGCCACGAAGTCACAGCTCCCGGCCTCTGATGCGGGATCTCAGGACGGCCTGTGATCTCCCAGTGGGAAGGTGCCCATCCACCGCCTCCTAAGGGGTGGGGTCCCTGCTCTCTCCCGGCCCTTTCTCCCCCGGCTCCTCTGGAACCTGAAGCTGGGGCAGATGGTGCAGGCCAAGAGCTGTCACAAAGGCCCGTACAGGGCCTCTCACCCACGCACTGAGCCAGGCCCCTCCTGCAGGCGCTCC
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CCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGCGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACAGCCCTTCCCCTCCTTGCCCAGTCCCCTCCCCCTGCAAGGCACTCTCCACTCTTCTCCCCCAGGGGCCACAGGCAGACCTCCCCTCTGTCTCTCTGAACCCTCCTCTGTCTCTCCCAGACCCAGATGTTTCCTTCTGCCCTGGGGTAGTCCCAGGCCCTGCCCCAGGCAAAGTCAAACTGGGGGCTCCAGGGGCTCCCCTGCACCAAGGCCTGCAGAGTCAGGTTCTTCCTCCCGCACCACAGAGGGCGGGGCTTCCTGCCCACCCCACCCATGTCACTGCCCACCAGCGCCATCTCCCACACAGGGCCTGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCTGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGTAAGGAGGCCCCTGGCATTGGGCAGCCCTGCACCCATGGGGAAGGATGAGGGGCTCTTGCCCAGCCCCCTCAAGAGGGACACTGGCTCCTGAGAAGGAGGGGGCGGCTGCCCGGTGGTGTGGCCTCGGTGCCAGGGATTAGTCTCGGCAGGAGCCACGAAGTCACAGCTCCCGGCCTCTGATGCGGGATCTCAGGACGGCCTGTGATCTCCCAGTGGGAAGGTGCCCATCCACCGCCTCCTAAGGGGTGGGGTCCCTGCTCTCTCCCGGCCCTTTCTCCCCCGGCTCCTCTGGAACCTGAAGCTGGGGCAGATGGTGCAGGCCAAGAGCTGTCACAAAGGCCCGTACAGGGCCTCTCACCCACGCACTGAGCCAGGCCCCTCCTGCAGGCGCTCC
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Task1_train_5851
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Here is a variant affecting AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Primary hyperoxaluria, type I
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CGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACAGCCCTTCCCCTCCTTGCCCAGTCCCCTCCCCCTGCAAGGCACTCTCCACTCTTCTCCCCCAGGGGCCACAGGCAGACCTCCCCTCTGTCTCTCTGAACCCTCCTCTGTCTCTCCCAGACCCAGATGTTTCCTTCTGCCCTGGGGTAGTCCCAGGCCCTGCCCCAGGCAAAGTCAAACTGGGGGCTCCAGGGGCTCCCCTGCACCAAGGCCTGCAGAGTCAGGTTCTTCCTCCCGCACCACAGAGGGCGGGGCTTCCTGCCCACCCCACCCATGTCACTGCCCACCAGCGCCATCTCCCACACAGGGCCTGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCTGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGTAAGGAGGCCCCTGGCATTGGGCAGCCCTGCACCCATGGGGAAGGATGAGGGGCTCTTGCCCAGCCCCCTCAAGAGGGACACTGGCTCCTGAGAAGGAGGGGGCGGCTGCCCGGTGGTGTGGCCTCGGTGCCAGGGATTAGTCTCGGCAGGAGCCACGAAGTCACAGCTCCCGGCCTCTGATGCGGGATCTCAGGACGGCCTGTGATCTCCCAGTGGGAAGGTGCCCATCCACCGCCTCCTAAGGGGTGGGGTCCCTGCTCTCTCCCGGCCCTTTCTCCCCCGGCTCCTCTGGAACCTGAAGCTGGGGCAGATGGTGCAGGCCAAGAGCTGTCACAAAGGCCCGTACAGGGCCTCTCACCCACGCACTGAGCCAGGCCCCTCCTGCAGGCGCTCCGGCTTCCCACAGTCACCACTGTG
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CGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACACGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACAGCCCTTCCCCTCCTTGCCCAGTCCCCTCCCCCTGCAAGGCACTCTCCACTCTTCTCCCCCAGGGGCCACAGGCAGACCTCCCCTCTGTCTCTCTGAACCCTCCTCTGTCTCTCCCAGACCCAGATGTTTCCTTCTGCCCTGGGGTAGTCCCAGGCCCTGCCCCAGGCAAAGTCAAACTGGGGGCTCCAGGGGCTCCCCTGCACCAAGGCCTGCAGAGTCAGGTTCTTCCTCCCGCACCACAGAGGGCGGGGCTTCCTGCCCACCCCACCCATGTCACTGCCCACCAGCGCCATCTCCCACACAGGGCCTGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCTGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGTAAGGAGGCCCCTGGCATTGGGCAGCCCTGCACCCATGGGGAAGGATGAGGGGCTCTTGCCCAGCCCCCTCAAGAGGGACACTGGCTCCTGAGAAGGAGGGGGCGGCTGCCCGGTGGTGTGGCCTCGGTGCCAGGGATTAGTCTCGGCAGGAGCCACGAAGTCACAGCTCCCGGCCTCTGATGCGGGATCTCAGGACGGCCTGTGATCTCCCAGTGGGAAGGTGCCCATCCACCGCCTCCTAAGGGGTGGGGTCCCTGCTCTCTCCCGGCCCTTTCTCCCCCGGCTCCTCTGGAACCTGAAGCTGGGGCAGATGGTGCAGGCCAAGAGCTGTCACAAAGGCCCGTACAGGGCCTCTCACCCACGCACTGAGCCAGGCCCCTCCTGCAGGCGCTCCGGCTTCCCACAGTCACCACTGTG
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Task1_train_5852
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This mutation occurs in AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Primary hyperoxaluria, type I
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GCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACAGCCCTTCCCCTCCTTGCCCAGTCCCCTCCCCCTGCAAGGCACTCTCCACTCTTCTCCCCCAGGGGCCACAGGCAGACCTCCCCTCTGTCTCTCTGAACCCTCCTCTGTCTCTCCCAGACCCAGATGTTTCCTTCTGCCCTGGGGTAGTCCCAGGCCCTGCCCCAGGCAAAGTCAAACTGGGGGCTCCAGGGGCTCCCCTGCACCAAGGCCTGCAGAGTCAGGTTCTTCCTCCCGCACCACAGAGGGCGGGGCTTCCTGCCCACCCCACCCATGTCACTGCCCACCAGCGCCATCTCCCACACAGGGCCTGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCTGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGTAAGGAGGCCCCTGGCATTGGGCAGCCCTGCACCCATGGGGAAGGATGAGGGGCTCTTGCCCAGCCCCCTCAAGAGGGACACTGGCTCCTGAGAAGGAGGGGGCGGCTGCCCGGTGGTGTGGCCTCGGTGCCAGGGATTAGTCTCGGCAGGAGCCACGAAGTCACAGCTCCCGGCCTCTGATGCGGGATCTCAGGACGGCCTGTGATCTCCCAGTGGGAAGGTGCCCATCCACCGCCTCCTAAGGGGTGGGGTCCCTGCTCTCTCCCGGCCCTTTCTCCCCCGGCTCCTCTGGAACCTGAAGCTGGGGCAGATGGTGCAGGCCAAGAGCTGTCACAAAGGCCCGTACAGGGCCTCTCACCCACGCACTGAGCCAGGCCCCTCCTGCAGGCGCTCCGGCTTCCCACAGTCACCACTGTGGCTGTACCCGCTGGCTATGACTGGAGAGACATCGTCAGCTACGTCATAGACCACTTCGACATTGAGATCATGGGTGGCCTTGGGCCCTCCACGGGGAAGGTGAGAGGGAGCGCCTCGAGGGCCTTTTGCAGAAACCAAACCCGCCACCCCTCCTTGAGCAGGACTGTGCACCAGGTGCAGGGGAGGCCGGGGTCATCCGAAAGCCCAGATTGCAGGAGCGTCCAGAAGGGCCCACTCTCCAAGGGGTATCCAGTAAAGCGTATCCTGTCGCCCCTGCTCCCACCCCAGCCCACTGAGGTCACCAGGTGCAGCCTTTATGATTCCACTCGGAACATCCTTCCTTCCCTCTGACCAGACCCTGGAACCAGGCCGGAAGCCCCACGCCTGGGCCTGGCTGTGTCTCTGAGTGGCAGTGGGGAGGGACCTTCACTGCACCACCCTGTCCTCCCGTGTGGCTGCGGGTGCAGAGGGAGGAGAGCCTGCCCTGGCCTGGGTGCTCAAGGGCCCCCTCTGTGACCTGCACAGGGCTGTCAACTCCCCTCATGGACGCTGGGTGGGTGGTCCTCACTCAGGTGAGCCCATCCTGGCTCTGGCCAGCTGTCGGTCAGGGTCAGGCAGGTCCCAGGCGGGAGGCTGACGTCAGCCCGCCCTGTGCCCCCCAGGTGCTGCGGATCGGCCTGCTGGGCTGCAATGCCACCCGCGAGAATGTGGACCGCGTGACGGAGGCCCTGAGGGCGGCCCTGCAGCACTGCCCCAAGAAGAAGCTGTGACCTGCCCACTGGCACACAGCTGGCACTGGCACACACCTGTCCCATGCCCACCCTGAGGGATCAGGAGCAAACAGACCCTGCAAGGTCCTCCAGGCCTGGGGACAGGAAAGCCACTGACCCAGCCCGGGAGGCAGAACCAGGCAGCCTCCCTGGCCCCAGGCAGCCCTTTTCCCTCCAGTGGCACCTCCTGGAAACAGTCCACTTGGGCGCAAAACCCAGTGCCTTCCAAATGAGCTGCAGTCCCCAGGCCATGAGCCTCCCGGGAATGTTTAATAAAGGGCCTGGCCAACTCTCCTCACTGTGTGGGGTGGTCTGTGAAAGAGTGAGAGGAGAGCATCTCTGCTCCCTGAGCTGCCTGATTGTGGACTTTAGGGGGACACTCCTCATCCTGGAGCCCACAGGGTAGATCCTCCCCTGGAGGAGGTGCTGTCACCACACTCTAGCCCCAGATGTCACACCCCCAAACGTCCTCACGCACCACATCCAGGTGAACCCACACGGCGCACAGGGCTGGTTGGAGACCCCTGTCATGGACAAGGGTACCTGCGTGCTGGAGAGCGCACAGCCAGGACCTGAGCCCATGACACGTGGAAGCCTCCAATGGAAGGTCCCCTATGCTCCCATCCAGCCAGTGCCCACCCCTCAACTGCCTGACTTCTGTGACCATAGATCAGCCTGGCATATTTGAATTTATTTATTTATTTTGAAACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTAC
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GCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACAGCCCTTCCCCTCCTTGCCCAGTCCCCTCCCCCTGCAAGGCACTCTCCACTCTTCTCCCCCAGGGGCCACAGGCAGACCTCCCCTCTGTCTCTCTGAACCCTCCTCTGTCTCTCCCAGACCCAGATGTTTCCTTCTGCCCTGGGGTAGTCCCAGGCCCTGCCCCAGGCAAAGTCAAACTGGGGGCTCCAGGGGCTCCCCTGCACCAAGGCCTGCAGAGTCAGGTTCTTCCTCCCGCACCACAGAGGGCGGGGCTTCCTGCCCACCCCACCCATGTCACTGCCCACCAGCGCCATCTCCCACACAGGGCCCGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCTGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGTAAGGAGGCCCCTGGCATTGGGCAGCCCTGCACCCATGGGGAAGGATGAGGGGCTCTTGCCCAGCCCCCTCAAGAGGGACACTGGCTCCTGAGAAGGAGGGGGCGGCTGCCCGGTGGTGTGGCCTCGGTGCCAGGGATTAGTCTCGGCAGGAGCCACGAAGTCACAGCTCCCGGCCTCTGATGCGGGATCTCAGGACGGCCTGTGATCTCCCAGTGGGAAGGTGCCCATCCACCGCCTCCTAAGGGGTGGGGTCCCTGCTCTCTCCCGGCCCTTTCTCCCCCGGCTCCTCTGGAACCTGAAGCTGGGGCAGATGGTGCAGGCCAAGAGCTGTCACAAAGGCCCGTACAGGGCCTCTCACCCACGCACTGAGCCAGGCCCCTCCTGCAGGCGCTCCGGCTTCCCACAGTCACCACTGTGGCTGTACCCGCTGGCTATGACTGGAGAGACATCGTCAGCTACGTCATAGACCACTTCGACATTGAGATCATGGGTGGCCTTGGGCCCTCCACGGGGAAGGTGAGAGGGAGCGCCTCGAGGGCCTTTTGCAGAAACCAAACCCGCCACCCCTCCTTGAGCAGGACTGTGCACCAGGTGCAGGGGAGGCCGGGGTCATCCGAAAGCCCAGATTGCAGGAGCGTCCAGAAGGGCCCACTCTCCAAGGGGTATCCAGTAAAGCGTATCCTGTCGCCCCTGCTCCCACCCCAGCCCACTGAGGTCACCAGGTGCAGCCTTTATGATTCCACTCGGAACATCCTTCCTTCCCTCTGACCAGACCCTGGAACCAGGCCGGAAGCCCCACGCCTGGGCCTGGCTGTGTCTCTGAGTGGCAGTGGGGAGGGACCTTCACTGCACCACCCTGTCCTCCCGTGTGGCTGCGGGTGCAGAGGGAGGAGAGCCTGCCCTGGCCTGGGTGCTCAAGGGCCCCCTCTGTGACCTGCACAGGGCTGTCAACTCCCCTCATGGACGCTGGGTGGGTGGTCCTCACTCAGGTGAGCCCATCCTGGCTCTGGCCAGCTGTCGGTCAGGGTCAGGCAGGTCCCAGGCGGGAGGCTGACGTCAGCCCGCCCTGTGCCCCCCAGGTGCTGCGGATCGGCCTGCTGGGCTGCAATGCCACCCGCGAGAATGTGGACCGCGTGACGGAGGCCCTGAGGGCGGCCCTGCAGCACTGCCCCAAGAAGAAGCTGTGACCTGCCCACTGGCACACAGCTGGCACTGGCACACACCTGTCCCATGCCCACCCTGAGGGATCAGGAGCAAACAGACCCTGCAAGGTCCTCCAGGCCTGGGGACAGGAAAGCCACTGACCCAGCCCGGGAGGCAGAACCAGGCAGCCTCCCTGGCCCCAGGCAGCCCTTTTCCCTCCAGTGGCACCTCCTGGAAACAGTCCACTTGGGCGCAAAACCCAGTGCCTTCCAAATGAGCTGCAGTCCCCAGGCCATGAGCCTCCCGGGAATGTTTAATAAAGGGCCTGGCCAACTCTCCTCACTGTGTGGGGTGGTCTGTGAAAGAGTGAGAGGAGAGCATCTCTGCTCCCTGAGCTGCCTGATTGTGGACTTTAGGGGGACACTCCTCATCCTGGAGCCCACAGGGTAGATCCTCCCCTGGAGGAGGTGCTGTCACCACACTCTAGCCCCAGATGTCACACCCCCAAACGTCCTCACGCACCACATCCAGGTGAACCCACACGGCGCACAGGGCTGGTTGGAGACCCCTGTCATGGACAAGGGTACCTGCGTGCTGGAGAGCGCACAGCCAGGACCTGAGCCCATGACACGTGGAAGCCTCCAATGGAAGGTCCCCTATGCTCCCATCCAGCCAGTGCCCACCCCTCAACTGCCTGACTTCTGTGACCATAGATCAGCCTGGCATATTTGAATTTATTTATTTATTTTGAAACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTAC
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Task1_train_5853
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Located on Chromosome 2, this mutation impacts AGXT (alanine--glyoxylate aminotransferase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Primary hyperoxaluria
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TCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACAGCCCTTCCCCTCCTTGCCCAGTCCCCTCCCCCTGCAAGGCACTCTCCACTCTTCTCCCCCAGGGGCCACAGGCAGACCTCCCCTCTGTCTCTCTGAACCCTCCTCTGTCTCTCCCAGACCCAGATGTTTCCTTCTGCCCTGGGGTAGTCCCAGGCCCTGCCCCAGGCAAAGTCAAACTGGGGGCTCCAGGGGCTCCCCTGCACCAAGGCCTGCAGAGTCAGGTTCTTCCTCCCGCACCACAGAGGGCGGGGCTTCCTGCCCACCCCACCCATGTCACTGCCCACCAGCGCCATCTCCCACACAGGGCCTGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCTGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGTAAGGAGGCCCCTGGCATTGGGCAGCCCTGCACCCATGGGGAAGGATGAGGGGCTCTTGCCCAGCCCCCTCAAGAGGGACACTGGCTCCTGAGAAGGAGGGGGCGGCTGCCCGGTGGTGTGGCCTCGGTGCCAGGGATTAGTCTCGGCAGGAGCCACGAAGTCACAGCTCCCGGCCTCTGATGCGGGATCTCAGGACGGCCTGTGATCTCCCAGTGGGAAGGTGCCCATCCACCGCCTCCTAAGGGGTGGGGTCCCTGCTCTCTCCCGGCCCTTTCTCCCCCGGCTCCTCTGGAACCTGAAGCTGGGGCAGATGGTGCAGGCCAAGAGCTGTCACAAAGGCCCGTACAGGGCCTCTCACCCACGCACTGAGCCAGGCCCCTCCTGCAGGCGCTCCGGCTTCCCACAGTCACCACTGTGGCTGTACCCGCTGGCTATGACTGGAGAGACATCGTCAGCTACGTCATAGACCACTTCGACATTGAGATCATGGGTGGCCTTGGGCCCTCCACGGGGAAGGTGAGAGGGAGCGCCTCGAGGGCCTTTTGCAGAAACCAAACCCGCCACCCCTCCTTGAGCAGGACTGTGCACCAGGTGCAGGGGAGGCCGGGGTCATCCGAAAGCCCAGATTGCAGGAGCGTCCAGAAGGGCCCACTCTCCAAGGGGTATCCAGTAAAGCGTATCCTGTCGCCCCTGCTCCCACCCCAGCCCACTGAGGTCACCAGGTGCAGCCTTTATGATTCCACTCGGAACATCCTTCCTTCCCTCTGACCAGACCCTGGAACCAGGCCGGAAGCCCCACGCCTGGGCCTGGCTGTGTCTCTGAGTGGCAGTGGGGAGGGACCTTCACTGCACCACCCTGTCCTCCCGTGTGGCTGCGGGTGCAGAGGGAGGAGAGCCTGCCCTGGCCTGGGTGCTCAAGGGCCCCCTCTGTGACCTGCACAGGGCTGTCAACTCCCCTCATGGACGCTGGGTGGGTGGTCCTCACTCAGGTGAGCCCATCCTGGCTCTGGCCAGCTGTCGGTCAGGGTCAGGCAGGTCCCAGGCGGGAGGCTGACGTCAGCCCGCCCTGTGCCCCCCAGGTGCTGCGGATCGGCCTGCTGGGCTGCAATGCCACCCGCGAGAATGTGGACCGCGTGACGGAGGCCCTGAGGGCGGCCCTGCAGCACTGCCCCAAGAAGAAGCTGTGACCTGCCCACTGGCACACAGCTGGCACTGGCACACACCTGTCCCATGCCCACCCTGAGGGATCAGGAGCAAACAGACCCTGCAAGGTCCTCCAGGCCTGGGGACAGGAAAGCCACTGACCCAGCCCGGGAGGCAGAACCAGGCAGCCTCCCTGGCCCCAGGCAGCCCTTTTCCCTCCAGTGGCACCTCCTGGAAACAGTCCACTTGGGCGCAAAACCCAGTGCCTTCCAAATGAGCTGCAGTCCCCAGGCCATGAGCCTCCCGGGAATGTTTAATAAAGGGCCTGGCCAACTCTCCTCACTGTGTGGGGTGGTCTGTGAAAGAGTGAGAGGAGAGCATCTCTGCTCCCTGAGCTGCCTGATTGTGGACTTTAGGGGGACACTCCTCATCCTGGAGCCCACAGGGTAGATCCTCCCCTGGAGGAGGTGCTGTCACCACACTCTAGCCCCAGATGTCACACCCCCAAACGTCCTCACGCACCACATCCAGGTGAACCCACACGGCGCACAGGGCTGGTTGGAGACCCCTGTCATGGACAAGGGTACCTGCGTGCTGGAGAGCGCACAGCCAGGACCTGAGCCCATGACACGTGGAAGCCTCCAATGGAAGGTCCCCTATGCTCCCATCCAGCCAGTGCCCACCCCTCAACTGCCTGACTTCTGTGACCATAGATCAGCCTGGCATATTTGAATTTATTTATTTATTTTGAAACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTACAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGGC
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TCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACAGCCCTTCCCCTCCTTGCCCAGTCCCCTCCCCCTGCAAGGCACTCTCCACTCTTCTCCCCCAGGGGCCACAGGCAGACCTCCCCTCTGTCTCTCTGAACCCTCCTCTGTCTCTCCCAGACCCAGATGTTTCCTTCTGCCCTGGGGTAGTCCCAGGCCCTGCCCCAGGCAAAGTCAAACTGGGGGCTCCAGGGGCTCCCCTGCACCAAGGCCTGCAGAGTCAGGTTCTTCCTCCCGCACCACAGAGGGCGGGGCTTCCTGCCCACCCCACCCATGTCACTGCCCACCAGCGCCATCTCCCACACAGGGCCTGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCCGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGTAAGGAGGCCCCTGGCATTGGGCAGCCCTGCACCCATGGGGAAGGATGAGGGGCTCTTGCCCAGCCCCCTCAAGAGGGACACTGGCTCCTGAGAAGGAGGGGGCGGCTGCCCGGTGGTGTGGCCTCGGTGCCAGGGATTAGTCTCGGCAGGAGCCACGAAGTCACAGCTCCCGGCCTCTGATGCGGGATCTCAGGACGGCCTGTGATCTCCCAGTGGGAAGGTGCCCATCCACCGCCTCCTAAGGGGTGGGGTCCCTGCTCTCTCCCGGCCCTTTCTCCCCCGGCTCCTCTGGAACCTGAAGCTGGGGCAGATGGTGCAGGCCAAGAGCTGTCACAAAGGCCCGTACAGGGCCTCTCACCCACGCACTGAGCCAGGCCCCTCCTGCAGGCGCTCCGGCTTCCCACAGTCACCACTGTGGCTGTACCCGCTGGCTATGACTGGAGAGACATCGTCAGCTACGTCATAGACCACTTCGACATTGAGATCATGGGTGGCCTTGGGCCCTCCACGGGGAAGGTGAGAGGGAGCGCCTCGAGGGCCTTTTGCAGAAACCAAACCCGCCACCCCTCCTTGAGCAGGACTGTGCACCAGGTGCAGGGGAGGCCGGGGTCATCCGAAAGCCCAGATTGCAGGAGCGTCCAGAAGGGCCCACTCTCCAAGGGGTATCCAGTAAAGCGTATCCTGTCGCCCCTGCTCCCACCCCAGCCCACTGAGGTCACCAGGTGCAGCCTTTATGATTCCACTCGGAACATCCTTCCTTCCCTCTGACCAGACCCTGGAACCAGGCCGGAAGCCCCACGCCTGGGCCTGGCTGTGTCTCTGAGTGGCAGTGGGGAGGGACCTTCACTGCACCACCCTGTCCTCCCGTGTGGCTGCGGGTGCAGAGGGAGGAGAGCCTGCCCTGGCCTGGGTGCTCAAGGGCCCCCTCTGTGACCTGCACAGGGCTGTCAACTCCCCTCATGGACGCTGGGTGGGTGGTCCTCACTCAGGTGAGCCCATCCTGGCTCTGGCCAGCTGTCGGTCAGGGTCAGGCAGGTCCCAGGCGGGAGGCTGACGTCAGCCCGCCCTGTGCCCCCCAGGTGCTGCGGATCGGCCTGCTGGGCTGCAATGCCACCCGCGAGAATGTGGACCGCGTGACGGAGGCCCTGAGGGCGGCCCTGCAGCACTGCCCCAAGAAGAAGCTGTGACCTGCCCACTGGCACACAGCTGGCACTGGCACACACCTGTCCCATGCCCACCCTGAGGGATCAGGAGCAAACAGACCCTGCAAGGTCCTCCAGGCCTGGGGACAGGAAAGCCACTGACCCAGCCCGGGAGGCAGAACCAGGCAGCCTCCCTGGCCCCAGGCAGCCCTTTTCCCTCCAGTGGCACCTCCTGGAAACAGTCCACTTGGGCGCAAAACCCAGTGCCTTCCAAATGAGCTGCAGTCCCCAGGCCATGAGCCTCCCGGGAATGTTTAATAAAGGGCCTGGCCAACTCTCCTCACTGTGTGGGGTGGTCTGTGAAAGAGTGAGAGGAGAGCATCTCTGCTCCCTGAGCTGCCTGATTGTGGACTTTAGGGGGACACTCCTCATCCTGGAGCCCACAGGGTAGATCCTCCCCTGGAGGAGGTGCTGTCACCACACTCTAGCCCCAGATGTCACACCCCCAAACGTCCTCACGCACCACATCCAGGTGAACCCACACGGCGCACAGGGCTGGTTGGAGACCCCTGTCATGGACAAGGGTACCTGCGTGCTGGAGAGCGCACAGCCAGGACCTGAGCCCATGACACGTGGAAGCCTCCAATGGAAGGTCCCCTATGCTCCCATCCAGCCAGTGCCCACCCCTCAACTGCCTGACTTCTGTGACCATAGATCAGCCTGGCATATTTGAATTTATTTATTTATTTTGAAACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTACAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGGC
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Task1_train_5854
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Consider this mutation in AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2. Is this a benign change or a disease-causing variant?
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Pathogenic; Primary hyperoxaluria, type I
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GAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACAGCCCTTCCCCTCCTTGCCCAGTCCCCTCCCCCTGCAAGGCACTCTCCACTCTTCTCCCCCAGGGGCCACAGGCAGACCTCCCCTCTGTCTCTCTGAACCCTCCTCTGTCTCTCCCAGACCCAGATGTTTCCTTCTGCCCTGGGGTAGTCCCAGGCCCTGCCCCAGGCAAAGTCAAACTGGGGGCTCCAGGGGCTCCCCTGCACCAAGGCCTGCAGAGTCAGGTTCTTCCTCCCGCACCACAGAGGGCGGGGCTTCCTGCCCACCCCACCCATGTCACTGCCCACCAGCGCCATCTCCCACACAGGGCCTGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCTGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGTAAGGAGGCCCCTGGCATTGGGCAGCCCTGCACCCATGGGGAAGGATGAGGGGCTCTTGCCCAGCCCCCTCAAGAGGGACACTGGCTCCTGAGAAGGAGGGGGCGGCTGCCCGGTGGTGTGGCCTCGGTGCCAGGGATTAGTCTCGGCAGGAGCCACGAAGTCACAGCTCCCGGCCTCTGATGCGGGATCTCAGGACGGCCTGTGATCTCCCAGTGGGAAGGTGCCCATCCACCGCCTCCTAAGGGGTGGGGTCCCTGCTCTCTCCCGGCCCTTTCTCCCCCGGCTCCTCTGGAACCTGAAGCTGGGGCAGATGGTGCAGGCCAAGAGCTGTCACAAAGGCCCGTACAGGGCCTCTCACCCACGCACTGAGCCAGGCCCCTCCTGCAGGCGCTCCGGCTTCCCACAGTCACCACTGTGGCTGTACCCGCTGGCTATGACTGGAGAGACATCGTCAGCTACGTCATAGACCACTTCGACATTGAGATCATGGGTGGCCTTGGGCCCTCCACGGGGAAGGTGAGAGGGAGCGCCTCGAGGGCCTTTTGCAGAAACCAAACCCGCCACCCCTCCTTGAGCAGGACTGTGCACCAGGTGCAGGGGAGGCCGGGGTCATCCGAAAGCCCAGATTGCAGGAGCGTCCAGAAGGGCCCACTCTCCAAGGGGTATCCAGTAAAGCGTATCCTGTCGCCCCTGCTCCCACCCCAGCCCACTGAGGTCACCAGGTGCAGCCTTTATGATTCCACTCGGAACATCCTTCCTTCCCTCTGACCAGACCCTGGAACCAGGCCGGAAGCCCCACGCCTGGGCCTGGCTGTGTCTCTGAGTGGCAGTGGGGAGGGACCTTCACTGCACCACCCTGTCCTCCCGTGTGGCTGCGGGTGCAGAGGGAGGAGAGCCTGCCCTGGCCTGGGTGCTCAAGGGCCCCCTCTGTGACCTGCACAGGGCTGTCAACTCCCCTCATGGACGCTGGGTGGGTGGTCCTCACTCAGGTGAGCCCATCCTGGCTCTGGCCAGCTGTCGGTCAGGGTCAGGCAGGTCCCAGGCGGGAGGCTGACGTCAGCCCGCCCTGTGCCCCCCAGGTGCTGCGGATCGGCCTGCTGGGCTGCAATGCCACCCGCGAGAATGTGGACCGCGTGACGGAGGCCCTGAGGGCGGCCCTGCAGCACTGCCCCAAGAAGAAGCTGTGACCTGCCCACTGGCACACAGCTGGCACTGGCACACACCTGTCCCATGCCCACCCTGAGGGATCAGGAGCAAACAGACCCTGCAAGGTCCTCCAGGCCTGGGGACAGGAAAGCCACTGACCCAGCCCGGGAGGCAGAACCAGGCAGCCTCCCTGGCCCCAGGCAGCCCTTTTCCCTCCAGTGGCACCTCCTGGAAACAGTCCACTTGGGCGCAAAACCCAGTGCCTTCCAAATGAGCTGCAGTCCCCAGGCCATGAGCCTCCCGGGAATGTTTAATAAAGGGCCTGGCCAACTCTCCTCACTGTGTGGGGTGGTCTGTGAAAGAGTGAGAGGAGAGCATCTCTGCTCCCTGAGCTGCCTGATTGTGGACTTTAGGGGGACACTCCTCATCCTGGAGCCCACAGGGTAGATCCTCCCCTGGAGGAGGTGCTGTCACCACACTCTAGCCCCAGATGTCACACCCCCAAACGTCCTCACGCACCACATCCAGGTGAACCCACACGGCGCACAGGGCTGGTTGGAGACCCCTGTCATGGACAAGGGTACCTGCGTGCTGGAGAGCGCACAGCCAGGACCTGAGCCCATGACACGTGGAAGCCTCCAATGGAAGGTCCCCTATGCTCCCATCCAGCCAGTGCCCACCCCTCAACTGCCTGACTTCTGTGACCATAGATCAGCCTGGCATATTTGAATTTATTTATTTATTTTGAAACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTACAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGGCTCCGGATTAGCTGGGACTACAGGTGTGCACCACCATGCCCGGCTAATTTTTGTATTTTTAGTACAGATGGGGTTTCACTATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCAGCCATAGTTGAATTTCATGGTCAGTGGAACACACAGCAGGTCCTCCACTGTGCCAGCTTCTTTCACTTACTGTTTTTGACACTCACATGTACCGTCGTGGGCGCCGGTGTGTCTTTGTTGCTGAGTGCCGTCCCGTCATATGGACGTGCGTCGTGGGCGCCGGTGTGTCTTGTTGCTGAGTGCCGTCCCGTCATATGGACACCTCATGATTTGTTGGTTCATCACCATAGTTGAGCATCTGGGTTATTTCTATTTTGGGGCTGTTAT
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GAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACAGCCCTTCCCCTCCTTGCCCAGTCCCCTCCCCCTGCAAGGCACTCTCCACTCTTCTCCCCCAGGGGCCACAGGCAGACCTCCCCTCTGTCTCTCTGAACCCTCCTCTGTCTCTCCCAGACCCAGATGTTTCCTTCTGCCCTGGGGTAGTCCCAGGCCCTGCCCCAGGCAAAGTCAAACTGGGGGCTCCAGGGGCTCCCCTGCACCAAGGCCTGCAGAGTCAGGTTCTTCCTCCCGCACCACAGAGGGCGGGGCTTCCTGCCCACCCCACCCATGTCACTGCCCACCAGCGCCATCTCCCACACAGGGCCTGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCTGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGTAAGGAGGCCCCTGGCATTGGGCAGCCCTGCACCCATGGGGAAGGATGAGGGGCTCTTGCCCAGCCCCCTCAAGAGGGACACTGGCTCCTGAGAAGGAGGGGGCGGCTGCCCGGTGGTGTGGCCTCGGTGCCAGGGATTAGTCTCGGCAGGAGCCACGAAGTCACAGCTCCCGGCCTCTGATGCGGGATCTCAGGACGGCCTGTGATCTCCCAGTGGGAAGGTGCCCATCCACCGCCTCCTAAGGGGTGGGGTCCCTGCTCTCTCCCGGCCCTTTCTCCCCCGGCTCCTCTGGAACCTGAAGCTGGGGCAGATGGTGCAGGCCAAGAGCTGTCACAAAGGCCCGTACAGGGCCTCTCACCCACGCACTGAGCCAGGCCCCTCCTGCAGGCGCCCCGGCTTCCCACAGTCACCACTGTGGCTGTACCCGCTGGCTATGACTGGAGAGACATCGTCAGCTACGTCATAGACCACTTCGACATTGAGATCATGGGTGGCCTTGGGCCCTCCACGGGGAAGGTGAGAGGGAGCGCCTCGAGGGCCTTTTGCAGAAACCAAACCCGCCACCCCTCCTTGAGCAGGACTGTGCACCAGGTGCAGGGGAGGCCGGGGTCATCCGAAAGCCCAGATTGCAGGAGCGTCCAGAAGGGCCCACTCTCCAAGGGGTATCCAGTAAAGCGTATCCTGTCGCCCCTGCTCCCACCCCAGCCCACTGAGGTCACCAGGTGCAGCCTTTATGATTCCACTCGGAACATCCTTCCTTCCCTCTGACCAGACCCTGGAACCAGGCCGGAAGCCCCACGCCTGGGCCTGGCTGTGTCTCTGAGTGGCAGTGGGGAGGGACCTTCACTGCACCACCCTGTCCTCCCGTGTGGCTGCGGGTGCAGAGGGAGGAGAGCCTGCCCTGGCCTGGGTGCTCAAGGGCCCCCTCTGTGACCTGCACAGGGCTGTCAACTCCCCTCATGGACGCTGGGTGGGTGGTCCTCACTCAGGTGAGCCCATCCTGGCTCTGGCCAGCTGTCGGTCAGGGTCAGGCAGGTCCCAGGCGGGAGGCTGACGTCAGCCCGCCCTGTGCCCCCCAGGTGCTGCGGATCGGCCTGCTGGGCTGCAATGCCACCCGCGAGAATGTGGACCGCGTGACGGAGGCCCTGAGGGCGGCCCTGCAGCACTGCCCCAAGAAGAAGCTGTGACCTGCCCACTGGCACACAGCTGGCACTGGCACACACCTGTCCCATGCCCACCCTGAGGGATCAGGAGCAAACAGACCCTGCAAGGTCCTCCAGGCCTGGGGACAGGAAAGCCACTGACCCAGCCCGGGAGGCAGAACCAGGCAGCCTCCCTGGCCCCAGGCAGCCCTTTTCCCTCCAGTGGCACCTCCTGGAAACAGTCCACTTGGGCGCAAAACCCAGTGCCTTCCAAATGAGCTGCAGTCCCCAGGCCATGAGCCTCCCGGGAATGTTTAATAAAGGGCCTGGCCAACTCTCCTCACTGTGTGGGGTGGTCTGTGAAAGAGTGAGAGGAGAGCATCTCTGCTCCCTGAGCTGCCTGATTGTGGACTTTAGGGGGACACTCCTCATCCTGGAGCCCACAGGGTAGATCCTCCCCTGGAGGAGGTGCTGTCACCACACTCTAGCCCCAGATGTCACACCCCCAAACGTCCTCACGCACCACATCCAGGTGAACCCACACGGCGCACAGGGCTGGTTGGAGACCCCTGTCATGGACAAGGGTACCTGCGTGCTGGAGAGCGCACAGCCAGGACCTGAGCCCATGACACGTGGAAGCCTCCAATGGAAGGTCCCCTATGCTCCCATCCAGCCAGTGCCCACCCCTCAACTGCCTGACTTCTGTGACCATAGATCAGCCTGGCATATTTGAATTTATTTATTTATTTTGAAACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTACAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGGCTCCGGATTAGCTGGGACTACAGGTGTGCACCACCATGCCCGGCTAATTTTTGTATTTTTAGTACAGATGGGGTTTCACTATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCAGCCATAGTTGAATTTCATGGTCAGTGGAACACACAGCAGGTCCTCCACTGTGCCAGCTTCTTTCACTTACTGTTTTTGACACTCACATGTACCGTCGTGGGCGCCGGTGTGTCTTTGTTGCTGAGTGCCGTCCCGTCATATGGACGTGCGTCGTGGGCGCCGGTGTGTCTTGTTGCTGAGTGCCGTCCCGTCATATGGACACCTCATGATTTGTTGGTTCATCACCATAGTTGAGCATCTGGGTTATTTCTATTTTGGGGCTGTTAT
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Task1_train_5855
|
This variant affects gene AGXT (alanine--glyoxylate aminotransferase) located on Chromosome 2. Evaluate its biological effect and specify any disease association.
|
Pathogenic; Primary hyperoxaluria, type I
|
GCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACAGCCCTTCCCCTCCTTGCCCAGTCCCCTCCCCCTGCAAGGCACTCTCCACTCTTCTCCCCCAGGGGCCACAGGCAGACCTCCCCTCTGTCTCTCTGAACCCTCCTCTGTCTCTCCCAGACCCAGATGTTTCCTTCTGCCCTGGGGTAGTCCCAGGCCCTGCCCCAGGCAAAGTCAAACTGGGGGCTCCAGGGGCTCCCCTGCACCAAGGCCTGCAGAGTCAGGTTCTTCCTCCCGCACCACAGAGGGCGGGGCTTCCTGCCCACCCCACCCATGTCACTGCCCACCAGCGCCATCTCCCACACAGGGCCTGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCTGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGTAAGGAGGCCCCTGGCATTGGGCAGCCCTGCACCCATGGGGAAGGATGAGGGGCTCTTGCCCAGCCCCCTCAAGAGGGACACTGGCTCCTGAGAAGGAGGGGGCGGCTGCCCGGTGGTGTGGCCTCGGTGCCAGGGATTAGTCTCGGCAGGAGCCACGAAGTCACAGCTCCCGGCCTCTGATGCGGGATCTCAGGACGGCCTGTGATCTCCCAGTGGGAAGGTGCCCATCCACCGCCTCCTAAGGGGTGGGGTCCCTGCTCTCTCCCGGCCCTTTCTCCCCCGGCTCCTCTGGAACCTGAAGCTGGGGCAGATGGTGCAGGCCAAGAGCTGTCACAAAGGCCCGTACAGGGCCTCTCACCCACGCACTGAGCCAGGCCCCTCCTGCAGGCGCTCCGGCTTCCCACAGTCACCACTGTGGCTGTACCCGCTGGCTATGACTGGAGAGACATCGTCAGCTACGTCATAGACCACTTCGACATTGAGATCATGGGTGGCCTTGGGCCCTCCACGGGGAAGGTGAGAGGGAGCGCCTCGAGGGCCTTTTGCAGAAACCAAACCCGCCACCCCTCCTTGAGCAGGACTGTGCACCAGGTGCAGGGGAGGCCGGGGTCATCCGAAAGCCCAGATTGCAGGAGCGTCCAGAAGGGCCCACTCTCCAAGGGGTATCCAGTAAAGCGTATCCTGTCGCCCCTGCTCCCACCCCAGCCCACTGAGGTCACCAGGTGCAGCCTTTATGATTCCACTCGGAACATCCTTCCTTCCCTCTGACCAGACCCTGGAACCAGGCCGGAAGCCCCACGCCTGGGCCTGGCTGTGTCTCTGAGTGGCAGTGGGGAGGGACCTTCACTGCACCACCCTGTCCTCCCGTGTGGCTGCGGGTGCAGAGGGAGGAGAGCCTGCCCTGGCCTGGGTGCTCAAGGGCCCCCTCTGTGACCTGCACAGGGCTGTCAACTCCCCTCATGGACGCTGGGTGGGTGGTCCTCACTCAGGTGAGCCCATCCTGGCTCTGGCCAGCTGTCGGTCAGGGTCAGGCAGGTCCCAGGCGGGAGGCTGACGTCAGCCCGCCCTGTGCCCCCCAGGTGCTGCGGATCGGCCTGCTGGGCTGCAATGCCACCCGCGAGAATGTGGACCGCGTGACGGAGGCCCTGAGGGCGGCCCTGCAGCACTGCCCCAAGAAGAAGCTGTGACCTGCCCACTGGCACACAGCTGGCACTGGCACACACCTGTCCCATGCCCACCCTGAGGGATCAGGAGCAAACAGACCCTGCAAGGTCCTCCAGGCCTGGGGACAGGAAAGCCACTGACCCAGCCCGGGAGGCAGAACCAGGCAGCCTCCCTGGCCCCAGGCAGCCCTTTTCCCTCCAGTGGCACCTCCTGGAAACAGTCCACTTGGGCGCAAAACCCAGTGCCTTCCAAATGAGCTGCAGTCCCCAGGCCATGAGCCTCCCGGGAATGTTTAATAAAGGGCCTGGCCAACTCTCCTCACTGTGTGGGGTGGTCTGTGAAAGAGTGAGAGGAGAGCATCTCTGCTCCCTGAGCTGCCTGATTGTGGACTTTAGGGGGACACTCCTCATCCTGGAGCCCACAGGGTAGATCCTCCCCTGGAGGAGGTGCTGTCACCACACTCTAGCCCCAGATGTCACACCCCCAAACGTCCTCACGCACCACATCCAGGTGAACCCACACGGCGCACAGGGCTGGTTGGAGACCCCTGTCATGGACAAGGGTACCTGCGTGCTGGAGAGCGCACAGCCAGGACCTGAGCCCATGACACGTGGAAGCCTCCAATGGAAGGTCCCCTATGCTCCCATCCAGCCAGTGCCCACCCCTCAACTGCCTGACTTCTGTGACCATAGATCAGCCTGGCATATTTGAATTTATTTATTTATTTTGAAACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTACAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGGCTCCGGATTAGCTGGGACTACAGGTGTGCACCACCATGCCCGGCTAATTTTTGTATTTTTAGTACAGATGGGGTTTCACTATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCAGCCATAGTTGAATTTCATGGTCAGTGGAACACACAGCAGGTCCTCCACTGTGCCAGCTTCTTTCACTTACTGTTTTTGACACTCACATGTACCGTCGTGGGCGCCGGTGTGTCTTTGTTGCTGAGTGCCGTCCCGTCATATGGACGTGCGTCGTGGGCGCCGGTGTGTCTTGTTGCTGAGTGCCGTCCCGTCATATGGACACCTCATGATTTGTTGGTTCATCACCATAGTTGAGCATCTGGGTTATTTCTATTTTGGGGCTGTTATGAATACGGA
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GCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACAGCCCTTCCCCTCCTTGCCCAGTCCCCTCCCCCTGCAAGGCACTCTCCACTCTTCTCCCCCAGGGGCCACAGGCAGACCTCCCCTCTGTCTCTCTGAACCCTCCTCTGTCTCTCCCAGACCCAGATGTTTCCTTCTGCCCTGGGGTAGTCCCAGGCCCTGCCCCAGGCAAAGTCAAACTGGGGGCTCCAGGGGCTCCCCTGCACCAAGGCCTGCAGAGTCAGGTTCTTCCTCCCGCACCACAGAGGGCGGGGCTTCCTGCCCACCCCACCCATGTCACTGCCCACCAGCGCCATCTCCCACACAGGGCCTGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCTGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGTAAGGAGGCCCCTGGCATTGGGCAGCCCTGCACCCATGGGGAAGGATGAGGGGCTCTTGCCCAGCCCCCTCAAGAGGGACACTGGCTCCTGAGAAGGAGGGGGCGGCTGCCCGGTGGTGTGGCCTCGGTGCCAGGGATTAGTCTCGGCAGGAGCCACGAAGTCACAGCTCCCGGCCTCTGATGCGGGATCTCAGGACGGCCTGTGATCTCCCAGTGGGAAGGTGCCCATCCACCGCCTCCTAAGGGGTGGGGTCCCTGCTCTCTCCCGGCCCTTTCTCCCCCGGCTCCTCTGGAACCTGAAGCTGGGGCAGATGGTGCAGGCCAAGAGCTGTCACAAAGGCCCGTACAGGGCCTCTCACCCACGCACTGAGCCAGGCCCCTCCTGCAGGCGCTCCGGCTTCTCACAGTCACCACTGTGGCTGTACCCGCTGGCTATGACTGGAGAGACATCGTCAGCTACGTCATAGACCACTTCGACATTGAGATCATGGGTGGCCTTGGGCCCTCCACGGGGAAGGTGAGAGGGAGCGCCTCGAGGGCCTTTTGCAGAAACCAAACCCGCCACCCCTCCTTGAGCAGGACTGTGCACCAGGTGCAGGGGAGGCCGGGGTCATCCGAAAGCCCAGATTGCAGGAGCGTCCAGAAGGGCCCACTCTCCAAGGGGTATCCAGTAAAGCGTATCCTGTCGCCCCTGCTCCCACCCCAGCCCACTGAGGTCACCAGGTGCAGCCTTTATGATTCCACTCGGAACATCCTTCCTTCCCTCTGACCAGACCCTGGAACCAGGCCGGAAGCCCCACGCCTGGGCCTGGCTGTGTCTCTGAGTGGCAGTGGGGAGGGACCTTCACTGCACCACCCTGTCCTCCCGTGTGGCTGCGGGTGCAGAGGGAGGAGAGCCTGCCCTGGCCTGGGTGCTCAAGGGCCCCCTCTGTGACCTGCACAGGGCTGTCAACTCCCCTCATGGACGCTGGGTGGGTGGTCCTCACTCAGGTGAGCCCATCCTGGCTCTGGCCAGCTGTCGGTCAGGGTCAGGCAGGTCCCAGGCGGGAGGCTGACGTCAGCCCGCCCTGTGCCCCCCAGGTGCTGCGGATCGGCCTGCTGGGCTGCAATGCCACCCGCGAGAATGTGGACCGCGTGACGGAGGCCCTGAGGGCGGCCCTGCAGCACTGCCCCAAGAAGAAGCTGTGACCTGCCCACTGGCACACAGCTGGCACTGGCACACACCTGTCCCATGCCCACCCTGAGGGATCAGGAGCAAACAGACCCTGCAAGGTCCTCCAGGCCTGGGGACAGGAAAGCCACTGACCCAGCCCGGGAGGCAGAACCAGGCAGCCTCCCTGGCCCCAGGCAGCCCTTTTCCCTCCAGTGGCACCTCCTGGAAACAGTCCACTTGGGCGCAAAACCCAGTGCCTTCCAAATGAGCTGCAGTCCCCAGGCCATGAGCCTCCCGGGAATGTTTAATAAAGGGCCTGGCCAACTCTCCTCACTGTGTGGGGTGGTCTGTGAAAGAGTGAGAGGAGAGCATCTCTGCTCCCTGAGCTGCCTGATTGTGGACTTTAGGGGGACACTCCTCATCCTGGAGCCCACAGGGTAGATCCTCCCCTGGAGGAGGTGCTGTCACCACACTCTAGCCCCAGATGTCACACCCCCAAACGTCCTCACGCACCACATCCAGGTGAACCCACACGGCGCACAGGGCTGGTTGGAGACCCCTGTCATGGACAAGGGTACCTGCGTGCTGGAGAGCGCACAGCCAGGACCTGAGCCCATGACACGTGGAAGCCTCCAATGGAAGGTCCCCTATGCTCCCATCCAGCCAGTGCCCACCCCTCAACTGCCTGACTTCTGTGACCATAGATCAGCCTGGCATATTTGAATTTATTTATTTATTTTGAAACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTACAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGGCTCCGGATTAGCTGGGACTACAGGTGTGCACCACCATGCCCGGCTAATTTTTGTATTTTTAGTACAGATGGGGTTTCACTATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCAGCCATAGTTGAATTTCATGGTCAGTGGAACACACAGCAGGTCCTCCACTGTGCCAGCTTCTTTCACTTACTGTTTTTGACACTCACATGTACCGTCGTGGGCGCCGGTGTGTCTTTGTTGCTGAGTGCCGTCCCGTCATATGGACGTGCGTCGTGGGCGCCGGTGTGTCTTGTTGCTGAGTGCCGTCCCGTCATATGGACACCTCATGATTTGTTGGTTCATCACCATAGTTGAGCATCTGGGTTATTTCTATTTTGGGGCTGTTATGAATACGGA
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Task1_train_5856
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This variant affects gene AGXT (alanine--glyoxylate aminotransferase) located on Chromosome 2. Evaluate its biological effect and specify any disease association.
|
Pathogenic; Primary hyperoxaluria, type I
|
AGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACAGCCCTTCCCCTCCTTGCCCAGTCCCCTCCCCCTGCAAGGCACTCTCCACTCTTCTCCCCCAGGGGCCACAGGCAGACCTCCCCTCTGTCTCTCTGAACCCTCCTCTGTCTCTCCCAGACCCAGATGTTTCCTTCTGCCCTGGGGTAGTCCCAGGCCCTGCCCCAGGCAAAGTCAAACTGGGGGCTCCAGGGGCTCCCCTGCACCAAGGCCTGCAGAGTCAGGTTCTTCCTCCCGCACCACAGAGGGCGGGGCTTCCTGCCCACCCCACCCATGTCACTGCCCACCAGCGCCATCTCCCACACAGGGCCTGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCTGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGTAAGGAGGCCCCTGGCATTGGGCAGCCCTGCACCCATGGGGAAGGATGAGGGGCTCTTGCCCAGCCCCCTCAAGAGGGACACTGGCTCCTGAGAAGGAGGGGGCGGCTGCCCGGTGGTGTGGCCTCGGTGCCAGGGATTAGTCTCGGCAGGAGCCACGAAGTCACAGCTCCCGGCCTCTGATGCGGGATCTCAGGACGGCCTGTGATCTCCCAGTGGGAAGGTGCCCATCCACCGCCTCCTAAGGGGTGGGGTCCCTGCTCTCTCCCGGCCCTTTCTCCCCCGGCTCCTCTGGAACCTGAAGCTGGGGCAGATGGTGCAGGCCAAGAGCTGTCACAAAGGCCCGTACAGGGCCTCTCACCCACGCACTGAGCCAGGCCCCTCCTGCAGGCGCTCCGGCTTCCCACAGTCACCACTGTGGCTGTACCCGCTGGCTATGACTGGAGAGACATCGTCAGCTACGTCATAGACCACTTCGACATTGAGATCATGGGTGGCCTTGGGCCCTCCACGGGGAAGGTGAGAGGGAGCGCCTCGAGGGCCTTTTGCAGAAACCAAACCCGCCACCCCTCCTTGAGCAGGACTGTGCACCAGGTGCAGGGGAGGCCGGGGTCATCCGAAAGCCCAGATTGCAGGAGCGTCCAGAAGGGCCCACTCTCCAAGGGGTATCCAGTAAAGCGTATCCTGTCGCCCCTGCTCCCACCCCAGCCCACTGAGGTCACCAGGTGCAGCCTTTATGATTCCACTCGGAACATCCTTCCTTCCCTCTGACCAGACCCTGGAACCAGGCCGGAAGCCCCACGCCTGGGCCTGGCTGTGTCTCTGAGTGGCAGTGGGGAGGGACCTTCACTGCACCACCCTGTCCTCCCGTGTGGCTGCGGGTGCAGAGGGAGGAGAGCCTGCCCTGGCCTGGGTGCTCAAGGGCCCCCTCTGTGACCTGCACAGGGCTGTCAACTCCCCTCATGGACGCTGGGTGGGTGGTCCTCACTCAGGTGAGCCCATCCTGGCTCTGGCCAGCTGTCGGTCAGGGTCAGGCAGGTCCCAGGCGGGAGGCTGACGTCAGCCCGCCCTGTGCCCCCCAGGTGCTGCGGATCGGCCTGCTGGGCTGCAATGCCACCCGCGAGAATGTGGACCGCGTGACGGAGGCCCTGAGGGCGGCCCTGCAGCACTGCCCCAAGAAGAAGCTGTGACCTGCCCACTGGCACACAGCTGGCACTGGCACACACCTGTCCCATGCCCACCCTGAGGGATCAGGAGCAAACAGACCCTGCAAGGTCCTCCAGGCCTGGGGACAGGAAAGCCACTGACCCAGCCCGGGAGGCAGAACCAGGCAGCCTCCCTGGCCCCAGGCAGCCCTTTTCCCTCCAGTGGCACCTCCTGGAAACAGTCCACTTGGGCGCAAAACCCAGTGCCTTCCAAATGAGCTGCAGTCCCCAGGCCATGAGCCTCCCGGGAATGTTTAATAAAGGGCCTGGCCAACTCTCCTCACTGTGTGGGGTGGTCTGTGAAAGAGTGAGAGGAGAGCATCTCTGCTCCCTGAGCTGCCTGATTGTGGACTTTAGGGGGACACTCCTCATCCTGGAGCCCACAGGGTAGATCCTCCCCTGGAGGAGGTGCTGTCACCACACTCTAGCCCCAGATGTCACACCCCCAAACGTCCTCACGCACCACATCCAGGTGAACCCACACGGCGCACAGGGCTGGTTGGAGACCCCTGTCATGGACAAGGGTACCTGCGTGCTGGAGAGCGCACAGCCAGGACCTGAGCCCATGACACGTGGAAGCCTCCAATGGAAGGTCCCCTATGCTCCCATCCAGCCAGTGCCCACCCCTCAACTGCCTGACTTCTGTGACCATAGATCAGCCTGGCATATTTGAATTTATTTATTTATTTTGAAACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTACAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGGCTCCGGATTAGCTGGGACTACAGGTGTGCACCACCATGCCCGGCTAATTTTTGTATTTTTAGTACAGATGGGGTTTCACTATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCAGCCATAGTTGAATTTCATGGTCAGTGGAACACACAGCAGGTCCTCCACTGTGCCAGCTTCTTTCACTTACTGTTTTTGACACTCACATGTACCGTCGTGGGCGCCGGTGTGTCTTTGTTGCTGAGTGCCGTCCCGTCATATGGACGTGCGTCGTGGGCGCCGGTGTGTCTTGTTGCTGAGTGCCGTCCCGTCATATGGACACCTCATGATTTGTTGGTTCATCACCATAGTTGAGCATCTGGGTTATTTCTATTTTGGGGCTGTTATGAATACGGAGGTAGTGAAATTCTTACTCAAGCCTTCGTGTGGCCATATATTTTCATTTTTCTTGGATAAATAACTAGGAGTGGAATTGCAGGGTCATA
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AGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACAGCCCTTCCCCTCCTTGCCCAGTCCCCTCCCCCTGCAAGGCACTCTCCACTCTTCTCCCCCAGGGGCCACAGGCAGACCTCCCCTCTGTCTCTCTGAACCCTCCTCTGTCTCTCCCAGACCCAGATGTTTCCTTCTGCCCTGGGGTAGTCCCAGGCCCTGCCCCAGGCAAAGTCAAACTGGGGGCTCCAGGGGCTCCCCTGCACCAAGGCCTGCAGAGTCAGGTTCTTCCTCCCGCACCACAGAGGGCGGGGCTTCCTGCCCACCCCACCCATGTCACTGCCCACCAGCGCCATCTCCCACACAGGGCCTGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCTGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGTAAGGAGGCCCCTGGCATTGGGCAGCCCTGCACCCATGGGGAAGGATGAGGGGCTCTTGCCCAGCCCCCTCAAGAGGGACACTGGCTCCTGAGAAGGAGGGGGCGGCTGCCCGGTGGTGTGGCCTCGGTGCCAGGGATTAGTCTCGGCAGGAGCCACGAAGTCACAGCTCCCGGCCTCTGATGCGGGATCTCAGGACGGCCTGTGATCTCCCAGTGGGAAGGTGCCCATCCACCGCCTCCTAAGGGGTGGGGTCCCTGCTCTCTCCCGGCCCTTTCTCCCCCGGCTCCTCTGGAACCTGAAGCTGGGGCAGATGGTGCAGGCCAAGAGCTGTCACAAAGGCCCGTACAGGGCCTCTCACCCACGCACTGAGCCAGGCCCCTCCTGCAGGCGCTCCGGCTTCCCACAGTCACCACTGTGGCTGTACCCGCTGGCTATGACTGGAGAGACATCGTCAGCTACGTCATAGACCACTTCGACATTGAGATCATGAGTGGCCTTGGGCCCTCCACGGGGAAGGTGAGAGGGAGCGCCTCGAGGGCCTTTTGCAGAAACCAAACCCGCCACCCCTCCTTGAGCAGGACTGTGCACCAGGTGCAGGGGAGGCCGGGGTCATCCGAAAGCCCAGATTGCAGGAGCGTCCAGAAGGGCCCACTCTCCAAGGGGTATCCAGTAAAGCGTATCCTGTCGCCCCTGCTCCCACCCCAGCCCACTGAGGTCACCAGGTGCAGCCTTTATGATTCCACTCGGAACATCCTTCCTTCCCTCTGACCAGACCCTGGAACCAGGCCGGAAGCCCCACGCCTGGGCCTGGCTGTGTCTCTGAGTGGCAGTGGGGAGGGACCTTCACTGCACCACCCTGTCCTCCCGTGTGGCTGCGGGTGCAGAGGGAGGAGAGCCTGCCCTGGCCTGGGTGCTCAAGGGCCCCCTCTGTGACCTGCACAGGGCTGTCAACTCCCCTCATGGACGCTGGGTGGGTGGTCCTCACTCAGGTGAGCCCATCCTGGCTCTGGCCAGCTGTCGGTCAGGGTCAGGCAGGTCCCAGGCGGGAGGCTGACGTCAGCCCGCCCTGTGCCCCCCAGGTGCTGCGGATCGGCCTGCTGGGCTGCAATGCCACCCGCGAGAATGTGGACCGCGTGACGGAGGCCCTGAGGGCGGCCCTGCAGCACTGCCCCAAGAAGAAGCTGTGACCTGCCCACTGGCACACAGCTGGCACTGGCACACACCTGTCCCATGCCCACCCTGAGGGATCAGGAGCAAACAGACCCTGCAAGGTCCTCCAGGCCTGGGGACAGGAAAGCCACTGACCCAGCCCGGGAGGCAGAACCAGGCAGCCTCCCTGGCCCCAGGCAGCCCTTTTCCCTCCAGTGGCACCTCCTGGAAACAGTCCACTTGGGCGCAAAACCCAGTGCCTTCCAAATGAGCTGCAGTCCCCAGGCCATGAGCCTCCCGGGAATGTTTAATAAAGGGCCTGGCCAACTCTCCTCACTGTGTGGGGTGGTCTGTGAAAGAGTGAGAGGAGAGCATCTCTGCTCCCTGAGCTGCCTGATTGTGGACTTTAGGGGGACACTCCTCATCCTGGAGCCCACAGGGTAGATCCTCCCCTGGAGGAGGTGCTGTCACCACACTCTAGCCCCAGATGTCACACCCCCAAACGTCCTCACGCACCACATCCAGGTGAACCCACACGGCGCACAGGGCTGGTTGGAGACCCCTGTCATGGACAAGGGTACCTGCGTGCTGGAGAGCGCACAGCCAGGACCTGAGCCCATGACACGTGGAAGCCTCCAATGGAAGGTCCCCTATGCTCCCATCCAGCCAGTGCCCACCCCTCAACTGCCTGACTTCTGTGACCATAGATCAGCCTGGCATATTTGAATTTATTTATTTATTTTGAAACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTACAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGGCTCCGGATTAGCTGGGACTACAGGTGTGCACCACCATGCCCGGCTAATTTTTGTATTTTTAGTACAGATGGGGTTTCACTATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCAGCCATAGTTGAATTTCATGGTCAGTGGAACACACAGCAGGTCCTCCACTGTGCCAGCTTCTTTCACTTACTGTTTTTGACACTCACATGTACCGTCGTGGGCGCCGGTGTGTCTTTGTTGCTGAGTGCCGTCCCGTCATATGGACGTGCGTCGTGGGCGCCGGTGTGTCTTGTTGCTGAGTGCCGTCCCGTCATATGGACACCTCATGATTTGTTGGTTCATCACCATAGTTGAGCATCTGGGTTATTTCTATTTTGGGGCTGTTATGAATACGGAGGTAGTGAAATTCTTACTCAAGCCTTCGTGTGGCCATATATTTTCATTTTTCTTGGATAAATAACTAGGAGTGGAATTGCAGGGTCATA
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Task1_train_5857
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A variant on Chromosome 2 in gene AGXT (alanine--glyoxylate aminotransferase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Primary hyperoxaluria, type I
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GGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACAGCCCTTCCCCTCCTTGCCCAGTCCCCTCCCCCTGCAAGGCACTCTCCACTCTTCTCCCCCAGGGGCCACAGGCAGACCTCCCCTCTGTCTCTCTGAACCCTCCTCTGTCTCTCCCAGACCCAGATGTTTCCTTCTGCCCTGGGGTAGTCCCAGGCCCTGCCCCAGGCAAAGTCAAACTGGGGGCTCCAGGGGCTCCCCTGCACCAAGGCCTGCAGAGTCAGGTTCTTCCTCCCGCACCACAGAGGGCGGGGCTTCCTGCCCACCCCACCCATGTCACTGCCCACCAGCGCCATCTCCCACACAGGGCCTGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCTGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGTAAGGAGGCCCCTGGCATTGGGCAGCCCTGCACCCATGGGGAAGGATGAGGGGCTCTTGCCCAGCCCCCTCAAGAGGGACACTGGCTCCTGAGAAGGAGGGGGCGGCTGCCCGGTGGTGTGGCCTCGGTGCCAGGGATTAGTCTCGGCAGGAGCCACGAAGTCACAGCTCCCGGCCTCTGATGCGGGATCTCAGGACGGCCTGTGATCTCCCAGTGGGAAGGTGCCCATCCACCGCCTCCTAAGGGGTGGGGTCCCTGCTCTCTCCCGGCCCTTTCTCCCCCGGCTCCTCTGGAACCTGAAGCTGGGGCAGATGGTGCAGGCCAAGAGCTGTCACAAAGGCCCGTACAGGGCCTCTCACCCACGCACTGAGCCAGGCCCCTCCTGCAGGCGCTCCGGCTTCCCACAGTCACCACTGTGGCTGTACCCGCTGGCTATGACTGGAGAGACATCGTCAGCTACGTCATAGACCACTTCGACATTGAGATCATGGGTGGCCTTGGGCCCTCCACGGGGAAGGTGAGAGGGAGCGCCTCGAGGGCCTTTTGCAGAAACCAAACCCGCCACCCCTCCTTGAGCAGGACTGTGCACCAGGTGCAGGGGAGGCCGGGGTCATCCGAAAGCCCAGATTGCAGGAGCGTCCAGAAGGGCCCACTCTCCAAGGGGTATCCAGTAAAGCGTATCCTGTCGCCCCTGCTCCCACCCCAGCCCACTGAGGTCACCAGGTGCAGCCTTTATGATTCCACTCGGAACATCCTTCCTTCCCTCTGACCAGACCCTGGAACCAGGCCGGAAGCCCCACGCCTGGGCCTGGCTGTGTCTCTGAGTGGCAGTGGGGAGGGACCTTCACTGCACCACCCTGTCCTCCCGTGTGGCTGCGGGTGCAGAGGGAGGAGAGCCTGCCCTGGCCTGGGTGCTCAAGGGCCCCCTCTGTGACCTGCACAGGGCTGTCAACTCCCCTCATGGACGCTGGGTGGGTGGTCCTCACTCAGGTGAGCCCATCCTGGCTCTGGCCAGCTGTCGGTCAGGGTCAGGCAGGTCCCAGGCGGGAGGCTGACGTCAGCCCGCCCTGTGCCCCCCAGGTGCTGCGGATCGGCCTGCTGGGCTGCAATGCCACCCGCGAGAATGTGGACCGCGTGACGGAGGCCCTGAGGGCGGCCCTGCAGCACTGCCCCAAGAAGAAGCTGTGACCTGCCCACTGGCACACAGCTGGCACTGGCACACACCTGTCCCATGCCCACCCTGAGGGATCAGGAGCAAACAGACCCTGCAAGGTCCTCCAGGCCTGGGGACAGGAAAGCCACTGACCCAGCCCGGGAGGCAGAACCAGGCAGCCTCCCTGGCCCCAGGCAGCCCTTTTCCCTCCAGTGGCACCTCCTGGAAACAGTCCACTTGGGCGCAAAACCCAGTGCCTTCCAAATGAGCTGCAGTCCCCAGGCCATGAGCCTCCCGGGAATGTTTAATAAAGGGCCTGGCCAACTCTCCTCACTGTGTGGGGTGGTCTGTGAAAGAGTGAGAGGAGAGCATCTCTGCTCCCTGAGCTGCCTGATTGTGGACTTTAGGGGGACACTCCTCATCCTGGAGCCCACAGGGTAGATCCTCCCCTGGAGGAGGTGCTGTCACCACACTCTAGCCCCAGATGTCACACCCCCAAACGTCCTCACGCACCACATCCAGGTGAACCCACACGGCGCACAGGGCTGGTTGGAGACCCCTGTCATGGACAAGGGTACCTGCGTGCTGGAGAGCGCACAGCCAGGACCTGAGCCCATGACACGTGGAAGCCTCCAATGGAAGGTCCCCTATGCTCCCATCCAGCCAGTGCCCACCCCTCAACTGCCTGACTTCTGTGACCATAGATCAGCCTGGCATATTTGAATTTATTTATTTATTTTGAAACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTACAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGGCTCCGGATTAGCTGGGACTACAGGTGTGCACCACCATGCCCGGCTAATTTTTGTATTTTTAGTACAGATGGGGTTTCACTATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCAGCCATAGTTGAATTTCATGGTCAGTGGAACACACAGCAGGTCCTCCACTGTGCCAGCTTCTTTCACTTACTGTTTTTGACACTCACATGTACCGTCGTGGGCGCCGGTGTGTCTTTGTTGCTGAGTGCCGTCCCGTCATATGGACGTGCGTCGTGGGCGCCGGTGTGTCTTGTTGCTGAGTGCCGTCCCGTCATATGGACACCTCATGATTTGTTGGTTCATCACCATAGTTGAGCATCTGGGTTATTTCTATTTTGGGGCTGTTATGAATACGGAGGTAGTGAAATTCTTACTCAAGCCTTCGTGTGGCCATATATTTTCATTTTTCTTGGATAAATAACTAGGAGTGGAATTGCAGGGTCATACAATAGGCTTAACCTTATACGAGACTGCCACGAAATTCTCCGAAGTGGCTCTTCCATGTTTCATTCCCGCAGCTACAGCGTCCAGGGTGCTCCACGTCCTCACCCACACTCCATGTTGTCTTTTTTTGCTAGGGGGTGTAAAATCCTGTCTGATTTGGTTTTAGTTTGCATTTCCCTGATGCCTATTGATGTTGAGCAACTTCTCATGAGCTATCGGCCGTTTGTAGATCTTCTGAAAAGTGTCAGTTCAAATATTTTGTTCATATTTGGATTTTTATCTTCTTATTGTCAATGTGTGATCATTTTAAAATATATTCTAGATACTATCAGATACGTGTGGCATGAATATTTCCTCCCTCTCTGTGGCTTACCTGTTCATTTTCTTTTCTTTTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGAAAGAATCTCACTCCGTCCAGGCTGGAGAGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCGGCTAATTTTTGTGTTTTTTTGTAGAGACGGGGTTTTGCCATGTTGGCCAGG
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GGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACAGCCCTTCCCCTCCTTGCCCAGTCCCCTCCCCCTGCAAGGCACTCTCCACTCTTCTCCCCCAGGGGCCACAGGCAGACCTCCCCTCTGTCTCTCTGAACCCTCCTCTGTCTCTCCCAGACCCAGATGTTTCCTTCTGCCCTGGGGTAGTCCCAGGCCCTGCCCCAGGCAAAGTCAAACTGGGGGCTCCAGGGGCTCCCCTGCACCAAGGCCTGCAGAGTCAGGTTCTTCCTCCCGCACCACAGAGGGCGGGGCTTCCTGCCCACCCCACCCATGTCACTGCCCACCAGCGCCATCTCCCACACAGGGCCTGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCTGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGTAAGGAGGCCCCTGGCATTGGGCAGCCCTGCACCCATGGGGAAGGATGAGGGGCTCTTGCCCAGCCCCCTCAAGAGGGACACTGGCTCCTGAGAAGGAGGGGGCGGCTGCCCGGTGGTGTGGCCTCGGTGCCAGGGATTAGTCTCGGCAGGAGCCACGAAGTCACAGCTCCCGGCCTCTGATGCGGGATCTCAGGACGGCCTGTGATCTCCCAGTGGGAAGGTGCCCATCCACCGCCTCCTAAGGGGTGGGGTCCCTGCTCTCTCCCGGCCCTTTCTCCCCCGGCTCCTCTGGAACCTGAAGCTGGGGCAGATGGTGCAGGCCAAGAGCTGTCACAAAGGCCCGTACAGGGCCTCTCACCCACGCACTGAGCCAGGCCCCTCCTGCAGGCGCTCCGGCTTCCCACAGTCACCACTGTGGCTGTACCCGCTGGCTATGACTGGAGAGACATCGTCAGCTACGTCATAGACCACTTCGACATTGAGATCATGGGTGGCCTTGGGCCCTCCACGGGGAAGGTGAGAGGGAGCGCCTCGAGGGCCTTTTGCAGAAACCAAACCCGCCACCCCTCCTTGAGCAGGACTGTGCACCAGGTGCAGGGGAGGCCGGGGTCATCCGAAAGCCCAGATTGCAGGAGCGTCCAGAAGGGCCCACTCTCCAAGGGGTATCCAGTAAAGCGTATCCTGTCGCCCCTGCTCCCACCCCAGCCCACTGAGGTCACCAGGTGCAGCCTTTATGATTCCACTCGGAACATCCTTCCTTCCCTCTGACCAGACCCTGGAACCAGGCCGGAAGCCCCACGCCTGGGCCTGGCTGTGTCTCTGAGTGGCAGTGGGGAGGGACCTTCACTGCACCACCCTGTCCTCCCGTGTGGCTGCGGGTGCAGAGGGAGGAGAGCCTGCCCTGGCCTGGGTGCTCAAGGGCCCCCTCTGTGACCTGCACAGGGCTGTCAACTCCCCTCATGGACGCTGGGTGGGTGGTCCTCACTCAGGTGAGCCCATCCTGGCTCTGGCCAGCTGTCGGTCAGGGTCAGGCAGGTCCCAGGCGGGAGGCTGACGTCAGCCCGCCCTGTGCCCCCCAGGTGCTGCGGATCGGCCTGCTGGGCTGCAATACCACCCGCGAGAATGTGGACCGCGTGACGGAGGCCCTGAGGGCGGCCCTGCAGCACTGCCCCAAGAAGAAGCTGTGACCTGCCCACTGGCACACAGCTGGCACTGGCACACACCTGTCCCATGCCCACCCTGAGGGATCAGGAGCAAACAGACCCTGCAAGGTCCTCCAGGCCTGGGGACAGGAAAGCCACTGACCCAGCCCGGGAGGCAGAACCAGGCAGCCTCCCTGGCCCCAGGCAGCCCTTTTCCCTCCAGTGGCACCTCCTGGAAACAGTCCACTTGGGCGCAAAACCCAGTGCCTTCCAAATGAGCTGCAGTCCCCAGGCCATGAGCCTCCCGGGAATGTTTAATAAAGGGCCTGGCCAACTCTCCTCACTGTGTGGGGTGGTCTGTGAAAGAGTGAGAGGAGAGCATCTCTGCTCCCTGAGCTGCCTGATTGTGGACTTTAGGGGGACACTCCTCATCCTGGAGCCCACAGGGTAGATCCTCCCCTGGAGGAGGTGCTGTCACCACACTCTAGCCCCAGATGTCACACCCCCAAACGTCCTCACGCACCACATCCAGGTGAACCCACACGGCGCACAGGGCTGGTTGGAGACCCCTGTCATGGACAAGGGTACCTGCGTGCTGGAGAGCGCACAGCCAGGACCTGAGCCCATGACACGTGGAAGCCTCCAATGGAAGGTCCCCTATGCTCCCATCCAGCCAGTGCCCACCCCTCAACTGCCTGACTTCTGTGACCATAGATCAGCCTGGCATATTTGAATTTATTTATTTATTTTGAAACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTACAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGGCTCCGGATTAGCTGGGACTACAGGTGTGCACCACCATGCCCGGCTAATTTTTGTATTTTTAGTACAGATGGGGTTTCACTATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCAGCCATAGTTGAATTTCATGGTCAGTGGAACACACAGCAGGTCCTCCACTGTGCCAGCTTCTTTCACTTACTGTTTTTGACACTCACATGTACCGTCGTGGGCGCCGGTGTGTCTTTGTTGCTGAGTGCCGTCCCGTCATATGGACGTGCGTCGTGGGCGCCGGTGTGTCTTGTTGCTGAGTGCCGTCCCGTCATATGGACACCTCATGATTTGTTGGTTCATCACCATAGTTGAGCATCTGGGTTATTTCTATTTTGGGGCTGTTATGAATACGGAGGTAGTGAAATTCTTACTCAAGCCTTCGTGTGGCCATATATTTTCATTTTTCTTGGATAAATAACTAGGAGTGGAATTGCAGGGTCATACAATAGGCTTAACCTTATACGAGACTGCCACGAAATTCTCCGAAGTGGCTCTTCCATGTTTCATTCCCGCAGCTACAGCGTCCAGGGTGCTCCACGTCCTCACCCACACTCCATGTTGTCTTTTTTTGCTAGGGGGTGTAAAATCCTGTCTGATTTGGTTTTAGTTTGCATTTCCCTGATGCCTATTGATGTTGAGCAACTTCTCATGAGCTATCGGCCGTTTGTAGATCTTCTGAAAAGTGTCAGTTCAAATATTTTGTTCATATTTGGATTTTTATCTTCTTATTGTCAATGTGTGATCATTTTAAAATATATTCTAGATACTATCAGATACGTGTGGCATGAATATTTCCTCCCTCTCTGTGGCTTACCTGTTCATTTTCTTTTCTTTTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGAAAGAATCTCACTCCGTCCAGGCTGGAGAGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCGGCTAATTTTTGTGTTTTTTTGTAGAGACGGGGTTTTGCCATGTTGGCCAGG
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Task1_train_5858
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A variant was discovered on Chromosome 2, affecting AGXT (alanine--glyoxylate aminotransferase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Primary hyperoxaluria, type I
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GCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACAGCCCTTCCCCTCCTTGCCCAGTCCCCTCCCCCTGCAAGGCACTCTCCACTCTTCTCCCCCAGGGGCCACAGGCAGACCTCCCCTCTGTCTCTCTGAACCCTCCTCTGTCTCTCCCAGACCCAGATGTTTCCTTCTGCCCTGGGGTAGTCCCAGGCCCTGCCCCAGGCAAAGTCAAACTGGGGGCTCCAGGGGCTCCCCTGCACCAAGGCCTGCAGAGTCAGGTTCTTCCTCCCGCACCACAGAGGGCGGGGCTTCCTGCCCACCCCACCCATGTCACTGCCCACCAGCGCCATCTCCCACACAGGGCCTGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCTGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGTAAGGAGGCCCCTGGCATTGGGCAGCCCTGCACCCATGGGGAAGGATGAGGGGCTCTTGCCCAGCCCCCTCAAGAGGGACACTGGCTCCTGAGAAGGAGGGGGCGGCTGCCCGGTGGTGTGGCCTCGGTGCCAGGGATTAGTCTCGGCAGGAGCCACGAAGTCACAGCTCCCGGCCTCTGATGCGGGATCTCAGGACGGCCTGTGATCTCCCAGTGGGAAGGTGCCCATCCACCGCCTCCTAAGGGGTGGGGTCCCTGCTCTCTCCCGGCCCTTTCTCCCCCGGCTCCTCTGGAACCTGAAGCTGGGGCAGATGGTGCAGGCCAAGAGCTGTCACAAAGGCCCGTACAGGGCCTCTCACCCACGCACTGAGCCAGGCCCCTCCTGCAGGCGCTCCGGCTTCCCACAGTCACCACTGTGGCTGTACCCGCTGGCTATGACTGGAGAGACATCGTCAGCTACGTCATAGACCACTTCGACATTGAGATCATGGGTGGCCTTGGGCCCTCCACGGGGAAGGTGAGAGGGAGCGCCTCGAGGGCCTTTTGCAGAAACCAAACCCGCCACCCCTCCTTGAGCAGGACTGTGCACCAGGTGCAGGGGAGGCCGGGGTCATCCGAAAGCCCAGATTGCAGGAGCGTCCAGAAGGGCCCACTCTCCAAGGGGTATCCAGTAAAGCGTATCCTGTCGCCCCTGCTCCCACCCCAGCCCACTGAGGTCACCAGGTGCAGCCTTTATGATTCCACTCGGAACATCCTTCCTTCCCTCTGACCAGACCCTGGAACCAGGCCGGAAGCCCCACGCCTGGGCCTGGCTGTGTCTCTGAGTGGCAGTGGGGAGGGACCTTCACTGCACCACCCTGTCCTCCCGTGTGGCTGCGGGTGCAGAGGGAGGAGAGCCTGCCCTGGCCTGGGTGCTCAAGGGCCCCCTCTGTGACCTGCACAGGGCTGTCAACTCCCCTCATGGACGCTGGGTGGGTGGTCCTCACTCAGGTGAGCCCATCCTGGCTCTGGCCAGCTGTCGGTCAGGGTCAGGCAGGTCCCAGGCGGGAGGCTGACGTCAGCCCGCCCTGTGCCCCCCAGGTGCTGCGGATCGGCCTGCTGGGCTGCAATGCCACCCGCGAGAATGTGGACCGCGTGACGGAGGCCCTGAGGGCGGCCCTGCAGCACTGCCCCAAGAAGAAGCTGTGACCTGCCCACTGGCACACAGCTGGCACTGGCACACACCTGTCCCATGCCCACCCTGAGGGATCAGGAGCAAACAGACCCTGCAAGGTCCTCCAGGCCTGGGGACAGGAAAGCCACTGACCCAGCCCGGGAGGCAGAACCAGGCAGCCTCCCTGGCCCCAGGCAGCCCTTTTCCCTCCAGTGGCACCTCCTGGAAACAGTCCACTTGGGCGCAAAACCCAGTGCCTTCCAAATGAGCTGCAGTCCCCAGGCCATGAGCCTCCCGGGAATGTTTAATAAAGGGCCTGGCCAACTCTCCTCACTGTGTGGGGTGGTCTGTGAAAGAGTGAGAGGAGAGCATCTCTGCTCCCTGAGCTGCCTGATTGTGGACTTTAGGGGGACACTCCTCATCCTGGAGCCCACAGGGTAGATCCTCCCCTGGAGGAGGTGCTGTCACCACACTCTAGCCCCAGATGTCACACCCCCAAACGTCCTCACGCACCACATCCAGGTGAACCCACACGGCGCACAGGGCTGGTTGGAGACCCCTGTCATGGACAAGGGTACCTGCGTGCTGGAGAGCGCACAGCCAGGACCTGAGCCCATGACACGTGGAAGCCTCCAATGGAAGGTCCCCTATGCTCCCATCCAGCCAGTGCCCACCCCTCAACTGCCTGACTTCTGTGACCATAGATCAGCCTGGCATATTTGAATTTATTTATTTATTTTGAAACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTACAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGGCTCCGGATTAGCTGGGACTACAGGTGTGCACCACCATGCCCGGCTAATTTTTGTATTTTTAGTACAGATGGGGTTTCACTATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCAGCCATAGTTGAATTTCATGGTCAGTGGAACACACAGCAGGTCCTCCACTGTGCCAGCTTCTTTCACTTACTGTTTTTGACACTCACATGTACCGTCGTGGGCGCCGGTGTGTCTTTGTTGCTGAGTGCCGTCCCGTCATATGGACGTGCGTCGTGGGCGCCGGTGTGTCTTGTTGCTGAGTGCCGTCCCGTCATATGGACACCTCATGATTTGTTGGTTCATCACCATAGTTGAGCATCTGGGTTATTTCTATTTTGGGGCTGTTATGAATACGGAGGTAGTGAAATTCTTACTCAAGCCTTCGTGTGGCCATATATTTTCATTTTTCTTGGATAAATAACTAGGAGTGGAATTGCAGGGTCATACAATAGGCTTAACCTTATACGAGACTGCCACGAAATTCTCCGAAGTGGCTCTTCCATGTTTCATTCCCGCAGCTACAGCGTCCAGGGTGCTCCACGTCCTCACCCACACTCCATGTTGTCTTTTTTTGCTAGGGGGTGTAAAATCCTGTCTGATTTGGTTTTAGTTTGCATTTCCCTGATGCCTATTGATGTTGAGCAACTTCTCATGAGCTATCGGCCGTTTGTAGATCTTCTGAAAAGTGTCAGTTCAAATATTTTGTTCATATTTGGATTTTTATCTTCTTATTGTCAATGTGTGATCATTTTAAAATATATTCTAGATACTATCAGATACGTGTGGCATGAATATTTCCTCCCTCTCTGTGGCTTACCTGTTCATTTTCTTTTCTTTTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGAAAGAATCTCACTCCGTCCAGGCTGGAGAGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCGGCTAATTTTTGTGTTTTTTTGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAATTCCTGACCTCAAGTGATCCACCCACCTCAGCCTC
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GCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACAGCCCTTCCCCTCCTTGCCCAGTCCCCTCCCCCTGCAAGGCACTCTCCACTCTTCTCCCCCAGGGGCCACAGGCAGACCTCCCCTCTGTCTCTCTGAACCCTCCTCTGTCTCTCCCAGACCCAGATGTTTCCTTCTGCCCTGGGGTAGTCCCAGGCCCTGCCCCAGGCAAAGTCAAACTGGGGGCTCCAGGGGCTCCCCTGCACCAAGGCCTGCAGAGTCAGGTTCTTCCTCCCGCACCACAGAGGGCGGGGCTTCCTGCCCACCCCACCCATGTCACTGCCCACCAGCGCCATCTCCCACACAGGGCCTGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCTGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGTAAGGAGGCCCCTGGCATTGGGCAGCCCTGCACCCATGGGGAAGGATGAGGGGCTCTTGCCCAGCCCCCTCAAGAGGGACACTGGCTCCTGAGAAGGAGGGGGCGGCTGCCCGGTGGTGTGGCCTCGGTGCCAGGGATTAGTCTCGGCAGGAGCCACGAAGTCACAGCTCCCGGCCTCTGATGCGGGATCTCAGGACGGCCTGTGATCTCCCAGTGGGAAGGTGCCCATCCACCGCCTCCTAAGGGGTGGGGTCCCTGCTCTCTCCCGGCCCTTTCTCCCCCGGCTCCTCTGGAACCTGAAGCTGGGGCAGATGGTGCAGGCCAAGAGCTGTCACAAAGGCCCGTACAGGGCCTCTCACCCACGCACTGAGCCAGGCCCCTCCTGCAGGCGCTCCGGCTTCCCACAGTCACCACTGTGGCTGTACCCGCTGGCTATGACTGGAGAGACATCGTCAGCTACGTCATAGACCACTTCGACATTGAGATCATGGGTGGCCTTGGGCCCTCCACGGGGAAGGTGAGAGGGAGCGCCTCGAGGGCCTTTTGCAGAAACCAAACCCGCCACCCCTCCTTGAGCAGGACTGTGCACCAGGTGCAGGGGAGGCCGGGGTCATCCGAAAGCCCAGATTGCAGGAGCGTCCAGAAGGGCCCACTCTCCAAGGGGTATCCAGTAAAGCGTATCCTGTCGCCCCTGCTCCCACCCCAGCCCACTGAGGTCACCAGGTGCAGCCTTTATGATTCCACTCGGAACATCCTTCCTTCCCTCTGACCAGACCCTGGAACCAGGCCGGAAGCCCCACGCCTGGGCCTGGCTGTGTCTCTGAGTGGCAGTGGGGAGGGACCTTCACTGCACCACCCTGTCCTCCCGTGTGGCTGCGGGTGCAGAGGGAGGAGAGCCTGCCCTGGCCTGGGTGCTCAAGGGCCCCCTCTGTGACCTGCACAGGGCTGTCAACTCCCCTCATGGACGCTGGGTGGGTGGTCCTCACTCAGGTGAGCCCATCCTGGCTCTGGCCAGCTGTCGGTCAGGGTCAGGCAGGTCCCAGGCGGGAGGCTGACGTCAGCCCGCCCTGTGCCCCCCAGGTGCTGCGGATCGGCCTGCTGGGCTGCAATGCCACCCGCGAGAATGTGGACCGCGTGACGGAGGCCCTGAGGGCGGACCTGCAGCACTGCCCCAAGAAGAAGCTGTGACCTGCCCACTGGCACACAGCTGGCACTGGCACACACCTGTCCCATGCCCACCCTGAGGGATCAGGAGCAAACAGACCCTGCAAGGTCCTCCAGGCCTGGGGACAGGAAAGCCACTGACCCAGCCCGGGAGGCAGAACCAGGCAGCCTCCCTGGCCCCAGGCAGCCCTTTTCCCTCCAGTGGCACCTCCTGGAAACAGTCCACTTGGGCGCAAAACCCAGTGCCTTCCAAATGAGCTGCAGTCCCCAGGCCATGAGCCTCCCGGGAATGTTTAATAAAGGGCCTGGCCAACTCTCCTCACTGTGTGGGGTGGTCTGTGAAAGAGTGAGAGGAGAGCATCTCTGCTCCCTGAGCTGCCTGATTGTGGACTTTAGGGGGACACTCCTCATCCTGGAGCCCACAGGGTAGATCCTCCCCTGGAGGAGGTGCTGTCACCACACTCTAGCCCCAGATGTCACACCCCCAAACGTCCTCACGCACCACATCCAGGTGAACCCACACGGCGCACAGGGCTGGTTGGAGACCCCTGTCATGGACAAGGGTACCTGCGTGCTGGAGAGCGCACAGCCAGGACCTGAGCCCATGACACGTGGAAGCCTCCAATGGAAGGTCCCCTATGCTCCCATCCAGCCAGTGCCCACCCCTCAACTGCCTGACTTCTGTGACCATAGATCAGCCTGGCATATTTGAATTTATTTATTTATTTTGAAACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTACAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGGCTCCGGATTAGCTGGGACTACAGGTGTGCACCACCATGCCCGGCTAATTTTTGTATTTTTAGTACAGATGGGGTTTCACTATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCAGCCATAGTTGAATTTCATGGTCAGTGGAACACACAGCAGGTCCTCCACTGTGCCAGCTTCTTTCACTTACTGTTTTTGACACTCACATGTACCGTCGTGGGCGCCGGTGTGTCTTTGTTGCTGAGTGCCGTCCCGTCATATGGACGTGCGTCGTGGGCGCCGGTGTGTCTTGTTGCTGAGTGCCGTCCCGTCATATGGACACCTCATGATTTGTTGGTTCATCACCATAGTTGAGCATCTGGGTTATTTCTATTTTGGGGCTGTTATGAATACGGAGGTAGTGAAATTCTTACTCAAGCCTTCGTGTGGCCATATATTTTCATTTTTCTTGGATAAATAACTAGGAGTGGAATTGCAGGGTCATACAATAGGCTTAACCTTATACGAGACTGCCACGAAATTCTCCGAAGTGGCTCTTCCATGTTTCATTCCCGCAGCTACAGCGTCCAGGGTGCTCCACGTCCTCACCCACACTCCATGTTGTCTTTTTTTGCTAGGGGGTGTAAAATCCTGTCTGATTTGGTTTTAGTTTGCATTTCCCTGATGCCTATTGATGTTGAGCAACTTCTCATGAGCTATCGGCCGTTTGTAGATCTTCTGAAAAGTGTCAGTTCAAATATTTTGTTCATATTTGGATTTTTATCTTCTTATTGTCAATGTGTGATCATTTTAAAATATATTCTAGATACTATCAGATACGTGTGGCATGAATATTTCCTCCCTCTCTGTGGCTTACCTGTTCATTTTCTTTTCTTTTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGAAAGAATCTCACTCCGTCCAGGCTGGAGAGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCGGCTAATTTTTGTGTTTTTTTGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAATTCCTGACCTCAAGTGATCCACCCACCTCAGCCTC
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Task1_train_5859
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The following genetic variant occurs in DTYMK (deoxythymidylate kinase) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Neurodegeneration, childhood-onset, with progressive microcephaly
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ACACTGTGGTGACCTCCGGGATACCCCACACCTTTCTCTGAACCTCAACCTTGACAAGTGTCTACGGTAGTCACCCGGCATTCCTGCCACAGCCCTGATGCAGGAGAAACATGATGTGCCAACTGCCCACTCCTGCTTTAAGCCGACCTCAGCCTCGTGACCCCAACCCCGCTGAGTGCCCACTTGCAGGAGTGAGGCACAGCCCACAGCACAGCCAGACCCACCCAGCCCACCAGGTCGAGGTGACTGTCCCTCCAGCTCGCAAGCGGCGAGTCGGAAGCACAGAGGGCAGACCCTGCCCTGCCCACGCTCCTGTGGCTCCTGGGCCCTGCCTGGAAGGTGAGGAAGTTCCGCAGCAGAAGCCAGACAGCAGGACCAGTGCAACACTGGGCCTGACTCGTCCTTGCGGGGAAGATGAATTTGGTCCTAACAGCTGTGCTGCACAATGGCGTGAACGGTGCGAGGAGCGTGGGGAGGGCATAAGCCCGCAGGACAGCCTTCTCTCCACCAGAAGGCAGGCAGTGAGAGGGACTCAGAAGCGCTGGCATCTCAGCGGCATCCCGGCTTCTGCTGTCGGGTGGCACCGGACCCTTCTCAAGCTTCTGGGACAGCAAATTCTAGAAAATCTGCCAGGGGCGTAGAAGGCACTTGGAAGAATCTAACCATTTCATGAGGTGTGACCGTGACGGAAGGAGAGTGACTCCCTACACAAGGGCCACCTTCCCAGATGCCTCTCACTGGCCACTGTGCAGCCACACAGCTGTCGCCCAGAACCGCCCAAGATGAGCCTCTCCGGGCGGAATGACTGCCAGAGAGAATGCCGCACTGCCAGAAAAGGGCACTGCTATCCCACCTGCGTTCCGGGAAACGAAAAGCTGCGTGACCAGCATCATCTGCAGGCACAGCCAGTCGGGCTGGGGCGAGACCCTCGGCCCTGCTCTGGAGGAGGAGCTCAAGGGACTGAAGCTCCGCGGGCCGTGGCCACAAGCGACAGTGCTGGCGCCCGACGTGCCAGAAGCCCTGGCTGCCGCCTGGAAAGAGGCCACGTGGGCAGCGGTGGGCACGGGCGACTGGAGTCTGGGAGAGAGGTAGGGGCTGCGGTCGGGAGGAGCAGAGGCGGCCAGCCTGCGAGTCCACTGGGAGGGGAGAGTCCAGCGTCCTGGGAGCAGAGCCAGACCTGGGACTGCTGAGATTGAAGGAGGCAGGACTGAAGGGAGAGGCAGCACACAGCACCCTCCTGAACTTAGATGGCCAGGTGCTGCTGCAGGGCCCATGCCCAGCGAGAGGCCGCACCAGAGGACACAGTGGCAGGAACAGGCTGGCGCTCGTGTCTGAAGAGGGGCTGAGGATGTGGAGGATTGCGCAGACTCTCACCTGACCCACCAGACAAAGCGCCAAATGTCAACATTTAGCAAAACTCATCGGGTTAGAATTTGCTGGCACTGGCCGGGCGCGATGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTGGAGACCAGCCTGACCAACGTGGAGAAACCCCATCTCTACAAAAAAAATTAGCCAGGCATGATGGCACGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAAGAAGCGGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTTGGCACCCAGAGCAAGATTCTGTCTCAAAAAAAAAAGAATTTGCTGGCACCGAGAACCCCTGAACGACTACTCCCGGGGCTCCACATCTGGGAGGACCAGACGGAAACGGCAGCAGCTTTGCTGACACAACTGTGCCAGCCACCACGGTGTCATCCTGAGCCACTTCTCCACGCTTCCTAGTGTGCAATTCTGGGATTCTCACCTTCCAGTTCAAAGTCGTGTCTTTCATGAGCTGGTGGAAACACCGGAGCGCCCGCTCCTGGAAAGCCCCGTTCTCATAGCGCTCATGGCCAAACGCTCCCCGCTTGGCAGCATCCGCCAGCTGTAACTGGAGGAACAGGACCAGGTCGGGTTTGGGAAGGCCCACGTCTGGCTGTTTACACCAATCTAGGGAAAAATTCTGCCAAGAAAGAACCCAACAGTTAAAGCTTAGTGTAGTCTAGGTTTTTGTTTCGAAAGTCGTAAAAACAGGAAAAAATGAGGGGACATTTGGTGAGGTACCAAGATGTGAGACTGTTTATATTGTGGCTCGTTTAATTTTTAGAACCTCAAACGTGTCGGTTTCTCCAGTGTCACCTTTGTTTTTCCTTTGTAAACAGACAAGTGGACAGAAAAGTAGGTAGATAGAACGGCTGCCAGTCCCCGCCACCCACAGCCCAGGCCCCATGGAGGCCCTCCCAGCACAGCTACAGGCCTGCTGGCCAGGAGCAAACAGTCTATGTACAGAACCCCTGGAGACCCCCGGCCTAGAACGCCTGCAGCACAGAGCAGCTGGGTCCGGACACAGGCACGAGGTCCTTGGCAGTGTCTTTTCTGCCACACACACGCCAGGGTCTCCTCTCCCGTGGAAGAGCAGGAAGAAGACAGGCACTCCTAGAGCCTGTTATGTGCCAGCCTAGTCTCATCCACTGGCCCTTCTTGCCAGGGCTGTGCCAGCACCCTCTCTCCCTCCCTTACTCATCCCATCTCCCTCCAAATGCTGTCCTGTTTCCGGAGGAAAGGTAGGACCAGAAAGGCTGTGACTGCAGGCCACACATCACACAACAGCACAATGAGCTGAGGGAAGGCGTCCACGAGAACCTCCCACAGAGCCTGCGGCTCTGTCAGCTGATCCGCACAGCAGGAAGAAGCAAAGGAATCATGAGTCTTGTCCTCCTTATTATACAACGTAATACTTCAGAGGGGAAGGACTCAAGCTAACACATGAAGAAATGGCAGAATTAAAAAGTGAGGGCGTGGCCGGGCACGGTGGCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCGGGAGGATCACTTGGGCCCAAGAGTTGTTATAGCGAGCTTTGCTTGTTCCACTGTACTCCAGCCTGGGCAACAGAGGGAGACGCCCTCTTTCAAAAAACGGGGGAAAAAAGTACTACAAATGAACCATCTTTGAAAATGCATCTGGAGGCTGGGTGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGATGAGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAGTATGAAAATTAGCTGGGCACGGTGGTGCATGCCTATAATCCCAGATACTCGGGAGACTGAGGCAGGATAATCGCTTGAACTCAGGAGGCAGAGGTTGCAATGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAATGAGAGACTGTCTCCCCAAAAAAAAAAAAAAAAGCGTGTGGAAAATATAATCCAAATACCAACTATGGTTCTATCTGTGAAACAATCTCTAGCTACATAAATGTTTGCTCTTCTTATTGATAAAACCAAATTAATCTAGCAAAGAGATAAAAGGAATATAAGAATCACGAAACTCTGCAGAGTAATCTGAGGCATGTCACTCGTACTCGCATTCAAGGGCAGTCCTGGGTCCACACATCTGTGCTCGCCTGACAGGAGGCCAAGTGGCACTCACCTCCTTGGCACCGGTGAAGGCCACACCAGAAAATGCGTATCTGTCCACGACGAGGGTCACGCCCTGGCTCAACTTTTCCTTAATTAACGGCCTGAAAAAGAGGATGCTCCTGAGCCCTGGTCCTGTTTCATAGGCCTTGAACTGTCAAGCTTAAATTATCCCAACAGGCTGTGCGCAGTGGCTCACCCCTATAATCCCAGCGCTTTGGGAGGCTGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAATACAAAATATTAGCTGGACATGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCATTCCAGC
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ACACTGTGGTGACCTCCGGGATACCCCACACCTTTCTCTGAACCTCAACCTTGACAAGTGTCTACGGTAGTCACCCGGCATTCCTGCCACAGCCCTGATGCAGGAGAAACATGATGTGCCAACTGCCCACTCCTGCTTTAAGCCGACCTCAGCCTCGTGACCCCAACCCCGCTGAGTGCCCACTTGCAGGAGTGAGGCACAGCCCACAGCACAGCCAGACCCACCCAGCCCACCAGGTCGAGGTGACTGTCCCTCCAGCTCGCAAGCGGCGAGTCGGAAGCACAGAGGGCAGACCCTGCCCTGCCCACGCTCCTGTGGCTCCTGGGCCCTGCCTGGAAGGTGAGGAAGTTCCGCAGCAGAAGCCAGACAGCAGGACCAGTGCAACACTGGGCCTGACTCGTCCTTGCGGGGAAGATGAATTTGGTCCTAACAGCTGTGCTGCACAATGGCGTGAACGGTGCGAGGAGCGTGGGGAGGGCATAAGCCCGCAGGACAGCCTTCTCTCCACCAGAAGGCAGGCAGTGAGAGGGACTCAGAAGCGCTGGCATCTCAGCGGCATCCCGGCTTCTGCTGTCGGGTGGCACCGGACCCTTCTCAAGCTTCTGGGACAGCAAATTCTAGAAAATCTGCCAGGGGCGTAGAAGGCACTTGGAAGAATCTAACCATTTCATGAGGTGTGACCGTGACGGAAGGAGAGTGACTCCCTACACAAGGGCCACCTTCCCAGATGCCTCTCACTGGCCACTGTGCAGCCACACAGCTGTCGCCCAGAACCGCCCAAGATGAGCCTCTCCGGGCGGAATGACTGCCAGAGAGAATGCCGCACTGCCAGAAAAGGGCACTGCTATCCCACCTGCGTTCCGGGAAACGAAAAGCTGCGTGACCAGCATCATCTGCAGGCACAGCCAGTCGGGCTGGGGCGAGACCCTCGGCCCTGCTCTGGAGGAGGAGCTCAAGGGACTGAAGCTCCGCGGGCCGTGGCCACAAGCGACAGTGCTGGCGCCCGACGTGCCAGAAGCCCTGGCTGCCGCCTGGAAAGAGGCCACGTGGGCAGCGGTGGGCACGGGCGACTGGAGTCTGGGAGAGAGGTAGGGGCTGCGGTCGGGAGGAGCAGAGGCGGCCAGCCTGCGAGTCCACTGGGAGGGGAGAGTCCAGCGTCCTGGGAGCAGAGCCAGACCTGGGACTGCTGAGATTGAAGGAGGCAGGACTGAAGGGAGAGGCAGCACACAGCACCCTCCTGAACTTAGATGGCCAGGTGCTGCTGCAGGGCCCATGCCCAGCGAGAGGCCGCACCAGAGGACACAGTGGCAGGAACAGGCTGGCGCTCGTGTCTGAAGAGGGGCTGAGGATGTGGAGGATTGCGCAGACTCTCACCTGACCCACCAGACAAAGCGCCAAATGTCAACATTTAGCAAAACTCATCGGGTTAGAATTTGCTGGCACTGGCCGGGCGCGATGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTGGAGACCAGCCTGACCAACGTGGAGAAACCCCATCTCTACAAAAAAAATTAGCCAGGCATGATGGCACGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAAGAAGCGGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTTGGCACCCAGAGCAAGATTCTGTCTCAAAAAAAAAAGAATTTGCTGGCACCGAGAACCCCTGAACGACTACTCCCGGGGCTCCACATCTGGGAGGACCAGACGGAAACGGCAGCAGCTTTGCTGACACAACTGTGCCAGCCACCACGGTGTCATCCTGAGCCACTTCTCCACGCTTCCTAGTGTGCAATTCTGGGATTCTCACCTTCCAGTTCAAAGTCGTGTCTTTCATGAGCTGGTGGAAACACCGGAGCGCCCGCTCCTGGAAAGCCCCGTTCTCATAGCGCTCATGGCCAAACGCTCCCCGCTTGGCAGCATCCGCCAGCTGTAACTGGAGGAACAGGACCAGGTTGGGTTTGGGAAGGCCCACGTCTGGCTGTTTACACCAATCTAGGGAAAAATTCTGCCAAGAAAGAACCCAACAGTTAAAGCTTAGTGTAGTCTAGGTTTTTGTTTCGAAAGTCGTAAAAACAGGAAAAAATGAGGGGACATTTGGTGAGGTACCAAGATGTGAGACTGTTTATATTGTGGCTCGTTTAATTTTTAGAACCTCAAACGTGTCGGTTTCTCCAGTGTCACCTTTGTTTTTCCTTTGTAAACAGACAAGTGGACAGAAAAGTAGGTAGATAGAACGGCTGCCAGTCCCCGCCACCCACAGCCCAGGCCCCATGGAGGCCCTCCCAGCACAGCTACAGGCCTGCTGGCCAGGAGCAAACAGTCTATGTACAGAACCCCTGGAGACCCCCGGCCTAGAACGCCTGCAGCACAGAGCAGCTGGGTCCGGACACAGGCACGAGGTCCTTGGCAGTGTCTTTTCTGCCACACACACGCCAGGGTCTCCTCTCCCGTGGAAGAGCAGGAAGAAGACAGGCACTCCTAGAGCCTGTTATGTGCCAGCCTAGTCTCATCCACTGGCCCTTCTTGCCAGGGCTGTGCCAGCACCCTCTCTCCCTCCCTTACTCATCCCATCTCCCTCCAAATGCTGTCCTGTTTCCGGAGGAAAGGTAGGACCAGAAAGGCTGTGACTGCAGGCCACACATCACACAACAGCACAATGAGCTGAGGGAAGGCGTCCACGAGAACCTCCCACAGAGCCTGCGGCTCTGTCAGCTGATCCGCACAGCAGGAAGAAGCAAAGGAATCATGAGTCTTGTCCTCCTTATTATACAACGTAATACTTCAGAGGGGAAGGACTCAAGCTAACACATGAAGAAATGGCAGAATTAAAAAGTGAGGGCGTGGCCGGGCACGGTGGCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCGGGAGGATCACTTGGGCCCAAGAGTTGTTATAGCGAGCTTTGCTTGTTCCACTGTACTCCAGCCTGGGCAACAGAGGGAGACGCCCTCTTTCAAAAAACGGGGGAAAAAAGTACTACAAATGAACCATCTTTGAAAATGCATCTGGAGGCTGGGTGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGATGAGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAGTATGAAAATTAGCTGGGCACGGTGGTGCATGCCTATAATCCCAGATACTCGGGAGACTGAGGCAGGATAATCGCTTGAACTCAGGAGGCAGAGGTTGCAATGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAATGAGAGACTGTCTCCCCAAAAAAAAAAAAAAAAGCGTGTGGAAAATATAATCCAAATACCAACTATGGTTCTATCTGTGAAACAATCTCTAGCTACATAAATGTTTGCTCTTCTTATTGATAAAACCAAATTAATCTAGCAAAGAGATAAAAGGAATATAAGAATCACGAAACTCTGCAGAGTAATCTGAGGCATGTCACTCGTACTCGCATTCAAGGGCAGTCCTGGGTCCACACATCTGTGCTCGCCTGACAGGAGGCCAAGTGGCACTCACCTCCTTGGCACCGGTGAAGGCCACACCAGAAAATGCGTATCTGTCCACGACGAGGGTCACGCCCTGGCTCAACTTTTCCTTAATTAACGGCCTGAAAAAGAGGATGCTCCTGAGCCCTGGTCCTGTTTCATAGGCCTTGAACTGTCAAGCTTAAATTATCCCAACAGGCTGTGCGCAGTGGCTCACCCCTATAATCCCAGCGCTTTGGGAGGCTGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAATACAAAATATTAGCTGGACATGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCATTCCAGC
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Task1_train_5860
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The variant affects gene DTYMK (deoxythymidylate kinase), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Neurodegeneration, childhood-onset, with progressive microcephaly
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GCTGAGATCGTGCCATTGCACTCCAGCCTGGGTTGGCACCCAGAGCAAGATTCTGTCTCAAAAAAAAAAGAATTTGCTGGCACCGAGAACCCCTGAACGACTACTCCCGGGGCTCCACATCTGGGAGGACCAGACGGAAACGGCAGCAGCTTTGCTGACACAACTGTGCCAGCCACCACGGTGTCATCCTGAGCCACTTCTCCACGCTTCCTAGTGTGCAATTCTGGGATTCTCACCTTCCAGTTCAAAGTCGTGTCTTTCATGAGCTGGTGGAAACACCGGAGCGCCCGCTCCTGGAAAGCCCCGTTCTCATAGCGCTCATGGCCAAACGCTCCCCGCTTGGCAGCATCCGCCAGCTGTAACTGGAGGAACAGGACCAGGTCGGGTTTGGGAAGGCCCACGTCTGGCTGTTTACACCAATCTAGGGAAAAATTCTGCCAAGAAAGAACCCAACAGTTAAAGCTTAGTGTAGTCTAGGTTTTTGTTTCGAAAGTCGTAAAAACAGGAAAAAATGAGGGGACATTTGGTGAGGTACCAAGATGTGAGACTGTTTATATTGTGGCTCGTTTAATTTTTAGAACCTCAAACGTGTCGGTTTCTCCAGTGTCACCTTTGTTTTTCCTTTGTAAACAGACAAGTGGACAGAAAAGTAGGTAGATAGAACGGCTGCCAGTCCCCGCCACCCACAGCCCAGGCCCCATGGAGGCCCTCCCAGCACAGCTACAGGCCTGCTGGCCAGGAGCAAACAGTCTATGTACAGAACCCCTGGAGACCCCCGGCCTAGAACGCCTGCAGCACAGAGCAGCTGGGTCCGGACACAGGCACGAGGTCCTTGGCAGTGTCTTTTCTGCCACACACACGCCAGGGTCTCCTCTCCCGTGGAAGAGCAGGAAGAAGACAGGCACTCCTAGAGCCTGTTATGTGCCAGCCTAGTCTCATCCACTGGCCCTTCTTGCCAGGGCTGTGCCAGCACCCTCTCTCCCTCCCTTACTCATCCCATCTCCCTCCAAATGCTGTCCTGTTTCCGGAGGAAAGGTAGGACCAGAAAGGCTGTGACTGCAGGCCACACATCACACAACAGCACAATGAGCTGAGGGAAGGCGTCCACGAGAACCTCCCACAGAGCCTGCGGCTCTGTCAGCTGATCCGCACAGCAGGAAGAAGCAAAGGAATCATGAGTCTTGTCCTCCTTATTATACAACGTAATACTTCAGAGGGGAAGGACTCAAGCTAACACATGAAGAAATGGCAGAATTAAAAAGTGAGGGCGTGGCCGGGCACGGTGGCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCGGGAGGATCACTTGGGCCCAAGAGTTGTTATAGCGAGCTTTGCTTGTTCCACTGTACTCCAGCCTGGGCAACAGAGGGAGACGCCCTCTTTCAAAAAACGGGGGAAAAAAGTACTACAAATGAACCATCTTTGAAAATGCATCTGGAGGCTGGGTGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGATGAGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAGTATGAAAATTAGCTGGGCACGGTGGTGCATGCCTATAATCCCAGATACTCGGGAGACTGAGGCAGGATAATCGCTTGAACTCAGGAGGCAGAGGTTGCAATGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAATGAGAGACTGTCTCCCCAAAAAAAAAAAAAAAAGCGTGTGGAAAATATAATCCAAATACCAACTATGGTTCTATCTGTGAAACAATCTCTAGCTACATAAATGTTTGCTCTTCTTATTGATAAAACCAAATTAATCTAGCAAAGAGATAAAAGGAATATAAGAATCACGAAACTCTGCAGAGTAATCTGAGGCATGTCACTCGTACTCGCATTCAAGGGCAGTCCTGGGTCCACACATCTGTGCTCGCCTGACAGGAGGCCAAGTGGCACTCACCTCCTTGGCACCGGTGAAGGCCACACCAGAAAATGCGTATCTGTCCACGACGAGGGTCACGCCCTGGCTCAACTTTTCCTTAATTAACGGCCTGAAAAAGAGGATGCTCCTGAGCCCTGGTCCTGTTTCATAGGCCTTGAACTGTCAAGCTTAAATTATCCCAACAGGCTGTGCGCAGTGGCTCACCCCTATAATCCCAGCGCTTTGGGAGGCTGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAATACAAAATATTAGCTGGACATGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCATTCCAGCCTGGGTGACACAGCGAGACTCCATCTCAAAAAAAGAAAAAGAAAATTATCCCAACAATACAACTCAGAAATCTCATATGACAACAAGTACAGCACAGTGATTTGTAACCTTACTTTTAATCCAAAAAGGTCTGGATCTTCTCTAGAAGATGCCATACCCACACCTCCAGCAAAACCCAACATGGAGAAGATAACCTTACTAAATAGTAACAAACACAACTGGTAAAGTTCAATGTTCCAGAAACACGGCAGGGGAAAGGAGATGCACTGTCAGCTGTCTTGGTCAGAGAGGCCAGCTCTACCCTGTCGAGGAAGAAGAAAGCACAGGCAAAGAAGAGAGCAGAGGATGGTGGCGGGGGAAGCGTGGGCACAGCCAGCAGGTGACTCATCCATGCTCATGACCCCTAGCCTGGACTGCAAGGATGTTCTCAGCCAAATACCACAAGTCCACCATCATCCCTACAGCTGCCAAGATCACAGATGTACAAAGACACGGGGCCTGACACTAGTGAGAAGCACTGCTCAAGACAGAGAAAGAAAAGTCCGATTCATTCGACTCAGCCAGTCTCACTGGGGCCTTCAAATCACAGGGGCACCCACATAAGGAGTCAACTGGCCTCTGACAAAGCAGCAGAGGGATGCAATGGTGCAAAGGCATTTTCCTCAATAAACGCTGCTGGAACAACTGGACATCCTCATGAAAGAGAATAAATCTAGACCAGACCGTATACCCTCCACGAACATAAATTCAAAATGAATCACAGGCCTGGCACGGTGGCTCACGCCTGTAATCCCAGCTTTCAAGGAGGCAGAGGCAGGAGGATTGCTTGAGCCCAGGAGCTCGAGACCTGCCTGGGCAATATAGTGAGACCCCGTTCTCCACAAAAAGTGGGGGAAAAAAAAGACAAAATGAATCACAGACCCAAATGTAAAATGCAAAACTATGCAACTCCTAGACAGTAACACAGGAGAAAACTTAGATCACCTGGGGTTTGGCAGACTGTTTAGATACAAAACCAAAGGCACAGCCCATGAGAGAATTGATTAAGATGGACTTCACGAAAATAATAACTTTGTGCTTTGTGAGAGACACTGTCAAGAGAAGGAAAGGACAGCCGGACGTGGTGGCTCATGCCTGTGAGCCCAGCACTTTTGGAAGCCATTTGGCGGGATGGATCCCTTGAGGCCAGGTGTTTGAGACCAGCCTGAGTAACAATAGTGAGACCCCATCTCTACAAAAAATGTAAAAATTAGCCAGGGATAGTGGCACGCACCTGTAGTCCTAGCTACTCCAGAGGCTGAGGCAGGAGGATCACTTGAACCCAGGAGTTTAAGGCTGCAGTAAGCTGTGATCATGCCACAACATTCCAGCCTGGGCAACAGAGCAAGACATTTCTCCTAAAAAAAAATAAGGCCAGGCAGGGTGGCTCATGCCTCTAATCACAGCACTTTGGGAAACCAAGGCAGGAGGACTGCTTGGGTCCAGGAGTTCAAGACCAGCCTGGGCAACAATAGTGAGACTCCATCGCTACAAAAAATTTTACAAAAATTAGCCAGGTGTGTTAACGTGCCTATAGTTGCAGCTACTTGGGAGGCTGAGGTGGGAAGATCACTTGAACCCGGGAGGTCGAGGCTGCAGTAAGCTGTGATTGCGCACTGCACTCAGC
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GCTGAGATCGTGCCATTGCACTCCAGCCTGGGTTGGCACCCAGAGCAAGATTCTGTCTCAAAAAAAAAAGAATTTGCTGGCACCGAGAACCCCTGAACGACTACTCCCGGGGCTCCACATCTGGGAGGACCAGACGGAAACGGCAGCAGCTTTGCTGACACAACTGTGCCAGCCACCACGGTGTCATCCTGAGCCACTTCTCCACGCTTCCTAGTGTGCAATTCTGGGATTCTCACCTTCCAGTTCAAAGTCGTGTCTTTCATGAGCTGGTGGAAACACCGGAGCGCCCGCTCCTGGAAAGCCCCGTTCTCATAGCGCTCATGGCCAAACGCTCCCCGCTTGGCAGCATCCGCCAGCTGTAACTGGAGGAACAGGACCAGGTCGGGTTTGGGAAGGCCCACGTCTGGCTGTTTACACCAATCTAGGGAAAAATTCTGCCAAGAAAGAACCCAACAGTTAAAGCTTAGTGTAGTCTAGGTTTTTGTTTCGAAAGTCGTAAAAACAGGAAAAAATGAGGGGACATTTGGTGAGGTACCAAGATGTGAGACTGTTTATATTGTGGCTCGTTTAATTTTTAGAACCTCAAACGTGTCGGTTTCTCCAGTGTCACCTTTGTTTTTCCTTTGTAAACAGACAAGTGGACAGAAAAGTAGGTAGATAGAACGGCTGCCAGTCCCCGCCACCCACAGCCCAGGCCCCATGGAGGCCCTCCCAGCACAGCTACAGGCCTGCTGGCCAGGAGCAAACAGTCTATGTACAGAACCCCTGGAGACCCCCGGCCTAGAACGCCTGCAGCACAGAGCAGCTGGGTCCGGACACAGGCACGAGGTCCTTGGCAGTGTCTTTTCTGCCACACACACGCCAGGGTCTCCTCTCCCGTGGAAGAGCAGGAAGAAGACAGGCACTCCTAGAGCCTGTTATGTGCCAGCCTAGTCTCATCCACTGGCCCTTCTTGCCAGGGCTGTGCCAGCACCCTCTCTCCCTCCCTTACTCATCCCATCTCCCTCCAAATGCTGTCCTGTTTCCGGAGGAAAGGTAGGACCAGAAAGGCTGTGACTGCAGGCCACACATCACACAACAGCACAATGAGCTGAGGGAAGGCGTCCACGAGAACCTCCCACAGAGCCTGCGGCTCTGTCAGCTGATCCGCACAGCAGGAAGAAGCAAAGGAATCATGAGTCTTGTCCTCCTTATTATACAACGTAATACTTCAGAGGGGAAGGACTCAAGCTAACACATGAAGAAATGGCAGAATTAAAAAGTGAGGGCGTGGCCGGGCACGGTGGCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCGGGAGGATCACTTGGGCCCAAGAGTTGTTATAGCGAGCTTTGCTTGTTCCACTGTACTCCAGCCTGGGCAACAGAGGGAGACGCCCTCTTTCAAAAAACGGGGGAAAAAAGTACTACAAATGAACCATCTTTGAAAATGCATCTGGAGGCTGGGTGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGATGAGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAGTATGAAAATTAGCTGGGCACGGTGGTGCATGCCTATAATCCCAGATACTCGGGAGACTGAGGCAGGATAATCGCTTGAACTCAGGAGGCAGAGGTTGCAATGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAATGAGAGACTGTCTCCCCAAAAAAAAAAAAAAAAGCGTGTGGAAAATATAATCCAAATACCAACTATGGTTCTATCTGTGAAACAATCTCTAGCTACATAAATGTTTGCTCTTCTTATTGATAAAACCAAATTAATCTAGCAAAGAGATAAAAGGAATATAAGAATCACGAAACTCTGCAGAGTAATCTGAGGCATGTCACTCGTACTCGCATTCAAGGGCAGTCCTGGGTCCACACATCTGTGCTCGCCTGACAGGAGGCCAAGTGGCACTCACCTCCTTGGCACCGGTGAAGGCCACACCAGAAAATGTGTATCTGTCCACGACGAGGGTCACGCCCTGGCTCAACTTTTCCTTAATTAACGGCCTGAAAAAGAGGATGCTCCTGAGCCCTGGTCCTGTTTCATAGGCCTTGAACTGTCAAGCTTAAATTATCCCAACAGGCTGTGCGCAGTGGCTCACCCCTATAATCCCAGCGCTTTGGGAGGCTGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAATACAAAATATTAGCTGGACATGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCATTCCAGCCTGGGTGACACAGCGAGACTCCATCTCAAAAAAAGAAAAAGAAAATTATCCCAACAATACAACTCAGAAATCTCATATGACAACAAGTACAGCACAGTGATTTGTAACCTTACTTTTAATCCAAAAAGGTCTGGATCTTCTCTAGAAGATGCCATACCCACACCTCCAGCAAAACCCAACATGGAGAAGATAACCTTACTAAATAGTAACAAACACAACTGGTAAAGTTCAATGTTCCAGAAACACGGCAGGGGAAAGGAGATGCACTGTCAGCTGTCTTGGTCAGAGAGGCCAGCTCTACCCTGTCGAGGAAGAAGAAAGCACAGGCAAAGAAGAGAGCAGAGGATGGTGGCGGGGGAAGCGTGGGCACAGCCAGCAGGTGACTCATCCATGCTCATGACCCCTAGCCTGGACTGCAAGGATGTTCTCAGCCAAATACCACAAGTCCACCATCATCCCTACAGCTGCCAAGATCACAGATGTACAAAGACACGGGGCCTGACACTAGTGAGAAGCACTGCTCAAGACAGAGAAAGAAAAGTCCGATTCATTCGACTCAGCCAGTCTCACTGGGGCCTTCAAATCACAGGGGCACCCACATAAGGAGTCAACTGGCCTCTGACAAAGCAGCAGAGGGATGCAATGGTGCAAAGGCATTTTCCTCAATAAACGCTGCTGGAACAACTGGACATCCTCATGAAAGAGAATAAATCTAGACCAGACCGTATACCCTCCACGAACATAAATTCAAAATGAATCACAGGCCTGGCACGGTGGCTCACGCCTGTAATCCCAGCTTTCAAGGAGGCAGAGGCAGGAGGATTGCTTGAGCCCAGGAGCTCGAGACCTGCCTGGGCAATATAGTGAGACCCCGTTCTCCACAAAAAGTGGGGGAAAAAAAAGACAAAATGAATCACAGACCCAAATGTAAAATGCAAAACTATGCAACTCCTAGACAGTAACACAGGAGAAAACTTAGATCACCTGGGGTTTGGCAGACTGTTTAGATACAAAACCAAAGGCACAGCCCATGAGAGAATTGATTAAGATGGACTTCACGAAAATAATAACTTTGTGCTTTGTGAGAGACACTGTCAAGAGAAGGAAAGGACAGCCGGACGTGGTGGCTCATGCCTGTGAGCCCAGCACTTTTGGAAGCCATTTGGCGGGATGGATCCCTTGAGGCCAGGTGTTTGAGACCAGCCTGAGTAACAATAGTGAGACCCCATCTCTACAAAAAATGTAAAAATTAGCCAGGGATAGTGGCACGCACCTGTAGTCCTAGCTACTCCAGAGGCTGAGGCAGGAGGATCACTTGAACCCAGGAGTTTAAGGCTGCAGTAAGCTGTGATCATGCCACAACATTCCAGCCTGGGCAACAGAGCAAGACATTTCTCCTAAAAAAAAATAAGGCCAGGCAGGGTGGCTCATGCCTCTAATCACAGCACTTTGGGAAACCAAGGCAGGAGGACTGCTTGGGTCCAGGAGTTCAAGACCAGCCTGGGCAACAATAGTGAGACTCCATCGCTACAAAAAATTTTACAAAAATTAGCCAGGTGTGTTAACGTGCCTATAGTTGCAGCTACTTGGGAGGCTGAGGTGGGAAGATCACTTGAACCCGGGAGGTCGAGGCTGCAGTAAGCTGTGATTGCGCACTGCACTCAGC
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Task1_train_5861
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This variant impacts the gene DTYMK (deoxythymidylate kinase) on Chromosome 2. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Neurodegeneration, childhood-onset, with progressive microcephaly
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TGTCTCAAAAAAAAAAGAATTTGCTGGCACCGAGAACCCCTGAACGACTACTCCCGGGGCTCCACATCTGGGAGGACCAGACGGAAACGGCAGCAGCTTTGCTGACACAACTGTGCCAGCCACCACGGTGTCATCCTGAGCCACTTCTCCACGCTTCCTAGTGTGCAATTCTGGGATTCTCACCTTCCAGTTCAAAGTCGTGTCTTTCATGAGCTGGTGGAAACACCGGAGCGCCCGCTCCTGGAAAGCCCCGTTCTCATAGCGCTCATGGCCAAACGCTCCCCGCTTGGCAGCATCCGCCAGCTGTAACTGGAGGAACAGGACCAGGTCGGGTTTGGGAAGGCCCACGTCTGGCTGTTTACACCAATCTAGGGAAAAATTCTGCCAAGAAAGAACCCAACAGTTAAAGCTTAGTGTAGTCTAGGTTTTTGTTTCGAAAGTCGTAAAAACAGGAAAAAATGAGGGGACATTTGGTGAGGTACCAAGATGTGAGACTGTTTATATTGTGGCTCGTTTAATTTTTAGAACCTCAAACGTGTCGGTTTCTCCAGTGTCACCTTTGTTTTTCCTTTGTAAACAGACAAGTGGACAGAAAAGTAGGTAGATAGAACGGCTGCCAGTCCCCGCCACCCACAGCCCAGGCCCCATGGAGGCCCTCCCAGCACAGCTACAGGCCTGCTGGCCAGGAGCAAACAGTCTATGTACAGAACCCCTGGAGACCCCCGGCCTAGAACGCCTGCAGCACAGAGCAGCTGGGTCCGGACACAGGCACGAGGTCCTTGGCAGTGTCTTTTCTGCCACACACACGCCAGGGTCTCCTCTCCCGTGGAAGAGCAGGAAGAAGACAGGCACTCCTAGAGCCTGTTATGTGCCAGCCTAGTCTCATCCACTGGCCCTTCTTGCCAGGGCTGTGCCAGCACCCTCTCTCCCTCCCTTACTCATCCCATCTCCCTCCAAATGCTGTCCTGTTTCCGGAGGAAAGGTAGGACCAGAAAGGCTGTGACTGCAGGCCACACATCACACAACAGCACAATGAGCTGAGGGAAGGCGTCCACGAGAACCTCCCACAGAGCCTGCGGCTCTGTCAGCTGATCCGCACAGCAGGAAGAAGCAAAGGAATCATGAGTCTTGTCCTCCTTATTATACAACGTAATACTTCAGAGGGGAAGGACTCAAGCTAACACATGAAGAAATGGCAGAATTAAAAAGTGAGGGCGTGGCCGGGCACGGTGGCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCGGGAGGATCACTTGGGCCCAAGAGTTGTTATAGCGAGCTTTGCTTGTTCCACTGTACTCCAGCCTGGGCAACAGAGGGAGACGCCCTCTTTCAAAAAACGGGGGAAAAAAGTACTACAAATGAACCATCTTTGAAAATGCATCTGGAGGCTGGGTGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGATGAGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAGTATGAAAATTAGCTGGGCACGGTGGTGCATGCCTATAATCCCAGATACTCGGGAGACTGAGGCAGGATAATCGCTTGAACTCAGGAGGCAGAGGTTGCAATGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAATGAGAGACTGTCTCCCCAAAAAAAAAAAAAAAAGCGTGTGGAAAATATAATCCAAATACCAACTATGGTTCTATCTGTGAAACAATCTCTAGCTACATAAATGTTTGCTCTTCTTATTGATAAAACCAAATTAATCTAGCAAAGAGATAAAAGGAATATAAGAATCACGAAACTCTGCAGAGTAATCTGAGGCATGTCACTCGTACTCGCATTCAAGGGCAGTCCTGGGTCCACACATCTGTGCTCGCCTGACAGGAGGCCAAGTGGCACTCACCTCCTTGGCACCGGTGAAGGCCACACCAGAAAATGCGTATCTGTCCACGACGAGGGTCACGCCCTGGCTCAACTTTTCCTTAATTAACGGCCTGAAAAAGAGGATGCTCCTGAGCCCTGGTCCTGTTTCATAGGCCTTGAACTGTCAAGCTTAAATTATCCCAACAGGCTGTGCGCAGTGGCTCACCCCTATAATCCCAGCGCTTTGGGAGGCTGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAATACAAAATATTAGCTGGACATGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCATTCCAGCCTGGGTGACACAGCGAGACTCCATCTCAAAAAAAGAAAAAGAAAATTATCCCAACAATACAACTCAGAAATCTCATATGACAACAAGTACAGCACAGTGATTTGTAACCTTACTTTTAATCCAAAAAGGTCTGGATCTTCTCTAGAAGATGCCATACCCACACCTCCAGCAAAACCCAACATGGAGAAGATAACCTTACTAAATAGTAACAAACACAACTGGTAAAGTTCAATGTTCCAGAAACACGGCAGGGGAAAGGAGATGCACTGTCAGCTGTCTTGGTCAGAGAGGCCAGCTCTACCCTGTCGAGGAAGAAGAAAGCACAGGCAAAGAAGAGAGCAGAGGATGGTGGCGGGGGAAGCGTGGGCACAGCCAGCAGGTGACTCATCCATGCTCATGACCCCTAGCCTGGACTGCAAGGATGTTCTCAGCCAAATACCACAAGTCCACCATCATCCCTACAGCTGCCAAGATCACAGATGTACAAAGACACGGGGCCTGACACTAGTGAGAAGCACTGCTCAAGACAGAGAAAGAAAAGTCCGATTCATTCGACTCAGCCAGTCTCACTGGGGCCTTCAAATCACAGGGGCACCCACATAAGGAGTCAACTGGCCTCTGACAAAGCAGCAGAGGGATGCAATGGTGCAAAGGCATTTTCCTCAATAAACGCTGCTGGAACAACTGGACATCCTCATGAAAGAGAATAAATCTAGACCAGACCGTATACCCTCCACGAACATAAATTCAAAATGAATCACAGGCCTGGCACGGTGGCTCACGCCTGTAATCCCAGCTTTCAAGGAGGCAGAGGCAGGAGGATTGCTTGAGCCCAGGAGCTCGAGACCTGCCTGGGCAATATAGTGAGACCCCGTTCTCCACAAAAAGTGGGGGAAAAAAAAGACAAAATGAATCACAGACCCAAATGTAAAATGCAAAACTATGCAACTCCTAGACAGTAACACAGGAGAAAACTTAGATCACCTGGGGTTTGGCAGACTGTTTAGATACAAAACCAAAGGCACAGCCCATGAGAGAATTGATTAAGATGGACTTCACGAAAATAATAACTTTGTGCTTTGTGAGAGACACTGTCAAGAGAAGGAAAGGACAGCCGGACGTGGTGGCTCATGCCTGTGAGCCCAGCACTTTTGGAAGCCATTTGGCGGGATGGATCCCTTGAGGCCAGGTGTTTGAGACCAGCCTGAGTAACAATAGTGAGACCCCATCTCTACAAAAAATGTAAAAATTAGCCAGGGATAGTGGCACGCACCTGTAGTCCTAGCTACTCCAGAGGCTGAGGCAGGAGGATCACTTGAACCCAGGAGTTTAAGGCTGCAGTAAGCTGTGATCATGCCACAACATTCCAGCCTGGGCAACAGAGCAAGACATTTCTCCTAAAAAAAAATAAGGCCAGGCAGGGTGGCTCATGCCTCTAATCACAGCACTTTGGGAAACCAAGGCAGGAGGACTGCTTGGGTCCAGGAGTTCAAGACCAGCCTGGGCAACAATAGTGAGACTCCATCGCTACAAAAAATTTTACAAAAATTAGCCAGGTGTGTTAACGTGCCTATAGTTGCAGCTACTTGGGAGGCTGAGGTGGGAAGATCACTTGAACCCGGGAGGTCGAGGCTGCAGTAAGCTGTGATTGCGCACTGCACTCAGCCTGCATGACACAGAGACCCTGTCTAAAAAAAGAAAAGAGAGAAAGAGAGTGAG
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TGTCTCAAAAAAAAAAGAATTTGCTGGCACCGAGAACCCCTGAACGACTACTCCCGGGGCTCCACATCTGGGAGGACCAGACGGAAACGGCAGCAGCTTTGCTGACACAACTGTGCCAGCCACCACGGTGTCATCCTGAGCCACTTCTCCACGCTTCCTAGTGTGCAATTCTGGGATTCTCACCTTCCAGTTCAAAGTCGTGTCTTTCATGAGCTGGTGGAAACACCGGAGCGCCCGCTCCTGGAAAGCCCCGTTCTCATAGCGCTCATGGCCAAACGCTCCCCGCTTGGCAGCATCCGCCAGCTGTAACTGGAGGAACAGGACCAGGTCGGGTTTGGGAAGGCCCACGTCTGGCTGTTTACACCAATCTAGGGAAAAATTCTGCCAAGAAAGAACCCAACAGTTAAAGCTTAGTGTAGTCTAGGTTTTTGTTTCGAAAGTCGTAAAAACAGGAAAAAATGAGGGGACATTTGGTGAGGTACCAAGATGTGAGACTGTTTATATTGTGGCTCGTTTAATTTTTAGAACCTCAAACGTGTCGGTTTCTCCAGTGTCACCTTTGTTTTTCCTTTGTAAACAGACAAGTGGACAGAAAAGTAGGTAGATAGAACGGCTGCCAGTCCCCGCCACCCACAGCCCAGGCCCCATGGAGGCCCTCCCAGCACAGCTACAGGCCTGCTGGCCAGGAGCAAACAGTCTATGTACAGAACCCCTGGAGACCCCCGGCCTAGAACGCCTGCAGCACAGAGCAGCTGGGTCCGGACACAGGCACGAGGTCCTTGGCAGTGTCTTTTCTGCCACACACACGCCAGGGTCTCCTCTCCCGTGGAAGAGCAGGAAGAAGACAGGCACTCCTAGAGCCTGTTATGTGCCAGCCTAGTCTCATCCACTGGCCCTTCTTGCCAGGGCTGTGCCAGCACCCTCTCTCCCTCCCTTACTCATCCCATCTCCCTCCAAATGCTGTCCTGTTTCCGGAGGAAAGGTAGGACCAGAAAGGCTGTGACTGCAGGCCACACATCACACAACAGCACAATGAGCTGAGGGAAGGCGTCCACGAGAACCTCCCACAGAGCCTGCGGCTCTGTCAGCTGATCCGCACAGCAGGAAGAAGCAAAGGAATCATGAGTCTTGTCCTCCTTATTATACAACGTAATACTTCAGAGGGGAAGGACTCAAGCTAACACATGAAGAAATGGCAGAATTAAAAAGTGAGGGCGTGGCCGGGCACGGTGGCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCGGGAGGATCACTTGGGCCCAAGAGTTGTTATAGCGAGCTTTGCTTGTTCCACTGTACTCCAGCCTGGGCAACAGAGGGAGACGCCCTCTTTCAAAAAACGGGGGAAAAAAGTACTACAAATGAACCATCTTTGAAAATGCATCTGGAGGCTGGGTGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGATGAGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAGTATGAAAATTAGCTGGGCACGGTGGTGCATGCCTATAATCCCAGATACTCGGGAGACTGAGGCAGGATAATCGCTTGAACTCAGGAGGCAGAGGTTGCAATGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAATGAGAGACTGTCTCCCCAAAAAAAAAAAAAAAAGCGTGTGGAAAATATAATCCAAATACCAACTATGGTTCTATCTGTGAAACAATCTCTAGCTACATAAATGTTTGCTCTTCTTATTGATAAAACCAAATTAATCTAGCAAAGAGATAAAAGGAATATAAGAATCACGAAACTCTGCAGAGTAATCTGAGGCATGTCACTCGTACTCGCATTCAAGGGCAGTCCTGGGTCCACACATCTGTGCTCGCCTGACAGGAGGCCAAGTGGCACTCACCTCCTTGGCACCGGTGAAGGCCACACCAGAAAATGCGTATCTGTCCACGACGAGGGTCACGCCCTGGCTCAACTTTTCCTTAATTAACAGCCTGAAAAAGAGGATGCTCCTGAGCCCTGGTCCTGTTTCATAGGCCTTGAACTGTCAAGCTTAAATTATCCCAACAGGCTGTGCGCAGTGGCTCACCCCTATAATCCCAGCGCTTTGGGAGGCTGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAATACAAAATATTAGCTGGACATGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCATTCCAGCCTGGGTGACACAGCGAGACTCCATCTCAAAAAAAGAAAAAGAAAATTATCCCAACAATACAACTCAGAAATCTCATATGACAACAAGTACAGCACAGTGATTTGTAACCTTACTTTTAATCCAAAAAGGTCTGGATCTTCTCTAGAAGATGCCATACCCACACCTCCAGCAAAACCCAACATGGAGAAGATAACCTTACTAAATAGTAACAAACACAACTGGTAAAGTTCAATGTTCCAGAAACACGGCAGGGGAAAGGAGATGCACTGTCAGCTGTCTTGGTCAGAGAGGCCAGCTCTACCCTGTCGAGGAAGAAGAAAGCACAGGCAAAGAAGAGAGCAGAGGATGGTGGCGGGGGAAGCGTGGGCACAGCCAGCAGGTGACTCATCCATGCTCATGACCCCTAGCCTGGACTGCAAGGATGTTCTCAGCCAAATACCACAAGTCCACCATCATCCCTACAGCTGCCAAGATCACAGATGTACAAAGACACGGGGCCTGACACTAGTGAGAAGCACTGCTCAAGACAGAGAAAGAAAAGTCCGATTCATTCGACTCAGCCAGTCTCACTGGGGCCTTCAAATCACAGGGGCACCCACATAAGGAGTCAACTGGCCTCTGACAAAGCAGCAGAGGGATGCAATGGTGCAAAGGCATTTTCCTCAATAAACGCTGCTGGAACAACTGGACATCCTCATGAAAGAGAATAAATCTAGACCAGACCGTATACCCTCCACGAACATAAATTCAAAATGAATCACAGGCCTGGCACGGTGGCTCACGCCTGTAATCCCAGCTTTCAAGGAGGCAGAGGCAGGAGGATTGCTTGAGCCCAGGAGCTCGAGACCTGCCTGGGCAATATAGTGAGACCCCGTTCTCCACAAAAAGTGGGGGAAAAAAAAGACAAAATGAATCACAGACCCAAATGTAAAATGCAAAACTATGCAACTCCTAGACAGTAACACAGGAGAAAACTTAGATCACCTGGGGTTTGGCAGACTGTTTAGATACAAAACCAAAGGCACAGCCCATGAGAGAATTGATTAAGATGGACTTCACGAAAATAATAACTTTGTGCTTTGTGAGAGACACTGTCAAGAGAAGGAAAGGACAGCCGGACGTGGTGGCTCATGCCTGTGAGCCCAGCACTTTTGGAAGCCATTTGGCGGGATGGATCCCTTGAGGCCAGGTGTTTGAGACCAGCCTGAGTAACAATAGTGAGACCCCATCTCTACAAAAAATGTAAAAATTAGCCAGGGATAGTGGCACGCACCTGTAGTCCTAGCTACTCCAGAGGCTGAGGCAGGAGGATCACTTGAACCCAGGAGTTTAAGGCTGCAGTAAGCTGTGATCATGCCACAACATTCCAGCCTGGGCAACAGAGCAAGACATTTCTCCTAAAAAAAAATAAGGCCAGGCAGGGTGGCTCATGCCTCTAATCACAGCACTTTGGGAAACCAAGGCAGGAGGACTGCTTGGGTCCAGGAGTTCAAGACCAGCCTGGGCAACAATAGTGAGACTCCATCGCTACAAAAAATTTTACAAAAATTAGCCAGGTGTGTTAACGTGCCTATAGTTGCAGCTACTTGGGAGGCTGAGGTGGGAAGATCACTTGAACCCGGGAGGTCGAGGCTGCAGTAAGCTGTGATTGCGCACTGCACTCAGCCTGCATGACACAGAGACCCTGTCTAAAAAAAGAAAAGAGAGAAAGAGAGTGAG
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Task1_train_5862
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This sequence variant lies in D2HGDH (D-2-hydroxyglutarate dehydrogenase) on Chromosome 2. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; D-2-hydroxyglutaric aciduria 1
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GAGCACGCCTGCACTGGCAGGAAGGTGGGAGCTTCGCGGTGTGAAAACAGGCTGGGCCCCTGTGTCACCTCTGGCGGCCTTGCCCCCATGGCCCCCTCCGTCTTTGTGGGGCTCCCATCGTTAACACTGGACCACCGGGAGGGAGCCCTCCTTTTCATCTTTCCCGTTAGAAGGTAAACATCACAGGAGTGGGAAATTCTGTGCTCATTCTGTGTCTGGAACGCGGCCTGGCCTGCATTCTTGGGGGGTACTCATGTTTGTGTTGAGAACCCTGCCACAGGCGCGTCACAAGTGTGTCCGAGTCGAAAGCTTTGCCATGAGTCCTGGGGCTCCTGAGCCCACTCGGGACAGGGACGCAGTGAGCGCAGGTGCCAGGGTTCCCTCAGGTGCCGCACTGAAGTGTCGGGCCGAGGCCCAGGTGCCCAGCAGGCCCCTCTGCAAAAATTGCTCATTTGATGAAAGAGACATAAGTGGCTTTCTGATCAGAAAAGCAAGGTGGACACCACAGCCTGGTTCTCAGAGCTCCACGAAGAGGTGACAGGCTCCCGTGACTGCACCTGCTGCCTCTCTGCAGCCCCCATCACCTGGGAAAGTCGTCTCAAGGAAACCCAAAGGCAGAAAGACGCCTGCTCACTTGGGGCAGCAGTGGTTAGCAACACCGGCGAACTAGCTCAGAGGGCTCCCACTGGTCACATCCAGGCATTCAGCAAATAAGGCGGCCAAGACTTATAGCCCAGTGAATAAAGTGAGAAGCCGAGAGCCCACATCACTGTGAATAAGCAGCTACATAAACACGTCAGTGAGAGCGAAGGGAAAGCCCTCCCTCGTGGCAGAGTCAGCTAAGAGGCCGGGCGCGGCGACTCATGCCTGTAACCACAGCCCTTAGGGAGGCTGAGGTGGGTGGATTGCTTGAGGCCATGAGTTCAAGATCAGACTGGGGAACATGGTGAAACCCTGTTTCTACTAAAAATATCAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAGTCCCAGCTGCTTGGGAGGCTGAAGCAGGAGGATCGCTTGAGCTCAGGAGGTTGAGGCTGCAGTGAGCTGTGATTGTGTCACTGTACTCCAGACTGGGTGACGGAGTGAGACCCTGTTTCAAAAGAAATAAAAGGAAGTGTAGGTGGACAGATGGATTTAGGAAAATCACCAGTTGGCAACCATCCTAGTAACTGATTTGGTCTAGGATAATCAAAGATGTTAATGGGTGAAGCTTGAGGAGCAACAGGATGTCCACATAGTCTCAAGCGTCTGCTTGTGAGGTGCACACACATCACGAAAGGAAGTGTGGTGGCGTGGCAGGAGGGAAGCCTGCAGACATCCCGTTACCGTGGGACCGAGCCGACCTCACCACAAGTGGGTGGGCAACCTTGGAGCTGCCAATGCCTGGCCTGTGGGACTCTCATCCATGGGCCCAGCCTTACCCACTTCTGCACACTGTGCCCAGTGCCCGGCCCACCACCTCCCATGTGGGACCTAGTTTTGGTTTTTTTGAGATGGCTTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGTTGCGATCATAGCTCACTGCAGCCTTGACCTCCTGGACTCAGATGATTCTCCCTCCTCAGCTTCCCAAATAAGATCACTCTCTGGGGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGCAGTGGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGGGTGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGGAGAGGTTGCAGTGAGCCAGGATCGTGGCACTTCAGCCTGGGCAACAGAGTGAGAGTCCGTCTCCAAAAAAAAAAACTCGCTCTCTGGGGCGAGTGACCACTTGCCTCATCTGCAGCTCCCCCCACGCTGTCTCATAGGATCTTCTTCCTGTCACAGGCTGTAGCAAGGTGCTGCTGAGGCCACGGACGTCGGAGGAGGTGTCCCACATCCTCAGGTGAGGTGGTGGCTCCCGGCTCCCCCAGCCTTCCCTGTTGCCTGTGGGTCATTTCCTCATGGAGCCTGTGGGCAGCTGGGGTGACGCGGTGCGAAGCCAGCCGATGACATCTTGGTTTGTGTGTCTCAGTGTTTGTTCTGTGGTTTTTCGGTGCTATCTCAATGCATCTGTGGTGTGTAATCATTTCCCCCCATTTGGCAATGCCCATGCCCATTTCTTGGCACTGTCTGTAACAGCAAAGCTCCTCCCCCATGAACACACTACAGGGTGGCACTGGTCTCCGGGTGTCCATGACTGTGGACAGTGCTTTAGATCATCCTCAGCAGGTGCTTTGGGGCAACGTGCACTTACTCTGTTAAACTCCATCCCTGGGACTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGCCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGACTTGCTGTCTCCAGGGTTTATTTCATGTATGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTATGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTATGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGACTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGCCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTACATGGGCAGATTCCTTTTCCCAGAGCACGGAACTTTGGTTTCTCCAAACCCCTAGCCACTGGGTGTGCTCTAGGCTTTGGGGCTTTGCAAAGGTGCAGGCTGGTTGGGAGGGAGGTATCCTTGGGCACACGTCTGGGGGATAATGGGCCGAGGGTGGGGAGATGCAGGCAGAGGGTGGAAGGCAGTGGGGGCAGTGCGGTCGAGGAACCCTGAGCTGGACCCTCTGTGAGCATGGTGTGAACGGGAAGGATGGGAGCCGGGCGTGTAGGACGTTCTGTCCTTTGAGGGAAGCCTTGTAGGACGTCAGAATCGGGGCCTCCACTTCCGTCTCCCTGTGCACAGCTTTCGGATTGGCCTCTGTCCTTCCTCAGAATCCCTCACATGCGTGGGCTGGGGAGGAGCCCCCGCTGAGGCTGCAGGCAGGGCAGGGTAATCAGGATTTGGAGTCAGGCACTGGTCCTGCGGCGTGTCCTTGGGGATGGTGGCGTAGGGGTGGGGACAGAGCCCCAACGTCCCTCCTGTCCTCATCCCAGGCACTGCCACGAGAGGAACCTGGCCGTGAACCCACAGGGGGGCAACACAGGCATGGTGGGTGGCAGCGTCCCCGTCTTTGACGAGATCATCCTCTCCACTGCCCGCATGAACCGGGTCCTCAGCTTCCACAGCGTGTCTGGTAAGCCTGTGCCACCCGTCGGGGCCCAGGAGTCCCTCCTGGTGCTGGTGGAGTTCTTCCTTGCCAGCGTCTGCAACTGTGGGGTGCTTGGGTGGGTGAATGAGTTAGGGCCGGCGCTGGGGAAAGAACCAGCGTCTGTAGCCTGGCCGCCTAGCCCCACCTCGCCCGGCCCCTCCAGACATGCGTGCTGGTGAGGGCTTGTCATTCTGGTCCCTTCCGACTCCATCCCGCTCTAGAGGTGTGTGAGGTGCAGAGTGGCATGTGTGAGGGGATCCTGACCCAGGGTGCCAGGGCGTGGCAGGCATGAGGGGATCCTGACCCAGGGCGCCAGGGCGTGGCAGGCGTGAGGGGATCCTGACCCAGGGCGCCAGGGCGTGGCAGGCGTGAGGGGATCCTGACCCAGGGCGCCAGAGCGTGGCAGGCATGAGGGGATCCTGACCCAGGGCGCCAGGGCGTGGCAGGCGTGAGGGGATCCTGACCCAGGGCGCCAGGGCGTGGCAGGCGTGAGGGGATCCTGACCCAGGGTGCCAGGGCGTGGC
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GAGCACGCCTGCACTGGCAGGAAGGTGGGAGCTTCGCGGTGTGAAAACAGGCTGGGCCCCTGTGTCACCTCTGGCGGCCTTGCCCCCATGGCCCCCTCCGTCTTTGTGGGGCTCCCATCGTTAACACTGGACCACCGGGAGGGAGCCCTCCTTTTCATCTTTCCCGTTAGAAGGTAAACATCACAGGAGTGGGAAATTCTGTGCTCATTCTGTGTCTGGAACGCGGCCTGGCCTGCATTCTTGGGGGGTACTCATGTTTGTGTTGAGAACCCTGCCACAGGCGCGTCACAAGTGTGTCCGAGTCGAAAGCTTTGCCATGAGTCCTGGGGCTCCTGAGCCCACTCGGGACAGGGACGCAGTGAGCGCAGGTGCCAGGGTTCCCTCAGGTGCCGCACTGAAGTGTCGGGCCGAGGCCCAGGTGCCCAGCAGGCCCCTCTGCAAAAATTGCTCATTTGATGAAAGAGACATAAGTGGCTTTCTGATCAGAAAAGCAAGGTGGACACCACAGCCTGGTTCTCAGAGCTCCACGAAGAGGTGACAGGCTCCCGTGACTGCACCTGCTGCCTCTCTGCAGCCCCCATCACCTGGGAAAGTCGTCTCAAGGAAACCCAAAGGCAGAAAGACGCCTGCTCACTTGGGGCAGCAGTGGTTAGCAACACCGGCGAACTAGCTCAGAGGGCTCCCACTGGTCACATCCAGGCATTCAGCAAATAAGGCGGCCAAGACTTATAGCCCAGTGAATAAAGTGAGAAGCCGAGAGCCCACATCACTGTGAATAAGCAGCTACATAAACACGTCAGTGAGAGCGAAGGGAAAGCCCTCCCTCGTGGCAGAGTCAGCTAAGAGGCCGGGCGCGGCGACTCATGCCTGTAACCACAGCCCTTAGGGAGGCTGAGGTGGGTGGATTGCTTGAGGCCATGAGTTCAAGATCAGACTGGGGAACATGGTGAAACCCTGTTTCTACTAAAAATATCAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAGTCCCAGCTGCTTGGGAGGCTGAAGCAGGAGGATCGCTTGAGCTCAGGAGGTTGAGGCTGCAGTGAGCTGTGATTGTGTCACTGTACTCCAGACTGGGTGACGGAGTGAGACCCTGTTTCAAAAGAAATAAAAGGAAGTGTAGGTGGACAGATGGATTTAGGAAAATCACCAGTTGGCAACCATCCTAGTAACTGATTTGGTCTAGGATAATCAAAGATGTTAATGGGTGAAGCTTGAGGAGCAACAGGATGTCCACATAGTCTCAAGCGTCTGCTTGTGAGGTGCACACACATCACGAAAGGAAGTGTGGTGGCGTGGCAGGAGGGAAGCCTGCAGACATCCCGTTACCGTGGGACCGAGCCGACCTCACCACAAGTGGGTGGGCAACCTTGGAGCTGCCAATGCCTGGCCTGTGGGACTCTCATCCATGGGCCCAGCCTTACCCACTTCTGCACACTGTGCCCAGTGCCCGGCCCACCACCTCCCATGTGGGACCTAGTTTTGGTTTTTTTGAGATGGCTTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGTTGCGATCATAGCTCACTGCAGCCTTGACCTCCTGGACTCAGATGATTCTCCCTCCTCAGCTTCCCAAATAAGATCACTCTCTGGGGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGCAGTGGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGGGTGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGGAGAGGTTGCAGTGAGCCAGGATCGTGGCACTTCAGCCTGGGCAACAGAGTGAGAGTCCGTCTCCAAAAAAAAAAACTCGCTCTCTGGGGCGAGTGACCACTTGCCTCATCTGCAGCTCCCCCCACGCTGTCTCATAGGATCTTCTTCCTGTCACAGGCTGTAGCAAGGTGCTGCTGAGGCCACGGACGTGGGAGGAGGTGTCCCACATCCTCAGGTGAGGTGGTGGCTCCCGGCTCCCCCAGCCTTCCCTGTTGCCTGTGGGTCATTTCCTCATGGAGCCTGTGGGCAGCTGGGGTGACGCGGTGCGAAGCCAGCCGATGACATCTTGGTTTGTGTGTCTCAGTGTTTGTTCTGTGGTTTTTCGGTGCTATCTCAATGCATCTGTGGTGTGTAATCATTTCCCCCCATTTGGCAATGCCCATGCCCATTTCTTGGCACTGTCTGTAACAGCAAAGCTCCTCCCCCATGAACACACTACAGGGTGGCACTGGTCTCCGGGTGTCCATGACTGTGGACAGTGCTTTAGATCATCCTCAGCAGGTGCTTTGGGGCAACGTGCACTTACTCTGTTAAACTCCATCCCTGGGACTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGCCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGACTTGCTGTCTCCAGGGTTTATTTCATGTATGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTATGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTATGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGACTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGCCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTACATGGGCAGATTCCTTTTCCCAGAGCACGGAACTTTGGTTTCTCCAAACCCCTAGCCACTGGGTGTGCTCTAGGCTTTGGGGCTTTGCAAAGGTGCAGGCTGGTTGGGAGGGAGGTATCCTTGGGCACACGTCTGGGGGATAATGGGCCGAGGGTGGGGAGATGCAGGCAGAGGGTGGAAGGCAGTGGGGGCAGTGCGGTCGAGGAACCCTGAGCTGGACCCTCTGTGAGCATGGTGTGAACGGGAAGGATGGGAGCCGGGCGTGTAGGACGTTCTGTCCTTTGAGGGAAGCCTTGTAGGACGTCAGAATCGGGGCCTCCACTTCCGTCTCCCTGTGCACAGCTTTCGGATTGGCCTCTGTCCTTCCTCAGAATCCCTCACATGCGTGGGCTGGGGAGGAGCCCCCGCTGAGGCTGCAGGCAGGGCAGGGTAATCAGGATTTGGAGTCAGGCACTGGTCCTGCGGCGTGTCCTTGGGGATGGTGGCGTAGGGGTGGGGACAGAGCCCCAACGTCCCTCCTGTCCTCATCCCAGGCACTGCCACGAGAGGAACCTGGCCGTGAACCCACAGGGGGGCAACACAGGCATGGTGGGTGGCAGCGTCCCCGTCTTTGACGAGATCATCCTCTCCACTGCCCGCATGAACCGGGTCCTCAGCTTCCACAGCGTGTCTGGTAAGCCTGTGCCACCCGTCGGGGCCCAGGAGTCCCTCCTGGTGCTGGTGGAGTTCTTCCTTGCCAGCGTCTGCAACTGTGGGGTGCTTGGGTGGGTGAATGAGTTAGGGCCGGCGCTGGGGAAAGAACCAGCGTCTGTAGCCTGGCCGCCTAGCCCCACCTCGCCCGGCCCCTCCAGACATGCGTGCTGGTGAGGGCTTGTCATTCTGGTCCCTTCCGACTCCATCCCGCTCTAGAGGTGTGTGAGGTGCAGAGTGGCATGTGTGAGGGGATCCTGACCCAGGGTGCCAGGGCGTGGCAGGCATGAGGGGATCCTGACCCAGGGCGCCAGGGCGTGGCAGGCGTGAGGGGATCCTGACCCAGGGCGCCAGGGCGTGGCAGGCGTGAGGGGATCCTGACCCAGGGCGCCAGAGCGTGGCAGGCATGAGGGGATCCTGACCCAGGGCGCCAGGGCGTGGCAGGCGTGAGGGGATCCTGACCCAGGGCGCCAGGGCGTGGCAGGCGTGAGGGGATCCTGACCCAGGGTGCCAGGGCGTGGC
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Task1_train_5863
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Chromosome 2 houses a mutation in gene D2HGDH (D-2-hydroxyglutarate dehydrogenase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; D-2-hydroxyglutaric aciduria 1
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TGCACACTGTGCCCAGTGCCCGGCCCACCACCTCCCATGTGGGACCTAGTTTTGGTTTTTTTGAGATGGCTTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGTTGCGATCATAGCTCACTGCAGCCTTGACCTCCTGGACTCAGATGATTCTCCCTCCTCAGCTTCCCAAATAAGATCACTCTCTGGGGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGCAGTGGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGGGTGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGGAGAGGTTGCAGTGAGCCAGGATCGTGGCACTTCAGCCTGGGCAACAGAGTGAGAGTCCGTCTCCAAAAAAAAAAACTCGCTCTCTGGGGCGAGTGACCACTTGCCTCATCTGCAGCTCCCCCCACGCTGTCTCATAGGATCTTCTTCCTGTCACAGGCTGTAGCAAGGTGCTGCTGAGGCCACGGACGTCGGAGGAGGTGTCCCACATCCTCAGGTGAGGTGGTGGCTCCCGGCTCCCCCAGCCTTCCCTGTTGCCTGTGGGTCATTTCCTCATGGAGCCTGTGGGCAGCTGGGGTGACGCGGTGCGAAGCCAGCCGATGACATCTTGGTTTGTGTGTCTCAGTGTTTGTTCTGTGGTTTTTCGGTGCTATCTCAATGCATCTGTGGTGTGTAATCATTTCCCCCCATTTGGCAATGCCCATGCCCATTTCTTGGCACTGTCTGTAACAGCAAAGCTCCTCCCCCATGAACACACTACAGGGTGGCACTGGTCTCCGGGTGTCCATGACTGTGGACAGTGCTTTAGATCATCCTCAGCAGGTGCTTTGGGGCAACGTGCACTTACTCTGTTAAACTCCATCCCTGGGACTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGCCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGACTTGCTGTCTCCAGGGTTTATTTCATGTATGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTATGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTATGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGACTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGCCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTACATGGGCAGATTCCTTTTCCCAGAGCACGGAACTTTGGTTTCTCCAAACCCCTAGCCACTGGGTGTGCTCTAGGCTTTGGGGCTTTGCAAAGGTGCAGGCTGGTTGGGAGGGAGGTATCCTTGGGCACACGTCTGGGGGATAATGGGCCGAGGGTGGGGAGATGCAGGCAGAGGGTGGAAGGCAGTGGGGGCAGTGCGGTCGAGGAACCCTGAGCTGGACCCTCTGTGAGCATGGTGTGAACGGGAAGGATGGGAGCCGGGCGTGTAGGACGTTCTGTCCTTTGAGGGAAGCCTTGTAGGACGTCAGAATCGGGGCCTCCACTTCCGTCTCCCTGTGCACAGCTTTCGGATTGGCCTCTGTCCTTCCTCAGAATCCCTCACATGCGTGGGCTGGGGAGGAGCCCCCGCTGAGGCTGCAGGCAGGGCAGGGTAATCAGGATTTGGAGTCAGGCACTGGTCCTGCGGCGTGTCCTTGGGGATGGTGGCGTAGGGGTGGGGACAGAGCCCCAACGTCCCTCCTGTCCTCATCCCAGGCACTGCCACGAGAGGAACCTGGCCGTGAACCCACAGGGGGGCAACACAGGCATGGTGGGTGGCAGCGTCCCCGTCTTTGACGAGATCATCCTCTCCACTGCCCGCATGAACCGGGTCCTCAGCTTCCACAGCGTGTCTGGTAAGCCTGTGCCACCCGTCGGGGCCCAGGAGTCCCTCCTGGTGCTGGTGGAGTTCTTCCTTGCCAGCGTCTGCAACTGTGGGGTGCTTGGGTGGGTGAATGAGTTAGGGCCGGCGCTGGGGAAAGAACCAGCGTCTGTAGCCTGGCCGCCTAGCCCCACCTCGCCCGGCCCCTCCAGACATGCGTGCTGGTGAGGGCTTGTCATTCTGGTCCCTTCCGACTCCATCCCGCTCTAGAGGTGTGTGAGGTGCAGAGTGGCATGTGTGAGGGGATCCTGACCCAGGGTGCCAGGGCGTGGCAGGCATGAGGGGATCCTGACCCAGGGCGCCAGGGCGTGGCAGGCGTGAGGGGATCCTGACCCAGGGCGCCAGGGCGTGGCAGGCGTGAGGGGATCCTGACCCAGGGCGCCAGAGCGTGGCAGGCATGAGGGGATCCTGACCCAGGGCGCCAGGGCGTGGCAGGCGTGAGGGGATCCTGACCCAGGGCGCCAGGGCGTGGCAGGCGTGAGGGGATCCTGACCCAGGGTGCCAGGGCGTGGCAGGCATGAGGGGATCCTGACCCAGGGCGCCAGGGTCCTGCTCTGGAGCTGGGCCTCTCCCCGCAAGGCCGGGCTCCAGGCCCCGGTCACTCTGTGGTCGGGCGCCTGCACTGTTGGGTGTTGAGCAGCATCCTTGGCCTCCGCCTACAAGGTGCCCATGGCACCCCCAACCCAGGCATTGTCCCACATGCCCAGGGCAGGATCAGCCCCAGCTGAGAATCTTCCCTCTTCTACTCCTTTCCACGAGTGTGTGTGGGGGTGGGAAGTTTTTTCCTCTCTTTTCATGTTACTCATTTTTTTTTTGTGTCACCATAATTATAAAGGTCCTGTGAGGCCCAGATGTTTTCGTCCTTGGGCCAGCGATGTGGGGGTGCCTCTTCTCCTCAGCCCTGGCGCTGAGGCTGATGTTCCTTCTGGGTGGCTTGCCTGTGCAAGATGGGGGTTGGGACTCACCAGCCCGGGGGCCCACTGGAAGCCAAGTGCTGCGGCAGCCTGGTCACTCTCTGCAGGAATTCTGGTTTGCCAGGCGGGCTGCGTCCTGGAGGAGCTGAGCCGGTATGTGGAGGAACGGGACTTCATCATGCCGCTGGACTTAGGAGCCAAGGGCAGCTGCCACATCGGGGGAAACGTGGCAACCAACGCTGGAGGCCTGCGGTTTCTTCGATATGGCTCACTGCATGGGACTGTCCTGGGCCTGGAAGTGGTGAGCTGGGGCAGCTGCTTGGTGCAGAGGTCGCCACGGGGTGTCCTCTCACGGCTCTCATGGGCCCACGTGGTGGCACAGGTGCATGGGGCCCCTCGGGGTGGGAGGTCTTGGTTCCTGGCCCTGGGCCCCTCAAGGATGTGTGGGCTACATACACCCCCATCCTGAGGGAGGCCTGGCCCTGCCCTGTCCTCCCACGAGAGGGTGATTTTGTGTCCACTGCCTCGGGGCCACACAGAGAGGATGCAGTTACAGGGGACACCGCCCCGGCAGTGGTGGGCTTCTGGGAGCCGGGTGTGAAGGAAGGCTCATCCAGGGTCAGCTTCGTGACCTTCTGCTGCCCACTGTTCCTCCAGGGCCCCTCTGTTTACCCGCACCCTCACCAGCCGAGTGTCACAGGCAGAGCTCTCTGTCCTGTTTACCCAAGTGGACGAAGCAAACACAAAACCATGCTTTGGTGCCATCCAGTAAATTATGACGCTTCAGTAGCTTTTTTTTCTGGCCAGCCACTGATTATCTTTATTGTAAATTACTTTTTTGCACTCATGAGCTGTGTAGGCCTCCGACTCACAGTACCAGCACACAGGACTCGGAGAGGCCCACAGCTCGGGAGCTTTGATGCCTTATGGCTGGTGGGTCCAGAGGTGGCTGGGTCCTGGGCTGGGCTCACGCCCTACTCCCAGGGAGCCTCCCCACTGCCCCCGACCCCGGGCGTGCCCCCTGGGCAGTGAGCTGCTGTGTGTGGAGGGTGTCACT
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TGCACACTGTGCCCAGTGCCCGGCCCACCACCTCCCATGTGGGACCTAGTTTTGGTTTTTTTGAGATGGCTTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGTTGCGATCATAGCTCACTGCAGCCTTGACCTCCTGGACTCAGATGATTCTCCCTCCTCAGCTTCCCAAATAAGATCACTCTCTGGGGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGCAGTGGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGGGTGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGGAGAGGTTGCAGTGAGCCAGGATCGTGGCACTTCAGCCTGGGCAACAGAGTGAGAGTCCGTCTCCAAAAAAAAAAACTCGCTCTCTGGGGCGAGTGACCACTTGCCTCATCTGCAGCTCCCCCCACGCTGTCTCATAGGATCTTCTTCCTGTCACAGGCTGTAGCAAGGTGCTGCTGAGGCCACGGACGTCGGAGGAGGTGTCCCACATCCTCAGGTGAGGTGGTGGCTCCCGGCTCCCCCAGCCTTCCCTGTTGCCTGTGGGTCATTTCCTCATGGAGCCTGTGGGCAGCTGGGGTGACGCGGTGCGAAGCCAGCCGATGACATCTTGGTTTGTGTGTCTCAGTGTTTGTTCTGTGGTTTTTCGGTGCTATCTCAATGCATCTGTGGTGTGTAATCATTTCCCCCCATTTGGCAATGCCCATGCCCATTTCTTGGCACTGTCTGTAACAGCAAAGCTCCTCCCCCATGAACACACTACAGGGTGGCACTGGTCTCCGGGTGTCCATGACTGTGGACAGTGCTTTAGATCATCCTCAGCAGGTGCTTTGGGGCAACGTGCACTTACTCTGTTAAACTCCATCCCTGGGACTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGCCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGACTTGCTGTCTCCAGGGTTTATTTCATGTATGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTATGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTATGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGACTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGCCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTACATGGGCAGATTCCTTTTCCCAGAGCACGGAACTTTGGTTTCTCCAAACCCCTAGCCACTGGGTGTGCTCTAGGCTTTGGGGCTTTGCAAAGGTGCAGGCTGGTTGGGAGGGAGGTATCCTTGGGCACACGTCTGGGGGATAATGGGCCGAGGGTGGGGAGATGCAGGCAGAGGGTGGAAGGCAGTGGGGGCAGTGCGGTCGAGGAACCCTGAGCTGGACCCTCTGTGAGCATGGTGTGAACGGGAAGGATGGGAGCCGGGCGTGTAGGACGTTCTGTCCTTTGAGGGAAGCCTTGTAGGACGTCAGAATCGGGGCCTCCACTTCCGTCTCCCTGTGCACAGCTTTCGGATTGGCCTCTGTCCTTCCTCAGAATCCCTCACATGCGTGGGCTGGGGAGGAGCCCCCGCTGAGGCTGCAGGCAGGGCAGGGTAATCAGGATTTGGAGTCAGGCACTGGTCCTGCGGCGTGTCCTTGGGGATGGTGGCGTAGGGGTGGGGACAGAGCCCCAACGTCCCTCCTGTCCTCATCCCAGGCACTGCCACGAGAGGAACCTGGCCGTGAACCCACAGGGGGGCAACACAGGCATGGTGGGTGGCAGCGTCCCCGTCTTTGACGAGATCAGCCTCTCCACTGCCCGCATGAACCGGGTCCTCAGCTTCCACAGCGTGTCTGGTAAGCCTGTGCCACCCGTCGGGGCCCAGGAGTCCCTCCTGGTGCTGGTGGAGTTCTTCCTTGCCAGCGTCTGCAACTGTGGGGTGCTTGGGTGGGTGAATGAGTTAGGGCCGGCGCTGGGGAAAGAACCAGCGTCTGTAGCCTGGCCGCCTAGCCCCACCTCGCCCGGCCCCTCCAGACATGCGTGCTGGTGAGGGCTTGTCATTCTGGTCCCTTCCGACTCCATCCCGCTCTAGAGGTGTGTGAGGTGCAGAGTGGCATGTGTGAGGGGATCCTGACCCAGGGTGCCAGGGCGTGGCAGGCATGAGGGGATCCTGACCCAGGGCGCCAGGGCGTGGCAGGCGTGAGGGGATCCTGACCCAGGGCGCCAGGGCGTGGCAGGCGTGAGGGGATCCTGACCCAGGGCGCCAGAGCGTGGCAGGCATGAGGGGATCCTGACCCAGGGCGCCAGGGCGTGGCAGGCGTGAGGGGATCCTGACCCAGGGCGCCAGGGCGTGGCAGGCGTGAGGGGATCCTGACCCAGGGTGCCAGGGCGTGGCAGGCATGAGGGGATCCTGACCCAGGGCGCCAGGGTCCTGCTCTGGAGCTGGGCCTCTCCCCGCAAGGCCGGGCTCCAGGCCCCGGTCACTCTGTGGTCGGGCGCCTGCACTGTTGGGTGTTGAGCAGCATCCTTGGCCTCCGCCTACAAGGTGCCCATGGCACCCCCAACCCAGGCATTGTCCCACATGCCCAGGGCAGGATCAGCCCCAGCTGAGAATCTTCCCTCTTCTACTCCTTTCCACGAGTGTGTGTGGGGGTGGGAAGTTTTTTCCTCTCTTTTCATGTTACTCATTTTTTTTTTGTGTCACCATAATTATAAAGGTCCTGTGAGGCCCAGATGTTTTCGTCCTTGGGCCAGCGATGTGGGGGTGCCTCTTCTCCTCAGCCCTGGCGCTGAGGCTGATGTTCCTTCTGGGTGGCTTGCCTGTGCAAGATGGGGGTTGGGACTCACCAGCCCGGGGGCCCACTGGAAGCCAAGTGCTGCGGCAGCCTGGTCACTCTCTGCAGGAATTCTGGTTTGCCAGGCGGGCTGCGTCCTGGAGGAGCTGAGCCGGTATGTGGAGGAACGGGACTTCATCATGCCGCTGGACTTAGGAGCCAAGGGCAGCTGCCACATCGGGGGAAACGTGGCAACCAACGCTGGAGGCCTGCGGTTTCTTCGATATGGCTCACTGCATGGGACTGTCCTGGGCCTGGAAGTGGTGAGCTGGGGCAGCTGCTTGGTGCAGAGGTCGCCACGGGGTGTCCTCTCACGGCTCTCATGGGCCCACGTGGTGGCACAGGTGCATGGGGCCCCTCGGGGTGGGAGGTCTTGGTTCCTGGCCCTGGGCCCCTCAAGGATGTGTGGGCTACATACACCCCCATCCTGAGGGAGGCCTGGCCCTGCCCTGTCCTCCCACGAGAGGGTGATTTTGTGTCCACTGCCTCGGGGCCACACAGAGAGGATGCAGTTACAGGGGACACCGCCCCGGCAGTGGTGGGCTTCTGGGAGCCGGGTGTGAAGGAAGGCTCATCCAGGGTCAGCTTCGTGACCTTCTGCTGCCCACTGTTCCTCCAGGGCCCCTCTGTTTACCCGCACCCTCACCAGCCGAGTGTCACAGGCAGAGCTCTCTGTCCTGTTTACCCAAGTGGACGAAGCAAACACAAAACCATGCTTTGGTGCCATCCAGTAAATTATGACGCTTCAGTAGCTTTTTTTTCTGGCCAGCCACTGATTATCTTTATTGTAAATTACTTTTTTGCACTCATGAGCTGTGTAGGCCTCCGACTCACAGTACCAGCACACAGGACTCGGAGAGGCCCACAGCTCGGGAGCTTTGATGCCTTATGGCTGGTGGGTCCAGAGGTGGCTGGGTCCTGGGCTGGGCTCACGCCCTACTCCCAGGGAGCCTCCCCACTGCCCCCGACCCCGGGCGTGCCCCCTGGGCAGTGAGCTGCTGTGTGTGGAGGGTGTCACT
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Task1_train_5864
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This mutation is located in gene D2HGDH (D-2-hydroxyglutarate dehydrogenase) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; D-2-hydroxyglutaric aciduria 1
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GCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGTGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGAGAAGCAGGGAGAAGCCAAGGTAGCAGCGGCCCCAGAGGAGGGGTCGGCACGTCCAGGGCGAGTGGCATGAGGGTGAGGCTCAGCCGGGGGTCTCGGGGTTGCTGGGGAGGGGATCTTGGGAGGGGCTGTTGGGGGAGGAGTGGGGTCCTGGGGGCTGCCCTGCCCAGCCTGACCCATGTGCCCTTGTCCCTCCAGGAGATGGTAACCTGCACCTCAATGTGACGGCGGAGGCCTTCAGCCCCTCGCTCCTGGCTGCCCTGGAGCCCCACGTGTACGAGTGGACGGCCGGGCAGCAGGGCAGCGTCAGCGCGGAGCACGGAGTGGGCTTCAGGAAGAGGGACGTCCTGGGCTACAGCAAGCCACCGGGGGCCCTGCAGCTCATGCAGCAGCTCAAGGCCCTGCTGGACCCCAAGGGCATCCTCAACCCCTACAAGACGCTGCCCAGCCAGGCCTGACGGCCACTCCTGCTGCTGCCAAGGCCCACTGGGGGTCGGCGGGTGGCTCTCGGGCGGGGGTGTTGCGGTGGCTCTGAGGGATGAGCCGGCAGTGGGCAGGGGACCAGGCACCTGGTTGAAGGGACTGGGAGCCCGCACTGGGGAACTGCCGGACGCAGGCCCTCGGGCAGGAGCATCTGGCAGAGTGGGGGGCGTGGCAGGCACCCTCCTTTGCAGGGCGAGGTGGGGCCTCTGCAGCCATCCTGGACAGGCCGGGGTGGCGGCAGCTTTGCCCACGTGGAAGCGGGGTGGGTCTCACTTGCGTGGTGGCCCCTGGCCCCATCTTGCCTGCTGCGGCCTGGGGAGCAGGCGCTGGGTGGTGGTTCTGCCTGCTTGCTGCTCGTTCCCCGGGCATGCGTGGGCAGCGGGGGGCATGCGTGGGCAGCAGGGGGCGTGGGCAGCGGGGGCACGGGCAGGACCACGTGGGCCGTGATCGTGGGTTGCCGAGAGGACCTGAGCGCTGCGGCTCTGCTGAATGGAGCCGGGTCCCTCAGGCCGTGGACGCCCTCGGGAGGGGGGTGACTGTGGCTTGTGTCTGGACAGGAATGTGTCATTTCCCACATCTTCTAGAGGGCTGCCAGCTGGGAAGACAGTTATCAGGGCAAGCTGTGCTCTGAGTTTCGGGTTCTGCTCCTACAAAGAACGTGCGGTGCTGCGGGCGAGGGCCCCGGCACGGACAAGGGCCACTGCAGAGTGTGTTTCTGCTCGTCAGCTGCCCTGGGCAGCGGATGGGCTGGGCGATGCAGCTGGATGCACATCTCATTCTGTCATGAATGTCCAGTAAAAATCTGAATTGGTTGCAACCTTCTCTTTGCTTCTGTTACTGGAAAATCATCTTTCAGAGCCCATTGTGAAGGGCCTGTGCATCCCATTCCCACAGCCCCTGGACCACTGGGGCCATAGTGTGGCCGGGCCTGACACTACTGTGACTGTCACTGTGCCTCCTGTCCCCATGCACTGTCTGGTGGCAGCTGAGCTCCCACCGGCTGCACAGGGCAGGCCTGGACATGGAACGGGCAACTCATAACCCTTGGTGGCCCTGGAGGCCCTCAGCAGCTGGGCCTGACCGAGGTGTATCCACGGGCCCCTCCTGTCCCTGTGGGTGTCGAGGACCTCGGATCCTGCTCAGAGGGGGAAACATACCTCTGACCCGCTGCCCTGCAGAGCCCGCCTGCCTAGCCAGGGCCTCTGTGTGGACAGGCCACGTCCTCCTGGTGGAGGTCCTCGGGGGATGGGTGGGGGCCTTGGTCCAGCATGATTTTTTTTTTTTGAGACAGGATCTCACTCTGTCACCCAGGCTGGAGTGCAGGGGTATAGTCACAGCTCAGTGCAGCCTCCACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGAGTACAGGTGTGAGCCATCATGCCCAGATAATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGTTCCGCCTCCCGGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAACTGGGACTACAGGTGTCCACCACCGTGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCTTCTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATCACAGGCATGAGCCACCGCACCCGGCCATGCCCAGATAATTTTTAAATTTTTTTTTTTGTAGAGATG
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GCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGTGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGAGAAGCAGGGAGAAGCCAAGGTAGCAGCGGCCCCAGAGGAGGGGTCGGCACGTCCAGGGCGAGTGGCATGAGGGTGAGGCTCAGCCGGGGGTCTCGGGGTTGCTGGGGAGGGGATCTTGGGAGGGGCTGTTGGGGGAGGAGTGGGGTCCTGGGGGCTGCCCTGCCCAGCCTGACCCATGTGCCCTTGTCCCTCCAGGAGATGGTGACCTGCACCTCAATGTGACGGCGGAGGCCTTCAGCCCCTCGCTCCTGGCTGCCCTGGAGCCCCACGTGTACGAGTGGACGGCCGGGCAGCAGGGCAGCGTCAGCGCGGAGCACGGAGTGGGCTTCAGGAAGAGGGACGTCCTGGGCTACAGCAAGCCACCGGGGGCCCTGCAGCTCATGCAGCAGCTCAAGGCCCTGCTGGACCCCAAGGGCATCCTCAACCCCTACAAGACGCTGCCCAGCCAGGCCTGACGGCCACTCCTGCTGCTGCCAAGGCCCACTGGGGGTCGGCGGGTGGCTCTCGGGCGGGGGTGTTGCGGTGGCTCTGAGGGATGAGCCGGCAGTGGGCAGGGGACCAGGCACCTGGTTGAAGGGACTGGGAGCCCGCACTGGGGAACTGCCGGACGCAGGCCCTCGGGCAGGAGCATCTGGCAGAGTGGGGGGCGTGGCAGGCACCCTCCTTTGCAGGGCGAGGTGGGGCCTCTGCAGCCATCCTGGACAGGCCGGGGTGGCGGCAGCTTTGCCCACGTGGAAGCGGGGTGGGTCTCACTTGCGTGGTGGCCCCTGGCCCCATCTTGCCTGCTGCGGCCTGGGGAGCAGGCGCTGGGTGGTGGTTCTGCCTGCTTGCTGCTCGTTCCCCGGGCATGCGTGGGCAGCGGGGGGCATGCGTGGGCAGCAGGGGGCGTGGGCAGCGGGGGCACGGGCAGGACCACGTGGGCCGTGATCGTGGGTTGCCGAGAGGACCTGAGCGCTGCGGCTCTGCTGAATGGAGCCGGGTCCCTCAGGCCGTGGACGCCCTCGGGAGGGGGGTGACTGTGGCTTGTGTCTGGACAGGAATGTGTCATTTCCCACATCTTCTAGAGGGCTGCCAGCTGGGAAGACAGTTATCAGGGCAAGCTGTGCTCTGAGTTTCGGGTTCTGCTCCTACAAAGAACGTGCGGTGCTGCGGGCGAGGGCCCCGGCACGGACAAGGGCCACTGCAGAGTGTGTTTCTGCTCGTCAGCTGCCCTGGGCAGCGGATGGGCTGGGCGATGCAGCTGGATGCACATCTCATTCTGTCATGAATGTCCAGTAAAAATCTGAATTGGTTGCAACCTTCTCTTTGCTTCTGTTACTGGAAAATCATCTTTCAGAGCCCATTGTGAAGGGCCTGTGCATCCCATTCCCACAGCCCCTGGACCACTGGGGCCATAGTGTGGCCGGGCCTGACACTACTGTGACTGTCACTGTGCCTCCTGTCCCCATGCACTGTCTGGTGGCAGCTGAGCTCCCACCGGCTGCACAGGGCAGGCCTGGACATGGAACGGGCAACTCATAACCCTTGGTGGCCCTGGAGGCCCTCAGCAGCTGGGCCTGACCGAGGTGTATCCACGGGCCCCTCCTGTCCCTGTGGGTGTCGAGGACCTCGGATCCTGCTCAGAGGGGGAAACATACCTCTGACCCGCTGCCCTGCAGAGCCCGCCTGCCTAGCCAGGGCCTCTGTGTGGACAGGCCACGTCCTCCTGGTGGAGGTCCTCGGGGGATGGGTGGGGGCCTTGGTCCAGCATGATTTTTTTTTTTTGAGACAGGATCTCACTCTGTCACCCAGGCTGGAGTGCAGGGGTATAGTCACAGCTCAGTGCAGCCTCCACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGAGTACAGGTGTGAGCCATCATGCCCAGATAATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGTTCCGCCTCCCGGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAACTGGGACTACAGGTGTCCACCACCGTGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCTTCTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATCACAGGCATGAGCCACCGCACCCGGCCATGCCCAGATAATTTTTAAATTTTTTTTTTTGTAGAGATG
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Task1_train_5865
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The gene D2HGDH (D-2-hydroxyglutarate dehydrogenase) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; D-2-hydroxyglutaric aciduria 1
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GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGTGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGAGAAGCAGGGAGAAGCCAAGGTAGCAGCGGCCCCAGAGGAGGGGTCGGCACGTCCAGGGCGAGTGGCATGAGGGTGAGGCTCAGCCGGGGGTCTCGGGGTTGCTGGGGAGGGGATCTTGGGAGGGGCTGTTGGGGGAGGAGTGGGGTCCTGGGGGCTGCCCTGCCCAGCCTGACCCATGTGCCCTTGTCCCTCCAGGAGATGGTAACCTGCACCTCAATGTGACGGCGGAGGCCTTCAGCCCCTCGCTCCTGGCTGCCCTGGAGCCCCACGTGTACGAGTGGACGGCCGGGCAGCAGGGCAGCGTCAGCGCGGAGCACGGAGTGGGCTTCAGGAAGAGGGACGTCCTGGGCTACAGCAAGCCACCGGGGGCCCTGCAGCTCATGCAGCAGCTCAAGGCCCTGCTGGACCCCAAGGGCATCCTCAACCCCTACAAGACGCTGCCCAGCCAGGCCTGACGGCCACTCCTGCTGCTGCCAAGGCCCACTGGGGGTCGGCGGGTGGCTCTCGGGCGGGGGTGTTGCGGTGGCTCTGAGGGATGAGCCGGCAGTGGGCAGGGGACCAGGCACCTGGTTGAAGGGACTGGGAGCCCGCACTGGGGAACTGCCGGACGCAGGCCCTCGGGCAGGAGCATCTGGCAGAGTGGGGGGCGTGGCAGGCACCCTCCTTTGCAGGGCGAGGTGGGGCCTCTGCAGCCATCCTGGACAGGCCGGGGTGGCGGCAGCTTTGCCCACGTGGAAGCGGGGTGGGTCTCACTTGCGTGGTGGCCCCTGGCCCCATCTTGCCTGCTGCGGCCTGGGGAGCAGGCGCTGGGTGGTGGTTCTGCCTGCTTGCTGCTCGTTCCCCGGGCATGCGTGGGCAGCGGGGGGCATGCGTGGGCAGCAGGGGGCGTGGGCAGCGGGGGCACGGGCAGGACCACGTGGGCCGTGATCGTGGGTTGCCGAGAGGACCTGAGCGCTGCGGCTCTGCTGAATGGAGCCGGGTCCCTCAGGCCGTGGACGCCCTCGGGAGGGGGGTGACTGTGGCTTGTGTCTGGACAGGAATGTGTCATTTCCCACATCTTCTAGAGGGCTGCCAGCTGGGAAGACAGTTATCAGGGCAAGCTGTGCTCTGAGTTTCGGGTTCTGCTCCTACAAAGAACGTGCGGTGCTGCGGGCGAGGGCCCCGGCACGGACAAGGGCCACTGCAGAGTGTGTTTCTGCTCGTCAGCTGCCCTGGGCAGCGGATGGGCTGGGCGATGCAGCTGGATGCACATCTCATTCTGTCATGAATGTCCAGTAAAAATCTGAATTGGTTGCAACCTTCTCTTTGCTTCTGTTACTGGAAAATCATCTTTCAGAGCCCATTGTGAAGGGCCTGTGCATCCCATTCCCACAGCCCCTGGACCACTGGGGCCATAGTGTGGCCGGGCCTGACACTACTGTGACTGTCACTGTGCCTCCTGTCCCCATGCACTGTCTGGTGGCAGCTGAGCTCCCACCGGCTGCACAGGGCAGGCCTGGACATGGAACGGGCAACTCATAACCCTTGGTGGCCCTGGAGGCCCTCAGCAGCTGGGCCTGACCGAGGTGTATCCACGGGCCCCTCCTGTCCCTGTGGGTGTCGAGGACCTCGGATCCTGCTCAGAGGGGGAAACATACCTCTGACCCGCTGCCCTGCAGAGCCCGCCTGCCTAGCCAGGGCCTCTGTGTGGACAGGCCACGTCCTCCTGGTGGAGGTCCTCGGGGGATGGGTGGGGGCCTTGGTCCAGCATGATTTTTTTTTTTTGAGACAGGATCTCACTCTGTCACCCAGGCTGGAGTGCAGGGGTATAGTCACAGCTCAGTGCAGCCTCCACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGAGTACAGGTGTGAGCCATCATGCCCAGATAATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGTTCCGCCTCCCGGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAACTGGGACTACAGGTGTCCACCACCGTGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCTTCTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATCACAGGCATGAGCCACCGCACCCGGCCATGCCCAGATAATTTTTAAATTTTTTTTTTTGTAGAGATGAGGTGTCCCTGTGTTG
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GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGTGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGAGAAGCAGGGAGAAGCCAAGGTAGCAGCGGCCCCAGAGGAGGGGTCGGCACGTCCAGGGCGAGTGGCATGAGGGTGAGGCTCAGCCGGGGGTCTCGGGGTTGCTGGGGAGGGGATCTTGGGAGGGGCTGTTGGGGGAGGAGTGGGGTCCTGGGGGCTGCCCTGCCCAGCCTGACCCATGTGCCCTTGTCCCTCCAGGAGATGGTAACCTGCACCTCAATGCGACGGCGGAGGCCTTCAGCCCCTCGCTCCTGGCTGCCCTGGAGCCCCACGTGTACGAGTGGACGGCCGGGCAGCAGGGCAGCGTCAGCGCGGAGCACGGAGTGGGCTTCAGGAAGAGGGACGTCCTGGGCTACAGCAAGCCACCGGGGGCCCTGCAGCTCATGCAGCAGCTCAAGGCCCTGCTGGACCCCAAGGGCATCCTCAACCCCTACAAGACGCTGCCCAGCCAGGCCTGACGGCCACTCCTGCTGCTGCCAAGGCCCACTGGGGGTCGGCGGGTGGCTCTCGGGCGGGGGTGTTGCGGTGGCTCTGAGGGATGAGCCGGCAGTGGGCAGGGGACCAGGCACCTGGTTGAAGGGACTGGGAGCCCGCACTGGGGAACTGCCGGACGCAGGCCCTCGGGCAGGAGCATCTGGCAGAGTGGGGGGCGTGGCAGGCACCCTCCTTTGCAGGGCGAGGTGGGGCCTCTGCAGCCATCCTGGACAGGCCGGGGTGGCGGCAGCTTTGCCCACGTGGAAGCGGGGTGGGTCTCACTTGCGTGGTGGCCCCTGGCCCCATCTTGCCTGCTGCGGCCTGGGGAGCAGGCGCTGGGTGGTGGTTCTGCCTGCTTGCTGCTCGTTCCCCGGGCATGCGTGGGCAGCGGGGGGCATGCGTGGGCAGCAGGGGGCGTGGGCAGCGGGGGCACGGGCAGGACCACGTGGGCCGTGATCGTGGGTTGCCGAGAGGACCTGAGCGCTGCGGCTCTGCTGAATGGAGCCGGGTCCCTCAGGCCGTGGACGCCCTCGGGAGGGGGGTGACTGTGGCTTGTGTCTGGACAGGAATGTGTCATTTCCCACATCTTCTAGAGGGCTGCCAGCTGGGAAGACAGTTATCAGGGCAAGCTGTGCTCTGAGTTTCGGGTTCTGCTCCTACAAAGAACGTGCGGTGCTGCGGGCGAGGGCCCCGGCACGGACAAGGGCCACTGCAGAGTGTGTTTCTGCTCGTCAGCTGCCCTGGGCAGCGGATGGGCTGGGCGATGCAGCTGGATGCACATCTCATTCTGTCATGAATGTCCAGTAAAAATCTGAATTGGTTGCAACCTTCTCTTTGCTTCTGTTACTGGAAAATCATCTTTCAGAGCCCATTGTGAAGGGCCTGTGCATCCCATTCCCACAGCCCCTGGACCACTGGGGCCATAGTGTGGCCGGGCCTGACACTACTGTGACTGTCACTGTGCCTCCTGTCCCCATGCACTGTCTGGTGGCAGCTGAGCTCCCACCGGCTGCACAGGGCAGGCCTGGACATGGAACGGGCAACTCATAACCCTTGGTGGCCCTGGAGGCCCTCAGCAGCTGGGCCTGACCGAGGTGTATCCACGGGCCCCTCCTGTCCCTGTGGGTGTCGAGGACCTCGGATCCTGCTCAGAGGGGGAAACATACCTCTGACCCGCTGCCCTGCAGAGCCCGCCTGCCTAGCCAGGGCCTCTGTGTGGACAGGCCACGTCCTCCTGGTGGAGGTCCTCGGGGGATGGGTGGGGGCCTTGGTCCAGCATGATTTTTTTTTTTTGAGACAGGATCTCACTCTGTCACCCAGGCTGGAGTGCAGGGGTATAGTCACAGCTCAGTGCAGCCTCCACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGAGTACAGGTGTGAGCCATCATGCCCAGATAATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGTTCCGCCTCCCGGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAACTGGGACTACAGGTGTCCACCACCGTGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCTTCTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATCACAGGCATGAGCCACCGCACCCGGCCATGCCCAGATAATTTTTAAATTTTTTTTTTTGTAGAGATGAGGTGTCCCTGTGTTG
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Task1_train_5866
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A variant was discovered in gene TRNT1 (tRNA nucleotidyl transferase 1), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
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TTTGGATCCTGGATTGCTGGGACTGACCTTCTAGTTTTATCTTTTGTCTTTATTTTATATTCTCCTGTCTTACTTTCTATGAGAGTGCCTTAACTTCATCTCCCAGTCATTGTATAATACTGACAACTTCTGTGGTCTTGTAGAATTTCAAGAGGTCTTTCTTAGTATATTTCTTTGGAAAGCTTCCCGTTCATGTTTCAGATGGAAGATCTTTTATTTCTCTTAGGATATCTACTATAGTTATTTTGACAGTGTCTTTGTTTCCTCCGAGTGTTTTCTTTCAGGTTGGCTTTCCTTGAATTTGGGTGATGCTCTGTATCTGAGGGCTTTATTGTAGTTTTGCATGGGAAGTGTCAGCCAACTGGGACTCCCAGTCTAAGTCTCAGTAGGAGTTTTCATTAGGAGAAATCAGAGAAGAATACTCCAGTATTATGCCAGGGAATGAACCTGATTGTTAGCATCTTGAAACCAAGTAGGGAAAGGGATGAGGGTCATGTTAATTTTCACTTGAATCTTGTTTTCATTATGATGCTTCATTCCCATGAGCATCTGTGCCTGGTGCAACAAGTTCTGATTATTTTTGGTTGAACCTTTCTAGAGAATCAGTCCCTGGTTTTCTGCCTCATTAAGGGAGTCATTCTAGGTGGGTCTGATTATTTCTTAAAATGAGTTGCAAACAGTTTTCCTATTTCAAACCTTACCTTATTCTTTGCCTTCAGAGATACTTGTGCCTCAAATTCTTGAGTTCTGGAATTCTATAGTGAGAGATAGATGTAGCTTGTATTTAGAGAAGAGTATGTATCAAATTGAGAGAAATCCTACAACAGACTTCTGGTGATCGTTAACGGCTTTCACTTCCTAAATAAAGACATTCCTAACTCTTGGCACATAAAACACTTTATTCTCTACTCCTAAATGCTAATATGCTACCTGTCAGATATACTTTCTCTTTTACATATATTCCTCTTCCTCCACCGTGCCTTTGGTCATCTCTTCTCTTCATTTGAAGTTTTTCTACCACACCTGCATGTACAAACCCTGCTGCTTTTTCAAGGCTTGGCACAGACGCCACCCTAACATGAAGTTACTCAGCTTCCCCAGCTGGAGGTAGTCTGTCTTCCCAAGATAGAGGTAACTCTTTATTTTAATTTCTTTCTTTCTCTTTTGAGACAGGGTCTCACTCTGTTGCCTAGGCTGGAGTGCACAGTGTGATCTCGACTCACTGCAGCCTCTGCCTCCCGGGGTCTAGCGATCCTCCCACCTCAGCCTCCCAGGTAGCTAGGACCACAGGCATGCACCACCACACCTGGCTGGTTTTTTTGTATGTTTGGTAGAGATGGGGTTTTACCATCTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAAGTCATCTGCCTGCCTTGACCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCCCCAGCCTTTATTTTAATTTCACTGGGGATTATCAGTAAGGGAGTTGCAAGATCTGTTAACTGTACTTATTCTTTATCAGTCTTTCGCTCAATGGCAAATGTTCCATAAATTGACATTCACCTCTTTGCAAACTGGAGCTATTAAAAATATTTCTGATAATAGCTTGATTTGAAATTGAAGAACAGTTTTGAGTTTGATGTGGAGTTTCTCCACATCACTTGGCAGAGGTGACATGTTTGTGTGTTAAACTCATCTTTTTTAATCATGATGGATTTTTTTTAAAAAAATCAGTCTTTTGATCTGTTTTTGAATAATGTGGATATCTTTCTGTTTCAATGTTTAGGTATGGTAGTTGACGTTAAAAAGACTATAACTGTCAGGGCTTATAGTACCATCCCTTTATAAAGACAAAAACTTATTTTTTTCAATTCAGTAGTATGAAAACCTAATTTAAATGACAACAAAAACCCCATGTATTTAATTGCAGCTTCATGAAGAAAATTTTGAGATTACTACACTACGGATTGATGTCACCACTGATGGAAGACATGCTGAGGTAGAATTTACAACTGACTGGCAGAAAGATGCGGAACGCAGAGATCTCACTATAAATTCTATGTTTTTAGGTAATATTTGCAGATAAAACCATATTGTGAGTCTATCAGAATGCCTTCTTTTCAAGTAAAACCTACATTCTGGAAATGTTCTTCAACTTGAGAAGTTGCATTAATTTCTTCTAAGAGATGGTTTAGCAGATTGCTTCAAAGAATAGTCCCTCAGCCGGGCACGGTGGGTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCATGGGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATATAAAAAATTAGCCGGGCGTGGTGGCGGCTGCCTGTAGTCCCAGCTGTTAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGTCTGGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAGAATAGACTCTGGAGCCAAAATCCCTGGGTTCAAATTCTGACTCCGTCACTCACTAGCCACAAAACAAAAACGTTAATTAATATTGGCTTCCTTTGTACCGCTGTTGTGAGGTTTAAGAGAGTTAATTGTAAATGCTTAGAACAGTGCCTGACACATGTACACACTCAGTCAGTGCTAACTTCTTAACTGCATATAAACATGATTTCAGGGAAGAGAAGTGCACACACACATGGTACATGTACATACTCCACACACATCTACACACACACACACCCAGGATCATTCTTTTTCCTTTGCACTATCTTTCATGCATGTTTATTCAATCTTTCTTCTGCTTCCCTGGCAAACAATGGTGAATGACTTCAGCACTTTTTACTGCTGAGCCTACACACAACCTCAGATTCTTTTTTAGCATTGTATTCTAGGAATCATCAATAATCAGAGTTGGTATGTAAGATGAAACCTATTTATTTCAGCTTAACTTTTTTGTTTAATGAAAGCACTGGGAATTATATGGGGGCTAGATACGAATTAGGTTAGTGTTTTGATACATTACTGATGCATCATATGTTGTACTTTAAAGTTAAGACAAGCCCTTTATGTTTAAGATTTTGGATTAAAAAAGGATGAAACATCCACTGTTCATAACCTAGTTTGTAGCAATAGTAGTGGTAAAAGGATGAAGTAATAGGATTTGCTTCATGCATAGATGGGCAAGAAGTTTATAAGCTAAGGTGGCATCTCTTGCTGATTACAGTAATGACAGATACAATTTCTAGGGTACCTACTGGGTTCTAGGTACAACATTGGGTACCTGATATACTTTATTTCATTAAACTCTCAGAAAAACTTCATAAAGTATGTTAAGCCCACTTGATAGAAGAGGAAACTTGAGACTGAGAGATATTAAGTAACTTAGTTTAAGTCACAGAGAACCATGATTTTGGCTTGTTTCCAAGGCCTAGGCAATATATGACCATAGAGAGCCCAATTGGTGCATTTTTCTCTCAGTTAATGTAGTCAGAGCTCCAGGTATTTATTTATTCTCATATTTACTCATAGAGGAAGCTGCTCCAAATAGTGCAATATAGAGTCTTGTCTAACTGGCTTCTCATAAGCATACTGAAAGAGAGAAACTAATACTCTTTTTCAGTGTCCTAGTTTATAAAATAAAAGTTGTTCCTATTGGTACTATCATTTTCTGACATTTACTGAACCCTTATAACATGTCAGGCACTGTTCTGAGCACATTATGTAAATTTAATCTCCTGACAACCCTGCGAAGCAGATACTGCTATTTAACCGATGGTAACTTGCCCAAAGTTGCACAGCTTGTAAAGTGTAGGATCAGAATTCCAACTCAGGCAGCCTGACTCCAGAGGTCACATTCTTAACCACTACATTATTCCCTGCAACTCAACCATATTTCATATTTTTATTTACTGTATTTTAAAAGGATGATATTCAGAGCAAAACAAAATACACACCAGTATGATGCTTACTAAGCTTTGTGTAGTTTTCTATCCTGGCTTTTTCCAAGCCTTATTGGATCAAGCATTCATAGTTCTGGCATTTATGGTTGGTTACTTTGCTT
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TTTGGATCCTGGATTGCTGGGACTGACCTTCTAGTTTTATCTTTTGTCTTTATTTTATATTCTCCTGTCTTACTTTCTATGAGAGTGCCTTAACTTCATCTCCCAGTCATTGTATAATACTGACAACTTCTGTGGTCTTGTAGAATTTCAAGAGGTCTTTCTTAGTATATTTCTTTGGAAAGCTTCCCGTTCATGTTTCAGATGGAAGATCTTTTATTTCTCTTAGGATATCTACTATAGTTATTTTGACAGTGTCTTTGTTTCCTCCGAGTGTTTTCTTTCAGGTTGGCTTTCCTTGAATTTGGGTGATGCTCTGTATCTGAGGGCTTTATTGTAGTTTTGCATGGGAAGTGTCAGCCAACTGGGACTCCCAGTCTAAGTCTCAGTAGGAGTTTTCATTAGGAGAAATCAGAGAAGAATACTCCAGTATTATGCCAGGGAATGAACCTGATTGTTAGCATCTTGAAACCAAGTAGGGAAAGGGATGAGGGTCATGTTAATTTTCACTTGAATCTTGTTTTCATTATGATGCTTCATTCCCATGAGCATCTGTGCCTGGTGCAACAAGTTCTGATTATTTTTGGTTGAACCTTTCTAGAGAATCAGTCCCTGGTTTTCTGCCTCATTAAGGGAGTCATTCTAGGTGGGTCTGATTATTTCTTAAAATGAGTTGCAAACAGTTTTCCTATTTCAAACCTTACCTTATTCTTTGCCTTCAGAGATACTTGTGCCTCAAATTCTTGAGTTCTGGAATTCTATAGTGAGAGATAGATGTAGCTTGTATTTAGAGAAGAGTATGTATCAAATTGAGAGAAATCCTACAACAGACTTCTGGTGATCGTTAACGGCTTTCACTTCCTAAATAAAGACATTCCTAACTCTTGGCACATAAAACACTTTATTCTCTACTCCTAAATGCTAATATGCTACCTGTCAGATATACTTTCTCTTTTACATATATTCCTCTTCCTCCACCGTGCCTTTGGTCATCTCTTCTCTTCATTTGAAGTTTTTCTACCACACCTGCATGTACAAACCCTGCTGCTTTTTCAAGGCTTGGCACAGACGCCACCCTAACATGAAGTTACTCAGCTTCCCCAGCTGGAGGTAGTCTGTCTTCCCAAGATAGAGGTAACTCTTTATTTTAATTTCTTTCTTTCTCTTTTGAGACAGGGTCTCACTCTGTTGCCTAGGCTGGAGTGCACAGTGTGATCTCGACTCACTGCAGCCTCTGCCTCCCGGGGTCTAGCGATCCTCCCACCTCAGCCTCCCAGGTAGCTAGGACCACAGGCATGCACCACCACACCTGGCTGGTTTTTTTGTATGTTTGGTAGAGATGGGGTTTTACCATCTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAAGTCATCTGCCTGCCTTGACCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCCCCAGCCTTTATTTTAATTTCACTGGGGATTATCAGTAAGGGAGTTGCAAGATCTGTTAACTGTACTTATTCTTTATCAGTCTTTCGCTCAATGGCAAATGTTCCATAAATTGACATTCACCTCTTTGCAAACTGGAGCTATTAAAAATATTTCTGATAATAGCTTGATTTGAAATTGAAGAACAGTTTTGAGTTTGATGTGGAGTTTCTCCACATCACTTGGCAGAGGTGACATGTTTGTGTGTTAAACTCATCTTTTTTAATCATGATGGATTTTTTTTAAAAAAATCAGTCTTTTGATCTGTTTTTGAATAATGTGGATATCTTTCTGTTTCAATGTTTAGGTATGGTAGTTGACGTTAAAAAGACTATAACTGTCAGGGCTTATAGTACCATCCCTTTATAAAGACAAAAACTTATTTTTTTCAATTCAGTAGTATGAAAACCTAATTTAAATGACAACAAAAACCCCATGTATTTAATTGCAGCTTCATGAAGAAAATTTTGAGATTACTACACTACGGATTGATGTCACCACTGATGGAAGACATGCTGAGGTAGAATTTACAACTGACTGGCAGAAAGATGCGGAACGCAGAGATCTCATTATAAATTCTATGTTTTTAGGTAATATTTGCAGATAAAACCATATTGTGAGTCTATCAGAATGCCTTCTTTTCAAGTAAAACCTACATTCTGGAAATGTTCTTCAACTTGAGAAGTTGCATTAATTTCTTCTAAGAGATGGTTTAGCAGATTGCTTCAAAGAATAGTCCCTCAGCCGGGCACGGTGGGTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCATGGGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATATAAAAAATTAGCCGGGCGTGGTGGCGGCTGCCTGTAGTCCCAGCTGTTAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGTCTGGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAGAATAGACTCTGGAGCCAAAATCCCTGGGTTCAAATTCTGACTCCGTCACTCACTAGCCACAAAACAAAAACGTTAATTAATATTGGCTTCCTTTGTACCGCTGTTGTGAGGTTTAAGAGAGTTAATTGTAAATGCTTAGAACAGTGCCTGACACATGTACACACTCAGTCAGTGCTAACTTCTTAACTGCATATAAACATGATTTCAGGGAAGAGAAGTGCACACACACATGGTACATGTACATACTCCACACACATCTACACACACACACACCCAGGATCATTCTTTTTCCTTTGCACTATCTTTCATGCATGTTTATTCAATCTTTCTTCTGCTTCCCTGGCAAACAATGGTGAATGACTTCAGCACTTTTTACTGCTGAGCCTACACACAACCTCAGATTCTTTTTTAGCATTGTATTCTAGGAATCATCAATAATCAGAGTTGGTATGTAAGATGAAACCTATTTATTTCAGCTTAACTTTTTTGTTTAATGAAAGCACTGGGAATTATATGGGGGCTAGATACGAATTAGGTTAGTGTTTTGATACATTACTGATGCATCATATGTTGTACTTTAAAGTTAAGACAAGCCCTTTATGTTTAAGATTTTGGATTAAAAAAGGATGAAACATCCACTGTTCATAACCTAGTTTGTAGCAATAGTAGTGGTAAAAGGATGAAGTAATAGGATTTGCTTCATGCATAGATGGGCAAGAAGTTTATAAGCTAAGGTGGCATCTCTTGCTGATTACAGTAATGACAGATACAATTTCTAGGGTACCTACTGGGTTCTAGGTACAACATTGGGTACCTGATATACTTTATTTCATTAAACTCTCAGAAAAACTTCATAAAGTATGTTAAGCCCACTTGATAGAAGAGGAAACTTGAGACTGAGAGATATTAAGTAACTTAGTTTAAGTCACAGAGAACCATGATTTTGGCTTGTTTCCAAGGCCTAGGCAATATATGACCATAGAGAGCCCAATTGGTGCATTTTTCTCTCAGTTAATGTAGTCAGAGCTCCAGGTATTTATTTATTCTCATATTTACTCATAGAGGAAGCTGCTCCAAATAGTGCAATATAGAGTCTTGTCTAACTGGCTTCTCATAAGCATACTGAAAGAGAGAAACTAATACTCTTTTTCAGTGTCCTAGTTTATAAAATAAAAGTTGTTCCTATTGGTACTATCATTTTCTGACATTTACTGAACCCTTATAACATGTCAGGCACTGTTCTGAGCACATTATGTAAATTTAATCTCCTGACAACCCTGCGAAGCAGATACTGCTATTTAACCGATGGTAACTTGCCCAAAGTTGCACAGCTTGTAAAGTGTAGGATCAGAATTCCAACTCAGGCAGCCTGACTCCAGAGGTCACATTCTTAACCACTACATTATTCCCTGCAACTCAACCATATTTCATATTTTTATTTACTGTATTTTAAAAGGATGATATTCAGAGCAAAACAAAATACACACCAGTATGATGCTTACTAAGCTTTGTGTAGTTTTCTATCCTGGCTTTTTCCAAGCCTTATTGGATCAAGCATTCATAGTTCTGGCATTTATGGTTGGTTACTTTGCTT
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Task1_train_5867
|
An alteration has been detected in TRNT1 (tRNA nucleotidyl transferase 1) on Chromosome 3. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
|
GCAAAACAAAATACACACCAGTATGATGCTTACTAAGCTTTGTGTAGTTTTCTATCCTGGCTTTTTCCAAGCCTTATTGGATCAAGCATTCATAGTTCTGGCATTTATGGTTGGTTACTTTGCTTCCCAAACGCTTATTTTTGCTTTGATCATATTCCTATGATTTTTTCCTCCAAATTTTGATCTTGCCTTTAGGTTCCCCAGGGACGGTTACAAGTCTCTTCATTAGGAGAAATAACACCAAGATGGATATACCATATTATTTGCTACTTTGTGATCATATTTTTGCCTATTTACATATTTTCTTTTTATCATTTTCTTTTATGTCTTTTTGAATCTGGAGCCTTCGAAATTTGCCATGTATGTCAAGATGGTTCCCTTTTAAAAGTTACTATGCATATAAAACTATTAACAGCTTGGAAAGAGTTAAGCATTAAGTGTGAACTTACCAATGTACTGTTGCTTTTGGGATAATCAGAGAACATTCAAGTTCAAACACAGCCAAGAGGTATTTTTGATAAGTAGTTGTCAGTGCCTCTTTTCTGTAATGCTACAGAGTGAAGTATCTCATAGATCACTGACCTCCCCATTTGGTGAGCTGAATGGTGTCTGTGTTTCGGCTCTAAATTCCTTTTTCTATTTTTTTAAGTCTCCATGGTAACCAACTGTCTTAGTTTGCCTGAGCTTGAAATACTTCCTTGGATGTATGATTTTCAACTTTAAAACTAGGAATGTCTCAGGCAAACCAGTATGAAGTGGTCACTCTACTAATTAATACTTGAGGTTTTATGTACATATATATAAAATTAGTTTTATGTCACTTTTTTCATTCAACATATGAGAACATTTGTTTATTACCATTTTTGTGAATGGCTAATAGATTAACATGGTTCAAAATTCACAAAGTTTTAAAGGCTCTACAGTGAAGTCTCCTGATCTGTAATGAACAGGACTGCCCATTTAACCACACCCTTGCTAACACTGTTATCAAGTGTTTGCATCGTTGCCGATCTGAAAGACGCTATCTTGGAAATGGGTATTTACTGGCCGGGCATGGTGGCTTATGCCTGTAACCCTAGCACTTTGGGAGGCTGAGGCATGCAGATCACTTGATGTCAGGAGTTCGAGACCAGCCTGGCCCACTTGCCGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGTGTGTAGTGGCAGGTCTACTTGGGAGGCTGAAGCAGGAGAATCACCTGAACCTGGGAGGCTGCAGTGAGCTGAGATTGCACCACTGCACTCCAACCAGGGTGACAAAGTGAGAATCCGCCTCAAAGAACAAAAAAAGGATTTATGACTAAGGTTGAAAATCTTCATTATTAAAGAGATTTCTATATTTCCTTTATAGGTAGCCTATTTTTCTATTTACGTGGCCTTTTTATTAGAACTTTTATATATTATGGAAATTAGCCATTTTTAAAATATGGACTTACATATATTTTTCCAAAAATGTCACTTATGACTTTGTGTGTGATAGTAGTTTCTGCCATACAGGCATATTTCATTTTTTATGTCATTCAATTATTTCTTCGAAAATCCTGTTGTTTTTGTGTTGCGTTTTCTGTTTTCTTGCTGAGTTTGAAAGATCTTCAAGATTATAAAGATTCCAAGATTAAAAATATTTTCCTCGTTTCTTCTGTTAATCCTGTTACGTATTTTTTCCATTTTATTTTGGCTATTATTTTCCCATATTGTGAAAATTAGCTTGTATGGTGTCTTGTTGGCTCCACTCCACCTCATACAAGTTTTGCATATTTCTTGTTTAGTTTATTCTTGGATTATCTTTTTAGTTGCAATTGTAAATGCAGCTAAACAGACTAAAAGACAGTCTTTTATTGTCTTCCATTTGATAGTTGATATGTATGAATACGTATGTGTTTTAATAACTGTTCACTCTGCTGAATTTTTACTGTTTGTGATAGTGTTTAGCTGATTTTCTTGTGTTTTCAAATTCTTATTTGCCAATAGTGATTTTTCTCCCTCCTTTTCTAATGAATAGGTTTTGATGGCACTTTATTTGACTACTTTAATGGTTATGAAGATTTAAAAAATAAGAAAGTTAGATTTGTTGGACATGCTAAACAGAGAATACAAGAGGATTATCTTAGAATTTTAAGATACTTCAGGTAAGAATTTTTAAAAATAAAAAATGATAGTTTTAATATCATGACTAGAGCATAACAGTGGTCATACGAAACCCACAGCAGGTCAGTGTACAAAATGGTGACATCCCAAATGTCTGTCTCCAGTGGAGACCTAGCACCCTATGACTTATGAGTGAAAATTACTTAGCTACTTCATATTGTATTTTCATTCCCAGAACGCACATATACTTTATGTCATCTTTCCTACAATTTTAAGTCATCTTTTTAAATGTCCATTTTTCTTTTTGATTGATATTTCCTCCATTGATTTATTAATTACACAGATGTTTGAATGCTTACCACAGGTCAATCCCTGTGTTAGGTGCATTAAACGTGGTAATGAACGAGTGAAAGTGTTCGCCTTCATACAGCTTACGGTTTTAGGTAGTCATGGAAATCGGTGATGGTTCACAACAAAATGATTTTGGTGAAAAGAAATACCTGTTATATGATTTAAAGAATCAAAGCATAAAGACATAATCGAAACTTGGATGGGCCGGGTGTGGTGGCTCACACCTGTAATCCCCGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATGAGACCATGCTGGCTAACATGGTGAAACCCCATTTCTACTAAAAATACAAAAAATTAGCCAGGCATGGCGGTGTGCGCCTGTAGTCCGAGCTACTCGGGAGGCTGAGGCAGGAGGATGGCGGGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACCGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGAAGATCTTGGATAAACTTGGTAAATATGAAACGCATGACTAGTTTTGTGGGTAGCAATGATGTTTAAATGTCACACACTAACCTTTTTAAAAAACTATCCGAATTGGCTAGTTTATGTCAAGTAATATTCATTTTTCACTGGTTGGGATTGCTCTCAGAATATTCTATAACAGAACATGGATATTTTGTCAATGTAGTTTCTCTAAACTTGAGTATTTGTAGTCTGTCTTATAAATAATAGAACATAGATTAAGACTTAGCTGTATTTGTATCACTAATCCAGATTTAGCATTAATTTACTTATTTAGCATCACTTTGGACCGCTGATGAATTCATTAGAATTTTAAGGGCATGAGAGGGAAACACATGCACGTTAGGGCTTCCAGTTCTAAGATTCCGCGAAATATACTCCAGGGTGCGCAACTAGATGAGTCGTATTTGAAGGTTTTCCTTGAAAGTACTAATGTGTACAGACAGGCAAGCTTTGAGGAATTCAGACTACTCTGTTAAGGCACTGCAGTCTTGTTTTGGTTTGCTGCCTTTACAAGAATGCTGTTTTTTTTTTCATCTAGTATAAGTGCCAATTCAGGAATTGCATTTGATGACCATTCGGAATGTCTTGAGTCAGTAATTTGGAAGTGAGGTGGAGACCTTGAAGTTTTAGTTCTTGCTAACCTCAAAAAGGCTACTTATATTTTATTCGATCCTGGGTTTTCTTATCTGGGAAAAGAAAGAGGAGGTGGAGAAATGACCAGTTGCTTTCTAAGGTCCCTTCTAGACCTAACTAATTATATGTTGTTTTCATTAAGCAGATGTATGGGATAGTACCAATAAAAATGAAAAACAGATTTTGCTTGTGATATGCCAATATAGAGGTAATACCCTGTGAAGATTTTGTCTTGTAGGTTTTATGGGAGAATTGTAGACAAACCTGGTGACCATGATCCTGAGACTTTGGAAGCAATTGCAGAAAATGCAAAAGGCTTGGCTGGAATATCAGGAGAAAGGATTTGGGTGGAACTGAAAAAAATTCTTGTTGGTAACCATGTAAATCATTTGATTCACCTTATCTATGATCTTGATGTGGCTCCTTATATAGGTGAGAGCAAGTTATAAAGTGTT
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GCAAAACAAAATACACACCAGTATGATGCTTACTAAGCTTTGTGTAGTTTTCTATCCTGGCTTTTTCCAAGCCTTATTGGATCAAGCATTCATAGTTCTGGCATTTATGGTTGGTTACTTTGCTTCCCAAACGCTTATTTTTGCTTTGATCATATTCCTATGATTTTTTCCTCCAAATTTTGATCTTGCCTTTAGGTTCCCCAGGGACGGTTACAAGTCTCTTCATTAGGAGAAATAACACCAAGATGGATATACCATATTATTTGCTACTTTGTGATCATATTTTTGCCTATTTACATATTTTCTTTTTATCATTTTCTTTTATGTCTTTTTGAATCTGGAGCCTTCGAAATTTGCCATGTATGTCAAGATGGTTCCCTTTTAAAAGTTACTATGCATATAAAACTATTAACAGCTTGGAAAGAGTTAAGCATTAAGTGTGAACTTACCAATGTACTGTTGCTTTTGGGATAATCAGAGAACATTCAAGTTCAAACACAGCCAAGAGGTATTTTTGATAAGTAGTTGTCAGTGCCTCTTTTCTGTAATGCTACAGAGTGAAGTATCTCATAGATCACTGACCTCCCCATTTGGTGAGCTGAATGGTGTCTGTGTTTCGGCTCTAAATTCCTTTTTCTATTTTTTTAAGTCTCCATGGTAACCAACTGTCTTAGTTTGCCTGAGCTTGAAATACTTCCTTGGATGTATGATTTTCAACTTTAAAACTAGGAATGTCTCAGGCAAACCAGTATGAAGTGGTCACTCTACTAATTAATACTTGAGGTTTTATGTACATATATATAAAATTAGTTTTATGTCACTTTTTTCATTCAACATATGAGAACATTTGTTTATTACCATTTTTGTGAATGGCTAATAGATTAACATGGTTCAAAATTCACAAAGTTTTAAAGGCTCTACAGTGAAGTCTCCTGATCTGTAATGAACAGGACTGCCCATTTAACCACACCCTTGCTAACACTGTTATCAAGTGTTTGCATCGTTGCCGATCTGAAAGACGCTATCTTGGAAATGGGTATTTACTGGCCGGGCATGGTGGCTTATGCCTGTAACCCTAGCACTTTGGGAGGCTGAGGCATGCAGATCACTTGATGTCAGGAGTTCGAGACCAGCCTGGCCCACTTGCCGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGTGTGTAGTGGCAGGTCTACTTGGGAGGCTGAAGCAGGAGAATCACCTGAACCTGGGAGGCTGCAGTGAGCTGAGATTGCACCACTGCACTCCAACCAGGGTGACAAAGTGAGAATCCGCCTCAAAGAACAAAAAAAGGATTTATGACTAAGGTTGAAAATCTTCATTATTAAAGAGATTTCTATATTTCCTTTATAGGTAGCCTATTTTTCTATTTACGTGGCCTTTTTATTAGAACTTTTATATATTATGGAAATTAGCCATTTTTAAAATATGGACTTACATATATTTTTCCAAAAATGTCACTTATGACTTTGTGTGTGATAGTAGTTTCTGCCATACAGGCATATTTCATTTTTTATGTCATTCAATTATTTCTTCGAAAATCCTGTTGTTTTTGTGTTGCGTTTTCTGTTTTCTTGCTGAGTTTGAAAGATCTTCAAGATTATAAAGATTCCAAGATTAAAAATATTTTCCTCGTTTCTTCTGTTAATCCTGTTACGTATTTTTTCCATTTTATTTTGGCTATTATTTTCCCATATTGTGAAAATTAGCTTGTATGGTGTCTTGTTGGCTCCACTCCACCTCATACAAGTTTTGCATATTTCTTGTTTAGTTTATTCTTGGATTATCTTTTTAGTTGCAATTGTAAATGCAGCTAAACAGACTAAAAGACAGTCTTTTATTGTCTTCCATTTGATAGTTGATATGTATGAATACGTATGTGTTTTAATAACTGTTCACTCTGCTGAATTTTTACTGTTTGTGATAGTGTTTAGCTGATTTTCTTGTGTTTTCAAATTCTTATTTGCCAATAGTGATTTTTCTCCCTCCTTTTCTAATGAATAGGTTTTGATGGCACTTCATTTGACTACTTTAATGGTTATGAAGATTTAAAAAATAAGAAAGTTAGATTTGTTGGACATGCTAAACAGAGAATACAAGAGGATTATCTTAGAATTTTAAGATACTTCAGGTAAGAATTTTTAAAAATAAAAAATGATAGTTTTAATATCATGACTAGAGCATAACAGTGGTCATACGAAACCCACAGCAGGTCAGTGTACAAAATGGTGACATCCCAAATGTCTGTCTCCAGTGGAGACCTAGCACCCTATGACTTATGAGTGAAAATTACTTAGCTACTTCATATTGTATTTTCATTCCCAGAACGCACATATACTTTATGTCATCTTTCCTACAATTTTAAGTCATCTTTTTAAATGTCCATTTTTCTTTTTGATTGATATTTCCTCCATTGATTTATTAATTACACAGATGTTTGAATGCTTACCACAGGTCAATCCCTGTGTTAGGTGCATTAAACGTGGTAATGAACGAGTGAAAGTGTTCGCCTTCATACAGCTTACGGTTTTAGGTAGTCATGGAAATCGGTGATGGTTCACAACAAAATGATTTTGGTGAAAAGAAATACCTGTTATATGATTTAAAGAATCAAAGCATAAAGACATAATCGAAACTTGGATGGGCCGGGTGTGGTGGCTCACACCTGTAATCCCCGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATGAGACCATGCTGGCTAACATGGTGAAACCCCATTTCTACTAAAAATACAAAAAATTAGCCAGGCATGGCGGTGTGCGCCTGTAGTCCGAGCTACTCGGGAGGCTGAGGCAGGAGGATGGCGGGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACCGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGAAGATCTTGGATAAACTTGGTAAATATGAAACGCATGACTAGTTTTGTGGGTAGCAATGATGTTTAAATGTCACACACTAACCTTTTTAAAAAACTATCCGAATTGGCTAGTTTATGTCAAGTAATATTCATTTTTCACTGGTTGGGATTGCTCTCAGAATATTCTATAACAGAACATGGATATTTTGTCAATGTAGTTTCTCTAAACTTGAGTATTTGTAGTCTGTCTTATAAATAATAGAACATAGATTAAGACTTAGCTGTATTTGTATCACTAATCCAGATTTAGCATTAATTTACTTATTTAGCATCACTTTGGACCGCTGATGAATTCATTAGAATTTTAAGGGCATGAGAGGGAAACACATGCACGTTAGGGCTTCCAGTTCTAAGATTCCGCGAAATATACTCCAGGGTGCGCAACTAGATGAGTCGTATTTGAAGGTTTTCCTTGAAAGTACTAATGTGTACAGACAGGCAAGCTTTGAGGAATTCAGACTACTCTGTTAAGGCACTGCAGTCTTGTTTTGGTTTGCTGCCTTTACAAGAATGCTGTTTTTTTTTTCATCTAGTATAAGTGCCAATTCAGGAATTGCATTTGATGACCATTCGGAATGTCTTGAGTCAGTAATTTGGAAGTGAGGTGGAGACCTTGAAGTTTTAGTTCTTGCTAACCTCAAAAAGGCTACTTATATTTTATTCGATCCTGGGTTTTCTTATCTGGGAAAAGAAAGAGGAGGTGGAGAAATGACCAGTTGCTTTCTAAGGTCCCTTCTAGACCTAACTAATTATATGTTGTTTTCATTAAGCAGATGTATGGGATAGTACCAATAAAAATGAAAAACAGATTTTGCTTGTGATATGCCAATATAGAGGTAATACCCTGTGAAGATTTTGTCTTGTAGGTTTTATGGGAGAATTGTAGACAAACCTGGTGACCATGATCCTGAGACTTTGGAAGCAATTGCAGAAAATGCAAAAGGCTTGGCTGGAATATCAGGAGAAAGGATTTGGGTGGAACTGAAAAAAATTCTTGTTGGTAACCATGTAAATCATTTGATTCACCTTATCTATGATCTTGATGTGGCTCCTTATATAGGTGAGAGCAAGTTATAAAGTGTT
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Task1_train_5868
|
An alteration has been detected in TRNT1 (tRNA nucleotidyl transferase 1) on Chromosome 3. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
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CTTATTGGATCAAGCATTCATAGTTCTGGCATTTATGGTTGGTTACTTTGCTTCCCAAACGCTTATTTTTGCTTTGATCATATTCCTATGATTTTTTCCTCCAAATTTTGATCTTGCCTTTAGGTTCCCCAGGGACGGTTACAAGTCTCTTCATTAGGAGAAATAACACCAAGATGGATATACCATATTATTTGCTACTTTGTGATCATATTTTTGCCTATTTACATATTTTCTTTTTATCATTTTCTTTTATGTCTTTTTGAATCTGGAGCCTTCGAAATTTGCCATGTATGTCAAGATGGTTCCCTTTTAAAAGTTACTATGCATATAAAACTATTAACAGCTTGGAAAGAGTTAAGCATTAAGTGTGAACTTACCAATGTACTGTTGCTTTTGGGATAATCAGAGAACATTCAAGTTCAAACACAGCCAAGAGGTATTTTTGATAAGTAGTTGTCAGTGCCTCTTTTCTGTAATGCTACAGAGTGAAGTATCTCATAGATCACTGACCTCCCCATTTGGTGAGCTGAATGGTGTCTGTGTTTCGGCTCTAAATTCCTTTTTCTATTTTTTTAAGTCTCCATGGTAACCAACTGTCTTAGTTTGCCTGAGCTTGAAATACTTCCTTGGATGTATGATTTTCAACTTTAAAACTAGGAATGTCTCAGGCAAACCAGTATGAAGTGGTCACTCTACTAATTAATACTTGAGGTTTTATGTACATATATATAAAATTAGTTTTATGTCACTTTTTTCATTCAACATATGAGAACATTTGTTTATTACCATTTTTGTGAATGGCTAATAGATTAACATGGTTCAAAATTCACAAAGTTTTAAAGGCTCTACAGTGAAGTCTCCTGATCTGTAATGAACAGGACTGCCCATTTAACCACACCCTTGCTAACACTGTTATCAAGTGTTTGCATCGTTGCCGATCTGAAAGACGCTATCTTGGAAATGGGTATTTACTGGCCGGGCATGGTGGCTTATGCCTGTAACCCTAGCACTTTGGGAGGCTGAGGCATGCAGATCACTTGATGTCAGGAGTTCGAGACCAGCCTGGCCCACTTGCCGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGTGTGTAGTGGCAGGTCTACTTGGGAGGCTGAAGCAGGAGAATCACCTGAACCTGGGAGGCTGCAGTGAGCTGAGATTGCACCACTGCACTCCAACCAGGGTGACAAAGTGAGAATCCGCCTCAAAGAACAAAAAAAGGATTTATGACTAAGGTTGAAAATCTTCATTATTAAAGAGATTTCTATATTTCCTTTATAGGTAGCCTATTTTTCTATTTACGTGGCCTTTTTATTAGAACTTTTATATATTATGGAAATTAGCCATTTTTAAAATATGGACTTACATATATTTTTCCAAAAATGTCACTTATGACTTTGTGTGTGATAGTAGTTTCTGCCATACAGGCATATTTCATTTTTTATGTCATTCAATTATTTCTTCGAAAATCCTGTTGTTTTTGTGTTGCGTTTTCTGTTTTCTTGCTGAGTTTGAAAGATCTTCAAGATTATAAAGATTCCAAGATTAAAAATATTTTCCTCGTTTCTTCTGTTAATCCTGTTACGTATTTTTTCCATTTTATTTTGGCTATTATTTTCCCATATTGTGAAAATTAGCTTGTATGGTGTCTTGTTGGCTCCACTCCACCTCATACAAGTTTTGCATATTTCTTGTTTAGTTTATTCTTGGATTATCTTTTTAGTTGCAATTGTAAATGCAGCTAAACAGACTAAAAGACAGTCTTTTATTGTCTTCCATTTGATAGTTGATATGTATGAATACGTATGTGTTTTAATAACTGTTCACTCTGCTGAATTTTTACTGTTTGTGATAGTGTTTAGCTGATTTTCTTGTGTTTTCAAATTCTTATTTGCCAATAGTGATTTTTCTCCCTCCTTTTCTAATGAATAGGTTTTGATGGCACTTTATTTGACTACTTTAATGGTTATGAAGATTTAAAAAATAAGAAAGTTAGATTTGTTGGACATGCTAAACAGAGAATACAAGAGGATTATCTTAGAATTTTAAGATACTTCAGGTAAGAATTTTTAAAAATAAAAAATGATAGTTTTAATATCATGACTAGAGCATAACAGTGGTCATACGAAACCCACAGCAGGTCAGTGTACAAAATGGTGACATCCCAAATGTCTGTCTCCAGTGGAGACCTAGCACCCTATGACTTATGAGTGAAAATTACTTAGCTACTTCATATTGTATTTTCATTCCCAGAACGCACATATACTTTATGTCATCTTTCCTACAATTTTAAGTCATCTTTTTAAATGTCCATTTTTCTTTTTGATTGATATTTCCTCCATTGATTTATTAATTACACAGATGTTTGAATGCTTACCACAGGTCAATCCCTGTGTTAGGTGCATTAAACGTGGTAATGAACGAGTGAAAGTGTTCGCCTTCATACAGCTTACGGTTTTAGGTAGTCATGGAAATCGGTGATGGTTCACAACAAAATGATTTTGGTGAAAAGAAATACCTGTTATATGATTTAAAGAATCAAAGCATAAAGACATAATCGAAACTTGGATGGGCCGGGTGTGGTGGCTCACACCTGTAATCCCCGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATGAGACCATGCTGGCTAACATGGTGAAACCCCATTTCTACTAAAAATACAAAAAATTAGCCAGGCATGGCGGTGTGCGCCTGTAGTCCGAGCTACTCGGGAGGCTGAGGCAGGAGGATGGCGGGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACCGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGAAGATCTTGGATAAACTTGGTAAATATGAAACGCATGACTAGTTTTGTGGGTAGCAATGATGTTTAAATGTCACACACTAACCTTTTTAAAAAACTATCCGAATTGGCTAGTTTATGTCAAGTAATATTCATTTTTCACTGGTTGGGATTGCTCTCAGAATATTCTATAACAGAACATGGATATTTTGTCAATGTAGTTTCTCTAAACTTGAGTATTTGTAGTCTGTCTTATAAATAATAGAACATAGATTAAGACTTAGCTGTATTTGTATCACTAATCCAGATTTAGCATTAATTTACTTATTTAGCATCACTTTGGACCGCTGATGAATTCATTAGAATTTTAAGGGCATGAGAGGGAAACACATGCACGTTAGGGCTTCCAGTTCTAAGATTCCGCGAAATATACTCCAGGGTGCGCAACTAGATGAGTCGTATTTGAAGGTTTTCCTTGAAAGTACTAATGTGTACAGACAGGCAAGCTTTGAGGAATTCAGACTACTCTGTTAAGGCACTGCAGTCTTGTTTTGGTTTGCTGCCTTTACAAGAATGCTGTTTTTTTTTTCATCTAGTATAAGTGCCAATTCAGGAATTGCATTTGATGACCATTCGGAATGTCTTGAGTCAGTAATTTGGAAGTGAGGTGGAGACCTTGAAGTTTTAGTTCTTGCTAACCTCAAAAAGGCTACTTATATTTTATTCGATCCTGGGTTTTCTTATCTGGGAAAAGAAAGAGGAGGTGGAGAAATGACCAGTTGCTTTCTAAGGTCCCTTCTAGACCTAACTAATTATATGTTGTTTTCATTAAGCAGATGTATGGGATAGTACCAATAAAAATGAAAAACAGATTTTGCTTGTGATATGCCAATATAGAGGTAATACCCTGTGAAGATTTTGTCTTGTAGGTTTTATGGGAGAATTGTAGACAAACCTGGTGACCATGATCCTGAGACTTTGGAAGCAATTGCAGAAAATGCAAAAGGCTTGGCTGGAATATCAGGAGAAAGGATTTGGGTGGAACTGAAAAAAATTCTTGTTGGTAACCATGTAAATCATTTGATTCACCTTATCTATGATCTTGATGTGGCTCCTTATATAGGTGAGAGCAAGTTATAAAGTGTTTGAATTTTTGGCAGTGAAATATCTGGTTTCAAATTTCATAAGGAAAAAATGTTTGACTCATTTGGTTGAAGA
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CTTATTGGATCAAGCATTCATAGTTCTGGCATTTATGGTTGGTTACTTTGCTTCCCAAACGCTTATTTTTGCTTTGATCATATTCCTATGATTTTTTCCTCCAAATTTTGATCTTGCCTTTAGGTTCCCCAGGGACGGTTACAAGTCTCTTCATTAGGAGAAATAACACCAAGATGGATATACCATATTATTTGCTACTTTGTGATCATATTTTTGCCTATTTACATATTTTCTTTTTATCATTTTCTTTTATGTCTTTTTGAATCTGGAGCCTTCGAAATTTGCCATGTATGTCAAGATGGTTCCCTTTTAAAAGTTACTATGCATATAAAACTATTAACAGCTTGGAAAGAGTTAAGCATTAAGTGTGAACTTACCAATGTACTGTTGCTTTTGGGATAATCAGAGAACATTCAAGTTCAAACACAGCCAAGAGGTATTTTTGATAAGTAGTTGTCAGTGCCTCTTTTCTGTAATGCTACAGAGTGAAGTATCTCATAGATCACTGACCTCCCCATTTGGTGAGCTGAATGGTGTCTGTGTTTCGGCTCTAAATTCCTTTTTCTATTTTTTTAAGTCTCCATGGTAACCAACTGTCTTAGTTTGCCTGAGCTTGAAATACTTCCTTGGATGTATGATTTTCAACTTTAAAACTAGGAATGTCTCAGGCAAACCAGTATGAAGTGGTCACTCTACTAATTAATACTTGAGGTTTTATGTACATATATATAAAATTAGTTTTATGTCACTTTTTTCATTCAACATATGAGAACATTTGTTTATTACCATTTTTGTGAATGGCTAATAGATTAACATGGTTCAAAATTCACAAAGTTTTAAAGGCTCTACAGTGAAGTCTCCTGATCTGTAATGAACAGGACTGCCCATTTAACCACACCCTTGCTAACACTGTTATCAAGTGTTTGCATCGTTGCCGATCTGAAAGACGCTATCTTGGAAATGGGTATTTACTGGCCGGGCATGGTGGCTTATGCCTGTAACCCTAGCACTTTGGGAGGCTGAGGCATGCAGATCACTTGATGTCAGGAGTTCGAGACCAGCCTGGCCCACTTGCCGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGTGTGTAGTGGCAGGTCTACTTGGGAGGCTGAAGCAGGAGAATCACCTGAACCTGGGAGGCTGCAGTGAGCTGAGATTGCACCACTGCACTCCAACCAGGGTGACAAAGTGAGAATCCGCCTCAAAGAACAAAAAAAGGATTTATGACTAAGGTTGAAAATCTTCATTATTAAAGAGATTTCTATATTTCCTTTATAGGTAGCCTATTTTTCTATTTACGTGGCCTTTTTATTAGAACTTTTATATATTATGGAAATTAGCCATTTTTAAAATATGGACTTACATATATTTTTCCAAAAATGTCACTTATGACTTTGTGTGTGATAGTAGTTTCTGCCATACAGGCATATTTCATTTTTTATGTCATTCAATTATTTCTTCGAAAATCCTGTTGTTTTTGTGTTGCGTTTTCTGTTTTCTTGCTGAGTTTGAAAGATCTTCAAGATTATAAAGATTCCAAGATTAAAAATATTTTCCTCGTTTCTTCTGTTAATCCTGTTACGTATTTTTTCCATTTTATTTTGGCTATTATTTTCCCATATTGTGAAAATTAGCTTGTATGGTGTCTTGTTGGCTCCACTCCACCTCATACAAGTTTTGCATATTTCTTGTTTAGTTTATTCTTGGATTATCTTTTTAGTTGCAATTGTAAATGCAGCTAAACAGACTAAAAGACAGTCTTTTATTGTCTTCCATTTGATAGTTGATATGTATGAATACGTATGTGTTTTAATAACTGTTCACTCTGCTGAATTTTTACTGTTTGTGATAGTGTTTAGCTGATTTTCTTGTGTTTTCAAATTCTTATTTGCCAATAGTGATTTTTCTCCCTCCTTTTCTAATGAATAGGTTTTGATGGCACTTTATTTGACTACTTTAATGGTTATGAAGATTTAAAAAATAAGAAAGTTAGATTTGTTGGACATGCTAAACAGATAATACAAGAGGATTATCTTAGAATTTTAAGATACTTCAGGTAAGAATTTTTAAAAATAAAAAATGATAGTTTTAATATCATGACTAGAGCATAACAGTGGTCATACGAAACCCACAGCAGGTCAGTGTACAAAATGGTGACATCCCAAATGTCTGTCTCCAGTGGAGACCTAGCACCCTATGACTTATGAGTGAAAATTACTTAGCTACTTCATATTGTATTTTCATTCCCAGAACGCACATATACTTTATGTCATCTTTCCTACAATTTTAAGTCATCTTTTTAAATGTCCATTTTTCTTTTTGATTGATATTTCCTCCATTGATTTATTAATTACACAGATGTTTGAATGCTTACCACAGGTCAATCCCTGTGTTAGGTGCATTAAACGTGGTAATGAACGAGTGAAAGTGTTCGCCTTCATACAGCTTACGGTTTTAGGTAGTCATGGAAATCGGTGATGGTTCACAACAAAATGATTTTGGTGAAAAGAAATACCTGTTATATGATTTAAAGAATCAAAGCATAAAGACATAATCGAAACTTGGATGGGCCGGGTGTGGTGGCTCACACCTGTAATCCCCGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATGAGACCATGCTGGCTAACATGGTGAAACCCCATTTCTACTAAAAATACAAAAAATTAGCCAGGCATGGCGGTGTGCGCCTGTAGTCCGAGCTACTCGGGAGGCTGAGGCAGGAGGATGGCGGGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACCGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGAAGATCTTGGATAAACTTGGTAAATATGAAACGCATGACTAGTTTTGTGGGTAGCAATGATGTTTAAATGTCACACACTAACCTTTTTAAAAAACTATCCGAATTGGCTAGTTTATGTCAAGTAATATTCATTTTTCACTGGTTGGGATTGCTCTCAGAATATTCTATAACAGAACATGGATATTTTGTCAATGTAGTTTCTCTAAACTTGAGTATTTGTAGTCTGTCTTATAAATAATAGAACATAGATTAAGACTTAGCTGTATTTGTATCACTAATCCAGATTTAGCATTAATTTACTTATTTAGCATCACTTTGGACCGCTGATGAATTCATTAGAATTTTAAGGGCATGAGAGGGAAACACATGCACGTTAGGGCTTCCAGTTCTAAGATTCCGCGAAATATACTCCAGGGTGCGCAACTAGATGAGTCGTATTTGAAGGTTTTCCTTGAAAGTACTAATGTGTACAGACAGGCAAGCTTTGAGGAATTCAGACTACTCTGTTAAGGCACTGCAGTCTTGTTTTGGTTTGCTGCCTTTACAAGAATGCTGTTTTTTTTTTCATCTAGTATAAGTGCCAATTCAGGAATTGCATTTGATGACCATTCGGAATGTCTTGAGTCAGTAATTTGGAAGTGAGGTGGAGACCTTGAAGTTTTAGTTCTTGCTAACCTCAAAAAGGCTACTTATATTTTATTCGATCCTGGGTTTTCTTATCTGGGAAAAGAAAGAGGAGGTGGAGAAATGACCAGTTGCTTTCTAAGGTCCCTTCTAGACCTAACTAATTATATGTTGTTTTCATTAAGCAGATGTATGGGATAGTACCAATAAAAATGAAAAACAGATTTTGCTTGTGATATGCCAATATAGAGGTAATACCCTGTGAAGATTTTGTCTTGTAGGTTTTATGGGAGAATTGTAGACAAACCTGGTGACCATGATCCTGAGACTTTGGAAGCAATTGCAGAAAATGCAAAAGGCTTGGCTGGAATATCAGGAGAAAGGATTTGGGTGGAACTGAAAAAAATTCTTGTTGGTAACCATGTAAATCATTTGATTCACCTTATCTATGATCTTGATGTGGCTCCTTATATAGGTGAGAGCAAGTTATAAAGTGTTTGAATTTTTGGCAGTGAAATATCTGGTTTCAAATTTCATAAGGAAAAAATGTTTGACTCATTTGGTTGAAGA
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Task1_train_5869
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This sequence variant lies in TRNT1 (tRNA nucleotidyl transferase 1) on Chromosome 3. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; TRNT1-related disorder
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ATATGTATGAATACGTATGTGTTTTAATAACTGTTCACTCTGCTGAATTTTTACTGTTTGTGATAGTGTTTAGCTGATTTTCTTGTGTTTTCAAATTCTTATTTGCCAATAGTGATTTTTCTCCCTCCTTTTCTAATGAATAGGTTTTGATGGCACTTTATTTGACTACTTTAATGGTTATGAAGATTTAAAAAATAAGAAAGTTAGATTTGTTGGACATGCTAAACAGAGAATACAAGAGGATTATCTTAGAATTTTAAGATACTTCAGGTAAGAATTTTTAAAAATAAAAAATGATAGTTTTAATATCATGACTAGAGCATAACAGTGGTCATACGAAACCCACAGCAGGTCAGTGTACAAAATGGTGACATCCCAAATGTCTGTCTCCAGTGGAGACCTAGCACCCTATGACTTATGAGTGAAAATTACTTAGCTACTTCATATTGTATTTTCATTCCCAGAACGCACATATACTTTATGTCATCTTTCCTACAATTTTAAGTCATCTTTTTAAATGTCCATTTTTCTTTTTGATTGATATTTCCTCCATTGATTTATTAATTACACAGATGTTTGAATGCTTACCACAGGTCAATCCCTGTGTTAGGTGCATTAAACGTGGTAATGAACGAGTGAAAGTGTTCGCCTTCATACAGCTTACGGTTTTAGGTAGTCATGGAAATCGGTGATGGTTCACAACAAAATGATTTTGGTGAAAAGAAATACCTGTTATATGATTTAAAGAATCAAAGCATAAAGACATAATCGAAACTTGGATGGGCCGGGTGTGGTGGCTCACACCTGTAATCCCCGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATGAGACCATGCTGGCTAACATGGTGAAACCCCATTTCTACTAAAAATACAAAAAATTAGCCAGGCATGGCGGTGTGCGCCTGTAGTCCGAGCTACTCGGGAGGCTGAGGCAGGAGGATGGCGGGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACCGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGAAGATCTTGGATAAACTTGGTAAATATGAAACGCATGACTAGTTTTGTGGGTAGCAATGATGTTTAAATGTCACACACTAACCTTTTTAAAAAACTATCCGAATTGGCTAGTTTATGTCAAGTAATATTCATTTTTCACTGGTTGGGATTGCTCTCAGAATATTCTATAACAGAACATGGATATTTTGTCAATGTAGTTTCTCTAAACTTGAGTATTTGTAGTCTGTCTTATAAATAATAGAACATAGATTAAGACTTAGCTGTATTTGTATCACTAATCCAGATTTAGCATTAATTTACTTATTTAGCATCACTTTGGACCGCTGATGAATTCATTAGAATTTTAAGGGCATGAGAGGGAAACACATGCACGTTAGGGCTTCCAGTTCTAAGATTCCGCGAAATATACTCCAGGGTGCGCAACTAGATGAGTCGTATTTGAAGGTTTTCCTTGAAAGTACTAATGTGTACAGACAGGCAAGCTTTGAGGAATTCAGACTACTCTGTTAAGGCACTGCAGTCTTGTTTTGGTTTGCTGCCTTTACAAGAATGCTGTTTTTTTTTTCATCTAGTATAAGTGCCAATTCAGGAATTGCATTTGATGACCATTCGGAATGTCTTGAGTCAGTAATTTGGAAGTGAGGTGGAGACCTTGAAGTTTTAGTTCTTGCTAACCTCAAAAAGGCTACTTATATTTTATTCGATCCTGGGTTTTCTTATCTGGGAAAAGAAAGAGGAGGTGGAGAAATGACCAGTTGCTTTCTAAGGTCCCTTCTAGACCTAACTAATTATATGTTGTTTTCATTAAGCAGATGTATGGGATAGTACCAATAAAAATGAAAAACAGATTTTGCTTGTGATATGCCAATATAGAGGTAATACCCTGTGAAGATTTTGTCTTGTAGGTTTTATGGGAGAATTGTAGACAAACCTGGTGACCATGATCCTGAGACTTTGGAAGCAATTGCAGAAAATGCAAAAGGCTTGGCTGGAATATCAGGAGAAAGGATTTGGGTGGAACTGAAAAAAATTCTTGTTGGTAACCATGTAAATCATTTGATTCACCTTATCTATGATCTTGATGTGGCTCCTTATATAGGTGAGAGCAAGTTATAAAGTGTTTGAATTTTTGGCAGTGAAATATCTGGTTTCAAATTTCATAAGGAAAAAATGTTTGACTCATTTGGTTGAAGAATTCTTGGAGAAATGGAGTATTTTAAAATAAGACAAAGTTTGGGTTATGGGGTAAGTTTTGTCGTGAGTAGGGAAGAGCTCAAAGACAGCTTGTGGTGCTTGTAGAGTAGTCTCTAGTCAGACCTAGGTTTGAAGGAAGCTCAGCCCCTTATCTAGTCTTTGCAACTTGGGTTAGTTTCTAACCCAAAAAAGCGGTTTAAAAGTAATGTAGCCTCTATCTAATAGGAAAGCTAAAAGGATTCAGTGAGTTAATACATGTAAAGCTCTTTTAGAAGAGTGACTTGTACACAGAAATTGTTCAGTAAACGTTGTAATTCATTTTCACAGAGAATAGTGGGATTATATGGTTTATCACACTTCGGTAAGCTTGGGCATATTTCAAATTTCAGTAACATTACTGAATGGGGGGTGGATCTTGTATCAGTGTAAAGTCAGGAATTTGTGATTAGAAAGAGTATGCCTTGTGAGTCTGACACCACTGTCACCACTACCCCTGGAACTCTTGATGTAGCTTTAATGGAAACAAGAACATTTTAGAGGTTTTGAAGGTGACAGGGGAGAGAATAACAATATATTAGTGGTTCGCCTTTAAGTTGGAACATCAGACTGAACCTATATAATGTATCCTAGTGACAAAGCATTTCTGGATACTAAAATGGTGGCAAGGTTTAGGATATGAGTGGTTTTTTATCCCCACTAAAAACAGGTGAAAAATGCTTTTGTCCCTACAGGTTTACCTGCTAATGCAAGTTTAGAAGAATTTGACAAAGTCAGTAAAAATGTTGATGGTTTTTCACCAAAGCCAGTGACTCTTTTGGCCTCATTATTCAAAGTACAAGATGATGTCACAAAATTGGATTTGAGGTTGAAGATCGCAAAAGAGGAGAAAAACCTTGGCTTATTTATAGTTAAAAATAGGAAAGATTTAATTAAAGCAACAGATAGTTCAGACCCATTGAAACCCTATCAAGACTTCATTATAGATGTAAGTATATACTAGGCTTGGTCAGAAATATGAAGTATCGTCACGAATTTAGAATTAATTTATTAAAACTAAGATCTACAAATCTGTGAATTTTACTTATTTTAAATGAAAAAATTTATGTTGAGTATTTAAATTTTAGGATAAGATTGTAAGTGTATGTTTTCATGTGTGACGAAACTAAATGTTTGATTTTGACACGTAGTCTAGGGAACCTGATGCAACTACTCGTGTATGTGAACTACTGAAGTACCAAGGAGAGCACTGTCTCCTAAAGGAAATGCAGCAGTGGTCCATTCCTCCATTTCCTGTAAGTGGCCATGACATCAGAAAAGTGGGCATTTCTTCAGGAAAAGAAATTGGGGCTCTATTACAACAGTTGCGAGAACAGTGGAAAAAAAGTGGTTACCAAATGGAAAAAGATGAACTTCTGAGTTACATAAAGAAGACCTAAAACTGATGGCTACTAAAAAGCAGAGCATTTCTGGTAAGACTAAATTTTCTCCCCTCCCTCTTAATGAGGTTTTAGAGACTACACCAGAATAAAAGACAGTTTAGGGGACCTCTGTAGAACAACAAGGGTCTTATTTTGTGAATTATATATTTCAAGAACTAAACAGAGATCCACCTTTCTGGATCTGATTTATATCACTGAAATGTACAGTTCTTTTGGAATAGTTTCACCTGAGAAAACATAGTTGGCTATTATCTATCTTAACCTGTTCAGGCTTTTAAAAAAAACTGTTTTTGCATAGGGTAGTACTAAGATCTTAAAAAGTGGTAACTGTCTTGAAGAAAAAACGTTTATTGTTTGTTTGCAATTGAAATAACAGGGT
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ATATGTATGAATACGTATGTGTTTTAATAACTGTTCACTCTGCTGAATTTTTACTGTTTGTGATAGTGTTTAGCTGATTTTCTTGTGTTTTCAAATTCTTATTTGCCAATAGTGATTTTTCTCCCTCCTTTTCTAATGAATAGGTTTTGATGGCACTTTATTTGACTACTTTAATGGTTATGAAGATTTAAAAAATAAGAAAGTTAGATTTGTTGGACATGCTAAACAGAGAATACAAGAGGATTATCTTAGAATTTTAAGATACTTCAGGTAAGAATTTTTAAAAATAAAAAATGATAGTTTTAATATCATGACTAGAGCATAACAGTGGTCATACGAAACCCACAGCAGGTCAGTGTACAAAATGGTGACATCCCAAATGTCTGTCTCCAGTGGAGACCTAGCACCCTATGACTTATGAGTGAAAATTACTTAGCTACTTCATATTGTATTTTCATTCCCAGAACGCACATATACTTTATGTCATCTTTCCTACAATTTTAAGTCATCTTTTTAAATGTCCATTTTTCTTTTTGATTGATATTTCCTCCATTGATTTATTAATTACACAGATGTTTGAATGCTTACCACAGGTCAATCCCTGTGTTAGGTGCATTAAACGTGGTAATGAACGAGTGAAAGTGTTCGCCTTCATACAGCTTACGGTTTTAGGTAGTCATGGAAATCGGTGATGGTTCACAACAAAATGATTTTGGTGAAAAGAAATACCTGTTATATGATTTAAAGAATCAAAGCATAAAGACATAATCGAAACTTGGATGGGCCGGGTGTGGTGGCTCACACCTGTAATCCCCGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATGAGACCATGCTGGCTAACATGGTGAAACCCCATTTCTACTAAAAATACAAAAAATTAGCCAGGCATGGCGGTGTGCGCCTGTAGTCCGAGCTACTCGGGAGGCTGAGGCAGGAGGATGGCGGGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACCGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGAAGATCTTGGATAAACTTGGTAAATATGAAACGCATGACTAGTTTTGTGGGTAGCAATGATGTTTAAATGTCACACACTAACCTTTTTAAAAAACTATCCGAATTGGCTAGTTTATGTCAAGTAATATTCATTTTTCACTGGTTGGGATTGCTCTCAGAATATTCTATAACAGAACATGGATATTTTGTCAATGTAGTTTCTCTAAACTTGAGTATTTGTAGTCTGTCTTATAAATAATAGAACATAGATTAAGACTTAGCTGTATTTGTATCACTAATCCAGATTTAGCATTAATTTACTTATTTAGCATCACTTTGGACCGCTGATGAATTCATTAGAATTTTAAGGGCATGAGAGGGAAACACATGCACGTTAGGGCTTCCAGTTCTAAGATTCCGCGAAATATACTCCAGGGTGCGCAACTAGATGAGTCGTATTTGAAGGTTTTCCTTGAAAGTACTAATGTGTACAGACAGGCAAGCTTTGAGGAATTCAGACTACTCTGTTAAGGCACTGCAGTCTTGTTTTGGTTTGCTGCCTTTACAAGAATGCTGTTTTTTTTTTCATCTAGTATAAGTGCCAATTCAGGAATTGCATTTGATGACCATTCGGAATGTCTTGAGTCAGTAATTTGGAAGTGAGGTGGAGACCTTGAAGTTTTAGTTCTTGCTAACCTCAAAAAGGCTACTTATATTTTATTCGATCCTGGGTTTTCTTATCTGGGAAAAGAAAGAGGAGGTGGAGAAATGACCAGTTGCTTTCTAAGGTCCCTTCTAGACCTAACTAATTATATGTTGTTTTCATTAAGCAGATGTATGGGATAGTACCAATAAAAATGAAAAACAGATTTTGCTTGTGATATGCCAATATAGAGGTAATACCCTGTGAAGATTTTGTCTTGTAGGTTTTATGGGAGAATTGTAGACAAACCTGGTGACCATGATCCTGAGACTTTGGAAGCAACTGCAGAAAATGCAAAAGGCTTGGCTGGAATATCAGGAGAAAGGATTTGGGTGGAACTGAAAAAAATTCTTGTTGGTAACCATGTAAATCATTTGATTCACCTTATCTATGATCTTGATGTGGCTCCTTATATAGGTGAGAGCAAGTTATAAAGTGTTTGAATTTTTGGCAGTGAAATATCTGGTTTCAAATTTCATAAGGAAAAAATGTTTGACTCATTTGGTTGAAGAATTCTTGGAGAAATGGAGTATTTTAAAATAAGACAAAGTTTGGGTTATGGGGTAAGTTTTGTCGTGAGTAGGGAAGAGCTCAAAGACAGCTTGTGGTGCTTGTAGAGTAGTCTCTAGTCAGACCTAGGTTTGAAGGAAGCTCAGCCCCTTATCTAGTCTTTGCAACTTGGGTTAGTTTCTAACCCAAAAAAGCGGTTTAAAAGTAATGTAGCCTCTATCTAATAGGAAAGCTAAAAGGATTCAGTGAGTTAATACATGTAAAGCTCTTTTAGAAGAGTGACTTGTACACAGAAATTGTTCAGTAAACGTTGTAATTCATTTTCACAGAGAATAGTGGGATTATATGGTTTATCACACTTCGGTAAGCTTGGGCATATTTCAAATTTCAGTAACATTACTGAATGGGGGGTGGATCTTGTATCAGTGTAAAGTCAGGAATTTGTGATTAGAAAGAGTATGCCTTGTGAGTCTGACACCACTGTCACCACTACCCCTGGAACTCTTGATGTAGCTTTAATGGAAACAAGAACATTTTAGAGGTTTTGAAGGTGACAGGGGAGAGAATAACAATATATTAGTGGTTCGCCTTTAAGTTGGAACATCAGACTGAACCTATATAATGTATCCTAGTGACAAAGCATTTCTGGATACTAAAATGGTGGCAAGGTTTAGGATATGAGTGGTTTTTTATCCCCACTAAAAACAGGTGAAAAATGCTTTTGTCCCTACAGGTTTACCTGCTAATGCAAGTTTAGAAGAATTTGACAAAGTCAGTAAAAATGTTGATGGTTTTTCACCAAAGCCAGTGACTCTTTTGGCCTCATTATTCAAAGTACAAGATGATGTCACAAAATTGGATTTGAGGTTGAAGATCGCAAAAGAGGAGAAAAACCTTGGCTTATTTATAGTTAAAAATAGGAAAGATTTAATTAAAGCAACAGATAGTTCAGACCCATTGAAACCCTATCAAGACTTCATTATAGATGTAAGTATATACTAGGCTTGGTCAGAAATATGAAGTATCGTCACGAATTTAGAATTAATTTATTAAAACTAAGATCTACAAATCTGTGAATTTTACTTATTTTAAATGAAAAAATTTATGTTGAGTATTTAAATTTTAGGATAAGATTGTAAGTGTATGTTTTCATGTGTGACGAAACTAAATGTTTGATTTTGACACGTAGTCTAGGGAACCTGATGCAACTACTCGTGTATGTGAACTACTGAAGTACCAAGGAGAGCACTGTCTCCTAAAGGAAATGCAGCAGTGGTCCATTCCTCCATTTCCTGTAAGTGGCCATGACATCAGAAAAGTGGGCATTTCTTCAGGAAAAGAAATTGGGGCTCTATTACAACAGTTGCGAGAACAGTGGAAAAAAAGTGGTTACCAAATGGAAAAAGATGAACTTCTGAGTTACATAAAGAAGACCTAAAACTGATGGCTACTAAAAAGCAGAGCATTTCTGGTAAGACTAAATTTTCTCCCCTCCCTCTTAATGAGGTTTTAGAGACTACACCAGAATAAAAGACAGTTTAGGGGACCTCTGTAGAACAACAAGGGTCTTATTTTGTGAATTATATATTTCAAGAACTAAACAGAGATCCACCTTTCTGGATCTGATTTATATCACTGAAATGTACAGTTCTTTTGGAATAGTTTCACCTGAGAAAACATAGTTGGCTATTATCTATCTTAACCTGTTCAGGCTTTTAAAAAAAACTGTTTTTGCATAGGGTAGTACTAAGATCTTAAAAAGTGGTAACTGTCTTGAAGAAAAAACGTTTATTGTTTGTTTGCAATTGAAATAACAGGGT
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Task1_train_5870
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A variant was discovered in gene TRNT1 (tRNA nucleotidyl transferase 1), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
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ATATGTATGAATACGTATGTGTTTTAATAACTGTTCACTCTGCTGAATTTTTACTGTTTGTGATAGTGTTTAGCTGATTTTCTTGTGTTTTCAAATTCTTATTTGCCAATAGTGATTTTTCTCCCTCCTTTTCTAATGAATAGGTTTTGATGGCACTTTATTTGACTACTTTAATGGTTATGAAGATTTAAAAAATAAGAAAGTTAGATTTGTTGGACATGCTAAACAGAGAATACAAGAGGATTATCTTAGAATTTTAAGATACTTCAGGTAAGAATTTTTAAAAATAAAAAATGATAGTTTTAATATCATGACTAGAGCATAACAGTGGTCATACGAAACCCACAGCAGGTCAGTGTACAAAATGGTGACATCCCAAATGTCTGTCTCCAGTGGAGACCTAGCACCCTATGACTTATGAGTGAAAATTACTTAGCTACTTCATATTGTATTTTCATTCCCAGAACGCACATATACTTTATGTCATCTTTCCTACAATTTTAAGTCATCTTTTTAAATGTCCATTTTTCTTTTTGATTGATATTTCCTCCATTGATTTATTAATTACACAGATGTTTGAATGCTTACCACAGGTCAATCCCTGTGTTAGGTGCATTAAACGTGGTAATGAACGAGTGAAAGTGTTCGCCTTCATACAGCTTACGGTTTTAGGTAGTCATGGAAATCGGTGATGGTTCACAACAAAATGATTTTGGTGAAAAGAAATACCTGTTATATGATTTAAAGAATCAAAGCATAAAGACATAATCGAAACTTGGATGGGCCGGGTGTGGTGGCTCACACCTGTAATCCCCGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATGAGACCATGCTGGCTAACATGGTGAAACCCCATTTCTACTAAAAATACAAAAAATTAGCCAGGCATGGCGGTGTGCGCCTGTAGTCCGAGCTACTCGGGAGGCTGAGGCAGGAGGATGGCGGGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACCGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGAAGATCTTGGATAAACTTGGTAAATATGAAACGCATGACTAGTTTTGTGGGTAGCAATGATGTTTAAATGTCACACACTAACCTTTTTAAAAAACTATCCGAATTGGCTAGTTTATGTCAAGTAATATTCATTTTTCACTGGTTGGGATTGCTCTCAGAATATTCTATAACAGAACATGGATATTTTGTCAATGTAGTTTCTCTAAACTTGAGTATTTGTAGTCTGTCTTATAAATAATAGAACATAGATTAAGACTTAGCTGTATTTGTATCACTAATCCAGATTTAGCATTAATTTACTTATTTAGCATCACTTTGGACCGCTGATGAATTCATTAGAATTTTAAGGGCATGAGAGGGAAACACATGCACGTTAGGGCTTCCAGTTCTAAGATTCCGCGAAATATACTCCAGGGTGCGCAACTAGATGAGTCGTATTTGAAGGTTTTCCTTGAAAGTACTAATGTGTACAGACAGGCAAGCTTTGAGGAATTCAGACTACTCTGTTAAGGCACTGCAGTCTTGTTTTGGTTTGCTGCCTTTACAAGAATGCTGTTTTTTTTTTCATCTAGTATAAGTGCCAATTCAGGAATTGCATTTGATGACCATTCGGAATGTCTTGAGTCAGTAATTTGGAAGTGAGGTGGAGACCTTGAAGTTTTAGTTCTTGCTAACCTCAAAAAGGCTACTTATATTTTATTCGATCCTGGGTTTTCTTATCTGGGAAAAGAAAGAGGAGGTGGAGAAATGACCAGTTGCTTTCTAAGGTCCCTTCTAGACCTAACTAATTATATGTTGTTTTCATTAAGCAGATGTATGGGATAGTACCAATAAAAATGAAAAACAGATTTTGCTTGTGATATGCCAATATAGAGGTAATACCCTGTGAAGATTTTGTCTTGTAGGTTTTATGGGAGAATTGTAGACAAACCTGGTGACCATGATCCTGAGACTTTGGAAGCAATTGCAGAAAATGCAAAAGGCTTGGCTGGAATATCAGGAGAAAGGATTTGGGTGGAACTGAAAAAAATTCTTGTTGGTAACCATGTAAATCATTTGATTCACCTTATCTATGATCTTGATGTGGCTCCTTATATAGGTGAGAGCAAGTTATAAAGTGTTTGAATTTTTGGCAGTGAAATATCTGGTTTCAAATTTCATAAGGAAAAAATGTTTGACTCATTTGGTTGAAGAATTCTTGGAGAAATGGAGTATTTTAAAATAAGACAAAGTTTGGGTTATGGGGTAAGTTTTGTCGTGAGTAGGGAAGAGCTCAAAGACAGCTTGTGGTGCTTGTAGAGTAGTCTCTAGTCAGACCTAGGTTTGAAGGAAGCTCAGCCCCTTATCTAGTCTTTGCAACTTGGGTTAGTTTCTAACCCAAAAAAGCGGTTTAAAAGTAATGTAGCCTCTATCTAATAGGAAAGCTAAAAGGATTCAGTGAGTTAATACATGTAAAGCTCTTTTAGAAGAGTGACTTGTACACAGAAATTGTTCAGTAAACGTTGTAATTCATTTTCACAGAGAATAGTGGGATTATATGGTTTATCACACTTCGGTAAGCTTGGGCATATTTCAAATTTCAGTAACATTACTGAATGGGGGGTGGATCTTGTATCAGTGTAAAGTCAGGAATTTGTGATTAGAAAGAGTATGCCTTGTGAGTCTGACACCACTGTCACCACTACCCCTGGAACTCTTGATGTAGCTTTAATGGAAACAAGAACATTTTAGAGGTTTTGAAGGTGACAGGGGAGAGAATAACAATATATTAGTGGTTCGCCTTTAAGTTGGAACATCAGACTGAACCTATATAATGTATCCTAGTGACAAAGCATTTCTGGATACTAAAATGGTGGCAAGGTTTAGGATATGAGTGGTTTTTTATCCCCACTAAAAACAGGTGAAAAATGCTTTTGTCCCTACAGGTTTACCTGCTAATGCAAGTTTAGAAGAATTTGACAAAGTCAGTAAAAATGTTGATGGTTTTTCACCAAAGCCAGTGACTCTTTTGGCCTCATTATTCAAAGTACAAGATGATGTCACAAAATTGGATTTGAGGTTGAAGATCGCAAAAGAGGAGAAAAACCTTGGCTTATTTATAGTTAAAAATAGGAAAGATTTAATTAAAGCAACAGATAGTTCAGACCCATTGAAACCCTATCAAGACTTCATTATAGATGTAAGTATATACTAGGCTTGGTCAGAAATATGAAGTATCGTCACGAATTTAGAATTAATTTATTAAAACTAAGATCTACAAATCTGTGAATTTTACTTATTTTAAATGAAAAAATTTATGTTGAGTATTTAAATTTTAGGATAAGATTGTAAGTGTATGTTTTCATGTGTGACGAAACTAAATGTTTGATTTTGACACGTAGTCTAGGGAACCTGATGCAACTACTCGTGTATGTGAACTACTGAAGTACCAAGGAGAGCACTGTCTCCTAAAGGAAATGCAGCAGTGGTCCATTCCTCCATTTCCTGTAAGTGGCCATGACATCAGAAAAGTGGGCATTTCTTCAGGAAAAGAAATTGGGGCTCTATTACAACAGTTGCGAGAACAGTGGAAAAAAAGTGGTTACCAAATGGAAAAAGATGAACTTCTGAGTTACATAAAGAAGACCTAAAACTGATGGCTACTAAAAAGCAGAGCATTTCTGGTAAGACTAAATTTTCTCCCCTCCCTCTTAATGAGGTTTTAGAGACTACACCAGAATAAAAGACAGTTTAGGGGACCTCTGTAGAACAACAAGGGTCTTATTTTGTGAATTATATATTTCAAGAACTAAACAGAGATCCACCTTTCTGGATCTGATTTATATCACTGAAATGTACAGTTCTTTTGGAATAGTTTCACCTGAGAAAACATAGTTGGCTATTATCTATCTTAACCTGTTCAGGCTTTTAAAAAAAACTGTTTTTGCATAGGGTAGTACTAAGATCTTAAAAAGTGGTAACTGTCTTGAAGAAAAAACGTTTATTGTTTGTTTGCAATTGAAATAACAGGGT
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ATATGTATGAATACGTATGTGTTTTAATAACTGTTCACTCTGCTGAATTTTTACTGTTTGTGATAGTGTTTAGCTGATTTTCTTGTGTTTTCAAATTCTTATTTGCCAATAGTGATTTTTCTCCCTCCTTTTCTAATGAATAGGTTTTGATGGCACTTTATTTGACTACTTTAATGGTTATGAAGATTTAAAAAATAAGAAAGTTAGATTTGTTGGACATGCTAAACAGAGAATACAAGAGGATTATCTTAGAATTTTAAGATACTTCAGGTAAGAATTTTTAAAAATAAAAAATGATAGTTTTAATATCATGACTAGAGCATAACAGTGGTCATACGAAACCCACAGCAGGTCAGTGTACAAAATGGTGACATCCCAAATGTCTGTCTCCAGTGGAGACCTAGCACCCTATGACTTATGAGTGAAAATTACTTAGCTACTTCATATTGTATTTTCATTCCCAGAACGCACATATACTTTATGTCATCTTTCCTACAATTTTAAGTCATCTTTTTAAATGTCCATTTTTCTTTTTGATTGATATTTCCTCCATTGATTTATTAATTACACAGATGTTTGAATGCTTACCACAGGTCAATCCCTGTGTTAGGTGCATTAAACGTGGTAATGAACGAGTGAAAGTGTTCGCCTTCATACAGCTTACGGTTTTAGGTAGTCATGGAAATCGGTGATGGTTCACAACAAAATGATTTTGGTGAAAAGAAATACCTGTTATATGATTTAAAGAATCAAAGCATAAAGACATAATCGAAACTTGGATGGGCCGGGTGTGGTGGCTCACACCTGTAATCCCCGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATGAGACCATGCTGGCTAACATGGTGAAACCCCATTTCTACTAAAAATACAAAAAATTAGCCAGGCATGGCGGTGTGCGCCTGTAGTCCGAGCTACTCGGGAGGCTGAGGCAGGAGGATGGCGGGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACCGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGAAGATCTTGGATAAACTTGGTAAATATGAAACGCATGACTAGTTTTGTGGGTAGCAATGATGTTTAAATGTCACACACTAACCTTTTTAAAAAACTATCCGAATTGGCTAGTTTATGTCAAGTAATATTCATTTTTCACTGGTTGGGATTGCTCTCAGAATATTCTATAACAGAACATGGATATTTTGTCAATGTAGTTTCTCTAAACTTGAGTATTTGTAGTCTGTCTTATAAATAATAGAACATAGATTAAGACTTAGCTGTATTTGTATCACTAATCCAGATTTAGCATTAATTTACTTATTTAGCATCACTTTGGACCGCTGATGAATTCATTAGAATTTTAAGGGCATGAGAGGGAAACACATGCACGTTAGGGCTTCCAGTTCTAAGATTCCGCGAAATATACTCCAGGGTGCGCAACTAGATGAGTCGTATTTGAAGGTTTTCCTTGAAAGTACTAATGTGTACAGACAGGCAAGCTTTGAGGAATTCAGACTACTCTGTTAAGGCACTGCAGTCTTGTTTTGGTTTGCTGCCTTTACAAGAATGCTGTTTTTTTTTTCATCTAGTATAAGTGCCAATTCAGGAATTGCATTTGATGACCATTCGGAATGTCTTGAGTCAGTAATTTGGAAGTGAGGTGGAGACCTTGAAGTTTTAGTTCTTGCTAACCTCAAAAAGGCTACTTATATTTTATTCGATCCTGGGTTTTCTTATCTGGGAAAAGAAAGAGGAGGTGGAGAAATGACCAGTTGCTTTCTAAGGTCCCTTCTAGACCTAACTAATTATATGTTGTTTTCATTAAGCAGATGTATGGGATAGTACCAATAAAAATGAAAAACAGATTTTGCTTGTGATATGCCAATATAGAGGTAATACCCTGTGAAGATTTTGTCTTGTAGGTTTTATGGGAGAATTGTAGACAAACCTGGTGACCATGATCCTGAGACTTTGGAAGCAACTGCAGAAAATGCAAAAGGCTTGGCTGGAATATCAGGAGAAAGGATTTGGGTGGAACTGAAAAAAATTCTTGTTGGTAACCATGTAAATCATTTGATTCACCTTATCTATGATCTTGATGTGGCTCCTTATATAGGTGAGAGCAAGTTATAAAGTGTTTGAATTTTTGGCAGTGAAATATCTGGTTTCAAATTTCATAAGGAAAAAATGTTTGACTCATTTGGTTGAAGAATTCTTGGAGAAATGGAGTATTTTAAAATAAGACAAAGTTTGGGTTATGGGGTAAGTTTTGTCGTGAGTAGGGAAGAGCTCAAAGACAGCTTGTGGTGCTTGTAGAGTAGTCTCTAGTCAGACCTAGGTTTGAAGGAAGCTCAGCCCCTTATCTAGTCTTTGCAACTTGGGTTAGTTTCTAACCCAAAAAAGCGGTTTAAAAGTAATGTAGCCTCTATCTAATAGGAAAGCTAAAAGGATTCAGTGAGTTAATACATGTAAAGCTCTTTTAGAAGAGTGACTTGTACACAGAAATTGTTCAGTAAACGTTGTAATTCATTTTCACAGAGAATAGTGGGATTATATGGTTTATCACACTTCGGTAAGCTTGGGCATATTTCAAATTTCAGTAACATTACTGAATGGGGGGTGGATCTTGTATCAGTGTAAAGTCAGGAATTTGTGATTAGAAAGAGTATGCCTTGTGAGTCTGACACCACTGTCACCACTACCCCTGGAACTCTTGATGTAGCTTTAATGGAAACAAGAACATTTTAGAGGTTTTGAAGGTGACAGGGGAGAGAATAACAATATATTAGTGGTTCGCCTTTAAGTTGGAACATCAGACTGAACCTATATAATGTATCCTAGTGACAAAGCATTTCTGGATACTAAAATGGTGGCAAGGTTTAGGATATGAGTGGTTTTTTATCCCCACTAAAAACAGGTGAAAAATGCTTTTGTCCCTACAGGTTTACCTGCTAATGCAAGTTTAGAAGAATTTGACAAAGTCAGTAAAAATGTTGATGGTTTTTCACCAAAGCCAGTGACTCTTTTGGCCTCATTATTCAAAGTACAAGATGATGTCACAAAATTGGATTTGAGGTTGAAGATCGCAAAAGAGGAGAAAAACCTTGGCTTATTTATAGTTAAAAATAGGAAAGATTTAATTAAAGCAACAGATAGTTCAGACCCATTGAAACCCTATCAAGACTTCATTATAGATGTAAGTATATACTAGGCTTGGTCAGAAATATGAAGTATCGTCACGAATTTAGAATTAATTTATTAAAACTAAGATCTACAAATCTGTGAATTTTACTTATTTTAAATGAAAAAATTTATGTTGAGTATTTAAATTTTAGGATAAGATTGTAAGTGTATGTTTTCATGTGTGACGAAACTAAATGTTTGATTTTGACACGTAGTCTAGGGAACCTGATGCAACTACTCGTGTATGTGAACTACTGAAGTACCAAGGAGAGCACTGTCTCCTAAAGGAAATGCAGCAGTGGTCCATTCCTCCATTTCCTGTAAGTGGCCATGACATCAGAAAAGTGGGCATTTCTTCAGGAAAAGAAATTGGGGCTCTATTACAACAGTTGCGAGAACAGTGGAAAAAAAGTGGTTACCAAATGGAAAAAGATGAACTTCTGAGTTACATAAAGAAGACCTAAAACTGATGGCTACTAAAAAGCAGAGCATTTCTGGTAAGACTAAATTTTCTCCCCTCCCTCTTAATGAGGTTTTAGAGACTACACCAGAATAAAAGACAGTTTAGGGGACCTCTGTAGAACAACAAGGGTCTTATTTTGTGAATTATATATTTCAAGAACTAAACAGAGATCCACCTTTCTGGATCTGATTTATATCACTGAAATGTACAGTTCTTTTGGAATAGTTTCACCTGAGAAAACATAGTTGGCTATTATCTATCTTAACCTGTTCAGGCTTTTAAAAAAAACTGTTTTTGCATAGGGTAGTACTAAGATCTTAAAAAGTGGTAACTGTCTTGAAGAAAAAACGTTTATTGTTTGTTTGCAATTGAAATAACAGGGT
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Task1_train_5871
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A mutation found in SUMF1 (sulfatase modifying factor 1) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Multiple sulfatase deficiency
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TGCTACCAATGTTTGTTCTTTTTTTTTTTTTTTTTTGCCTGGGATTAATCATCAGTAGGTGGAAGTTTGTAGAGAAACATTTGATATCTACAAAATGAACCACAAATGTGGCTAAACGTGCCAGCTACATGACTTTTTTTTTTTTTTCTTTTTTTCCTGAGACAAAGTCTTGTTCTCTTATCCAGGCTGGAATGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGCAATTCTCCTGGCTCAGTCCTGAGTAGCTGGGACTACAGGCAAGTGTCACCACTCCTGGCTAAATTTTATTTTTTGTATTTTTAGTAGAAATAGGGTTTTGGCATGTTGGCCAAGCTAATCTCGAACTCCTGACCTTGAGTGATCTACCCACCTTGGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCACTGGGCCTGGCCTACATGACTGCTTTTCAAGGGAATTGTTTTAACATGTTAAGAGGCTAAGCACAAAAGTAGCATTCAAGTGTTGGTTAGACACTTTTGAATATTATTTGATTTAAACATTTCTTTCAAATGGCATGCAAGAAATGGCTTAGGGGTTCTCAGGACTGAGGAATCAGGATGGGAACTTGATAACAGGGACCTTAGGTTGAAAGCTATTGTTCTAAAACAAGGTGCTTTCCCGGCATGGGAAGCAAATGCTGGGTTTTACAAGACCACAAGTGAGGCAGTGCCTTTGACTTGGCATTATCTACTGTGGCAACAAGCAGCAAGGTCATGATAGGGTTACTGGTGGAATAGCCTTGCTTTTTGGAACAAAAATTCCCACAAATTACCCACATATCAAAGTTATCCATTAGCTAACAAACATGAACGTTTTCTAGCAAATAAAACACGCATATCACAAAGTCCTCTCTTTAAAAGAAAACATAAAGAAGAGAAAGAGAAAAGAAGCTGATGACGGTGAAGCCTGATTTAGCAGATACGTTTATTCAACACAGTGCATGATTCAAAGCATCGGATATTCCACAGCCAACAAGGTTTCCTATTCCCTATTACAAAATACCGGATACCCTGAATATAGCTCATTCAAGGTCCTCGTTCCTTTTTCCCTATATCTAGAATTAAACAGGTTTCCCCGTTTAGCGCACATTTCACGTTCGCTGAAGGCTTTGGGGAGAGGGGGAAACAGAGCTTATGACTGCCCCTCTGAACCAAAGGCACTTAATGTTAAAAGATAAAGCACAGTAGAGTCACCCCACAGACATTCCTATGTGTTCAACGGCTGAACTTCAGCATACCATCACCGGCCCCATGTGGGATTCATCATAACAACGTAAAAGACACTGATTTCCTTGGAAAAACAAAGTGCAGTACGAATATAAAGGAGTCACCACACCCCTCTTCCGAAAATAATACATAAGAGAACTCTTACTTTACATGATTAGTATCACTCAAGGTTCACACATGGAAAAAATAGCTAAAAAATAATCTATAATAAATTCTCACTATGAAGTCACAATAGAATCTGATACCCTTTTTAGAACTGGTGAGTTGGAGAGACACCCAGAGGTCATGCTGTCCATCCCTTCATTTGATAGGGGAGGGCACTTGAGGCCCAGGAAGGTCAAGCGTCGGACCTGGGGTCTAACCCCTGTGGCAGAGCCTGCGTAGGACGCGGGCCTCCTGAAGCCTAGCTCAGGGTTCCCTCCACTCCCCTTCCTCTTTAAAGACTCTCAAAAGTAAAATATGGTGATGATCTCCAAAGATGCACCACACCATAAAGCACATGCACTGACCCAGGTCAGCAATTTGGTCTCACAAGGCGGTTCCTTTGGCCATTGGGCAGGTATGTAACCCACCTCAGGGTGGGAATTCTTTGCATGGGATCGTTCAAAGTTCTGAGAAAAGCCCAATGTAGGTCAGACACGACTGCTCCTTGGACTGGGGAAGACTTTCCTTGGTTGTCAGTCCATAGTGGGCAGGCGGTCGGCTGCACAGCGGAATCCCAGATTCGAAGCAGAGCTATCAGGTGTGTTCTGGCTCCGAGCAGCACAGCGATACCTGTAACAATAAGACTGTGTAGAGAGAAAGAGCAAGGTAAGTGCTACTGGGACTCTCAGCTGAAGGCTCTAACCCATCAGATGCATATTGCACCGGCTGTAGACAGTGCTTCCCCACAACCCTGCCTGTATGGATACTTAACATGTATGCTTTAAAAAGGGCAGCACATTCAAGAACTAACCACATATTTTCCAACGTCCTTCACCTTATAAATGTAACACGGATATAGTACAAAGATGTTCAGCATTAGATATAACAGCAAAAAAGAAAAATGTAACAACCAATGATTGCCTAAGTTTAGGCACATCCATATAATAGAAAAGTAAGCAGCCATTGAAAGTCATGTCTTTACATAGTATTTAATGACACAGGAAGTTTTCATGATAAAATGTTAAATGAGGCCAGGCGCACTGGCTCACACCTGTAATCCCAACATTTTGGGAGGCTGAAATGGGAGAACTGTTTGAGGCCAGGAGCTCGAGGCCAGCCTGGGCAACACAGCAAGATCCCATCTCTACAAAAAATTAGCTGAGCATGGTGGTGTGCACTTGTAGTCACAGCTACTCTAGAGGTTGAAGTGGGAAGATCTCTTGAGCCTGGGTGTTTGAGGCTGCAGTACACCATCACTGAGCCACTGTACTAAAGCCTGGGTGACAGAGCAAGATCTTGTGTCCAAAAAAAGAAAAAAAAACAGTTAAAATGAAAAAGGCAGAATATAAAGGTGTATATGTGGTATGACCACAGTGTAGATAACTACATGTGCCAAGAAGAAAAGACTGGAAGATTCCGAATGCACCACAATGTGCACAGTAGTTATCCCTCAAGCAATCTGAGTTTCATGTTTCCTATATGAAACCTATTCAGTATTCCAATACAATAAGAATATATATTAATTTTTGAAATTAAACCAAGTAATAAGTGATAGATGGCCACTGAAAAAATACTAAGAACAACACTAAGACACCATTTAATACCTAAATAATATTTATGATATTATTTATTATCTAAATCATATTTATGATATCATTTAATGCCAGTAGATCGGCAAAAAATTAAACAACAAGTCTAGGAACATCAAACATAGGAAAGGCTGTGGGACAACATTGCTTTTTAAAAATACATTGCTCTTCCATTTCTTTGTATCCTCTTTTATTTCATTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACGTCCCTTGTAAGGTGGATTCCTAGGTATTTTATTCTCTTTGAAGTAATTGTGAATGGGAGTTCACTCATGATTTGGCTCTCTGTTTGTCTGTTATTGGTGTATAAGATTGCTTGTGATTTTTGTACATTGATTTCGTATCCTGAGACGTTGCTGAAGTTGCTTATCAGCTTAAGGAGACTTTGGGCTGACACAATGGGGTTTTCTAGATATACAATCATGTCATCTGCAAACAGGGACAATTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCCTAATCGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGAGAGAGGGCATCCCTGTCTTGTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTGTGATATTGGCTGTGGGTCTGTCATAGATAGCTCTTATTATTTTGAGATACATCCCATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATTGTGTCAAAGGCCTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTCTTTGGTTCTGTTTATATGCTGGATTACATTTATTCATTTGCGTATATTGAACCAGACTTGCATCCCAGGGATGAAGCCCACTTGATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTATTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTCTTGGTTGAGTCTCTGCCCGGCTTTGGTATCAGGATGATGCTGGCCTCATCAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATA
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TGCTACCAATGTTTGTTCTTTTTTTTTTTTTTTTTTGCCTGGGATTAATCATCAGTAGGTGGAAGTTTGTAGAGAAACATTTGATATCTACAAAATGAACCACAAATGTGGCTAAACGTGCCAGCTACATGACTTTTTTTTTTTTTTCTTTTTTTCCTGAGACAAAGTCTTGTTCTCTTATCCAGGCTGGAATGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGCAATTCTCCTGGCTCAGTCCTGAGTAGCTGGGACTACAGGCAAGTGTCACCACTCCTGGCTAAATTTTATTTTTTGTATTTTTAGTAGAAATAGGGTTTTGGCATGTTGGCCAAGCTAATCTCGAACTCCTGACCTTGAGTGATCTACCCACCTTGGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCACTGGGCCTGGCCTACATGACTGCTTTTCAAGGGAATTGTTTTAACATGTTAAGAGGCTAAGCACAAAAGTAGCATTCAAGTGTTGGTTAGACACTTTTGAATATTATTTGATTTAAACATTTCTTTCAAATGGCATGCAAGAAATGGCTTAGGGGTTCTCAGGACTGAGGAATCAGGATGGGAACTTGATAACAGGGACCTTAGGTTGAAAGCTATTGTTCTAAAACAAGGTGCTTTCCCGGCATGGGAAGCAAATGCTGGGTTTTACAAGACCACAAGTGAGGCAGTGCCTTTGACTTGGCATTATCTACTGTGGCAACAAGCAGCAAGGTCATGATAGGGTTACTGGTGGAATAGCCTTGCTTTTTGGAACAAAAATTCCCACAAATTACCCACATATCAAAGTTATCCATTAGCTAACAAACATGAACGTTTTCTAGCAAATAAAACACGCATATCACAAAGTCCTCTCTTTAAAAGAAAACATAAAGAAGAGAAAGAGAAAAGAAGCTGATGACGGTGAAGCCTGATTTAGCAGATACGTTTATTCAACACAGTGCATGATTCAAAGCATCGGATATTCCACAGCCAACAAGGTTTCCTATTCCCTATTACAAAATACCGGATACCCTGAATATAGCTCATTCAAGGTCCTCGTTCCTTTTTCCCTATATCTAGAATTAAACAGGTTTCCCCGTTTAGCGCACATTTCACGTTCGCTGAAGGCTTTGGGGAGAGGGGGAAACAGAGCTTATGACTGCCCCTCTGAACCAAAGGCACTTAATGTTAAAAGATAAAGCACAGTAGAGTCACCCCACAGACATTCCTATGTGTTCAACGGCTGAACTTCAGCATACCATCACCGGCCCCATGTGGGATTCATCATAACAACGTAAAAGACACTGATTTCCTTGGAAAAACAAAGTGCAGTACGAATATAAAGGAGTCACCACACCCCTCTTCCGAAAATAATACATAAGAGAACTCTTACTTTACATGATTAGTATCACTCAAGGTTCACACATGGAAAAAATAGCTAAAAAATAATCTATAATAAATTCTCACTATGAAGTCACAATAGAATCTGATACCCTTTTTAGAACTGGTGAGTTGGAGAGACACCCAGAGGTCATGCTGTCCATCCCTTCATTTGATAGGGGAGGGCACTTGAGGCCCAGGAAGGTCAAGCGTCGGACCTGGGGTCTAACCCCTGTGGCAGAGCCTGCGTAGGACGCGGGCCTCCTGAAGCCTAGCTCAGGGTTCCCTCCACTCCCCTTCCTCTTTAAAGACTCTCAAAAGTAAAATATGGTGATGATCTCCAAAGATGCACCACACCATAAAGCACATGCACTGACCCAGGTCAGCAATTTGGTCTCACAAGGCGGTTCCTTTGGCCATTGGGCAGGTATGTAACCCACCTCAGGGTGGGAATTCTTTGCATGGGATCGTTCAAAGTTCTGAGAAAAGCCCAATGTAGGTCAGACACGACTGCTCCTTGGACTGGGGAAGACTTTCCTTGGTTGTCAGTCCATAGTGGGCAGGCGGTCGGCTGCACAGCGGAATCCCAGATTCGAAGCAGAGCTATCAGGTGTGTTCTGGCTCCGAGCAGCACAGCAATACCTGTAACAATAAGACTGTGTAGAGAGAAAGAGCAAGGTAAGTGCTACTGGGACTCTCAGCTGAAGGCTCTAACCCATCAGATGCATATTGCACCGGCTGTAGACAGTGCTTCCCCACAACCCTGCCTGTATGGATACTTAACATGTATGCTTTAAAAAGGGCAGCACATTCAAGAACTAACCACATATTTTCCAACGTCCTTCACCTTATAAATGTAACACGGATATAGTACAAAGATGTTCAGCATTAGATATAACAGCAAAAAAGAAAAATGTAACAACCAATGATTGCCTAAGTTTAGGCACATCCATATAATAGAAAAGTAAGCAGCCATTGAAAGTCATGTCTTTACATAGTATTTAATGACACAGGAAGTTTTCATGATAAAATGTTAAATGAGGCCAGGCGCACTGGCTCACACCTGTAATCCCAACATTTTGGGAGGCTGAAATGGGAGAACTGTTTGAGGCCAGGAGCTCGAGGCCAGCCTGGGCAACACAGCAAGATCCCATCTCTACAAAAAATTAGCTGAGCATGGTGGTGTGCACTTGTAGTCACAGCTACTCTAGAGGTTGAAGTGGGAAGATCTCTTGAGCCTGGGTGTTTGAGGCTGCAGTACACCATCACTGAGCCACTGTACTAAAGCCTGGGTGACAGAGCAAGATCTTGTGTCCAAAAAAAGAAAAAAAAACAGTTAAAATGAAAAAGGCAGAATATAAAGGTGTATATGTGGTATGACCACAGTGTAGATAACTACATGTGCCAAGAAGAAAAGACTGGAAGATTCCGAATGCACCACAATGTGCACAGTAGTTATCCCTCAAGCAATCTGAGTTTCATGTTTCCTATATGAAACCTATTCAGTATTCCAATACAATAAGAATATATATTAATTTTTGAAATTAAACCAAGTAATAAGTGATAGATGGCCACTGAAAAAATACTAAGAACAACACTAAGACACCATTTAATACCTAAATAATATTTATGATATTATTTATTATCTAAATCATATTTATGATATCATTTAATGCCAGTAGATCGGCAAAAAATTAAACAACAAGTCTAGGAACATCAAACATAGGAAAGGCTGTGGGACAACATTGCTTTTTAAAAATACATTGCTCTTCCATTTCTTTGTATCCTCTTTTATTTCATTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACGTCCCTTGTAAGGTGGATTCCTAGGTATTTTATTCTCTTTGAAGTAATTGTGAATGGGAGTTCACTCATGATTTGGCTCTCTGTTTGTCTGTTATTGGTGTATAAGATTGCTTGTGATTTTTGTACATTGATTTCGTATCCTGAGACGTTGCTGAAGTTGCTTATCAGCTTAAGGAGACTTTGGGCTGACACAATGGGGTTTTCTAGATATACAATCATGTCATCTGCAAACAGGGACAATTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCCTAATCGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGAGAGAGGGCATCCCTGTCTTGTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTGTGATATTGGCTGTGGGTCTGTCATAGATAGCTCTTATTATTTTGAGATACATCCCATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATTGTGTCAAAGGCCTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTCTTTGGTTCTGTTTATATGCTGGATTACATTTATTCATTTGCGTATATTGAACCAGACTTGCATCCCAGGGATGAAGCCCACTTGATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTATTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTCTTGGTTGAGTCTCTGCCCGGCTTTGGTATCAGGATGATGCTGGCCTCATCAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATA
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Task1_train_5872
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This variant impacts the gene SUMF1 (sulfatase modifying factor 1) on Chromosome 3. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Multiple sulfatase deficiency
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TTACAAAAACATTACTAGAACTAATAAATGAGTTTTGCAAGGTTGCAAGACTCAAGATGAACATAAAAAATCAGTACCATGTAAGTGTACTTAATAAAGTATGTAGGAGTTTAAAAGATATTTTTAAAGAATCTACTGGGAAGCTTATAAAAATGTAGATTACAAATAAGCTAAAAGTTATAAAACATGAAAGTAGATACATTCATACGCATGGAATTAGGACAGTTAATGTCCTTTACTTGCTTAAAATGTTTTTTACAAGCTTCTGTTACCCCATTTATTCTTGATGAAAAATCTTCTGGTCCTCAATTACTTAGAAAGTAAATGGATTCTGAATTTAGAAAAGTGCCATATGCCAGAGACATAACTGGTGACAATTAGGATTTTGAGATACTACTGTACAAAGAGAGATTCACCTGTTTTCCATGGAAGTCTGGTTTCCTGGCAAGAAGATCCAGGTACATTTGTAGCAATAACTTCAAATAGAGAAGCAATCTGGGATTAAAGACTCTGATGTATACGTGAACATGTAAATATATTGGGAAGACCTGGGACAATGCTTTTAATTTAAAATTAAAACTAGGATTTTAGGCCGGGCACAGTGGCTGATGCCTGTAATCCCAACACTTTGGGAAGCAAAGGCAGGAAGAATTTCCTGAGCCCAAATGTTCAAGACCAGCCTAGGCAACATGGCAAGACCCCATCTCTAAAAAAAATTTAAAAATTAGCCAAGTTACTTAGGAGGCTGAGATGGGAGGATCGCTTGAGCCCAGGAGGTCGGGGCTGTAGTGAGCTGTGATTGTGCCACTGCACCTCAGTCTGGGTGAAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATTTCATGAAAATAAATTGGTCTACATCTTATTACCAATGTAGGTCTAAAGCATCAATTGAGCTCTGCTCTATGAACTTCAACCTGAATCACTGGATTAAAAATTCTAAGAAATACAGAAGATACACATACATACAAACTCACATATATACATAAAATCTAGAGAGATTTGCTTTAGGCTAGTGATTCCCGAACTTGGCTGTATGTTTTCATCACCTGGAGAGCTTTAAAAAATGCAATGCCCAGCTCACACTGAAGAAAAATCAAATCAGAATGGGGGTGAGTGAGGAGCCAGACATCAGTATTTTATATAGATCCCAGATGATTACAATGTGGAATAAAGTTTGAGAACCACTGTTTAAGACAAAATTTGATAATGCCATCATTATCAAATTAGTAACTTAATTTGGAGCCATTATAGGTGGTTTTAAGTCTCTAACCACCTGGACTGAATAAATTCCTAGGGGAAGCTTTGAGGCAATAACAATCTGCAAAATGCCATCTCTGCACAGGGATAGAAAGCTGGAGTTCAGGAGACGTGAAAAATATATGACTCAAAGAAAAAAGGGAAGGGATGGTATTCTATTTCCAAATTCCTTATAAAGGTTATTTAGGAAACACCAAGTCACTCTAACTGATGAAGAAAGCCAGCTCAGACACTAAAATCATAGCCCAAAGAGAAGAAACACTCTCTGGGAATGATGCTTATTTCACAAGGCACACTTTGTACCTAGAACACGGGATGCTTCCATTTCAGTATATCACAATCTGCCCTCCATACATAACTCTCACCTGAATCTCAACAGAAAATCCAGAAATGTACAGGATTCTCAAATAAATTAAGGGTGTGCTTTCAGACTTACATGCTGGAAAAGTTATATACACCCACCCCTGTGCAGTTCGTGGGACAACAAAGGTCTCTCAAAGGGGCAAGATTCAATAGATGAAATTTGGTTGACAATAGGTCATTCACAACCTTTGTTACTTGTGTTACTTTTCTCCATGCTTGTAACCAAATTTGAGATGACTGTCCTCCTTTTTTTCTGGTTTCAGTGGGGTTAGGTAGGCATTTGCAGAAGTGAATGAGACATTTGGGGCTATCATTTACAATGGATCCATAAAACTGCTATCAGAACAAGAACGGCAAAACAGTTTAGTGACATGACTTACCCTATGGCACATGTAGGATCCACCTTTCTTCACTCGGTCTTTCCCAGAAGGGGGACCTTTCTACAGATGAAGAAAAAAGGCTATGTTAGACCAGAAGGCAAAGCTGCCCCTTACACAGTGGGAGAGAATCCACTTTGATCCAACCAGCTCTCTCATGGTTGCCTAAACTCTCCACATGCATTTCCACCCCTAGGCTTTGTATCTGTATTCGTGGGCTCTCCCAAATGCTCACCTCCCCAAATCCTACCCATCTTCTAAGGCCCACCTCAAGTTTCCACTCTTTGGTGAAGTCTTCGTAACTACAGGAAGCAATCCTGTCTCTAAGTCCCTACAGCATTTCTTGCCTAGATGACTAATAAGCTGCTTGGCTGCACCTCTTACCATGTCATGATGCAAATTTATCCTGTGTTATAACTGGTTTACTCATCTACACTGGCAAGCCTCTTTGAATTGCATGGTATTTTTTGAAACAAAAATTTTTCTTGAGACAGGGTCTCCTTCTGTCACCCAGGCTGGAGTGCAGTGCTGTGATCATAGCTCACTACAGCCTTGACCACCTGGGCTCAAGCAATCCTCCCTCCTCAGCCTCCCAAGTAGCTAGAACCACAGGCATGAACCACCATGCCCAGCTAATTTTTAAAAATTATTATTTGTAGAGACAGGGTCTCGCTATATTGCCCAGGCTGGTCTTGAACTACTGAGCTCAAGTGACCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGCAACACCATGCCAAGCCAGAATTATATGTTTTTATAATCCCGCTGTGTAATACTTAATAAATAGTTTGCTGATTGAATGAAAGAGTTTGCTTGTTAGCCTTAAAAAAATTTAGGTGTGCTTTATTAAGATATAATTAATATACAGTAAAATTCATCCTTTTTAAGTGCACAGTTCCAGTGAGTTTTGACAAACATATATAGTCATGTAACCGCTACCACAATCAAGACATACAACATGGTTTATCTTGAAGAAAAAAAAAAAGACACATATACGTACTATGAACCAGGCACAGTTTGAGCACTTTACAAATATTAACTCAGGTATTCTCCATCCAACCTTGGAGGTAGGTTAAGTTACTGGTAAAATAAGTGGCACAGTCAGGCAGCCTTGCTCCAGAGTCCATGCTCTGAGGCACTCCACTGCGCTCCCACTTAGAGACAAGAAGTGTAGGAAATTAGGCAATGCTTAAAAGGAGGCAAGGAAGAGCAGCGTCTACCACTGTAATAAGAATTAACATCTACACAGAGCCAGTATAATGGCAAGACTTTTTTCTAGGAAGGGCTTCAGATAAAAGTTCAAAGGAAATGAAAATCCTAAAGCATCAGTTGCCAAGATAAAAGCCTCAACATCAGGTAAGGCATACACAGCATCTGAGAGGTACCAATAAATAGGCTCTAATAAGCCAGAACCGTATCAGGGGAGTCTATGGGGAAAGGGATTTATCTCCTTTTTTTGTTCAAAAAGACAATTAATCACACACCTGTCTACTATTTGCTCCAAAAACGCAAGAGGCCGGGACAACCCCACTCCTATCTTAGTTTTTCCTTCTCCTGTGACCCAAAAGCACCCTTACTTAAGTGGCAGAAATTAAAAGAATCACGTTTTCTCCAAGCATGGCTAATGTACTTTCTTGCAAATGTAAACCATGTGGGCAGAAGTGCACATTACCTTCTAAGCATTTCCAGGTACAGATGCTCCTTAGCATGGGATTAGGTCCTGTCCTGATAAATCCATCATAAGTTGAAAATATTATTAAGTCAAAAATGCATTTAATACTCCTAACCTACCCAACATCACAGCTTAGCCTAGCCTACCTTAAACATGTTCAGAACACTCATGTTAGTCTGTAGTTGGGCAAATCATCTAAGAACACAAAGCCTATTTTATAATAAATTGTGGAATATATCATGTAAATTGCTGAATACTGAACTGAAAGTGGAAAACAGAATGGTTGTATGGATACTTAAACCACAGTTTCTACCAAAGGCATATCACTTTTGCACAATTGTAAACTCAAAAAA
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TTACAAAAACATTACTAGAACTAATAAATGAGTTTTGCAAGGTTGCAAGACTCAAGATGAACATAAAAAATCAGTACCATGTAAGTGTACTTAATAAAGTATGTAGGAGTTTAAAAGATATTTTTAAAGAATCTACTGGGAAGCTTATAAAAATGTAGATTACAAATAAGCTAAAAGTTATAAAACATGAAAGTAGATACATTCATACGCATGGAATTAGGACAGTTAATGTCCTTTACTTGCTTAAAATGTTTTTTACAAGCTTCTGTTACCCCATTTATTCTTGATGAAAAATCTTCTGGTCCTCAATTACTTAGAAAGTAAATGGATTCTGAATTTAGAAAAGTGCCATATGCCAGAGACATAACTGGTGACAATTAGGATTTTGAGATACTACTGTACAAAGAGAGATTCACCTGTTTTCCATGGAAGTCTGGTTTCCTGGCAAGAAGATCCAGGTACATTTGTAGCAATAACTTCAAATAGAGAAGCAATCTGGGATTAAAGACTCTGATGTATACGTGAACATGTAAATATATTGGGAAGACCTGGGACAATGCTTTTAATTTAAAATTAAAACTAGGATTTTAGGCCGGGCACAGTGGCTGATGCCTGTAATCCCAACACTTTGGGAAGCAAAGGCAGGAAGAATTTCCTGAGCCCAAATGTTCAAGACCAGCCTAGGCAACATGGCAAGACCCCATCTCTAAAAAAAATTTAAAAATTAGCCAAGTTACTTAGGAGGCTGAGATGGGAGGATCGCTTGAGCCCAGGAGGTCGGGGCTGTAGTGAGCTGTGATTGTGCCACTGCACCTCAGTCTGGGTGAAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATTTCATGAAAATAAATTGGTCTACATCTTATTACCAATGTAGGTCTAAAGCATCAATTGAGCTCTGCTCTATGAACTTCAACCTGAATCACTGGATTAAAAATTCTAAGAAATACAGAAGATACACATACATACAAACTCACATATATACATAAAATCTAGAGAGATTTGCTTTAGGCTAGTGATTCCCGAACTTGGCTGTATGTTTTCATCACCTGGAGAGCTTTAAAAAATGCAATGCCCAGCTCACACTGAAGAAAAATCAAATCAGAATGGGGGTGAGTGAGGAGCCAGACATCAGTATTTTATATAGATCCCAGATGATTACAATGTGGAATAAAGTTTGAGAACCACTGTTTAAGACAAAATTTGATAATGCCATCATTATCAAATTAGTAACTTAATTTGGAGCCATTATAGGTGGTTTTAAGTCTCTAACCACCTGGACTGAATAAATTCCTAGGGGAAGCTTTGAGGCAATAACAATCTGCAAAATGCCATCTCTGCACAGGGATAGAAAGCTGGAGTTCAGGAGACGTGAAAAATATATGACTCAAAGAAAAAAGGGAAGGGATGGTATTCTATTTCCAAATTCCTTATAAAGGTTATTTAGGAAACACCAAGTCACTCTAACTGATGAAGAAAGCCAGCTCAGACACTAAAATCATAGCCCAAAGAGAAGAAACACTCTCTGGGAATGATGCTTATTTCACAAGGCACACTTTGTACCTAGAACACGGGATGCTTCCATTTCAGTATATCACAATCTGCCCTCCATACATAACTCTCACCTGAATCTCAACAGAAAATCCAGAAATGTACAGGATTCTCAAATAAATTAAGGGTGTGCTTTCAGACTTACATGCTGGAAAAGTTATATACACCCACCCCTGTGCAGTTCGTGGGACAACAAAGGTCTCTCAAAGGGGCAAGATTCAATAGATGAAATTTGGTTGACAATAGGTCATTCACAACCTTTGTTACTTGTGTTACTTTTCTCCATGCTTGTAACCAAATTTGAGATGACTGTCCTCCTTTTTTTCTGGTTTCAGTGGGGTTAGGTAGGCATTTGCAGAAGTGAATGAGACATTTGGGGCTATCATTTACAATGGATCCATAAAACTGCTATCAGAACAAGAACGGCAAAACAGTTTAGTGACATGACTTACCCTATGGCGCATGTAGGATCCACCTTTCTTCACTCGGTCTTTCCCAGAAGGGGGACCTTTCTACAGATGAAGAAAAAAGGCTATGTTAGACCAGAAGGCAAAGCTGCCCCTTACACAGTGGGAGAGAATCCACTTTGATCCAACCAGCTCTCTCATGGTTGCCTAAACTCTCCACATGCATTTCCACCCCTAGGCTTTGTATCTGTATTCGTGGGCTCTCCCAAATGCTCACCTCCCCAAATCCTACCCATCTTCTAAGGCCCACCTCAAGTTTCCACTCTTTGGTGAAGTCTTCGTAACTACAGGAAGCAATCCTGTCTCTAAGTCCCTACAGCATTTCTTGCCTAGATGACTAATAAGCTGCTTGGCTGCACCTCTTACCATGTCATGATGCAAATTTATCCTGTGTTATAACTGGTTTACTCATCTACACTGGCAAGCCTCTTTGAATTGCATGGTATTTTTTGAAACAAAAATTTTTCTTGAGACAGGGTCTCCTTCTGTCACCCAGGCTGGAGTGCAGTGCTGTGATCATAGCTCACTACAGCCTTGACCACCTGGGCTCAAGCAATCCTCCCTCCTCAGCCTCCCAAGTAGCTAGAACCACAGGCATGAACCACCATGCCCAGCTAATTTTTAAAAATTATTATTTGTAGAGACAGGGTCTCGCTATATTGCCCAGGCTGGTCTTGAACTACTGAGCTCAAGTGACCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGCAACACCATGCCAAGCCAGAATTATATGTTTTTATAATCCCGCTGTGTAATACTTAATAAATAGTTTGCTGATTGAATGAAAGAGTTTGCTTGTTAGCCTTAAAAAAATTTAGGTGTGCTTTATTAAGATATAATTAATATACAGTAAAATTCATCCTTTTTAAGTGCACAGTTCCAGTGAGTTTTGACAAACATATATAGTCATGTAACCGCTACCACAATCAAGACATACAACATGGTTTATCTTGAAGAAAAAAAAAAAGACACATATACGTACTATGAACCAGGCACAGTTTGAGCACTTTACAAATATTAACTCAGGTATTCTCCATCCAACCTTGGAGGTAGGTTAAGTTACTGGTAAAATAAGTGGCACAGTCAGGCAGCCTTGCTCCAGAGTCCATGCTCTGAGGCACTCCACTGCGCTCCCACTTAGAGACAAGAAGTGTAGGAAATTAGGCAATGCTTAAAAGGAGGCAAGGAAGAGCAGCGTCTACCACTGTAATAAGAATTAACATCTACACAGAGCCAGTATAATGGCAAGACTTTTTTCTAGGAAGGGCTTCAGATAAAAGTTCAAAGGAAATGAAAATCCTAAAGCATCAGTTGCCAAGATAAAAGCCTCAACATCAGGTAAGGCATACACAGCATCTGAGAGGTACCAATAAATAGGCTCTAATAAGCCAGAACCGTATCAGGGGAGTCTATGGGGAAAGGGATTTATCTCCTTTTTTTGTTCAAAAAGACAATTAATCACACACCTGTCTACTATTTGCTCCAAAAACGCAAGAGGCCGGGACAACCCCACTCCTATCTTAGTTTTTCCTTCTCCTGTGACCCAAAAGCACCCTTACTTAAGTGGCAGAAATTAAAAGAATCACGTTTTCTCCAAGCATGGCTAATGTACTTTCTTGCAAATGTAAACCATGTGGGCAGAAGTGCACATTACCTTCTAAGCATTTCCAGGTACAGATGCTCCTTAGCATGGGATTAGGTCCTGTCCTGATAAATCCATCATAAGTTGAAAATATTATTAAGTCAAAAATGCATTTAATACTCCTAACCTACCCAACATCACAGCTTAGCCTAGCCTACCTTAAACATGTTCAGAACACTCATGTTAGTCTGTAGTTGGGCAAATCATCTAAGAACACAAAGCCTATTTTATAATAAATTGTGGAATATATCATGTAAATTGCTGAATACTGAACTGAAAGTGGAAAACAGAATGGTTGTATGGATACTTAAACCACAGTTTCTACCAAAGGCATATCACTTTTGCACAATTGTAAACTCAAAAAA
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Task1_train_5873
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A genomic change on Chromosome 3 affects SUMF1 (sulfatase modifying factor 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Multiple sulfatase deficiency
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CAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGGAGTGAGCCACGATCACGCCACTGCACTCCAGCCTCGGCAACAGAGTAAGACTCCATCTCAAAAAAAAAAAAAAAAAAACAGACAGAAAAATAAAAGAAATGATTATCACGGTCTTGTCCAAATGAGGGCCACAAAAGCCATCACCTGTGTCTTTGGAATGGAGCTCATTTCAAATGAGCATATGATTATGCCAACAAAAGAATGGTGAGAAAGGAACTCTTGTACACCCATAAAGGAAAACATGCCCCAAGTGTTCTGGAAAATAATTCAACCATATATCTGAAACTCTTACCAAGAAAAGTTTTCTAACCTTTGACTCAATCATTTCACTGCTGGGAATCTATCTTTAAAAAATCATCAAAGGGCCAGGTGCGGTGGCTCATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCGGGAGGATCGCCTGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGTTGAAATGGGAGAATTGGTTGAACCCAGGAGACAGAGGTTGCAGTGAGCCAAGATTACACCACTGCACTACAGCCTGAGTGACAGAGTGAGACTCCATCTCAAAAATAAATAAATAAATAAGTAAATAAAATGGCTCAAGGTTGAAGTGAGTGCTCTTTTGCCCGCCTTCTGCCTTCTGCCAGGGGAGGACACAGCATTAGTCCCTTCTGGTGGATGCAGCCGACATCAATCATGCTGCTGCCTTGGTCTTAGACTTCCCAGCCTCCAGAATTGCAAGAAATAAATTTCTGTTGTTTACAAATTATCCAGTCTGTAGTATTTTCTTACAGTAGCACAAAGGGACTAAGACTAAGACATGGCTTTATGAGTATATGATTATGCCAGCAAAAGAACGGTGAGAAAAGATTTCTTATACACCAATAGAGGAAAACATGCCCCAAGCATTCTGGAAAACAGTTTGGCCATATATCTGAAACTCTTACCCAGAAAGTTTTCTAGACTTTGAATTATTTCACTGCTGGGAATCTAATCTATCTTTCAAAAATCATCAAAGACGTAGGTTAATATTTATGTACAAGATGTTCACTGTAGAAAAAAAAAACAGAAATAACCTGTTTCCAGTAAATACATTGGGGTTTATTTATGACAGGTTATCCAGCTGCTGAAAGACAATGTATTTGTGGCATACTGCTAATGACAGATGAAACGTTTCTGATATAGGCAGGAAAAAATAGTAGGATTTTAAATACTGTATCCAGTCTTACCTAAATGCAATATGTAAAAAAATATGATACATATACACCAGAAACACATATGCTGGCAAATACGGTAGTTAAGAGCATGGGCTTTGGAAATAAACCGACCTGGTTCAAATTCCAGCTGTGCCGCTTTCCAGCTGTGTAACCTTGAGCAAGTTAGTTAACCTCTCTGTGCCTCAGAATGCTCACCTGGAAAATGGGGATAATAGTACCTACCTTACAGAGTTGAATGGACAGTAAATGAGACAATTCATGCAAATGCCTTGGCGCACAATGCCCAGCACATTGCAAGCACTCAATAACTACACGCCATTATTAGCATCATCAACACAGAGAACAAATGGGGAAGAAATGCACCAATATGCTAACAGGTATTATTTCTGGGTGGTAGAATTCCAGGACAGTTTAGCTTTCTCCTTTATAGTCTTCTCATTTTTCCAAATAATCTACAGTAAGTATTATGGAATCAGAAAGGGAAATCCATTATACAAAAAGAAAATCTGTTTAATTATTAGTATTTGCTACGTGCAACAGTGAATGCATACACGAAGGGAACACCGTGTGAGTCACAAAGTGAGCAATGCCTTTCACCCCATGTCTACTGGGAGCCTCAGTTCTCAGCAGCTGCCACCCTCCTGCAGAGGTCTCATTACTCACAGGCGCAGTTCCTTGGAAGCCATCCTCACCAGTGTTGGTCACCGGAAACTCGCCCTGCCAAATGTTGGCATAATGCTGGCCTTTGGGCTGCAGTTTGTTGCCCCAGGGGAAAAGTCTGTCAGAAGAGACACAGGCATCAGCCTGTCAAACAGGCACAGGTTTTGGATGAAAGTCAAGAGAAGGGATGCAATGAAAAAGAGAACATTGCTTGCTTGTTCTGAGTGAGCCAGTTAAAATATATATATAAATAAATAAAGCTTTTAATCAGGATTTATTTTCAATTTCCTTATAACTTCTCATGTCACGTCCACAACAGCCTCAGTCTTGCCCAGGTACTCAGGAGGCCTGAAATAAATCACAAAACTAAAAGAAGGACTTATAGAAAGCTGGGAGAGTAGACCTCATTTTGGACTTATATGGTAGTGTGATCAGGCACCACCACACCACACTTTTTTATAAAGCCTGGGCTATTTTAAGGAGCCTTTCCTAGAAGATGTGAACCCAACATGAGTTTTCTGTCTCATGGCTCTAGAAGCAGAGACATACCGCTGCTTCAGGAGATGCCTAAAATAAGAAAATGCTAAAAGCAGGGCAGTCTGCCAAGAAGTTCTAAGCAGTGATATGTAACTCAAGGGGGTTGAATTGCTAAGACTTGCTTTGGGGCTGGAGGGAGCCCACTTGGCCAGACACTTGGTTTAGGGGTGATAAAAGATTTGTGACCCATTCTCCAGTGTCTTCTAAGTAATTTCGTGGAAAAATAAGAAAAAGAATTATTGTCGTTATTAACTTTCTAACCAAAGTAAGTTCCATGGAGTTTTTTGTTGTTGTTTGTTTGTTCAAATGACCAACATATTGTCAGGCAAAATGAGATCCTCTAAATACCTATTATGCAGGCCTCCTCGACAGCTGTATTCCCACTCAGCTTCCGTGGGCAGCCGCTTCCCTGCCCAAGTGCAGTAGGCAACCGCATCATTCCAGGACACATGGAGAACTGGATGATCCGGCCTGGGGAAGAGCAAAAGTAGAATGAAAAGTGACACCAATCAGAACAAGAAGCAGGAGCTGGCTTCAGCAAAGCGCCCATAATCCCCCTCAGTTCAATCTGTGACACTGAGGTCATCCTGGTCCTTAAGTCAAACCCCAGCCATGCTACATCTGTCATGCTCCACCAACGGTTTCTGACAACCCAGGCTCCCAAATGGGTTACAGTTCCACTGGGAACTAGACTCAAAACATTTCTTCACTTTGTAGGCTCGGATTCCCACAGAATGTCATTGGTATGGCAGATGCGGAGATACTCCAGCTGCTAGGAGGGCCAGCAGGAGCTTTCAGCTCCTTTGGGGTTCAGCAGAGCTGACAGCCATCTCAGAGAAACCAGTGACTAACCAACCACAGCAGGGGCATACAGAGCCAGCCATTTCAGCCTACAGTGGCTCAACCTATGGGCCATATACACCCTAGAGGCCCCTGTGTTGGGTGGAGCTTGGTTGGACCTGCATTGTGGCTTTGACTTCTCCCTCTGCCCAGTCCTGCTCTGGCCCCTGCTTTCTACAGGTGTGGGGCCCTAACATTCTGCATCCTAAACTCTGTTTCAGCCTCTGTTTCCAGAGAACCCAACCTGTGACCCTTGGCTTTCAATTCTGTGTCTTTCTACTTTTCCTCTACAAGAGGCCGGTCTTTTTTTCCTGAGGGTATAAAGGGTGTGGAAGTTTGGGGAAAAAAAACTGAGAAAAAGGGGATAGACTCATTCACCCAGCACTAGATGGCTTTGGCTGAATTCCCTGCTCACTTTTTTAAAAGTGGGCTACAAATTCCTAGTCCATTCCTTATACACCTTTGAATTCCCCACAGTAATTACACCAGGCCTTTCATTTATTCTTTCAACAAACATCTACTGAGTACCTATCATGTGCCAGTCACTGTTTCCAGCACAGACAACAGAGGTACTCTTCTCAGAAGATCCATCGGTGTTGACTGCATGGATAACATACATTCCCCTTTTGGGTTTTCCTTCCTCCCTTAGCATTTTCCTCTGTTACTAAATTCAGGAAAGCAGATATTAACTGGGAGCTAAGAAGCCAAGTCCACCTGAGAAACCCA
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CAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGGAGTGAGCCACGATCACGCCACTGCACTCCAGCCTCGGCAACAGAGTAAGACTCCATCTCAAAAAAAAAAAAAAAAAAACAGACAGAAAAATAAAAGAAATGATTATCACGGTCTTGTCCAAATGAGGGCCACAAAAGCCATCACCTGTGTCTTTGGAATGGAGCTCATTTCAAATGAGCATATGATTATGCCAACAAAAGAATGGTGAGAAAGGAACTCTTGTACACCCATAAAGGAAAACATGCCCCAAGTGTTCTGGAAAATAATTCAACCATATATCTGAAACTCTTACCAAGAAAAGTTTTCTAACCTTTGACTCAATCATTTCACTGCTGGGAATCTATCTTTAAAAAATCATCAAAGGGCCAGGTGCGGTGGCTCATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCGGGAGGATCGCCTGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGTTGAAATGGGAGAATTGGTTGAACCCAGGAGACAGAGGTTGCAGTGAGCCAAGATTACACCACTGCACTACAGCCTGAGTGACAGAGTGAGACTCCATCTCAAAAATAAATAAATAAATAAGTAAATAAAATGGCTCAAGGTTGAAGTGAGTGCTCTTTTGCCCGCCTTCTGCCTTCTGCCAGGGGAGGACACAGCATTAGTCCCTTCTGGTGGATGCAGCCGACATCAATCATGCTGCTGCCTTGGTCTTAGACTTCCCAGCCTCCAGAATTGCAAGAAATAAATTTCTGTTGTTTACAAATTATCCAGTCTGTAGTATTTTCTTACAGTAGCACAAAGGGACTAAGACTAAGACATGGCTTTATGAGTATATGATTATGCCAGCAAAAGAACGGTGAGAAAAGATTTCTTATACACCAATAGAGGAAAACATGCCCCAAGCATTCTGGAAAACAGTTTGGCCATATATCTGAAACTCTTACCCAGAAAGTTTTCTAGACTTTGAATTATTTCACTGCTGGGAATCTAATCTATCTTTCAAAAATCATCAAAGACGTAGGTTAATATTTATGTACAAGATGTTCACTGTAGAAAAAAAAAACAGAAATAACCTGTTTCCAGTAAATACATTGGGGTTTATTTATGACAGGTTATCCAGCTGCTGAAAGACAATGTATTTGTGGCATACTGCTAATGACAGATGAAACGTTTCTGATATAGGCAGGAAAAAATAGTAGGATTTTAAATACTGTATCCAGTCTTACCTAAATGCAATATGTAAAAAAATATGATACATATACACCAGAAACACATATGCTGGCAAATACGGTAGTTAAGAGCATGGGCTTTGGAAATAAACCGACCTGGTTCAAATTCCAGCTGTGCCGCTTTCCAGCTGTGTAACCTTGAGCAAGTTAGTTAACCTCTCTGTGCCTCAGAATGCTCACCTGGAAAATGGGGATAATAGTACCTACCTTACAGAGTTGAATGGACAGTAAATGAGACAATTCATGCAAATGCCTTGGCGCACAATGCCCAGCACATTGCAAGCACTCAATAACTACACGCCATTATTAGCATCATCAACACAGAGAACAAATGGGGAAGAAATGCACCAATATGCTAACAGGTATTATTTCTGGGTGGTAGAATTCCAGGACAGTTTAGCTTTCTCCTTTATAGTCTTCTCATTTTTCCAAATAATCTACAGTAAGTATTATGGAATCAGAAAGGGAAATCCATTATACAAAAAGAAAATCTGTTTAATTATTAGTATTTGCTACGTGCAACAGTGAATGCATACACGAAGGGAACACCGTGTGAGTCACAAAGTGAGCAATGCCTTTCACCCCATGTCTACTGGGAGCCTCAGTTCTCAGCAGCTGCCACCCTCCTGCAGAGGTCTCATTACTCACAGGCGCAGTTCCTTGGAAGCCATCCTCACCAGTGTTGGTCACCGGAAACTCGACCTGCCAAATGTTGGCATAATGCTGGCCTTTGGGCTGCAGTTTGTTGCCCCAGGGGAAAAGTCTGTCAGAAGAGACACAGGCATCAGCCTGTCAAACAGGCACAGGTTTTGGATGAAAGTCAAGAGAAGGGATGCAATGAAAAAGAGAACATTGCTTGCTTGTTCTGAGTGAGCCAGTTAAAATATATATATAAATAAATAAAGCTTTTAATCAGGATTTATTTTCAATTTCCTTATAACTTCTCATGTCACGTCCACAACAGCCTCAGTCTTGCCCAGGTACTCAGGAGGCCTGAAATAAATCACAAAACTAAAAGAAGGACTTATAGAAAGCTGGGAGAGTAGACCTCATTTTGGACTTATATGGTAGTGTGATCAGGCACCACCACACCACACTTTTTTATAAAGCCTGGGCTATTTTAAGGAGCCTTTCCTAGAAGATGTGAACCCAACATGAGTTTTCTGTCTCATGGCTCTAGAAGCAGAGACATACCGCTGCTTCAGGAGATGCCTAAAATAAGAAAATGCTAAAAGCAGGGCAGTCTGCCAAGAAGTTCTAAGCAGTGATATGTAACTCAAGGGGGTTGAATTGCTAAGACTTGCTTTGGGGCTGGAGGGAGCCCACTTGGCCAGACACTTGGTTTAGGGGTGATAAAAGATTTGTGACCCATTCTCCAGTGTCTTCTAAGTAATTTCGTGGAAAAATAAGAAAAAGAATTATTGTCGTTATTAACTTTCTAACCAAAGTAAGTTCCATGGAGTTTTTTGTTGTTGTTTGTTTGTTCAAATGACCAACATATTGTCAGGCAAAATGAGATCCTCTAAATACCTATTATGCAGGCCTCCTCGACAGCTGTATTCCCACTCAGCTTCCGTGGGCAGCCGCTTCCCTGCCCAAGTGCAGTAGGCAACCGCATCATTCCAGGACACATGGAGAACTGGATGATCCGGCCTGGGGAAGAGCAAAAGTAGAATGAAAAGTGACACCAATCAGAACAAGAAGCAGGAGCTGGCTTCAGCAAAGCGCCCATAATCCCCCTCAGTTCAATCTGTGACACTGAGGTCATCCTGGTCCTTAAGTCAAACCCCAGCCATGCTACATCTGTCATGCTCCACCAACGGTTTCTGACAACCCAGGCTCCCAAATGGGTTACAGTTCCACTGGGAACTAGACTCAAAACATTTCTTCACTTTGTAGGCTCGGATTCCCACAGAATGTCATTGGTATGGCAGATGCGGAGATACTCCAGCTGCTAGGAGGGCCAGCAGGAGCTTTCAGCTCCTTTGGGGTTCAGCAGAGCTGACAGCCATCTCAGAGAAACCAGTGACTAACCAACCACAGCAGGGGCATACAGAGCCAGCCATTTCAGCCTACAGTGGCTCAACCTATGGGCCATATACACCCTAGAGGCCCCTGTGTTGGGTGGAGCTTGGTTGGACCTGCATTGTGGCTTTGACTTCTCCCTCTGCCCAGTCCTGCTCTGGCCCCTGCTTTCTACAGGTGTGGGGCCCTAACATTCTGCATCCTAAACTCTGTTTCAGCCTCTGTTTCCAGAGAACCCAACCTGTGACCCTTGGCTTTCAATTCTGTGTCTTTCTACTTTTCCTCTACAAGAGGCCGGTCTTTTTTTCCTGAGGGTATAAAGGGTGTGGAAGTTTGGGGAAAAAAAACTGAGAAAAAGGGGATAGACTCATTCACCCAGCACTAGATGGCTTTGGCTGAATTCCCTGCTCACTTTTTTAAAAGTGGGCTACAAATTCCTAGTCCATTCCTTATACACCTTTGAATTCCCCACAGTAATTACACCAGGCCTTTCATTTATTCTTTCAACAAACATCTACTGAGTACCTATCATGTGCCAGTCACTGTTTCCAGCACAGACAACAGAGGTACTCTTCTCAGAAGATCCATCGGTGTTGACTGCATGGATAACATACATTCCCCTTTTGGGTTTTCCTTCCTCCCTTAGCATTTTCCTCTGTTACTAAATTCAGGAAAGCAGATATTAACTGGGAGCTAAGAAGCCAAGTCCACCTGAGAAACCCA
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Task1_train_5874
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A mutation in SUMF1 (sulfatase modifying factor 1), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Multiple sulfatase deficiency
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TCTTACAGTAGCACAAAGGGACTAAGACTAAGACATGGCTTTATGAGTATATGATTATGCCAGCAAAAGAACGGTGAGAAAAGATTTCTTATACACCAATAGAGGAAAACATGCCCCAAGCATTCTGGAAAACAGTTTGGCCATATATCTGAAACTCTTACCCAGAAAGTTTTCTAGACTTTGAATTATTTCACTGCTGGGAATCTAATCTATCTTTCAAAAATCATCAAAGACGTAGGTTAATATTTATGTACAAGATGTTCACTGTAGAAAAAAAAAACAGAAATAACCTGTTTCCAGTAAATACATTGGGGTTTATTTATGACAGGTTATCCAGCTGCTGAAAGACAATGTATTTGTGGCATACTGCTAATGACAGATGAAACGTTTCTGATATAGGCAGGAAAAAATAGTAGGATTTTAAATACTGTATCCAGTCTTACCTAAATGCAATATGTAAAAAAATATGATACATATACACCAGAAACACATATGCTGGCAAATACGGTAGTTAAGAGCATGGGCTTTGGAAATAAACCGACCTGGTTCAAATTCCAGCTGTGCCGCTTTCCAGCTGTGTAACCTTGAGCAAGTTAGTTAACCTCTCTGTGCCTCAGAATGCTCACCTGGAAAATGGGGATAATAGTACCTACCTTACAGAGTTGAATGGACAGTAAATGAGACAATTCATGCAAATGCCTTGGCGCACAATGCCCAGCACATTGCAAGCACTCAATAACTACACGCCATTATTAGCATCATCAACACAGAGAACAAATGGGGAAGAAATGCACCAATATGCTAACAGGTATTATTTCTGGGTGGTAGAATTCCAGGACAGTTTAGCTTTCTCCTTTATAGTCTTCTCATTTTTCCAAATAATCTACAGTAAGTATTATGGAATCAGAAAGGGAAATCCATTATACAAAAAGAAAATCTGTTTAATTATTAGTATTTGCTACGTGCAACAGTGAATGCATACACGAAGGGAACACCGTGTGAGTCACAAAGTGAGCAATGCCTTTCACCCCATGTCTACTGGGAGCCTCAGTTCTCAGCAGCTGCCACCCTCCTGCAGAGGTCTCATTACTCACAGGCGCAGTTCCTTGGAAGCCATCCTCACCAGTGTTGGTCACCGGAAACTCGCCCTGCCAAATGTTGGCATAATGCTGGCCTTTGGGCTGCAGTTTGTTGCCCCAGGGGAAAAGTCTGTCAGAAGAGACACAGGCATCAGCCTGTCAAACAGGCACAGGTTTTGGATGAAAGTCAAGAGAAGGGATGCAATGAAAAAGAGAACATTGCTTGCTTGTTCTGAGTGAGCCAGTTAAAATATATATATAAATAAATAAAGCTTTTAATCAGGATTTATTTTCAATTTCCTTATAACTTCTCATGTCACGTCCACAACAGCCTCAGTCTTGCCCAGGTACTCAGGAGGCCTGAAATAAATCACAAAACTAAAAGAAGGACTTATAGAAAGCTGGGAGAGTAGACCTCATTTTGGACTTATATGGTAGTGTGATCAGGCACCACCACACCACACTTTTTTATAAAGCCTGGGCTATTTTAAGGAGCCTTTCCTAGAAGATGTGAACCCAACATGAGTTTTCTGTCTCATGGCTCTAGAAGCAGAGACATACCGCTGCTTCAGGAGATGCCTAAAATAAGAAAATGCTAAAAGCAGGGCAGTCTGCCAAGAAGTTCTAAGCAGTGATATGTAACTCAAGGGGGTTGAATTGCTAAGACTTGCTTTGGGGCTGGAGGGAGCCCACTTGGCCAGACACTTGGTTTAGGGGTGATAAAAGATTTGTGACCCATTCTCCAGTGTCTTCTAAGTAATTTCGTGGAAAAATAAGAAAAAGAATTATTGTCGTTATTAACTTTCTAACCAAAGTAAGTTCCATGGAGTTTTTTGTTGTTGTTTGTTTGTTCAAATGACCAACATATTGTCAGGCAAAATGAGATCCTCTAAATACCTATTATGCAGGCCTCCTCGACAGCTGTATTCCCACTCAGCTTCCGTGGGCAGCCGCTTCCCTGCCCAAGTGCAGTAGGCAACCGCATCATTCCAGGACACATGGAGAACTGGATGATCCGGCCTGGGGAAGAGCAAAAGTAGAATGAAAAGTGACACCAATCAGAACAAGAAGCAGGAGCTGGCTTCAGCAAAGCGCCCATAATCCCCCTCAGTTCAATCTGTGACACTGAGGTCATCCTGGTCCTTAAGTCAAACCCCAGCCATGCTACATCTGTCATGCTCCACCAACGGTTTCTGACAACCCAGGCTCCCAAATGGGTTACAGTTCCACTGGGAACTAGACTCAAAACATTTCTTCACTTTGTAGGCTCGGATTCCCACAGAATGTCATTGGTATGGCAGATGCGGAGATACTCCAGCTGCTAGGAGGGCCAGCAGGAGCTTTCAGCTCCTTTGGGGTTCAGCAGAGCTGACAGCCATCTCAGAGAAACCAGTGACTAACCAACCACAGCAGGGGCATACAGAGCCAGCCATTTCAGCCTACAGTGGCTCAACCTATGGGCCATATACACCCTAGAGGCCCCTGTGTTGGGTGGAGCTTGGTTGGACCTGCATTGTGGCTTTGACTTCTCCCTCTGCCCAGTCCTGCTCTGGCCCCTGCTTTCTACAGGTGTGGGGCCCTAACATTCTGCATCCTAAACTCTGTTTCAGCCTCTGTTTCCAGAGAACCCAACCTGTGACCCTTGGCTTTCAATTCTGTGTCTTTCTACTTTTCCTCTACAAGAGGCCGGTCTTTTTTTCCTGAGGGTATAAAGGGTGTGGAAGTTTGGGGAAAAAAAACTGAGAAAAAGGGGATAGACTCATTCACCCAGCACTAGATGGCTTTGGCTGAATTCCCTGCTCACTTTTTTAAAAGTGGGCTACAAATTCCTAGTCCATTCCTTATACACCTTTGAATTCCCCACAGTAATTACACCAGGCCTTTCATTTATTCTTTCAACAAACATCTACTGAGTACCTATCATGTGCCAGTCACTGTTTCCAGCACAGACAACAGAGGTACTCTTCTCAGAAGATCCATCGGTGTTGACTGCATGGATAACATACATTCCCCTTTTGGGTTTTCCTTCCTCCCTTAGCATTTTCCTCTGTTACTAAATTCAGGAAAGCAGATATTAACTGGGAGCTAAGAAGCCAAGTCCACCTGAGAAACCCAGGAATCCTATGACTTTCCACCTCGAAGCCTAATTGCAGCACAGCGGCTTCCAATTGAGGCTTTGAAAGATGTTTGACATTTGTCAAGGGGCTATATCCCTAAAGCTGAACTTCCTATACTCGCAGCTCCCCGACAATAAGGGCAATAACCAGGAATGTTGTTAAAAATAGAGACTTAAAAACTGCATCTGAAAAATTAGGTTAGGAGAGCAGGTTTCTTGGGCTGCTGAGATGCTGAGTCCTAACCCAAACCTTGCTCAATCTCCAGGGTTTAAAGTGTTACTCTATTTTTGCTTGAGATAATTATTTCCTTGCCACCCTGGAGACTTGCTGACCGACTTGGCTCTCTGTGGTTTTCCAGTTAGATGGTGGCTTCAAAGAATTCCAATCTGGAACTCAAGATCATGTGAATCCTATACCCAAGGCCTGGGCTTCCACAGTGGCAACCTGGGAGGACACAATTACTTATCCATAAGACAGACGTCTTCTTCCTCATAGACCCGCTAATAATGGAAACAGAATGTAAAGATTAAACATGTCATGAGGTTTGGAATAGGCCTCTCAAAAGGAGCAGGGAAACTGGGAAGAGGCAACTCTTTGACAAGCCAAATGAGGAGAGAAAGAGGCCACTAATTAAGAGCTTTCTTATGAGCAAGGTGCAGTGTTTGGGTCTTTACATACGTTATTTCCCACCATCTTATTTTCCTACCAATCAATTACAGTTTGTCATTCTTATCATTTTATAGATGAAGATGCCCACTGAGTTCTTTTGCAAGAGCAAAGGGTACCTATTTTGCAATGGAACTTGTCAACTGGGGAAAGAGGGACCAGCCTCACCTGTGCAGAATAGTAGAGTCAGGCCCTTCTGGGTGTCTCCAGTTAGCGCCTTTCACAGGTAACCAC
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TCTTACAGTAGCACAAAGGGACTAAGACTAAGACATGGCTTTATGAGTATATGATTATGCCAGCAAAAGAACGGTGAGAAAAGATTTCTTATACACCAATAGAGGAAAACATGCCCCAAGCATTCTGGAAAACAGTTTGGCCATATATCTGAAACTCTTACCCAGAAAGTTTTCTAGACTTTGAATTATTTCACTGCTGGGAATCTAATCTATCTTTCAAAAATCATCAAAGACGTAGGTTAATATTTATGTACAAGATGTTCACTGTAGAAAAAAAAAACAGAAATAACCTGTTTCCAGTAAATACATTGGGGTTTATTTATGACAGGTTATCCAGCTGCTGAAAGACAATGTATTTGTGGCATACTGCTAATGACAGATGAAACGTTTCTGATATAGGCAGGAAAAAATAGTAGGATTTTAAATACTGTATCCAGTCTTACCTAAATGCAATATGTAAAAAAATATGATACATATACACCAGAAACACATATGCTGGCAAATACGGTAGTTAAGAGCATGGGCTTTGGAAATAAACCGACCTGGTTCAAATTCCAGCTGTGCCGCTTTCCAGCTGTGTAACCTTGAGCAAGTTAGTTAACCTCTCTGTGCCTCAGAATGCTCACCTGGAAAATGGGGATAATAGTACCTACCTTACAGAGTTGAATGGACAGTAAATGAGACAATTCATGCAAATGCCTTGGCGCACAATGCCCAGCACATTGCAAGCACTCAATAACTACACGCCATTATTAGCATCATCAACACAGAGAACAAATGGGGAAGAAATGCACCAATATGCTAACAGGTATTATTTCTGGGTGGTAGAATTCCAGGACAGTTTAGCTTTCTCCTTTATAGTCTTCTCATTTTTCCAAATAATCTACAGTAAGTATTATGGAATCAGAAAGGGAAATCCATTATACAAAAAGAAAATCTGTTTAATTATTAGTATTTGCTACGTGCAACAGTGAATGCATACACGAAGGGAACACCGTGTGAGTCACAAAGTGAGCAATGCCTTTCACCCCATGTCTACTGGGAGCCTCAGTTCTCAGCAGCTGCCACCCTCCTGCAGAGGTCTCATTACTCACAGGCGCAGTTCCTTGGAAGCCATCCTCACCAGTGTTGGTCACCGGAAACTCGCCCTGCCAAATGTTGGCATAATGCTGGCCTTTGGGCTGCAGTTTGTTGCCCCAGGGGAAAAGTCTGTCAGAAGAGACACAGGCATCAGCCTGTCAAACAGGCACAGGTTTTGGATGAAAGTCAAGAGAAGGGATGCAATGAAAAAGAGAACATTGCTTGCTTGTTCTGAGTGAGCCAGTTAAAATATATATATAAATAAATAAAGCTTTTAATCAGGATTTATTTTCAATTTCCTTATAACTTCTCATGTCACGTCCACAACAGCCTCAGTCTTGCCCAGGTACTCAGGAGGCCTGAAATAAATCACAAAACTAAAAGAAGGACTTATAGAAAGCTGGGAGAGTAGACCTCATTTTGGACTTATATGGTAGTGTGATCAGGCACCACCACACCACACTTTTTTATAAAGCCTGGGCTATTTTAAGGAGCCTTTCCTAGAAGATGTGAACCCAACATGAGTTTTCTGTCTCATGGCTCTAGAAGCAGAGACATACCGCTGCTTCAGGAGATGCCTAAAATAAGAAAATGCTAAAAGCAGGGCAGTCTGCCAAGAAGTTCTAAGCAGTGATATGTAACTCAAGGGGGTTGAATTGCTAAGACTTGCTTTGGGGCTGGAGGGAGCCCACTTGGCCAGACACTTGGTTTAGGGGTGATAAAAGATTTGTGACCCATTCTCCAGTGTCTTCTAAGTAATTTCGTGGAAAAATAAGAAAAAGAATTATTGTCGTTATTAACTTTCTAACCAAAGTAAGTTCCATGGAGTTTTTTGTTGTTGTTTGTTTGTTCAAATGACCAACATATTGTCAGGCAAAATGAGATCCTCTAAATACCTATTATGCAGGCCTCCTCGACAGCTGTATTCCCACTCAGCTTCCGTGGGCAGCCGCTTCCCTGCCCAAGTGTAGTAGGCAACCGCATCATTCCAGGACACATGGAGAACTGGATGATCCGGCCTGGGGAAGAGCAAAAGTAGAATGAAAAGTGACACCAATCAGAACAAGAAGCAGGAGCTGGCTTCAGCAAAGCGCCCATAATCCCCCTCAGTTCAATCTGTGACACTGAGGTCATCCTGGTCCTTAAGTCAAACCCCAGCCATGCTACATCTGTCATGCTCCACCAACGGTTTCTGACAACCCAGGCTCCCAAATGGGTTACAGTTCCACTGGGAACTAGACTCAAAACATTTCTTCACTTTGTAGGCTCGGATTCCCACAGAATGTCATTGGTATGGCAGATGCGGAGATACTCCAGCTGCTAGGAGGGCCAGCAGGAGCTTTCAGCTCCTTTGGGGTTCAGCAGAGCTGACAGCCATCTCAGAGAAACCAGTGACTAACCAACCACAGCAGGGGCATACAGAGCCAGCCATTTCAGCCTACAGTGGCTCAACCTATGGGCCATATACACCCTAGAGGCCCCTGTGTTGGGTGGAGCTTGGTTGGACCTGCATTGTGGCTTTGACTTCTCCCTCTGCCCAGTCCTGCTCTGGCCCCTGCTTTCTACAGGTGTGGGGCCCTAACATTCTGCATCCTAAACTCTGTTTCAGCCTCTGTTTCCAGAGAACCCAACCTGTGACCCTTGGCTTTCAATTCTGTGTCTTTCTACTTTTCCTCTACAAGAGGCCGGTCTTTTTTTCCTGAGGGTATAAAGGGTGTGGAAGTTTGGGGAAAAAAAACTGAGAAAAAGGGGATAGACTCATTCACCCAGCACTAGATGGCTTTGGCTGAATTCCCTGCTCACTTTTTTAAAAGTGGGCTACAAATTCCTAGTCCATTCCTTATACACCTTTGAATTCCCCACAGTAATTACACCAGGCCTTTCATTTATTCTTTCAACAAACATCTACTGAGTACCTATCATGTGCCAGTCACTGTTTCCAGCACAGACAACAGAGGTACTCTTCTCAGAAGATCCATCGGTGTTGACTGCATGGATAACATACATTCCCCTTTTGGGTTTTCCTTCCTCCCTTAGCATTTTCCTCTGTTACTAAATTCAGGAAAGCAGATATTAACTGGGAGCTAAGAAGCCAAGTCCACCTGAGAAACCCAGGAATCCTATGACTTTCCACCTCGAAGCCTAATTGCAGCACAGCGGCTTCCAATTGAGGCTTTGAAAGATGTTTGACATTTGTCAAGGGGCTATATCCCTAAAGCTGAACTTCCTATACTCGCAGCTCCCCGACAATAAGGGCAATAACCAGGAATGTTGTTAAAAATAGAGACTTAAAAACTGCATCTGAAAAATTAGGTTAGGAGAGCAGGTTTCTTGGGCTGCTGAGATGCTGAGTCCTAACCCAAACCTTGCTCAATCTCCAGGGTTTAAAGTGTTACTCTATTTTTGCTTGAGATAATTATTTCCTTGCCACCCTGGAGACTTGCTGACCGACTTGGCTCTCTGTGGTTTTCCAGTTAGATGGTGGCTTCAAAGAATTCCAATCTGGAACTCAAGATCATGTGAATCCTATACCCAAGGCCTGGGCTTCCACAGTGGCAACCTGGGAGGACACAATTACTTATCCATAAGACAGACGTCTTCTTCCTCATAGACCCGCTAATAATGGAAACAGAATGTAAAGATTAAACATGTCATGAGGTTTGGAATAGGCCTCTCAAAAGGAGCAGGGAAACTGGGAAGAGGCAACTCTTTGACAAGCCAAATGAGGAGAGAAAGAGGCCACTAATTAAGAGCTTTCTTATGAGCAAGGTGCAGTGTTTGGGTCTTTACATACGTTATTTCCCACCATCTTATTTTCCTACCAATCAATTACAGTTTGTCATTCTTATCATTTTATAGATGAAGATGCCCACTGAGTTCTTTTGCAAGAGCAAAGGGTACCTATTTTGCAATGGAACTTGTCAACTGGGGAAAGAGGGACCAGCCTCACCTGTGCAGAATAGTAGAGTCAGGCCCTTCTGGGTGTCTCCAGTTAGCGCCTTTCACAGGTAACCAC
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Task1_train_5875
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An alteration has been detected in SUMF1 (sulfatase modifying factor 1) on Chromosome 3. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Multiple sulfatase deficiency
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CAACCGCATCATTCCAGGACACATGGAGAACTGGATGATCCGGCCTGGGGAAGAGCAAAAGTAGAATGAAAAGTGACACCAATCAGAACAAGAAGCAGGAGCTGGCTTCAGCAAAGCGCCCATAATCCCCCTCAGTTCAATCTGTGACACTGAGGTCATCCTGGTCCTTAAGTCAAACCCCAGCCATGCTACATCTGTCATGCTCCACCAACGGTTTCTGACAACCCAGGCTCCCAAATGGGTTACAGTTCCACTGGGAACTAGACTCAAAACATTTCTTCACTTTGTAGGCTCGGATTCCCACAGAATGTCATTGGTATGGCAGATGCGGAGATACTCCAGCTGCTAGGAGGGCCAGCAGGAGCTTTCAGCTCCTTTGGGGTTCAGCAGAGCTGACAGCCATCTCAGAGAAACCAGTGACTAACCAACCACAGCAGGGGCATACAGAGCCAGCCATTTCAGCCTACAGTGGCTCAACCTATGGGCCATATACACCCTAGAGGCCCCTGTGTTGGGTGGAGCTTGGTTGGACCTGCATTGTGGCTTTGACTTCTCCCTCTGCCCAGTCCTGCTCTGGCCCCTGCTTTCTACAGGTGTGGGGCCCTAACATTCTGCATCCTAAACTCTGTTTCAGCCTCTGTTTCCAGAGAACCCAACCTGTGACCCTTGGCTTTCAATTCTGTGTCTTTCTACTTTTCCTCTACAAGAGGCCGGTCTTTTTTTCCTGAGGGTATAAAGGGTGTGGAAGTTTGGGGAAAAAAAACTGAGAAAAAGGGGATAGACTCATTCACCCAGCACTAGATGGCTTTGGCTGAATTCCCTGCTCACTTTTTTAAAAGTGGGCTACAAATTCCTAGTCCATTCCTTATACACCTTTGAATTCCCCACAGTAATTACACCAGGCCTTTCATTTATTCTTTCAACAAACATCTACTGAGTACCTATCATGTGCCAGTCACTGTTTCCAGCACAGACAACAGAGGTACTCTTCTCAGAAGATCCATCGGTGTTGACTGCATGGATAACATACATTCCCCTTTTGGGTTTTCCTTCCTCCCTTAGCATTTTCCTCTGTTACTAAATTCAGGAAAGCAGATATTAACTGGGAGCTAAGAAGCCAAGTCCACCTGAGAAACCCAGGAATCCTATGACTTTCCACCTCGAAGCCTAATTGCAGCACAGCGGCTTCCAATTGAGGCTTTGAAAGATGTTTGACATTTGTCAAGGGGCTATATCCCTAAAGCTGAACTTCCTATACTCGCAGCTCCCCGACAATAAGGGCAATAACCAGGAATGTTGTTAAAAATAGAGACTTAAAAACTGCATCTGAAAAATTAGGTTAGGAGAGCAGGTTTCTTGGGCTGCTGAGATGCTGAGTCCTAACCCAAACCTTGCTCAATCTCCAGGGTTTAAAGTGTTACTCTATTTTTGCTTGAGATAATTATTTCCTTGCCACCCTGGAGACTTGCTGACCGACTTGGCTCTCTGTGGTTTTCCAGTTAGATGGTGGCTTCAAAGAATTCCAATCTGGAACTCAAGATCATGTGAATCCTATACCCAAGGCCTGGGCTTCCACAGTGGCAACCTGGGAGGACACAATTACTTATCCATAAGACAGACGTCTTCTTCCTCATAGACCCGCTAATAATGGAAACAGAATGTAAAGATTAAACATGTCATGAGGTTTGGAATAGGCCTCTCAAAAGGAGCAGGGAAACTGGGAAGAGGCAACTCTTTGACAAGCCAAATGAGGAGAGAAAGAGGCCACTAATTAAGAGCTTTCTTATGAGCAAGGTGCAGTGTTTGGGTCTTTACATACGTTATTTCCCACCATCTTATTTTCCTACCAATCAATTACAGTTTGTCATTCTTATCATTTTATAGATGAAGATGCCCACTGAGTTCTTTTGCAAGAGCAAAGGGTACCTATTTTGCAATGGAACTTGTCAACTGGGGAAAGAGGGACCAGCCTCACCTGTGCAGAATAGTAGAGTCAGGCCCTTCTGGGTGTCTCCAGTTAGCGCCTTTCACAGGTAACCACCAGGGAGCAGCTGCAACCTCAAAGCAACCCAGAACAGGCTGATGTTAGCTACTAACATCAACTCTAGAAAAATATCAACTCAGTACATGCAGCAAAAATCTCAATGTCTTCAACTTCCATTTGGATTACCAAACAAATACATTTGCCAGAATACCAAAATAAAGACTTATATGTAAATAAATCTTTAACAAAAAAAGTATTACTTCATATCATAAAGCCTCACAGCAAACAAATACATATGTATTTAAATGGTGTATATCTATAAGAATTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGGGGTTGCAATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAACCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGACTACAGGCACGTGCCAGCAAGCCCAGCGAATTTTTTGTATTTTTACTAGAGACAGGGTTTCACTCTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACCACACCCGGCCTCTGTAAGAATTTTTAAAAAGTGCATGGCTAGCCAATCCTCTATAATCTCTAACAAGTGAGACAGGTAGTGCTGCTCCTATTTAAAAGATGAGGAAACAGAGTTAACCCTACAATTAAATGTGAGGCTAAAGGTCAACCATGGTGGTCAGAGATCAAGCTGAAGCACAGAAGAAAAAATGGGGTGTATTTTCAAAAGACCCCGATTCAACTTCCAACCCAACATTAGCTGGGTGACCCTGGGCAAGTTCACTACTTGTCTGGACCCTCCTAGTCCTTGTCTGTGAAATGGGAGCACACCCACCTGCCTCACCTAACTCAGAATACAGAGGTCAAGTGAGGTAAGATTGGAAAATGCTCAGCAAACAGTAACTAGAACCTTAACTCCTACTTTATGGTTCTGTTAACCAAAATAACAACAGTCAGGAGTCCTCATTTAGTGAGTGGTTTAGTTAGGAACACAGGCTTTGGAGCCAGTCAAAATGAGATTTGAATCATGGCTCTGCTGTTCACGGTGTGACCCTAGGCAACTTATTTAACCTCTTTCCCCAAGCCTGTTTTCTCATGTGGGGATACAGATAGTAACAGCACCTATATCTTGGGTTATTACAAGGAGGAAATATAATACGCATACAGGACTTATGACTATGCCCTTAGCAACTGAGGTTAATGACTCAGCAAGCACTCAGTAAAGGGAACCAGTCTCACTATGGCCCCATGACACTCAGTCACAAGGAGAGCCACAAAAACTAATCATTGTTGCTAATACTAGCTAAAGAACAGATGTTGCAAATGATTCTTTTTGAGACAGGGTCTCACCCTGTCCCCTAGGCTGGAGAACAGTGGCACGGTCATGGCTCACTGCAGCCTTGACCTCCTCAGCTCAAGTGATCCTCCCGCCTCACCATCCCAAGTACCTGGGACCACAGGTGTGCGCCACAATGCCCAGCTAAATTTTTTGTATTTTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTACTGGGCTCCAGTGATCCCTGCCCAACTTGGCCTCCCAAGGTGCTGGGATTACAGGTGTAAGCTACTGCACCTGGCCTGCAAATGATTCTTCTAATACAAATACAAATACAAAAGAAAGTGACTCAAGGTTATCCCCACAACAATGTTACTCTTTGATTGTTTTCATCCTTTTGAGCTTGTCTGAGTAGAAGTTAAGGGAGAATATGTCCCTGCTAACAATTACAGCAATCACTGAAAACACCAAGCCCCATTCTTGTTCATTCTCTTTTCACATCAACACAATCAGAACATTCATGATATCTCAATCACAATTTGATGGGAAAACCCAATTTTTAAAATATTTCAACAAAAGAAGGCATTAGGTCCTTAAATGACACTATAGCAAGGTGTTTTATTTTACAGAGAACAGGGGAGTGAAGAGGCATGGCTTCTTTCTATTTCATTTGTGGCGCTGTAGAAGTTCCTCTGGGGGCTGT
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CAACCGCATCATTCCAGGACACATGGAGAACTGGATGATCCGGCCTGGGGAAGAGCAAAAGTAGAATGAAAAGTGACACCAATCAGAACAAGAAGCAGGAGCTGGCTTCAGCAAAGCGCCCATAATCCCCCTCAGTTCAATCTGTGACACTGAGGTCATCCTGGTCCTTAAGTCAAACCCCAGCCATGCTACATCTGTCATGCTCCACCAACGGTTTCTGACAACCCAGGCTCCCAAATGGGTTACAGTTCCACTGGGAACTAGACTCAAAACATTTCTTCACTTTGTAGGCTCGGATTCCCACAGAATGTCATTGGTATGGCAGATGCGGAGATACTCCAGCTGCTAGGAGGGCCAGCAGGAGCTTTCAGCTCCTTTGGGGTTCAGCAGAGCTGACAGCCATCTCAGAGAAACCAGTGACTAACCAACCACAGCAGGGGCATACAGAGCCAGCCATTTCAGCCTACAGTGGCTCAACCTATGGGCCATATACACCCTAGAGGCCCCTGTGTTGGGTGGAGCTTGGTTGGACCTGCATTGTGGCTTTGACTTCTCCCTCTGCCCAGTCCTGCTCTGGCCCCTGCTTTCTACAGGTGTGGGGCCCTAACATTCTGCATCCTAAACTCTGTTTCAGCCTCTGTTTCCAGAGAACCCAACCTGTGACCCTTGGCTTTCAATTCTGTGTCTTTCTACTTTTCCTCTACAAGAGGCCGGTCTTTTTTTCCTGAGGGTATAAAGGGTGTGGAAGTTTGGGGAAAAAAAACTGAGAAAAAGGGGATAGACTCATTCACCCAGCACTAGATGGCTTTGGCTGAATTCCCTGCTCACTTTTTTAAAAGTGGGCTACAAATTCCTAGTCCATTCCTTATACACCTTTGAATTCCCCACAGTAATTACACCAGGCCTTTCATTTATTCTTTCAACAAACATCTACTGAGTACCTATCATGTGCCAGTCACTGTTTCCAGCACAGACAACAGAGGTACTCTTCTCAGAAGATCCATCGGTGTTGACTGCATGGATAACATACATTCCCCTTTTGGGTTTTCCTTCCTCCCTTAGCATTTTCCTCTGTTACTAAATTCAGGAAAGCAGATATTAACTGGGAGCTAAGAAGCCAAGTCCACCTGAGAAACCCAGGAATCCTATGACTTTCCACCTCGAAGCCTAATTGCAGCACAGCGGCTTCCAATTGAGGCTTTGAAAGATGTTTGACATTTGTCAAGGGGCTATATCCCTAAAGCTGAACTTCCTATACTCGCAGCTCCCCGACAATAAGGGCAATAACCAGGAATGTTGTTAAAAATAGAGACTTAAAAACTGCATCTGAAAAATTAGGTTAGGAGAGCAGGTTTCTTGGGCTGCTGAGATGCTGAGTCCTAACCCAAACCTTGCTCAATCTCCAGGGTTTAAAGTGTTACTCTATTTTTGCTTGAGATAATTATTTCCTTGCCACCCTGGAGACTTGCTGACCGACTTGGCTCTCTGTGGTTTTCCAGTTAGATGGTGGCTTCAAAGAATTCCAATCTGGAACTCAAGATCATGTGAATCCTATACCCAAGGCCTGGGCTTCCACAGTGGCAACCTGGGAGGACACAATTACTTATCCATAAGACAGACGTCTTCTTCCTCATAGACCCGCTAATAATGGAAACAGAATGTAAAGATTAAACATGTCATGAGGTTTGGAATAGGCCTCTCAAAAGGAGCAGGGAAACTGGGAAGAGGCAACTCTTTGACAAGCCAAATGAGGAGAGAAAGAGGCCACTAATTAAGAGCTTTCTTATGAGCAAGGTGCAGTGTTTGGGTCTTTACATACGTTATTTCCCACCATCTTATTTTCCTACCAATCAATTACAGTTTGTCATTCTTATCATTTTATAGATGAAGATGCCCACTGAGTTCTTTTGCAAGAGCAAAGGGTACCTATTTTGCAATGGAACTTGTCAACTGGGGAAAGAGGGACCAGCCTCACCTGTGCAGAATAGTAGAGTCAGGCCCTTCTGGGTGTCTCCAGTTAGCGCCTTTCACAGGTAACCACCAGGGAGGAGCTGCAACCTCAAAGCAACCCAGAACAGGCTGATGTTAGCTACTAACATCAACTCTAGAAAAATATCAACTCAGTACATGCAGCAAAAATCTCAATGTCTTCAACTTCCATTTGGATTACCAAACAAATACATTTGCCAGAATACCAAAATAAAGACTTATATGTAAATAAATCTTTAACAAAAAAAGTATTACTTCATATCATAAAGCCTCACAGCAAACAAATACATATGTATTTAAATGGTGTATATCTATAAGAATTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGGGGTTGCAATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAACCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGACTACAGGCACGTGCCAGCAAGCCCAGCGAATTTTTTGTATTTTTACTAGAGACAGGGTTTCACTCTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACCACACCCGGCCTCTGTAAGAATTTTTAAAAAGTGCATGGCTAGCCAATCCTCTATAATCTCTAACAAGTGAGACAGGTAGTGCTGCTCCTATTTAAAAGATGAGGAAACAGAGTTAACCCTACAATTAAATGTGAGGCTAAAGGTCAACCATGGTGGTCAGAGATCAAGCTGAAGCACAGAAGAAAAAATGGGGTGTATTTTCAAAAGACCCCGATTCAACTTCCAACCCAACATTAGCTGGGTGACCCTGGGCAAGTTCACTACTTGTCTGGACCCTCCTAGTCCTTGTCTGTGAAATGGGAGCACACCCACCTGCCTCACCTAACTCAGAATACAGAGGTCAAGTGAGGTAAGATTGGAAAATGCTCAGCAAACAGTAACTAGAACCTTAACTCCTACTTTATGGTTCTGTTAACCAAAATAACAACAGTCAGGAGTCCTCATTTAGTGAGTGGTTTAGTTAGGAACACAGGCTTTGGAGCCAGTCAAAATGAGATTTGAATCATGGCTCTGCTGTTCACGGTGTGACCCTAGGCAACTTATTTAACCTCTTTCCCCAAGCCTGTTTTCTCATGTGGGGATACAGATAGTAACAGCACCTATATCTTGGGTTATTACAAGGAGGAAATATAATACGCATACAGGACTTATGACTATGCCCTTAGCAACTGAGGTTAATGACTCAGCAAGCACTCAGTAAAGGGAACCAGTCTCACTATGGCCCCATGACACTCAGTCACAAGGAGAGCCACAAAAACTAATCATTGTTGCTAATACTAGCTAAAGAACAGATGTTGCAAATGATTCTTTTTGAGACAGGGTCTCACCCTGTCCCCTAGGCTGGAGAACAGTGGCACGGTCATGGCTCACTGCAGCCTTGACCTCCTCAGCTCAAGTGATCCTCCCGCCTCACCATCCCAAGTACCTGGGACCACAGGTGTGCGCCACAATGCCCAGCTAAATTTTTTGTATTTTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTACTGGGCTCCAGTGATCCCTGCCCAACTTGGCCTCCCAAGGTGCTGGGATTACAGGTGTAAGCTACTGCACCTGGCCTGCAAATGATTCTTCTAATACAAATACAAATACAAAAGAAAGTGACTCAAGGTTATCCCCACAACAATGTTACTCTTTGATTGTTTTCATCCTTTTGAGCTTGTCTGAGTAGAAGTTAAGGGAGAATATGTCCCTGCTAACAATTACAGCAATCACTGAAAACACCAAGCCCCATTCTTGTTCATTCTCTTTTCACATCAACACAATCAGAACATTCATGATATCTCAATCACAATTTGATGGGAAAACCCAATTTTTAAAATATTTCAACAAAAGAAGGCATTAGGTCCTTAAATGACACTATAGCAAGGTGTTTTATTTTACAGAGAACAGGGGAGTGAAGAGGCATGGCTTCTTTCTATTTCATTTGTGGCGCTGTAGAAGTTCCTCTGGGGGCTGT
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Task1_train_5876
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With a mutation on Chromosome 3 in gene SUMF1 (sulfatase modifying factor 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Multiple sulfatase deficiency
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CTTGGCGCGGTGGCTCACGTTTGTAATCCCAGCACGCTGGGAGGCCAAGGCAAGCGGATCACAAGGTCAGGAGATTGAGACCATCCGGGCCAACATGGTGAAACCCCATCTCTATTAAAAATACAAAAATTAGCTGGGTATGGTGGCGTGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAAGGAGAATCATTCGAACCCAGGAGGTGGAGATTGCAGTGAGCGGAGATCGCGCCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCGTCTAAAAAAAAAAAAAAGAAAAGAAAAAAGAAAGAGAGATTGATTATCAATTACCAGGCAAGTTAGAGAGGAATTAATATCAAGTATGGCCAATACACACTAAAACAGTAATCAGGAGTCTTCAACACACAAAAGATAAACAGTACTGCAGGACATGCTCTAAGGGTAACAGGAAAAAAAGTAAAGGCCAAAAATTATACAGGATGGAAAAACAATGAGAAGCCCAGGTATCAACCTCCTACACTCTACACCTGAGAGACTAAATCATGGTCCTGACCCCATCACCCTCACAGTCCAGTTGGGGAGAGACATCAGCAGAAAAACATCTTTAATAATTGTTATGTCAGAATAAACACATAACTACTGAGGCAGGATACGGAAATATTGAAGGGGAGAGAAAGAGGAGATCAGGTAAAACCTACTGTGGATGTTACCTCTCACCTAAGTCCTAAATATTGGTCAGGATTAACCCAAAGGAAAGAAAAATGGAATGGGAAAAGGATAGTGTCTGCTAAGTAAACAAGAAGGAGCACTAGTTTAGGAGTCAGAAGACCTGACCTTTAGACCCATAAGTTGTTTCGACAACACATCAATATGCAAAATACCGGGCAGACAGATTGAAGTAACAGTTATTTCTTTCTTTCTTTTTTTTTTTCGAGACGGAGTCTCGCCCTGTCGCCCAGGCTGGAGTGCAGTGGCAAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCCAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCGCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGTGAGCCACCGCGCCCGGCCAGTAAGTTATTTATATATCCCGGCACCTAACACATACAGGCGCTAAGCAAGACAGATAAATAATAGCAATAAAACAACTACAGTTTGCTTAGCCCTTCCTAAGTGCTAAAGTGCTAAGAATAGCAGGATAAACAATTCAAGCCCTTGTCCTCAAGCAGAGTGTACTCGAGGAGACTACAGATAAGTATACAACAACCCTGGTGAAGATACTGAGACCCAGGATCCTAATTTATTCCGTTAATAAGAGAGGAAATGGTGATTTAAACCATAATTTGATTGCCTTAAAATTATGAGATCCTCATTAAGAGAACAGGTTGGAGGGAGAAAGAAATAGGGGGTAAAGAAGTAACAATAACCCTCAAACCAAACTCCCTAATGGTCAATTAAATGGAGTCTTCCGGTGAGGCACGGAGAAGGAACTCCTCATACGGGAACAGCAGGTGCTCGATTTGGGGTGTGGTTATAACCTTTACTTCCCTTCCTACTAGTGCCTTGCTTTGCCTACTCCAACCCCGTCCAGGAACCGAGCAGCCCCCACCCGCCTCGGAGGAATCGATGGAGCACCTTTGAGTGCGCGAGTTGCCGCTCTCCGGGTACGGGGCCCGGAGCGTTAGCCTCCCGCGAGTATCGGTGAGCGGCTGCCGAACTGCCATGGGCGCCAGGCCGCTGGGGCGTGCCGCAGCCGCAAGAACCCGCAAGGGACCCCGCGCCCGCACCGGTCCCGGCCTCCTGGCTCCCTGCCGCTCCACACAGCAGCGAGAGCAGCAGCAGCAAGAGGACGAGACCCAGCTCAGGGCAACGTCCACACACCAGCCCTAGTGCGGGCGCAGCCATGTTGTCCCGCGGGCCATGTGACCCGGTTGGTCACGTGGCTGAGCCCTCCTTAAAGGGGCAGAATTTTGAGCTGACTTACGAAGTGACCAGGAGAGTTGCTCTTCACCTTTCTTCAGGTACTTCTTTGGCGCTGCTGCTTGCCTGTGCTAACGTCAAAACGCAGCAAAACACAAAACTCCACAAAACTCAAGGCCTTCCACAGACCGTGCACCCCTTTATGATTTCTTGGTTGAAAAATAACAGTCAAATTTGCTGGGCATTTGGTAAGTGCCAGAGTACTATGCTAAGCACTTCACTTTTTAAAATCTCATTTAATCCTCACAAAGACCCAGTAATGGCGCGCTTGTAGTCCCAGCTAGTCGGGAGGCCAAGGCAGGAGAATCGTTTGAACCTGGGAGGCGGAGGTTTCAGTGAGCCCAGATCCCGCCACTGCACTCCAGCCTCGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAGAGAAATACAATACGGAATCAGAATCCGTGGGGACTGGACACAGCAATCCAGGGTTTCACAAGCTCTCCAGATGATTCTAATCCACACTTAAGTTTAAGAACCACTGTTCTACAGTTCCGTAATCGAACAAAATGCAAAACCAAAACAAAAAGAAGATGAAGGAGAAACTTACAGATTAAAAAACAACATAGCAGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCCGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAATCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATGGCGCCACCGCACTCCAGCCTGGGGACAGAGCAAGACTCCATCTGAAAAAAAAAAAAAAAAAAAAAACATAGCAGCCAGCTGCAATATGTGAACCTTATCTAAATACTAATTCAAACCTACTGAGTTCAAAATTTTTGAGATAATCAGGGAAATTTAACCACTAAGTCAAATTATAATATTTGATAAAATTAAGGAATTGCTGTAAATTTTGTTTTTAGGCTTTTAGGAGTAATAATGGTATTTGTGGCTATATTTTTTAAAAGAATCCCCTCACTGAGGTACACACACACTCACTGAGGTATACACACACACACACACACACACACACATATATATATATGGATAAAAATATAGGCAGTCAAAGATTTGCTTCCCAAAAAATGGGTAATCAGGGTCTGGCTAAAGATGAAGCATGATTGGCCATGAGTTGATAACTGTCATAGCTGGTTGATGGGCATCTGGGTGTTTATTGCACTATTCTAATGTAGCATCTGTTTGAATTTTTTTAGCATAAAGAAAAGACCAGCCAGGCACCGTGTCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCAGGAGAATCGCTAGAGGCCAGGAGCTTGAGACCAGCCTGGGCAACACAGCAAGACCTTGTCTCTACAAAAAATTAAGAAAATTAACTGGCCATGGTGACGCACACCGGTGGTCCTGGCTACTTCGGAGGCTGAGGCAGGAGGATCACTTGAGCCTGGTAGGCAGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCATCTCTCAAAAAAAAAAAAAAGGCCTTTTCTCCTTGTTGACTATTTTACAGTTTGCCAAGGCCTTTCACACATTTTCTCATTTGAGATTACAACCACTTGGCAAGAAATGTATTATTACTATACTCATTTCAAAATTGATGAAGCTAAAAGGTCAATGCCTTAACCAAGGTTGTATGTATTTACTGTGCATAATATATAGTCAAGGTCTAGGTCAACGGTAATCTTTGTTCGCCTCCTTCAAATATCAGTCTCAGCACATGCTGTGTCAGCTGCGCTTCAGAGACCTGAACTTCTTTGATTCCTGGTCCAGCTATACCATTAGGCTATAACCTCCATG
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CTTGGCGCGGTGGCTCACGTTTGTAATCCCAGCACGCTGGGAGGCCAAGGCAAGCGGATCACAAGGTCAGGAGATTGAGACCATCCGGGCCAACATGGTGAAACCCCATCTCTATTAAAAATACAAAAATTAGCTGGGTATGGTGGCGTGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAAGGAGAATCATTCGAACCCAGGAGGTGGAGATTGCAGTGAGCGGAGATCGCGCCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCGTCTAAAAAAAAAAAAAAGAAAAGAAAAAAGAAAGAGAGATTGATTATCAATTACCAGGCAAGTTAGAGAGGAATTAATATCAAGTATGGCCAATACACACTAAAACAGTAATCAGGAGTCTTCAACACACAAAAGATAAACAGTACTGCAGGACATGCTCTAAGGGTAACAGGAAAAAAAGTAAAGGCCAAAAATTATACAGGATGGAAAAACAATGAGAAGCCCAGGTATCAACCTCCTACACTCTACACCTGAGAGACTAAATCATGGTCCTGACCCCATCACCCTCACAGTCCAGTTGGGGAGAGACATCAGCAGAAAAACATCTTTAATAATTGTTATGTCAGAATAAACACATAACTACTGAGGCAGGATACGGAAATATTGAAGGGGAGAGAAAGAGGAGATCAGGTAAAACCTACTGTGGATGTTACCTCTCACCTAAGTCCTAAATATTGGTCAGGATTAACCCAAAGGAAAGAAAAATGGAATGGGAAAAGGATAGTGTCTGCTAAGTAAACAAGAAGGAGCACTAGTTTAGGAGTCAGAAGACCTGACCTTTAGACCCATAAGTTGTTTCGACAACACATCAATATGCAAAATACCGGGCAGACAGATTGAAGTAACAGTTATTTCTTTCTTTCTTTTTTTTTTTCGAGACGGAGTCTCGCCCTGTCGCCCAGGCTGGAGTGCAGTGGCAAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCCAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCGCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGTGAGCCACCGCGCCCGGCCAGTAAGTTATTTATATATCCCGGCACCTAACACATACAGGCGCTAAGCAAGACAGATAAATAATAGCAATAAAACAACTACAGTTTGCTTAGCCCTTCCTAAGTGCTAAAGTGCTAAGAATAGCAGGATAAACAATTCAAGCCCTTGTCCTCAAGCAGAGTGTACTCGAGGAGACTACAGATAAGTATACAACAACCCTGGTGAAGATACTGAGACCCAGGATCCTAATTTATTCCGTTAATAAGAGAGGAAATGGTGATTTAAACCATAATTTGATTGCCTTAAAATTATGAGATCCTCATTAAGAGAACAGGTTGGAGGGAGAAAGAAATAGGGGGTAAAGAAGTAACAATAACCCTCAAACCAAACTCCCTAATGGTCAATTAAATGGAGTCTTCCGGTGAGGCACGGAGAAGGAACTCCTCATACGGGAACAGCAGGTGCTCGATTTGGGGTGTGGTTATAACCTTTACTTCCCTTCCTACTAGTGCCTTGCTTTGCCTACTCCAACCCCGTCCAGGAACCGAGCAGCCCCCACCCGCCTCGGAGGAATCGATGGAGCACCTTTGAGTGCGCGAGTTGCCGCTCTCCGGGTACGGGGCCCGGAGCGTTAGCCTCCCGCGAGTATCGGTGAGCGGCTGCCGAACTGCCATGGGCGCCAGGCCGCTGGGGCGTGCCGCAGCCGCAAGAACCCGCAAGGGACCCCGCGCCCGCACCGGTCCCGGCCTCCTGGCTCCCTGCCGCTCCACACAGCAGCGAGAGCAGCAGCAGCAAGAGGACGAGACCCAGCTCAGGGCAACGTCCACACACCAGCCCTAGTGCGGGCGCAGCCACGTTGTCCCGCGGGCCATGTGACCCGGTTGGTCACGTGGCTGAGCCCTCCTTAAAGGGGCAGAATTTTGAGCTGACTTACGAAGTGACCAGGAGAGTTGCTCTTCACCTTTCTTCAGGTACTTCTTTGGCGCTGCTGCTTGCCTGTGCTAACGTCAAAACGCAGCAAAACACAAAACTCCACAAAACTCAAGGCCTTCCACAGACCGTGCACCCCTTTATGATTTCTTGGTTGAAAAATAACAGTCAAATTTGCTGGGCATTTGGTAAGTGCCAGAGTACTATGCTAAGCACTTCACTTTTTAAAATCTCATTTAATCCTCACAAAGACCCAGTAATGGCGCGCTTGTAGTCCCAGCTAGTCGGGAGGCCAAGGCAGGAGAATCGTTTGAACCTGGGAGGCGGAGGTTTCAGTGAGCCCAGATCCCGCCACTGCACTCCAGCCTCGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAGAGAAATACAATACGGAATCAGAATCCGTGGGGACTGGACACAGCAATCCAGGGTTTCACAAGCTCTCCAGATGATTCTAATCCACACTTAAGTTTAAGAACCACTGTTCTACAGTTCCGTAATCGAACAAAATGCAAAACCAAAACAAAAAGAAGATGAAGGAGAAACTTACAGATTAAAAAACAACATAGCAGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCCGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAATCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATGGCGCCACCGCACTCCAGCCTGGGGACAGAGCAAGACTCCATCTGAAAAAAAAAAAAAAAAAAAAAACATAGCAGCCAGCTGCAATATGTGAACCTTATCTAAATACTAATTCAAACCTACTGAGTTCAAAATTTTTGAGATAATCAGGGAAATTTAACCACTAAGTCAAATTATAATATTTGATAAAATTAAGGAATTGCTGTAAATTTTGTTTTTAGGCTTTTAGGAGTAATAATGGTATTTGTGGCTATATTTTTTAAAAGAATCCCCTCACTGAGGTACACACACACTCACTGAGGTATACACACACACACACACACACACACACATATATATATATGGATAAAAATATAGGCAGTCAAAGATTTGCTTCCCAAAAAATGGGTAATCAGGGTCTGGCTAAAGATGAAGCATGATTGGCCATGAGTTGATAACTGTCATAGCTGGTTGATGGGCATCTGGGTGTTTATTGCACTATTCTAATGTAGCATCTGTTTGAATTTTTTTAGCATAAAGAAAAGACCAGCCAGGCACCGTGTCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCAGGAGAATCGCTAGAGGCCAGGAGCTTGAGACCAGCCTGGGCAACACAGCAAGACCTTGTCTCTACAAAAAATTAAGAAAATTAACTGGCCATGGTGACGCACACCGGTGGTCCTGGCTACTTCGGAGGCTGAGGCAGGAGGATCACTTGAGCCTGGTAGGCAGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCATCTCTCAAAAAAAAAAAAAAGGCCTTTTCTCCTTGTTGACTATTTTACAGTTTGCCAAGGCCTTTCACACATTTTCTCATTTGAGATTACAACCACTTGGCAAGAAATGTATTATTACTATACTCATTTCAAAATTGATGAAGCTAAAAGGTCAATGCCTTAACCAAGGTTGTATGTATTTACTGTGCATAATATATAGTCAAGGTCTAGGTCAACGGTAATCTTTGTTCGCCTCCTTCAAATATCAGTCTCAGCACATGCTGTGTCAGCTGCGCTTCAGAGACCTGAACTTCTTTGATTCCTGGTCCAGCTATACCATTAGGCTATAACCTCCATG
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Task1_train_5877
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A mutation on Chromosome 3 affecting ITPR1 (inositol 1,4,5-trisphosphate receptor type 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; not provided
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TATATATAGTATTATAATTATAGAAACATGCGTATAAGTCTCAATGGCTGTATATATGACTTGATCATAGACCATGTATTTCCGAATGTTATAGTAAAAATATGAAAGTAATTGTTTTAGAAACATAAAGTTATGGCTTTGTCAAAGATAAAGACTTACTCTGACTCTATCTTGTTTTTTCTTAAATTTAGTTAAAACTTACTTATATAGGTACCTTAAACTGAACAGTTTTTTTTTTTTTTCCTGCTCTGAACTGGCTTTGAAACATCTCTGTATAATCAGTGACACTCGAGGAACAACATTCAGGCTTAGCCTTGTAAACATGACCCCCTCTGCACAGGGTCAGGTTTTAAAGAAGGCGTGGTGTGTGCTACATCTTTATACTTGCTGGGGATAGGCCTTGCCTTCTTCAGCACAGACTCATATGTCTTCTAGAACTGCCCAGTGGTCAATCCGCAGTCCTTATCAGTTTTGTGCAAAGCTCTATTGCTCCTTTCCATTCCAGGTGGTCATAGGTGACAAGGTGGTTCTGAACCCCGTCAATGCTGGTCAGCCCCTACATGCTAGCAGCCATCAACTGGTAGATAACCCAGGCTGCAATGAGGTAAGGACATTGAGTTATGTGTGTGGGTGTGGTTATCCTGCAGGAGCGGGTCTGGCAGGCGCCAGTGCATGCGTGTGCTGAGAGTGACTTCAGCAGTGACTTGGGGCAGGGTGCCCATTCTGCAGGTGAAGAAACAGGCCCAGGGTCAAGGCTGCCGTGTAAGGTTGTGCAACTGTGTGCAGTGGGTAGTAGATGTGGGCTGATACTCACTCTAGTGCTCAGTTTGTGAAGCCTTGCGTCACTGAGGGGTTGTTTTTTCATTGGTGAAGCCAGAGATGAACCCTTTTACTAATTTTTTTCTGGCCATAGGAGCACCTTTTTCTAATTTGTCTCCATATACAGGGTGCCTCTTTTTAACTGTTCAAAAAGGAACACTGCAGCTTATCAGCAGCCCTGCAAGAGTGATAGCTTGCTTTTGGCAATACATCTACTTCTCCTCTAAATTAGCAATTATAGGATGCAAGGATGTTACTTCCTTGTGACATAAATATTTGTCTGATGGGTAAAGACATAAACTCTTCAGTGGGATAGATGTGGGTTCACATCCTGTCTGCCTTTCCAAGCTCTGTGACGGCAGGTTGGTTACCCGGTCTCCCTGCATATCAGTTTCCTTATCTCTGAAATGGGGGCGGCGGTCGGACCTATTTTTCAGGGTGTTGCCAAGAATTAAAGGAGATTGTGCGTGTTAGCACCTAAACCTAGTGCCTGGCACAGATTTAGTGCACAAACAATGGCTGCTGTTGTTAACAATGATCATTAACATTTTCGAGTGTATACACTGGACTCATTTTTTTTCCCTTTATGGCTCATCCCATTTTATAAGTACTTATTTTCATCAGGCCTTTACTTTCTGGCTACAGAACAAGAGACTTGGAGGAAAATGAAAATATCATTCCAGAAAGGCAGGAGGCTTGGTTCCATTAGTCATGGTTGGAATGTGCATAGTGATTGGTGCAAATGAACCATTTATTTCCAAACTCTGCCAGCAGGCCAGTTGATTTTGCAGGTGCTGTGATTTTAGTGGCGTCAATCTTTAGAGTTTTTAGTCTCAAGTACAGCCTTGCTTCCTAGGCTGCGGTGAGAAGTCTGGGGGCTGGATGACACAGTTGTTGTGAGGGGTACGTGAAAAAATAACTCGAATCTGTGTTTCAGGTCAATTCCGTCAACTGCAATACAAGCTGGAAAATAGTCCTTTTCATGAAATGGAGTGATAACAAAGACGACATATTAAAGGGGGTGAGTTTGATGCTTTATGGGCTGAGCATTACTTGGCTCTTCTTGGGGGCAGCAGTCTAATTCTCTTTTTAAATTCTTTTTTCCTTAATTCTTTCTTGTGTTGACTGTCAGGGTGACGTGGTGAGGCTGTTTCATGCTGAGCAGGAGAAGTTTCTCACCTGTGACGAACACAGGAAGAAGCAGCACGTCTTCCTGAGAACCACGGGCCGGCAGTCGGCCACATCTGCCACCAGTTCAAAAGCCCTGTGGGAGGTGGAGGTAAGGGTAGGGTGGAGAAAGGGCTCCTGGGTTTAGAGGATATCAGCCTGTATATAGGCTCTCTCTCTCTCTATCCTACAAATATTCATACATACATATACCTATATGTGTCTATACACCCACATACACACACCTACACACACACACAGAATACATGTGTGTGTATATATATAAGTCACAAACAAGTACTTATACCCACCTTATTCCAAAAATGGGTTGGGGATGGCATAGTGAAGTAAGTGCATCATGGCATATCATGGTGCTGCATATTTGTGCAGAAGGAAAGAATAAGTACTTTGGAAACAAATTCAAAAACGAAATTAGAAATAGCTTTCTCTGAGCCATCTAATCCCTTCTATTGTTTTCTTTCCCTTGCTCATTTATCTATCACAACAATATTTAACCAGGTGTCTACCTGACACAATACATAGGTGATGCCCACATTGGTGATGGGGCAGAAATGAGAAGATATACACCCAGATAACTGGAACACACAAGGGGATGGTGAAGGTGGTAAGAGGCATATTCCACATGCTCTGGAGGTTTCAGTGAGAGAGGGTGAATGTCTGGGTGGGTGAAGAATTAAGGAAGACTTCCTGAAGGAGATAGCATCTGATCTGGTACCTGCAGGATGATTTGTATTTCAGAAGGAAGAGATGAATGGAGTAGGTTACTTCATGTAAGAGAATGGTGCAGAATGTGGAAACGTGAAGCAGCGTGGGATAAAACTCAGTAACTTGTTTGGTGAAGGGCACGGGATAGGCATGGGAAATTAAACAGAACTGTTTTTGGAGACCAGAGGCTGAAGGGCCATATATCCAGGCTATAGGGAGTTGGGATTTAATTTATGGGCAGGGGAGAAATTTGGAAAGTTGTTTGAGGAAGGGAATAACATAATCAGTGTGCAACTTAAAGAAGCTAGAAGATTCTGCCCACAGCATGTAATTTGTTGTAAGGAGAGTCTAGAATTGCAGGACAAAGAAGGAAATGTTCTGAATGCTTGGTGAAAGAGGCAATGAGAGCTTCAACTAACATGGAGCTCTTTCTTCACCTCAAGCCTTCCTTTCTGTGTAATTGCAGCATGAATTAGAATTCTAATTCAAATTTCTAATTTGAATAGATAAATTTTTCTGTCTCTGCTTGCGTTCTCTTTTCCTCCTCCCTAGCTTCAATTGTTTCATGTTGCTACTGAGGTCTAGCCTATGTATAGTATAGTAAAGTGCCCAAGTCAAGAGTATACAACTCAATGAATTTTTACGTATACGTTCAGCCATGTAACCAGCACCTAGAACAAGAAATAGAATGATAGCAGCACCCAGAAGGTCCCTTGAGCCTCTCTTTCTAGGCAATGTTTCCTTTTTCCTCCTGGAGACTTCTATTGCCTGTTCTTGAACTTTGTATAAATGGAGTCATACAGTATACAGTCTTTATGTTCTGTTTTTTTTTCACTCAGTATAATTATTTTGAGATTCGTATATATTCTTGCATGTATCAGATTAATTTGTTCCTTTATATTACTGCATAATACTCCATCATATGGATACACCACAATTTGCTAATCTATTCACCTGCTGATGGACATTTGAGTTGTTCCCAACTTCTGGCTATTTCAAATAAAGCTTCTAGGGATATTTGTACACAAGTTTCTGTATGGATGTAACTTTTCTTCATTTCTCTGAATTAAATACCTAGCAGTGGATTGGCTGGATCATATGGTAGCCATGGTATGGTATGGTATGGCATGGTATGGTATGGCATGGTATATATTCAACTTTATAAGAAATTGCTAAACTGTTCTCCAAAGTGATTGGACCATTTTACATTCCCACAAGTAATGTGTGAGAGTTCTAGTTCTTCCATATCCTTACCAACACTTGGTATAGTCAGTCTTTTCAATGTTACTCGTTCTAGTAGGTACATAGTGAAATTTCAATGTGGGTTGGATTTGCATCCCCTGTTTGATTTAGTAGGTGTGTAGTGAAATTTCATTGTGGGTTT
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TATATATAGTATTATAATTATAGAAACATGCGTATAAGTCTCAATGGCTGTATATATGACTTGATCATAGACCATGTATTTCCGAATGTTATAGTAAAAATATGAAAGTAATTGTTTTAGAAACATAAAGTTATGGCTTTGTCAAAGATAAAGACTTACTCTGACTCTATCTTGTTTTTTCTTAAATTTAGTTAAAACTTACTTATATAGGTACCTTAAACTGAACAGTTTTTTTTTTTTTTCCTGCTCTGAACTGGCTTTGAAACATCTCTGTATAATCAGTGACACTCGAGGAACAACATTCAGGCTTAGCCTTGTAAACATGACCCCCTCTGCACAGGGTCAGGTTTTAAAGAAGGCGTGGTGTGTGCTACATCTTTATACTTGCTGGGGATAGGCCTTGCCTTCTTCAGCACAGACTCATATGTCTTCTAGAACTGCCCAGTGGTCAATCCGCAGTCCTTATCAGTTTTGTGCAAAGCTCTATTGCTCCTTTCCATTCCAGGTGGTCATAGGTGACAAGGTGGTTCTGAACCCCGTCAATGCTGGTCAGCCCCTACATGCTAGCAGCCATCAACTGGTAGATAACCCAGGCTGCAATGAGGTAAGGACATTGAGTTATGTGTGTGGGTGTGGTTATCCTGCAGGAGCGGGTCTGGCAGGCGCCAGTGCATGCGTGTGCTGAGAGTGACTTCAGCAGTGACTTGGGGCAGGGTGCCCATTCTGCAGGTGAAGAAACAGGCCCAGGGTCAAGGCTGCCGTGTAAGGTTGTGCAACTGTGTGCAGTGGGTAGTAGATGTGGGCTGATACTCACTCTAGTGCTCAGTTTGTGAAGCCTTGCGTCACTGAGGGGTTGTTTTTTCATTGGTGAAGCCAGAGATGAACCCTTTTACTAATTTTTTTCTGGCCATAGGAGCACCTTTTTCTAATTTGTCTCCATATACAGGGTGCCTCTTTTTAACTGTTCAAAAAGGAACACTGCAGCTTATCAGCAGCCCTGCAAGAGTGATAGCTTGCTTTTGGCAATACATCTACTTCTCCTCTAAATTAGCAATTATAGGATGCAAGGATGTTACTTCCTTGTGACATAAATATTTGTCTGATGGGTAAAGACATAAACTCTTCAGTGGGATAGATGTGGGTTCACATCCTGTCTGCCTTTCCAAGCTCTGTGACGGCAGGTTGGTTACCCGGTCTCCCTGCATATCAGTTTCCTTATCTCTGAAATGGGGGCGGCGGTCGGACCTATTTTTCAGGGTGTTGCCAAGAATTAAAGGAGATTGTGCGTGTTAGCACCTAAACCTAGTGCCTGGCACAGATTTAGTGCACAAACAATGGCTGCTGTTGTTAACAATGATCATTAACATTTTCGAGTGTATACACTGGACTCATTTTTTTTCCCTTTATGGCTCATCCCATTTTATAAGTACTTATTTTCATCAGGCCTTTACTTTCTGGCTACAGAACAAGAGACTTGGAGGAAAATGAAAATATCATTCCAGAAAGGCAGGAGGCTTGGTTCCATTAGTCATGGTTGGAATGTGCATAGTGATTGGTGCAAATGAACCATTTATTTCCAAACTCTGCCAGCAGGCCAGTTGATTTTGCAGGTGCTGTGATTTTAGTGGCGTCAATCTTTAGAGTTTTTAGTCTCAAGTACAGCCTTGCTTCCTAGGCTGCGGTGAGAAGTCTGGGGGCTGGATGACACAGTTGTTGTGAGGGGTACGTGAAAAAATAACTCGAATCTGTGTTTCAGGTCAATTCCGTCAACTGCAATACAAGCTGGAAAATAGTCCTTTTCATGAAATGGAGTGATAACAAAGACGACATATTAAAGGGGGTGAGTTTGATGCTTTATGGGCTGAGCATTACTTGGCTCTTCTTGGGGGCAGCAGTCTAATTCTCTTTTTAAATTCTTTTTTCCTTAATTCTTTCTTGTGTTGACTGTCAGGGTGACGTGGTGAGGCTGTTTCATGCTGAGCAGGAGAAGTTTCTCACCTGTGACGAACACAGGAAGAAGCAGCACGTCTTCCTGAGAACCACGGGCCTGCAGTCGGCCACATCTGCCACCAGTTCAAAAGCCCTGTGGGAGGTGGAGGTAAGGGTAGGGTGGAGAAAGGGCTCCTGGGTTTAGAGGATATCAGCCTGTATATAGGCTCTCTCTCTCTCTATCCTACAAATATTCATACATACATATACCTATATGTGTCTATACACCCACATACACACACCTACACACACACACAGAATACATGTGTGTGTATATATATAAGTCACAAACAAGTACTTATACCCACCTTATTCCAAAAATGGGTTGGGGATGGCATAGTGAAGTAAGTGCATCATGGCATATCATGGTGCTGCATATTTGTGCAGAAGGAAAGAATAAGTACTTTGGAAACAAATTCAAAAACGAAATTAGAAATAGCTTTCTCTGAGCCATCTAATCCCTTCTATTGTTTTCTTTCCCTTGCTCATTTATCTATCACAACAATATTTAACCAGGTGTCTACCTGACACAATACATAGGTGATGCCCACATTGGTGATGGGGCAGAAATGAGAAGATATACACCCAGATAACTGGAACACACAAGGGGATGGTGAAGGTGGTAAGAGGCATATTCCACATGCTCTGGAGGTTTCAGTGAGAGAGGGTGAATGTCTGGGTGGGTGAAGAATTAAGGAAGACTTCCTGAAGGAGATAGCATCTGATCTGGTACCTGCAGGATGATTTGTATTTCAGAAGGAAGAGATGAATGGAGTAGGTTACTTCATGTAAGAGAATGGTGCAGAATGTGGAAACGTGAAGCAGCGTGGGATAAAACTCAGTAACTTGTTTGGTGAAGGGCACGGGATAGGCATGGGAAATTAAACAGAACTGTTTTTGGAGACCAGAGGCTGAAGGGCCATATATCCAGGCTATAGGGAGTTGGGATTTAATTTATGGGCAGGGGAGAAATTTGGAAAGTTGTTTGAGGAAGGGAATAACATAATCAGTGTGCAACTTAAAGAAGCTAGAAGATTCTGCCCACAGCATGTAATTTGTTGTAAGGAGAGTCTAGAATTGCAGGACAAAGAAGGAAATGTTCTGAATGCTTGGTGAAAGAGGCAATGAGAGCTTCAACTAACATGGAGCTCTTTCTTCACCTCAAGCCTTCCTTTCTGTGTAATTGCAGCATGAATTAGAATTCTAATTCAAATTTCTAATTTGAATAGATAAATTTTTCTGTCTCTGCTTGCGTTCTCTTTTCCTCCTCCCTAGCTTCAATTGTTTCATGTTGCTACTGAGGTCTAGCCTATGTATAGTATAGTAAAGTGCCCAAGTCAAGAGTATACAACTCAATGAATTTTTACGTATACGTTCAGCCATGTAACCAGCACCTAGAACAAGAAATAGAATGATAGCAGCACCCAGAAGGTCCCTTGAGCCTCTCTTTCTAGGCAATGTTTCCTTTTTCCTCCTGGAGACTTCTATTGCCTGTTCTTGAACTTTGTATAAATGGAGTCATACAGTATACAGTCTTTATGTTCTGTTTTTTTTTCACTCAGTATAATTATTTTGAGATTCGTATATATTCTTGCATGTATCAGATTAATTTGTTCCTTTATATTACTGCATAATACTCCATCATATGGATACACCACAATTTGCTAATCTATTCACCTGCTGATGGACATTTGAGTTGTTCCCAACTTCTGGCTATTTCAAATAAAGCTTCTAGGGATATTTGTACACAAGTTTCTGTATGGATGTAACTTTTCTTCATTTCTCTGAATTAAATACCTAGCAGTGGATTGGCTGGATCATATGGTAGCCATGGTATGGTATGGTATGGCATGGTATGGTATGGCATGGTATATATTCAACTTTATAAGAAATTGCTAAACTGTTCTCCAAAGTGATTGGACCATTTTACATTCCCACAAGTAATGTGTGAGAGTTCTAGTTCTTCCATATCCTTACCAACACTTGGTATAGTCAGTCTTTTCAATGTTACTCGTTCTAGTAGGTACATAGTGAAATTTCAATGTGGGTTGGATTTGCATCCCCTGTTTGATTTAGTAGGTGTGTAGTGAAATTTCATTGTGGGTTT
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Task1_train_5878
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Assess the clinical impact of this variant on gene ITPR1 (inositol 1,4,5-trisphosphate receptor type 1), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Spinocerebellar ataxia type 29
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GCTTTATGAGAAATCATAAAGCATGAGTGGTAGCTCATGCCTGTAGTCCCAGCACTTTGGGAAGCCGAGGTGGGAGGATCCCCTTGAGCCCAGGAAATGGAGGTTGCAGTGAGCTGATCGCATCACTGCCCTCCAGCCTGGGTGACAGAGAGAGAGCCTGTCTCAAAAGAGAAAGAAAAAGAGAAATCAATGGGATCATTGAGGGATATTGGTGATTCCCACCTCAAAGGCTTGATGAATTGATTTTTCAATAGACTATTTTCTAGAGCAGTTTTTAGGTTCTCAGCAAGATTGTGCAAAAAGTCCAGAGAGTTCCCATATCTCCTCTTGTCCTCACACACTTGGCCTCCCCCACTACCGACATCCTACATCACAGTGAGACATTTGTGACAATTTGGGGAATCAACATTGATACATCATTATCACCTGAAGTCCATAGTTTACATTAGGGTTCTCTCTTGGCATTTTATTTTCTATGGGTTTTGATAAATGTATGATGCCATTTAGTCACCATTAAAATATCTTACAGAATAGTTTCACTGCCCTGAAATCATCTGTGCTCCTCCTATTTGTCTGTCCTTCCTGCTAACCCTTCACAGCCATGAACGTTCTTACTGCATGCATTGTTTTCCCTTTACAGAATGTGACATGGTTGGAATCAAACAGTATGTACCCTTTTCAGAGGGGCAAATTTCACTTAGTGATATGCATCCAAGGTTCTTCAGTGTCTGTCCATGGCTTGATAGTTCAGTTCAATTGATTTTTAGCGTACTTGTTGGATATCAATCATGTGAGAGTTTACCTGTTAGGAACCTCAAGAAACATTCAGCTGACAACTTTATTTTCCTCAAAAATAATGTAAAGTTCAATGTGACCTTAAGGTTATTTCATACATTTGGGAGATTTGGCATATTCTATAAACTCAGAAGGCCCATATAGGCTCTTATAGAGTGCCCTATAAGTCACCACAGAATCTTTCCGTAAAGAATGAGTAGTGGTTGACAGGAAATACATAGATGATATTGTTGGATGTAAATGTAAATAAACTGGTATAAAGACAAATTAGAGGCAGTAAAGTGACAAATCCAGAGTAGATTAAATGCACAGAGATGCATACCATGTCCTTCTGTAACCCAACTGGAGATTAGCCCACAAACTTGCCACCGGAATTCCTGGCCACCAAAGCTAAAAGAGAAACATATTAGTTACAAGTCCCACTGGTCCCCATGGAACAAGGGATTTGAGATTATTTTTTCATGTTGGTCTATGATAGACAGAATTTATTAACAATCCATCTTGTTTCAACAAGAATTTCCAGTTCAAGAGTAAATGTCCAGCTGTTGTTTCATGTGATGATTCTCAAATTAGACCTCTGGCTTAATGCCCATGCTCATTTGTACAATAGTAATTCCTGAGAGGCAAAAAATAACTGACTCACTGGCAGGAGCCTTCATTGATTACTTGTGCTGGGCACTAGTGCGACTTAAAATTATCATCCATTTTCATCCTTACTACACCTCTGTGATATAGGCATTATTCTTTCCATTTTGCTGGTAAGGAAATGCGGGTTTACTTTGACTGTAATCTGTACTGCTAGGGAGTAATAAAGGCTTGTGTTTCCACCTAGAATCTGCTGATTCCATTGTCTGTGTTCTTAAACGCTTTGCTCTAAGCACTGTGCTGTTAGGTGTATGAGGACCAGTGGAGTCCAGTAGACTTAATTCAGCGCGTCTCCCATCTCAGTTGATGGGCTGAATGCAGTGTTCAGGTTATGGATGTGTTGGGATAGAGAAATTTTCTAATGTAATCCAGCCACCCTTGAGCTTGCATTACTTCCAAACAGAGGGTTAGCTTTGAAGCCCTAAGTGATTGCCATTTTTGCTTTTCATTTTCACAAACAGATCTTCAAGTTGTTACAAGCCCCATTCACAGACTGCGGTGATGGCCCAATGCTTCGGCTGGAAGAGCTCGGGGACCAGCGGCACGCTCCTTTCAGACACATCTGCCGGCTCTGCTACAGGGTGCTGAGACACTCGCAGCAAGACTACAGGAAGAACCAGGTTTGGATTAAGCATTGGTGGGATGTGGTTGTCAGTTTCCTCCCTGAAGTTTGTGAACTTTCCTCCTGAGTTTTTAGTGTCACATGTCTATTTATAGAATGGATGCAGAATAGTTCAGTGTTGAGCTTGCTCTTGGGAAGGAAACACAAGCCCAGGAAGAATATTATTACCTAATCGTTAAGAAACGTACTGGAGAATTCTCTTCTGCAGACATCTTTCTATGAGATTTCTGGTTTTGGAGTTGGTTTTACATTTATAGAATTTTTTATGACGTATTCCCTTAGGGCTTAGGGGTGAAATGATGCCATGTGTTTATATTAAAGATATAGTGGAGTCTTTTCTTCCTGCACCTTTAAAATTCTCCGTCTCTTTCTAGAAACATGATCTTTATTTTGTTTCTGATTCATGTTTTATGACATTCTAAGTCATTGTCTATAGAGATATCTTATACATAGTTATATTTTACATATTATACATAGTATATGTGTATTTATATACACACACAATGTATAGTCTCCTATGAAATAAATGTCCTAGGAGCTCCAAACAACCTTCAGATTCTAAGAAAACCTGAGAACTATATTGCTACATCATTGGTTCTTAACTGGGGGTAATTTTGTCCCCCAAAGAATATTTGGCAACATCTGGAGACCCTTTTGAGTTTTATAACTTCATGGTGCTGCTGGCATCTGGTGAGGGGAGGCTAGGGATGCTCTCAAACACCCAGCAGTGCCAAGGACATCCCCACACAACCAAGAATTATCCTGCCTAAAATGTCAGTAGTGCTGAGGTTTAGAAAATTTGTGCCACATGGAGTACCGTAGGCATGCAAAATGATGCTTATCATAACCTTGACTCTTACCACTTTATGTGAACTATCCCTGCCTTTTGGGGCAAAAGGCTTTTGTTTTTAAGGTTTTGACTGCCACTATACTGGACTTTTAGAGTTTTTTCTTTGTAATTAAAGGTTTTTGTCATGTCATCATAAAGATAGTGTTGATCTTGAATAGTGCTTTTTTTGAAGTGTATCAAGCTGTGATTGCTTTAAATCCACCTTCAGTGCGTTGATACTGTAATCCAATAGCCAGAGAGATTTTATTCTGTTCCTCTCTCCCATCTTCAGATGAGGATACATCTGGGTCTGTGGGGTGTGTCAAGACACTTTGCTTGTACATGAGGAAACAAACTAGTTACTCTTGGAATTGCTGGATTAGACATCTTTGCTTAGTTGTTTTCGGATCCTTTACCAGTTGGCAGATGATAAGTTCCTACACAATGCCTCCTTATAGAATACAGGCTGAAAACCATGGCCTGTTTTCATTATGTTAATCCTAAATAGTTAACCGGGATTTAGGAATTAATGGGAAAAAAATTAAAGCAAGTTTCAAGGGCCACTTGAATTTTGAGCAAGCAGTCTATCTTGGCCAGGGAAGCATCTTTGAACAGAAACAAACAGGTATTTGTAAGAGATTTCCTTGAGTTCACAAATATTTCTATGGAATGTGATAGCTGATCCCAAAAGAGAGAAACCAGAGATGTATTCATGAGTTCCATGCATATGATGGATTTTCTTAGGTATTTATTCCTGACCTTCTTATGCTACTCATTGACTTTAAAAAAGTATTTTTACCACAAATAAAGGAAATGAAACAGGGTAACATTGTTCCAGATCTCCAGGTAGGCTTTATCTGTGTTTATTTAGCAGCACAGATCACTGGGGGCACAGTTAAGTCCTCTTGAATTAGGAATACGTTTAGAGCTGAAAACCAGCTTTGGACCTTTTTGAAAAATAAATCACTAGATTAAAATTTATACTGTGCACTTAATAAAATATCCACGTGTAAATACAGGCTATTTTGCTTAATTACATTTGTGTGGCAGGCTTAGAAAAGTAAAGGATGTGAAGGAGTTTGCAGCTGTTGCCCTAGGATAGAAAGTTGTAGGAAGACCCTCCCTTATACTGTAATGTCTCTTAGGGGCAGTAGTTCTCATCAGGAAACATTGCTGCTTTCTTTAGTCTACGCTTAACCATATTG
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GCTTTATGAGAAATCATAAAGCATGAGTGGTAGCTCATGCCTGTAGTCCCAGCACTTTGGGAAGCCGAGGTGGGAGGATCCCCTTGAGCCCAGGAAATGGAGGTTGCAGTGAGCTGATCGCATCACTGCCCTCCAGCCTGGGTGACAGAGAGAGAGCCTGTCTCAAAAGAGAAAGAAAAAGAGAAATCAATGGGATCATTGAGGGATATTGGTGATTCCCACCTCAAAGGCTTGATGAATTGATTTTTCAATAGACTATTTTCTAGAGCAGTTTTTAGGTTCTCAGCAAGATTGTGCAAAAAGTCCAGAGAGTTCCCATATCTCCTCTTGTCCTCACACACTTGGCCTCCCCCACTACCGACATCCTACATCACAGTGAGACATTTGTGACAATTTGGGGAATCAACATTGATACATCATTATCACCTGAAGTCCATAGTTTACATTAGGGTTCTCTCTTGGCATTTTATTTTCTATGGGTTTTGATAAATGTATGATGCCATTTAGTCACCATTAAAATATCTTACAGAATAGTTTCACTGCCCTGAAATCATCTGTGCTCCTCCTATTTGTCTGTCCTTCCTGCTAACCCTTCACAGCCATGAACGTTCTTACTGCATGCATTGTTTTCCCTTTACAGAATGTGACATGGTTGGAATCAAACAGTATGTACCCTTTTCAGAGGGGCAAATTTCACTTAGTGATATGCATCCAAGGTTCTTCAGTGTCTGTCCATGGCTTGATAGTTCAGTTCAATTGATTTTTAGCGTACTTGTTGGATATCAATCATGTGAGAGTTTACCTGTTAGGAACCTCAAGAAACATTCAGCTGACAACTTTATTTTCCTCAAAAATAATGTAAAGTTCAATGTGACCTTAAGGTTATTTCATACATTTGGGAGATTTGGCATATTCTATAAACTCAGAAGGCCCATATAGGCTCTTATAGAGTGCCCTATAAGTCACCACAGAATCTTTCCGTAAAGAATGAGTAGTGGTTGACAGGAAATACATAGATGATATTGTTGGATGTAAATGTAAATAAACTGGTATAAAGACAAATTAGAGGCAGTAAAGTGACAAATCCAGAGTAGATTAAATGCACAGAGATGCATACCATGTCCTTCTGTAACCCAACTGGAGATTAGCCCACAAACTTGCCACCGGAATTCCTGGCCACCAAAGCTAAAAGAGAAACATATTAGTTACAAGTCCCACTGGTCCCCATGGAACAAGGGATTTGAGATTATTTTTTCATGTTGGTCTATGATAGACAGAATTTATTAACAATCCATCTTGTTTCAACAAGAATTTCCAGTTCAAGAGTAAATGTCCAGCTGTTGTTTCATGTGATGATTCTCAAATTAGACCTCTGGCTTAATGCCCATGCTCATTTGTACAATAGTAATTCCTGAGAGGCAAAAAATAACTGACTCACTGGCAGGAGCCTTCATTGATTACTTGTGCTGGGCACTAGTGCGACTTAAAATTATCATCCATTTTCATCCTTACTACACCTCTGTGATATAGGCATTATTCTTTCCATTTTGCTGGTAAGGAAATGCGGGTTTACTTTGACTGTAATCTGTACTGCTAGGGAGTAATAAAGGCTTGTGTTTCCACCTAGAATCTGCTGATTCCATTGTCTGTGTTCTTAAACGCTTTGCTCTAAGCACTGTGCTGTTAGGTGTATGAGGACCAGTGGAGTCCAGTAGACTTAATTCAGCGCGTCTCCCATCTCAGTTGATGGGCTGAATGCAGTGTTCAGGTTATGGATGTGTTGGGATAGAGAAATTTTCTAATGTAATCCAGCCACCCTTGAGCTTGCATTACTTCCAAACAGAGGGTTAGCTTTGAAGCCCTAAGTGATTGCCATTTTTGCTTTTCATTTTCACAAACAGATCTTCAAGTTGTTACAAGCCCCATTCACAGACTGCGGTGATGGCCCAATGCTTCGGCTGGAAGAGCTCGGGGACCAGCGGCACGCTCCTTTCAGACACATCTGCCGGCTCTGCTACAGGGTGCTGAGACACTCGCAGCAAGACTACGGGAAGAACCAGGTTTGGATTAAGCATTGGTGGGATGTGGTTGTCAGTTTCCTCCCTGAAGTTTGTGAACTTTCCTCCTGAGTTTTTAGTGTCACATGTCTATTTATAGAATGGATGCAGAATAGTTCAGTGTTGAGCTTGCTCTTGGGAAGGAAACACAAGCCCAGGAAGAATATTATTACCTAATCGTTAAGAAACGTACTGGAGAATTCTCTTCTGCAGACATCTTTCTATGAGATTTCTGGTTTTGGAGTTGGTTTTACATTTATAGAATTTTTTATGACGTATTCCCTTAGGGCTTAGGGGTGAAATGATGCCATGTGTTTATATTAAAGATATAGTGGAGTCTTTTCTTCCTGCACCTTTAAAATTCTCCGTCTCTTTCTAGAAACATGATCTTTATTTTGTTTCTGATTCATGTTTTATGACATTCTAAGTCATTGTCTATAGAGATATCTTATACATAGTTATATTTTACATATTATACATAGTATATGTGTATTTATATACACACACAATGTATAGTCTCCTATGAAATAAATGTCCTAGGAGCTCCAAACAACCTTCAGATTCTAAGAAAACCTGAGAACTATATTGCTACATCATTGGTTCTTAACTGGGGGTAATTTTGTCCCCCAAAGAATATTTGGCAACATCTGGAGACCCTTTTGAGTTTTATAACTTCATGGTGCTGCTGGCATCTGGTGAGGGGAGGCTAGGGATGCTCTCAAACACCCAGCAGTGCCAAGGACATCCCCACACAACCAAGAATTATCCTGCCTAAAATGTCAGTAGTGCTGAGGTTTAGAAAATTTGTGCCACATGGAGTACCGTAGGCATGCAAAATGATGCTTATCATAACCTTGACTCTTACCACTTTATGTGAACTATCCCTGCCTTTTGGGGCAAAAGGCTTTTGTTTTTAAGGTTTTGACTGCCACTATACTGGACTTTTAGAGTTTTTTCTTTGTAATTAAAGGTTTTTGTCATGTCATCATAAAGATAGTGTTGATCTTGAATAGTGCTTTTTTTGAAGTGTATCAAGCTGTGATTGCTTTAAATCCACCTTCAGTGCGTTGATACTGTAATCCAATAGCCAGAGAGATTTTATTCTGTTCCTCTCTCCCATCTTCAGATGAGGATACATCTGGGTCTGTGGGGTGTGTCAAGACACTTTGCTTGTACATGAGGAAACAAACTAGTTACTCTTGGAATTGCTGGATTAGACATCTTTGCTTAGTTGTTTTCGGATCCTTTACCAGTTGGCAGATGATAAGTTCCTACACAATGCCTCCTTATAGAATACAGGCTGAAAACCATGGCCTGTTTTCATTATGTTAATCCTAAATAGTTAACCGGGATTTAGGAATTAATGGGAAAAAAATTAAAGCAAGTTTCAAGGGCCACTTGAATTTTGAGCAAGCAGTCTATCTTGGCCAGGGAAGCATCTTTGAACAGAAACAAACAGGTATTTGTAAGAGATTTCCTTGAGTTCACAAATATTTCTATGGAATGTGATAGCTGATCCCAAAAGAGAGAAACCAGAGATGTATTCATGAGTTCCATGCATATGATGGATTTTCTTAGGTATTTATTCCTGACCTTCTTATGCTACTCATTGACTTTAAAAAAGTATTTTTACCACAAATAAAGGAAATGAAACAGGGTAACATTGTTCCAGATCTCCAGGTAGGCTTTATCTGTGTTTATTTAGCAGCACAGATCACTGGGGGCACAGTTAAGTCCTCTTGAATTAGGAATACGTTTAGAGCTGAAAACCAGCTTTGGACCTTTTTGAAAAATAAATCACTAGATTAAAATTTATACTGTGCACTTAATAAAATATCCACGTGTAAATACAGGCTATTTTGCTTAATTACATTTGTGTGGCAGGCTTAGAAAAGTAAAGGATGTGAAGGAGTTTGCAGCTGTTGCCCTAGGATAGAAAGTTGTAGGAAGACCCTCCCTTATACTGTAATGTCTCTTAGGGGCAGTAGTTCTCATCAGGAAACATTGCTGCTTTCTTTAGTCTACGCTTAACCATATTG
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Task1_train_5879
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This alteration in ITPR1 (inositol 1,4,5-trisphosphate receptor type 1) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; not provided
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TTATGAGAAATCATAAAGCATGAGTGGTAGCTCATGCCTGTAGTCCCAGCACTTTGGGAAGCCGAGGTGGGAGGATCCCCTTGAGCCCAGGAAATGGAGGTTGCAGTGAGCTGATCGCATCACTGCCCTCCAGCCTGGGTGACAGAGAGAGAGCCTGTCTCAAAAGAGAAAGAAAAAGAGAAATCAATGGGATCATTGAGGGATATTGGTGATTCCCACCTCAAAGGCTTGATGAATTGATTTTTCAATAGACTATTTTCTAGAGCAGTTTTTAGGTTCTCAGCAAGATTGTGCAAAAAGTCCAGAGAGTTCCCATATCTCCTCTTGTCCTCACACACTTGGCCTCCCCCACTACCGACATCCTACATCACAGTGAGACATTTGTGACAATTTGGGGAATCAACATTGATACATCATTATCACCTGAAGTCCATAGTTTACATTAGGGTTCTCTCTTGGCATTTTATTTTCTATGGGTTTTGATAAATGTATGATGCCATTTAGTCACCATTAAAATATCTTACAGAATAGTTTCACTGCCCTGAAATCATCTGTGCTCCTCCTATTTGTCTGTCCTTCCTGCTAACCCTTCACAGCCATGAACGTTCTTACTGCATGCATTGTTTTCCCTTTACAGAATGTGACATGGTTGGAATCAAACAGTATGTACCCTTTTCAGAGGGGCAAATTTCACTTAGTGATATGCATCCAAGGTTCTTCAGTGTCTGTCCATGGCTTGATAGTTCAGTTCAATTGATTTTTAGCGTACTTGTTGGATATCAATCATGTGAGAGTTTACCTGTTAGGAACCTCAAGAAACATTCAGCTGACAACTTTATTTTCCTCAAAAATAATGTAAAGTTCAATGTGACCTTAAGGTTATTTCATACATTTGGGAGATTTGGCATATTCTATAAACTCAGAAGGCCCATATAGGCTCTTATAGAGTGCCCTATAAGTCACCACAGAATCTTTCCGTAAAGAATGAGTAGTGGTTGACAGGAAATACATAGATGATATTGTTGGATGTAAATGTAAATAAACTGGTATAAAGACAAATTAGAGGCAGTAAAGTGACAAATCCAGAGTAGATTAAATGCACAGAGATGCATACCATGTCCTTCTGTAACCCAACTGGAGATTAGCCCACAAACTTGCCACCGGAATTCCTGGCCACCAAAGCTAAAAGAGAAACATATTAGTTACAAGTCCCACTGGTCCCCATGGAACAAGGGATTTGAGATTATTTTTTCATGTTGGTCTATGATAGACAGAATTTATTAACAATCCATCTTGTTTCAACAAGAATTTCCAGTTCAAGAGTAAATGTCCAGCTGTTGTTTCATGTGATGATTCTCAAATTAGACCTCTGGCTTAATGCCCATGCTCATTTGTACAATAGTAATTCCTGAGAGGCAAAAAATAACTGACTCACTGGCAGGAGCCTTCATTGATTACTTGTGCTGGGCACTAGTGCGACTTAAAATTATCATCCATTTTCATCCTTACTACACCTCTGTGATATAGGCATTATTCTTTCCATTTTGCTGGTAAGGAAATGCGGGTTTACTTTGACTGTAATCTGTACTGCTAGGGAGTAATAAAGGCTTGTGTTTCCACCTAGAATCTGCTGATTCCATTGTCTGTGTTCTTAAACGCTTTGCTCTAAGCACTGTGCTGTTAGGTGTATGAGGACCAGTGGAGTCCAGTAGACTTAATTCAGCGCGTCTCCCATCTCAGTTGATGGGCTGAATGCAGTGTTCAGGTTATGGATGTGTTGGGATAGAGAAATTTTCTAATGTAATCCAGCCACCCTTGAGCTTGCATTACTTCCAAACAGAGGGTTAGCTTTGAAGCCCTAAGTGATTGCCATTTTTGCTTTTCATTTTCACAAACAGATCTTCAAGTTGTTACAAGCCCCATTCACAGACTGCGGTGATGGCCCAATGCTTCGGCTGGAAGAGCTCGGGGACCAGCGGCACGCTCCTTTCAGACACATCTGCCGGCTCTGCTACAGGGTGCTGAGACACTCGCAGCAAGACTACAGGAAGAACCAGGTTTGGATTAAGCATTGGTGGGATGTGGTTGTCAGTTTCCTCCCTGAAGTTTGTGAACTTTCCTCCTGAGTTTTTAGTGTCACATGTCTATTTATAGAATGGATGCAGAATAGTTCAGTGTTGAGCTTGCTCTTGGGAAGGAAACACAAGCCCAGGAAGAATATTATTACCTAATCGTTAAGAAACGTACTGGAGAATTCTCTTCTGCAGACATCTTTCTATGAGATTTCTGGTTTTGGAGTTGGTTTTACATTTATAGAATTTTTTATGACGTATTCCCTTAGGGCTTAGGGGTGAAATGATGCCATGTGTTTATATTAAAGATATAGTGGAGTCTTTTCTTCCTGCACCTTTAAAATTCTCCGTCTCTTTCTAGAAACATGATCTTTATTTTGTTTCTGATTCATGTTTTATGACATTCTAAGTCATTGTCTATAGAGATATCTTATACATAGTTATATTTTACATATTATACATAGTATATGTGTATTTATATACACACACAATGTATAGTCTCCTATGAAATAAATGTCCTAGGAGCTCCAAACAACCTTCAGATTCTAAGAAAACCTGAGAACTATATTGCTACATCATTGGTTCTTAACTGGGGGTAATTTTGTCCCCCAAAGAATATTTGGCAACATCTGGAGACCCTTTTGAGTTTTATAACTTCATGGTGCTGCTGGCATCTGGTGAGGGGAGGCTAGGGATGCTCTCAAACACCCAGCAGTGCCAAGGACATCCCCACACAACCAAGAATTATCCTGCCTAAAATGTCAGTAGTGCTGAGGTTTAGAAAATTTGTGCCACATGGAGTACCGTAGGCATGCAAAATGATGCTTATCATAACCTTGACTCTTACCACTTTATGTGAACTATCCCTGCCTTTTGGGGCAAAAGGCTTTTGTTTTTAAGGTTTTGACTGCCACTATACTGGACTTTTAGAGTTTTTTCTTTGTAATTAAAGGTTTTTGTCATGTCATCATAAAGATAGTGTTGATCTTGAATAGTGCTTTTTTTGAAGTGTATCAAGCTGTGATTGCTTTAAATCCACCTTCAGTGCGTTGATACTGTAATCCAATAGCCAGAGAGATTTTATTCTGTTCCTCTCTCCCATCTTCAGATGAGGATACATCTGGGTCTGTGGGGTGTGTCAAGACACTTTGCTTGTACATGAGGAAACAAACTAGTTACTCTTGGAATTGCTGGATTAGACATCTTTGCTTAGTTGTTTTCGGATCCTTTACCAGTTGGCAGATGATAAGTTCCTACACAATGCCTCCTTATAGAATACAGGCTGAAAACCATGGCCTGTTTTCATTATGTTAATCCTAAATAGTTAACCGGGATTTAGGAATTAATGGGAAAAAAATTAAAGCAAGTTTCAAGGGCCACTTGAATTTTGAGCAAGCAGTCTATCTTGGCCAGGGAAGCATCTTTGAACAGAAACAAACAGGTATTTGTAAGAGATTTCCTTGAGTTCACAAATATTTCTATGGAATGTGATAGCTGATCCCAAAAGAGAGAAACCAGAGATGTATTCATGAGTTCCATGCATATGATGGATTTTCTTAGGTATTTATTCCTGACCTTCTTATGCTACTCATTGACTTTAAAAAAGTATTTTTACCACAAATAAAGGAAATGAAACAGGGTAACATTGTTCCAGATCTCCAGGTAGGCTTTATCTGTGTTTATTTAGCAGCACAGATCACTGGGGGCACAGTTAAGTCCTCTTGAATTAGGAATACGTTTAGAGCTGAAAACCAGCTTTGGACCTTTTTGAAAAATAAATCACTAGATTAAAATTTATACTGTGCACTTAATAAAATATCCACGTGTAAATACAGGCTATTTTGCTTAATTACATTTGTGTGGCAGGCTTAGAAAAGTAAAGGATGTGAAGGAGTTTGCAGCTGTTGCCCTAGGATAGAAAGTTGTAGGAAGACCCTCCCTTATACTGTAATGTCTCTTAGGGGCAGTAGTTCTCATCAGGAAACATTGCTGCTTTCTTTAGTCTACGCTTAACCATATTGTCA
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TTATGAGAAATCATAAAGCATGAGTGGTAGCTCATGCCTGTAGTCCCAGCACTTTGGGAAGCCGAGGTGGGAGGATCCCCTTGAGCCCAGGAAATGGAGGTTGCAGTGAGCTGATCGCATCACTGCCCTCCAGCCTGGGTGACAGAGAGAGAGCCTGTCTCAAAAGAGAAAGAAAAAGAGAAATCAATGGGATCATTGAGGGATATTGGTGATTCCCACCTCAAAGGCTTGATGAATTGATTTTTCAATAGACTATTTTCTAGAGCAGTTTTTAGGTTCTCAGCAAGATTGTGCAAAAAGTCCAGAGAGTTCCCATATCTCCTCTTGTCCTCACACACTTGGCCTCCCCCACTACCGACATCCTACATCACAGTGAGACATTTGTGACAATTTGGGGAATCAACATTGATACATCATTATCACCTGAAGTCCATAGTTTACATTAGGGTTCTCTCTTGGCATTTTATTTTCTATGGGTTTTGATAAATGTATGATGCCATTTAGTCACCATTAAAATATCTTACAGAATAGTTTCACTGCCCTGAAATCATCTGTGCTCCTCCTATTTGTCTGTCCTTCCTGCTAACCCTTCACAGCCATGAACGTTCTTACTGCATGCATTGTTTTCCCTTTACAGAATGTGACATGGTTGGAATCAAACAGTATGTACCCTTTTCAGAGGGGCAAATTTCACTTAGTGATATGCATCCAAGGTTCTTCAGTGTCTGTCCATGGCTTGATAGTTCAGTTCAATTGATTTTTAGCGTACTTGTTGGATATCAATCATGTGAGAGTTTACCTGTTAGGAACCTCAAGAAACATTCAGCTGACAACTTTATTTTCCTCAAAAATAATGTAAAGTTCAATGTGACCTTAAGGTTATTTCATACATTTGGGAGATTTGGCATATTCTATAAACTCAGAAGGCCCATATAGGCTCTTATAGAGTGCCCTATAAGTCACCACAGAATCTTTCCGTAAAGAATGAGTAGTGGTTGACAGGAAATACATAGATGATATTGTTGGATGTAAATGTAAATAAACTGGTATAAAGACAAATTAGAGGCAGTAAAGTGACAAATCCAGAGTAGATTAAATGCACAGAGATGCATACCATGTCCTTCTGTAACCCAACTGGAGATTAGCCCACAAACTTGCCACCGGAATTCCTGGCCACCAAAGCTAAAAGAGAAACATATTAGTTACAAGTCCCACTGGTCCCCATGGAACAAGGGATTTGAGATTATTTTTTCATGTTGGTCTATGATAGACAGAATTTATTAACAATCCATCTTGTTTCAACAAGAATTTCCAGTTCAAGAGTAAATGTCCAGCTGTTGTTTCATGTGATGATTCTCAAATTAGACCTCTGGCTTAATGCCCATGCTCATTTGTACAATAGTAATTCCTGAGAGGCAAAAAATAACTGACTCACTGGCAGGAGCCTTCATTGATTACTTGTGCTGGGCACTAGTGCGACTTAAAATTATCATCCATTTTCATCCTTACTACACCTCTGTGATATAGGCATTATTCTTTCCATTTTGCTGGTAAGGAAATGCGGGTTTACTTTGACTGTAATCTGTACTGCTAGGGAGTAATAAAGGCTTGTGTTTCCACCTAGAATCTGCTGATTCCATTGTCTGTGTTCTTAAACGCTTTGCTCTAAGCACTGTGCTGTTAGGTGTATGAGGACCAGTGGAGTCCAGTAGACTTAATTCAGCGCGTCTCCCATCTCAGTTGATGGGCTGAATGCAGTGTTCAGGTTATGGATGTGTTGGGATAGAGAAATTTTCTAATGTAATCCAGCCACCCTTGAGCTTGCATTACTTCCAAACAGAGGGTTAGCTTTGAAGCCCTAAGTGATTGCCATTTTTGCTTTTCATTTTCACAAACAGATCTTCAAGTTGTTACAAGCCCCATTCACAGACTGCGGTGATGGCCCAATGCTTCGGCTGGAAGAGCTCGGGGACCAGCGGCACGCTCCTTTCAGACACATCTGCCGGCTCTGCTACAGGGTGCTGAGACACTCGCAGCAAGACTACAGGGAGAACCAGGTTTGGATTAAGCATTGGTGGGATGTGGTTGTCAGTTTCCTCCCTGAAGTTTGTGAACTTTCCTCCTGAGTTTTTAGTGTCACATGTCTATTTATAGAATGGATGCAGAATAGTTCAGTGTTGAGCTTGCTCTTGGGAAGGAAACACAAGCCCAGGAAGAATATTATTACCTAATCGTTAAGAAACGTACTGGAGAATTCTCTTCTGCAGACATCTTTCTATGAGATTTCTGGTTTTGGAGTTGGTTTTACATTTATAGAATTTTTTATGACGTATTCCCTTAGGGCTTAGGGGTGAAATGATGCCATGTGTTTATATTAAAGATATAGTGGAGTCTTTTCTTCCTGCACCTTTAAAATTCTCCGTCTCTTTCTAGAAACATGATCTTTATTTTGTTTCTGATTCATGTTTTATGACATTCTAAGTCATTGTCTATAGAGATATCTTATACATAGTTATATTTTACATATTATACATAGTATATGTGTATTTATATACACACACAATGTATAGTCTCCTATGAAATAAATGTCCTAGGAGCTCCAAACAACCTTCAGATTCTAAGAAAACCTGAGAACTATATTGCTACATCATTGGTTCTTAACTGGGGGTAATTTTGTCCCCCAAAGAATATTTGGCAACATCTGGAGACCCTTTTGAGTTTTATAACTTCATGGTGCTGCTGGCATCTGGTGAGGGGAGGCTAGGGATGCTCTCAAACACCCAGCAGTGCCAAGGACATCCCCACACAACCAAGAATTATCCTGCCTAAAATGTCAGTAGTGCTGAGGTTTAGAAAATTTGTGCCACATGGAGTACCGTAGGCATGCAAAATGATGCTTATCATAACCTTGACTCTTACCACTTTATGTGAACTATCCCTGCCTTTTGGGGCAAAAGGCTTTTGTTTTTAAGGTTTTGACTGCCACTATACTGGACTTTTAGAGTTTTTTCTTTGTAATTAAAGGTTTTTGTCATGTCATCATAAAGATAGTGTTGATCTTGAATAGTGCTTTTTTTGAAGTGTATCAAGCTGTGATTGCTTTAAATCCACCTTCAGTGCGTTGATACTGTAATCCAATAGCCAGAGAGATTTTATTCTGTTCCTCTCTCCCATCTTCAGATGAGGATACATCTGGGTCTGTGGGGTGTGTCAAGACACTTTGCTTGTACATGAGGAAACAAACTAGTTACTCTTGGAATTGCTGGATTAGACATCTTTGCTTAGTTGTTTTCGGATCCTTTACCAGTTGGCAGATGATAAGTTCCTACACAATGCCTCCTTATAGAATACAGGCTGAAAACCATGGCCTGTTTTCATTATGTTAATCCTAAATAGTTAACCGGGATTTAGGAATTAATGGGAAAAAAATTAAAGCAAGTTTCAAGGGCCACTTGAATTTTGAGCAAGCAGTCTATCTTGGCCAGGGAAGCATCTTTGAACAGAAACAAACAGGTATTTGTAAGAGATTTCCTTGAGTTCACAAATATTTCTATGGAATGTGATAGCTGATCCCAAAAGAGAGAAACCAGAGATGTATTCATGAGTTCCATGCATATGATGGATTTTCTTAGGTATTTATTCCTGACCTTCTTATGCTACTCATTGACTTTAAAAAAGTATTTTTACCACAAATAAAGGAAATGAAACAGGGTAACATTGTTCCAGATCTCCAGGTAGGCTTTATCTGTGTTTATTTAGCAGCACAGATCACTGGGGGCACAGTTAAGTCCTCTTGAATTAGGAATACGTTTAGAGCTGAAAACCAGCTTTGGACCTTTTTGAAAAATAAATCACTAGATTAAAATTTATACTGTGCACTTAATAAAATATCCACGTGTAAATACAGGCTATTTTGCTTAATTACATTTGTGTGGCAGGCTTAGAAAAGTAAAGGATGTGAAGGAGTTTGCAGCTGTTGCCCTAGGATAGAAAGTTGTAGGAAGACCCTCCCTTATACTGTAATGTCTCTTAGGGGCAGTAGTTCTCATCAGGAAACATTGCTGCTTTCTTTAGTCTACGCTTAACCATATTGTCA
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Task1_train_5880
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This gene mutation involves ITPR1 (inositol 1,4,5-trisphosphate receptor type 1) on Chromosome 3. Is it associated with any clinical condition, or is it benign?
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Pathogenic; not provided
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TGGATGCAGAATAGTTCAGTGTTGAGCTTGCTCTTGGGAAGGAAACACAAGCCCAGGAAGAATATTATTACCTAATCGTTAAGAAACGTACTGGAGAATTCTCTTCTGCAGACATCTTTCTATGAGATTTCTGGTTTTGGAGTTGGTTTTACATTTATAGAATTTTTTATGACGTATTCCCTTAGGGCTTAGGGGTGAAATGATGCCATGTGTTTATATTAAAGATATAGTGGAGTCTTTTCTTCCTGCACCTTTAAAATTCTCCGTCTCTTTCTAGAAACATGATCTTTATTTTGTTTCTGATTCATGTTTTATGACATTCTAAGTCATTGTCTATAGAGATATCTTATACATAGTTATATTTTACATATTATACATAGTATATGTGTATTTATATACACACACAATGTATAGTCTCCTATGAAATAAATGTCCTAGGAGCTCCAAACAACCTTCAGATTCTAAGAAAACCTGAGAACTATATTGCTACATCATTGGTTCTTAACTGGGGGTAATTTTGTCCCCCAAAGAATATTTGGCAACATCTGGAGACCCTTTTGAGTTTTATAACTTCATGGTGCTGCTGGCATCTGGTGAGGGGAGGCTAGGGATGCTCTCAAACACCCAGCAGTGCCAAGGACATCCCCACACAACCAAGAATTATCCTGCCTAAAATGTCAGTAGTGCTGAGGTTTAGAAAATTTGTGCCACATGGAGTACCGTAGGCATGCAAAATGATGCTTATCATAACCTTGACTCTTACCACTTTATGTGAACTATCCCTGCCTTTTGGGGCAAAAGGCTTTTGTTTTTAAGGTTTTGACTGCCACTATACTGGACTTTTAGAGTTTTTTCTTTGTAATTAAAGGTTTTTGTCATGTCATCATAAAGATAGTGTTGATCTTGAATAGTGCTTTTTTTGAAGTGTATCAAGCTGTGATTGCTTTAAATCCACCTTCAGTGCGTTGATACTGTAATCCAATAGCCAGAGAGATTTTATTCTGTTCCTCTCTCCCATCTTCAGATGAGGATACATCTGGGTCTGTGGGGTGTGTCAAGACACTTTGCTTGTACATGAGGAAACAAACTAGTTACTCTTGGAATTGCTGGATTAGACATCTTTGCTTAGTTGTTTTCGGATCCTTTACCAGTTGGCAGATGATAAGTTCCTACACAATGCCTCCTTATAGAATACAGGCTGAAAACCATGGCCTGTTTTCATTATGTTAATCCTAAATAGTTAACCGGGATTTAGGAATTAATGGGAAAAAAATTAAAGCAAGTTTCAAGGGCCACTTGAATTTTGAGCAAGCAGTCTATCTTGGCCAGGGAAGCATCTTTGAACAGAAACAAACAGGTATTTGTAAGAGATTTCCTTGAGTTCACAAATATTTCTATGGAATGTGATAGCTGATCCCAAAAGAGAGAAACCAGAGATGTATTCATGAGTTCCATGCATATGATGGATTTTCTTAGGTATTTATTCCTGACCTTCTTATGCTACTCATTGACTTTAAAAAAGTATTTTTACCACAAATAAAGGAAATGAAACAGGGTAACATTGTTCCAGATCTCCAGGTAGGCTTTATCTGTGTTTATTTAGCAGCACAGATCACTGGGGGCACAGTTAAGTCCTCTTGAATTAGGAATACGTTTAGAGCTGAAAACCAGCTTTGGACCTTTTTGAAAAATAAATCACTAGATTAAAATTTATACTGTGCACTTAATAAAATATCCACGTGTAAATACAGGCTATTTTGCTTAATTACATTTGTGTGGCAGGCTTAGAAAAGTAAAGGATGTGAAGGAGTTTGCAGCTGTTGCCCTAGGATAGAAAGTTGTAGGAAGACCCTCCCTTATACTGTAATGTCTCTTAGGGGCAGTAGTTCTCATCAGGAAACATTGCTGCTTTCTTTAGTCTACGCTTAACCATATTGTCATTTATCCTTCCTACTGACGTCTCTTTTCTCTCCTTATAAAGGAGTATATAGCCAAGCAGTTTGGCTTCATGCAGAAGCAGATTGGCTATGATGTGTTGGCTGAAGACACTATCACTGCCCTGCTCCACAATAATCGGAAACTCCTGGAAAAACACATTACCGCGGCAGAGATTGACACATTTGTCAGCCTGGTGCGAAAGAACAGGGAGCCCAGGTGAGGCGGGAGTGGGGTCCATGCAGGATGGTGTCTCTGCCTGTAAGATGCAGGGACTTAGCTGGTGCTTTTTACTACGTTTCCTTGTGCTGCTAGTGACAAGTTTTGATTAGTTAGGTCTGGAGAGGCTTTTTGATGAGTAGTGGCAAGAACTTGGTGTTAAAATGAGACCTGGGGGTGCATTCCTAGCTCCAGTGTGTCCCACCTGGATGAGCTTGGGTTTTTTCCTGAACTTTAATTTCCTTATCTGCTAAATGGGTAGTTATGAAAATTAAATGAGAATAAACGCAGGTGACGTGCAGGCACTTAGTGGATGCAGAGGAAATGACAAATTGTTGGCCACTCATTCACTTTTTAAAAAATGTTCTTAATTTTAATTTTTAATTTTTGTGGGTACGTAGTAGGTGTATATATTTATGGGGTACATGAGATGTTTTGATGTAGGCATGCAATGTGTAATAATCACATTGTAGAGAATGGGGTATCCATCCCCTCAAACATTTATTTTTTGTTACAAAGAATTCAGTTCTATTCTTTTAGTTATTTTAAAATGTACAATTAAATTATTGACTGTAATTACCCCATTTACCTACAAACAGTAGGTCTTATTCATTCTGTAATTACCCAATTTACCTACAAACAGTAGGTCTTATTCGTTCTTTCTATTTTTTTTTTTTTTTTTTTTACCTGTTAACATCCCCACCTCCCCCCTGCCCTCCCACTATCTTTCCCAGCCTCTGGTAACCATCCTTCTACTCTGTGTCCATGAGTTCAATTGTTTTGATTTTTAGATCCTACAAATAAGTGAGAAGATGCGATGTTTGTCTTTCTGTGCTTGGCTTATTTCACTTAGCATTATGACCTCCTCCAGTTCCATCCATGTTGTTGCAAATGACTGGATCTCACTCTTTTCATTCCCTTTTTCTTTTTTTTTTTAAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGGGCAGTGGCGAGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTGTTCTGCCTCAGGCTCCCCAGTAGCTGCGACTACAGGCACGTGCCACCACACCCAGCTAATTTTTGTGTTTTTAATAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGTCCGCCTTTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCTCGGCCTCATTCACTTTTTAGCACCTCTTGCTTATCAGTTAAACACTCCCCTCCCTCAGTATAATCAGTAAGAGTCTTGCAAGTTCAGTTGTTGGTTGAGCGTTTTTATTATAGATTAGTGAATTCTATTGATTGTATCTCATTCACACAGATCTGCTCCTCTTTCGTACACCCTCTCCCCATTTCTTTCCCCTTCTCTTGTCCTTCTAATTAAGACCCATATTTTCAGTTGAAGCGGGAAGCAATTTACAATGTGGGTGTCACAAATGATTACAATGGAGCACGGACACAGTTGCTGTAAAAACACCTACTACCACCCTTGAAAATAACCCGCATTTTCTGGAGCCTGCTCAAGGGCTCAGGTAGTGAGCAATGGAAGCACTTCCGTTAATTATCTCATTTAATCCGCAGGACAGCCCTCAGAAGTGACACATTATCCTTTTCTGTAGACGAGCATCAATTAAAGCACAGTGAAATTAGTAATTTCCCCAAATGAACGCTCCATAGCAGAACTCCGCTAATAAGATCCTAACTGGGCTTCCAACACACGTAGCCAAACATCAGGGCGTTGCCTCTCACCACTGTGGTTCCCCTGTGTCTCCACCACACCTTCCTTATGTGAGCTGCTTTCTTGTCTTGTTCCTTCTTCTCATCTTTGCCTCATCACCTCTTCCTTGACCACAGCCACTCCTGTCTTTCCTTCTTGTTTCCTCTTCCTTCTTTCTGGCATGT
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TGGATGCAGAATAGTTCAGTGTTGAGCTTGCTCTTGGGAAGGAAACACAAGCCCAGGAAGAATATTATTACCTAATCGTTAAGAAACGTACTGGAGAATTCTCTTCTGCAGACATCTTTCTATGAGATTTCTGGTTTTGGAGTTGGTTTTACATTTATAGAATTTTTTATGACGTATTCCCTTAGGGCTTAGGGGTGAAATGATGCCATGTGTTTATATTAAAGATATAGTGGAGTCTTTTCTTCCTGCACCTTTAAAATTCTCCGTCTCTTTCTAGAAACATGATCTTTATTTTGTTTCTGATTCATGTTTTATGACATTCTAAGTCATTGTCTATAGAGATATCTTATACATAGTTATATTTTACATATTATACATAGTATATGTGTATTTATATACACACACAATGTATAGTCTCCTATGAAATAAATGTCCTAGGAGCTCCAAACAACCTTCAGATTCTAAGAAAACCTGAGAACTATATTGCTACATCATTGGTTCTTAACTGGGGGTAATTTTGTCCCCCAAAGAATATTTGGCAACATCTGGAGACCCTTTTGAGTTTTATAACTTCATGGTGCTGCTGGCATCTGGTGAGGGGAGGCTAGGGATGCTCTCAAACACCCAGCAGTGCCAAGGACATCCCCACACAACCAAGAATTATCCTGCCTAAAATGTCAGTAGTGCTGAGGTTTAGAAAATTTGTGCCACATGGAGTACCGTAGGCATGCAAAATGATGCTTATCATAACCTTGACTCTTACCACTTTATGTGAACTATCCCTGCCTTTTGGGGCAAAAGGCTTTTGTTTTTAAGGTTTTGACTGCCACTATACTGGACTTTTAGAGTTTTTTCTTTGTAATTAAAGGTTTTTGTCATGTCATCATAAAGATAGTGTTGATCTTGAATAGTGCTTTTTTTGAAGTGTATCAAGCTGTGATTGCTTTAAATCCACCTTCAGTGCGTTGATACTGTAATCCAATAGCCAGAGAGATTTTATTCTGTTCCTCTCTCCCATCTTCAGATGAGGATACATCTGGGTCTGTGGGGTGTGTCAAGACACTTTGCTTGTACATGAGGAAACAAACTAGTTACTCTTGGAATTGCTGGATTAGACATCTTTGCTTAGTTGTTTTCGGATCCTTTACCAGTTGGCAGATGATAAGTTCCTACACAATGCCTCCTTATAGAATACAGGCTGAAAACCATGGCCTGTTTTCATTATGTTAATCCTAAATAGTTAACCGGGATTTAGGAATTAATGGGAAAAAAATTAAAGCAAGTTTCAAGGGCCACTTGAATTTTGAGCAAGCAGTCTATCTTGGCCAGGGAAGCATCTTTGAACAGAAACAAACAGGTATTTGTAAGAGATTTCCTTGAGTTCACAAATATTTCTATGGAATGTGATAGCTGATCCCAAAAGAGAGAAACCAGAGATGTATTCATGAGTTCCATGCATATGATGGATTTTCTTAGGTATTTATTCCTGACCTTCTTATGCTACTCATTGACTTTAAAAAAGTATTTTTACCACAAATAAAGGAAATGAAACAGGGTAACATTGTTCCAGATCTCCAGGTAGGCTTTATCTGTGTTTATTTAGCAGCACAGATCACTGGGGGCACAGTTAAGTCCTCTTGAATTAGGAATACGTTTAGAGCTGAAAACCAGCTTTGGACCTTTTTGAAAAATAAATCACTAGATTAAAATTTATACTGTGCACTTAATAAAATATCCACGTGTAAATACAGGCTATTTTGCTTAATTACATTTGTGTGGCAGGCTTAGAAAAGTAAAGGATGTGAAGGAGTTTGCAGCTGTTGCCCTAGGATAGAAAGTTGTAGGAAGACCCTCCCTTATACTGTAATGTCTCTTAGGGGCAGTAGTTCTCATCAGGAAACATTGCTGCTTTCTTTAGTCTACGCTTAACCATATTGTCATTTATCCTTCCTACTGACGTCTCTTTTCTCTCCTTATAAAGGAGTATATAGCCAAGCAGTTTGGCTTCATGCAGAAGCAGATTGGCTATGATGTGTTGGCTGAAGACATTATCACTGCCCTGCTCCACAATAATCGGAAACTCCTGGAAAAACACATTACCGCGGCAGAGATTGACACATTTGTCAGCCTGGTGCGAAAGAACAGGGAGCCCAGGTGAGGCGGGAGTGGGGTCCATGCAGGATGGTGTCTCTGCCTGTAAGATGCAGGGACTTAGCTGGTGCTTTTTACTACGTTTCCTTGTGCTGCTAGTGACAAGTTTTGATTAGTTAGGTCTGGAGAGGCTTTTTGATGAGTAGTGGCAAGAACTTGGTGTTAAAATGAGACCTGGGGGTGCATTCCTAGCTCCAGTGTGTCCCACCTGGATGAGCTTGGGTTTTTTCCTGAACTTTAATTTCCTTATCTGCTAAATGGGTAGTTATGAAAATTAAATGAGAATAAACGCAGGTGACGTGCAGGCACTTAGTGGATGCAGAGGAAATGACAAATTGTTGGCCACTCATTCACTTTTTAAAAAATGTTCTTAATTTTAATTTTTAATTTTTGTGGGTACGTAGTAGGTGTATATATTTATGGGGTACATGAGATGTTTTGATGTAGGCATGCAATGTGTAATAATCACATTGTAGAGAATGGGGTATCCATCCCCTCAAACATTTATTTTTTGTTACAAAGAATTCAGTTCTATTCTTTTAGTTATTTTAAAATGTACAATTAAATTATTGACTGTAATTACCCCATTTACCTACAAACAGTAGGTCTTATTCATTCTGTAATTACCCAATTTACCTACAAACAGTAGGTCTTATTCGTTCTTTCTATTTTTTTTTTTTTTTTTTTTACCTGTTAACATCCCCACCTCCCCCCTGCCCTCCCACTATCTTTCCCAGCCTCTGGTAACCATCCTTCTACTCTGTGTCCATGAGTTCAATTGTTTTGATTTTTAGATCCTACAAATAAGTGAGAAGATGCGATGTTTGTCTTTCTGTGCTTGGCTTATTTCACTTAGCATTATGACCTCCTCCAGTTCCATCCATGTTGTTGCAAATGACTGGATCTCACTCTTTTCATTCCCTTTTTCTTTTTTTTTTTAAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGGGCAGTGGCGAGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTGTTCTGCCTCAGGCTCCCCAGTAGCTGCGACTACAGGCACGTGCCACCACACCCAGCTAATTTTTGTGTTTTTAATAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGTCCGCCTTTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCTCGGCCTCATTCACTTTTTAGCACCTCTTGCTTATCAGTTAAACACTCCCCTCCCTCAGTATAATCAGTAAGAGTCTTGCAAGTTCAGTTGTTGGTTGAGCGTTTTTATTATAGATTAGTGAATTCTATTGATTGTATCTCATTCACACAGATCTGCTCCTCTTTCGTACACCCTCTCCCCATTTCTTTCCCCTTCTCTTGTCCTTCTAATTAAGACCCATATTTTCAGTTGAAGCGGGAAGCAATTTACAATGTGGGTGTCACAAATGATTACAATGGAGCACGGACACAGTTGCTGTAAAAACACCTACTACCACCCTTGAAAATAACCCGCATTTTCTGGAGCCTGCTCAAGGGCTCAGGTAGTGAGCAATGGAAGCACTTCCGTTAATTATCTCATTTAATCCGCAGGACAGCCCTCAGAAGTGACACATTATCCTTTTCTGTAGACGAGCATCAATTAAAGCACAGTGAAATTAGTAATTTCCCCAAATGAACGCTCCATAGCAGAACTCCGCTAATAAGATCCTAACTGGGCTTCCAACACACGTAGCCAAACATCAGGGCGTTGCCTCTCACCACTGTGGTTCCCCTGTGTCTCCACCACACCTTCCTTATGTGAGCTGCTTTCTTGTCTTGTTCCTTCTTCTCATCTTTGCCTCATCACCTCTTCCTTGACCACAGCCACTCCTGTCTTTCCTTCTTGTTTCCTCTTCCTTCTTTCTGGCATGT
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Task1_train_5881
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The variant affects gene ITPR1 (inositol 1,4,5-trisphosphate receptor type 1), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Spinocerebellar ataxia type 29
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GAGCTTGCTCTTGGGAAGGAAACACAAGCCCAGGAAGAATATTATTACCTAATCGTTAAGAAACGTACTGGAGAATTCTCTTCTGCAGACATCTTTCTATGAGATTTCTGGTTTTGGAGTTGGTTTTACATTTATAGAATTTTTTATGACGTATTCCCTTAGGGCTTAGGGGTGAAATGATGCCATGTGTTTATATTAAAGATATAGTGGAGTCTTTTCTTCCTGCACCTTTAAAATTCTCCGTCTCTTTCTAGAAACATGATCTTTATTTTGTTTCTGATTCATGTTTTATGACATTCTAAGTCATTGTCTATAGAGATATCTTATACATAGTTATATTTTACATATTATACATAGTATATGTGTATTTATATACACACACAATGTATAGTCTCCTATGAAATAAATGTCCTAGGAGCTCCAAACAACCTTCAGATTCTAAGAAAACCTGAGAACTATATTGCTACATCATTGGTTCTTAACTGGGGGTAATTTTGTCCCCCAAAGAATATTTGGCAACATCTGGAGACCCTTTTGAGTTTTATAACTTCATGGTGCTGCTGGCATCTGGTGAGGGGAGGCTAGGGATGCTCTCAAACACCCAGCAGTGCCAAGGACATCCCCACACAACCAAGAATTATCCTGCCTAAAATGTCAGTAGTGCTGAGGTTTAGAAAATTTGTGCCACATGGAGTACCGTAGGCATGCAAAATGATGCTTATCATAACCTTGACTCTTACCACTTTATGTGAACTATCCCTGCCTTTTGGGGCAAAAGGCTTTTGTTTTTAAGGTTTTGACTGCCACTATACTGGACTTTTAGAGTTTTTTCTTTGTAATTAAAGGTTTTTGTCATGTCATCATAAAGATAGTGTTGATCTTGAATAGTGCTTTTTTTGAAGTGTATCAAGCTGTGATTGCTTTAAATCCACCTTCAGTGCGTTGATACTGTAATCCAATAGCCAGAGAGATTTTATTCTGTTCCTCTCTCCCATCTTCAGATGAGGATACATCTGGGTCTGTGGGGTGTGTCAAGACACTTTGCTTGTACATGAGGAAACAAACTAGTTACTCTTGGAATTGCTGGATTAGACATCTTTGCTTAGTTGTTTTCGGATCCTTTACCAGTTGGCAGATGATAAGTTCCTACACAATGCCTCCTTATAGAATACAGGCTGAAAACCATGGCCTGTTTTCATTATGTTAATCCTAAATAGTTAACCGGGATTTAGGAATTAATGGGAAAAAAATTAAAGCAAGTTTCAAGGGCCACTTGAATTTTGAGCAAGCAGTCTATCTTGGCCAGGGAAGCATCTTTGAACAGAAACAAACAGGTATTTGTAAGAGATTTCCTTGAGTTCACAAATATTTCTATGGAATGTGATAGCTGATCCCAAAAGAGAGAAACCAGAGATGTATTCATGAGTTCCATGCATATGATGGATTTTCTTAGGTATTTATTCCTGACCTTCTTATGCTACTCATTGACTTTAAAAAAGTATTTTTACCACAAATAAAGGAAATGAAACAGGGTAACATTGTTCCAGATCTCCAGGTAGGCTTTATCTGTGTTTATTTAGCAGCACAGATCACTGGGGGCACAGTTAAGTCCTCTTGAATTAGGAATACGTTTAGAGCTGAAAACCAGCTTTGGACCTTTTTGAAAAATAAATCACTAGATTAAAATTTATACTGTGCACTTAATAAAATATCCACGTGTAAATACAGGCTATTTTGCTTAATTACATTTGTGTGGCAGGCTTAGAAAAGTAAAGGATGTGAAGGAGTTTGCAGCTGTTGCCCTAGGATAGAAAGTTGTAGGAAGACCCTCCCTTATACTGTAATGTCTCTTAGGGGCAGTAGTTCTCATCAGGAAACATTGCTGCTTTCTTTAGTCTACGCTTAACCATATTGTCATTTATCCTTCCTACTGACGTCTCTTTTCTCTCCTTATAAAGGAGTATATAGCCAAGCAGTTTGGCTTCATGCAGAAGCAGATTGGCTATGATGTGTTGGCTGAAGACACTATCACTGCCCTGCTCCACAATAATCGGAAACTCCTGGAAAAACACATTACCGCGGCAGAGATTGACACATTTGTCAGCCTGGTGCGAAAGAACAGGGAGCCCAGGTGAGGCGGGAGTGGGGTCCATGCAGGATGGTGTCTCTGCCTGTAAGATGCAGGGACTTAGCTGGTGCTTTTTACTACGTTTCCTTGTGCTGCTAGTGACAAGTTTTGATTAGTTAGGTCTGGAGAGGCTTTTTGATGAGTAGTGGCAAGAACTTGGTGTTAAAATGAGACCTGGGGGTGCATTCCTAGCTCCAGTGTGTCCCACCTGGATGAGCTTGGGTTTTTTCCTGAACTTTAATTTCCTTATCTGCTAAATGGGTAGTTATGAAAATTAAATGAGAATAAACGCAGGTGACGTGCAGGCACTTAGTGGATGCAGAGGAAATGACAAATTGTTGGCCACTCATTCACTTTTTAAAAAATGTTCTTAATTTTAATTTTTAATTTTTGTGGGTACGTAGTAGGTGTATATATTTATGGGGTACATGAGATGTTTTGATGTAGGCATGCAATGTGTAATAATCACATTGTAGAGAATGGGGTATCCATCCCCTCAAACATTTATTTTTTGTTACAAAGAATTCAGTTCTATTCTTTTAGTTATTTTAAAATGTACAATTAAATTATTGACTGTAATTACCCCATTTACCTACAAACAGTAGGTCTTATTCATTCTGTAATTACCCAATTTACCTACAAACAGTAGGTCTTATTCGTTCTTTCTATTTTTTTTTTTTTTTTTTTTACCTGTTAACATCCCCACCTCCCCCCTGCCCTCCCACTATCTTTCCCAGCCTCTGGTAACCATCCTTCTACTCTGTGTCCATGAGTTCAATTGTTTTGATTTTTAGATCCTACAAATAAGTGAGAAGATGCGATGTTTGTCTTTCTGTGCTTGGCTTATTTCACTTAGCATTATGACCTCCTCCAGTTCCATCCATGTTGTTGCAAATGACTGGATCTCACTCTTTTCATTCCCTTTTTCTTTTTTTTTTTAAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGGGCAGTGGCGAGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTGTTCTGCCTCAGGCTCCCCAGTAGCTGCGACTACAGGCACGTGCCACCACACCCAGCTAATTTTTGTGTTTTTAATAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGTCCGCCTTTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCTCGGCCTCATTCACTTTTTAGCACCTCTTGCTTATCAGTTAAACACTCCCCTCCCTCAGTATAATCAGTAAGAGTCTTGCAAGTTCAGTTGTTGGTTGAGCGTTTTTATTATAGATTAGTGAATTCTATTGATTGTATCTCATTCACACAGATCTGCTCCTCTTTCGTACACCCTCTCCCCATTTCTTTCCCCTTCTCTTGTCCTTCTAATTAAGACCCATATTTTCAGTTGAAGCGGGAAGCAATTTACAATGTGGGTGTCACAAATGATTACAATGGAGCACGGACACAGTTGCTGTAAAAACACCTACTACCACCCTTGAAAATAACCCGCATTTTCTGGAGCCTGCTCAAGGGCTCAGGTAGTGAGCAATGGAAGCACTTCCGTTAATTATCTCATTTAATCCGCAGGACAGCCCTCAGAAGTGACACATTATCCTTTTCTGTAGACGAGCATCAATTAAAGCACAGTGAAATTAGTAATTTCCCCAAATGAACGCTCCATAGCAGAACTCCGCTAATAAGATCCTAACTGGGCTTCCAACACACGTAGCCAAACATCAGGGCGTTGCCTCTCACCACTGTGGTTCCCCTGTGTCTCCACCACACCTTCCTTATGTGAGCTGCTTTCTTGTCTTGTTCCTTCTTCTCATCTTTGCCTCATCACCTCTTCCTTGACCACAGCCACTCCTGTCTTTCCTTCTTGTTTCCTCTTCCTTCTTTCTGGCATGTGGCTTTCTGGTGATGCCATAAAC
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GAGCTTGCTCTTGGGAAGGAAACACAAGCCCAGGAAGAATATTATTACCTAATCGTTAAGAAACGTACTGGAGAATTCTCTTCTGCAGACATCTTTCTATGAGATTTCTGGTTTTGGAGTTGGTTTTACATTTATAGAATTTTTTATGACGTATTCCCTTAGGGCTTAGGGGTGAAATGATGCCATGTGTTTATATTAAAGATATAGTGGAGTCTTTTCTTCCTGCACCTTTAAAATTCTCCGTCTCTTTCTAGAAACATGATCTTTATTTTGTTTCTGATTCATGTTTTATGACATTCTAAGTCATTGTCTATAGAGATATCTTATACATAGTTATATTTTACATATTATACATAGTATATGTGTATTTATATACACACACAATGTATAGTCTCCTATGAAATAAATGTCCTAGGAGCTCCAAACAACCTTCAGATTCTAAGAAAACCTGAGAACTATATTGCTACATCATTGGTTCTTAACTGGGGGTAATTTTGTCCCCCAAAGAATATTTGGCAACATCTGGAGACCCTTTTGAGTTTTATAACTTCATGGTGCTGCTGGCATCTGGTGAGGGGAGGCTAGGGATGCTCTCAAACACCCAGCAGTGCCAAGGACATCCCCACACAACCAAGAATTATCCTGCCTAAAATGTCAGTAGTGCTGAGGTTTAGAAAATTTGTGCCACATGGAGTACCGTAGGCATGCAAAATGATGCTTATCATAACCTTGACTCTTACCACTTTATGTGAACTATCCCTGCCTTTTGGGGCAAAAGGCTTTTGTTTTTAAGGTTTTGACTGCCACTATACTGGACTTTTAGAGTTTTTTCTTTGTAATTAAAGGTTTTTGTCATGTCATCATAAAGATAGTGTTGATCTTGAATAGTGCTTTTTTTGAAGTGTATCAAGCTGTGATTGCTTTAAATCCACCTTCAGTGCGTTGATACTGTAATCCAATAGCCAGAGAGATTTTATTCTGTTCCTCTCTCCCATCTTCAGATGAGGATACATCTGGGTCTGTGGGGTGTGTCAAGACACTTTGCTTGTACATGAGGAAACAAACTAGTTACTCTTGGAATTGCTGGATTAGACATCTTTGCTTAGTTGTTTTCGGATCCTTTACCAGTTGGCAGATGATAAGTTCCTACACAATGCCTCCTTATAGAATACAGGCTGAAAACCATGGCCTGTTTTCATTATGTTAATCCTAAATAGTTAACCGGGATTTAGGAATTAATGGGAAAAAAATTAAAGCAAGTTTCAAGGGCCACTTGAATTTTGAGCAAGCAGTCTATCTTGGCCAGGGAAGCATCTTTGAACAGAAACAAACAGGTATTTGTAAGAGATTTCCTTGAGTTCACAAATATTTCTATGGAATGTGATAGCTGATCCCAAAAGAGAGAAACCAGAGATGTATTCATGAGTTCCATGCATATGATGGATTTTCTTAGGTATTTATTCCTGACCTTCTTATGCTACTCATTGACTTTAAAAAAGTATTTTTACCACAAATAAAGGAAATGAAACAGGGTAACATTGTTCCAGATCTCCAGGTAGGCTTTATCTGTGTTTATTTAGCAGCACAGATCACTGGGGGCACAGTTAAGTCCTCTTGAATTAGGAATACGTTTAGAGCTGAAAACCAGCTTTGGACCTTTTTGAAAAATAAATCACTAGATTAAAATTTATACTGTGCACTTAATAAAATATCCACGTGTAAATACAGGCTATTTTGCTTAATTACATTTGTGTGGCAGGCTTAGAAAAGTAAAGGATGTGAAGGAGTTTGCAGCTGTTGCCCTAGGATAGAAAGTTGTAGGAAGACCCTCCCTTATACTGTAATGTCTCTTAGGGGCAGTAGTTCTCATCAGGAAACATTGCTGCTTTCTTTAGTCTACGCTTAACCATATTGTCATTTATCCTTCCTACTGACGTCTCTTTTCTCTCCTTATAAAGGAGTATATAGCCAAGCAGTTTGGCTTCATGCAGAAGCAGATTGGCTATGATGTGTTGGCTGAAGACACTATCACTGCCCTGCTCCACAATGATCGGAAACTCCTGGAAAAACACATTACCGCGGCAGAGATTGACACATTTGTCAGCCTGGTGCGAAAGAACAGGGAGCCCAGGTGAGGCGGGAGTGGGGTCCATGCAGGATGGTGTCTCTGCCTGTAAGATGCAGGGACTTAGCTGGTGCTTTTTACTACGTTTCCTTGTGCTGCTAGTGACAAGTTTTGATTAGTTAGGTCTGGAGAGGCTTTTTGATGAGTAGTGGCAAGAACTTGGTGTTAAAATGAGACCTGGGGGTGCATTCCTAGCTCCAGTGTGTCCCACCTGGATGAGCTTGGGTTTTTTCCTGAACTTTAATTTCCTTATCTGCTAAATGGGTAGTTATGAAAATTAAATGAGAATAAACGCAGGTGACGTGCAGGCACTTAGTGGATGCAGAGGAAATGACAAATTGTTGGCCACTCATTCACTTTTTAAAAAATGTTCTTAATTTTAATTTTTAATTTTTGTGGGTACGTAGTAGGTGTATATATTTATGGGGTACATGAGATGTTTTGATGTAGGCATGCAATGTGTAATAATCACATTGTAGAGAATGGGGTATCCATCCCCTCAAACATTTATTTTTTGTTACAAAGAATTCAGTTCTATTCTTTTAGTTATTTTAAAATGTACAATTAAATTATTGACTGTAATTACCCCATTTACCTACAAACAGTAGGTCTTATTCATTCTGTAATTACCCAATTTACCTACAAACAGTAGGTCTTATTCGTTCTTTCTATTTTTTTTTTTTTTTTTTTTACCTGTTAACATCCCCACCTCCCCCCTGCCCTCCCACTATCTTTCCCAGCCTCTGGTAACCATCCTTCTACTCTGTGTCCATGAGTTCAATTGTTTTGATTTTTAGATCCTACAAATAAGTGAGAAGATGCGATGTTTGTCTTTCTGTGCTTGGCTTATTTCACTTAGCATTATGACCTCCTCCAGTTCCATCCATGTTGTTGCAAATGACTGGATCTCACTCTTTTCATTCCCTTTTTCTTTTTTTTTTTAAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGGGCAGTGGCGAGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTGTTCTGCCTCAGGCTCCCCAGTAGCTGCGACTACAGGCACGTGCCACCACACCCAGCTAATTTTTGTGTTTTTAATAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGTCCGCCTTTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCTCGGCCTCATTCACTTTTTAGCACCTCTTGCTTATCAGTTAAACACTCCCCTCCCTCAGTATAATCAGTAAGAGTCTTGCAAGTTCAGTTGTTGGTTGAGCGTTTTTATTATAGATTAGTGAATTCTATTGATTGTATCTCATTCACACAGATCTGCTCCTCTTTCGTACACCCTCTCCCCATTTCTTTCCCCTTCTCTTGTCCTTCTAATTAAGACCCATATTTTCAGTTGAAGCGGGAAGCAATTTACAATGTGGGTGTCACAAATGATTACAATGGAGCACGGACACAGTTGCTGTAAAAACACCTACTACCACCCTTGAAAATAACCCGCATTTTCTGGAGCCTGCTCAAGGGCTCAGGTAGTGAGCAATGGAAGCACTTCCGTTAATTATCTCATTTAATCCGCAGGACAGCCCTCAGAAGTGACACATTATCCTTTTCTGTAGACGAGCATCAATTAAAGCACAGTGAAATTAGTAATTTCCCCAAATGAACGCTCCATAGCAGAACTCCGCTAATAAGATCCTAACTGGGCTTCCAACACACGTAGCCAAACATCAGGGCGTTGCCTCTCACCACTGTGGTTCCCCTGTGTCTCCACCACACCTTCCTTATGTGAGCTGCTTTCTTGTCTTGTTCCTTCTTCTCATCTTTGCCTCATCACCTCTTCCTTGACCACAGCCACTCCTGTCTTTCCTTCTTGTTTCCTCTTCCTTCTTTCTGGCATGTGGCTTTCTGGTGATGCCATAAAC
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Task1_train_5882
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Mutation context: Chromosome 3, Gene ITPR1 (inositol 1,4,5-trisphosphate receptor type 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Spinocerebellar ataxia type 15/16
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TATATTTTCAGTTACTGTTTTGTAGGGAAGGCTGCTCTTCCAGAGCTCTCAGAGGCCTTCCCTTTATTATGTTAGTAAATATTTAGTCTCTGGGCTTAGGTTGTTTTGGTGCTATCTTTGGAACTGTTAGTACTCAAGTCAGAGTTAACTTGGTTGGCTTGATTGGGAGGAGAGAGAGAGTGAGAGAGAGAGAGAGAGAAAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCCCACCTAGGACAGAAAGGATTTAAGGAGATTTCTCAAAATACCTACATTACAAGATTATTTTTACATAGTGAGGAAATGCAATCAAAAGAAGAATAGAAAGAGAGAGGGGCTCAAAACAGAGTGAAGTTAGTAAGATCATGTCCTGCTGCTGCTGCTGGGCTACAATTTTATCCCTGAGCTCCTTACAGGCTATGCAACAAAGAAAGCAAAATCTGGTCTTTCATTGTTCCTAATATTAATGTATGAACCCCTTTAAAAAAAAACCGCACTGGTCAATTTTGACTTAAGACATTATTATAATTATGGAACTCTTATACCTCCAAGTATAAAATTTGGTATAAACACCATATGCACATAGTTCTTATAATTAGCACACTTGGTTTGATTATTGCTTTATAACATATTACTCCAAAAAACTTAAGGATTCAAACCACCACCATTTTATTAATACTTCTTACAGTCCTGTGGCTTGATTAAGCTGGATGGTTCTTCTGCTGGTGGTCACTGTTGGGTCTGTCATACTGTAGTGAGGTGGTAACTGGGGCTGGCACCTCCAAGTTGGATTATTCACATTTCTGGCACTATAGCAGAGATGCCTGCAAGGCCAGAACTTCTTTCTCTCTCTGTCCATGTGGATAGCTTGGGCTTCTTTACAGCACGGTGGCTGACTCAAAAAGCAAATGTTCTAAGAGGACAAGCCAACAGTATGCAAGTGCTAATTGGGCCTCTGCTTGCATTGCATCTCCTAATATCTTATTGTTCAAGCAAATCCCATGGCCAAGCTCATTGTCAGTGTGGGAGGGGACTACATAAGGGTTTGAACACTCTGTTGGGGCCCACCAGTGTTAATAGTCTACCTCAATGCTTAATATAAAACCTGTGAAATTTGAATTAGCAACATTATGTACTATGATGGAAGATGTTTTTCTGAAACTTAAACATGGTATTGTGAGTTTAGCATAATACAGGTTCCATGTGCTGTGTGATCACTCAGCTCTCCCGCCATTTTCCTCATAGTGAACAGCATTGAAACCTTCACACCTTTTTGGAATACATAGCATGAATACAGTATTTATAAGTCTTCTCTGTGCTTTTCTTATTAGCCAGCAACCAGGAAGTTTCCACCATTTGTCATTCATTTGACTCTAAACCCAATATAGGTGCAGACCCAATAATTGACTAGCAGTGCTCAGTTATGGAGTAGTCTGCCATTTGATCTAGGATATGCTTATTAATATTTAAATATAGTCAGGCATGGTAGTGCATTCCTATAGTCCCAGCTACTCAGTATGCTAAGGCAGGAGGATCATTTGAGCATAGGAGTTTGAATTCAGCCTGGGCAACATAGCAAGACCTCATCTCTAAAAACTAAATACATAAACTAATAACTTAGGAGAAACACATCCTCTTGCAGTTCTCAGACCACAGACGAAGCCCAGCAGAAGAACACCCTATGTAGATGTTGAGAATCTAATGCTAGTCTTGTCACTTTGGCTTAAAATTTGACTTATCTTTTAATATGACATCTTCCTTGTCCCCTCACCTCATAATATAGTTGAAGATGAAGCAAGGCTGTATTGTTAAAGGAGCTAATGAAAAGTGAAATTGCATGTCTGGAGATCACAGTGCTAGAAATGCAACTAGGTTAGGTGCATCTGGGCCCAAGGGGCGTGAGAGGAGGCATTTGTCATTCATTTGGCCTTTCCCCACCTTGTGCTCCTTTAGTGAGGAGAACACCCCACTGGACTTGGATGACCACGGCGGCAGAACCTTTCTCCGTGTCCTGCTCCACTTGACGATGCATGACTACCCACCCCTGGTGTCAGGGGCCCTGCAGCTCCTCTTCCGGCACTTCAGCCAGAGGCAGGAGGTGCTCCAGGCCTTCAAACAGGTAGCTCAGGTCACCCACGTGTGTGTTGTCTGTCCAAGAAGCTGTTGTGTGCACCTAACGGATTGCGTTCATTAAGGTTCAACTGCTGGTTACCAGCCAAGATGTGGACAACTACAAACAGATCAAACAAGACTTGGATCAACTGAGGTCCATCGTGGAAAAGTCAGAGCTTTGGGTGTACAAAGGGCAGGGCCCCGATGAGACTATGGATGGTGCATCTGGAGAAAATGAACATAAGAAAACGGAGGTGAGTGAAACACAAGTTATGCTGCCAAAGTGGATGGATGGGCTTCTCGAAACTAGGGAGCATCCTCTTCTGGTTTTAGGTATAAATGTGATAGGATTTATTTTCAAGAGATCTGCTTGTTAAGTCACCAAGATCACAAGCTGTTTGCCTAGGAAATAAGCTACGAATCAAAGTTTAGCTATGTCTCCTGTGCAGCCTTGGACCATGTAGAAGAGACTGCGATATTGAGTGAATTAGCACCAGGTTTCCCTTACAGACCCACTTGGGAATTGACCTGTTCTCTAGGCATGGCCCAGCCCACTACTATCCCTTCCCAAGGAAACCCATAGCAAGTAGGTAGATGACTGGGGCATAAGCCCAGCATGACTATTGTAAAACAGTATAGAACTCCCTTTCTTTCCTAAAGGTCGATGCTAACTGTAAAAAACTGACAGTAGCCCAAGAGTTGTACAGATCACACTTGTGTTCACTTTGGTTTCTAGGAGGGAAATAACAAGCCACAAAAGCATGAAAGCACCAGCAGCTACAACTACAGAGTGGTCAAAGAGGTAAGCTCCTCCCCCACCACCATTTTTCCTTTCTTTATGAATTCTCTAAGGAGCTTTAGTTTGTGATAGTCAAGTTGAAGGTACACACATTTGAGCTTTTTTCTTCATGTGGTTTAACAGGGAGAAAGTAGAGCTCAGAGGTTAAGCTCATGGGTTTTGGCATCAGATCTGGGCTCCACACCCAGCTCTTCTACTTATTATTTTTGTCCTCAGCTTCCTCACCTTTTGTAGGTGCAACCTTTCGTAGGCACCGCATATTTCTGAAGCTTTACAATTGAAGGAAGGACTAATTGAGAATACTGTCAGGGAGTCATCTAAGTGCCTGGTACACAGTGTCCCCACTGAGAGCTGTAGTTTTTTAGAAACCTTTGCGTACGCTGGTTCAAAGTTGGGAGGCTGGGAGCTTTGTGTGTTTTACCCCAGAGCAAACTCTTCCCAGGGTCTCGGCAATGATGCCAGGTCATTCCATTTTAAGCGATATCTCTGAAACTGTCCCACTTGTTGTTGAAGCCATAATCCCCTGCTTATTCTGGAAGACGTGACCTTAGTCTTATGGATTTGGCTTGATGGAGTCAACAGAAATGCCACATACTGAAGGAATTTTGTTTTACGTTTTTAATGCATTATAATCCCCTTTGCCTCCCTGCCCGCCACCACCCTCTGCAATCTTTTTCCAGCTATAGTTCCTAGTTTTCTGAGACTGATTTCTTTCATTCTACTAGATTTTGATTCGGCTTAGCAAACTCTGTGTTCAAGAGAGTGCCTCAGTGAGAAAGAGCAGGAAGCAGCAACAGCGTCTGCTCCGGAACATGGGCGCGCACGCCGTGGTGCTGGAGCTGCTGCAGATTCCCTATGAGAAGGTGAGCGGTGCCTCATGCACAGCAGCTGCTCTCAGGATGGGGCGGATCCCTGGGTTTCCCCAAACTCTTCACATCTGGATATTGTTAGTGAAGAAATGCATCCAGTGTGACTATTGTGACTACAAAGCAATTTCAGGTATTGATATGAAACAGAGCATCTGAAAAATAAAGTAAAATCACCCGTGAATAATCCTCATCCCCAGTTTTAAGATTCTGTAAAGAAAGAGAGTCCATTTATTCTCCATACTCCCAAGACATATTGGATAGAGACAACTTGGTCTGTGTCAGAGCTTAGAGCTATATCTACCCATGA
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TATATTTTCAGTTACTGTTTTGTAGGGAAGGCTGCTCTTCCAGAGCTCTCAGAGGCCTTCCCTTTATTATGTTAGTAAATATTTAGTCTCTGGGCTTAGGTTGTTTTGGTGCTATCTTTGGAACTGTTAGTACTCAAGTCAGAGTTAACTTGGTTGGCTTGATTGGGAGGAGAGAGAGAGTGAGAGAGAGAGAGAGAGAAAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCCCACCTAGGACAGAAAGGATTTAAGGAGATTTCTCAAAATACCTACATTACAAGATTATTTTTACATAGTGAGGAAATGCAATCAAAAGAAGAATAGAAAGAGAGAGGGGCTCAAAACAGAGTGAAGTTAGTAAGATCATGTCCTGCTGCTGCTGCTGGGCTACAATTTTATCCCTGAGCTCCTTACAGGCTATGCAACAAAGAAAGCAAAATCTGGTCTTTCATTGTTCCTAATATTAATGTATGAACCCCTTTAAAAAAAAACCGCACTGGTCAATTTTGACTTAAGACATTATTATAATTATGGAACTCTTATACCTCCAAGTATAAAATTTGGTATAAACACCATATGCACATAGTTCTTATAATTAGCACACTTGGTTTGATTATTGCTTTATAACATATTACTCCAAAAAACTTAAGGATTCAAACCACCACCATTTTATTAATACTTCTTACAGTCCTGTGGCTTGATTAAGCTGGATGGTTCTTCTGCTGGTGGTCACTGTTGGGTCTGTCATACTGTAGTGAGGTGGTAACTGGGGCTGGCACCTCCAAGTTGGATTATTCACATTTCTGGCACTATAGCAGAGATGCCTGCAAGGCCAGAACTTCTTTCTCTCTCTGTCCATGTGGATAGCTTGGGCTTCTTTACAGCACGGTGGCTGACTCAAAAAGCAAATGTTCTAAGAGGACAAGCCAACAGTATGCAAGTGCTAATTGGGCCTCTGCTTGCATTGCATCTCCTAATATCTTATTGTTCAAGCAAATCCCATGGCCAAGCTCATTGTCAGTGTGGGAGGGGACTACATAAGGGTTTGAACACTCTGTTGGGGCCCACCAGTGTTAATAGTCTACCTCAATGCTTAATATAAAACCTGTGAAATTTGAATTAGCAACATTATGTACTATGATGGAAGATGTTTTTCTGAAACTTAAACATGGTATTGTGAGTTTAGCATAATACAGGTTCCATGTGCTGTGTGATCACTCAGCTCTCCCGCCATTTTCCTCATAGTGAACAGCATTGAAACCTTCACACCTTTTTGGAATACATAGCATGAATACAGTATTTATAAGTCTTCTCTGTGCTTTTCTTATTAGCCAGCAACCAGGAAGTTTCCACCATTTGTCATTCATTTGACTCTAAACCCAATATAGGTGCAGACCCAATAATTGACTAGCAGTGCTCAGTTATGGAGTAGTCTGCCATTTGATCTAGGATATGCTTATTAATATTTAAATATAGTCAGGCATGGTAGTGCATTCCTATAGTCCCAGCTACTCAGTATGCTAAGGCAGGAGGATCATTTGAGCATAGGAGTTTGAATTCAGCCTGGGCAACATAGCAAGACCTCATCTCTAAAAACTAAATACATAAACTAATAACTTAGGAGAAACACATCCTCTTGCAGTTCTCAGACCACAGACGAAGCCCAGCAGAAGAACACCCTATGTAGATGTTGAGAATCTAATGCTAGTCTTGTCACTTTGGCTTAAAATTTGACTTATCTTTTAATATGACATCTTCCTTGTCCCCTCACCTCATAATATAGTTGAAGATGAAGCAAGGCTGTATTGTTAAAGGAGCTAATGAAAAGTGAAATTGCATGTCTGGAGATCACAGTGCTAGAAATGCAACTAGGTTAGGTGCATCTGGGCCCAAGGGGCGTGAGAGGAGGCATTTGTCATTCATTTGGCCTTTCCCCACCTTGTGCTCCTTTAGTGAGGAGAACACCCCACTGGACTTGGATGACCACGGCGGCAGAACCTTTCTCCGTGTCCTGCTCCACTTGACGATGCATGACTACCTACCCCTGGTGTCAGGGGCCCTGCAGCTCCTCTTCCGGCACTTCAGCCAGAGGCAGGAGGTGCTCCAGGCCTTCAAACAGGTAGCTCAGGTCACCCACGTGTGTGTTGTCTGTCCAAGAAGCTGTTGTGTGCACCTAACGGATTGCGTTCATTAAGGTTCAACTGCTGGTTACCAGCCAAGATGTGGACAACTACAAACAGATCAAACAAGACTTGGATCAACTGAGGTCCATCGTGGAAAAGTCAGAGCTTTGGGTGTACAAAGGGCAGGGCCCCGATGAGACTATGGATGGTGCATCTGGAGAAAATGAACATAAGAAAACGGAGGTGAGTGAAACACAAGTTATGCTGCCAAAGTGGATGGATGGGCTTCTCGAAACTAGGGAGCATCCTCTTCTGGTTTTAGGTATAAATGTGATAGGATTTATTTTCAAGAGATCTGCTTGTTAAGTCACCAAGATCACAAGCTGTTTGCCTAGGAAATAAGCTACGAATCAAAGTTTAGCTATGTCTCCTGTGCAGCCTTGGACCATGTAGAAGAGACTGCGATATTGAGTGAATTAGCACCAGGTTTCCCTTACAGACCCACTTGGGAATTGACCTGTTCTCTAGGCATGGCCCAGCCCACTACTATCCCTTCCCAAGGAAACCCATAGCAAGTAGGTAGATGACTGGGGCATAAGCCCAGCATGACTATTGTAAAACAGTATAGAACTCCCTTTCTTTCCTAAAGGTCGATGCTAACTGTAAAAAACTGACAGTAGCCCAAGAGTTGTACAGATCACACTTGTGTTCACTTTGGTTTCTAGGAGGGAAATAACAAGCCACAAAAGCATGAAAGCACCAGCAGCTACAACTACAGAGTGGTCAAAGAGGTAAGCTCCTCCCCCACCACCATTTTTCCTTTCTTTATGAATTCTCTAAGGAGCTTTAGTTTGTGATAGTCAAGTTGAAGGTACACACATTTGAGCTTTTTTCTTCATGTGGTTTAACAGGGAGAAAGTAGAGCTCAGAGGTTAAGCTCATGGGTTTTGGCATCAGATCTGGGCTCCACACCCAGCTCTTCTACTTATTATTTTTGTCCTCAGCTTCCTCACCTTTTGTAGGTGCAACCTTTCGTAGGCACCGCATATTTCTGAAGCTTTACAATTGAAGGAAGGACTAATTGAGAATACTGTCAGGGAGTCATCTAAGTGCCTGGTACACAGTGTCCCCACTGAGAGCTGTAGTTTTTTAGAAACCTTTGCGTACGCTGGTTCAAAGTTGGGAGGCTGGGAGCTTTGTGTGTTTTACCCCAGAGCAAACTCTTCCCAGGGTCTCGGCAATGATGCCAGGTCATTCCATTTTAAGCGATATCTCTGAAACTGTCCCACTTGTTGTTGAAGCCATAATCCCCTGCTTATTCTGGAAGACGTGACCTTAGTCTTATGGATTTGGCTTGATGGAGTCAACAGAAATGCCACATACTGAAGGAATTTTGTTTTACGTTTTTAATGCATTATAATCCCCTTTGCCTCCCTGCCCGCCACCACCCTCTGCAATCTTTTTCCAGCTATAGTTCCTAGTTTTCTGAGACTGATTTCTTTCATTCTACTAGATTTTGATTCGGCTTAGCAAACTCTGTGTTCAAGAGAGTGCCTCAGTGAGAAAGAGCAGGAAGCAGCAACAGCGTCTGCTCCGGAACATGGGCGCGCACGCCGTGGTGCTGGAGCTGCTGCAGATTCCCTATGAGAAGGTGAGCGGTGCCTCATGCACAGCAGCTGCTCTCAGGATGGGGCGGATCCCTGGGTTTCCCCAAACTCTTCACATCTGGATATTGTTAGTGAAGAAATGCATCCAGTGTGACTATTGTGACTACAAAGCAATTTCAGGTATTGATATGAAACAGAGCATCTGAAAAATAAAGTAAAATCACCCGTGAATAATCCTCATCCCCAGTTTTAAGATTCTGTAAAGAAAGAGAGTCCATTTATTCTCCATACTCCCAAGACATATTGGATAGAGACAACTTGGTCTGTGTCAGAGCTTAGAGCTATATCTACCCATGA
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Task1_train_5883
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A sequence alteration has been identified in ITPR1 (inositol 1,4,5-trisphosphate receptor type 1) on Chromosome 3. Is it disease-inducing or harmless?
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Pathogenic; Spinocerebellar ataxia type 29
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GCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCAGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCTGGCATGGCGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCCGAGATCACGCCGCTGCACTCCAGCCTGGGCGACAGGAGCGCAACTCTGTCTCAAAAAAACAAAAAAATCCCTACCTGTTGGGTACTCTGTTCTCTATCTGGGTGATGGGTTCGATCATACCCTAAACCTCAGCATTAAGCAATACACTTCTGCAGCAAACCTGCACGGGTACCCCCTGATTCTAAGATAAAAGTTGGAAAAAAGAAAAAAAAAAGTTGTGCTTGTTGAGGCCAAAGGAAACGTAGGAGGAAGCCCTTGCCACAGAGGTTAGTTTTTGTTTAATATTTTAGCAAGTGGTTGACTTGACTAGTAGCTCAGTGCTCATTAGAGAGGGGAAGTCTTTCCATTTGTCTTGGTGGTGATAAGACAAAAGACAAGGAGAGTTGATGTCTGTGGAACGGTAAGACATGAAAACAGCACTACCCAGAGTCCCCTCTGTGCCTCTTGGGGGTCGCTTCCTCATGACTAATACCACACCCAGAACCCACTGTGTTAGTTGTTTAGCTTATGAATATCCAAGGCATAGAGTTTCTAGCTGTGACGGGTGTACCCTGTGCATCCTGCTTTTCAATTGTTAATTATTTGTATTTTTCCAAATTTCCCACTTTCTATATTAGACTGTTAGAAAGTTGTTGGCTGGCTTATAGTTTTTTTTCCGCTAAATTGTGTGTGTGTGTATGTTTTTAAATGGGATTTAAATAATTGCTTCTCAGATTCCTCTTTCAGGATGTTGGAGTTGTTTTTACAATTAGATAGTTGAGTACTTTCTTTGCTTCTAGTGTTTTGAAGCATTGAAGACAGGAAATCATTGTTTTTTGGACATTTTCCCATATGGAAAAGAGTGATTATTAGTCTTAATTATCTTCCTTTTCAAAATCTTTTATTTTGGAATAATTTCAGGTTTATGGGACTGTAGCAAGGGTAATACAGAGAGTTCCCACAAATCCCTCACCCATTGTCACCCGTTGTCAGCATCTTACATTAGCAGGGCACCTTTGTCAAGGCTAGGAAACTGACACTGGTACAGTGCTATTACCTCAACTCCAGGCTCGATTCGAATTTCACCACTTTTCCCACTGCTGTCCCTTGTCATGCCCTTTTTCTGTTCCAGGATTTGGTCCAGGTACCACCTTGCATTTGGTTGTCATGTCTCTCCAGTCTCTTCTGGTCTGTGACCATTTCTCAGCCTTTCCTTGTTTCTTATGACCTTGACAGTCTTGACAAGTACTAGTCAGGAGTCCTGTAGAGTGTCTCCCATTATGGGTTTGACTGATGTTTGTCTCATGCTTAGACTGGAGTTCTCCTTTTTTAAGACGAAGAAAGAAGCACCTATCCAGAAAGAGGAGTTTATGCCATTGTGAATGCTACCTTTAGGATTATGTTTGGGATAACCCAGCATTTTTGTAGATTGTTGAACAAACCTGAAAAATAACTAGCAAATGATTCATTGGCCAAACGAGTTCCCTGTCTTGATTATTCTTAAAATACACACACACCTCAGTGACCCTAAGAAGCCATTCATTGAGGAAACCCATTGAACTTTAACTCTGACATGCCCTGGCCTTATGACCTGAGAGCATTTTAACATTCCTAAGAACTGCTTCCCCCCAGAATTCACACTGGGAAACCCTGACCTAAAAGATGGTAAAGTTGACTTGAGCTTCTCAGTCTTTAAGCTCAATACCAGGCAAGCTGGCCCATTCTGGGTGTGAAAAACCTGCTGGATGGGGACTAGGGCATTACGTCCATCTGTAGGGTGTCCCCCATAAAAGTTGTAGGCTCACGACTCATCTTTCTCCTGTGCAGCCAAGAGCCGGGCCATTGCCATTCCCGTGGACCTGGACAGCCAAGTCAACAACCTCTTTCTCAAGTCCCACAGCATTGTGCAGAAAACAGCCATGAACTGGCGGCTCTCAGCCCGCAATGCCGCACGCAGGGACTCTGTTCTGGCAGCTTCCAGAGACTACCGGAATATCATTGAGAGATTGCAGGTAATGCCTGGTGTTGAGAGAAGTGATGCTTAGCCTGGCCTCACGTGATTGCCACACACAGCAGTGCATCCTTGAGCCACAGAGCATCTAAGCTGGGCCGTGGGAAGATGTCGGTGTGCTGAACGAATAGTCAAATGTTATATATGTAGGGCCAGGAGTGGGAAGTTACTTAGGAATAGAAAAGTTCCTGAAAAGTGATGGTCTTTAAAGGTTACTCCTAGATTTGCAGATTTCTTGGTGAAAAATTGGGACTCTGCTCTTATTAGAAGGAAGTATTGAAGTATTACAGAGGATGTTTAGAGTAAGAGCATAAATGTTCCATTTTCCCCATCACTCTGGGGTTATTTAGCCTCTTGAATCAGCAGGTGAACAAGGGTGGTGATACCTGAGAGAAGAATTTTACATCAGAATGAGCCAGATGGAAACAAAAGTATTCCTTCCAGCTAGATTATTTACCTTTTTTCGTAGAATCTACCAAGACATCTGCTCTCCTTTTGTTAAAGGGGAGAGTAGTGAGTATTAGATGTTAAGCACTTAAACATGCATCTTAACATTAACGTATTTTTTATACAAGCACCTCAGTTGATGCTCTCACAGGTAGTACATAGGTCACAGTTTGAGAATCGCAGATCCTTTGAATGAGCCCACAAGCAGTGTTTAAGAGTGTAGTCTCAGGCCAGTGCCTGGGTTAAATTTAAATCCTGGCTCTGCCGCTTAGAAATGGTGTAATCTTGGGAAAGTTACTTGACTTCTCGGTCCTTCAGATTCCTAGTCTGTAAAACAGTAGCACCTACCTCGTGGGGTTGATGTGAGGATTAAGAGAGTTGATAATATGTCCCAGTTACCTGTATTTCGTGCAGTAAATCACAACAATTACCTTATTCTCTTTTGCTCTTCTGGAGGTTGACTGGGCTCCGCTAGCTATTTCTTGCTTAGAGTCTTTCATGGCGTTGCAGTCAGATAGTGACTGCGGTTGGACTCATCTTGACACCTTGCTCACTCGCATATTTGGCAGTTGATGCTGGTTGTCAGGTGGGACCTCAGCTGGAGTTGTCGACTGAAACATCTCCATATAGCCTGGGCTTCCTCACATCATGGCGGCTGTGTCCCAAGATGAGTGTGTGTAGAGAGAGACAAGTGAAAACTTTATTGTTGTTATGACCTAGTTTCAGAAGTCACATAGCGTCACTTTTACTGTACTCTTTTGGTCAAGGCAGTCTCAAAGGTTCACTCCAGTTCAGGGGGAGGGAATCTAGACCATCATTCAGTGAAAGGGATGTCAGTGTCACATTGTAAGAAGAATGTGAAAGACAGGATGTATTGTGGTATAGCCATCTTAGGAAAATAGAGTGCACATAAAACACATAGAGCAGTGCCTGGCATGTAGTGAGCACTCAGTTGAGGGCTGCTATTATTATTATTACTATTATTACTGTTGTTTACTGCTATGATTGTAATAGTTACTGAGTCTCTGTACAGTTACACAACCTACTTGAAGACAGATGAATTCGTTAAATCATTCATCAGCTCCATGCTAGGCTCTGGGGATACAGTGGTCAGCAAAACCAGAAATGATGATCTTTGTCTCATAGTATCTCAAGTATCAGAAGGGAGAAAGAGACATTAATTTTAAATATAAAATGGTGAGAGGGACAAGTGAGAAGTGCAGAGAAGTGAGGAGCGCTTGAAAGATTCTGATGAGGAAACTAATTTTGTCTGAGGTTAGGGATGAGGGTCAAGGAAGACCTTGCTGAGGAAAGTAACATTTTGAACCAAGATGAGAAGGAACAGCAGGACTTAAAGAATAAAAGGGAGGGAAACAGCATGTGTAAAGACCGTTATACCGAAAAGAAGATGAAAATAAAAGTATTACTCAATTCCAGCTAGAT
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GCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCAGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCTGGCATGGCGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCCGAGATCACGCCGCTGCACTCCAGCCTGGGCGACAGGAGCGCAACTCTGTCTCAAAAAAACAAAAAAATCCCTACCTGTTGGGTACTCTGTTCTCTATCTGGGTGATGGGTTCGATCATACCCTAAACCTCAGCATTAAGCAATACACTTCTGCAGCAAACCTGCACGGGTACCCCCTGATTCTAAGATAAAAGTTGGAAAAAAGAAAAAAAAAAGTTGTGCTTGTTGAGGCCAAAGGAAACGTAGGAGGAAGCCCTTGCCACAGAGGTTAGTTTTTGTTTAATATTTTAGCAAGTGGTTGACTTGACTAGTAGCTCAGTGCTCATTAGAGAGGGGAAGTCTTTCCATTTGTCTTGGTGGTGATAAGACAAAAGACAAGGAGAGTTGATGTCTGTGGAACGGTAAGACATGAAAACAGCACTACCCAGAGTCCCCTCTGTGCCTCTTGGGGGTCGCTTCCTCATGACTAATACCACACCCAGAACCCACTGTGTTAGTTGTTTAGCTTATGAATATCCAAGGCATAGAGTTTCTAGCTGTGACGGGTGTACCCTGTGCATCCTGCTTTTCAATTGTTAATTATTTGTATTTTTCCAAATTTCCCACTTTCTATATTAGACTGTTAGAAAGTTGTTGGCTGGCTTATAGTTTTTTTTCCGCTAAATTGTGTGTGTGTGTATGTTTTTAAATGGGATTTAAATAATTGCTTCTCAGATTCCTCTTTCAGGATGTTGGAGTTGTTTTTACAATTAGATAGTTGAGTACTTTCTTTGCTTCTAGTGTTTTGAAGCATTGAAGACAGGAAATCATTGTTTTTTGGACATTTTCCCATATGGAAAAGAGTGATTATTAGTCTTAATTATCTTCCTTTTCAAAATCTTTTATTTTGGAATAATTTCAGGTTTATGGGACTGTAGCAAGGGTAATACAGAGAGTTCCCACAAATCCCTCACCCATTGTCACCCGTTGTCAGCATCTTACATTAGCAGGGCACCTTTGTCAAGGCTAGGAAACTGACACTGGTACAGTGCTATTACCTCAACTCCAGGCTCGATTCGAATTTCACCACTTTTCCCACTGCTGTCCCTTGTCATGCCCTTTTTCTGTTCCAGGATTTGGTCCAGGTACCACCTTGCATTTGGTTGTCATGTCTCTCCAGTCTCTTCTGGTCTGTGACCATTTCTCAGCCTTTCCTTGTTTCTTATGACCTTGACAGTCTTGACAAGTACTAGTCAGGAGTCCTGTAGAGTGTCTCCCATTATGGGTTTGACTGATGTTTGTCTCATGCTTAGACTGGAGTTCTCCTTTTTTAAGACGAAGAAAGAAGCACCTATCCAGAAAGAGGAGTTTATGCCATTGTGAATGCTACCTTTAGGATTATGTTTGGGATAACCCAGCATTTTTGTAGATTGTTGAACAAACCTGAAAAATAACTAGCAAATGATTCATTGGCCAAACGAGTTCCCTGTCTTGATTATTCTTAAAATACACACACACCTCAGTGACCCTAAGAAGCCATTCATTGAGGAAACCCATTGAACTTTAACTCTGACATGCCCTGGCCTTATGACCTGAGAGCATTTTAACATTCCTAAGAACTGCTTCCCCCCAGAATTCACACTGGGAAACCCTGACCTAAAAGATGGTAAAGTTGACTTGAGCTTCTCAGTCTTTAAGCTCAATACCAGGCAAGCTGGCCCATTCTGGGTGTGAAAAACCTGCTGGATGGGGACTAGGGCATTACGTCCATCTGTAGGGTGTCCCCCATAAAAGTTGTAGGCTCACGACTCATCTTTCTCCTGTGCAGCCAAGAGCCGGGCCATTGCCATTCCCATGGACCTGGACAGCCAAGTCAACAACCTCTTTCTCAAGTCCCACAGCATTGTGCAGAAAACAGCCATGAACTGGCGGCTCTCAGCCCGCAATGCCGCACGCAGGGACTCTGTTCTGGCAGCTTCCAGAGACTACCGGAATATCATTGAGAGATTGCAGGTAATGCCTGGTGTTGAGAGAAGTGATGCTTAGCCTGGCCTCACGTGATTGCCACACACAGCAGTGCATCCTTGAGCCACAGAGCATCTAAGCTGGGCCGTGGGAAGATGTCGGTGTGCTGAACGAATAGTCAAATGTTATATATGTAGGGCCAGGAGTGGGAAGTTACTTAGGAATAGAAAAGTTCCTGAAAAGTGATGGTCTTTAAAGGTTACTCCTAGATTTGCAGATTTCTTGGTGAAAAATTGGGACTCTGCTCTTATTAGAAGGAAGTATTGAAGTATTACAGAGGATGTTTAGAGTAAGAGCATAAATGTTCCATTTTCCCCATCACTCTGGGGTTATTTAGCCTCTTGAATCAGCAGGTGAACAAGGGTGGTGATACCTGAGAGAAGAATTTTACATCAGAATGAGCCAGATGGAAACAAAAGTATTCCTTCCAGCTAGATTATTTACCTTTTTTCGTAGAATCTACCAAGACATCTGCTCTCCTTTTGTTAAAGGGGAGAGTAGTGAGTATTAGATGTTAAGCACTTAAACATGCATCTTAACATTAACGTATTTTTTATACAAGCACCTCAGTTGATGCTCTCACAGGTAGTACATAGGTCACAGTTTGAGAATCGCAGATCCTTTGAATGAGCCCACAAGCAGTGTTTAAGAGTGTAGTCTCAGGCCAGTGCCTGGGTTAAATTTAAATCCTGGCTCTGCCGCTTAGAAATGGTGTAATCTTGGGAAAGTTACTTGACTTCTCGGTCCTTCAGATTCCTAGTCTGTAAAACAGTAGCACCTACCTCGTGGGGTTGATGTGAGGATTAAGAGAGTTGATAATATGTCCCAGTTACCTGTATTTCGTGCAGTAAATCACAACAATTACCTTATTCTCTTTTGCTCTTCTGGAGGTTGACTGGGCTCCGCTAGCTATTTCTTGCTTAGAGTCTTTCATGGCGTTGCAGTCAGATAGTGACTGCGGTTGGACTCATCTTGACACCTTGCTCACTCGCATATTTGGCAGTTGATGCTGGTTGTCAGGTGGGACCTCAGCTGGAGTTGTCGACTGAAACATCTCCATATAGCCTGGGCTTCCTCACATCATGGCGGCTGTGTCCCAAGATGAGTGTGTGTAGAGAGAGACAAGTGAAAACTTTATTGTTGTTATGACCTAGTTTCAGAAGTCACATAGCGTCACTTTTACTGTACTCTTTTGGTCAAGGCAGTCTCAAAGGTTCACTCCAGTTCAGGGGGAGGGAATCTAGACCATCATTCAGTGAAAGGGATGTCAGTGTCACATTGTAAGAAGAATGTGAAAGACAGGATGTATTGTGGTATAGCCATCTTAGGAAAATAGAGTGCACATAAAACACATAGAGCAGTGCCTGGCATGTAGTGAGCACTCAGTTGAGGGCTGCTATTATTATTATTACTATTATTACTGTTGTTTACTGCTATGATTGTAATAGTTACTGAGTCTCTGTACAGTTACACAACCTACTTGAAGACAGATGAATTCGTTAAATCATTCATCAGCTCCATGCTAGGCTCTGGGGATACAGTGGTCAGCAAAACCAGAAATGATGATCTTTGTCTCATAGTATCTCAAGTATCAGAAGGGAGAAAGAGACATTAATTTTAAATATAAAATGGTGAGAGGGACAAGTGAGAAGTGCAGAGAAGTGAGGAGCGCTTGAAAGATTCTGATGAGGAAACTAATTTTGTCTGAGGTTAGGGATGAGGGTCAAGGAAGACCTTGCTGAGGAAAGTAACATTTTGAACCAAGATGAGAAGGAACAGCAGGACTTAAAGAATAAAAGGGAGGGAAACAGCATGTGTAAAGACCGTTATACCGAAAAGAAGATGAAAATAAAAGTATTACTCAATTCCAGCTAGAT
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Task1_train_5884
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A genomic change on Chromosome 3 affects ITPR1 (inositol 1,4,5-trisphosphate receptor type 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Neurodevelopmental disorder
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GCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCAGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCTGGCATGGCGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCCGAGATCACGCCGCTGCACTCCAGCCTGGGCGACAGGAGCGCAACTCTGTCTCAAAAAAACAAAAAAATCCCTACCTGTTGGGTACTCTGTTCTCTATCTGGGTGATGGGTTCGATCATACCCTAAACCTCAGCATTAAGCAATACACTTCTGCAGCAAACCTGCACGGGTACCCCCTGATTCTAAGATAAAAGTTGGAAAAAAGAAAAAAAAAAGTTGTGCTTGTTGAGGCCAAAGGAAACGTAGGAGGAAGCCCTTGCCACAGAGGTTAGTTTTTGTTTAATATTTTAGCAAGTGGTTGACTTGACTAGTAGCTCAGTGCTCATTAGAGAGGGGAAGTCTTTCCATTTGTCTTGGTGGTGATAAGACAAAAGACAAGGAGAGTTGATGTCTGTGGAACGGTAAGACATGAAAACAGCACTACCCAGAGTCCCCTCTGTGCCTCTTGGGGGTCGCTTCCTCATGACTAATACCACACCCAGAACCCACTGTGTTAGTTGTTTAGCTTATGAATATCCAAGGCATAGAGTTTCTAGCTGTGACGGGTGTACCCTGTGCATCCTGCTTTTCAATTGTTAATTATTTGTATTTTTCCAAATTTCCCACTTTCTATATTAGACTGTTAGAAAGTTGTTGGCTGGCTTATAGTTTTTTTTCCGCTAAATTGTGTGTGTGTGTATGTTTTTAAATGGGATTTAAATAATTGCTTCTCAGATTCCTCTTTCAGGATGTTGGAGTTGTTTTTACAATTAGATAGTTGAGTACTTTCTTTGCTTCTAGTGTTTTGAAGCATTGAAGACAGGAAATCATTGTTTTTTGGACATTTTCCCATATGGAAAAGAGTGATTATTAGTCTTAATTATCTTCCTTTTCAAAATCTTTTATTTTGGAATAATTTCAGGTTTATGGGACTGTAGCAAGGGTAATACAGAGAGTTCCCACAAATCCCTCACCCATTGTCACCCGTTGTCAGCATCTTACATTAGCAGGGCACCTTTGTCAAGGCTAGGAAACTGACACTGGTACAGTGCTATTACCTCAACTCCAGGCTCGATTCGAATTTCACCACTTTTCCCACTGCTGTCCCTTGTCATGCCCTTTTTCTGTTCCAGGATTTGGTCCAGGTACCACCTTGCATTTGGTTGTCATGTCTCTCCAGTCTCTTCTGGTCTGTGACCATTTCTCAGCCTTTCCTTGTTTCTTATGACCTTGACAGTCTTGACAAGTACTAGTCAGGAGTCCTGTAGAGTGTCTCCCATTATGGGTTTGACTGATGTTTGTCTCATGCTTAGACTGGAGTTCTCCTTTTTTAAGACGAAGAAAGAAGCACCTATCCAGAAAGAGGAGTTTATGCCATTGTGAATGCTACCTTTAGGATTATGTTTGGGATAACCCAGCATTTTTGTAGATTGTTGAACAAACCTGAAAAATAACTAGCAAATGATTCATTGGCCAAACGAGTTCCCTGTCTTGATTATTCTTAAAATACACACACACCTCAGTGACCCTAAGAAGCCATTCATTGAGGAAACCCATTGAACTTTAACTCTGACATGCCCTGGCCTTATGACCTGAGAGCATTTTAACATTCCTAAGAACTGCTTCCCCCCAGAATTCACACTGGGAAACCCTGACCTAAAAGATGGTAAAGTTGACTTGAGCTTCTCAGTCTTTAAGCTCAATACCAGGCAAGCTGGCCCATTCTGGGTGTGAAAAACCTGCTGGATGGGGACTAGGGCATTACGTCCATCTGTAGGGTGTCCCCCATAAAAGTTGTAGGCTCACGACTCATCTTTCTCCTGTGCAGCCAAGAGCCGGGCCATTGCCATTCCCGTGGACCTGGACAGCCAAGTCAACAACCTCTTTCTCAAGTCCCACAGCATTGTGCAGAAAACAGCCATGAACTGGCGGCTCTCAGCCCGCAATGCCGCACGCAGGGACTCTGTTCTGGCAGCTTCCAGAGACTACCGGAATATCATTGAGAGATTGCAGGTAATGCCTGGTGTTGAGAGAAGTGATGCTTAGCCTGGCCTCACGTGATTGCCACACACAGCAGTGCATCCTTGAGCCACAGAGCATCTAAGCTGGGCCGTGGGAAGATGTCGGTGTGCTGAACGAATAGTCAAATGTTATATATGTAGGGCCAGGAGTGGGAAGTTACTTAGGAATAGAAAAGTTCCTGAAAAGTGATGGTCTTTAAAGGTTACTCCTAGATTTGCAGATTTCTTGGTGAAAAATTGGGACTCTGCTCTTATTAGAAGGAAGTATTGAAGTATTACAGAGGATGTTTAGAGTAAGAGCATAAATGTTCCATTTTCCCCATCACTCTGGGGTTATTTAGCCTCTTGAATCAGCAGGTGAACAAGGGTGGTGATACCTGAGAGAAGAATTTTACATCAGAATGAGCCAGATGGAAACAAAAGTATTCCTTCCAGCTAGATTATTTACCTTTTTTCGTAGAATCTACCAAGACATCTGCTCTCCTTTTGTTAAAGGGGAGAGTAGTGAGTATTAGATGTTAAGCACTTAAACATGCATCTTAACATTAACGTATTTTTTATACAAGCACCTCAGTTGATGCTCTCACAGGTAGTACATAGGTCACAGTTTGAGAATCGCAGATCCTTTGAATGAGCCCACAAGCAGTGTTTAAGAGTGTAGTCTCAGGCCAGTGCCTGGGTTAAATTTAAATCCTGGCTCTGCCGCTTAGAAATGGTGTAATCTTGGGAAAGTTACTTGACTTCTCGGTCCTTCAGATTCCTAGTCTGTAAAACAGTAGCACCTACCTCGTGGGGTTGATGTGAGGATTAAGAGAGTTGATAATATGTCCCAGTTACCTGTATTTCGTGCAGTAAATCACAACAATTACCTTATTCTCTTTTGCTCTTCTGGAGGTTGACTGGGCTCCGCTAGCTATTTCTTGCTTAGAGTCTTTCATGGCGTTGCAGTCAGATAGTGACTGCGGTTGGACTCATCTTGACACCTTGCTCACTCGCATATTTGGCAGTTGATGCTGGTTGTCAGGTGGGACCTCAGCTGGAGTTGTCGACTGAAACATCTCCATATAGCCTGGGCTTCCTCACATCATGGCGGCTGTGTCCCAAGATGAGTGTGTGTAGAGAGAGACAAGTGAAAACTTTATTGTTGTTATGACCTAGTTTCAGAAGTCACATAGCGTCACTTTTACTGTACTCTTTTGGTCAAGGCAGTCTCAAAGGTTCACTCCAGTTCAGGGGGAGGGAATCTAGACCATCATTCAGTGAAAGGGATGTCAGTGTCACATTGTAAGAAGAATGTGAAAGACAGGATGTATTGTGGTATAGCCATCTTAGGAAAATAGAGTGCACATAAAACACATAGAGCAGTGCCTGGCATGTAGTGAGCACTCAGTTGAGGGCTGCTATTATTATTATTACTATTATTACTGTTGTTTACTGCTATGATTGTAATAGTTACTGAGTCTCTGTACAGTTACACAACCTACTTGAAGACAGATGAATTCGTTAAATCATTCATCAGCTCCATGCTAGGCTCTGGGGATACAGTGGTCAGCAAAACCAGAAATGATGATCTTTGTCTCATAGTATCTCAAGTATCAGAAGGGAGAAAGAGACATTAATTTTAAATATAAAATGGTGAGAGGGACAAGTGAGAAGTGCAGAGAAGTGAGGAGCGCTTGAAAGATTCTGATGAGGAAACTAATTTTGTCTGAGGTTAGGGATGAGGGTCAAGGAAGACCTTGCTGAGGAAAGTAACATTTTGAACCAAGATGAGAAGGAACAGCAGGACTTAAAGAATAAAAGGGAGGGAAACAGCATGTGTAAAGACCGTTATACCGAAAAGAAGATGAAAATAAAAGTATTACTCAATTCCAGCTAGAT
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GCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCAGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCTGGCATGGCGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCCGAGATCACGCCGCTGCACTCCAGCCTGGGCGACAGGAGCGCAACTCTGTCTCAAAAAAACAAAAAAATCCCTACCTGTTGGGTACTCTGTTCTCTATCTGGGTGATGGGTTCGATCATACCCTAAACCTCAGCATTAAGCAATACACTTCTGCAGCAAACCTGCACGGGTACCCCCTGATTCTAAGATAAAAGTTGGAAAAAAGAAAAAAAAAAGTTGTGCTTGTTGAGGCCAAAGGAAACGTAGGAGGAAGCCCTTGCCACAGAGGTTAGTTTTTGTTTAATATTTTAGCAAGTGGTTGACTTGACTAGTAGCTCAGTGCTCATTAGAGAGGGGAAGTCTTTCCATTTGTCTTGGTGGTGATAAGACAAAAGACAAGGAGAGTTGATGTCTGTGGAACGGTAAGACATGAAAACAGCACTACCCAGAGTCCCCTCTGTGCCTCTTGGGGGTCGCTTCCTCATGACTAATACCACACCCAGAACCCACTGTGTTAGTTGTTTAGCTTATGAATATCCAAGGCATAGAGTTTCTAGCTGTGACGGGTGTACCCTGTGCATCCTGCTTTTCAATTGTTAATTATTTGTATTTTTCCAAATTTCCCACTTTCTATATTAGACTGTTAGAAAGTTGTTGGCTGGCTTATAGTTTTTTTTCCGCTAAATTGTGTGTGTGTGTATGTTTTTAAATGGGATTTAAATAATTGCTTCTCAGATTCCTCTTTCAGGATGTTGGAGTTGTTTTTACAATTAGATAGTTGAGTACTTTCTTTGCTTCTAGTGTTTTGAAGCATTGAAGACAGGAAATCATTGTTTTTTGGACATTTTCCCATATGGAAAAGAGTGATTATTAGTCTTAATTATCTTCCTTTTCAAAATCTTTTATTTTGGAATAATTTCAGGTTTATGGGACTGTAGCAAGGGTAATACAGAGAGTTCCCACAAATCCCTCACCCATTGTCACCCGTTGTCAGCATCTTACATTAGCAGGGCACCTTTGTCAAGGCTAGGAAACTGACACTGGTACAGTGCTATTACCTCAACTCCAGGCTCGATTCGAATTTCACCACTTTTCCCACTGCTGTCCCTTGTCATGCCCTTTTTCTGTTCCAGGATTTGGTCCAGGTACCACCTTGCATTTGGTTGTCATGTCTCTCCAGTCTCTTCTGGTCTGTGACCATTTCTCAGCCTTTCCTTGTTTCTTATGACCTTGACAGTCTTGACAAGTACTAGTCAGGAGTCCTGTAGAGTGTCTCCCATTATGGGTTTGACTGATGTTTGTCTCATGCTTAGACTGGAGTTCTCCTTTTTTAAGACGAAGAAAGAAGCACCTATCCAGAAAGAGGAGTTTATGCCATTGTGAATGCTACCTTTAGGATTATGTTTGGGATAACCCAGCATTTTTGTAGATTGTTGAACAAACCTGAAAAATAACTAGCAAATGATTCATTGGCCAAACGAGTTCCCTGTCTTGATTATTCTTAAAATACACACACACCTCAGTGACCCTAAGAAGCCATTCATTGAGGAAACCCATTGAACTTTAACTCTGACATGCCCTGGCCTTATGACCTGAGAGCATTTTAACATTCCTAAGAACTGCTTCCCCCCAGAATTCACACTGGGAAACCCTGACCTAAAAGATGGTAAAGTTGACTTGAGCTTCTCAGTCTTTAAGCTCAATACCAGGCAAGCTGGCCCATTCTGGGTGTGAAAAACCTGCTGGATGGGGACTAGGGCATTACGTCCATCTGTAGGGTGTCCCCCATAAAAGTTGTAGGCTCACGACTCATCTTTCTCCTGTGCAGCCAAGAGCCGGGCCATTGCCATTCCCATGGACCTGGACAGCCAAGTCAACAACCTCTTTCTCAAGTCCCACAGCATTGTGCAGAAAACAGCCATGAACTGGCGGCTCTCAGCCCGCAATGCCGCACGCAGGGACTCTGTTCTGGCAGCTTCCAGAGACTACCGGAATATCATTGAGAGATTGCAGGTAATGCCTGGTGTTGAGAGAAGTGATGCTTAGCCTGGCCTCACGTGATTGCCACACACAGCAGTGCATCCTTGAGCCACAGAGCATCTAAGCTGGGCCGTGGGAAGATGTCGGTGTGCTGAACGAATAGTCAAATGTTATATATGTAGGGCCAGGAGTGGGAAGTTACTTAGGAATAGAAAAGTTCCTGAAAAGTGATGGTCTTTAAAGGTTACTCCTAGATTTGCAGATTTCTTGGTGAAAAATTGGGACTCTGCTCTTATTAGAAGGAAGTATTGAAGTATTACAGAGGATGTTTAGAGTAAGAGCATAAATGTTCCATTTTCCCCATCACTCTGGGGTTATTTAGCCTCTTGAATCAGCAGGTGAACAAGGGTGGTGATACCTGAGAGAAGAATTTTACATCAGAATGAGCCAGATGGAAACAAAAGTATTCCTTCCAGCTAGATTATTTACCTTTTTTCGTAGAATCTACCAAGACATCTGCTCTCCTTTTGTTAAAGGGGAGAGTAGTGAGTATTAGATGTTAAGCACTTAAACATGCATCTTAACATTAACGTATTTTTTATACAAGCACCTCAGTTGATGCTCTCACAGGTAGTACATAGGTCACAGTTTGAGAATCGCAGATCCTTTGAATGAGCCCACAAGCAGTGTTTAAGAGTGTAGTCTCAGGCCAGTGCCTGGGTTAAATTTAAATCCTGGCTCTGCCGCTTAGAAATGGTGTAATCTTGGGAAAGTTACTTGACTTCTCGGTCCTTCAGATTCCTAGTCTGTAAAACAGTAGCACCTACCTCGTGGGGTTGATGTGAGGATTAAGAGAGTTGATAATATGTCCCAGTTACCTGTATTTCGTGCAGTAAATCACAACAATTACCTTATTCTCTTTTGCTCTTCTGGAGGTTGACTGGGCTCCGCTAGCTATTTCTTGCTTAGAGTCTTTCATGGCGTTGCAGTCAGATAGTGACTGCGGTTGGACTCATCTTGACACCTTGCTCACTCGCATATTTGGCAGTTGATGCTGGTTGTCAGGTGGGACCTCAGCTGGAGTTGTCGACTGAAACATCTCCATATAGCCTGGGCTTCCTCACATCATGGCGGCTGTGTCCCAAGATGAGTGTGTGTAGAGAGAGACAAGTGAAAACTTTATTGTTGTTATGACCTAGTTTCAGAAGTCACATAGCGTCACTTTTACTGTACTCTTTTGGTCAAGGCAGTCTCAAAGGTTCACTCCAGTTCAGGGGGAGGGAATCTAGACCATCATTCAGTGAAAGGGATGTCAGTGTCACATTGTAAGAAGAATGTGAAAGACAGGATGTATTGTGGTATAGCCATCTTAGGAAAATAGAGTGCACATAAAACACATAGAGCAGTGCCTGGCATGTAGTGAGCACTCAGTTGAGGGCTGCTATTATTATTATTACTATTATTACTGTTGTTTACTGCTATGATTGTAATAGTTACTGAGTCTCTGTACAGTTACACAACCTACTTGAAGACAGATGAATTCGTTAAATCATTCATCAGCTCCATGCTAGGCTCTGGGGATACAGTGGTCAGCAAAACCAGAAATGATGATCTTTGTCTCATAGTATCTCAAGTATCAGAAGGGAGAAAGAGACATTAATTTTAAATATAAAATGGTGAGAGGGACAAGTGAGAAGTGCAGAGAAGTGAGGAGCGCTTGAAAGATTCTGATGAGGAAACTAATTTTGTCTGAGGTTAGGGATGAGGGTCAAGGAAGACCTTGCTGAGGAAAGTAACATTTTGAACCAAGATGAGAAGGAACAGCAGGACTTAAAGAATAAAAGGGAGGGAAACAGCATGTGTAAAGACCGTTATACCGAAAAGAAGATGAAAATAAAAGTATTACTCAATTCCAGCTAGAT
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Task1_train_5885
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This mutation occurs in ITPR1 (inositol 1,4,5-trisphosphate receptor type 1) on Chromosome 3. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Inborn genetic diseases
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GCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCAGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCTGGCATGGCGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCCGAGATCACGCCGCTGCACTCCAGCCTGGGCGACAGGAGCGCAACTCTGTCTCAAAAAAACAAAAAAATCCCTACCTGTTGGGTACTCTGTTCTCTATCTGGGTGATGGGTTCGATCATACCCTAAACCTCAGCATTAAGCAATACACTTCTGCAGCAAACCTGCACGGGTACCCCCTGATTCTAAGATAAAAGTTGGAAAAAAGAAAAAAAAAAGTTGTGCTTGTTGAGGCCAAAGGAAACGTAGGAGGAAGCCCTTGCCACAGAGGTTAGTTTTTGTTTAATATTTTAGCAAGTGGTTGACTTGACTAGTAGCTCAGTGCTCATTAGAGAGGGGAAGTCTTTCCATTTGTCTTGGTGGTGATAAGACAAAAGACAAGGAGAGTTGATGTCTGTGGAACGGTAAGACATGAAAACAGCACTACCCAGAGTCCCCTCTGTGCCTCTTGGGGGTCGCTTCCTCATGACTAATACCACACCCAGAACCCACTGTGTTAGTTGTTTAGCTTATGAATATCCAAGGCATAGAGTTTCTAGCTGTGACGGGTGTACCCTGTGCATCCTGCTTTTCAATTGTTAATTATTTGTATTTTTCCAAATTTCCCACTTTCTATATTAGACTGTTAGAAAGTTGTTGGCTGGCTTATAGTTTTTTTTCCGCTAAATTGTGTGTGTGTGTATGTTTTTAAATGGGATTTAAATAATTGCTTCTCAGATTCCTCTTTCAGGATGTTGGAGTTGTTTTTACAATTAGATAGTTGAGTACTTTCTTTGCTTCTAGTGTTTTGAAGCATTGAAGACAGGAAATCATTGTTTTTTGGACATTTTCCCATATGGAAAAGAGTGATTATTAGTCTTAATTATCTTCCTTTTCAAAATCTTTTATTTTGGAATAATTTCAGGTTTATGGGACTGTAGCAAGGGTAATACAGAGAGTTCCCACAAATCCCTCACCCATTGTCACCCGTTGTCAGCATCTTACATTAGCAGGGCACCTTTGTCAAGGCTAGGAAACTGACACTGGTACAGTGCTATTACCTCAACTCCAGGCTCGATTCGAATTTCACCACTTTTCCCACTGCTGTCCCTTGTCATGCCCTTTTTCTGTTCCAGGATTTGGTCCAGGTACCACCTTGCATTTGGTTGTCATGTCTCTCCAGTCTCTTCTGGTCTGTGACCATTTCTCAGCCTTTCCTTGTTTCTTATGACCTTGACAGTCTTGACAAGTACTAGTCAGGAGTCCTGTAGAGTGTCTCCCATTATGGGTTTGACTGATGTTTGTCTCATGCTTAGACTGGAGTTCTCCTTTTTTAAGACGAAGAAAGAAGCACCTATCCAGAAAGAGGAGTTTATGCCATTGTGAATGCTACCTTTAGGATTATGTTTGGGATAACCCAGCATTTTTGTAGATTGTTGAACAAACCTGAAAAATAACTAGCAAATGATTCATTGGCCAAACGAGTTCCCTGTCTTGATTATTCTTAAAATACACACACACCTCAGTGACCCTAAGAAGCCATTCATTGAGGAAACCCATTGAACTTTAACTCTGACATGCCCTGGCCTTATGACCTGAGAGCATTTTAACATTCCTAAGAACTGCTTCCCCCCAGAATTCACACTGGGAAACCCTGACCTAAAAGATGGTAAAGTTGACTTGAGCTTCTCAGTCTTTAAGCTCAATACCAGGCAAGCTGGCCCATTCTGGGTGTGAAAAACCTGCTGGATGGGGACTAGGGCATTACGTCCATCTGTAGGGTGTCCCCCATAAAAGTTGTAGGCTCACGACTCATCTTTCTCCTGTGCAGCCAAGAGCCGGGCCATTGCCATTCCCGTGGACCTGGACAGCCAAGTCAACAACCTCTTTCTCAAGTCCCACAGCATTGTGCAGAAAACAGCCATGAACTGGCGGCTCTCAGCCCGCAATGCCGCACGCAGGGACTCTGTTCTGGCAGCTTCCAGAGACTACCGGAATATCATTGAGAGATTGCAGGTAATGCCTGGTGTTGAGAGAAGTGATGCTTAGCCTGGCCTCACGTGATTGCCACACACAGCAGTGCATCCTTGAGCCACAGAGCATCTAAGCTGGGCCGTGGGAAGATGTCGGTGTGCTGAACGAATAGTCAAATGTTATATATGTAGGGCCAGGAGTGGGAAGTTACTTAGGAATAGAAAAGTTCCTGAAAAGTGATGGTCTTTAAAGGTTACTCCTAGATTTGCAGATTTCTTGGTGAAAAATTGGGACTCTGCTCTTATTAGAAGGAAGTATTGAAGTATTACAGAGGATGTTTAGAGTAAGAGCATAAATGTTCCATTTTCCCCATCACTCTGGGGTTATTTAGCCTCTTGAATCAGCAGGTGAACAAGGGTGGTGATACCTGAGAGAAGAATTTTACATCAGAATGAGCCAGATGGAAACAAAAGTATTCCTTCCAGCTAGATTATTTACCTTTTTTCGTAGAATCTACCAAGACATCTGCTCTCCTTTTGTTAAAGGGGAGAGTAGTGAGTATTAGATGTTAAGCACTTAAACATGCATCTTAACATTAACGTATTTTTTATACAAGCACCTCAGTTGATGCTCTCACAGGTAGTACATAGGTCACAGTTTGAGAATCGCAGATCCTTTGAATGAGCCCACAAGCAGTGTTTAAGAGTGTAGTCTCAGGCCAGTGCCTGGGTTAAATTTAAATCCTGGCTCTGCCGCTTAGAAATGGTGTAATCTTGGGAAAGTTACTTGACTTCTCGGTCCTTCAGATTCCTAGTCTGTAAAACAGTAGCACCTACCTCGTGGGGTTGATGTGAGGATTAAGAGAGTTGATAATATGTCCCAGTTACCTGTATTTCGTGCAGTAAATCACAACAATTACCTTATTCTCTTTTGCTCTTCTGGAGGTTGACTGGGCTCCGCTAGCTATTTCTTGCTTAGAGTCTTTCATGGCGTTGCAGTCAGATAGTGACTGCGGTTGGACTCATCTTGACACCTTGCTCACTCGCATATTTGGCAGTTGATGCTGGTTGTCAGGTGGGACCTCAGCTGGAGTTGTCGACTGAAACATCTCCATATAGCCTGGGCTTCCTCACATCATGGCGGCTGTGTCCCAAGATGAGTGTGTGTAGAGAGAGACAAGTGAAAACTTTATTGTTGTTATGACCTAGTTTCAGAAGTCACATAGCGTCACTTTTACTGTACTCTTTTGGTCAAGGCAGTCTCAAAGGTTCACTCCAGTTCAGGGGGAGGGAATCTAGACCATCATTCAGTGAAAGGGATGTCAGTGTCACATTGTAAGAAGAATGTGAAAGACAGGATGTATTGTGGTATAGCCATCTTAGGAAAATAGAGTGCACATAAAACACATAGAGCAGTGCCTGGCATGTAGTGAGCACTCAGTTGAGGGCTGCTATTATTATTATTACTATTATTACTGTTGTTTACTGCTATGATTGTAATAGTTACTGAGTCTCTGTACAGTTACACAACCTACTTGAAGACAGATGAATTCGTTAAATCATTCATCAGCTCCATGCTAGGCTCTGGGGATACAGTGGTCAGCAAAACCAGAAATGATGATCTTTGTCTCATAGTATCTCAAGTATCAGAAGGGAGAAAGAGACATTAATTTTAAATATAAAATGGTGAGAGGGACAAGTGAGAAGTGCAGAGAAGTGAGGAGCGCTTGAAAGATTCTGATGAGGAAACTAATTTTGTCTGAGGTTAGGGATGAGGGTCAAGGAAGACCTTGCTGAGGAAAGTAACATTTTGAACCAAGATGAGAAGGAACAGCAGGACTTAAAGAATAAAAGGGAGGGAAACAGCATGTGTAAAGACCGTTATACCGAAAAGAAGATGAAAATAAAAGTATTACTCAATTCCAGCTAGAT
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GCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCAGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCTGGCATGGCGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCCGAGATCACGCCGCTGCACTCCAGCCTGGGCGACAGGAGCGCAACTCTGTCTCAAAAAAACAAAAAAATCCCTACCTGTTGGGTACTCTGTTCTCTATCTGGGTGATGGGTTCGATCATACCCTAAACCTCAGCATTAAGCAATACACTTCTGCAGCAAACCTGCACGGGTACCCCCTGATTCTAAGATAAAAGTTGGAAAAAAGAAAAAAAAAAGTTGTGCTTGTTGAGGCCAAAGGAAACGTAGGAGGAAGCCCTTGCCACAGAGGTTAGTTTTTGTTTAATATTTTAGCAAGTGGTTGACTTGACTAGTAGCTCAGTGCTCATTAGAGAGGGGAAGTCTTTCCATTTGTCTTGGTGGTGATAAGACAAAAGACAAGGAGAGTTGATGTCTGTGGAACGGTAAGACATGAAAACAGCACTACCCAGAGTCCCCTCTGTGCCTCTTGGGGGTCGCTTCCTCATGACTAATACCACACCCAGAACCCACTGTGTTAGTTGTTTAGCTTATGAATATCCAAGGCATAGAGTTTCTAGCTGTGACGGGTGTACCCTGTGCATCCTGCTTTTCAATTGTTAATTATTTGTATTTTTCCAAATTTCCCACTTTCTATATTAGACTGTTAGAAAGTTGTTGGCTGGCTTATAGTTTTTTTTCCGCTAAATTGTGTGTGTGTGTATGTTTTTAAATGGGATTTAAATAATTGCTTCTCAGATTCCTCTTTCAGGATGTTGGAGTTGTTTTTACAATTAGATAGTTGAGTACTTTCTTTGCTTCTAGTGTTTTGAAGCATTGAAGACAGGAAATCATTGTTTTTTGGACATTTTCCCATATGGAAAAGAGTGATTATTAGTCTTAATTATCTTCCTTTTCAAAATCTTTTATTTTGGAATAATTTCAGGTTTATGGGACTGTAGCAAGGGTAATACAGAGAGTTCCCACAAATCCCTCACCCATTGTCACCCGTTGTCAGCATCTTACATTAGCAGGGCACCTTTGTCAAGGCTAGGAAACTGACACTGGTACAGTGCTATTACCTCAACTCCAGGCTCGATTCGAATTTCACCACTTTTCCCACTGCTGTCCCTTGTCATGCCCTTTTTCTGTTCCAGGATTTGGTCCAGGTACCACCTTGCATTTGGTTGTCATGTCTCTCCAGTCTCTTCTGGTCTGTGACCATTTCTCAGCCTTTCCTTGTTTCTTATGACCTTGACAGTCTTGACAAGTACTAGTCAGGAGTCCTGTAGAGTGTCTCCCATTATGGGTTTGACTGATGTTTGTCTCATGCTTAGACTGGAGTTCTCCTTTTTTAAGACGAAGAAAGAAGCACCTATCCAGAAAGAGGAGTTTATGCCATTGTGAATGCTACCTTTAGGATTATGTTTGGGATAACCCAGCATTTTTGTAGATTGTTGAACAAACCTGAAAAATAACTAGCAAATGATTCATTGGCCAAACGAGTTCCCTGTCTTGATTATTCTTAAAATACACACACACCTCAGTGACCCTAAGAAGCCATTCATTGAGGAAACCCATTGAACTTTAACTCTGACATGCCCTGGCCTTATGACCTGAGAGCATTTTAACATTCCTAAGAACTGCTTCCCCCCAGAATTCACACTGGGAAACCCTGACCTAAAAGATGGTAAAGTTGACTTGAGCTTCTCAGTCTTTAAGCTCAATACCAGGCAAGCTGGCCCATTCTGGGTGTGAAAAACCTGCTGGATGGGGACTAGGGCATTACGTCCATCTGTAGGGTGTCCCCCATAAAAGTTGTAGGCTCACGACTCATCTTTCTCCTGTGCAGCCAAGAGCCGGGCCATTGCCATTCCCATGGACCTGGACAGCCAAGTCAACAACCTCTTTCTCAAGTCCCACAGCATTGTGCAGAAAACAGCCATGAACTGGCGGCTCTCAGCCCGCAATGCCGCACGCAGGGACTCTGTTCTGGCAGCTTCCAGAGACTACCGGAATATCATTGAGAGATTGCAGGTAATGCCTGGTGTTGAGAGAAGTGATGCTTAGCCTGGCCTCACGTGATTGCCACACACAGCAGTGCATCCTTGAGCCACAGAGCATCTAAGCTGGGCCGTGGGAAGATGTCGGTGTGCTGAACGAATAGTCAAATGTTATATATGTAGGGCCAGGAGTGGGAAGTTACTTAGGAATAGAAAAGTTCCTGAAAAGTGATGGTCTTTAAAGGTTACTCCTAGATTTGCAGATTTCTTGGTGAAAAATTGGGACTCTGCTCTTATTAGAAGGAAGTATTGAAGTATTACAGAGGATGTTTAGAGTAAGAGCATAAATGTTCCATTTTCCCCATCACTCTGGGGTTATTTAGCCTCTTGAATCAGCAGGTGAACAAGGGTGGTGATACCTGAGAGAAGAATTTTACATCAGAATGAGCCAGATGGAAACAAAAGTATTCCTTCCAGCTAGATTATTTACCTTTTTTCGTAGAATCTACCAAGACATCTGCTCTCCTTTTGTTAAAGGGGAGAGTAGTGAGTATTAGATGTTAAGCACTTAAACATGCATCTTAACATTAACGTATTTTTTATACAAGCACCTCAGTTGATGCTCTCACAGGTAGTACATAGGTCACAGTTTGAGAATCGCAGATCCTTTGAATGAGCCCACAAGCAGTGTTTAAGAGTGTAGTCTCAGGCCAGTGCCTGGGTTAAATTTAAATCCTGGCTCTGCCGCTTAGAAATGGTGTAATCTTGGGAAAGTTACTTGACTTCTCGGTCCTTCAGATTCCTAGTCTGTAAAACAGTAGCACCTACCTCGTGGGGTTGATGTGAGGATTAAGAGAGTTGATAATATGTCCCAGTTACCTGTATTTCGTGCAGTAAATCACAACAATTACCTTATTCTCTTTTGCTCTTCTGGAGGTTGACTGGGCTCCGCTAGCTATTTCTTGCTTAGAGTCTTTCATGGCGTTGCAGTCAGATAGTGACTGCGGTTGGACTCATCTTGACACCTTGCTCACTCGCATATTTGGCAGTTGATGCTGGTTGTCAGGTGGGACCTCAGCTGGAGTTGTCGACTGAAACATCTCCATATAGCCTGGGCTTCCTCACATCATGGCGGCTGTGTCCCAAGATGAGTGTGTGTAGAGAGAGACAAGTGAAAACTTTATTGTTGTTATGACCTAGTTTCAGAAGTCACATAGCGTCACTTTTACTGTACTCTTTTGGTCAAGGCAGTCTCAAAGGTTCACTCCAGTTCAGGGGGAGGGAATCTAGACCATCATTCAGTGAAAGGGATGTCAGTGTCACATTGTAAGAAGAATGTGAAAGACAGGATGTATTGTGGTATAGCCATCTTAGGAAAATAGAGTGCACATAAAACACATAGAGCAGTGCCTGGCATGTAGTGAGCACTCAGTTGAGGGCTGCTATTATTATTATTACTATTATTACTGTTGTTTACTGCTATGATTGTAATAGTTACTGAGTCTCTGTACAGTTACACAACCTACTTGAAGACAGATGAATTCGTTAAATCATTCATCAGCTCCATGCTAGGCTCTGGGGATACAGTGGTCAGCAAAACCAGAAATGATGATCTTTGTCTCATAGTATCTCAAGTATCAGAAGGGAGAAAGAGACATTAATTTTAAATATAAAATGGTGAGAGGGACAAGTGAGAAGTGCAGAGAAGTGAGGAGCGCTTGAAAGATTCTGATGAGGAAACTAATTTTGTCTGAGGTTAGGGATGAGGGTCAAGGAAGACCTTGCTGAGGAAAGTAACATTTTGAACCAAGATGAGAAGGAACAGCAGGACTTAAAGAATAAAAGGGAGGGAAACAGCATGTGTAAAGACCGTTATACCGAAAAGAAGATGAAAATAAAAGTATTACTCAATTCCAGCTAGAT
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Task1_train_5886
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An alteration has been detected in ITPR1 (inositol 1,4,5-trisphosphate receptor type 1) on Chromosome 3. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; not provided
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ATGTTTGTATGACTTTATTATGTGAATAATTCATGCTCATTGAAAATAAACAACACTGACAAGTATTTCTATATAGAAGAAAATCAGAATCACCTGTAATCCCACCACCCAGAGAAAACCAGTAGTAATGTTTTAATATTTGATGTTTATCCTTTAGCTAGATATTGATGATGTTTATAAAAATAGGATTATTATTGTTTGACCTTTGTTATGCCCATGTCATAGACATCTTTCCATGTTGTTAAATTGATTTTTTGCGTCATATTTTAAGCTACATGCAGTGGTACCTTGAGTAGCATAAGGGCCACCTTGAAAGAAGGGGTGGTGGGAAAGTTGACTTGTTTTCACTTTGTTTTCTGCATCAGAGGCTAATGTTTCAGGTAACCATTGGGCAATGTCTAATAATTTGAGATGCCAGACGGTACTAAAGTTACTCTAACCTAGCCTACCCGTGCATCAGTGTTTTAGGGCAGAAATCAATGTCCTCACCCTCCTGTGGTCAGCGTCTGCCTGAGCCGTTGACTGAGGCTGTGTTTCCGTTTTAGGACATCGTCTCCGCGCTGGAGGACCGTCTCAGGCCCCTGGTGCAGGCAGAGTTATCTGTGCTCGTGGATGTTCTCCACAGACCCGAGCTGCTTTTCCCAGAGAACACAGACGCCAGAAGGAAATGTGAAAGTGGCGGTTTCATTTGCAAGTAAGCGGCCTCTCTCTCTGGGGTGTTCATTTGCCAGAACCTTGATGACCTCACAAAGCTTTTGTTCCCGAAGAAGGAGACGTTGTCCTGTTTTTTAACTTTGATGAATGCAAGGTCATGTGCTAAAGTCCTGTTCTGACCTCCCCAAAGTAAGTTTGTCTATTAAATCCTGCTTACTGACACTTTTTTGTTTTGTTTTGTTTTGCTTTGTTTTTTGGTGAGAAGTTCTTATTTTCACTGCATGCCCATTCATTCATTCATTACAGTGCACCCACCGTGTGCTGTGGTACAGACATAAAAAAGCCATGATCCCTCAGCCCTCAGAAATCTCAGATCTATCGTGACCTCACCATCTTTTCCTAATAATTTTGTAATTTCTTAGTTTATGCCTTGTGCGTAATCTGTAAGCAACAAGCAGACCCATGGTTAGAAATCTCCATTAGATTTTTGCCCCAAGGCCGGACACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGGGGCTGGTGAATCACCTGAGGTCAGGGGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTATCTTGACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCTCCTGTAATCCCAGCTACTCTGTGGCTGAGGCAGGGGAATCACTTGAACCCAGGAAGCAGAGGCTACAGTGAGCCAAGATCGCGCTACTGCACTCCAGCCTGGGTGGCAGAACGAGACCTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGATTTTTACCCTAAGATTAGTTGTTTGTTTAGCTTGGGGCTGGACTCTGCATGTGAGTTTCTTACTTTTCTGGGCCCCTCTAAGGACAAGCTTGTGCATAAGGGAACTGTGTGTATTGGCCTCAACCATCATCCTCATGAGTTGTTTTTGTTTTACAGTGTTGGCATATTTGACCCATTTTACTGGCAATTCTCAGTGGATAAATAGCCACGCTTTATAAACGAGCAGGTCTGAGTGGACCTCTGTCTCGGTTCTCCTCTCCATATAATCTCTCCATTGTATGTGGCTGACTCCTGCCCAGTGAGCCTGTTTGCTGTGATTTACCAGCAGGTGTCACTATTGAGACACAGTTGCTAACTGGCTGTTCTCAGTGCAGGGAATGCCCTGAAGTATCTTTAACCTGAGAGCTCTTAATAAATATTTGTTCATTAACGGACTAGTTAAAATAAATTGCTTGTGAAGTCTTTTTAATTTAAAATTAGCTTCAAGGAAGTAATCCGTGGTTTTCCCCCCATTCAGGTTAATAAAGCATACAAAACAGCTGCTAGAAGAAAATGAAGAGAAGCTCTGCATTAAGGTCCTACAGACCCTGAGGGAAATGATGACCAAAGATAGAGGCTATGGAGAAAAGGTACTGCATTTTATTTTCATGGTCAAACCAGGTTTTACTATGAAACTGAAGGGAGGGACCTTTCAAAACCCACCTTAGCTCAGGCATTACTGACTGAGGGGCTAGCTTTTTTTAAAAGAAAGAAAGAAAGAAAGAAAAAGCTGTTTATCCTGCCGTTAAAGGGAGCTAAATCATATGACTGTCTTTTTTAAAAGTCAAATATACTTAGTCGTCTCTTATAGGCTGATTGCCACATAATCTAATGTCAGAGAAGTGGTAATAACAAGATTTTCCATCTATTTAAATTCCCAGTGAGGAGCAAATGCCTCTTTTGTATCAAAGTATGCGTTTCTGATTTTTAGGTTTCAGCCAAGCATACCTGTGGGTTTACTTGCCTCGTTCAGATGAGCTGTTGCGCAATCCTTTCAGTGCATCAAGAAACGCCCTCCACTTCTAACTGCAATTAAGGCAGGCATACACGTCACCACTTCTGAGGGAGATTGGGAAATGGACAGTCCCGTGACCTGATTGTTCTTAGTATATGCAGTGAACAAGGATATACCAGATCCATTCCTTACACCTCTGATGTTGGGTAGAGCAGGACAGAAACAATGTCATTCCCTTTCCTTTCAGCCCCCAGCAACAAATGATGGGCGTGAATTGAAATCTCACTCATTTTCATTTGAAGGTAATAATGTTCAGTAACGGTCAGCTAGCTACATTTAGCAACAATTTCTGAGTAGGTGAATATGCTGATATCACTGACTTATCAAAATACCCAGTAAGTCATTTTTCAGCTCTAGGAAGAAGCCTTGATAATTAAATCAGCCTGCCTTGTCAAAATCGATGGTGGCAACCAGATTGTCACAAGTATAAATGTCTGCAGGAATGTTGCTTTCTAACCTATCTGTCATTAATATTAGAGCAATGTTACTAGTGAGACTCCTTGGATAAGAAAACAGAAAACGGATTTTGCAGTTTCTTAGTTTATACCACGGGGCATAATCTGTAAGCAACAAGAGTTCCATGACTAGAAATGTCCATTACATTTTTTAGAAACTAATTAGAACATAGGTTTCTGTAACTCAGTAGGAATTTTGCAGAGAAAACCTGCCAGACAAGAGTTTATAAATATAAATGATGGAAGTGAAGACCCCTGGCAAGGTGAGAAGTGCTGGGATGGCCTGTTCATACCTGTATAGGCACCTAGTAGATCTCTTAAAAACAAGAAAAGAAAAAAGGTGGGGGGTACGGGGGAAGGCTGATGGCAGAGAATACACTTACCAGACAAATAAATATTAACCATTTATTTCACAAGATCTTCATTTCTCTTAAAGTGAGTTTTCAGAAACATTTATAAAATATGAATCTAGTTACAGAAACTTGCTCTCCATAAAAAAGGTTAAATCCACCAAAGCTGAGTGAATATTTTTGCATCCATGGGCATAAAACCTGATTTTTCAAATCTGGAGACCACAATTTTCTCTTATTTGGAATATCTATTTCTTTCCATAACCGAGGTATTTAAAGTAAACTTCGGTGCCTCTATTCTAGTGACTTACAAGTTGTGATTATACATGCAGTTCCCTGCAGTTGTCTTTTTATAACCTGGAACGTAGAAGCATTGTCCTGGAGTTTCCTGAGTCTCTATTGCCTGGCGGACAAGTATGTCAGGGTCTTTGAGGCTATGTGGAAGGTGTGCTGCCCTGCTCCCTGCCCCTACCCATTAGTGCCAACTGGGAGAGCATCCCAGACCCCAGGGGATGCCGCATGAGAAATGTCGTAATGCATGTTATAAAGCTCATGGAGAAAGAAAGGGCATAGGGTTGAGAGGACCCTCAAAGGAGATCACTTGGAAAGAGTAAATTATATCACAGTTTTGTAGAGGTTCCTGGGGTCTAGCTTAAATCCTTTTCAGCTGGTGAAGAAATCAGTCACACCTAAGCAGAGAGGCTTGGAGAAGAGATGGCCTTTCTTTCCAGTCTGGTTAGGGCTGTCATTCCCATCCATGAATGTGAACAAACTATA
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ATGTTTGTATGACTTTATTATGTGAATAATTCATGCTCATTGAAAATAAACAACACTGACAAGTATTTCTATATAGAAGAAAATCAGAATCACCTGTAATCCCACCACCCAGAGAAAACCAGTAGTAATGTTTTAATATTTGATGTTTATCCTTTAGCTAGATATTGATGATGTTTATAAAAATAGGATTATTATTGTTTGACCTTTGTTATGCCCATGTCATAGACATCTTTCCATGTTGTTAAATTGATTTTTTGCGTCATATTTTAAGCTACATGCAGTGGTACCTTGAGTAGCATAAGGGCCACCTTGAAAGAAGGGGTGGTGGGAAAGTTGACTTGTTTTCACTTTGTTTTCTGCATCAGAGGCTAATGTTTCAGGTAACCATTGGGCAATGTCTAATAATTTGAGATGCCAGACGGTACTAAAGTTACTCTAACCTAGCCTACCCGTGCATCAGTGTTTTAGGGCAGAAATCAATGTCCTCACCCTCCTGTGGTCAGCGTCTGCCTGAGCCGTTGACTGAGGCTGTGTTTCCGTTTTAGGACATCGTCTCCGCGCTGGAGGACCGTCTCAGGCCCCTGGTGCAGGCAGAGTTATCTGTGCTCGTGGATGTTCTCCACAGACCCGAGCTGCTTTTCCCAGAGAACACAGACGCCAGAAGGAAATGTGAAAGTGGCGGTTTCATTTGCAAGTAAGCGGCCTCTCTCTCTGGGGTGTTCATTTGCCAGAACCTTGATGACCTCACAAAGCTTTTGTTCCCGAAGAAGGAGACGTTGTCCTGTTTTTTAACTTTGATGAATGCAAGGTCATGTGCTAAAGTCCTGTTCTGACCTCCCCAAAGTAAGTTTGTCTATTAAATCCTGCTTACTGACACTTTTTTGTTTTGTTTTGTTTTGCTTTGTTTTTTGGTGAGAAGTTCTTATTTTCACTGCATGCCCATTCATTCATTCATTACAGTGCACCCACCGTGTGCTGTGGTACAGACATAAAAAAGCCATGATCCCTCAGCCCTCAGAAATCTCAGATCTATCGTGACCTCACCATCTTTTCCTAATAATTTTGTAATTTCTTAGTTTATGCCTTGTGCGTAATCTGTAAGCAACAAGCAGACCCATGGTTAGAAATCTCCATTAGATTTTTGCCCCAAGGCCGGACACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGGGGCTGGTGAATCACCTGAGGTCAGGGGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTATCTTGACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCTCCTGTAATCCCAGCTACTCTGTGGCTGAGGCAGGGGAATCACTTGAACCCAGGAAGCAGAGGCTACAGTGAGCCAAGATCGCGCTACTGCACTCCAGCCTGGGTGGCAGAACGAGACCTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGATTTTTACCCTAAGATTAGTTGTTTGTTTAGCTTGGGGCTGGACTCTGCATGTGAGTTTCTTACTTTTCTGGGCCCCTCTAAGGACAAGCTTGTGCATAAGGGAACTGTGTGTATTGGCCTCAACCATCATCCTCATGAGTTGTTTTTGTTTTACAGTGTTGGCATATTTGACCCATTTTACTGGCAATTCTCAGTGGATAAATAGCCACGCTTTATAAACGAGCAGGTCTGAGTGGACCTCTGTCTCGGTTCTCCTCTCCATATAATCTCTCCATTGTATGTGGCTGACTCCTGCCCAGTGAGCCTGTTTGCTGTGATTTACCAGCAGGTGTCACTATTGAGACACAGTTGCTAACTGGCTGTTCTCAGTGCAGGGAATGCCCTGAAGTATCTTTAACCTGAGAGCTCTTAATAAATATTTGTTCATTAACGGACTAGTTAAAATAAATTGCTTGTGAAGTCTTTTTAATTTAAAATTAGCTTCAAGGAAGTAATCCGTGGTTTTCCCCCCATTCAGGTTAATAAAGCATACAAAACAGCTGCTAGAAGAAAATGAAGAGAAGCTCTGCATTAAGGTCCTACAGACCCCGAGGGAAATGATGACCAAAGATAGAGGCTATGGAGAAAAGGTACTGCATTTTATTTTCATGGTCAAACCAGGTTTTACTATGAAACTGAAGGGAGGGACCTTTCAAAACCCACCTTAGCTCAGGCATTACTGACTGAGGGGCTAGCTTTTTTTAAAAGAAAGAAAGAAAGAAAGAAAAAGCTGTTTATCCTGCCGTTAAAGGGAGCTAAATCATATGACTGTCTTTTTTAAAAGTCAAATATACTTAGTCGTCTCTTATAGGCTGATTGCCACATAATCTAATGTCAGAGAAGTGGTAATAACAAGATTTTCCATCTATTTAAATTCCCAGTGAGGAGCAAATGCCTCTTTTGTATCAAAGTATGCGTTTCTGATTTTTAGGTTTCAGCCAAGCATACCTGTGGGTTTACTTGCCTCGTTCAGATGAGCTGTTGCGCAATCCTTTCAGTGCATCAAGAAACGCCCTCCACTTCTAACTGCAATTAAGGCAGGCATACACGTCACCACTTCTGAGGGAGATTGGGAAATGGACAGTCCCGTGACCTGATTGTTCTTAGTATATGCAGTGAACAAGGATATACCAGATCCATTCCTTACACCTCTGATGTTGGGTAGAGCAGGACAGAAACAATGTCATTCCCTTTCCTTTCAGCCCCCAGCAACAAATGATGGGCGTGAATTGAAATCTCACTCATTTTCATTTGAAGGTAATAATGTTCAGTAACGGTCAGCTAGCTACATTTAGCAACAATTTCTGAGTAGGTGAATATGCTGATATCACTGACTTATCAAAATACCCAGTAAGTCATTTTTCAGCTCTAGGAAGAAGCCTTGATAATTAAATCAGCCTGCCTTGTCAAAATCGATGGTGGCAACCAGATTGTCACAAGTATAAATGTCTGCAGGAATGTTGCTTTCTAACCTATCTGTCATTAATATTAGAGCAATGTTACTAGTGAGACTCCTTGGATAAGAAAACAGAAAACGGATTTTGCAGTTTCTTAGTTTATACCACGGGGCATAATCTGTAAGCAACAAGAGTTCCATGACTAGAAATGTCCATTACATTTTTTAGAAACTAATTAGAACATAGGTTTCTGTAACTCAGTAGGAATTTTGCAGAGAAAACCTGCCAGACAAGAGTTTATAAATATAAATGATGGAAGTGAAGACCCCTGGCAAGGTGAGAAGTGCTGGGATGGCCTGTTCATACCTGTATAGGCACCTAGTAGATCTCTTAAAAACAAGAAAAGAAAAAAGGTGGGGGGTACGGGGGAAGGCTGATGGCAGAGAATACACTTACCAGACAAATAAATATTAACCATTTATTTCACAAGATCTTCATTTCTCTTAAAGTGAGTTTTCAGAAACATTTATAAAATATGAATCTAGTTACAGAAACTTGCTCTCCATAAAAAAGGTTAAATCCACCAAAGCTGAGTGAATATTTTTGCATCCATGGGCATAAAACCTGATTTTTCAAATCTGGAGACCACAATTTTCTCTTATTTGGAATATCTATTTCTTTCCATAACCGAGGTATTTAAAGTAAACTTCGGTGCCTCTATTCTAGTGACTTACAAGTTGTGATTATACATGCAGTTCCCTGCAGTTGTCTTTTTATAACCTGGAACGTAGAAGCATTGTCCTGGAGTTTCCTGAGTCTCTATTGCCTGGCGGACAAGTATGTCAGGGTCTTTGAGGCTATGTGGAAGGTGTGCTGCCCTGCTCCCTGCCCCTACCCATTAGTGCCAACTGGGAGAGCATCCCAGACCCCAGGGGATGCCGCATGAGAAATGTCGTAATGCATGTTATAAAGCTCATGGAGAAAGAAAGGGCATAGGGTTGAGAGGACCCTCAAAGGAGATCACTTGGAAAGAGTAAATTATATCACAGTTTTGTAGAGGTTCCTGGGGTCTAGCTTAAATCCTTTTCAGCTGGTGAAGAAATCAGTCACACCTAAGCAGAGAGGCTTGGAGAAGAGATGGCCTTTCTTTCCAGTCTGGTTAGGGCTGTCATTCCCATCCATGAATGTGAACAAACTATA
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Task1_train_5887
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With a mutation on Chromosome 3 in gene ITPR1 (inositol 1,4,5-trisphosphate receptor type 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Spinocerebellar ataxia type 29
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TCTGTGATAGCTGCATGTTTCCTCCTAACAGGTTGAAATGCTCACAACAGATGAATTTGTGTTGCAGGTGTATTTTTTAGCAACTTGTTTTGTCTTTGGTCTACCATCAAATTGATGCCTAAACATATTTTCCTGCAAACTAGCATTTCCCTGCAACTAGATGGTGGCTAAGCCTTTTGCTCCTCCTTCCCATGCAGTGACCATCTTGGTGATGGTTGAATGATTTGAGGGATTTGATTTTATTGCACTTCGTCCCGTGGTTGTTAGGACTCTTGTCTTTCCGTAAAATAATGAGGATATTGGCACCCAGGATAGTGAAAGCTGCCATTTATTATACATTTACTGAATGCCAGGGGCTTTCCTAAGTGCATTGCATTCTTTGTCTCATTTTCTCCTCCCAGCTACTCATTATATGATAGGTACAGTCTATCCCAGTTCCACAGAGGAAATGGAAGCTTGTTAGTGGCTGGTCTGTAATTTCAGCCTGGTATATCTAATTCTAATGCCCATGCTGTGTACATCCACAAACTCCTATGGGAGTTTACAAAAAAACATCCCTGTACAGAAGTGCTTACTTTAAATCAGTTTAAGCACAATTACAGGTAAAAGATACAAAAACATGGAACTCAAAGGTGGGTCTTACCTAGTTTGTGTTTTTAGGCAGTGCTCAAAGCACAGATGTGAGTTGCCTGATTTCCTGTCTTATGGTGATGACTGTGGGGCAGCTTCAGATCCTTGGTGGGTTCCATGTATAGCACAGAAATACTCAGTGTACGCTTAATTTGTCCTAGCACATGCTAAGGAGGAAGCCTGGACTTCTCACTAAATGAAAACTGGAAGCATAGCTGCCCAGTTCATGGAGCTATGCTGGCTTCAGTGAAGATGCAGTTCTCAAGGCATCCTAGAGATGAGAACTTGGCCTTTCAAATCCAAAAATCAATGCAGAGGTTCTTCACATAATCTCTCAAAACCATTCTCTTTACTTTCTGTAGTGAGGTCATTTAACAATTATGTGAAGCCCTTGGGGAGGCATCATGACAGGGATTTGGAAATGCAAGACAGACTCTGCTCTGAGAAGCTGTAGCAGAGAGAATGTGCAACCCAATTTCTACCTTGTGCTATAGATATAAGGACAAGTCAAGGACAAGCAGCATAAAGGAGGTGACATTGGAATTGAGTTCTGCACGAAAGGACAGATAGACAATTTTCTGCCTTTTGAAGCTGATCAGCCCATTTCTCCATGTGCGTTCATGGTTTAGTTATTGCCAATAGTAATACAAGGCAAGTCCTTAAATATGTACCTCCCAAACACAGTCAGAATCCATTCTAAATGGCATAGGTCCTCTCTTCTTAAGTATATTCATCTCCCCCATCCCCAGCTCTTGGCTCCACGCCAAGCAGTGAGCAAACATTTGTTGAATGAATAAACAGATAAATTATGTAAAAGAGTAAGTTGGGGGTTAGAGTAGGCTTGTTAAAAGGAGAGCTAAAGTGATCATTATAGGCTGAGCTTCCTTGAGAGTGTTCTAAGAAGTGTTTGACTTTGGTTTGTTTCTGAAACCAGTTCTGAACTCTGCCACAAGTAATTGTGTTTTAATGTAAGGGAGAGTCTTTGCTGGCTGGCTTTAGGTCCCTTGCTGGAAATGTATCATTCTTTTTTCATCTTACCTGTCTGAATTCAAACACCATCTCTGCTGCTGACAAGCTGGGTGTCCTTAGGGAAAGCACCTTCATCGCTCTGTGTTAATAATCAGTATTTTCCTTGTGGGATTAAAAGGGTTAAAAGAGATGAACATGGGTAAAGCATTTAGTGCATAAAGTGTTGGTGCGTAGTAAGTATGCAGCAAACATTAGCTGTTCTGATTGTGCTTAGTAAAAACAATATTCCATCTTCTTAGGGGGAGGTTCCGGATCCAGCTCTATGAGCAGGGGTGAGATGAGTCTGGCCGAGGTTCAGTGTCACCTTGACAAGGAGGGGGCTTCCAATCTAGTTATCGACCTCATCATGAACGCATCCAGTGACCGAGTGTTCCATGAAAGCATTCTCCTGGCCATTGCCCTTCTGGAAGGAGGCAACACCACCATCCAGGTAGGAAGGCAGCTTGGCTACTGGTATGGCATCCCTGCTGAGCAGGAGGAGAGTCTGTTCTGGGAGCCAGATGTCTGGGTGGTACCAAGCCTTGTTTGAGAGACAGCTCATTCTGAGGGCACAAAATTCTGTTTTGAAAAATGAGTTCTGCTAGTATCCTGCTGTGATCATTTGGTCATAAATCAGACTTGGTTCCAGAACATGAGTTACATTTGAAAACTGATAAAACACTGAGAATACGCAAAGGAAACTGGCCTAAGATCTGGCACATAGTGGGCACTCCATAAATGTTTGTTGAATAAGTAAATGATTGCATGAAGTTTATTTACAGTTTTTATCCAAGATTGTAGGGGATCTCATCACAAGATGACCAAAGAGTTTGAACTGTGTGTGCTATTTAGAAGATTTAACTTTTATGTATCTATAGATACCACAGCTGTTGCTTCTGATAAATTTACCTACCTTTTAACTGAAAGTTTAATAAAGCCAAATCAATTTGAAATACTAGAGATACCAGGCTATGTTAGTCAGAAATGAATAGATGACTTTTTGAAAGGTAGGTATGATATATATTTAAAACTAATAATAAAAACTCAAATTCTATTTCTAGTTCACTTTTTATAGATGTCCTTAAAAAACAATTTTCATGATTTTTTCTTCCACAACAGTCATCTTAGAACATGAATTTTAATAATACATAAATAACATAACTTTTATATATGATCCCTTTAAATATTTTTAATACCTCCTTTATGCACTCTTCCTTCTTTGTTAGCTCTCTGAATAAGAGTTTTTTTTTTGGACGTGTATCTATGTACAGACTCGTGTACACATACACACACACATATGTTTTGATAAAAGCTTTATTGAGATATAATCCACATACTGTAAAATTCACCCTGATGTATATATTTGACCTGACATATTCTTGGCCTTGAACTGAAATTCGGAGTCTCGGTTAATGAAGTCTTGGTTCTTTGTGCAACTTTGTAAAGGGCGTTTCTTCCTGTGAGTCAGTGTGCCCCCGGCCAGGGTGCCTGGCTTGGCAGGTGCAGCACAGGTGAGATTTCAGTCCCTGCCTGCTCCTCCAGCCAGCACCCTTGTGCCTTGGCACAACCTGTGCAGCCAACTGCGGTGGCCCTTTTCTTTCGCCTTCCAATCCCCGCTTCCCCCAACGTACACTTTTGAAGTTCATTGTCACGTGTTGCACCAGGTTGGGATTTGGGACAATGAGTGAGGCACCTGGGCCAGTGGCAAGGCCCACTGCTTGTCTAAGTTGTCACGTGGGCACGAGTCGTACACGTTGGGATTGCTTTTTATTTTGTCATGTGTGTGTGGGTGGGTCCTGCAGTCCTTCTCATCAATGGAATGTTGCCCAGCCACTGCTGTGTTCTGGGCTCCTGTGTTGGGAGGAAGCAGAGCTGAAATGCTCCTTGTCTTAGAACCACATGATTTCCTGTGATTAGAGCAGTTGAACTGAATAGTCATTGAGCCCTTTCTGCGTATGTGCTGCTATACCAGGGGCGATGATGGGGCAGTGGTTTCCAGACATGGGAGCCAGTTCGTCTGTGAGGATTTTCTCCAGGCATAGTCAAGTGTGGAAAATGAGGACAATGTGGTGAACTTTTCATAAACCAATGGATTCAGGTTGAAGACCTGGCCATTTTTTTCTGAGATTATATCTCTCCAATCTTTATCCTTAGCCACAGTGTCTTCTTTAATGAAATGGTGTTGATTATGGATGATAGATTTTTTTTTTCTGTTGGCCAAATTAGAAGTTGGAAACCCTAGGTTGTTATTCCTTCCCTTCCCCAAATTTCAAAGCTTTACCAGTTTGAGAAATCCCAGAATCTCAGTCCTCAAGAAATTGAACCTCTAACAAGGATACGTGGATGTGCACATACGATGCTATGTCTCAAGGATGACATTTAGTGCCCTCCAAGAAGTAGAAGTGATGCCGGGGAACCACCAAGGAAGAAGGACCAGCATCTCTCTGGGGAGCCTGCA
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TCTGTGATAGCTGCATGTTTCCTCCTAACAGGTTGAAATGCTCACAACAGATGAATTTGTGTTGCAGGTGTATTTTTTAGCAACTTGTTTTGTCTTTGGTCTACCATCAAATTGATGCCTAAACATATTTTCCTGCAAACTAGCATTTCCCTGCAACTAGATGGTGGCTAAGCCTTTTGCTCCTCCTTCCCATGCAGTGACCATCTTGGTGATGGTTGAATGATTTGAGGGATTTGATTTTATTGCACTTCGTCCCGTGGTTGTTAGGACTCTTGTCTTTCCGTAAAATAATGAGGATATTGGCACCCAGGATAGTGAAAGCTGCCATTTATTATACATTTACTGAATGCCAGGGGCTTTCCTAAGTGCATTGCATTCTTTGTCTCATTTTCTCCTCCCAGCTACTCATTATATGATAGGTACAGTCTATCCCAGTTCCACAGAGGAAATGGAAGCTTGTTAGTGGCTGGTCTGTAATTTCAGCCTGGTATATCTAATTCTAATGCCCATGCTGTGTACATCCACAAACTCCTATGGGAGTTTACAAAAAAACATCCCTGTACAGAAGTGCTTACTTTAAATCAGTTTAAGCACAATTACAGGTAAAAGATACAAAAACATGGAACTCAAAGGTGGGTCTTACCTAGTTTGTGTTTTTAGGCAGTGCTCAAAGCACAGATGTGAGTTGCCTGATTTCCTGTCTTATGGTGATGACTGTGGGGCAGCTTCAGATCCTTGGTGGGTTCCATGTATAGCACAGAAATACTCAGTGTACGCTTAATTTGTCCTAGCACATGCTAAGGAGGAAGCCTGGACTTCTCACTAAATGAAAACTGGAAGCATAGCTGCCCAGTTCATGGAGCTATGCTGGCTTCAGTGAAGATGCAGTTCTCAAGGCATCCTAGAGATGAGAACTTGGCCTTTCAAATCCAAAAATCAATGCAGAGGTTCTTCACATAATCTCTCAAAACCATTCTCTTTACTTTCTGTAGTGAGGTCATTTAACAATTATGTGAAGCCCTTGGGGAGGCATCATGACAGGGATTTGGAAATGCAAGACAGACTCTGCTCTGAGAAGCTGTAGCAGAGAGAATGTGCAACCCAATTTCTACCTTGTGCTATAGATATAAGGACAAGTCAAGGACAAGCAGCATAAAGGAGGTGACATTGGAATTGAGTTCTGCACGAAAGGACAGATAGACAATTTTCTGCCTTTTGAAGCTGATCAGCCCATTTCTCCATGTGCGTTCATGGTTTAGTTATTGCCAATAGTAATACAAGGCAAGTCCTTAAATATGTACCTCCCAAACACAGTCAGAATCCATTCTAAATGGCATAGGTCCTCTCTTCTTAAGTATATTCATCTCCCCCATCCCCAGCTCTTGGCTCCACGCCAAGCAGTGAGCAAACATTTGTTGAATGAATAAACAGATAAATTATGTAAAAGAGTAAGTTGGGGGTTAGAGTAGGCTTGTTAAAAGGAGAGCTAAAGTGATCATTATAGGCTGAGCTTCCTTGAGAGTGTTCTAAGAAGTGTTTGACTTTGGTTTGTTTCTGAAACCAGTTCTGAACTCTGCCACAAGTAATTGTGTTTTAATGTAAGGGAGAGTCTTTGCTGGCTGGCTTTAGGTCCCTTGCTGGAAATGTATCATTCTTTTTTCATCTTACCTGTCTGAATTCAAACACCATCTCTGCTGCTGACAAGCTGGGTGTCCTTAGGGAAAGCACCTTCATCGCTCTGTGTTAATAATCAGTATTTTCCTTGTGGGATTAAAAGGGTTAAAAGAGATGAACATGGGTAAAGCATTTAGTGCATAAAGTGTTGGTGCGTAGTAAGTATGCAGCAAACATTAGCTGTTCTGATTGTGCTTAGTAAAAACAATATTCCATCTTCTTAGGGGGAGGTTCCGGATCCAGCTCTATGAGCAGGGGTGAGATGAGTCTGGCCGAGGTTCAGTGTCACCTTGACAAGGAGGGGGCTTCCAATCTAGTTATCGACCTCATCATGAACGCATCCAGTGACCGAGTGTTCCATGAAAGCATTCTCCCGGCCATTGCCCTTCTGGAAGGAGGCAACACCACCATCCAGGTAGGAAGGCAGCTTGGCTACTGGTATGGCATCCCTGCTGAGCAGGAGGAGAGTCTGTTCTGGGAGCCAGATGTCTGGGTGGTACCAAGCCTTGTTTGAGAGACAGCTCATTCTGAGGGCACAAAATTCTGTTTTGAAAAATGAGTTCTGCTAGTATCCTGCTGTGATCATTTGGTCATAAATCAGACTTGGTTCCAGAACATGAGTTACATTTGAAAACTGATAAAACACTGAGAATACGCAAAGGAAACTGGCCTAAGATCTGGCACATAGTGGGCACTCCATAAATGTTTGTTGAATAAGTAAATGATTGCATGAAGTTTATTTACAGTTTTTATCCAAGATTGTAGGGGATCTCATCACAAGATGACCAAAGAGTTTGAACTGTGTGTGCTATTTAGAAGATTTAACTTTTATGTATCTATAGATACCACAGCTGTTGCTTCTGATAAATTTACCTACCTTTTAACTGAAAGTTTAATAAAGCCAAATCAATTTGAAATACTAGAGATACCAGGCTATGTTAGTCAGAAATGAATAGATGACTTTTTGAAAGGTAGGTATGATATATATTTAAAACTAATAATAAAAACTCAAATTCTATTTCTAGTTCACTTTTTATAGATGTCCTTAAAAAACAATTTTCATGATTTTTTCTTCCACAACAGTCATCTTAGAACATGAATTTTAATAATACATAAATAACATAACTTTTATATATGATCCCTTTAAATATTTTTAATACCTCCTTTATGCACTCTTCCTTCTTTGTTAGCTCTCTGAATAAGAGTTTTTTTTTTGGACGTGTATCTATGTACAGACTCGTGTACACATACACACACACATATGTTTTGATAAAAGCTTTATTGAGATATAATCCACATACTGTAAAATTCACCCTGATGTATATATTTGACCTGACATATTCTTGGCCTTGAACTGAAATTCGGAGTCTCGGTTAATGAAGTCTTGGTTCTTTGTGCAACTTTGTAAAGGGCGTTTCTTCCTGTGAGTCAGTGTGCCCCCGGCCAGGGTGCCTGGCTTGGCAGGTGCAGCACAGGTGAGATTTCAGTCCCTGCCTGCTCCTCCAGCCAGCACCCTTGTGCCTTGGCACAACCTGTGCAGCCAACTGCGGTGGCCCTTTTCTTTCGCCTTCCAATCCCCGCTTCCCCCAACGTACACTTTTGAAGTTCATTGTCACGTGTTGCACCAGGTTGGGATTTGGGACAATGAGTGAGGCACCTGGGCCAGTGGCAAGGCCCACTGCTTGTCTAAGTTGTCACGTGGGCACGAGTCGTACACGTTGGGATTGCTTTTTATTTTGTCATGTGTGTGTGGGTGGGTCCTGCAGTCCTTCTCATCAATGGAATGTTGCCCAGCCACTGCTGTGTTCTGGGCTCCTGTGTTGGGAGGAAGCAGAGCTGAAATGCTCCTTGTCTTAGAACCACATGATTTCCTGTGATTAGAGCAGTTGAACTGAATAGTCATTGAGCCCTTTCTGCGTATGTGCTGCTATACCAGGGGCGATGATGGGGCAGTGGTTTCCAGACATGGGAGCCAGTTCGTCTGTGAGGATTTTCTCCAGGCATAGTCAAGTGTGGAAAATGAGGACAATGTGGTGAACTTTTCATAAACCAATGGATTCAGGTTGAAGACCTGGCCATTTTTTTCTGAGATTATATCTCTCCAATCTTTATCCTTAGCCACAGTGTCTTCTTTAATGAAATGGTGTTGATTATGGATGATAGATTTTTTTTTTCTGTTGGCCAAATTAGAAGTTGGAAACCCTAGGTTGTTATTCCTTCCCTTCCCCAAATTTCAAAGCTTTACCAGTTTGAGAAATCCCAGAATCTCAGTCCTCAAGAAATTGAACCTCTAACAAGGATACGTGGATGTGCACATACGATGCTATGTCTCAAGGATGACATTTAGTGCCCTCCAAGAAGTAGAAGTGATGCCGGGGAACCACCAAGGAAGAAGGACCAGCATCTCTCTGGGGAGCCTGCA
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Task1_train_5888
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A mutation in ITPR1 (inositol 1,4,5-trisphosphate receptor type 1), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Gillespie syndrome
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CAACCTTTCTCTTCCACGTAAGGTATCTCATGAGGGGATAGGAGCTTCTGAACTGTTAGGTCACACAGAATGAAGATTCCTTGCTCCAAGCTAAGAAGTGAATCCCAACAGCATCGAGTACTAAATACCTTGGTTCTGAAAGTCACAAAGAGAGAAACAGTGGAAACGCCATTCCCTCTCTGGTTTCTGATTTTTCCCCATTTGAGGGAAAAGGGCCGGTTGAAGAATAGTACAACTAAGCCTATCTAGGACCAAAAAAAAAAAACCCAAAAAAACAAACATGTATTTTTACTTAATCAAGGAAATACCTTTTTCTCTTTTGTCACTGATTTAGCAGAAGGGTGGTTAATAATGTTGGTTTAAAATAAGGAAAATTACACAAACCAAAAATGTGCCTGCGGGCCTCTGCTGAGTTTCTCTGTATTGTGTACAAATGCGGGACTGCAGGTGACTGATGTGGAAGCCCCACTGACATTTGGACTCTCTATTACTCAAACAGCTTAACGGAATGAAAATCGTGACTTCTAGGTGCTAAACCTGCAGCATTTCCAAGCTGGCCTTTTTTGGATATTTGAGAAATTGATATACCATTCCTGATGTTGACTTCTAAAGTATACCCAGAAAACCCTCCCTTCTATGTAGGGGTTCCATAGGTTCTCTGAGAATCCCATGATTCAGTTTTAACAATTGAGCTTGCAGGCATCAGGTTTCTAAAGTATATTTCAAAACATGTTAGCCTTTCTGGACACATTTCCTTTTTAACTGTTCCCATGTCAGGGCATGTTGAGATTTGTCCTCTATCTGCCCATCCGCAGCAGCGAGCACTTCATCATTATCATGAAAGAGCCTAGAACTACAGGGTTTTGGCTGAAAGGTTGAGCTGTATTTATTGCATGAAGGATGTCATAGGAAAGGTCATTAGGAAAGATGGGAACACAGAAACCTGTGGGAATGGCAGTTATTTTTTCTTTACTATTTAGAACTGAGAGTCCACACTAACAGTCGATTTGGGTGTGTGGTTTAAATGGACTTTTTTTCTGCTATTTTTAATTCCTTTTGACAAATTGTGTTTTAGAGTGAATTTTAACAGATTCAACCTTGTGTACCTGGCCACCATTTATCAGAAAGTCCGAAATAAACAGAAGTTCATGTGCTCCTGGTCAGCATTTGAGTGACTTTTTCAACTAATCCAGTGATCTATGGATGATGATAGAAATTTGTGCCCTGCGATAGCATGATACCCTGACTCAACTGCTGTGACCTAAACTAGGGGAAGAAATAAGACCACTCTCACTGTCCAAAAAAAGAAAAAAAACCCAACAGCTTTCAAGTCCTGTACATAAAGAAGCATACAAAGTATCATAGACCCAGGGCCTAAAATGAAGTCAAGCCAGGAAGTACAGGATGTGGGGTGTGAACATGGGTGTTTTTAATGTAATGGGAAATTAGGGCTTGGCCTGCATACATTGTTCCTTTGGGTCACATTTGTTAACTAGTGTCAGATGTACTCATTATATTAGGGGTTATGAGAGCTAATAGAAATATTTTAAGACAGGGAAGAATTACCTTTATTACCTGTCTTCTCTGGCCTGCAAGGCCAAATAACAGTTTGTAACCACACCTGCCCGGAAGGCAGCACAGATCTGTGTAGTAGCAGCTTCTTCCCAACCACTGTCACCATGAGGGTGACAGTGTATCCGTAAGCACCCACGTGTAAATTCCCAATTTCTTCTAGGACTTGTACCAGCTAACATTAGGGCATAACACACATGCCCTGACAAATATGTGCCTCTTTGTCCGAAATCAGATTCTGCACACGTATCTGGGGTCTGAAGGGGGATGCTCTCTGCCTGGTGCAGATGGATTTTGATGTCCTTAACCCAGAGCTTCCTCATGGGGTGAAATGTTCGTCTGTTTAGCCGGGATGCCTCCCATGTGCCAGTTGGCACCTGCATTCAGGCCGGGCCCCCAAGCAGCCCCTCTACATTTCCTCTCCCTTTGTTTCTCCAACTAGAACAATGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAACGCAGAGAGGATACTTTATAACATGAGGCCCAAGGAACTGGTGAGTCGGGTGACGGATCTGATGGTAGCACCAAGGAGCATTGCGACGATATTTGGGACAGAGCAGAGGATCTGCTTCCTGGAGCTTTCTTGAAGGTTCCCAAAGTCAGAAGTATAAAGGGAACATTGAATTCAGGCCTCTGACTGAGTAGAGAAGTGAAATATTTTGGTTGGTGCAAAAGTAATCGCGGTTTTTGCTATTACTTTCAATGGCAAAACCACTATTACTTTTGCCGTTGAAAGTAATGGCAAAAACCGCGATTACTTTTGCACCAACCTATATGACATTGAATACGTGCTGTTTTACCCTCTCCCTTTGGCATAAACCACATGGAGAAGCCTCCGTCTCTGTTTTTCCCTCATGGGGGACAGTGTGGTTACGGAACCTAGCAGACCTGAGTTCAAGTCCATAGCTCTGCCTGTTTTGCTGTGTTACCTTAGACTTCTCTGAGCTGCACTTTCCTGATCCATAAAAGGACAATAATAATAATATTCCCTAGTCCAGAGGGTTGCTTTGAAGACTAGATGAGAAGATTCATGTCAAGCCCTAGCACCATGCTCAGCACCTGATACACCCTTAATGAACGGAAGTTCCTTTTCCTTTTTCTTTCCTCGTTTGCTGCTGGTATTTGAGCCATATCTTTGTCCAGTGCTGAAGAATTCATGTCTCTTCTTGGTGCCAAGAGTCTGAGCTACAGAAATGTTTTTTGGTTGCTGACGTTTGGATTTTTTGTTTGTTTCATTTAAAGAAAACACGATCTGGTTTATTTTTGAGGGGTGATAGTCACAATTGGCTGTGACTTGCAGGTTGGGAGAGTGTTGCAGGCTGTGAGACGAGCAGCTTTCAGAGACGGTGACATGAGTTGAGGGCAGAGCTCTCTATTTGGACTCTTTTTCCACGCTAATAAACTGTAACTGACAGACTTAAATGAGGGCACCAAAACATTTCTGCCTCCTGGTGACCTGAATGTGCACTTGGGGGCCAGGCAAAAGTCCCTTTATGTATGCTTTTAAATAAAGTTAAGAGCAGCCCAGTTCTTTGATCTCTGAGGTCAGGGAGTAAGTTCTCAGCCCGAGATGGAAGGCCTCTCTGAGTTTACATAACAAGCTTATGTAACTGGGGATCACTGGGGAGGCGAGGTTTGTCATTCTTGAGCAGGGATGGAATGACTATGCAGGGACCCCATTCGGCTTCCCAGGAATCAAGAACATGCCCCAGCTCTCTGACCTATCTCAGGTGGGGAAAATGTCAACACCCAGTGAGGTGGCTGGCACCGGCTCTTGGGCAGCCCCCCGGTGGTTGGAGAACATCATTCTGGCTCATAGGAGGAGTCAGGCTTCCTGGAACAAACACTGTTCTAAGAATCCAAATAGAACACGTGTGTACATGCATGTGTGCGTACATACGTGTGTATGCTCCTGGCCTCAAATCGCATGTAACATGTTGTCTGCTCGATTTAGTATTTGAGAGAATTGGCAGGGAAACAAGCTCAGACAGTGAGGCTCTCTTGTCTCCACCGTTACTTCCAGGGCCTGACTTGGTGTCAGTGCTGACATACGTGGCCTTTGGTATTAGATAATGACAAATAATTCATGGGAATGGCCTCGTGGCAATGGGGGAGGCAGAAATGCCCACTGAATCTTCAAAGAAGATTATAATTTTTAGTACAAATTAGAGGTTGAAGGTATTTTCTTCTTCTTGAAATGATTCAATCATGAATGATGTGTTCATTTGATAAGTGTTGGCCACACCCTACATTGTCCTGGGCATTGCGGAGGGTCTTAGGGGAAGGATTCAGATATGAGCAGACCCAGTCCCCGCTCTCAAGAAACTGAGACAGAAACTTGAGGGAACAATCAGACAGGCACAGAAATGCTCTGAGAAATGTGCTCAAACCATGAGACAAGCCAAGTGTGTGGTCCTCCGGGAGCCGAGTCGTGCGGCTGTGAAGGGTAATAGGGCCAAGTTCACATCCCAGCTCACCAC
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CAACCTTTCTCTTCCACGTAAGGTATCTCATGAGGGGATAGGAGCTTCTGAACTGTTAGGTCACACAGAATGAAGATTCCTTGCTCCAAGCTAAGAAGTGAATCCCAACAGCATCGAGTACTAAATACCTTGGTTCTGAAAGTCACAAAGAGAGAAACAGTGGAAACGCCATTCCCTCTCTGGTTTCTGATTTTTCCCCATTTGAGGGAAAAGGGCCGGTTGAAGAATAGTACAACTAAGCCTATCTAGGACCAAAAAAAAAAAACCCAAAAAAACAAACATGTATTTTTACTTAATCAAGGAAATACCTTTTTCTCTTTTGTCACTGATTTAGCAGAAGGGTGGTTAATAATGTTGGTTTAAAATAAGGAAAATTACACAAACCAAAAATGTGCCTGCGGGCCTCTGCTGAGTTTCTCTGTATTGTGTACAAATGCGGGACTGCAGGTGACTGATGTGGAAGCCCCACTGACATTTGGACTCTCTATTACTCAAACAGCTTAACGGAATGAAAATCGTGACTTCTAGGTGCTAAACCTGCAGCATTTCCAAGCTGGCCTTTTTTGGATATTTGAGAAATTGATATACCATTCCTGATGTTGACTTCTAAAGTATACCCAGAAAACCCTCCCTTCTATGTAGGGGTTCCATAGGTTCTCTGAGAATCCCATGATTCAGTTTTAACAATTGAGCTTGCAGGCATCAGGTTTCTAAAGTATATTTCAAAACATGTTAGCCTTTCTGGACACATTTCCTTTTTAACTGTTCCCATGTCAGGGCATGTTGAGATTTGTCCTCTATCTGCCCATCCGCAGCAGCGAGCACTTCATCATTATCATGAAAGAGCCTAGAACTACAGGGTTTTGGCTGAAAGGTTGAGCTGTATTTATTGCATGAAGGATGTCATAGGAAAGGTCATTAGGAAAGATGGGAACACAGAAACCTGTGGGAATGGCAGTTATTTTTTCTTTACTATTTAGAACTGAGAGTCCACACTAACAGTCGATTTGGGTGTGTGGTTTAAATGGACTTTTTTTCTGCTATTTTTAATTCCTTTTGACAAATTGTGTTTTAGAGTGAATTTTAACAGATTCAACCTTGTGTACCTGGCCACCATTTATCAGAAAGTCCGAAATAAACAGAAGTTCATGTGCTCCTGGTCAGCATTTGAGTGACTTTTTCAACTAATCCAGTGATCTATGGATGATGATAGAAATTTGTGCCCTGCGATAGCATGATACCCTGACTCAACTGCTGTGACCTAAACTAGGGGAAGAAATAAGACCACTCTCACTGTCCAAAAAAAGAAAAAAAACCCAACAGCTTTCAAGTCCTGTACATAAAGAAGCATACAAAGTATCATAGACCCAGGGCCTAAAATGAAGTCAAGCCAGGAAGTACAGGATGTGGGGTGTGAACATGGGTGTTTTTAATGTAATGGGAAATTAGGGCTTGGCCTGCATACATTGTTCCTTTGGGTCACATTTGTTAACTAGTGTCAGATGTACTCATTATATTAGGGGTTATGAGAGCTAATAGAAATATTTTAAGACAGGGAAGAATTACCTTTATTACCTGTCTTCTCTGGCCTGCAAGGCCAAATAACAGTTTGTAACCACACCTGCCCGGAAGGCAGCACAGATCTGTGTAGTAGCAGCTTCTTCCCAACCACTGTCACCATGAGGGTGACAGTGTATCCGTAAGCACCCACGTGTAAATTCCCAATTTCTTCTAGGACTTGTACCAGCTAACATTAGGGCATAACACACATGCCCTGACAAATATGTGCCTCTTTGTCCGAAATCAGATTCTGCACACGTATCTGGGGTCTGAAGGGGGATGCTCTCTGCCTGGTGCAGATGGATTTTGATGTCCTTAACCCAGAGCTTCCTCATGGGGTGAAATGTTCGTCTGTTTAGCCGGGATGCCTCCCATGTGCCAGTTGGCACCTGCATTCAGGCCGGGCCCCCAAGCAGCCCCTCTACATTTCCTCTCCCTTTGTTTCTCCAACTAGAACAATGCCTCGAAGTTGCTCCTGGCCATCATGGGAAGCAGGCACGACAGTGAAAACGCAGAGAGGATACTTTATAACATGAGGCCCAAGGAACTGGTGAGTCGGGTGACGGATCTGATGGTAGCACCAAGGAGCATTGCGACGATATTTGGGACAGAGCAGAGGATCTGCTTCCTGGAGCTTTCTTGAAGGTTCCCAAAGTCAGAAGTATAAAGGGAACATTGAATTCAGGCCTCTGACTGAGTAGAGAAGTGAAATATTTTGGTTGGTGCAAAAGTAATCGCGGTTTTTGCTATTACTTTCAATGGCAAAACCACTATTACTTTTGCCGTTGAAAGTAATGGCAAAAACCGCGATTACTTTTGCACCAACCTATATGACATTGAATACGTGCTGTTTTACCCTCTCCCTTTGGCATAAACCACATGGAGAAGCCTCCGTCTCTGTTTTTCCCTCATGGGGGACAGTGTGGTTACGGAACCTAGCAGACCTGAGTTCAAGTCCATAGCTCTGCCTGTTTTGCTGTGTTACCTTAGACTTCTCTGAGCTGCACTTTCCTGATCCATAAAAGGACAATAATAATAATATTCCCTAGTCCAGAGGGTTGCTTTGAAGACTAGATGAGAAGATTCATGTCAAGCCCTAGCACCATGCTCAGCACCTGATACACCCTTAATGAACGGAAGTTCCTTTTCCTTTTTCTTTCCTCGTTTGCTGCTGGTATTTGAGCCATATCTTTGTCCAGTGCTGAAGAATTCATGTCTCTTCTTGGTGCCAAGAGTCTGAGCTACAGAAATGTTTTTTGGTTGCTGACGTTTGGATTTTTTGTTTGTTTCATTTAAAGAAAACACGATCTGGTTTATTTTTGAGGGGTGATAGTCACAATTGGCTGTGACTTGCAGGTTGGGAGAGTGTTGCAGGCTGTGAGACGAGCAGCTTTCAGAGACGGTGACATGAGTTGAGGGCAGAGCTCTCTATTTGGACTCTTTTTCCACGCTAATAAACTGTAACTGACAGACTTAAATGAGGGCACCAAAACATTTCTGCCTCCTGGTGACCTGAATGTGCACTTGGGGGCCAGGCAAAAGTCCCTTTATGTATGCTTTTAAATAAAGTTAAGAGCAGCCCAGTTCTTTGATCTCTGAGGTCAGGGAGTAAGTTCTCAGCCCGAGATGGAAGGCCTCTCTGAGTTTACATAACAAGCTTATGTAACTGGGGATCACTGGGGAGGCGAGGTTTGTCATTCTTGAGCAGGGATGGAATGACTATGCAGGGACCCCATTCGGCTTCCCAGGAATCAAGAACATGCCCCAGCTCTCTGACCTATCTCAGGTGGGGAAAATGTCAACACCCAGTGAGGTGGCTGGCACCGGCTCTTGGGCAGCCCCCCGGTGGTTGGAGAACATCATTCTGGCTCATAGGAGGAGTCAGGCTTCCTGGAACAAACACTGTTCTAAGAATCCAAATAGAACACGTGTGTACATGCATGTGTGCGTACATACGTGTGTATGCTCCTGGCCTCAAATCGCATGTAACATGTTGTCTGCTCGATTTAGTATTTGAGAGAATTGGCAGGGAAACAAGCTCAGACAGTGAGGCTCTCTTGTCTCCACCGTTACTTCCAGGGCCTGACTTGGTGTCAGTGCTGACATACGTGGCCTTTGGTATTAGATAATGACAAATAATTCATGGGAATGGCCTCGTGGCAATGGGGGAGGCAGAAATGCCCACTGAATCTTCAAAGAAGATTATAATTTTTAGTACAAATTAGAGGTTGAAGGTATTTTCTTCTTCTTGAAATGATTCAATCATGAATGATGTGTTCATTTGATAAGTGTTGGCCACACCCTACATTGTCCTGGGCATTGCGGAGGGTCTTAGGGGAAGGATTCAGATATGAGCAGACCCAGTCCCCGCTCTCAAGAAACTGAGACAGAAACTTGAGGGAACAATCAGACAGGCACAGAAATGCTCTGAGAAATGTGCTCAAACCATGAGACAAGCCAAGTGTGTGGTCCTCCGGGAGCCGAGTCGTGCGGCTGTGAAGGGTAATAGGGCCAAGTTCACATCCCAGCTCACCAC
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Task1_train_5889
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The gene ITPR1 (inositol 1,4,5-trisphosphate receptor type 1) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Spinocerebellar ataxia type 29
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TAGAAGTGTTCCTCACAGCATTATTTGTTATGACATATAATTGGAAACATCTTGACTGTTTTTAAAAAACATATTGGTTATGTTAATCATGTTTTTCCCATATAGTGAAATACCAGGTGATCATTTTTGACAGGAAAATGTTCCTGATGGCTTGGTGAAAGGCTGGTTATGTGCCAGTATTATGGTCTAATATTTTTGTAAACAATATATATCTATAAATTGCATTTTTTAAGGCCAGAAGGAATTAAGCTATTGAGCGAATGTCTCTAGATGGTGAATTATTAGTGACTTTTTTTCCTTTGTGCTTTTTTTTGTTTTCCAAGTTTTCTCCATTGAACATGTATAATTTTCCAATTAGAAGAAAGCTTTTCTTTTATATAAATAATACTTATTGATTGTTTTAAAATCAGAAACTATAGATGAGTGAAAAGGAAAAAATCGCTTGTCATTTCTATGATTTGGAGCCTGTGTAATCTCTGCGGTCCTTAACCACAGAAAACAAGTGCCATTTGTTTGTTGTCTGAAGTTGCGCTTACTTGCCACTTTATATTGAGCTGCTGGAAAACATTTAACCAACATTAACAGCAACACTTTGCCTTCTGTCATATTGTATTGACTAAAATCCCTCTTCCTTGCTTCCCTTTAAGTATCCTACTCTACCCAATGCCCTTCACAGAACTAGTCTCAGAACACAGATTGGTGTCAAGGAGGCAGAAAAGCCAATCGACCGGAAAATGACCTCAGATGAAAAATTCTAAATTGGAAGGGACTCAGAGATCAGCTGTCTCAGTCCACTTATTTTACAGATGAGGAAACAGATCCAGAGAGCTTAGATGGCTTGGCCGACATCTTGCAACAAATTAAAAGCAGTCAGGATTCAACCCTGTCCCCTGACTCACTTCATGGTGCAGTCACACCCCAAAGCCACAGTGGAGACCAAACCTTCTGTACAGGATTAGACAGCAGCCAGAGGCCATGCTAAAAACTAGCCTCAGGTCTAAGAGTAACTTCAGAGAGCTCTCTCCCCACACTCCCCACCATTCTCCCAGTCAAGTATCTGTGACTGTAGCTCTTGGAAAACTAGCCATCATCCTCCCATACCTATATGTACCTACAAGGATCCTCCATTCCTCAGGAAGCCAACTTCTTGCAAAGAGCAGGTTCCTTAGCAGAGGGCAAGCCTGGATTGTGAAGGCACTGTGACCTGCAGGGGTCTTACCCTCGCAATGTTAACGTCACTAATGTCCCTGCGATACACCAGCTATGTGACCCTGCCCCAGTCTCTTGATCAGGAAATTGATGATAATTACTATTTACTGTACTTACTGAGCATATGGATGCCAGTGTGCTAAGCACTGTGCGTACGTGGTTTACTTATTCTTCATAACAACTCTACATCCTCCAGTCTGCAAATGAGGAAATGGAGACTCAGAGGGGATGAGGAAAGTGCCTAGCCCGAGATCATACGGTGGACAGTAGCTGAGCTGAGATTTGAATTTACATCTAAGTCCAGAGTTCTTGCCACTGACGCTGGCTTGTAGTACGTCTGCCTTCCCACCAGACACTGGGCTGCAGGAGGGCAGGGACCAGGGTGGCTGGCTCTTCATAAACTCAATTCAGTACCTTCTAAATGAATGGATGCCAAGACCCTCATCACTTTCCTCTCCCTTTGTCTCTGAAACTCATTGGCACAAGCATGTATTTTCTCTATTTCCAGTCCCTCTAAATGGCTCTGGATACTACTTGAAGTTGCTATTGTTTCCTGCTTCCTCTTCTGTGTTTATTTTTCCTCATTTTTACCATCTCCGTTTCACTGTGAAGCCAGGGAAGATGTTCAGTGTTAAGATCATATGTAGTGCTTTTGAGTGTCTAAGAGGGCAAACTCTCTATAAACCAAGTTTGCATTATGGGATAGTGATGTACATCTAACATCAAGGCTTCTTAAAATTCTTTTTGTTTGTTTTCAAAGCTTTTTGATTTAGTGTACAGAGAAGAGACTTTGCTTAATGTCATTAAAAGTGTCACTCGCAATGGACGGTCCATCATCCTGACAGCAGTTCTGGCTCTGATCCTCGTTTACCTGTTCTCAATAGTGGGCTATCTTTTCTTCAAGGATGACTTTATCTTGGAAGTAGATAGGCTGCCCAATGAAACAGCTGTTCCAGGTGGGTTTGGGATCTTCTGATCTTTTTAATGCTAAAAGATTATTTCCTGATTATAACTGAACTAAAGAAAATAACGACTTTAGTAATGCAGATATCTCCCCATTGTATCTCCCTAACACGCAGAGTGTGAATTTCAAATACAGGTCTTCATTCTCACAATGAATGTGGCAATGTGGCATATCAAATGCTAAGAGTGGGTGACCAGATCTGACATTTATTTATTCACTAACATCATCTTTTAAACTAGTGCAACTTTTTTGTAAAGCAGTGACCATACATATTGAGAGCGTTGGAGTATGCATCCCTTTAACTGAGTAAATCTACTTCTAGGATCAATACTTAAAGAAAAAAAGGCTGCCGACTGTGCACGTAGAAACAGACATATATGGGAGAACGTTCGCTGCAGTGTACAGTTGGAAGCAGTGTAAATGTTCGGGGGTGTTTCATCAGATCATGGTACATCCATGAGGTGGGGTGCCTTGCACATAGGTACATCTTTAGAAACCTCCATGGAAAAATACCCACAAGATGTAGTTGGAAATGGCAGAAGGATAACTATAGTAGGATCACATGTATGTCTTTTTTTTTTTTTTTTTCGAGACAGGATCTCACTCTGTCTCCCAGGCTGATGTGCAGTGGTATGATTTCACCTCACTGCAACCTCCAACCTCCCGAGCTCAAGCAATCCTCCCACCTCAGCCTCCCCAGTAGCTGAAACTGCAGGCGCCTGCCACTGCATGTGGCTAATTGTATTTTTTGTAGAGATAGGTTCTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAGGCGATCCCCCAGCTTTAGCTTCCCAAAGTGCTGGGATTACAGGTGTGGGCCACTATGCCTGGTCTTATGTTTTCTTAAAAATTAAAAAGCCCATATACATATATTAAAACATGGATGACTGTACCTCCAGACTGCTAGCAGTAGCTCTCTCTGGGGCTTTTTTACTATATGCAGGTTTTACAGTGAGCTCATGTTATTTTTACACATAGCAAGAACAGAAGAGATTTCCAATTCTGAGAGTGAAAAAAAATGACCATAATACTTGAATGGTACCCAAGTGCCCTCTTCTCTCAGTTACAATAGTTGGCCCGACTTAGTGAAATACTACTGGTTTTTCATCCCGAGTCTAAGAAACAGACTAGAATCGTTGTGGCTGACTGAGCCAGCCAGCCTTTGTGCTCTCCCTCCCAAATGCTGTGTTCTTGGCATGTATCTCCAGCCTCCCAAGTTGACACTAAGTGACATTTACTGCCAGCCATCTTAGAGTTGTGGACTAAACTGGCCTGGACCTTGGATTTCTATTAATGCCTGCTAATGCTTCTCGTGCAGACTTGGTATAAATCTTGCCAGAGTCTGTACGTTCAGTAGTATCTGTCTAAGAGTTTCAGCTGTTTGTCTTTAAAGTTGGAGAGGTGCTATTTAAGTGCGATATTTCTAGTAAGCCTACAGGAATTGACATTTTTGGCTTTTTTCCCATCCAGATCACCAAATGAAAGTGTAAATTGCATTTCTGCTTTGAATTTATATGCAAGATTCTAGGGTGTTATTTATGTAAAGAATTGTTTAATCAGCCGTGAATTGGGGACTTCAAACATTTTAACCATATGCTGCCAGATTGTTCATCATAAAATTTCCTTCTCTCTCCCAGAAACCGGCGAGAGTTTGGCAAGCGAGTTCCTGTTCTCCGATGTGTGTAGGGTGGAGAGTGGGGAGAACTGCTCCTCTCCTGCACCCAGAGAAGGTAGGACCTCCTAACTGTAAGCCCCATGTTAATATCGGACTCCTCCAGAGGCTTAGCTGATGCAGGTGATGTTGGAAGAAGATTAAATTTACTGCTCAGGAGTAAGGCTATAGCAAAGGGGAAAGGCTGAGAAAGAGGAGGGAGATGAAGGGAAAAG
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TAGAAGTGTTCCTCACAGCATTATTTGTTATGACATATAATTGGAAACATCTTGACTGTTTTTAAAAAACATATTGGTTATGTTAATCATGTTTTTCCCATATAGTGAAATACCAGGTGATCATTTTTGACAGGAAAATGTTCCTGATGGCTTGGTGAAAGGCTGGTTATGTGCCAGTATTATGGTCTAATATTTTTGTAAACAATATATATCTATAAATTGCATTTTTTAAGGCCAGAAGGAATTAAGCTATTGAGCGAATGTCTCTAGATGGTGAATTATTAGTGACTTTTTTTCCTTTGTGCTTTTTTTTGTTTTCCAAGTTTTCTCCATTGAACATGTATAATTTTCCAATTAGAAGAAAGCTTTTCTTTTATATAAATAATACTTATTGATTGTTTTAAAATCAGAAACTATAGATGAGTGAAAAGGAAAAAATCGCTTGTCATTTCTATGATTTGGAGCCTGTGTAATCTCTGCGGTCCTTAACCACAGAAAACAAGTGCCATTTGTTTGTTGTCTGAAGTTGCGCTTACTTGCCACTTTATATTGAGCTGCTGGAAAACATTTAACCAACATTAACAGCAACACTTTGCCTTCTGTCATATTGTATTGACTAAAATCCCTCTTCCTTGCTTCCCTTTAAGTATCCTACTCTACCCAATGCCCTTCACAGAACTAGTCTCAGAACACAGATTGGTGTCAAGGAGGCAGAAAAGCCAATCGACCGGAAAATGACCTCAGATGAAAAATTCTAAATTGGAAGGGACTCAGAGATCAGCTGTCTCAGTCCACTTATTTTACAGATGAGGAAACAGATCCAGAGAGCTTAGATGGCTTGGCCGACATCTTGCAACAAATTAAAAGCAGTCAGGATTCAACCCTGTCCCCTGACTCACTTCATGGTGCAGTCACACCCCAAAGCCACAGTGGAGACCAAACCTTCTGTACAGGATTAGACAGCAGCCAGAGGCCATGCTAAAAACTAGCCTCAGGTCTAAGAGTAACTTCAGAGAGCTCTCTCCCCACACTCCCCACCATTCTCCCAGTCAAGTATCTGTGACTGTAGCTCTTGGAAAACTAGCCATCATCCTCCCATACCTATATGTACCTACAAGGATCCTCCATTCCTCAGGAAGCCAACTTCTTGCAAAGAGCAGGTTCCTTAGCAGAGGGCAAGCCTGGATTGTGAAGGCACTGTGACCTGCAGGGGTCTTACCCTCGCAATGTTAACGTCACTAATGTCCCTGCGATACACCAGCTATGTGACCCTGCCCCAGTCTCTTGATCAGGAAATTGATGATAATTACTATTTACTGTACTTACTGAGCATATGGATGCCAGTGTGCTAAGCACTGTGCGTACGTGGTTTACTTATTCTTCATAACAACTCTACATCCTCCAGTCTGCAAATGAGGAAATGGAGACTCAGAGGGGATGAGGAAAGTGCCTAGCCCGAGATCATACGGTGGACAGTAGCTGAGCTGAGATTTGAATTTACATCTAAGTCCAGAGTTCTTGCCACTGACGCTGGCTTGTAGTACGTCTGCCTTCCCACCAGACACTGGGCTGCAGGAGGGCAGGGACCAGGGTGGCTGGCTCTTCATAAACTCAATTCAGTACCTTCTAAATGAATGGATGCCAAGACCCTCATCACTTTCCTCTCCCTTTGTCTCTGAAACTCATTGGCACAAGCATGTATTTTCTCTATTTCCAGTCCCTCTAAATGGCTCTGGATACTACTTGAAGTTGCTATTGTTTCCTGCTTCCTCTTCTGTGTTTATTTTTCCTCATTTTTACCATCTCCGTTTCACTGTGAAGCCAGGGAAGATGTTCAGTGTTAAGATCATATGTAGTGCTTTTGAGTGTCTAAGAGGGCAAACTCTCTATAAACCAAGTTTGCATTATGGGATAGTGATGTACATCTAACATCAAGGCTTCTTAAAATTCTTTTTGTTTGTTTTCAAAGCTTTTTGATTTAGTGTACAGAGAAGAGACTTTGCTTAATGTCATTAAAAGTGTCACTCGCAATGGACGGTCCATCATCCCGACAGCAGTTCTGGCTCTGATCCTCGTTTACCTGTTCTCAATAGTGGGCTATCTTTTCTTCAAGGATGACTTTATCTTGGAAGTAGATAGGCTGCCCAATGAAACAGCTGTTCCAGGTGGGTTTGGGATCTTCTGATCTTTTTAATGCTAAAAGATTATTTCCTGATTATAACTGAACTAAAGAAAATAACGACTTTAGTAATGCAGATATCTCCCCATTGTATCTCCCTAACACGCAGAGTGTGAATTTCAAATACAGGTCTTCATTCTCACAATGAATGTGGCAATGTGGCATATCAAATGCTAAGAGTGGGTGACCAGATCTGACATTTATTTATTCACTAACATCATCTTTTAAACTAGTGCAACTTTTTTGTAAAGCAGTGACCATACATATTGAGAGCGTTGGAGTATGCATCCCTTTAACTGAGTAAATCTACTTCTAGGATCAATACTTAAAGAAAAAAAGGCTGCCGACTGTGCACGTAGAAACAGACATATATGGGAGAACGTTCGCTGCAGTGTACAGTTGGAAGCAGTGTAAATGTTCGGGGGTGTTTCATCAGATCATGGTACATCCATGAGGTGGGGTGCCTTGCACATAGGTACATCTTTAGAAACCTCCATGGAAAAATACCCACAAGATGTAGTTGGAAATGGCAGAAGGATAACTATAGTAGGATCACATGTATGTCTTTTTTTTTTTTTTTTTCGAGACAGGATCTCACTCTGTCTCCCAGGCTGATGTGCAGTGGTATGATTTCACCTCACTGCAACCTCCAACCTCCCGAGCTCAAGCAATCCTCCCACCTCAGCCTCCCCAGTAGCTGAAACTGCAGGCGCCTGCCACTGCATGTGGCTAATTGTATTTTTTGTAGAGATAGGTTCTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAGGCGATCCCCCAGCTTTAGCTTCCCAAAGTGCTGGGATTACAGGTGTGGGCCACTATGCCTGGTCTTATGTTTTCTTAAAAATTAAAAAGCCCATATACATATATTAAAACATGGATGACTGTACCTCCAGACTGCTAGCAGTAGCTCTCTCTGGGGCTTTTTTACTATATGCAGGTTTTACAGTGAGCTCATGTTATTTTTACACATAGCAAGAACAGAAGAGATTTCCAATTCTGAGAGTGAAAAAAAATGACCATAATACTTGAATGGTACCCAAGTGCCCTCTTCTCTCAGTTACAATAGTTGGCCCGACTTAGTGAAATACTACTGGTTTTTCATCCCGAGTCTAAGAAACAGACTAGAATCGTTGTGGCTGACTGAGCCAGCCAGCCTTTGTGCTCTCCCTCCCAAATGCTGTGTTCTTGGCATGTATCTCCAGCCTCCCAAGTTGACACTAAGTGACATTTACTGCCAGCCATCTTAGAGTTGTGGACTAAACTGGCCTGGACCTTGGATTTCTATTAATGCCTGCTAATGCTTCTCGTGCAGACTTGGTATAAATCTTGCCAGAGTCTGTACGTTCAGTAGTATCTGTCTAAGAGTTTCAGCTGTTTGTCTTTAAAGTTGGAGAGGTGCTATTTAAGTGCGATATTTCTAGTAAGCCTACAGGAATTGACATTTTTGGCTTTTTTCCCATCCAGATCACCAAATGAAAGTGTAAATTGCATTTCTGCTTTGAATTTATATGCAAGATTCTAGGGTGTTATTTATGTAAAGAATTGTTTAATCAGCCGTGAATTGGGGACTTCAAACATTTTAACCATATGCTGCCAGATTGTTCATCATAAAATTTCCTTCTCTCTCCCAGAAACCGGCGAGAGTTTGGCAAGCGAGTTCCTGTTCTCCGATGTGTGTAGGGTGGAGAGTGGGGAGAACTGCTCCTCTCCTGCACCCAGAGAAGGTAGGACCTCCTAACTGTAAGCCCCATGTTAATATCGGACTCCTCCAGAGGCTTAGCTGATGCAGGTGATGTTGGAAGAAGATTAAATTTACTGCTCAGGAGTAAGGCTATAGCAAAGGGGAAAGGCTGAGAAAGAGGAGGGAGATGAAGGGAAAAG
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Task1_train_5890
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A variant found in Chromosome 3 affects ITPR1, LOC126806590 (inositol 1,4,5-trisphosphate receptor type 1| MED14-independent group 3 enhancer GRCh37_chr3:4855759-4856958). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; not provided
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TTACACATAGCAAGAACAGAAGAGATTTCCAATTCTGAGAGTGAAAAAAAATGACCATAATACTTGAATGGTACCCAAGTGCCCTCTTCTCTCAGTTACAATAGTTGGCCCGACTTAGTGAAATACTACTGGTTTTTCATCCCGAGTCTAAGAAACAGACTAGAATCGTTGTGGCTGACTGAGCCAGCCAGCCTTTGTGCTCTCCCTCCCAAATGCTGTGTTCTTGGCATGTATCTCCAGCCTCCCAAGTTGACACTAAGTGACATTTACTGCCAGCCATCTTAGAGTTGTGGACTAAACTGGCCTGGACCTTGGATTTCTATTAATGCCTGCTAATGCTTCTCGTGCAGACTTGGTATAAATCTTGCCAGAGTCTGTACGTTCAGTAGTATCTGTCTAAGAGTTTCAGCTGTTTGTCTTTAAAGTTGGAGAGGTGCTATTTAAGTGCGATATTTCTAGTAAGCCTACAGGAATTGACATTTTTGGCTTTTTTCCCATCCAGATCACCAAATGAAAGTGTAAATTGCATTTCTGCTTTGAATTTATATGCAAGATTCTAGGGTGTTATTTATGTAAAGAATTGTTTAATCAGCCGTGAATTGGGGACTTCAAACATTTTAACCATATGCTGCCAGATTGTTCATCATAAAATTTCCTTCTCTCTCCCAGAAACCGGCGAGAGTTTGGCAAGCGAGTTCCTGTTCTCCGATGTGTGTAGGGTGGAGAGTGGGGAGAACTGCTCCTCTCCTGCACCCAGAGAAGGTAGGACCTCCTAACTGTAAGCCCCATGTTAATATCGGACTCCTCCAGAGGCTTAGCTGATGCAGGTGATGTTGGAAGAAGATTAAATTTACTGCTCAGGAGTAAGGCTATAGCAAAGGGGAAAGGCTGAGAAAGAGGAGGGAGATGAAGGGAAAAGAAGGTTACACCTGAAGAAAAGATCTGATGTGATTCAGCCGATTTATACTGAGTGCCCGCCATTTGCCAGGGACTGTGGTGTACTCTAAGAGACAGTAATGTAGTGGAGGGTGCGGGCAGGCCAAATGGTGATTGCTAGAGAGTTGCCCAATGCTGGGAATAAGGATGGAATACAGAAGTTAGGCACCCGGCCTACTACTGGGCTAAGCGTATCATCAAGAAAGTGATATCCAAACTATAAAAGGAGACTCTTGATATTCCAAGGAGAGGGAATAGTACATCTAAAGGCTTTAAAGGTAAAAAGAAAAAAACAGCAAGTTTGGGGAGATAATGATTATAAGGAAGGAGAGTGGCAAGAAATGAAGCCACAGATACAAACAAAGGGCTAGATCATGAAGGATCTTCTATGTCAGGCGTAGGAGGTTAAACTTCGTCCAGAGGATGGTCAGGGGTTGTTGGAAGATGAGTGATGAAATCTGTGTTTTAGCAAGACCCTCTGCAGCTGGAGAAAGGAATGAGGCACACAGCAAGGCATGGCTCTTACTGCATAAACCAGTGAGAATGAACAGCCTCCAATGTAAAGCAGTTGATCCAGAGGCCCTGCCGTGAAATATCCCTGGATATAGTCCTCACACCATTCCCAGTGAGGAACCTGTGTCCTGTGGCATAACCCTCATCTGAGAGACAAGAGGCCTGTGACTCAGAGTTGCGAAGCAACTCATCTGACATGAAAAGACTGTTTGCGGCTGGGTCTGGGGTTTAAAACCTGAAAAGGACAGGGCATGTTTTAGATCCCACAGAGGGAGAGCAATACTACCATAGCTGGAGAAATTAGCGGGGGTTAGCGATGAAAACAGTTGCCCCAGACGACTTTAGCTTTTGAAAGAAAATAAGAAAATTCTTGGCTCTTGATTCCTTAATTTTATTCTTTCGTGTGCCTGGTGAGATGGCATTCAGGAAACAGGATTTCAAAATCCCGGTCTCTCTTTTCTCCTCACGTTTTCTCTCTGTTGTTACTTGCCGTGTTCACAGAGCTGGTCCCTGCAGAAGAGACGGAACAGGATAAAGAGCACACATGTGAGACGCTGCTGATGTGCATTGTCACTGTGCTGAGTCACGGGCTGCGGAGCGGGGGTGGAGTAGGAGATGTACTCAGGAAGCCGTCCAAAGAGGTAAATTAATCCCGAGGGGAAGGAAGGGCAAAGGGGGCGGGTGGGGTGGTTGGTGGGAGCACCATGCAGCGGTGTTGAGTGTAAACTGAAGACGCAGAGGAAGAGCTGGGAGTAGGGCTGAGTAGCTGCGGAACTAGCTCATCAGGCTCCTTTCCTCTCTATCACGTGAGGTGGTGCCGCAAAGTCAGCTGCGTGGAAAGGGTTGGCTTTGGCTCTCTGTTCAGTAGACTTAGGGACTGTTTCCATCAGGGTTAGGCCTGATCCACCTGAACGCACAGTGAATATCCCTCCTGGCTGTGTCACACCACACTTGGAGAAGTCGCAATTGAGACAGGGGACATGAAAAGAGATGCAGTTTTCAGTTTAAAAGTTGAATGCCCAATTTAATTTCTACCCAAGTAGATGAGGTCTCACTTGAGCTGTGCCCCAGGCTCCGCAGACCAAAGGGTCGCAAGGGACCCAGACTGATCCAGACACCTCTCTTTTCCAGGAACCCCTGTTTGCTGCTAGAGTTATTTATGACCTCTTGTTCTTCTTCATGGTCATCATCATTGTTCTTAACCTGATTTTTGGGGTTATCATTGACACTTTTGCTGACCTGAGGAGTGAGAAGCAGAAGAAGGAAGAGATCTTGAAGACCACGTGCTTTATCTGTGGTGAGTGTCGCTGGCCAGCTCCAGCAAGGGCGTGAAGGCCCAGCGTGGCAGAGGCATGTGGATACTGCGAGGGTGTGATGGGCGGGGTGCCTGCCCAGTTATGCGGGAGGGGGCACCGGCTGCTGCTTCGTCTTGACTCTTCTACCCTCTGCCGTGAGTGAGGCTCTCCTTGGCCTTTATTCTGCTGGGAAGTATTTACAGACCTGGGTTCTGACTGAGCTTCTACCACTTAACTAACTGTGTAACATCATTTAGTCATTTAACATCTTTAATCCTTCTTTCTTCATCTGTAAAATGGGTACAATAACATGTCCTTCTCTGCATTATTGTGAGAATTATGAGAGACAGCGTATGTAACACTCCTAGCTAGAACCTGGCACACTATAGGCACGGGAGGAGAAGTAGTGAACGGCTACGTAAAAGAGGTGCATGGACACCAAACAAATCATTTTCAGTATAACTACAGGAAAATATTTGTAAATGTAAACTAATCATGGAGGAATCTGGGGAGCTGAGTAATCATTTCAGGATTATTCATAATATAGCTACTAAATATATAAATTTCCTAGTGGTATGTATGCTAAAAAAAAAGATCAGTTTCCAATTAAAGACTTAAATTCTTTGCTTTTTGCCCCCTTAAAACCTTTTTAAGCTTTTTGCTTTGGCATAATTTCAGAGTTATAGAAAAGACATGACTATCCAAAGAATTTCTATATATTCTTCACCCAGAATCCCCAAATATTAATATTTTATCTCATTTGCTTTATACACACACACACACACACACACACACACACATTTTCTAATGTGAGTGGCTGACAGTGATGCTTTCTTATCCCTAAATATTTTAGTACACATTTCCTAAAAACAAGAACATTCTCTTGTGTATCTACAGTATAATTATCAAAATTGGGAAATTAAAACAGATCCAATACTGTTATCTCATCTACAGACCTTATTCAAATTTCACCCTTCATTCCAATAATGTCCTTTGCAAATCCCACCTCCTGCGGGGCTTCAGTCACCATGCCTCGTGAGCCTCCGCTGACACTGTTGAAGAATGTAGGTCAATTATTTTGTAGAATGTCCCTTGATTTGAGTTTGTCTGATGTTTGCTCATGGTAAGATTGAGGGTATGTATTTTCCACAGGAATATCAAAGACATGCTGTTGTGTTCTTCTCATTGCATCGTATCAGGAGGCATGTAATGCCAGTTCATCTTGTAACTAGTATCTCGGCTCACTGTAACCTCCACCTCCCAGGGTTCAAGCAATTCTCGTGCTTCAGCCACCTGAGTAGCTAGGATTACAGGTGCCTCTCACCACAACTGGCTGATTTTTTGTATTTGAG
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TTACACATAGCAAGAACAGAAGAGATTTCCAATTCTGAGAGTGAAAAAAAATGACCATAATACTTGAATGGTACCCAAGTGCCCTCTTCTCTCAGTTACAATAGTTGGCCCGACTTAGTGAAATACTACTGGTTTTTCATCCCGAGTCTAAGAAACAGACTAGAATCGTTGTGGCTGACTGAGCCAGCCAGCCTTTGTGCTCTCCCTCCCAAATGCTGTGTTCTTGGCATGTATCTCCAGCCTCCCAAGTTGACACTAAGTGACATTTACTGCCAGCCATCTTAGAGTTGTGGACTAAACTGGCCTGGACCTTGGATTTCTATTAATGCCTGCTAATGCTTCTCGTGCAGACTTGGTATAAATCTTGCCAGAGTCTGTACGTTCAGTAGTATCTGTCTAAGAGTTTCAGCTGTTTGTCTTTAAAGTTGGAGAGGTGCTATTTAAGTGCGATATTTCTAGTAAGCCTACAGGAATTGACATTTTTGGCTTTTTTCCCATCCAGATCACCAAATGAAAGTGTAAATTGCATTTCTGCTTTGAATTTATATGCAAGATTCTAGGGTGTTATTTATGTAAAGAATTGTTTAATCAGCCGTGAATTGGGGACTTCAAACATTTTAACCATATGCTGCCAGATTGTTCATCATAAAATTTCCTTCTCTCTCCCAGAAACCGGCGAGAGTTTGGCAAGCGAGTTCCTGTTCTCCGATGTGTGTAGGGTGGAGAGTGGGGAGAACTGCTCCTCTCCTGCACCCAGAGAAGGTAGGACCTCCTAACTGTAAGCCCCATGTTAATATCGGACTCCTCCAGAGGCTTAGCTGATGCAGGTGATGTTGGAAGAAGATTAAATTTACTGCTCAGGAGTAAGGCTATAGCAAAGGGGAAAGGCTGAGAAAGAGGAGGGAGATGAAGGGAAAAGAAGGTTACACCTGAAGAAAAGATCTGATGTGATTCAGCCGATTTATACTGAGTGCCCGCCATTTGCCAGGGACTGTGGTGTACTCTAAGAGACAGTAATGTAGTGGAGGGTGCGGGCAGGCCAAATGGTGATTGCTAGAGAGTTGCCCAATGCTGGGAATAAGGATGGAATACAGAAGTTAGGCACCCGGCCTACTACTGGGCTAAGCGTATCATCAAGAAAGTGATATCCAAACTATAAAAGGAGACTCTTGATATTCCAAGGAGAGGGAATAGTACATCTAAAGGCTTTAAAGGTAAAAAGAAAAAAACAGCAAGTTTGGGGAGATAATGATTATAAGGAAGGAGAGTGGCAAGAAATGAAGCCACAGATACAAACAAAGGGCTAGATCATGAAGGATCTTCTATGTCAGGCGTAGGAGGTTAAACTTCGTCCAGAGGATGGTCAGGGGTTGTTGGAAGATGAGTGATGAAATCTGTGTTTTAGCAAGACCCTCTGCAGCTGGAGAAAGGAATGAGGCACACAGCAAGGCATGGCTCTTACTGCATAAACCAGTGAGAATGAACAGCCTCCAATGTAAAGCAGTTGATCCAGAGGCCCTGCCGTGAAATATCCCTGGATATAGTCCTCACACCATTCCCAGTGAGGAACCTGTGTCCTGTGGCATAACCCTCATCTGAGAGACAAGAGGCCTGTGACTCAGAGTTGCGAAGCAACTCATCTGACATGAAAAGACTGTTTGCGGCTGGGTCTGGGGTTTAAAACCTGAAAAGGACAGGGCATGTTTTAGATCCCACAGAGGGAGAGCAATACTACCATAGCTGGAGAAATTAGCGGGGGTTAGCGATGAAAACAGTTGCCCCAGACGACTTTAGCTTTTGAAAGAAAATAAGAAAATTCTTGGCTCTTGATTCCTTAATTTTATTCTTTCGTGTGCCTGGTGAGATGGCATTCAGGAAACAGGATTTCAAAATCCCGGTCTCTCTTTTCTCCTCACGTTTTCTCTCTGTTGTTACTTGCCGTGTTCACAGAGCTGGTCCCTGCAGAAGAGACGGAACAGGATAAAGAGCACACATGTGAGACGCTGCTGATGTGCATTGTCACTGTGCTGAGTCACGGGCTGCGGAGCCGGGGTGGAGTAGGAGATGTACTCAGGAAGCCGTCCAAAGAGGTAAATTAATCCCGAGGGGAAGGAAGGGCAAAGGGGGCGGGTGGGGTGGTTGGTGGGAGCACCATGCAGCGGTGTTGAGTGTAAACTGAAGACGCAGAGGAAGAGCTGGGAGTAGGGCTGAGTAGCTGCGGAACTAGCTCATCAGGCTCCTTTCCTCTCTATCACGTGAGGTGGTGCCGCAAAGTCAGCTGCGTGGAAAGGGTTGGCTTTGGCTCTCTGTTCAGTAGACTTAGGGACTGTTTCCATCAGGGTTAGGCCTGATCCACCTGAACGCACAGTGAATATCCCTCCTGGCTGTGTCACACCACACTTGGAGAAGTCGCAATTGAGACAGGGGACATGAAAAGAGATGCAGTTTTCAGTTTAAAAGTTGAATGCCCAATTTAATTTCTACCCAAGTAGATGAGGTCTCACTTGAGCTGTGCCCCAGGCTCCGCAGACCAAAGGGTCGCAAGGGACCCAGACTGATCCAGACACCTCTCTTTTCCAGGAACCCCTGTTTGCTGCTAGAGTTATTTATGACCTCTTGTTCTTCTTCATGGTCATCATCATTGTTCTTAACCTGATTTTTGGGGTTATCATTGACACTTTTGCTGACCTGAGGAGTGAGAAGCAGAAGAAGGAAGAGATCTTGAAGACCACGTGCTTTATCTGTGGTGAGTGTCGCTGGCCAGCTCCAGCAAGGGCGTGAAGGCCCAGCGTGGCAGAGGCATGTGGATACTGCGAGGGTGTGATGGGCGGGGTGCCTGCCCAGTTATGCGGGAGGGGGCACCGGCTGCTGCTTCGTCTTGACTCTTCTACCCTCTGCCGTGAGTGAGGCTCTCCTTGGCCTTTATTCTGCTGGGAAGTATTTACAGACCTGGGTTCTGACTGAGCTTCTACCACTTAACTAACTGTGTAACATCATTTAGTCATTTAACATCTTTAATCCTTCTTTCTTCATCTGTAAAATGGGTACAATAACATGTCCTTCTCTGCATTATTGTGAGAATTATGAGAGACAGCGTATGTAACACTCCTAGCTAGAACCTGGCACACTATAGGCACGGGAGGAGAAGTAGTGAACGGCTACGTAAAAGAGGTGCATGGACACCAAACAAATCATTTTCAGTATAACTACAGGAAAATATTTGTAAATGTAAACTAATCATGGAGGAATCTGGGGAGCTGAGTAATCATTTCAGGATTATTCATAATATAGCTACTAAATATATAAATTTCCTAGTGGTATGTATGCTAAAAAAAAAGATCAGTTTCCAATTAAAGACTTAAATTCTTTGCTTTTTGCCCCCTTAAAACCTTTTTAAGCTTTTTGCTTTGGCATAATTTCAGAGTTATAGAAAAGACATGACTATCCAAAGAATTTCTATATATTCTTCACCCAGAATCCCCAAATATTAATATTTTATCTCATTTGCTTTATACACACACACACACACACACACACACACACATTTTCTAATGTGAGTGGCTGACAGTGATGCTTTCTTATCCCTAAATATTTTAGTACACATTTCCTAAAAACAAGAACATTCTCTTGTGTATCTACAGTATAATTATCAAAATTGGGAAATTAAAACAGATCCAATACTGTTATCTCATCTACAGACCTTATTCAAATTTCACCCTTCATTCCAATAATGTCCTTTGCAAATCCCACCTCCTGCGGGGCTTCAGTCACCATGCCTCGTGAGCCTCCGCTGACACTGTTGAAGAATGTAGGTCAATTATTTTGTAGAATGTCCCTTGATTTGAGTTTGTCTGATGTTTGCTCATGGTAAGATTGAGGGTATGTATTTTCCACAGGAATATCAAAGACATGCTGTTGTGTTCTTCTCATTGCATCGTATCAGGAGGCATGTAATGCCAGTTCATCTTGTAACTAGTATCTCGGCTCACTGTAACCTCCACCTCCCAGGGTTCAAGCAATTCTCGTGCTTCAGCCACCTGAGTAGCTAGGATTACAGGTGCCTCTCACCACAACTGGCTGATTTTTTGTATTTGAG
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Task1_train_5891
|
A variant affecting Chromosome 3, within the gene ITPR1, LOC126806590 (inositol 1,4,5-trisphosphate receptor type 1| MED14-independent group 3 enhancer GRCh37_chr3:4855759-4856958), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Spinocerebellar ataxia type 15/16
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ATTTTAACCATATGCTGCCAGATTGTTCATCATAAAATTTCCTTCTCTCTCCCAGAAACCGGCGAGAGTTTGGCAAGCGAGTTCCTGTTCTCCGATGTGTGTAGGGTGGAGAGTGGGGAGAACTGCTCCTCTCCTGCACCCAGAGAAGGTAGGACCTCCTAACTGTAAGCCCCATGTTAATATCGGACTCCTCCAGAGGCTTAGCTGATGCAGGTGATGTTGGAAGAAGATTAAATTTACTGCTCAGGAGTAAGGCTATAGCAAAGGGGAAAGGCTGAGAAAGAGGAGGGAGATGAAGGGAAAAGAAGGTTACACCTGAAGAAAAGATCTGATGTGATTCAGCCGATTTATACTGAGTGCCCGCCATTTGCCAGGGACTGTGGTGTACTCTAAGAGACAGTAATGTAGTGGAGGGTGCGGGCAGGCCAAATGGTGATTGCTAGAGAGTTGCCCAATGCTGGGAATAAGGATGGAATACAGAAGTTAGGCACCCGGCCTACTACTGGGCTAAGCGTATCATCAAGAAAGTGATATCCAAACTATAAAAGGAGACTCTTGATATTCCAAGGAGAGGGAATAGTACATCTAAAGGCTTTAAAGGTAAAAAGAAAAAAACAGCAAGTTTGGGGAGATAATGATTATAAGGAAGGAGAGTGGCAAGAAATGAAGCCACAGATACAAACAAAGGGCTAGATCATGAAGGATCTTCTATGTCAGGCGTAGGAGGTTAAACTTCGTCCAGAGGATGGTCAGGGGTTGTTGGAAGATGAGTGATGAAATCTGTGTTTTAGCAAGACCCTCTGCAGCTGGAGAAAGGAATGAGGCACACAGCAAGGCATGGCTCTTACTGCATAAACCAGTGAGAATGAACAGCCTCCAATGTAAAGCAGTTGATCCAGAGGCCCTGCCGTGAAATATCCCTGGATATAGTCCTCACACCATTCCCAGTGAGGAACCTGTGTCCTGTGGCATAACCCTCATCTGAGAGACAAGAGGCCTGTGACTCAGAGTTGCGAAGCAACTCATCTGACATGAAAAGACTGTTTGCGGCTGGGTCTGGGGTTTAAAACCTGAAAAGGACAGGGCATGTTTTAGATCCCACAGAGGGAGAGCAATACTACCATAGCTGGAGAAATTAGCGGGGGTTAGCGATGAAAACAGTTGCCCCAGACGACTTTAGCTTTTGAAAGAAAATAAGAAAATTCTTGGCTCTTGATTCCTTAATTTTATTCTTTCGTGTGCCTGGTGAGATGGCATTCAGGAAACAGGATTTCAAAATCCCGGTCTCTCTTTTCTCCTCACGTTTTCTCTCTGTTGTTACTTGCCGTGTTCACAGAGCTGGTCCCTGCAGAAGAGACGGAACAGGATAAAGAGCACACATGTGAGACGCTGCTGATGTGCATTGTCACTGTGCTGAGTCACGGGCTGCGGAGCGGGGGTGGAGTAGGAGATGTACTCAGGAAGCCGTCCAAAGAGGTAAATTAATCCCGAGGGGAAGGAAGGGCAAAGGGGGCGGGTGGGGTGGTTGGTGGGAGCACCATGCAGCGGTGTTGAGTGTAAACTGAAGACGCAGAGGAAGAGCTGGGAGTAGGGCTGAGTAGCTGCGGAACTAGCTCATCAGGCTCCTTTCCTCTCTATCACGTGAGGTGGTGCCGCAAAGTCAGCTGCGTGGAAAGGGTTGGCTTTGGCTCTCTGTTCAGTAGACTTAGGGACTGTTTCCATCAGGGTTAGGCCTGATCCACCTGAACGCACAGTGAATATCCCTCCTGGCTGTGTCACACCACACTTGGAGAAGTCGCAATTGAGACAGGGGACATGAAAAGAGATGCAGTTTTCAGTTTAAAAGTTGAATGCCCAATTTAATTTCTACCCAAGTAGATGAGGTCTCACTTGAGCTGTGCCCCAGGCTCCGCAGACCAAAGGGTCGCAAGGGACCCAGACTGATCCAGACACCTCTCTTTTCCAGGAACCCCTGTTTGCTGCTAGAGTTATTTATGACCTCTTGTTCTTCTTCATGGTCATCATCATTGTTCTTAACCTGATTTTTGGGGTTATCATTGACACTTTTGCTGACCTGAGGAGTGAGAAGCAGAAGAAGGAAGAGATCTTGAAGACCACGTGCTTTATCTGTGGTGAGTGTCGCTGGCCAGCTCCAGCAAGGGCGTGAAGGCCCAGCGTGGCAGAGGCATGTGGATACTGCGAGGGTGTGATGGGCGGGGTGCCTGCCCAGTTATGCGGGAGGGGGCACCGGCTGCTGCTTCGTCTTGACTCTTCTACCCTCTGCCGTGAGTGAGGCTCTCCTTGGCCTTTATTCTGCTGGGAAGTATTTACAGACCTGGGTTCTGACTGAGCTTCTACCACTTAACTAACTGTGTAACATCATTTAGTCATTTAACATCTTTAATCCTTCTTTCTTCATCTGTAAAATGGGTACAATAACATGTCCTTCTCTGCATTATTGTGAGAATTATGAGAGACAGCGTATGTAACACTCCTAGCTAGAACCTGGCACACTATAGGCACGGGAGGAGAAGTAGTGAACGGCTACGTAAAAGAGGTGCATGGACACCAAACAAATCATTTTCAGTATAACTACAGGAAAATATTTGTAAATGTAAACTAATCATGGAGGAATCTGGGGAGCTGAGTAATCATTTCAGGATTATTCATAATATAGCTACTAAATATATAAATTTCCTAGTGGTATGTATGCTAAAAAAAAAGATCAGTTTCCAATTAAAGACTTAAATTCTTTGCTTTTTGCCCCCTTAAAACCTTTTTAAGCTTTTTGCTTTGGCATAATTTCAGAGTTATAGAAAAGACATGACTATCCAAAGAATTTCTATATATTCTTCACCCAGAATCCCCAAATATTAATATTTTATCTCATTTGCTTTATACACACACACACACACACACACACACACACATTTTCTAATGTGAGTGGCTGACAGTGATGCTTTCTTATCCCTAAATATTTTAGTACACATTTCCTAAAAACAAGAACATTCTCTTGTGTATCTACAGTATAATTATCAAAATTGGGAAATTAAAACAGATCCAATACTGTTATCTCATCTACAGACCTTATTCAAATTTCACCCTTCATTCCAATAATGTCCTTTGCAAATCCCACCTCCTGCGGGGCTTCAGTCACCATGCCTCGTGAGCCTCCGCTGACACTGTTGAAGAATGTAGGTCAATTATTTTGTAGAATGTCCCTTGATTTGAGTTTGTCTGATGTTTGCTCATGGTAAGATTGAGGGTATGTATTTTCCACAGGAATATCAAAGACATGCTGTTGTGTTCTTCTCATTGCATCGTATCAGGAGGCATGTAATGCCAGTTCATCTTGTAACTAGTATCTCGGCTCACTGTAACCTCCACCTCCCAGGGTTCAAGCAATTCTCGTGCTTCAGCCACCTGAGTAGCTAGGATTACAGGTGCCTCTCACCACAACTGGCTGATTTTTTGTATTTGAGTAGAGATGGGATTTCACTATGTTGCTGAGAGGCTGGTCTTGAACTACTGAGCTCAGGCAATCTGCCCGTTTTAGCTTCCCAAAGTGTTAGGATTACAGGCATGAGCCACTGCGCCCAGCCGTGATACTAACGTTGATCATTTGGTTAAGGTGCTAATTGCCAGGTTTTTCCAGTAACTCCATAAAGTTACTTTTTTGGAGAGACACTCTGTAAATATCGTGCTATTCCTTAAACTTTCACCCCTCAGCTTTAGCATTCATTGATGATGCTTGGCTAACTCTATTATGATGATGGTTGCCCAATGATGATTTTTATGTTATTATTATTTCTACATTTCTTTATTGGCTTTTTATTGTAAGAAAGAATTTTTTCTTCTCCCCACATATGTGTTTATATTTCTGTGTTTGTATTTGTAACTACATGGACTTGTGGATTTTTATTTTATTCAATGGGCTATTTATTTTGATGTTCAAATTGCTTCAGATGTGGCCAGTGAGAGCCCTTTCCAGCTGACTCCTGGGTTTAGTCATGTCATCATCGTTTTCTATGTACTTTCTTACTTTTTTGGCATCATAATATATTCCAGGCTTAGGCTCACCTTGTACATTTCCTGA
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ATTTTAACCATATGCTGCCAGATTGTTCATCATAAAATTTCCTTCTCTCTCCCAGAAACCGGCGAGAGTTTGGCAAGCGAGTTCCTGTTCTCCGATGTGTGTAGGGTGGAGAGTGGGGAGAACTGCTCCTCTCCTGCACCCAGAGAAGGTAGGACCTCCTAACTGTAAGCCCCATGTTAATATCGGACTCCTCCAGAGGCTTAGCTGATGCAGGTGATGTTGGAAGAAGATTAAATTTACTGCTCAGGAGTAAGGCTATAGCAAAGGGGAAAGGCTGAGAAAGAGGAGGGAGATGAAGGGAAAAGAAGGTTACACCTGAAGAAAAGATCTGATGTGATTCAGCCGATTTATACTGAGTGCCCGCCATTTGCCAGGGACTGTGGTGTACTCTAAGAGACAGTAATGTAGTGGAGGGTGCGGGCAGGCCAAATGGTGATTGCTAGAGAGTTGCCCAATGCTGGGAATAAGGATGGAATACAGAAGTTAGGCACCCGGCCTACTACTGGGCTAAGCGTATCATCAAGAAAGTGATATCCAAACTATAAAAGGAGACTCTTGATATTCCAAGGAGAGGGAATAGTACATCTAAAGGCTTTAAAGGTAAAAAGAAAAAAACAGCAAGTTTGGGGAGATAATGATTATAAGGAAGGAGAGTGGCAAGAAATGAAGCCACAGATACAAACAAAGGGCTAGATCATGAAGGATCTTCTATGTCAGGCGTAGGAGGTTAAACTTCGTCCAGAGGATGGTCAGGGGTTGTTGGAAGATGAGTGATGAAATCTGTGTTTTAGCAAGACCCTCTGCAGCTGGAGAAAGGAATGAGGCACACAGCAAGGCATGGCTCTTACTGCATAAACCAGTGAGAATGAACAGCCTCCAATGTAAAGCAGTTGATCCAGAGGCCCTGCCGTGAAATATCCCTGGATATAGTCCTCACACCATTCCCAGTGAGGAACCTGTGTCCTGTGGCATAACCCTCATCTGAGAGACAAGAGGCCTGTGACTCAGAGTTGCGAAGCAACTCATCTGACATGAAAAGACTGTTTGCGGCTGGGTCTGGGGTTTAAAACCTGAAAAGGACAGGGCATGTTTTAGATCCCACAGAGGGAGAGCAATACTACCATAGCTGGAGAAATTAGCGGGGGTTAGCGATGAAAACAGTTGCCCCAGACGACTTTAGCTTTTGAAAGAAAATAAGAAAATTCTTGGCTCTTGATTCCTTAATTTTATTCTTTCGTGTGCCTGGTGAGATGGCATTCAGGAAACAGGATTTCAAAATCCCGGTCTCTCTTTTCTCCTCACGTTTTCTCTCTGTTGTTACTTGCCGTGTTCACAGAGCTGGTCCCTGCAGAAGAGACGGAACAGGATAAAGAGCACACATGTGAGACGCTGCTGATGTGCATTGTCACTGTGCTGAGTCACGGGCTGCGGAGCGGGGGTGGAGTAGGAGATGTACTCAGGAAGCCGTCCAAAGAGGTAAATTAATCCCGAGGGGAAGGAAGGGCAAAGGGGGCGGGTGGGGTGGTTGGTGGGAGCACCATGCAGCGGTGTTGAGTGTAAACTGAAGACGCAGAGGAAGAGCTGGGAGTAGGGCTGAGTAGCTGCGGAACTAGCTCATCAGGCTCCTTTCCTCTCTATCACGTGAGGTGGTGCCGCAAAGTCAGCTGCGTGGAAAGGGTTGGCTTTGGCTCTCTGTTCAGTAGACTTAGGGACTGTTTCCATCAGGGTTAGGCCTGATCCACCTGAACGCACAGTGAATATCCCTCCTGGCTGTGTCACACCACACTTGGAGAAGTCGCAATTGAGACAGGGGACATGAAAAGAGATGCAGTTTTCAGTTTAAAAGTTGAATGCCCAATTTAATTTCTACCCAAGTAGATGAGGTCTCACTTGAGCTGTGCCCCAGGCTCCGCAGACCAAAGGGTCGCAAGGGACCCAGACTGATCCAGACACCTCTCTTTTCCAGGAACCCCTGTTTGCTGCTAGAGTTATTTATGACCTCTTGTTCTTCTTCATGGTCATCATCATTGTTCTTAACCTGATTTTTGAGGTTATCATTGACACTTTTGCTGACCTGAGGAGTGAGAAGCAGAAGAAGGAAGAGATCTTGAAGACCACGTGCTTTATCTGTGGTGAGTGTCGCTGGCCAGCTCCAGCAAGGGCGTGAAGGCCCAGCGTGGCAGAGGCATGTGGATACTGCGAGGGTGTGATGGGCGGGGTGCCTGCCCAGTTATGCGGGAGGGGGCACCGGCTGCTGCTTCGTCTTGACTCTTCTACCCTCTGCCGTGAGTGAGGCTCTCCTTGGCCTTTATTCTGCTGGGAAGTATTTACAGACCTGGGTTCTGACTGAGCTTCTACCACTTAACTAACTGTGTAACATCATTTAGTCATTTAACATCTTTAATCCTTCTTTCTTCATCTGTAAAATGGGTACAATAACATGTCCTTCTCTGCATTATTGTGAGAATTATGAGAGACAGCGTATGTAACACTCCTAGCTAGAACCTGGCACACTATAGGCACGGGAGGAGAAGTAGTGAACGGCTACGTAAAAGAGGTGCATGGACACCAAACAAATCATTTTCAGTATAACTACAGGAAAATATTTGTAAATGTAAACTAATCATGGAGGAATCTGGGGAGCTGAGTAATCATTTCAGGATTATTCATAATATAGCTACTAAATATATAAATTTCCTAGTGGTATGTATGCTAAAAAAAAAGATCAGTTTCCAATTAAAGACTTAAATTCTTTGCTTTTTGCCCCCTTAAAACCTTTTTAAGCTTTTTGCTTTGGCATAATTTCAGAGTTATAGAAAAGACATGACTATCCAAAGAATTTCTATATATTCTTCACCCAGAATCCCCAAATATTAATATTTTATCTCATTTGCTTTATACACACACACACACACACACACACACACACATTTTCTAATGTGAGTGGCTGACAGTGATGCTTTCTTATCCCTAAATATTTTAGTACACATTTCCTAAAAACAAGAACATTCTCTTGTGTATCTACAGTATAATTATCAAAATTGGGAAATTAAAACAGATCCAATACTGTTATCTCATCTACAGACCTTATTCAAATTTCACCCTTCATTCCAATAATGTCCTTTGCAAATCCCACCTCCTGCGGGGCTTCAGTCACCATGCCTCGTGAGCCTCCGCTGACACTGTTGAAGAATGTAGGTCAATTATTTTGTAGAATGTCCCTTGATTTGAGTTTGTCTGATGTTTGCTCATGGTAAGATTGAGGGTATGTATTTTCCACAGGAATATCAAAGACATGCTGTTGTGTTCTTCTCATTGCATCGTATCAGGAGGCATGTAATGCCAGTTCATCTTGTAACTAGTATCTCGGCTCACTGTAACCTCCACCTCCCAGGGTTCAAGCAATTCTCGTGCTTCAGCCACCTGAGTAGCTAGGATTACAGGTGCCTCTCACCACAACTGGCTGATTTTTTGTATTTGAGTAGAGATGGGATTTCACTATGTTGCTGAGAGGCTGGTCTTGAACTACTGAGCTCAGGCAATCTGCCCGTTTTAGCTTCCCAAAGTGTTAGGATTACAGGCATGAGCCACTGCGCCCAGCCGTGATACTAACGTTGATCATTTGGTTAAGGTGCTAATTGCCAGGTTTTTCCAGTAACTCCATAAAGTTACTTTTTTGGAGAGACACTCTGTAAATATCGTGCTATTCCTTAAACTTTCACCCCTCAGCTTTAGCATTCATTGATGATGCTTGGCTAACTCTATTATGATGATGGTTGCCCAATGATGATTTTTATGTTATTATTATTTCTACATTTCTTTATTGGCTTTTTATTGTAAGAAAGAATTTTTTCTTCTCCCCACATATGTGTTTATATTTCTGTGTTTGTATTTGTAACTACATGGACTTGTGGATTTTTATTTTATTCAATGGGCTATTTATTTTGATGTTCAAATTGCTTCAGATGTGGCCAGTGAGAGCCCTTTCCAGCTGACTCCTGGGTTTAGTCATGTCATCATCGTTTTCTATGTACTTTCTTACTTTTTTGGCATCATAATATATTCCAGGCTTAGGCTCACCTTGTACATTTCCTGA
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Task1_train_5892
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Gene ITPR1, LOC126806590 (inositol 1,4,5-trisphosphate receptor type 1| MED14-independent group 3 enhancer GRCh37_chr3:4855759-4856958), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Gillespie syndrome
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ATATGCTGCCAGATTGTTCATCATAAAATTTCCTTCTCTCTCCCAGAAACCGGCGAGAGTTTGGCAAGCGAGTTCCTGTTCTCCGATGTGTGTAGGGTGGAGAGTGGGGAGAACTGCTCCTCTCCTGCACCCAGAGAAGGTAGGACCTCCTAACTGTAAGCCCCATGTTAATATCGGACTCCTCCAGAGGCTTAGCTGATGCAGGTGATGTTGGAAGAAGATTAAATTTACTGCTCAGGAGTAAGGCTATAGCAAAGGGGAAAGGCTGAGAAAGAGGAGGGAGATGAAGGGAAAAGAAGGTTACACCTGAAGAAAAGATCTGATGTGATTCAGCCGATTTATACTGAGTGCCCGCCATTTGCCAGGGACTGTGGTGTACTCTAAGAGACAGTAATGTAGTGGAGGGTGCGGGCAGGCCAAATGGTGATTGCTAGAGAGTTGCCCAATGCTGGGAATAAGGATGGAATACAGAAGTTAGGCACCCGGCCTACTACTGGGCTAAGCGTATCATCAAGAAAGTGATATCCAAACTATAAAAGGAGACTCTTGATATTCCAAGGAGAGGGAATAGTACATCTAAAGGCTTTAAAGGTAAAAAGAAAAAAACAGCAAGTTTGGGGAGATAATGATTATAAGGAAGGAGAGTGGCAAGAAATGAAGCCACAGATACAAACAAAGGGCTAGATCATGAAGGATCTTCTATGTCAGGCGTAGGAGGTTAAACTTCGTCCAGAGGATGGTCAGGGGTTGTTGGAAGATGAGTGATGAAATCTGTGTTTTAGCAAGACCCTCTGCAGCTGGAGAAAGGAATGAGGCACACAGCAAGGCATGGCTCTTACTGCATAAACCAGTGAGAATGAACAGCCTCCAATGTAAAGCAGTTGATCCAGAGGCCCTGCCGTGAAATATCCCTGGATATAGTCCTCACACCATTCCCAGTGAGGAACCTGTGTCCTGTGGCATAACCCTCATCTGAGAGACAAGAGGCCTGTGACTCAGAGTTGCGAAGCAACTCATCTGACATGAAAAGACTGTTTGCGGCTGGGTCTGGGGTTTAAAACCTGAAAAGGACAGGGCATGTTTTAGATCCCACAGAGGGAGAGCAATACTACCATAGCTGGAGAAATTAGCGGGGGTTAGCGATGAAAACAGTTGCCCCAGACGACTTTAGCTTTTGAAAGAAAATAAGAAAATTCTTGGCTCTTGATTCCTTAATTTTATTCTTTCGTGTGCCTGGTGAGATGGCATTCAGGAAACAGGATTTCAAAATCCCGGTCTCTCTTTTCTCCTCACGTTTTCTCTCTGTTGTTACTTGCCGTGTTCACAGAGCTGGTCCCTGCAGAAGAGACGGAACAGGATAAAGAGCACACATGTGAGACGCTGCTGATGTGCATTGTCACTGTGCTGAGTCACGGGCTGCGGAGCGGGGGTGGAGTAGGAGATGTACTCAGGAAGCCGTCCAAAGAGGTAAATTAATCCCGAGGGGAAGGAAGGGCAAAGGGGGCGGGTGGGGTGGTTGGTGGGAGCACCATGCAGCGGTGTTGAGTGTAAACTGAAGACGCAGAGGAAGAGCTGGGAGTAGGGCTGAGTAGCTGCGGAACTAGCTCATCAGGCTCCTTTCCTCTCTATCACGTGAGGTGGTGCCGCAAAGTCAGCTGCGTGGAAAGGGTTGGCTTTGGCTCTCTGTTCAGTAGACTTAGGGACTGTTTCCATCAGGGTTAGGCCTGATCCACCTGAACGCACAGTGAATATCCCTCCTGGCTGTGTCACACCACACTTGGAGAAGTCGCAATTGAGACAGGGGACATGAAAAGAGATGCAGTTTTCAGTTTAAAAGTTGAATGCCCAATTTAATTTCTACCCAAGTAGATGAGGTCTCACTTGAGCTGTGCCCCAGGCTCCGCAGACCAAAGGGTCGCAAGGGACCCAGACTGATCCAGACACCTCTCTTTTCCAGGAACCCCTGTTTGCTGCTAGAGTTATTTATGACCTCTTGTTCTTCTTCATGGTCATCATCATTGTTCTTAACCTGATTTTTGGGGTTATCATTGACACTTTTGCTGACCTGAGGAGTGAGAAGCAGAAGAAGGAAGAGATCTTGAAGACCACGTGCTTTATCTGTGGTGAGTGTCGCTGGCCAGCTCCAGCAAGGGCGTGAAGGCCCAGCGTGGCAGAGGCATGTGGATACTGCGAGGGTGTGATGGGCGGGGTGCCTGCCCAGTTATGCGGGAGGGGGCACCGGCTGCTGCTTCGTCTTGACTCTTCTACCCTCTGCCGTGAGTGAGGCTCTCCTTGGCCTTTATTCTGCTGGGAAGTATTTACAGACCTGGGTTCTGACTGAGCTTCTACCACTTAACTAACTGTGTAACATCATTTAGTCATTTAACATCTTTAATCCTTCTTTCTTCATCTGTAAAATGGGTACAATAACATGTCCTTCTCTGCATTATTGTGAGAATTATGAGAGACAGCGTATGTAACACTCCTAGCTAGAACCTGGCACACTATAGGCACGGGAGGAGAAGTAGTGAACGGCTACGTAAAAGAGGTGCATGGACACCAAACAAATCATTTTCAGTATAACTACAGGAAAATATTTGTAAATGTAAACTAATCATGGAGGAATCTGGGGAGCTGAGTAATCATTTCAGGATTATTCATAATATAGCTACTAAATATATAAATTTCCTAGTGGTATGTATGCTAAAAAAAAAGATCAGTTTCCAATTAAAGACTTAAATTCTTTGCTTTTTGCCCCCTTAAAACCTTTTTAAGCTTTTTGCTTTGGCATAATTTCAGAGTTATAGAAAAGACATGACTATCCAAAGAATTTCTATATATTCTTCACCCAGAATCCCCAAATATTAATATTTTATCTCATTTGCTTTATACACACACACACACACACACACACACACACATTTTCTAATGTGAGTGGCTGACAGTGATGCTTTCTTATCCCTAAATATTTTAGTACACATTTCCTAAAAACAAGAACATTCTCTTGTGTATCTACAGTATAATTATCAAAATTGGGAAATTAAAACAGATCCAATACTGTTATCTCATCTACAGACCTTATTCAAATTTCACCCTTCATTCCAATAATGTCCTTTGCAAATCCCACCTCCTGCGGGGCTTCAGTCACCATGCCTCGTGAGCCTCCGCTGACACTGTTGAAGAATGTAGGTCAATTATTTTGTAGAATGTCCCTTGATTTGAGTTTGTCTGATGTTTGCTCATGGTAAGATTGAGGGTATGTATTTTCCACAGGAATATCAAAGACATGCTGTTGTGTTCTTCTCATTGCATCGTATCAGGAGGCATGTAATGCCAGTTCATCTTGTAACTAGTATCTCGGCTCACTGTAACCTCCACCTCCCAGGGTTCAAGCAATTCTCGTGCTTCAGCCACCTGAGTAGCTAGGATTACAGGTGCCTCTCACCACAACTGGCTGATTTTTTGTATTTGAGTAGAGATGGGATTTCACTATGTTGCTGAGAGGCTGGTCTTGAACTACTGAGCTCAGGCAATCTGCCCGTTTTAGCTTCCCAAAGTGTTAGGATTACAGGCATGAGCCACTGCGCCCAGCCGTGATACTAACGTTGATCATTTGGTTAAGGTGCTAATTGCCAGGTTTTTCCAGTAACTCCATAAAGTTACTTTTTTGGAGAGACACTCTGTAAATATCGTGCTATTCCTTAAACTTTCACCCCTCAGCTTTAGCATTCATTGATGATGCTTGGCTAACTCTATTATGATGATGGTTGCCCAATGATGATTTTTATGTTATTATTATTTCTACATTTCTTTATTGGCTTTTTATTGTAAGAAAGAATTTTTTCTTCTCCCCACATATGTGTTTATATTTCTGTGTTTGTATTTGTAACTACATGGACTTGTGGATTTTTATTTTATTCAATGGGCTATTTATTTTGATGTTCAAATTGCTTCAGATGTGGCCAGTGAGAGCCCTTTCCAGCTGACTCCTGGGTTTAGTCATGTCATCATCGTTTTCTATGTACTTTCTTACTTTTTTGGCATCATAATATATTCCAGGCTTAGGCTCACCTTGTACATTTCCTGAGCCATCCCT
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ATATGCTGCCAGATTGTTCATCATAAAATTTCCTTCTCTCTCCCAGAAACCGGCGAGAGTTTGGCAAGCGAGTTCCTGTTCTCCGATGTGTGTAGGGTGGAGAGTGGGGAGAACTGCTCCTCTCCTGCACCCAGAGAAGGTAGGACCTCCTAACTGTAAGCCCCATGTTAATATCGGACTCCTCCAGAGGCTTAGCTGATGCAGGTGATGTTGGAAGAAGATTAAATTTACTGCTCAGGAGTAAGGCTATAGCAAAGGGGAAAGGCTGAGAAAGAGGAGGGAGATGAAGGGAAAAGAAGGTTACACCTGAAGAAAAGATCTGATGTGATTCAGCCGATTTATACTGAGTGCCCGCCATTTGCCAGGGACTGTGGTGTACTCTAAGAGACAGTAATGTAGTGGAGGGTGCGGGCAGGCCAAATGGTGATTGCTAGAGAGTTGCCCAATGCTGGGAATAAGGATGGAATACAGAAGTTAGGCACCCGGCCTACTACTGGGCTAAGCGTATCATCAAGAAAGTGATATCCAAACTATAAAAGGAGACTCTTGATATTCCAAGGAGAGGGAATAGTACATCTAAAGGCTTTAAAGGTAAAAAGAAAAAAACAGCAAGTTTGGGGAGATAATGATTATAAGGAAGGAGAGTGGCAAGAAATGAAGCCACAGATACAAACAAAGGGCTAGATCATGAAGGATCTTCTATGTCAGGCGTAGGAGGTTAAACTTCGTCCAGAGGATGGTCAGGGGTTGTTGGAAGATGAGTGATGAAATCTGTGTTTTAGCAAGACCCTCTGCAGCTGGAGAAAGGAATGAGGCACACAGCAAGGCATGGCTCTTACTGCATAAACCAGTGAGAATGAACAGCCTCCAATGTAAAGCAGTTGATCCAGAGGCCCTGCCGTGAAATATCCCTGGATATAGTCCTCACACCATTCCCAGTGAGGAACCTGTGTCCTGTGGCATAACCCTCATCTGAGAGACAAGAGGCCTGTGACTCAGAGTTGCGAAGCAACTCATCTGACATGAAAAGACTGTTTGCGGCTGGGTCTGGGGTTTAAAACCTGAAAAGGACAGGGCATGTTTTAGATCCCACAGAGGGAGAGCAATACTACCATAGCTGGAGAAATTAGCGGGGGTTAGCGATGAAAACAGTTGCCCCAGACGACTTTAGCTTTTGAAAGAAAATAAGAAAATTCTTGGCTCTTGATTCCTTAATTTTATTCTTTCGTGTGCCTGGTGAGATGGCATTCAGGAAACAGGATTTCAAAATCCCGGTCTCTCTTTTCTCCTCACGTTTTCTCTCTGTTGTTACTTGCCGTGTTCACAGAGCTGGTCCCTGCAGAAGAGACGGAACAGGATAAAGAGCACACATGTGAGACGCTGCTGATGTGCATTGTCACTGTGCTGAGTCACGGGCTGCGGAGCGGGGGTGGAGTAGGAGATGTACTCAGGAAGCCGTCCAAAGAGGTAAATTAATCCCGAGGGGAAGGAAGGGCAAAGGGGGCGGGTGGGGTGGTTGGTGGGAGCACCATGCAGCGGTGTTGAGTGTAAACTGAAGACGCAGAGGAAGAGCTGGGAGTAGGGCTGAGTAGCTGCGGAACTAGCTCATCAGGCTCCTTTCCTCTCTATCACGTGAGGTGGTGCCGCAAAGTCAGCTGCGTGGAAAGGGTTGGCTTTGGCTCTCTGTTCAGTAGACTTAGGGACTGTTTCCATCAGGGTTAGGCCTGATCCACCTGAACGCACAGTGAATATCCCTCCTGGCTGTGTCACACCACACTTGGAGAAGTCGCAATTGAGACAGGGGACATGAAAAGAGATGCAGTTTTCAGTTTAAAAGTTGAATGCCCAATTTAATTTCTACCCAAGTAGATGAGGTCTCACTTGAGCTGTGCCCCAGGCTCCGCAGACCAAAGGGTCGCAAGGGACCCAGACTGATCCAGACACCTCTCTTTTCCAGGAACCCCTGTTTGCTGCTAGAGTTATTTATGACCTCTTGTTCTTCTTCATGGTCATCATCATTGTTCTTAACCTGATTTTTGGGGTTATCAATGACACTTTTGCTGACCTGAGGAGTGAGAAGCAGAAGAAGGAAGAGATCTTGAAGACCACGTGCTTTATCTGTGGTGAGTGTCGCTGGCCAGCTCCAGCAAGGGCGTGAAGGCCCAGCGTGGCAGAGGCATGTGGATACTGCGAGGGTGTGATGGGCGGGGTGCCTGCCCAGTTATGCGGGAGGGGGCACCGGCTGCTGCTTCGTCTTGACTCTTCTACCCTCTGCCGTGAGTGAGGCTCTCCTTGGCCTTTATTCTGCTGGGAAGTATTTACAGACCTGGGTTCTGACTGAGCTTCTACCACTTAACTAACTGTGTAACATCATTTAGTCATTTAACATCTTTAATCCTTCTTTCTTCATCTGTAAAATGGGTACAATAACATGTCCTTCTCTGCATTATTGTGAGAATTATGAGAGACAGCGTATGTAACACTCCTAGCTAGAACCTGGCACACTATAGGCACGGGAGGAGAAGTAGTGAACGGCTACGTAAAAGAGGTGCATGGACACCAAACAAATCATTTTCAGTATAACTACAGGAAAATATTTGTAAATGTAAACTAATCATGGAGGAATCTGGGGAGCTGAGTAATCATTTCAGGATTATTCATAATATAGCTACTAAATATATAAATTTCCTAGTGGTATGTATGCTAAAAAAAAAGATCAGTTTCCAATTAAAGACTTAAATTCTTTGCTTTTTGCCCCCTTAAAACCTTTTTAAGCTTTTTGCTTTGGCATAATTTCAGAGTTATAGAAAAGACATGACTATCCAAAGAATTTCTATATATTCTTCACCCAGAATCCCCAAATATTAATATTTTATCTCATTTGCTTTATACACACACACACACACACACACACACACACATTTTCTAATGTGAGTGGCTGACAGTGATGCTTTCTTATCCCTAAATATTTTAGTACACATTTCCTAAAAACAAGAACATTCTCTTGTGTATCTACAGTATAATTATCAAAATTGGGAAATTAAAACAGATCCAATACTGTTATCTCATCTACAGACCTTATTCAAATTTCACCCTTCATTCCAATAATGTCCTTTGCAAATCCCACCTCCTGCGGGGCTTCAGTCACCATGCCTCGTGAGCCTCCGCTGACACTGTTGAAGAATGTAGGTCAATTATTTTGTAGAATGTCCCTTGATTTGAGTTTGTCTGATGTTTGCTCATGGTAAGATTGAGGGTATGTATTTTCCACAGGAATATCAAAGACATGCTGTTGTGTTCTTCTCATTGCATCGTATCAGGAGGCATGTAATGCCAGTTCATCTTGTAACTAGTATCTCGGCTCACTGTAACCTCCACCTCCCAGGGTTCAAGCAATTCTCGTGCTTCAGCCACCTGAGTAGCTAGGATTACAGGTGCCTCTCACCACAACTGGCTGATTTTTTGTATTTGAGTAGAGATGGGATTTCACTATGTTGCTGAGAGGCTGGTCTTGAACTACTGAGCTCAGGCAATCTGCCCGTTTTAGCTTCCCAAAGTGTTAGGATTACAGGCATGAGCCACTGCGCCCAGCCGTGATACTAACGTTGATCATTTGGTTAAGGTGCTAATTGCCAGGTTTTTCCAGTAACTCCATAAAGTTACTTTTTTGGAGAGACACTCTGTAAATATCGTGCTATTCCTTAAACTTTCACCCCTCAGCTTTAGCATTCATTGATGATGCTTGGCTAACTCTATTATGATGATGGTTGCCCAATGATGATTTTTATGTTATTATTATTTCTACATTTCTTTATTGGCTTTTTATTGTAAGAAAGAATTTTTTCTTCTCCCCACATATGTGTTTATATTTCTGTGTTTGTATTTGTAACTACATGGACTTGTGGATTTTTATTTTATTCAATGGGCTATTTATTTTGATGTTCAAATTGCTTCAGATGTGGCCAGTGAGAGCCCTTTCCAGCTGACTCCTGGGTTTAGTCATGTCATCATCGTTTTCTATGTACTTTCTTACTTTTTTGGCATCATAATATATTCCAGGCTTAGGCTCACCTTGTACATTTCCTGAGCCATCCCT
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Task1_train_5893
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Gene ITPR1, LOC126806590 (inositol 1,4,5-trisphosphate receptor type 1| MED14-independent group 3 enhancer GRCh37_chr3:4855759-4856958), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Gillespie syndrome
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AGATTGTTCATCATAAAATTTCCTTCTCTCTCCCAGAAACCGGCGAGAGTTTGGCAAGCGAGTTCCTGTTCTCCGATGTGTGTAGGGTGGAGAGTGGGGAGAACTGCTCCTCTCCTGCACCCAGAGAAGGTAGGACCTCCTAACTGTAAGCCCCATGTTAATATCGGACTCCTCCAGAGGCTTAGCTGATGCAGGTGATGTTGGAAGAAGATTAAATTTACTGCTCAGGAGTAAGGCTATAGCAAAGGGGAAAGGCTGAGAAAGAGGAGGGAGATGAAGGGAAAAGAAGGTTACACCTGAAGAAAAGATCTGATGTGATTCAGCCGATTTATACTGAGTGCCCGCCATTTGCCAGGGACTGTGGTGTACTCTAAGAGACAGTAATGTAGTGGAGGGTGCGGGCAGGCCAAATGGTGATTGCTAGAGAGTTGCCCAATGCTGGGAATAAGGATGGAATACAGAAGTTAGGCACCCGGCCTACTACTGGGCTAAGCGTATCATCAAGAAAGTGATATCCAAACTATAAAAGGAGACTCTTGATATTCCAAGGAGAGGGAATAGTACATCTAAAGGCTTTAAAGGTAAAAAGAAAAAAACAGCAAGTTTGGGGAGATAATGATTATAAGGAAGGAGAGTGGCAAGAAATGAAGCCACAGATACAAACAAAGGGCTAGATCATGAAGGATCTTCTATGTCAGGCGTAGGAGGTTAAACTTCGTCCAGAGGATGGTCAGGGGTTGTTGGAAGATGAGTGATGAAATCTGTGTTTTAGCAAGACCCTCTGCAGCTGGAGAAAGGAATGAGGCACACAGCAAGGCATGGCTCTTACTGCATAAACCAGTGAGAATGAACAGCCTCCAATGTAAAGCAGTTGATCCAGAGGCCCTGCCGTGAAATATCCCTGGATATAGTCCTCACACCATTCCCAGTGAGGAACCTGTGTCCTGTGGCATAACCCTCATCTGAGAGACAAGAGGCCTGTGACTCAGAGTTGCGAAGCAACTCATCTGACATGAAAAGACTGTTTGCGGCTGGGTCTGGGGTTTAAAACCTGAAAAGGACAGGGCATGTTTTAGATCCCACAGAGGGAGAGCAATACTACCATAGCTGGAGAAATTAGCGGGGGTTAGCGATGAAAACAGTTGCCCCAGACGACTTTAGCTTTTGAAAGAAAATAAGAAAATTCTTGGCTCTTGATTCCTTAATTTTATTCTTTCGTGTGCCTGGTGAGATGGCATTCAGGAAACAGGATTTCAAAATCCCGGTCTCTCTTTTCTCCTCACGTTTTCTCTCTGTTGTTACTTGCCGTGTTCACAGAGCTGGTCCCTGCAGAAGAGACGGAACAGGATAAAGAGCACACATGTGAGACGCTGCTGATGTGCATTGTCACTGTGCTGAGTCACGGGCTGCGGAGCGGGGGTGGAGTAGGAGATGTACTCAGGAAGCCGTCCAAAGAGGTAAATTAATCCCGAGGGGAAGGAAGGGCAAAGGGGGCGGGTGGGGTGGTTGGTGGGAGCACCATGCAGCGGTGTTGAGTGTAAACTGAAGACGCAGAGGAAGAGCTGGGAGTAGGGCTGAGTAGCTGCGGAACTAGCTCATCAGGCTCCTTTCCTCTCTATCACGTGAGGTGGTGCCGCAAAGTCAGCTGCGTGGAAAGGGTTGGCTTTGGCTCTCTGTTCAGTAGACTTAGGGACTGTTTCCATCAGGGTTAGGCCTGATCCACCTGAACGCACAGTGAATATCCCTCCTGGCTGTGTCACACCACACTTGGAGAAGTCGCAATTGAGACAGGGGACATGAAAAGAGATGCAGTTTTCAGTTTAAAAGTTGAATGCCCAATTTAATTTCTACCCAAGTAGATGAGGTCTCACTTGAGCTGTGCCCCAGGCTCCGCAGACCAAAGGGTCGCAAGGGACCCAGACTGATCCAGACACCTCTCTTTTCCAGGAACCCCTGTTTGCTGCTAGAGTTATTTATGACCTCTTGTTCTTCTTCATGGTCATCATCATTGTTCTTAACCTGATTTTTGGGGTTATCATTGACACTTTTGCTGACCTGAGGAGTGAGAAGCAGAAGAAGGAAGAGATCTTGAAGACCACGTGCTTTATCTGTGGTGAGTGTCGCTGGCCAGCTCCAGCAAGGGCGTGAAGGCCCAGCGTGGCAGAGGCATGTGGATACTGCGAGGGTGTGATGGGCGGGGTGCCTGCCCAGTTATGCGGGAGGGGGCACCGGCTGCTGCTTCGTCTTGACTCTTCTACCCTCTGCCGTGAGTGAGGCTCTCCTTGGCCTTTATTCTGCTGGGAAGTATTTACAGACCTGGGTTCTGACTGAGCTTCTACCACTTAACTAACTGTGTAACATCATTTAGTCATTTAACATCTTTAATCCTTCTTTCTTCATCTGTAAAATGGGTACAATAACATGTCCTTCTCTGCATTATTGTGAGAATTATGAGAGACAGCGTATGTAACACTCCTAGCTAGAACCTGGCACACTATAGGCACGGGAGGAGAAGTAGTGAACGGCTACGTAAAAGAGGTGCATGGACACCAAACAAATCATTTTCAGTATAACTACAGGAAAATATTTGTAAATGTAAACTAATCATGGAGGAATCTGGGGAGCTGAGTAATCATTTCAGGATTATTCATAATATAGCTACTAAATATATAAATTTCCTAGTGGTATGTATGCTAAAAAAAAAGATCAGTTTCCAATTAAAGACTTAAATTCTTTGCTTTTTGCCCCCTTAAAACCTTTTTAAGCTTTTTGCTTTGGCATAATTTCAGAGTTATAGAAAAGACATGACTATCCAAAGAATTTCTATATATTCTTCACCCAGAATCCCCAAATATTAATATTTTATCTCATTTGCTTTATACACACACACACACACACACACACACACACATTTTCTAATGTGAGTGGCTGACAGTGATGCTTTCTTATCCCTAAATATTTTAGTACACATTTCCTAAAAACAAGAACATTCTCTTGTGTATCTACAGTATAATTATCAAAATTGGGAAATTAAAACAGATCCAATACTGTTATCTCATCTACAGACCTTATTCAAATTTCACCCTTCATTCCAATAATGTCCTTTGCAAATCCCACCTCCTGCGGGGCTTCAGTCACCATGCCTCGTGAGCCTCCGCTGACACTGTTGAAGAATGTAGGTCAATTATTTTGTAGAATGTCCCTTGATTTGAGTTTGTCTGATGTTTGCTCATGGTAAGATTGAGGGTATGTATTTTCCACAGGAATATCAAAGACATGCTGTTGTGTTCTTCTCATTGCATCGTATCAGGAGGCATGTAATGCCAGTTCATCTTGTAACTAGTATCTCGGCTCACTGTAACCTCCACCTCCCAGGGTTCAAGCAATTCTCGTGCTTCAGCCACCTGAGTAGCTAGGATTACAGGTGCCTCTCACCACAACTGGCTGATTTTTTGTATTTGAGTAGAGATGGGATTTCACTATGTTGCTGAGAGGCTGGTCTTGAACTACTGAGCTCAGGCAATCTGCCCGTTTTAGCTTCCCAAAGTGTTAGGATTACAGGCATGAGCCACTGCGCCCAGCCGTGATACTAACGTTGATCATTTGGTTAAGGTGCTAATTGCCAGGTTTTTCCAGTAACTCCATAAAGTTACTTTTTTGGAGAGACACTCTGTAAATATCGTGCTATTCCTTAAACTTTCACCCCTCAGCTTTAGCATTCATTGATGATGCTTGGCTAACTCTATTATGATGATGGTTGCCCAATGATGATTTTTATGTTATTATTATTTCTACATTTCTTTATTGGCTTTTTATTGTAAGAAAGAATTTTTTCTTCTCCCCACATATGTGTTTATATTTCTGTGTTTGTATTTGTAACTACATGGACTTGTGGATTTTTATTTTATTCAATGGGCTATTTATTTTGATGTTCAAATTGCTTCAGATGTGGCCAGTGAGAGCCCTTTCCAGCTGACTCCTGGGTTTAGTCATGTCATCATCGTTTTCTATGTACTTTCTTACTTTTTTGGCATCATAATATATTCCAGGCTTAGGCTCACCTTGTACATTTCCTGAGCCATCCCTGGAATCAGCC
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AGATTGTTCATCATAAAATTTCCTTCTCTCTCCCAGAAACCGGCGAGAGTTTGGCAAGCGAGTTCCTGTTCTCCGATGTGTGTAGGGTGGAGAGTGGGGAGAACTGCTCCTCTCCTGCACCCAGAGAAGGTAGGACCTCCTAACTGTAAGCCCCATGTTAATATCGGACTCCTCCAGAGGCTTAGCTGATGCAGGTGATGTTGGAAGAAGATTAAATTTACTGCTCAGGAGTAAGGCTATAGCAAAGGGGAAAGGCTGAGAAAGAGGAGGGAGATGAAGGGAAAAGAAGGTTACACCTGAAGAAAAGATCTGATGTGATTCAGCCGATTTATACTGAGTGCCCGCCATTTGCCAGGGACTGTGGTGTACTCTAAGAGACAGTAATGTAGTGGAGGGTGCGGGCAGGCCAAATGGTGATTGCTAGAGAGTTGCCCAATGCTGGGAATAAGGATGGAATACAGAAGTTAGGCACCCGGCCTACTACTGGGCTAAGCGTATCATCAAGAAAGTGATATCCAAACTATAAAAGGAGACTCTTGATATTCCAAGGAGAGGGAATAGTACATCTAAAGGCTTTAAAGGTAAAAAGAAAAAAACAGCAAGTTTGGGGAGATAATGATTATAAGGAAGGAGAGTGGCAAGAAATGAAGCCACAGATACAAACAAAGGGCTAGATCATGAAGGATCTTCTATGTCAGGCGTAGGAGGTTAAACTTCGTCCAGAGGATGGTCAGGGGTTGTTGGAAGATGAGTGATGAAATCTGTGTTTTAGCAAGACCCTCTGCAGCTGGAGAAAGGAATGAGGCACACAGCAAGGCATGGCTCTTACTGCATAAACCAGTGAGAATGAACAGCCTCCAATGTAAAGCAGTTGATCCAGAGGCCCTGCCGTGAAATATCCCTGGATATAGTCCTCACACCATTCCCAGTGAGGAACCTGTGTCCTGTGGCATAACCCTCATCTGAGAGACAAGAGGCCTGTGACTCAGAGTTGCGAAGCAACTCATCTGACATGAAAAGACTGTTTGCGGCTGGGTCTGGGGTTTAAAACCTGAAAAGGACAGGGCATGTTTTAGATCCCACAGAGGGAGAGCAATACTACCATAGCTGGAGAAATTAGCGGGGGTTAGCGATGAAAACAGTTGCCCCAGACGACTTTAGCTTTTGAAAGAAAATAAGAAAATTCTTGGCTCTTGATTCCTTAATTTTATTCTTTCGTGTGCCTGGTGAGATGGCATTCAGGAAACAGGATTTCAAAATCCCGGTCTCTCTTTTCTCCTCACGTTTTCTCTCTGTTGTTACTTGCCGTGTTCACAGAGCTGGTCCCTGCAGAAGAGACGGAACAGGATAAAGAGCACACATGTGAGACGCTGCTGATGTGCATTGTCACTGTGCTGAGTCACGGGCTGCGGAGCGGGGGTGGAGTAGGAGATGTACTCAGGAAGCCGTCCAAAGAGGTAAATTAATCCCGAGGGGAAGGAAGGGCAAAGGGGGCGGGTGGGGTGGTTGGTGGGAGCACCATGCAGCGGTGTTGAGTGTAAACTGAAGACGCAGAGGAAGAGCTGGGAGTAGGGCTGAGTAGCTGCGGAACTAGCTCATCAGGCTCCTTTCCTCTCTATCACGTGAGGTGGTGCCGCAAAGTCAGCTGCGTGGAAAGGGTTGGCTTTGGCTCTCTGTTCAGTAGACTTAGGGACTGTTTCCATCAGGGTTAGGCCTGATCCACCTGAACGCACAGTGAATATCCCTCCTGGCTGTGTCACACCACACTTGGAGAAGTCGCAATTGAGACAGGGGACATGAAAAGAGATGCAGTTTTCAGTTTAAAAGTTGAATGCCCAATTTAATTTCTACCCAAGTAGATGAGGTCTCACTTGAGCTGTGCCCCAGGCTCCGCAGACCAAAGGGTCGCAAGGGACCCAGACTGATCCAGACACCTCTCTTTTCCAGGAACCCCTGTTTGCTGCTAGAGTTATTTATGACCTCTTGTTCTTCTTCATGGTCATCATCATTGTTCTTAACCTGATTTTTGGGGTTATCATTGACACTTTGGCTGACCTGAGGAGTGAGAAGCAGAAGAAGGAAGAGATCTTGAAGACCACGTGCTTTATCTGTGGTGAGTGTCGCTGGCCAGCTCCAGCAAGGGCGTGAAGGCCCAGCGTGGCAGAGGCATGTGGATACTGCGAGGGTGTGATGGGCGGGGTGCCTGCCCAGTTATGCGGGAGGGGGCACCGGCTGCTGCTTCGTCTTGACTCTTCTACCCTCTGCCGTGAGTGAGGCTCTCCTTGGCCTTTATTCTGCTGGGAAGTATTTACAGACCTGGGTTCTGACTGAGCTTCTACCACTTAACTAACTGTGTAACATCATTTAGTCATTTAACATCTTTAATCCTTCTTTCTTCATCTGTAAAATGGGTACAATAACATGTCCTTCTCTGCATTATTGTGAGAATTATGAGAGACAGCGTATGTAACACTCCTAGCTAGAACCTGGCACACTATAGGCACGGGAGGAGAAGTAGTGAACGGCTACGTAAAAGAGGTGCATGGACACCAAACAAATCATTTTCAGTATAACTACAGGAAAATATTTGTAAATGTAAACTAATCATGGAGGAATCTGGGGAGCTGAGTAATCATTTCAGGATTATTCATAATATAGCTACTAAATATATAAATTTCCTAGTGGTATGTATGCTAAAAAAAAAGATCAGTTTCCAATTAAAGACTTAAATTCTTTGCTTTTTGCCCCCTTAAAACCTTTTTAAGCTTTTTGCTTTGGCATAATTTCAGAGTTATAGAAAAGACATGACTATCCAAAGAATTTCTATATATTCTTCACCCAGAATCCCCAAATATTAATATTTTATCTCATTTGCTTTATACACACACACACACACACACACACACACACATTTTCTAATGTGAGTGGCTGACAGTGATGCTTTCTTATCCCTAAATATTTTAGTACACATTTCCTAAAAACAAGAACATTCTCTTGTGTATCTACAGTATAATTATCAAAATTGGGAAATTAAAACAGATCCAATACTGTTATCTCATCTACAGACCTTATTCAAATTTCACCCTTCATTCCAATAATGTCCTTTGCAAATCCCACCTCCTGCGGGGCTTCAGTCACCATGCCTCGTGAGCCTCCGCTGACACTGTTGAAGAATGTAGGTCAATTATTTTGTAGAATGTCCCTTGATTTGAGTTTGTCTGATGTTTGCTCATGGTAAGATTGAGGGTATGTATTTTCCACAGGAATATCAAAGACATGCTGTTGTGTTCTTCTCATTGCATCGTATCAGGAGGCATGTAATGCCAGTTCATCTTGTAACTAGTATCTCGGCTCACTGTAACCTCCACCTCCCAGGGTTCAAGCAATTCTCGTGCTTCAGCCACCTGAGTAGCTAGGATTACAGGTGCCTCTCACCACAACTGGCTGATTTTTTGTATTTGAGTAGAGATGGGATTTCACTATGTTGCTGAGAGGCTGGTCTTGAACTACTGAGCTCAGGCAATCTGCCCGTTTTAGCTTCCCAAAGTGTTAGGATTACAGGCATGAGCCACTGCGCCCAGCCGTGATACTAACGTTGATCATTTGGTTAAGGTGCTAATTGCCAGGTTTTTCCAGTAACTCCATAAAGTTACTTTTTTGGAGAGACACTCTGTAAATATCGTGCTATTCCTTAAACTTTCACCCCTCAGCTTTAGCATTCATTGATGATGCTTGGCTAACTCTATTATGATGATGGTTGCCCAATGATGATTTTTATGTTATTATTATTTCTACATTTCTTTATTGGCTTTTTATTGTAAGAAAGAATTTTTTCTTCTCCCCACATATGTGTTTATATTTCTGTGTTTGTATTTGTAACTACATGGACTTGTGGATTTTTATTTTATTCAATGGGCTATTTATTTTGATGTTCAAATTGCTTCAGATGTGGCCAGTGAGAGCCCTTTCCAGCTGACTCCTGGGTTTAGTCATGTCATCATCGTTTTCTATGTACTTTCTTACTTTTTTGGCATCATAATATATTCCAGGCTTAGGCTCACCTTGTACATTTCCTGAGCCATCCCTGGAATCAGCC
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Task1_train_5894
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Located on Chromosome 3, this mutation impacts GRM7 (glutamate metabotropic receptor 7). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Bilateral multifocal epileptiform discharges
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CAAATGAATAATCATAACAGTATCATTAAGAACCAAGATTGTCCTCATGAGAGAAAGGAAGTAGAGATTTAAGAGTGTCAAGGTTAAGCAAAAACTCTGTAGTCCTGAATTTGAATGGGAAATAGCTGCATAAATTCATGATAAATTTTATCTTTAAAAAAAAATCCTATACTATATACACTGAAAAACCCTAGATCCCGTGACAGGCAGTGAGCATAAAGTTGATTTGGTATTTAAATGAGATACATATAAAACACAACTCTCTGGCATATGAGATATTAATGGTGCTCTGAAATGGAAAAATACAAATTCAAGTAAATTTGGGAAATTCTGAATTTCCCTCTTGGAGGTTACATTTTATGTTATATGTTAAATGTTCTGGAAAAGTCAGTGAAGCAACCTAAAACATTTTAGCACAGTGGCTGTCCGGAACCCTTTGTGTGTTTTGCAGGAAAAGGGGTTGAGGTTGTAGAACTCTTATTGTGAGGTTGTAGAACTCTTATTGTTTCTTCACTACACAAATGTGCCGTAGGAAACAATTTGGAAAATATTGCTGTGAAAGTGAAATGCAATTTGTGGATAATTCTTCTTCATAGAGGGACAAGAGGTCTAGAGAGAGCTACTGGTGTCGTGTACTTAATGAATGCATAATTTAATGCAACAAGTGTTATTTAGTATCTACTGGATGCTAAAGGCTATGTTCAATGGTGGGGATCCAAAGGTAAAAACAAGAAAAATGTCTTGGACACCTGGTAGAGCATTAAAATATGATTCTATATTGACAGTGCTATAAGCAAGATTTGAAATGTTTTACGGGAATGTTGAATTGCGACTGAGCGCCTCGGTGTGACAAACAGTTGGGAATTAAGTATGATGGTGAAAGCAAAGAGGAAGGATCTCCCTGGCAAAGTAAACAGCATGAGCAAAGATAGTTTAACAGCAACAATAGTCACACCTATCTGGAAGAATAAAGGAAAATAAATGTGAGAGGGTAGGCAGGGTCCAGGTAATGAAAAGAATGTGGGCTTTGGGGTCTGACAAGCCTGGGCCATCATCATTGCTCTACCTGTAAATGACCTTTGGAAGGTGATTTAACCTCTATAAGGCTCAGCTTTCCCACTGGTATCATAAGGATAAAAAAAATTACCTCACAAAGTGATGATGACATAAAAATCCCACATCCACAGCTTTCAACACAGTGTGGGCACTTAGTCAATATCAGTTGTTATCATTATTAGGCAGATGGGAGCAAAATGGTAAATATCTACTGTGACCAGTGAAAGGGATCTGGATTTAATCTGTAGTCAGCAGACAGCCATTGAGGGACTCTTAGTGTAGGAATGATGTGACTAGCTCTGTAGTTTGCAAAGGTGAACGTGGAGGAATGAATGGATGAAAGGAGACATTGAGCATTGCACGTGATGGAAAATGGTGGGAGGCATAAAGAGGCCATTGGTGGAGTGTTTGACACTGTTCAGTACTTCACAGGTAGGACTGCTAGAATTCATTAGACTTACATATGTGAGAGCTGGGATTGTGAAAGGGAAGAGAAAGAAAACGGACATCAGTGTTTCTAGCCTGAGCATCTGAATCTCCAGTAATACTAACAATCGAGACAGGCAACAGAGACGGTACAATAGGTGTGTAGAAAGTAATGAATTCAGGTGTGGAATTTAGTTTGTTTTCTGTCATTATCCATTTGACCTTTCTAGAGTAAGCGAGCTTTTCAGGTTCGAATGTGGCAACCCAGCTTCTGATCTCAAAGATCCTTTTATTCTAAGGGACCACTATATTTTGAATAGTATGTAAGGTGTCACAAAGTAAAATACTACAAGCTATTAGAGAAACCTAACATGGTAGCTGGATATGGATACCAACTGGCTATCACGTGGTAGGCAAATGTGGCTTGAATTACTGTATTTATCGAAGCAGTGTTTTCTTTAAGCATAATTGAAAGTTTACTTTTAAATTTGGACATTCTACTCAATGCCAATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTCTTGTTTTAATGTGCAGGACAGGAGAGAATTGGAAAAGATTCCAACTATGAGCAGGAGGGTAAAGTCCAGTTCGTGATTGACGCAGTCTATGCTATGGCTCACGCCCTTCACCACATGAACAAGGATCTCTGTGCTGACTACCGGGGTGTCTGCCCAGAGATGGAGCAAGCTGGAGGCAAGAAGTTGCTGAAGTATATACGCAATGTTAATTTCAATGGTGAGTCTCCAAAAATCCATCCTTTTTGGAATCCTAAGTGTTGGCATTCTGTTTCATAAGTTTTAAATGTCTATTATTATTTACTTTAAAATATGTGTCAAAACTTGCTTGATTATAAAACTTTAAATGATTGAATCAATGCATGAATGAGCAAATGAATGTAAGAATGAGTTAAGATATATTTGGGGGTTATGGTTTGGTCTCATTTTCTTGAAATAGAGATTTTTTTTTTTTTTTTGCACTATGCCAAATTCTTCTTTGGTGAATTTAGGTGGGTATAGGATGGAAGAGGAAGGGAAAGGAGCAGTTGCTGTAGGTACCTCTGAATATGGAAAAACTGAAGTCATTTTTCCTCTGCTCTCATACCACAACAGGAATTCACACAGAAGACTTCTGTGACCAAATGTCAGTGGAGAGGTTTCCCCCACACACCAAGCTAGCAATAAATTCTGCAGTGGACACAAGCTGACTGTCCTCTACTTCAATTCCTACATGATCTATCTGGCATGCTGTGAAACCCCACAAGTTGGAGGCTTAGTTCCCAAGACTCTTCCCCTTGCCACTTGCAATGACAGTGGCAAACCCTAGGTTGTTTTGTCTGGGCTTCTGATGGTCCGGCTATAAACTGGAATTTTCACAATCTCCTCCTCAGGTTTGATTAATTTGCTAGAGCAACTCACAAAACTCAGTAAAACACTTACTTAAATTTATTACAAAAGGTATTTTAAAGGACACAAATAAACCTCCAGATGAAGAGATCCTAGGGCAAAGTCTGAAAGGGTCCTGAGAGTAGGAGTTTCTGTCCTCAGGGATTTGGGGTGTGCTGGCCTCCCCTGCACAAAGATGAGTTCTTGCTCACTTTCCTGTCAGCCTCCATGTGTTCAACTCTGAACCTTGTCCTCTTGGGCCTTTTATGAAGATTTCATTGGAATAGGCATGATCGACAACCACGAAGAAATGTGACTGTACACAAAGGGTATAATCTAATACTAATAGGCTAAGCGGGAATACCTGGTGAGGCCTGTCTGTCCAGATCCTTCTTGGTCTATCTGTGCAACATTTCTTCCTCCAGGATATGGGGCAGGACCCTTCTAAAATGACGGGCTGATAGCGTATTAACAAAAAGGTGGAGGAAGGTTAGAATGCTGCCTTGGGCTGGTAAAAGGAGGGCAGGGTAAGGTCAGAAAGAGAAATTGTTTTCTGAGGCCTAAAGTGCCCCAACATTATAACAAGGGCTATGGTAATTATGAGCCAAGAACCATACATGAAAAGCTACACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCATAAACTAACATCACAATACTCAAGTTAATTGGGATAATATTTGTAATTTGCCACATCAACCATATTTCAAGTTTTAAACATATTTCTCAAAGTACAAAACTCTTTTATAAATTGATAGGTTTCCTAAAAGAGGTGGGTAGAGATAAGTGAAAAAATGGGCCAATAGGATAAAAGACATAGGAGAAAGCACACTCTGATAATGTCTGTTTGAATAGTCTCAACTCTTACAACATCTTAATGTTTCACATGCCAACAGCTAAATAAGTAAACTTGAATGTATGAGCAATGCAACATTCAACACAGACAGTAACAAATAATCATAATTATATTATAAACAAATTGTGTAACTGAAGTGAAGGAGGGTGAGGAAGAAATAATGAATGCAAGTAATTTTGGAAAATAGTATCTGACTATATAAGGCTGAAGACAAAATAACTGTACACATATATTAGACAATATCTAGTAAATCTGTATTTTTCTCACAATTCTGAAGCTAATCTATGTATATAATGGGACTGAGAAAATAATT
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CAAATGAATAATCATAACAGTATCATTAAGAACCAAGATTGTCCTCATGAGAGAAAGGAAGTAGAGATTTAAGAGTGTCAAGGTTAAGCAAAAACTCTGTAGTCCTGAATTTGAATGGGAAATAGCTGCATAAATTCATGATAAATTTTATCTTTAAAAAAAAATCCTATACTATATACACTGAAAAACCCTAGATCCCGTGACAGGCAGTGAGCATAAAGTTGATTTGGTATTTAAATGAGATACATATAAAACACAACTCTCTGGCATATGAGATATTAATGGTGCTCTGAAATGGAAAAATACAAATTCAAGTAAATTTGGGAAATTCTGAATTTCCCTCTTGGAGGTTACATTTTATGTTATATGTTAAATGTTCTGGAAAAGTCAGTGAAGCAACCTAAAACATTTTAGCACAGTGGCTGTCCGGAACCCTTTGTGTGTTTTGCAGGAAAAGGGGTTGAGGTTGTAGAACTCTTATTGTGAGGTTGTAGAACTCTTATTGTTTCTTCACTACACAAATGTGCCGTAGGAAACAATTTGGAAAATATTGCTGTGAAAGTGAAATGCAATTTGTGGATAATTCTTCTTCATAGAGGGACAAGAGGTCTAGAGAGAGCTACTGGTGTCGTGTACTTAATGAATGCATAATTTAATGCAACAAGTGTTATTTAGTATCTACTGGATGCTAAAGGCTATGTTCAATGGTGGGGATCCAAAGGTAAAAACAAGAAAAATGTCTTGGACACCTGGTAGAGCATTAAAATATGATTCTATATTGACAGTGCTATAAGCAAGATTTGAAATGTTTTACGGGAATGTTGAATTGCGACTGAGCGCCTCGGTGTGACAAACAGTTGGGAATTAAGTATGATGGTGAAAGCAAAGAGGAAGGATCTCCCTGGCAAAGTAAACAGCATGAGCAAAGATAGTTTAACAGCAACAATAGTCACACCTATCTGGAAGAATAAAGGAAAATAAATGTGAGAGGGTAGGCAGGGTCCAGGTAATGAAAAGAATGTGGGCTTTGGGGTCTGACAAGCCTGGGCCATCATCATTGCTCTACCTGTAAATGACCTTTGGAAGGTGATTTAACCTCTATAAGGCTCAGCTTTCCCACTGGTATCATAAGGATAAAAAAAATTACCTCACAAAGTGATGATGACATAAAAATCCCACATCCACAGCTTTCAACACAGTGTGGGCACTTAGTCAATATCAGTTGTTATCATTATTAGGCAGATGGGAGCAAAATGGTAAATATCTACTGTGACCAGTGAAAGGGATCTGGATTTAATCTGTAGTCAGCAGACAGCCATTGAGGGACTCTTAGTGTAGGAATGATGTGACTAGCTCTGTAGTTTGCAAAGGTGAACGTGGAGGAATGAATGGATGAAAGGAGACATTGAGCATTGCACGTGATGGAAAATGGTGGGAGGCATAAAGAGGCCATTGGTGGAGTGTTTGACACTGTTCAGTACTTCACAGGTAGGACTGCTAGAATTCATTAGACTTACATATGTGAGAGCTGGGATTGTGAAAGGGAAGAGAAAGAAAACGGACATCAGTGTTTCTAGCCTGAGCATCTGAATCTCCAGTAATACTAACAATCGAGACAGGCAACAGAGACGGTACAATAGGTGTGTAGAAAGTAATGAATTCAGGTGTGGAATTTAGTTTGTTTTCTGTCATTATCCATTTGACCTTTCTAGAGTAAGCGAGCTTTTCAGGTTCGAATGTGGCAACCCAGCTTCTGATCTCAAAGATCCTTTTATTCTAAGGGACCACTATATTTTGAATAGTATGTAAGGTGTCACAAAGTAAAATACTACAAGCTATTAGAGAAACCTAACATGGTAGCTGGATATGGATACCAACTGGCTATCACGTGGTAGGCAAATGTGGCTTGAATTACTGTATTTATCGAAGCAGTGTTTTCTTTAAGCATAATTGAAAGTTTACTTTTAAATTTGGACATTCTACTCAATGCCAATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTCTTGTTTTAATGTGCAGGACAGAAGAGAATTGGAAAAGATTCCAACTATGAGCAGGAGGGTAAAGTCCAGTTCGTGATTGACGCAGTCTATGCTATGGCTCACGCCCTTCACCACATGAACAAGGATCTCTGTGCTGACTACCGGGGTGTCTGCCCAGAGATGGAGCAAGCTGGAGGCAAGAAGTTGCTGAAGTATATACGCAATGTTAATTTCAATGGTGAGTCTCCAAAAATCCATCCTTTTTGGAATCCTAAGTGTTGGCATTCTGTTTCATAAGTTTTAAATGTCTATTATTATTTACTTTAAAATATGTGTCAAAACTTGCTTGATTATAAAACTTTAAATGATTGAATCAATGCATGAATGAGCAAATGAATGTAAGAATGAGTTAAGATATATTTGGGGGTTATGGTTTGGTCTCATTTTCTTGAAATAGAGATTTTTTTTTTTTTTTTGCACTATGCCAAATTCTTCTTTGGTGAATTTAGGTGGGTATAGGATGGAAGAGGAAGGGAAAGGAGCAGTTGCTGTAGGTACCTCTGAATATGGAAAAACTGAAGTCATTTTTCCTCTGCTCTCATACCACAACAGGAATTCACACAGAAGACTTCTGTGACCAAATGTCAGTGGAGAGGTTTCCCCCACACACCAAGCTAGCAATAAATTCTGCAGTGGACACAAGCTGACTGTCCTCTACTTCAATTCCTACATGATCTATCTGGCATGCTGTGAAACCCCACAAGTTGGAGGCTTAGTTCCCAAGACTCTTCCCCTTGCCACTTGCAATGACAGTGGCAAACCCTAGGTTGTTTTGTCTGGGCTTCTGATGGTCCGGCTATAAACTGGAATTTTCACAATCTCCTCCTCAGGTTTGATTAATTTGCTAGAGCAACTCACAAAACTCAGTAAAACACTTACTTAAATTTATTACAAAAGGTATTTTAAAGGACACAAATAAACCTCCAGATGAAGAGATCCTAGGGCAAAGTCTGAAAGGGTCCTGAGAGTAGGAGTTTCTGTCCTCAGGGATTTGGGGTGTGCTGGCCTCCCCTGCACAAAGATGAGTTCTTGCTCACTTTCCTGTCAGCCTCCATGTGTTCAACTCTGAACCTTGTCCTCTTGGGCCTTTTATGAAGATTTCATTGGAATAGGCATGATCGACAACCACGAAGAAATGTGACTGTACACAAAGGGTATAATCTAATACTAATAGGCTAAGCGGGAATACCTGGTGAGGCCTGTCTGTCCAGATCCTTCTTGGTCTATCTGTGCAACATTTCTTCCTCCAGGATATGGGGCAGGACCCTTCTAAAATGACGGGCTGATAGCGTATTAACAAAAAGGTGGAGGAAGGTTAGAATGCTGCCTTGGGCTGGTAAAAGGAGGGCAGGGTAAGGTCAGAAAGAGAAATTGTTTTCTGAGGCCTAAAGTGCCCCAACATTATAACAAGGGCTATGGTAATTATGAGCCAAGAACCATACATGAAAAGCTACACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCATAAACTAACATCACAATACTCAAGTTAATTGGGATAATATTTGTAATTTGCCACATCAACCATATTTCAAGTTTTAAACATATTTCTCAAAGTACAAAACTCTTTTATAAATTGATAGGTTTCCTAAAAGAGGTGGGTAGAGATAAGTGAAAAAATGGGCCAATAGGATAAAAGACATAGGAGAAAGCACACTCTGATAATGTCTGTTTGAATAGTCTCAACTCTTACAACATCTTAATGTTTCACATGCCAACAGCTAAATAAGTAAACTTGAATGTATGAGCAATGCAACATTCAACACAGACAGTAACAAATAATCATAATTATATTATAAACAAATTGTGTAACTGAAGTGAAGGAGGGTGAGGAAGAAATAATGAATGCAAGTAATTTTGGAAAATAGTATCTGACTATATAAGGCTGAAGACAAAATAACTGTACACATATATTAGACAATATCTAGTAAATCTGTATTTTTCTCACAATTCTGAAGCTAATCTATGTATATAATGGGACTGAGAAAATAATT
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Task1_train_5895
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A genomic change on Chromosome 3 affects GRM7 (glutamate metabotropic receptor 7). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Global developmental delay
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CAAATGAATAATCATAACAGTATCATTAAGAACCAAGATTGTCCTCATGAGAGAAAGGAAGTAGAGATTTAAGAGTGTCAAGGTTAAGCAAAAACTCTGTAGTCCTGAATTTGAATGGGAAATAGCTGCATAAATTCATGATAAATTTTATCTTTAAAAAAAAATCCTATACTATATACACTGAAAAACCCTAGATCCCGTGACAGGCAGTGAGCATAAAGTTGATTTGGTATTTAAATGAGATACATATAAAACACAACTCTCTGGCATATGAGATATTAATGGTGCTCTGAAATGGAAAAATACAAATTCAAGTAAATTTGGGAAATTCTGAATTTCCCTCTTGGAGGTTACATTTTATGTTATATGTTAAATGTTCTGGAAAAGTCAGTGAAGCAACCTAAAACATTTTAGCACAGTGGCTGTCCGGAACCCTTTGTGTGTTTTGCAGGAAAAGGGGTTGAGGTTGTAGAACTCTTATTGTGAGGTTGTAGAACTCTTATTGTTTCTTCACTACACAAATGTGCCGTAGGAAACAATTTGGAAAATATTGCTGTGAAAGTGAAATGCAATTTGTGGATAATTCTTCTTCATAGAGGGACAAGAGGTCTAGAGAGAGCTACTGGTGTCGTGTACTTAATGAATGCATAATTTAATGCAACAAGTGTTATTTAGTATCTACTGGATGCTAAAGGCTATGTTCAATGGTGGGGATCCAAAGGTAAAAACAAGAAAAATGTCTTGGACACCTGGTAGAGCATTAAAATATGATTCTATATTGACAGTGCTATAAGCAAGATTTGAAATGTTTTACGGGAATGTTGAATTGCGACTGAGCGCCTCGGTGTGACAAACAGTTGGGAATTAAGTATGATGGTGAAAGCAAAGAGGAAGGATCTCCCTGGCAAAGTAAACAGCATGAGCAAAGATAGTTTAACAGCAACAATAGTCACACCTATCTGGAAGAATAAAGGAAAATAAATGTGAGAGGGTAGGCAGGGTCCAGGTAATGAAAAGAATGTGGGCTTTGGGGTCTGACAAGCCTGGGCCATCATCATTGCTCTACCTGTAAATGACCTTTGGAAGGTGATTTAACCTCTATAAGGCTCAGCTTTCCCACTGGTATCATAAGGATAAAAAAAATTACCTCACAAAGTGATGATGACATAAAAATCCCACATCCACAGCTTTCAACACAGTGTGGGCACTTAGTCAATATCAGTTGTTATCATTATTAGGCAGATGGGAGCAAAATGGTAAATATCTACTGTGACCAGTGAAAGGGATCTGGATTTAATCTGTAGTCAGCAGACAGCCATTGAGGGACTCTTAGTGTAGGAATGATGTGACTAGCTCTGTAGTTTGCAAAGGTGAACGTGGAGGAATGAATGGATGAAAGGAGACATTGAGCATTGCACGTGATGGAAAATGGTGGGAGGCATAAAGAGGCCATTGGTGGAGTGTTTGACACTGTTCAGTACTTCACAGGTAGGACTGCTAGAATTCATTAGACTTACATATGTGAGAGCTGGGATTGTGAAAGGGAAGAGAAAGAAAACGGACATCAGTGTTTCTAGCCTGAGCATCTGAATCTCCAGTAATACTAACAATCGAGACAGGCAACAGAGACGGTACAATAGGTGTGTAGAAAGTAATGAATTCAGGTGTGGAATTTAGTTTGTTTTCTGTCATTATCCATTTGACCTTTCTAGAGTAAGCGAGCTTTTCAGGTTCGAATGTGGCAACCCAGCTTCTGATCTCAAAGATCCTTTTATTCTAAGGGACCACTATATTTTGAATAGTATGTAAGGTGTCACAAAGTAAAATACTACAAGCTATTAGAGAAACCTAACATGGTAGCTGGATATGGATACCAACTGGCTATCACGTGGTAGGCAAATGTGGCTTGAATTACTGTATTTATCGAAGCAGTGTTTTCTTTAAGCATAATTGAAAGTTTACTTTTAAATTTGGACATTCTACTCAATGCCAATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTCTTGTTTTAATGTGCAGGACAGGAGAGAATTGGAAAAGATTCCAACTATGAGCAGGAGGGTAAAGTCCAGTTCGTGATTGACGCAGTCTATGCTATGGCTCACGCCCTTCACCACATGAACAAGGATCTCTGTGCTGACTACCGGGGTGTCTGCCCAGAGATGGAGCAAGCTGGAGGCAAGAAGTTGCTGAAGTATATACGCAATGTTAATTTCAATGGTGAGTCTCCAAAAATCCATCCTTTTTGGAATCCTAAGTGTTGGCATTCTGTTTCATAAGTTTTAAATGTCTATTATTATTTACTTTAAAATATGTGTCAAAACTTGCTTGATTATAAAACTTTAAATGATTGAATCAATGCATGAATGAGCAAATGAATGTAAGAATGAGTTAAGATATATTTGGGGGTTATGGTTTGGTCTCATTTTCTTGAAATAGAGATTTTTTTTTTTTTTTTGCACTATGCCAAATTCTTCTTTGGTGAATTTAGGTGGGTATAGGATGGAAGAGGAAGGGAAAGGAGCAGTTGCTGTAGGTACCTCTGAATATGGAAAAACTGAAGTCATTTTTCCTCTGCTCTCATACCACAACAGGAATTCACACAGAAGACTTCTGTGACCAAATGTCAGTGGAGAGGTTTCCCCCACACACCAAGCTAGCAATAAATTCTGCAGTGGACACAAGCTGACTGTCCTCTACTTCAATTCCTACATGATCTATCTGGCATGCTGTGAAACCCCACAAGTTGGAGGCTTAGTTCCCAAGACTCTTCCCCTTGCCACTTGCAATGACAGTGGCAAACCCTAGGTTGTTTTGTCTGGGCTTCTGATGGTCCGGCTATAAACTGGAATTTTCACAATCTCCTCCTCAGGTTTGATTAATTTGCTAGAGCAACTCACAAAACTCAGTAAAACACTTACTTAAATTTATTACAAAAGGTATTTTAAAGGACACAAATAAACCTCCAGATGAAGAGATCCTAGGGCAAAGTCTGAAAGGGTCCTGAGAGTAGGAGTTTCTGTCCTCAGGGATTTGGGGTGTGCTGGCCTCCCCTGCACAAAGATGAGTTCTTGCTCACTTTCCTGTCAGCCTCCATGTGTTCAACTCTGAACCTTGTCCTCTTGGGCCTTTTATGAAGATTTCATTGGAATAGGCATGATCGACAACCACGAAGAAATGTGACTGTACACAAAGGGTATAATCTAATACTAATAGGCTAAGCGGGAATACCTGGTGAGGCCTGTCTGTCCAGATCCTTCTTGGTCTATCTGTGCAACATTTCTTCCTCCAGGATATGGGGCAGGACCCTTCTAAAATGACGGGCTGATAGCGTATTAACAAAAAGGTGGAGGAAGGTTAGAATGCTGCCTTGGGCTGGTAAAAGGAGGGCAGGGTAAGGTCAGAAAGAGAAATTGTTTTCTGAGGCCTAAAGTGCCCCAACATTATAACAAGGGCTATGGTAATTATGAGCCAAGAACCATACATGAAAAGCTACACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCATAAACTAACATCACAATACTCAAGTTAATTGGGATAATATTTGTAATTTGCCACATCAACCATATTTCAAGTTTTAAACATATTTCTCAAAGTACAAAACTCTTTTATAAATTGATAGGTTTCCTAAAAGAGGTGGGTAGAGATAAGTGAAAAAATGGGCCAATAGGATAAAAGACATAGGAGAAAGCACACTCTGATAATGTCTGTTTGAATAGTCTCAACTCTTACAACATCTTAATGTTTCACATGCCAACAGCTAAATAAGTAAACTTGAATGTATGAGCAATGCAACATTCAACACAGACAGTAACAAATAATCATAATTATATTATAAACAAATTGTGTAACTGAAGTGAAGGAGGGTGAGGAAGAAATAATGAATGCAAGTAATTTTGGAAAATAGTATCTGACTATATAAGGCTGAAGACAAAATAACTGTACACATATATTAGACAATATCTAGTAAATCTGTATTTTTCTCACAATTCTGAAGCTAATCTATGTATATAATGGGACTGAGAAAATAATT
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CAAATGAATAATCATAACAGTATCATTAAGAACCAAGATTGTCCTCATGAGAGAAAGGAAGTAGAGATTTAAGAGTGTCAAGGTTAAGCAAAAACTCTGTAGTCCTGAATTTGAATGGGAAATAGCTGCATAAATTCATGATAAATTTTATCTTTAAAAAAAAATCCTATACTATATACACTGAAAAACCCTAGATCCCGTGACAGGCAGTGAGCATAAAGTTGATTTGGTATTTAAATGAGATACATATAAAACACAACTCTCTGGCATATGAGATATTAATGGTGCTCTGAAATGGAAAAATACAAATTCAAGTAAATTTGGGAAATTCTGAATTTCCCTCTTGGAGGTTACATTTTATGTTATATGTTAAATGTTCTGGAAAAGTCAGTGAAGCAACCTAAAACATTTTAGCACAGTGGCTGTCCGGAACCCTTTGTGTGTTTTGCAGGAAAAGGGGTTGAGGTTGTAGAACTCTTATTGTGAGGTTGTAGAACTCTTATTGTTTCTTCACTACACAAATGTGCCGTAGGAAACAATTTGGAAAATATTGCTGTGAAAGTGAAATGCAATTTGTGGATAATTCTTCTTCATAGAGGGACAAGAGGTCTAGAGAGAGCTACTGGTGTCGTGTACTTAATGAATGCATAATTTAATGCAACAAGTGTTATTTAGTATCTACTGGATGCTAAAGGCTATGTTCAATGGTGGGGATCCAAAGGTAAAAACAAGAAAAATGTCTTGGACACCTGGTAGAGCATTAAAATATGATTCTATATTGACAGTGCTATAAGCAAGATTTGAAATGTTTTACGGGAATGTTGAATTGCGACTGAGCGCCTCGGTGTGACAAACAGTTGGGAATTAAGTATGATGGTGAAAGCAAAGAGGAAGGATCTCCCTGGCAAAGTAAACAGCATGAGCAAAGATAGTTTAACAGCAACAATAGTCACACCTATCTGGAAGAATAAAGGAAAATAAATGTGAGAGGGTAGGCAGGGTCCAGGTAATGAAAAGAATGTGGGCTTTGGGGTCTGACAAGCCTGGGCCATCATCATTGCTCTACCTGTAAATGACCTTTGGAAGGTGATTTAACCTCTATAAGGCTCAGCTTTCCCACTGGTATCATAAGGATAAAAAAAATTACCTCACAAAGTGATGATGACATAAAAATCCCACATCCACAGCTTTCAACACAGTGTGGGCACTTAGTCAATATCAGTTGTTATCATTATTAGGCAGATGGGAGCAAAATGGTAAATATCTACTGTGACCAGTGAAAGGGATCTGGATTTAATCTGTAGTCAGCAGACAGCCATTGAGGGACTCTTAGTGTAGGAATGATGTGACTAGCTCTGTAGTTTGCAAAGGTGAACGTGGAGGAATGAATGGATGAAAGGAGACATTGAGCATTGCACGTGATGGAAAATGGTGGGAGGCATAAAGAGGCCATTGGTGGAGTGTTTGACACTGTTCAGTACTTCACAGGTAGGACTGCTAGAATTCATTAGACTTACATATGTGAGAGCTGGGATTGTGAAAGGGAAGAGAAAGAAAACGGACATCAGTGTTTCTAGCCTGAGCATCTGAATCTCCAGTAATACTAACAATCGAGACAGGCAACAGAGACGGTACAATAGGTGTGTAGAAAGTAATGAATTCAGGTGTGGAATTTAGTTTGTTTTCTGTCATTATCCATTTGACCTTTCTAGAGTAAGCGAGCTTTTCAGGTTCGAATGTGGCAACCCAGCTTCTGATCTCAAAGATCCTTTTATTCTAAGGGACCACTATATTTTGAATAGTATGTAAGGTGTCACAAAGTAAAATACTACAAGCTATTAGAGAAACCTAACATGGTAGCTGGATATGGATACCAACTGGCTATCACGTGGTAGGCAAATGTGGCTTGAATTACTGTATTTATCGAAGCAGTGTTTTCTTTAAGCATAATTGAAAGTTTACTTTTAAATTTGGACATTCTACTCAATGCCAATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTCTTGTTTTAATGTGCAGGACAGAAGAGAATTGGAAAAGATTCCAACTATGAGCAGGAGGGTAAAGTCCAGTTCGTGATTGACGCAGTCTATGCTATGGCTCACGCCCTTCACCACATGAACAAGGATCTCTGTGCTGACTACCGGGGTGTCTGCCCAGAGATGGAGCAAGCTGGAGGCAAGAAGTTGCTGAAGTATATACGCAATGTTAATTTCAATGGTGAGTCTCCAAAAATCCATCCTTTTTGGAATCCTAAGTGTTGGCATTCTGTTTCATAAGTTTTAAATGTCTATTATTATTTACTTTAAAATATGTGTCAAAACTTGCTTGATTATAAAACTTTAAATGATTGAATCAATGCATGAATGAGCAAATGAATGTAAGAATGAGTTAAGATATATTTGGGGGTTATGGTTTGGTCTCATTTTCTTGAAATAGAGATTTTTTTTTTTTTTTTGCACTATGCCAAATTCTTCTTTGGTGAATTTAGGTGGGTATAGGATGGAAGAGGAAGGGAAAGGAGCAGTTGCTGTAGGTACCTCTGAATATGGAAAAACTGAAGTCATTTTTCCTCTGCTCTCATACCACAACAGGAATTCACACAGAAGACTTCTGTGACCAAATGTCAGTGGAGAGGTTTCCCCCACACACCAAGCTAGCAATAAATTCTGCAGTGGACACAAGCTGACTGTCCTCTACTTCAATTCCTACATGATCTATCTGGCATGCTGTGAAACCCCACAAGTTGGAGGCTTAGTTCCCAAGACTCTTCCCCTTGCCACTTGCAATGACAGTGGCAAACCCTAGGTTGTTTTGTCTGGGCTTCTGATGGTCCGGCTATAAACTGGAATTTTCACAATCTCCTCCTCAGGTTTGATTAATTTGCTAGAGCAACTCACAAAACTCAGTAAAACACTTACTTAAATTTATTACAAAAGGTATTTTAAAGGACACAAATAAACCTCCAGATGAAGAGATCCTAGGGCAAAGTCTGAAAGGGTCCTGAGAGTAGGAGTTTCTGTCCTCAGGGATTTGGGGTGTGCTGGCCTCCCCTGCACAAAGATGAGTTCTTGCTCACTTTCCTGTCAGCCTCCATGTGTTCAACTCTGAACCTTGTCCTCTTGGGCCTTTTATGAAGATTTCATTGGAATAGGCATGATCGACAACCACGAAGAAATGTGACTGTACACAAAGGGTATAATCTAATACTAATAGGCTAAGCGGGAATACCTGGTGAGGCCTGTCTGTCCAGATCCTTCTTGGTCTATCTGTGCAACATTTCTTCCTCCAGGATATGGGGCAGGACCCTTCTAAAATGACGGGCTGATAGCGTATTAACAAAAAGGTGGAGGAAGGTTAGAATGCTGCCTTGGGCTGGTAAAAGGAGGGCAGGGTAAGGTCAGAAAGAGAAATTGTTTTCTGAGGCCTAAAGTGCCCCAACATTATAACAAGGGCTATGGTAATTATGAGCCAAGAACCATACATGAAAAGCTACACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCATAAACTAACATCACAATACTCAAGTTAATTGGGATAATATTTGTAATTTGCCACATCAACCATATTTCAAGTTTTAAACATATTTCTCAAAGTACAAAACTCTTTTATAAATTGATAGGTTTCCTAAAAGAGGTGGGTAGAGATAAGTGAAAAAATGGGCCAATAGGATAAAAGACATAGGAGAAAGCACACTCTGATAATGTCTGTTTGAATAGTCTCAACTCTTACAACATCTTAATGTTTCACATGCCAACAGCTAAATAAGTAAACTTGAATGTATGAGCAATGCAACATTCAACACAGACAGTAACAAATAATCATAATTATATTATAAACAAATTGTGTAACTGAAGTGAAGGAGGGTGAGGAAGAAATAATGAATGCAAGTAATTTTGGAAAATAGTATCTGACTATATAAGGCTGAAGACAAAATAACTGTACACATATATTAGACAATATCTAGTAAATCTGTATTTTTCTCACAATTCTGAAGCTAATCTATGTATATAATGGGACTGAGAAAATAATT
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Task1_train_5896
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With a mutation on Chromosome 3 in gene GRM7 (glutamate metabotropic receptor 7), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Microcephaly
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CAAATGAATAATCATAACAGTATCATTAAGAACCAAGATTGTCCTCATGAGAGAAAGGAAGTAGAGATTTAAGAGTGTCAAGGTTAAGCAAAAACTCTGTAGTCCTGAATTTGAATGGGAAATAGCTGCATAAATTCATGATAAATTTTATCTTTAAAAAAAAATCCTATACTATATACACTGAAAAACCCTAGATCCCGTGACAGGCAGTGAGCATAAAGTTGATTTGGTATTTAAATGAGATACATATAAAACACAACTCTCTGGCATATGAGATATTAATGGTGCTCTGAAATGGAAAAATACAAATTCAAGTAAATTTGGGAAATTCTGAATTTCCCTCTTGGAGGTTACATTTTATGTTATATGTTAAATGTTCTGGAAAAGTCAGTGAAGCAACCTAAAACATTTTAGCACAGTGGCTGTCCGGAACCCTTTGTGTGTTTTGCAGGAAAAGGGGTTGAGGTTGTAGAACTCTTATTGTGAGGTTGTAGAACTCTTATTGTTTCTTCACTACACAAATGTGCCGTAGGAAACAATTTGGAAAATATTGCTGTGAAAGTGAAATGCAATTTGTGGATAATTCTTCTTCATAGAGGGACAAGAGGTCTAGAGAGAGCTACTGGTGTCGTGTACTTAATGAATGCATAATTTAATGCAACAAGTGTTATTTAGTATCTACTGGATGCTAAAGGCTATGTTCAATGGTGGGGATCCAAAGGTAAAAACAAGAAAAATGTCTTGGACACCTGGTAGAGCATTAAAATATGATTCTATATTGACAGTGCTATAAGCAAGATTTGAAATGTTTTACGGGAATGTTGAATTGCGACTGAGCGCCTCGGTGTGACAAACAGTTGGGAATTAAGTATGATGGTGAAAGCAAAGAGGAAGGATCTCCCTGGCAAAGTAAACAGCATGAGCAAAGATAGTTTAACAGCAACAATAGTCACACCTATCTGGAAGAATAAAGGAAAATAAATGTGAGAGGGTAGGCAGGGTCCAGGTAATGAAAAGAATGTGGGCTTTGGGGTCTGACAAGCCTGGGCCATCATCATTGCTCTACCTGTAAATGACCTTTGGAAGGTGATTTAACCTCTATAAGGCTCAGCTTTCCCACTGGTATCATAAGGATAAAAAAAATTACCTCACAAAGTGATGATGACATAAAAATCCCACATCCACAGCTTTCAACACAGTGTGGGCACTTAGTCAATATCAGTTGTTATCATTATTAGGCAGATGGGAGCAAAATGGTAAATATCTACTGTGACCAGTGAAAGGGATCTGGATTTAATCTGTAGTCAGCAGACAGCCATTGAGGGACTCTTAGTGTAGGAATGATGTGACTAGCTCTGTAGTTTGCAAAGGTGAACGTGGAGGAATGAATGGATGAAAGGAGACATTGAGCATTGCACGTGATGGAAAATGGTGGGAGGCATAAAGAGGCCATTGGTGGAGTGTTTGACACTGTTCAGTACTTCACAGGTAGGACTGCTAGAATTCATTAGACTTACATATGTGAGAGCTGGGATTGTGAAAGGGAAGAGAAAGAAAACGGACATCAGTGTTTCTAGCCTGAGCATCTGAATCTCCAGTAATACTAACAATCGAGACAGGCAACAGAGACGGTACAATAGGTGTGTAGAAAGTAATGAATTCAGGTGTGGAATTTAGTTTGTTTTCTGTCATTATCCATTTGACCTTTCTAGAGTAAGCGAGCTTTTCAGGTTCGAATGTGGCAACCCAGCTTCTGATCTCAAAGATCCTTTTATTCTAAGGGACCACTATATTTTGAATAGTATGTAAGGTGTCACAAAGTAAAATACTACAAGCTATTAGAGAAACCTAACATGGTAGCTGGATATGGATACCAACTGGCTATCACGTGGTAGGCAAATGTGGCTTGAATTACTGTATTTATCGAAGCAGTGTTTTCTTTAAGCATAATTGAAAGTTTACTTTTAAATTTGGACATTCTACTCAATGCCAATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTCTTGTTTTAATGTGCAGGACAGGAGAGAATTGGAAAAGATTCCAACTATGAGCAGGAGGGTAAAGTCCAGTTCGTGATTGACGCAGTCTATGCTATGGCTCACGCCCTTCACCACATGAACAAGGATCTCTGTGCTGACTACCGGGGTGTCTGCCCAGAGATGGAGCAAGCTGGAGGCAAGAAGTTGCTGAAGTATATACGCAATGTTAATTTCAATGGTGAGTCTCCAAAAATCCATCCTTTTTGGAATCCTAAGTGTTGGCATTCTGTTTCATAAGTTTTAAATGTCTATTATTATTTACTTTAAAATATGTGTCAAAACTTGCTTGATTATAAAACTTTAAATGATTGAATCAATGCATGAATGAGCAAATGAATGTAAGAATGAGTTAAGATATATTTGGGGGTTATGGTTTGGTCTCATTTTCTTGAAATAGAGATTTTTTTTTTTTTTTTGCACTATGCCAAATTCTTCTTTGGTGAATTTAGGTGGGTATAGGATGGAAGAGGAAGGGAAAGGAGCAGTTGCTGTAGGTACCTCTGAATATGGAAAAACTGAAGTCATTTTTCCTCTGCTCTCATACCACAACAGGAATTCACACAGAAGACTTCTGTGACCAAATGTCAGTGGAGAGGTTTCCCCCACACACCAAGCTAGCAATAAATTCTGCAGTGGACACAAGCTGACTGTCCTCTACTTCAATTCCTACATGATCTATCTGGCATGCTGTGAAACCCCACAAGTTGGAGGCTTAGTTCCCAAGACTCTTCCCCTTGCCACTTGCAATGACAGTGGCAAACCCTAGGTTGTTTTGTCTGGGCTTCTGATGGTCCGGCTATAAACTGGAATTTTCACAATCTCCTCCTCAGGTTTGATTAATTTGCTAGAGCAACTCACAAAACTCAGTAAAACACTTACTTAAATTTATTACAAAAGGTATTTTAAAGGACACAAATAAACCTCCAGATGAAGAGATCCTAGGGCAAAGTCTGAAAGGGTCCTGAGAGTAGGAGTTTCTGTCCTCAGGGATTTGGGGTGTGCTGGCCTCCCCTGCACAAAGATGAGTTCTTGCTCACTTTCCTGTCAGCCTCCATGTGTTCAACTCTGAACCTTGTCCTCTTGGGCCTTTTATGAAGATTTCATTGGAATAGGCATGATCGACAACCACGAAGAAATGTGACTGTACACAAAGGGTATAATCTAATACTAATAGGCTAAGCGGGAATACCTGGTGAGGCCTGTCTGTCCAGATCCTTCTTGGTCTATCTGTGCAACATTTCTTCCTCCAGGATATGGGGCAGGACCCTTCTAAAATGACGGGCTGATAGCGTATTAACAAAAAGGTGGAGGAAGGTTAGAATGCTGCCTTGGGCTGGTAAAAGGAGGGCAGGGTAAGGTCAGAAAGAGAAATTGTTTTCTGAGGCCTAAAGTGCCCCAACATTATAACAAGGGCTATGGTAATTATGAGCCAAGAACCATACATGAAAAGCTACACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCATAAACTAACATCACAATACTCAAGTTAATTGGGATAATATTTGTAATTTGCCACATCAACCATATTTCAAGTTTTAAACATATTTCTCAAAGTACAAAACTCTTTTATAAATTGATAGGTTTCCTAAAAGAGGTGGGTAGAGATAAGTGAAAAAATGGGCCAATAGGATAAAAGACATAGGAGAAAGCACACTCTGATAATGTCTGTTTGAATAGTCTCAACTCTTACAACATCTTAATGTTTCACATGCCAACAGCTAAATAAGTAAACTTGAATGTATGAGCAATGCAACATTCAACACAGACAGTAACAAATAATCATAATTATATTATAAACAAATTGTGTAACTGAAGTGAAGGAGGGTGAGGAAGAAATAATGAATGCAAGTAATTTTGGAAAATAGTATCTGACTATATAAGGCTGAAGACAAAATAACTGTACACATATATTAGACAATATCTAGTAAATCTGTATTTTTCTCACAATTCTGAAGCTAATCTATGTATATAATGGGACTGAGAAAATAATT
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CAAATGAATAATCATAACAGTATCATTAAGAACCAAGATTGTCCTCATGAGAGAAAGGAAGTAGAGATTTAAGAGTGTCAAGGTTAAGCAAAAACTCTGTAGTCCTGAATTTGAATGGGAAATAGCTGCATAAATTCATGATAAATTTTATCTTTAAAAAAAAATCCTATACTATATACACTGAAAAACCCTAGATCCCGTGACAGGCAGTGAGCATAAAGTTGATTTGGTATTTAAATGAGATACATATAAAACACAACTCTCTGGCATATGAGATATTAATGGTGCTCTGAAATGGAAAAATACAAATTCAAGTAAATTTGGGAAATTCTGAATTTCCCTCTTGGAGGTTACATTTTATGTTATATGTTAAATGTTCTGGAAAAGTCAGTGAAGCAACCTAAAACATTTTAGCACAGTGGCTGTCCGGAACCCTTTGTGTGTTTTGCAGGAAAAGGGGTTGAGGTTGTAGAACTCTTATTGTGAGGTTGTAGAACTCTTATTGTTTCTTCACTACACAAATGTGCCGTAGGAAACAATTTGGAAAATATTGCTGTGAAAGTGAAATGCAATTTGTGGATAATTCTTCTTCATAGAGGGACAAGAGGTCTAGAGAGAGCTACTGGTGTCGTGTACTTAATGAATGCATAATTTAATGCAACAAGTGTTATTTAGTATCTACTGGATGCTAAAGGCTATGTTCAATGGTGGGGATCCAAAGGTAAAAACAAGAAAAATGTCTTGGACACCTGGTAGAGCATTAAAATATGATTCTATATTGACAGTGCTATAAGCAAGATTTGAAATGTTTTACGGGAATGTTGAATTGCGACTGAGCGCCTCGGTGTGACAAACAGTTGGGAATTAAGTATGATGGTGAAAGCAAAGAGGAAGGATCTCCCTGGCAAAGTAAACAGCATGAGCAAAGATAGTTTAACAGCAACAATAGTCACACCTATCTGGAAGAATAAAGGAAAATAAATGTGAGAGGGTAGGCAGGGTCCAGGTAATGAAAAGAATGTGGGCTTTGGGGTCTGACAAGCCTGGGCCATCATCATTGCTCTACCTGTAAATGACCTTTGGAAGGTGATTTAACCTCTATAAGGCTCAGCTTTCCCACTGGTATCATAAGGATAAAAAAAATTACCTCACAAAGTGATGATGACATAAAAATCCCACATCCACAGCTTTCAACACAGTGTGGGCACTTAGTCAATATCAGTTGTTATCATTATTAGGCAGATGGGAGCAAAATGGTAAATATCTACTGTGACCAGTGAAAGGGATCTGGATTTAATCTGTAGTCAGCAGACAGCCATTGAGGGACTCTTAGTGTAGGAATGATGTGACTAGCTCTGTAGTTTGCAAAGGTGAACGTGGAGGAATGAATGGATGAAAGGAGACATTGAGCATTGCACGTGATGGAAAATGGTGGGAGGCATAAAGAGGCCATTGGTGGAGTGTTTGACACTGTTCAGTACTTCACAGGTAGGACTGCTAGAATTCATTAGACTTACATATGTGAGAGCTGGGATTGTGAAAGGGAAGAGAAAGAAAACGGACATCAGTGTTTCTAGCCTGAGCATCTGAATCTCCAGTAATACTAACAATCGAGACAGGCAACAGAGACGGTACAATAGGTGTGTAGAAAGTAATGAATTCAGGTGTGGAATTTAGTTTGTTTTCTGTCATTATCCATTTGACCTTTCTAGAGTAAGCGAGCTTTTCAGGTTCGAATGTGGCAACCCAGCTTCTGATCTCAAAGATCCTTTTATTCTAAGGGACCACTATATTTTGAATAGTATGTAAGGTGTCACAAAGTAAAATACTACAAGCTATTAGAGAAACCTAACATGGTAGCTGGATATGGATACCAACTGGCTATCACGTGGTAGGCAAATGTGGCTTGAATTACTGTATTTATCGAAGCAGTGTTTTCTTTAAGCATAATTGAAAGTTTACTTTTAAATTTGGACATTCTACTCAATGCCAATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTCTTGTTTTAATGTGCAGGACAGAAGAGAATTGGAAAAGATTCCAACTATGAGCAGGAGGGTAAAGTCCAGTTCGTGATTGACGCAGTCTATGCTATGGCTCACGCCCTTCACCACATGAACAAGGATCTCTGTGCTGACTACCGGGGTGTCTGCCCAGAGATGGAGCAAGCTGGAGGCAAGAAGTTGCTGAAGTATATACGCAATGTTAATTTCAATGGTGAGTCTCCAAAAATCCATCCTTTTTGGAATCCTAAGTGTTGGCATTCTGTTTCATAAGTTTTAAATGTCTATTATTATTTACTTTAAAATATGTGTCAAAACTTGCTTGATTATAAAACTTTAAATGATTGAATCAATGCATGAATGAGCAAATGAATGTAAGAATGAGTTAAGATATATTTGGGGGTTATGGTTTGGTCTCATTTTCTTGAAATAGAGATTTTTTTTTTTTTTTTGCACTATGCCAAATTCTTCTTTGGTGAATTTAGGTGGGTATAGGATGGAAGAGGAAGGGAAAGGAGCAGTTGCTGTAGGTACCTCTGAATATGGAAAAACTGAAGTCATTTTTCCTCTGCTCTCATACCACAACAGGAATTCACACAGAAGACTTCTGTGACCAAATGTCAGTGGAGAGGTTTCCCCCACACACCAAGCTAGCAATAAATTCTGCAGTGGACACAAGCTGACTGTCCTCTACTTCAATTCCTACATGATCTATCTGGCATGCTGTGAAACCCCACAAGTTGGAGGCTTAGTTCCCAAGACTCTTCCCCTTGCCACTTGCAATGACAGTGGCAAACCCTAGGTTGTTTTGTCTGGGCTTCTGATGGTCCGGCTATAAACTGGAATTTTCACAATCTCCTCCTCAGGTTTGATTAATTTGCTAGAGCAACTCACAAAACTCAGTAAAACACTTACTTAAATTTATTACAAAAGGTATTTTAAAGGACACAAATAAACCTCCAGATGAAGAGATCCTAGGGCAAAGTCTGAAAGGGTCCTGAGAGTAGGAGTTTCTGTCCTCAGGGATTTGGGGTGTGCTGGCCTCCCCTGCACAAAGATGAGTTCTTGCTCACTTTCCTGTCAGCCTCCATGTGTTCAACTCTGAACCTTGTCCTCTTGGGCCTTTTATGAAGATTTCATTGGAATAGGCATGATCGACAACCACGAAGAAATGTGACTGTACACAAAGGGTATAATCTAATACTAATAGGCTAAGCGGGAATACCTGGTGAGGCCTGTCTGTCCAGATCCTTCTTGGTCTATCTGTGCAACATTTCTTCCTCCAGGATATGGGGCAGGACCCTTCTAAAATGACGGGCTGATAGCGTATTAACAAAAAGGTGGAGGAAGGTTAGAATGCTGCCTTGGGCTGGTAAAAGGAGGGCAGGGTAAGGTCAGAAAGAGAAATTGTTTTCTGAGGCCTAAAGTGCCCCAACATTATAACAAGGGCTATGGTAATTATGAGCCAAGAACCATACATGAAAAGCTACACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCATAAACTAACATCACAATACTCAAGTTAATTGGGATAATATTTGTAATTTGCCACATCAACCATATTTCAAGTTTTAAACATATTTCTCAAAGTACAAAACTCTTTTATAAATTGATAGGTTTCCTAAAAGAGGTGGGTAGAGATAAGTGAAAAAATGGGCCAATAGGATAAAAGACATAGGAGAAAGCACACTCTGATAATGTCTGTTTGAATAGTCTCAACTCTTACAACATCTTAATGTTTCACATGCCAACAGCTAAATAAGTAAACTTGAATGTATGAGCAATGCAACATTCAACACAGACAGTAACAAATAATCATAATTATATTATAAACAAATTGTGTAACTGAAGTGAAGGAGGGTGAGGAAGAAATAATGAATGCAAGTAATTTTGGAAAATAGTATCTGACTATATAAGGCTGAAGACAAAATAACTGTACACATATATTAGACAATATCTAGTAAATCTGTATTTTTCTCACAATTCTGAAGCTAATCTATGTATATAATGGGACTGAGAAAATAATT
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Task1_train_5897
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The gene GRM7 (glutamate metabotropic receptor 7) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
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TGAAAAAAGAAAACATATGTGTACACACATACAAATATACATAAGCATATATGCATGTATAATTTATAATTATAAATAATAAAACAAGAAGTCTGAATAATTTCATCAACTGCAAAATTCACTCATAAGCAGAGAAACAGAAACAAAACCTAAGATCCCATAGGTTTGTTGACATCCTTTTCCTTTTTGAACTAAGCCATGGTTTGCAAATCTCTCATAAGTACGGTGACAGTGGTGACAAAAATTGTCTATGTCTATAAAGCCCTGTGACCATGTAAAGCCTTTCTTGAACAGTGTAGGCTGGCAAGGTGGAATGACATTAAAAGTCTAAAGGTATGCTAGTAGGGAAATATGAACTTTAAAAATATGAACTAATTTACACTTTAAAGAGTCATTAATTCAACATTGTTTTGTCTTTCTATGTTACATTCATTATGTATTATAGTCAGCAGCTGGTAGCTCCTTTTAACCGTTTGGAGACATACATATTCAAATTAATGTTGGCTAGAAAACTGTATTATTTCCAGACGAGATGGCAAAGTTGTCTTTGATTTCACTAGGGCCTCTGTTTGAAGAATTAAGATCAGAAATGTCCAGGCAGCCAATATGTCTGATGGAAATTTTTGTATAGCGATAGGCTGTTTAACCAGTGAGTTATAGGTAGGAAAAAGGTGTCCATTAGACAAACACATGAGCCTATCCATTGTATGTTTATCAAGTGCCTTCTTTGCAGACAATAATAATGTCCCAGAAAGACAGATCCTGCCTTCATGGAACTTAAGGCCTAGCAGGAAAATGGGCAGAAAAATGATCAAGATACTGAGTGCATAATTACAACAGAGACAAATGATCTAAAGAAGTCCTTTGAGAGTGTATCAGTAAAGAAGCTGGCCTAGACTTGAGGCTGTGAGTGCGGGCAGCCTGGGATGGGCATGCTAAGAAGAAAAGGAGGAACGTTCCATACGTAGGAAAACAAAAATAAAGAAAAGGGGCATGGAGAAAAGTTCTGTGATTGAATGAGTACAGTTCATTCATGATCTAAAGGACAGCCCAAATGGACGGAACCCTGGGAAGGCAAGACAGGGGATCAGGGGGTCAGGGAGTTGGGAAATAGTGGACAATTAGTCTAAAACAGTAGGCAAGCACAAACCATCCAAACTGCAAATAACACAACTCCAGAATAAGGCGTTGCATCTCATTAGTAATTTGACAATATAGAGTAGACAAGCCAACATCACTAGATCTTGTTCACTTGTCACTTGTGTTTTATAAGACAGAATTAAGCAAGAAGATCTTAGTTTTCAGAGAAAGTCAACTCACTATTCAGCAGATAGGGAAAAGGCGTGCCTTTCTAGAAAACAATATAAAAAGAGACATACATTAAGATAAAGACTTCTCAAAAGGCCCCAGAATCTCAATGTAGGAAGAAATCATGGAGTGTGAACCCTCTTTTACATGTATGAAAGATAAAACCTAACCACACCTTAATCAAGATTACAGATTTCTATGGTCTTCATGTCTTTATATTTAGCTGCCACTTCAATTAGAAGTCCTTCAAATATGATTAAAGGTTTACTCTGAACTTTAATATAAGAGACTTCTGTAGGGCAAGCATGTGCATGGATTGACCCAATAGCATTCAATCAATTAATACATGCATATGCTCTCCAATAACTGTGCAGAGTTATTGTGCTTTCCTTTATTTATCAAAATGCCCTGAAGATTGCTTTATCTCCTAGCCATAGTCGTTCTTGACATCGCTTTAAGTGTTCAGACCCCTACTGCAGTCATTTTATTTGTAATAGTGCCTTGTGTGTTGTGTCTCCTAGCTCTACATACAAACTACCACGCTTACAATCTCCATGAACCTAAGTGCATCAGTGGCGCTGGGGATGCTATACATGCCGAAAGTGTACATCATCATTTTCCACCCTGAACTCAATGTCCAGAAACGGAAGCGAAGCTTCAAGGCGGTAGTCACAGCAGCCACCATGTCATCGAGGCTGTCACACAAACCCAGTGACAGACCCAACGGTGAGGCAAAGACCGAGCTCTGTGAAAACGTAGACCCAAACAGTAAGTAACTCTCCGTTTCTTTCATCTTCCCACCCTGCATCAGGAAGCTCTAGAAGATGTGGGGTGTGCTTGCCTCTCTGGAGAAATACTGTGATCGTTCTTGTCTTATGGGCTGGGTTGCCTTGGTGAATGCCAGCTTCTGCTCTTTTGAGTTTGACTCATTCCTGCCACCATTTTCTTTTTGTTCCTTGTTGGAAAGAAGCTTTTGGAGGCTCTGCTTCAGAAGTGTGAAGCCTCCCCCTTCCCTTGCTTCTTGTCCTCTGGTACTGAATCCTCCAACTGACAAATGCACCTATCAGGTTGTTCTTTTCTTGCACCCTTCCTGCTAAGGCAACAACTTTTTGTCAGGGAAACTTCCATACTTAATGAACTGTATCGGTGGGAATTAATTAGGATTTTGGAAGCGAAACTTTTTTCCTCTAGCATGTGAATGTTGAAAAAGTTATTTTGTACTAATCAGGTCTTCTAGAAACATATAAAATATTGGAAAAAGTTGTCAAATCCAGGTACACAGGGCCAGACACTACCATGATAACGGCATCATACTGTGGGGAAAAACATATCTACCATACCACTGGAGAAGAGTTTTATTCTATGCAAGACAAACCTTAGGGAAGAAATCAAGGAAAAAAAACATTGGATTTAAGATGCTATTATATGGCATATCTGCAAAACTCTAGGAGCCTTTAGTCATGCATGCAAATGTCCCCAGGTAAAATGGGCATATAGCTATCACTTTGTAAGTAACACAAGACCAGCTCAAAGGTTAAATGCTTAGAATTCCCAATTGCTAACTTTACTAACAATATGGTGGTAAGAGTAAATTTCAGATTTAAAATACTAGTTTTAAGATTTGTTTTCCAGGAATATTTTGGCTAGTTGCATTTAGAATGAGGCAGATTCAAATATTTGTGATACTTCCTGTTGTTTAAGGCAGAAGGGATTTCAGGTTATCCATTAAGTCATTCACGACATACTGTATTTCAGTTAGAAGCTGATCTTGGTGTCAAATGCTTAATGCCAAATAGAAGGAAGTCTCAATTTTAAGTACTCTTGAAGAAATCCTTTTTGCTCTGCAAATAAGAGAGATATCTTTAATAAAAACCAAGAAGCCAACTGGGTTTGATCCTGACAAACACTACACAAAGAACTGTGATTTTGGCCTGTCTCTATTTATGAATAGTTGAGTGAATGTCGTGAAATACTTTGAAAATATGTAGACAAAGTAACAAGGTTAATTAACAACATTGTGGGCTCCAGTTTGACTTTGTGACAGAAGTCCTAGGACAAGTCTAAAGGAACATACTGAGAAGGGAGGAACAGAATGAATGATATAGGCTCTGTTGTGTCTCCAGAGCAAGTGGCCAATTGAGAGGAGGGCAAGTGGATGGTGACTTGCTGTGGCATTCAGTGTGATGTAGGAAGAGGCTTTGGGTTGAGACATACCTGGGTTCAAATGTAAACCACTCCATTTACCAGCCATGTGGCATTAAGAATCACTGAGCTTTTCTAAAACTCAACATAATTATGTATAAAAGAGATAATAACTATGTCATAAGTGTATCACAAAATACTATATTGAGAAAATACTATATCAACTAAATGTCAACGTCTTTCCCTTCCTGAAGAGGCAAAAAGCTTTGCTTAGAAATAAGTTTCAGCATAATTTATTAAGATATAGTAGCTAAAAAGATGCAGTTAAGTGTAGATTAAACACCACAGGGTAGATAAAACTCAATCCTCAAAAGAAGAATTTATGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGACGAGGTGGGCGGATCACCTGAGGTTAGGAGTTGGTGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTTGCGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGCA
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TGAAAAAAGAAAACATATGTGTACACACATACAAATATACATAAGCATATATGCATGTATAATTTATAATTATAAATAATAAAACAAGAAGTCTGAATAATTTCATCAACTGCAAAATTCACTCATAAGCAGAGAAACAGAAACAAAACCTAAGATCCCATAGGTTTGTTGACATCCTTTTCCTTTTTGAACTAAGCCATGGTTTGCAAATCTCTCATAAGTACGGTGACAGTGGTGACAAAAATTGTCTATGTCTATAAAGCCCTGTGACCATGTAAAGCCTTTCTTGAACAGTGTAGGCTGGCAAGGTGGAATGACATTAAAAGTCTAAAGGTATGCTAGTAGGGAAATATGAACTTTAAAAATATGAACTAATTTACACTTTAAAGAGTCATTAATTCAACATTGTTTTGTCTTTCTATGTTACATTCATTATGTATTATAGTCAGCAGCTGGTAGCTCCTTTTAACCGTTTGGAGACATACATATTCAAATTAATGTTGGCTAGAAAACTGTATTATTTCCAGACGAGATGGCAAAGTTGTCTTTGATTTCACTAGGGCCTCTGTTTGAAGAATTAAGATCAGAAATGTCCAGGCAGCCAATATGTCTGATGGAAATTTTTGTATAGCGATAGGCTGTTTAACCAGTGAGTTATAGGTAGGAAAAAGGTGTCCATTAGACAAACACATGAGCCTATCCATTGTATGTTTATCAAGTGCCTTCTTTGCAGACAATAATAATGTCCCAGAAAGACAGATCCTGCCTTCATGGAACTTAAGGCCTAGCAGGAAAATGGGCAGAAAAATGATCAAGATACTGAGTGCATAATTACAACAGAGACAAATGATCTAAAGAAGTCCTTTGAGAGTGTATCAGTAAAGAAGCTGGCCTAGACTTGAGGCTGTGAGTGCGGGCAGCCTGGGATGGGCATGCTAAGAAGAAAAGGAGGAACGTTCCATACGTAGGAAAACAAAAATAAAGAAAAGGGGCATGGAGAAAAGTTCTGTGATTGAATGAGTACAGTTCATTCATGATCTAAAGGACAGCCCAAATGGACGGAACCCTGGGAAGGCAAGACAGGGGATCAGGGGGTCAGGGAGTTGGGAAATAGTGGACAATTAGTCTAAAACAGTAGGCAAGCACAAACCATCCAAACTGCAAATAACACAACTCCAGAATAAGGCGTTGCATCTCATTAGTAATTTGACAATATAGAGTAGACAAGCCAACATCACTAGATCTTGTTCACTTGTCACTTGTGTTTTATAAGACAGAATTAAGCAAGAAGATCTTAGTTTTCAGAGAAAGTCAACTCACTATTCAGCAGATAGGGAAAAGGCGTGCCTTTCTAGAAAACAATATAAAAAGAGACATACATTAAGATAAAGACTTCTCAAAAGGCCCCAGAATCTCAATGTAGGAAGAAATCATGGAGTGTGAACCCTCTTTTACATGTATGAAAGATAAAACCTAACCACACCTTAATCAAGATTACAGATTTCTATGGTCTTCATGTCTTTATATTTAGCTGCCACTTCAATTAGAAGTCCTTCAAATATGATTAAAGGTTTACTCTGAACTTTAATATAAGAGACTTCTGTAGGGCAAGCATGTGCATGGATTGACCCAATAGCATTCAATCAATTAATACATGCATATGCTCTCCAATAACTGTGCAGAGTTATTGTGCTTTCCTTTATTTATCAAAATGCCCTGAAGATTGCTTTATCTCCTAGCCATAGTCGTTCTTGACATCGCTTTAAGTGTTCAGACCCCTACTGCAGTCATTTTATTTGTAATAGTGCCTTGTGTGTTGTGTCTCCTAGCTCTACATACAAACTACCACGCTTACAATCTCCATGAACCTAAGTGCATCAGTGGCGCTGGGGATGCTATACATGCCGAAAGTGTACATCATCATTTTCCACCCTGAACTCAATGTCCAGAAACGGAAGCGAAGCTTCAAGGCGGTAGTCACAGCAGCCACCATGTCATCGAGGCTGTCACACAAACCCAGTGACAGACCCAACGGTGAGGCAAAGACCAAGCTCTGTGAAAACGTAGACCCAAACAGTAAGTAACTCTCCGTTTCTTTCATCTTCCCACCCTGCATCAGGAAGCTCTAGAAGATGTGGGGTGTGCTTGCCTCTCTGGAGAAATACTGTGATCGTTCTTGTCTTATGGGCTGGGTTGCCTTGGTGAATGCCAGCTTCTGCTCTTTTGAGTTTGACTCATTCCTGCCACCATTTTCTTTTTGTTCCTTGTTGGAAAGAAGCTTTTGGAGGCTCTGCTTCAGAAGTGTGAAGCCTCCCCCTTCCCTTGCTTCTTGTCCTCTGGTACTGAATCCTCCAACTGACAAATGCACCTATCAGGTTGTTCTTTTCTTGCACCCTTCCTGCTAAGGCAACAACTTTTTGTCAGGGAAACTTCCATACTTAATGAACTGTATCGGTGGGAATTAATTAGGATTTTGGAAGCGAAACTTTTTTCCTCTAGCATGTGAATGTTGAAAAAGTTATTTTGTACTAATCAGGTCTTCTAGAAACATATAAAATATTGGAAAAAGTTGTCAAATCCAGGTACACAGGGCCAGACACTACCATGATAACGGCATCATACTGTGGGGAAAAACATATCTACCATACCACTGGAGAAGAGTTTTATTCTATGCAAGACAAACCTTAGGGAAGAAATCAAGGAAAAAAAACATTGGATTTAAGATGCTATTATATGGCATATCTGCAAAACTCTAGGAGCCTTTAGTCATGCATGCAAATGTCCCCAGGTAAAATGGGCATATAGCTATCACTTTGTAAGTAACACAAGACCAGCTCAAAGGTTAAATGCTTAGAATTCCCAATTGCTAACTTTACTAACAATATGGTGGTAAGAGTAAATTTCAGATTTAAAATACTAGTTTTAAGATTTGTTTTCCAGGAATATTTTGGCTAGTTGCATTTAGAATGAGGCAGATTCAAATATTTGTGATACTTCCTGTTGTTTAAGGCAGAAGGGATTTCAGGTTATCCATTAAGTCATTCACGACATACTGTATTTCAGTTAGAAGCTGATCTTGGTGTCAAATGCTTAATGCCAAATAGAAGGAAGTCTCAATTTTAAGTACTCTTGAAGAAATCCTTTTTGCTCTGCAAATAAGAGAGATATCTTTAATAAAAACCAAGAAGCCAACTGGGTTTGATCCTGACAAACACTACACAAAGAACTGTGATTTTGGCCTGTCTCTATTTATGAATAGTTGAGTGAATGTCGTGAAATACTTTGAAAATATGTAGACAAAGTAACAAGGTTAATTAACAACATTGTGGGCTCCAGTTTGACTTTGTGACAGAAGTCCTAGGACAAGTCTAAAGGAACATACTGAGAAGGGAGGAACAGAATGAATGATATAGGCTCTGTTGTGTCTCCAGAGCAAGTGGCCAATTGAGAGGAGGGCAAGTGGATGGTGACTTGCTGTGGCATTCAGTGTGATGTAGGAAGAGGCTTTGGGTTGAGACATACCTGGGTTCAAATGTAAACCACTCCATTTACCAGCCATGTGGCATTAAGAATCACTGAGCTTTTCTAAAACTCAACATAATTATGTATAAAAGAGATAATAACTATGTCATAAGTGTATCACAAAATACTATATTGAGAAAATACTATATCAACTAAATGTCAACGTCTTTCCCTTCCTGAAGAGGCAAAAAGCTTTGCTTAGAAATAAGTTTCAGCATAATTTATTAAGATATAGTAGCTAAAAAGATGCAGTTAAGTGTAGATTAAACACCACAGGGTAGATAAAACTCAATCCTCAAAAGAAGAATTTATGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGACGAGGTGGGCGGATCACCTGAGGTTAGGAGTTGGTGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTTGCGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGCA
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Task1_train_5898
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A mutation found in CAV3 (caveolin 3) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Long QT syndrome 9
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TACAGTTCCATCATCGTTTGCCAAGACAGGAGTGACCAATGAGATATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCCAGGTGTAATTATTGATAAAGCCTAAATCACCTCTGGTTTTCCCCCTCCTACCTCAAACTTCACCCAGCTCCAATCCACCCTCCACCTGGCCACCAGGGAGCTTCCTCACACACAAATCTGATACCGACCCTGTCCTGCTTTGAAGCCTTCAATGGCTTTCCAGCACCCCTAGACAAAATCCACATTCTTTAGTATGACATTTGGGATGCTGCACACCCAGGCCTGAGCTGAGCTGTATCTCCTGCCTCAACCCCAGACACCCTGTGCTCCAGCCACTCCACACTTTTCAACATTCCTGTCTATACCACTCCTCAATATCCACAATCCTGTAACTTGAAGTGTTCTAGGTGCTGAGCTCCTGCTTGTCATTCGATACCTATCTGCAAAGCCACCTCCCACAGGAAGTCTTCCCCGGTGTCCTCAGAGTAAGTTACTGACTCCTATGGACTTCTAAGACCAGCTCTTTGTAAAATATCTCTGATCTGTGGCACTTACCGCACAGTATTATAATCACTTATTGTTTTAATTAGTCTCCCCACCTTGACTGGGAGCACTTCAAGGCGGACAGAGCCTTGTTGGTCTGTTTATCCCCAGCTATTAGCAAATCCTGAATGAAGGAGTGAATAGACAGGTAAATGGAAGCACAGACCCTGACCCCTGAGGATTCAGAGTTGCCATCCTTCATGCTGCTGGAGCCCAGGGGAAGGCTGAGTTAGAAGAGGGCACAGAAAAACCGAGCAGGTATCTAAGAGAGGTGCACCCCACTGATGCATGTGGAGTGTCTGGGACCCAAGAAAATCCTGGAAGCTGTCACTAGGGCAGGGTGAAGGGTAGCACGAACATGGACTTCATGTTCCCCCCACCGGGCATATCCCAGTGCAGGCTCCAGACGGCAGACGAGGGGCAGCCCCACAGCAGCTTCCTCTCCCTGTTTCATCCCCAGCCTGGCCCCACACCACAGTCCATCAACTCCTGCTCCAGGTGGAAACCTCAGAAACCCACAAAGCTCGGACCTGCTCCAGGTCACCAAGCAGCAGGGCCAGGCACTGGCAATCCAACGAGAAGCCCCACTACATCGCATTCCAGCTCCTGAAGCCATTCCCTGGGTAGGAGAGCCCTGATTGTTATTATCATCTCTCCATTTTACAGATGGGGACAGAGTGGCCTAGAGAGGTGAAGTGTGCCAAAGGTCACACAGCCAGCCAGAGGCAGAGGAGGGACTAACCCCACTTCCCTCCACGGGCAGTGCACCCCAAAGGAGCCAAAATGCTGACAGCAGTGGGGCAAATTCCAGGGGCCCCGGAGCGACCGCCGAGTTGGCCACAGCCACACGATGCATAGGAAACGCTAGGCCCTCTGCACCCTCTCCTGAGGCCCAGTGCCCTGAGGCAGCCCCCTTTAAGGAGCGATCGGCCTTCCAGAAGAGCTCCAGTCTTAATTTTAGCTTGGAGGCCTGCCACAGGAGGCTTTAGAGAGAGGCAGGCTGAAGTTATGTGGGACAGCTGTCAGCCGGCATGCTGGGTGGGGCCTATTTAGCTGGCAGGGACATAAGTCTGGGGACACTGAATTGGTCTCTCTGCCCCAAGTATTTTCAGCCCCAGCCGGCCACACAGCTCGGATCTCCTCCTGTGGATCCCCCCAGCTCTGCGATGATGGCAGAAGAGCACACAGATCTCGAGGCCCAGATCGTCAAGGATATCCACTGCAAGGAGATTGACCTGGTGAACCGAGACCCCAAGAACATTAACGAGGACATAGTCAAGGTAGGCTCTGCAGGCCTGCCTCGGCGGGCGGAGAGTGTCAGGTTTGCGAGACGTGGGCGCTTGGCAGGGGAGGGTATCTGCTGCAGACACAGTTTCCCTGAAAAGAGACTTGTTGCTCTGTTGTCTCTGTATCACCCCCCCAACCCCACCCCACCCCCAAAAAAAGGCTTCTAAATCACCGAAGGATCTTTAGCAAAATCAAGAGCAAAAAATTAGCCTCATCTCCATGACCTAAGTGCTAATCAGGGCAGGAGGAGCGAGTCACAAAGAAAATCCCTCCTTACTACTGTGACGCTCCTGCCACTCACTCCTGGCTCTCACCCTGGGAGGAACAGGAACGGGCGGCCAAGTTGGGCTCCTTTCTGTGCCAAGGGGCATTTCTGCGGTCTCTCCAGTGGGTGCAGGGTTAATCCCCAGAGGGCAGCTTCCAGCAGGGCCGGCAGCCCCTCGAGGTACACTCACTCCCCCAGAGCACTGCCCAATATCTGTCCCCAAGGCCGAGGGCCATGCCCAGCCCTCCCCTAGCTACCCCCTCACCCCAGGTCTAGTGGCCAGGACAGGGCAGACGGCACCCGGGACCCTCGAAGAGAAAGCTCGGGGTTGTCTAGCCCTCAGGGAGTCTCTCAGCGTCTGAAGTTGGGCCTCTTCCCTCGCCTCCTGGTGACACTAGCGGCCCTGCTGCCTCCAGGCCCACACCTTCAATCCAACTTCCAGCCAGTACCCAGAGGGATCTTTCTTTTTTCTTTTTGAGACAGTCTCTCTCTGTCCCCAAGGCTGGAGTGCAGTCGCACACTCACGCCTCACTGCAGCCTCAACCTCCCAGGCTCAAGTGATTCTCCCTCCTCCACCTCCTGATTAGCTGGGACCACAGGCGAGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCATTATGTTGACCAAGCTGGTATCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCCCAAAGTGCTGGGATTACAGGTGCAAGACTCCACAACTGGCTCAGAGGTACCTTTCTAAAGCAGAATTCCTCCAAGAAGGGTCCCCAGCCACCAGCATCTGAGTCACTGGAGGGGCTGTTAAGAGGCCAGTGTCTGAGGCCTCTCAGATCCTACTGAAAGCATTGGAATCTCAGGCCAGTGCTGTCCAATAGGGATACTGTTACCACAAGGAATTTAAAATTTTCTAGCAGCCACATTTTAAAATGCGAAAGCAAACAGGTGAAATTAATGTTCCTGATATTTCTTACTTAACCCTATATATCTAAAATAGTATTATTTCAACATGTAAGCAATATAAAACAATTATCAATGAGCTATTGTACAGTCTTCAAGTTTGAAATCCAGTGTGCTTCCTATACCCACAGTATATTTCAGTTCAGACCCCACATTTTCATCCGAAATGCTTGTTCTGCATTTAGATTTCATAAAATGTACATGTGAAAATCGATTCGCATGCCTGTACTGTTTCAAACATTCTGCAAAAATTTTTCAATAATGAAATCGGGGTTTACATTTTAATTAAAGTTAAACAAAATCTAGAATTCTTCAGTTTCACTAGCCACATTTCAAGCGCTCAAAGCTCCTGGCCACTGGATCAGACAGGCCTGTATTGCGGTCTTTCAGTGGGGCACCTCCCATGCTGGAGAAGCCTAGCCTCTCCACGTGGCTGTCCAAACCCAACACAATCTGGCCCCAACCTGCTTCTTCTGCCTGGTTGGCTCCCACCTGCCAGCCCACCCACCAGAGTACATTCCTGTGCCATTGCCAGAAGTGCCTGTCCTCTCTTCTCCAGGTGGTGAATGCCTCACTCAGCCTTCAAGGCCCAACTCAAATGCAACCTCCTCCAGAAAGCCTTCCCTGACTCCTCCAGGCAATTAGTTGCTCCCACTTCTGTCCCCCTGCTTCACTCAGGGCATTCCTCCACCACAGCTCTTCTTATACTGGATATTATA
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TACAGTTCCATCATCGTTTGCCAAGACAGGAGTGACCAATGAGATATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCCAGGTGTAATTATTGATAAAGCCTAAATCACCTCTGGTTTTCCCCCTCCTACCTCAAACTTCACCCAGCTCCAATCCACCCTCCACCTGGCCACCAGGGAGCTTCCTCACACACAAATCTGATACCGACCCTGTCCTGCTTTGAAGCCTTCAATGGCTTTCCAGCACCCCTAGACAAAATCCACATTCTTTAGTATGACATTTGGGATGCTGCACACCCAGGCCTGAGCTGAGCTGTATCTCCTGCCTCAACCCCAGACACCCTGTGCTCCAGCCACTCCACACTTTTCAACATTCCTGTCTATACCACTCCTCAATATCCACAATCCTGTAACTTGAAGTGTTCTAGGTGCTGAGCTCCTGCTTGTCATTCGATACCTATCTGCAAAGCCACCTCCCACAGGAAGTCTTCCCCGGTGTCCTCAGAGTAAGTTACTGACTCCTATGGACTTCTAAGACCAGCTCTTTGTAAAATATCTCTGATCTGTGGCACTTACCGCACAGTATTATAATCACTTATTGTTTTAATTAGTCTCCCCACCTTGACTGGGAGCACTTCAAGGCGGACAGAGCCTTGTTGGTCTGTTTATCCCCAGCTATTAGCAAATCCTGAATGAAGGAGTGAATAGACAGGTAAATGGAAGCACAGACCCTGACCCCTGAGGATTCAGAGTTGCCATCCTTCATGCTGCTGGAGCCCAGGGGAAGGCTGAGTTAGAAGAGGGCACAGAAAAACCGAGCAGGTATCTAAGAGAGGTGCACCCCACTGATGCATGTGGAGTGTCTGGGACCCAAGAAAATCCTGGAAGCTGTCACTAGGGCAGGGTGAAGGGTAGCACGAACATGGACTTCATGTTCCCCCCACCGGGCATATCCCAGTGCAGGCTCCAGACGGCAGACGAGGGGCAGCCCCACAGCAGCTTCCTCTCCCTGTTTCATCCCCAGCCTGGCCCCACACCACAGTCCATCAACTCCTGCTCCAGGTGGAAACCTCAGAAACCCACAAAGCTCGGACCTGCTCCAGGTCACCAAGCAGCAGGGCCAGGCACTGGCAATCCAACGAGAAGCCCCACTACATCGCATTCCAGCTCCTGAAGCCATTCCCTGGGTAGGAGAGCCCTGATTGTTATTATCATCTCTCCATTTTACAGATGGGGACAGAGTGGCCTAGAGAGGTGAAGTGTGCCAAAGGTCACACAGCCAGCCAGAGGCAGAGGAGGGACTAACCCCACTTCCCTCCACGGGCAGTGCACCCCAAAGGAGCCAAAATGCTGACAGCAGTGGGGCAAATTCCAGGGGCCCCGGAGCGACCGCCGAGTTGGCCACAGCCACACGATGCATAGGAAACGCTAGGCCCTCTGCACCCTCTCCTGAGGCCCAGTGCCCTGAGGCAGCCCCCTTTAAGGAGCGATCGGCCTTCCAGAAGAGCTCCAGTCTTAATTTTAGCTTGGAGGCCTGCCACAGGAGGCTTTAGAGAGAGGCAGGCTGAAGTTATGTGGGACAGCTGTCAGCCGGCATGCTGGGTGGGGCCTATTTAGCTGGCAGGGACATAAGTCTGGGGACACTGAATTGGTCTCTCTGCCCCAAGTATTTTCAGCCCCAGCCGGCCACACAGCTCGGATCTCCTCCTGTGGATCCCCCCAGCTCTGCGATGATGGCAGAAGAGCACACAGATCTCGAGGCCCAGATCCTCAAGGATATCCACTGCAAGGAGATTGACCTGGTGAACCGAGACCCCAAGAACATTAACGAGGACATAGTCAAGGTAGGCTCTGCAGGCCTGCCTCGGCGGGCGGAGAGTGTCAGGTTTGCGAGACGTGGGCGCTTGGCAGGGGAGGGTATCTGCTGCAGACACAGTTTCCCTGAAAAGAGACTTGTTGCTCTGTTGTCTCTGTATCACCCCCCCAACCCCACCCCACCCCCAAAAAAAGGCTTCTAAATCACCGAAGGATCTTTAGCAAAATCAAGAGCAAAAAATTAGCCTCATCTCCATGACCTAAGTGCTAATCAGGGCAGGAGGAGCGAGTCACAAAGAAAATCCCTCCTTACTACTGTGACGCTCCTGCCACTCACTCCTGGCTCTCACCCTGGGAGGAACAGGAACGGGCGGCCAAGTTGGGCTCCTTTCTGTGCCAAGGGGCATTTCTGCGGTCTCTCCAGTGGGTGCAGGGTTAATCCCCAGAGGGCAGCTTCCAGCAGGGCCGGCAGCCCCTCGAGGTACACTCACTCCCCCAGAGCACTGCCCAATATCTGTCCCCAAGGCCGAGGGCCATGCCCAGCCCTCCCCTAGCTACCCCCTCACCCCAGGTCTAGTGGCCAGGACAGGGCAGACGGCACCCGGGACCCTCGAAGAGAAAGCTCGGGGTTGTCTAGCCCTCAGGGAGTCTCTCAGCGTCTGAAGTTGGGCCTCTTCCCTCGCCTCCTGGTGACACTAGCGGCCCTGCTGCCTCCAGGCCCACACCTTCAATCCAACTTCCAGCCAGTACCCAGAGGGATCTTTCTTTTTTCTTTTTGAGACAGTCTCTCTCTGTCCCCAAGGCTGGAGTGCAGTCGCACACTCACGCCTCACTGCAGCCTCAACCTCCCAGGCTCAAGTGATTCTCCCTCCTCCACCTCCTGATTAGCTGGGACCACAGGCGAGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCATTATGTTGACCAAGCTGGTATCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCCCAAAGTGCTGGGATTACAGGTGCAAGACTCCACAACTGGCTCAGAGGTACCTTTCTAAAGCAGAATTCCTCCAAGAAGGGTCCCCAGCCACCAGCATCTGAGTCACTGGAGGGGCTGTTAAGAGGCCAGTGTCTGAGGCCTCTCAGATCCTACTGAAAGCATTGGAATCTCAGGCCAGTGCTGTCCAATAGGGATACTGTTACCACAAGGAATTTAAAATTTTCTAGCAGCCACATTTTAAAATGCGAAAGCAAACAGGTGAAATTAATGTTCCTGATATTTCTTACTTAACCCTATATATCTAAAATAGTATTATTTCAACATGTAAGCAATATAAAACAATTATCAATGAGCTATTGTACAGTCTTCAAGTTTGAAATCCAGTGTGCTTCCTATACCCACAGTATATTTCAGTTCAGACCCCACATTTTCATCCGAAATGCTTGTTCTGCATTTAGATTTCATAAAATGTACATGTGAAAATCGATTCGCATGCCTGTACTGTTTCAAACATTCTGCAAAAATTTTTCAATAATGAAATCGGGGTTTACATTTTAATTAAAGTTAAACAAAATCTAGAATTCTTCAGTTTCACTAGCCACATTTCAAGCGCTCAAAGCTCCTGGCCACTGGATCAGACAGGCCTGTATTGCGGTCTTTCAGTGGGGCACCTCCCATGCTGGAGAAGCCTAGCCTCTCCACGTGGCTGTCCAAACCCAACACAATCTGGCCCCAACCTGCTTCTTCTGCCTGGTTGGCTCCCACCTGCCAGCCCACCCACCAGAGTACATTCCTGTGCCATTGCCAGAAGTGCCTGTCCTCTCTTCTCCAGGTGGTGAATGCCTCACTCAGCCTTCAAGGCCCAACTCAAATGCAACCTCCTCCAGAAAGCCTTCCCTGACTCCTCCAGGCAATTAGTTGCTCCCACTTCTGTCCCCCTGCTTCACTCAGGGCATTCCTCCACCACAGCTCTTCTTATACTGGATATTATA
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Task1_train_5899
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Here is a variant affecting CAV3 (caveolin 3) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Long QT syndrome
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TGAGATATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCCAGGTGTAATTATTGATAAAGCCTAAATCACCTCTGGTTTTCCCCCTCCTACCTCAAACTTCACCCAGCTCCAATCCACCCTCCACCTGGCCACCAGGGAGCTTCCTCACACACAAATCTGATACCGACCCTGTCCTGCTTTGAAGCCTTCAATGGCTTTCCAGCACCCCTAGACAAAATCCACATTCTTTAGTATGACATTTGGGATGCTGCACACCCAGGCCTGAGCTGAGCTGTATCTCCTGCCTCAACCCCAGACACCCTGTGCTCCAGCCACTCCACACTTTTCAACATTCCTGTCTATACCACTCCTCAATATCCACAATCCTGTAACTTGAAGTGTTCTAGGTGCTGAGCTCCTGCTTGTCATTCGATACCTATCTGCAAAGCCACCTCCCACAGGAAGTCTTCCCCGGTGTCCTCAGAGTAAGTTACTGACTCCTATGGACTTCTAAGACCAGCTCTTTGTAAAATATCTCTGATCTGTGGCACTTACCGCACAGTATTATAATCACTTATTGTTTTAATTAGTCTCCCCACCTTGACTGGGAGCACTTCAAGGCGGACAGAGCCTTGTTGGTCTGTTTATCCCCAGCTATTAGCAAATCCTGAATGAAGGAGTGAATAGACAGGTAAATGGAAGCACAGACCCTGACCCCTGAGGATTCAGAGTTGCCATCCTTCATGCTGCTGGAGCCCAGGGGAAGGCTGAGTTAGAAGAGGGCACAGAAAAACCGAGCAGGTATCTAAGAGAGGTGCACCCCACTGATGCATGTGGAGTGTCTGGGACCCAAGAAAATCCTGGAAGCTGTCACTAGGGCAGGGTGAAGGGTAGCACGAACATGGACTTCATGTTCCCCCCACCGGGCATATCCCAGTGCAGGCTCCAGACGGCAGACGAGGGGCAGCCCCACAGCAGCTTCCTCTCCCTGTTTCATCCCCAGCCTGGCCCCACACCACAGTCCATCAACTCCTGCTCCAGGTGGAAACCTCAGAAACCCACAAAGCTCGGACCTGCTCCAGGTCACCAAGCAGCAGGGCCAGGCACTGGCAATCCAACGAGAAGCCCCACTACATCGCATTCCAGCTCCTGAAGCCATTCCCTGGGTAGGAGAGCCCTGATTGTTATTATCATCTCTCCATTTTACAGATGGGGACAGAGTGGCCTAGAGAGGTGAAGTGTGCCAAAGGTCACACAGCCAGCCAGAGGCAGAGGAGGGACTAACCCCACTTCCCTCCACGGGCAGTGCACCCCAAAGGAGCCAAAATGCTGACAGCAGTGGGGCAAATTCCAGGGGCCCCGGAGCGACCGCCGAGTTGGCCACAGCCACACGATGCATAGGAAACGCTAGGCCCTCTGCACCCTCTCCTGAGGCCCAGTGCCCTGAGGCAGCCCCCTTTAAGGAGCGATCGGCCTTCCAGAAGAGCTCCAGTCTTAATTTTAGCTTGGAGGCCTGCCACAGGAGGCTTTAGAGAGAGGCAGGCTGAAGTTATGTGGGACAGCTGTCAGCCGGCATGCTGGGTGGGGCCTATTTAGCTGGCAGGGACATAAGTCTGGGGACACTGAATTGGTCTCTCTGCCCCAAGTATTTTCAGCCCCAGCCGGCCACACAGCTCGGATCTCCTCCTGTGGATCCCCCCAGCTCTGCGATGATGGCAGAAGAGCACACAGATCTCGAGGCCCAGATCGTCAAGGATATCCACTGCAAGGAGATTGACCTGGTGAACCGAGACCCCAAGAACATTAACGAGGACATAGTCAAGGTAGGCTCTGCAGGCCTGCCTCGGCGGGCGGAGAGTGTCAGGTTTGCGAGACGTGGGCGCTTGGCAGGGGAGGGTATCTGCTGCAGACACAGTTTCCCTGAAAAGAGACTTGTTGCTCTGTTGTCTCTGTATCACCCCCCCAACCCCACCCCACCCCCAAAAAAAGGCTTCTAAATCACCGAAGGATCTTTAGCAAAATCAAGAGCAAAAAATTAGCCTCATCTCCATGACCTAAGTGCTAATCAGGGCAGGAGGAGCGAGTCACAAAGAAAATCCCTCCTTACTACTGTGACGCTCCTGCCACTCACTCCTGGCTCTCACCCTGGGAGGAACAGGAACGGGCGGCCAAGTTGGGCTCCTTTCTGTGCCAAGGGGCATTTCTGCGGTCTCTCCAGTGGGTGCAGGGTTAATCCCCAGAGGGCAGCTTCCAGCAGGGCCGGCAGCCCCTCGAGGTACACTCACTCCCCCAGAGCACTGCCCAATATCTGTCCCCAAGGCCGAGGGCCATGCCCAGCCCTCCCCTAGCTACCCCCTCACCCCAGGTCTAGTGGCCAGGACAGGGCAGACGGCACCCGGGACCCTCGAAGAGAAAGCTCGGGGTTGTCTAGCCCTCAGGGAGTCTCTCAGCGTCTGAAGTTGGGCCTCTTCCCTCGCCTCCTGGTGACACTAGCGGCCCTGCTGCCTCCAGGCCCACACCTTCAATCCAACTTCCAGCCAGTACCCAGAGGGATCTTTCTTTTTTCTTTTTGAGACAGTCTCTCTCTGTCCCCAAGGCTGGAGTGCAGTCGCACACTCACGCCTCACTGCAGCCTCAACCTCCCAGGCTCAAGTGATTCTCCCTCCTCCACCTCCTGATTAGCTGGGACCACAGGCGAGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCATTATGTTGACCAAGCTGGTATCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCCCAAAGTGCTGGGATTACAGGTGCAAGACTCCACAACTGGCTCAGAGGTACCTTTCTAAAGCAGAATTCCTCCAAGAAGGGTCCCCAGCCACCAGCATCTGAGTCACTGGAGGGGCTGTTAAGAGGCCAGTGTCTGAGGCCTCTCAGATCCTACTGAAAGCATTGGAATCTCAGGCCAGTGCTGTCCAATAGGGATACTGTTACCACAAGGAATTTAAAATTTTCTAGCAGCCACATTTTAAAATGCGAAAGCAAACAGGTGAAATTAATGTTCCTGATATTTCTTACTTAACCCTATATATCTAAAATAGTATTATTTCAACATGTAAGCAATATAAAACAATTATCAATGAGCTATTGTACAGTCTTCAAGTTTGAAATCCAGTGTGCTTCCTATACCCACAGTATATTTCAGTTCAGACCCCACATTTTCATCCGAAATGCTTGTTCTGCATTTAGATTTCATAAAATGTACATGTGAAAATCGATTCGCATGCCTGTACTGTTTCAAACATTCTGCAAAAATTTTTCAATAATGAAATCGGGGTTTACATTTTAATTAAAGTTAAACAAAATCTAGAATTCTTCAGTTTCACTAGCCACATTTCAAGCGCTCAAAGCTCCTGGCCACTGGATCAGACAGGCCTGTATTGCGGTCTTTCAGTGGGGCACCTCCCATGCTGGAGAAGCCTAGCCTCTCCACGTGGCTGTCCAAACCCAACACAATCTGGCCCCAACCTGCTTCTTCTGCCTGGTTGGCTCCCACCTGCCAGCCCACCCACCAGAGTACATTCCTGTGCCATTGCCAGAAGTGCCTGTCCTCTCTTCTCCAGGTGGTGAATGCCTCACTCAGCCTTCAAGGCCCAACTCAAATGCAACCTCCTCCAGAAAGCCTTCCCTGACTCCTCCAGGCAATTAGTTGCTCCCACTTCTGTCCCCCTGCTTCACTCAGGGCATTCCTCCACCACAGCTCTTCTTATACTGGATATTATATTTCTATACATCGTTAGTGATGGAGATAGAGTATACAGT
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TGAGATATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCCAGGTGTAATTATTGATAAAGCCTAAATCACCTCTGGTTTTCCCCCTCCTACCTCAAACTTCACCCAGCTCCAATCCACCCTCCACCTGGCCACCAGGGAGCTTCCTCACACACAAATCTGATACCGACCCTGTCCTGCTTTGAAGCCTTCAATGGCTTTCCAGCACCCCTAGACAAAATCCACATTCTTTAGTATGACATTTGGGATGCTGCACACCCAGGCCTGAGCTGAGCTGTATCTCCTGCCTCAACCCCAGACACCCTGTGCTCCAGCCACTCCACACTTTTCAACATTCCTGTCTATACCACTCCTCAATATCCACAATCCTGTAACTTGAAGTGTTCTAGGTGCTGAGCTCCTGCTTGTCATTCGATACCTATCTGCAAAGCCACCTCCCACAGGAAGTCTTCCCCGGTGTCCTCAGAGTAAGTTACTGACTCCTATGGACTTCTAAGACCAGCTCTTTGTAAAATATCTCTGATCTGTGGCACTTACCGCACAGTATTATAATCACTTATTGTTTTAATTAGTCTCCCCACCTTGACTGGGAGCACTTCAAGGCGGACAGAGCCTTGTTGGTCTGTTTATCCCCAGCTATTAGCAAATCCTGAATGAAGGAGTGAATAGACAGGTAAATGGAAGCACAGACCCTGACCCCTGAGGATTCAGAGTTGCCATCCTTCATGCTGCTGGAGCCCAGGGGAAGGCTGAGTTAGAAGAGGGCACAGAAAAACCGAGCAGGTATCTAAGAGAGGTGCACCCCACTGATGCATGTGGAGTGTCTGGGACCCAAGAAAATCCTGGAAGCTGTCACTAGGGCAGGGTGAAGGGTAGCACGAACATGGACTTCATGTTCCCCCCACCGGGCATATCCCAGTGCAGGCTCCAGACGGCAGACGAGGGGCAGCCCCACAGCAGCTTCCTCTCCCTGTTTCATCCCCAGCCTGGCCCCACACCACAGTCCATCAACTCCTGCTCCAGGTGGAAACCTCAGAAACCCACAAAGCTCGGACCTGCTCCAGGTCACCAAGCAGCAGGGCCAGGCACTGGCAATCCAACGAGAAGCCCCACTACATCGCATTCCAGCTCCTGAAGCCATTCCCTGGGTAGGAGAGCCCTGATTGTTATTATCATCTCTCCATTTTACAGATGGGGACAGAGTGGCCTAGAGAGGTGAAGTGTGCCAAAGGTCACACAGCCAGCCAGAGGCAGAGGAGGGACTAACCCCACTTCCCTCCACGGGCAGTGCACCCCAAAGGAGCCAAAATGCTGACAGCAGTGGGGCAAATTCCAGGGGCCCCGGAGCGACCGCCGAGTTGGCCACAGCCACACGATGCATAGGAAACGCTAGGCCCTCTGCACCCTCTCCTGAGGCCCAGTGCCCTGAGGCAGCCCCCTTTAAGGAGCGATCGGCCTTCCAGAAGAGCTCCAGTCTTAATTTTAGCTTGGAGGCCTGCCACAGGAGGCTTTAGAGAGAGGCAGGCTGAAGTTATGTGGGACAGCTGTCAGCCGGCATGCTGGGTGGGGCCTATTTAGCTGGCAGGGACATAAGTCTGGGGACACTGAATTGGTCTCTCTGCCCCAAGTATTTTCAGCCCCAGCCGGCCACACAGCTCGGATCTCCTCCTGTGGATCCCCCCAGCTCTGCGATGATGGCAGAAGAGCACACAGATCTCGAGGCCCAGATCGTCAAGGATATCCACTGCAAGGAGATTGACCTGGTGAACGGAGACCCCAAGAACATTAACGAGGACATAGTCAAGGTAGGCTCTGCAGGCCTGCCTCGGCGGGCGGAGAGTGTCAGGTTTGCGAGACGTGGGCGCTTGGCAGGGGAGGGTATCTGCTGCAGACACAGTTTCCCTGAAAAGAGACTTGTTGCTCTGTTGTCTCTGTATCACCCCCCCAACCCCACCCCACCCCCAAAAAAAGGCTTCTAAATCACCGAAGGATCTTTAGCAAAATCAAGAGCAAAAAATTAGCCTCATCTCCATGACCTAAGTGCTAATCAGGGCAGGAGGAGCGAGTCACAAAGAAAATCCCTCCTTACTACTGTGACGCTCCTGCCACTCACTCCTGGCTCTCACCCTGGGAGGAACAGGAACGGGCGGCCAAGTTGGGCTCCTTTCTGTGCCAAGGGGCATTTCTGCGGTCTCTCCAGTGGGTGCAGGGTTAATCCCCAGAGGGCAGCTTCCAGCAGGGCCGGCAGCCCCTCGAGGTACACTCACTCCCCCAGAGCACTGCCCAATATCTGTCCCCAAGGCCGAGGGCCATGCCCAGCCCTCCCCTAGCTACCCCCTCACCCCAGGTCTAGTGGCCAGGACAGGGCAGACGGCACCCGGGACCCTCGAAGAGAAAGCTCGGGGTTGTCTAGCCCTCAGGGAGTCTCTCAGCGTCTGAAGTTGGGCCTCTTCCCTCGCCTCCTGGTGACACTAGCGGCCCTGCTGCCTCCAGGCCCACACCTTCAATCCAACTTCCAGCCAGTACCCAGAGGGATCTTTCTTTTTTCTTTTTGAGACAGTCTCTCTCTGTCCCCAAGGCTGGAGTGCAGTCGCACACTCACGCCTCACTGCAGCCTCAACCTCCCAGGCTCAAGTGATTCTCCCTCCTCCACCTCCTGATTAGCTGGGACCACAGGCGAGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCATTATGTTGACCAAGCTGGTATCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCCCAAAGTGCTGGGATTACAGGTGCAAGACTCCACAACTGGCTCAGAGGTACCTTTCTAAAGCAGAATTCCTCCAAGAAGGGTCCCCAGCCACCAGCATCTGAGTCACTGGAGGGGCTGTTAAGAGGCCAGTGTCTGAGGCCTCTCAGATCCTACTGAAAGCATTGGAATCTCAGGCCAGTGCTGTCCAATAGGGATACTGTTACCACAAGGAATTTAAAATTTTCTAGCAGCCACATTTTAAAATGCGAAAGCAAACAGGTGAAATTAATGTTCCTGATATTTCTTACTTAACCCTATATATCTAAAATAGTATTATTTCAACATGTAAGCAATATAAAACAATTATCAATGAGCTATTGTACAGTCTTCAAGTTTGAAATCCAGTGTGCTTCCTATACCCACAGTATATTTCAGTTCAGACCCCACATTTTCATCCGAAATGCTTGTTCTGCATTTAGATTTCATAAAATGTACATGTGAAAATCGATTCGCATGCCTGTACTGTTTCAAACATTCTGCAAAAATTTTTCAATAATGAAATCGGGGTTTACATTTTAATTAAAGTTAAACAAAATCTAGAATTCTTCAGTTTCACTAGCCACATTTCAAGCGCTCAAAGCTCCTGGCCACTGGATCAGACAGGCCTGTATTGCGGTCTTTCAGTGGGGCACCTCCCATGCTGGAGAAGCCTAGCCTCTCCACGTGGCTGTCCAAACCCAACACAATCTGGCCCCAACCTGCTTCTTCTGCCTGGTTGGCTCCCACCTGCCAGCCCACCCACCAGAGTACATTCCTGTGCCATTGCCAGAAGTGCCTGTCCTCTCTTCTCCAGGTGGTGAATGCCTCACTCAGCCTTCAAGGCCCAACTCAAATGCAACCTCCTCCAGAAAGCCTTCCCTGACTCCTCCAGGCAATTAGTTGCTCCCACTTCTGTCCCCCTGCTTCACTCAGGGCATTCCTCCACCACAGCTCTTCTTATACTGGATATTATATTTCTATACATCGTTAGTGATGGAGATAGAGTATACAGT
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Subsets and Splits
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