Datasets:
wanglab
/
variant_effect_coding

Dataset card Data Studio Files
xet
 Community
ID
stringlengths
13
17
question
stringlengths
88
1.13k
answer
stringlengths
6
156
reference_sequence
stringlengths
4.1k
4.1k
variant_sequence
stringlengths
4.1k
4.1k
Task1_train_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
ATCATCAAACAAGCCAAATGGCTACACACACTTTCCCAAAGCAACCAAGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCGGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGC
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
ATCAAACAAGCCAAATGGCTACACACACTTTCCCAAAGCAACCAAGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGA
ATCAAACAAGCCAAATGGCTACACACACTTTCCCAAAGCAACCAAGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCCGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGA
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?
Pathogenic; Primary hyperoxaluria, type I
AGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATAC
AGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCAGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATAC
Task1_train_5805
A sequence alteration has been identified in AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2. Is it disease-inducing or harmless?
Pathogenic; Primary hyperoxaluria
AGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATAC
AGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCAGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATAC
Task1_train_5806
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.
Pathogenic; Primary hyperoxaluria, type I
AGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATAC
AGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCCGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATAC
Task1_train_5807
This is a variant in AGXT (alanine--glyoxylate aminotransferase), located on Chromosome 2. Is this mutation a likely cause of disease or not?
Pathogenic; not provided
GACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACC
GACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGAGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACC
Task1_train_5808
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
TGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCA
TGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGAGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCA
Task1_train_5809
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?
Pathogenic; Primary hyperoxaluria, type I
TACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAA
TACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCAGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAA
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.
Pathogenic; Primary hyperoxaluria, type I
AACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCA
AACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACAAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCA
Task1_train_5811
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?
Pathogenic; Primary hyperoxaluria, type I
ATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGA
ATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAACGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGA
Task1_train_5812
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.
Pathogenic; Primary hyperoxaluria
ATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGA
ATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAACGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGA
Task1_train_5813
Consider a variant on Chromosome 2 in gene AGXT (alanine--glyoxylate aminotransferase). Determine its clinical classification and disease relevance.
Pathogenic; Primary hyperoxaluria, type I
CCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGC
CCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGATCCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGC
Task1_train_5814
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?
Pathogenic; Primary hyperoxaluria, type I
TGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGT
TGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGCGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGT
Task1_train_5815
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?
Pathogenic; Primary hyperoxaluria
GCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTC
GCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACGCTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTC
Task1_train_5816
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
TGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCC
TGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGACCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCC
Task1_train_5817
This mutation occurs in AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2. Does this change lead to a known medical condition, or is it benign?
Pathogenic; not provided
ACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGT
ACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGAAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGT
Task1_train_5818
A variant affecting Chromosome 2, within the gene AGXT (alanine--glyoxylate aminotransferase), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Primary hyperoxaluria, type I
AAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTG
AAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGTGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTG
Task1_train_5819
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?
Pathogenic; Primary hyperoxaluria, type I
GAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCT
GAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGTGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCT
Task1_train_5820
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.
Pathogenic; Primary hyperoxaluria, type I
CAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCG
CAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCCCCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCG
Task1_train_5821
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?
Pathogenic; Primary hyperoxaluria, type I
CCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGC
CCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGATGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGC
Task1_train_5822
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?
Pathogenic; Primary hyperoxaluria, type I
TGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCC
TGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCCGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCC
Task1_train_5823
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.
Pathogenic; Primary hyperoxaluria, type I
GCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCG
GCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGATCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCG
Task1_train_5824
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
GCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCG
GCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGATCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCG
Task1_train_5825
The gene AGXT (alanine--glyoxylate aminotransferase), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Primary hyperoxaluria, type I
GCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCC
GCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCGTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCC
Task1_train_5826
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.
Pathogenic; Primary hyperoxaluria, type I
GGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCT
GGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACAGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCT
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
GGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACAGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCT
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
GGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACAGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCT
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
GGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACCGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCT
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.
Pathogenic; Primary hyperoxaluria, type I
CATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAG
CATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCAGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAG
Task1_train_5831
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
CATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAG
CATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCAGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAG
Task1_train_5832
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.
Pathogenic; Primary hyperoxaluria, type I
CATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAG
CATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCCGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAG
Task1_train_5833
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
GCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTC
GCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCCTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTC
Task1_train_5834
Consider a variant on Chromosome 2 in gene AGXT (alanine--glyoxylate aminotransferase). Determine its clinical classification and disease relevance.
Pathogenic; Primary hyperoxaluria, type I
GATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACC
GATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTTCTGTCTGGCAGGGAAACTGAGTCAGGAGCCTGGTCCTGTAGGCAGGGCCAGAGAGGCTGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTACCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACC
Task1_train_5835
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; Primary hyperoxaluria, type I
AGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTG
AGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACCTGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTG
Task1_train_5836
Consider a variant on Chromosome 2 in gene AGXT (alanine--glyoxylate aminotransferase). Determine its clinical classification and disease relevance.
Pathogenic; Primary hyperoxaluria, type I
GGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTT
GGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTGTTCTGGCCCCTGCCCCTCTGAGCTCCACCCACAGCCGTCCCTGCTTCCTCAGGGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACCGGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTGGCCCCAGGGCGGTGGACTGGAGCACAGCTCAGAGCCAGGCTATGGGGAGGGGTGGGCACTGGTCCCTCTGGTCCTTCTGCCCCTGGTCCCCACCCCAGCCTCTGTCACATGGTATGGGGTGCAGGCACCTCCCAGGTCCTCTTTGCTCTGGGCTGAGTCTAAAGACAACCCCAGGTCCCAGGGCAGGCTCAGGTGCTCCCTGGCCGAGCGCCCCCATAGTGCCCACTGACCTCTGTCCCCAGGGCTGAAGAGGGCTTGGTGCAGACTTCCATATCTTGCCAGGGCCTGTCCCCACCTCACCCCGAGATTGCCAGGACACTAAAGCTGCCTGATGCCCTCCACTTCCCTCCTCCAGCCTCCCTCATCCCCGCATGGGGGTGCACAGGGCAAGGCCTTGAATGGAGTCAGATGGGATTCCTGAGAAATGCGGACAGAGCCCCTTGGGACCCAGCAGTCCCGTCTGCAGGTCTGAGCACAGGACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAAGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTT
Task1_train_5837
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.
Pathogenic; Primary hyperoxaluria, type I
GACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAG
GACAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGAAATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAG
Task1_train_5838
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?
Pathogenic; Primary hyperoxaluria, type I
CAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGAC
CAGAGGAGAGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACAACCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGAC
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?
Pathogenic; Primary hyperoxaluria, type I
AGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCAC
AGAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACCCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCAC
Task1_train_5840
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?
Pathogenic; Primary hyperoxaluria, type I
GAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACT
GAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTTGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACT
Task1_train_5841
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.
Pathogenic; Primary hyperoxaluria
GAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACT
GAAACTCCACGGCCAGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTTGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACT
Task1_train_5842
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.
Pathogenic; Primary hyperoxaluria, type I
AGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGA
AGGGAGGGTCCTTCTGACAGGGCCCCCAGCCCAGACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGCCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGA
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
GACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGG
GACAGCTTGCTGCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGCGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTTGTGGCGCTGCTGCTTGGGCTGTTCTGGGACTCTGTCCCCTCTGGCCTAGATTCTGGCCAGTGGCTGGGCCGAGCAGCTGTTGGCAGAGGTAGGCCCAGCCTGGTGCCACCCTGGTCCCTGGGGTCCACACAGGCCCTCAGGCACCCGCTGTCCCTGGGAACCACAGACTGCCCGGCTGACCCTCTTCAGCACCACTGCCGGGCCCTGCAGCTGGGTCTCACCAGGGCCGTGATGCTCCCTCACTCCCCCAGCTCCCTCTGCTCCAATGTTCAGGGCTGAGAAAGGAAGAGCCACAGGTCCTGATGGATCCTGACAGGCAGGAGAAGGCAACTGGCCAACTCCTGGGGTGGAGGTGGGAGGTGCCCTGCCTTCCTTGCCAGCCTGAGGCTCAGAAACCCCATCCAGCCTGGGGCCAGGCCCTCCAGTGGCCCCCTGCCTCACCTGCTGCCCTCCATTCTGTCCCCCACCTCTCCAGGTACAAGTGCCTGCTCCTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAGGTAAGGGTGGGCTCTGAGAGCCCTACCCAGCCCAAGCAGCCTTGGGGCTCCGCGTGCAGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCCCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGG
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
AGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCC
AGGAAGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGCACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCC
Task1_train_5845
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
AGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGAT
AGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACACCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGAT
Task1_train_5846
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.
Pathogenic; Primary hyperoxaluria
AGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGAT
AGCCCTGCTGGAAGCGTGCGTCCAGCAGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACACCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGAT
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
AGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACA
AGCCGATGCTGCGGATTCGGCCCCATCTCCACCAGGCCCAGGGAAACACTCACTCCTTACTGCGGCAAGAGCGGCTCCATGAACTACCCAGCACCCCAGTGTTTCCACTGAGCTTTCAGATCCAGGCGTGGGGACTGGCAGGAGGGACAGCTTCTGGTGGGGGACATTTGAGATGCCCCAGAGCTGTAGCAGAAGCAGTGGGAAGAGGAAGGGCCAGGGCTCCAGTCAATCAGGCGTTGGGCACCCCTCTGCCCAACCCCCCAGAGGCTCAGTTTCACATCTGCCCTGCGCCCTGCCAGGCTGCCCATAGCAGTGAGCACCACTGTCAGGGTCACCTCGCAGGGAACCTCAACCAGGCCGGCCGAGGGGCCAAGGAGCCTCCTGTGCCCATCCGCTTACGGGAGAGAGCCTGCACATTGCATCCACTGCGGTGCCTGCCCACCCACTCCATGGGAGCCTGTCTGTTTCTGCAGAGCCCCTCCTGATTTGGGAGTTCTCAGGCAGGAAGGGAGGGATTTCTGGGCTGATCCTCAAACTACTACTGAAAGCAGGGACCTGGGGAGGGCCCCAGGGACACGGTGCCTGGGGTGGCAGGGCTGTCCCTGGGGACCAGCACAGCAGAGGGAGAAGCTGCGCTAAAACGCTCAGGCCTGAGGTCATGGCTGCCACGCAGCAGTGCCCAGATTTGAACCCAGGACTCCCTTCCACATCTCCCCTGCTATCGTGTACGGATTCGTGGTAGGGTCGTAGCCTACCAGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCCGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACA
Task1_train_5848
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
AGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACAGCCCTTCCCCTCCTTGCCCAGTCCCCTCCCCCTGCAAGGCACTCTCCACTCTTCTCCCCCAGGGGCCACAGGCAGACCTCCCCTCTGTCTCTCTGAACCCTCCTCTGTCTCTCCCAGACCCAGATGTTTCCTTCTGCCCTGGGGTAGTCCCAGGCCCTGCCCCAGGCAAAGTCAAACTGGGGGCTCCAGGGGCTCCCCTGCACCAAGGCCTGCAGAGTCAGGTTCTTCCTCCCGCACCACAGAGGGCGGGGCTTCCTGCCCACCCCACCCATGTCACTGCCCACCAGCGCCATCTCCCACACAGGGCCTGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCTGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGTAAGGAGGCCCCTGGCATTGGGCAGCCCTGCACCCATGGGGAAGGATGAGGGGCTCTTGCCCAGCCCCCTCAAGAGGGACACTGGCTCCTGAGAAGGAGGGGGCGGCTGCCCGGTGGTGTGGCCTCGGTGCCAGGGATTAGTCTCGGCAGGAGCCACGAAGTCACAGCTCCCGGCCTCTGATGCGGGATCTCAGGACGGCCTGTGATCTCCCAGTGGGAAGGTGCCCATCCACCGCCTCCTAAGGGGTGGGGTCCCTGCTCTCTCCCGGCCCTTTCTCCCCCGGCTCCTCTGGAACCTGAAGCTGGGGCAGATGGTGCAGGCCAAGAGCTGTCACAAAGGCCCGTACAGGGCCTC
AGCCCATTAGCTAGGCAGGCATCCCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCAACACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACAGCCCTTCCCCTCCTTGCCCAGTCCCCTCCCCCTGCAAGGCACTCTCCACTCTTCTCCCCCAGGGGCCACAGGCAGACCTCCCCTCTGTCTCTCTGAACCCTCCTCTGTCTCTCCCAGACCCAGATGTTTCCTTCTGCCCTGGGGTAGTCCCAGGCCCTGCCCCAGGCAAAGTCAAACTGGGGGCTCCAGGGGCTCCCCTGCACCAAGGCCTGCAGAGTCAGGTTCTTCCTCCCGCACCACAGAGGGCGGGGCTTCCTGCCCACCCCACCCATGTCACTGCCCACCAGCGCCATCTCCCACACAGGGCCTGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCTGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGTAAGGAGGCCCCTGGCATTGGGCAGCCCTGCACCCATGGGGAAGGATGAGGGGCTCTTGCCCAGCCCCCTCAAGAGGGACACTGGCTCCTGAGAAGGAGGGGGCGGCTGCCCGGTGGTGTGGCCTCGGTGCCAGGGATTAGTCTCGGCAGGAGCCACGAAGTCACAGCTCCCGGCCTCTGATGCGGGATCTCAGGACGGCCTGTGATCTCCCAGTGGGAAGGTGCCCATCCACCGCCTCCTAAGGGGTGGGGTCCCTGCTCTCTCCCGGCCCTTTCTCCCCCGGCTCCTCTGGAACCTGAAGCTGGGGCAGATGGTGCAGGCCAAGAGCTGTCACAAAGGCCCGTACAGGGCCTC
Task1_train_5849
Consider a variant on Chromosome 2 in gene AGXT (alanine--glyoxylate aminotransferase). Determine its clinical classification and disease relevance.
Pathogenic; Cardiac arrhythmia
CCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACAGCCCTTCCCCTCCTTGCCCAGTCCCCTCCCCCTGCAAGGCACTCTCCACTCTTCTCCCCCAGGGGCCACAGGCAGACCTCCCCTCTGTCTCTCTGAACCCTCCTCTGTCTCTCCCAGACCCAGATGTTTCCTTCTGCCCTGGGGTAGTCCCAGGCCCTGCCCCAGGCAAAGTCAAACTGGGGGCTCCAGGGGCTCCCCTGCACCAAGGCCTGCAGAGTCAGGTTCTTCCTCCCGCACCACAGAGGGCGGGGCTTCCTGCCCACCCCACCCATGTCACTGCCCACCAGCGCCATCTCCCACACAGGGCCTGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCTGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGTAAGGAGGCCCCTGGCATTGGGCAGCCCTGCACCCATGGGGAAGGATGAGGGGCTCTTGCCCAGCCCCCTCAAGAGGGACACTGGCTCCTGAGAAGGAGGGGGCGGCTGCCCGGTGGTGTGGCCTCGGTGCCAGGGATTAGTCTCGGCAGGAGCCACGAAGTCACAGCTCCCGGCCTCTGATGCGGGATCTCAGGACGGCCTGTGATCTCCCAGTGGGAAGGTGCCCATCCACCGCCTCCTAAGGGGTGGGGTCCCTGCTCTCTCCCGGCCCTTTCTCCCCCGGCTCCTCTGGAACCTGAAGCTGGGGCAGATGGTGCAGGCCAAGAGCTGTCACAAAGGCCCGTACAGGGCCTCTCACCCACGCACTGAGCCAGGCCCCTCCTGCAGGCGCTCC
CCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGCGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACAGCCCTTCCCCTCCTTGCCCAGTCCCCTCCCCCTGCAAGGCACTCTCCACTCTTCTCCCCCAGGGGCCACAGGCAGACCTCCCCTCTGTCTCTCTGAACCCTCCTCTGTCTCTCCCAGACCCAGATGTTTCCTTCTGCCCTGGGGTAGTCCCAGGCCCTGCCCCAGGCAAAGTCAAACTGGGGGCTCCAGGGGCTCCCCTGCACCAAGGCCTGCAGAGTCAGGTTCTTCCTCCCGCACCACAGAGGGCGGGGCTTCCTGCCCACCCCACCCATGTCACTGCCCACCAGCGCCATCTCCCACACAGGGCCTGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCTGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGTAAGGAGGCCCCTGGCATTGGGCAGCCCTGCACCCATGGGGAAGGATGAGGGGCTCTTGCCCAGCCCCCTCAAGAGGGACACTGGCTCCTGAGAAGGAGGGGGCGGCTGCCCGGTGGTGTGGCCTCGGTGCCAGGGATTAGTCTCGGCAGGAGCCACGAAGTCACAGCTCCCGGCCTCTGATGCGGGATCTCAGGACGGCCTGTGATCTCCCAGTGGGAAGGTGCCCATCCACCGCCTCCTAAGGGGTGGGGTCCCTGCTCTCTCCCGGCCCTTTCTCCCCCGGCTCCTCTGGAACCTGAAGCTGGGGCAGATGGTGCAGGCCAAGAGCTGTCACAAAGGCCCGTACAGGGCCTCTCACCCACGCACTGAGCCAGGCCCCTCCTGCAGGCGCTCC
Task1_train_5850
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?
Pathogenic; Primary hyperoxaluria
CCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACAGCCCTTCCCCTCCTTGCCCAGTCCCCTCCCCCTGCAAGGCACTCTCCACTCTTCTCCCCCAGGGGCCACAGGCAGACCTCCCCTCTGTCTCTCTGAACCCTCCTCTGTCTCTCCCAGACCCAGATGTTTCCTTCTGCCCTGGGGTAGTCCCAGGCCCTGCCCCAGGCAAAGTCAAACTGGGGGCTCCAGGGGCTCCCCTGCACCAAGGCCTGCAGAGTCAGGTTCTTCCTCCCGCACCACAGAGGGCGGGGCTTCCTGCCCACCCCACCCATGTCACTGCCCACCAGCGCCATCTCCCACACAGGGCCTGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCTGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGTAAGGAGGCCCCTGGCATTGGGCAGCCCTGCACCCATGGGGAAGGATGAGGGGCTCTTGCCCAGCCCCCTCAAGAGGGACACTGGCTCCTGAGAAGGAGGGGGCGGCTGCCCGGTGGTGTGGCCTCGGTGCCAGGGATTAGTCTCGGCAGGAGCCACGAAGTCACAGCTCCCGGCCTCTGATGCGGGATCTCAGGACGGCCTGTGATCTCCCAGTGGGAAGGTGCCCATCCACCGCCTCCTAAGGGGTGGGGTCCCTGCTCTCTCCCGGCCCTTTCTCCCCCGGCTCCTCTGGAACCTGAAGCTGGGGCAGATGGTGCAGGCCAAGAGCTGTCACAAAGGCCCGTACAGGGCCTCTCACCCACGCACTGAGCCAGGCCCCTCCTGCAGGCGCTCC
CCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGCGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACAGCCCTTCCCCTCCTTGCCCAGTCCCCTCCCCCTGCAAGGCACTCTCCACTCTTCTCCCCCAGGGGCCACAGGCAGACCTCCCCTCTGTCTCTCTGAACCCTCCTCTGTCTCTCCCAGACCCAGATGTTTCCTTCTGCCCTGGGGTAGTCCCAGGCCCTGCCCCAGGCAAAGTCAAACTGGGGGCTCCAGGGGCTCCCCTGCACCAAGGCCTGCAGAGTCAGGTTCTTCCTCCCGCACCACAGAGGGCGGGGCTTCCTGCCCACCCCACCCATGTCACTGCCCACCAGCGCCATCTCCCACACAGGGCCTGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCTGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGTAAGGAGGCCCCTGGCATTGGGCAGCCCTGCACCCATGGGGAAGGATGAGGGGCTCTTGCCCAGCCCCCTCAAGAGGGACACTGGCTCCTGAGAAGGAGGGGGCGGCTGCCCGGTGGTGTGGCCTCGGTGCCAGGGATTAGTCTCGGCAGGAGCCACGAAGTCACAGCTCCCGGCCTCTGATGCGGGATCTCAGGACGGCCTGTGATCTCCCAGTGGGAAGGTGCCCATCCACCGCCTCCTAAGGGGTGGGGTCCCTGCTCTCTCCCGGCCCTTTCTCCCCCGGCTCCTCTGGAACCTGAAGCTGGGGCAGATGGTGCAGGCCAAGAGCTGTCACAAAGGCCCGTACAGGGCCTCTCACCCACGCACTGAGCCAGGCCCCTCCTGCAGGCGCTCC
Task1_train_5851
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.
Pathogenic; Primary hyperoxaluria, type I
CGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACAGCCCTTCCCCTCCTTGCCCAGTCCCCTCCCCCTGCAAGGCACTCTCCACTCTTCTCCCCCAGGGGCCACAGGCAGACCTCCCCTCTGTCTCTCTGAACCCTCCTCTGTCTCTCCCAGACCCAGATGTTTCCTTCTGCCCTGGGGTAGTCCCAGGCCCTGCCCCAGGCAAAGTCAAACTGGGGGCTCCAGGGGCTCCCCTGCACCAAGGCCTGCAGAGTCAGGTTCTTCCTCCCGCACCACAGAGGGCGGGGCTTCCTGCCCACCCCACCCATGTCACTGCCCACCAGCGCCATCTCCCACACAGGGCCTGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCTGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGTAAGGAGGCCCCTGGCATTGGGCAGCCCTGCACCCATGGGGAAGGATGAGGGGCTCTTGCCCAGCCCCCTCAAGAGGGACACTGGCTCCTGAGAAGGAGGGGGCGGCTGCCCGGTGGTGTGGCCTCGGTGCCAGGGATTAGTCTCGGCAGGAGCCACGAAGTCACAGCTCCCGGCCTCTGATGCGGGATCTCAGGACGGCCTGTGATCTCCCAGTGGGAAGGTGCCCATCCACCGCCTCCTAAGGGGTGGGGTCCCTGCTCTCTCCCGGCCCTTTCTCCCCCGGCTCCTCTGGAACCTGAAGCTGGGGCAGATGGTGCAGGCCAAGAGCTGTCACAAAGGCCCGTACAGGGCCTCTCACCCACGCACTGAGCCAGGCCCCTCCTGCAGGCGCTCCGGCTTCCCACAGTCACCACTGTG
CGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCCGGGCGAGGGGAGGGCTGCAGGCGTGTGCAGGGTGCAGAGTCCACTGCTCTGGAAGTTCCCAGCTTCACAGCAAGGAGTGACCAGGAAAGGACTGAGGGCCTGAGGCCCAGTGCCCTGACCGGCCTCTGCCCTGGCTCAGCTTCCAGGGGCTGCCCCAAGGGACAACGTGGGCCACACACAGTGCCCCCTGCAGTCCCAATCTCACCTCCCGCTCCTGGTGTCCAGATTCTGAGCCAGGCCGGGCAGGGGGTAGGGGAAGGGGGCCAGACCTCACAGGCGGTTCCCATCCAGCTGCAGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTCACTGCACTCAGGGATTCTCCAAGCCCCCCACCTTCATGCCTCAAGAACCCCAACTAGAGCCCCAGAATCCGCCTGCATCAGGCAGTCAAATGCCCCACCCTGGGTTCCCCCATTCCTCGACTGGCCCGAGGCTCTGGGCAGGGTCATGGCCCCCACTGCCGCTTCCACAAACACTGTCCCCCCAGAGGTCCCAGCACACCCTCGGGCACTTTGGACCTGGCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACACGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACAGCCCTTCCCCTCCTTGCCCAGTCCCCTCCCCCTGCAAGGCACTCTCCACTCTTCTCCCCCAGGGGCCACAGGCAGACCTCCCCTCTGTCTCTCTGAACCCTCCTCTGTCTCTCCCAGACCCAGATGTTTCCTTCTGCCCTGGGGTAGTCCCAGGCCCTGCCCCAGGCAAAGTCAAACTGGGGGCTCCAGGGGCTCCCCTGCACCAAGGCCTGCAGAGTCAGGTTCTTCCTCCCGCACCACAGAGGGCGGGGCTTCCTGCCCACCCCACCCATGTCACTGCCCACCAGCGCCATCTCCCACACAGGGCCTGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCTGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGTAAGGAGGCCCCTGGCATTGGGCAGCCCTGCACCCATGGGGAAGGATGAGGGGCTCTTGCCCAGCCCCCTCAAGAGGGACACTGGCTCCTGAGAAGGAGGGGGCGGCTGCCCGGTGGTGTGGCCTCGGTGCCAGGGATTAGTCTCGGCAGGAGCCACGAAGTCACAGCTCCCGGCCTCTGATGCGGGATCTCAGGACGGCCTGTGATCTCCCAGTGGGAAGGTGCCCATCCACCGCCTCCTAAGGGGTGGGGTCCCTGCTCTCTCCCGGCCCTTTCTCCCCCGGCTCCTCTGGAACCTGAAGCTGGGGCAGATGGTGCAGGCCAAGAGCTGTCACAAAGGCCCGTACAGGGCCTCTCACCCACGCACTGAGCCAGGCCCCTCCTGCAGGCGCTCCGGCTTCCCACAGTCACCACTGTG
Task1_train_5852
This mutation occurs in AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Primary hyperoxaluria, type I
GCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACAGCCCTTCCCCTCCTTGCCCAGTCCCCTCCCCCTGCAAGGCACTCTCCACTCTTCTCCCCCAGGGGCCACAGGCAGACCTCCCCTCTGTCTCTCTGAACCCTCCTCTGTCTCTCCCAGACCCAGATGTTTCCTTCTGCCCTGGGGTAGTCCCAGGCCCTGCCCCAGGCAAAGTCAAACTGGGGGCTCCAGGGGCTCCCCTGCACCAAGGCCTGCAGAGTCAGGTTCTTCCTCCCGCACCACAGAGGGCGGGGCTTCCTGCCCACCCCACCCATGTCACTGCCCACCAGCGCCATCTCCCACACAGGGCCTGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCTGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGTAAGGAGGCCCCTGGCATTGGGCAGCCCTGCACCCATGGGGAAGGATGAGGGGCTCTTGCCCAGCCCCCTCAAGAGGGACACTGGCTCCTGAGAAGGAGGGGGCGGCTGCCCGGTGGTGTGGCCTCGGTGCCAGGGATTAGTCTCGGCAGGAGCCACGAAGTCACAGCTCCCGGCCTCTGATGCGGGATCTCAGGACGGCCTGTGATCTCCCAGTGGGAAGGTGCCCATCCACCGCCTCCTAAGGGGTGGGGTCCCTGCTCTCTCCCGGCCCTTTCTCCCCCGGCTCCTCTGGAACCTGAAGCTGGGGCAGATGGTGCAGGCCAAGAGCTGTCACAAAGGCCCGTACAGGGCCTCTCACCCACGCACTGAGCCAGGCCCCTCCTGCAGGCGCTCCGGCTTCCCACAGTCACCACTGTGGCTGTACCCGCTGGCTATGACTGGAGAGACATCGTCAGCTACGTCATAGACCACTTCGACATTGAGATCATGGGTGGCCTTGGGCCCTCCACGGGGAAGGTGAGAGGGAGCGCCTCGAGGGCCTTTTGCAGAAACCAAACCCGCCACCCCTCCTTGAGCAGGACTGTGCACCAGGTGCAGGGGAGGCCGGGGTCATCCGAAAGCCCAGATTGCAGGAGCGTCCAGAAGGGCCCACTCTCCAAGGGGTATCCAGTAAAGCGTATCCTGTCGCCCCTGCTCCCACCCCAGCCCACTGAGGTCACCAGGTGCAGCCTTTATGATTCCACTCGGAACATCCTTCCTTCCCTCTGACCAGACCCTGGAACCAGGCCGGAAGCCCCACGCCTGGGCCTGGCTGTGTCTCTGAGTGGCAGTGGGGAGGGACCTTCACTGCACCACCCTGTCCTCCCGTGTGGCTGCGGGTGCAGAGGGAGGAGAGCCTGCCCTGGCCTGGGTGCTCAAGGGCCCCCTCTGTGACCTGCACAGGGCTGTCAACTCCCCTCATGGACGCTGGGTGGGTGGTCCTCACTCAGGTGAGCCCATCCTGGCTCTGGCCAGCTGTCGGTCAGGGTCAGGCAGGTCCCAGGCGGGAGGCTGACGTCAGCCCGCCCTGTGCCCCCCAGGTGCTGCGGATCGGCCTGCTGGGCTGCAATGCCACCCGCGAGAATGTGGACCGCGTGACGGAGGCCCTGAGGGCGGCCCTGCAGCACTGCCCCAAGAAGAAGCTGTGACCTGCCCACTGGCACACAGCTGGCACTGGCACACACCTGTCCCATGCCCACCCTGAGGGATCAGGAGCAAACAGACCCTGCAAGGTCCTCCAGGCCTGGGGACAGGAAAGCCACTGACCCAGCCCGGGAGGCAGAACCAGGCAGCCTCCCTGGCCCCAGGCAGCCCTTTTCCCTCCAGTGGCACCTCCTGGAAACAGTCCACTTGGGCGCAAAACCCAGTGCCTTCCAAATGAGCTGCAGTCCCCAGGCCATGAGCCTCCCGGGAATGTTTAATAAAGGGCCTGGCCAACTCTCCTCACTGTGTGGGGTGGTCTGTGAAAGAGTGAGAGGAGAGCATCTCTGCTCCCTGAGCTGCCTGATTGTGGACTTTAGGGGGACACTCCTCATCCTGGAGCCCACAGGGTAGATCCTCCCCTGGAGGAGGTGCTGTCACCACACTCTAGCCCCAGATGTCACACCCCCAAACGTCCTCACGCACCACATCCAGGTGAACCCACACGGCGCACAGGGCTGGTTGGAGACCCCTGTCATGGACAAGGGTACCTGCGTGCTGGAGAGCGCACAGCCAGGACCTGAGCCCATGACACGTGGAAGCCTCCAATGGAAGGTCCCCTATGCTCCCATCCAGCCAGTGCCCACCCCTCAACTGCCTGACTTCTGTGACCATAGATCAGCCTGGCATATTTGAATTTATTTATTTATTTTGAAACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTAC
GCCCTGCCACATCTCCCCACTCCTGGGCCTCAGCTTACCCCTTCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACAGCCCTTCCCCTCCTTGCCCAGTCCCCTCCCCCTGCAAGGCACTCTCCACTCTTCTCCCCCAGGGGCCACAGGCAGACCTCCCCTCTGTCTCTCTGAACCCTCCTCTGTCTCTCCCAGACCCAGATGTTTCCTTCTGCCCTGGGGTAGTCCCAGGCCCTGCCCCAGGCAAAGTCAAACTGGGGGCTCCAGGGGCTCCCCTGCACCAAGGCCTGCAGAGTCAGGTTCTTCCTCCCGCACCACAGAGGGCGGGGCTTCCTGCCCACCCCACCCATGTCACTGCCCACCAGCGCCATCTCCCACACAGGGCCCGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCTGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGTAAGGAGGCCCCTGGCATTGGGCAGCCCTGCACCCATGGGGAAGGATGAGGGGCTCTTGCCCAGCCCCCTCAAGAGGGACACTGGCTCCTGAGAAGGAGGGGGCGGCTGCCCGGTGGTGTGGCCTCGGTGCCAGGGATTAGTCTCGGCAGGAGCCACGAAGTCACAGCTCCCGGCCTCTGATGCGGGATCTCAGGACGGCCTGTGATCTCCCAGTGGGAAGGTGCCCATCCACCGCCTCCTAAGGGGTGGGGTCCCTGCTCTCTCCCGGCCCTTTCTCCCCCGGCTCCTCTGGAACCTGAAGCTGGGGCAGATGGTGCAGGCCAAGAGCTGTCACAAAGGCCCGTACAGGGCCTCTCACCCACGCACTGAGCCAGGCCCCTCCTGCAGGCGCTCCGGCTTCCCACAGTCACCACTGTGGCTGTACCCGCTGGCTATGACTGGAGAGACATCGTCAGCTACGTCATAGACCACTTCGACATTGAGATCATGGGTGGCCTTGGGCCCTCCACGGGGAAGGTGAGAGGGAGCGCCTCGAGGGCCTTTTGCAGAAACCAAACCCGCCACCCCTCCTTGAGCAGGACTGTGCACCAGGTGCAGGGGAGGCCGGGGTCATCCGAAAGCCCAGATTGCAGGAGCGTCCAGAAGGGCCCACTCTCCAAGGGGTATCCAGTAAAGCGTATCCTGTCGCCCCTGCTCCCACCCCAGCCCACTGAGGTCACCAGGTGCAGCCTTTATGATTCCACTCGGAACATCCTTCCTTCCCTCTGACCAGACCCTGGAACCAGGCCGGAAGCCCCACGCCTGGGCCTGGCTGTGTCTCTGAGTGGCAGTGGGGAGGGACCTTCACTGCACCACCCTGTCCTCCCGTGTGGCTGCGGGTGCAGAGGGAGGAGAGCCTGCCCTGGCCTGGGTGCTCAAGGGCCCCCTCTGTGACCTGCACAGGGCTGTCAACTCCCCTCATGGACGCTGGGTGGGTGGTCCTCACTCAGGTGAGCCCATCCTGGCTCTGGCCAGCTGTCGGTCAGGGTCAGGCAGGTCCCAGGCGGGAGGCTGACGTCAGCCCGCCCTGTGCCCCCCAGGTGCTGCGGATCGGCCTGCTGGGCTGCAATGCCACCCGCGAGAATGTGGACCGCGTGACGGAGGCCCTGAGGGCGGCCCTGCAGCACTGCCCCAAGAAGAAGCTGTGACCTGCCCACTGGCACACAGCTGGCACTGGCACACACCTGTCCCATGCCCACCCTGAGGGATCAGGAGCAAACAGACCCTGCAAGGTCCTCCAGGCCTGGGGACAGGAAAGCCACTGACCCAGCCCGGGAGGCAGAACCAGGCAGCCTCCCTGGCCCCAGGCAGCCCTTTTCCCTCCAGTGGCACCTCCTGGAAACAGTCCACTTGGGCGCAAAACCCAGTGCCTTCCAAATGAGCTGCAGTCCCCAGGCCATGAGCCTCCCGGGAATGTTTAATAAAGGGCCTGGCCAACTCTCCTCACTGTGTGGGGTGGTCTGTGAAAGAGTGAGAGGAGAGCATCTCTGCTCCCTGAGCTGCCTGATTGTGGACTTTAGGGGGACACTCCTCATCCTGGAGCCCACAGGGTAGATCCTCCCCTGGAGGAGGTGCTGTCACCACACTCTAGCCCCAGATGTCACACCCCCAAACGTCCTCACGCACCACATCCAGGTGAACCCACACGGCGCACAGGGCTGGTTGGAGACCCCTGTCATGGACAAGGGTACCTGCGTGCTGGAGAGCGCACAGCCAGGACCTGAGCCCATGACACGTGGAAGCCTCCAATGGAAGGTCCCCTATGCTCCCATCCAGCCAGTGCCCACCCCTCAACTGCCTGACTTCTGTGACCATAGATCAGCCTGGCATATTTGAATTTATTTATTTATTTTGAAACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTAC
Task1_train_5853
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?
Pathogenic; Primary hyperoxaluria
TCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACAGCCCTTCCCCTCCTTGCCCAGTCCCCTCCCCCTGCAAGGCACTCTCCACTCTTCTCCCCCAGGGGCCACAGGCAGACCTCCCCTCTGTCTCTCTGAACCCTCCTCTGTCTCTCCCAGACCCAGATGTTTCCTTCTGCCCTGGGGTAGTCCCAGGCCCTGCCCCAGGCAAAGTCAAACTGGGGGCTCCAGGGGCTCCCCTGCACCAAGGCCTGCAGAGTCAGGTTCTTCCTCCCGCACCACAGAGGGCGGGGCTTCCTGCCCACCCCACCCATGTCACTGCCCACCAGCGCCATCTCCCACACAGGGCCTGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCTGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGTAAGGAGGCCCCTGGCATTGGGCAGCCCTGCACCCATGGGGAAGGATGAGGGGCTCTTGCCCAGCCCCCTCAAGAGGGACACTGGCTCCTGAGAAGGAGGGGGCGGCTGCCCGGTGGTGTGGCCTCGGTGCCAGGGATTAGTCTCGGCAGGAGCCACGAAGTCACAGCTCCCGGCCTCTGATGCGGGATCTCAGGACGGCCTGTGATCTCCCAGTGGGAAGGTGCCCATCCACCGCCTCCTAAGGGGTGGGGTCCCTGCTCTCTCCCGGCCCTTTCTCCCCCGGCTCCTCTGGAACCTGAAGCTGGGGCAGATGGTGCAGGCCAAGAGCTGTCACAAAGGCCCGTACAGGGCCTCTCACCCACGCACTGAGCCAGGCCCCTCCTGCAGGCGCTCCGGCTTCCCACAGTCACCACTGTGGCTGTACCCGCTGGCTATGACTGGAGAGACATCGTCAGCTACGTCATAGACCACTTCGACATTGAGATCATGGGTGGCCTTGGGCCCTCCACGGGGAAGGTGAGAGGGAGCGCCTCGAGGGCCTTTTGCAGAAACCAAACCCGCCACCCCTCCTTGAGCAGGACTGTGCACCAGGTGCAGGGGAGGCCGGGGTCATCCGAAAGCCCAGATTGCAGGAGCGTCCAGAAGGGCCCACTCTCCAAGGGGTATCCAGTAAAGCGTATCCTGTCGCCCCTGCTCCCACCCCAGCCCACTGAGGTCACCAGGTGCAGCCTTTATGATTCCACTCGGAACATCCTTCCTTCCCTCTGACCAGACCCTGGAACCAGGCCGGAAGCCCCACGCCTGGGCCTGGCTGTGTCTCTGAGTGGCAGTGGGGAGGGACCTTCACTGCACCACCCTGTCCTCCCGTGTGGCTGCGGGTGCAGAGGGAGGAGAGCCTGCCCTGGCCTGGGTGCTCAAGGGCCCCCTCTGTGACCTGCACAGGGCTGTCAACTCCCCTCATGGACGCTGGGTGGGTGGTCCTCACTCAGGTGAGCCCATCCTGGCTCTGGCCAGCTGTCGGTCAGGGTCAGGCAGGTCCCAGGCGGGAGGCTGACGTCAGCCCGCCCTGTGCCCCCCAGGTGCTGCGGATCGGCCTGCTGGGCTGCAATGCCACCCGCGAGAATGTGGACCGCGTGACGGAGGCCCTGAGGGCGGCCCTGCAGCACTGCCCCAAGAAGAAGCTGTGACCTGCCCACTGGCACACAGCTGGCACTGGCACACACCTGTCCCATGCCCACCCTGAGGGATCAGGAGCAAACAGACCCTGCAAGGTCCTCCAGGCCTGGGGACAGGAAAGCCACTGACCCAGCCCGGGAGGCAGAACCAGGCAGCCTCCCTGGCCCCAGGCAGCCCTTTTCCCTCCAGTGGCACCTCCTGGAAACAGTCCACTTGGGCGCAAAACCCAGTGCCTTCCAAATGAGCTGCAGTCCCCAGGCCATGAGCCTCCCGGGAATGTTTAATAAAGGGCCTGGCCAACTCTCCTCACTGTGTGGGGTGGTCTGTGAAAGAGTGAGAGGAGAGCATCTCTGCTCCCTGAGCTGCCTGATTGTGGACTTTAGGGGGACACTCCTCATCCTGGAGCCCACAGGGTAGATCCTCCCCTGGAGGAGGTGCTGTCACCACACTCTAGCCCCAGATGTCACACCCCCAAACGTCCTCACGCACCACATCCAGGTGAACCCACACGGCGCACAGGGCTGGTTGGAGACCCCTGTCATGGACAAGGGTACCTGCGTGCTGGAGAGCGCACAGCCAGGACCTGAGCCCATGACACGTGGAAGCCTCCAATGGAAGGTCCCCTATGCTCCCATCCAGCCAGTGCCCACCCCTCAACTGCCTGACTTCTGTGACCATAGATCAGCCTGGCATATTTGAATTTATTTATTTATTTTGAAACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTACAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGGC
TCTGAAAAGACGACCTTGGCCATAAACCCAAGGCCCCTTATGTTACACACAGGAACAAGGCGCCAGGAATGGTGCCCTAGCCCAGTGGGCACAGAGGGCCAGTGCCGGCTTCGCAGGCACGCTGGGACTGAGGGGCTCCGCAGGGAGGTGGTGGCACGTGTCTCTGCTCCTGCAGCCACCCACTGCCTCCTGGCTGGGCCCTACACAAGCCATGCTCTCCCTGGCAGACGAAGCTGCCTTCCCGGTCCAAAGTTCTGAACCCGGACAGGACTCCTCTGCGGAGGATACCGGCCTGTGGTCAGAGAGCCTGTGCTGTTGGGGCTGGGGCAGACAGAGCTAATGCCCCATCTGCCCCCAACCCTGCCCATGGTGCTGGACCAAGCCCCCTCGTGTCTTCCAGGTACCATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACAGCCCTTCCCCTCCTTGCCCAGTCCCCTCCCCCTGCAAGGCACTCTCCACTCTTCTCCCCCAGGGGCCACAGGCAGACCTCCCCTCTGTCTCTCTGAACCCTCCTCTGTCTCTCCCAGACCCAGATGTTTCCTTCTGCCCTGGGGTAGTCCCAGGCCCTGCCCCAGGCAAAGTCAAACTGGGGGCTCCAGGGGCTCCCCTGCACCAAGGCCTGCAGAGTCAGGTTCTTCCTCCCGCACCACAGAGGGCGGGGCTTCCTGCCCACCCCACCCATGTCACTGCCCACCAGCGCCATCTCCCACACAGGGCCTGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCCGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGTAAGGAGGCCCCTGGCATTGGGCAGCCCTGCACCCATGGGGAAGGATGAGGGGCTCTTGCCCAGCCCCCTCAAGAGGGACACTGGCTCCTGAGAAGGAGGGGGCGGCTGCCCGGTGGTGTGGCCTCGGTGCCAGGGATTAGTCTCGGCAGGAGCCACGAAGTCACAGCTCCCGGCCTCTGATGCGGGATCTCAGGACGGCCTGTGATCTCCCAGTGGGAAGGTGCCCATCCACCGCCTCCTAAGGGGTGGGGTCCCTGCTCTCTCCCGGCCCTTTCTCCCCCGGCTCCTCTGGAACCTGAAGCTGGGGCAGATGGTGCAGGCCAAGAGCTGTCACAAAGGCCCGTACAGGGCCTCTCACCCACGCACTGAGCCAGGCCCCTCCTGCAGGCGCTCCGGCTTCCCACAGTCACCACTGTGGCTGTACCCGCTGGCTATGACTGGAGAGACATCGTCAGCTACGTCATAGACCACTTCGACATTGAGATCATGGGTGGCCTTGGGCCCTCCACGGGGAAGGTGAGAGGGAGCGCCTCGAGGGCCTTTTGCAGAAACCAAACCCGCCACCCCTCCTTGAGCAGGACTGTGCACCAGGTGCAGGGGAGGCCGGGGTCATCCGAAAGCCCAGATTGCAGGAGCGTCCAGAAGGGCCCACTCTCCAAGGGGTATCCAGTAAAGCGTATCCTGTCGCCCCTGCTCCCACCCCAGCCCACTGAGGTCACCAGGTGCAGCCTTTATGATTCCACTCGGAACATCCTTCCTTCCCTCTGACCAGACCCTGGAACCAGGCCGGAAGCCCCACGCCTGGGCCTGGCTGTGTCTCTGAGTGGCAGTGGGGAGGGACCTTCACTGCACCACCCTGTCCTCCCGTGTGGCTGCGGGTGCAGAGGGAGGAGAGCCTGCCCTGGCCTGGGTGCTCAAGGGCCCCCTCTGTGACCTGCACAGGGCTGTCAACTCCCCTCATGGACGCTGGGTGGGTGGTCCTCACTCAGGTGAGCCCATCCTGGCTCTGGCCAGCTGTCGGTCAGGGTCAGGCAGGTCCCAGGCGGGAGGCTGACGTCAGCCCGCCCTGTGCCCCCCAGGTGCTGCGGATCGGCCTGCTGGGCTGCAATGCCACCCGCGAGAATGTGGACCGCGTGACGGAGGCCCTGAGGGCGGCCCTGCAGCACTGCCCCAAGAAGAAGCTGTGACCTGCCCACTGGCACACAGCTGGCACTGGCACACACCTGTCCCATGCCCACCCTGAGGGATCAGGAGCAAACAGACCCTGCAAGGTCCTCCAGGCCTGGGGACAGGAAAGCCACTGACCCAGCCCGGGAGGCAGAACCAGGCAGCCTCCCTGGCCCCAGGCAGCCCTTTTCCCTCCAGTGGCACCTCCTGGAAACAGTCCACTTGGGCGCAAAACCCAGTGCCTTCCAAATGAGCTGCAGTCCCCAGGCCATGAGCCTCCCGGGAATGTTTAATAAAGGGCCTGGCCAACTCTCCTCACTGTGTGGGGTGGTCTGTGAAAGAGTGAGAGGAGAGCATCTCTGCTCCCTGAGCTGCCTGATTGTGGACTTTAGGGGGACACTCCTCATCCTGGAGCCCACAGGGTAGATCCTCCCCTGGAGGAGGTGCTGTCACCACACTCTAGCCCCAGATGTCACACCCCCAAACGTCCTCACGCACCACATCCAGGTGAACCCACACGGCGCACAGGGCTGGTTGGAGACCCCTGTCATGGACAAGGGTACCTGCGTGCTGGAGAGCGCACAGCCAGGACCTGAGCCCATGACACGTGGAAGCCTCCAATGGAAGGTCCCCTATGCTCCCATCCAGCCAGTGCCCACCCCTCAACTGCCTGACTTCTGTGACCATAGATCAGCCTGGCATATTTGAATTTATTTATTTATTTTGAAACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTACAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGGC
Task1_train_5854
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
GAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACAGCCCTTCCCCTCCTTGCCCAGTCCCCTCCCCCTGCAAGGCACTCTCCACTCTTCTCCCCCAGGGGCCACAGGCAGACCTCCCCTCTGTCTCTCTGAACCCTCCTCTGTCTCTCCCAGACCCAGATGTTTCCTTCTGCCCTGGGGTAGTCCCAGGCCCTGCCCCAGGCAAAGTCAAACTGGGGGCTCCAGGGGCTCCCCTGCACCAAGGCCTGCAGAGTCAGGTTCTTCCTCCCGCACCACAGAGGGCGGGGCTTCCTGCCCACCCCACCCATGTCACTGCCCACCAGCGCCATCTCCCACACAGGGCCTGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCTGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGTAAGGAGGCCCCTGGCATTGGGCAGCCCTGCACCCATGGGGAAGGATGAGGGGCTCTTGCCCAGCCCCCTCAAGAGGGACACTGGCTCCTGAGAAGGAGGGGGCGGCTGCCCGGTGGTGTGGCCTCGGTGCCAGGGATTAGTCTCGGCAGGAGCCACGAAGTCACAGCTCCCGGCCTCTGATGCGGGATCTCAGGACGGCCTGTGATCTCCCAGTGGGAAGGTGCCCATCCACCGCCTCCTAAGGGGTGGGGTCCCTGCTCTCTCCCGGCCCTTTCTCCCCCGGCTCCTCTGGAACCTGAAGCTGGGGCAGATGGTGCAGGCCAAGAGCTGTCACAAAGGCCCGTACAGGGCCTCTCACCCACGCACTGAGCCAGGCCCCTCCTGCAGGCGCTCCGGCTTCCCACAGTCACCACTGTGGCTGTACCCGCTGGCTATGACTGGAGAGACATCGTCAGCTACGTCATAGACCACTTCGACATTGAGATCATGGGTGGCCTTGGGCCCTCCACGGGGAAGGTGAGAGGGAGCGCCTCGAGGGCCTTTTGCAGAAACCAAACCCGCCACCCCTCCTTGAGCAGGACTGTGCACCAGGTGCAGGGGAGGCCGGGGTCATCCGAAAGCCCAGATTGCAGGAGCGTCCAGAAGGGCCCACTCTCCAAGGGGTATCCAGTAAAGCGTATCCTGTCGCCCCTGCTCCCACCCCAGCCCACTGAGGTCACCAGGTGCAGCCTTTATGATTCCACTCGGAACATCCTTCCTTCCCTCTGACCAGACCCTGGAACCAGGCCGGAAGCCCCACGCCTGGGCCTGGCTGTGTCTCTGAGTGGCAGTGGGGAGGGACCTTCACTGCACCACCCTGTCCTCCCGTGTGGCTGCGGGTGCAGAGGGAGGAGAGCCTGCCCTGGCCTGGGTGCTCAAGGGCCCCCTCTGTGACCTGCACAGGGCTGTCAACTCCCCTCATGGACGCTGGGTGGGTGGTCCTCACTCAGGTGAGCCCATCCTGGCTCTGGCCAGCTGTCGGTCAGGGTCAGGCAGGTCCCAGGCGGGAGGCTGACGTCAGCCCGCCCTGTGCCCCCCAGGTGCTGCGGATCGGCCTGCTGGGCTGCAATGCCACCCGCGAGAATGTGGACCGCGTGACGGAGGCCCTGAGGGCGGCCCTGCAGCACTGCCCCAAGAAGAAGCTGTGACCTGCCCACTGGCACACAGCTGGCACTGGCACACACCTGTCCCATGCCCACCCTGAGGGATCAGGAGCAAACAGACCCTGCAAGGTCCTCCAGGCCTGGGGACAGGAAAGCCACTGACCCAGCCCGGGAGGCAGAACCAGGCAGCCTCCCTGGCCCCAGGCAGCCCTTTTCCCTCCAGTGGCACCTCCTGGAAACAGTCCACTTGGGCGCAAAACCCAGTGCCTTCCAAATGAGCTGCAGTCCCCAGGCCATGAGCCTCCCGGGAATGTTTAATAAAGGGCCTGGCCAACTCTCCTCACTGTGTGGGGTGGTCTGTGAAAGAGTGAGAGGAGAGCATCTCTGCTCCCTGAGCTGCCTGATTGTGGACTTTAGGGGGACACTCCTCATCCTGGAGCCCACAGGGTAGATCCTCCCCTGGAGGAGGTGCTGTCACCACACTCTAGCCCCAGATGTCACACCCCCAAACGTCCTCACGCACCACATCCAGGTGAACCCACACGGCGCACAGGGCTGGTTGGAGACCCCTGTCATGGACAAGGGTACCTGCGTGCTGGAGAGCGCACAGCCAGGACCTGAGCCCATGACACGTGGAAGCCTCCAATGGAAGGTCCCCTATGCTCCCATCCAGCCAGTGCCCACCCCTCAACTGCCTGACTTCTGTGACCATAGATCAGCCTGGCATATTTGAATTTATTTATTTATTTTGAAACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTACAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGGCTCCGGATTAGCTGGGACTACAGGTGTGCACCACCATGCCCGGCTAATTTTTGTATTTTTAGTACAGATGGGGTTTCACTATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCAGCCATAGTTGAATTTCATGGTCAGTGGAACACACAGCAGGTCCTCCACTGTGCCAGCTTCTTTCACTTACTGTTTTTGACACTCACATGTACCGTCGTGGGCGCCGGTGTGTCTTTGTTGCTGAGTGCCGTCCCGTCATATGGACGTGCGTCGTGGGCGCCGGTGTGTCTTGTTGCTGAGTGCCGTCCCGTCATATGGACACCTCATGATTTGTTGGTTCATCACCATAGTTGAGCATCTGGGTTATTTCTATTTTGGGGCTGTTAT
GAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACAGCCCTTCCCCTCCTTGCCCAGTCCCCTCCCCCTGCAAGGCACTCTCCACTCTTCTCCCCCAGGGGCCACAGGCAGACCTCCCCTCTGTCTCTCTGAACCCTCCTCTGTCTCTCCCAGACCCAGATGTTTCCTTCTGCCCTGGGGTAGTCCCAGGCCCTGCCCCAGGCAAAGTCAAACTGGGGGCTCCAGGGGCTCCCCTGCACCAAGGCCTGCAGAGTCAGGTTCTTCCTCCCGCACCACAGAGGGCGGGGCTTCCTGCCCACCCCACCCATGTCACTGCCCACCAGCGCCATCTCCCACACAGGGCCTGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCTGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGTAAGGAGGCCCCTGGCATTGGGCAGCCCTGCACCCATGGGGAAGGATGAGGGGCTCTTGCCCAGCCCCCTCAAGAGGGACACTGGCTCCTGAGAAGGAGGGGGCGGCTGCCCGGTGGTGTGGCCTCGGTGCCAGGGATTAGTCTCGGCAGGAGCCACGAAGTCACAGCTCCCGGCCTCTGATGCGGGATCTCAGGACGGCCTGTGATCTCCCAGTGGGAAGGTGCCCATCCACCGCCTCCTAAGGGGTGGGGTCCCTGCTCTCTCCCGGCCCTTTCTCCCCCGGCTCCTCTGGAACCTGAAGCTGGGGCAGATGGTGCAGGCCAAGAGCTGTCACAAAGGCCCGTACAGGGCCTCTCACCCACGCACTGAGCCAGGCCCCTCCTGCAGGCGCCCCGGCTTCCCACAGTCACCACTGTGGCTGTACCCGCTGGCTATGACTGGAGAGACATCGTCAGCTACGTCATAGACCACTTCGACATTGAGATCATGGGTGGCCTTGGGCCCTCCACGGGGAAGGTGAGAGGGAGCGCCTCGAGGGCCTTTTGCAGAAACCAAACCCGCCACCCCTCCTTGAGCAGGACTGTGCACCAGGTGCAGGGGAGGCCGGGGTCATCCGAAAGCCCAGATTGCAGGAGCGTCCAGAAGGGCCCACTCTCCAAGGGGTATCCAGTAAAGCGTATCCTGTCGCCCCTGCTCCCACCCCAGCCCACTGAGGTCACCAGGTGCAGCCTTTATGATTCCACTCGGAACATCCTTCCTTCCCTCTGACCAGACCCTGGAACCAGGCCGGAAGCCCCACGCCTGGGCCTGGCTGTGTCTCTGAGTGGCAGTGGGGAGGGACCTTCACTGCACCACCCTGTCCTCCCGTGTGGCTGCGGGTGCAGAGGGAGGAGAGCCTGCCCTGGCCTGGGTGCTCAAGGGCCCCCTCTGTGACCTGCACAGGGCTGTCAACTCCCCTCATGGACGCTGGGTGGGTGGTCCTCACTCAGGTGAGCCCATCCTGGCTCTGGCCAGCTGTCGGTCAGGGTCAGGCAGGTCCCAGGCGGGAGGCTGACGTCAGCCCGCCCTGTGCCCCCCAGGTGCTGCGGATCGGCCTGCTGGGCTGCAATGCCACCCGCGAGAATGTGGACCGCGTGACGGAGGCCCTGAGGGCGGCCCTGCAGCACTGCCCCAAGAAGAAGCTGTGACCTGCCCACTGGCACACAGCTGGCACTGGCACACACCTGTCCCATGCCCACCCTGAGGGATCAGGAGCAAACAGACCCTGCAAGGTCCTCCAGGCCTGGGGACAGGAAAGCCACTGACCCAGCCCGGGAGGCAGAACCAGGCAGCCTCCCTGGCCCCAGGCAGCCCTTTTCCCTCCAGTGGCACCTCCTGGAAACAGTCCACTTGGGCGCAAAACCCAGTGCCTTCCAAATGAGCTGCAGTCCCCAGGCCATGAGCCTCCCGGGAATGTTTAATAAAGGGCCTGGCCAACTCTCCTCACTGTGTGGGGTGGTCTGTGAAAGAGTGAGAGGAGAGCATCTCTGCTCCCTGAGCTGCCTGATTGTGGACTTTAGGGGGACACTCCTCATCCTGGAGCCCACAGGGTAGATCCTCCCCTGGAGGAGGTGCTGTCACCACACTCTAGCCCCAGATGTCACACCCCCAAACGTCCTCACGCACCACATCCAGGTGAACCCACACGGCGCACAGGGCTGGTTGGAGACCCCTGTCATGGACAAGGGTACCTGCGTGCTGGAGAGCGCACAGCCAGGACCTGAGCCCATGACACGTGGAAGCCTCCAATGGAAGGTCCCCTATGCTCCCATCCAGCCAGTGCCCACCCCTCAACTGCCTGACTTCTGTGACCATAGATCAGCCTGGCATATTTGAATTTATTTATTTATTTTGAAACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTACAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGGCTCCGGATTAGCTGGGACTACAGGTGTGCACCACCATGCCCGGCTAATTTTTGTATTTTTAGTACAGATGGGGTTTCACTATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCAGCCATAGTTGAATTTCATGGTCAGTGGAACACACAGCAGGTCCTCCACTGTGCCAGCTTCTTTCACTTACTGTTTTTGACACTCACATGTACCGTCGTGGGCGCCGGTGTGTCTTTGTTGCTGAGTGCCGTCCCGTCATATGGACGTGCGTCGTGGGCGCCGGTGTGTCTTGTTGCTGAGTGCCGTCCCGTCATATGGACACCTCATGATTTGTTGGTTCATCACCATAGTTGAGCATCTGGGTTATTTCTATTTTGGGGCTGTTAT
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
GCCCTCATTGCGGAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACAGCCCTTCCCCTCCTTGCCCAGTCCCCTCCCCCTGCAAGGCACTCTCCACTCTTCTCCCCCAGGGGCCACAGGCAGACCTCCCCTCTGTCTCTCTGAACCCTCCTCTGTCTCTCCCAGACCCAGATGTTTCCTTCTGCCCTGGGGTAGTCCCAGGCCCTGCCCCAGGCAAAGTCAAACTGGGGGCTCCAGGGGCTCCCCTGCACCAAGGCCTGCAGAGTCAGGTTCTTCCTCCCGCACCACAGAGGGCGGGGCTTCCTGCCCACCCCACCCATGTCACTGCCCACCAGCGCCATCTCCCACACAGGGCCTGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCTGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGTAAGGAGGCCCCTGGCATTGGGCAGCCCTGCACCCATGGGGAAGGATGAGGGGCTCTTGCCCAGCCCCCTCAAGAGGGACACTGGCTCCTGAGAAGGAGGGGGCGGCTGCCCGGTGGTGTGGCCTCGGTGCCAGGGATTAGTCTCGGCAGGAGCCACGAAGTCACAGCTCCCGGCCTCTGATGCGGGATCTCAGGACGGCCTGTGATCTCCCAGTGGGAAGGTGCCCATCCACCGCCTCCTAAGGGGTGGGGTCCCTGCTCTCTCCCGGCCCTTTCTCCCCCGGCTCCTCTGGAACCTGAAGCTGGGGCAGATGGTGCAGGCCAAGAGCTGTCACAAAGGCCCGTACAGGGCCTCTCACCCACGCACTGAGCCAGGCCCCTCCTGCAGGCGCTCCGGCTTCTCACAGTCACCACTGTGGCTGTACCCGCTGGCTATGACTGGAGAGACATCGTCAGCTACGTCATAGACCACTTCGACATTGAGATCATGGGTGGCCTTGGGCCCTCCACGGGGAAGGTGAGAGGGAGCGCCTCGAGGGCCTTTTGCAGAAACCAAACCCGCCACCCCTCCTTGAGCAGGACTGTGCACCAGGTGCAGGGGAGGCCGGGGTCATCCGAAAGCCCAGATTGCAGGAGCGTCCAGAAGGGCCCACTCTCCAAGGGGTATCCAGTAAAGCGTATCCTGTCGCCCCTGCTCCCACCCCAGCCCACTGAGGTCACCAGGTGCAGCCTTTATGATTCCACTCGGAACATCCTTCCTTCCCTCTGACCAGACCCTGGAACCAGGCCGGAAGCCCCACGCCTGGGCCTGGCTGTGTCTCTGAGTGGCAGTGGGGAGGGACCTTCACTGCACCACCCTGTCCTCCCGTGTGGCTGCGGGTGCAGAGGGAGGAGAGCCTGCCCTGGCCTGGGTGCTCAAGGGCCCCCTCTGTGACCTGCACAGGGCTGTCAACTCCCCTCATGGACGCTGGGTGGGTGGTCCTCACTCAGGTGAGCCCATCCTGGCTCTGGCCAGCTGTCGGTCAGGGTCAGGCAGGTCCCAGGCGGGAGGCTGACGTCAGCCCGCCCTGTGCCCCCCAGGTGCTGCGGATCGGCCTGCTGGGCTGCAATGCCACCCGCGAGAATGTGGACCGCGTGACGGAGGCCCTGAGGGCGGCCCTGCAGCACTGCCCCAAGAAGAAGCTGTGACCTGCCCACTGGCACACAGCTGGCACTGGCACACACCTGTCCCATGCCCACCCTGAGGGATCAGGAGCAAACAGACCCTGCAAGGTCCTCCAGGCCTGGGGACAGGAAAGCCACTGACCCAGCCCGGGAGGCAGAACCAGGCAGCCTCCCTGGCCCCAGGCAGCCCTTTTCCCTCCAGTGGCACCTCCTGGAAACAGTCCACTTGGGCGCAAAACCCAGTGCCTTCCAAATGAGCTGCAGTCCCCAGGCCATGAGCCTCCCGGGAATGTTTAATAAAGGGCCTGGCCAACTCTCCTCACTGTGTGGGGTGGTCTGTGAAAGAGTGAGAGGAGAGCATCTCTGCTCCCTGAGCTGCCTGATTGTGGACTTTAGGGGGACACTCCTCATCCTGGAGCCCACAGGGTAGATCCTCCCCTGGAGGAGGTGCTGTCACCACACTCTAGCCCCAGATGTCACACCCCCAAACGTCCTCACGCACCACATCCAGGTGAACCCACACGGCGCACAGGGCTGGTTGGAGACCCCTGTCATGGACAAGGGTACCTGCGTGCTGGAGAGCGCACAGCCAGGACCTGAGCCCATGACACGTGGAAGCCTCCAATGGAAGGTCCCCTATGCTCCCATCCAGCCAGTGCCCACCCCTCAACTGCCTGACTTCTGTGACCATAGATCAGCCTGGCATATTTGAATTTATTTATTTATTTTGAAACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTACAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGGCTCCGGATTAGCTGGGACTACAGGTGTGCACCACCATGCCCGGCTAATTTTTGTATTTTTAGTACAGATGGGGTTTCACTATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCAGCCATAGTTGAATTTCATGGTCAGTGGAACACACAGCAGGTCCTCCACTGTGCCAGCTTCTTTCACTTACTGTTTTTGACACTCACATGTACCGTCGTGGGCGCCGGTGTGTCTTTGTTGCTGAGTGCCGTCCCGTCATATGGACGTGCGTCGTGGGCGCCGGTGTGTCTTGTTGCTGAGTGCCGTCCCGTCATATGGACACCTCATGATTTGTTGGTTCATCACCATAGTTGAGCATCTGGGTTATTTCTATTTTGGGGCTGTTATGAATACGGA
Task1_train_5856
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
AGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATGTGCCCACAGATAGGTGGGCGTGGATGTAAAGTGAGGGTTGGCAGTTCCTGCAGGCTTGTCCAGCTCCTATGGCAGGGCAAGAGCTGAGCATGAGCACTTGGGTGTGACCAGGGGTTGATTTGGCCACTGCAACATCCACACTCTCAGGACACTGCAACATCCACACTCTCAGGACACAGGCGGCTGAGAGTGGCCTCAGGCCCAGCAGCTCTGCAGGCCACGAGACAGGAAGTCCCACCTACTTTCATCTGGGTCCTGTGTCCCACAGGGCCCATTGCCAGCCACCAGTCCAGAGTCCAGGAAGGATCCCCGGGCTGCAGCCAGCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACAGCCCTTCCCCTCCTTGCCCAGTCCCCTCCCCCTGCAAGGCACTCTCCACTCTTCTCCCCCAGGGGCCACAGGCAGACCTCCCCTCTGTCTCTCTGAACCCTCCTCTGTCTCTCCCAGACCCAGATGTTTCCTTCTGCCCTGGGGTAGTCCCAGGCCCTGCCCCAGGCAAAGTCAAACTGGGGGCTCCAGGGGCTCCCCTGCACCAAGGCCTGCAGAGTCAGGTTCTTCCTCCCGCACCACAGAGGGCGGGGCTTCCTGCCCACCCCACCCATGTCACTGCCCACCAGCGCCATCTCCCACACAGGGCCTGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCTGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGTAAGGAGGCCCCTGGCATTGGGCAGCCCTGCACCCATGGGGAAGGATGAGGGGCTCTTGCCCAGCCCCCTCAAGAGGGACACTGGCTCCTGAGAAGGAGGGGGCGGCTGCCCGGTGGTGTGGCCTCGGTGCCAGGGATTAGTCTCGGCAGGAGCCACGAAGTCACAGCTCCCGGCCTCTGATGCGGGATCTCAGGACGGCCTGTGATCTCCCAGTGGGAAGGTGCCCATCCACCGCCTCCTAAGGGGTGGGGTCCCTGCTCTCTCCCGGCCCTTTCTCCCCCGGCTCCTCTGGAACCTGAAGCTGGGGCAGATGGTGCAGGCCAAGAGCTGTCACAAAGGCCCGTACAGGGCCTCTCACCCACGCACTGAGCCAGGCCCCTCCTGCAGGCGCTCCGGCTTCCCACAGTCACCACTGTGGCTGTACCCGCTGGCTATGACTGGAGAGACATCGTCAGCTACGTCATAGACCACTTCGACATTGAGATCATGAGTGGCCTTGGGCCCTCCACGGGGAAGGTGAGAGGGAGCGCCTCGAGGGCCTTTTGCAGAAACCAAACCCGCCACCCCTCCTTGAGCAGGACTGTGCACCAGGTGCAGGGGAGGCCGGGGTCATCCGAAAGCCCAGATTGCAGGAGCGTCCAGAAGGGCCCACTCTCCAAGGGGTATCCAGTAAAGCGTATCCTGTCGCCCCTGCTCCCACCCCAGCCCACTGAGGTCACCAGGTGCAGCCTTTATGATTCCACTCGGAACATCCTTCCTTCCCTCTGACCAGACCCTGGAACCAGGCCGGAAGCCCCACGCCTGGGCCTGGCTGTGTCTCTGAGTGGCAGTGGGGAGGGACCTTCACTGCACCACCCTGTCCTCCCGTGTGGCTGCGGGTGCAGAGGGAGGAGAGCCTGCCCTGGCCTGGGTGCTCAAGGGCCCCCTCTGTGACCTGCACAGGGCTGTCAACTCCCCTCATGGACGCTGGGTGGGTGGTCCTCACTCAGGTGAGCCCATCCTGGCTCTGGCCAGCTGTCGGTCAGGGTCAGGCAGGTCCCAGGCGGGAGGCTGACGTCAGCCCGCCCTGTGCCCCCCAGGTGCTGCGGATCGGCCTGCTGGGCTGCAATGCCACCCGCGAGAATGTGGACCGCGTGACGGAGGCCCTGAGGGCGGCCCTGCAGCACTGCCCCAAGAAGAAGCTGTGACCTGCCCACTGGCACACAGCTGGCACTGGCACACACCTGTCCCATGCCCACCCTGAGGGATCAGGAGCAAACAGACCCTGCAAGGTCCTCCAGGCCTGGGGACAGGAAAGCCACTGACCCAGCCCGGGAGGCAGAACCAGGCAGCCTCCCTGGCCCCAGGCAGCCCTTTTCCCTCCAGTGGCACCTCCTGGAAACAGTCCACTTGGGCGCAAAACCCAGTGCCTTCCAAATGAGCTGCAGTCCCCAGGCCATGAGCCTCCCGGGAATGTTTAATAAAGGGCCTGGCCAACTCTCCTCACTGTGTGGGGTGGTCTGTGAAAGAGTGAGAGGAGAGCATCTCTGCTCCCTGAGCTGCCTGATTGTGGACTTTAGGGGGACACTCCTCATCCTGGAGCCCACAGGGTAGATCCTCCCCTGGAGGAGGTGCTGTCACCACACTCTAGCCCCAGATGTCACACCCCCAAACGTCCTCACGCACCACATCCAGGTGAACCCACACGGCGCACAGGGCTGGTTGGAGACCCCTGTCATGGACAAGGGTACCTGCGTGCTGGAGAGCGCACAGCCAGGACCTGAGCCCATGACACGTGGAAGCCTCCAATGGAAGGTCCCCTATGCTCCCATCCAGCCAGTGCCCACCCCTCAACTGCCTGACTTCTGTGACCATAGATCAGCCTGGCATATTTGAATTTATTTATTTATTTTGAAACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTACAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGGCTCCGGATTAGCTGGGACTACAGGTGTGCACCACCATGCCCGGCTAATTTTTGTATTTTTAGTACAGATGGGGTTTCACTATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCAGCCATAGTTGAATTTCATGGTCAGTGGAACACACAGCAGGTCCTCCACTGTGCCAGCTTCTTTCACTTACTGTTTTTGACACTCACATGTACCGTCGTGGGCGCCGGTGTGTCTTTGTTGCTGAGTGCCGTCCCGTCATATGGACGTGCGTCGTGGGCGCCGGTGTGTCTTGTTGCTGAGTGCCGTCCCGTCATATGGACACCTCATGATTTGTTGGTTCATCACCATAGTTGAGCATCTGGGTTATTTCTATTTTGGGGCTGTTATGAATACGGAGGTAGTGAAATTCTTACTCAAGCCTTCGTGTGGCCATATATTTTCATTTTTCTTGGATAAATAACTAGGAGTGGAATTGCAGGGTCATA
Task1_train_5857
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?
Pathogenic; Primary hyperoxaluria, type I
GGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACAGCCCTTCCCCTCCTTGCCCAGTCCCCTCCCCCTGCAAGGCACTCTCCACTCTTCTCCCCCAGGGGCCACAGGCAGACCTCCCCTCTGTCTCTCTGAACCCTCCTCTGTCTCTCCCAGACCCAGATGTTTCCTTCTGCCCTGGGGTAGTCCCAGGCCCTGCCCCAGGCAAAGTCAAACTGGGGGCTCCAGGGGCTCCCCTGCACCAAGGCCTGCAGAGTCAGGTTCTTCCTCCCGCACCACAGAGGGCGGGGCTTCCTGCCCACCCCACCCATGTCACTGCCCACCAGCGCCATCTCCCACACAGGGCCTGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCTGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGTAAGGAGGCCCCTGGCATTGGGCAGCCCTGCACCCATGGGGAAGGATGAGGGGCTCTTGCCCAGCCCCCTCAAGAGGGACACTGGCTCCTGAGAAGGAGGGGGCGGCTGCCCGGTGGTGTGGCCTCGGTGCCAGGGATTAGTCTCGGCAGGAGCCACGAAGTCACAGCTCCCGGCCTCTGATGCGGGATCTCAGGACGGCCTGTGATCTCCCAGTGGGAAGGTGCCCATCCACCGCCTCCTAAGGGGTGGGGTCCCTGCTCTCTCCCGGCCCTTTCTCCCCCGGCTCCTCTGGAACCTGAAGCTGGGGCAGATGGTGCAGGCCAAGAGCTGTCACAAAGGCCCGTACAGGGCCTCTCACCCACGCACTGAGCCAGGCCCCTCCTGCAGGCGCTCCGGCTTCCCACAGTCACCACTGTGGCTGTACCCGCTGGCTATGACTGGAGAGACATCGTCAGCTACGTCATAGACCACTTCGACATTGAGATCATGGGTGGCCTTGGGCCCTCCACGGGGAAGGTGAGAGGGAGCGCCTCGAGGGCCTTTTGCAGAAACCAAACCCGCCACCCCTCCTTGAGCAGGACTGTGCACCAGGTGCAGGGGAGGCCGGGGTCATCCGAAAGCCCAGATTGCAGGAGCGTCCAGAAGGGCCCACTCTCCAAGGGGTATCCAGTAAAGCGTATCCTGTCGCCCCTGCTCCCACCCCAGCCCACTGAGGTCACCAGGTGCAGCCTTTATGATTCCACTCGGAACATCCTTCCTTCCCTCTGACCAGACCCTGGAACCAGGCCGGAAGCCCCACGCCTGGGCCTGGCTGTGTCTCTGAGTGGCAGTGGGGAGGGACCTTCACTGCACCACCCTGTCCTCCCGTGTGGCTGCGGGTGCAGAGGGAGGAGAGCCTGCCCTGGCCTGGGTGCTCAAGGGCCCCCTCTGTGACCTGCACAGGGCTGTCAACTCCCCTCATGGACGCTGGGTGGGTGGTCCTCACTCAGGTGAGCCCATCCTGGCTCTGGCCAGCTGTCGGTCAGGGTCAGGCAGGTCCCAGGCGGGAGGCTGACGTCAGCCCGCCCTGTGCCCCCCAGGTGCTGCGGATCGGCCTGCTGGGCTGCAATGCCACCCGCGAGAATGTGGACCGCGTGACGGAGGCCCTGAGGGCGGCCCTGCAGCACTGCCCCAAGAAGAAGCTGTGACCTGCCCACTGGCACACAGCTGGCACTGGCACACACCTGTCCCATGCCCACCCTGAGGGATCAGGAGCAAACAGACCCTGCAAGGTCCTCCAGGCCTGGGGACAGGAAAGCCACTGACCCAGCCCGGGAGGCAGAACCAGGCAGCCTCCCTGGCCCCAGGCAGCCCTTTTCCCTCCAGTGGCACCTCCTGGAAACAGTCCACTTGGGCGCAAAACCCAGTGCCTTCCAAATGAGCTGCAGTCCCCAGGCCATGAGCCTCCCGGGAATGTTTAATAAAGGGCCTGGCCAACTCTCCTCACTGTGTGGGGTGGTCTGTGAAAGAGTGAGAGGAGAGCATCTCTGCTCCCTGAGCTGCCTGATTGTGGACTTTAGGGGGACACTCCTCATCCTGGAGCCCACAGGGTAGATCCTCCCCTGGAGGAGGTGCTGTCACCACACTCTAGCCCCAGATGTCACACCCCCAAACGTCCTCACGCACCACATCCAGGTGAACCCACACGGCGCACAGGGCTGGTTGGAGACCCCTGTCATGGACAAGGGTACCTGCGTGCTGGAGAGCGCACAGCCAGGACCTGAGCCCATGACACGTGGAAGCCTCCAATGGAAGGTCCCCTATGCTCCCATCCAGCCAGTGCCCACCCCTCAACTGCCTGACTTCTGTGACCATAGATCAGCCTGGCATATTTGAATTTATTTATTTATTTTGAAACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTACAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGGCTCCGGATTAGCTGGGACTACAGGTGTGCACCACCATGCCCGGCTAATTTTTGTATTTTTAGTACAGATGGGGTTTCACTATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCAGCCATAGTTGAATTTCATGGTCAGTGGAACACACAGCAGGTCCTCCACTGTGCCAGCTTCTTTCACTTACTGTTTTTGACACTCACATGTACCGTCGTGGGCGCCGGTGTGTCTTTGTTGCTGAGTGCCGTCCCGTCATATGGACGTGCGTCGTGGGCGCCGGTGTGTCTTGTTGCTGAGTGCCGTCCCGTCATATGGACACCTCATGATTTGTTGGTTCATCACCATAGTTGAGCATCTGGGTTATTTCTATTTTGGGGCTGTTATGAATACGGAGGTAGTGAAATTCTTACTCAAGCCTTCGTGTGGCCATATATTTTCATTTTTCTTGGATAAATAACTAGGAGTGGAATTGCAGGGTCATACAATAGGCTTAACCTTATACGAGACTGCCACGAAATTCTCCGAAGTGGCTCTTCCATGTTTCATTCCCGCAGCTACAGCGTCCAGGGTGCTCCACGTCCTCACCCACACTCCATGTTGTCTTTTTTTGCTAGGGGGTGTAAAATCCTGTCTGATTTGGTTTTAGTTTGCATTTCCCTGATGCCTATTGATGTTGAGCAACTTCTCATGAGCTATCGGCCGTTTGTAGATCTTCTGAAAAGTGTCAGTTCAAATATTTTGTTCATATTTGGATTTTTATCTTCTTATTGTCAATGTGTGATCATTTTAAAATATATTCTAGATACTATCAGATACGTGTGGCATGAATATTTCCTCCCTCTCTGTGGCTTACCTGTTCATTTTCTTTTCTTTTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGAAAGAATCTCACTCCGTCCAGGCTGGAGAGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCGGCTAATTTTTGTGTTTTTTTGTAGAGACGGGGTTTTGCCATGTTGGCCAGG
GGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACAGCCCTTCCCCTCCTTGCCCAGTCCCCTCCCCCTGCAAGGCACTCTCCACTCTTCTCCCCCAGGGGCCACAGGCAGACCTCCCCTCTGTCTCTCTGAACCCTCCTCTGTCTCTCCCAGACCCAGATGTTTCCTTCTGCCCTGGGGTAGTCCCAGGCCCTGCCCCAGGCAAAGTCAAACTGGGGGCTCCAGGGGCTCCCCTGCACCAAGGCCTGCAGAGTCAGGTTCTTCCTCCCGCACCACAGAGGGCGGGGCTTCCTGCCCACCCCACCCATGTCACTGCCCACCAGCGCCATCTCCCACACAGGGCCTGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCTGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGTAAGGAGGCCCCTGGCATTGGGCAGCCCTGCACCCATGGGGAAGGATGAGGGGCTCTTGCCCAGCCCCCTCAAGAGGGACACTGGCTCCTGAGAAGGAGGGGGCGGCTGCCCGGTGGTGTGGCCTCGGTGCCAGGGATTAGTCTCGGCAGGAGCCACGAAGTCACAGCTCCCGGCCTCTGATGCGGGATCTCAGGACGGCCTGTGATCTCCCAGTGGGAAGGTGCCCATCCACCGCCTCCTAAGGGGTGGGGTCCCTGCTCTCTCCCGGCCCTTTCTCCCCCGGCTCCTCTGGAACCTGAAGCTGGGGCAGATGGTGCAGGCCAAGAGCTGTCACAAAGGCCCGTACAGGGCCTCTCACCCACGCACTGAGCCAGGCCCCTCCTGCAGGCGCTCCGGCTTCCCACAGTCACCACTGTGGCTGTACCCGCTGGCTATGACTGGAGAGACATCGTCAGCTACGTCATAGACCACTTCGACATTGAGATCATGGGTGGCCTTGGGCCCTCCACGGGGAAGGTGAGAGGGAGCGCCTCGAGGGCCTTTTGCAGAAACCAAACCCGCCACCCCTCCTTGAGCAGGACTGTGCACCAGGTGCAGGGGAGGCCGGGGTCATCCGAAAGCCCAGATTGCAGGAGCGTCCAGAAGGGCCCACTCTCCAAGGGGTATCCAGTAAAGCGTATCCTGTCGCCCCTGCTCCCACCCCAGCCCACTGAGGTCACCAGGTGCAGCCTTTATGATTCCACTCGGAACATCCTTCCTTCCCTCTGACCAGACCCTGGAACCAGGCCGGAAGCCCCACGCCTGGGCCTGGCTGTGTCTCTGAGTGGCAGTGGGGAGGGACCTTCACTGCACCACCCTGTCCTCCCGTGTGGCTGCGGGTGCAGAGGGAGGAGAGCCTGCCCTGGCCTGGGTGCTCAAGGGCCCCCTCTGTGACCTGCACAGGGCTGTCAACTCCCCTCATGGACGCTGGGTGGGTGGTCCTCACTCAGGTGAGCCCATCCTGGCTCTGGCCAGCTGTCGGTCAGGGTCAGGCAGGTCCCAGGCGGGAGGCTGACGTCAGCCCGCCCTGTGCCCCCCAGGTGCTGCGGATCGGCCTGCTGGGCTGCAATACCACCCGCGAGAATGTGGACCGCGTGACGGAGGCCCTGAGGGCGGCCCTGCAGCACTGCCCCAAGAAGAAGCTGTGACCTGCCCACTGGCACACAGCTGGCACTGGCACACACCTGTCCCATGCCCACCCTGAGGGATCAGGAGCAAACAGACCCTGCAAGGTCCTCCAGGCCTGGGGACAGGAAAGCCACTGACCCAGCCCGGGAGGCAGAACCAGGCAGCCTCCCTGGCCCCAGGCAGCCCTTTTCCCTCCAGTGGCACCTCCTGGAAACAGTCCACTTGGGCGCAAAACCCAGTGCCTTCCAAATGAGCTGCAGTCCCCAGGCCATGAGCCTCCCGGGAATGTTTAATAAAGGGCCTGGCCAACTCTCCTCACTGTGTGGGGTGGTCTGTGAAAGAGTGAGAGGAGAGCATCTCTGCTCCCTGAGCTGCCTGATTGTGGACTTTAGGGGGACACTCCTCATCCTGGAGCCCACAGGGTAGATCCTCCCCTGGAGGAGGTGCTGTCACCACACTCTAGCCCCAGATGTCACACCCCCAAACGTCCTCACGCACCACATCCAGGTGAACCCACACGGCGCACAGGGCTGGTTGGAGACCCCTGTCATGGACAAGGGTACCTGCGTGCTGGAGAGCGCACAGCCAGGACCTGAGCCCATGACACGTGGAAGCCTCCAATGGAAGGTCCCCTATGCTCCCATCCAGCCAGTGCCCACCCCTCAACTGCCTGACTTCTGTGACCATAGATCAGCCTGGCATATTTGAATTTATTTATTTATTTTGAAACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTACAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGGCTCCGGATTAGCTGGGACTACAGGTGTGCACCACCATGCCCGGCTAATTTTTGTATTTTTAGTACAGATGGGGTTTCACTATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCAGCCATAGTTGAATTTCATGGTCAGTGGAACACACAGCAGGTCCTCCACTGTGCCAGCTTCTTTCACTTACTGTTTTTGACACTCACATGTACCGTCGTGGGCGCCGGTGTGTCTTTGTTGCTGAGTGCCGTCCCGTCATATGGACGTGCGTCGTGGGCGCCGGTGTGTCTTGTTGCTGAGTGCCGTCCCGTCATATGGACACCTCATGATTTGTTGGTTCATCACCATAGTTGAGCATCTGGGTTATTTCTATTTTGGGGCTGTTATGAATACGGAGGTAGTGAAATTCTTACTCAAGCCTTCGTGTGGCCATATATTTTCATTTTTCTTGGATAAATAACTAGGAGTGGAATTGCAGGGTCATACAATAGGCTTAACCTTATACGAGACTGCCACGAAATTCTCCGAAGTGGCTCTTCCATGTTTCATTCCCGCAGCTACAGCGTCCAGGGTGCTCCACGTCCTCACCCACACTCCATGTTGTCTTTTTTTGCTAGGGGGTGTAAAATCCTGTCTGATTTGGTTTTAGTTTGCATTTCCCTGATGCCTATTGATGTTGAGCAACTTCTCATGAGCTATCGGCCGTTTGTAGATCTTCTGAAAAGTGTCAGTTCAAATATTTTGTTCATATTTGGATTTTTATCTTCTTATTGTCAATGTGTGATCATTTTAAAATATATTCTAGATACTATCAGATACGTGTGGCATGAATATTTCCTCCCTCTCTGTGGCTTACCTGTTCATTTTCTTTTCTTTTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGAAAGAATCTCACTCCGTCCAGGCTGGAGAGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCGGCTAATTTTTGTGTTTTTTTGTAGAGACGGGGTTTTGCCATGTTGGCCAGG
Task1_train_5858
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.
Pathogenic; Primary hyperoxaluria, type I
GCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACAGCCCTTCCCCTCCTTGCCCAGTCCCCTCCCCCTGCAAGGCACTCTCCACTCTTCTCCCCCAGGGGCCACAGGCAGACCTCCCCTCTGTCTCTCTGAACCCTCCTCTGTCTCTCCCAGACCCAGATGTTTCCTTCTGCCCTGGGGTAGTCCCAGGCCCTGCCCCAGGCAAAGTCAAACTGGGGGCTCCAGGGGCTCCCCTGCACCAAGGCCTGCAGAGTCAGGTTCTTCCTCCCGCACCACAGAGGGCGGGGCTTCCTGCCCACCCCACCCATGTCACTGCCCACCAGCGCCATCTCCCACACAGGGCCTGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCTGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGTAAGGAGGCCCCTGGCATTGGGCAGCCCTGCACCCATGGGGAAGGATGAGGGGCTCTTGCCCAGCCCCCTCAAGAGGGACACTGGCTCCTGAGAAGGAGGGGGCGGCTGCCCGGTGGTGTGGCCTCGGTGCCAGGGATTAGTCTCGGCAGGAGCCACGAAGTCACAGCTCCCGGCCTCTGATGCGGGATCTCAGGACGGCCTGTGATCTCCCAGTGGGAAGGTGCCCATCCACCGCCTCCTAAGGGGTGGGGTCCCTGCTCTCTCCCGGCCCTTTCTCCCCCGGCTCCTCTGGAACCTGAAGCTGGGGCAGATGGTGCAGGCCAAGAGCTGTCACAAAGGCCCGTACAGGGCCTCTCACCCACGCACTGAGCCAGGCCCCTCCTGCAGGCGCTCCGGCTTCCCACAGTCACCACTGTGGCTGTACCCGCTGGCTATGACTGGAGAGACATCGTCAGCTACGTCATAGACCACTTCGACATTGAGATCATGGGTGGCCTTGGGCCCTCCACGGGGAAGGTGAGAGGGAGCGCCTCGAGGGCCTTTTGCAGAAACCAAACCCGCCACCCCTCCTTGAGCAGGACTGTGCACCAGGTGCAGGGGAGGCCGGGGTCATCCGAAAGCCCAGATTGCAGGAGCGTCCAGAAGGGCCCACTCTCCAAGGGGTATCCAGTAAAGCGTATCCTGTCGCCCCTGCTCCCACCCCAGCCCACTGAGGTCACCAGGTGCAGCCTTTATGATTCCACTCGGAACATCCTTCCTTCCCTCTGACCAGACCCTGGAACCAGGCCGGAAGCCCCACGCCTGGGCCTGGCTGTGTCTCTGAGTGGCAGTGGGGAGGGACCTTCACTGCACCACCCTGTCCTCCCGTGTGGCTGCGGGTGCAGAGGGAGGAGAGCCTGCCCTGGCCTGGGTGCTCAAGGGCCCCCTCTGTGACCTGCACAGGGCTGTCAACTCCCCTCATGGACGCTGGGTGGGTGGTCCTCACTCAGGTGAGCCCATCCTGGCTCTGGCCAGCTGTCGGTCAGGGTCAGGCAGGTCCCAGGCGGGAGGCTGACGTCAGCCCGCCCTGTGCCCCCCAGGTGCTGCGGATCGGCCTGCTGGGCTGCAATGCCACCCGCGAGAATGTGGACCGCGTGACGGAGGCCCTGAGGGCGGCCCTGCAGCACTGCCCCAAGAAGAAGCTGTGACCTGCCCACTGGCACACAGCTGGCACTGGCACACACCTGTCCCATGCCCACCCTGAGGGATCAGGAGCAAACAGACCCTGCAAGGTCCTCCAGGCCTGGGGACAGGAAAGCCACTGACCCAGCCCGGGAGGCAGAACCAGGCAGCCTCCCTGGCCCCAGGCAGCCCTTTTCCCTCCAGTGGCACCTCCTGGAAACAGTCCACTTGGGCGCAAAACCCAGTGCCTTCCAAATGAGCTGCAGTCCCCAGGCCATGAGCCTCCCGGGAATGTTTAATAAAGGGCCTGGCCAACTCTCCTCACTGTGTGGGGTGGTCTGTGAAAGAGTGAGAGGAGAGCATCTCTGCTCCCTGAGCTGCCTGATTGTGGACTTTAGGGGGACACTCCTCATCCTGGAGCCCACAGGGTAGATCCTCCCCTGGAGGAGGTGCTGTCACCACACTCTAGCCCCAGATGTCACACCCCCAAACGTCCTCACGCACCACATCCAGGTGAACCCACACGGCGCACAGGGCTGGTTGGAGACCCCTGTCATGGACAAGGGTACCTGCGTGCTGGAGAGCGCACAGCCAGGACCTGAGCCCATGACACGTGGAAGCCTCCAATGGAAGGTCCCCTATGCTCCCATCCAGCCAGTGCCCACCCCTCAACTGCCTGACTTCTGTGACCATAGATCAGCCTGGCATATTTGAATTTATTTATTTATTTTGAAACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTACAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGGCTCCGGATTAGCTGGGACTACAGGTGTGCACCACCATGCCCGGCTAATTTTTGTATTTTTAGTACAGATGGGGTTTCACTATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCAGCCATAGTTGAATTTCATGGTCAGTGGAACACACAGCAGGTCCTCCACTGTGCCAGCTTCTTTCACTTACTGTTTTTGACACTCACATGTACCGTCGTGGGCGCCGGTGTGTCTTTGTTGCTGAGTGCCGTCCCGTCATATGGACGTGCGTCGTGGGCGCCGGTGTGTCTTGTTGCTGAGTGCCGTCCCGTCATATGGACACCTCATGATTTGTTGGTTCATCACCATAGTTGAGCATCTGGGTTATTTCTATTTTGGGGCTGTTATGAATACGGAGGTAGTGAAATTCTTACTCAAGCCTTCGTGTGGCCATATATTTTCATTTTTCTTGGATAAATAACTAGGAGTGGAATTGCAGGGTCATACAATAGGCTTAACCTTATACGAGACTGCCACGAAATTCTCCGAAGTGGCTCTTCCATGTTTCATTCCCGCAGCTACAGCGTCCAGGGTGCTCCACGTCCTCACCCACACTCCATGTTGTCTTTTTTTGCTAGGGGGTGTAAAATCCTGTCTGATTTGGTTTTAGTTTGCATTTCCCTGATGCCTATTGATGTTGAGCAACTTCTCATGAGCTATCGGCCGTTTGTAGATCTTCTGAAAAGTGTCAGTTCAAATATTTTGTTCATATTTGGATTTTTATCTTCTTATTGTCAATGTGTGATCATTTTAAAATATATTCTAGATACTATCAGATACGTGTGGCATGAATATTTCCTCCCTCTCTGTGGCTTACCTGTTCATTTTCTTTTCTTTTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGAAAGAATCTCACTCCGTCCAGGCTGGAGAGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCGGCTAATTTTTGTGTTTTTTTGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAATTCCTGACCTCAAGTGATCCACCCACCTCAGCCTC
GCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACAGCCCTTCCCCTCCTTGCCCAGTCCCCTCCCCCTGCAAGGCACTCTCCACTCTTCTCCCCCAGGGGCCACAGGCAGACCTCCCCTCTGTCTCTCTGAACCCTCCTCTGTCTCTCCCAGACCCAGATGTTTCCTTCTGCCCTGGGGTAGTCCCAGGCCCTGCCCCAGGCAAAGTCAAACTGGGGGCTCCAGGGGCTCCCCTGCACCAAGGCCTGCAGAGTCAGGTTCTTCCTCCCGCACCACAGAGGGCGGGGCTTCCTGCCCACCCCACCCATGTCACTGCCCACCAGCGCCATCTCCCACACAGGGCCTGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCTGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGTAAGGAGGCCCCTGGCATTGGGCAGCCCTGCACCCATGGGGAAGGATGAGGGGCTCTTGCCCAGCCCCCTCAAGAGGGACACTGGCTCCTGAGAAGGAGGGGGCGGCTGCCCGGTGGTGTGGCCTCGGTGCCAGGGATTAGTCTCGGCAGGAGCCACGAAGTCACAGCTCCCGGCCTCTGATGCGGGATCTCAGGACGGCCTGTGATCTCCCAGTGGGAAGGTGCCCATCCACCGCCTCCTAAGGGGTGGGGTCCCTGCTCTCTCCCGGCCCTTTCTCCCCCGGCTCCTCTGGAACCTGAAGCTGGGGCAGATGGTGCAGGCCAAGAGCTGTCACAAAGGCCCGTACAGGGCCTCTCACCCACGCACTGAGCCAGGCCCCTCCTGCAGGCGCTCCGGCTTCCCACAGTCACCACTGTGGCTGTACCCGCTGGCTATGACTGGAGAGACATCGTCAGCTACGTCATAGACCACTTCGACATTGAGATCATGGGTGGCCTTGGGCCCTCCACGGGGAAGGTGAGAGGGAGCGCCTCGAGGGCCTTTTGCAGAAACCAAACCCGCCACCCCTCCTTGAGCAGGACTGTGCACCAGGTGCAGGGGAGGCCGGGGTCATCCGAAAGCCCAGATTGCAGGAGCGTCCAGAAGGGCCCACTCTCCAAGGGGTATCCAGTAAAGCGTATCCTGTCGCCCCTGCTCCCACCCCAGCCCACTGAGGTCACCAGGTGCAGCCTTTATGATTCCACTCGGAACATCCTTCCTTCCCTCTGACCAGACCCTGGAACCAGGCCGGAAGCCCCACGCCTGGGCCTGGCTGTGTCTCTGAGTGGCAGTGGGGAGGGACCTTCACTGCACCACCCTGTCCTCCCGTGTGGCTGCGGGTGCAGAGGGAGGAGAGCCTGCCCTGGCCTGGGTGCTCAAGGGCCCCCTCTGTGACCTGCACAGGGCTGTCAACTCCCCTCATGGACGCTGGGTGGGTGGTCCTCACTCAGGTGAGCCCATCCTGGCTCTGGCCAGCTGTCGGTCAGGGTCAGGCAGGTCCCAGGCGGGAGGCTGACGTCAGCCCGCCCTGTGCCCCCCAGGTGCTGCGGATCGGCCTGCTGGGCTGCAATGCCACCCGCGAGAATGTGGACCGCGTGACGGAGGCCCTGAGGGCGGACCTGCAGCACTGCCCCAAGAAGAAGCTGTGACCTGCCCACTGGCACACAGCTGGCACTGGCACACACCTGTCCCATGCCCACCCTGAGGGATCAGGAGCAAACAGACCCTGCAAGGTCCTCCAGGCCTGGGGACAGGAAAGCCACTGACCCAGCCCGGGAGGCAGAACCAGGCAGCCTCCCTGGCCCCAGGCAGCCCTTTTCCCTCCAGTGGCACCTCCTGGAAACAGTCCACTTGGGCGCAAAACCCAGTGCCTTCCAAATGAGCTGCAGTCCCCAGGCCATGAGCCTCCCGGGAATGTTTAATAAAGGGCCTGGCCAACTCTCCTCACTGTGTGGGGTGGTCTGTGAAAGAGTGAGAGGAGAGCATCTCTGCTCCCTGAGCTGCCTGATTGTGGACTTTAGGGGGACACTCCTCATCCTGGAGCCCACAGGGTAGATCCTCCCCTGGAGGAGGTGCTGTCACCACACTCTAGCCCCAGATGTCACACCCCCAAACGTCCTCACGCACCACATCCAGGTGAACCCACACGGCGCACAGGGCTGGTTGGAGACCCCTGTCATGGACAAGGGTACCTGCGTGCTGGAGAGCGCACAGCCAGGACCTGAGCCCATGACACGTGGAAGCCTCCAATGGAAGGTCCCCTATGCTCCCATCCAGCCAGTGCCCACCCCTCAACTGCCTGACTTCTGTGACCATAGATCAGCCTGGCATATTTGAATTTATTTATTTATTTTGAAACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTACAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGGCTCCGGATTAGCTGGGACTACAGGTGTGCACCACCATGCCCGGCTAATTTTTGTATTTTTAGTACAGATGGGGTTTCACTATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCAGCCATAGTTGAATTTCATGGTCAGTGGAACACACAGCAGGTCCTCCACTGTGCCAGCTTCTTTCACTTACTGTTTTTGACACTCACATGTACCGTCGTGGGCGCCGGTGTGTCTTTGTTGCTGAGTGCCGTCCCGTCATATGGACGTGCGTCGTGGGCGCCGGTGTGTCTTGTTGCTGAGTGCCGTCCCGTCATATGGACACCTCATGATTTGTTGGTTCATCACCATAGTTGAGCATCTGGGTTATTTCTATTTTGGGGCTGTTATGAATACGGAGGTAGTGAAATTCTTACTCAAGCCTTCGTGTGGCCATATATTTTCATTTTTCTTGGATAAATAACTAGGAGTGGAATTGCAGGGTCATACAATAGGCTTAACCTTATACGAGACTGCCACGAAATTCTCCGAAGTGGCTCTTCCATGTTTCATTCCCGCAGCTACAGCGTCCAGGGTGCTCCACGTCCTCACCCACACTCCATGTTGTCTTTTTTTGCTAGGGGGTGTAAAATCCTGTCTGATTTGGTTTTAGTTTGCATTTCCCTGATGCCTATTGATGTTGAGCAACTTCTCATGAGCTATCGGCCGTTTGTAGATCTTCTGAAAAGTGTCAGTTCAAATATTTTGTTCATATTTGGATTTTTATCTTCTTATTGTCAATGTGTGATCATTTTAAAATATATTCTAGATACTATCAGATACGTGTGGCATGAATATTTCCTCCCTCTCTGTGGCTTACCTGTTCATTTTCTTTTCTTTTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGAAAGAATCTCACTCCGTCCAGGCTGGAGAGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCGGCTAATTTTTGTGTTTTTTTGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAATTCCTGACCTCAAGTGATCCACCCACCTCAGCCTC
Task1_train_5859
The following genetic variant occurs in DTYMK (deoxythymidylate kinase) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Neurodegeneration, childhood-onset, with progressive microcephaly
ACACTGTGGTGACCTCCGGGATACCCCACACCTTTCTCTGAACCTCAACCTTGACAAGTGTCTACGGTAGTCACCCGGCATTCCTGCCACAGCCCTGATGCAGGAGAAACATGATGTGCCAACTGCCCACTCCTGCTTTAAGCCGACCTCAGCCTCGTGACCCCAACCCCGCTGAGTGCCCACTTGCAGGAGTGAGGCACAGCCCACAGCACAGCCAGACCCACCCAGCCCACCAGGTCGAGGTGACTGTCCCTCCAGCTCGCAAGCGGCGAGTCGGAAGCACAGAGGGCAGACCCTGCCCTGCCCACGCTCCTGTGGCTCCTGGGCCCTGCCTGGAAGGTGAGGAAGTTCCGCAGCAGAAGCCAGACAGCAGGACCAGTGCAACACTGGGCCTGACTCGTCCTTGCGGGGAAGATGAATTTGGTCCTAACAGCTGTGCTGCACAATGGCGTGAACGGTGCGAGGAGCGTGGGGAGGGCATAAGCCCGCAGGACAGCCTTCTCTCCACCAGAAGGCAGGCAGTGAGAGGGACTCAGAAGCGCTGGCATCTCAGCGGCATCCCGGCTTCTGCTGTCGGGTGGCACCGGACCCTTCTCAAGCTTCTGGGACAGCAAATTCTAGAAAATCTGCCAGGGGCGTAGAAGGCACTTGGAAGAATCTAACCATTTCATGAGGTGTGACCGTGACGGAAGGAGAGTGACTCCCTACACAAGGGCCACCTTCCCAGATGCCTCTCACTGGCCACTGTGCAGCCACACAGCTGTCGCCCAGAACCGCCCAAGATGAGCCTCTCCGGGCGGAATGACTGCCAGAGAGAATGCCGCACTGCCAGAAAAGGGCACTGCTATCCCACCTGCGTTCCGGGAAACGAAAAGCTGCGTGACCAGCATCATCTGCAGGCACAGCCAGTCGGGCTGGGGCGAGACCCTCGGCCCTGCTCTGGAGGAGGAGCTCAAGGGACTGAAGCTCCGCGGGCCGTGGCCACAAGCGACAGTGCTGGCGCCCGACGTGCCAGAAGCCCTGGCTGCCGCCTGGAAAGAGGCCACGTGGGCAGCGGTGGGCACGGGCGACTGGAGTCTGGGAGAGAGGTAGGGGCTGCGGTCGGGAGGAGCAGAGGCGGCCAGCCTGCGAGTCCACTGGGAGGGGAGAGTCCAGCGTCCTGGGAGCAGAGCCAGACCTGGGACTGCTGAGATTGAAGGAGGCAGGACTGAAGGGAGAGGCAGCACACAGCACCCTCCTGAACTTAGATGGCCAGGTGCTGCTGCAGGGCCCATGCCCAGCGAGAGGCCGCACCAGAGGACACAGTGGCAGGAACAGGCTGGCGCTCGTGTCTGAAGAGGGGCTGAGGATGTGGAGGATTGCGCAGACTCTCACCTGACCCACCAGACAAAGCGCCAAATGTCAACATTTAGCAAAACTCATCGGGTTAGAATTTGCTGGCACTGGCCGGGCGCGATGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTGGAGACCAGCCTGACCAACGTGGAGAAACCCCATCTCTACAAAAAAAATTAGCCAGGCATGATGGCACGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAAGAAGCGGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTTGGCACCCAGAGCAAGATTCTGTCTCAAAAAAAAAAGAATTTGCTGGCACCGAGAACCCCTGAACGACTACTCCCGGGGCTCCACATCTGGGAGGACCAGACGGAAACGGCAGCAGCTTTGCTGACACAACTGTGCCAGCCACCACGGTGTCATCCTGAGCCACTTCTCCACGCTTCCTAGTGTGCAATTCTGGGATTCTCACCTTCCAGTTCAAAGTCGTGTCTTTCATGAGCTGGTGGAAACACCGGAGCGCCCGCTCCTGGAAAGCCCCGTTCTCATAGCGCTCATGGCCAAACGCTCCCCGCTTGGCAGCATCCGCCAGCTGTAACTGGAGGAACAGGACCAGGTCGGGTTTGGGAAGGCCCACGTCTGGCTGTTTACACCAATCTAGGGAAAAATTCTGCCAAGAAAGAACCCAACAGTTAAAGCTTAGTGTAGTCTAGGTTTTTGTTTCGAAAGTCGTAAAAACAGGAAAAAATGAGGGGACATTTGGTGAGGTACCAAGATGTGAGACTGTTTATATTGTGGCTCGTTTAATTTTTAGAACCTCAAACGTGTCGGTTTCTCCAGTGTCACCTTTGTTTTTCCTTTGTAAACAGACAAGTGGACAGAAAAGTAGGTAGATAGAACGGCTGCCAGTCCCCGCCACCCACAGCCCAGGCCCCATGGAGGCCCTCCCAGCACAGCTACAGGCCTGCTGGCCAGGAGCAAACAGTCTATGTACAGAACCCCTGGAGACCCCCGGCCTAGAACGCCTGCAGCACAGAGCAGCTGGGTCCGGACACAGGCACGAGGTCCTTGGCAGTGTCTTTTCTGCCACACACACGCCAGGGTCTCCTCTCCCGTGGAAGAGCAGGAAGAAGACAGGCACTCCTAGAGCCTGTTATGTGCCAGCCTAGTCTCATCCACTGGCCCTTCTTGCCAGGGCTGTGCCAGCACCCTCTCTCCCTCCCTTACTCATCCCATCTCCCTCCAAATGCTGTCCTGTTTCCGGAGGAAAGGTAGGACCAGAAAGGCTGTGACTGCAGGCCACACATCACACAACAGCACAATGAGCTGAGGGAAGGCGTCCACGAGAACCTCCCACAGAGCCTGCGGCTCTGTCAGCTGATCCGCACAGCAGGAAGAAGCAAAGGAATCATGAGTCTTGTCCTCCTTATTATACAACGTAATACTTCAGAGGGGAAGGACTCAAGCTAACACATGAAGAAATGGCAGAATTAAAAAGTGAGGGCGTGGCCGGGCACGGTGGCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCGGGAGGATCACTTGGGCCCAAGAGTTGTTATAGCGAGCTTTGCTTGTTCCACTGTACTCCAGCCTGGGCAACAGAGGGAGACGCCCTCTTTCAAAAAACGGGGGAAAAAAGTACTACAAATGAACCATCTTTGAAAATGCATCTGGAGGCTGGGTGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGATGAGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAGTATGAAAATTAGCTGGGCACGGTGGTGCATGCCTATAATCCCAGATACTCGGGAGACTGAGGCAGGATAATCGCTTGAACTCAGGAGGCAGAGGTTGCAATGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAATGAGAGACTGTCTCCCCAAAAAAAAAAAAAAAAGCGTGTGGAAAATATAATCCAAATACCAACTATGGTTCTATCTGTGAAACAATCTCTAGCTACATAAATGTTTGCTCTTCTTATTGATAAAACCAAATTAATCTAGCAAAGAGATAAAAGGAATATAAGAATCACGAAACTCTGCAGAGTAATCTGAGGCATGTCACTCGTACTCGCATTCAAGGGCAGTCCTGGGTCCACACATCTGTGCTCGCCTGACAGGAGGCCAAGTGGCACTCACCTCCTTGGCACCGGTGAAGGCCACACCAGAAAATGCGTATCTGTCCACGACGAGGGTCACGCCCTGGCTCAACTTTTCCTTAATTAACGGCCTGAAAAAGAGGATGCTCCTGAGCCCTGGTCCTGTTTCATAGGCCTTGAACTGTCAAGCTTAAATTATCCCAACAGGCTGTGCGCAGTGGCTCACCCCTATAATCCCAGCGCTTTGGGAGGCTGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAATACAAAATATTAGCTGGACATGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCATTCCAGC
ACACTGTGGTGACCTCCGGGATACCCCACACCTTTCTCTGAACCTCAACCTTGACAAGTGTCTACGGTAGTCACCCGGCATTCCTGCCACAGCCCTGATGCAGGAGAAACATGATGTGCCAACTGCCCACTCCTGCTTTAAGCCGACCTCAGCCTCGTGACCCCAACCCCGCTGAGTGCCCACTTGCAGGAGTGAGGCACAGCCCACAGCACAGCCAGACCCACCCAGCCCACCAGGTCGAGGTGACTGTCCCTCCAGCTCGCAAGCGGCGAGTCGGAAGCACAGAGGGCAGACCCTGCCCTGCCCACGCTCCTGTGGCTCCTGGGCCCTGCCTGGAAGGTGAGGAAGTTCCGCAGCAGAAGCCAGACAGCAGGACCAGTGCAACACTGGGCCTGACTCGTCCTTGCGGGGAAGATGAATTTGGTCCTAACAGCTGTGCTGCACAATGGCGTGAACGGTGCGAGGAGCGTGGGGAGGGCATAAGCCCGCAGGACAGCCTTCTCTCCACCAGAAGGCAGGCAGTGAGAGGGACTCAGAAGCGCTGGCATCTCAGCGGCATCCCGGCTTCTGCTGTCGGGTGGCACCGGACCCTTCTCAAGCTTCTGGGACAGCAAATTCTAGAAAATCTGCCAGGGGCGTAGAAGGCACTTGGAAGAATCTAACCATTTCATGAGGTGTGACCGTGACGGAAGGAGAGTGACTCCCTACACAAGGGCCACCTTCCCAGATGCCTCTCACTGGCCACTGTGCAGCCACACAGCTGTCGCCCAGAACCGCCCAAGATGAGCCTCTCCGGGCGGAATGACTGCCAGAGAGAATGCCGCACTGCCAGAAAAGGGCACTGCTATCCCACCTGCGTTCCGGGAAACGAAAAGCTGCGTGACCAGCATCATCTGCAGGCACAGCCAGTCGGGCTGGGGCGAGACCCTCGGCCCTGCTCTGGAGGAGGAGCTCAAGGGACTGAAGCTCCGCGGGCCGTGGCCACAAGCGACAGTGCTGGCGCCCGACGTGCCAGAAGCCCTGGCTGCCGCCTGGAAAGAGGCCACGTGGGCAGCGGTGGGCACGGGCGACTGGAGTCTGGGAGAGAGGTAGGGGCTGCGGTCGGGAGGAGCAGAGGCGGCCAGCCTGCGAGTCCACTGGGAGGGGAGAGTCCAGCGTCCTGGGAGCAGAGCCAGACCTGGGACTGCTGAGATTGAAGGAGGCAGGACTGAAGGGAGAGGCAGCACACAGCACCCTCCTGAACTTAGATGGCCAGGTGCTGCTGCAGGGCCCATGCCCAGCGAGAGGCCGCACCAGAGGACACAGTGGCAGGAACAGGCTGGCGCTCGTGTCTGAAGAGGGGCTGAGGATGTGGAGGATTGCGCAGACTCTCACCTGACCCACCAGACAAAGCGCCAAATGTCAACATTTAGCAAAACTCATCGGGTTAGAATTTGCTGGCACTGGCCGGGCGCGATGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTGGAGACCAGCCTGACCAACGTGGAGAAACCCCATCTCTACAAAAAAAATTAGCCAGGCATGATGGCACGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAAGAAGCGGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTTGGCACCCAGAGCAAGATTCTGTCTCAAAAAAAAAAGAATTTGCTGGCACCGAGAACCCCTGAACGACTACTCCCGGGGCTCCACATCTGGGAGGACCAGACGGAAACGGCAGCAGCTTTGCTGACACAACTGTGCCAGCCACCACGGTGTCATCCTGAGCCACTTCTCCACGCTTCCTAGTGTGCAATTCTGGGATTCTCACCTTCCAGTTCAAAGTCGTGTCTTTCATGAGCTGGTGGAAACACCGGAGCGCCCGCTCCTGGAAAGCCCCGTTCTCATAGCGCTCATGGCCAAACGCTCCCCGCTTGGCAGCATCCGCCAGCTGTAACTGGAGGAACAGGACCAGGTTGGGTTTGGGAAGGCCCACGTCTGGCTGTTTACACCAATCTAGGGAAAAATTCTGCCAAGAAAGAACCCAACAGTTAAAGCTTAGTGTAGTCTAGGTTTTTGTTTCGAAAGTCGTAAAAACAGGAAAAAATGAGGGGACATTTGGTGAGGTACCAAGATGTGAGACTGTTTATATTGTGGCTCGTTTAATTTTTAGAACCTCAAACGTGTCGGTTTCTCCAGTGTCACCTTTGTTTTTCCTTTGTAAACAGACAAGTGGACAGAAAAGTAGGTAGATAGAACGGCTGCCAGTCCCCGCCACCCACAGCCCAGGCCCCATGGAGGCCCTCCCAGCACAGCTACAGGCCTGCTGGCCAGGAGCAAACAGTCTATGTACAGAACCCCTGGAGACCCCCGGCCTAGAACGCCTGCAGCACAGAGCAGCTGGGTCCGGACACAGGCACGAGGTCCTTGGCAGTGTCTTTTCTGCCACACACACGCCAGGGTCTCCTCTCCCGTGGAAGAGCAGGAAGAAGACAGGCACTCCTAGAGCCTGTTATGTGCCAGCCTAGTCTCATCCACTGGCCCTTCTTGCCAGGGCTGTGCCAGCACCCTCTCTCCCTCCCTTACTCATCCCATCTCCCTCCAAATGCTGTCCTGTTTCCGGAGGAAAGGTAGGACCAGAAAGGCTGTGACTGCAGGCCACACATCACACAACAGCACAATGAGCTGAGGGAAGGCGTCCACGAGAACCTCCCACAGAGCCTGCGGCTCTGTCAGCTGATCCGCACAGCAGGAAGAAGCAAAGGAATCATGAGTCTTGTCCTCCTTATTATACAACGTAATACTTCAGAGGGGAAGGACTCAAGCTAACACATGAAGAAATGGCAGAATTAAAAAGTGAGGGCGTGGCCGGGCACGGTGGCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCGGGAGGATCACTTGGGCCCAAGAGTTGTTATAGCGAGCTTTGCTTGTTCCACTGTACTCCAGCCTGGGCAACAGAGGGAGACGCCCTCTTTCAAAAAACGGGGGAAAAAAGTACTACAAATGAACCATCTTTGAAAATGCATCTGGAGGCTGGGTGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGATGAGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAGTATGAAAATTAGCTGGGCACGGTGGTGCATGCCTATAATCCCAGATACTCGGGAGACTGAGGCAGGATAATCGCTTGAACTCAGGAGGCAGAGGTTGCAATGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAATGAGAGACTGTCTCCCCAAAAAAAAAAAAAAAAGCGTGTGGAAAATATAATCCAAATACCAACTATGGTTCTATCTGTGAAACAATCTCTAGCTACATAAATGTTTGCTCTTCTTATTGATAAAACCAAATTAATCTAGCAAAGAGATAAAAGGAATATAAGAATCACGAAACTCTGCAGAGTAATCTGAGGCATGTCACTCGTACTCGCATTCAAGGGCAGTCCTGGGTCCACACATCTGTGCTCGCCTGACAGGAGGCCAAGTGGCACTCACCTCCTTGGCACCGGTGAAGGCCACACCAGAAAATGCGTATCTGTCCACGACGAGGGTCACGCCCTGGCTCAACTTTTCCTTAATTAACGGCCTGAAAAAGAGGATGCTCCTGAGCCCTGGTCCTGTTTCATAGGCCTTGAACTGTCAAGCTTAAATTATCCCAACAGGCTGTGCGCAGTGGCTCACCCCTATAATCCCAGCGCTTTGGGAGGCTGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAATACAAAATATTAGCTGGACATGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCATTCCAGC
Task1_train_5860
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.
Pathogenic; Neurodegeneration, childhood-onset, with progressive microcephaly
GCTGAGATCGTGCCATTGCACTCCAGCCTGGGTTGGCACCCAGAGCAAGATTCTGTCTCAAAAAAAAAAGAATTTGCTGGCACCGAGAACCCCTGAACGACTACTCCCGGGGCTCCACATCTGGGAGGACCAGACGGAAACGGCAGCAGCTTTGCTGACACAACTGTGCCAGCCACCACGGTGTCATCCTGAGCCACTTCTCCACGCTTCCTAGTGTGCAATTCTGGGATTCTCACCTTCCAGTTCAAAGTCGTGTCTTTCATGAGCTGGTGGAAACACCGGAGCGCCCGCTCCTGGAAAGCCCCGTTCTCATAGCGCTCATGGCCAAACGCTCCCCGCTTGGCAGCATCCGCCAGCTGTAACTGGAGGAACAGGACCAGGTCGGGTTTGGGAAGGCCCACGTCTGGCTGTTTACACCAATCTAGGGAAAAATTCTGCCAAGAAAGAACCCAACAGTTAAAGCTTAGTGTAGTCTAGGTTTTTGTTTCGAAAGTCGTAAAAACAGGAAAAAATGAGGGGACATTTGGTGAGGTACCAAGATGTGAGACTGTTTATATTGTGGCTCGTTTAATTTTTAGAACCTCAAACGTGTCGGTTTCTCCAGTGTCACCTTTGTTTTTCCTTTGTAAACAGACAAGTGGACAGAAAAGTAGGTAGATAGAACGGCTGCCAGTCCCCGCCACCCACAGCCCAGGCCCCATGGAGGCCCTCCCAGCACAGCTACAGGCCTGCTGGCCAGGAGCAAACAGTCTATGTACAGAACCCCTGGAGACCCCCGGCCTAGAACGCCTGCAGCACAGAGCAGCTGGGTCCGGACACAGGCACGAGGTCCTTGGCAGTGTCTTTTCTGCCACACACACGCCAGGGTCTCCTCTCCCGTGGAAGAGCAGGAAGAAGACAGGCACTCCTAGAGCCTGTTATGTGCCAGCCTAGTCTCATCCACTGGCCCTTCTTGCCAGGGCTGTGCCAGCACCCTCTCTCCCTCCCTTACTCATCCCATCTCCCTCCAAATGCTGTCCTGTTTCCGGAGGAAAGGTAGGACCAGAAAGGCTGTGACTGCAGGCCACACATCACACAACAGCACAATGAGCTGAGGGAAGGCGTCCACGAGAACCTCCCACAGAGCCTGCGGCTCTGTCAGCTGATCCGCACAGCAGGAAGAAGCAAAGGAATCATGAGTCTTGTCCTCCTTATTATACAACGTAATACTTCAGAGGGGAAGGACTCAAGCTAACACATGAAGAAATGGCAGAATTAAAAAGTGAGGGCGTGGCCGGGCACGGTGGCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCGGGAGGATCACTTGGGCCCAAGAGTTGTTATAGCGAGCTTTGCTTGTTCCACTGTACTCCAGCCTGGGCAACAGAGGGAGACGCCCTCTTTCAAAAAACGGGGGAAAAAAGTACTACAAATGAACCATCTTTGAAAATGCATCTGGAGGCTGGGTGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGATGAGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAGTATGAAAATTAGCTGGGCACGGTGGTGCATGCCTATAATCCCAGATACTCGGGAGACTGAGGCAGGATAATCGCTTGAACTCAGGAGGCAGAGGTTGCAATGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAATGAGAGACTGTCTCCCCAAAAAAAAAAAAAAAAGCGTGTGGAAAATATAATCCAAATACCAACTATGGTTCTATCTGTGAAACAATCTCTAGCTACATAAATGTTTGCTCTTCTTATTGATAAAACCAAATTAATCTAGCAAAGAGATAAAAGGAATATAAGAATCACGAAACTCTGCAGAGTAATCTGAGGCATGTCACTCGTACTCGCATTCAAGGGCAGTCCTGGGTCCACACATCTGTGCTCGCCTGACAGGAGGCCAAGTGGCACTCACCTCCTTGGCACCGGTGAAGGCCACACCAGAAAATGCGTATCTGTCCACGACGAGGGTCACGCCCTGGCTCAACTTTTCCTTAATTAACGGCCTGAAAAAGAGGATGCTCCTGAGCCCTGGTCCTGTTTCATAGGCCTTGAACTGTCAAGCTTAAATTATCCCAACAGGCTGTGCGCAGTGGCTCACCCCTATAATCCCAGCGCTTTGGGAGGCTGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAATACAAAATATTAGCTGGACATGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCATTCCAGCCTGGGTGACACAGCGAGACTCCATCTCAAAAAAAGAAAAAGAAAATTATCCCAACAATACAACTCAGAAATCTCATATGACAACAAGTACAGCACAGTGATTTGTAACCTTACTTTTAATCCAAAAAGGTCTGGATCTTCTCTAGAAGATGCCATACCCACACCTCCAGCAAAACCCAACATGGAGAAGATAACCTTACTAAATAGTAACAAACACAACTGGTAAAGTTCAATGTTCCAGAAACACGGCAGGGGAAAGGAGATGCACTGTCAGCTGTCTTGGTCAGAGAGGCCAGCTCTACCCTGTCGAGGAAGAAGAAAGCACAGGCAAAGAAGAGAGCAGAGGATGGTGGCGGGGGAAGCGTGGGCACAGCCAGCAGGTGACTCATCCATGCTCATGACCCCTAGCCTGGACTGCAAGGATGTTCTCAGCCAAATACCACAAGTCCACCATCATCCCTACAGCTGCCAAGATCACAGATGTACAAAGACACGGGGCCTGACACTAGTGAGAAGCACTGCTCAAGACAGAGAAAGAAAAGTCCGATTCATTCGACTCAGCCAGTCTCACTGGGGCCTTCAAATCACAGGGGCACCCACATAAGGAGTCAACTGGCCTCTGACAAAGCAGCAGAGGGATGCAATGGTGCAAAGGCATTTTCCTCAATAAACGCTGCTGGAACAACTGGACATCCTCATGAAAGAGAATAAATCTAGACCAGACCGTATACCCTCCACGAACATAAATTCAAAATGAATCACAGGCCTGGCACGGTGGCTCACGCCTGTAATCCCAGCTTTCAAGGAGGCAGAGGCAGGAGGATTGCTTGAGCCCAGGAGCTCGAGACCTGCCTGGGCAATATAGTGAGACCCCGTTCTCCACAAAAAGTGGGGGAAAAAAAAGACAAAATGAATCACAGACCCAAATGTAAAATGCAAAACTATGCAACTCCTAGACAGTAACACAGGAGAAAACTTAGATCACCTGGGGTTTGGCAGACTGTTTAGATACAAAACCAAAGGCACAGCCCATGAGAGAATTGATTAAGATGGACTTCACGAAAATAATAACTTTGTGCTTTGTGAGAGACACTGTCAAGAGAAGGAAAGGACAGCCGGACGTGGTGGCTCATGCCTGTGAGCCCAGCACTTTTGGAAGCCATTTGGCGGGATGGATCCCTTGAGGCCAGGTGTTTGAGACCAGCCTGAGTAACAATAGTGAGACCCCATCTCTACAAAAAATGTAAAAATTAGCCAGGGATAGTGGCACGCACCTGTAGTCCTAGCTACTCCAGAGGCTGAGGCAGGAGGATCACTTGAACCCAGGAGTTTAAGGCTGCAGTAAGCTGTGATCATGCCACAACATTCCAGCCTGGGCAACAGAGCAAGACATTTCTCCTAAAAAAAAATAAGGCCAGGCAGGGTGGCTCATGCCTCTAATCACAGCACTTTGGGAAACCAAGGCAGGAGGACTGCTTGGGTCCAGGAGTTCAAGACCAGCCTGGGCAACAATAGTGAGACTCCATCGCTACAAAAAATTTTACAAAAATTAGCCAGGTGTGTTAACGTGCCTATAGTTGCAGCTACTTGGGAGGCTGAGGTGGGAAGATCACTTGAACCCGGGAGGTCGAGGCTGCAGTAAGCTGTGATTGCGCACTGCACTCAGC
GCTGAGATCGTGCCATTGCACTCCAGCCTGGGTTGGCACCCAGAGCAAGATTCTGTCTCAAAAAAAAAAGAATTTGCTGGCACCGAGAACCCCTGAACGACTACTCCCGGGGCTCCACATCTGGGAGGACCAGACGGAAACGGCAGCAGCTTTGCTGACACAACTGTGCCAGCCACCACGGTGTCATCCTGAGCCACTTCTCCACGCTTCCTAGTGTGCAATTCTGGGATTCTCACCTTCCAGTTCAAAGTCGTGTCTTTCATGAGCTGGTGGAAACACCGGAGCGCCCGCTCCTGGAAAGCCCCGTTCTCATAGCGCTCATGGCCAAACGCTCCCCGCTTGGCAGCATCCGCCAGCTGTAACTGGAGGAACAGGACCAGGTCGGGTTTGGGAAGGCCCACGTCTGGCTGTTTACACCAATCTAGGGAAAAATTCTGCCAAGAAAGAACCCAACAGTTAAAGCTTAGTGTAGTCTAGGTTTTTGTTTCGAAAGTCGTAAAAACAGGAAAAAATGAGGGGACATTTGGTGAGGTACCAAGATGTGAGACTGTTTATATTGTGGCTCGTTTAATTTTTAGAACCTCAAACGTGTCGGTTTCTCCAGTGTCACCTTTGTTTTTCCTTTGTAAACAGACAAGTGGACAGAAAAGTAGGTAGATAGAACGGCTGCCAGTCCCCGCCACCCACAGCCCAGGCCCCATGGAGGCCCTCCCAGCACAGCTACAGGCCTGCTGGCCAGGAGCAAACAGTCTATGTACAGAACCCCTGGAGACCCCCGGCCTAGAACGCCTGCAGCACAGAGCAGCTGGGTCCGGACACAGGCACGAGGTCCTTGGCAGTGTCTTTTCTGCCACACACACGCCAGGGTCTCCTCTCCCGTGGAAGAGCAGGAAGAAGACAGGCACTCCTAGAGCCTGTTATGTGCCAGCCTAGTCTCATCCACTGGCCCTTCTTGCCAGGGCTGTGCCAGCACCCTCTCTCCCTCCCTTACTCATCCCATCTCCCTCCAAATGCTGTCCTGTTTCCGGAGGAAAGGTAGGACCAGAAAGGCTGTGACTGCAGGCCACACATCACACAACAGCACAATGAGCTGAGGGAAGGCGTCCACGAGAACCTCCCACAGAGCCTGCGGCTCTGTCAGCTGATCCGCACAGCAGGAAGAAGCAAAGGAATCATGAGTCTTGTCCTCCTTATTATACAACGTAATACTTCAGAGGGGAAGGACTCAAGCTAACACATGAAGAAATGGCAGAATTAAAAAGTGAGGGCGTGGCCGGGCACGGTGGCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCGGGAGGATCACTTGGGCCCAAGAGTTGTTATAGCGAGCTTTGCTTGTTCCACTGTACTCCAGCCTGGGCAACAGAGGGAGACGCCCTCTTTCAAAAAACGGGGGAAAAAAGTACTACAAATGAACCATCTTTGAAAATGCATCTGGAGGCTGGGTGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGATGAGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAGTATGAAAATTAGCTGGGCACGGTGGTGCATGCCTATAATCCCAGATACTCGGGAGACTGAGGCAGGATAATCGCTTGAACTCAGGAGGCAGAGGTTGCAATGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAATGAGAGACTGTCTCCCCAAAAAAAAAAAAAAAAGCGTGTGGAAAATATAATCCAAATACCAACTATGGTTCTATCTGTGAAACAATCTCTAGCTACATAAATGTTTGCTCTTCTTATTGATAAAACCAAATTAATCTAGCAAAGAGATAAAAGGAATATAAGAATCACGAAACTCTGCAGAGTAATCTGAGGCATGTCACTCGTACTCGCATTCAAGGGCAGTCCTGGGTCCACACATCTGTGCTCGCCTGACAGGAGGCCAAGTGGCACTCACCTCCTTGGCACCGGTGAAGGCCACACCAGAAAATGTGTATCTGTCCACGACGAGGGTCACGCCCTGGCTCAACTTTTCCTTAATTAACGGCCTGAAAAAGAGGATGCTCCTGAGCCCTGGTCCTGTTTCATAGGCCTTGAACTGTCAAGCTTAAATTATCCCAACAGGCTGTGCGCAGTGGCTCACCCCTATAATCCCAGCGCTTTGGGAGGCTGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAATACAAAATATTAGCTGGACATGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCATTCCAGCCTGGGTGACACAGCGAGACTCCATCTCAAAAAAAGAAAAAGAAAATTATCCCAACAATACAACTCAGAAATCTCATATGACAACAAGTACAGCACAGTGATTTGTAACCTTACTTTTAATCCAAAAAGGTCTGGATCTTCTCTAGAAGATGCCATACCCACACCTCCAGCAAAACCCAACATGGAGAAGATAACCTTACTAAATAGTAACAAACACAACTGGTAAAGTTCAATGTTCCAGAAACACGGCAGGGGAAAGGAGATGCACTGTCAGCTGTCTTGGTCAGAGAGGCCAGCTCTACCCTGTCGAGGAAGAAGAAAGCACAGGCAAAGAAGAGAGCAGAGGATGGTGGCGGGGGAAGCGTGGGCACAGCCAGCAGGTGACTCATCCATGCTCATGACCCCTAGCCTGGACTGCAAGGATGTTCTCAGCCAAATACCACAAGTCCACCATCATCCCTACAGCTGCCAAGATCACAGATGTACAAAGACACGGGGCCTGACACTAGTGAGAAGCACTGCTCAAGACAGAGAAAGAAAAGTCCGATTCATTCGACTCAGCCAGTCTCACTGGGGCCTTCAAATCACAGGGGCACCCACATAAGGAGTCAACTGGCCTCTGACAAAGCAGCAGAGGGATGCAATGGTGCAAAGGCATTTTCCTCAATAAACGCTGCTGGAACAACTGGACATCCTCATGAAAGAGAATAAATCTAGACCAGACCGTATACCCTCCACGAACATAAATTCAAAATGAATCACAGGCCTGGCACGGTGGCTCACGCCTGTAATCCCAGCTTTCAAGGAGGCAGAGGCAGGAGGATTGCTTGAGCCCAGGAGCTCGAGACCTGCCTGGGCAATATAGTGAGACCCCGTTCTCCACAAAAAGTGGGGGAAAAAAAAGACAAAATGAATCACAGACCCAAATGTAAAATGCAAAACTATGCAACTCCTAGACAGTAACACAGGAGAAAACTTAGATCACCTGGGGTTTGGCAGACTGTTTAGATACAAAACCAAAGGCACAGCCCATGAGAGAATTGATTAAGATGGACTTCACGAAAATAATAACTTTGTGCTTTGTGAGAGACACTGTCAAGAGAAGGAAAGGACAGCCGGACGTGGTGGCTCATGCCTGTGAGCCCAGCACTTTTGGAAGCCATTTGGCGGGATGGATCCCTTGAGGCCAGGTGTTTGAGACCAGCCTGAGTAACAATAGTGAGACCCCATCTCTACAAAAAATGTAAAAATTAGCCAGGGATAGTGGCACGCACCTGTAGTCCTAGCTACTCCAGAGGCTGAGGCAGGAGGATCACTTGAACCCAGGAGTTTAAGGCTGCAGTAAGCTGTGATCATGCCACAACATTCCAGCCTGGGCAACAGAGCAAGACATTTCTCCTAAAAAAAAATAAGGCCAGGCAGGGTGGCTCATGCCTCTAATCACAGCACTTTGGGAAACCAAGGCAGGAGGACTGCTTGGGTCCAGGAGTTCAAGACCAGCCTGGGCAACAATAGTGAGACTCCATCGCTACAAAAAATTTTACAAAAATTAGCCAGGTGTGTTAACGTGCCTATAGTTGCAGCTACTTGGGAGGCTGAGGTGGGAAGATCACTTGAACCCGGGAGGTCGAGGCTGCAGTAAGCTGTGATTGCGCACTGCACTCAGC
Task1_train_5861
This variant impacts the gene DTYMK (deoxythymidylate kinase) on Chromosome 2. Is the change likely to result in a pathogenic outcome?
Pathogenic; Neurodegeneration, childhood-onset, with progressive microcephaly
TGTCTCAAAAAAAAAAGAATTTGCTGGCACCGAGAACCCCTGAACGACTACTCCCGGGGCTCCACATCTGGGAGGACCAGACGGAAACGGCAGCAGCTTTGCTGACACAACTGTGCCAGCCACCACGGTGTCATCCTGAGCCACTTCTCCACGCTTCCTAGTGTGCAATTCTGGGATTCTCACCTTCCAGTTCAAAGTCGTGTCTTTCATGAGCTGGTGGAAACACCGGAGCGCCCGCTCCTGGAAAGCCCCGTTCTCATAGCGCTCATGGCCAAACGCTCCCCGCTTGGCAGCATCCGCCAGCTGTAACTGGAGGAACAGGACCAGGTCGGGTTTGGGAAGGCCCACGTCTGGCTGTTTACACCAATCTAGGGAAAAATTCTGCCAAGAAAGAACCCAACAGTTAAAGCTTAGTGTAGTCTAGGTTTTTGTTTCGAAAGTCGTAAAAACAGGAAAAAATGAGGGGACATTTGGTGAGGTACCAAGATGTGAGACTGTTTATATTGTGGCTCGTTTAATTTTTAGAACCTCAAACGTGTCGGTTTCTCCAGTGTCACCTTTGTTTTTCCTTTGTAAACAGACAAGTGGACAGAAAAGTAGGTAGATAGAACGGCTGCCAGTCCCCGCCACCCACAGCCCAGGCCCCATGGAGGCCCTCCCAGCACAGCTACAGGCCTGCTGGCCAGGAGCAAACAGTCTATGTACAGAACCCCTGGAGACCCCCGGCCTAGAACGCCTGCAGCACAGAGCAGCTGGGTCCGGACACAGGCACGAGGTCCTTGGCAGTGTCTTTTCTGCCACACACACGCCAGGGTCTCCTCTCCCGTGGAAGAGCAGGAAGAAGACAGGCACTCCTAGAGCCTGTTATGTGCCAGCCTAGTCTCATCCACTGGCCCTTCTTGCCAGGGCTGTGCCAGCACCCTCTCTCCCTCCCTTACTCATCCCATCTCCCTCCAAATGCTGTCCTGTTTCCGGAGGAAAGGTAGGACCAGAAAGGCTGTGACTGCAGGCCACACATCACACAACAGCACAATGAGCTGAGGGAAGGCGTCCACGAGAACCTCCCACAGAGCCTGCGGCTCTGTCAGCTGATCCGCACAGCAGGAAGAAGCAAAGGAATCATGAGTCTTGTCCTCCTTATTATACAACGTAATACTTCAGAGGGGAAGGACTCAAGCTAACACATGAAGAAATGGCAGAATTAAAAAGTGAGGGCGTGGCCGGGCACGGTGGCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCGGGAGGATCACTTGGGCCCAAGAGTTGTTATAGCGAGCTTTGCTTGTTCCACTGTACTCCAGCCTGGGCAACAGAGGGAGACGCCCTCTTTCAAAAAACGGGGGAAAAAAGTACTACAAATGAACCATCTTTGAAAATGCATCTGGAGGCTGGGTGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGATGAGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAGTATGAAAATTAGCTGGGCACGGTGGTGCATGCCTATAATCCCAGATACTCGGGAGACTGAGGCAGGATAATCGCTTGAACTCAGGAGGCAGAGGTTGCAATGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAATGAGAGACTGTCTCCCCAAAAAAAAAAAAAAAAGCGTGTGGAAAATATAATCCAAATACCAACTATGGTTCTATCTGTGAAACAATCTCTAGCTACATAAATGTTTGCTCTTCTTATTGATAAAACCAAATTAATCTAGCAAAGAGATAAAAGGAATATAAGAATCACGAAACTCTGCAGAGTAATCTGAGGCATGTCACTCGTACTCGCATTCAAGGGCAGTCCTGGGTCCACACATCTGTGCTCGCCTGACAGGAGGCCAAGTGGCACTCACCTCCTTGGCACCGGTGAAGGCCACACCAGAAAATGCGTATCTGTCCACGACGAGGGTCACGCCCTGGCTCAACTTTTCCTTAATTAACGGCCTGAAAAAGAGGATGCTCCTGAGCCCTGGTCCTGTTTCATAGGCCTTGAACTGTCAAGCTTAAATTATCCCAACAGGCTGTGCGCAGTGGCTCACCCCTATAATCCCAGCGCTTTGGGAGGCTGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAATACAAAATATTAGCTGGACATGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCATTCCAGCCTGGGTGACACAGCGAGACTCCATCTCAAAAAAAGAAAAAGAAAATTATCCCAACAATACAACTCAGAAATCTCATATGACAACAAGTACAGCACAGTGATTTGTAACCTTACTTTTAATCCAAAAAGGTCTGGATCTTCTCTAGAAGATGCCATACCCACACCTCCAGCAAAACCCAACATGGAGAAGATAACCTTACTAAATAGTAACAAACACAACTGGTAAAGTTCAATGTTCCAGAAACACGGCAGGGGAAAGGAGATGCACTGTCAGCTGTCTTGGTCAGAGAGGCCAGCTCTACCCTGTCGAGGAAGAAGAAAGCACAGGCAAAGAAGAGAGCAGAGGATGGTGGCGGGGGAAGCGTGGGCACAGCCAGCAGGTGACTCATCCATGCTCATGACCCCTAGCCTGGACTGCAAGGATGTTCTCAGCCAAATACCACAAGTCCACCATCATCCCTACAGCTGCCAAGATCACAGATGTACAAAGACACGGGGCCTGACACTAGTGAGAAGCACTGCTCAAGACAGAGAAAGAAAAGTCCGATTCATTCGACTCAGCCAGTCTCACTGGGGCCTTCAAATCACAGGGGCACCCACATAAGGAGTCAACTGGCCTCTGACAAAGCAGCAGAGGGATGCAATGGTGCAAAGGCATTTTCCTCAATAAACGCTGCTGGAACAACTGGACATCCTCATGAAAGAGAATAAATCTAGACCAGACCGTATACCCTCCACGAACATAAATTCAAAATGAATCACAGGCCTGGCACGGTGGCTCACGCCTGTAATCCCAGCTTTCAAGGAGGCAGAGGCAGGAGGATTGCTTGAGCCCAGGAGCTCGAGACCTGCCTGGGCAATATAGTGAGACCCCGTTCTCCACAAAAAGTGGGGGAAAAAAAAGACAAAATGAATCACAGACCCAAATGTAAAATGCAAAACTATGCAACTCCTAGACAGTAACACAGGAGAAAACTTAGATCACCTGGGGTTTGGCAGACTGTTTAGATACAAAACCAAAGGCACAGCCCATGAGAGAATTGATTAAGATGGACTTCACGAAAATAATAACTTTGTGCTTTGTGAGAGACACTGTCAAGAGAAGGAAAGGACAGCCGGACGTGGTGGCTCATGCCTGTGAGCCCAGCACTTTTGGAAGCCATTTGGCGGGATGGATCCCTTGAGGCCAGGTGTTTGAGACCAGCCTGAGTAACAATAGTGAGACCCCATCTCTACAAAAAATGTAAAAATTAGCCAGGGATAGTGGCACGCACCTGTAGTCCTAGCTACTCCAGAGGCTGAGGCAGGAGGATCACTTGAACCCAGGAGTTTAAGGCTGCAGTAAGCTGTGATCATGCCACAACATTCCAGCCTGGGCAACAGAGCAAGACATTTCTCCTAAAAAAAAATAAGGCCAGGCAGGGTGGCTCATGCCTCTAATCACAGCACTTTGGGAAACCAAGGCAGGAGGACTGCTTGGGTCCAGGAGTTCAAGACCAGCCTGGGCAACAATAGTGAGACTCCATCGCTACAAAAAATTTTACAAAAATTAGCCAGGTGTGTTAACGTGCCTATAGTTGCAGCTACTTGGGAGGCTGAGGTGGGAAGATCACTTGAACCCGGGAGGTCGAGGCTGCAGTAAGCTGTGATTGCGCACTGCACTCAGCCTGCATGACACAGAGACCCTGTCTAAAAAAAGAAAAGAGAGAAAGAGAGTGAG
TGTCTCAAAAAAAAAAGAATTTGCTGGCACCGAGAACCCCTGAACGACTACTCCCGGGGCTCCACATCTGGGAGGACCAGACGGAAACGGCAGCAGCTTTGCTGACACAACTGTGCCAGCCACCACGGTGTCATCCTGAGCCACTTCTCCACGCTTCCTAGTGTGCAATTCTGGGATTCTCACCTTCCAGTTCAAAGTCGTGTCTTTCATGAGCTGGTGGAAACACCGGAGCGCCCGCTCCTGGAAAGCCCCGTTCTCATAGCGCTCATGGCCAAACGCTCCCCGCTTGGCAGCATCCGCCAGCTGTAACTGGAGGAACAGGACCAGGTCGGGTTTGGGAAGGCCCACGTCTGGCTGTTTACACCAATCTAGGGAAAAATTCTGCCAAGAAAGAACCCAACAGTTAAAGCTTAGTGTAGTCTAGGTTTTTGTTTCGAAAGTCGTAAAAACAGGAAAAAATGAGGGGACATTTGGTGAGGTACCAAGATGTGAGACTGTTTATATTGTGGCTCGTTTAATTTTTAGAACCTCAAACGTGTCGGTTTCTCCAGTGTCACCTTTGTTTTTCCTTTGTAAACAGACAAGTGGACAGAAAAGTAGGTAGATAGAACGGCTGCCAGTCCCCGCCACCCACAGCCCAGGCCCCATGGAGGCCCTCCCAGCACAGCTACAGGCCTGCTGGCCAGGAGCAAACAGTCTATGTACAGAACCCCTGGAGACCCCCGGCCTAGAACGCCTGCAGCACAGAGCAGCTGGGTCCGGACACAGGCACGAGGTCCTTGGCAGTGTCTTTTCTGCCACACACACGCCAGGGTCTCCTCTCCCGTGGAAGAGCAGGAAGAAGACAGGCACTCCTAGAGCCTGTTATGTGCCAGCCTAGTCTCATCCACTGGCCCTTCTTGCCAGGGCTGTGCCAGCACCCTCTCTCCCTCCCTTACTCATCCCATCTCCCTCCAAATGCTGTCCTGTTTCCGGAGGAAAGGTAGGACCAGAAAGGCTGTGACTGCAGGCCACACATCACACAACAGCACAATGAGCTGAGGGAAGGCGTCCACGAGAACCTCCCACAGAGCCTGCGGCTCTGTCAGCTGATCCGCACAGCAGGAAGAAGCAAAGGAATCATGAGTCTTGTCCTCCTTATTATACAACGTAATACTTCAGAGGGGAAGGACTCAAGCTAACACATGAAGAAATGGCAGAATTAAAAAGTGAGGGCGTGGCCGGGCACGGTGGCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCGGGAGGATCACTTGGGCCCAAGAGTTGTTATAGCGAGCTTTGCTTGTTCCACTGTACTCCAGCCTGGGCAACAGAGGGAGACGCCCTCTTTCAAAAAACGGGGGAAAAAAGTACTACAAATGAACCATCTTTGAAAATGCATCTGGAGGCTGGGTGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGATGAGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAGTATGAAAATTAGCTGGGCACGGTGGTGCATGCCTATAATCCCAGATACTCGGGAGACTGAGGCAGGATAATCGCTTGAACTCAGGAGGCAGAGGTTGCAATGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAATGAGAGACTGTCTCCCCAAAAAAAAAAAAAAAAGCGTGTGGAAAATATAATCCAAATACCAACTATGGTTCTATCTGTGAAACAATCTCTAGCTACATAAATGTTTGCTCTTCTTATTGATAAAACCAAATTAATCTAGCAAAGAGATAAAAGGAATATAAGAATCACGAAACTCTGCAGAGTAATCTGAGGCATGTCACTCGTACTCGCATTCAAGGGCAGTCCTGGGTCCACACATCTGTGCTCGCCTGACAGGAGGCCAAGTGGCACTCACCTCCTTGGCACCGGTGAAGGCCACACCAGAAAATGCGTATCTGTCCACGACGAGGGTCACGCCCTGGCTCAACTTTTCCTTAATTAACAGCCTGAAAAAGAGGATGCTCCTGAGCCCTGGTCCTGTTTCATAGGCCTTGAACTGTCAAGCTTAAATTATCCCAACAGGCTGTGCGCAGTGGCTCACCCCTATAATCCCAGCGCTTTGGGAGGCTGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAATACAAAATATTAGCTGGACATGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCATTCCAGCCTGGGTGACACAGCGAGACTCCATCTCAAAAAAAGAAAAAGAAAATTATCCCAACAATACAACTCAGAAATCTCATATGACAACAAGTACAGCACAGTGATTTGTAACCTTACTTTTAATCCAAAAAGGTCTGGATCTTCTCTAGAAGATGCCATACCCACACCTCCAGCAAAACCCAACATGGAGAAGATAACCTTACTAAATAGTAACAAACACAACTGGTAAAGTTCAATGTTCCAGAAACACGGCAGGGGAAAGGAGATGCACTGTCAGCTGTCTTGGTCAGAGAGGCCAGCTCTACCCTGTCGAGGAAGAAGAAAGCACAGGCAAAGAAGAGAGCAGAGGATGGTGGCGGGGGAAGCGTGGGCACAGCCAGCAGGTGACTCATCCATGCTCATGACCCCTAGCCTGGACTGCAAGGATGTTCTCAGCCAAATACCACAAGTCCACCATCATCCCTACAGCTGCCAAGATCACAGATGTACAAAGACACGGGGCCTGACACTAGTGAGAAGCACTGCTCAAGACAGAGAAAGAAAAGTCCGATTCATTCGACTCAGCCAGTCTCACTGGGGCCTTCAAATCACAGGGGCACCCACATAAGGAGTCAACTGGCCTCTGACAAAGCAGCAGAGGGATGCAATGGTGCAAAGGCATTTTCCTCAATAAACGCTGCTGGAACAACTGGACATCCTCATGAAAGAGAATAAATCTAGACCAGACCGTATACCCTCCACGAACATAAATTCAAAATGAATCACAGGCCTGGCACGGTGGCTCACGCCTGTAATCCCAGCTTTCAAGGAGGCAGAGGCAGGAGGATTGCTTGAGCCCAGGAGCTCGAGACCTGCCTGGGCAATATAGTGAGACCCCGTTCTCCACAAAAAGTGGGGGAAAAAAAAGACAAAATGAATCACAGACCCAAATGTAAAATGCAAAACTATGCAACTCCTAGACAGTAACACAGGAGAAAACTTAGATCACCTGGGGTTTGGCAGACTGTTTAGATACAAAACCAAAGGCACAGCCCATGAGAGAATTGATTAAGATGGACTTCACGAAAATAATAACTTTGTGCTTTGTGAGAGACACTGTCAAGAGAAGGAAAGGACAGCCGGACGTGGTGGCTCATGCCTGTGAGCCCAGCACTTTTGGAAGCCATTTGGCGGGATGGATCCCTTGAGGCCAGGTGTTTGAGACCAGCCTGAGTAACAATAGTGAGACCCCATCTCTACAAAAAATGTAAAAATTAGCCAGGGATAGTGGCACGCACCTGTAGTCCTAGCTACTCCAGAGGCTGAGGCAGGAGGATCACTTGAACCCAGGAGTTTAAGGCTGCAGTAAGCTGTGATCATGCCACAACATTCCAGCCTGGGCAACAGAGCAAGACATTTCTCCTAAAAAAAAATAAGGCCAGGCAGGGTGGCTCATGCCTCTAATCACAGCACTTTGGGAAACCAAGGCAGGAGGACTGCTTGGGTCCAGGAGTTCAAGACCAGCCTGGGCAACAATAGTGAGACTCCATCGCTACAAAAAATTTTACAAAAATTAGCCAGGTGTGTTAACGTGCCTATAGTTGCAGCTACTTGGGAGGCTGAGGTGGGAAGATCACTTGAACCCGGGAGGTCGAGGCTGCAGTAAGCTGTGATTGCGCACTGCACTCAGCCTGCATGACACAGAGACCCTGTCTAAAAAAAGAAAAGAGAGAAAGAGAGTGAG
Task1_train_5862
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?
Pathogenic; D-2-hydroxyglutaric aciduria 1
GAGCACGCCTGCACTGGCAGGAAGGTGGGAGCTTCGCGGTGTGAAAACAGGCTGGGCCCCTGTGTCACCTCTGGCGGCCTTGCCCCCATGGCCCCCTCCGTCTTTGTGGGGCTCCCATCGTTAACACTGGACCACCGGGAGGGAGCCCTCCTTTTCATCTTTCCCGTTAGAAGGTAAACATCACAGGAGTGGGAAATTCTGTGCTCATTCTGTGTCTGGAACGCGGCCTGGCCTGCATTCTTGGGGGGTACTCATGTTTGTGTTGAGAACCCTGCCACAGGCGCGTCACAAGTGTGTCCGAGTCGAAAGCTTTGCCATGAGTCCTGGGGCTCCTGAGCCCACTCGGGACAGGGACGCAGTGAGCGCAGGTGCCAGGGTTCCCTCAGGTGCCGCACTGAAGTGTCGGGCCGAGGCCCAGGTGCCCAGCAGGCCCCTCTGCAAAAATTGCTCATTTGATGAAAGAGACATAAGTGGCTTTCTGATCAGAAAAGCAAGGTGGACACCACAGCCTGGTTCTCAGAGCTCCACGAAGAGGTGACAGGCTCCCGTGACTGCACCTGCTGCCTCTCTGCAGCCCCCATCACCTGGGAAAGTCGTCTCAAGGAAACCCAAAGGCAGAAAGACGCCTGCTCACTTGGGGCAGCAGTGGTTAGCAACACCGGCGAACTAGCTCAGAGGGCTCCCACTGGTCACATCCAGGCATTCAGCAAATAAGGCGGCCAAGACTTATAGCCCAGTGAATAAAGTGAGAAGCCGAGAGCCCACATCACTGTGAATAAGCAGCTACATAAACACGTCAGTGAGAGCGAAGGGAAAGCCCTCCCTCGTGGCAGAGTCAGCTAAGAGGCCGGGCGCGGCGACTCATGCCTGTAACCACAGCCCTTAGGGAGGCTGAGGTGGGTGGATTGCTTGAGGCCATGAGTTCAAGATCAGACTGGGGAACATGGTGAAACCCTGTTTCTACTAAAAATATCAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAGTCCCAGCTGCTTGGGAGGCTGAAGCAGGAGGATCGCTTGAGCTCAGGAGGTTGAGGCTGCAGTGAGCTGTGATTGTGTCACTGTACTCCAGACTGGGTGACGGAGTGAGACCCTGTTTCAAAAGAAATAAAAGGAAGTGTAGGTGGACAGATGGATTTAGGAAAATCACCAGTTGGCAACCATCCTAGTAACTGATTTGGTCTAGGATAATCAAAGATGTTAATGGGTGAAGCTTGAGGAGCAACAGGATGTCCACATAGTCTCAAGCGTCTGCTTGTGAGGTGCACACACATCACGAAAGGAAGTGTGGTGGCGTGGCAGGAGGGAAGCCTGCAGACATCCCGTTACCGTGGGACCGAGCCGACCTCACCACAAGTGGGTGGGCAACCTTGGAGCTGCCAATGCCTGGCCTGTGGGACTCTCATCCATGGGCCCAGCCTTACCCACTTCTGCACACTGTGCCCAGTGCCCGGCCCACCACCTCCCATGTGGGACCTAGTTTTGGTTTTTTTGAGATGGCTTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGTTGCGATCATAGCTCACTGCAGCCTTGACCTCCTGGACTCAGATGATTCTCCCTCCTCAGCTTCCCAAATAAGATCACTCTCTGGGGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGCAGTGGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGGGTGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGGAGAGGTTGCAGTGAGCCAGGATCGTGGCACTTCAGCCTGGGCAACAGAGTGAGAGTCCGTCTCCAAAAAAAAAAACTCGCTCTCTGGGGCGAGTGACCACTTGCCTCATCTGCAGCTCCCCCCACGCTGTCTCATAGGATCTTCTTCCTGTCACAGGCTGTAGCAAGGTGCTGCTGAGGCCACGGACGTCGGAGGAGGTGTCCCACATCCTCAGGTGAGGTGGTGGCTCCCGGCTCCCCCAGCCTTCCCTGTTGCCTGTGGGTCATTTCCTCATGGAGCCTGTGGGCAGCTGGGGTGACGCGGTGCGAAGCCAGCCGATGACATCTTGGTTTGTGTGTCTCAGTGTTTGTTCTGTGGTTTTTCGGTGCTATCTCAATGCATCTGTGGTGTGTAATCATTTCCCCCCATTTGGCAATGCCCATGCCCATTTCTTGGCACTGTCTGTAACAGCAAAGCTCCTCCCCCATGAACACACTACAGGGTGGCACTGGTCTCCGGGTGTCCATGACTGTGGACAGTGCTTTAGATCATCCTCAGCAGGTGCTTTGGGGCAACGTGCACTTACTCTGTTAAACTCCATCCCTGGGACTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGCCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGACTTGCTGTCTCCAGGGTTTATTTCATGTATGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTATGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTATGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGACTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGCCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTACATGGGCAGATTCCTTTTCCCAGAGCACGGAACTTTGGTTTCTCCAAACCCCTAGCCACTGGGTGTGCTCTAGGCTTTGGGGCTTTGCAAAGGTGCAGGCTGGTTGGGAGGGAGGTATCCTTGGGCACACGTCTGGGGGATAATGGGCCGAGGGTGGGGAGATGCAGGCAGAGGGTGGAAGGCAGTGGGGGCAGTGCGGTCGAGGAACCCTGAGCTGGACCCTCTGTGAGCATGGTGTGAACGGGAAGGATGGGAGCCGGGCGTGTAGGACGTTCTGTCCTTTGAGGGAAGCCTTGTAGGACGTCAGAATCGGGGCCTCCACTTCCGTCTCCCTGTGCACAGCTTTCGGATTGGCCTCTGTCCTTCCTCAGAATCCCTCACATGCGTGGGCTGGGGAGGAGCCCCCGCTGAGGCTGCAGGCAGGGCAGGGTAATCAGGATTTGGAGTCAGGCACTGGTCCTGCGGCGTGTCCTTGGGGATGGTGGCGTAGGGGTGGGGACAGAGCCCCAACGTCCCTCCTGTCCTCATCCCAGGCACTGCCACGAGAGGAACCTGGCCGTGAACCCACAGGGGGGCAACACAGGCATGGTGGGTGGCAGCGTCCCCGTCTTTGACGAGATCATCCTCTCCACTGCCCGCATGAACCGGGTCCTCAGCTTCCACAGCGTGTCTGGTAAGCCTGTGCCACCCGTCGGGGCCCAGGAGTCCCTCCTGGTGCTGGTGGAGTTCTTCCTTGCCAGCGTCTGCAACTGTGGGGTGCTTGGGTGGGTGAATGAGTTAGGGCCGGCGCTGGGGAAAGAACCAGCGTCTGTAGCCTGGCCGCCTAGCCCCACCTCGCCCGGCCCCTCCAGACATGCGTGCTGGTGAGGGCTTGTCATTCTGGTCCCTTCCGACTCCATCCCGCTCTAGAGGTGTGTGAGGTGCAGAGTGGCATGTGTGAGGGGATCCTGACCCAGGGTGCCAGGGCGTGGCAGGCATGAGGGGATCCTGACCCAGGGCGCCAGGGCGTGGCAGGCGTGAGGGGATCCTGACCCAGGGCGCCAGGGCGTGGCAGGCGTGAGGGGATCCTGACCCAGGGCGCCAGAGCGTGGCAGGCATGAGGGGATCCTGACCCAGGGCGCCAGGGCGTGGCAGGCGTGAGGGGATCCTGACCCAGGGCGCCAGGGCGTGGCAGGCGTGAGGGGATCCTGACCCAGGGTGCCAGGGCGTGGC
GAGCACGCCTGCACTGGCAGGAAGGTGGGAGCTTCGCGGTGTGAAAACAGGCTGGGCCCCTGTGTCACCTCTGGCGGCCTTGCCCCCATGGCCCCCTCCGTCTTTGTGGGGCTCCCATCGTTAACACTGGACCACCGGGAGGGAGCCCTCCTTTTCATCTTTCCCGTTAGAAGGTAAACATCACAGGAGTGGGAAATTCTGTGCTCATTCTGTGTCTGGAACGCGGCCTGGCCTGCATTCTTGGGGGGTACTCATGTTTGTGTTGAGAACCCTGCCACAGGCGCGTCACAAGTGTGTCCGAGTCGAAAGCTTTGCCATGAGTCCTGGGGCTCCTGAGCCCACTCGGGACAGGGACGCAGTGAGCGCAGGTGCCAGGGTTCCCTCAGGTGCCGCACTGAAGTGTCGGGCCGAGGCCCAGGTGCCCAGCAGGCCCCTCTGCAAAAATTGCTCATTTGATGAAAGAGACATAAGTGGCTTTCTGATCAGAAAAGCAAGGTGGACACCACAGCCTGGTTCTCAGAGCTCCACGAAGAGGTGACAGGCTCCCGTGACTGCACCTGCTGCCTCTCTGCAGCCCCCATCACCTGGGAAAGTCGTCTCAAGGAAACCCAAAGGCAGAAAGACGCCTGCTCACTTGGGGCAGCAGTGGTTAGCAACACCGGCGAACTAGCTCAGAGGGCTCCCACTGGTCACATCCAGGCATTCAGCAAATAAGGCGGCCAAGACTTATAGCCCAGTGAATAAAGTGAGAAGCCGAGAGCCCACATCACTGTGAATAAGCAGCTACATAAACACGTCAGTGAGAGCGAAGGGAAAGCCCTCCCTCGTGGCAGAGTCAGCTAAGAGGCCGGGCGCGGCGACTCATGCCTGTAACCACAGCCCTTAGGGAGGCTGAGGTGGGTGGATTGCTTGAGGCCATGAGTTCAAGATCAGACTGGGGAACATGGTGAAACCCTGTTTCTACTAAAAATATCAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAGTCCCAGCTGCTTGGGAGGCTGAAGCAGGAGGATCGCTTGAGCTCAGGAGGTTGAGGCTGCAGTGAGCTGTGATTGTGTCACTGTACTCCAGACTGGGTGACGGAGTGAGACCCTGTTTCAAAAGAAATAAAAGGAAGTGTAGGTGGACAGATGGATTTAGGAAAATCACCAGTTGGCAACCATCCTAGTAACTGATTTGGTCTAGGATAATCAAAGATGTTAATGGGTGAAGCTTGAGGAGCAACAGGATGTCCACATAGTCTCAAGCGTCTGCTTGTGAGGTGCACACACATCACGAAAGGAAGTGTGGTGGCGTGGCAGGAGGGAAGCCTGCAGACATCCCGTTACCGTGGGACCGAGCCGACCTCACCACAAGTGGGTGGGCAACCTTGGAGCTGCCAATGCCTGGCCTGTGGGACTCTCATCCATGGGCCCAGCCTTACCCACTTCTGCACACTGTGCCCAGTGCCCGGCCCACCACCTCCCATGTGGGACCTAGTTTTGGTTTTTTTGAGATGGCTTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGTTGCGATCATAGCTCACTGCAGCCTTGACCTCCTGGACTCAGATGATTCTCCCTCCTCAGCTTCCCAAATAAGATCACTCTCTGGGGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGCAGTGGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGGGTGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGGAGAGGTTGCAGTGAGCCAGGATCGTGGCACTTCAGCCTGGGCAACAGAGTGAGAGTCCGTCTCCAAAAAAAAAAACTCGCTCTCTGGGGCGAGTGACCACTTGCCTCATCTGCAGCTCCCCCCACGCTGTCTCATAGGATCTTCTTCCTGTCACAGGCTGTAGCAAGGTGCTGCTGAGGCCACGGACGTGGGAGGAGGTGTCCCACATCCTCAGGTGAGGTGGTGGCTCCCGGCTCCCCCAGCCTTCCCTGTTGCCTGTGGGTCATTTCCTCATGGAGCCTGTGGGCAGCTGGGGTGACGCGGTGCGAAGCCAGCCGATGACATCTTGGTTTGTGTGTCTCAGTGTTTGTTCTGTGGTTTTTCGGTGCTATCTCAATGCATCTGTGGTGTGTAATCATTTCCCCCCATTTGGCAATGCCCATGCCCATTTCTTGGCACTGTCTGTAACAGCAAAGCTCCTCCCCCATGAACACACTACAGGGTGGCACTGGTCTCCGGGTGTCCATGACTGTGGACAGTGCTTTAGATCATCCTCAGCAGGTGCTTTGGGGCAACGTGCACTTACTCTGTTAAACTCCATCCCTGGGACTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGCCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGACTTGCTGTCTCCAGGGTTTATTTCATGTATGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTATGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTATGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGACTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGCCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTACATGGGCAGATTCCTTTTCCCAGAGCACGGAACTTTGGTTTCTCCAAACCCCTAGCCACTGGGTGTGCTCTAGGCTTTGGGGCTTTGCAAAGGTGCAGGCTGGTTGGGAGGGAGGTATCCTTGGGCACACGTCTGGGGGATAATGGGCCGAGGGTGGGGAGATGCAGGCAGAGGGTGGAAGGCAGTGGGGGCAGTGCGGTCGAGGAACCCTGAGCTGGACCCTCTGTGAGCATGGTGTGAACGGGAAGGATGGGAGCCGGGCGTGTAGGACGTTCTGTCCTTTGAGGGAAGCCTTGTAGGACGTCAGAATCGGGGCCTCCACTTCCGTCTCCCTGTGCACAGCTTTCGGATTGGCCTCTGTCCTTCCTCAGAATCCCTCACATGCGTGGGCTGGGGAGGAGCCCCCGCTGAGGCTGCAGGCAGGGCAGGGTAATCAGGATTTGGAGTCAGGCACTGGTCCTGCGGCGTGTCCTTGGGGATGGTGGCGTAGGGGTGGGGACAGAGCCCCAACGTCCCTCCTGTCCTCATCCCAGGCACTGCCACGAGAGGAACCTGGCCGTGAACCCACAGGGGGGCAACACAGGCATGGTGGGTGGCAGCGTCCCCGTCTTTGACGAGATCATCCTCTCCACTGCCCGCATGAACCGGGTCCTCAGCTTCCACAGCGTGTCTGGTAAGCCTGTGCCACCCGTCGGGGCCCAGGAGTCCCTCCTGGTGCTGGTGGAGTTCTTCCTTGCCAGCGTCTGCAACTGTGGGGTGCTTGGGTGGGTGAATGAGTTAGGGCCGGCGCTGGGGAAAGAACCAGCGTCTGTAGCCTGGCCGCCTAGCCCCACCTCGCCCGGCCCCTCCAGACATGCGTGCTGGTGAGGGCTTGTCATTCTGGTCCCTTCCGACTCCATCCCGCTCTAGAGGTGTGTGAGGTGCAGAGTGGCATGTGTGAGGGGATCCTGACCCAGGGTGCCAGGGCGTGGCAGGCATGAGGGGATCCTGACCCAGGGCGCCAGGGCGTGGCAGGCGTGAGGGGATCCTGACCCAGGGCGCCAGGGCGTGGCAGGCGTGAGGGGATCCTGACCCAGGGCGCCAGAGCGTGGCAGGCATGAGGGGATCCTGACCCAGGGCGCCAGGGCGTGGCAGGCGTGAGGGGATCCTGACCCAGGGCGCCAGGGCGTGGCAGGCGTGAGGGGATCCTGACCCAGGGTGCCAGGGCGTGGC
Task1_train_5863
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?
Pathogenic; D-2-hydroxyglutaric aciduria 1
TGCACACTGTGCCCAGTGCCCGGCCCACCACCTCCCATGTGGGACCTAGTTTTGGTTTTTTTGAGATGGCTTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGTTGCGATCATAGCTCACTGCAGCCTTGACCTCCTGGACTCAGATGATTCTCCCTCCTCAGCTTCCCAAATAAGATCACTCTCTGGGGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGCAGTGGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGGGTGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGGAGAGGTTGCAGTGAGCCAGGATCGTGGCACTTCAGCCTGGGCAACAGAGTGAGAGTCCGTCTCCAAAAAAAAAAACTCGCTCTCTGGGGCGAGTGACCACTTGCCTCATCTGCAGCTCCCCCCACGCTGTCTCATAGGATCTTCTTCCTGTCACAGGCTGTAGCAAGGTGCTGCTGAGGCCACGGACGTCGGAGGAGGTGTCCCACATCCTCAGGTGAGGTGGTGGCTCCCGGCTCCCCCAGCCTTCCCTGTTGCCTGTGGGTCATTTCCTCATGGAGCCTGTGGGCAGCTGGGGTGACGCGGTGCGAAGCCAGCCGATGACATCTTGGTTTGTGTGTCTCAGTGTTTGTTCTGTGGTTTTTCGGTGCTATCTCAATGCATCTGTGGTGTGTAATCATTTCCCCCCATTTGGCAATGCCCATGCCCATTTCTTGGCACTGTCTGTAACAGCAAAGCTCCTCCCCCATGAACACACTACAGGGTGGCACTGGTCTCCGGGTGTCCATGACTGTGGACAGTGCTTTAGATCATCCTCAGCAGGTGCTTTGGGGCAACGTGCACTTACTCTGTTAAACTCCATCCCTGGGACTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGCCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGACTTGCTGTCTCCAGGGTTTATTTCATGTATGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTATGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTATGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGACTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGCCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTACATGGGCAGATTCCTTTTCCCAGAGCACGGAACTTTGGTTTCTCCAAACCCCTAGCCACTGGGTGTGCTCTAGGCTTTGGGGCTTTGCAAAGGTGCAGGCTGGTTGGGAGGGAGGTATCCTTGGGCACACGTCTGGGGGATAATGGGCCGAGGGTGGGGAGATGCAGGCAGAGGGTGGAAGGCAGTGGGGGCAGTGCGGTCGAGGAACCCTGAGCTGGACCCTCTGTGAGCATGGTGTGAACGGGAAGGATGGGAGCCGGGCGTGTAGGACGTTCTGTCCTTTGAGGGAAGCCTTGTAGGACGTCAGAATCGGGGCCTCCACTTCCGTCTCCCTGTGCACAGCTTTCGGATTGGCCTCTGTCCTTCCTCAGAATCCCTCACATGCGTGGGCTGGGGAGGAGCCCCCGCTGAGGCTGCAGGCAGGGCAGGGTAATCAGGATTTGGAGTCAGGCACTGGTCCTGCGGCGTGTCCTTGGGGATGGTGGCGTAGGGGTGGGGACAGAGCCCCAACGTCCCTCCTGTCCTCATCCCAGGCACTGCCACGAGAGGAACCTGGCCGTGAACCCACAGGGGGGCAACACAGGCATGGTGGGTGGCAGCGTCCCCGTCTTTGACGAGATCATCCTCTCCACTGCCCGCATGAACCGGGTCCTCAGCTTCCACAGCGTGTCTGGTAAGCCTGTGCCACCCGTCGGGGCCCAGGAGTCCCTCCTGGTGCTGGTGGAGTTCTTCCTTGCCAGCGTCTGCAACTGTGGGGTGCTTGGGTGGGTGAATGAGTTAGGGCCGGCGCTGGGGAAAGAACCAGCGTCTGTAGCCTGGCCGCCTAGCCCCACCTCGCCCGGCCCCTCCAGACATGCGTGCTGGTGAGGGCTTGTCATTCTGGTCCCTTCCGACTCCATCCCGCTCTAGAGGTGTGTGAGGTGCAGAGTGGCATGTGTGAGGGGATCCTGACCCAGGGTGCCAGGGCGTGGCAGGCATGAGGGGATCCTGACCCAGGGCGCCAGGGCGTGGCAGGCGTGAGGGGATCCTGACCCAGGGCGCCAGGGCGTGGCAGGCGTGAGGGGATCCTGACCCAGGGCGCCAGAGCGTGGCAGGCATGAGGGGATCCTGACCCAGGGCGCCAGGGCGTGGCAGGCGTGAGGGGATCCTGACCCAGGGCGCCAGGGCGTGGCAGGCGTGAGGGGATCCTGACCCAGGGTGCCAGGGCGTGGCAGGCATGAGGGGATCCTGACCCAGGGCGCCAGGGTCCTGCTCTGGAGCTGGGCCTCTCCCCGCAAGGCCGGGCTCCAGGCCCCGGTCACTCTGTGGTCGGGCGCCTGCACTGTTGGGTGTTGAGCAGCATCCTTGGCCTCCGCCTACAAGGTGCCCATGGCACCCCCAACCCAGGCATTGTCCCACATGCCCAGGGCAGGATCAGCCCCAGCTGAGAATCTTCCCTCTTCTACTCCTTTCCACGAGTGTGTGTGGGGGTGGGAAGTTTTTTCCTCTCTTTTCATGTTACTCATTTTTTTTTTGTGTCACCATAATTATAAAGGTCCTGTGAGGCCCAGATGTTTTCGTCCTTGGGCCAGCGATGTGGGGGTGCCTCTTCTCCTCAGCCCTGGCGCTGAGGCTGATGTTCCTTCTGGGTGGCTTGCCTGTGCAAGATGGGGGTTGGGACTCACCAGCCCGGGGGCCCACTGGAAGCCAAGTGCTGCGGCAGCCTGGTCACTCTCTGCAGGAATTCTGGTTTGCCAGGCGGGCTGCGTCCTGGAGGAGCTGAGCCGGTATGTGGAGGAACGGGACTTCATCATGCCGCTGGACTTAGGAGCCAAGGGCAGCTGCCACATCGGGGGAAACGTGGCAACCAACGCTGGAGGCCTGCGGTTTCTTCGATATGGCTCACTGCATGGGACTGTCCTGGGCCTGGAAGTGGTGAGCTGGGGCAGCTGCTTGGTGCAGAGGTCGCCACGGGGTGTCCTCTCACGGCTCTCATGGGCCCACGTGGTGGCACAGGTGCATGGGGCCCCTCGGGGTGGGAGGTCTTGGTTCCTGGCCCTGGGCCCCTCAAGGATGTGTGGGCTACATACACCCCCATCCTGAGGGAGGCCTGGCCCTGCCCTGTCCTCCCACGAGAGGGTGATTTTGTGTCCACTGCCTCGGGGCCACACAGAGAGGATGCAGTTACAGGGGACACCGCCCCGGCAGTGGTGGGCTTCTGGGAGCCGGGTGTGAAGGAAGGCTCATCCAGGGTCAGCTTCGTGACCTTCTGCTGCCCACTGTTCCTCCAGGGCCCCTCTGTTTACCCGCACCCTCACCAGCCGAGTGTCACAGGCAGAGCTCTCTGTCCTGTTTACCCAAGTGGACGAAGCAAACACAAAACCATGCTTTGGTGCCATCCAGTAAATTATGACGCTTCAGTAGCTTTTTTTTCTGGCCAGCCACTGATTATCTTTATTGTAAATTACTTTTTTGCACTCATGAGCTGTGTAGGCCTCCGACTCACAGTACCAGCACACAGGACTCGGAGAGGCCCACAGCTCGGGAGCTTTGATGCCTTATGGCTGGTGGGTCCAGAGGTGGCTGGGTCCTGGGCTGGGCTCACGCCCTACTCCCAGGGAGCCTCCCCACTGCCCCCGACCCCGGGCGTGCCCCCTGGGCAGTGAGCTGCTGTGTGTGGAGGGTGTCACT
TGCACACTGTGCCCAGTGCCCGGCCCACCACCTCCCATGTGGGACCTAGTTTTGGTTTTTTTGAGATGGCTTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGTTGCGATCATAGCTCACTGCAGCCTTGACCTCCTGGACTCAGATGATTCTCCCTCCTCAGCTTCCCAAATAAGATCACTCTCTGGGGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGCAGTGGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGGGTGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGGAGAGGTTGCAGTGAGCCAGGATCGTGGCACTTCAGCCTGGGCAACAGAGTGAGAGTCCGTCTCCAAAAAAAAAAACTCGCTCTCTGGGGCGAGTGACCACTTGCCTCATCTGCAGCTCCCCCCACGCTGTCTCATAGGATCTTCTTCCTGTCACAGGCTGTAGCAAGGTGCTGCTGAGGCCACGGACGTCGGAGGAGGTGTCCCACATCCTCAGGTGAGGTGGTGGCTCCCGGCTCCCCCAGCCTTCCCTGTTGCCTGTGGGTCATTTCCTCATGGAGCCTGTGGGCAGCTGGGGTGACGCGGTGCGAAGCCAGCCGATGACATCTTGGTTTGTGTGTCTCAGTGTTTGTTCTGTGGTTTTTCGGTGCTATCTCAATGCATCTGTGGTGTGTAATCATTTCCCCCCATTTGGCAATGCCCATGCCCATTTCTTGGCACTGTCTGTAACAGCAAAGCTCCTCCCCCATGAACACACTACAGGGTGGCACTGGTCTCCGGGTGTCCATGACTGTGGACAGTGCTTTAGATCATCCTCAGCAGGTGCTTTGGGGCAACGTGCACTTACTCTGTTAAACTCCATCCCTGGGACTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGCCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGACTTGCTGTCTCCAGGGTTTATTTCATGTATGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTATGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTATGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGACTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGCCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTGTGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTACATGGGCAGATTCCTTTTCCCAGAGCACGGAACTTTGGTTTCTCCAAACCCCTAGCCACTGGGTGTGCTCTAGGCTTTGGGGCTTTGCAAAGGTGCAGGCTGGTTGGGAGGGAGGTATCCTTGGGCACACGTCTGGGGGATAATGGGCCGAGGGTGGGGAGATGCAGGCAGAGGGTGGAAGGCAGTGGGGGCAGTGCGGTCGAGGAACCCTGAGCTGGACCCTCTGTGAGCATGGTGTGAACGGGAAGGATGGGAGCCGGGCGTGTAGGACGTTCTGTCCTTTGAGGGAAGCCTTGTAGGACGTCAGAATCGGGGCCTCCACTTCCGTCTCCCTGTGCACAGCTTTCGGATTGGCCTCTGTCCTTCCTCAGAATCCCTCACATGCGTGGGCTGGGGAGGAGCCCCCGCTGAGGCTGCAGGCAGGGCAGGGTAATCAGGATTTGGAGTCAGGCACTGGTCCTGCGGCGTGTCCTTGGGGATGGTGGCGTAGGGGTGGGGACAGAGCCCCAACGTCCCTCCTGTCCTCATCCCAGGCACTGCCACGAGAGGAACCTGGCCGTGAACCCACAGGGGGGCAACACAGGCATGGTGGGTGGCAGCGTCCCCGTCTTTGACGAGATCAGCCTCTCCACTGCCCGCATGAACCGGGTCCTCAGCTTCCACAGCGTGTCTGGTAAGCCTGTGCCACCCGTCGGGGCCCAGGAGTCCCTCCTGGTGCTGGTGGAGTTCTTCCTTGCCAGCGTCTGCAACTGTGGGGTGCTTGGGTGGGTGAATGAGTTAGGGCCGGCGCTGGGGAAAGAACCAGCGTCTGTAGCCTGGCCGCCTAGCCCCACCTCGCCCGGCCCCTCCAGACATGCGTGCTGGTGAGGGCTTGTCATTCTGGTCCCTTCCGACTCCATCCCGCTCTAGAGGTGTGTGAGGTGCAGAGTGGCATGTGTGAGGGGATCCTGACCCAGGGTGCCAGGGCGTGGCAGGCATGAGGGGATCCTGACCCAGGGCGCCAGGGCGTGGCAGGCGTGAGGGGATCCTGACCCAGGGCGCCAGGGCGTGGCAGGCGTGAGGGGATCCTGACCCAGGGCGCCAGAGCGTGGCAGGCATGAGGGGATCCTGACCCAGGGCGCCAGGGCGTGGCAGGCGTGAGGGGATCCTGACCCAGGGCGCCAGGGCGTGGCAGGCGTGAGGGGATCCTGACCCAGGGTGCCAGGGCGTGGCAGGCATGAGGGGATCCTGACCCAGGGCGCCAGGGTCCTGCTCTGGAGCTGGGCCTCTCCCCGCAAGGCCGGGCTCCAGGCCCCGGTCACTCTGTGGTCGGGCGCCTGCACTGTTGGGTGTTGAGCAGCATCCTTGGCCTCCGCCTACAAGGTGCCCATGGCACCCCCAACCCAGGCATTGTCCCACATGCCCAGGGCAGGATCAGCCCCAGCTGAGAATCTTCCCTCTTCTACTCCTTTCCACGAGTGTGTGTGGGGGTGGGAAGTTTTTTCCTCTCTTTTCATGTTACTCATTTTTTTTTTGTGTCACCATAATTATAAAGGTCCTGTGAGGCCCAGATGTTTTCGTCCTTGGGCCAGCGATGTGGGGGTGCCTCTTCTCCTCAGCCCTGGCGCTGAGGCTGATGTTCCTTCTGGGTGGCTTGCCTGTGCAAGATGGGGGTTGGGACTCACCAGCCCGGGGGCCCACTGGAAGCCAAGTGCTGCGGCAGCCTGGTCACTCTCTGCAGGAATTCTGGTTTGCCAGGCGGGCTGCGTCCTGGAGGAGCTGAGCCGGTATGTGGAGGAACGGGACTTCATCATGCCGCTGGACTTAGGAGCCAAGGGCAGCTGCCACATCGGGGGAAACGTGGCAACCAACGCTGGAGGCCTGCGGTTTCTTCGATATGGCTCACTGCATGGGACTGTCCTGGGCCTGGAAGTGGTGAGCTGGGGCAGCTGCTTGGTGCAGAGGTCGCCACGGGGTGTCCTCTCACGGCTCTCATGGGCCCACGTGGTGGCACAGGTGCATGGGGCCCCTCGGGGTGGGAGGTCTTGGTTCCTGGCCCTGGGCCCCTCAAGGATGTGTGGGCTACATACACCCCCATCCTGAGGGAGGCCTGGCCCTGCCCTGTCCTCCCACGAGAGGGTGATTTTGTGTCCACTGCCTCGGGGCCACACAGAGAGGATGCAGTTACAGGGGACACCGCCCCGGCAGTGGTGGGCTTCTGGGAGCCGGGTGTGAAGGAAGGCTCATCCAGGGTCAGCTTCGTGACCTTCTGCTGCCCACTGTTCCTCCAGGGCCCCTCTGTTTACCCGCACCCTCACCAGCCGAGTGTCACAGGCAGAGCTCTCTGTCCTGTTTACCCAAGTGGACGAAGCAAACACAAAACCATGCTTTGGTGCCATCCAGTAAATTATGACGCTTCAGTAGCTTTTTTTTCTGGCCAGCCACTGATTATCTTTATTGTAAATTACTTTTTTGCACTCATGAGCTGTGTAGGCCTCCGACTCACAGTACCAGCACACAGGACTCGGAGAGGCCCACAGCTCGGGAGCTTTGATGCCTTATGGCTGGTGGGTCCAGAGGTGGCTGGGTCCTGGGCTGGGCTCACGCCCTACTCCCAGGGAGCCTCCCCACTGCCCCCGACCCCGGGCGTGCCCCCTGGGCAGTGAGCTGCTGTGTGTGGAGGGTGTCACT
Task1_train_5864
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?
Pathogenic; D-2-hydroxyglutaric aciduria 1
GCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGTGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGAGAAGCAGGGAGAAGCCAAGGTAGCAGCGGCCCCAGAGGAGGGGTCGGCACGTCCAGGGCGAGTGGCATGAGGGTGAGGCTCAGCCGGGGGTCTCGGGGTTGCTGGGGAGGGGATCTTGGGAGGGGCTGTTGGGGGAGGAGTGGGGTCCTGGGGGCTGCCCTGCCCAGCCTGACCCATGTGCCCTTGTCCCTCCAGGAGATGGTAACCTGCACCTCAATGTGACGGCGGAGGCCTTCAGCCCCTCGCTCCTGGCTGCCCTGGAGCCCCACGTGTACGAGTGGACGGCCGGGCAGCAGGGCAGCGTCAGCGCGGAGCACGGAGTGGGCTTCAGGAAGAGGGACGTCCTGGGCTACAGCAAGCCACCGGGGGCCCTGCAGCTCATGCAGCAGCTCAAGGCCCTGCTGGACCCCAAGGGCATCCTCAACCCCTACAAGACGCTGCCCAGCCAGGCCTGACGGCCACTCCTGCTGCTGCCAAGGCCCACTGGGGGTCGGCGGGTGGCTCTCGGGCGGGGGTGTTGCGGTGGCTCTGAGGGATGAGCCGGCAGTGGGCAGGGGACCAGGCACCTGGTTGAAGGGACTGGGAGCCCGCACTGGGGAACTGCCGGACGCAGGCCCTCGGGCAGGAGCATCTGGCAGAGTGGGGGGCGTGGCAGGCACCCTCCTTTGCAGGGCGAGGTGGGGCCTCTGCAGCCATCCTGGACAGGCCGGGGTGGCGGCAGCTTTGCCCACGTGGAAGCGGGGTGGGTCTCACTTGCGTGGTGGCCCCTGGCCCCATCTTGCCTGCTGCGGCCTGGGGAGCAGGCGCTGGGTGGTGGTTCTGCCTGCTTGCTGCTCGTTCCCCGGGCATGCGTGGGCAGCGGGGGGCATGCGTGGGCAGCAGGGGGCGTGGGCAGCGGGGGCACGGGCAGGACCACGTGGGCCGTGATCGTGGGTTGCCGAGAGGACCTGAGCGCTGCGGCTCTGCTGAATGGAGCCGGGTCCCTCAGGCCGTGGACGCCCTCGGGAGGGGGGTGACTGTGGCTTGTGTCTGGACAGGAATGTGTCATTTCCCACATCTTCTAGAGGGCTGCCAGCTGGGAAGACAGTTATCAGGGCAAGCTGTGCTCTGAGTTTCGGGTTCTGCTCCTACAAAGAACGTGCGGTGCTGCGGGCGAGGGCCCCGGCACGGACAAGGGCCACTGCAGAGTGTGTTTCTGCTCGTCAGCTGCCCTGGGCAGCGGATGGGCTGGGCGATGCAGCTGGATGCACATCTCATTCTGTCATGAATGTCCAGTAAAAATCTGAATTGGTTGCAACCTTCTCTTTGCTTCTGTTACTGGAAAATCATCTTTCAGAGCCCATTGTGAAGGGCCTGTGCATCCCATTCCCACAGCCCCTGGACCACTGGGGCCATAGTGTGGCCGGGCCTGACACTACTGTGACTGTCACTGTGCCTCCTGTCCCCATGCACTGTCTGGTGGCAGCTGAGCTCCCACCGGCTGCACAGGGCAGGCCTGGACATGGAACGGGCAACTCATAACCCTTGGTGGCCCTGGAGGCCCTCAGCAGCTGGGCCTGACCGAGGTGTATCCACGGGCCCCTCCTGTCCCTGTGGGTGTCGAGGACCTCGGATCCTGCTCAGAGGGGGAAACATACCTCTGACCCGCTGCCCTGCAGAGCCCGCCTGCCTAGCCAGGGCCTCTGTGTGGACAGGCCACGTCCTCCTGGTGGAGGTCCTCGGGGGATGGGTGGGGGCCTTGGTCCAGCATGATTTTTTTTTTTTGAGACAGGATCTCACTCTGTCACCCAGGCTGGAGTGCAGGGGTATAGTCACAGCTCAGTGCAGCCTCCACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGAGTACAGGTGTGAGCCATCATGCCCAGATAATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGTTCCGCCTCCCGGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAACTGGGACTACAGGTGTCCACCACCGTGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCTTCTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATCACAGGCATGAGCCACCGCACCCGGCCATGCCCAGATAATTTTTAAATTTTTTTTTTTGTAGAGATG
GCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGTGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGAGAAGCAGGGAGAAGCCAAGGTAGCAGCGGCCCCAGAGGAGGGGTCGGCACGTCCAGGGCGAGTGGCATGAGGGTGAGGCTCAGCCGGGGGTCTCGGGGTTGCTGGGGAGGGGATCTTGGGAGGGGCTGTTGGGGGAGGAGTGGGGTCCTGGGGGCTGCCCTGCCCAGCCTGACCCATGTGCCCTTGTCCCTCCAGGAGATGGTGACCTGCACCTCAATGTGACGGCGGAGGCCTTCAGCCCCTCGCTCCTGGCTGCCCTGGAGCCCCACGTGTACGAGTGGACGGCCGGGCAGCAGGGCAGCGTCAGCGCGGAGCACGGAGTGGGCTTCAGGAAGAGGGACGTCCTGGGCTACAGCAAGCCACCGGGGGCCCTGCAGCTCATGCAGCAGCTCAAGGCCCTGCTGGACCCCAAGGGCATCCTCAACCCCTACAAGACGCTGCCCAGCCAGGCCTGACGGCCACTCCTGCTGCTGCCAAGGCCCACTGGGGGTCGGCGGGTGGCTCTCGGGCGGGGGTGTTGCGGTGGCTCTGAGGGATGAGCCGGCAGTGGGCAGGGGACCAGGCACCTGGTTGAAGGGACTGGGAGCCCGCACTGGGGAACTGCCGGACGCAGGCCCTCGGGCAGGAGCATCTGGCAGAGTGGGGGGCGTGGCAGGCACCCTCCTTTGCAGGGCGAGGTGGGGCCTCTGCAGCCATCCTGGACAGGCCGGGGTGGCGGCAGCTTTGCCCACGTGGAAGCGGGGTGGGTCTCACTTGCGTGGTGGCCCCTGGCCCCATCTTGCCTGCTGCGGCCTGGGGAGCAGGCGCTGGGTGGTGGTTCTGCCTGCTTGCTGCTCGTTCCCCGGGCATGCGTGGGCAGCGGGGGGCATGCGTGGGCAGCAGGGGGCGTGGGCAGCGGGGGCACGGGCAGGACCACGTGGGCCGTGATCGTGGGTTGCCGAGAGGACCTGAGCGCTGCGGCTCTGCTGAATGGAGCCGGGTCCCTCAGGCCGTGGACGCCCTCGGGAGGGGGGTGACTGTGGCTTGTGTCTGGACAGGAATGTGTCATTTCCCACATCTTCTAGAGGGCTGCCAGCTGGGAAGACAGTTATCAGGGCAAGCTGTGCTCTGAGTTTCGGGTTCTGCTCCTACAAAGAACGTGCGGTGCTGCGGGCGAGGGCCCCGGCACGGACAAGGGCCACTGCAGAGTGTGTTTCTGCTCGTCAGCTGCCCTGGGCAGCGGATGGGCTGGGCGATGCAGCTGGATGCACATCTCATTCTGTCATGAATGTCCAGTAAAAATCTGAATTGGTTGCAACCTTCTCTTTGCTTCTGTTACTGGAAAATCATCTTTCAGAGCCCATTGTGAAGGGCCTGTGCATCCCATTCCCACAGCCCCTGGACCACTGGGGCCATAGTGTGGCCGGGCCTGACACTACTGTGACTGTCACTGTGCCTCCTGTCCCCATGCACTGTCTGGTGGCAGCTGAGCTCCCACCGGCTGCACAGGGCAGGCCTGGACATGGAACGGGCAACTCATAACCCTTGGTGGCCCTGGAGGCCCTCAGCAGCTGGGCCTGACCGAGGTGTATCCACGGGCCCCTCCTGTCCCTGTGGGTGTCGAGGACCTCGGATCCTGCTCAGAGGGGGAAACATACCTCTGACCCGCTGCCCTGCAGAGCCCGCCTGCCTAGCCAGGGCCTCTGTGTGGACAGGCCACGTCCTCCTGGTGGAGGTCCTCGGGGGATGGGTGGGGGCCTTGGTCCAGCATGATTTTTTTTTTTTGAGACAGGATCTCACTCTGTCACCCAGGCTGGAGTGCAGGGGTATAGTCACAGCTCAGTGCAGCCTCCACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGAGTACAGGTGTGAGCCATCATGCCCAGATAATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGTTCCGCCTCCCGGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAACTGGGACTACAGGTGTCCACCACCGTGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCTTCTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATCACAGGCATGAGCCACCGCACCCGGCCATGCCCAGATAATTTTTAAATTTTTTTTTTTGTAGAGATG
Task1_train_5865
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?
Pathogenic; D-2-hydroxyglutaric aciduria 1
GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGTGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGAGAAGCAGGGAGAAGCCAAGGTAGCAGCGGCCCCAGAGGAGGGGTCGGCACGTCCAGGGCGAGTGGCATGAGGGTGAGGCTCAGCCGGGGGTCTCGGGGTTGCTGGGGAGGGGATCTTGGGAGGGGCTGTTGGGGGAGGAGTGGGGTCCTGGGGGCTGCCCTGCCCAGCCTGACCCATGTGCCCTTGTCCCTCCAGGAGATGGTAACCTGCACCTCAATGTGACGGCGGAGGCCTTCAGCCCCTCGCTCCTGGCTGCCCTGGAGCCCCACGTGTACGAGTGGACGGCCGGGCAGCAGGGCAGCGTCAGCGCGGAGCACGGAGTGGGCTTCAGGAAGAGGGACGTCCTGGGCTACAGCAAGCCACCGGGGGCCCTGCAGCTCATGCAGCAGCTCAAGGCCCTGCTGGACCCCAAGGGCATCCTCAACCCCTACAAGACGCTGCCCAGCCAGGCCTGACGGCCACTCCTGCTGCTGCCAAGGCCCACTGGGGGTCGGCGGGTGGCTCTCGGGCGGGGGTGTTGCGGTGGCTCTGAGGGATGAGCCGGCAGTGGGCAGGGGACCAGGCACCTGGTTGAAGGGACTGGGAGCCCGCACTGGGGAACTGCCGGACGCAGGCCCTCGGGCAGGAGCATCTGGCAGAGTGGGGGGCGTGGCAGGCACCCTCCTTTGCAGGGCGAGGTGGGGCCTCTGCAGCCATCCTGGACAGGCCGGGGTGGCGGCAGCTTTGCCCACGTGGAAGCGGGGTGGGTCTCACTTGCGTGGTGGCCCCTGGCCCCATCTTGCCTGCTGCGGCCTGGGGAGCAGGCGCTGGGTGGTGGTTCTGCCTGCTTGCTGCTCGTTCCCCGGGCATGCGTGGGCAGCGGGGGGCATGCGTGGGCAGCAGGGGGCGTGGGCAGCGGGGGCACGGGCAGGACCACGTGGGCCGTGATCGTGGGTTGCCGAGAGGACCTGAGCGCTGCGGCTCTGCTGAATGGAGCCGGGTCCCTCAGGCCGTGGACGCCCTCGGGAGGGGGGTGACTGTGGCTTGTGTCTGGACAGGAATGTGTCATTTCCCACATCTTCTAGAGGGCTGCCAGCTGGGAAGACAGTTATCAGGGCAAGCTGTGCTCTGAGTTTCGGGTTCTGCTCCTACAAAGAACGTGCGGTGCTGCGGGCGAGGGCCCCGGCACGGACAAGGGCCACTGCAGAGTGTGTTTCTGCTCGTCAGCTGCCCTGGGCAGCGGATGGGCTGGGCGATGCAGCTGGATGCACATCTCATTCTGTCATGAATGTCCAGTAAAAATCTGAATTGGTTGCAACCTTCTCTTTGCTTCTGTTACTGGAAAATCATCTTTCAGAGCCCATTGTGAAGGGCCTGTGCATCCCATTCCCACAGCCCCTGGACCACTGGGGCCATAGTGTGGCCGGGCCTGACACTACTGTGACTGTCACTGTGCCTCCTGTCCCCATGCACTGTCTGGTGGCAGCTGAGCTCCCACCGGCTGCACAGGGCAGGCCTGGACATGGAACGGGCAACTCATAACCCTTGGTGGCCCTGGAGGCCCTCAGCAGCTGGGCCTGACCGAGGTGTATCCACGGGCCCCTCCTGTCCCTGTGGGTGTCGAGGACCTCGGATCCTGCTCAGAGGGGGAAACATACCTCTGACCCGCTGCCCTGCAGAGCCCGCCTGCCTAGCCAGGGCCTCTGTGTGGACAGGCCACGTCCTCCTGGTGGAGGTCCTCGGGGGATGGGTGGGGGCCTTGGTCCAGCATGATTTTTTTTTTTTGAGACAGGATCTCACTCTGTCACCCAGGCTGGAGTGCAGGGGTATAGTCACAGCTCAGTGCAGCCTCCACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGAGTACAGGTGTGAGCCATCATGCCCAGATAATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGTTCCGCCTCCCGGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAACTGGGACTACAGGTGTCCACCACCGTGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCTTCTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATCACAGGCATGAGCCACCGCACCCGGCCATGCCCAGATAATTTTTAAATTTTTTTTTTTGTAGAGATGAGGTGTCCCTGTGTTG
GTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGTGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGAGAAGCAGGGAGAAGCCAAGGTAGCAGCGGCCCCAGAGGAGGGGTCGGCACGTCCAGGGCGAGTGGCATGAGGGTGAGGCTCAGCCGGGGGTCTCGGGGTTGCTGGGGAGGGGATCTTGGGAGGGGCTGTTGGGGGAGGAGTGGGGTCCTGGGGGCTGCCCTGCCCAGCCTGACCCATGTGCCCTTGTCCCTCCAGGAGATGGTAACCTGCACCTCAATGCGACGGCGGAGGCCTTCAGCCCCTCGCTCCTGGCTGCCCTGGAGCCCCACGTGTACGAGTGGACGGCCGGGCAGCAGGGCAGCGTCAGCGCGGAGCACGGAGTGGGCTTCAGGAAGAGGGACGTCCTGGGCTACAGCAAGCCACCGGGGGCCCTGCAGCTCATGCAGCAGCTCAAGGCCCTGCTGGACCCCAAGGGCATCCTCAACCCCTACAAGACGCTGCCCAGCCAGGCCTGACGGCCACTCCTGCTGCTGCCAAGGCCCACTGGGGGTCGGCGGGTGGCTCTCGGGCGGGGGTGTTGCGGTGGCTCTGAGGGATGAGCCGGCAGTGGGCAGGGGACCAGGCACCTGGTTGAAGGGACTGGGAGCCCGCACTGGGGAACTGCCGGACGCAGGCCCTCGGGCAGGAGCATCTGGCAGAGTGGGGGGCGTGGCAGGCACCCTCCTTTGCAGGGCGAGGTGGGGCCTCTGCAGCCATCCTGGACAGGCCGGGGTGGCGGCAGCTTTGCCCACGTGGAAGCGGGGTGGGTCTCACTTGCGTGGTGGCCCCTGGCCCCATCTTGCCTGCTGCGGCCTGGGGAGCAGGCGCTGGGTGGTGGTTCTGCCTGCTTGCTGCTCGTTCCCCGGGCATGCGTGGGCAGCGGGGGGCATGCGTGGGCAGCAGGGGGCGTGGGCAGCGGGGGCACGGGCAGGACCACGTGGGCCGTGATCGTGGGTTGCCGAGAGGACCTGAGCGCTGCGGCTCTGCTGAATGGAGCCGGGTCCCTCAGGCCGTGGACGCCCTCGGGAGGGGGGTGACTGTGGCTTGTGTCTGGACAGGAATGTGTCATTTCCCACATCTTCTAGAGGGCTGCCAGCTGGGAAGACAGTTATCAGGGCAAGCTGTGCTCTGAGTTTCGGGTTCTGCTCCTACAAAGAACGTGCGGTGCTGCGGGCGAGGGCCCCGGCACGGACAAGGGCCACTGCAGAGTGTGTTTCTGCTCGTCAGCTGCCCTGGGCAGCGGATGGGCTGGGCGATGCAGCTGGATGCACATCTCATTCTGTCATGAATGTCCAGTAAAAATCTGAATTGGTTGCAACCTTCTCTTTGCTTCTGTTACTGGAAAATCATCTTTCAGAGCCCATTGTGAAGGGCCTGTGCATCCCATTCCCACAGCCCCTGGACCACTGGGGCCATAGTGTGGCCGGGCCTGACACTACTGTGACTGTCACTGTGCCTCCTGTCCCCATGCACTGTCTGGTGGCAGCTGAGCTCCCACCGGCTGCACAGGGCAGGCCTGGACATGGAACGGGCAACTCATAACCCTTGGTGGCCCTGGAGGCCCTCAGCAGCTGGGCCTGACCGAGGTGTATCCACGGGCCCCTCCTGTCCCTGTGGGTGTCGAGGACCTCGGATCCTGCTCAGAGGGGGAAACATACCTCTGACCCGCTGCCCTGCAGAGCCCGCCTGCCTAGCCAGGGCCTCTGTGTGGACAGGCCACGTCCTCCTGGTGGAGGTCCTCGGGGGATGGGTGGGGGCCTTGGTCCAGCATGATTTTTTTTTTTTGAGACAGGATCTCACTCTGTCACCCAGGCTGGAGTGCAGGGGTATAGTCACAGCTCAGTGCAGCCTCCACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGAGTACAGGTGTGAGCCATCATGCCCAGATAATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGTTCCGCCTCCCGGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAACTGGGACTACAGGTGTCCACCACCGTGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCTTCTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATCACAGGCATGAGCCACCGCACCCGGCCATGCCCAGATAATTTTTAAATTTTTTTTTTTGTAGAGATGAGGTGTCCCTGTGTTG
Task1_train_5866
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.
Pathogenic; Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
TTTGGATCCTGGATTGCTGGGACTGACCTTCTAGTTTTATCTTTTGTCTTTATTTTATATTCTCCTGTCTTACTTTCTATGAGAGTGCCTTAACTTCATCTCCCAGTCATTGTATAATACTGACAACTTCTGTGGTCTTGTAGAATTTCAAGAGGTCTTTCTTAGTATATTTCTTTGGAAAGCTTCCCGTTCATGTTTCAGATGGAAGATCTTTTATTTCTCTTAGGATATCTACTATAGTTATTTTGACAGTGTCTTTGTTTCCTCCGAGTGTTTTCTTTCAGGTTGGCTTTCCTTGAATTTGGGTGATGCTCTGTATCTGAGGGCTTTATTGTAGTTTTGCATGGGAAGTGTCAGCCAACTGGGACTCCCAGTCTAAGTCTCAGTAGGAGTTTTCATTAGGAGAAATCAGAGAAGAATACTCCAGTATTATGCCAGGGAATGAACCTGATTGTTAGCATCTTGAAACCAAGTAGGGAAAGGGATGAGGGTCATGTTAATTTTCACTTGAATCTTGTTTTCATTATGATGCTTCATTCCCATGAGCATCTGTGCCTGGTGCAACAAGTTCTGATTATTTTTGGTTGAACCTTTCTAGAGAATCAGTCCCTGGTTTTCTGCCTCATTAAGGGAGTCATTCTAGGTGGGTCTGATTATTTCTTAAAATGAGTTGCAAACAGTTTTCCTATTTCAAACCTTACCTTATTCTTTGCCTTCAGAGATACTTGTGCCTCAAATTCTTGAGTTCTGGAATTCTATAGTGAGAGATAGATGTAGCTTGTATTTAGAGAAGAGTATGTATCAAATTGAGAGAAATCCTACAACAGACTTCTGGTGATCGTTAACGGCTTTCACTTCCTAAATAAAGACATTCCTAACTCTTGGCACATAAAACACTTTATTCTCTACTCCTAAATGCTAATATGCTACCTGTCAGATATACTTTCTCTTTTACATATATTCCTCTTCCTCCACCGTGCCTTTGGTCATCTCTTCTCTTCATTTGAAGTTTTTCTACCACACCTGCATGTACAAACCCTGCTGCTTTTTCAAGGCTTGGCACAGACGCCACCCTAACATGAAGTTACTCAGCTTCCCCAGCTGGAGGTAGTCTGTCTTCCCAAGATAGAGGTAACTCTTTATTTTAATTTCTTTCTTTCTCTTTTGAGACAGGGTCTCACTCTGTTGCCTAGGCTGGAGTGCACAGTGTGATCTCGACTCACTGCAGCCTCTGCCTCCCGGGGTCTAGCGATCCTCCCACCTCAGCCTCCCAGGTAGCTAGGACCACAGGCATGCACCACCACACCTGGCTGGTTTTTTTGTATGTTTGGTAGAGATGGGGTTTTACCATCTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAAGTCATCTGCCTGCCTTGACCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCCCCAGCCTTTATTTTAATTTCACTGGGGATTATCAGTAAGGGAGTTGCAAGATCTGTTAACTGTACTTATTCTTTATCAGTCTTTCGCTCAATGGCAAATGTTCCATAAATTGACATTCACCTCTTTGCAAACTGGAGCTATTAAAAATATTTCTGATAATAGCTTGATTTGAAATTGAAGAACAGTTTTGAGTTTGATGTGGAGTTTCTCCACATCACTTGGCAGAGGTGACATGTTTGTGTGTTAAACTCATCTTTTTTAATCATGATGGATTTTTTTTAAAAAAATCAGTCTTTTGATCTGTTTTTGAATAATGTGGATATCTTTCTGTTTCAATGTTTAGGTATGGTAGTTGACGTTAAAAAGACTATAACTGTCAGGGCTTATAGTACCATCCCTTTATAAAGACAAAAACTTATTTTTTTCAATTCAGTAGTATGAAAACCTAATTTAAATGACAACAAAAACCCCATGTATTTAATTGCAGCTTCATGAAGAAAATTTTGAGATTACTACACTACGGATTGATGTCACCACTGATGGAAGACATGCTGAGGTAGAATTTACAACTGACTGGCAGAAAGATGCGGAACGCAGAGATCTCACTATAAATTCTATGTTTTTAGGTAATATTTGCAGATAAAACCATATTGTGAGTCTATCAGAATGCCTTCTTTTCAAGTAAAACCTACATTCTGGAAATGTTCTTCAACTTGAGAAGTTGCATTAATTTCTTCTAAGAGATGGTTTAGCAGATTGCTTCAAAGAATAGTCCCTCAGCCGGGCACGGTGGGTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCATGGGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATATAAAAAATTAGCCGGGCGTGGTGGCGGCTGCCTGTAGTCCCAGCTGTTAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGTCTGGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAGAATAGACTCTGGAGCCAAAATCCCTGGGTTCAAATTCTGACTCCGTCACTCACTAGCCACAAAACAAAAACGTTAATTAATATTGGCTTCCTTTGTACCGCTGTTGTGAGGTTTAAGAGAGTTAATTGTAAATGCTTAGAACAGTGCCTGACACATGTACACACTCAGTCAGTGCTAACTTCTTAACTGCATATAAACATGATTTCAGGGAAGAGAAGTGCACACACACATGGTACATGTACATACTCCACACACATCTACACACACACACACCCAGGATCATTCTTTTTCCTTTGCACTATCTTTCATGCATGTTTATTCAATCTTTCTTCTGCTTCCCTGGCAAACAATGGTGAATGACTTCAGCACTTTTTACTGCTGAGCCTACACACAACCTCAGATTCTTTTTTAGCATTGTATTCTAGGAATCATCAATAATCAGAGTTGGTATGTAAGATGAAACCTATTTATTTCAGCTTAACTTTTTTGTTTAATGAAAGCACTGGGAATTATATGGGGGCTAGATACGAATTAGGTTAGTGTTTTGATACATTACTGATGCATCATATGTTGTACTTTAAAGTTAAGACAAGCCCTTTATGTTTAAGATTTTGGATTAAAAAAGGATGAAACATCCACTGTTCATAACCTAGTTTGTAGCAATAGTAGTGGTAAAAGGATGAAGTAATAGGATTTGCTTCATGCATAGATGGGCAAGAAGTTTATAAGCTAAGGTGGCATCTCTTGCTGATTACAGTAATGACAGATACAATTTCTAGGGTACCTACTGGGTTCTAGGTACAACATTGGGTACCTGATATACTTTATTTCATTAAACTCTCAGAAAAACTTCATAAAGTATGTTAAGCCCACTTGATAGAAGAGGAAACTTGAGACTGAGAGATATTAAGTAACTTAGTTTAAGTCACAGAGAACCATGATTTTGGCTTGTTTCCAAGGCCTAGGCAATATATGACCATAGAGAGCCCAATTGGTGCATTTTTCTCTCAGTTAATGTAGTCAGAGCTCCAGGTATTTATTTATTCTCATATTTACTCATAGAGGAAGCTGCTCCAAATAGTGCAATATAGAGTCTTGTCTAACTGGCTTCTCATAAGCATACTGAAAGAGAGAAACTAATACTCTTTTTCAGTGTCCTAGTTTATAAAATAAAAGTTGTTCCTATTGGTACTATCATTTTCTGACATTTACTGAACCCTTATAACATGTCAGGCACTGTTCTGAGCACATTATGTAAATTTAATCTCCTGACAACCCTGCGAAGCAGATACTGCTATTTAACCGATGGTAACTTGCCCAAAGTTGCACAGCTTGTAAAGTGTAGGATCAGAATTCCAACTCAGGCAGCCTGACTCCAGAGGTCACATTCTTAACCACTACATTATTCCCTGCAACTCAACCATATTTCATATTTTTATTTACTGTATTTTAAAAGGATGATATTCAGAGCAAAACAAAATACACACCAGTATGATGCTTACTAAGCTTTGTGTAGTTTTCTATCCTGGCTTTTTCCAAGCCTTATTGGATCAAGCATTCATAGTTCTGGCATTTATGGTTGGTTACTTTGCTT
TTTGGATCCTGGATTGCTGGGACTGACCTTCTAGTTTTATCTTTTGTCTTTATTTTATATTCTCCTGTCTTACTTTCTATGAGAGTGCCTTAACTTCATCTCCCAGTCATTGTATAATACTGACAACTTCTGTGGTCTTGTAGAATTTCAAGAGGTCTTTCTTAGTATATTTCTTTGGAAAGCTTCCCGTTCATGTTTCAGATGGAAGATCTTTTATTTCTCTTAGGATATCTACTATAGTTATTTTGACAGTGTCTTTGTTTCCTCCGAGTGTTTTCTTTCAGGTTGGCTTTCCTTGAATTTGGGTGATGCTCTGTATCTGAGGGCTTTATTGTAGTTTTGCATGGGAAGTGTCAGCCAACTGGGACTCCCAGTCTAAGTCTCAGTAGGAGTTTTCATTAGGAGAAATCAGAGAAGAATACTCCAGTATTATGCCAGGGAATGAACCTGATTGTTAGCATCTTGAAACCAAGTAGGGAAAGGGATGAGGGTCATGTTAATTTTCACTTGAATCTTGTTTTCATTATGATGCTTCATTCCCATGAGCATCTGTGCCTGGTGCAACAAGTTCTGATTATTTTTGGTTGAACCTTTCTAGAGAATCAGTCCCTGGTTTTCTGCCTCATTAAGGGAGTCATTCTAGGTGGGTCTGATTATTTCTTAAAATGAGTTGCAAACAGTTTTCCTATTTCAAACCTTACCTTATTCTTTGCCTTCAGAGATACTTGTGCCTCAAATTCTTGAGTTCTGGAATTCTATAGTGAGAGATAGATGTAGCTTGTATTTAGAGAAGAGTATGTATCAAATTGAGAGAAATCCTACAACAGACTTCTGGTGATCGTTAACGGCTTTCACTTCCTAAATAAAGACATTCCTAACTCTTGGCACATAAAACACTTTATTCTCTACTCCTAAATGCTAATATGCTACCTGTCAGATATACTTTCTCTTTTACATATATTCCTCTTCCTCCACCGTGCCTTTGGTCATCTCTTCTCTTCATTTGAAGTTTTTCTACCACACCTGCATGTACAAACCCTGCTGCTTTTTCAAGGCTTGGCACAGACGCCACCCTAACATGAAGTTACTCAGCTTCCCCAGCTGGAGGTAGTCTGTCTTCCCAAGATAGAGGTAACTCTTTATTTTAATTTCTTTCTTTCTCTTTTGAGACAGGGTCTCACTCTGTTGCCTAGGCTGGAGTGCACAGTGTGATCTCGACTCACTGCAGCCTCTGCCTCCCGGGGTCTAGCGATCCTCCCACCTCAGCCTCCCAGGTAGCTAGGACCACAGGCATGCACCACCACACCTGGCTGGTTTTTTTGTATGTTTGGTAGAGATGGGGTTTTACCATCTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAAGTCATCTGCCTGCCTTGACCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCCCCAGCCTTTATTTTAATTTCACTGGGGATTATCAGTAAGGGAGTTGCAAGATCTGTTAACTGTACTTATTCTTTATCAGTCTTTCGCTCAATGGCAAATGTTCCATAAATTGACATTCACCTCTTTGCAAACTGGAGCTATTAAAAATATTTCTGATAATAGCTTGATTTGAAATTGAAGAACAGTTTTGAGTTTGATGTGGAGTTTCTCCACATCACTTGGCAGAGGTGACATGTTTGTGTGTTAAACTCATCTTTTTTAATCATGATGGATTTTTTTTAAAAAAATCAGTCTTTTGATCTGTTTTTGAATAATGTGGATATCTTTCTGTTTCAATGTTTAGGTATGGTAGTTGACGTTAAAAAGACTATAACTGTCAGGGCTTATAGTACCATCCCTTTATAAAGACAAAAACTTATTTTTTTCAATTCAGTAGTATGAAAACCTAATTTAAATGACAACAAAAACCCCATGTATTTAATTGCAGCTTCATGAAGAAAATTTTGAGATTACTACACTACGGATTGATGTCACCACTGATGGAAGACATGCTGAGGTAGAATTTACAACTGACTGGCAGAAAGATGCGGAACGCAGAGATCTCATTATAAATTCTATGTTTTTAGGTAATATTTGCAGATAAAACCATATTGTGAGTCTATCAGAATGCCTTCTTTTCAAGTAAAACCTACATTCTGGAAATGTTCTTCAACTTGAGAAGTTGCATTAATTTCTTCTAAGAGATGGTTTAGCAGATTGCTTCAAAGAATAGTCCCTCAGCCGGGCACGGTGGGTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCATGGGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATATAAAAAATTAGCCGGGCGTGGTGGCGGCTGCCTGTAGTCCCAGCTGTTAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGTCTGGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAGAATAGACTCTGGAGCCAAAATCCCTGGGTTCAAATTCTGACTCCGTCACTCACTAGCCACAAAACAAAAACGTTAATTAATATTGGCTTCCTTTGTACCGCTGTTGTGAGGTTTAAGAGAGTTAATTGTAAATGCTTAGAACAGTGCCTGACACATGTACACACTCAGTCAGTGCTAACTTCTTAACTGCATATAAACATGATTTCAGGGAAGAGAAGTGCACACACACATGGTACATGTACATACTCCACACACATCTACACACACACACACCCAGGATCATTCTTTTTCCTTTGCACTATCTTTCATGCATGTTTATTCAATCTTTCTTCTGCTTCCCTGGCAAACAATGGTGAATGACTTCAGCACTTTTTACTGCTGAGCCTACACACAACCTCAGATTCTTTTTTAGCATTGTATTCTAGGAATCATCAATAATCAGAGTTGGTATGTAAGATGAAACCTATTTATTTCAGCTTAACTTTTTTGTTTAATGAAAGCACTGGGAATTATATGGGGGCTAGATACGAATTAGGTTAGTGTTTTGATACATTACTGATGCATCATATGTTGTACTTTAAAGTTAAGACAAGCCCTTTATGTTTAAGATTTTGGATTAAAAAAGGATGAAACATCCACTGTTCATAACCTAGTTTGTAGCAATAGTAGTGGTAAAAGGATGAAGTAATAGGATTTGCTTCATGCATAGATGGGCAAGAAGTTTATAAGCTAAGGTGGCATCTCTTGCTGATTACAGTAATGACAGATACAATTTCTAGGGTACCTACTGGGTTCTAGGTACAACATTGGGTACCTGATATACTTTATTTCATTAAACTCTCAGAAAAACTTCATAAAGTATGTTAAGCCCACTTGATAGAAGAGGAAACTTGAGACTGAGAGATATTAAGTAACTTAGTTTAAGTCACAGAGAACCATGATTTTGGCTTGTTTCCAAGGCCTAGGCAATATATGACCATAGAGAGCCCAATTGGTGCATTTTTCTCTCAGTTAATGTAGTCAGAGCTCCAGGTATTTATTTATTCTCATATTTACTCATAGAGGAAGCTGCTCCAAATAGTGCAATATAGAGTCTTGTCTAACTGGCTTCTCATAAGCATACTGAAAGAGAGAAACTAATACTCTTTTTCAGTGTCCTAGTTTATAAAATAAAAGTTGTTCCTATTGGTACTATCATTTTCTGACATTTACTGAACCCTTATAACATGTCAGGCACTGTTCTGAGCACATTATGTAAATTTAATCTCCTGACAACCCTGCGAAGCAGATACTGCTATTTAACCGATGGTAACTTGCCCAAAGTTGCACAGCTTGTAAAGTGTAGGATCAGAATTCCAACTCAGGCAGCCTGACTCCAGAGGTCACATTCTTAACCACTACATTATTCCCTGCAACTCAACCATATTTCATATTTTTATTTACTGTATTTTAAAAGGATGATATTCAGAGCAAAACAAAATACACACCAGTATGATGCTTACTAAGCTTTGTGTAGTTTTCTATCCTGGCTTTTTCCAAGCCTTATTGGATCAAGCATTCATAGTTCTGGCATTTATGGTTGGTTACTTTGCTT
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
GCAAAACAAAATACACACCAGTATGATGCTTACTAAGCTTTGTGTAGTTTTCTATCCTGGCTTTTTCCAAGCCTTATTGGATCAAGCATTCATAGTTCTGGCATTTATGGTTGGTTACTTTGCTTCCCAAACGCTTATTTTTGCTTTGATCATATTCCTATGATTTTTTCCTCCAAATTTTGATCTTGCCTTTAGGTTCCCCAGGGACGGTTACAAGTCTCTTCATTAGGAGAAATAACACCAAGATGGATATACCATATTATTTGCTACTTTGTGATCATATTTTTGCCTATTTACATATTTTCTTTTTATCATTTTCTTTTATGTCTTTTTGAATCTGGAGCCTTCGAAATTTGCCATGTATGTCAAGATGGTTCCCTTTTAAAAGTTACTATGCATATAAAACTATTAACAGCTTGGAAAGAGTTAAGCATTAAGTGTGAACTTACCAATGTACTGTTGCTTTTGGGATAATCAGAGAACATTCAAGTTCAAACACAGCCAAGAGGTATTTTTGATAAGTAGTTGTCAGTGCCTCTTTTCTGTAATGCTACAGAGTGAAGTATCTCATAGATCACTGACCTCCCCATTTGGTGAGCTGAATGGTGTCTGTGTTTCGGCTCTAAATTCCTTTTTCTATTTTTTTAAGTCTCCATGGTAACCAACTGTCTTAGTTTGCCTGAGCTTGAAATACTTCCTTGGATGTATGATTTTCAACTTTAAAACTAGGAATGTCTCAGGCAAACCAGTATGAAGTGGTCACTCTACTAATTAATACTTGAGGTTTTATGTACATATATATAAAATTAGTTTTATGTCACTTTTTTCATTCAACATATGAGAACATTTGTTTATTACCATTTTTGTGAATGGCTAATAGATTAACATGGTTCAAAATTCACAAAGTTTTAAAGGCTCTACAGTGAAGTCTCCTGATCTGTAATGAACAGGACTGCCCATTTAACCACACCCTTGCTAACACTGTTATCAAGTGTTTGCATCGTTGCCGATCTGAAAGACGCTATCTTGGAAATGGGTATTTACTGGCCGGGCATGGTGGCTTATGCCTGTAACCCTAGCACTTTGGGAGGCTGAGGCATGCAGATCACTTGATGTCAGGAGTTCGAGACCAGCCTGGCCCACTTGCCGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGTGTGTAGTGGCAGGTCTACTTGGGAGGCTGAAGCAGGAGAATCACCTGAACCTGGGAGGCTGCAGTGAGCTGAGATTGCACCACTGCACTCCAACCAGGGTGACAAAGTGAGAATCCGCCTCAAAGAACAAAAAAAGGATTTATGACTAAGGTTGAAAATCTTCATTATTAAAGAGATTTCTATATTTCCTTTATAGGTAGCCTATTTTTCTATTTACGTGGCCTTTTTATTAGAACTTTTATATATTATGGAAATTAGCCATTTTTAAAATATGGACTTACATATATTTTTCCAAAAATGTCACTTATGACTTTGTGTGTGATAGTAGTTTCTGCCATACAGGCATATTTCATTTTTTATGTCATTCAATTATTTCTTCGAAAATCCTGTTGTTTTTGTGTTGCGTTTTCTGTTTTCTTGCTGAGTTTGAAAGATCTTCAAGATTATAAAGATTCCAAGATTAAAAATATTTTCCTCGTTTCTTCTGTTAATCCTGTTACGTATTTTTTCCATTTTATTTTGGCTATTATTTTCCCATATTGTGAAAATTAGCTTGTATGGTGTCTTGTTGGCTCCACTCCACCTCATACAAGTTTTGCATATTTCTTGTTTAGTTTATTCTTGGATTATCTTTTTAGTTGCAATTGTAAATGCAGCTAAACAGACTAAAAGACAGTCTTTTATTGTCTTCCATTTGATAGTTGATATGTATGAATACGTATGTGTTTTAATAACTGTTCACTCTGCTGAATTTTTACTGTTTGTGATAGTGTTTAGCTGATTTTCTTGTGTTTTCAAATTCTTATTTGCCAATAGTGATTTTTCTCCCTCCTTTTCTAATGAATAGGTTTTGATGGCACTTCATTTGACTACTTTAATGGTTATGAAGATTTAAAAAATAAGAAAGTTAGATTTGTTGGACATGCTAAACAGAGAATACAAGAGGATTATCTTAGAATTTTAAGATACTTCAGGTAAGAATTTTTAAAAATAAAAAATGATAGTTTTAATATCATGACTAGAGCATAACAGTGGTCATACGAAACCCACAGCAGGTCAGTGTACAAAATGGTGACATCCCAAATGTCTGTCTCCAGTGGAGACCTAGCACCCTATGACTTATGAGTGAAAATTACTTAGCTACTTCATATTGTATTTTCATTCCCAGAACGCACATATACTTTATGTCATCTTTCCTACAATTTTAAGTCATCTTTTTAAATGTCCATTTTTCTTTTTGATTGATATTTCCTCCATTGATTTATTAATTACACAGATGTTTGAATGCTTACCACAGGTCAATCCCTGTGTTAGGTGCATTAAACGTGGTAATGAACGAGTGAAAGTGTTCGCCTTCATACAGCTTACGGTTTTAGGTAGTCATGGAAATCGGTGATGGTTCACAACAAAATGATTTTGGTGAAAAGAAATACCTGTTATATGATTTAAAGAATCAAAGCATAAAGACATAATCGAAACTTGGATGGGCCGGGTGTGGTGGCTCACACCTGTAATCCCCGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATGAGACCATGCTGGCTAACATGGTGAAACCCCATTTCTACTAAAAATACAAAAAATTAGCCAGGCATGGCGGTGTGCGCCTGTAGTCCGAGCTACTCGGGAGGCTGAGGCAGGAGGATGGCGGGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACCGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGAAGATCTTGGATAAACTTGGTAAATATGAAACGCATGACTAGTTTTGTGGGTAGCAATGATGTTTAAATGTCACACACTAACCTTTTTAAAAAACTATCCGAATTGGCTAGTTTATGTCAAGTAATATTCATTTTTCACTGGTTGGGATTGCTCTCAGAATATTCTATAACAGAACATGGATATTTTGTCAATGTAGTTTCTCTAAACTTGAGTATTTGTAGTCTGTCTTATAAATAATAGAACATAGATTAAGACTTAGCTGTATTTGTATCACTAATCCAGATTTAGCATTAATTTACTTATTTAGCATCACTTTGGACCGCTGATGAATTCATTAGAATTTTAAGGGCATGAGAGGGAAACACATGCACGTTAGGGCTTCCAGTTCTAAGATTCCGCGAAATATACTCCAGGGTGCGCAACTAGATGAGTCGTATTTGAAGGTTTTCCTTGAAAGTACTAATGTGTACAGACAGGCAAGCTTTGAGGAATTCAGACTACTCTGTTAAGGCACTGCAGTCTTGTTTTGGTTTGCTGCCTTTACAAGAATGCTGTTTTTTTTTTCATCTAGTATAAGTGCCAATTCAGGAATTGCATTTGATGACCATTCGGAATGTCTTGAGTCAGTAATTTGGAAGTGAGGTGGAGACCTTGAAGTTTTAGTTCTTGCTAACCTCAAAAAGGCTACTTATATTTTATTCGATCCTGGGTTTTCTTATCTGGGAAAAGAAAGAGGAGGTGGAGAAATGACCAGTTGCTTTCTAAGGTCCCTTCTAGACCTAACTAATTATATGTTGTTTTCATTAAGCAGATGTATGGGATAGTACCAATAAAAATGAAAAACAGATTTTGCTTGTGATATGCCAATATAGAGGTAATACCCTGTGAAGATTTTGTCTTGTAGGTTTTATGGGAGAATTGTAGACAAACCTGGTGACCATGATCCTGAGACTTTGGAAGCAATTGCAGAAAATGCAAAAGGCTTGGCTGGAATATCAGGAGAAAGGATTTGGGTGGAACTGAAAAAAATTCTTGTTGGTAACCATGTAAATCATTTGATTCACCTTATCTATGATCTTGATGTGGCTCCTTATATAGGTGAGAGCAAGTTATAAAGTGTT
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
CTTATTGGATCAAGCATTCATAGTTCTGGCATTTATGGTTGGTTACTTTGCTTCCCAAACGCTTATTTTTGCTTTGATCATATTCCTATGATTTTTTCCTCCAAATTTTGATCTTGCCTTTAGGTTCCCCAGGGACGGTTACAAGTCTCTTCATTAGGAGAAATAACACCAAGATGGATATACCATATTATTTGCTACTTTGTGATCATATTTTTGCCTATTTACATATTTTCTTTTTATCATTTTCTTTTATGTCTTTTTGAATCTGGAGCCTTCGAAATTTGCCATGTATGTCAAGATGGTTCCCTTTTAAAAGTTACTATGCATATAAAACTATTAACAGCTTGGAAAGAGTTAAGCATTAAGTGTGAACTTACCAATGTACTGTTGCTTTTGGGATAATCAGAGAACATTCAAGTTCAAACACAGCCAAGAGGTATTTTTGATAAGTAGTTGTCAGTGCCTCTTTTCTGTAATGCTACAGAGTGAAGTATCTCATAGATCACTGACCTCCCCATTTGGTGAGCTGAATGGTGTCTGTGTTTCGGCTCTAAATTCCTTTTTCTATTTTTTTAAGTCTCCATGGTAACCAACTGTCTTAGTTTGCCTGAGCTTGAAATACTTCCTTGGATGTATGATTTTCAACTTTAAAACTAGGAATGTCTCAGGCAAACCAGTATGAAGTGGTCACTCTACTAATTAATACTTGAGGTTTTATGTACATATATATAAAATTAGTTTTATGTCACTTTTTTCATTCAACATATGAGAACATTTGTTTATTACCATTTTTGTGAATGGCTAATAGATTAACATGGTTCAAAATTCACAAAGTTTTAAAGGCTCTACAGTGAAGTCTCCTGATCTGTAATGAACAGGACTGCCCATTTAACCACACCCTTGCTAACACTGTTATCAAGTGTTTGCATCGTTGCCGATCTGAAAGACGCTATCTTGGAAATGGGTATTTACTGGCCGGGCATGGTGGCTTATGCCTGTAACCCTAGCACTTTGGGAGGCTGAGGCATGCAGATCACTTGATGTCAGGAGTTCGAGACCAGCCTGGCCCACTTGCCGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGTGTGTAGTGGCAGGTCTACTTGGGAGGCTGAAGCAGGAGAATCACCTGAACCTGGGAGGCTGCAGTGAGCTGAGATTGCACCACTGCACTCCAACCAGGGTGACAAAGTGAGAATCCGCCTCAAAGAACAAAAAAAGGATTTATGACTAAGGTTGAAAATCTTCATTATTAAAGAGATTTCTATATTTCCTTTATAGGTAGCCTATTTTTCTATTTACGTGGCCTTTTTATTAGAACTTTTATATATTATGGAAATTAGCCATTTTTAAAATATGGACTTACATATATTTTTCCAAAAATGTCACTTATGACTTTGTGTGTGATAGTAGTTTCTGCCATACAGGCATATTTCATTTTTTATGTCATTCAATTATTTCTTCGAAAATCCTGTTGTTTTTGTGTTGCGTTTTCTGTTTTCTTGCTGAGTTTGAAAGATCTTCAAGATTATAAAGATTCCAAGATTAAAAATATTTTCCTCGTTTCTTCTGTTAATCCTGTTACGTATTTTTTCCATTTTATTTTGGCTATTATTTTCCCATATTGTGAAAATTAGCTTGTATGGTGTCTTGTTGGCTCCACTCCACCTCATACAAGTTTTGCATATTTCTTGTTTAGTTTATTCTTGGATTATCTTTTTAGTTGCAATTGTAAATGCAGCTAAACAGACTAAAAGACAGTCTTTTATTGTCTTCCATTTGATAGTTGATATGTATGAATACGTATGTGTTTTAATAACTGTTCACTCTGCTGAATTTTTACTGTTTGTGATAGTGTTTAGCTGATTTTCTTGTGTTTTCAAATTCTTATTTGCCAATAGTGATTTTTCTCCCTCCTTTTCTAATGAATAGGTTTTGATGGCACTTTATTTGACTACTTTAATGGTTATGAAGATTTAAAAAATAAGAAAGTTAGATTTGTTGGACATGCTAAACAGAGAATACAAGAGGATTATCTTAGAATTTTAAGATACTTCAGGTAAGAATTTTTAAAAATAAAAAATGATAGTTTTAATATCATGACTAGAGCATAACAGTGGTCATACGAAACCCACAGCAGGTCAGTGTACAAAATGGTGACATCCCAAATGTCTGTCTCCAGTGGAGACCTAGCACCCTATGACTTATGAGTGAAAATTACTTAGCTACTTCATATTGTATTTTCATTCCCAGAACGCACATATACTTTATGTCATCTTTCCTACAATTTTAAGTCATCTTTTTAAATGTCCATTTTTCTTTTTGATTGATATTTCCTCCATTGATTTATTAATTACACAGATGTTTGAATGCTTACCACAGGTCAATCCCTGTGTTAGGTGCATTAAACGTGGTAATGAACGAGTGAAAGTGTTCGCCTTCATACAGCTTACGGTTTTAGGTAGTCATGGAAATCGGTGATGGTTCACAACAAAATGATTTTGGTGAAAAGAAATACCTGTTATATGATTTAAAGAATCAAAGCATAAAGACATAATCGAAACTTGGATGGGCCGGGTGTGGTGGCTCACACCTGTAATCCCCGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATGAGACCATGCTGGCTAACATGGTGAAACCCCATTTCTACTAAAAATACAAAAAATTAGCCAGGCATGGCGGTGTGCGCCTGTAGTCCGAGCTACTCGGGAGGCTGAGGCAGGAGGATGGCGGGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACCGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGAAGATCTTGGATAAACTTGGTAAATATGAAACGCATGACTAGTTTTGTGGGTAGCAATGATGTTTAAATGTCACACACTAACCTTTTTAAAAAACTATCCGAATTGGCTAGTTTATGTCAAGTAATATTCATTTTTCACTGGTTGGGATTGCTCTCAGAATATTCTATAACAGAACATGGATATTTTGTCAATGTAGTTTCTCTAAACTTGAGTATTTGTAGTCTGTCTTATAAATAATAGAACATAGATTAAGACTTAGCTGTATTTGTATCACTAATCCAGATTTAGCATTAATTTACTTATTTAGCATCACTTTGGACCGCTGATGAATTCATTAGAATTTTAAGGGCATGAGAGGGAAACACATGCACGTTAGGGCTTCCAGTTCTAAGATTCCGCGAAATATACTCCAGGGTGCGCAACTAGATGAGTCGTATTTGAAGGTTTTCCTTGAAAGTACTAATGTGTACAGACAGGCAAGCTTTGAGGAATTCAGACTACTCTGTTAAGGCACTGCAGTCTTGTTTTGGTTTGCTGCCTTTACAAGAATGCTGTTTTTTTTTTCATCTAGTATAAGTGCCAATTCAGGAATTGCATTTGATGACCATTCGGAATGTCTTGAGTCAGTAATTTGGAAGTGAGGTGGAGACCTTGAAGTTTTAGTTCTTGCTAACCTCAAAAAGGCTACTTATATTTTATTCGATCCTGGGTTTTCTTATCTGGGAAAAGAAAGAGGAGGTGGAGAAATGACCAGTTGCTTTCTAAGGTCCCTTCTAGACCTAACTAATTATATGTTGTTTTCATTAAGCAGATGTATGGGATAGTACCAATAAAAATGAAAAACAGATTTTGCTTGTGATATGCCAATATAGAGGTAATACCCTGTGAAGATTTTGTCTTGTAGGTTTTATGGGAGAATTGTAGACAAACCTGGTGACCATGATCCTGAGACTTTGGAAGCAATTGCAGAAAATGCAAAAGGCTTGGCTGGAATATCAGGAGAAAGGATTTGGGTGGAACTGAAAAAAATTCTTGTTGGTAACCATGTAAATCATTTGATTCACCTTATCTATGATCTTGATGTGGCTCCTTATATAGGTGAGAGCAAGTTATAAAGTGTTTGAATTTTTGGCAGTGAAATATCTGGTTTCAAATTTCATAAGGAAAAAATGTTTGACTCATTTGGTTGAAGA
CTTATTGGATCAAGCATTCATAGTTCTGGCATTTATGGTTGGTTACTTTGCTTCCCAAACGCTTATTTTTGCTTTGATCATATTCCTATGATTTTTTCCTCCAAATTTTGATCTTGCCTTTAGGTTCCCCAGGGACGGTTACAAGTCTCTTCATTAGGAGAAATAACACCAAGATGGATATACCATATTATTTGCTACTTTGTGATCATATTTTTGCCTATTTACATATTTTCTTTTTATCATTTTCTTTTATGTCTTTTTGAATCTGGAGCCTTCGAAATTTGCCATGTATGTCAAGATGGTTCCCTTTTAAAAGTTACTATGCATATAAAACTATTAACAGCTTGGAAAGAGTTAAGCATTAAGTGTGAACTTACCAATGTACTGTTGCTTTTGGGATAATCAGAGAACATTCAAGTTCAAACACAGCCAAGAGGTATTTTTGATAAGTAGTTGTCAGTGCCTCTTTTCTGTAATGCTACAGAGTGAAGTATCTCATAGATCACTGACCTCCCCATTTGGTGAGCTGAATGGTGTCTGTGTTTCGGCTCTAAATTCCTTTTTCTATTTTTTTAAGTCTCCATGGTAACCAACTGTCTTAGTTTGCCTGAGCTTGAAATACTTCCTTGGATGTATGATTTTCAACTTTAAAACTAGGAATGTCTCAGGCAAACCAGTATGAAGTGGTCACTCTACTAATTAATACTTGAGGTTTTATGTACATATATATAAAATTAGTTTTATGTCACTTTTTTCATTCAACATATGAGAACATTTGTTTATTACCATTTTTGTGAATGGCTAATAGATTAACATGGTTCAAAATTCACAAAGTTTTAAAGGCTCTACAGTGAAGTCTCCTGATCTGTAATGAACAGGACTGCCCATTTAACCACACCCTTGCTAACACTGTTATCAAGTGTTTGCATCGTTGCCGATCTGAAAGACGCTATCTTGGAAATGGGTATTTACTGGCCGGGCATGGTGGCTTATGCCTGTAACCCTAGCACTTTGGGAGGCTGAGGCATGCAGATCACTTGATGTCAGGAGTTCGAGACCAGCCTGGCCCACTTGCCGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGTGTGTAGTGGCAGGTCTACTTGGGAGGCTGAAGCAGGAGAATCACCTGAACCTGGGAGGCTGCAGTGAGCTGAGATTGCACCACTGCACTCCAACCAGGGTGACAAAGTGAGAATCCGCCTCAAAGAACAAAAAAAGGATTTATGACTAAGGTTGAAAATCTTCATTATTAAAGAGATTTCTATATTTCCTTTATAGGTAGCCTATTTTTCTATTTACGTGGCCTTTTTATTAGAACTTTTATATATTATGGAAATTAGCCATTTTTAAAATATGGACTTACATATATTTTTCCAAAAATGTCACTTATGACTTTGTGTGTGATAGTAGTTTCTGCCATACAGGCATATTTCATTTTTTATGTCATTCAATTATTTCTTCGAAAATCCTGTTGTTTTTGTGTTGCGTTTTCTGTTTTCTTGCTGAGTTTGAAAGATCTTCAAGATTATAAAGATTCCAAGATTAAAAATATTTTCCTCGTTTCTTCTGTTAATCCTGTTACGTATTTTTTCCATTTTATTTTGGCTATTATTTTCCCATATTGTGAAAATTAGCTTGTATGGTGTCTTGTTGGCTCCACTCCACCTCATACAAGTTTTGCATATTTCTTGTTTAGTTTATTCTTGGATTATCTTTTTAGTTGCAATTGTAAATGCAGCTAAACAGACTAAAAGACAGTCTTTTATTGTCTTCCATTTGATAGTTGATATGTATGAATACGTATGTGTTTTAATAACTGTTCACTCTGCTGAATTTTTACTGTTTGTGATAGTGTTTAGCTGATTTTCTTGTGTTTTCAAATTCTTATTTGCCAATAGTGATTTTTCTCCCTCCTTTTCTAATGAATAGGTTTTGATGGCACTTTATTTGACTACTTTAATGGTTATGAAGATTTAAAAAATAAGAAAGTTAGATTTGTTGGACATGCTAAACAGATAATACAAGAGGATTATCTTAGAATTTTAAGATACTTCAGGTAAGAATTTTTAAAAATAAAAAATGATAGTTTTAATATCATGACTAGAGCATAACAGTGGTCATACGAAACCCACAGCAGGTCAGTGTACAAAATGGTGACATCCCAAATGTCTGTCTCCAGTGGAGACCTAGCACCCTATGACTTATGAGTGAAAATTACTTAGCTACTTCATATTGTATTTTCATTCCCAGAACGCACATATACTTTATGTCATCTTTCCTACAATTTTAAGTCATCTTTTTAAATGTCCATTTTTCTTTTTGATTGATATTTCCTCCATTGATTTATTAATTACACAGATGTTTGAATGCTTACCACAGGTCAATCCCTGTGTTAGGTGCATTAAACGTGGTAATGAACGAGTGAAAGTGTTCGCCTTCATACAGCTTACGGTTTTAGGTAGTCATGGAAATCGGTGATGGTTCACAACAAAATGATTTTGGTGAAAAGAAATACCTGTTATATGATTTAAAGAATCAAAGCATAAAGACATAATCGAAACTTGGATGGGCCGGGTGTGGTGGCTCACACCTGTAATCCCCGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATGAGACCATGCTGGCTAACATGGTGAAACCCCATTTCTACTAAAAATACAAAAAATTAGCCAGGCATGGCGGTGTGCGCCTGTAGTCCGAGCTACTCGGGAGGCTGAGGCAGGAGGATGGCGGGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACCGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGAAGATCTTGGATAAACTTGGTAAATATGAAACGCATGACTAGTTTTGTGGGTAGCAATGATGTTTAAATGTCACACACTAACCTTTTTAAAAAACTATCCGAATTGGCTAGTTTATGTCAAGTAATATTCATTTTTCACTGGTTGGGATTGCTCTCAGAATATTCTATAACAGAACATGGATATTTTGTCAATGTAGTTTCTCTAAACTTGAGTATTTGTAGTCTGTCTTATAAATAATAGAACATAGATTAAGACTTAGCTGTATTTGTATCACTAATCCAGATTTAGCATTAATTTACTTATTTAGCATCACTTTGGACCGCTGATGAATTCATTAGAATTTTAAGGGCATGAGAGGGAAACACATGCACGTTAGGGCTTCCAGTTCTAAGATTCCGCGAAATATACTCCAGGGTGCGCAACTAGATGAGTCGTATTTGAAGGTTTTCCTTGAAAGTACTAATGTGTACAGACAGGCAAGCTTTGAGGAATTCAGACTACTCTGTTAAGGCACTGCAGTCTTGTTTTGGTTTGCTGCCTTTACAAGAATGCTGTTTTTTTTTTCATCTAGTATAAGTGCCAATTCAGGAATTGCATTTGATGACCATTCGGAATGTCTTGAGTCAGTAATTTGGAAGTGAGGTGGAGACCTTGAAGTTTTAGTTCTTGCTAACCTCAAAAAGGCTACTTATATTTTATTCGATCCTGGGTTTTCTTATCTGGGAAAAGAAAGAGGAGGTGGAGAAATGACCAGTTGCTTTCTAAGGTCCCTTCTAGACCTAACTAATTATATGTTGTTTTCATTAAGCAGATGTATGGGATAGTACCAATAAAAATGAAAAACAGATTTTGCTTGTGATATGCCAATATAGAGGTAATACCCTGTGAAGATTTTGTCTTGTAGGTTTTATGGGAGAATTGTAGACAAACCTGGTGACCATGATCCTGAGACTTTGGAAGCAATTGCAGAAAATGCAAAAGGCTTGGCTGGAATATCAGGAGAAAGGATTTGGGTGGAACTGAAAAAAATTCTTGTTGGTAACCATGTAAATCATTTGATTCACCTTATCTATGATCTTGATGTGGCTCCTTATATAGGTGAGAGCAAGTTATAAAGTGTTTGAATTTTTGGCAGTGAAATATCTGGTTTCAAATTTCATAAGGAAAAAATGTTTGACTCATTTGGTTGAAGA
Task1_train_5869
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?
Pathogenic; TRNT1-related disorder
ATATGTATGAATACGTATGTGTTTTAATAACTGTTCACTCTGCTGAATTTTTACTGTTTGTGATAGTGTTTAGCTGATTTTCTTGTGTTTTCAAATTCTTATTTGCCAATAGTGATTTTTCTCCCTCCTTTTCTAATGAATAGGTTTTGATGGCACTTTATTTGACTACTTTAATGGTTATGAAGATTTAAAAAATAAGAAAGTTAGATTTGTTGGACATGCTAAACAGAGAATACAAGAGGATTATCTTAGAATTTTAAGATACTTCAGGTAAGAATTTTTAAAAATAAAAAATGATAGTTTTAATATCATGACTAGAGCATAACAGTGGTCATACGAAACCCACAGCAGGTCAGTGTACAAAATGGTGACATCCCAAATGTCTGTCTCCAGTGGAGACCTAGCACCCTATGACTTATGAGTGAAAATTACTTAGCTACTTCATATTGTATTTTCATTCCCAGAACGCACATATACTTTATGTCATCTTTCCTACAATTTTAAGTCATCTTTTTAAATGTCCATTTTTCTTTTTGATTGATATTTCCTCCATTGATTTATTAATTACACAGATGTTTGAATGCTTACCACAGGTCAATCCCTGTGTTAGGTGCATTAAACGTGGTAATGAACGAGTGAAAGTGTTCGCCTTCATACAGCTTACGGTTTTAGGTAGTCATGGAAATCGGTGATGGTTCACAACAAAATGATTTTGGTGAAAAGAAATACCTGTTATATGATTTAAAGAATCAAAGCATAAAGACATAATCGAAACTTGGATGGGCCGGGTGTGGTGGCTCACACCTGTAATCCCCGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATGAGACCATGCTGGCTAACATGGTGAAACCCCATTTCTACTAAAAATACAAAAAATTAGCCAGGCATGGCGGTGTGCGCCTGTAGTCCGAGCTACTCGGGAGGCTGAGGCAGGAGGATGGCGGGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACCGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGAAGATCTTGGATAAACTTGGTAAATATGAAACGCATGACTAGTTTTGTGGGTAGCAATGATGTTTAAATGTCACACACTAACCTTTTTAAAAAACTATCCGAATTGGCTAGTTTATGTCAAGTAATATTCATTTTTCACTGGTTGGGATTGCTCTCAGAATATTCTATAACAGAACATGGATATTTTGTCAATGTAGTTTCTCTAAACTTGAGTATTTGTAGTCTGTCTTATAAATAATAGAACATAGATTAAGACTTAGCTGTATTTGTATCACTAATCCAGATTTAGCATTAATTTACTTATTTAGCATCACTTTGGACCGCTGATGAATTCATTAGAATTTTAAGGGCATGAGAGGGAAACACATGCACGTTAGGGCTTCCAGTTCTAAGATTCCGCGAAATATACTCCAGGGTGCGCAACTAGATGAGTCGTATTTGAAGGTTTTCCTTGAAAGTACTAATGTGTACAGACAGGCAAGCTTTGAGGAATTCAGACTACTCTGTTAAGGCACTGCAGTCTTGTTTTGGTTTGCTGCCTTTACAAGAATGCTGTTTTTTTTTTCATCTAGTATAAGTGCCAATTCAGGAATTGCATTTGATGACCATTCGGAATGTCTTGAGTCAGTAATTTGGAAGTGAGGTGGAGACCTTGAAGTTTTAGTTCTTGCTAACCTCAAAAAGGCTACTTATATTTTATTCGATCCTGGGTTTTCTTATCTGGGAAAAGAAAGAGGAGGTGGAGAAATGACCAGTTGCTTTCTAAGGTCCCTTCTAGACCTAACTAATTATATGTTGTTTTCATTAAGCAGATGTATGGGATAGTACCAATAAAAATGAAAAACAGATTTTGCTTGTGATATGCCAATATAGAGGTAATACCCTGTGAAGATTTTGTCTTGTAGGTTTTATGGGAGAATTGTAGACAAACCTGGTGACCATGATCCTGAGACTTTGGAAGCAATTGCAGAAAATGCAAAAGGCTTGGCTGGAATATCAGGAGAAAGGATTTGGGTGGAACTGAAAAAAATTCTTGTTGGTAACCATGTAAATCATTTGATTCACCTTATCTATGATCTTGATGTGGCTCCTTATATAGGTGAGAGCAAGTTATAAAGTGTTTGAATTTTTGGCAGTGAAATATCTGGTTTCAAATTTCATAAGGAAAAAATGTTTGACTCATTTGGTTGAAGAATTCTTGGAGAAATGGAGTATTTTAAAATAAGACAAAGTTTGGGTTATGGGGTAAGTTTTGTCGTGAGTAGGGAAGAGCTCAAAGACAGCTTGTGGTGCTTGTAGAGTAGTCTCTAGTCAGACCTAGGTTTGAAGGAAGCTCAGCCCCTTATCTAGTCTTTGCAACTTGGGTTAGTTTCTAACCCAAAAAAGCGGTTTAAAAGTAATGTAGCCTCTATCTAATAGGAAAGCTAAAAGGATTCAGTGAGTTAATACATGTAAAGCTCTTTTAGAAGAGTGACTTGTACACAGAAATTGTTCAGTAAACGTTGTAATTCATTTTCACAGAGAATAGTGGGATTATATGGTTTATCACACTTCGGTAAGCTTGGGCATATTTCAAATTTCAGTAACATTACTGAATGGGGGGTGGATCTTGTATCAGTGTAAAGTCAGGAATTTGTGATTAGAAAGAGTATGCCTTGTGAGTCTGACACCACTGTCACCACTACCCCTGGAACTCTTGATGTAGCTTTAATGGAAACAAGAACATTTTAGAGGTTTTGAAGGTGACAGGGGAGAGAATAACAATATATTAGTGGTTCGCCTTTAAGTTGGAACATCAGACTGAACCTATATAATGTATCCTAGTGACAAAGCATTTCTGGATACTAAAATGGTGGCAAGGTTTAGGATATGAGTGGTTTTTTATCCCCACTAAAAACAGGTGAAAAATGCTTTTGTCCCTACAGGTTTACCTGCTAATGCAAGTTTAGAAGAATTTGACAAAGTCAGTAAAAATGTTGATGGTTTTTCACCAAAGCCAGTGACTCTTTTGGCCTCATTATTCAAAGTACAAGATGATGTCACAAAATTGGATTTGAGGTTGAAGATCGCAAAAGAGGAGAAAAACCTTGGCTTATTTATAGTTAAAAATAGGAAAGATTTAATTAAAGCAACAGATAGTTCAGACCCATTGAAACCCTATCAAGACTTCATTATAGATGTAAGTATATACTAGGCTTGGTCAGAAATATGAAGTATCGTCACGAATTTAGAATTAATTTATTAAAACTAAGATCTACAAATCTGTGAATTTTACTTATTTTAAATGAAAAAATTTATGTTGAGTATTTAAATTTTAGGATAAGATTGTAAGTGTATGTTTTCATGTGTGACGAAACTAAATGTTTGATTTTGACACGTAGTCTAGGGAACCTGATGCAACTACTCGTGTATGTGAACTACTGAAGTACCAAGGAGAGCACTGTCTCCTAAAGGAAATGCAGCAGTGGTCCATTCCTCCATTTCCTGTAAGTGGCCATGACATCAGAAAAGTGGGCATTTCTTCAGGAAAAGAAATTGGGGCTCTATTACAACAGTTGCGAGAACAGTGGAAAAAAAGTGGTTACCAAATGGAAAAAGATGAACTTCTGAGTTACATAAAGAAGACCTAAAACTGATGGCTACTAAAAAGCAGAGCATTTCTGGTAAGACTAAATTTTCTCCCCTCCCTCTTAATGAGGTTTTAGAGACTACACCAGAATAAAAGACAGTTTAGGGGACCTCTGTAGAACAACAAGGGTCTTATTTTGTGAATTATATATTTCAAGAACTAAACAGAGATCCACCTTTCTGGATCTGATTTATATCACTGAAATGTACAGTTCTTTTGGAATAGTTTCACCTGAGAAAACATAGTTGGCTATTATCTATCTTAACCTGTTCAGGCTTTTAAAAAAAACTGTTTTTGCATAGGGTAGTACTAAGATCTTAAAAAGTGGTAACTGTCTTGAAGAAAAAACGTTTATTGTTTGTTTGCAATTGAAATAACAGGGT
ATATGTATGAATACGTATGTGTTTTAATAACTGTTCACTCTGCTGAATTTTTACTGTTTGTGATAGTGTTTAGCTGATTTTCTTGTGTTTTCAAATTCTTATTTGCCAATAGTGATTTTTCTCCCTCCTTTTCTAATGAATAGGTTTTGATGGCACTTTATTTGACTACTTTAATGGTTATGAAGATTTAAAAAATAAGAAAGTTAGATTTGTTGGACATGCTAAACAGAGAATACAAGAGGATTATCTTAGAATTTTAAGATACTTCAGGTAAGAATTTTTAAAAATAAAAAATGATAGTTTTAATATCATGACTAGAGCATAACAGTGGTCATACGAAACCCACAGCAGGTCAGTGTACAAAATGGTGACATCCCAAATGTCTGTCTCCAGTGGAGACCTAGCACCCTATGACTTATGAGTGAAAATTACTTAGCTACTTCATATTGTATTTTCATTCCCAGAACGCACATATACTTTATGTCATCTTTCCTACAATTTTAAGTCATCTTTTTAAATGTCCATTTTTCTTTTTGATTGATATTTCCTCCATTGATTTATTAATTACACAGATGTTTGAATGCTTACCACAGGTCAATCCCTGTGTTAGGTGCATTAAACGTGGTAATGAACGAGTGAAAGTGTTCGCCTTCATACAGCTTACGGTTTTAGGTAGTCATGGAAATCGGTGATGGTTCACAACAAAATGATTTTGGTGAAAAGAAATACCTGTTATATGATTTAAAGAATCAAAGCATAAAGACATAATCGAAACTTGGATGGGCCGGGTGTGGTGGCTCACACCTGTAATCCCCGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATGAGACCATGCTGGCTAACATGGTGAAACCCCATTTCTACTAAAAATACAAAAAATTAGCCAGGCATGGCGGTGTGCGCCTGTAGTCCGAGCTACTCGGGAGGCTGAGGCAGGAGGATGGCGGGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACCGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGAAGATCTTGGATAAACTTGGTAAATATGAAACGCATGACTAGTTTTGTGGGTAGCAATGATGTTTAAATGTCACACACTAACCTTTTTAAAAAACTATCCGAATTGGCTAGTTTATGTCAAGTAATATTCATTTTTCACTGGTTGGGATTGCTCTCAGAATATTCTATAACAGAACATGGATATTTTGTCAATGTAGTTTCTCTAAACTTGAGTATTTGTAGTCTGTCTTATAAATAATAGAACATAGATTAAGACTTAGCTGTATTTGTATCACTAATCCAGATTTAGCATTAATTTACTTATTTAGCATCACTTTGGACCGCTGATGAATTCATTAGAATTTTAAGGGCATGAGAGGGAAACACATGCACGTTAGGGCTTCCAGTTCTAAGATTCCGCGAAATATACTCCAGGGTGCGCAACTAGATGAGTCGTATTTGAAGGTTTTCCTTGAAAGTACTAATGTGTACAGACAGGCAAGCTTTGAGGAATTCAGACTACTCTGTTAAGGCACTGCAGTCTTGTTTTGGTTTGCTGCCTTTACAAGAATGCTGTTTTTTTTTTCATCTAGTATAAGTGCCAATTCAGGAATTGCATTTGATGACCATTCGGAATGTCTTGAGTCAGTAATTTGGAAGTGAGGTGGAGACCTTGAAGTTTTAGTTCTTGCTAACCTCAAAAAGGCTACTTATATTTTATTCGATCCTGGGTTTTCTTATCTGGGAAAAGAAAGAGGAGGTGGAGAAATGACCAGTTGCTTTCTAAGGTCCCTTCTAGACCTAACTAATTATATGTTGTTTTCATTAAGCAGATGTATGGGATAGTACCAATAAAAATGAAAAACAGATTTTGCTTGTGATATGCCAATATAGAGGTAATACCCTGTGAAGATTTTGTCTTGTAGGTTTTATGGGAGAATTGTAGACAAACCTGGTGACCATGATCCTGAGACTTTGGAAGCAACTGCAGAAAATGCAAAAGGCTTGGCTGGAATATCAGGAGAAAGGATTTGGGTGGAACTGAAAAAAATTCTTGTTGGTAACCATGTAAATCATTTGATTCACCTTATCTATGATCTTGATGTGGCTCCTTATATAGGTGAGAGCAAGTTATAAAGTGTTTGAATTTTTGGCAGTGAAATATCTGGTTTCAAATTTCATAAGGAAAAAATGTTTGACTCATTTGGTTGAAGAATTCTTGGAGAAATGGAGTATTTTAAAATAAGACAAAGTTTGGGTTATGGGGTAAGTTTTGTCGTGAGTAGGGAAGAGCTCAAAGACAGCTTGTGGTGCTTGTAGAGTAGTCTCTAGTCAGACCTAGGTTTGAAGGAAGCTCAGCCCCTTATCTAGTCTTTGCAACTTGGGTTAGTTTCTAACCCAAAAAAGCGGTTTAAAAGTAATGTAGCCTCTATCTAATAGGAAAGCTAAAAGGATTCAGTGAGTTAATACATGTAAAGCTCTTTTAGAAGAGTGACTTGTACACAGAAATTGTTCAGTAAACGTTGTAATTCATTTTCACAGAGAATAGTGGGATTATATGGTTTATCACACTTCGGTAAGCTTGGGCATATTTCAAATTTCAGTAACATTACTGAATGGGGGGTGGATCTTGTATCAGTGTAAAGTCAGGAATTTGTGATTAGAAAGAGTATGCCTTGTGAGTCTGACACCACTGTCACCACTACCCCTGGAACTCTTGATGTAGCTTTAATGGAAACAAGAACATTTTAGAGGTTTTGAAGGTGACAGGGGAGAGAATAACAATATATTAGTGGTTCGCCTTTAAGTTGGAACATCAGACTGAACCTATATAATGTATCCTAGTGACAAAGCATTTCTGGATACTAAAATGGTGGCAAGGTTTAGGATATGAGTGGTTTTTTATCCCCACTAAAAACAGGTGAAAAATGCTTTTGTCCCTACAGGTTTACCTGCTAATGCAAGTTTAGAAGAATTTGACAAAGTCAGTAAAAATGTTGATGGTTTTTCACCAAAGCCAGTGACTCTTTTGGCCTCATTATTCAAAGTACAAGATGATGTCACAAAATTGGATTTGAGGTTGAAGATCGCAAAAGAGGAGAAAAACCTTGGCTTATTTATAGTTAAAAATAGGAAAGATTTAATTAAAGCAACAGATAGTTCAGACCCATTGAAACCCTATCAAGACTTCATTATAGATGTAAGTATATACTAGGCTTGGTCAGAAATATGAAGTATCGTCACGAATTTAGAATTAATTTATTAAAACTAAGATCTACAAATCTGTGAATTTTACTTATTTTAAATGAAAAAATTTATGTTGAGTATTTAAATTTTAGGATAAGATTGTAAGTGTATGTTTTCATGTGTGACGAAACTAAATGTTTGATTTTGACACGTAGTCTAGGGAACCTGATGCAACTACTCGTGTATGTGAACTACTGAAGTACCAAGGAGAGCACTGTCTCCTAAAGGAAATGCAGCAGTGGTCCATTCCTCCATTTCCTGTAAGTGGCCATGACATCAGAAAAGTGGGCATTTCTTCAGGAAAAGAAATTGGGGCTCTATTACAACAGTTGCGAGAACAGTGGAAAAAAAGTGGTTACCAAATGGAAAAAGATGAACTTCTGAGTTACATAAAGAAGACCTAAAACTGATGGCTACTAAAAAGCAGAGCATTTCTGGTAAGACTAAATTTTCTCCCCTCCCTCTTAATGAGGTTTTAGAGACTACACCAGAATAAAAGACAGTTTAGGGGACCTCTGTAGAACAACAAGGGTCTTATTTTGTGAATTATATATTTCAAGAACTAAACAGAGATCCACCTTTCTGGATCTGATTTATATCACTGAAATGTACAGTTCTTTTGGAATAGTTTCACCTGAGAAAACATAGTTGGCTATTATCTATCTTAACCTGTTCAGGCTTTTAAAAAAAACTGTTTTTGCATAGGGTAGTACTAAGATCTTAAAAAGTGGTAACTGTCTTGAAGAAAAAACGTTTATTGTTTGTTTGCAATTGAAATAACAGGGT
Task1_train_5870
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.
Pathogenic; Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
ATATGTATGAATACGTATGTGTTTTAATAACTGTTCACTCTGCTGAATTTTTACTGTTTGTGATAGTGTTTAGCTGATTTTCTTGTGTTTTCAAATTCTTATTTGCCAATAGTGATTTTTCTCCCTCCTTTTCTAATGAATAGGTTTTGATGGCACTTTATTTGACTACTTTAATGGTTATGAAGATTTAAAAAATAAGAAAGTTAGATTTGTTGGACATGCTAAACAGAGAATACAAGAGGATTATCTTAGAATTTTAAGATACTTCAGGTAAGAATTTTTAAAAATAAAAAATGATAGTTTTAATATCATGACTAGAGCATAACAGTGGTCATACGAAACCCACAGCAGGTCAGTGTACAAAATGGTGACATCCCAAATGTCTGTCTCCAGTGGAGACCTAGCACCCTATGACTTATGAGTGAAAATTACTTAGCTACTTCATATTGTATTTTCATTCCCAGAACGCACATATACTTTATGTCATCTTTCCTACAATTTTAAGTCATCTTTTTAAATGTCCATTTTTCTTTTTGATTGATATTTCCTCCATTGATTTATTAATTACACAGATGTTTGAATGCTTACCACAGGTCAATCCCTGTGTTAGGTGCATTAAACGTGGTAATGAACGAGTGAAAGTGTTCGCCTTCATACAGCTTACGGTTTTAGGTAGTCATGGAAATCGGTGATGGTTCACAACAAAATGATTTTGGTGAAAAGAAATACCTGTTATATGATTTAAAGAATCAAAGCATAAAGACATAATCGAAACTTGGATGGGCCGGGTGTGGTGGCTCACACCTGTAATCCCCGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATGAGACCATGCTGGCTAACATGGTGAAACCCCATTTCTACTAAAAATACAAAAAATTAGCCAGGCATGGCGGTGTGCGCCTGTAGTCCGAGCTACTCGGGAGGCTGAGGCAGGAGGATGGCGGGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACCGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGAAGATCTTGGATAAACTTGGTAAATATGAAACGCATGACTAGTTTTGTGGGTAGCAATGATGTTTAAATGTCACACACTAACCTTTTTAAAAAACTATCCGAATTGGCTAGTTTATGTCAAGTAATATTCATTTTTCACTGGTTGGGATTGCTCTCAGAATATTCTATAACAGAACATGGATATTTTGTCAATGTAGTTTCTCTAAACTTGAGTATTTGTAGTCTGTCTTATAAATAATAGAACATAGATTAAGACTTAGCTGTATTTGTATCACTAATCCAGATTTAGCATTAATTTACTTATTTAGCATCACTTTGGACCGCTGATGAATTCATTAGAATTTTAAGGGCATGAGAGGGAAACACATGCACGTTAGGGCTTCCAGTTCTAAGATTCCGCGAAATATACTCCAGGGTGCGCAACTAGATGAGTCGTATTTGAAGGTTTTCCTTGAAAGTACTAATGTGTACAGACAGGCAAGCTTTGAGGAATTCAGACTACTCTGTTAAGGCACTGCAGTCTTGTTTTGGTTTGCTGCCTTTACAAGAATGCTGTTTTTTTTTTCATCTAGTATAAGTGCCAATTCAGGAATTGCATTTGATGACCATTCGGAATGTCTTGAGTCAGTAATTTGGAAGTGAGGTGGAGACCTTGAAGTTTTAGTTCTTGCTAACCTCAAAAAGGCTACTTATATTTTATTCGATCCTGGGTTTTCTTATCTGGGAAAAGAAAGAGGAGGTGGAGAAATGACCAGTTGCTTTCTAAGGTCCCTTCTAGACCTAACTAATTATATGTTGTTTTCATTAAGCAGATGTATGGGATAGTACCAATAAAAATGAAAAACAGATTTTGCTTGTGATATGCCAATATAGAGGTAATACCCTGTGAAGATTTTGTCTTGTAGGTTTTATGGGAGAATTGTAGACAAACCTGGTGACCATGATCCTGAGACTTTGGAAGCAATTGCAGAAAATGCAAAAGGCTTGGCTGGAATATCAGGAGAAAGGATTTGGGTGGAACTGAAAAAAATTCTTGTTGGTAACCATGTAAATCATTTGATTCACCTTATCTATGATCTTGATGTGGCTCCTTATATAGGTGAGAGCAAGTTATAAAGTGTTTGAATTTTTGGCAGTGAAATATCTGGTTTCAAATTTCATAAGGAAAAAATGTTTGACTCATTTGGTTGAAGAATTCTTGGAGAAATGGAGTATTTTAAAATAAGACAAAGTTTGGGTTATGGGGTAAGTTTTGTCGTGAGTAGGGAAGAGCTCAAAGACAGCTTGTGGTGCTTGTAGAGTAGTCTCTAGTCAGACCTAGGTTTGAAGGAAGCTCAGCCCCTTATCTAGTCTTTGCAACTTGGGTTAGTTTCTAACCCAAAAAAGCGGTTTAAAAGTAATGTAGCCTCTATCTAATAGGAAAGCTAAAAGGATTCAGTGAGTTAATACATGTAAAGCTCTTTTAGAAGAGTGACTTGTACACAGAAATTGTTCAGTAAACGTTGTAATTCATTTTCACAGAGAATAGTGGGATTATATGGTTTATCACACTTCGGTAAGCTTGGGCATATTTCAAATTTCAGTAACATTACTGAATGGGGGGTGGATCTTGTATCAGTGTAAAGTCAGGAATTTGTGATTAGAAAGAGTATGCCTTGTGAGTCTGACACCACTGTCACCACTACCCCTGGAACTCTTGATGTAGCTTTAATGGAAACAAGAACATTTTAGAGGTTTTGAAGGTGACAGGGGAGAGAATAACAATATATTAGTGGTTCGCCTTTAAGTTGGAACATCAGACTGAACCTATATAATGTATCCTAGTGACAAAGCATTTCTGGATACTAAAATGGTGGCAAGGTTTAGGATATGAGTGGTTTTTTATCCCCACTAAAAACAGGTGAAAAATGCTTTTGTCCCTACAGGTTTACCTGCTAATGCAAGTTTAGAAGAATTTGACAAAGTCAGTAAAAATGTTGATGGTTTTTCACCAAAGCCAGTGACTCTTTTGGCCTCATTATTCAAAGTACAAGATGATGTCACAAAATTGGATTTGAGGTTGAAGATCGCAAAAGAGGAGAAAAACCTTGGCTTATTTATAGTTAAAAATAGGAAAGATTTAATTAAAGCAACAGATAGTTCAGACCCATTGAAACCCTATCAAGACTTCATTATAGATGTAAGTATATACTAGGCTTGGTCAGAAATATGAAGTATCGTCACGAATTTAGAATTAATTTATTAAAACTAAGATCTACAAATCTGTGAATTTTACTTATTTTAAATGAAAAAATTTATGTTGAGTATTTAAATTTTAGGATAAGATTGTAAGTGTATGTTTTCATGTGTGACGAAACTAAATGTTTGATTTTGACACGTAGTCTAGGGAACCTGATGCAACTACTCGTGTATGTGAACTACTGAAGTACCAAGGAGAGCACTGTCTCCTAAAGGAAATGCAGCAGTGGTCCATTCCTCCATTTCCTGTAAGTGGCCATGACATCAGAAAAGTGGGCATTTCTTCAGGAAAAGAAATTGGGGCTCTATTACAACAGTTGCGAGAACAGTGGAAAAAAAGTGGTTACCAAATGGAAAAAGATGAACTTCTGAGTTACATAAAGAAGACCTAAAACTGATGGCTACTAAAAAGCAGAGCATTTCTGGTAAGACTAAATTTTCTCCCCTCCCTCTTAATGAGGTTTTAGAGACTACACCAGAATAAAAGACAGTTTAGGGGACCTCTGTAGAACAACAAGGGTCTTATTTTGTGAATTATATATTTCAAGAACTAAACAGAGATCCACCTTTCTGGATCTGATTTATATCACTGAAATGTACAGTTCTTTTGGAATAGTTTCACCTGAGAAAACATAGTTGGCTATTATCTATCTTAACCTGTTCAGGCTTTTAAAAAAAACTGTTTTTGCATAGGGTAGTACTAAGATCTTAAAAAGTGGTAACTGTCTTGAAGAAAAAACGTTTATTGTTTGTTTGCAATTGAAATAACAGGGT
ATATGTATGAATACGTATGTGTTTTAATAACTGTTCACTCTGCTGAATTTTTACTGTTTGTGATAGTGTTTAGCTGATTTTCTTGTGTTTTCAAATTCTTATTTGCCAATAGTGATTTTTCTCCCTCCTTTTCTAATGAATAGGTTTTGATGGCACTTTATTTGACTACTTTAATGGTTATGAAGATTTAAAAAATAAGAAAGTTAGATTTGTTGGACATGCTAAACAGAGAATACAAGAGGATTATCTTAGAATTTTAAGATACTTCAGGTAAGAATTTTTAAAAATAAAAAATGATAGTTTTAATATCATGACTAGAGCATAACAGTGGTCATACGAAACCCACAGCAGGTCAGTGTACAAAATGGTGACATCCCAAATGTCTGTCTCCAGTGGAGACCTAGCACCCTATGACTTATGAGTGAAAATTACTTAGCTACTTCATATTGTATTTTCATTCCCAGAACGCACATATACTTTATGTCATCTTTCCTACAATTTTAAGTCATCTTTTTAAATGTCCATTTTTCTTTTTGATTGATATTTCCTCCATTGATTTATTAATTACACAGATGTTTGAATGCTTACCACAGGTCAATCCCTGTGTTAGGTGCATTAAACGTGGTAATGAACGAGTGAAAGTGTTCGCCTTCATACAGCTTACGGTTTTAGGTAGTCATGGAAATCGGTGATGGTTCACAACAAAATGATTTTGGTGAAAAGAAATACCTGTTATATGATTTAAAGAATCAAAGCATAAAGACATAATCGAAACTTGGATGGGCCGGGTGTGGTGGCTCACACCTGTAATCCCCGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATGAGACCATGCTGGCTAACATGGTGAAACCCCATTTCTACTAAAAATACAAAAAATTAGCCAGGCATGGCGGTGTGCGCCTGTAGTCCGAGCTACTCGGGAGGCTGAGGCAGGAGGATGGCGGGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACCGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGAAGATCTTGGATAAACTTGGTAAATATGAAACGCATGACTAGTTTTGTGGGTAGCAATGATGTTTAAATGTCACACACTAACCTTTTTAAAAAACTATCCGAATTGGCTAGTTTATGTCAAGTAATATTCATTTTTCACTGGTTGGGATTGCTCTCAGAATATTCTATAACAGAACATGGATATTTTGTCAATGTAGTTTCTCTAAACTTGAGTATTTGTAGTCTGTCTTATAAATAATAGAACATAGATTAAGACTTAGCTGTATTTGTATCACTAATCCAGATTTAGCATTAATTTACTTATTTAGCATCACTTTGGACCGCTGATGAATTCATTAGAATTTTAAGGGCATGAGAGGGAAACACATGCACGTTAGGGCTTCCAGTTCTAAGATTCCGCGAAATATACTCCAGGGTGCGCAACTAGATGAGTCGTATTTGAAGGTTTTCCTTGAAAGTACTAATGTGTACAGACAGGCAAGCTTTGAGGAATTCAGACTACTCTGTTAAGGCACTGCAGTCTTGTTTTGGTTTGCTGCCTTTACAAGAATGCTGTTTTTTTTTTCATCTAGTATAAGTGCCAATTCAGGAATTGCATTTGATGACCATTCGGAATGTCTTGAGTCAGTAATTTGGAAGTGAGGTGGAGACCTTGAAGTTTTAGTTCTTGCTAACCTCAAAAAGGCTACTTATATTTTATTCGATCCTGGGTTTTCTTATCTGGGAAAAGAAAGAGGAGGTGGAGAAATGACCAGTTGCTTTCTAAGGTCCCTTCTAGACCTAACTAATTATATGTTGTTTTCATTAAGCAGATGTATGGGATAGTACCAATAAAAATGAAAAACAGATTTTGCTTGTGATATGCCAATATAGAGGTAATACCCTGTGAAGATTTTGTCTTGTAGGTTTTATGGGAGAATTGTAGACAAACCTGGTGACCATGATCCTGAGACTTTGGAAGCAACTGCAGAAAATGCAAAAGGCTTGGCTGGAATATCAGGAGAAAGGATTTGGGTGGAACTGAAAAAAATTCTTGTTGGTAACCATGTAAATCATTTGATTCACCTTATCTATGATCTTGATGTGGCTCCTTATATAGGTGAGAGCAAGTTATAAAGTGTTTGAATTTTTGGCAGTGAAATATCTGGTTTCAAATTTCATAAGGAAAAAATGTTTGACTCATTTGGTTGAAGAATTCTTGGAGAAATGGAGTATTTTAAAATAAGACAAAGTTTGGGTTATGGGGTAAGTTTTGTCGTGAGTAGGGAAGAGCTCAAAGACAGCTTGTGGTGCTTGTAGAGTAGTCTCTAGTCAGACCTAGGTTTGAAGGAAGCTCAGCCCCTTATCTAGTCTTTGCAACTTGGGTTAGTTTCTAACCCAAAAAAGCGGTTTAAAAGTAATGTAGCCTCTATCTAATAGGAAAGCTAAAAGGATTCAGTGAGTTAATACATGTAAAGCTCTTTTAGAAGAGTGACTTGTACACAGAAATTGTTCAGTAAACGTTGTAATTCATTTTCACAGAGAATAGTGGGATTATATGGTTTATCACACTTCGGTAAGCTTGGGCATATTTCAAATTTCAGTAACATTACTGAATGGGGGGTGGATCTTGTATCAGTGTAAAGTCAGGAATTTGTGATTAGAAAGAGTATGCCTTGTGAGTCTGACACCACTGTCACCACTACCCCTGGAACTCTTGATGTAGCTTTAATGGAAACAAGAACATTTTAGAGGTTTTGAAGGTGACAGGGGAGAGAATAACAATATATTAGTGGTTCGCCTTTAAGTTGGAACATCAGACTGAACCTATATAATGTATCCTAGTGACAAAGCATTTCTGGATACTAAAATGGTGGCAAGGTTTAGGATATGAGTGGTTTTTTATCCCCACTAAAAACAGGTGAAAAATGCTTTTGTCCCTACAGGTTTACCTGCTAATGCAAGTTTAGAAGAATTTGACAAAGTCAGTAAAAATGTTGATGGTTTTTCACCAAAGCCAGTGACTCTTTTGGCCTCATTATTCAAAGTACAAGATGATGTCACAAAATTGGATTTGAGGTTGAAGATCGCAAAAGAGGAGAAAAACCTTGGCTTATTTATAGTTAAAAATAGGAAAGATTTAATTAAAGCAACAGATAGTTCAGACCCATTGAAACCCTATCAAGACTTCATTATAGATGTAAGTATATACTAGGCTTGGTCAGAAATATGAAGTATCGTCACGAATTTAGAATTAATTTATTAAAACTAAGATCTACAAATCTGTGAATTTTACTTATTTTAAATGAAAAAATTTATGTTGAGTATTTAAATTTTAGGATAAGATTGTAAGTGTATGTTTTCATGTGTGACGAAACTAAATGTTTGATTTTGACACGTAGTCTAGGGAACCTGATGCAACTACTCGTGTATGTGAACTACTGAAGTACCAAGGAGAGCACTGTCTCCTAAAGGAAATGCAGCAGTGGTCCATTCCTCCATTTCCTGTAAGTGGCCATGACATCAGAAAAGTGGGCATTTCTTCAGGAAAAGAAATTGGGGCTCTATTACAACAGTTGCGAGAACAGTGGAAAAAAAGTGGTTACCAAATGGAAAAAGATGAACTTCTGAGTTACATAAAGAAGACCTAAAACTGATGGCTACTAAAAAGCAGAGCATTTCTGGTAAGACTAAATTTTCTCCCCTCCCTCTTAATGAGGTTTTAGAGACTACACCAGAATAAAAGACAGTTTAGGGGACCTCTGTAGAACAACAAGGGTCTTATTTTGTGAATTATATATTTCAAGAACTAAACAGAGATCCACCTTTCTGGATCTGATTTATATCACTGAAATGTACAGTTCTTTTGGAATAGTTTCACCTGAGAAAACATAGTTGGCTATTATCTATCTTAACCTGTTCAGGCTTTTAAAAAAAACTGTTTTTGCATAGGGTAGTACTAAGATCTTAAAAAGTGGTAACTGTCTTGAAGAAAAAACGTTTATTGTTTGTTTGCAATTGAAATAACAGGGT
Task1_train_5871
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?
Pathogenic; Multiple sulfatase deficiency
TGCTACCAATGTTTGTTCTTTTTTTTTTTTTTTTTTGCCTGGGATTAATCATCAGTAGGTGGAAGTTTGTAGAGAAACATTTGATATCTACAAAATGAACCACAAATGTGGCTAAACGTGCCAGCTACATGACTTTTTTTTTTTTTTCTTTTTTTCCTGAGACAAAGTCTTGTTCTCTTATCCAGGCTGGAATGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGCAATTCTCCTGGCTCAGTCCTGAGTAGCTGGGACTACAGGCAAGTGTCACCACTCCTGGCTAAATTTTATTTTTTGTATTTTTAGTAGAAATAGGGTTTTGGCATGTTGGCCAAGCTAATCTCGAACTCCTGACCTTGAGTGATCTACCCACCTTGGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCACTGGGCCTGGCCTACATGACTGCTTTTCAAGGGAATTGTTTTAACATGTTAAGAGGCTAAGCACAAAAGTAGCATTCAAGTGTTGGTTAGACACTTTTGAATATTATTTGATTTAAACATTTCTTTCAAATGGCATGCAAGAAATGGCTTAGGGGTTCTCAGGACTGAGGAATCAGGATGGGAACTTGATAACAGGGACCTTAGGTTGAAAGCTATTGTTCTAAAACAAGGTGCTTTCCCGGCATGGGAAGCAAATGCTGGGTTTTACAAGACCACAAGTGAGGCAGTGCCTTTGACTTGGCATTATCTACTGTGGCAACAAGCAGCAAGGTCATGATAGGGTTACTGGTGGAATAGCCTTGCTTTTTGGAACAAAAATTCCCACAAATTACCCACATATCAAAGTTATCCATTAGCTAACAAACATGAACGTTTTCTAGCAAATAAAACACGCATATCACAAAGTCCTCTCTTTAAAAGAAAACATAAAGAAGAGAAAGAGAAAAGAAGCTGATGACGGTGAAGCCTGATTTAGCAGATACGTTTATTCAACACAGTGCATGATTCAAAGCATCGGATATTCCACAGCCAACAAGGTTTCCTATTCCCTATTACAAAATACCGGATACCCTGAATATAGCTCATTCAAGGTCCTCGTTCCTTTTTCCCTATATCTAGAATTAAACAGGTTTCCCCGTTTAGCGCACATTTCACGTTCGCTGAAGGCTTTGGGGAGAGGGGGAAACAGAGCTTATGACTGCCCCTCTGAACCAAAGGCACTTAATGTTAAAAGATAAAGCACAGTAGAGTCACCCCACAGACATTCCTATGTGTTCAACGGCTGAACTTCAGCATACCATCACCGGCCCCATGTGGGATTCATCATAACAACGTAAAAGACACTGATTTCCTTGGAAAAACAAAGTGCAGTACGAATATAAAGGAGTCACCACACCCCTCTTCCGAAAATAATACATAAGAGAACTCTTACTTTACATGATTAGTATCACTCAAGGTTCACACATGGAAAAAATAGCTAAAAAATAATCTATAATAAATTCTCACTATGAAGTCACAATAGAATCTGATACCCTTTTTAGAACTGGTGAGTTGGAGAGACACCCAGAGGTCATGCTGTCCATCCCTTCATTTGATAGGGGAGGGCACTTGAGGCCCAGGAAGGTCAAGCGTCGGACCTGGGGTCTAACCCCTGTGGCAGAGCCTGCGTAGGACGCGGGCCTCCTGAAGCCTAGCTCAGGGTTCCCTCCACTCCCCTTCCTCTTTAAAGACTCTCAAAAGTAAAATATGGTGATGATCTCCAAAGATGCACCACACCATAAAGCACATGCACTGACCCAGGTCAGCAATTTGGTCTCACAAGGCGGTTCCTTTGGCCATTGGGCAGGTATGTAACCCACCTCAGGGTGGGAATTCTTTGCATGGGATCGTTCAAAGTTCTGAGAAAAGCCCAATGTAGGTCAGACACGACTGCTCCTTGGACTGGGGAAGACTTTCCTTGGTTGTCAGTCCATAGTGGGCAGGCGGTCGGCTGCACAGCGGAATCCCAGATTCGAAGCAGAGCTATCAGGTGTGTTCTGGCTCCGAGCAGCACAGCGATACCTGTAACAATAAGACTGTGTAGAGAGAAAGAGCAAGGTAAGTGCTACTGGGACTCTCAGCTGAAGGCTCTAACCCATCAGATGCATATTGCACCGGCTGTAGACAGTGCTTCCCCACAACCCTGCCTGTATGGATACTTAACATGTATGCTTTAAAAAGGGCAGCACATTCAAGAACTAACCACATATTTTCCAACGTCCTTCACCTTATAAATGTAACACGGATATAGTACAAAGATGTTCAGCATTAGATATAACAGCAAAAAAGAAAAATGTAACAACCAATGATTGCCTAAGTTTAGGCACATCCATATAATAGAAAAGTAAGCAGCCATTGAAAGTCATGTCTTTACATAGTATTTAATGACACAGGAAGTTTTCATGATAAAATGTTAAATGAGGCCAGGCGCACTGGCTCACACCTGTAATCCCAACATTTTGGGAGGCTGAAATGGGAGAACTGTTTGAGGCCAGGAGCTCGAGGCCAGCCTGGGCAACACAGCAAGATCCCATCTCTACAAAAAATTAGCTGAGCATGGTGGTGTGCACTTGTAGTCACAGCTACTCTAGAGGTTGAAGTGGGAAGATCTCTTGAGCCTGGGTGTTTGAGGCTGCAGTACACCATCACTGAGCCACTGTACTAAAGCCTGGGTGACAGAGCAAGATCTTGTGTCCAAAAAAAGAAAAAAAAACAGTTAAAATGAAAAAGGCAGAATATAAAGGTGTATATGTGGTATGACCACAGTGTAGATAACTACATGTGCCAAGAAGAAAAGACTGGAAGATTCCGAATGCACCACAATGTGCACAGTAGTTATCCCTCAAGCAATCTGAGTTTCATGTTTCCTATATGAAACCTATTCAGTATTCCAATACAATAAGAATATATATTAATTTTTGAAATTAAACCAAGTAATAAGTGATAGATGGCCACTGAAAAAATACTAAGAACAACACTAAGACACCATTTAATACCTAAATAATATTTATGATATTATTTATTATCTAAATCATATTTATGATATCATTTAATGCCAGTAGATCGGCAAAAAATTAAACAACAAGTCTAGGAACATCAAACATAGGAAAGGCTGTGGGACAACATTGCTTTTTAAAAATACATTGCTCTTCCATTTCTTTGTATCCTCTTTTATTTCATTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACGTCCCTTGTAAGGTGGATTCCTAGGTATTTTATTCTCTTTGAAGTAATTGTGAATGGGAGTTCACTCATGATTTGGCTCTCTGTTTGTCTGTTATTGGTGTATAAGATTGCTTGTGATTTTTGTACATTGATTTCGTATCCTGAGACGTTGCTGAAGTTGCTTATCAGCTTAAGGAGACTTTGGGCTGACACAATGGGGTTTTCTAGATATACAATCATGTCATCTGCAAACAGGGACAATTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCCTAATCGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGAGAGAGGGCATCCCTGTCTTGTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTGTGATATTGGCTGTGGGTCTGTCATAGATAGCTCTTATTATTTTGAGATACATCCCATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATTGTGTCAAAGGCCTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTCTTTGGTTCTGTTTATATGCTGGATTACATTTATTCATTTGCGTATATTGAACCAGACTTGCATCCCAGGGATGAAGCCCACTTGATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTATTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTCTTGGTTGAGTCTCTGCCCGGCTTTGGTATCAGGATGATGCTGGCCTCATCAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATA
TGCTACCAATGTTTGTTCTTTTTTTTTTTTTTTTTTGCCTGGGATTAATCATCAGTAGGTGGAAGTTTGTAGAGAAACATTTGATATCTACAAAATGAACCACAAATGTGGCTAAACGTGCCAGCTACATGACTTTTTTTTTTTTTTCTTTTTTTCCTGAGACAAAGTCTTGTTCTCTTATCCAGGCTGGAATGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGCAATTCTCCTGGCTCAGTCCTGAGTAGCTGGGACTACAGGCAAGTGTCACCACTCCTGGCTAAATTTTATTTTTTGTATTTTTAGTAGAAATAGGGTTTTGGCATGTTGGCCAAGCTAATCTCGAACTCCTGACCTTGAGTGATCTACCCACCTTGGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCACTGGGCCTGGCCTACATGACTGCTTTTCAAGGGAATTGTTTTAACATGTTAAGAGGCTAAGCACAAAAGTAGCATTCAAGTGTTGGTTAGACACTTTTGAATATTATTTGATTTAAACATTTCTTTCAAATGGCATGCAAGAAATGGCTTAGGGGTTCTCAGGACTGAGGAATCAGGATGGGAACTTGATAACAGGGACCTTAGGTTGAAAGCTATTGTTCTAAAACAAGGTGCTTTCCCGGCATGGGAAGCAAATGCTGGGTTTTACAAGACCACAAGTGAGGCAGTGCCTTTGACTTGGCATTATCTACTGTGGCAACAAGCAGCAAGGTCATGATAGGGTTACTGGTGGAATAGCCTTGCTTTTTGGAACAAAAATTCCCACAAATTACCCACATATCAAAGTTATCCATTAGCTAACAAACATGAACGTTTTCTAGCAAATAAAACACGCATATCACAAAGTCCTCTCTTTAAAAGAAAACATAAAGAAGAGAAAGAGAAAAGAAGCTGATGACGGTGAAGCCTGATTTAGCAGATACGTTTATTCAACACAGTGCATGATTCAAAGCATCGGATATTCCACAGCCAACAAGGTTTCCTATTCCCTATTACAAAATACCGGATACCCTGAATATAGCTCATTCAAGGTCCTCGTTCCTTTTTCCCTATATCTAGAATTAAACAGGTTTCCCCGTTTAGCGCACATTTCACGTTCGCTGAAGGCTTTGGGGAGAGGGGGAAACAGAGCTTATGACTGCCCCTCTGAACCAAAGGCACTTAATGTTAAAAGATAAAGCACAGTAGAGTCACCCCACAGACATTCCTATGTGTTCAACGGCTGAACTTCAGCATACCATCACCGGCCCCATGTGGGATTCATCATAACAACGTAAAAGACACTGATTTCCTTGGAAAAACAAAGTGCAGTACGAATATAAAGGAGTCACCACACCCCTCTTCCGAAAATAATACATAAGAGAACTCTTACTTTACATGATTAGTATCACTCAAGGTTCACACATGGAAAAAATAGCTAAAAAATAATCTATAATAAATTCTCACTATGAAGTCACAATAGAATCTGATACCCTTTTTAGAACTGGTGAGTTGGAGAGACACCCAGAGGTCATGCTGTCCATCCCTTCATTTGATAGGGGAGGGCACTTGAGGCCCAGGAAGGTCAAGCGTCGGACCTGGGGTCTAACCCCTGTGGCAGAGCCTGCGTAGGACGCGGGCCTCCTGAAGCCTAGCTCAGGGTTCCCTCCACTCCCCTTCCTCTTTAAAGACTCTCAAAAGTAAAATATGGTGATGATCTCCAAAGATGCACCACACCATAAAGCACATGCACTGACCCAGGTCAGCAATTTGGTCTCACAAGGCGGTTCCTTTGGCCATTGGGCAGGTATGTAACCCACCTCAGGGTGGGAATTCTTTGCATGGGATCGTTCAAAGTTCTGAGAAAAGCCCAATGTAGGTCAGACACGACTGCTCCTTGGACTGGGGAAGACTTTCCTTGGTTGTCAGTCCATAGTGGGCAGGCGGTCGGCTGCACAGCGGAATCCCAGATTCGAAGCAGAGCTATCAGGTGTGTTCTGGCTCCGAGCAGCACAGCAATACCTGTAACAATAAGACTGTGTAGAGAGAAAGAGCAAGGTAAGTGCTACTGGGACTCTCAGCTGAAGGCTCTAACCCATCAGATGCATATTGCACCGGCTGTAGACAGTGCTTCCCCACAACCCTGCCTGTATGGATACTTAACATGTATGCTTTAAAAAGGGCAGCACATTCAAGAACTAACCACATATTTTCCAACGTCCTTCACCTTATAAATGTAACACGGATATAGTACAAAGATGTTCAGCATTAGATATAACAGCAAAAAAGAAAAATGTAACAACCAATGATTGCCTAAGTTTAGGCACATCCATATAATAGAAAAGTAAGCAGCCATTGAAAGTCATGTCTTTACATAGTATTTAATGACACAGGAAGTTTTCATGATAAAATGTTAAATGAGGCCAGGCGCACTGGCTCACACCTGTAATCCCAACATTTTGGGAGGCTGAAATGGGAGAACTGTTTGAGGCCAGGAGCTCGAGGCCAGCCTGGGCAACACAGCAAGATCCCATCTCTACAAAAAATTAGCTGAGCATGGTGGTGTGCACTTGTAGTCACAGCTACTCTAGAGGTTGAAGTGGGAAGATCTCTTGAGCCTGGGTGTTTGAGGCTGCAGTACACCATCACTGAGCCACTGTACTAAAGCCTGGGTGACAGAGCAAGATCTTGTGTCCAAAAAAAGAAAAAAAAACAGTTAAAATGAAAAAGGCAGAATATAAAGGTGTATATGTGGTATGACCACAGTGTAGATAACTACATGTGCCAAGAAGAAAAGACTGGAAGATTCCGAATGCACCACAATGTGCACAGTAGTTATCCCTCAAGCAATCTGAGTTTCATGTTTCCTATATGAAACCTATTCAGTATTCCAATACAATAAGAATATATATTAATTTTTGAAATTAAACCAAGTAATAAGTGATAGATGGCCACTGAAAAAATACTAAGAACAACACTAAGACACCATTTAATACCTAAATAATATTTATGATATTATTTATTATCTAAATCATATTTATGATATCATTTAATGCCAGTAGATCGGCAAAAAATTAAACAACAAGTCTAGGAACATCAAACATAGGAAAGGCTGTGGGACAACATTGCTTTTTAAAAATACATTGCTCTTCCATTTCTTTGTATCCTCTTTTATTTCATTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACGTCCCTTGTAAGGTGGATTCCTAGGTATTTTATTCTCTTTGAAGTAATTGTGAATGGGAGTTCACTCATGATTTGGCTCTCTGTTTGTCTGTTATTGGTGTATAAGATTGCTTGTGATTTTTGTACATTGATTTCGTATCCTGAGACGTTGCTGAAGTTGCTTATCAGCTTAAGGAGACTTTGGGCTGACACAATGGGGTTTTCTAGATATACAATCATGTCATCTGCAAACAGGGACAATTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCCTAATCGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGAGAGAGGGCATCCCTGTCTTGTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTGTGATATTGGCTGTGGGTCTGTCATAGATAGCTCTTATTATTTTGAGATACATCCCATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATTGTGTCAAAGGCCTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTCTTTGGTTCTGTTTATATGCTGGATTACATTTATTCATTTGCGTATATTGAACCAGACTTGCATCCCAGGGATGAAGCCCACTTGATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTATTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTCTTGGTTGAGTCTCTGCCCGGCTTTGGTATCAGGATGATGCTGGCCTCATCAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATA
Task1_train_5872
This variant impacts the gene SUMF1 (sulfatase modifying factor 1) on Chromosome 3. Is the change likely to result in a pathogenic outcome?
Pathogenic; Multiple sulfatase deficiency
TTACAAAAACATTACTAGAACTAATAAATGAGTTTTGCAAGGTTGCAAGACTCAAGATGAACATAAAAAATCAGTACCATGTAAGTGTACTTAATAAAGTATGTAGGAGTTTAAAAGATATTTTTAAAGAATCTACTGGGAAGCTTATAAAAATGTAGATTACAAATAAGCTAAAAGTTATAAAACATGAAAGTAGATACATTCATACGCATGGAATTAGGACAGTTAATGTCCTTTACTTGCTTAAAATGTTTTTTACAAGCTTCTGTTACCCCATTTATTCTTGATGAAAAATCTTCTGGTCCTCAATTACTTAGAAAGTAAATGGATTCTGAATTTAGAAAAGTGCCATATGCCAGAGACATAACTGGTGACAATTAGGATTTTGAGATACTACTGTACAAAGAGAGATTCACCTGTTTTCCATGGAAGTCTGGTTTCCTGGCAAGAAGATCCAGGTACATTTGTAGCAATAACTTCAAATAGAGAAGCAATCTGGGATTAAAGACTCTGATGTATACGTGAACATGTAAATATATTGGGAAGACCTGGGACAATGCTTTTAATTTAAAATTAAAACTAGGATTTTAGGCCGGGCACAGTGGCTGATGCCTGTAATCCCAACACTTTGGGAAGCAAAGGCAGGAAGAATTTCCTGAGCCCAAATGTTCAAGACCAGCCTAGGCAACATGGCAAGACCCCATCTCTAAAAAAAATTTAAAAATTAGCCAAGTTACTTAGGAGGCTGAGATGGGAGGATCGCTTGAGCCCAGGAGGTCGGGGCTGTAGTGAGCTGTGATTGTGCCACTGCACCTCAGTCTGGGTGAAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATTTCATGAAAATAAATTGGTCTACATCTTATTACCAATGTAGGTCTAAAGCATCAATTGAGCTCTGCTCTATGAACTTCAACCTGAATCACTGGATTAAAAATTCTAAGAAATACAGAAGATACACATACATACAAACTCACATATATACATAAAATCTAGAGAGATTTGCTTTAGGCTAGTGATTCCCGAACTTGGCTGTATGTTTTCATCACCTGGAGAGCTTTAAAAAATGCAATGCCCAGCTCACACTGAAGAAAAATCAAATCAGAATGGGGGTGAGTGAGGAGCCAGACATCAGTATTTTATATAGATCCCAGATGATTACAATGTGGAATAAAGTTTGAGAACCACTGTTTAAGACAAAATTTGATAATGCCATCATTATCAAATTAGTAACTTAATTTGGAGCCATTATAGGTGGTTTTAAGTCTCTAACCACCTGGACTGAATAAATTCCTAGGGGAAGCTTTGAGGCAATAACAATCTGCAAAATGCCATCTCTGCACAGGGATAGAAAGCTGGAGTTCAGGAGACGTGAAAAATATATGACTCAAAGAAAAAAGGGAAGGGATGGTATTCTATTTCCAAATTCCTTATAAAGGTTATTTAGGAAACACCAAGTCACTCTAACTGATGAAGAAAGCCAGCTCAGACACTAAAATCATAGCCCAAAGAGAAGAAACACTCTCTGGGAATGATGCTTATTTCACAAGGCACACTTTGTACCTAGAACACGGGATGCTTCCATTTCAGTATATCACAATCTGCCCTCCATACATAACTCTCACCTGAATCTCAACAGAAAATCCAGAAATGTACAGGATTCTCAAATAAATTAAGGGTGTGCTTTCAGACTTACATGCTGGAAAAGTTATATACACCCACCCCTGTGCAGTTCGTGGGACAACAAAGGTCTCTCAAAGGGGCAAGATTCAATAGATGAAATTTGGTTGACAATAGGTCATTCACAACCTTTGTTACTTGTGTTACTTTTCTCCATGCTTGTAACCAAATTTGAGATGACTGTCCTCCTTTTTTTCTGGTTTCAGTGGGGTTAGGTAGGCATTTGCAGAAGTGAATGAGACATTTGGGGCTATCATTTACAATGGATCCATAAAACTGCTATCAGAACAAGAACGGCAAAACAGTTTAGTGACATGACTTACCCTATGGCACATGTAGGATCCACCTTTCTTCACTCGGTCTTTCCCAGAAGGGGGACCTTTCTACAGATGAAGAAAAAAGGCTATGTTAGACCAGAAGGCAAAGCTGCCCCTTACACAGTGGGAGAGAATCCACTTTGATCCAACCAGCTCTCTCATGGTTGCCTAAACTCTCCACATGCATTTCCACCCCTAGGCTTTGTATCTGTATTCGTGGGCTCTCCCAAATGCTCACCTCCCCAAATCCTACCCATCTTCTAAGGCCCACCTCAAGTTTCCACTCTTTGGTGAAGTCTTCGTAACTACAGGAAGCAATCCTGTCTCTAAGTCCCTACAGCATTTCTTGCCTAGATGACTAATAAGCTGCTTGGCTGCACCTCTTACCATGTCATGATGCAAATTTATCCTGTGTTATAACTGGTTTACTCATCTACACTGGCAAGCCTCTTTGAATTGCATGGTATTTTTTGAAACAAAAATTTTTCTTGAGACAGGGTCTCCTTCTGTCACCCAGGCTGGAGTGCAGTGCTGTGATCATAGCTCACTACAGCCTTGACCACCTGGGCTCAAGCAATCCTCCCTCCTCAGCCTCCCAAGTAGCTAGAACCACAGGCATGAACCACCATGCCCAGCTAATTTTTAAAAATTATTATTTGTAGAGACAGGGTCTCGCTATATTGCCCAGGCTGGTCTTGAACTACTGAGCTCAAGTGACCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGCAACACCATGCCAAGCCAGAATTATATGTTTTTATAATCCCGCTGTGTAATACTTAATAAATAGTTTGCTGATTGAATGAAAGAGTTTGCTTGTTAGCCTTAAAAAAATTTAGGTGTGCTTTATTAAGATATAATTAATATACAGTAAAATTCATCCTTTTTAAGTGCACAGTTCCAGTGAGTTTTGACAAACATATATAGTCATGTAACCGCTACCACAATCAAGACATACAACATGGTTTATCTTGAAGAAAAAAAAAAAGACACATATACGTACTATGAACCAGGCACAGTTTGAGCACTTTACAAATATTAACTCAGGTATTCTCCATCCAACCTTGGAGGTAGGTTAAGTTACTGGTAAAATAAGTGGCACAGTCAGGCAGCCTTGCTCCAGAGTCCATGCTCTGAGGCACTCCACTGCGCTCCCACTTAGAGACAAGAAGTGTAGGAAATTAGGCAATGCTTAAAAGGAGGCAAGGAAGAGCAGCGTCTACCACTGTAATAAGAATTAACATCTACACAGAGCCAGTATAATGGCAAGACTTTTTTCTAGGAAGGGCTTCAGATAAAAGTTCAAAGGAAATGAAAATCCTAAAGCATCAGTTGCCAAGATAAAAGCCTCAACATCAGGTAAGGCATACACAGCATCTGAGAGGTACCAATAAATAGGCTCTAATAAGCCAGAACCGTATCAGGGGAGTCTATGGGGAAAGGGATTTATCTCCTTTTTTTGTTCAAAAAGACAATTAATCACACACCTGTCTACTATTTGCTCCAAAAACGCAAGAGGCCGGGACAACCCCACTCCTATCTTAGTTTTTCCTTCTCCTGTGACCCAAAAGCACCCTTACTTAAGTGGCAGAAATTAAAAGAATCACGTTTTCTCCAAGCATGGCTAATGTACTTTCTTGCAAATGTAAACCATGTGGGCAGAAGTGCACATTACCTTCTAAGCATTTCCAGGTACAGATGCTCCTTAGCATGGGATTAGGTCCTGTCCTGATAAATCCATCATAAGTTGAAAATATTATTAAGTCAAAAATGCATTTAATACTCCTAACCTACCCAACATCACAGCTTAGCCTAGCCTACCTTAAACATGTTCAGAACACTCATGTTAGTCTGTAGTTGGGCAAATCATCTAAGAACACAAAGCCTATTTTATAATAAATTGTGGAATATATCATGTAAATTGCTGAATACTGAACTGAAAGTGGAAAACAGAATGGTTGTATGGATACTTAAACCACAGTTTCTACCAAAGGCATATCACTTTTGCACAATTGTAAACTCAAAAAA
TTACAAAAACATTACTAGAACTAATAAATGAGTTTTGCAAGGTTGCAAGACTCAAGATGAACATAAAAAATCAGTACCATGTAAGTGTACTTAATAAAGTATGTAGGAGTTTAAAAGATATTTTTAAAGAATCTACTGGGAAGCTTATAAAAATGTAGATTACAAATAAGCTAAAAGTTATAAAACATGAAAGTAGATACATTCATACGCATGGAATTAGGACAGTTAATGTCCTTTACTTGCTTAAAATGTTTTTTACAAGCTTCTGTTACCCCATTTATTCTTGATGAAAAATCTTCTGGTCCTCAATTACTTAGAAAGTAAATGGATTCTGAATTTAGAAAAGTGCCATATGCCAGAGACATAACTGGTGACAATTAGGATTTTGAGATACTACTGTACAAAGAGAGATTCACCTGTTTTCCATGGAAGTCTGGTTTCCTGGCAAGAAGATCCAGGTACATTTGTAGCAATAACTTCAAATAGAGAAGCAATCTGGGATTAAAGACTCTGATGTATACGTGAACATGTAAATATATTGGGAAGACCTGGGACAATGCTTTTAATTTAAAATTAAAACTAGGATTTTAGGCCGGGCACAGTGGCTGATGCCTGTAATCCCAACACTTTGGGAAGCAAAGGCAGGAAGAATTTCCTGAGCCCAAATGTTCAAGACCAGCCTAGGCAACATGGCAAGACCCCATCTCTAAAAAAAATTTAAAAATTAGCCAAGTTACTTAGGAGGCTGAGATGGGAGGATCGCTTGAGCCCAGGAGGTCGGGGCTGTAGTGAGCTGTGATTGTGCCACTGCACCTCAGTCTGGGTGAAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATTTCATGAAAATAAATTGGTCTACATCTTATTACCAATGTAGGTCTAAAGCATCAATTGAGCTCTGCTCTATGAACTTCAACCTGAATCACTGGATTAAAAATTCTAAGAAATACAGAAGATACACATACATACAAACTCACATATATACATAAAATCTAGAGAGATTTGCTTTAGGCTAGTGATTCCCGAACTTGGCTGTATGTTTTCATCACCTGGAGAGCTTTAAAAAATGCAATGCCCAGCTCACACTGAAGAAAAATCAAATCAGAATGGGGGTGAGTGAGGAGCCAGACATCAGTATTTTATATAGATCCCAGATGATTACAATGTGGAATAAAGTTTGAGAACCACTGTTTAAGACAAAATTTGATAATGCCATCATTATCAAATTAGTAACTTAATTTGGAGCCATTATAGGTGGTTTTAAGTCTCTAACCACCTGGACTGAATAAATTCCTAGGGGAAGCTTTGAGGCAATAACAATCTGCAAAATGCCATCTCTGCACAGGGATAGAAAGCTGGAGTTCAGGAGACGTGAAAAATATATGACTCAAAGAAAAAAGGGAAGGGATGGTATTCTATTTCCAAATTCCTTATAAAGGTTATTTAGGAAACACCAAGTCACTCTAACTGATGAAGAAAGCCAGCTCAGACACTAAAATCATAGCCCAAAGAGAAGAAACACTCTCTGGGAATGATGCTTATTTCACAAGGCACACTTTGTACCTAGAACACGGGATGCTTCCATTTCAGTATATCACAATCTGCCCTCCATACATAACTCTCACCTGAATCTCAACAGAAAATCCAGAAATGTACAGGATTCTCAAATAAATTAAGGGTGTGCTTTCAGACTTACATGCTGGAAAAGTTATATACACCCACCCCTGTGCAGTTCGTGGGACAACAAAGGTCTCTCAAAGGGGCAAGATTCAATAGATGAAATTTGGTTGACAATAGGTCATTCACAACCTTTGTTACTTGTGTTACTTTTCTCCATGCTTGTAACCAAATTTGAGATGACTGTCCTCCTTTTTTTCTGGTTTCAGTGGGGTTAGGTAGGCATTTGCAGAAGTGAATGAGACATTTGGGGCTATCATTTACAATGGATCCATAAAACTGCTATCAGAACAAGAACGGCAAAACAGTTTAGTGACATGACTTACCCTATGGCGCATGTAGGATCCACCTTTCTTCACTCGGTCTTTCCCAGAAGGGGGACCTTTCTACAGATGAAGAAAAAAGGCTATGTTAGACCAGAAGGCAAAGCTGCCCCTTACACAGTGGGAGAGAATCCACTTTGATCCAACCAGCTCTCTCATGGTTGCCTAAACTCTCCACATGCATTTCCACCCCTAGGCTTTGTATCTGTATTCGTGGGCTCTCCCAAATGCTCACCTCCCCAAATCCTACCCATCTTCTAAGGCCCACCTCAAGTTTCCACTCTTTGGTGAAGTCTTCGTAACTACAGGAAGCAATCCTGTCTCTAAGTCCCTACAGCATTTCTTGCCTAGATGACTAATAAGCTGCTTGGCTGCACCTCTTACCATGTCATGATGCAAATTTATCCTGTGTTATAACTGGTTTACTCATCTACACTGGCAAGCCTCTTTGAATTGCATGGTATTTTTTGAAACAAAAATTTTTCTTGAGACAGGGTCTCCTTCTGTCACCCAGGCTGGAGTGCAGTGCTGTGATCATAGCTCACTACAGCCTTGACCACCTGGGCTCAAGCAATCCTCCCTCCTCAGCCTCCCAAGTAGCTAGAACCACAGGCATGAACCACCATGCCCAGCTAATTTTTAAAAATTATTATTTGTAGAGACAGGGTCTCGCTATATTGCCCAGGCTGGTCTTGAACTACTGAGCTCAAGTGACCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGCAACACCATGCCAAGCCAGAATTATATGTTTTTATAATCCCGCTGTGTAATACTTAATAAATAGTTTGCTGATTGAATGAAAGAGTTTGCTTGTTAGCCTTAAAAAAATTTAGGTGTGCTTTATTAAGATATAATTAATATACAGTAAAATTCATCCTTTTTAAGTGCACAGTTCCAGTGAGTTTTGACAAACATATATAGTCATGTAACCGCTACCACAATCAAGACATACAACATGGTTTATCTTGAAGAAAAAAAAAAAGACACATATACGTACTATGAACCAGGCACAGTTTGAGCACTTTACAAATATTAACTCAGGTATTCTCCATCCAACCTTGGAGGTAGGTTAAGTTACTGGTAAAATAAGTGGCACAGTCAGGCAGCCTTGCTCCAGAGTCCATGCTCTGAGGCACTCCACTGCGCTCCCACTTAGAGACAAGAAGTGTAGGAAATTAGGCAATGCTTAAAAGGAGGCAAGGAAGAGCAGCGTCTACCACTGTAATAAGAATTAACATCTACACAGAGCCAGTATAATGGCAAGACTTTTTTCTAGGAAGGGCTTCAGATAAAAGTTCAAAGGAAATGAAAATCCTAAAGCATCAGTTGCCAAGATAAAAGCCTCAACATCAGGTAAGGCATACACAGCATCTGAGAGGTACCAATAAATAGGCTCTAATAAGCCAGAACCGTATCAGGGGAGTCTATGGGGAAAGGGATTTATCTCCTTTTTTTGTTCAAAAAGACAATTAATCACACACCTGTCTACTATTTGCTCCAAAAACGCAAGAGGCCGGGACAACCCCACTCCTATCTTAGTTTTTCCTTCTCCTGTGACCCAAAAGCACCCTTACTTAAGTGGCAGAAATTAAAAGAATCACGTTTTCTCCAAGCATGGCTAATGTACTTTCTTGCAAATGTAAACCATGTGGGCAGAAGTGCACATTACCTTCTAAGCATTTCCAGGTACAGATGCTCCTTAGCATGGGATTAGGTCCTGTCCTGATAAATCCATCATAAGTTGAAAATATTATTAAGTCAAAAATGCATTTAATACTCCTAACCTACCCAACATCACAGCTTAGCCTAGCCTACCTTAAACATGTTCAGAACACTCATGTTAGTCTGTAGTTGGGCAAATCATCTAAGAACACAAAGCCTATTTTATAATAAATTGTGGAATATATCATGTAAATTGCTGAATACTGAACTGAAAGTGGAAAACAGAATGGTTGTATGGATACTTAAACCACAGTTTCTACCAAAGGCATATCACTTTTGCACAATTGTAAACTCAAAAAA
Task1_train_5873
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.
Pathogenic; Multiple sulfatase deficiency
CAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGGAGTGAGCCACGATCACGCCACTGCACTCCAGCCTCGGCAACAGAGTAAGACTCCATCTCAAAAAAAAAAAAAAAAAAACAGACAGAAAAATAAAAGAAATGATTATCACGGTCTTGTCCAAATGAGGGCCACAAAAGCCATCACCTGTGTCTTTGGAATGGAGCTCATTTCAAATGAGCATATGATTATGCCAACAAAAGAATGGTGAGAAAGGAACTCTTGTACACCCATAAAGGAAAACATGCCCCAAGTGTTCTGGAAAATAATTCAACCATATATCTGAAACTCTTACCAAGAAAAGTTTTCTAACCTTTGACTCAATCATTTCACTGCTGGGAATCTATCTTTAAAAAATCATCAAAGGGCCAGGTGCGGTGGCTCATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCGGGAGGATCGCCTGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGTTGAAATGGGAGAATTGGTTGAACCCAGGAGACAGAGGTTGCAGTGAGCCAAGATTACACCACTGCACTACAGCCTGAGTGACAGAGTGAGACTCCATCTCAAAAATAAATAAATAAATAAGTAAATAAAATGGCTCAAGGTTGAAGTGAGTGCTCTTTTGCCCGCCTTCTGCCTTCTGCCAGGGGAGGACACAGCATTAGTCCCTTCTGGTGGATGCAGCCGACATCAATCATGCTGCTGCCTTGGTCTTAGACTTCCCAGCCTCCAGAATTGCAAGAAATAAATTTCTGTTGTTTACAAATTATCCAGTCTGTAGTATTTTCTTACAGTAGCACAAAGGGACTAAGACTAAGACATGGCTTTATGAGTATATGATTATGCCAGCAAAAGAACGGTGAGAAAAGATTTCTTATACACCAATAGAGGAAAACATGCCCCAAGCATTCTGGAAAACAGTTTGGCCATATATCTGAAACTCTTACCCAGAAAGTTTTCTAGACTTTGAATTATTTCACTGCTGGGAATCTAATCTATCTTTCAAAAATCATCAAAGACGTAGGTTAATATTTATGTACAAGATGTTCACTGTAGAAAAAAAAAACAGAAATAACCTGTTTCCAGTAAATACATTGGGGTTTATTTATGACAGGTTATCCAGCTGCTGAAAGACAATGTATTTGTGGCATACTGCTAATGACAGATGAAACGTTTCTGATATAGGCAGGAAAAAATAGTAGGATTTTAAATACTGTATCCAGTCTTACCTAAATGCAATATGTAAAAAAATATGATACATATACACCAGAAACACATATGCTGGCAAATACGGTAGTTAAGAGCATGGGCTTTGGAAATAAACCGACCTGGTTCAAATTCCAGCTGTGCCGCTTTCCAGCTGTGTAACCTTGAGCAAGTTAGTTAACCTCTCTGTGCCTCAGAATGCTCACCTGGAAAATGGGGATAATAGTACCTACCTTACAGAGTTGAATGGACAGTAAATGAGACAATTCATGCAAATGCCTTGGCGCACAATGCCCAGCACATTGCAAGCACTCAATAACTACACGCCATTATTAGCATCATCAACACAGAGAACAAATGGGGAAGAAATGCACCAATATGCTAACAGGTATTATTTCTGGGTGGTAGAATTCCAGGACAGTTTAGCTTTCTCCTTTATAGTCTTCTCATTTTTCCAAATAATCTACAGTAAGTATTATGGAATCAGAAAGGGAAATCCATTATACAAAAAGAAAATCTGTTTAATTATTAGTATTTGCTACGTGCAACAGTGAATGCATACACGAAGGGAACACCGTGTGAGTCACAAAGTGAGCAATGCCTTTCACCCCATGTCTACTGGGAGCCTCAGTTCTCAGCAGCTGCCACCCTCCTGCAGAGGTCTCATTACTCACAGGCGCAGTTCCTTGGAAGCCATCCTCACCAGTGTTGGTCACCGGAAACTCGCCCTGCCAAATGTTGGCATAATGCTGGCCTTTGGGCTGCAGTTTGTTGCCCCAGGGGAAAAGTCTGTCAGAAGAGACACAGGCATCAGCCTGTCAAACAGGCACAGGTTTTGGATGAAAGTCAAGAGAAGGGATGCAATGAAAAAGAGAACATTGCTTGCTTGTTCTGAGTGAGCCAGTTAAAATATATATATAAATAAATAAAGCTTTTAATCAGGATTTATTTTCAATTTCCTTATAACTTCTCATGTCACGTCCACAACAGCCTCAGTCTTGCCCAGGTACTCAGGAGGCCTGAAATAAATCACAAAACTAAAAGAAGGACTTATAGAAAGCTGGGAGAGTAGACCTCATTTTGGACTTATATGGTAGTGTGATCAGGCACCACCACACCACACTTTTTTATAAAGCCTGGGCTATTTTAAGGAGCCTTTCCTAGAAGATGTGAACCCAACATGAGTTTTCTGTCTCATGGCTCTAGAAGCAGAGACATACCGCTGCTTCAGGAGATGCCTAAAATAAGAAAATGCTAAAAGCAGGGCAGTCTGCCAAGAAGTTCTAAGCAGTGATATGTAACTCAAGGGGGTTGAATTGCTAAGACTTGCTTTGGGGCTGGAGGGAGCCCACTTGGCCAGACACTTGGTTTAGGGGTGATAAAAGATTTGTGACCCATTCTCCAGTGTCTTCTAAGTAATTTCGTGGAAAAATAAGAAAAAGAATTATTGTCGTTATTAACTTTCTAACCAAAGTAAGTTCCATGGAGTTTTTTGTTGTTGTTTGTTTGTTCAAATGACCAACATATTGTCAGGCAAAATGAGATCCTCTAAATACCTATTATGCAGGCCTCCTCGACAGCTGTATTCCCACTCAGCTTCCGTGGGCAGCCGCTTCCCTGCCCAAGTGCAGTAGGCAACCGCATCATTCCAGGACACATGGAGAACTGGATGATCCGGCCTGGGGAAGAGCAAAAGTAGAATGAAAAGTGACACCAATCAGAACAAGAAGCAGGAGCTGGCTTCAGCAAAGCGCCCATAATCCCCCTCAGTTCAATCTGTGACACTGAGGTCATCCTGGTCCTTAAGTCAAACCCCAGCCATGCTACATCTGTCATGCTCCACCAACGGTTTCTGACAACCCAGGCTCCCAAATGGGTTACAGTTCCACTGGGAACTAGACTCAAAACATTTCTTCACTTTGTAGGCTCGGATTCCCACAGAATGTCATTGGTATGGCAGATGCGGAGATACTCCAGCTGCTAGGAGGGCCAGCAGGAGCTTTCAGCTCCTTTGGGGTTCAGCAGAGCTGACAGCCATCTCAGAGAAACCAGTGACTAACCAACCACAGCAGGGGCATACAGAGCCAGCCATTTCAGCCTACAGTGGCTCAACCTATGGGCCATATACACCCTAGAGGCCCCTGTGTTGGGTGGAGCTTGGTTGGACCTGCATTGTGGCTTTGACTTCTCCCTCTGCCCAGTCCTGCTCTGGCCCCTGCTTTCTACAGGTGTGGGGCCCTAACATTCTGCATCCTAAACTCTGTTTCAGCCTCTGTTTCCAGAGAACCCAACCTGTGACCCTTGGCTTTCAATTCTGTGTCTTTCTACTTTTCCTCTACAAGAGGCCGGTCTTTTTTTCCTGAGGGTATAAAGGGTGTGGAAGTTTGGGGAAAAAAAACTGAGAAAAAGGGGATAGACTCATTCACCCAGCACTAGATGGCTTTGGCTGAATTCCCTGCTCACTTTTTTAAAAGTGGGCTACAAATTCCTAGTCCATTCCTTATACACCTTTGAATTCCCCACAGTAATTACACCAGGCCTTTCATTTATTCTTTCAACAAACATCTACTGAGTACCTATCATGTGCCAGTCACTGTTTCCAGCACAGACAACAGAGGTACTCTTCTCAGAAGATCCATCGGTGTTGACTGCATGGATAACATACATTCCCCTTTTGGGTTTTCCTTCCTCCCTTAGCATTTTCCTCTGTTACTAAATTCAGGAAAGCAGATATTAACTGGGAGCTAAGAAGCCAAGTCCACCTGAGAAACCCA
CAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGGAGTGAGCCACGATCACGCCACTGCACTCCAGCCTCGGCAACAGAGTAAGACTCCATCTCAAAAAAAAAAAAAAAAAAACAGACAGAAAAATAAAAGAAATGATTATCACGGTCTTGTCCAAATGAGGGCCACAAAAGCCATCACCTGTGTCTTTGGAATGGAGCTCATTTCAAATGAGCATATGATTATGCCAACAAAAGAATGGTGAGAAAGGAACTCTTGTACACCCATAAAGGAAAACATGCCCCAAGTGTTCTGGAAAATAATTCAACCATATATCTGAAACTCTTACCAAGAAAAGTTTTCTAACCTTTGACTCAATCATTTCACTGCTGGGAATCTATCTTTAAAAAATCATCAAAGGGCCAGGTGCGGTGGCTCATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCGGGAGGATCGCCTGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGTTGAAATGGGAGAATTGGTTGAACCCAGGAGACAGAGGTTGCAGTGAGCCAAGATTACACCACTGCACTACAGCCTGAGTGACAGAGTGAGACTCCATCTCAAAAATAAATAAATAAATAAGTAAATAAAATGGCTCAAGGTTGAAGTGAGTGCTCTTTTGCCCGCCTTCTGCCTTCTGCCAGGGGAGGACACAGCATTAGTCCCTTCTGGTGGATGCAGCCGACATCAATCATGCTGCTGCCTTGGTCTTAGACTTCCCAGCCTCCAGAATTGCAAGAAATAAATTTCTGTTGTTTACAAATTATCCAGTCTGTAGTATTTTCTTACAGTAGCACAAAGGGACTAAGACTAAGACATGGCTTTATGAGTATATGATTATGCCAGCAAAAGAACGGTGAGAAAAGATTTCTTATACACCAATAGAGGAAAACATGCCCCAAGCATTCTGGAAAACAGTTTGGCCATATATCTGAAACTCTTACCCAGAAAGTTTTCTAGACTTTGAATTATTTCACTGCTGGGAATCTAATCTATCTTTCAAAAATCATCAAAGACGTAGGTTAATATTTATGTACAAGATGTTCACTGTAGAAAAAAAAAACAGAAATAACCTGTTTCCAGTAAATACATTGGGGTTTATTTATGACAGGTTATCCAGCTGCTGAAAGACAATGTATTTGTGGCATACTGCTAATGACAGATGAAACGTTTCTGATATAGGCAGGAAAAAATAGTAGGATTTTAAATACTGTATCCAGTCTTACCTAAATGCAATATGTAAAAAAATATGATACATATACACCAGAAACACATATGCTGGCAAATACGGTAGTTAAGAGCATGGGCTTTGGAAATAAACCGACCTGGTTCAAATTCCAGCTGTGCCGCTTTCCAGCTGTGTAACCTTGAGCAAGTTAGTTAACCTCTCTGTGCCTCAGAATGCTCACCTGGAAAATGGGGATAATAGTACCTACCTTACAGAGTTGAATGGACAGTAAATGAGACAATTCATGCAAATGCCTTGGCGCACAATGCCCAGCACATTGCAAGCACTCAATAACTACACGCCATTATTAGCATCATCAACACAGAGAACAAATGGGGAAGAAATGCACCAATATGCTAACAGGTATTATTTCTGGGTGGTAGAATTCCAGGACAGTTTAGCTTTCTCCTTTATAGTCTTCTCATTTTTCCAAATAATCTACAGTAAGTATTATGGAATCAGAAAGGGAAATCCATTATACAAAAAGAAAATCTGTTTAATTATTAGTATTTGCTACGTGCAACAGTGAATGCATACACGAAGGGAACACCGTGTGAGTCACAAAGTGAGCAATGCCTTTCACCCCATGTCTACTGGGAGCCTCAGTTCTCAGCAGCTGCCACCCTCCTGCAGAGGTCTCATTACTCACAGGCGCAGTTCCTTGGAAGCCATCCTCACCAGTGTTGGTCACCGGAAACTCGACCTGCCAAATGTTGGCATAATGCTGGCCTTTGGGCTGCAGTTTGTTGCCCCAGGGGAAAAGTCTGTCAGAAGAGACACAGGCATCAGCCTGTCAAACAGGCACAGGTTTTGGATGAAAGTCAAGAGAAGGGATGCAATGAAAAAGAGAACATTGCTTGCTTGTTCTGAGTGAGCCAGTTAAAATATATATATAAATAAATAAAGCTTTTAATCAGGATTTATTTTCAATTTCCTTATAACTTCTCATGTCACGTCCACAACAGCCTCAGTCTTGCCCAGGTACTCAGGAGGCCTGAAATAAATCACAAAACTAAAAGAAGGACTTATAGAAAGCTGGGAGAGTAGACCTCATTTTGGACTTATATGGTAGTGTGATCAGGCACCACCACACCACACTTTTTTATAAAGCCTGGGCTATTTTAAGGAGCCTTTCCTAGAAGATGTGAACCCAACATGAGTTTTCTGTCTCATGGCTCTAGAAGCAGAGACATACCGCTGCTTCAGGAGATGCCTAAAATAAGAAAATGCTAAAAGCAGGGCAGTCTGCCAAGAAGTTCTAAGCAGTGATATGTAACTCAAGGGGGTTGAATTGCTAAGACTTGCTTTGGGGCTGGAGGGAGCCCACTTGGCCAGACACTTGGTTTAGGGGTGATAAAAGATTTGTGACCCATTCTCCAGTGTCTTCTAAGTAATTTCGTGGAAAAATAAGAAAAAGAATTATTGTCGTTATTAACTTTCTAACCAAAGTAAGTTCCATGGAGTTTTTTGTTGTTGTTTGTTTGTTCAAATGACCAACATATTGTCAGGCAAAATGAGATCCTCTAAATACCTATTATGCAGGCCTCCTCGACAGCTGTATTCCCACTCAGCTTCCGTGGGCAGCCGCTTCCCTGCCCAAGTGCAGTAGGCAACCGCATCATTCCAGGACACATGGAGAACTGGATGATCCGGCCTGGGGAAGAGCAAAAGTAGAATGAAAAGTGACACCAATCAGAACAAGAAGCAGGAGCTGGCTTCAGCAAAGCGCCCATAATCCCCCTCAGTTCAATCTGTGACACTGAGGTCATCCTGGTCCTTAAGTCAAACCCCAGCCATGCTACATCTGTCATGCTCCACCAACGGTTTCTGACAACCCAGGCTCCCAAATGGGTTACAGTTCCACTGGGAACTAGACTCAAAACATTTCTTCACTTTGTAGGCTCGGATTCCCACAGAATGTCATTGGTATGGCAGATGCGGAGATACTCCAGCTGCTAGGAGGGCCAGCAGGAGCTTTCAGCTCCTTTGGGGTTCAGCAGAGCTGACAGCCATCTCAGAGAAACCAGTGACTAACCAACCACAGCAGGGGCATACAGAGCCAGCCATTTCAGCCTACAGTGGCTCAACCTATGGGCCATATACACCCTAGAGGCCCCTGTGTTGGGTGGAGCTTGGTTGGACCTGCATTGTGGCTTTGACTTCTCCCTCTGCCCAGTCCTGCTCTGGCCCCTGCTTTCTACAGGTGTGGGGCCCTAACATTCTGCATCCTAAACTCTGTTTCAGCCTCTGTTTCCAGAGAACCCAACCTGTGACCCTTGGCTTTCAATTCTGTGTCTTTCTACTTTTCCTCTACAAGAGGCCGGTCTTTTTTTCCTGAGGGTATAAAGGGTGTGGAAGTTTGGGGAAAAAAAACTGAGAAAAAGGGGATAGACTCATTCACCCAGCACTAGATGGCTTTGGCTGAATTCCCTGCTCACTTTTTTAAAAGTGGGCTACAAATTCCTAGTCCATTCCTTATACACCTTTGAATTCCCCACAGTAATTACACCAGGCCTTTCATTTATTCTTTCAACAAACATCTACTGAGTACCTATCATGTGCCAGTCACTGTTTCCAGCACAGACAACAGAGGTACTCTTCTCAGAAGATCCATCGGTGTTGACTGCATGGATAACATACATTCCCCTTTTGGGTTTTCCTTCCTCCCTTAGCATTTTCCTCTGTTACTAAATTCAGGAAAGCAGATATTAACTGGGAGCTAAGAAGCCAAGTCCACCTGAGAAACCCA
Task1_train_5874
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.
Pathogenic; Multiple sulfatase deficiency
TCTTACAGTAGCACAAAGGGACTAAGACTAAGACATGGCTTTATGAGTATATGATTATGCCAGCAAAAGAACGGTGAGAAAAGATTTCTTATACACCAATAGAGGAAAACATGCCCCAAGCATTCTGGAAAACAGTTTGGCCATATATCTGAAACTCTTACCCAGAAAGTTTTCTAGACTTTGAATTATTTCACTGCTGGGAATCTAATCTATCTTTCAAAAATCATCAAAGACGTAGGTTAATATTTATGTACAAGATGTTCACTGTAGAAAAAAAAAACAGAAATAACCTGTTTCCAGTAAATACATTGGGGTTTATTTATGACAGGTTATCCAGCTGCTGAAAGACAATGTATTTGTGGCATACTGCTAATGACAGATGAAACGTTTCTGATATAGGCAGGAAAAAATAGTAGGATTTTAAATACTGTATCCAGTCTTACCTAAATGCAATATGTAAAAAAATATGATACATATACACCAGAAACACATATGCTGGCAAATACGGTAGTTAAGAGCATGGGCTTTGGAAATAAACCGACCTGGTTCAAATTCCAGCTGTGCCGCTTTCCAGCTGTGTAACCTTGAGCAAGTTAGTTAACCTCTCTGTGCCTCAGAATGCTCACCTGGAAAATGGGGATAATAGTACCTACCTTACAGAGTTGAATGGACAGTAAATGAGACAATTCATGCAAATGCCTTGGCGCACAATGCCCAGCACATTGCAAGCACTCAATAACTACACGCCATTATTAGCATCATCAACACAGAGAACAAATGGGGAAGAAATGCACCAATATGCTAACAGGTATTATTTCTGGGTGGTAGAATTCCAGGACAGTTTAGCTTTCTCCTTTATAGTCTTCTCATTTTTCCAAATAATCTACAGTAAGTATTATGGAATCAGAAAGGGAAATCCATTATACAAAAAGAAAATCTGTTTAATTATTAGTATTTGCTACGTGCAACAGTGAATGCATACACGAAGGGAACACCGTGTGAGTCACAAAGTGAGCAATGCCTTTCACCCCATGTCTACTGGGAGCCTCAGTTCTCAGCAGCTGCCACCCTCCTGCAGAGGTCTCATTACTCACAGGCGCAGTTCCTTGGAAGCCATCCTCACCAGTGTTGGTCACCGGAAACTCGCCCTGCCAAATGTTGGCATAATGCTGGCCTTTGGGCTGCAGTTTGTTGCCCCAGGGGAAAAGTCTGTCAGAAGAGACACAGGCATCAGCCTGTCAAACAGGCACAGGTTTTGGATGAAAGTCAAGAGAAGGGATGCAATGAAAAAGAGAACATTGCTTGCTTGTTCTGAGTGAGCCAGTTAAAATATATATATAAATAAATAAAGCTTTTAATCAGGATTTATTTTCAATTTCCTTATAACTTCTCATGTCACGTCCACAACAGCCTCAGTCTTGCCCAGGTACTCAGGAGGCCTGAAATAAATCACAAAACTAAAAGAAGGACTTATAGAAAGCTGGGAGAGTAGACCTCATTTTGGACTTATATGGTAGTGTGATCAGGCACCACCACACCACACTTTTTTATAAAGCCTGGGCTATTTTAAGGAGCCTTTCCTAGAAGATGTGAACCCAACATGAGTTTTCTGTCTCATGGCTCTAGAAGCAGAGACATACCGCTGCTTCAGGAGATGCCTAAAATAAGAAAATGCTAAAAGCAGGGCAGTCTGCCAAGAAGTTCTAAGCAGTGATATGTAACTCAAGGGGGTTGAATTGCTAAGACTTGCTTTGGGGCTGGAGGGAGCCCACTTGGCCAGACACTTGGTTTAGGGGTGATAAAAGATTTGTGACCCATTCTCCAGTGTCTTCTAAGTAATTTCGTGGAAAAATAAGAAAAAGAATTATTGTCGTTATTAACTTTCTAACCAAAGTAAGTTCCATGGAGTTTTTTGTTGTTGTTTGTTTGTTCAAATGACCAACATATTGTCAGGCAAAATGAGATCCTCTAAATACCTATTATGCAGGCCTCCTCGACAGCTGTATTCCCACTCAGCTTCCGTGGGCAGCCGCTTCCCTGCCCAAGTGCAGTAGGCAACCGCATCATTCCAGGACACATGGAGAACTGGATGATCCGGCCTGGGGAAGAGCAAAAGTAGAATGAAAAGTGACACCAATCAGAACAAGAAGCAGGAGCTGGCTTCAGCAAAGCGCCCATAATCCCCCTCAGTTCAATCTGTGACACTGAGGTCATCCTGGTCCTTAAGTCAAACCCCAGCCATGCTACATCTGTCATGCTCCACCAACGGTTTCTGACAACCCAGGCTCCCAAATGGGTTACAGTTCCACTGGGAACTAGACTCAAAACATTTCTTCACTTTGTAGGCTCGGATTCCCACAGAATGTCATTGGTATGGCAGATGCGGAGATACTCCAGCTGCTAGGAGGGCCAGCAGGAGCTTTCAGCTCCTTTGGGGTTCAGCAGAGCTGACAGCCATCTCAGAGAAACCAGTGACTAACCAACCACAGCAGGGGCATACAGAGCCAGCCATTTCAGCCTACAGTGGCTCAACCTATGGGCCATATACACCCTAGAGGCCCCTGTGTTGGGTGGAGCTTGGTTGGACCTGCATTGTGGCTTTGACTTCTCCCTCTGCCCAGTCCTGCTCTGGCCCCTGCTTTCTACAGGTGTGGGGCCCTAACATTCTGCATCCTAAACTCTGTTTCAGCCTCTGTTTCCAGAGAACCCAACCTGTGACCCTTGGCTTTCAATTCTGTGTCTTTCTACTTTTCCTCTACAAGAGGCCGGTCTTTTTTTCCTGAGGGTATAAAGGGTGTGGAAGTTTGGGGAAAAAAAACTGAGAAAAAGGGGATAGACTCATTCACCCAGCACTAGATGGCTTTGGCTGAATTCCCTGCTCACTTTTTTAAAAGTGGGCTACAAATTCCTAGTCCATTCCTTATACACCTTTGAATTCCCCACAGTAATTACACCAGGCCTTTCATTTATTCTTTCAACAAACATCTACTGAGTACCTATCATGTGCCAGTCACTGTTTCCAGCACAGACAACAGAGGTACTCTTCTCAGAAGATCCATCGGTGTTGACTGCATGGATAACATACATTCCCCTTTTGGGTTTTCCTTCCTCCCTTAGCATTTTCCTCTGTTACTAAATTCAGGAAAGCAGATATTAACTGGGAGCTAAGAAGCCAAGTCCACCTGAGAAACCCAGGAATCCTATGACTTTCCACCTCGAAGCCTAATTGCAGCACAGCGGCTTCCAATTGAGGCTTTGAAAGATGTTTGACATTTGTCAAGGGGCTATATCCCTAAAGCTGAACTTCCTATACTCGCAGCTCCCCGACAATAAGGGCAATAACCAGGAATGTTGTTAAAAATAGAGACTTAAAAACTGCATCTGAAAAATTAGGTTAGGAGAGCAGGTTTCTTGGGCTGCTGAGATGCTGAGTCCTAACCCAAACCTTGCTCAATCTCCAGGGTTTAAAGTGTTACTCTATTTTTGCTTGAGATAATTATTTCCTTGCCACCCTGGAGACTTGCTGACCGACTTGGCTCTCTGTGGTTTTCCAGTTAGATGGTGGCTTCAAAGAATTCCAATCTGGAACTCAAGATCATGTGAATCCTATACCCAAGGCCTGGGCTTCCACAGTGGCAACCTGGGAGGACACAATTACTTATCCATAAGACAGACGTCTTCTTCCTCATAGACCCGCTAATAATGGAAACAGAATGTAAAGATTAAACATGTCATGAGGTTTGGAATAGGCCTCTCAAAAGGAGCAGGGAAACTGGGAAGAGGCAACTCTTTGACAAGCCAAATGAGGAGAGAAAGAGGCCACTAATTAAGAGCTTTCTTATGAGCAAGGTGCAGTGTTTGGGTCTTTACATACGTTATTTCCCACCATCTTATTTTCCTACCAATCAATTACAGTTTGTCATTCTTATCATTTTATAGATGAAGATGCCCACTGAGTTCTTTTGCAAGAGCAAAGGGTACCTATTTTGCAATGGAACTTGTCAACTGGGGAAAGAGGGACCAGCCTCACCTGTGCAGAATAGTAGAGTCAGGCCCTTCTGGGTGTCTCCAGTTAGCGCCTTTCACAGGTAACCAC
TCTTACAGTAGCACAAAGGGACTAAGACTAAGACATGGCTTTATGAGTATATGATTATGCCAGCAAAAGAACGGTGAGAAAAGATTTCTTATACACCAATAGAGGAAAACATGCCCCAAGCATTCTGGAAAACAGTTTGGCCATATATCTGAAACTCTTACCCAGAAAGTTTTCTAGACTTTGAATTATTTCACTGCTGGGAATCTAATCTATCTTTCAAAAATCATCAAAGACGTAGGTTAATATTTATGTACAAGATGTTCACTGTAGAAAAAAAAAACAGAAATAACCTGTTTCCAGTAAATACATTGGGGTTTATTTATGACAGGTTATCCAGCTGCTGAAAGACAATGTATTTGTGGCATACTGCTAATGACAGATGAAACGTTTCTGATATAGGCAGGAAAAAATAGTAGGATTTTAAATACTGTATCCAGTCTTACCTAAATGCAATATGTAAAAAAATATGATACATATACACCAGAAACACATATGCTGGCAAATACGGTAGTTAAGAGCATGGGCTTTGGAAATAAACCGACCTGGTTCAAATTCCAGCTGTGCCGCTTTCCAGCTGTGTAACCTTGAGCAAGTTAGTTAACCTCTCTGTGCCTCAGAATGCTCACCTGGAAAATGGGGATAATAGTACCTACCTTACAGAGTTGAATGGACAGTAAATGAGACAATTCATGCAAATGCCTTGGCGCACAATGCCCAGCACATTGCAAGCACTCAATAACTACACGCCATTATTAGCATCATCAACACAGAGAACAAATGGGGAAGAAATGCACCAATATGCTAACAGGTATTATTTCTGGGTGGTAGAATTCCAGGACAGTTTAGCTTTCTCCTTTATAGTCTTCTCATTTTTCCAAATAATCTACAGTAAGTATTATGGAATCAGAAAGGGAAATCCATTATACAAAAAGAAAATCTGTTTAATTATTAGTATTTGCTACGTGCAACAGTGAATGCATACACGAAGGGAACACCGTGTGAGTCACAAAGTGAGCAATGCCTTTCACCCCATGTCTACTGGGAGCCTCAGTTCTCAGCAGCTGCCACCCTCCTGCAGAGGTCTCATTACTCACAGGCGCAGTTCCTTGGAAGCCATCCTCACCAGTGTTGGTCACCGGAAACTCGCCCTGCCAAATGTTGGCATAATGCTGGCCTTTGGGCTGCAGTTTGTTGCCCCAGGGGAAAAGTCTGTCAGAAGAGACACAGGCATCAGCCTGTCAAACAGGCACAGGTTTTGGATGAAAGTCAAGAGAAGGGATGCAATGAAAAAGAGAACATTGCTTGCTTGTTCTGAGTGAGCCAGTTAAAATATATATATAAATAAATAAAGCTTTTAATCAGGATTTATTTTCAATTTCCTTATAACTTCTCATGTCACGTCCACAACAGCCTCAGTCTTGCCCAGGTACTCAGGAGGCCTGAAATAAATCACAAAACTAAAAGAAGGACTTATAGAAAGCTGGGAGAGTAGACCTCATTTTGGACTTATATGGTAGTGTGATCAGGCACCACCACACCACACTTTTTTATAAAGCCTGGGCTATTTTAAGGAGCCTTTCCTAGAAGATGTGAACCCAACATGAGTTTTCTGTCTCATGGCTCTAGAAGCAGAGACATACCGCTGCTTCAGGAGATGCCTAAAATAAGAAAATGCTAAAAGCAGGGCAGTCTGCCAAGAAGTTCTAAGCAGTGATATGTAACTCAAGGGGGTTGAATTGCTAAGACTTGCTTTGGGGCTGGAGGGAGCCCACTTGGCCAGACACTTGGTTTAGGGGTGATAAAAGATTTGTGACCCATTCTCCAGTGTCTTCTAAGTAATTTCGTGGAAAAATAAGAAAAAGAATTATTGTCGTTATTAACTTTCTAACCAAAGTAAGTTCCATGGAGTTTTTTGTTGTTGTTTGTTTGTTCAAATGACCAACATATTGTCAGGCAAAATGAGATCCTCTAAATACCTATTATGCAGGCCTCCTCGACAGCTGTATTCCCACTCAGCTTCCGTGGGCAGCCGCTTCCCTGCCCAAGTGTAGTAGGCAACCGCATCATTCCAGGACACATGGAGAACTGGATGATCCGGCCTGGGGAAGAGCAAAAGTAGAATGAAAAGTGACACCAATCAGAACAAGAAGCAGGAGCTGGCTTCAGCAAAGCGCCCATAATCCCCCTCAGTTCAATCTGTGACACTGAGGTCATCCTGGTCCTTAAGTCAAACCCCAGCCATGCTACATCTGTCATGCTCCACCAACGGTTTCTGACAACCCAGGCTCCCAAATGGGTTACAGTTCCACTGGGAACTAGACTCAAAACATTTCTTCACTTTGTAGGCTCGGATTCCCACAGAATGTCATTGGTATGGCAGATGCGGAGATACTCCAGCTGCTAGGAGGGCCAGCAGGAGCTTTCAGCTCCTTTGGGGTTCAGCAGAGCTGACAGCCATCTCAGAGAAACCAGTGACTAACCAACCACAGCAGGGGCATACAGAGCCAGCCATTTCAGCCTACAGTGGCTCAACCTATGGGCCATATACACCCTAGAGGCCCCTGTGTTGGGTGGAGCTTGGTTGGACCTGCATTGTGGCTTTGACTTCTCCCTCTGCCCAGTCCTGCTCTGGCCCCTGCTTTCTACAGGTGTGGGGCCCTAACATTCTGCATCCTAAACTCTGTTTCAGCCTCTGTTTCCAGAGAACCCAACCTGTGACCCTTGGCTTTCAATTCTGTGTCTTTCTACTTTTCCTCTACAAGAGGCCGGTCTTTTTTTCCTGAGGGTATAAAGGGTGTGGAAGTTTGGGGAAAAAAAACTGAGAAAAAGGGGATAGACTCATTCACCCAGCACTAGATGGCTTTGGCTGAATTCCCTGCTCACTTTTTTAAAAGTGGGCTACAAATTCCTAGTCCATTCCTTATACACCTTTGAATTCCCCACAGTAATTACACCAGGCCTTTCATTTATTCTTTCAACAAACATCTACTGAGTACCTATCATGTGCCAGTCACTGTTTCCAGCACAGACAACAGAGGTACTCTTCTCAGAAGATCCATCGGTGTTGACTGCATGGATAACATACATTCCCCTTTTGGGTTTTCCTTCCTCCCTTAGCATTTTCCTCTGTTACTAAATTCAGGAAAGCAGATATTAACTGGGAGCTAAGAAGCCAAGTCCACCTGAGAAACCCAGGAATCCTATGACTTTCCACCTCGAAGCCTAATTGCAGCACAGCGGCTTCCAATTGAGGCTTTGAAAGATGTTTGACATTTGTCAAGGGGCTATATCCCTAAAGCTGAACTTCCTATACTCGCAGCTCCCCGACAATAAGGGCAATAACCAGGAATGTTGTTAAAAATAGAGACTTAAAAACTGCATCTGAAAAATTAGGTTAGGAGAGCAGGTTTCTTGGGCTGCTGAGATGCTGAGTCCTAACCCAAACCTTGCTCAATCTCCAGGGTTTAAAGTGTTACTCTATTTTTGCTTGAGATAATTATTTCCTTGCCACCCTGGAGACTTGCTGACCGACTTGGCTCTCTGTGGTTTTCCAGTTAGATGGTGGCTTCAAAGAATTCCAATCTGGAACTCAAGATCATGTGAATCCTATACCCAAGGCCTGGGCTTCCACAGTGGCAACCTGGGAGGACACAATTACTTATCCATAAGACAGACGTCTTCTTCCTCATAGACCCGCTAATAATGGAAACAGAATGTAAAGATTAAACATGTCATGAGGTTTGGAATAGGCCTCTCAAAAGGAGCAGGGAAACTGGGAAGAGGCAACTCTTTGACAAGCCAAATGAGGAGAGAAAGAGGCCACTAATTAAGAGCTTTCTTATGAGCAAGGTGCAGTGTTTGGGTCTTTACATACGTTATTTCCCACCATCTTATTTTCCTACCAATCAATTACAGTTTGTCATTCTTATCATTTTATAGATGAAGATGCCCACTGAGTTCTTTTGCAAGAGCAAAGGGTACCTATTTTGCAATGGAACTTGTCAACTGGGGAAAGAGGGACCAGCCTCACCTGTGCAGAATAGTAGAGTCAGGCCCTTCTGGGTGTCTCCAGTTAGCGCCTTTCACAGGTAACCAC
Task1_train_5875
An alteration has been detected in SUMF1 (sulfatase modifying factor 1) on Chromosome 3. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Multiple sulfatase deficiency
CAACCGCATCATTCCAGGACACATGGAGAACTGGATGATCCGGCCTGGGGAAGAGCAAAAGTAGAATGAAAAGTGACACCAATCAGAACAAGAAGCAGGAGCTGGCTTCAGCAAAGCGCCCATAATCCCCCTCAGTTCAATCTGTGACACTGAGGTCATCCTGGTCCTTAAGTCAAACCCCAGCCATGCTACATCTGTCATGCTCCACCAACGGTTTCTGACAACCCAGGCTCCCAAATGGGTTACAGTTCCACTGGGAACTAGACTCAAAACATTTCTTCACTTTGTAGGCTCGGATTCCCACAGAATGTCATTGGTATGGCAGATGCGGAGATACTCCAGCTGCTAGGAGGGCCAGCAGGAGCTTTCAGCTCCTTTGGGGTTCAGCAGAGCTGACAGCCATCTCAGAGAAACCAGTGACTAACCAACCACAGCAGGGGCATACAGAGCCAGCCATTTCAGCCTACAGTGGCTCAACCTATGGGCCATATACACCCTAGAGGCCCCTGTGTTGGGTGGAGCTTGGTTGGACCTGCATTGTGGCTTTGACTTCTCCCTCTGCCCAGTCCTGCTCTGGCCCCTGCTTTCTACAGGTGTGGGGCCCTAACATTCTGCATCCTAAACTCTGTTTCAGCCTCTGTTTCCAGAGAACCCAACCTGTGACCCTTGGCTTTCAATTCTGTGTCTTTCTACTTTTCCTCTACAAGAGGCCGGTCTTTTTTTCCTGAGGGTATAAAGGGTGTGGAAGTTTGGGGAAAAAAAACTGAGAAAAAGGGGATAGACTCATTCACCCAGCACTAGATGGCTTTGGCTGAATTCCCTGCTCACTTTTTTAAAAGTGGGCTACAAATTCCTAGTCCATTCCTTATACACCTTTGAATTCCCCACAGTAATTACACCAGGCCTTTCATTTATTCTTTCAACAAACATCTACTGAGTACCTATCATGTGCCAGTCACTGTTTCCAGCACAGACAACAGAGGTACTCTTCTCAGAAGATCCATCGGTGTTGACTGCATGGATAACATACATTCCCCTTTTGGGTTTTCCTTCCTCCCTTAGCATTTTCCTCTGTTACTAAATTCAGGAAAGCAGATATTAACTGGGAGCTAAGAAGCCAAGTCCACCTGAGAAACCCAGGAATCCTATGACTTTCCACCTCGAAGCCTAATTGCAGCACAGCGGCTTCCAATTGAGGCTTTGAAAGATGTTTGACATTTGTCAAGGGGCTATATCCCTAAAGCTGAACTTCCTATACTCGCAGCTCCCCGACAATAAGGGCAATAACCAGGAATGTTGTTAAAAATAGAGACTTAAAAACTGCATCTGAAAAATTAGGTTAGGAGAGCAGGTTTCTTGGGCTGCTGAGATGCTGAGTCCTAACCCAAACCTTGCTCAATCTCCAGGGTTTAAAGTGTTACTCTATTTTTGCTTGAGATAATTATTTCCTTGCCACCCTGGAGACTTGCTGACCGACTTGGCTCTCTGTGGTTTTCCAGTTAGATGGTGGCTTCAAAGAATTCCAATCTGGAACTCAAGATCATGTGAATCCTATACCCAAGGCCTGGGCTTCCACAGTGGCAACCTGGGAGGACACAATTACTTATCCATAAGACAGACGTCTTCTTCCTCATAGACCCGCTAATAATGGAAACAGAATGTAAAGATTAAACATGTCATGAGGTTTGGAATAGGCCTCTCAAAAGGAGCAGGGAAACTGGGAAGAGGCAACTCTTTGACAAGCCAAATGAGGAGAGAAAGAGGCCACTAATTAAGAGCTTTCTTATGAGCAAGGTGCAGTGTTTGGGTCTTTACATACGTTATTTCCCACCATCTTATTTTCCTACCAATCAATTACAGTTTGTCATTCTTATCATTTTATAGATGAAGATGCCCACTGAGTTCTTTTGCAAGAGCAAAGGGTACCTATTTTGCAATGGAACTTGTCAACTGGGGAAAGAGGGACCAGCCTCACCTGTGCAGAATAGTAGAGTCAGGCCCTTCTGGGTGTCTCCAGTTAGCGCCTTTCACAGGTAACCACCAGGGAGCAGCTGCAACCTCAAAGCAACCCAGAACAGGCTGATGTTAGCTACTAACATCAACTCTAGAAAAATATCAACTCAGTACATGCAGCAAAAATCTCAATGTCTTCAACTTCCATTTGGATTACCAAACAAATACATTTGCCAGAATACCAAAATAAAGACTTATATGTAAATAAATCTTTAACAAAAAAAGTATTACTTCATATCATAAAGCCTCACAGCAAACAAATACATATGTATTTAAATGGTGTATATCTATAAGAATTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGGGGTTGCAATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAACCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGACTACAGGCACGTGCCAGCAAGCCCAGCGAATTTTTTGTATTTTTACTAGAGACAGGGTTTCACTCTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACCACACCCGGCCTCTGTAAGAATTTTTAAAAAGTGCATGGCTAGCCAATCCTCTATAATCTCTAACAAGTGAGACAGGTAGTGCTGCTCCTATTTAAAAGATGAGGAAACAGAGTTAACCCTACAATTAAATGTGAGGCTAAAGGTCAACCATGGTGGTCAGAGATCAAGCTGAAGCACAGAAGAAAAAATGGGGTGTATTTTCAAAAGACCCCGATTCAACTTCCAACCCAACATTAGCTGGGTGACCCTGGGCAAGTTCACTACTTGTCTGGACCCTCCTAGTCCTTGTCTGTGAAATGGGAGCACACCCACCTGCCTCACCTAACTCAGAATACAGAGGTCAAGTGAGGTAAGATTGGAAAATGCTCAGCAAACAGTAACTAGAACCTTAACTCCTACTTTATGGTTCTGTTAACCAAAATAACAACAGTCAGGAGTCCTCATTTAGTGAGTGGTTTAGTTAGGAACACAGGCTTTGGAGCCAGTCAAAATGAGATTTGAATCATGGCTCTGCTGTTCACGGTGTGACCCTAGGCAACTTATTTAACCTCTTTCCCCAAGCCTGTTTTCTCATGTGGGGATACAGATAGTAACAGCACCTATATCTTGGGTTATTACAAGGAGGAAATATAATACGCATACAGGACTTATGACTATGCCCTTAGCAACTGAGGTTAATGACTCAGCAAGCACTCAGTAAAGGGAACCAGTCTCACTATGGCCCCATGACACTCAGTCACAAGGAGAGCCACAAAAACTAATCATTGTTGCTAATACTAGCTAAAGAACAGATGTTGCAAATGATTCTTTTTGAGACAGGGTCTCACCCTGTCCCCTAGGCTGGAGAACAGTGGCACGGTCATGGCTCACTGCAGCCTTGACCTCCTCAGCTCAAGTGATCCTCCCGCCTCACCATCCCAAGTACCTGGGACCACAGGTGTGCGCCACAATGCCCAGCTAAATTTTTTGTATTTTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTACTGGGCTCCAGTGATCCCTGCCCAACTTGGCCTCCCAAGGTGCTGGGATTACAGGTGTAAGCTACTGCACCTGGCCTGCAAATGATTCTTCTAATACAAATACAAATACAAAAGAAAGTGACTCAAGGTTATCCCCACAACAATGTTACTCTTTGATTGTTTTCATCCTTTTGAGCTTGTCTGAGTAGAAGTTAAGGGAGAATATGTCCCTGCTAACAATTACAGCAATCACTGAAAACACCAAGCCCCATTCTTGTTCATTCTCTTTTCACATCAACACAATCAGAACATTCATGATATCTCAATCACAATTTGATGGGAAAACCCAATTTTTAAAATATTTCAACAAAAGAAGGCATTAGGTCCTTAAATGACACTATAGCAAGGTGTTTTATTTTACAGAGAACAGGGGAGTGAAGAGGCATGGCTTCTTTCTATTTCATTTGTGGCGCTGTAGAAGTTCCTCTGGGGGCTGT
CAACCGCATCATTCCAGGACACATGGAGAACTGGATGATCCGGCCTGGGGAAGAGCAAAAGTAGAATGAAAAGTGACACCAATCAGAACAAGAAGCAGGAGCTGGCTTCAGCAAAGCGCCCATAATCCCCCTCAGTTCAATCTGTGACACTGAGGTCATCCTGGTCCTTAAGTCAAACCCCAGCCATGCTACATCTGTCATGCTCCACCAACGGTTTCTGACAACCCAGGCTCCCAAATGGGTTACAGTTCCACTGGGAACTAGACTCAAAACATTTCTTCACTTTGTAGGCTCGGATTCCCACAGAATGTCATTGGTATGGCAGATGCGGAGATACTCCAGCTGCTAGGAGGGCCAGCAGGAGCTTTCAGCTCCTTTGGGGTTCAGCAGAGCTGACAGCCATCTCAGAGAAACCAGTGACTAACCAACCACAGCAGGGGCATACAGAGCCAGCCATTTCAGCCTACAGTGGCTCAACCTATGGGCCATATACACCCTAGAGGCCCCTGTGTTGGGTGGAGCTTGGTTGGACCTGCATTGTGGCTTTGACTTCTCCCTCTGCCCAGTCCTGCTCTGGCCCCTGCTTTCTACAGGTGTGGGGCCCTAACATTCTGCATCCTAAACTCTGTTTCAGCCTCTGTTTCCAGAGAACCCAACCTGTGACCCTTGGCTTTCAATTCTGTGTCTTTCTACTTTTCCTCTACAAGAGGCCGGTCTTTTTTTCCTGAGGGTATAAAGGGTGTGGAAGTTTGGGGAAAAAAAACTGAGAAAAAGGGGATAGACTCATTCACCCAGCACTAGATGGCTTTGGCTGAATTCCCTGCTCACTTTTTTAAAAGTGGGCTACAAATTCCTAGTCCATTCCTTATACACCTTTGAATTCCCCACAGTAATTACACCAGGCCTTTCATTTATTCTTTCAACAAACATCTACTGAGTACCTATCATGTGCCAGTCACTGTTTCCAGCACAGACAACAGAGGTACTCTTCTCAGAAGATCCATCGGTGTTGACTGCATGGATAACATACATTCCCCTTTTGGGTTTTCCTTCCTCCCTTAGCATTTTCCTCTGTTACTAAATTCAGGAAAGCAGATATTAACTGGGAGCTAAGAAGCCAAGTCCACCTGAGAAACCCAGGAATCCTATGACTTTCCACCTCGAAGCCTAATTGCAGCACAGCGGCTTCCAATTGAGGCTTTGAAAGATGTTTGACATTTGTCAAGGGGCTATATCCCTAAAGCTGAACTTCCTATACTCGCAGCTCCCCGACAATAAGGGCAATAACCAGGAATGTTGTTAAAAATAGAGACTTAAAAACTGCATCTGAAAAATTAGGTTAGGAGAGCAGGTTTCTTGGGCTGCTGAGATGCTGAGTCCTAACCCAAACCTTGCTCAATCTCCAGGGTTTAAAGTGTTACTCTATTTTTGCTTGAGATAATTATTTCCTTGCCACCCTGGAGACTTGCTGACCGACTTGGCTCTCTGTGGTTTTCCAGTTAGATGGTGGCTTCAAAGAATTCCAATCTGGAACTCAAGATCATGTGAATCCTATACCCAAGGCCTGGGCTTCCACAGTGGCAACCTGGGAGGACACAATTACTTATCCATAAGACAGACGTCTTCTTCCTCATAGACCCGCTAATAATGGAAACAGAATGTAAAGATTAAACATGTCATGAGGTTTGGAATAGGCCTCTCAAAAGGAGCAGGGAAACTGGGAAGAGGCAACTCTTTGACAAGCCAAATGAGGAGAGAAAGAGGCCACTAATTAAGAGCTTTCTTATGAGCAAGGTGCAGTGTTTGGGTCTTTACATACGTTATTTCCCACCATCTTATTTTCCTACCAATCAATTACAGTTTGTCATTCTTATCATTTTATAGATGAAGATGCCCACTGAGTTCTTTTGCAAGAGCAAAGGGTACCTATTTTGCAATGGAACTTGTCAACTGGGGAAAGAGGGACCAGCCTCACCTGTGCAGAATAGTAGAGTCAGGCCCTTCTGGGTGTCTCCAGTTAGCGCCTTTCACAGGTAACCACCAGGGAGGAGCTGCAACCTCAAAGCAACCCAGAACAGGCTGATGTTAGCTACTAACATCAACTCTAGAAAAATATCAACTCAGTACATGCAGCAAAAATCTCAATGTCTTCAACTTCCATTTGGATTACCAAACAAATACATTTGCCAGAATACCAAAATAAAGACTTATATGTAAATAAATCTTTAACAAAAAAAGTATTACTTCATATCATAAAGCCTCACAGCAAACAAATACATATGTATTTAAATGGTGTATATCTATAAGAATTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGGGGTTGCAATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAACCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGACTACAGGCACGTGCCAGCAAGCCCAGCGAATTTTTTGTATTTTTACTAGAGACAGGGTTTCACTCTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACCACACCCGGCCTCTGTAAGAATTTTTAAAAAGTGCATGGCTAGCCAATCCTCTATAATCTCTAACAAGTGAGACAGGTAGTGCTGCTCCTATTTAAAAGATGAGGAAACAGAGTTAACCCTACAATTAAATGTGAGGCTAAAGGTCAACCATGGTGGTCAGAGATCAAGCTGAAGCACAGAAGAAAAAATGGGGTGTATTTTCAAAAGACCCCGATTCAACTTCCAACCCAACATTAGCTGGGTGACCCTGGGCAAGTTCACTACTTGTCTGGACCCTCCTAGTCCTTGTCTGTGAAATGGGAGCACACCCACCTGCCTCACCTAACTCAGAATACAGAGGTCAAGTGAGGTAAGATTGGAAAATGCTCAGCAAACAGTAACTAGAACCTTAACTCCTACTTTATGGTTCTGTTAACCAAAATAACAACAGTCAGGAGTCCTCATTTAGTGAGTGGTTTAGTTAGGAACACAGGCTTTGGAGCCAGTCAAAATGAGATTTGAATCATGGCTCTGCTGTTCACGGTGTGACCCTAGGCAACTTATTTAACCTCTTTCCCCAAGCCTGTTTTCTCATGTGGGGATACAGATAGTAACAGCACCTATATCTTGGGTTATTACAAGGAGGAAATATAATACGCATACAGGACTTATGACTATGCCCTTAGCAACTGAGGTTAATGACTCAGCAAGCACTCAGTAAAGGGAACCAGTCTCACTATGGCCCCATGACACTCAGTCACAAGGAGAGCCACAAAAACTAATCATTGTTGCTAATACTAGCTAAAGAACAGATGTTGCAAATGATTCTTTTTGAGACAGGGTCTCACCCTGTCCCCTAGGCTGGAGAACAGTGGCACGGTCATGGCTCACTGCAGCCTTGACCTCCTCAGCTCAAGTGATCCTCCCGCCTCACCATCCCAAGTACCTGGGACCACAGGTGTGCGCCACAATGCCCAGCTAAATTTTTTGTATTTTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTACTGGGCTCCAGTGATCCCTGCCCAACTTGGCCTCCCAAGGTGCTGGGATTACAGGTGTAAGCTACTGCACCTGGCCTGCAAATGATTCTTCTAATACAAATACAAATACAAAAGAAAGTGACTCAAGGTTATCCCCACAACAATGTTACTCTTTGATTGTTTTCATCCTTTTGAGCTTGTCTGAGTAGAAGTTAAGGGAGAATATGTCCCTGCTAACAATTACAGCAATCACTGAAAACACCAAGCCCCATTCTTGTTCATTCTCTTTTCACATCAACACAATCAGAACATTCATGATATCTCAATCACAATTTGATGGGAAAACCCAATTTTTAAAATATTTCAACAAAAGAAGGCATTAGGTCCTTAAATGACACTATAGCAAGGTGTTTTATTTTACAGAGAACAGGGGAGTGAAGAGGCATGGCTTCTTTCTATTTCATTTGTGGCGCTGTAGAAGTTCCTCTGGGGGCTGT
Task1_train_5876
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.
Pathogenic; Multiple sulfatase deficiency
CTTGGCGCGGTGGCTCACGTTTGTAATCCCAGCACGCTGGGAGGCCAAGGCAAGCGGATCACAAGGTCAGGAGATTGAGACCATCCGGGCCAACATGGTGAAACCCCATCTCTATTAAAAATACAAAAATTAGCTGGGTATGGTGGCGTGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAAGGAGAATCATTCGAACCCAGGAGGTGGAGATTGCAGTGAGCGGAGATCGCGCCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCGTCTAAAAAAAAAAAAAAGAAAAGAAAAAAGAAAGAGAGATTGATTATCAATTACCAGGCAAGTTAGAGAGGAATTAATATCAAGTATGGCCAATACACACTAAAACAGTAATCAGGAGTCTTCAACACACAAAAGATAAACAGTACTGCAGGACATGCTCTAAGGGTAACAGGAAAAAAAGTAAAGGCCAAAAATTATACAGGATGGAAAAACAATGAGAAGCCCAGGTATCAACCTCCTACACTCTACACCTGAGAGACTAAATCATGGTCCTGACCCCATCACCCTCACAGTCCAGTTGGGGAGAGACATCAGCAGAAAAACATCTTTAATAATTGTTATGTCAGAATAAACACATAACTACTGAGGCAGGATACGGAAATATTGAAGGGGAGAGAAAGAGGAGATCAGGTAAAACCTACTGTGGATGTTACCTCTCACCTAAGTCCTAAATATTGGTCAGGATTAACCCAAAGGAAAGAAAAATGGAATGGGAAAAGGATAGTGTCTGCTAAGTAAACAAGAAGGAGCACTAGTTTAGGAGTCAGAAGACCTGACCTTTAGACCCATAAGTTGTTTCGACAACACATCAATATGCAAAATACCGGGCAGACAGATTGAAGTAACAGTTATTTCTTTCTTTCTTTTTTTTTTTCGAGACGGAGTCTCGCCCTGTCGCCCAGGCTGGAGTGCAGTGGCAAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCCAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCGCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGTGAGCCACCGCGCCCGGCCAGTAAGTTATTTATATATCCCGGCACCTAACACATACAGGCGCTAAGCAAGACAGATAAATAATAGCAATAAAACAACTACAGTTTGCTTAGCCCTTCCTAAGTGCTAAAGTGCTAAGAATAGCAGGATAAACAATTCAAGCCCTTGTCCTCAAGCAGAGTGTACTCGAGGAGACTACAGATAAGTATACAACAACCCTGGTGAAGATACTGAGACCCAGGATCCTAATTTATTCCGTTAATAAGAGAGGAAATGGTGATTTAAACCATAATTTGATTGCCTTAAAATTATGAGATCCTCATTAAGAGAACAGGTTGGAGGGAGAAAGAAATAGGGGGTAAAGAAGTAACAATAACCCTCAAACCAAACTCCCTAATGGTCAATTAAATGGAGTCTTCCGGTGAGGCACGGAGAAGGAACTCCTCATACGGGAACAGCAGGTGCTCGATTTGGGGTGTGGTTATAACCTTTACTTCCCTTCCTACTAGTGCCTTGCTTTGCCTACTCCAACCCCGTCCAGGAACCGAGCAGCCCCCACCCGCCTCGGAGGAATCGATGGAGCACCTTTGAGTGCGCGAGTTGCCGCTCTCCGGGTACGGGGCCCGGAGCGTTAGCCTCCCGCGAGTATCGGTGAGCGGCTGCCGAACTGCCATGGGCGCCAGGCCGCTGGGGCGTGCCGCAGCCGCAAGAACCCGCAAGGGACCCCGCGCCCGCACCGGTCCCGGCCTCCTGGCTCCCTGCCGCTCCACACAGCAGCGAGAGCAGCAGCAGCAAGAGGACGAGACCCAGCTCAGGGCAACGTCCACACACCAGCCCTAGTGCGGGCGCAGCCATGTTGTCCCGCGGGCCATGTGACCCGGTTGGTCACGTGGCTGAGCCCTCCTTAAAGGGGCAGAATTTTGAGCTGACTTACGAAGTGACCAGGAGAGTTGCTCTTCACCTTTCTTCAGGTACTTCTTTGGCGCTGCTGCTTGCCTGTGCTAACGTCAAAACGCAGCAAAACACAAAACTCCACAAAACTCAAGGCCTTCCACAGACCGTGCACCCCTTTATGATTTCTTGGTTGAAAAATAACAGTCAAATTTGCTGGGCATTTGGTAAGTGCCAGAGTACTATGCTAAGCACTTCACTTTTTAAAATCTCATTTAATCCTCACAAAGACCCAGTAATGGCGCGCTTGTAGTCCCAGCTAGTCGGGAGGCCAAGGCAGGAGAATCGTTTGAACCTGGGAGGCGGAGGTTTCAGTGAGCCCAGATCCCGCCACTGCACTCCAGCCTCGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAGAGAAATACAATACGGAATCAGAATCCGTGGGGACTGGACACAGCAATCCAGGGTTTCACAAGCTCTCCAGATGATTCTAATCCACACTTAAGTTTAAGAACCACTGTTCTACAGTTCCGTAATCGAACAAAATGCAAAACCAAAACAAAAAGAAGATGAAGGAGAAACTTACAGATTAAAAAACAACATAGCAGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCCGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAATCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATGGCGCCACCGCACTCCAGCCTGGGGACAGAGCAAGACTCCATCTGAAAAAAAAAAAAAAAAAAAAAACATAGCAGCCAGCTGCAATATGTGAACCTTATCTAAATACTAATTCAAACCTACTGAGTTCAAAATTTTTGAGATAATCAGGGAAATTTAACCACTAAGTCAAATTATAATATTTGATAAAATTAAGGAATTGCTGTAAATTTTGTTTTTAGGCTTTTAGGAGTAATAATGGTATTTGTGGCTATATTTTTTAAAAGAATCCCCTCACTGAGGTACACACACACTCACTGAGGTATACACACACACACACACACACACACACATATATATATATGGATAAAAATATAGGCAGTCAAAGATTTGCTTCCCAAAAAATGGGTAATCAGGGTCTGGCTAAAGATGAAGCATGATTGGCCATGAGTTGATAACTGTCATAGCTGGTTGATGGGCATCTGGGTGTTTATTGCACTATTCTAATGTAGCATCTGTTTGAATTTTTTTAGCATAAAGAAAAGACCAGCCAGGCACCGTGTCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCAGGAGAATCGCTAGAGGCCAGGAGCTTGAGACCAGCCTGGGCAACACAGCAAGACCTTGTCTCTACAAAAAATTAAGAAAATTAACTGGCCATGGTGACGCACACCGGTGGTCCTGGCTACTTCGGAGGCTGAGGCAGGAGGATCACTTGAGCCTGGTAGGCAGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCATCTCTCAAAAAAAAAAAAAAGGCCTTTTCTCCTTGTTGACTATTTTACAGTTTGCCAAGGCCTTTCACACATTTTCTCATTTGAGATTACAACCACTTGGCAAGAAATGTATTATTACTATACTCATTTCAAAATTGATGAAGCTAAAAGGTCAATGCCTTAACCAAGGTTGTATGTATTTACTGTGCATAATATATAGTCAAGGTCTAGGTCAACGGTAATCTTTGTTCGCCTCCTTCAAATATCAGTCTCAGCACATGCTGTGTCAGCTGCGCTTCAGAGACCTGAACTTCTTTGATTCCTGGTCCAGCTATACCATTAGGCTATAACCTCCATG
CTTGGCGCGGTGGCTCACGTTTGTAATCCCAGCACGCTGGGAGGCCAAGGCAAGCGGATCACAAGGTCAGGAGATTGAGACCATCCGGGCCAACATGGTGAAACCCCATCTCTATTAAAAATACAAAAATTAGCTGGGTATGGTGGCGTGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAAGGAGAATCATTCGAACCCAGGAGGTGGAGATTGCAGTGAGCGGAGATCGCGCCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCGTCTAAAAAAAAAAAAAAGAAAAGAAAAAAGAAAGAGAGATTGATTATCAATTACCAGGCAAGTTAGAGAGGAATTAATATCAAGTATGGCCAATACACACTAAAACAGTAATCAGGAGTCTTCAACACACAAAAGATAAACAGTACTGCAGGACATGCTCTAAGGGTAACAGGAAAAAAAGTAAAGGCCAAAAATTATACAGGATGGAAAAACAATGAGAAGCCCAGGTATCAACCTCCTACACTCTACACCTGAGAGACTAAATCATGGTCCTGACCCCATCACCCTCACAGTCCAGTTGGGGAGAGACATCAGCAGAAAAACATCTTTAATAATTGTTATGTCAGAATAAACACATAACTACTGAGGCAGGATACGGAAATATTGAAGGGGAGAGAAAGAGGAGATCAGGTAAAACCTACTGTGGATGTTACCTCTCACCTAAGTCCTAAATATTGGTCAGGATTAACCCAAAGGAAAGAAAAATGGAATGGGAAAAGGATAGTGTCTGCTAAGTAAACAAGAAGGAGCACTAGTTTAGGAGTCAGAAGACCTGACCTTTAGACCCATAAGTTGTTTCGACAACACATCAATATGCAAAATACCGGGCAGACAGATTGAAGTAACAGTTATTTCTTTCTTTCTTTTTTTTTTTCGAGACGGAGTCTCGCCCTGTCGCCCAGGCTGGAGTGCAGTGGCAAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCCAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCGCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGTGAGCCACCGCGCCCGGCCAGTAAGTTATTTATATATCCCGGCACCTAACACATACAGGCGCTAAGCAAGACAGATAAATAATAGCAATAAAACAACTACAGTTTGCTTAGCCCTTCCTAAGTGCTAAAGTGCTAAGAATAGCAGGATAAACAATTCAAGCCCTTGTCCTCAAGCAGAGTGTACTCGAGGAGACTACAGATAAGTATACAACAACCCTGGTGAAGATACTGAGACCCAGGATCCTAATTTATTCCGTTAATAAGAGAGGAAATGGTGATTTAAACCATAATTTGATTGCCTTAAAATTATGAGATCCTCATTAAGAGAACAGGTTGGAGGGAGAAAGAAATAGGGGGTAAAGAAGTAACAATAACCCTCAAACCAAACTCCCTAATGGTCAATTAAATGGAGTCTTCCGGTGAGGCACGGAGAAGGAACTCCTCATACGGGAACAGCAGGTGCTCGATTTGGGGTGTGGTTATAACCTTTACTTCCCTTCCTACTAGTGCCTTGCTTTGCCTACTCCAACCCCGTCCAGGAACCGAGCAGCCCCCACCCGCCTCGGAGGAATCGATGGAGCACCTTTGAGTGCGCGAGTTGCCGCTCTCCGGGTACGGGGCCCGGAGCGTTAGCCTCCCGCGAGTATCGGTGAGCGGCTGCCGAACTGCCATGGGCGCCAGGCCGCTGGGGCGTGCCGCAGCCGCAAGAACCCGCAAGGGACCCCGCGCCCGCACCGGTCCCGGCCTCCTGGCTCCCTGCCGCTCCACACAGCAGCGAGAGCAGCAGCAGCAAGAGGACGAGACCCAGCTCAGGGCAACGTCCACACACCAGCCCTAGTGCGGGCGCAGCCACGTTGTCCCGCGGGCCATGTGACCCGGTTGGTCACGTGGCTGAGCCCTCCTTAAAGGGGCAGAATTTTGAGCTGACTTACGAAGTGACCAGGAGAGTTGCTCTTCACCTTTCTTCAGGTACTTCTTTGGCGCTGCTGCTTGCCTGTGCTAACGTCAAAACGCAGCAAAACACAAAACTCCACAAAACTCAAGGCCTTCCACAGACCGTGCACCCCTTTATGATTTCTTGGTTGAAAAATAACAGTCAAATTTGCTGGGCATTTGGTAAGTGCCAGAGTACTATGCTAAGCACTTCACTTTTTAAAATCTCATTTAATCCTCACAAAGACCCAGTAATGGCGCGCTTGTAGTCCCAGCTAGTCGGGAGGCCAAGGCAGGAGAATCGTTTGAACCTGGGAGGCGGAGGTTTCAGTGAGCCCAGATCCCGCCACTGCACTCCAGCCTCGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAGAGAAATACAATACGGAATCAGAATCCGTGGGGACTGGACACAGCAATCCAGGGTTTCACAAGCTCTCCAGATGATTCTAATCCACACTTAAGTTTAAGAACCACTGTTCTACAGTTCCGTAATCGAACAAAATGCAAAACCAAAACAAAAAGAAGATGAAGGAGAAACTTACAGATTAAAAAACAACATAGCAGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCCGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAATCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATGGCGCCACCGCACTCCAGCCTGGGGACAGAGCAAGACTCCATCTGAAAAAAAAAAAAAAAAAAAAAACATAGCAGCCAGCTGCAATATGTGAACCTTATCTAAATACTAATTCAAACCTACTGAGTTCAAAATTTTTGAGATAATCAGGGAAATTTAACCACTAAGTCAAATTATAATATTTGATAAAATTAAGGAATTGCTGTAAATTTTGTTTTTAGGCTTTTAGGAGTAATAATGGTATTTGTGGCTATATTTTTTAAAAGAATCCCCTCACTGAGGTACACACACACTCACTGAGGTATACACACACACACACACACACACACACATATATATATATGGATAAAAATATAGGCAGTCAAAGATTTGCTTCCCAAAAAATGGGTAATCAGGGTCTGGCTAAAGATGAAGCATGATTGGCCATGAGTTGATAACTGTCATAGCTGGTTGATGGGCATCTGGGTGTTTATTGCACTATTCTAATGTAGCATCTGTTTGAATTTTTTTAGCATAAAGAAAAGACCAGCCAGGCACCGTGTCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCAGGAGAATCGCTAGAGGCCAGGAGCTTGAGACCAGCCTGGGCAACACAGCAAGACCTTGTCTCTACAAAAAATTAAGAAAATTAACTGGCCATGGTGACGCACACCGGTGGTCCTGGCTACTTCGGAGGCTGAGGCAGGAGGATCACTTGAGCCTGGTAGGCAGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCATCTCTCAAAAAAAAAAAAAAGGCCTTTTCTCCTTGTTGACTATTTTACAGTTTGCCAAGGCCTTTCACACATTTTCTCATTTGAGATTACAACCACTTGGCAAGAAATGTATTATTACTATACTCATTTCAAAATTGATGAAGCTAAAAGGTCAATGCCTTAACCAAGGTTGTATGTATTTACTGTGCATAATATATAGTCAAGGTCTAGGTCAACGGTAATCTTTGTTCGCCTCCTTCAAATATCAGTCTCAGCACATGCTGTGTCAGCTGCGCTTCAGAGACCTGAACTTCTTTGATTCCTGGTCCAGCTATACCATTAGGCTATAACCTCCATG
Task1_train_5877
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?
Pathogenic; not provided
TATATATAGTATTATAATTATAGAAACATGCGTATAAGTCTCAATGGCTGTATATATGACTTGATCATAGACCATGTATTTCCGAATGTTATAGTAAAAATATGAAAGTAATTGTTTTAGAAACATAAAGTTATGGCTTTGTCAAAGATAAAGACTTACTCTGACTCTATCTTGTTTTTTCTTAAATTTAGTTAAAACTTACTTATATAGGTACCTTAAACTGAACAGTTTTTTTTTTTTTTCCTGCTCTGAACTGGCTTTGAAACATCTCTGTATAATCAGTGACACTCGAGGAACAACATTCAGGCTTAGCCTTGTAAACATGACCCCCTCTGCACAGGGTCAGGTTTTAAAGAAGGCGTGGTGTGTGCTACATCTTTATACTTGCTGGGGATAGGCCTTGCCTTCTTCAGCACAGACTCATATGTCTTCTAGAACTGCCCAGTGGTCAATCCGCAGTCCTTATCAGTTTTGTGCAAAGCTCTATTGCTCCTTTCCATTCCAGGTGGTCATAGGTGACAAGGTGGTTCTGAACCCCGTCAATGCTGGTCAGCCCCTACATGCTAGCAGCCATCAACTGGTAGATAACCCAGGCTGCAATGAGGTAAGGACATTGAGTTATGTGTGTGGGTGTGGTTATCCTGCAGGAGCGGGTCTGGCAGGCGCCAGTGCATGCGTGTGCTGAGAGTGACTTCAGCAGTGACTTGGGGCAGGGTGCCCATTCTGCAGGTGAAGAAACAGGCCCAGGGTCAAGGCTGCCGTGTAAGGTTGTGCAACTGTGTGCAGTGGGTAGTAGATGTGGGCTGATACTCACTCTAGTGCTCAGTTTGTGAAGCCTTGCGTCACTGAGGGGTTGTTTTTTCATTGGTGAAGCCAGAGATGAACCCTTTTACTAATTTTTTTCTGGCCATAGGAGCACCTTTTTCTAATTTGTCTCCATATACAGGGTGCCTCTTTTTAACTGTTCAAAAAGGAACACTGCAGCTTATCAGCAGCCCTGCAAGAGTGATAGCTTGCTTTTGGCAATACATCTACTTCTCCTCTAAATTAGCAATTATAGGATGCAAGGATGTTACTTCCTTGTGACATAAATATTTGTCTGATGGGTAAAGACATAAACTCTTCAGTGGGATAGATGTGGGTTCACATCCTGTCTGCCTTTCCAAGCTCTGTGACGGCAGGTTGGTTACCCGGTCTCCCTGCATATCAGTTTCCTTATCTCTGAAATGGGGGCGGCGGTCGGACCTATTTTTCAGGGTGTTGCCAAGAATTAAAGGAGATTGTGCGTGTTAGCACCTAAACCTAGTGCCTGGCACAGATTTAGTGCACAAACAATGGCTGCTGTTGTTAACAATGATCATTAACATTTTCGAGTGTATACACTGGACTCATTTTTTTTCCCTTTATGGCTCATCCCATTTTATAAGTACTTATTTTCATCAGGCCTTTACTTTCTGGCTACAGAACAAGAGACTTGGAGGAAAATGAAAATATCATTCCAGAAAGGCAGGAGGCTTGGTTCCATTAGTCATGGTTGGAATGTGCATAGTGATTGGTGCAAATGAACCATTTATTTCCAAACTCTGCCAGCAGGCCAGTTGATTTTGCAGGTGCTGTGATTTTAGTGGCGTCAATCTTTAGAGTTTTTAGTCTCAAGTACAGCCTTGCTTCCTAGGCTGCGGTGAGAAGTCTGGGGGCTGGATGACACAGTTGTTGTGAGGGGTACGTGAAAAAATAACTCGAATCTGTGTTTCAGGTCAATTCCGTCAACTGCAATACAAGCTGGAAAATAGTCCTTTTCATGAAATGGAGTGATAACAAAGACGACATATTAAAGGGGGTGAGTTTGATGCTTTATGGGCTGAGCATTACTTGGCTCTTCTTGGGGGCAGCAGTCTAATTCTCTTTTTAAATTCTTTTTTCCTTAATTCTTTCTTGTGTTGACTGTCAGGGTGACGTGGTGAGGCTGTTTCATGCTGAGCAGGAGAAGTTTCTCACCTGTGACGAACACAGGAAGAAGCAGCACGTCTTCCTGAGAACCACGGGCCGGCAGTCGGCCACATCTGCCACCAGTTCAAAAGCCCTGTGGGAGGTGGAGGTAAGGGTAGGGTGGAGAAAGGGCTCCTGGGTTTAGAGGATATCAGCCTGTATATAGGCTCTCTCTCTCTCTATCCTACAAATATTCATACATACATATACCTATATGTGTCTATACACCCACATACACACACCTACACACACACACAGAATACATGTGTGTGTATATATATAAGTCACAAACAAGTACTTATACCCACCTTATTCCAAAAATGGGTTGGGGATGGCATAGTGAAGTAAGTGCATCATGGCATATCATGGTGCTGCATATTTGTGCAGAAGGAAAGAATAAGTACTTTGGAAACAAATTCAAAAACGAAATTAGAAATAGCTTTCTCTGAGCCATCTAATCCCTTCTATTGTTTTCTTTCCCTTGCTCATTTATCTATCACAACAATATTTAACCAGGTGTCTACCTGACACAATACATAGGTGATGCCCACATTGGTGATGGGGCAGAAATGAGAAGATATACACCCAGATAACTGGAACACACAAGGGGATGGTGAAGGTGGTAAGAGGCATATTCCACATGCTCTGGAGGTTTCAGTGAGAGAGGGTGAATGTCTGGGTGGGTGAAGAATTAAGGAAGACTTCCTGAAGGAGATAGCATCTGATCTGGTACCTGCAGGATGATTTGTATTTCAGAAGGAAGAGATGAATGGAGTAGGTTACTTCATGTAAGAGAATGGTGCAGAATGTGGAAACGTGAAGCAGCGTGGGATAAAACTCAGTAACTTGTTTGGTGAAGGGCACGGGATAGGCATGGGAAATTAAACAGAACTGTTTTTGGAGACCAGAGGCTGAAGGGCCATATATCCAGGCTATAGGGAGTTGGGATTTAATTTATGGGCAGGGGAGAAATTTGGAAAGTTGTTTGAGGAAGGGAATAACATAATCAGTGTGCAACTTAAAGAAGCTAGAAGATTCTGCCCACAGCATGTAATTTGTTGTAAGGAGAGTCTAGAATTGCAGGACAAAGAAGGAAATGTTCTGAATGCTTGGTGAAAGAGGCAATGAGAGCTTCAACTAACATGGAGCTCTTTCTTCACCTCAAGCCTTCCTTTCTGTGTAATTGCAGCATGAATTAGAATTCTAATTCAAATTTCTAATTTGAATAGATAAATTTTTCTGTCTCTGCTTGCGTTCTCTTTTCCTCCTCCCTAGCTTCAATTGTTTCATGTTGCTACTGAGGTCTAGCCTATGTATAGTATAGTAAAGTGCCCAAGTCAAGAGTATACAACTCAATGAATTTTTACGTATACGTTCAGCCATGTAACCAGCACCTAGAACAAGAAATAGAATGATAGCAGCACCCAGAAGGTCCCTTGAGCCTCTCTTTCTAGGCAATGTTTCCTTTTTCCTCCTGGAGACTTCTATTGCCTGTTCTTGAACTTTGTATAAATGGAGTCATACAGTATACAGTCTTTATGTTCTGTTTTTTTTTCACTCAGTATAATTATTTTGAGATTCGTATATATTCTTGCATGTATCAGATTAATTTGTTCCTTTATATTACTGCATAATACTCCATCATATGGATACACCACAATTTGCTAATCTATTCACCTGCTGATGGACATTTGAGTTGTTCCCAACTTCTGGCTATTTCAAATAAAGCTTCTAGGGATATTTGTACACAAGTTTCTGTATGGATGTAACTTTTCTTCATTTCTCTGAATTAAATACCTAGCAGTGGATTGGCTGGATCATATGGTAGCCATGGTATGGTATGGTATGGCATGGTATGGTATGGCATGGTATATATTCAACTTTATAAGAAATTGCTAAACTGTTCTCCAAAGTGATTGGACCATTTTACATTCCCACAAGTAATGTGTGAGAGTTCTAGTTCTTCCATATCCTTACCAACACTTGGTATAGTCAGTCTTTTCAATGTTACTCGTTCTAGTAGGTACATAGTGAAATTTCAATGTGGGTTGGATTTGCATCCCCTGTTTGATTTAGTAGGTGTGTAGTGAAATTTCATTGTGGGTTT
TATATATAGTATTATAATTATAGAAACATGCGTATAAGTCTCAATGGCTGTATATATGACTTGATCATAGACCATGTATTTCCGAATGTTATAGTAAAAATATGAAAGTAATTGTTTTAGAAACATAAAGTTATGGCTTTGTCAAAGATAAAGACTTACTCTGACTCTATCTTGTTTTTTCTTAAATTTAGTTAAAACTTACTTATATAGGTACCTTAAACTGAACAGTTTTTTTTTTTTTTCCTGCTCTGAACTGGCTTTGAAACATCTCTGTATAATCAGTGACACTCGAGGAACAACATTCAGGCTTAGCCTTGTAAACATGACCCCCTCTGCACAGGGTCAGGTTTTAAAGAAGGCGTGGTGTGTGCTACATCTTTATACTTGCTGGGGATAGGCCTTGCCTTCTTCAGCACAGACTCATATGTCTTCTAGAACTGCCCAGTGGTCAATCCGCAGTCCTTATCAGTTTTGTGCAAAGCTCTATTGCTCCTTTCCATTCCAGGTGGTCATAGGTGACAAGGTGGTTCTGAACCCCGTCAATGCTGGTCAGCCCCTACATGCTAGCAGCCATCAACTGGTAGATAACCCAGGCTGCAATGAGGTAAGGACATTGAGTTATGTGTGTGGGTGTGGTTATCCTGCAGGAGCGGGTCTGGCAGGCGCCAGTGCATGCGTGTGCTGAGAGTGACTTCAGCAGTGACTTGGGGCAGGGTGCCCATTCTGCAGGTGAAGAAACAGGCCCAGGGTCAAGGCTGCCGTGTAAGGTTGTGCAACTGTGTGCAGTGGGTAGTAGATGTGGGCTGATACTCACTCTAGTGCTCAGTTTGTGAAGCCTTGCGTCACTGAGGGGTTGTTTTTTCATTGGTGAAGCCAGAGATGAACCCTTTTACTAATTTTTTTCTGGCCATAGGAGCACCTTTTTCTAATTTGTCTCCATATACAGGGTGCCTCTTTTTAACTGTTCAAAAAGGAACACTGCAGCTTATCAGCAGCCCTGCAAGAGTGATAGCTTGCTTTTGGCAATACATCTACTTCTCCTCTAAATTAGCAATTATAGGATGCAAGGATGTTACTTCCTTGTGACATAAATATTTGTCTGATGGGTAAAGACATAAACTCTTCAGTGGGATAGATGTGGGTTCACATCCTGTCTGCCTTTCCAAGCTCTGTGACGGCAGGTTGGTTACCCGGTCTCCCTGCATATCAGTTTCCTTATCTCTGAAATGGGGGCGGCGGTCGGACCTATTTTTCAGGGTGTTGCCAAGAATTAAAGGAGATTGTGCGTGTTAGCACCTAAACCTAGTGCCTGGCACAGATTTAGTGCACAAACAATGGCTGCTGTTGTTAACAATGATCATTAACATTTTCGAGTGTATACACTGGACTCATTTTTTTTCCCTTTATGGCTCATCCCATTTTATAAGTACTTATTTTCATCAGGCCTTTACTTTCTGGCTACAGAACAAGAGACTTGGAGGAAAATGAAAATATCATTCCAGAAAGGCAGGAGGCTTGGTTCCATTAGTCATGGTTGGAATGTGCATAGTGATTGGTGCAAATGAACCATTTATTTCCAAACTCTGCCAGCAGGCCAGTTGATTTTGCAGGTGCTGTGATTTTAGTGGCGTCAATCTTTAGAGTTTTTAGTCTCAAGTACAGCCTTGCTTCCTAGGCTGCGGTGAGAAGTCTGGGGGCTGGATGACACAGTTGTTGTGAGGGGTACGTGAAAAAATAACTCGAATCTGTGTTTCAGGTCAATTCCGTCAACTGCAATACAAGCTGGAAAATAGTCCTTTTCATGAAATGGAGTGATAACAAAGACGACATATTAAAGGGGGTGAGTTTGATGCTTTATGGGCTGAGCATTACTTGGCTCTTCTTGGGGGCAGCAGTCTAATTCTCTTTTTAAATTCTTTTTTCCTTAATTCTTTCTTGTGTTGACTGTCAGGGTGACGTGGTGAGGCTGTTTCATGCTGAGCAGGAGAAGTTTCTCACCTGTGACGAACACAGGAAGAAGCAGCACGTCTTCCTGAGAACCACGGGCCTGCAGTCGGCCACATCTGCCACCAGTTCAAAAGCCCTGTGGGAGGTGGAGGTAAGGGTAGGGTGGAGAAAGGGCTCCTGGGTTTAGAGGATATCAGCCTGTATATAGGCTCTCTCTCTCTCTATCCTACAAATATTCATACATACATATACCTATATGTGTCTATACACCCACATACACACACCTACACACACACACAGAATACATGTGTGTGTATATATATAAGTCACAAACAAGTACTTATACCCACCTTATTCCAAAAATGGGTTGGGGATGGCATAGTGAAGTAAGTGCATCATGGCATATCATGGTGCTGCATATTTGTGCAGAAGGAAAGAATAAGTACTTTGGAAACAAATTCAAAAACGAAATTAGAAATAGCTTTCTCTGAGCCATCTAATCCCTTCTATTGTTTTCTTTCCCTTGCTCATTTATCTATCACAACAATATTTAACCAGGTGTCTACCTGACACAATACATAGGTGATGCCCACATTGGTGATGGGGCAGAAATGAGAAGATATACACCCAGATAACTGGAACACACAAGGGGATGGTGAAGGTGGTAAGAGGCATATTCCACATGCTCTGGAGGTTTCAGTGAGAGAGGGTGAATGTCTGGGTGGGTGAAGAATTAAGGAAGACTTCCTGAAGGAGATAGCATCTGATCTGGTACCTGCAGGATGATTTGTATTTCAGAAGGAAGAGATGAATGGAGTAGGTTACTTCATGTAAGAGAATGGTGCAGAATGTGGAAACGTGAAGCAGCGTGGGATAAAACTCAGTAACTTGTTTGGTGAAGGGCACGGGATAGGCATGGGAAATTAAACAGAACTGTTTTTGGAGACCAGAGGCTGAAGGGCCATATATCCAGGCTATAGGGAGTTGGGATTTAATTTATGGGCAGGGGAGAAATTTGGAAAGTTGTTTGAGGAAGGGAATAACATAATCAGTGTGCAACTTAAAGAAGCTAGAAGATTCTGCCCACAGCATGTAATTTGTTGTAAGGAGAGTCTAGAATTGCAGGACAAAGAAGGAAATGTTCTGAATGCTTGGTGAAAGAGGCAATGAGAGCTTCAACTAACATGGAGCTCTTTCTTCACCTCAAGCCTTCCTTTCTGTGTAATTGCAGCATGAATTAGAATTCTAATTCAAATTTCTAATTTGAATAGATAAATTTTTCTGTCTCTGCTTGCGTTCTCTTTTCCTCCTCCCTAGCTTCAATTGTTTCATGTTGCTACTGAGGTCTAGCCTATGTATAGTATAGTAAAGTGCCCAAGTCAAGAGTATACAACTCAATGAATTTTTACGTATACGTTCAGCCATGTAACCAGCACCTAGAACAAGAAATAGAATGATAGCAGCACCCAGAAGGTCCCTTGAGCCTCTCTTTCTAGGCAATGTTTCCTTTTTCCTCCTGGAGACTTCTATTGCCTGTTCTTGAACTTTGTATAAATGGAGTCATACAGTATACAGTCTTTATGTTCTGTTTTTTTTTCACTCAGTATAATTATTTTGAGATTCGTATATATTCTTGCATGTATCAGATTAATTTGTTCCTTTATATTACTGCATAATACTCCATCATATGGATACACCACAATTTGCTAATCTATTCACCTGCTGATGGACATTTGAGTTGTTCCCAACTTCTGGCTATTTCAAATAAAGCTTCTAGGGATATTTGTACACAAGTTTCTGTATGGATGTAACTTTTCTTCATTTCTCTGAATTAAATACCTAGCAGTGGATTGGCTGGATCATATGGTAGCCATGGTATGGTATGGTATGGCATGGTATGGTATGGCATGGTATATATTCAACTTTATAAGAAATTGCTAAACTGTTCTCCAAAGTGATTGGACCATTTTACATTCCCACAAGTAATGTGTGAGAGTTCTAGTTCTTCCATATCCTTACCAACACTTGGTATAGTCAGTCTTTTCAATGTTACTCGTTCTAGTAGGTACATAGTGAAATTTCAATGTGGGTTGGATTTGCATCCCCTGTTTGATTTAGTAGGTGTGTAGTGAAATTTCATTGTGGGTTT
Task1_train_5878
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.
Pathogenic; Spinocerebellar ataxia type 29
GCTTTATGAGAAATCATAAAGCATGAGTGGTAGCTCATGCCTGTAGTCCCAGCACTTTGGGAAGCCGAGGTGGGAGGATCCCCTTGAGCCCAGGAAATGGAGGTTGCAGTGAGCTGATCGCATCACTGCCCTCCAGCCTGGGTGACAGAGAGAGAGCCTGTCTCAAAAGAGAAAGAAAAAGAGAAATCAATGGGATCATTGAGGGATATTGGTGATTCCCACCTCAAAGGCTTGATGAATTGATTTTTCAATAGACTATTTTCTAGAGCAGTTTTTAGGTTCTCAGCAAGATTGTGCAAAAAGTCCAGAGAGTTCCCATATCTCCTCTTGTCCTCACACACTTGGCCTCCCCCACTACCGACATCCTACATCACAGTGAGACATTTGTGACAATTTGGGGAATCAACATTGATACATCATTATCACCTGAAGTCCATAGTTTACATTAGGGTTCTCTCTTGGCATTTTATTTTCTATGGGTTTTGATAAATGTATGATGCCATTTAGTCACCATTAAAATATCTTACAGAATAGTTTCACTGCCCTGAAATCATCTGTGCTCCTCCTATTTGTCTGTCCTTCCTGCTAACCCTTCACAGCCATGAACGTTCTTACTGCATGCATTGTTTTCCCTTTACAGAATGTGACATGGTTGGAATCAAACAGTATGTACCCTTTTCAGAGGGGCAAATTTCACTTAGTGATATGCATCCAAGGTTCTTCAGTGTCTGTCCATGGCTTGATAGTTCAGTTCAATTGATTTTTAGCGTACTTGTTGGATATCAATCATGTGAGAGTTTACCTGTTAGGAACCTCAAGAAACATTCAGCTGACAACTTTATTTTCCTCAAAAATAATGTAAAGTTCAATGTGACCTTAAGGTTATTTCATACATTTGGGAGATTTGGCATATTCTATAAACTCAGAAGGCCCATATAGGCTCTTATAGAGTGCCCTATAAGTCACCACAGAATCTTTCCGTAAAGAATGAGTAGTGGTTGACAGGAAATACATAGATGATATTGTTGGATGTAAATGTAAATAAACTGGTATAAAGACAAATTAGAGGCAGTAAAGTGACAAATCCAGAGTAGATTAAATGCACAGAGATGCATACCATGTCCTTCTGTAACCCAACTGGAGATTAGCCCACAAACTTGCCACCGGAATTCCTGGCCACCAAAGCTAAAAGAGAAACATATTAGTTACAAGTCCCACTGGTCCCCATGGAACAAGGGATTTGAGATTATTTTTTCATGTTGGTCTATGATAGACAGAATTTATTAACAATCCATCTTGTTTCAACAAGAATTTCCAGTTCAAGAGTAAATGTCCAGCTGTTGTTTCATGTGATGATTCTCAAATTAGACCTCTGGCTTAATGCCCATGCTCATTTGTACAATAGTAATTCCTGAGAGGCAAAAAATAACTGACTCACTGGCAGGAGCCTTCATTGATTACTTGTGCTGGGCACTAGTGCGACTTAAAATTATCATCCATTTTCATCCTTACTACACCTCTGTGATATAGGCATTATTCTTTCCATTTTGCTGGTAAGGAAATGCGGGTTTACTTTGACTGTAATCTGTACTGCTAGGGAGTAATAAAGGCTTGTGTTTCCACCTAGAATCTGCTGATTCCATTGTCTGTGTTCTTAAACGCTTTGCTCTAAGCACTGTGCTGTTAGGTGTATGAGGACCAGTGGAGTCCAGTAGACTTAATTCAGCGCGTCTCCCATCTCAGTTGATGGGCTGAATGCAGTGTTCAGGTTATGGATGTGTTGGGATAGAGAAATTTTCTAATGTAATCCAGCCACCCTTGAGCTTGCATTACTTCCAAACAGAGGGTTAGCTTTGAAGCCCTAAGTGATTGCCATTTTTGCTTTTCATTTTCACAAACAGATCTTCAAGTTGTTACAAGCCCCATTCACAGACTGCGGTGATGGCCCAATGCTTCGGCTGGAAGAGCTCGGGGACCAGCGGCACGCTCCTTTCAGACACATCTGCCGGCTCTGCTACAGGGTGCTGAGACACTCGCAGCAAGACTACAGGAAGAACCAGGTTTGGATTAAGCATTGGTGGGATGTGGTTGTCAGTTTCCTCCCTGAAGTTTGTGAACTTTCCTCCTGAGTTTTTAGTGTCACATGTCTATTTATAGAATGGATGCAGAATAGTTCAGTGTTGAGCTTGCTCTTGGGAAGGAAACACAAGCCCAGGAAGAATATTATTACCTAATCGTTAAGAAACGTACTGGAGAATTCTCTTCTGCAGACATCTTTCTATGAGATTTCTGGTTTTGGAGTTGGTTTTACATTTATAGAATTTTTTATGACGTATTCCCTTAGGGCTTAGGGGTGAAATGATGCCATGTGTTTATATTAAAGATATAGTGGAGTCTTTTCTTCCTGCACCTTTAAAATTCTCCGTCTCTTTCTAGAAACATGATCTTTATTTTGTTTCTGATTCATGTTTTATGACATTCTAAGTCATTGTCTATAGAGATATCTTATACATAGTTATATTTTACATATTATACATAGTATATGTGTATTTATATACACACACAATGTATAGTCTCCTATGAAATAAATGTCCTAGGAGCTCCAAACAACCTTCAGATTCTAAGAAAACCTGAGAACTATATTGCTACATCATTGGTTCTTAACTGGGGGTAATTTTGTCCCCCAAAGAATATTTGGCAACATCTGGAGACCCTTTTGAGTTTTATAACTTCATGGTGCTGCTGGCATCTGGTGAGGGGAGGCTAGGGATGCTCTCAAACACCCAGCAGTGCCAAGGACATCCCCACACAACCAAGAATTATCCTGCCTAAAATGTCAGTAGTGCTGAGGTTTAGAAAATTTGTGCCACATGGAGTACCGTAGGCATGCAAAATGATGCTTATCATAACCTTGACTCTTACCACTTTATGTGAACTATCCCTGCCTTTTGGGGCAAAAGGCTTTTGTTTTTAAGGTTTTGACTGCCACTATACTGGACTTTTAGAGTTTTTTCTTTGTAATTAAAGGTTTTTGTCATGTCATCATAAAGATAGTGTTGATCTTGAATAGTGCTTTTTTTGAAGTGTATCAAGCTGTGATTGCTTTAAATCCACCTTCAGTGCGTTGATACTGTAATCCAATAGCCAGAGAGATTTTATTCTGTTCCTCTCTCCCATCTTCAGATGAGGATACATCTGGGTCTGTGGGGTGTGTCAAGACACTTTGCTTGTACATGAGGAAACAAACTAGTTACTCTTGGAATTGCTGGATTAGACATCTTTGCTTAGTTGTTTTCGGATCCTTTACCAGTTGGCAGATGATAAGTTCCTACACAATGCCTCCTTATAGAATACAGGCTGAAAACCATGGCCTGTTTTCATTATGTTAATCCTAAATAGTTAACCGGGATTTAGGAATTAATGGGAAAAAAATTAAAGCAAGTTTCAAGGGCCACTTGAATTTTGAGCAAGCAGTCTATCTTGGCCAGGGAAGCATCTTTGAACAGAAACAAACAGGTATTTGTAAGAGATTTCCTTGAGTTCACAAATATTTCTATGGAATGTGATAGCTGATCCCAAAAGAGAGAAACCAGAGATGTATTCATGAGTTCCATGCATATGATGGATTTTCTTAGGTATTTATTCCTGACCTTCTTATGCTACTCATTGACTTTAAAAAAGTATTTTTACCACAAATAAAGGAAATGAAACAGGGTAACATTGTTCCAGATCTCCAGGTAGGCTTTATCTGTGTTTATTTAGCAGCACAGATCACTGGGGGCACAGTTAAGTCCTCTTGAATTAGGAATACGTTTAGAGCTGAAAACCAGCTTTGGACCTTTTTGAAAAATAAATCACTAGATTAAAATTTATACTGTGCACTTAATAAAATATCCACGTGTAAATACAGGCTATTTTGCTTAATTACATTTGTGTGGCAGGCTTAGAAAAGTAAAGGATGTGAAGGAGTTTGCAGCTGTTGCCCTAGGATAGAAAGTTGTAGGAAGACCCTCCCTTATACTGTAATGTCTCTTAGGGGCAGTAGTTCTCATCAGGAAACATTGCTGCTTTCTTTAGTCTACGCTTAACCATATTG
GCTTTATGAGAAATCATAAAGCATGAGTGGTAGCTCATGCCTGTAGTCCCAGCACTTTGGGAAGCCGAGGTGGGAGGATCCCCTTGAGCCCAGGAAATGGAGGTTGCAGTGAGCTGATCGCATCACTGCCCTCCAGCCTGGGTGACAGAGAGAGAGCCTGTCTCAAAAGAGAAAGAAAAAGAGAAATCAATGGGATCATTGAGGGATATTGGTGATTCCCACCTCAAAGGCTTGATGAATTGATTTTTCAATAGACTATTTTCTAGAGCAGTTTTTAGGTTCTCAGCAAGATTGTGCAAAAAGTCCAGAGAGTTCCCATATCTCCTCTTGTCCTCACACACTTGGCCTCCCCCACTACCGACATCCTACATCACAGTGAGACATTTGTGACAATTTGGGGAATCAACATTGATACATCATTATCACCTGAAGTCCATAGTTTACATTAGGGTTCTCTCTTGGCATTTTATTTTCTATGGGTTTTGATAAATGTATGATGCCATTTAGTCACCATTAAAATATCTTACAGAATAGTTTCACTGCCCTGAAATCATCTGTGCTCCTCCTATTTGTCTGTCCTTCCTGCTAACCCTTCACAGCCATGAACGTTCTTACTGCATGCATTGTTTTCCCTTTACAGAATGTGACATGGTTGGAATCAAACAGTATGTACCCTTTTCAGAGGGGCAAATTTCACTTAGTGATATGCATCCAAGGTTCTTCAGTGTCTGTCCATGGCTTGATAGTTCAGTTCAATTGATTTTTAGCGTACTTGTTGGATATCAATCATGTGAGAGTTTACCTGTTAGGAACCTCAAGAAACATTCAGCTGACAACTTTATTTTCCTCAAAAATAATGTAAAGTTCAATGTGACCTTAAGGTTATTTCATACATTTGGGAGATTTGGCATATTCTATAAACTCAGAAGGCCCATATAGGCTCTTATAGAGTGCCCTATAAGTCACCACAGAATCTTTCCGTAAAGAATGAGTAGTGGTTGACAGGAAATACATAGATGATATTGTTGGATGTAAATGTAAATAAACTGGTATAAAGACAAATTAGAGGCAGTAAAGTGACAAATCCAGAGTAGATTAAATGCACAGAGATGCATACCATGTCCTTCTGTAACCCAACTGGAGATTAGCCCACAAACTTGCCACCGGAATTCCTGGCCACCAAAGCTAAAAGAGAAACATATTAGTTACAAGTCCCACTGGTCCCCATGGAACAAGGGATTTGAGATTATTTTTTCATGTTGGTCTATGATAGACAGAATTTATTAACAATCCATCTTGTTTCAACAAGAATTTCCAGTTCAAGAGTAAATGTCCAGCTGTTGTTTCATGTGATGATTCTCAAATTAGACCTCTGGCTTAATGCCCATGCTCATTTGTACAATAGTAATTCCTGAGAGGCAAAAAATAACTGACTCACTGGCAGGAGCCTTCATTGATTACTTGTGCTGGGCACTAGTGCGACTTAAAATTATCATCCATTTTCATCCTTACTACACCTCTGTGATATAGGCATTATTCTTTCCATTTTGCTGGTAAGGAAATGCGGGTTTACTTTGACTGTAATCTGTACTGCTAGGGAGTAATAAAGGCTTGTGTTTCCACCTAGAATCTGCTGATTCCATTGTCTGTGTTCTTAAACGCTTTGCTCTAAGCACTGTGCTGTTAGGTGTATGAGGACCAGTGGAGTCCAGTAGACTTAATTCAGCGCGTCTCCCATCTCAGTTGATGGGCTGAATGCAGTGTTCAGGTTATGGATGTGTTGGGATAGAGAAATTTTCTAATGTAATCCAGCCACCCTTGAGCTTGCATTACTTCCAAACAGAGGGTTAGCTTTGAAGCCCTAAGTGATTGCCATTTTTGCTTTTCATTTTCACAAACAGATCTTCAAGTTGTTACAAGCCCCATTCACAGACTGCGGTGATGGCCCAATGCTTCGGCTGGAAGAGCTCGGGGACCAGCGGCACGCTCCTTTCAGACACATCTGCCGGCTCTGCTACAGGGTGCTGAGACACTCGCAGCAAGACTACGGGAAGAACCAGGTTTGGATTAAGCATTGGTGGGATGTGGTTGTCAGTTTCCTCCCTGAAGTTTGTGAACTTTCCTCCTGAGTTTTTAGTGTCACATGTCTATTTATAGAATGGATGCAGAATAGTTCAGTGTTGAGCTTGCTCTTGGGAAGGAAACACAAGCCCAGGAAGAATATTATTACCTAATCGTTAAGAAACGTACTGGAGAATTCTCTTCTGCAGACATCTTTCTATGAGATTTCTGGTTTTGGAGTTGGTTTTACATTTATAGAATTTTTTATGACGTATTCCCTTAGGGCTTAGGGGTGAAATGATGCCATGTGTTTATATTAAAGATATAGTGGAGTCTTTTCTTCCTGCACCTTTAAAATTCTCCGTCTCTTTCTAGAAACATGATCTTTATTTTGTTTCTGATTCATGTTTTATGACATTCTAAGTCATTGTCTATAGAGATATCTTATACATAGTTATATTTTACATATTATACATAGTATATGTGTATTTATATACACACACAATGTATAGTCTCCTATGAAATAAATGTCCTAGGAGCTCCAAACAACCTTCAGATTCTAAGAAAACCTGAGAACTATATTGCTACATCATTGGTTCTTAACTGGGGGTAATTTTGTCCCCCAAAGAATATTTGGCAACATCTGGAGACCCTTTTGAGTTTTATAACTTCATGGTGCTGCTGGCATCTGGTGAGGGGAGGCTAGGGATGCTCTCAAACACCCAGCAGTGCCAAGGACATCCCCACACAACCAAGAATTATCCTGCCTAAAATGTCAGTAGTGCTGAGGTTTAGAAAATTTGTGCCACATGGAGTACCGTAGGCATGCAAAATGATGCTTATCATAACCTTGACTCTTACCACTTTATGTGAACTATCCCTGCCTTTTGGGGCAAAAGGCTTTTGTTTTTAAGGTTTTGACTGCCACTATACTGGACTTTTAGAGTTTTTTCTTTGTAATTAAAGGTTTTTGTCATGTCATCATAAAGATAGTGTTGATCTTGAATAGTGCTTTTTTTGAAGTGTATCAAGCTGTGATTGCTTTAAATCCACCTTCAGTGCGTTGATACTGTAATCCAATAGCCAGAGAGATTTTATTCTGTTCCTCTCTCCCATCTTCAGATGAGGATACATCTGGGTCTGTGGGGTGTGTCAAGACACTTTGCTTGTACATGAGGAAACAAACTAGTTACTCTTGGAATTGCTGGATTAGACATCTTTGCTTAGTTGTTTTCGGATCCTTTACCAGTTGGCAGATGATAAGTTCCTACACAATGCCTCCTTATAGAATACAGGCTGAAAACCATGGCCTGTTTTCATTATGTTAATCCTAAATAGTTAACCGGGATTTAGGAATTAATGGGAAAAAAATTAAAGCAAGTTTCAAGGGCCACTTGAATTTTGAGCAAGCAGTCTATCTTGGCCAGGGAAGCATCTTTGAACAGAAACAAACAGGTATTTGTAAGAGATTTCCTTGAGTTCACAAATATTTCTATGGAATGTGATAGCTGATCCCAAAAGAGAGAAACCAGAGATGTATTCATGAGTTCCATGCATATGATGGATTTTCTTAGGTATTTATTCCTGACCTTCTTATGCTACTCATTGACTTTAAAAAAGTATTTTTACCACAAATAAAGGAAATGAAACAGGGTAACATTGTTCCAGATCTCCAGGTAGGCTTTATCTGTGTTTATTTAGCAGCACAGATCACTGGGGGCACAGTTAAGTCCTCTTGAATTAGGAATACGTTTAGAGCTGAAAACCAGCTTTGGACCTTTTTGAAAAATAAATCACTAGATTAAAATTTATACTGTGCACTTAATAAAATATCCACGTGTAAATACAGGCTATTTTGCTTAATTACATTTGTGTGGCAGGCTTAGAAAAGTAAAGGATGTGAAGGAGTTTGCAGCTGTTGCCCTAGGATAGAAAGTTGTAGGAAGACCCTCCCTTATACTGTAATGTCTCTTAGGGGCAGTAGTTCTCATCAGGAAACATTGCTGCTTTCTTTAGTCTACGCTTAACCATATTG
Task1_train_5879
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?
Pathogenic; not provided
TTATGAGAAATCATAAAGCATGAGTGGTAGCTCATGCCTGTAGTCCCAGCACTTTGGGAAGCCGAGGTGGGAGGATCCCCTTGAGCCCAGGAAATGGAGGTTGCAGTGAGCTGATCGCATCACTGCCCTCCAGCCTGGGTGACAGAGAGAGAGCCTGTCTCAAAAGAGAAAGAAAAAGAGAAATCAATGGGATCATTGAGGGATATTGGTGATTCCCACCTCAAAGGCTTGATGAATTGATTTTTCAATAGACTATTTTCTAGAGCAGTTTTTAGGTTCTCAGCAAGATTGTGCAAAAAGTCCAGAGAGTTCCCATATCTCCTCTTGTCCTCACACACTTGGCCTCCCCCACTACCGACATCCTACATCACAGTGAGACATTTGTGACAATTTGGGGAATCAACATTGATACATCATTATCACCTGAAGTCCATAGTTTACATTAGGGTTCTCTCTTGGCATTTTATTTTCTATGGGTTTTGATAAATGTATGATGCCATTTAGTCACCATTAAAATATCTTACAGAATAGTTTCACTGCCCTGAAATCATCTGTGCTCCTCCTATTTGTCTGTCCTTCCTGCTAACCCTTCACAGCCATGAACGTTCTTACTGCATGCATTGTTTTCCCTTTACAGAATGTGACATGGTTGGAATCAAACAGTATGTACCCTTTTCAGAGGGGCAAATTTCACTTAGTGATATGCATCCAAGGTTCTTCAGTGTCTGTCCATGGCTTGATAGTTCAGTTCAATTGATTTTTAGCGTACTTGTTGGATATCAATCATGTGAGAGTTTACCTGTTAGGAACCTCAAGAAACATTCAGCTGACAACTTTATTTTCCTCAAAAATAATGTAAAGTTCAATGTGACCTTAAGGTTATTTCATACATTTGGGAGATTTGGCATATTCTATAAACTCAGAAGGCCCATATAGGCTCTTATAGAGTGCCCTATAAGTCACCACAGAATCTTTCCGTAAAGAATGAGTAGTGGTTGACAGGAAATACATAGATGATATTGTTGGATGTAAATGTAAATAAACTGGTATAAAGACAAATTAGAGGCAGTAAAGTGACAAATCCAGAGTAGATTAAATGCACAGAGATGCATACCATGTCCTTCTGTAACCCAACTGGAGATTAGCCCACAAACTTGCCACCGGAATTCCTGGCCACCAAAGCTAAAAGAGAAACATATTAGTTACAAGTCCCACTGGTCCCCATGGAACAAGGGATTTGAGATTATTTTTTCATGTTGGTCTATGATAGACAGAATTTATTAACAATCCATCTTGTTTCAACAAGAATTTCCAGTTCAAGAGTAAATGTCCAGCTGTTGTTTCATGTGATGATTCTCAAATTAGACCTCTGGCTTAATGCCCATGCTCATTTGTACAATAGTAATTCCTGAGAGGCAAAAAATAACTGACTCACTGGCAGGAGCCTTCATTGATTACTTGTGCTGGGCACTAGTGCGACTTAAAATTATCATCCATTTTCATCCTTACTACACCTCTGTGATATAGGCATTATTCTTTCCATTTTGCTGGTAAGGAAATGCGGGTTTACTTTGACTGTAATCTGTACTGCTAGGGAGTAATAAAGGCTTGTGTTTCCACCTAGAATCTGCTGATTCCATTGTCTGTGTTCTTAAACGCTTTGCTCTAAGCACTGTGCTGTTAGGTGTATGAGGACCAGTGGAGTCCAGTAGACTTAATTCAGCGCGTCTCCCATCTCAGTTGATGGGCTGAATGCAGTGTTCAGGTTATGGATGTGTTGGGATAGAGAAATTTTCTAATGTAATCCAGCCACCCTTGAGCTTGCATTACTTCCAAACAGAGGGTTAGCTTTGAAGCCCTAAGTGATTGCCATTTTTGCTTTTCATTTTCACAAACAGATCTTCAAGTTGTTACAAGCCCCATTCACAGACTGCGGTGATGGCCCAATGCTTCGGCTGGAAGAGCTCGGGGACCAGCGGCACGCTCCTTTCAGACACATCTGCCGGCTCTGCTACAGGGTGCTGAGACACTCGCAGCAAGACTACAGGAAGAACCAGGTTTGGATTAAGCATTGGTGGGATGTGGTTGTCAGTTTCCTCCCTGAAGTTTGTGAACTTTCCTCCTGAGTTTTTAGTGTCACATGTCTATTTATAGAATGGATGCAGAATAGTTCAGTGTTGAGCTTGCTCTTGGGAAGGAAACACAAGCCCAGGAAGAATATTATTACCTAATCGTTAAGAAACGTACTGGAGAATTCTCTTCTGCAGACATCTTTCTATGAGATTTCTGGTTTTGGAGTTGGTTTTACATTTATAGAATTTTTTATGACGTATTCCCTTAGGGCTTAGGGGTGAAATGATGCCATGTGTTTATATTAAAGATATAGTGGAGTCTTTTCTTCCTGCACCTTTAAAATTCTCCGTCTCTTTCTAGAAACATGATCTTTATTTTGTTTCTGATTCATGTTTTATGACATTCTAAGTCATTGTCTATAGAGATATCTTATACATAGTTATATTTTACATATTATACATAGTATATGTGTATTTATATACACACACAATGTATAGTCTCCTATGAAATAAATGTCCTAGGAGCTCCAAACAACCTTCAGATTCTAAGAAAACCTGAGAACTATATTGCTACATCATTGGTTCTTAACTGGGGGTAATTTTGTCCCCCAAAGAATATTTGGCAACATCTGGAGACCCTTTTGAGTTTTATAACTTCATGGTGCTGCTGGCATCTGGTGAGGGGAGGCTAGGGATGCTCTCAAACACCCAGCAGTGCCAAGGACATCCCCACACAACCAAGAATTATCCTGCCTAAAATGTCAGTAGTGCTGAGGTTTAGAAAATTTGTGCCACATGGAGTACCGTAGGCATGCAAAATGATGCTTATCATAACCTTGACTCTTACCACTTTATGTGAACTATCCCTGCCTTTTGGGGCAAAAGGCTTTTGTTTTTAAGGTTTTGACTGCCACTATACTGGACTTTTAGAGTTTTTTCTTTGTAATTAAAGGTTTTTGTCATGTCATCATAAAGATAGTGTTGATCTTGAATAGTGCTTTTTTTGAAGTGTATCAAGCTGTGATTGCTTTAAATCCACCTTCAGTGCGTTGATACTGTAATCCAATAGCCAGAGAGATTTTATTCTGTTCCTCTCTCCCATCTTCAGATGAGGATACATCTGGGTCTGTGGGGTGTGTCAAGACACTTTGCTTGTACATGAGGAAACAAACTAGTTACTCTTGGAATTGCTGGATTAGACATCTTTGCTTAGTTGTTTTCGGATCCTTTACCAGTTGGCAGATGATAAGTTCCTACACAATGCCTCCTTATAGAATACAGGCTGAAAACCATGGCCTGTTTTCATTATGTTAATCCTAAATAGTTAACCGGGATTTAGGAATTAATGGGAAAAAAATTAAAGCAAGTTTCAAGGGCCACTTGAATTTTGAGCAAGCAGTCTATCTTGGCCAGGGAAGCATCTTTGAACAGAAACAAACAGGTATTTGTAAGAGATTTCCTTGAGTTCACAAATATTTCTATGGAATGTGATAGCTGATCCCAAAAGAGAGAAACCAGAGATGTATTCATGAGTTCCATGCATATGATGGATTTTCTTAGGTATTTATTCCTGACCTTCTTATGCTACTCATTGACTTTAAAAAAGTATTTTTACCACAAATAAAGGAAATGAAACAGGGTAACATTGTTCCAGATCTCCAGGTAGGCTTTATCTGTGTTTATTTAGCAGCACAGATCACTGGGGGCACAGTTAAGTCCTCTTGAATTAGGAATACGTTTAGAGCTGAAAACCAGCTTTGGACCTTTTTGAAAAATAAATCACTAGATTAAAATTTATACTGTGCACTTAATAAAATATCCACGTGTAAATACAGGCTATTTTGCTTAATTACATTTGTGTGGCAGGCTTAGAAAAGTAAAGGATGTGAAGGAGTTTGCAGCTGTTGCCCTAGGATAGAAAGTTGTAGGAAGACCCTCCCTTATACTGTAATGTCTCTTAGGGGCAGTAGTTCTCATCAGGAAACATTGCTGCTTTCTTTAGTCTACGCTTAACCATATTGTCA
TTATGAGAAATCATAAAGCATGAGTGGTAGCTCATGCCTGTAGTCCCAGCACTTTGGGAAGCCGAGGTGGGAGGATCCCCTTGAGCCCAGGAAATGGAGGTTGCAGTGAGCTGATCGCATCACTGCCCTCCAGCCTGGGTGACAGAGAGAGAGCCTGTCTCAAAAGAGAAAGAAAAAGAGAAATCAATGGGATCATTGAGGGATATTGGTGATTCCCACCTCAAAGGCTTGATGAATTGATTTTTCAATAGACTATTTTCTAGAGCAGTTTTTAGGTTCTCAGCAAGATTGTGCAAAAAGTCCAGAGAGTTCCCATATCTCCTCTTGTCCTCACACACTTGGCCTCCCCCACTACCGACATCCTACATCACAGTGAGACATTTGTGACAATTTGGGGAATCAACATTGATACATCATTATCACCTGAAGTCCATAGTTTACATTAGGGTTCTCTCTTGGCATTTTATTTTCTATGGGTTTTGATAAATGTATGATGCCATTTAGTCACCATTAAAATATCTTACAGAATAGTTTCACTGCCCTGAAATCATCTGTGCTCCTCCTATTTGTCTGTCCTTCCTGCTAACCCTTCACAGCCATGAACGTTCTTACTGCATGCATTGTTTTCCCTTTACAGAATGTGACATGGTTGGAATCAAACAGTATGTACCCTTTTCAGAGGGGCAAATTTCACTTAGTGATATGCATCCAAGGTTCTTCAGTGTCTGTCCATGGCTTGATAGTTCAGTTCAATTGATTTTTAGCGTACTTGTTGGATATCAATCATGTGAGAGTTTACCTGTTAGGAACCTCAAGAAACATTCAGCTGACAACTTTATTTTCCTCAAAAATAATGTAAAGTTCAATGTGACCTTAAGGTTATTTCATACATTTGGGAGATTTGGCATATTCTATAAACTCAGAAGGCCCATATAGGCTCTTATAGAGTGCCCTATAAGTCACCACAGAATCTTTCCGTAAAGAATGAGTAGTGGTTGACAGGAAATACATAGATGATATTGTTGGATGTAAATGTAAATAAACTGGTATAAAGACAAATTAGAGGCAGTAAAGTGACAAATCCAGAGTAGATTAAATGCACAGAGATGCATACCATGTCCTTCTGTAACCCAACTGGAGATTAGCCCACAAACTTGCCACCGGAATTCCTGGCCACCAAAGCTAAAAGAGAAACATATTAGTTACAAGTCCCACTGGTCCCCATGGAACAAGGGATTTGAGATTATTTTTTCATGTTGGTCTATGATAGACAGAATTTATTAACAATCCATCTTGTTTCAACAAGAATTTCCAGTTCAAGAGTAAATGTCCAGCTGTTGTTTCATGTGATGATTCTCAAATTAGACCTCTGGCTTAATGCCCATGCTCATTTGTACAATAGTAATTCCTGAGAGGCAAAAAATAACTGACTCACTGGCAGGAGCCTTCATTGATTACTTGTGCTGGGCACTAGTGCGACTTAAAATTATCATCCATTTTCATCCTTACTACACCTCTGTGATATAGGCATTATTCTTTCCATTTTGCTGGTAAGGAAATGCGGGTTTACTTTGACTGTAATCTGTACTGCTAGGGAGTAATAAAGGCTTGTGTTTCCACCTAGAATCTGCTGATTCCATTGTCTGTGTTCTTAAACGCTTTGCTCTAAGCACTGTGCTGTTAGGTGTATGAGGACCAGTGGAGTCCAGTAGACTTAATTCAGCGCGTCTCCCATCTCAGTTGATGGGCTGAATGCAGTGTTCAGGTTATGGATGTGTTGGGATAGAGAAATTTTCTAATGTAATCCAGCCACCCTTGAGCTTGCATTACTTCCAAACAGAGGGTTAGCTTTGAAGCCCTAAGTGATTGCCATTTTTGCTTTTCATTTTCACAAACAGATCTTCAAGTTGTTACAAGCCCCATTCACAGACTGCGGTGATGGCCCAATGCTTCGGCTGGAAGAGCTCGGGGACCAGCGGCACGCTCCTTTCAGACACATCTGCCGGCTCTGCTACAGGGTGCTGAGACACTCGCAGCAAGACTACAGGGAGAACCAGGTTTGGATTAAGCATTGGTGGGATGTGGTTGTCAGTTTCCTCCCTGAAGTTTGTGAACTTTCCTCCTGAGTTTTTAGTGTCACATGTCTATTTATAGAATGGATGCAGAATAGTTCAGTGTTGAGCTTGCTCTTGGGAAGGAAACACAAGCCCAGGAAGAATATTATTACCTAATCGTTAAGAAACGTACTGGAGAATTCTCTTCTGCAGACATCTTTCTATGAGATTTCTGGTTTTGGAGTTGGTTTTACATTTATAGAATTTTTTATGACGTATTCCCTTAGGGCTTAGGGGTGAAATGATGCCATGTGTTTATATTAAAGATATAGTGGAGTCTTTTCTTCCTGCACCTTTAAAATTCTCCGTCTCTTTCTAGAAACATGATCTTTATTTTGTTTCTGATTCATGTTTTATGACATTCTAAGTCATTGTCTATAGAGATATCTTATACATAGTTATATTTTACATATTATACATAGTATATGTGTATTTATATACACACACAATGTATAGTCTCCTATGAAATAAATGTCCTAGGAGCTCCAAACAACCTTCAGATTCTAAGAAAACCTGAGAACTATATTGCTACATCATTGGTTCTTAACTGGGGGTAATTTTGTCCCCCAAAGAATATTTGGCAACATCTGGAGACCCTTTTGAGTTTTATAACTTCATGGTGCTGCTGGCATCTGGTGAGGGGAGGCTAGGGATGCTCTCAAACACCCAGCAGTGCCAAGGACATCCCCACACAACCAAGAATTATCCTGCCTAAAATGTCAGTAGTGCTGAGGTTTAGAAAATTTGTGCCACATGGAGTACCGTAGGCATGCAAAATGATGCTTATCATAACCTTGACTCTTACCACTTTATGTGAACTATCCCTGCCTTTTGGGGCAAAAGGCTTTTGTTTTTAAGGTTTTGACTGCCACTATACTGGACTTTTAGAGTTTTTTCTTTGTAATTAAAGGTTTTTGTCATGTCATCATAAAGATAGTGTTGATCTTGAATAGTGCTTTTTTTGAAGTGTATCAAGCTGTGATTGCTTTAAATCCACCTTCAGTGCGTTGATACTGTAATCCAATAGCCAGAGAGATTTTATTCTGTTCCTCTCTCCCATCTTCAGATGAGGATACATCTGGGTCTGTGGGGTGTGTCAAGACACTTTGCTTGTACATGAGGAAACAAACTAGTTACTCTTGGAATTGCTGGATTAGACATCTTTGCTTAGTTGTTTTCGGATCCTTTACCAGTTGGCAGATGATAAGTTCCTACACAATGCCTCCTTATAGAATACAGGCTGAAAACCATGGCCTGTTTTCATTATGTTAATCCTAAATAGTTAACCGGGATTTAGGAATTAATGGGAAAAAAATTAAAGCAAGTTTCAAGGGCCACTTGAATTTTGAGCAAGCAGTCTATCTTGGCCAGGGAAGCATCTTTGAACAGAAACAAACAGGTATTTGTAAGAGATTTCCTTGAGTTCACAAATATTTCTATGGAATGTGATAGCTGATCCCAAAAGAGAGAAACCAGAGATGTATTCATGAGTTCCATGCATATGATGGATTTTCTTAGGTATTTATTCCTGACCTTCTTATGCTACTCATTGACTTTAAAAAAGTATTTTTACCACAAATAAAGGAAATGAAACAGGGTAACATTGTTCCAGATCTCCAGGTAGGCTTTATCTGTGTTTATTTAGCAGCACAGATCACTGGGGGCACAGTTAAGTCCTCTTGAATTAGGAATACGTTTAGAGCTGAAAACCAGCTTTGGACCTTTTTGAAAAATAAATCACTAGATTAAAATTTATACTGTGCACTTAATAAAATATCCACGTGTAAATACAGGCTATTTTGCTTAATTACATTTGTGTGGCAGGCTTAGAAAAGTAAAGGATGTGAAGGAGTTTGCAGCTGTTGCCCTAGGATAGAAAGTTGTAGGAAGACCCTCCCTTATACTGTAATGTCTCTTAGGGGCAGTAGTTCTCATCAGGAAACATTGCTGCTTTCTTTAGTCTACGCTTAACCATATTGTCA
Task1_train_5880
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?
Pathogenic; not provided
TGGATGCAGAATAGTTCAGTGTTGAGCTTGCTCTTGGGAAGGAAACACAAGCCCAGGAAGAATATTATTACCTAATCGTTAAGAAACGTACTGGAGAATTCTCTTCTGCAGACATCTTTCTATGAGATTTCTGGTTTTGGAGTTGGTTTTACATTTATAGAATTTTTTATGACGTATTCCCTTAGGGCTTAGGGGTGAAATGATGCCATGTGTTTATATTAAAGATATAGTGGAGTCTTTTCTTCCTGCACCTTTAAAATTCTCCGTCTCTTTCTAGAAACATGATCTTTATTTTGTTTCTGATTCATGTTTTATGACATTCTAAGTCATTGTCTATAGAGATATCTTATACATAGTTATATTTTACATATTATACATAGTATATGTGTATTTATATACACACACAATGTATAGTCTCCTATGAAATAAATGTCCTAGGAGCTCCAAACAACCTTCAGATTCTAAGAAAACCTGAGAACTATATTGCTACATCATTGGTTCTTAACTGGGGGTAATTTTGTCCCCCAAAGAATATTTGGCAACATCTGGAGACCCTTTTGAGTTTTATAACTTCATGGTGCTGCTGGCATCTGGTGAGGGGAGGCTAGGGATGCTCTCAAACACCCAGCAGTGCCAAGGACATCCCCACACAACCAAGAATTATCCTGCCTAAAATGTCAGTAGTGCTGAGGTTTAGAAAATTTGTGCCACATGGAGTACCGTAGGCATGCAAAATGATGCTTATCATAACCTTGACTCTTACCACTTTATGTGAACTATCCCTGCCTTTTGGGGCAAAAGGCTTTTGTTTTTAAGGTTTTGACTGCCACTATACTGGACTTTTAGAGTTTTTTCTTTGTAATTAAAGGTTTTTGTCATGTCATCATAAAGATAGTGTTGATCTTGAATAGTGCTTTTTTTGAAGTGTATCAAGCTGTGATTGCTTTAAATCCACCTTCAGTGCGTTGATACTGTAATCCAATAGCCAGAGAGATTTTATTCTGTTCCTCTCTCCCATCTTCAGATGAGGATACATCTGGGTCTGTGGGGTGTGTCAAGACACTTTGCTTGTACATGAGGAAACAAACTAGTTACTCTTGGAATTGCTGGATTAGACATCTTTGCTTAGTTGTTTTCGGATCCTTTACCAGTTGGCAGATGATAAGTTCCTACACAATGCCTCCTTATAGAATACAGGCTGAAAACCATGGCCTGTTTTCATTATGTTAATCCTAAATAGTTAACCGGGATTTAGGAATTAATGGGAAAAAAATTAAAGCAAGTTTCAAGGGCCACTTGAATTTTGAGCAAGCAGTCTATCTTGGCCAGGGAAGCATCTTTGAACAGAAACAAACAGGTATTTGTAAGAGATTTCCTTGAGTTCACAAATATTTCTATGGAATGTGATAGCTGATCCCAAAAGAGAGAAACCAGAGATGTATTCATGAGTTCCATGCATATGATGGATTTTCTTAGGTATTTATTCCTGACCTTCTTATGCTACTCATTGACTTTAAAAAAGTATTTTTACCACAAATAAAGGAAATGAAACAGGGTAACATTGTTCCAGATCTCCAGGTAGGCTTTATCTGTGTTTATTTAGCAGCACAGATCACTGGGGGCACAGTTAAGTCCTCTTGAATTAGGAATACGTTTAGAGCTGAAAACCAGCTTTGGACCTTTTTGAAAAATAAATCACTAGATTAAAATTTATACTGTGCACTTAATAAAATATCCACGTGTAAATACAGGCTATTTTGCTTAATTACATTTGTGTGGCAGGCTTAGAAAAGTAAAGGATGTGAAGGAGTTTGCAGCTGTTGCCCTAGGATAGAAAGTTGTAGGAAGACCCTCCCTTATACTGTAATGTCTCTTAGGGGCAGTAGTTCTCATCAGGAAACATTGCTGCTTTCTTTAGTCTACGCTTAACCATATTGTCATTTATCCTTCCTACTGACGTCTCTTTTCTCTCCTTATAAAGGAGTATATAGCCAAGCAGTTTGGCTTCATGCAGAAGCAGATTGGCTATGATGTGTTGGCTGAAGACACTATCACTGCCCTGCTCCACAATAATCGGAAACTCCTGGAAAAACACATTACCGCGGCAGAGATTGACACATTTGTCAGCCTGGTGCGAAAGAACAGGGAGCCCAGGTGAGGCGGGAGTGGGGTCCATGCAGGATGGTGTCTCTGCCTGTAAGATGCAGGGACTTAGCTGGTGCTTTTTACTACGTTTCCTTGTGCTGCTAGTGACAAGTTTTGATTAGTTAGGTCTGGAGAGGCTTTTTGATGAGTAGTGGCAAGAACTTGGTGTTAAAATGAGACCTGGGGGTGCATTCCTAGCTCCAGTGTGTCCCACCTGGATGAGCTTGGGTTTTTTCCTGAACTTTAATTTCCTTATCTGCTAAATGGGTAGTTATGAAAATTAAATGAGAATAAACGCAGGTGACGTGCAGGCACTTAGTGGATGCAGAGGAAATGACAAATTGTTGGCCACTCATTCACTTTTTAAAAAATGTTCTTAATTTTAATTTTTAATTTTTGTGGGTACGTAGTAGGTGTATATATTTATGGGGTACATGAGATGTTTTGATGTAGGCATGCAATGTGTAATAATCACATTGTAGAGAATGGGGTATCCATCCCCTCAAACATTTATTTTTTGTTACAAAGAATTCAGTTCTATTCTTTTAGTTATTTTAAAATGTACAATTAAATTATTGACTGTAATTACCCCATTTACCTACAAACAGTAGGTCTTATTCATTCTGTAATTACCCAATTTACCTACAAACAGTAGGTCTTATTCGTTCTTTCTATTTTTTTTTTTTTTTTTTTTACCTGTTAACATCCCCACCTCCCCCCTGCCCTCCCACTATCTTTCCCAGCCTCTGGTAACCATCCTTCTACTCTGTGTCCATGAGTTCAATTGTTTTGATTTTTAGATCCTACAAATAAGTGAGAAGATGCGATGTTTGTCTTTCTGTGCTTGGCTTATTTCACTTAGCATTATGACCTCCTCCAGTTCCATCCATGTTGTTGCAAATGACTGGATCTCACTCTTTTCATTCCCTTTTTCTTTTTTTTTTTAAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGGGCAGTGGCGAGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTGTTCTGCCTCAGGCTCCCCAGTAGCTGCGACTACAGGCACGTGCCACCACACCCAGCTAATTTTTGTGTTTTTAATAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGTCCGCCTTTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCTCGGCCTCATTCACTTTTTAGCACCTCTTGCTTATCAGTTAAACACTCCCCTCCCTCAGTATAATCAGTAAGAGTCTTGCAAGTTCAGTTGTTGGTTGAGCGTTTTTATTATAGATTAGTGAATTCTATTGATTGTATCTCATTCACACAGATCTGCTCCTCTTTCGTACACCCTCTCCCCATTTCTTTCCCCTTCTCTTGTCCTTCTAATTAAGACCCATATTTTCAGTTGAAGCGGGAAGCAATTTACAATGTGGGTGTCACAAATGATTACAATGGAGCACGGACACAGTTGCTGTAAAAACACCTACTACCACCCTTGAAAATAACCCGCATTTTCTGGAGCCTGCTCAAGGGCTCAGGTAGTGAGCAATGGAAGCACTTCCGTTAATTATCTCATTTAATCCGCAGGACAGCCCTCAGAAGTGACACATTATCCTTTTCTGTAGACGAGCATCAATTAAAGCACAGTGAAATTAGTAATTTCCCCAAATGAACGCTCCATAGCAGAACTCCGCTAATAAGATCCTAACTGGGCTTCCAACACACGTAGCCAAACATCAGGGCGTTGCCTCTCACCACTGTGGTTCCCCTGTGTCTCCACCACACCTTCCTTATGTGAGCTGCTTTCTTGTCTTGTTCCTTCTTCTCATCTTTGCCTCATCACCTCTTCCTTGACCACAGCCACTCCTGTCTTTCCTTCTTGTTTCCTCTTCCTTCTTTCTGGCATGT
TGGATGCAGAATAGTTCAGTGTTGAGCTTGCTCTTGGGAAGGAAACACAAGCCCAGGAAGAATATTATTACCTAATCGTTAAGAAACGTACTGGAGAATTCTCTTCTGCAGACATCTTTCTATGAGATTTCTGGTTTTGGAGTTGGTTTTACATTTATAGAATTTTTTATGACGTATTCCCTTAGGGCTTAGGGGTGAAATGATGCCATGTGTTTATATTAAAGATATAGTGGAGTCTTTTCTTCCTGCACCTTTAAAATTCTCCGTCTCTTTCTAGAAACATGATCTTTATTTTGTTTCTGATTCATGTTTTATGACATTCTAAGTCATTGTCTATAGAGATATCTTATACATAGTTATATTTTACATATTATACATAGTATATGTGTATTTATATACACACACAATGTATAGTCTCCTATGAAATAAATGTCCTAGGAGCTCCAAACAACCTTCAGATTCTAAGAAAACCTGAGAACTATATTGCTACATCATTGGTTCTTAACTGGGGGTAATTTTGTCCCCCAAAGAATATTTGGCAACATCTGGAGACCCTTTTGAGTTTTATAACTTCATGGTGCTGCTGGCATCTGGTGAGGGGAGGCTAGGGATGCTCTCAAACACCCAGCAGTGCCAAGGACATCCCCACACAACCAAGAATTATCCTGCCTAAAATGTCAGTAGTGCTGAGGTTTAGAAAATTTGTGCCACATGGAGTACCGTAGGCATGCAAAATGATGCTTATCATAACCTTGACTCTTACCACTTTATGTGAACTATCCCTGCCTTTTGGGGCAAAAGGCTTTTGTTTTTAAGGTTTTGACTGCCACTATACTGGACTTTTAGAGTTTTTTCTTTGTAATTAAAGGTTTTTGTCATGTCATCATAAAGATAGTGTTGATCTTGAATAGTGCTTTTTTTGAAGTGTATCAAGCTGTGATTGCTTTAAATCCACCTTCAGTGCGTTGATACTGTAATCCAATAGCCAGAGAGATTTTATTCTGTTCCTCTCTCCCATCTTCAGATGAGGATACATCTGGGTCTGTGGGGTGTGTCAAGACACTTTGCTTGTACATGAGGAAACAAACTAGTTACTCTTGGAATTGCTGGATTAGACATCTTTGCTTAGTTGTTTTCGGATCCTTTACCAGTTGGCAGATGATAAGTTCCTACACAATGCCTCCTTATAGAATACAGGCTGAAAACCATGGCCTGTTTTCATTATGTTAATCCTAAATAGTTAACCGGGATTTAGGAATTAATGGGAAAAAAATTAAAGCAAGTTTCAAGGGCCACTTGAATTTTGAGCAAGCAGTCTATCTTGGCCAGGGAAGCATCTTTGAACAGAAACAAACAGGTATTTGTAAGAGATTTCCTTGAGTTCACAAATATTTCTATGGAATGTGATAGCTGATCCCAAAAGAGAGAAACCAGAGATGTATTCATGAGTTCCATGCATATGATGGATTTTCTTAGGTATTTATTCCTGACCTTCTTATGCTACTCATTGACTTTAAAAAAGTATTTTTACCACAAATAAAGGAAATGAAACAGGGTAACATTGTTCCAGATCTCCAGGTAGGCTTTATCTGTGTTTATTTAGCAGCACAGATCACTGGGGGCACAGTTAAGTCCTCTTGAATTAGGAATACGTTTAGAGCTGAAAACCAGCTTTGGACCTTTTTGAAAAATAAATCACTAGATTAAAATTTATACTGTGCACTTAATAAAATATCCACGTGTAAATACAGGCTATTTTGCTTAATTACATTTGTGTGGCAGGCTTAGAAAAGTAAAGGATGTGAAGGAGTTTGCAGCTGTTGCCCTAGGATAGAAAGTTGTAGGAAGACCCTCCCTTATACTGTAATGTCTCTTAGGGGCAGTAGTTCTCATCAGGAAACATTGCTGCTTTCTTTAGTCTACGCTTAACCATATTGTCATTTATCCTTCCTACTGACGTCTCTTTTCTCTCCTTATAAAGGAGTATATAGCCAAGCAGTTTGGCTTCATGCAGAAGCAGATTGGCTATGATGTGTTGGCTGAAGACATTATCACTGCCCTGCTCCACAATAATCGGAAACTCCTGGAAAAACACATTACCGCGGCAGAGATTGACACATTTGTCAGCCTGGTGCGAAAGAACAGGGAGCCCAGGTGAGGCGGGAGTGGGGTCCATGCAGGATGGTGTCTCTGCCTGTAAGATGCAGGGACTTAGCTGGTGCTTTTTACTACGTTTCCTTGTGCTGCTAGTGACAAGTTTTGATTAGTTAGGTCTGGAGAGGCTTTTTGATGAGTAGTGGCAAGAACTTGGTGTTAAAATGAGACCTGGGGGTGCATTCCTAGCTCCAGTGTGTCCCACCTGGATGAGCTTGGGTTTTTTCCTGAACTTTAATTTCCTTATCTGCTAAATGGGTAGTTATGAAAATTAAATGAGAATAAACGCAGGTGACGTGCAGGCACTTAGTGGATGCAGAGGAAATGACAAATTGTTGGCCACTCATTCACTTTTTAAAAAATGTTCTTAATTTTAATTTTTAATTTTTGTGGGTACGTAGTAGGTGTATATATTTATGGGGTACATGAGATGTTTTGATGTAGGCATGCAATGTGTAATAATCACATTGTAGAGAATGGGGTATCCATCCCCTCAAACATTTATTTTTTGTTACAAAGAATTCAGTTCTATTCTTTTAGTTATTTTAAAATGTACAATTAAATTATTGACTGTAATTACCCCATTTACCTACAAACAGTAGGTCTTATTCATTCTGTAATTACCCAATTTACCTACAAACAGTAGGTCTTATTCGTTCTTTCTATTTTTTTTTTTTTTTTTTTTACCTGTTAACATCCCCACCTCCCCCCTGCCCTCCCACTATCTTTCCCAGCCTCTGGTAACCATCCTTCTACTCTGTGTCCATGAGTTCAATTGTTTTGATTTTTAGATCCTACAAATAAGTGAGAAGATGCGATGTTTGTCTTTCTGTGCTTGGCTTATTTCACTTAGCATTATGACCTCCTCCAGTTCCATCCATGTTGTTGCAAATGACTGGATCTCACTCTTTTCATTCCCTTTTTCTTTTTTTTTTTAAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGGGCAGTGGCGAGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTGTTCTGCCTCAGGCTCCCCAGTAGCTGCGACTACAGGCACGTGCCACCACACCCAGCTAATTTTTGTGTTTTTAATAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGTCCGCCTTTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCTCGGCCTCATTCACTTTTTAGCACCTCTTGCTTATCAGTTAAACACTCCCCTCCCTCAGTATAATCAGTAAGAGTCTTGCAAGTTCAGTTGTTGGTTGAGCGTTTTTATTATAGATTAGTGAATTCTATTGATTGTATCTCATTCACACAGATCTGCTCCTCTTTCGTACACCCTCTCCCCATTTCTTTCCCCTTCTCTTGTCCTTCTAATTAAGACCCATATTTTCAGTTGAAGCGGGAAGCAATTTACAATGTGGGTGTCACAAATGATTACAATGGAGCACGGACACAGTTGCTGTAAAAACACCTACTACCACCCTTGAAAATAACCCGCATTTTCTGGAGCCTGCTCAAGGGCTCAGGTAGTGAGCAATGGAAGCACTTCCGTTAATTATCTCATTTAATCCGCAGGACAGCCCTCAGAAGTGACACATTATCCTTTTCTGTAGACGAGCATCAATTAAAGCACAGTGAAATTAGTAATTTCCCCAAATGAACGCTCCATAGCAGAACTCCGCTAATAAGATCCTAACTGGGCTTCCAACACACGTAGCCAAACATCAGGGCGTTGCCTCTCACCACTGTGGTTCCCCTGTGTCTCCACCACACCTTCCTTATGTGAGCTGCTTTCTTGTCTTGTTCCTTCTTCTCATCTTTGCCTCATCACCTCTTCCTTGACCACAGCCACTCCTGTCTTTCCTTCTTGTTTCCTCTTCCTTCTTTCTGGCATGT
Task1_train_5881
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.
Pathogenic; Spinocerebellar ataxia type 29
GAGCTTGCTCTTGGGAAGGAAACACAAGCCCAGGAAGAATATTATTACCTAATCGTTAAGAAACGTACTGGAGAATTCTCTTCTGCAGACATCTTTCTATGAGATTTCTGGTTTTGGAGTTGGTTTTACATTTATAGAATTTTTTATGACGTATTCCCTTAGGGCTTAGGGGTGAAATGATGCCATGTGTTTATATTAAAGATATAGTGGAGTCTTTTCTTCCTGCACCTTTAAAATTCTCCGTCTCTTTCTAGAAACATGATCTTTATTTTGTTTCTGATTCATGTTTTATGACATTCTAAGTCATTGTCTATAGAGATATCTTATACATAGTTATATTTTACATATTATACATAGTATATGTGTATTTATATACACACACAATGTATAGTCTCCTATGAAATAAATGTCCTAGGAGCTCCAAACAACCTTCAGATTCTAAGAAAACCTGAGAACTATATTGCTACATCATTGGTTCTTAACTGGGGGTAATTTTGTCCCCCAAAGAATATTTGGCAACATCTGGAGACCCTTTTGAGTTTTATAACTTCATGGTGCTGCTGGCATCTGGTGAGGGGAGGCTAGGGATGCTCTCAAACACCCAGCAGTGCCAAGGACATCCCCACACAACCAAGAATTATCCTGCCTAAAATGTCAGTAGTGCTGAGGTTTAGAAAATTTGTGCCACATGGAGTACCGTAGGCATGCAAAATGATGCTTATCATAACCTTGACTCTTACCACTTTATGTGAACTATCCCTGCCTTTTGGGGCAAAAGGCTTTTGTTTTTAAGGTTTTGACTGCCACTATACTGGACTTTTAGAGTTTTTTCTTTGTAATTAAAGGTTTTTGTCATGTCATCATAAAGATAGTGTTGATCTTGAATAGTGCTTTTTTTGAAGTGTATCAAGCTGTGATTGCTTTAAATCCACCTTCAGTGCGTTGATACTGTAATCCAATAGCCAGAGAGATTTTATTCTGTTCCTCTCTCCCATCTTCAGATGAGGATACATCTGGGTCTGTGGGGTGTGTCAAGACACTTTGCTTGTACATGAGGAAACAAACTAGTTACTCTTGGAATTGCTGGATTAGACATCTTTGCTTAGTTGTTTTCGGATCCTTTACCAGTTGGCAGATGATAAGTTCCTACACAATGCCTCCTTATAGAATACAGGCTGAAAACCATGGCCTGTTTTCATTATGTTAATCCTAAATAGTTAACCGGGATTTAGGAATTAATGGGAAAAAAATTAAAGCAAGTTTCAAGGGCCACTTGAATTTTGAGCAAGCAGTCTATCTTGGCCAGGGAAGCATCTTTGAACAGAAACAAACAGGTATTTGTAAGAGATTTCCTTGAGTTCACAAATATTTCTATGGAATGTGATAGCTGATCCCAAAAGAGAGAAACCAGAGATGTATTCATGAGTTCCATGCATATGATGGATTTTCTTAGGTATTTATTCCTGACCTTCTTATGCTACTCATTGACTTTAAAAAAGTATTTTTACCACAAATAAAGGAAATGAAACAGGGTAACATTGTTCCAGATCTCCAGGTAGGCTTTATCTGTGTTTATTTAGCAGCACAGATCACTGGGGGCACAGTTAAGTCCTCTTGAATTAGGAATACGTTTAGAGCTGAAAACCAGCTTTGGACCTTTTTGAAAAATAAATCACTAGATTAAAATTTATACTGTGCACTTAATAAAATATCCACGTGTAAATACAGGCTATTTTGCTTAATTACATTTGTGTGGCAGGCTTAGAAAAGTAAAGGATGTGAAGGAGTTTGCAGCTGTTGCCCTAGGATAGAAAGTTGTAGGAAGACCCTCCCTTATACTGTAATGTCTCTTAGGGGCAGTAGTTCTCATCAGGAAACATTGCTGCTTTCTTTAGTCTACGCTTAACCATATTGTCATTTATCCTTCCTACTGACGTCTCTTTTCTCTCCTTATAAAGGAGTATATAGCCAAGCAGTTTGGCTTCATGCAGAAGCAGATTGGCTATGATGTGTTGGCTGAAGACACTATCACTGCCCTGCTCCACAATAATCGGAAACTCCTGGAAAAACACATTACCGCGGCAGAGATTGACACATTTGTCAGCCTGGTGCGAAAGAACAGGGAGCCCAGGTGAGGCGGGAGTGGGGTCCATGCAGGATGGTGTCTCTGCCTGTAAGATGCAGGGACTTAGCTGGTGCTTTTTACTACGTTTCCTTGTGCTGCTAGTGACAAGTTTTGATTAGTTAGGTCTGGAGAGGCTTTTTGATGAGTAGTGGCAAGAACTTGGTGTTAAAATGAGACCTGGGGGTGCATTCCTAGCTCCAGTGTGTCCCACCTGGATGAGCTTGGGTTTTTTCCTGAACTTTAATTTCCTTATCTGCTAAATGGGTAGTTATGAAAATTAAATGAGAATAAACGCAGGTGACGTGCAGGCACTTAGTGGATGCAGAGGAAATGACAAATTGTTGGCCACTCATTCACTTTTTAAAAAATGTTCTTAATTTTAATTTTTAATTTTTGTGGGTACGTAGTAGGTGTATATATTTATGGGGTACATGAGATGTTTTGATGTAGGCATGCAATGTGTAATAATCACATTGTAGAGAATGGGGTATCCATCCCCTCAAACATTTATTTTTTGTTACAAAGAATTCAGTTCTATTCTTTTAGTTATTTTAAAATGTACAATTAAATTATTGACTGTAATTACCCCATTTACCTACAAACAGTAGGTCTTATTCATTCTGTAATTACCCAATTTACCTACAAACAGTAGGTCTTATTCGTTCTTTCTATTTTTTTTTTTTTTTTTTTTACCTGTTAACATCCCCACCTCCCCCCTGCCCTCCCACTATCTTTCCCAGCCTCTGGTAACCATCCTTCTACTCTGTGTCCATGAGTTCAATTGTTTTGATTTTTAGATCCTACAAATAAGTGAGAAGATGCGATGTTTGTCTTTCTGTGCTTGGCTTATTTCACTTAGCATTATGACCTCCTCCAGTTCCATCCATGTTGTTGCAAATGACTGGATCTCACTCTTTTCATTCCCTTTTTCTTTTTTTTTTTAAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGGGCAGTGGCGAGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTGTTCTGCCTCAGGCTCCCCAGTAGCTGCGACTACAGGCACGTGCCACCACACCCAGCTAATTTTTGTGTTTTTAATAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGTCCGCCTTTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCTCGGCCTCATTCACTTTTTAGCACCTCTTGCTTATCAGTTAAACACTCCCCTCCCTCAGTATAATCAGTAAGAGTCTTGCAAGTTCAGTTGTTGGTTGAGCGTTTTTATTATAGATTAGTGAATTCTATTGATTGTATCTCATTCACACAGATCTGCTCCTCTTTCGTACACCCTCTCCCCATTTCTTTCCCCTTCTCTTGTCCTTCTAATTAAGACCCATATTTTCAGTTGAAGCGGGAAGCAATTTACAATGTGGGTGTCACAAATGATTACAATGGAGCACGGACACAGTTGCTGTAAAAACACCTACTACCACCCTTGAAAATAACCCGCATTTTCTGGAGCCTGCTCAAGGGCTCAGGTAGTGAGCAATGGAAGCACTTCCGTTAATTATCTCATTTAATCCGCAGGACAGCCCTCAGAAGTGACACATTATCCTTTTCTGTAGACGAGCATCAATTAAAGCACAGTGAAATTAGTAATTTCCCCAAATGAACGCTCCATAGCAGAACTCCGCTAATAAGATCCTAACTGGGCTTCCAACACACGTAGCCAAACATCAGGGCGTTGCCTCTCACCACTGTGGTTCCCCTGTGTCTCCACCACACCTTCCTTATGTGAGCTGCTTTCTTGTCTTGTTCCTTCTTCTCATCTTTGCCTCATCACCTCTTCCTTGACCACAGCCACTCCTGTCTTTCCTTCTTGTTTCCTCTTCCTTCTTTCTGGCATGTGGCTTTCTGGTGATGCCATAAAC
GAGCTTGCTCTTGGGAAGGAAACACAAGCCCAGGAAGAATATTATTACCTAATCGTTAAGAAACGTACTGGAGAATTCTCTTCTGCAGACATCTTTCTATGAGATTTCTGGTTTTGGAGTTGGTTTTACATTTATAGAATTTTTTATGACGTATTCCCTTAGGGCTTAGGGGTGAAATGATGCCATGTGTTTATATTAAAGATATAGTGGAGTCTTTTCTTCCTGCACCTTTAAAATTCTCCGTCTCTTTCTAGAAACATGATCTTTATTTTGTTTCTGATTCATGTTTTATGACATTCTAAGTCATTGTCTATAGAGATATCTTATACATAGTTATATTTTACATATTATACATAGTATATGTGTATTTATATACACACACAATGTATAGTCTCCTATGAAATAAATGTCCTAGGAGCTCCAAACAACCTTCAGATTCTAAGAAAACCTGAGAACTATATTGCTACATCATTGGTTCTTAACTGGGGGTAATTTTGTCCCCCAAAGAATATTTGGCAACATCTGGAGACCCTTTTGAGTTTTATAACTTCATGGTGCTGCTGGCATCTGGTGAGGGGAGGCTAGGGATGCTCTCAAACACCCAGCAGTGCCAAGGACATCCCCACACAACCAAGAATTATCCTGCCTAAAATGTCAGTAGTGCTGAGGTTTAGAAAATTTGTGCCACATGGAGTACCGTAGGCATGCAAAATGATGCTTATCATAACCTTGACTCTTACCACTTTATGTGAACTATCCCTGCCTTTTGGGGCAAAAGGCTTTTGTTTTTAAGGTTTTGACTGCCACTATACTGGACTTTTAGAGTTTTTTCTTTGTAATTAAAGGTTTTTGTCATGTCATCATAAAGATAGTGTTGATCTTGAATAGTGCTTTTTTTGAAGTGTATCAAGCTGTGATTGCTTTAAATCCACCTTCAGTGCGTTGATACTGTAATCCAATAGCCAGAGAGATTTTATTCTGTTCCTCTCTCCCATCTTCAGATGAGGATACATCTGGGTCTGTGGGGTGTGTCAAGACACTTTGCTTGTACATGAGGAAACAAACTAGTTACTCTTGGAATTGCTGGATTAGACATCTTTGCTTAGTTGTTTTCGGATCCTTTACCAGTTGGCAGATGATAAGTTCCTACACAATGCCTCCTTATAGAATACAGGCTGAAAACCATGGCCTGTTTTCATTATGTTAATCCTAAATAGTTAACCGGGATTTAGGAATTAATGGGAAAAAAATTAAAGCAAGTTTCAAGGGCCACTTGAATTTTGAGCAAGCAGTCTATCTTGGCCAGGGAAGCATCTTTGAACAGAAACAAACAGGTATTTGTAAGAGATTTCCTTGAGTTCACAAATATTTCTATGGAATGTGATAGCTGATCCCAAAAGAGAGAAACCAGAGATGTATTCATGAGTTCCATGCATATGATGGATTTTCTTAGGTATTTATTCCTGACCTTCTTATGCTACTCATTGACTTTAAAAAAGTATTTTTACCACAAATAAAGGAAATGAAACAGGGTAACATTGTTCCAGATCTCCAGGTAGGCTTTATCTGTGTTTATTTAGCAGCACAGATCACTGGGGGCACAGTTAAGTCCTCTTGAATTAGGAATACGTTTAGAGCTGAAAACCAGCTTTGGACCTTTTTGAAAAATAAATCACTAGATTAAAATTTATACTGTGCACTTAATAAAATATCCACGTGTAAATACAGGCTATTTTGCTTAATTACATTTGTGTGGCAGGCTTAGAAAAGTAAAGGATGTGAAGGAGTTTGCAGCTGTTGCCCTAGGATAGAAAGTTGTAGGAAGACCCTCCCTTATACTGTAATGTCTCTTAGGGGCAGTAGTTCTCATCAGGAAACATTGCTGCTTTCTTTAGTCTACGCTTAACCATATTGTCATTTATCCTTCCTACTGACGTCTCTTTTCTCTCCTTATAAAGGAGTATATAGCCAAGCAGTTTGGCTTCATGCAGAAGCAGATTGGCTATGATGTGTTGGCTGAAGACACTATCACTGCCCTGCTCCACAATGATCGGAAACTCCTGGAAAAACACATTACCGCGGCAGAGATTGACACATTTGTCAGCCTGGTGCGAAAGAACAGGGAGCCCAGGTGAGGCGGGAGTGGGGTCCATGCAGGATGGTGTCTCTGCCTGTAAGATGCAGGGACTTAGCTGGTGCTTTTTACTACGTTTCCTTGTGCTGCTAGTGACAAGTTTTGATTAGTTAGGTCTGGAGAGGCTTTTTGATGAGTAGTGGCAAGAACTTGGTGTTAAAATGAGACCTGGGGGTGCATTCCTAGCTCCAGTGTGTCCCACCTGGATGAGCTTGGGTTTTTTCCTGAACTTTAATTTCCTTATCTGCTAAATGGGTAGTTATGAAAATTAAATGAGAATAAACGCAGGTGACGTGCAGGCACTTAGTGGATGCAGAGGAAATGACAAATTGTTGGCCACTCATTCACTTTTTAAAAAATGTTCTTAATTTTAATTTTTAATTTTTGTGGGTACGTAGTAGGTGTATATATTTATGGGGTACATGAGATGTTTTGATGTAGGCATGCAATGTGTAATAATCACATTGTAGAGAATGGGGTATCCATCCCCTCAAACATTTATTTTTTGTTACAAAGAATTCAGTTCTATTCTTTTAGTTATTTTAAAATGTACAATTAAATTATTGACTGTAATTACCCCATTTACCTACAAACAGTAGGTCTTATTCATTCTGTAATTACCCAATTTACCTACAAACAGTAGGTCTTATTCGTTCTTTCTATTTTTTTTTTTTTTTTTTTTACCTGTTAACATCCCCACCTCCCCCCTGCCCTCCCACTATCTTTCCCAGCCTCTGGTAACCATCCTTCTACTCTGTGTCCATGAGTTCAATTGTTTTGATTTTTAGATCCTACAAATAAGTGAGAAGATGCGATGTTTGTCTTTCTGTGCTTGGCTTATTTCACTTAGCATTATGACCTCCTCCAGTTCCATCCATGTTGTTGCAAATGACTGGATCTCACTCTTTTCATTCCCTTTTTCTTTTTTTTTTTAAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGGGCAGTGGCGAGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTGTTCTGCCTCAGGCTCCCCAGTAGCTGCGACTACAGGCACGTGCCACCACACCCAGCTAATTTTTGTGTTTTTAATAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGTCCGCCTTTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCTCGGCCTCATTCACTTTTTAGCACCTCTTGCTTATCAGTTAAACACTCCCCTCCCTCAGTATAATCAGTAAGAGTCTTGCAAGTTCAGTTGTTGGTTGAGCGTTTTTATTATAGATTAGTGAATTCTATTGATTGTATCTCATTCACACAGATCTGCTCCTCTTTCGTACACCCTCTCCCCATTTCTTTCCCCTTCTCTTGTCCTTCTAATTAAGACCCATATTTTCAGTTGAAGCGGGAAGCAATTTACAATGTGGGTGTCACAAATGATTACAATGGAGCACGGACACAGTTGCTGTAAAAACACCTACTACCACCCTTGAAAATAACCCGCATTTTCTGGAGCCTGCTCAAGGGCTCAGGTAGTGAGCAATGGAAGCACTTCCGTTAATTATCTCATTTAATCCGCAGGACAGCCCTCAGAAGTGACACATTATCCTTTTCTGTAGACGAGCATCAATTAAAGCACAGTGAAATTAGTAATTTCCCCAAATGAACGCTCCATAGCAGAACTCCGCTAATAAGATCCTAACTGGGCTTCCAACACACGTAGCCAAACATCAGGGCGTTGCCTCTCACCACTGTGGTTCCCCTGTGTCTCCACCACACCTTCCTTATGTGAGCTGCTTTCTTGTCTTGTTCCTTCTTCTCATCTTTGCCTCATCACCTCTTCCTTGACCACAGCCACTCCTGTCTTTCCTTCTTGTTTCCTCTTCCTTCTTTCTGGCATGTGGCTTTCTGGTGATGCCATAAAC
Task1_train_5882
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.
Pathogenic; Spinocerebellar ataxia type 15/16
TATATTTTCAGTTACTGTTTTGTAGGGAAGGCTGCTCTTCCAGAGCTCTCAGAGGCCTTCCCTTTATTATGTTAGTAAATATTTAGTCTCTGGGCTTAGGTTGTTTTGGTGCTATCTTTGGAACTGTTAGTACTCAAGTCAGAGTTAACTTGGTTGGCTTGATTGGGAGGAGAGAGAGAGTGAGAGAGAGAGAGAGAGAAAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCCCACCTAGGACAGAAAGGATTTAAGGAGATTTCTCAAAATACCTACATTACAAGATTATTTTTACATAGTGAGGAAATGCAATCAAAAGAAGAATAGAAAGAGAGAGGGGCTCAAAACAGAGTGAAGTTAGTAAGATCATGTCCTGCTGCTGCTGCTGGGCTACAATTTTATCCCTGAGCTCCTTACAGGCTATGCAACAAAGAAAGCAAAATCTGGTCTTTCATTGTTCCTAATATTAATGTATGAACCCCTTTAAAAAAAAACCGCACTGGTCAATTTTGACTTAAGACATTATTATAATTATGGAACTCTTATACCTCCAAGTATAAAATTTGGTATAAACACCATATGCACATAGTTCTTATAATTAGCACACTTGGTTTGATTATTGCTTTATAACATATTACTCCAAAAAACTTAAGGATTCAAACCACCACCATTTTATTAATACTTCTTACAGTCCTGTGGCTTGATTAAGCTGGATGGTTCTTCTGCTGGTGGTCACTGTTGGGTCTGTCATACTGTAGTGAGGTGGTAACTGGGGCTGGCACCTCCAAGTTGGATTATTCACATTTCTGGCACTATAGCAGAGATGCCTGCAAGGCCAGAACTTCTTTCTCTCTCTGTCCATGTGGATAGCTTGGGCTTCTTTACAGCACGGTGGCTGACTCAAAAAGCAAATGTTCTAAGAGGACAAGCCAACAGTATGCAAGTGCTAATTGGGCCTCTGCTTGCATTGCATCTCCTAATATCTTATTGTTCAAGCAAATCCCATGGCCAAGCTCATTGTCAGTGTGGGAGGGGACTACATAAGGGTTTGAACACTCTGTTGGGGCCCACCAGTGTTAATAGTCTACCTCAATGCTTAATATAAAACCTGTGAAATTTGAATTAGCAACATTATGTACTATGATGGAAGATGTTTTTCTGAAACTTAAACATGGTATTGTGAGTTTAGCATAATACAGGTTCCATGTGCTGTGTGATCACTCAGCTCTCCCGCCATTTTCCTCATAGTGAACAGCATTGAAACCTTCACACCTTTTTGGAATACATAGCATGAATACAGTATTTATAAGTCTTCTCTGTGCTTTTCTTATTAGCCAGCAACCAGGAAGTTTCCACCATTTGTCATTCATTTGACTCTAAACCCAATATAGGTGCAGACCCAATAATTGACTAGCAGTGCTCAGTTATGGAGTAGTCTGCCATTTGATCTAGGATATGCTTATTAATATTTAAATATAGTCAGGCATGGTAGTGCATTCCTATAGTCCCAGCTACTCAGTATGCTAAGGCAGGAGGATCATTTGAGCATAGGAGTTTGAATTCAGCCTGGGCAACATAGCAAGACCTCATCTCTAAAAACTAAATACATAAACTAATAACTTAGGAGAAACACATCCTCTTGCAGTTCTCAGACCACAGACGAAGCCCAGCAGAAGAACACCCTATGTAGATGTTGAGAATCTAATGCTAGTCTTGTCACTTTGGCTTAAAATTTGACTTATCTTTTAATATGACATCTTCCTTGTCCCCTCACCTCATAATATAGTTGAAGATGAAGCAAGGCTGTATTGTTAAAGGAGCTAATGAAAAGTGAAATTGCATGTCTGGAGATCACAGTGCTAGAAATGCAACTAGGTTAGGTGCATCTGGGCCCAAGGGGCGTGAGAGGAGGCATTTGTCATTCATTTGGCCTTTCCCCACCTTGTGCTCCTTTAGTGAGGAGAACACCCCACTGGACTTGGATGACCACGGCGGCAGAACCTTTCTCCGTGTCCTGCTCCACTTGACGATGCATGACTACCCACCCCTGGTGTCAGGGGCCCTGCAGCTCCTCTTCCGGCACTTCAGCCAGAGGCAGGAGGTGCTCCAGGCCTTCAAACAGGTAGCTCAGGTCACCCACGTGTGTGTTGTCTGTCCAAGAAGCTGTTGTGTGCACCTAACGGATTGCGTTCATTAAGGTTCAACTGCTGGTTACCAGCCAAGATGTGGACAACTACAAACAGATCAAACAAGACTTGGATCAACTGAGGTCCATCGTGGAAAAGTCAGAGCTTTGGGTGTACAAAGGGCAGGGCCCCGATGAGACTATGGATGGTGCATCTGGAGAAAATGAACATAAGAAAACGGAGGTGAGTGAAACACAAGTTATGCTGCCAAAGTGGATGGATGGGCTTCTCGAAACTAGGGAGCATCCTCTTCTGGTTTTAGGTATAAATGTGATAGGATTTATTTTCAAGAGATCTGCTTGTTAAGTCACCAAGATCACAAGCTGTTTGCCTAGGAAATAAGCTACGAATCAAAGTTTAGCTATGTCTCCTGTGCAGCCTTGGACCATGTAGAAGAGACTGCGATATTGAGTGAATTAGCACCAGGTTTCCCTTACAGACCCACTTGGGAATTGACCTGTTCTCTAGGCATGGCCCAGCCCACTACTATCCCTTCCCAAGGAAACCCATAGCAAGTAGGTAGATGACTGGGGCATAAGCCCAGCATGACTATTGTAAAACAGTATAGAACTCCCTTTCTTTCCTAAAGGTCGATGCTAACTGTAAAAAACTGACAGTAGCCCAAGAGTTGTACAGATCACACTTGTGTTCACTTTGGTTTCTAGGAGGGAAATAACAAGCCACAAAAGCATGAAAGCACCAGCAGCTACAACTACAGAGTGGTCAAAGAGGTAAGCTCCTCCCCCACCACCATTTTTCCTTTCTTTATGAATTCTCTAAGGAGCTTTAGTTTGTGATAGTCAAGTTGAAGGTACACACATTTGAGCTTTTTTCTTCATGTGGTTTAACAGGGAGAAAGTAGAGCTCAGAGGTTAAGCTCATGGGTTTTGGCATCAGATCTGGGCTCCACACCCAGCTCTTCTACTTATTATTTTTGTCCTCAGCTTCCTCACCTTTTGTAGGTGCAACCTTTCGTAGGCACCGCATATTTCTGAAGCTTTACAATTGAAGGAAGGACTAATTGAGAATACTGTCAGGGAGTCATCTAAGTGCCTGGTACACAGTGTCCCCACTGAGAGCTGTAGTTTTTTAGAAACCTTTGCGTACGCTGGTTCAAAGTTGGGAGGCTGGGAGCTTTGTGTGTTTTACCCCAGAGCAAACTCTTCCCAGGGTCTCGGCAATGATGCCAGGTCATTCCATTTTAAGCGATATCTCTGAAACTGTCCCACTTGTTGTTGAAGCCATAATCCCCTGCTTATTCTGGAAGACGTGACCTTAGTCTTATGGATTTGGCTTGATGGAGTCAACAGAAATGCCACATACTGAAGGAATTTTGTTTTACGTTTTTAATGCATTATAATCCCCTTTGCCTCCCTGCCCGCCACCACCCTCTGCAATCTTTTTCCAGCTATAGTTCCTAGTTTTCTGAGACTGATTTCTTTCATTCTACTAGATTTTGATTCGGCTTAGCAAACTCTGTGTTCAAGAGAGTGCCTCAGTGAGAAAGAGCAGGAAGCAGCAACAGCGTCTGCTCCGGAACATGGGCGCGCACGCCGTGGTGCTGGAGCTGCTGCAGATTCCCTATGAGAAGGTGAGCGGTGCCTCATGCACAGCAGCTGCTCTCAGGATGGGGCGGATCCCTGGGTTTCCCCAAACTCTTCACATCTGGATATTGTTAGTGAAGAAATGCATCCAGTGTGACTATTGTGACTACAAAGCAATTTCAGGTATTGATATGAAACAGAGCATCTGAAAAATAAAGTAAAATCACCCGTGAATAATCCTCATCCCCAGTTTTAAGATTCTGTAAAGAAAGAGAGTCCATTTATTCTCCATACTCCCAAGACATATTGGATAGAGACAACTTGGTCTGTGTCAGAGCTTAGAGCTATATCTACCCATGA
TATATTTTCAGTTACTGTTTTGTAGGGAAGGCTGCTCTTCCAGAGCTCTCAGAGGCCTTCCCTTTATTATGTTAGTAAATATTTAGTCTCTGGGCTTAGGTTGTTTTGGTGCTATCTTTGGAACTGTTAGTACTCAAGTCAGAGTTAACTTGGTTGGCTTGATTGGGAGGAGAGAGAGAGTGAGAGAGAGAGAGAGAGAAAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCCCACCTAGGACAGAAAGGATTTAAGGAGATTTCTCAAAATACCTACATTACAAGATTATTTTTACATAGTGAGGAAATGCAATCAAAAGAAGAATAGAAAGAGAGAGGGGCTCAAAACAGAGTGAAGTTAGTAAGATCATGTCCTGCTGCTGCTGCTGGGCTACAATTTTATCCCTGAGCTCCTTACAGGCTATGCAACAAAGAAAGCAAAATCTGGTCTTTCATTGTTCCTAATATTAATGTATGAACCCCTTTAAAAAAAAACCGCACTGGTCAATTTTGACTTAAGACATTATTATAATTATGGAACTCTTATACCTCCAAGTATAAAATTTGGTATAAACACCATATGCACATAGTTCTTATAATTAGCACACTTGGTTTGATTATTGCTTTATAACATATTACTCCAAAAAACTTAAGGATTCAAACCACCACCATTTTATTAATACTTCTTACAGTCCTGTGGCTTGATTAAGCTGGATGGTTCTTCTGCTGGTGGTCACTGTTGGGTCTGTCATACTGTAGTGAGGTGGTAACTGGGGCTGGCACCTCCAAGTTGGATTATTCACATTTCTGGCACTATAGCAGAGATGCCTGCAAGGCCAGAACTTCTTTCTCTCTCTGTCCATGTGGATAGCTTGGGCTTCTTTACAGCACGGTGGCTGACTCAAAAAGCAAATGTTCTAAGAGGACAAGCCAACAGTATGCAAGTGCTAATTGGGCCTCTGCTTGCATTGCATCTCCTAATATCTTATTGTTCAAGCAAATCCCATGGCCAAGCTCATTGTCAGTGTGGGAGGGGACTACATAAGGGTTTGAACACTCTGTTGGGGCCCACCAGTGTTAATAGTCTACCTCAATGCTTAATATAAAACCTGTGAAATTTGAATTAGCAACATTATGTACTATGATGGAAGATGTTTTTCTGAAACTTAAACATGGTATTGTGAGTTTAGCATAATACAGGTTCCATGTGCTGTGTGATCACTCAGCTCTCCCGCCATTTTCCTCATAGTGAACAGCATTGAAACCTTCACACCTTTTTGGAATACATAGCATGAATACAGTATTTATAAGTCTTCTCTGTGCTTTTCTTATTAGCCAGCAACCAGGAAGTTTCCACCATTTGTCATTCATTTGACTCTAAACCCAATATAGGTGCAGACCCAATAATTGACTAGCAGTGCTCAGTTATGGAGTAGTCTGCCATTTGATCTAGGATATGCTTATTAATATTTAAATATAGTCAGGCATGGTAGTGCATTCCTATAGTCCCAGCTACTCAGTATGCTAAGGCAGGAGGATCATTTGAGCATAGGAGTTTGAATTCAGCCTGGGCAACATAGCAAGACCTCATCTCTAAAAACTAAATACATAAACTAATAACTTAGGAGAAACACATCCTCTTGCAGTTCTCAGACCACAGACGAAGCCCAGCAGAAGAACACCCTATGTAGATGTTGAGAATCTAATGCTAGTCTTGTCACTTTGGCTTAAAATTTGACTTATCTTTTAATATGACATCTTCCTTGTCCCCTCACCTCATAATATAGTTGAAGATGAAGCAAGGCTGTATTGTTAAAGGAGCTAATGAAAAGTGAAATTGCATGTCTGGAGATCACAGTGCTAGAAATGCAACTAGGTTAGGTGCATCTGGGCCCAAGGGGCGTGAGAGGAGGCATTTGTCATTCATTTGGCCTTTCCCCACCTTGTGCTCCTTTAGTGAGGAGAACACCCCACTGGACTTGGATGACCACGGCGGCAGAACCTTTCTCCGTGTCCTGCTCCACTTGACGATGCATGACTACCTACCCCTGGTGTCAGGGGCCCTGCAGCTCCTCTTCCGGCACTTCAGCCAGAGGCAGGAGGTGCTCCAGGCCTTCAAACAGGTAGCTCAGGTCACCCACGTGTGTGTTGTCTGTCCAAGAAGCTGTTGTGTGCACCTAACGGATTGCGTTCATTAAGGTTCAACTGCTGGTTACCAGCCAAGATGTGGACAACTACAAACAGATCAAACAAGACTTGGATCAACTGAGGTCCATCGTGGAAAAGTCAGAGCTTTGGGTGTACAAAGGGCAGGGCCCCGATGAGACTATGGATGGTGCATCTGGAGAAAATGAACATAAGAAAACGGAGGTGAGTGAAACACAAGTTATGCTGCCAAAGTGGATGGATGGGCTTCTCGAAACTAGGGAGCATCCTCTTCTGGTTTTAGGTATAAATGTGATAGGATTTATTTTCAAGAGATCTGCTTGTTAAGTCACCAAGATCACAAGCTGTTTGCCTAGGAAATAAGCTACGAATCAAAGTTTAGCTATGTCTCCTGTGCAGCCTTGGACCATGTAGAAGAGACTGCGATATTGAGTGAATTAGCACCAGGTTTCCCTTACAGACCCACTTGGGAATTGACCTGTTCTCTAGGCATGGCCCAGCCCACTACTATCCCTTCCCAAGGAAACCCATAGCAAGTAGGTAGATGACTGGGGCATAAGCCCAGCATGACTATTGTAAAACAGTATAGAACTCCCTTTCTTTCCTAAAGGTCGATGCTAACTGTAAAAAACTGACAGTAGCCCAAGAGTTGTACAGATCACACTTGTGTTCACTTTGGTTTCTAGGAGGGAAATAACAAGCCACAAAAGCATGAAAGCACCAGCAGCTACAACTACAGAGTGGTCAAAGAGGTAAGCTCCTCCCCCACCACCATTTTTCCTTTCTTTATGAATTCTCTAAGGAGCTTTAGTTTGTGATAGTCAAGTTGAAGGTACACACATTTGAGCTTTTTTCTTCATGTGGTTTAACAGGGAGAAAGTAGAGCTCAGAGGTTAAGCTCATGGGTTTTGGCATCAGATCTGGGCTCCACACCCAGCTCTTCTACTTATTATTTTTGTCCTCAGCTTCCTCACCTTTTGTAGGTGCAACCTTTCGTAGGCACCGCATATTTCTGAAGCTTTACAATTGAAGGAAGGACTAATTGAGAATACTGTCAGGGAGTCATCTAAGTGCCTGGTACACAGTGTCCCCACTGAGAGCTGTAGTTTTTTAGAAACCTTTGCGTACGCTGGTTCAAAGTTGGGAGGCTGGGAGCTTTGTGTGTTTTACCCCAGAGCAAACTCTTCCCAGGGTCTCGGCAATGATGCCAGGTCATTCCATTTTAAGCGATATCTCTGAAACTGTCCCACTTGTTGTTGAAGCCATAATCCCCTGCTTATTCTGGAAGACGTGACCTTAGTCTTATGGATTTGGCTTGATGGAGTCAACAGAAATGCCACATACTGAAGGAATTTTGTTTTACGTTTTTAATGCATTATAATCCCCTTTGCCTCCCTGCCCGCCACCACCCTCTGCAATCTTTTTCCAGCTATAGTTCCTAGTTTTCTGAGACTGATTTCTTTCATTCTACTAGATTTTGATTCGGCTTAGCAAACTCTGTGTTCAAGAGAGTGCCTCAGTGAGAAAGAGCAGGAAGCAGCAACAGCGTCTGCTCCGGAACATGGGCGCGCACGCCGTGGTGCTGGAGCTGCTGCAGATTCCCTATGAGAAGGTGAGCGGTGCCTCATGCACAGCAGCTGCTCTCAGGATGGGGCGGATCCCTGGGTTTCCCCAAACTCTTCACATCTGGATATTGTTAGTGAAGAAATGCATCCAGTGTGACTATTGTGACTACAAAGCAATTTCAGGTATTGATATGAAACAGAGCATCTGAAAAATAAAGTAAAATCACCCGTGAATAATCCTCATCCCCAGTTTTAAGATTCTGTAAAGAAAGAGAGTCCATTTATTCTCCATACTCCCAAGACATATTGGATAGAGACAACTTGGTCTGTGTCAGAGCTTAGAGCTATATCTACCCATGA
Task1_train_5883
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?
Pathogenic; Spinocerebellar ataxia type 29
GCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCAGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCTGGCATGGCGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCCGAGATCACGCCGCTGCACTCCAGCCTGGGCGACAGGAGCGCAACTCTGTCTCAAAAAAACAAAAAAATCCCTACCTGTTGGGTACTCTGTTCTCTATCTGGGTGATGGGTTCGATCATACCCTAAACCTCAGCATTAAGCAATACACTTCTGCAGCAAACCTGCACGGGTACCCCCTGATTCTAAGATAAAAGTTGGAAAAAAGAAAAAAAAAAGTTGTGCTTGTTGAGGCCAAAGGAAACGTAGGAGGAAGCCCTTGCCACAGAGGTTAGTTTTTGTTTAATATTTTAGCAAGTGGTTGACTTGACTAGTAGCTCAGTGCTCATTAGAGAGGGGAAGTCTTTCCATTTGTCTTGGTGGTGATAAGACAAAAGACAAGGAGAGTTGATGTCTGTGGAACGGTAAGACATGAAAACAGCACTACCCAGAGTCCCCTCTGTGCCTCTTGGGGGTCGCTTCCTCATGACTAATACCACACCCAGAACCCACTGTGTTAGTTGTTTAGCTTATGAATATCCAAGGCATAGAGTTTCTAGCTGTGACGGGTGTACCCTGTGCATCCTGCTTTTCAATTGTTAATTATTTGTATTTTTCCAAATTTCCCACTTTCTATATTAGACTGTTAGAAAGTTGTTGGCTGGCTTATAGTTTTTTTTCCGCTAAATTGTGTGTGTGTGTATGTTTTTAAATGGGATTTAAATAATTGCTTCTCAGATTCCTCTTTCAGGATGTTGGAGTTGTTTTTACAATTAGATAGTTGAGTACTTTCTTTGCTTCTAGTGTTTTGAAGCATTGAAGACAGGAAATCATTGTTTTTTGGACATTTTCCCATATGGAAAAGAGTGATTATTAGTCTTAATTATCTTCCTTTTCAAAATCTTTTATTTTGGAATAATTTCAGGTTTATGGGACTGTAGCAAGGGTAATACAGAGAGTTCCCACAAATCCCTCACCCATTGTCACCCGTTGTCAGCATCTTACATTAGCAGGGCACCTTTGTCAAGGCTAGGAAACTGACACTGGTACAGTGCTATTACCTCAACTCCAGGCTCGATTCGAATTTCACCACTTTTCCCACTGCTGTCCCTTGTCATGCCCTTTTTCTGTTCCAGGATTTGGTCCAGGTACCACCTTGCATTTGGTTGTCATGTCTCTCCAGTCTCTTCTGGTCTGTGACCATTTCTCAGCCTTTCCTTGTTTCTTATGACCTTGACAGTCTTGACAAGTACTAGTCAGGAGTCCTGTAGAGTGTCTCCCATTATGGGTTTGACTGATGTTTGTCTCATGCTTAGACTGGAGTTCTCCTTTTTTAAGACGAAGAAAGAAGCACCTATCCAGAAAGAGGAGTTTATGCCATTGTGAATGCTACCTTTAGGATTATGTTTGGGATAACCCAGCATTTTTGTAGATTGTTGAACAAACCTGAAAAATAACTAGCAAATGATTCATTGGCCAAACGAGTTCCCTGTCTTGATTATTCTTAAAATACACACACACCTCAGTGACCCTAAGAAGCCATTCATTGAGGAAACCCATTGAACTTTAACTCTGACATGCCCTGGCCTTATGACCTGAGAGCATTTTAACATTCCTAAGAACTGCTTCCCCCCAGAATTCACACTGGGAAACCCTGACCTAAAAGATGGTAAAGTTGACTTGAGCTTCTCAGTCTTTAAGCTCAATACCAGGCAAGCTGGCCCATTCTGGGTGTGAAAAACCTGCTGGATGGGGACTAGGGCATTACGTCCATCTGTAGGGTGTCCCCCATAAAAGTTGTAGGCTCACGACTCATCTTTCTCCTGTGCAGCCAAGAGCCGGGCCATTGCCATTCCCGTGGACCTGGACAGCCAAGTCAACAACCTCTTTCTCAAGTCCCACAGCATTGTGCAGAAAACAGCCATGAACTGGCGGCTCTCAGCCCGCAATGCCGCACGCAGGGACTCTGTTCTGGCAGCTTCCAGAGACTACCGGAATATCATTGAGAGATTGCAGGTAATGCCTGGTGTTGAGAGAAGTGATGCTTAGCCTGGCCTCACGTGATTGCCACACACAGCAGTGCATCCTTGAGCCACAGAGCATCTAAGCTGGGCCGTGGGAAGATGTCGGTGTGCTGAACGAATAGTCAAATGTTATATATGTAGGGCCAGGAGTGGGAAGTTACTTAGGAATAGAAAAGTTCCTGAAAAGTGATGGTCTTTAAAGGTTACTCCTAGATTTGCAGATTTCTTGGTGAAAAATTGGGACTCTGCTCTTATTAGAAGGAAGTATTGAAGTATTACAGAGGATGTTTAGAGTAAGAGCATAAATGTTCCATTTTCCCCATCACTCTGGGGTTATTTAGCCTCTTGAATCAGCAGGTGAACAAGGGTGGTGATACCTGAGAGAAGAATTTTACATCAGAATGAGCCAGATGGAAACAAAAGTATTCCTTCCAGCTAGATTATTTACCTTTTTTCGTAGAATCTACCAAGACATCTGCTCTCCTTTTGTTAAAGGGGAGAGTAGTGAGTATTAGATGTTAAGCACTTAAACATGCATCTTAACATTAACGTATTTTTTATACAAGCACCTCAGTTGATGCTCTCACAGGTAGTACATAGGTCACAGTTTGAGAATCGCAGATCCTTTGAATGAGCCCACAAGCAGTGTTTAAGAGTGTAGTCTCAGGCCAGTGCCTGGGTTAAATTTAAATCCTGGCTCTGCCGCTTAGAAATGGTGTAATCTTGGGAAAGTTACTTGACTTCTCGGTCCTTCAGATTCCTAGTCTGTAAAACAGTAGCACCTACCTCGTGGGGTTGATGTGAGGATTAAGAGAGTTGATAATATGTCCCAGTTACCTGTATTTCGTGCAGTAAATCACAACAATTACCTTATTCTCTTTTGCTCTTCTGGAGGTTGACTGGGCTCCGCTAGCTATTTCTTGCTTAGAGTCTTTCATGGCGTTGCAGTCAGATAGTGACTGCGGTTGGACTCATCTTGACACCTTGCTCACTCGCATATTTGGCAGTTGATGCTGGTTGTCAGGTGGGACCTCAGCTGGAGTTGTCGACTGAAACATCTCCATATAGCCTGGGCTTCCTCACATCATGGCGGCTGTGTCCCAAGATGAGTGTGTGTAGAGAGAGACAAGTGAAAACTTTATTGTTGTTATGACCTAGTTTCAGAAGTCACATAGCGTCACTTTTACTGTACTCTTTTGGTCAAGGCAGTCTCAAAGGTTCACTCCAGTTCAGGGGGAGGGAATCTAGACCATCATTCAGTGAAAGGGATGTCAGTGTCACATTGTAAGAAGAATGTGAAAGACAGGATGTATTGTGGTATAGCCATCTTAGGAAAATAGAGTGCACATAAAACACATAGAGCAGTGCCTGGCATGTAGTGAGCACTCAGTTGAGGGCTGCTATTATTATTATTACTATTATTACTGTTGTTTACTGCTATGATTGTAATAGTTACTGAGTCTCTGTACAGTTACACAACCTACTTGAAGACAGATGAATTCGTTAAATCATTCATCAGCTCCATGCTAGGCTCTGGGGATACAGTGGTCAGCAAAACCAGAAATGATGATCTTTGTCTCATAGTATCTCAAGTATCAGAAGGGAGAAAGAGACATTAATTTTAAATATAAAATGGTGAGAGGGACAAGTGAGAAGTGCAGAGAAGTGAGGAGCGCTTGAAAGATTCTGATGAGGAAACTAATTTTGTCTGAGGTTAGGGATGAGGGTCAAGGAAGACCTTGCTGAGGAAAGTAACATTTTGAACCAAGATGAGAAGGAACAGCAGGACTTAAAGAATAAAAGGGAGGGAAACAGCATGTGTAAAGACCGTTATACCGAAAAGAAGATGAAAATAAAAGTATTACTCAATTCCAGCTAGAT
GCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCAGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCTGGCATGGCGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCCGAGATCACGCCGCTGCACTCCAGCCTGGGCGACAGGAGCGCAACTCTGTCTCAAAAAAACAAAAAAATCCCTACCTGTTGGGTACTCTGTTCTCTATCTGGGTGATGGGTTCGATCATACCCTAAACCTCAGCATTAAGCAATACACTTCTGCAGCAAACCTGCACGGGTACCCCCTGATTCTAAGATAAAAGTTGGAAAAAAGAAAAAAAAAAGTTGTGCTTGTTGAGGCCAAAGGAAACGTAGGAGGAAGCCCTTGCCACAGAGGTTAGTTTTTGTTTAATATTTTAGCAAGTGGTTGACTTGACTAGTAGCTCAGTGCTCATTAGAGAGGGGAAGTCTTTCCATTTGTCTTGGTGGTGATAAGACAAAAGACAAGGAGAGTTGATGTCTGTGGAACGGTAAGACATGAAAACAGCACTACCCAGAGTCCCCTCTGTGCCTCTTGGGGGTCGCTTCCTCATGACTAATACCACACCCAGAACCCACTGTGTTAGTTGTTTAGCTTATGAATATCCAAGGCATAGAGTTTCTAGCTGTGACGGGTGTACCCTGTGCATCCTGCTTTTCAATTGTTAATTATTTGTATTTTTCCAAATTTCCCACTTTCTATATTAGACTGTTAGAAAGTTGTTGGCTGGCTTATAGTTTTTTTTCCGCTAAATTGTGTGTGTGTGTATGTTTTTAAATGGGATTTAAATAATTGCTTCTCAGATTCCTCTTTCAGGATGTTGGAGTTGTTTTTACAATTAGATAGTTGAGTACTTTCTTTGCTTCTAGTGTTTTGAAGCATTGAAGACAGGAAATCATTGTTTTTTGGACATTTTCCCATATGGAAAAGAGTGATTATTAGTCTTAATTATCTTCCTTTTCAAAATCTTTTATTTTGGAATAATTTCAGGTTTATGGGACTGTAGCAAGGGTAATACAGAGAGTTCCCACAAATCCCTCACCCATTGTCACCCGTTGTCAGCATCTTACATTAGCAGGGCACCTTTGTCAAGGCTAGGAAACTGACACTGGTACAGTGCTATTACCTCAACTCCAGGCTCGATTCGAATTTCACCACTTTTCCCACTGCTGTCCCTTGTCATGCCCTTTTTCTGTTCCAGGATTTGGTCCAGGTACCACCTTGCATTTGGTTGTCATGTCTCTCCAGTCTCTTCTGGTCTGTGACCATTTCTCAGCCTTTCCTTGTTTCTTATGACCTTGACAGTCTTGACAAGTACTAGTCAGGAGTCCTGTAGAGTGTCTCCCATTATGGGTTTGACTGATGTTTGTCTCATGCTTAGACTGGAGTTCTCCTTTTTTAAGACGAAGAAAGAAGCACCTATCCAGAAAGAGGAGTTTATGCCATTGTGAATGCTACCTTTAGGATTATGTTTGGGATAACCCAGCATTTTTGTAGATTGTTGAACAAACCTGAAAAATAACTAGCAAATGATTCATTGGCCAAACGAGTTCCCTGTCTTGATTATTCTTAAAATACACACACACCTCAGTGACCCTAAGAAGCCATTCATTGAGGAAACCCATTGAACTTTAACTCTGACATGCCCTGGCCTTATGACCTGAGAGCATTTTAACATTCCTAAGAACTGCTTCCCCCCAGAATTCACACTGGGAAACCCTGACCTAAAAGATGGTAAAGTTGACTTGAGCTTCTCAGTCTTTAAGCTCAATACCAGGCAAGCTGGCCCATTCTGGGTGTGAAAAACCTGCTGGATGGGGACTAGGGCATTACGTCCATCTGTAGGGTGTCCCCCATAAAAGTTGTAGGCTCACGACTCATCTTTCTCCTGTGCAGCCAAGAGCCGGGCCATTGCCATTCCCATGGACCTGGACAGCCAAGTCAACAACCTCTTTCTCAAGTCCCACAGCATTGTGCAGAAAACAGCCATGAACTGGCGGCTCTCAGCCCGCAATGCCGCACGCAGGGACTCTGTTCTGGCAGCTTCCAGAGACTACCGGAATATCATTGAGAGATTGCAGGTAATGCCTGGTGTTGAGAGAAGTGATGCTTAGCCTGGCCTCACGTGATTGCCACACACAGCAGTGCATCCTTGAGCCACAGAGCATCTAAGCTGGGCCGTGGGAAGATGTCGGTGTGCTGAACGAATAGTCAAATGTTATATATGTAGGGCCAGGAGTGGGAAGTTACTTAGGAATAGAAAAGTTCCTGAAAAGTGATGGTCTTTAAAGGTTACTCCTAGATTTGCAGATTTCTTGGTGAAAAATTGGGACTCTGCTCTTATTAGAAGGAAGTATTGAAGTATTACAGAGGATGTTTAGAGTAAGAGCATAAATGTTCCATTTTCCCCATCACTCTGGGGTTATTTAGCCTCTTGAATCAGCAGGTGAACAAGGGTGGTGATACCTGAGAGAAGAATTTTACATCAGAATGAGCCAGATGGAAACAAAAGTATTCCTTCCAGCTAGATTATTTACCTTTTTTCGTAGAATCTACCAAGACATCTGCTCTCCTTTTGTTAAAGGGGAGAGTAGTGAGTATTAGATGTTAAGCACTTAAACATGCATCTTAACATTAACGTATTTTTTATACAAGCACCTCAGTTGATGCTCTCACAGGTAGTACATAGGTCACAGTTTGAGAATCGCAGATCCTTTGAATGAGCCCACAAGCAGTGTTTAAGAGTGTAGTCTCAGGCCAGTGCCTGGGTTAAATTTAAATCCTGGCTCTGCCGCTTAGAAATGGTGTAATCTTGGGAAAGTTACTTGACTTCTCGGTCCTTCAGATTCCTAGTCTGTAAAACAGTAGCACCTACCTCGTGGGGTTGATGTGAGGATTAAGAGAGTTGATAATATGTCCCAGTTACCTGTATTTCGTGCAGTAAATCACAACAATTACCTTATTCTCTTTTGCTCTTCTGGAGGTTGACTGGGCTCCGCTAGCTATTTCTTGCTTAGAGTCTTTCATGGCGTTGCAGTCAGATAGTGACTGCGGTTGGACTCATCTTGACACCTTGCTCACTCGCATATTTGGCAGTTGATGCTGGTTGTCAGGTGGGACCTCAGCTGGAGTTGTCGACTGAAACATCTCCATATAGCCTGGGCTTCCTCACATCATGGCGGCTGTGTCCCAAGATGAGTGTGTGTAGAGAGAGACAAGTGAAAACTTTATTGTTGTTATGACCTAGTTTCAGAAGTCACATAGCGTCACTTTTACTGTACTCTTTTGGTCAAGGCAGTCTCAAAGGTTCACTCCAGTTCAGGGGGAGGGAATCTAGACCATCATTCAGTGAAAGGGATGTCAGTGTCACATTGTAAGAAGAATGTGAAAGACAGGATGTATTGTGGTATAGCCATCTTAGGAAAATAGAGTGCACATAAAACACATAGAGCAGTGCCTGGCATGTAGTGAGCACTCAGTTGAGGGCTGCTATTATTATTATTACTATTATTACTGTTGTTTACTGCTATGATTGTAATAGTTACTGAGTCTCTGTACAGTTACACAACCTACTTGAAGACAGATGAATTCGTTAAATCATTCATCAGCTCCATGCTAGGCTCTGGGGATACAGTGGTCAGCAAAACCAGAAATGATGATCTTTGTCTCATAGTATCTCAAGTATCAGAAGGGAGAAAGAGACATTAATTTTAAATATAAAATGGTGAGAGGGACAAGTGAGAAGTGCAGAGAAGTGAGGAGCGCTTGAAAGATTCTGATGAGGAAACTAATTTTGTCTGAGGTTAGGGATGAGGGTCAAGGAAGACCTTGCTGAGGAAAGTAACATTTTGAACCAAGATGAGAAGGAACAGCAGGACTTAAAGAATAAAAGGGAGGGAAACAGCATGTGTAAAGACCGTTATACCGAAAAGAAGATGAAAATAAAAGTATTACTCAATTCCAGCTAGAT
Task1_train_5884
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.
Pathogenic; Neurodevelopmental disorder
GCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCAGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCTGGCATGGCGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCCGAGATCACGCCGCTGCACTCCAGCCTGGGCGACAGGAGCGCAACTCTGTCTCAAAAAAACAAAAAAATCCCTACCTGTTGGGTACTCTGTTCTCTATCTGGGTGATGGGTTCGATCATACCCTAAACCTCAGCATTAAGCAATACACTTCTGCAGCAAACCTGCACGGGTACCCCCTGATTCTAAGATAAAAGTTGGAAAAAAGAAAAAAAAAAGTTGTGCTTGTTGAGGCCAAAGGAAACGTAGGAGGAAGCCCTTGCCACAGAGGTTAGTTTTTGTTTAATATTTTAGCAAGTGGTTGACTTGACTAGTAGCTCAGTGCTCATTAGAGAGGGGAAGTCTTTCCATTTGTCTTGGTGGTGATAAGACAAAAGACAAGGAGAGTTGATGTCTGTGGAACGGTAAGACATGAAAACAGCACTACCCAGAGTCCCCTCTGTGCCTCTTGGGGGTCGCTTCCTCATGACTAATACCACACCCAGAACCCACTGTGTTAGTTGTTTAGCTTATGAATATCCAAGGCATAGAGTTTCTAGCTGTGACGGGTGTACCCTGTGCATCCTGCTTTTCAATTGTTAATTATTTGTATTTTTCCAAATTTCCCACTTTCTATATTAGACTGTTAGAAAGTTGTTGGCTGGCTTATAGTTTTTTTTCCGCTAAATTGTGTGTGTGTGTATGTTTTTAAATGGGATTTAAATAATTGCTTCTCAGATTCCTCTTTCAGGATGTTGGAGTTGTTTTTACAATTAGATAGTTGAGTACTTTCTTTGCTTCTAGTGTTTTGAAGCATTGAAGACAGGAAATCATTGTTTTTTGGACATTTTCCCATATGGAAAAGAGTGATTATTAGTCTTAATTATCTTCCTTTTCAAAATCTTTTATTTTGGAATAATTTCAGGTTTATGGGACTGTAGCAAGGGTAATACAGAGAGTTCCCACAAATCCCTCACCCATTGTCACCCGTTGTCAGCATCTTACATTAGCAGGGCACCTTTGTCAAGGCTAGGAAACTGACACTGGTACAGTGCTATTACCTCAACTCCAGGCTCGATTCGAATTTCACCACTTTTCCCACTGCTGTCCCTTGTCATGCCCTTTTTCTGTTCCAGGATTTGGTCCAGGTACCACCTTGCATTTGGTTGTCATGTCTCTCCAGTCTCTTCTGGTCTGTGACCATTTCTCAGCCTTTCCTTGTTTCTTATGACCTTGACAGTCTTGACAAGTACTAGTCAGGAGTCCTGTAGAGTGTCTCCCATTATGGGTTTGACTGATGTTTGTCTCATGCTTAGACTGGAGTTCTCCTTTTTTAAGACGAAGAAAGAAGCACCTATCCAGAAAGAGGAGTTTATGCCATTGTGAATGCTACCTTTAGGATTATGTTTGGGATAACCCAGCATTTTTGTAGATTGTTGAACAAACCTGAAAAATAACTAGCAAATGATTCATTGGCCAAACGAGTTCCCTGTCTTGATTATTCTTAAAATACACACACACCTCAGTGACCCTAAGAAGCCATTCATTGAGGAAACCCATTGAACTTTAACTCTGACATGCCCTGGCCTTATGACCTGAGAGCATTTTAACATTCCTAAGAACTGCTTCCCCCCAGAATTCACACTGGGAAACCCTGACCTAAAAGATGGTAAAGTTGACTTGAGCTTCTCAGTCTTTAAGCTCAATACCAGGCAAGCTGGCCCATTCTGGGTGTGAAAAACCTGCTGGATGGGGACTAGGGCATTACGTCCATCTGTAGGGTGTCCCCCATAAAAGTTGTAGGCTCACGACTCATCTTTCTCCTGTGCAGCCAAGAGCCGGGCCATTGCCATTCCCGTGGACCTGGACAGCCAAGTCAACAACCTCTTTCTCAAGTCCCACAGCATTGTGCAGAAAACAGCCATGAACTGGCGGCTCTCAGCCCGCAATGCCGCACGCAGGGACTCTGTTCTGGCAGCTTCCAGAGACTACCGGAATATCATTGAGAGATTGCAGGTAATGCCTGGTGTTGAGAGAAGTGATGCTTAGCCTGGCCTCACGTGATTGCCACACACAGCAGTGCATCCTTGAGCCACAGAGCATCTAAGCTGGGCCGTGGGAAGATGTCGGTGTGCTGAACGAATAGTCAAATGTTATATATGTAGGGCCAGGAGTGGGAAGTTACTTAGGAATAGAAAAGTTCCTGAAAAGTGATGGTCTTTAAAGGTTACTCCTAGATTTGCAGATTTCTTGGTGAAAAATTGGGACTCTGCTCTTATTAGAAGGAAGTATTGAAGTATTACAGAGGATGTTTAGAGTAAGAGCATAAATGTTCCATTTTCCCCATCACTCTGGGGTTATTTAGCCTCTTGAATCAGCAGGTGAACAAGGGTGGTGATACCTGAGAGAAGAATTTTACATCAGAATGAGCCAGATGGAAACAAAAGTATTCCTTCCAGCTAGATTATTTACCTTTTTTCGTAGAATCTACCAAGACATCTGCTCTCCTTTTGTTAAAGGGGAGAGTAGTGAGTATTAGATGTTAAGCACTTAAACATGCATCTTAACATTAACGTATTTTTTATACAAGCACCTCAGTTGATGCTCTCACAGGTAGTACATAGGTCACAGTTTGAGAATCGCAGATCCTTTGAATGAGCCCACAAGCAGTGTTTAAGAGTGTAGTCTCAGGCCAGTGCCTGGGTTAAATTTAAATCCTGGCTCTGCCGCTTAGAAATGGTGTAATCTTGGGAAAGTTACTTGACTTCTCGGTCCTTCAGATTCCTAGTCTGTAAAACAGTAGCACCTACCTCGTGGGGTTGATGTGAGGATTAAGAGAGTTGATAATATGTCCCAGTTACCTGTATTTCGTGCAGTAAATCACAACAATTACCTTATTCTCTTTTGCTCTTCTGGAGGTTGACTGGGCTCCGCTAGCTATTTCTTGCTTAGAGTCTTTCATGGCGTTGCAGTCAGATAGTGACTGCGGTTGGACTCATCTTGACACCTTGCTCACTCGCATATTTGGCAGTTGATGCTGGTTGTCAGGTGGGACCTCAGCTGGAGTTGTCGACTGAAACATCTCCATATAGCCTGGGCTTCCTCACATCATGGCGGCTGTGTCCCAAGATGAGTGTGTGTAGAGAGAGACAAGTGAAAACTTTATTGTTGTTATGACCTAGTTTCAGAAGTCACATAGCGTCACTTTTACTGTACTCTTTTGGTCAAGGCAGTCTCAAAGGTTCACTCCAGTTCAGGGGGAGGGAATCTAGACCATCATTCAGTGAAAGGGATGTCAGTGTCACATTGTAAGAAGAATGTGAAAGACAGGATGTATTGTGGTATAGCCATCTTAGGAAAATAGAGTGCACATAAAACACATAGAGCAGTGCCTGGCATGTAGTGAGCACTCAGTTGAGGGCTGCTATTATTATTATTACTATTATTACTGTTGTTTACTGCTATGATTGTAATAGTTACTGAGTCTCTGTACAGTTACACAACCTACTTGAAGACAGATGAATTCGTTAAATCATTCATCAGCTCCATGCTAGGCTCTGGGGATACAGTGGTCAGCAAAACCAGAAATGATGATCTTTGTCTCATAGTATCTCAAGTATCAGAAGGGAGAAAGAGACATTAATTTTAAATATAAAATGGTGAGAGGGACAAGTGAGAAGTGCAGAGAAGTGAGGAGCGCTTGAAAGATTCTGATGAGGAAACTAATTTTGTCTGAGGTTAGGGATGAGGGTCAAGGAAGACCTTGCTGAGGAAAGTAACATTTTGAACCAAGATGAGAAGGAACAGCAGGACTTAAAGAATAAAAGGGAGGGAAACAGCATGTGTAAAGACCGTTATACCGAAAAGAAGATGAAAATAAAAGTATTACTCAATTCCAGCTAGAT
GCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCAGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCTGGCATGGCGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCCGAGATCACGCCGCTGCACTCCAGCCTGGGCGACAGGAGCGCAACTCTGTCTCAAAAAAACAAAAAAATCCCTACCTGTTGGGTACTCTGTTCTCTATCTGGGTGATGGGTTCGATCATACCCTAAACCTCAGCATTAAGCAATACACTTCTGCAGCAAACCTGCACGGGTACCCCCTGATTCTAAGATAAAAGTTGGAAAAAAGAAAAAAAAAAGTTGTGCTTGTTGAGGCCAAAGGAAACGTAGGAGGAAGCCCTTGCCACAGAGGTTAGTTTTTGTTTAATATTTTAGCAAGTGGTTGACTTGACTAGTAGCTCAGTGCTCATTAGAGAGGGGAAGTCTTTCCATTTGTCTTGGTGGTGATAAGACAAAAGACAAGGAGAGTTGATGTCTGTGGAACGGTAAGACATGAAAACAGCACTACCCAGAGTCCCCTCTGTGCCTCTTGGGGGTCGCTTCCTCATGACTAATACCACACCCAGAACCCACTGTGTTAGTTGTTTAGCTTATGAATATCCAAGGCATAGAGTTTCTAGCTGTGACGGGTGTACCCTGTGCATCCTGCTTTTCAATTGTTAATTATTTGTATTTTTCCAAATTTCCCACTTTCTATATTAGACTGTTAGAAAGTTGTTGGCTGGCTTATAGTTTTTTTTCCGCTAAATTGTGTGTGTGTGTATGTTTTTAAATGGGATTTAAATAATTGCTTCTCAGATTCCTCTTTCAGGATGTTGGAGTTGTTTTTACAATTAGATAGTTGAGTACTTTCTTTGCTTCTAGTGTTTTGAAGCATTGAAGACAGGAAATCATTGTTTTTTGGACATTTTCCCATATGGAAAAGAGTGATTATTAGTCTTAATTATCTTCCTTTTCAAAATCTTTTATTTTGGAATAATTTCAGGTTTATGGGACTGTAGCAAGGGTAATACAGAGAGTTCCCACAAATCCCTCACCCATTGTCACCCGTTGTCAGCATCTTACATTAGCAGGGCACCTTTGTCAAGGCTAGGAAACTGACACTGGTACAGTGCTATTACCTCAACTCCAGGCTCGATTCGAATTTCACCACTTTTCCCACTGCTGTCCCTTGTCATGCCCTTTTTCTGTTCCAGGATTTGGTCCAGGTACCACCTTGCATTTGGTTGTCATGTCTCTCCAGTCTCTTCTGGTCTGTGACCATTTCTCAGCCTTTCCTTGTTTCTTATGACCTTGACAGTCTTGACAAGTACTAGTCAGGAGTCCTGTAGAGTGTCTCCCATTATGGGTTTGACTGATGTTTGTCTCATGCTTAGACTGGAGTTCTCCTTTTTTAAGACGAAGAAAGAAGCACCTATCCAGAAAGAGGAGTTTATGCCATTGTGAATGCTACCTTTAGGATTATGTTTGGGATAACCCAGCATTTTTGTAGATTGTTGAACAAACCTGAAAAATAACTAGCAAATGATTCATTGGCCAAACGAGTTCCCTGTCTTGATTATTCTTAAAATACACACACACCTCAGTGACCCTAAGAAGCCATTCATTGAGGAAACCCATTGAACTTTAACTCTGACATGCCCTGGCCTTATGACCTGAGAGCATTTTAACATTCCTAAGAACTGCTTCCCCCCAGAATTCACACTGGGAAACCCTGACCTAAAAGATGGTAAAGTTGACTTGAGCTTCTCAGTCTTTAAGCTCAATACCAGGCAAGCTGGCCCATTCTGGGTGTGAAAAACCTGCTGGATGGGGACTAGGGCATTACGTCCATCTGTAGGGTGTCCCCCATAAAAGTTGTAGGCTCACGACTCATCTTTCTCCTGTGCAGCCAAGAGCCGGGCCATTGCCATTCCCATGGACCTGGACAGCCAAGTCAACAACCTCTTTCTCAAGTCCCACAGCATTGTGCAGAAAACAGCCATGAACTGGCGGCTCTCAGCCCGCAATGCCGCACGCAGGGACTCTGTTCTGGCAGCTTCCAGAGACTACCGGAATATCATTGAGAGATTGCAGGTAATGCCTGGTGTTGAGAGAAGTGATGCTTAGCCTGGCCTCACGTGATTGCCACACACAGCAGTGCATCCTTGAGCCACAGAGCATCTAAGCTGGGCCGTGGGAAGATGTCGGTGTGCTGAACGAATAGTCAAATGTTATATATGTAGGGCCAGGAGTGGGAAGTTACTTAGGAATAGAAAAGTTCCTGAAAAGTGATGGTCTTTAAAGGTTACTCCTAGATTTGCAGATTTCTTGGTGAAAAATTGGGACTCTGCTCTTATTAGAAGGAAGTATTGAAGTATTACAGAGGATGTTTAGAGTAAGAGCATAAATGTTCCATTTTCCCCATCACTCTGGGGTTATTTAGCCTCTTGAATCAGCAGGTGAACAAGGGTGGTGATACCTGAGAGAAGAATTTTACATCAGAATGAGCCAGATGGAAACAAAAGTATTCCTTCCAGCTAGATTATTTACCTTTTTTCGTAGAATCTACCAAGACATCTGCTCTCCTTTTGTTAAAGGGGAGAGTAGTGAGTATTAGATGTTAAGCACTTAAACATGCATCTTAACATTAACGTATTTTTTATACAAGCACCTCAGTTGATGCTCTCACAGGTAGTACATAGGTCACAGTTTGAGAATCGCAGATCCTTTGAATGAGCCCACAAGCAGTGTTTAAGAGTGTAGTCTCAGGCCAGTGCCTGGGTTAAATTTAAATCCTGGCTCTGCCGCTTAGAAATGGTGTAATCTTGGGAAAGTTACTTGACTTCTCGGTCCTTCAGATTCCTAGTCTGTAAAACAGTAGCACCTACCTCGTGGGGTTGATGTGAGGATTAAGAGAGTTGATAATATGTCCCAGTTACCTGTATTTCGTGCAGTAAATCACAACAATTACCTTATTCTCTTTTGCTCTTCTGGAGGTTGACTGGGCTCCGCTAGCTATTTCTTGCTTAGAGTCTTTCATGGCGTTGCAGTCAGATAGTGACTGCGGTTGGACTCATCTTGACACCTTGCTCACTCGCATATTTGGCAGTTGATGCTGGTTGTCAGGTGGGACCTCAGCTGGAGTTGTCGACTGAAACATCTCCATATAGCCTGGGCTTCCTCACATCATGGCGGCTGTGTCCCAAGATGAGTGTGTGTAGAGAGAGACAAGTGAAAACTTTATTGTTGTTATGACCTAGTTTCAGAAGTCACATAGCGTCACTTTTACTGTACTCTTTTGGTCAAGGCAGTCTCAAAGGTTCACTCCAGTTCAGGGGGAGGGAATCTAGACCATCATTCAGTGAAAGGGATGTCAGTGTCACATTGTAAGAAGAATGTGAAAGACAGGATGTATTGTGGTATAGCCATCTTAGGAAAATAGAGTGCACATAAAACACATAGAGCAGTGCCTGGCATGTAGTGAGCACTCAGTTGAGGGCTGCTATTATTATTATTACTATTATTACTGTTGTTTACTGCTATGATTGTAATAGTTACTGAGTCTCTGTACAGTTACACAACCTACTTGAAGACAGATGAATTCGTTAAATCATTCATCAGCTCCATGCTAGGCTCTGGGGATACAGTGGTCAGCAAAACCAGAAATGATGATCTTTGTCTCATAGTATCTCAAGTATCAGAAGGGAGAAAGAGACATTAATTTTAAATATAAAATGGTGAGAGGGACAAGTGAGAAGTGCAGAGAAGTGAGGAGCGCTTGAAAGATTCTGATGAGGAAACTAATTTTGTCTGAGGTTAGGGATGAGGGTCAAGGAAGACCTTGCTGAGGAAAGTAACATTTTGAACCAAGATGAGAAGGAACAGCAGGACTTAAAGAATAAAAGGGAGGGAAACAGCATGTGTAAAGACCGTTATACCGAAAAGAAGATGAAAATAAAAGTATTACTCAATTCCAGCTAGAT
Task1_train_5885
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?
Pathogenic; Inborn genetic diseases
GCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCAGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCTGGCATGGCGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCCGAGATCACGCCGCTGCACTCCAGCCTGGGCGACAGGAGCGCAACTCTGTCTCAAAAAAACAAAAAAATCCCTACCTGTTGGGTACTCTGTTCTCTATCTGGGTGATGGGTTCGATCATACCCTAAACCTCAGCATTAAGCAATACACTTCTGCAGCAAACCTGCACGGGTACCCCCTGATTCTAAGATAAAAGTTGGAAAAAAGAAAAAAAAAAGTTGTGCTTGTTGAGGCCAAAGGAAACGTAGGAGGAAGCCCTTGCCACAGAGGTTAGTTTTTGTTTAATATTTTAGCAAGTGGTTGACTTGACTAGTAGCTCAGTGCTCATTAGAGAGGGGAAGTCTTTCCATTTGTCTTGGTGGTGATAAGACAAAAGACAAGGAGAGTTGATGTCTGTGGAACGGTAAGACATGAAAACAGCACTACCCAGAGTCCCCTCTGTGCCTCTTGGGGGTCGCTTCCTCATGACTAATACCACACCCAGAACCCACTGTGTTAGTTGTTTAGCTTATGAATATCCAAGGCATAGAGTTTCTAGCTGTGACGGGTGTACCCTGTGCATCCTGCTTTTCAATTGTTAATTATTTGTATTTTTCCAAATTTCCCACTTTCTATATTAGACTGTTAGAAAGTTGTTGGCTGGCTTATAGTTTTTTTTCCGCTAAATTGTGTGTGTGTGTATGTTTTTAAATGGGATTTAAATAATTGCTTCTCAGATTCCTCTTTCAGGATGTTGGAGTTGTTTTTACAATTAGATAGTTGAGTACTTTCTTTGCTTCTAGTGTTTTGAAGCATTGAAGACAGGAAATCATTGTTTTTTGGACATTTTCCCATATGGAAAAGAGTGATTATTAGTCTTAATTATCTTCCTTTTCAAAATCTTTTATTTTGGAATAATTTCAGGTTTATGGGACTGTAGCAAGGGTAATACAGAGAGTTCCCACAAATCCCTCACCCATTGTCACCCGTTGTCAGCATCTTACATTAGCAGGGCACCTTTGTCAAGGCTAGGAAACTGACACTGGTACAGTGCTATTACCTCAACTCCAGGCTCGATTCGAATTTCACCACTTTTCCCACTGCTGTCCCTTGTCATGCCCTTTTTCTGTTCCAGGATTTGGTCCAGGTACCACCTTGCATTTGGTTGTCATGTCTCTCCAGTCTCTTCTGGTCTGTGACCATTTCTCAGCCTTTCCTTGTTTCTTATGACCTTGACAGTCTTGACAAGTACTAGTCAGGAGTCCTGTAGAGTGTCTCCCATTATGGGTTTGACTGATGTTTGTCTCATGCTTAGACTGGAGTTCTCCTTTTTTAAGACGAAGAAAGAAGCACCTATCCAGAAAGAGGAGTTTATGCCATTGTGAATGCTACCTTTAGGATTATGTTTGGGATAACCCAGCATTTTTGTAGATTGTTGAACAAACCTGAAAAATAACTAGCAAATGATTCATTGGCCAAACGAGTTCCCTGTCTTGATTATTCTTAAAATACACACACACCTCAGTGACCCTAAGAAGCCATTCATTGAGGAAACCCATTGAACTTTAACTCTGACATGCCCTGGCCTTATGACCTGAGAGCATTTTAACATTCCTAAGAACTGCTTCCCCCCAGAATTCACACTGGGAAACCCTGACCTAAAAGATGGTAAAGTTGACTTGAGCTTCTCAGTCTTTAAGCTCAATACCAGGCAAGCTGGCCCATTCTGGGTGTGAAAAACCTGCTGGATGGGGACTAGGGCATTACGTCCATCTGTAGGGTGTCCCCCATAAAAGTTGTAGGCTCACGACTCATCTTTCTCCTGTGCAGCCAAGAGCCGGGCCATTGCCATTCCCGTGGACCTGGACAGCCAAGTCAACAACCTCTTTCTCAAGTCCCACAGCATTGTGCAGAAAACAGCCATGAACTGGCGGCTCTCAGCCCGCAATGCCGCACGCAGGGACTCTGTTCTGGCAGCTTCCAGAGACTACCGGAATATCATTGAGAGATTGCAGGTAATGCCTGGTGTTGAGAGAAGTGATGCTTAGCCTGGCCTCACGTGATTGCCACACACAGCAGTGCATCCTTGAGCCACAGAGCATCTAAGCTGGGCCGTGGGAAGATGTCGGTGTGCTGAACGAATAGTCAAATGTTATATATGTAGGGCCAGGAGTGGGAAGTTACTTAGGAATAGAAAAGTTCCTGAAAAGTGATGGTCTTTAAAGGTTACTCCTAGATTTGCAGATTTCTTGGTGAAAAATTGGGACTCTGCTCTTATTAGAAGGAAGTATTGAAGTATTACAGAGGATGTTTAGAGTAAGAGCATAAATGTTCCATTTTCCCCATCACTCTGGGGTTATTTAGCCTCTTGAATCAGCAGGTGAACAAGGGTGGTGATACCTGAGAGAAGAATTTTACATCAGAATGAGCCAGATGGAAACAAAAGTATTCCTTCCAGCTAGATTATTTACCTTTTTTCGTAGAATCTACCAAGACATCTGCTCTCCTTTTGTTAAAGGGGAGAGTAGTGAGTATTAGATGTTAAGCACTTAAACATGCATCTTAACATTAACGTATTTTTTATACAAGCACCTCAGTTGATGCTCTCACAGGTAGTACATAGGTCACAGTTTGAGAATCGCAGATCCTTTGAATGAGCCCACAAGCAGTGTTTAAGAGTGTAGTCTCAGGCCAGTGCCTGGGTTAAATTTAAATCCTGGCTCTGCCGCTTAGAAATGGTGTAATCTTGGGAAAGTTACTTGACTTCTCGGTCCTTCAGATTCCTAGTCTGTAAAACAGTAGCACCTACCTCGTGGGGTTGATGTGAGGATTAAGAGAGTTGATAATATGTCCCAGTTACCTGTATTTCGTGCAGTAAATCACAACAATTACCTTATTCTCTTTTGCTCTTCTGGAGGTTGACTGGGCTCCGCTAGCTATTTCTTGCTTAGAGTCTTTCATGGCGTTGCAGTCAGATAGTGACTGCGGTTGGACTCATCTTGACACCTTGCTCACTCGCATATTTGGCAGTTGATGCTGGTTGTCAGGTGGGACCTCAGCTGGAGTTGTCGACTGAAACATCTCCATATAGCCTGGGCTTCCTCACATCATGGCGGCTGTGTCCCAAGATGAGTGTGTGTAGAGAGAGACAAGTGAAAACTTTATTGTTGTTATGACCTAGTTTCAGAAGTCACATAGCGTCACTTTTACTGTACTCTTTTGGTCAAGGCAGTCTCAAAGGTTCACTCCAGTTCAGGGGGAGGGAATCTAGACCATCATTCAGTGAAAGGGATGTCAGTGTCACATTGTAAGAAGAATGTGAAAGACAGGATGTATTGTGGTATAGCCATCTTAGGAAAATAGAGTGCACATAAAACACATAGAGCAGTGCCTGGCATGTAGTGAGCACTCAGTTGAGGGCTGCTATTATTATTATTACTATTATTACTGTTGTTTACTGCTATGATTGTAATAGTTACTGAGTCTCTGTACAGTTACACAACCTACTTGAAGACAGATGAATTCGTTAAATCATTCATCAGCTCCATGCTAGGCTCTGGGGATACAGTGGTCAGCAAAACCAGAAATGATGATCTTTGTCTCATAGTATCTCAAGTATCAGAAGGGAGAAAGAGACATTAATTTTAAATATAAAATGGTGAGAGGGACAAGTGAGAAGTGCAGAGAAGTGAGGAGCGCTTGAAAGATTCTGATGAGGAAACTAATTTTGTCTGAGGTTAGGGATGAGGGTCAAGGAAGACCTTGCTGAGGAAAGTAACATTTTGAACCAAGATGAGAAGGAACAGCAGGACTTAAAGAATAAAAGGGAGGGAAACAGCATGTGTAAAGACCGTTATACCGAAAAGAAGATGAAAATAAAAGTATTACTCAATTCCAGCTAGAT
GCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCAGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCTGGCATGGCGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCCGAGATCACGCCGCTGCACTCCAGCCTGGGCGACAGGAGCGCAACTCTGTCTCAAAAAAACAAAAAAATCCCTACCTGTTGGGTACTCTGTTCTCTATCTGGGTGATGGGTTCGATCATACCCTAAACCTCAGCATTAAGCAATACACTTCTGCAGCAAACCTGCACGGGTACCCCCTGATTCTAAGATAAAAGTTGGAAAAAAGAAAAAAAAAAGTTGTGCTTGTTGAGGCCAAAGGAAACGTAGGAGGAAGCCCTTGCCACAGAGGTTAGTTTTTGTTTAATATTTTAGCAAGTGGTTGACTTGACTAGTAGCTCAGTGCTCATTAGAGAGGGGAAGTCTTTCCATTTGTCTTGGTGGTGATAAGACAAAAGACAAGGAGAGTTGATGTCTGTGGAACGGTAAGACATGAAAACAGCACTACCCAGAGTCCCCTCTGTGCCTCTTGGGGGTCGCTTCCTCATGACTAATACCACACCCAGAACCCACTGTGTTAGTTGTTTAGCTTATGAATATCCAAGGCATAGAGTTTCTAGCTGTGACGGGTGTACCCTGTGCATCCTGCTTTTCAATTGTTAATTATTTGTATTTTTCCAAATTTCCCACTTTCTATATTAGACTGTTAGAAAGTTGTTGGCTGGCTTATAGTTTTTTTTCCGCTAAATTGTGTGTGTGTGTATGTTTTTAAATGGGATTTAAATAATTGCTTCTCAGATTCCTCTTTCAGGATGTTGGAGTTGTTTTTACAATTAGATAGTTGAGTACTTTCTTTGCTTCTAGTGTTTTGAAGCATTGAAGACAGGAAATCATTGTTTTTTGGACATTTTCCCATATGGAAAAGAGTGATTATTAGTCTTAATTATCTTCCTTTTCAAAATCTTTTATTTTGGAATAATTTCAGGTTTATGGGACTGTAGCAAGGGTAATACAGAGAGTTCCCACAAATCCCTCACCCATTGTCACCCGTTGTCAGCATCTTACATTAGCAGGGCACCTTTGTCAAGGCTAGGAAACTGACACTGGTACAGTGCTATTACCTCAACTCCAGGCTCGATTCGAATTTCACCACTTTTCCCACTGCTGTCCCTTGTCATGCCCTTTTTCTGTTCCAGGATTTGGTCCAGGTACCACCTTGCATTTGGTTGTCATGTCTCTCCAGTCTCTTCTGGTCTGTGACCATTTCTCAGCCTTTCCTTGTTTCTTATGACCTTGACAGTCTTGACAAGTACTAGTCAGGAGTCCTGTAGAGTGTCTCCCATTATGGGTTTGACTGATGTTTGTCTCATGCTTAGACTGGAGTTCTCCTTTTTTAAGACGAAGAAAGAAGCACCTATCCAGAAAGAGGAGTTTATGCCATTGTGAATGCTACCTTTAGGATTATGTTTGGGATAACCCAGCATTTTTGTAGATTGTTGAACAAACCTGAAAAATAACTAGCAAATGATTCATTGGCCAAACGAGTTCCCTGTCTTGATTATTCTTAAAATACACACACACCTCAGTGACCCTAAGAAGCCATTCATTGAGGAAACCCATTGAACTTTAACTCTGACATGCCCTGGCCTTATGACCTGAGAGCATTTTAACATTCCTAAGAACTGCTTCCCCCCAGAATTCACACTGGGAAACCCTGACCTAAAAGATGGTAAAGTTGACTTGAGCTTCTCAGTCTTTAAGCTCAATACCAGGCAAGCTGGCCCATTCTGGGTGTGAAAAACCTGCTGGATGGGGACTAGGGCATTACGTCCATCTGTAGGGTGTCCCCCATAAAAGTTGTAGGCTCACGACTCATCTTTCTCCTGTGCAGCCAAGAGCCGGGCCATTGCCATTCCCATGGACCTGGACAGCCAAGTCAACAACCTCTTTCTCAAGTCCCACAGCATTGTGCAGAAAACAGCCATGAACTGGCGGCTCTCAGCCCGCAATGCCGCACGCAGGGACTCTGTTCTGGCAGCTTCCAGAGACTACCGGAATATCATTGAGAGATTGCAGGTAATGCCTGGTGTTGAGAGAAGTGATGCTTAGCCTGGCCTCACGTGATTGCCACACACAGCAGTGCATCCTTGAGCCACAGAGCATCTAAGCTGGGCCGTGGGAAGATGTCGGTGTGCTGAACGAATAGTCAAATGTTATATATGTAGGGCCAGGAGTGGGAAGTTACTTAGGAATAGAAAAGTTCCTGAAAAGTGATGGTCTTTAAAGGTTACTCCTAGATTTGCAGATTTCTTGGTGAAAAATTGGGACTCTGCTCTTATTAGAAGGAAGTATTGAAGTATTACAGAGGATGTTTAGAGTAAGAGCATAAATGTTCCATTTTCCCCATCACTCTGGGGTTATTTAGCCTCTTGAATCAGCAGGTGAACAAGGGTGGTGATACCTGAGAGAAGAATTTTACATCAGAATGAGCCAGATGGAAACAAAAGTATTCCTTCCAGCTAGATTATTTACCTTTTTTCGTAGAATCTACCAAGACATCTGCTCTCCTTTTGTTAAAGGGGAGAGTAGTGAGTATTAGATGTTAAGCACTTAAACATGCATCTTAACATTAACGTATTTTTTATACAAGCACCTCAGTTGATGCTCTCACAGGTAGTACATAGGTCACAGTTTGAGAATCGCAGATCCTTTGAATGAGCCCACAAGCAGTGTTTAAGAGTGTAGTCTCAGGCCAGTGCCTGGGTTAAATTTAAATCCTGGCTCTGCCGCTTAGAAATGGTGTAATCTTGGGAAAGTTACTTGACTTCTCGGTCCTTCAGATTCCTAGTCTGTAAAACAGTAGCACCTACCTCGTGGGGTTGATGTGAGGATTAAGAGAGTTGATAATATGTCCCAGTTACCTGTATTTCGTGCAGTAAATCACAACAATTACCTTATTCTCTTTTGCTCTTCTGGAGGTTGACTGGGCTCCGCTAGCTATTTCTTGCTTAGAGTCTTTCATGGCGTTGCAGTCAGATAGTGACTGCGGTTGGACTCATCTTGACACCTTGCTCACTCGCATATTTGGCAGTTGATGCTGGTTGTCAGGTGGGACCTCAGCTGGAGTTGTCGACTGAAACATCTCCATATAGCCTGGGCTTCCTCACATCATGGCGGCTGTGTCCCAAGATGAGTGTGTGTAGAGAGAGACAAGTGAAAACTTTATTGTTGTTATGACCTAGTTTCAGAAGTCACATAGCGTCACTTTTACTGTACTCTTTTGGTCAAGGCAGTCTCAAAGGTTCACTCCAGTTCAGGGGGAGGGAATCTAGACCATCATTCAGTGAAAGGGATGTCAGTGTCACATTGTAAGAAGAATGTGAAAGACAGGATGTATTGTGGTATAGCCATCTTAGGAAAATAGAGTGCACATAAAACACATAGAGCAGTGCCTGGCATGTAGTGAGCACTCAGTTGAGGGCTGCTATTATTATTATTACTATTATTACTGTTGTTTACTGCTATGATTGTAATAGTTACTGAGTCTCTGTACAGTTACACAACCTACTTGAAGACAGATGAATTCGTTAAATCATTCATCAGCTCCATGCTAGGCTCTGGGGATACAGTGGTCAGCAAAACCAGAAATGATGATCTTTGTCTCATAGTATCTCAAGTATCAGAAGGGAGAAAGAGACATTAATTTTAAATATAAAATGGTGAGAGGGACAAGTGAGAAGTGCAGAGAAGTGAGGAGCGCTTGAAAGATTCTGATGAGGAAACTAATTTTGTCTGAGGTTAGGGATGAGGGTCAAGGAAGACCTTGCTGAGGAAAGTAACATTTTGAACCAAGATGAGAAGGAACAGCAGGACTTAAAGAATAAAAGGGAGGGAAACAGCATGTGTAAAGACCGTTATACCGAAAAGAAGATGAAAATAAAAGTATTACTCAATTCCAGCTAGAT
Task1_train_5886
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?
Pathogenic; not provided
ATGTTTGTATGACTTTATTATGTGAATAATTCATGCTCATTGAAAATAAACAACACTGACAAGTATTTCTATATAGAAGAAAATCAGAATCACCTGTAATCCCACCACCCAGAGAAAACCAGTAGTAATGTTTTAATATTTGATGTTTATCCTTTAGCTAGATATTGATGATGTTTATAAAAATAGGATTATTATTGTTTGACCTTTGTTATGCCCATGTCATAGACATCTTTCCATGTTGTTAAATTGATTTTTTGCGTCATATTTTAAGCTACATGCAGTGGTACCTTGAGTAGCATAAGGGCCACCTTGAAAGAAGGGGTGGTGGGAAAGTTGACTTGTTTTCACTTTGTTTTCTGCATCAGAGGCTAATGTTTCAGGTAACCATTGGGCAATGTCTAATAATTTGAGATGCCAGACGGTACTAAAGTTACTCTAACCTAGCCTACCCGTGCATCAGTGTTTTAGGGCAGAAATCAATGTCCTCACCCTCCTGTGGTCAGCGTCTGCCTGAGCCGTTGACTGAGGCTGTGTTTCCGTTTTAGGACATCGTCTCCGCGCTGGAGGACCGTCTCAGGCCCCTGGTGCAGGCAGAGTTATCTGTGCTCGTGGATGTTCTCCACAGACCCGAGCTGCTTTTCCCAGAGAACACAGACGCCAGAAGGAAATGTGAAAGTGGCGGTTTCATTTGCAAGTAAGCGGCCTCTCTCTCTGGGGTGTTCATTTGCCAGAACCTTGATGACCTCACAAAGCTTTTGTTCCCGAAGAAGGAGACGTTGTCCTGTTTTTTAACTTTGATGAATGCAAGGTCATGTGCTAAAGTCCTGTTCTGACCTCCCCAAAGTAAGTTTGTCTATTAAATCCTGCTTACTGACACTTTTTTGTTTTGTTTTGTTTTGCTTTGTTTTTTGGTGAGAAGTTCTTATTTTCACTGCATGCCCATTCATTCATTCATTACAGTGCACCCACCGTGTGCTGTGGTACAGACATAAAAAAGCCATGATCCCTCAGCCCTCAGAAATCTCAGATCTATCGTGACCTCACCATCTTTTCCTAATAATTTTGTAATTTCTTAGTTTATGCCTTGTGCGTAATCTGTAAGCAACAAGCAGACCCATGGTTAGAAATCTCCATTAGATTTTTGCCCCAAGGCCGGACACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGGGGCTGGTGAATCACCTGAGGTCAGGGGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTATCTTGACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCTCCTGTAATCCCAGCTACTCTGTGGCTGAGGCAGGGGAATCACTTGAACCCAGGAAGCAGAGGCTACAGTGAGCCAAGATCGCGCTACTGCACTCCAGCCTGGGTGGCAGAACGAGACCTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGATTTTTACCCTAAGATTAGTTGTTTGTTTAGCTTGGGGCTGGACTCTGCATGTGAGTTTCTTACTTTTCTGGGCCCCTCTAAGGACAAGCTTGTGCATAAGGGAACTGTGTGTATTGGCCTCAACCATCATCCTCATGAGTTGTTTTTGTTTTACAGTGTTGGCATATTTGACCCATTTTACTGGCAATTCTCAGTGGATAAATAGCCACGCTTTATAAACGAGCAGGTCTGAGTGGACCTCTGTCTCGGTTCTCCTCTCCATATAATCTCTCCATTGTATGTGGCTGACTCCTGCCCAGTGAGCCTGTTTGCTGTGATTTACCAGCAGGTGTCACTATTGAGACACAGTTGCTAACTGGCTGTTCTCAGTGCAGGGAATGCCCTGAAGTATCTTTAACCTGAGAGCTCTTAATAAATATTTGTTCATTAACGGACTAGTTAAAATAAATTGCTTGTGAAGTCTTTTTAATTTAAAATTAGCTTCAAGGAAGTAATCCGTGGTTTTCCCCCCATTCAGGTTAATAAAGCATACAAAACAGCTGCTAGAAGAAAATGAAGAGAAGCTCTGCATTAAGGTCCTACAGACCCTGAGGGAAATGATGACCAAAGATAGAGGCTATGGAGAAAAGGTACTGCATTTTATTTTCATGGTCAAACCAGGTTTTACTATGAAACTGAAGGGAGGGACCTTTCAAAACCCACCTTAGCTCAGGCATTACTGACTGAGGGGCTAGCTTTTTTTAAAAGAAAGAAAGAAAGAAAGAAAAAGCTGTTTATCCTGCCGTTAAAGGGAGCTAAATCATATGACTGTCTTTTTTAAAAGTCAAATATACTTAGTCGTCTCTTATAGGCTGATTGCCACATAATCTAATGTCAGAGAAGTGGTAATAACAAGATTTTCCATCTATTTAAATTCCCAGTGAGGAGCAAATGCCTCTTTTGTATCAAAGTATGCGTTTCTGATTTTTAGGTTTCAGCCAAGCATACCTGTGGGTTTACTTGCCTCGTTCAGATGAGCTGTTGCGCAATCCTTTCAGTGCATCAAGAAACGCCCTCCACTTCTAACTGCAATTAAGGCAGGCATACACGTCACCACTTCTGAGGGAGATTGGGAAATGGACAGTCCCGTGACCTGATTGTTCTTAGTATATGCAGTGAACAAGGATATACCAGATCCATTCCTTACACCTCTGATGTTGGGTAGAGCAGGACAGAAACAATGTCATTCCCTTTCCTTTCAGCCCCCAGCAACAAATGATGGGCGTGAATTGAAATCTCACTCATTTTCATTTGAAGGTAATAATGTTCAGTAACGGTCAGCTAGCTACATTTAGCAACAATTTCTGAGTAGGTGAATATGCTGATATCACTGACTTATCAAAATACCCAGTAAGTCATTTTTCAGCTCTAGGAAGAAGCCTTGATAATTAAATCAGCCTGCCTTGTCAAAATCGATGGTGGCAACCAGATTGTCACAAGTATAAATGTCTGCAGGAATGTTGCTTTCTAACCTATCTGTCATTAATATTAGAGCAATGTTACTAGTGAGACTCCTTGGATAAGAAAACAGAAAACGGATTTTGCAGTTTCTTAGTTTATACCACGGGGCATAATCTGTAAGCAACAAGAGTTCCATGACTAGAAATGTCCATTACATTTTTTAGAAACTAATTAGAACATAGGTTTCTGTAACTCAGTAGGAATTTTGCAGAGAAAACCTGCCAGACAAGAGTTTATAAATATAAATGATGGAAGTGAAGACCCCTGGCAAGGTGAGAAGTGCTGGGATGGCCTGTTCATACCTGTATAGGCACCTAGTAGATCTCTTAAAAACAAGAAAAGAAAAAAGGTGGGGGGTACGGGGGAAGGCTGATGGCAGAGAATACACTTACCAGACAAATAAATATTAACCATTTATTTCACAAGATCTTCATTTCTCTTAAAGTGAGTTTTCAGAAACATTTATAAAATATGAATCTAGTTACAGAAACTTGCTCTCCATAAAAAAGGTTAAATCCACCAAAGCTGAGTGAATATTTTTGCATCCATGGGCATAAAACCTGATTTTTCAAATCTGGAGACCACAATTTTCTCTTATTTGGAATATCTATTTCTTTCCATAACCGAGGTATTTAAAGTAAACTTCGGTGCCTCTATTCTAGTGACTTACAAGTTGTGATTATACATGCAGTTCCCTGCAGTTGTCTTTTTATAACCTGGAACGTAGAAGCATTGTCCTGGAGTTTCCTGAGTCTCTATTGCCTGGCGGACAAGTATGTCAGGGTCTTTGAGGCTATGTGGAAGGTGTGCTGCCCTGCTCCCTGCCCCTACCCATTAGTGCCAACTGGGAGAGCATCCCAGACCCCAGGGGATGCCGCATGAGAAATGTCGTAATGCATGTTATAAAGCTCATGGAGAAAGAAAGGGCATAGGGTTGAGAGGACCCTCAAAGGAGATCACTTGGAAAGAGTAAATTATATCACAGTTTTGTAGAGGTTCCTGGGGTCTAGCTTAAATCCTTTTCAGCTGGTGAAGAAATCAGTCACACCTAAGCAGAGAGGCTTGGAGAAGAGATGGCCTTTCTTTCCAGTCTGGTTAGGGCTGTCATTCCCATCCATGAATGTGAACAAACTATA
ATGTTTGTATGACTTTATTATGTGAATAATTCATGCTCATTGAAAATAAACAACACTGACAAGTATTTCTATATAGAAGAAAATCAGAATCACCTGTAATCCCACCACCCAGAGAAAACCAGTAGTAATGTTTTAATATTTGATGTTTATCCTTTAGCTAGATATTGATGATGTTTATAAAAATAGGATTATTATTGTTTGACCTTTGTTATGCCCATGTCATAGACATCTTTCCATGTTGTTAAATTGATTTTTTGCGTCATATTTTAAGCTACATGCAGTGGTACCTTGAGTAGCATAAGGGCCACCTTGAAAGAAGGGGTGGTGGGAAAGTTGACTTGTTTTCACTTTGTTTTCTGCATCAGAGGCTAATGTTTCAGGTAACCATTGGGCAATGTCTAATAATTTGAGATGCCAGACGGTACTAAAGTTACTCTAACCTAGCCTACCCGTGCATCAGTGTTTTAGGGCAGAAATCAATGTCCTCACCCTCCTGTGGTCAGCGTCTGCCTGAGCCGTTGACTGAGGCTGTGTTTCCGTTTTAGGACATCGTCTCCGCGCTGGAGGACCGTCTCAGGCCCCTGGTGCAGGCAGAGTTATCTGTGCTCGTGGATGTTCTCCACAGACCCGAGCTGCTTTTCCCAGAGAACACAGACGCCAGAAGGAAATGTGAAAGTGGCGGTTTCATTTGCAAGTAAGCGGCCTCTCTCTCTGGGGTGTTCATTTGCCAGAACCTTGATGACCTCACAAAGCTTTTGTTCCCGAAGAAGGAGACGTTGTCCTGTTTTTTAACTTTGATGAATGCAAGGTCATGTGCTAAAGTCCTGTTCTGACCTCCCCAAAGTAAGTTTGTCTATTAAATCCTGCTTACTGACACTTTTTTGTTTTGTTTTGTTTTGCTTTGTTTTTTGGTGAGAAGTTCTTATTTTCACTGCATGCCCATTCATTCATTCATTACAGTGCACCCACCGTGTGCTGTGGTACAGACATAAAAAAGCCATGATCCCTCAGCCCTCAGAAATCTCAGATCTATCGTGACCTCACCATCTTTTCCTAATAATTTTGTAATTTCTTAGTTTATGCCTTGTGCGTAATCTGTAAGCAACAAGCAGACCCATGGTTAGAAATCTCCATTAGATTTTTGCCCCAAGGCCGGACACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGGGGCTGGTGAATCACCTGAGGTCAGGGGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTATCTTGACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCTCCTGTAATCCCAGCTACTCTGTGGCTGAGGCAGGGGAATCACTTGAACCCAGGAAGCAGAGGCTACAGTGAGCCAAGATCGCGCTACTGCACTCCAGCCTGGGTGGCAGAACGAGACCTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGATTTTTACCCTAAGATTAGTTGTTTGTTTAGCTTGGGGCTGGACTCTGCATGTGAGTTTCTTACTTTTCTGGGCCCCTCTAAGGACAAGCTTGTGCATAAGGGAACTGTGTGTATTGGCCTCAACCATCATCCTCATGAGTTGTTTTTGTTTTACAGTGTTGGCATATTTGACCCATTTTACTGGCAATTCTCAGTGGATAAATAGCCACGCTTTATAAACGAGCAGGTCTGAGTGGACCTCTGTCTCGGTTCTCCTCTCCATATAATCTCTCCATTGTATGTGGCTGACTCCTGCCCAGTGAGCCTGTTTGCTGTGATTTACCAGCAGGTGTCACTATTGAGACACAGTTGCTAACTGGCTGTTCTCAGTGCAGGGAATGCCCTGAAGTATCTTTAACCTGAGAGCTCTTAATAAATATTTGTTCATTAACGGACTAGTTAAAATAAATTGCTTGTGAAGTCTTTTTAATTTAAAATTAGCTTCAAGGAAGTAATCCGTGGTTTTCCCCCCATTCAGGTTAATAAAGCATACAAAACAGCTGCTAGAAGAAAATGAAGAGAAGCTCTGCATTAAGGTCCTACAGACCCCGAGGGAAATGATGACCAAAGATAGAGGCTATGGAGAAAAGGTACTGCATTTTATTTTCATGGTCAAACCAGGTTTTACTATGAAACTGAAGGGAGGGACCTTTCAAAACCCACCTTAGCTCAGGCATTACTGACTGAGGGGCTAGCTTTTTTTAAAAGAAAGAAAGAAAGAAAGAAAAAGCTGTTTATCCTGCCGTTAAAGGGAGCTAAATCATATGACTGTCTTTTTTAAAAGTCAAATATACTTAGTCGTCTCTTATAGGCTGATTGCCACATAATCTAATGTCAGAGAAGTGGTAATAACAAGATTTTCCATCTATTTAAATTCCCAGTGAGGAGCAAATGCCTCTTTTGTATCAAAGTATGCGTTTCTGATTTTTAGGTTTCAGCCAAGCATACCTGTGGGTTTACTTGCCTCGTTCAGATGAGCTGTTGCGCAATCCTTTCAGTGCATCAAGAAACGCCCTCCACTTCTAACTGCAATTAAGGCAGGCATACACGTCACCACTTCTGAGGGAGATTGGGAAATGGACAGTCCCGTGACCTGATTGTTCTTAGTATATGCAGTGAACAAGGATATACCAGATCCATTCCTTACACCTCTGATGTTGGGTAGAGCAGGACAGAAACAATGTCATTCCCTTTCCTTTCAGCCCCCAGCAACAAATGATGGGCGTGAATTGAAATCTCACTCATTTTCATTTGAAGGTAATAATGTTCAGTAACGGTCAGCTAGCTACATTTAGCAACAATTTCTGAGTAGGTGAATATGCTGATATCACTGACTTATCAAAATACCCAGTAAGTCATTTTTCAGCTCTAGGAAGAAGCCTTGATAATTAAATCAGCCTGCCTTGTCAAAATCGATGGTGGCAACCAGATTGTCACAAGTATAAATGTCTGCAGGAATGTTGCTTTCTAACCTATCTGTCATTAATATTAGAGCAATGTTACTAGTGAGACTCCTTGGATAAGAAAACAGAAAACGGATTTTGCAGTTTCTTAGTTTATACCACGGGGCATAATCTGTAAGCAACAAGAGTTCCATGACTAGAAATGTCCATTACATTTTTTAGAAACTAATTAGAACATAGGTTTCTGTAACTCAGTAGGAATTTTGCAGAGAAAACCTGCCAGACAAGAGTTTATAAATATAAATGATGGAAGTGAAGACCCCTGGCAAGGTGAGAAGTGCTGGGATGGCCTGTTCATACCTGTATAGGCACCTAGTAGATCTCTTAAAAACAAGAAAAGAAAAAAGGTGGGGGGTACGGGGGAAGGCTGATGGCAGAGAATACACTTACCAGACAAATAAATATTAACCATTTATTTCACAAGATCTTCATTTCTCTTAAAGTGAGTTTTCAGAAACATTTATAAAATATGAATCTAGTTACAGAAACTTGCTCTCCATAAAAAAGGTTAAATCCACCAAAGCTGAGTGAATATTTTTGCATCCATGGGCATAAAACCTGATTTTTCAAATCTGGAGACCACAATTTTCTCTTATTTGGAATATCTATTTCTTTCCATAACCGAGGTATTTAAAGTAAACTTCGGTGCCTCTATTCTAGTGACTTACAAGTTGTGATTATACATGCAGTTCCCTGCAGTTGTCTTTTTATAACCTGGAACGTAGAAGCATTGTCCTGGAGTTTCCTGAGTCTCTATTGCCTGGCGGACAAGTATGTCAGGGTCTTTGAGGCTATGTGGAAGGTGTGCTGCCCTGCTCCCTGCCCCTACCCATTAGTGCCAACTGGGAGAGCATCCCAGACCCCAGGGGATGCCGCATGAGAAATGTCGTAATGCATGTTATAAAGCTCATGGAGAAAGAAAGGGCATAGGGTTGAGAGGACCCTCAAAGGAGATCACTTGGAAAGAGTAAATTATATCACAGTTTTGTAGAGGTTCCTGGGGTCTAGCTTAAATCCTTTTCAGCTGGTGAAGAAATCAGTCACACCTAAGCAGAGAGGCTTGGAGAAGAGATGGCCTTTCTTTCCAGTCTGGTTAGGGCTGTCATTCCCATCCATGAATGTGAACAAACTATA
Task1_train_5887
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.
Pathogenic; Spinocerebellar ataxia type 29
TCTGTGATAGCTGCATGTTTCCTCCTAACAGGTTGAAATGCTCACAACAGATGAATTTGTGTTGCAGGTGTATTTTTTAGCAACTTGTTTTGTCTTTGGTCTACCATCAAATTGATGCCTAAACATATTTTCCTGCAAACTAGCATTTCCCTGCAACTAGATGGTGGCTAAGCCTTTTGCTCCTCCTTCCCATGCAGTGACCATCTTGGTGATGGTTGAATGATTTGAGGGATTTGATTTTATTGCACTTCGTCCCGTGGTTGTTAGGACTCTTGTCTTTCCGTAAAATAATGAGGATATTGGCACCCAGGATAGTGAAAGCTGCCATTTATTATACATTTACTGAATGCCAGGGGCTTTCCTAAGTGCATTGCATTCTTTGTCTCATTTTCTCCTCCCAGCTACTCATTATATGATAGGTACAGTCTATCCCAGTTCCACAGAGGAAATGGAAGCTTGTTAGTGGCTGGTCTGTAATTTCAGCCTGGTATATCTAATTCTAATGCCCATGCTGTGTACATCCACAAACTCCTATGGGAGTTTACAAAAAAACATCCCTGTACAGAAGTGCTTACTTTAAATCAGTTTAAGCACAATTACAGGTAAAAGATACAAAAACATGGAACTCAAAGGTGGGTCTTACCTAGTTTGTGTTTTTAGGCAGTGCTCAAAGCACAGATGTGAGTTGCCTGATTTCCTGTCTTATGGTGATGACTGTGGGGCAGCTTCAGATCCTTGGTGGGTTCCATGTATAGCACAGAAATACTCAGTGTACGCTTAATTTGTCCTAGCACATGCTAAGGAGGAAGCCTGGACTTCTCACTAAATGAAAACTGGAAGCATAGCTGCCCAGTTCATGGAGCTATGCTGGCTTCAGTGAAGATGCAGTTCTCAAGGCATCCTAGAGATGAGAACTTGGCCTTTCAAATCCAAAAATCAATGCAGAGGTTCTTCACATAATCTCTCAAAACCATTCTCTTTACTTTCTGTAGTGAGGTCATTTAACAATTATGTGAAGCCCTTGGGGAGGCATCATGACAGGGATTTGGAAATGCAAGACAGACTCTGCTCTGAGAAGCTGTAGCAGAGAGAATGTGCAACCCAATTTCTACCTTGTGCTATAGATATAAGGACAAGTCAAGGACAAGCAGCATAAAGGAGGTGACATTGGAATTGAGTTCTGCACGAAAGGACAGATAGACAATTTTCTGCCTTTTGAAGCTGATCAGCCCATTTCTCCATGTGCGTTCATGGTTTAGTTATTGCCAATAGTAATACAAGGCAAGTCCTTAAATATGTACCTCCCAAACACAGTCAGAATCCATTCTAAATGGCATAGGTCCTCTCTTCTTAAGTATATTCATCTCCCCCATCCCCAGCTCTTGGCTCCACGCCAAGCAGTGAGCAAACATTTGTTGAATGAATAAACAGATAAATTATGTAAAAGAGTAAGTTGGGGGTTAGAGTAGGCTTGTTAAAAGGAGAGCTAAAGTGATCATTATAGGCTGAGCTTCCTTGAGAGTGTTCTAAGAAGTGTTTGACTTTGGTTTGTTTCTGAAACCAGTTCTGAACTCTGCCACAAGTAATTGTGTTTTAATGTAAGGGAGAGTCTTTGCTGGCTGGCTTTAGGTCCCTTGCTGGAAATGTATCATTCTTTTTTCATCTTACCTGTCTGAATTCAAACACCATCTCTGCTGCTGACAAGCTGGGTGTCCTTAGGGAAAGCACCTTCATCGCTCTGTGTTAATAATCAGTATTTTCCTTGTGGGATTAAAAGGGTTAAAAGAGATGAACATGGGTAAAGCATTTAGTGCATAAAGTGTTGGTGCGTAGTAAGTATGCAGCAAACATTAGCTGTTCTGATTGTGCTTAGTAAAAACAATATTCCATCTTCTTAGGGGGAGGTTCCGGATCCAGCTCTATGAGCAGGGGTGAGATGAGTCTGGCCGAGGTTCAGTGTCACCTTGACAAGGAGGGGGCTTCCAATCTAGTTATCGACCTCATCATGAACGCATCCAGTGACCGAGTGTTCCATGAAAGCATTCTCCTGGCCATTGCCCTTCTGGAAGGAGGCAACACCACCATCCAGGTAGGAAGGCAGCTTGGCTACTGGTATGGCATCCCTGCTGAGCAGGAGGAGAGTCTGTTCTGGGAGCCAGATGTCTGGGTGGTACCAAGCCTTGTTTGAGAGACAGCTCATTCTGAGGGCACAAAATTCTGTTTTGAAAAATGAGTTCTGCTAGTATCCTGCTGTGATCATTTGGTCATAAATCAGACTTGGTTCCAGAACATGAGTTACATTTGAAAACTGATAAAACACTGAGAATACGCAAAGGAAACTGGCCTAAGATCTGGCACATAGTGGGCACTCCATAAATGTTTGTTGAATAAGTAAATGATTGCATGAAGTTTATTTACAGTTTTTATCCAAGATTGTAGGGGATCTCATCACAAGATGACCAAAGAGTTTGAACTGTGTGTGCTATTTAGAAGATTTAACTTTTATGTATCTATAGATACCACAGCTGTTGCTTCTGATAAATTTACCTACCTTTTAACTGAAAGTTTAATAAAGCCAAATCAATTTGAAATACTAGAGATACCAGGCTATGTTAGTCAGAAATGAATAGATGACTTTTTGAAAGGTAGGTATGATATATATTTAAAACTAATAATAAAAACTCAAATTCTATTTCTAGTTCACTTTTTATAGATGTCCTTAAAAAACAATTTTCATGATTTTTTCTTCCACAACAGTCATCTTAGAACATGAATTTTAATAATACATAAATAACATAACTTTTATATATGATCCCTTTAAATATTTTTAATACCTCCTTTATGCACTCTTCCTTCTTTGTTAGCTCTCTGAATAAGAGTTTTTTTTTTGGACGTGTATCTATGTACAGACTCGTGTACACATACACACACACATATGTTTTGATAAAAGCTTTATTGAGATATAATCCACATACTGTAAAATTCACCCTGATGTATATATTTGACCTGACATATTCTTGGCCTTGAACTGAAATTCGGAGTCTCGGTTAATGAAGTCTTGGTTCTTTGTGCAACTTTGTAAAGGGCGTTTCTTCCTGTGAGTCAGTGTGCCCCCGGCCAGGGTGCCTGGCTTGGCAGGTGCAGCACAGGTGAGATTTCAGTCCCTGCCTGCTCCTCCAGCCAGCACCCTTGTGCCTTGGCACAACCTGTGCAGCCAACTGCGGTGGCCCTTTTCTTTCGCCTTCCAATCCCCGCTTCCCCCAACGTACACTTTTGAAGTTCATTGTCACGTGTTGCACCAGGTTGGGATTTGGGACAATGAGTGAGGCACCTGGGCCAGTGGCAAGGCCCACTGCTTGTCTAAGTTGTCACGTGGGCACGAGTCGTACACGTTGGGATTGCTTTTTATTTTGTCATGTGTGTGTGGGTGGGTCCTGCAGTCCTTCTCATCAATGGAATGTTGCCCAGCCACTGCTGTGTTCTGGGCTCCTGTGTTGGGAGGAAGCAGAGCTGAAATGCTCCTTGTCTTAGAACCACATGATTTCCTGTGATTAGAGCAGTTGAACTGAATAGTCATTGAGCCCTTTCTGCGTATGTGCTGCTATACCAGGGGCGATGATGGGGCAGTGGTTTCCAGACATGGGAGCCAGTTCGTCTGTGAGGATTTTCTCCAGGCATAGTCAAGTGTGGAAAATGAGGACAATGTGGTGAACTTTTCATAAACCAATGGATTCAGGTTGAAGACCTGGCCATTTTTTTCTGAGATTATATCTCTCCAATCTTTATCCTTAGCCACAGTGTCTTCTTTAATGAAATGGTGTTGATTATGGATGATAGATTTTTTTTTTCTGTTGGCCAAATTAGAAGTTGGAAACCCTAGGTTGTTATTCCTTCCCTTCCCCAAATTTCAAAGCTTTACCAGTTTGAGAAATCCCAGAATCTCAGTCCTCAAGAAATTGAACCTCTAACAAGGATACGTGGATGTGCACATACGATGCTATGTCTCAAGGATGACATTTAGTGCCCTCCAAGAAGTAGAAGTGATGCCGGGGAACCACCAAGGAAGAAGGACCAGCATCTCTCTGGGGAGCCTGCA
TCTGTGATAGCTGCATGTTTCCTCCTAACAGGTTGAAATGCTCACAACAGATGAATTTGTGTTGCAGGTGTATTTTTTAGCAACTTGTTTTGTCTTTGGTCTACCATCAAATTGATGCCTAAACATATTTTCCTGCAAACTAGCATTTCCCTGCAACTAGATGGTGGCTAAGCCTTTTGCTCCTCCTTCCCATGCAGTGACCATCTTGGTGATGGTTGAATGATTTGAGGGATTTGATTTTATTGCACTTCGTCCCGTGGTTGTTAGGACTCTTGTCTTTCCGTAAAATAATGAGGATATTGGCACCCAGGATAGTGAAAGCTGCCATTTATTATACATTTACTGAATGCCAGGGGCTTTCCTAAGTGCATTGCATTCTTTGTCTCATTTTCTCCTCCCAGCTACTCATTATATGATAGGTACAGTCTATCCCAGTTCCACAGAGGAAATGGAAGCTTGTTAGTGGCTGGTCTGTAATTTCAGCCTGGTATATCTAATTCTAATGCCCATGCTGTGTACATCCACAAACTCCTATGGGAGTTTACAAAAAAACATCCCTGTACAGAAGTGCTTACTTTAAATCAGTTTAAGCACAATTACAGGTAAAAGATACAAAAACATGGAACTCAAAGGTGGGTCTTACCTAGTTTGTGTTTTTAGGCAGTGCTCAAAGCACAGATGTGAGTTGCCTGATTTCCTGTCTTATGGTGATGACTGTGGGGCAGCTTCAGATCCTTGGTGGGTTCCATGTATAGCACAGAAATACTCAGTGTACGCTTAATTTGTCCTAGCACATGCTAAGGAGGAAGCCTGGACTTCTCACTAAATGAAAACTGGAAGCATAGCTGCCCAGTTCATGGAGCTATGCTGGCTTCAGTGAAGATGCAGTTCTCAAGGCATCCTAGAGATGAGAACTTGGCCTTTCAAATCCAAAAATCAATGCAGAGGTTCTTCACATAATCTCTCAAAACCATTCTCTTTACTTTCTGTAGTGAGGTCATTTAACAATTATGTGAAGCCCTTGGGGAGGCATCATGACAGGGATTTGGAAATGCAAGACAGACTCTGCTCTGAGAAGCTGTAGCAGAGAGAATGTGCAACCCAATTTCTACCTTGTGCTATAGATATAAGGACAAGTCAAGGACAAGCAGCATAAAGGAGGTGACATTGGAATTGAGTTCTGCACGAAAGGACAGATAGACAATTTTCTGCCTTTTGAAGCTGATCAGCCCATTTCTCCATGTGCGTTCATGGTTTAGTTATTGCCAATAGTAATACAAGGCAAGTCCTTAAATATGTACCTCCCAAACACAGTCAGAATCCATTCTAAATGGCATAGGTCCTCTCTTCTTAAGTATATTCATCTCCCCCATCCCCAGCTCTTGGCTCCACGCCAAGCAGTGAGCAAACATTTGTTGAATGAATAAACAGATAAATTATGTAAAAGAGTAAGTTGGGGGTTAGAGTAGGCTTGTTAAAAGGAGAGCTAAAGTGATCATTATAGGCTGAGCTTCCTTGAGAGTGTTCTAAGAAGTGTTTGACTTTGGTTTGTTTCTGAAACCAGTTCTGAACTCTGCCACAAGTAATTGTGTTTTAATGTAAGGGAGAGTCTTTGCTGGCTGGCTTTAGGTCCCTTGCTGGAAATGTATCATTCTTTTTTCATCTTACCTGTCTGAATTCAAACACCATCTCTGCTGCTGACAAGCTGGGTGTCCTTAGGGAAAGCACCTTCATCGCTCTGTGTTAATAATCAGTATTTTCCTTGTGGGATTAAAAGGGTTAAAAGAGATGAACATGGGTAAAGCATTTAGTGCATAAAGTGTTGGTGCGTAGTAAGTATGCAGCAAACATTAGCTGTTCTGATTGTGCTTAGTAAAAACAATATTCCATCTTCTTAGGGGGAGGTTCCGGATCCAGCTCTATGAGCAGGGGTGAGATGAGTCTGGCCGAGGTTCAGTGTCACCTTGACAAGGAGGGGGCTTCCAATCTAGTTATCGACCTCATCATGAACGCATCCAGTGACCGAGTGTTCCATGAAAGCATTCTCCCGGCCATTGCCCTTCTGGAAGGAGGCAACACCACCATCCAGGTAGGAAGGCAGCTTGGCTACTGGTATGGCATCCCTGCTGAGCAGGAGGAGAGTCTGTTCTGGGAGCCAGATGTCTGGGTGGTACCAAGCCTTGTTTGAGAGACAGCTCATTCTGAGGGCACAAAATTCTGTTTTGAAAAATGAGTTCTGCTAGTATCCTGCTGTGATCATTTGGTCATAAATCAGACTTGGTTCCAGAACATGAGTTACATTTGAAAACTGATAAAACACTGAGAATACGCAAAGGAAACTGGCCTAAGATCTGGCACATAGTGGGCACTCCATAAATGTTTGTTGAATAAGTAAATGATTGCATGAAGTTTATTTACAGTTTTTATCCAAGATTGTAGGGGATCTCATCACAAGATGACCAAAGAGTTTGAACTGTGTGTGCTATTTAGAAGATTTAACTTTTATGTATCTATAGATACCACAGCTGTTGCTTCTGATAAATTTACCTACCTTTTAACTGAAAGTTTAATAAAGCCAAATCAATTTGAAATACTAGAGATACCAGGCTATGTTAGTCAGAAATGAATAGATGACTTTTTGAAAGGTAGGTATGATATATATTTAAAACTAATAATAAAAACTCAAATTCTATTTCTAGTTCACTTTTTATAGATGTCCTTAAAAAACAATTTTCATGATTTTTTCTTCCACAACAGTCATCTTAGAACATGAATTTTAATAATACATAAATAACATAACTTTTATATATGATCCCTTTAAATATTTTTAATACCTCCTTTATGCACTCTTCCTTCTTTGTTAGCTCTCTGAATAAGAGTTTTTTTTTTGGACGTGTATCTATGTACAGACTCGTGTACACATACACACACACATATGTTTTGATAAAAGCTTTATTGAGATATAATCCACATACTGTAAAATTCACCCTGATGTATATATTTGACCTGACATATTCTTGGCCTTGAACTGAAATTCGGAGTCTCGGTTAATGAAGTCTTGGTTCTTTGTGCAACTTTGTAAAGGGCGTTTCTTCCTGTGAGTCAGTGTGCCCCCGGCCAGGGTGCCTGGCTTGGCAGGTGCAGCACAGGTGAGATTTCAGTCCCTGCCTGCTCCTCCAGCCAGCACCCTTGTGCCTTGGCACAACCTGTGCAGCCAACTGCGGTGGCCCTTTTCTTTCGCCTTCCAATCCCCGCTTCCCCCAACGTACACTTTTGAAGTTCATTGTCACGTGTTGCACCAGGTTGGGATTTGGGACAATGAGTGAGGCACCTGGGCCAGTGGCAAGGCCCACTGCTTGTCTAAGTTGTCACGTGGGCACGAGTCGTACACGTTGGGATTGCTTTTTATTTTGTCATGTGTGTGTGGGTGGGTCCTGCAGTCCTTCTCATCAATGGAATGTTGCCCAGCCACTGCTGTGTTCTGGGCTCCTGTGTTGGGAGGAAGCAGAGCTGAAATGCTCCTTGTCTTAGAACCACATGATTTCCTGTGATTAGAGCAGTTGAACTGAATAGTCATTGAGCCCTTTCTGCGTATGTGCTGCTATACCAGGGGCGATGATGGGGCAGTGGTTTCCAGACATGGGAGCCAGTTCGTCTGTGAGGATTTTCTCCAGGCATAGTCAAGTGTGGAAAATGAGGACAATGTGGTGAACTTTTCATAAACCAATGGATTCAGGTTGAAGACCTGGCCATTTTTTTCTGAGATTATATCTCTCCAATCTTTATCCTTAGCCACAGTGTCTTCTTTAATGAAATGGTGTTGATTATGGATGATAGATTTTTTTTTTCTGTTGGCCAAATTAGAAGTTGGAAACCCTAGGTTGTTATTCCTTCCCTTCCCCAAATTTCAAAGCTTTACCAGTTTGAGAAATCCCAGAATCTCAGTCCTCAAGAAATTGAACCTCTAACAAGGATACGTGGATGTGCACATACGATGCTATGTCTCAAGGATGACATTTAGTGCCCTCCAAGAAGTAGAAGTGATGCCGGGGAACCACCAAGGAAGAAGGACCAGCATCTCTCTGGGGAGCCTGCA
Task1_train_5888
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.
Pathogenic; Gillespie syndrome
CAACCTTTCTCTTCCACGTAAGGTATCTCATGAGGGGATAGGAGCTTCTGAACTGTTAGGTCACACAGAATGAAGATTCCTTGCTCCAAGCTAAGAAGTGAATCCCAACAGCATCGAGTACTAAATACCTTGGTTCTGAAAGTCACAAAGAGAGAAACAGTGGAAACGCCATTCCCTCTCTGGTTTCTGATTTTTCCCCATTTGAGGGAAAAGGGCCGGTTGAAGAATAGTACAACTAAGCCTATCTAGGACCAAAAAAAAAAAACCCAAAAAAACAAACATGTATTTTTACTTAATCAAGGAAATACCTTTTTCTCTTTTGTCACTGATTTAGCAGAAGGGTGGTTAATAATGTTGGTTTAAAATAAGGAAAATTACACAAACCAAAAATGTGCCTGCGGGCCTCTGCTGAGTTTCTCTGTATTGTGTACAAATGCGGGACTGCAGGTGACTGATGTGGAAGCCCCACTGACATTTGGACTCTCTATTACTCAAACAGCTTAACGGAATGAAAATCGTGACTTCTAGGTGCTAAACCTGCAGCATTTCCAAGCTGGCCTTTTTTGGATATTTGAGAAATTGATATACCATTCCTGATGTTGACTTCTAAAGTATACCCAGAAAACCCTCCCTTCTATGTAGGGGTTCCATAGGTTCTCTGAGAATCCCATGATTCAGTTTTAACAATTGAGCTTGCAGGCATCAGGTTTCTAAAGTATATTTCAAAACATGTTAGCCTTTCTGGACACATTTCCTTTTTAACTGTTCCCATGTCAGGGCATGTTGAGATTTGTCCTCTATCTGCCCATCCGCAGCAGCGAGCACTTCATCATTATCATGAAAGAGCCTAGAACTACAGGGTTTTGGCTGAAAGGTTGAGCTGTATTTATTGCATGAAGGATGTCATAGGAAAGGTCATTAGGAAAGATGGGAACACAGAAACCTGTGGGAATGGCAGTTATTTTTTCTTTACTATTTAGAACTGAGAGTCCACACTAACAGTCGATTTGGGTGTGTGGTTTAAATGGACTTTTTTTCTGCTATTTTTAATTCCTTTTGACAAATTGTGTTTTAGAGTGAATTTTAACAGATTCAACCTTGTGTACCTGGCCACCATTTATCAGAAAGTCCGAAATAAACAGAAGTTCATGTGCTCCTGGTCAGCATTTGAGTGACTTTTTCAACTAATCCAGTGATCTATGGATGATGATAGAAATTTGTGCCCTGCGATAGCATGATACCCTGACTCAACTGCTGTGACCTAAACTAGGGGAAGAAATAAGACCACTCTCACTGTCCAAAAAAAGAAAAAAAACCCAACAGCTTTCAAGTCCTGTACATAAAGAAGCATACAAAGTATCATAGACCCAGGGCCTAAAATGAAGTCAAGCCAGGAAGTACAGGATGTGGGGTGTGAACATGGGTGTTTTTAATGTAATGGGAAATTAGGGCTTGGCCTGCATACATTGTTCCTTTGGGTCACATTTGTTAACTAGTGTCAGATGTACTCATTATATTAGGGGTTATGAGAGCTAATAGAAATATTTTAAGACAGGGAAGAATTACCTTTATTACCTGTCTTCTCTGGCCTGCAAGGCCAAATAACAGTTTGTAACCACACCTGCCCGGAAGGCAGCACAGATCTGTGTAGTAGCAGCTTCTTCCCAACCACTGTCACCATGAGGGTGACAGTGTATCCGTAAGCACCCACGTGTAAATTCCCAATTTCTTCTAGGACTTGTACCAGCTAACATTAGGGCATAACACACATGCCCTGACAAATATGTGCCTCTTTGTCCGAAATCAGATTCTGCACACGTATCTGGGGTCTGAAGGGGGATGCTCTCTGCCTGGTGCAGATGGATTTTGATGTCCTTAACCCAGAGCTTCCTCATGGGGTGAAATGTTCGTCTGTTTAGCCGGGATGCCTCCCATGTGCCAGTTGGCACCTGCATTCAGGCCGGGCCCCCAAGCAGCCCCTCTACATTTCCTCTCCCTTTGTTTCTCCAACTAGAACAATGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAACGCAGAGAGGATACTTTATAACATGAGGCCCAAGGAACTGGTGAGTCGGGTGACGGATCTGATGGTAGCACCAAGGAGCATTGCGACGATATTTGGGACAGAGCAGAGGATCTGCTTCCTGGAGCTTTCTTGAAGGTTCCCAAAGTCAGAAGTATAAAGGGAACATTGAATTCAGGCCTCTGACTGAGTAGAGAAGTGAAATATTTTGGTTGGTGCAAAAGTAATCGCGGTTTTTGCTATTACTTTCAATGGCAAAACCACTATTACTTTTGCCGTTGAAAGTAATGGCAAAAACCGCGATTACTTTTGCACCAACCTATATGACATTGAATACGTGCTGTTTTACCCTCTCCCTTTGGCATAAACCACATGGAGAAGCCTCCGTCTCTGTTTTTCCCTCATGGGGGACAGTGTGGTTACGGAACCTAGCAGACCTGAGTTCAAGTCCATAGCTCTGCCTGTTTTGCTGTGTTACCTTAGACTTCTCTGAGCTGCACTTTCCTGATCCATAAAAGGACAATAATAATAATATTCCCTAGTCCAGAGGGTTGCTTTGAAGACTAGATGAGAAGATTCATGTCAAGCCCTAGCACCATGCTCAGCACCTGATACACCCTTAATGAACGGAAGTTCCTTTTCCTTTTTCTTTCCTCGTTTGCTGCTGGTATTTGAGCCATATCTTTGTCCAGTGCTGAAGAATTCATGTCTCTTCTTGGTGCCAAGAGTCTGAGCTACAGAAATGTTTTTTGGTTGCTGACGTTTGGATTTTTTGTTTGTTTCATTTAAAGAAAACACGATCTGGTTTATTTTTGAGGGGTGATAGTCACAATTGGCTGTGACTTGCAGGTTGGGAGAGTGTTGCAGGCTGTGAGACGAGCAGCTTTCAGAGACGGTGACATGAGTTGAGGGCAGAGCTCTCTATTTGGACTCTTTTTCCACGCTAATAAACTGTAACTGACAGACTTAAATGAGGGCACCAAAACATTTCTGCCTCCTGGTGACCTGAATGTGCACTTGGGGGCCAGGCAAAAGTCCCTTTATGTATGCTTTTAAATAAAGTTAAGAGCAGCCCAGTTCTTTGATCTCTGAGGTCAGGGAGTAAGTTCTCAGCCCGAGATGGAAGGCCTCTCTGAGTTTACATAACAAGCTTATGTAACTGGGGATCACTGGGGAGGCGAGGTTTGTCATTCTTGAGCAGGGATGGAATGACTATGCAGGGACCCCATTCGGCTTCCCAGGAATCAAGAACATGCCCCAGCTCTCTGACCTATCTCAGGTGGGGAAAATGTCAACACCCAGTGAGGTGGCTGGCACCGGCTCTTGGGCAGCCCCCCGGTGGTTGGAGAACATCATTCTGGCTCATAGGAGGAGTCAGGCTTCCTGGAACAAACACTGTTCTAAGAATCCAAATAGAACACGTGTGTACATGCATGTGTGCGTACATACGTGTGTATGCTCCTGGCCTCAAATCGCATGTAACATGTTGTCTGCTCGATTTAGTATTTGAGAGAATTGGCAGGGAAACAAGCTCAGACAGTGAGGCTCTCTTGTCTCCACCGTTACTTCCAGGGCCTGACTTGGTGTCAGTGCTGACATACGTGGCCTTTGGTATTAGATAATGACAAATAATTCATGGGAATGGCCTCGTGGCAATGGGGGAGGCAGAAATGCCCACTGAATCTTCAAAGAAGATTATAATTTTTAGTACAAATTAGAGGTTGAAGGTATTTTCTTCTTCTTGAAATGATTCAATCATGAATGATGTGTTCATTTGATAAGTGTTGGCCACACCCTACATTGTCCTGGGCATTGCGGAGGGTCTTAGGGGAAGGATTCAGATATGAGCAGACCCAGTCCCCGCTCTCAAGAAACTGAGACAGAAACTTGAGGGAACAATCAGACAGGCACAGAAATGCTCTGAGAAATGTGCTCAAACCATGAGACAAGCCAAGTGTGTGGTCCTCCGGGAGCCGAGTCGTGCGGCTGTGAAGGGTAATAGGGCCAAGTTCACATCCCAGCTCACCAC
CAACCTTTCTCTTCCACGTAAGGTATCTCATGAGGGGATAGGAGCTTCTGAACTGTTAGGTCACACAGAATGAAGATTCCTTGCTCCAAGCTAAGAAGTGAATCCCAACAGCATCGAGTACTAAATACCTTGGTTCTGAAAGTCACAAAGAGAGAAACAGTGGAAACGCCATTCCCTCTCTGGTTTCTGATTTTTCCCCATTTGAGGGAAAAGGGCCGGTTGAAGAATAGTACAACTAAGCCTATCTAGGACCAAAAAAAAAAAACCCAAAAAAACAAACATGTATTTTTACTTAATCAAGGAAATACCTTTTTCTCTTTTGTCACTGATTTAGCAGAAGGGTGGTTAATAATGTTGGTTTAAAATAAGGAAAATTACACAAACCAAAAATGTGCCTGCGGGCCTCTGCTGAGTTTCTCTGTATTGTGTACAAATGCGGGACTGCAGGTGACTGATGTGGAAGCCCCACTGACATTTGGACTCTCTATTACTCAAACAGCTTAACGGAATGAAAATCGTGACTTCTAGGTGCTAAACCTGCAGCATTTCCAAGCTGGCCTTTTTTGGATATTTGAGAAATTGATATACCATTCCTGATGTTGACTTCTAAAGTATACCCAGAAAACCCTCCCTTCTATGTAGGGGTTCCATAGGTTCTCTGAGAATCCCATGATTCAGTTTTAACAATTGAGCTTGCAGGCATCAGGTTTCTAAAGTATATTTCAAAACATGTTAGCCTTTCTGGACACATTTCCTTTTTAACTGTTCCCATGTCAGGGCATGTTGAGATTTGTCCTCTATCTGCCCATCCGCAGCAGCGAGCACTTCATCATTATCATGAAAGAGCCTAGAACTACAGGGTTTTGGCTGAAAGGTTGAGCTGTATTTATTGCATGAAGGATGTCATAGGAAAGGTCATTAGGAAAGATGGGAACACAGAAACCTGTGGGAATGGCAGTTATTTTTTCTTTACTATTTAGAACTGAGAGTCCACACTAACAGTCGATTTGGGTGTGTGGTTTAAATGGACTTTTTTTCTGCTATTTTTAATTCCTTTTGACAAATTGTGTTTTAGAGTGAATTTTAACAGATTCAACCTTGTGTACCTGGCCACCATTTATCAGAAAGTCCGAAATAAACAGAAGTTCATGTGCTCCTGGTCAGCATTTGAGTGACTTTTTCAACTAATCCAGTGATCTATGGATGATGATAGAAATTTGTGCCCTGCGATAGCATGATACCCTGACTCAACTGCTGTGACCTAAACTAGGGGAAGAAATAAGACCACTCTCACTGTCCAAAAAAAGAAAAAAAACCCAACAGCTTTCAAGTCCTGTACATAAAGAAGCATACAAAGTATCATAGACCCAGGGCCTAAAATGAAGTCAAGCCAGGAAGTACAGGATGTGGGGTGTGAACATGGGTGTTTTTAATGTAATGGGAAATTAGGGCTTGGCCTGCATACATTGTTCCTTTGGGTCACATTTGTTAACTAGTGTCAGATGTACTCATTATATTAGGGGTTATGAGAGCTAATAGAAATATTTTAAGACAGGGAAGAATTACCTTTATTACCTGTCTTCTCTGGCCTGCAAGGCCAAATAACAGTTTGTAACCACACCTGCCCGGAAGGCAGCACAGATCTGTGTAGTAGCAGCTTCTTCCCAACCACTGTCACCATGAGGGTGACAGTGTATCCGTAAGCACCCACGTGTAAATTCCCAATTTCTTCTAGGACTTGTACCAGCTAACATTAGGGCATAACACACATGCCCTGACAAATATGTGCCTCTTTGTCCGAAATCAGATTCTGCACACGTATCTGGGGTCTGAAGGGGGATGCTCTCTGCCTGGTGCAGATGGATTTTGATGTCCTTAACCCAGAGCTTCCTCATGGGGTGAAATGTTCGTCTGTTTAGCCGGGATGCCTCCCATGTGCCAGTTGGCACCTGCATTCAGGCCGGGCCCCCAAGCAGCCCCTCTACATTTCCTCTCCCTTTGTTTCTCCAACTAGAACAATGCCTCGAAGTTGCTCCTGGCCATCATGGGAAGCAGGCACGACAGTGAAAACGCAGAGAGGATACTTTATAACATGAGGCCCAAGGAACTGGTGAGTCGGGTGACGGATCTGATGGTAGCACCAAGGAGCATTGCGACGATATTTGGGACAGAGCAGAGGATCTGCTTCCTGGAGCTTTCTTGAAGGTTCCCAAAGTCAGAAGTATAAAGGGAACATTGAATTCAGGCCTCTGACTGAGTAGAGAAGTGAAATATTTTGGTTGGTGCAAAAGTAATCGCGGTTTTTGCTATTACTTTCAATGGCAAAACCACTATTACTTTTGCCGTTGAAAGTAATGGCAAAAACCGCGATTACTTTTGCACCAACCTATATGACATTGAATACGTGCTGTTTTACCCTCTCCCTTTGGCATAAACCACATGGAGAAGCCTCCGTCTCTGTTTTTCCCTCATGGGGGACAGTGTGGTTACGGAACCTAGCAGACCTGAGTTCAAGTCCATAGCTCTGCCTGTTTTGCTGTGTTACCTTAGACTTCTCTGAGCTGCACTTTCCTGATCCATAAAAGGACAATAATAATAATATTCCCTAGTCCAGAGGGTTGCTTTGAAGACTAGATGAGAAGATTCATGTCAAGCCCTAGCACCATGCTCAGCACCTGATACACCCTTAATGAACGGAAGTTCCTTTTCCTTTTTCTTTCCTCGTTTGCTGCTGGTATTTGAGCCATATCTTTGTCCAGTGCTGAAGAATTCATGTCTCTTCTTGGTGCCAAGAGTCTGAGCTACAGAAATGTTTTTTGGTTGCTGACGTTTGGATTTTTTGTTTGTTTCATTTAAAGAAAACACGATCTGGTTTATTTTTGAGGGGTGATAGTCACAATTGGCTGTGACTTGCAGGTTGGGAGAGTGTTGCAGGCTGTGAGACGAGCAGCTTTCAGAGACGGTGACATGAGTTGAGGGCAGAGCTCTCTATTTGGACTCTTTTTCCACGCTAATAAACTGTAACTGACAGACTTAAATGAGGGCACCAAAACATTTCTGCCTCCTGGTGACCTGAATGTGCACTTGGGGGCCAGGCAAAAGTCCCTTTATGTATGCTTTTAAATAAAGTTAAGAGCAGCCCAGTTCTTTGATCTCTGAGGTCAGGGAGTAAGTTCTCAGCCCGAGATGGAAGGCCTCTCTGAGTTTACATAACAAGCTTATGTAACTGGGGATCACTGGGGAGGCGAGGTTTGTCATTCTTGAGCAGGGATGGAATGACTATGCAGGGACCCCATTCGGCTTCCCAGGAATCAAGAACATGCCCCAGCTCTCTGACCTATCTCAGGTGGGGAAAATGTCAACACCCAGTGAGGTGGCTGGCACCGGCTCTTGGGCAGCCCCCCGGTGGTTGGAGAACATCATTCTGGCTCATAGGAGGAGTCAGGCTTCCTGGAACAAACACTGTTCTAAGAATCCAAATAGAACACGTGTGTACATGCATGTGTGCGTACATACGTGTGTATGCTCCTGGCCTCAAATCGCATGTAACATGTTGTCTGCTCGATTTAGTATTTGAGAGAATTGGCAGGGAAACAAGCTCAGACAGTGAGGCTCTCTTGTCTCCACCGTTACTTCCAGGGCCTGACTTGGTGTCAGTGCTGACATACGTGGCCTTTGGTATTAGATAATGACAAATAATTCATGGGAATGGCCTCGTGGCAATGGGGGAGGCAGAAATGCCCACTGAATCTTCAAAGAAGATTATAATTTTTAGTACAAATTAGAGGTTGAAGGTATTTTCTTCTTCTTGAAATGATTCAATCATGAATGATGTGTTCATTTGATAAGTGTTGGCCACACCCTACATTGTCCTGGGCATTGCGGAGGGTCTTAGGGGAAGGATTCAGATATGAGCAGACCCAGTCCCCGCTCTCAAGAAACTGAGACAGAAACTTGAGGGAACAATCAGACAGGCACAGAAATGCTCTGAGAAATGTGCTCAAACCATGAGACAAGCCAAGTGTGTGGTCCTCCGGGAGCCGAGTCGTGCGGCTGTGAAGGGTAATAGGGCCAAGTTCACATCCCAGCTCACCAC
Task1_train_5889
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?
Pathogenic; Spinocerebellar ataxia type 29
TAGAAGTGTTCCTCACAGCATTATTTGTTATGACATATAATTGGAAACATCTTGACTGTTTTTAAAAAACATATTGGTTATGTTAATCATGTTTTTCCCATATAGTGAAATACCAGGTGATCATTTTTGACAGGAAAATGTTCCTGATGGCTTGGTGAAAGGCTGGTTATGTGCCAGTATTATGGTCTAATATTTTTGTAAACAATATATATCTATAAATTGCATTTTTTAAGGCCAGAAGGAATTAAGCTATTGAGCGAATGTCTCTAGATGGTGAATTATTAGTGACTTTTTTTCCTTTGTGCTTTTTTTTGTTTTCCAAGTTTTCTCCATTGAACATGTATAATTTTCCAATTAGAAGAAAGCTTTTCTTTTATATAAATAATACTTATTGATTGTTTTAAAATCAGAAACTATAGATGAGTGAAAAGGAAAAAATCGCTTGTCATTTCTATGATTTGGAGCCTGTGTAATCTCTGCGGTCCTTAACCACAGAAAACAAGTGCCATTTGTTTGTTGTCTGAAGTTGCGCTTACTTGCCACTTTATATTGAGCTGCTGGAAAACATTTAACCAACATTAACAGCAACACTTTGCCTTCTGTCATATTGTATTGACTAAAATCCCTCTTCCTTGCTTCCCTTTAAGTATCCTACTCTACCCAATGCCCTTCACAGAACTAGTCTCAGAACACAGATTGGTGTCAAGGAGGCAGAAAAGCCAATCGACCGGAAAATGACCTCAGATGAAAAATTCTAAATTGGAAGGGACTCAGAGATCAGCTGTCTCAGTCCACTTATTTTACAGATGAGGAAACAGATCCAGAGAGCTTAGATGGCTTGGCCGACATCTTGCAACAAATTAAAAGCAGTCAGGATTCAACCCTGTCCCCTGACTCACTTCATGGTGCAGTCACACCCCAAAGCCACAGTGGAGACCAAACCTTCTGTACAGGATTAGACAGCAGCCAGAGGCCATGCTAAAAACTAGCCTCAGGTCTAAGAGTAACTTCAGAGAGCTCTCTCCCCACACTCCCCACCATTCTCCCAGTCAAGTATCTGTGACTGTAGCTCTTGGAAAACTAGCCATCATCCTCCCATACCTATATGTACCTACAAGGATCCTCCATTCCTCAGGAAGCCAACTTCTTGCAAAGAGCAGGTTCCTTAGCAGAGGGCAAGCCTGGATTGTGAAGGCACTGTGACCTGCAGGGGTCTTACCCTCGCAATGTTAACGTCACTAATGTCCCTGCGATACACCAGCTATGTGACCCTGCCCCAGTCTCTTGATCAGGAAATTGATGATAATTACTATTTACTGTACTTACTGAGCATATGGATGCCAGTGTGCTAAGCACTGTGCGTACGTGGTTTACTTATTCTTCATAACAACTCTACATCCTCCAGTCTGCAAATGAGGAAATGGAGACTCAGAGGGGATGAGGAAAGTGCCTAGCCCGAGATCATACGGTGGACAGTAGCTGAGCTGAGATTTGAATTTACATCTAAGTCCAGAGTTCTTGCCACTGACGCTGGCTTGTAGTACGTCTGCCTTCCCACCAGACACTGGGCTGCAGGAGGGCAGGGACCAGGGTGGCTGGCTCTTCATAAACTCAATTCAGTACCTTCTAAATGAATGGATGCCAAGACCCTCATCACTTTCCTCTCCCTTTGTCTCTGAAACTCATTGGCACAAGCATGTATTTTCTCTATTTCCAGTCCCTCTAAATGGCTCTGGATACTACTTGAAGTTGCTATTGTTTCCTGCTTCCTCTTCTGTGTTTATTTTTCCTCATTTTTACCATCTCCGTTTCACTGTGAAGCCAGGGAAGATGTTCAGTGTTAAGATCATATGTAGTGCTTTTGAGTGTCTAAGAGGGCAAACTCTCTATAAACCAAGTTTGCATTATGGGATAGTGATGTACATCTAACATCAAGGCTTCTTAAAATTCTTTTTGTTTGTTTTCAAAGCTTTTTGATTTAGTGTACAGAGAAGAGACTTTGCTTAATGTCATTAAAAGTGTCACTCGCAATGGACGGTCCATCATCCTGACAGCAGTTCTGGCTCTGATCCTCGTTTACCTGTTCTCAATAGTGGGCTATCTTTTCTTCAAGGATGACTTTATCTTGGAAGTAGATAGGCTGCCCAATGAAACAGCTGTTCCAGGTGGGTTTGGGATCTTCTGATCTTTTTAATGCTAAAAGATTATTTCCTGATTATAACTGAACTAAAGAAAATAACGACTTTAGTAATGCAGATATCTCCCCATTGTATCTCCCTAACACGCAGAGTGTGAATTTCAAATACAGGTCTTCATTCTCACAATGAATGTGGCAATGTGGCATATCAAATGCTAAGAGTGGGTGACCAGATCTGACATTTATTTATTCACTAACATCATCTTTTAAACTAGTGCAACTTTTTTGTAAAGCAGTGACCATACATATTGAGAGCGTTGGAGTATGCATCCCTTTAACTGAGTAAATCTACTTCTAGGATCAATACTTAAAGAAAAAAAGGCTGCCGACTGTGCACGTAGAAACAGACATATATGGGAGAACGTTCGCTGCAGTGTACAGTTGGAAGCAGTGTAAATGTTCGGGGGTGTTTCATCAGATCATGGTACATCCATGAGGTGGGGTGCCTTGCACATAGGTACATCTTTAGAAACCTCCATGGAAAAATACCCACAAGATGTAGTTGGAAATGGCAGAAGGATAACTATAGTAGGATCACATGTATGTCTTTTTTTTTTTTTTTTTCGAGACAGGATCTCACTCTGTCTCCCAGGCTGATGTGCAGTGGTATGATTTCACCTCACTGCAACCTCCAACCTCCCGAGCTCAAGCAATCCTCCCACCTCAGCCTCCCCAGTAGCTGAAACTGCAGGCGCCTGCCACTGCATGTGGCTAATTGTATTTTTTGTAGAGATAGGTTCTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAGGCGATCCCCCAGCTTTAGCTTCCCAAAGTGCTGGGATTACAGGTGTGGGCCACTATGCCTGGTCTTATGTTTTCTTAAAAATTAAAAAGCCCATATACATATATTAAAACATGGATGACTGTACCTCCAGACTGCTAGCAGTAGCTCTCTCTGGGGCTTTTTTACTATATGCAGGTTTTACAGTGAGCTCATGTTATTTTTACACATAGCAAGAACAGAAGAGATTTCCAATTCTGAGAGTGAAAAAAAATGACCATAATACTTGAATGGTACCCAAGTGCCCTCTTCTCTCAGTTACAATAGTTGGCCCGACTTAGTGAAATACTACTGGTTTTTCATCCCGAGTCTAAGAAACAGACTAGAATCGTTGTGGCTGACTGAGCCAGCCAGCCTTTGTGCTCTCCCTCCCAAATGCTGTGTTCTTGGCATGTATCTCCAGCCTCCCAAGTTGACACTAAGTGACATTTACTGCCAGCCATCTTAGAGTTGTGGACTAAACTGGCCTGGACCTTGGATTTCTATTAATGCCTGCTAATGCTTCTCGTGCAGACTTGGTATAAATCTTGCCAGAGTCTGTACGTTCAGTAGTATCTGTCTAAGAGTTTCAGCTGTTTGTCTTTAAAGTTGGAGAGGTGCTATTTAAGTGCGATATTTCTAGTAAGCCTACAGGAATTGACATTTTTGGCTTTTTTCCCATCCAGATCACCAAATGAAAGTGTAAATTGCATTTCTGCTTTGAATTTATATGCAAGATTCTAGGGTGTTATTTATGTAAAGAATTGTTTAATCAGCCGTGAATTGGGGACTTCAAACATTTTAACCATATGCTGCCAGATTGTTCATCATAAAATTTCCTTCTCTCTCCCAGAAACCGGCGAGAGTTTGGCAAGCGAGTTCCTGTTCTCCGATGTGTGTAGGGTGGAGAGTGGGGAGAACTGCTCCTCTCCTGCACCCAGAGAAGGTAGGACCTCCTAACTGTAAGCCCCATGTTAATATCGGACTCCTCCAGAGGCTTAGCTGATGCAGGTGATGTTGGAAGAAGATTAAATTTACTGCTCAGGAGTAAGGCTATAGCAAAGGGGAAAGGCTGAGAAAGAGGAGGGAGATGAAGGGAAAAG
TAGAAGTGTTCCTCACAGCATTATTTGTTATGACATATAATTGGAAACATCTTGACTGTTTTTAAAAAACATATTGGTTATGTTAATCATGTTTTTCCCATATAGTGAAATACCAGGTGATCATTTTTGACAGGAAAATGTTCCTGATGGCTTGGTGAAAGGCTGGTTATGTGCCAGTATTATGGTCTAATATTTTTGTAAACAATATATATCTATAAATTGCATTTTTTAAGGCCAGAAGGAATTAAGCTATTGAGCGAATGTCTCTAGATGGTGAATTATTAGTGACTTTTTTTCCTTTGTGCTTTTTTTTGTTTTCCAAGTTTTCTCCATTGAACATGTATAATTTTCCAATTAGAAGAAAGCTTTTCTTTTATATAAATAATACTTATTGATTGTTTTAAAATCAGAAACTATAGATGAGTGAAAAGGAAAAAATCGCTTGTCATTTCTATGATTTGGAGCCTGTGTAATCTCTGCGGTCCTTAACCACAGAAAACAAGTGCCATTTGTTTGTTGTCTGAAGTTGCGCTTACTTGCCACTTTATATTGAGCTGCTGGAAAACATTTAACCAACATTAACAGCAACACTTTGCCTTCTGTCATATTGTATTGACTAAAATCCCTCTTCCTTGCTTCCCTTTAAGTATCCTACTCTACCCAATGCCCTTCACAGAACTAGTCTCAGAACACAGATTGGTGTCAAGGAGGCAGAAAAGCCAATCGACCGGAAAATGACCTCAGATGAAAAATTCTAAATTGGAAGGGACTCAGAGATCAGCTGTCTCAGTCCACTTATTTTACAGATGAGGAAACAGATCCAGAGAGCTTAGATGGCTTGGCCGACATCTTGCAACAAATTAAAAGCAGTCAGGATTCAACCCTGTCCCCTGACTCACTTCATGGTGCAGTCACACCCCAAAGCCACAGTGGAGACCAAACCTTCTGTACAGGATTAGACAGCAGCCAGAGGCCATGCTAAAAACTAGCCTCAGGTCTAAGAGTAACTTCAGAGAGCTCTCTCCCCACACTCCCCACCATTCTCCCAGTCAAGTATCTGTGACTGTAGCTCTTGGAAAACTAGCCATCATCCTCCCATACCTATATGTACCTACAAGGATCCTCCATTCCTCAGGAAGCCAACTTCTTGCAAAGAGCAGGTTCCTTAGCAGAGGGCAAGCCTGGATTGTGAAGGCACTGTGACCTGCAGGGGTCTTACCCTCGCAATGTTAACGTCACTAATGTCCCTGCGATACACCAGCTATGTGACCCTGCCCCAGTCTCTTGATCAGGAAATTGATGATAATTACTATTTACTGTACTTACTGAGCATATGGATGCCAGTGTGCTAAGCACTGTGCGTACGTGGTTTACTTATTCTTCATAACAACTCTACATCCTCCAGTCTGCAAATGAGGAAATGGAGACTCAGAGGGGATGAGGAAAGTGCCTAGCCCGAGATCATACGGTGGACAGTAGCTGAGCTGAGATTTGAATTTACATCTAAGTCCAGAGTTCTTGCCACTGACGCTGGCTTGTAGTACGTCTGCCTTCCCACCAGACACTGGGCTGCAGGAGGGCAGGGACCAGGGTGGCTGGCTCTTCATAAACTCAATTCAGTACCTTCTAAATGAATGGATGCCAAGACCCTCATCACTTTCCTCTCCCTTTGTCTCTGAAACTCATTGGCACAAGCATGTATTTTCTCTATTTCCAGTCCCTCTAAATGGCTCTGGATACTACTTGAAGTTGCTATTGTTTCCTGCTTCCTCTTCTGTGTTTATTTTTCCTCATTTTTACCATCTCCGTTTCACTGTGAAGCCAGGGAAGATGTTCAGTGTTAAGATCATATGTAGTGCTTTTGAGTGTCTAAGAGGGCAAACTCTCTATAAACCAAGTTTGCATTATGGGATAGTGATGTACATCTAACATCAAGGCTTCTTAAAATTCTTTTTGTTTGTTTTCAAAGCTTTTTGATTTAGTGTACAGAGAAGAGACTTTGCTTAATGTCATTAAAAGTGTCACTCGCAATGGACGGTCCATCATCCCGACAGCAGTTCTGGCTCTGATCCTCGTTTACCTGTTCTCAATAGTGGGCTATCTTTTCTTCAAGGATGACTTTATCTTGGAAGTAGATAGGCTGCCCAATGAAACAGCTGTTCCAGGTGGGTTTGGGATCTTCTGATCTTTTTAATGCTAAAAGATTATTTCCTGATTATAACTGAACTAAAGAAAATAACGACTTTAGTAATGCAGATATCTCCCCATTGTATCTCCCTAACACGCAGAGTGTGAATTTCAAATACAGGTCTTCATTCTCACAATGAATGTGGCAATGTGGCATATCAAATGCTAAGAGTGGGTGACCAGATCTGACATTTATTTATTCACTAACATCATCTTTTAAACTAGTGCAACTTTTTTGTAAAGCAGTGACCATACATATTGAGAGCGTTGGAGTATGCATCCCTTTAACTGAGTAAATCTACTTCTAGGATCAATACTTAAAGAAAAAAAGGCTGCCGACTGTGCACGTAGAAACAGACATATATGGGAGAACGTTCGCTGCAGTGTACAGTTGGAAGCAGTGTAAATGTTCGGGGGTGTTTCATCAGATCATGGTACATCCATGAGGTGGGGTGCCTTGCACATAGGTACATCTTTAGAAACCTCCATGGAAAAATACCCACAAGATGTAGTTGGAAATGGCAGAAGGATAACTATAGTAGGATCACATGTATGTCTTTTTTTTTTTTTTTTTCGAGACAGGATCTCACTCTGTCTCCCAGGCTGATGTGCAGTGGTATGATTTCACCTCACTGCAACCTCCAACCTCCCGAGCTCAAGCAATCCTCCCACCTCAGCCTCCCCAGTAGCTGAAACTGCAGGCGCCTGCCACTGCATGTGGCTAATTGTATTTTTTGTAGAGATAGGTTCTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAGGCGATCCCCCAGCTTTAGCTTCCCAAAGTGCTGGGATTACAGGTGTGGGCCACTATGCCTGGTCTTATGTTTTCTTAAAAATTAAAAAGCCCATATACATATATTAAAACATGGATGACTGTACCTCCAGACTGCTAGCAGTAGCTCTCTCTGGGGCTTTTTTACTATATGCAGGTTTTACAGTGAGCTCATGTTATTTTTACACATAGCAAGAACAGAAGAGATTTCCAATTCTGAGAGTGAAAAAAAATGACCATAATACTTGAATGGTACCCAAGTGCCCTCTTCTCTCAGTTACAATAGTTGGCCCGACTTAGTGAAATACTACTGGTTTTTCATCCCGAGTCTAAGAAACAGACTAGAATCGTTGTGGCTGACTGAGCCAGCCAGCCTTTGTGCTCTCCCTCCCAAATGCTGTGTTCTTGGCATGTATCTCCAGCCTCCCAAGTTGACACTAAGTGACATTTACTGCCAGCCATCTTAGAGTTGTGGACTAAACTGGCCTGGACCTTGGATTTCTATTAATGCCTGCTAATGCTTCTCGTGCAGACTTGGTATAAATCTTGCCAGAGTCTGTACGTTCAGTAGTATCTGTCTAAGAGTTTCAGCTGTTTGTCTTTAAAGTTGGAGAGGTGCTATTTAAGTGCGATATTTCTAGTAAGCCTACAGGAATTGACATTTTTGGCTTTTTTCCCATCCAGATCACCAAATGAAAGTGTAAATTGCATTTCTGCTTTGAATTTATATGCAAGATTCTAGGGTGTTATTTATGTAAAGAATTGTTTAATCAGCCGTGAATTGGGGACTTCAAACATTTTAACCATATGCTGCCAGATTGTTCATCATAAAATTTCCTTCTCTCTCCCAGAAACCGGCGAGAGTTTGGCAAGCGAGTTCCTGTTCTCCGATGTGTGTAGGGTGGAGAGTGGGGAGAACTGCTCCTCTCCTGCACCCAGAGAAGGTAGGACCTCCTAACTGTAAGCCCCATGTTAATATCGGACTCCTCCAGAGGCTTAGCTGATGCAGGTGATGTTGGAAGAAGATTAAATTTACTGCTCAGGAGTAAGGCTATAGCAAAGGGGAAAGGCTGAGAAAGAGGAGGGAGATGAAGGGAAAAG
Task1_train_5890
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?
Pathogenic; not provided
TTACACATAGCAAGAACAGAAGAGATTTCCAATTCTGAGAGTGAAAAAAAATGACCATAATACTTGAATGGTACCCAAGTGCCCTCTTCTCTCAGTTACAATAGTTGGCCCGACTTAGTGAAATACTACTGGTTTTTCATCCCGAGTCTAAGAAACAGACTAGAATCGTTGTGGCTGACTGAGCCAGCCAGCCTTTGTGCTCTCCCTCCCAAATGCTGTGTTCTTGGCATGTATCTCCAGCCTCCCAAGTTGACACTAAGTGACATTTACTGCCAGCCATCTTAGAGTTGTGGACTAAACTGGCCTGGACCTTGGATTTCTATTAATGCCTGCTAATGCTTCTCGTGCAGACTTGGTATAAATCTTGCCAGAGTCTGTACGTTCAGTAGTATCTGTCTAAGAGTTTCAGCTGTTTGTCTTTAAAGTTGGAGAGGTGCTATTTAAGTGCGATATTTCTAGTAAGCCTACAGGAATTGACATTTTTGGCTTTTTTCCCATCCAGATCACCAAATGAAAGTGTAAATTGCATTTCTGCTTTGAATTTATATGCAAGATTCTAGGGTGTTATTTATGTAAAGAATTGTTTAATCAGCCGTGAATTGGGGACTTCAAACATTTTAACCATATGCTGCCAGATTGTTCATCATAAAATTTCCTTCTCTCTCCCAGAAACCGGCGAGAGTTTGGCAAGCGAGTTCCTGTTCTCCGATGTGTGTAGGGTGGAGAGTGGGGAGAACTGCTCCTCTCCTGCACCCAGAGAAGGTAGGACCTCCTAACTGTAAGCCCCATGTTAATATCGGACTCCTCCAGAGGCTTAGCTGATGCAGGTGATGTTGGAAGAAGATTAAATTTACTGCTCAGGAGTAAGGCTATAGCAAAGGGGAAAGGCTGAGAAAGAGGAGGGAGATGAAGGGAAAAGAAGGTTACACCTGAAGAAAAGATCTGATGTGATTCAGCCGATTTATACTGAGTGCCCGCCATTTGCCAGGGACTGTGGTGTACTCTAAGAGACAGTAATGTAGTGGAGGGTGCGGGCAGGCCAAATGGTGATTGCTAGAGAGTTGCCCAATGCTGGGAATAAGGATGGAATACAGAAGTTAGGCACCCGGCCTACTACTGGGCTAAGCGTATCATCAAGAAAGTGATATCCAAACTATAAAAGGAGACTCTTGATATTCCAAGGAGAGGGAATAGTACATCTAAAGGCTTTAAAGGTAAAAAGAAAAAAACAGCAAGTTTGGGGAGATAATGATTATAAGGAAGGAGAGTGGCAAGAAATGAAGCCACAGATACAAACAAAGGGCTAGATCATGAAGGATCTTCTATGTCAGGCGTAGGAGGTTAAACTTCGTCCAGAGGATGGTCAGGGGTTGTTGGAAGATGAGTGATGAAATCTGTGTTTTAGCAAGACCCTCTGCAGCTGGAGAAAGGAATGAGGCACACAGCAAGGCATGGCTCTTACTGCATAAACCAGTGAGAATGAACAGCCTCCAATGTAAAGCAGTTGATCCAGAGGCCCTGCCGTGAAATATCCCTGGATATAGTCCTCACACCATTCCCAGTGAGGAACCTGTGTCCTGTGGCATAACCCTCATCTGAGAGACAAGAGGCCTGTGACTCAGAGTTGCGAAGCAACTCATCTGACATGAAAAGACTGTTTGCGGCTGGGTCTGGGGTTTAAAACCTGAAAAGGACAGGGCATGTTTTAGATCCCACAGAGGGAGAGCAATACTACCATAGCTGGAGAAATTAGCGGGGGTTAGCGATGAAAACAGTTGCCCCAGACGACTTTAGCTTTTGAAAGAAAATAAGAAAATTCTTGGCTCTTGATTCCTTAATTTTATTCTTTCGTGTGCCTGGTGAGATGGCATTCAGGAAACAGGATTTCAAAATCCCGGTCTCTCTTTTCTCCTCACGTTTTCTCTCTGTTGTTACTTGCCGTGTTCACAGAGCTGGTCCCTGCAGAAGAGACGGAACAGGATAAAGAGCACACATGTGAGACGCTGCTGATGTGCATTGTCACTGTGCTGAGTCACGGGCTGCGGAGCGGGGGTGGAGTAGGAGATGTACTCAGGAAGCCGTCCAAAGAGGTAAATTAATCCCGAGGGGAAGGAAGGGCAAAGGGGGCGGGTGGGGTGGTTGGTGGGAGCACCATGCAGCGGTGTTGAGTGTAAACTGAAGACGCAGAGGAAGAGCTGGGAGTAGGGCTGAGTAGCTGCGGAACTAGCTCATCAGGCTCCTTTCCTCTCTATCACGTGAGGTGGTGCCGCAAAGTCAGCTGCGTGGAAAGGGTTGGCTTTGGCTCTCTGTTCAGTAGACTTAGGGACTGTTTCCATCAGGGTTAGGCCTGATCCACCTGAACGCACAGTGAATATCCCTCCTGGCTGTGTCACACCACACTTGGAGAAGTCGCAATTGAGACAGGGGACATGAAAAGAGATGCAGTTTTCAGTTTAAAAGTTGAATGCCCAATTTAATTTCTACCCAAGTAGATGAGGTCTCACTTGAGCTGTGCCCCAGGCTCCGCAGACCAAAGGGTCGCAAGGGACCCAGACTGATCCAGACACCTCTCTTTTCCAGGAACCCCTGTTTGCTGCTAGAGTTATTTATGACCTCTTGTTCTTCTTCATGGTCATCATCATTGTTCTTAACCTGATTTTTGGGGTTATCATTGACACTTTTGCTGACCTGAGGAGTGAGAAGCAGAAGAAGGAAGAGATCTTGAAGACCACGTGCTTTATCTGTGGTGAGTGTCGCTGGCCAGCTCCAGCAAGGGCGTGAAGGCCCAGCGTGGCAGAGGCATGTGGATACTGCGAGGGTGTGATGGGCGGGGTGCCTGCCCAGTTATGCGGGAGGGGGCACCGGCTGCTGCTTCGTCTTGACTCTTCTACCCTCTGCCGTGAGTGAGGCTCTCCTTGGCCTTTATTCTGCTGGGAAGTATTTACAGACCTGGGTTCTGACTGAGCTTCTACCACTTAACTAACTGTGTAACATCATTTAGTCATTTAACATCTTTAATCCTTCTTTCTTCATCTGTAAAATGGGTACAATAACATGTCCTTCTCTGCATTATTGTGAGAATTATGAGAGACAGCGTATGTAACACTCCTAGCTAGAACCTGGCACACTATAGGCACGGGAGGAGAAGTAGTGAACGGCTACGTAAAAGAGGTGCATGGACACCAAACAAATCATTTTCAGTATAACTACAGGAAAATATTTGTAAATGTAAACTAATCATGGAGGAATCTGGGGAGCTGAGTAATCATTTCAGGATTATTCATAATATAGCTACTAAATATATAAATTTCCTAGTGGTATGTATGCTAAAAAAAAAGATCAGTTTCCAATTAAAGACTTAAATTCTTTGCTTTTTGCCCCCTTAAAACCTTTTTAAGCTTTTTGCTTTGGCATAATTTCAGAGTTATAGAAAAGACATGACTATCCAAAGAATTTCTATATATTCTTCACCCAGAATCCCCAAATATTAATATTTTATCTCATTTGCTTTATACACACACACACACACACACACACACACACATTTTCTAATGTGAGTGGCTGACAGTGATGCTTTCTTATCCCTAAATATTTTAGTACACATTTCCTAAAAACAAGAACATTCTCTTGTGTATCTACAGTATAATTATCAAAATTGGGAAATTAAAACAGATCCAATACTGTTATCTCATCTACAGACCTTATTCAAATTTCACCCTTCATTCCAATAATGTCCTTTGCAAATCCCACCTCCTGCGGGGCTTCAGTCACCATGCCTCGTGAGCCTCCGCTGACACTGTTGAAGAATGTAGGTCAATTATTTTGTAGAATGTCCCTTGATTTGAGTTTGTCTGATGTTTGCTCATGGTAAGATTGAGGGTATGTATTTTCCACAGGAATATCAAAGACATGCTGTTGTGTTCTTCTCATTGCATCGTATCAGGAGGCATGTAATGCCAGTTCATCTTGTAACTAGTATCTCGGCTCACTGTAACCTCCACCTCCCAGGGTTCAAGCAATTCTCGTGCTTCAGCCACCTGAGTAGCTAGGATTACAGGTGCCTCTCACCACAACTGGCTGATTTTTTGTATTTGAG
TTACACATAGCAAGAACAGAAGAGATTTCCAATTCTGAGAGTGAAAAAAAATGACCATAATACTTGAATGGTACCCAAGTGCCCTCTTCTCTCAGTTACAATAGTTGGCCCGACTTAGTGAAATACTACTGGTTTTTCATCCCGAGTCTAAGAAACAGACTAGAATCGTTGTGGCTGACTGAGCCAGCCAGCCTTTGTGCTCTCCCTCCCAAATGCTGTGTTCTTGGCATGTATCTCCAGCCTCCCAAGTTGACACTAAGTGACATTTACTGCCAGCCATCTTAGAGTTGTGGACTAAACTGGCCTGGACCTTGGATTTCTATTAATGCCTGCTAATGCTTCTCGTGCAGACTTGGTATAAATCTTGCCAGAGTCTGTACGTTCAGTAGTATCTGTCTAAGAGTTTCAGCTGTTTGTCTTTAAAGTTGGAGAGGTGCTATTTAAGTGCGATATTTCTAGTAAGCCTACAGGAATTGACATTTTTGGCTTTTTTCCCATCCAGATCACCAAATGAAAGTGTAAATTGCATTTCTGCTTTGAATTTATATGCAAGATTCTAGGGTGTTATTTATGTAAAGAATTGTTTAATCAGCCGTGAATTGGGGACTTCAAACATTTTAACCATATGCTGCCAGATTGTTCATCATAAAATTTCCTTCTCTCTCCCAGAAACCGGCGAGAGTTTGGCAAGCGAGTTCCTGTTCTCCGATGTGTGTAGGGTGGAGAGTGGGGAGAACTGCTCCTCTCCTGCACCCAGAGAAGGTAGGACCTCCTAACTGTAAGCCCCATGTTAATATCGGACTCCTCCAGAGGCTTAGCTGATGCAGGTGATGTTGGAAGAAGATTAAATTTACTGCTCAGGAGTAAGGCTATAGCAAAGGGGAAAGGCTGAGAAAGAGGAGGGAGATGAAGGGAAAAGAAGGTTACACCTGAAGAAAAGATCTGATGTGATTCAGCCGATTTATACTGAGTGCCCGCCATTTGCCAGGGACTGTGGTGTACTCTAAGAGACAGTAATGTAGTGGAGGGTGCGGGCAGGCCAAATGGTGATTGCTAGAGAGTTGCCCAATGCTGGGAATAAGGATGGAATACAGAAGTTAGGCACCCGGCCTACTACTGGGCTAAGCGTATCATCAAGAAAGTGATATCCAAACTATAAAAGGAGACTCTTGATATTCCAAGGAGAGGGAATAGTACATCTAAAGGCTTTAAAGGTAAAAAGAAAAAAACAGCAAGTTTGGGGAGATAATGATTATAAGGAAGGAGAGTGGCAAGAAATGAAGCCACAGATACAAACAAAGGGCTAGATCATGAAGGATCTTCTATGTCAGGCGTAGGAGGTTAAACTTCGTCCAGAGGATGGTCAGGGGTTGTTGGAAGATGAGTGATGAAATCTGTGTTTTAGCAAGACCCTCTGCAGCTGGAGAAAGGAATGAGGCACACAGCAAGGCATGGCTCTTACTGCATAAACCAGTGAGAATGAACAGCCTCCAATGTAAAGCAGTTGATCCAGAGGCCCTGCCGTGAAATATCCCTGGATATAGTCCTCACACCATTCCCAGTGAGGAACCTGTGTCCTGTGGCATAACCCTCATCTGAGAGACAAGAGGCCTGTGACTCAGAGTTGCGAAGCAACTCATCTGACATGAAAAGACTGTTTGCGGCTGGGTCTGGGGTTTAAAACCTGAAAAGGACAGGGCATGTTTTAGATCCCACAGAGGGAGAGCAATACTACCATAGCTGGAGAAATTAGCGGGGGTTAGCGATGAAAACAGTTGCCCCAGACGACTTTAGCTTTTGAAAGAAAATAAGAAAATTCTTGGCTCTTGATTCCTTAATTTTATTCTTTCGTGTGCCTGGTGAGATGGCATTCAGGAAACAGGATTTCAAAATCCCGGTCTCTCTTTTCTCCTCACGTTTTCTCTCTGTTGTTACTTGCCGTGTTCACAGAGCTGGTCCCTGCAGAAGAGACGGAACAGGATAAAGAGCACACATGTGAGACGCTGCTGATGTGCATTGTCACTGTGCTGAGTCACGGGCTGCGGAGCCGGGGTGGAGTAGGAGATGTACTCAGGAAGCCGTCCAAAGAGGTAAATTAATCCCGAGGGGAAGGAAGGGCAAAGGGGGCGGGTGGGGTGGTTGGTGGGAGCACCATGCAGCGGTGTTGAGTGTAAACTGAAGACGCAGAGGAAGAGCTGGGAGTAGGGCTGAGTAGCTGCGGAACTAGCTCATCAGGCTCCTTTCCTCTCTATCACGTGAGGTGGTGCCGCAAAGTCAGCTGCGTGGAAAGGGTTGGCTTTGGCTCTCTGTTCAGTAGACTTAGGGACTGTTTCCATCAGGGTTAGGCCTGATCCACCTGAACGCACAGTGAATATCCCTCCTGGCTGTGTCACACCACACTTGGAGAAGTCGCAATTGAGACAGGGGACATGAAAAGAGATGCAGTTTTCAGTTTAAAAGTTGAATGCCCAATTTAATTTCTACCCAAGTAGATGAGGTCTCACTTGAGCTGTGCCCCAGGCTCCGCAGACCAAAGGGTCGCAAGGGACCCAGACTGATCCAGACACCTCTCTTTTCCAGGAACCCCTGTTTGCTGCTAGAGTTATTTATGACCTCTTGTTCTTCTTCATGGTCATCATCATTGTTCTTAACCTGATTTTTGGGGTTATCATTGACACTTTTGCTGACCTGAGGAGTGAGAAGCAGAAGAAGGAAGAGATCTTGAAGACCACGTGCTTTATCTGTGGTGAGTGTCGCTGGCCAGCTCCAGCAAGGGCGTGAAGGCCCAGCGTGGCAGAGGCATGTGGATACTGCGAGGGTGTGATGGGCGGGGTGCCTGCCCAGTTATGCGGGAGGGGGCACCGGCTGCTGCTTCGTCTTGACTCTTCTACCCTCTGCCGTGAGTGAGGCTCTCCTTGGCCTTTATTCTGCTGGGAAGTATTTACAGACCTGGGTTCTGACTGAGCTTCTACCACTTAACTAACTGTGTAACATCATTTAGTCATTTAACATCTTTAATCCTTCTTTCTTCATCTGTAAAATGGGTACAATAACATGTCCTTCTCTGCATTATTGTGAGAATTATGAGAGACAGCGTATGTAACACTCCTAGCTAGAACCTGGCACACTATAGGCACGGGAGGAGAAGTAGTGAACGGCTACGTAAAAGAGGTGCATGGACACCAAACAAATCATTTTCAGTATAACTACAGGAAAATATTTGTAAATGTAAACTAATCATGGAGGAATCTGGGGAGCTGAGTAATCATTTCAGGATTATTCATAATATAGCTACTAAATATATAAATTTCCTAGTGGTATGTATGCTAAAAAAAAAGATCAGTTTCCAATTAAAGACTTAAATTCTTTGCTTTTTGCCCCCTTAAAACCTTTTTAAGCTTTTTGCTTTGGCATAATTTCAGAGTTATAGAAAAGACATGACTATCCAAAGAATTTCTATATATTCTTCACCCAGAATCCCCAAATATTAATATTTTATCTCATTTGCTTTATACACACACACACACACACACACACACACACATTTTCTAATGTGAGTGGCTGACAGTGATGCTTTCTTATCCCTAAATATTTTAGTACACATTTCCTAAAAACAAGAACATTCTCTTGTGTATCTACAGTATAATTATCAAAATTGGGAAATTAAAACAGATCCAATACTGTTATCTCATCTACAGACCTTATTCAAATTTCACCCTTCATTCCAATAATGTCCTTTGCAAATCCCACCTCCTGCGGGGCTTCAGTCACCATGCCTCGTGAGCCTCCGCTGACACTGTTGAAGAATGTAGGTCAATTATTTTGTAGAATGTCCCTTGATTTGAGTTTGTCTGATGTTTGCTCATGGTAAGATTGAGGGTATGTATTTTCCACAGGAATATCAAAGACATGCTGTTGTGTTCTTCTCATTGCATCGTATCAGGAGGCATGTAATGCCAGTTCATCTTGTAACTAGTATCTCGGCTCACTGTAACCTCCACCTCCCAGGGTTCAAGCAATTCTCGTGCTTCAGCCACCTGAGTAGCTAGGATTACAGGTGCCTCTCACCACAACTGGCTGATTTTTTGTATTTGAG
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.
Pathogenic; Spinocerebellar ataxia type 15/16
ATTTTAACCATATGCTGCCAGATTGTTCATCATAAAATTTCCTTCTCTCTCCCAGAAACCGGCGAGAGTTTGGCAAGCGAGTTCCTGTTCTCCGATGTGTGTAGGGTGGAGAGTGGGGAGAACTGCTCCTCTCCTGCACCCAGAGAAGGTAGGACCTCCTAACTGTAAGCCCCATGTTAATATCGGACTCCTCCAGAGGCTTAGCTGATGCAGGTGATGTTGGAAGAAGATTAAATTTACTGCTCAGGAGTAAGGCTATAGCAAAGGGGAAAGGCTGAGAAAGAGGAGGGAGATGAAGGGAAAAGAAGGTTACACCTGAAGAAAAGATCTGATGTGATTCAGCCGATTTATACTGAGTGCCCGCCATTTGCCAGGGACTGTGGTGTACTCTAAGAGACAGTAATGTAGTGGAGGGTGCGGGCAGGCCAAATGGTGATTGCTAGAGAGTTGCCCAATGCTGGGAATAAGGATGGAATACAGAAGTTAGGCACCCGGCCTACTACTGGGCTAAGCGTATCATCAAGAAAGTGATATCCAAACTATAAAAGGAGACTCTTGATATTCCAAGGAGAGGGAATAGTACATCTAAAGGCTTTAAAGGTAAAAAGAAAAAAACAGCAAGTTTGGGGAGATAATGATTATAAGGAAGGAGAGTGGCAAGAAATGAAGCCACAGATACAAACAAAGGGCTAGATCATGAAGGATCTTCTATGTCAGGCGTAGGAGGTTAAACTTCGTCCAGAGGATGGTCAGGGGTTGTTGGAAGATGAGTGATGAAATCTGTGTTTTAGCAAGACCCTCTGCAGCTGGAGAAAGGAATGAGGCACACAGCAAGGCATGGCTCTTACTGCATAAACCAGTGAGAATGAACAGCCTCCAATGTAAAGCAGTTGATCCAGAGGCCCTGCCGTGAAATATCCCTGGATATAGTCCTCACACCATTCCCAGTGAGGAACCTGTGTCCTGTGGCATAACCCTCATCTGAGAGACAAGAGGCCTGTGACTCAGAGTTGCGAAGCAACTCATCTGACATGAAAAGACTGTTTGCGGCTGGGTCTGGGGTTTAAAACCTGAAAAGGACAGGGCATGTTTTAGATCCCACAGAGGGAGAGCAATACTACCATAGCTGGAGAAATTAGCGGGGGTTAGCGATGAAAACAGTTGCCCCAGACGACTTTAGCTTTTGAAAGAAAATAAGAAAATTCTTGGCTCTTGATTCCTTAATTTTATTCTTTCGTGTGCCTGGTGAGATGGCATTCAGGAAACAGGATTTCAAAATCCCGGTCTCTCTTTTCTCCTCACGTTTTCTCTCTGTTGTTACTTGCCGTGTTCACAGAGCTGGTCCCTGCAGAAGAGACGGAACAGGATAAAGAGCACACATGTGAGACGCTGCTGATGTGCATTGTCACTGTGCTGAGTCACGGGCTGCGGAGCGGGGGTGGAGTAGGAGATGTACTCAGGAAGCCGTCCAAAGAGGTAAATTAATCCCGAGGGGAAGGAAGGGCAAAGGGGGCGGGTGGGGTGGTTGGTGGGAGCACCATGCAGCGGTGTTGAGTGTAAACTGAAGACGCAGAGGAAGAGCTGGGAGTAGGGCTGAGTAGCTGCGGAACTAGCTCATCAGGCTCCTTTCCTCTCTATCACGTGAGGTGGTGCCGCAAAGTCAGCTGCGTGGAAAGGGTTGGCTTTGGCTCTCTGTTCAGTAGACTTAGGGACTGTTTCCATCAGGGTTAGGCCTGATCCACCTGAACGCACAGTGAATATCCCTCCTGGCTGTGTCACACCACACTTGGAGAAGTCGCAATTGAGACAGGGGACATGAAAAGAGATGCAGTTTTCAGTTTAAAAGTTGAATGCCCAATTTAATTTCTACCCAAGTAGATGAGGTCTCACTTGAGCTGTGCCCCAGGCTCCGCAGACCAAAGGGTCGCAAGGGACCCAGACTGATCCAGACACCTCTCTTTTCCAGGAACCCCTGTTTGCTGCTAGAGTTATTTATGACCTCTTGTTCTTCTTCATGGTCATCATCATTGTTCTTAACCTGATTTTTGGGGTTATCATTGACACTTTTGCTGACCTGAGGAGTGAGAAGCAGAAGAAGGAAGAGATCTTGAAGACCACGTGCTTTATCTGTGGTGAGTGTCGCTGGCCAGCTCCAGCAAGGGCGTGAAGGCCCAGCGTGGCAGAGGCATGTGGATACTGCGAGGGTGTGATGGGCGGGGTGCCTGCCCAGTTATGCGGGAGGGGGCACCGGCTGCTGCTTCGTCTTGACTCTTCTACCCTCTGCCGTGAGTGAGGCTCTCCTTGGCCTTTATTCTGCTGGGAAGTATTTACAGACCTGGGTTCTGACTGAGCTTCTACCACTTAACTAACTGTGTAACATCATTTAGTCATTTAACATCTTTAATCCTTCTTTCTTCATCTGTAAAATGGGTACAATAACATGTCCTTCTCTGCATTATTGTGAGAATTATGAGAGACAGCGTATGTAACACTCCTAGCTAGAACCTGGCACACTATAGGCACGGGAGGAGAAGTAGTGAACGGCTACGTAAAAGAGGTGCATGGACACCAAACAAATCATTTTCAGTATAACTACAGGAAAATATTTGTAAATGTAAACTAATCATGGAGGAATCTGGGGAGCTGAGTAATCATTTCAGGATTATTCATAATATAGCTACTAAATATATAAATTTCCTAGTGGTATGTATGCTAAAAAAAAAGATCAGTTTCCAATTAAAGACTTAAATTCTTTGCTTTTTGCCCCCTTAAAACCTTTTTAAGCTTTTTGCTTTGGCATAATTTCAGAGTTATAGAAAAGACATGACTATCCAAAGAATTTCTATATATTCTTCACCCAGAATCCCCAAATATTAATATTTTATCTCATTTGCTTTATACACACACACACACACACACACACACACACATTTTCTAATGTGAGTGGCTGACAGTGATGCTTTCTTATCCCTAAATATTTTAGTACACATTTCCTAAAAACAAGAACATTCTCTTGTGTATCTACAGTATAATTATCAAAATTGGGAAATTAAAACAGATCCAATACTGTTATCTCATCTACAGACCTTATTCAAATTTCACCCTTCATTCCAATAATGTCCTTTGCAAATCCCACCTCCTGCGGGGCTTCAGTCACCATGCCTCGTGAGCCTCCGCTGACACTGTTGAAGAATGTAGGTCAATTATTTTGTAGAATGTCCCTTGATTTGAGTTTGTCTGATGTTTGCTCATGGTAAGATTGAGGGTATGTATTTTCCACAGGAATATCAAAGACATGCTGTTGTGTTCTTCTCATTGCATCGTATCAGGAGGCATGTAATGCCAGTTCATCTTGTAACTAGTATCTCGGCTCACTGTAACCTCCACCTCCCAGGGTTCAAGCAATTCTCGTGCTTCAGCCACCTGAGTAGCTAGGATTACAGGTGCCTCTCACCACAACTGGCTGATTTTTTGTATTTGAGTAGAGATGGGATTTCACTATGTTGCTGAGAGGCTGGTCTTGAACTACTGAGCTCAGGCAATCTGCCCGTTTTAGCTTCCCAAAGTGTTAGGATTACAGGCATGAGCCACTGCGCCCAGCCGTGATACTAACGTTGATCATTTGGTTAAGGTGCTAATTGCCAGGTTTTTCCAGTAACTCCATAAAGTTACTTTTTTGGAGAGACACTCTGTAAATATCGTGCTATTCCTTAAACTTTCACCCCTCAGCTTTAGCATTCATTGATGATGCTTGGCTAACTCTATTATGATGATGGTTGCCCAATGATGATTTTTATGTTATTATTATTTCTACATTTCTTTATTGGCTTTTTATTGTAAGAAAGAATTTTTTCTTCTCCCCACATATGTGTTTATATTTCTGTGTTTGTATTTGTAACTACATGGACTTGTGGATTTTTATTTTATTCAATGGGCTATTTATTTTGATGTTCAAATTGCTTCAGATGTGGCCAGTGAGAGCCCTTTCCAGCTGACTCCTGGGTTTAGTCATGTCATCATCGTTTTCTATGTACTTTCTTACTTTTTTGGCATCATAATATATTCCAGGCTTAGGCTCACCTTGTACATTTCCTGA
ATTTTAACCATATGCTGCCAGATTGTTCATCATAAAATTTCCTTCTCTCTCCCAGAAACCGGCGAGAGTTTGGCAAGCGAGTTCCTGTTCTCCGATGTGTGTAGGGTGGAGAGTGGGGAGAACTGCTCCTCTCCTGCACCCAGAGAAGGTAGGACCTCCTAACTGTAAGCCCCATGTTAATATCGGACTCCTCCAGAGGCTTAGCTGATGCAGGTGATGTTGGAAGAAGATTAAATTTACTGCTCAGGAGTAAGGCTATAGCAAAGGGGAAAGGCTGAGAAAGAGGAGGGAGATGAAGGGAAAAGAAGGTTACACCTGAAGAAAAGATCTGATGTGATTCAGCCGATTTATACTGAGTGCCCGCCATTTGCCAGGGACTGTGGTGTACTCTAAGAGACAGTAATGTAGTGGAGGGTGCGGGCAGGCCAAATGGTGATTGCTAGAGAGTTGCCCAATGCTGGGAATAAGGATGGAATACAGAAGTTAGGCACCCGGCCTACTACTGGGCTAAGCGTATCATCAAGAAAGTGATATCCAAACTATAAAAGGAGACTCTTGATATTCCAAGGAGAGGGAATAGTACATCTAAAGGCTTTAAAGGTAAAAAGAAAAAAACAGCAAGTTTGGGGAGATAATGATTATAAGGAAGGAGAGTGGCAAGAAATGAAGCCACAGATACAAACAAAGGGCTAGATCATGAAGGATCTTCTATGTCAGGCGTAGGAGGTTAAACTTCGTCCAGAGGATGGTCAGGGGTTGTTGGAAGATGAGTGATGAAATCTGTGTTTTAGCAAGACCCTCTGCAGCTGGAGAAAGGAATGAGGCACACAGCAAGGCATGGCTCTTACTGCATAAACCAGTGAGAATGAACAGCCTCCAATGTAAAGCAGTTGATCCAGAGGCCCTGCCGTGAAATATCCCTGGATATAGTCCTCACACCATTCCCAGTGAGGAACCTGTGTCCTGTGGCATAACCCTCATCTGAGAGACAAGAGGCCTGTGACTCAGAGTTGCGAAGCAACTCATCTGACATGAAAAGACTGTTTGCGGCTGGGTCTGGGGTTTAAAACCTGAAAAGGACAGGGCATGTTTTAGATCCCACAGAGGGAGAGCAATACTACCATAGCTGGAGAAATTAGCGGGGGTTAGCGATGAAAACAGTTGCCCCAGACGACTTTAGCTTTTGAAAGAAAATAAGAAAATTCTTGGCTCTTGATTCCTTAATTTTATTCTTTCGTGTGCCTGGTGAGATGGCATTCAGGAAACAGGATTTCAAAATCCCGGTCTCTCTTTTCTCCTCACGTTTTCTCTCTGTTGTTACTTGCCGTGTTCACAGAGCTGGTCCCTGCAGAAGAGACGGAACAGGATAAAGAGCACACATGTGAGACGCTGCTGATGTGCATTGTCACTGTGCTGAGTCACGGGCTGCGGAGCGGGGGTGGAGTAGGAGATGTACTCAGGAAGCCGTCCAAAGAGGTAAATTAATCCCGAGGGGAAGGAAGGGCAAAGGGGGCGGGTGGGGTGGTTGGTGGGAGCACCATGCAGCGGTGTTGAGTGTAAACTGAAGACGCAGAGGAAGAGCTGGGAGTAGGGCTGAGTAGCTGCGGAACTAGCTCATCAGGCTCCTTTCCTCTCTATCACGTGAGGTGGTGCCGCAAAGTCAGCTGCGTGGAAAGGGTTGGCTTTGGCTCTCTGTTCAGTAGACTTAGGGACTGTTTCCATCAGGGTTAGGCCTGATCCACCTGAACGCACAGTGAATATCCCTCCTGGCTGTGTCACACCACACTTGGAGAAGTCGCAATTGAGACAGGGGACATGAAAAGAGATGCAGTTTTCAGTTTAAAAGTTGAATGCCCAATTTAATTTCTACCCAAGTAGATGAGGTCTCACTTGAGCTGTGCCCCAGGCTCCGCAGACCAAAGGGTCGCAAGGGACCCAGACTGATCCAGACACCTCTCTTTTCCAGGAACCCCTGTTTGCTGCTAGAGTTATTTATGACCTCTTGTTCTTCTTCATGGTCATCATCATTGTTCTTAACCTGATTTTTGAGGTTATCATTGACACTTTTGCTGACCTGAGGAGTGAGAAGCAGAAGAAGGAAGAGATCTTGAAGACCACGTGCTTTATCTGTGGTGAGTGTCGCTGGCCAGCTCCAGCAAGGGCGTGAAGGCCCAGCGTGGCAGAGGCATGTGGATACTGCGAGGGTGTGATGGGCGGGGTGCCTGCCCAGTTATGCGGGAGGGGGCACCGGCTGCTGCTTCGTCTTGACTCTTCTACCCTCTGCCGTGAGTGAGGCTCTCCTTGGCCTTTATTCTGCTGGGAAGTATTTACAGACCTGGGTTCTGACTGAGCTTCTACCACTTAACTAACTGTGTAACATCATTTAGTCATTTAACATCTTTAATCCTTCTTTCTTCATCTGTAAAATGGGTACAATAACATGTCCTTCTCTGCATTATTGTGAGAATTATGAGAGACAGCGTATGTAACACTCCTAGCTAGAACCTGGCACACTATAGGCACGGGAGGAGAAGTAGTGAACGGCTACGTAAAAGAGGTGCATGGACACCAAACAAATCATTTTCAGTATAACTACAGGAAAATATTTGTAAATGTAAACTAATCATGGAGGAATCTGGGGAGCTGAGTAATCATTTCAGGATTATTCATAATATAGCTACTAAATATATAAATTTCCTAGTGGTATGTATGCTAAAAAAAAAGATCAGTTTCCAATTAAAGACTTAAATTCTTTGCTTTTTGCCCCCTTAAAACCTTTTTAAGCTTTTTGCTTTGGCATAATTTCAGAGTTATAGAAAAGACATGACTATCCAAAGAATTTCTATATATTCTTCACCCAGAATCCCCAAATATTAATATTTTATCTCATTTGCTTTATACACACACACACACACACACACACACACACATTTTCTAATGTGAGTGGCTGACAGTGATGCTTTCTTATCCCTAAATATTTTAGTACACATTTCCTAAAAACAAGAACATTCTCTTGTGTATCTACAGTATAATTATCAAAATTGGGAAATTAAAACAGATCCAATACTGTTATCTCATCTACAGACCTTATTCAAATTTCACCCTTCATTCCAATAATGTCCTTTGCAAATCCCACCTCCTGCGGGGCTTCAGTCACCATGCCTCGTGAGCCTCCGCTGACACTGTTGAAGAATGTAGGTCAATTATTTTGTAGAATGTCCCTTGATTTGAGTTTGTCTGATGTTTGCTCATGGTAAGATTGAGGGTATGTATTTTCCACAGGAATATCAAAGACATGCTGTTGTGTTCTTCTCATTGCATCGTATCAGGAGGCATGTAATGCCAGTTCATCTTGTAACTAGTATCTCGGCTCACTGTAACCTCCACCTCCCAGGGTTCAAGCAATTCTCGTGCTTCAGCCACCTGAGTAGCTAGGATTACAGGTGCCTCTCACCACAACTGGCTGATTTTTTGTATTTGAGTAGAGATGGGATTTCACTATGTTGCTGAGAGGCTGGTCTTGAACTACTGAGCTCAGGCAATCTGCCCGTTTTAGCTTCCCAAAGTGTTAGGATTACAGGCATGAGCCACTGCGCCCAGCCGTGATACTAACGTTGATCATTTGGTTAAGGTGCTAATTGCCAGGTTTTTCCAGTAACTCCATAAAGTTACTTTTTTGGAGAGACACTCTGTAAATATCGTGCTATTCCTTAAACTTTCACCCCTCAGCTTTAGCATTCATTGATGATGCTTGGCTAACTCTATTATGATGATGGTTGCCCAATGATGATTTTTATGTTATTATTATTTCTACATTTCTTTATTGGCTTTTTATTGTAAGAAAGAATTTTTTCTTCTCCCCACATATGTGTTTATATTTCTGTGTTTGTATTTGTAACTACATGGACTTGTGGATTTTTATTTTATTCAATGGGCTATTTATTTTGATGTTCAAATTGCTTCAGATGTGGCCAGTGAGAGCCCTTTCCAGCTGACTCCTGGGTTTAGTCATGTCATCATCGTTTTCTATGTACTTTCTTACTTTTTTGGCATCATAATATATTCCAGGCTTAGGCTCACCTTGTACATTTCCTGA
Task1_train_5892
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?
Pathogenic; Gillespie syndrome
ATATGCTGCCAGATTGTTCATCATAAAATTTCCTTCTCTCTCCCAGAAACCGGCGAGAGTTTGGCAAGCGAGTTCCTGTTCTCCGATGTGTGTAGGGTGGAGAGTGGGGAGAACTGCTCCTCTCCTGCACCCAGAGAAGGTAGGACCTCCTAACTGTAAGCCCCATGTTAATATCGGACTCCTCCAGAGGCTTAGCTGATGCAGGTGATGTTGGAAGAAGATTAAATTTACTGCTCAGGAGTAAGGCTATAGCAAAGGGGAAAGGCTGAGAAAGAGGAGGGAGATGAAGGGAAAAGAAGGTTACACCTGAAGAAAAGATCTGATGTGATTCAGCCGATTTATACTGAGTGCCCGCCATTTGCCAGGGACTGTGGTGTACTCTAAGAGACAGTAATGTAGTGGAGGGTGCGGGCAGGCCAAATGGTGATTGCTAGAGAGTTGCCCAATGCTGGGAATAAGGATGGAATACAGAAGTTAGGCACCCGGCCTACTACTGGGCTAAGCGTATCATCAAGAAAGTGATATCCAAACTATAAAAGGAGACTCTTGATATTCCAAGGAGAGGGAATAGTACATCTAAAGGCTTTAAAGGTAAAAAGAAAAAAACAGCAAGTTTGGGGAGATAATGATTATAAGGAAGGAGAGTGGCAAGAAATGAAGCCACAGATACAAACAAAGGGCTAGATCATGAAGGATCTTCTATGTCAGGCGTAGGAGGTTAAACTTCGTCCAGAGGATGGTCAGGGGTTGTTGGAAGATGAGTGATGAAATCTGTGTTTTAGCAAGACCCTCTGCAGCTGGAGAAAGGAATGAGGCACACAGCAAGGCATGGCTCTTACTGCATAAACCAGTGAGAATGAACAGCCTCCAATGTAAAGCAGTTGATCCAGAGGCCCTGCCGTGAAATATCCCTGGATATAGTCCTCACACCATTCCCAGTGAGGAACCTGTGTCCTGTGGCATAACCCTCATCTGAGAGACAAGAGGCCTGTGACTCAGAGTTGCGAAGCAACTCATCTGACATGAAAAGACTGTTTGCGGCTGGGTCTGGGGTTTAAAACCTGAAAAGGACAGGGCATGTTTTAGATCCCACAGAGGGAGAGCAATACTACCATAGCTGGAGAAATTAGCGGGGGTTAGCGATGAAAACAGTTGCCCCAGACGACTTTAGCTTTTGAAAGAAAATAAGAAAATTCTTGGCTCTTGATTCCTTAATTTTATTCTTTCGTGTGCCTGGTGAGATGGCATTCAGGAAACAGGATTTCAAAATCCCGGTCTCTCTTTTCTCCTCACGTTTTCTCTCTGTTGTTACTTGCCGTGTTCACAGAGCTGGTCCCTGCAGAAGAGACGGAACAGGATAAAGAGCACACATGTGAGACGCTGCTGATGTGCATTGTCACTGTGCTGAGTCACGGGCTGCGGAGCGGGGGTGGAGTAGGAGATGTACTCAGGAAGCCGTCCAAAGAGGTAAATTAATCCCGAGGGGAAGGAAGGGCAAAGGGGGCGGGTGGGGTGGTTGGTGGGAGCACCATGCAGCGGTGTTGAGTGTAAACTGAAGACGCAGAGGAAGAGCTGGGAGTAGGGCTGAGTAGCTGCGGAACTAGCTCATCAGGCTCCTTTCCTCTCTATCACGTGAGGTGGTGCCGCAAAGTCAGCTGCGTGGAAAGGGTTGGCTTTGGCTCTCTGTTCAGTAGACTTAGGGACTGTTTCCATCAGGGTTAGGCCTGATCCACCTGAACGCACAGTGAATATCCCTCCTGGCTGTGTCACACCACACTTGGAGAAGTCGCAATTGAGACAGGGGACATGAAAAGAGATGCAGTTTTCAGTTTAAAAGTTGAATGCCCAATTTAATTTCTACCCAAGTAGATGAGGTCTCACTTGAGCTGTGCCCCAGGCTCCGCAGACCAAAGGGTCGCAAGGGACCCAGACTGATCCAGACACCTCTCTTTTCCAGGAACCCCTGTTTGCTGCTAGAGTTATTTATGACCTCTTGTTCTTCTTCATGGTCATCATCATTGTTCTTAACCTGATTTTTGGGGTTATCATTGACACTTTTGCTGACCTGAGGAGTGAGAAGCAGAAGAAGGAAGAGATCTTGAAGACCACGTGCTTTATCTGTGGTGAGTGTCGCTGGCCAGCTCCAGCAAGGGCGTGAAGGCCCAGCGTGGCAGAGGCATGTGGATACTGCGAGGGTGTGATGGGCGGGGTGCCTGCCCAGTTATGCGGGAGGGGGCACCGGCTGCTGCTTCGTCTTGACTCTTCTACCCTCTGCCGTGAGTGAGGCTCTCCTTGGCCTTTATTCTGCTGGGAAGTATTTACAGACCTGGGTTCTGACTGAGCTTCTACCACTTAACTAACTGTGTAACATCATTTAGTCATTTAACATCTTTAATCCTTCTTTCTTCATCTGTAAAATGGGTACAATAACATGTCCTTCTCTGCATTATTGTGAGAATTATGAGAGACAGCGTATGTAACACTCCTAGCTAGAACCTGGCACACTATAGGCACGGGAGGAGAAGTAGTGAACGGCTACGTAAAAGAGGTGCATGGACACCAAACAAATCATTTTCAGTATAACTACAGGAAAATATTTGTAAATGTAAACTAATCATGGAGGAATCTGGGGAGCTGAGTAATCATTTCAGGATTATTCATAATATAGCTACTAAATATATAAATTTCCTAGTGGTATGTATGCTAAAAAAAAAGATCAGTTTCCAATTAAAGACTTAAATTCTTTGCTTTTTGCCCCCTTAAAACCTTTTTAAGCTTTTTGCTTTGGCATAATTTCAGAGTTATAGAAAAGACATGACTATCCAAAGAATTTCTATATATTCTTCACCCAGAATCCCCAAATATTAATATTTTATCTCATTTGCTTTATACACACACACACACACACACACACACACACATTTTCTAATGTGAGTGGCTGACAGTGATGCTTTCTTATCCCTAAATATTTTAGTACACATTTCCTAAAAACAAGAACATTCTCTTGTGTATCTACAGTATAATTATCAAAATTGGGAAATTAAAACAGATCCAATACTGTTATCTCATCTACAGACCTTATTCAAATTTCACCCTTCATTCCAATAATGTCCTTTGCAAATCCCACCTCCTGCGGGGCTTCAGTCACCATGCCTCGTGAGCCTCCGCTGACACTGTTGAAGAATGTAGGTCAATTATTTTGTAGAATGTCCCTTGATTTGAGTTTGTCTGATGTTTGCTCATGGTAAGATTGAGGGTATGTATTTTCCACAGGAATATCAAAGACATGCTGTTGTGTTCTTCTCATTGCATCGTATCAGGAGGCATGTAATGCCAGTTCATCTTGTAACTAGTATCTCGGCTCACTGTAACCTCCACCTCCCAGGGTTCAAGCAATTCTCGTGCTTCAGCCACCTGAGTAGCTAGGATTACAGGTGCCTCTCACCACAACTGGCTGATTTTTTGTATTTGAGTAGAGATGGGATTTCACTATGTTGCTGAGAGGCTGGTCTTGAACTACTGAGCTCAGGCAATCTGCCCGTTTTAGCTTCCCAAAGTGTTAGGATTACAGGCATGAGCCACTGCGCCCAGCCGTGATACTAACGTTGATCATTTGGTTAAGGTGCTAATTGCCAGGTTTTTCCAGTAACTCCATAAAGTTACTTTTTTGGAGAGACACTCTGTAAATATCGTGCTATTCCTTAAACTTTCACCCCTCAGCTTTAGCATTCATTGATGATGCTTGGCTAACTCTATTATGATGATGGTTGCCCAATGATGATTTTTATGTTATTATTATTTCTACATTTCTTTATTGGCTTTTTATTGTAAGAAAGAATTTTTTCTTCTCCCCACATATGTGTTTATATTTCTGTGTTTGTATTTGTAACTACATGGACTTGTGGATTTTTATTTTATTCAATGGGCTATTTATTTTGATGTTCAAATTGCTTCAGATGTGGCCAGTGAGAGCCCTTTCCAGCTGACTCCTGGGTTTAGTCATGTCATCATCGTTTTCTATGTACTTTCTTACTTTTTTGGCATCATAATATATTCCAGGCTTAGGCTCACCTTGTACATTTCCTGAGCCATCCCT
ATATGCTGCCAGATTGTTCATCATAAAATTTCCTTCTCTCTCCCAGAAACCGGCGAGAGTTTGGCAAGCGAGTTCCTGTTCTCCGATGTGTGTAGGGTGGAGAGTGGGGAGAACTGCTCCTCTCCTGCACCCAGAGAAGGTAGGACCTCCTAACTGTAAGCCCCATGTTAATATCGGACTCCTCCAGAGGCTTAGCTGATGCAGGTGATGTTGGAAGAAGATTAAATTTACTGCTCAGGAGTAAGGCTATAGCAAAGGGGAAAGGCTGAGAAAGAGGAGGGAGATGAAGGGAAAAGAAGGTTACACCTGAAGAAAAGATCTGATGTGATTCAGCCGATTTATACTGAGTGCCCGCCATTTGCCAGGGACTGTGGTGTACTCTAAGAGACAGTAATGTAGTGGAGGGTGCGGGCAGGCCAAATGGTGATTGCTAGAGAGTTGCCCAATGCTGGGAATAAGGATGGAATACAGAAGTTAGGCACCCGGCCTACTACTGGGCTAAGCGTATCATCAAGAAAGTGATATCCAAACTATAAAAGGAGACTCTTGATATTCCAAGGAGAGGGAATAGTACATCTAAAGGCTTTAAAGGTAAAAAGAAAAAAACAGCAAGTTTGGGGAGATAATGATTATAAGGAAGGAGAGTGGCAAGAAATGAAGCCACAGATACAAACAAAGGGCTAGATCATGAAGGATCTTCTATGTCAGGCGTAGGAGGTTAAACTTCGTCCAGAGGATGGTCAGGGGTTGTTGGAAGATGAGTGATGAAATCTGTGTTTTAGCAAGACCCTCTGCAGCTGGAGAAAGGAATGAGGCACACAGCAAGGCATGGCTCTTACTGCATAAACCAGTGAGAATGAACAGCCTCCAATGTAAAGCAGTTGATCCAGAGGCCCTGCCGTGAAATATCCCTGGATATAGTCCTCACACCATTCCCAGTGAGGAACCTGTGTCCTGTGGCATAACCCTCATCTGAGAGACAAGAGGCCTGTGACTCAGAGTTGCGAAGCAACTCATCTGACATGAAAAGACTGTTTGCGGCTGGGTCTGGGGTTTAAAACCTGAAAAGGACAGGGCATGTTTTAGATCCCACAGAGGGAGAGCAATACTACCATAGCTGGAGAAATTAGCGGGGGTTAGCGATGAAAACAGTTGCCCCAGACGACTTTAGCTTTTGAAAGAAAATAAGAAAATTCTTGGCTCTTGATTCCTTAATTTTATTCTTTCGTGTGCCTGGTGAGATGGCATTCAGGAAACAGGATTTCAAAATCCCGGTCTCTCTTTTCTCCTCACGTTTTCTCTCTGTTGTTACTTGCCGTGTTCACAGAGCTGGTCCCTGCAGAAGAGACGGAACAGGATAAAGAGCACACATGTGAGACGCTGCTGATGTGCATTGTCACTGTGCTGAGTCACGGGCTGCGGAGCGGGGGTGGAGTAGGAGATGTACTCAGGAAGCCGTCCAAAGAGGTAAATTAATCCCGAGGGGAAGGAAGGGCAAAGGGGGCGGGTGGGGTGGTTGGTGGGAGCACCATGCAGCGGTGTTGAGTGTAAACTGAAGACGCAGAGGAAGAGCTGGGAGTAGGGCTGAGTAGCTGCGGAACTAGCTCATCAGGCTCCTTTCCTCTCTATCACGTGAGGTGGTGCCGCAAAGTCAGCTGCGTGGAAAGGGTTGGCTTTGGCTCTCTGTTCAGTAGACTTAGGGACTGTTTCCATCAGGGTTAGGCCTGATCCACCTGAACGCACAGTGAATATCCCTCCTGGCTGTGTCACACCACACTTGGAGAAGTCGCAATTGAGACAGGGGACATGAAAAGAGATGCAGTTTTCAGTTTAAAAGTTGAATGCCCAATTTAATTTCTACCCAAGTAGATGAGGTCTCACTTGAGCTGTGCCCCAGGCTCCGCAGACCAAAGGGTCGCAAGGGACCCAGACTGATCCAGACACCTCTCTTTTCCAGGAACCCCTGTTTGCTGCTAGAGTTATTTATGACCTCTTGTTCTTCTTCATGGTCATCATCATTGTTCTTAACCTGATTTTTGGGGTTATCAATGACACTTTTGCTGACCTGAGGAGTGAGAAGCAGAAGAAGGAAGAGATCTTGAAGACCACGTGCTTTATCTGTGGTGAGTGTCGCTGGCCAGCTCCAGCAAGGGCGTGAAGGCCCAGCGTGGCAGAGGCATGTGGATACTGCGAGGGTGTGATGGGCGGGGTGCCTGCCCAGTTATGCGGGAGGGGGCACCGGCTGCTGCTTCGTCTTGACTCTTCTACCCTCTGCCGTGAGTGAGGCTCTCCTTGGCCTTTATTCTGCTGGGAAGTATTTACAGACCTGGGTTCTGACTGAGCTTCTACCACTTAACTAACTGTGTAACATCATTTAGTCATTTAACATCTTTAATCCTTCTTTCTTCATCTGTAAAATGGGTACAATAACATGTCCTTCTCTGCATTATTGTGAGAATTATGAGAGACAGCGTATGTAACACTCCTAGCTAGAACCTGGCACACTATAGGCACGGGAGGAGAAGTAGTGAACGGCTACGTAAAAGAGGTGCATGGACACCAAACAAATCATTTTCAGTATAACTACAGGAAAATATTTGTAAATGTAAACTAATCATGGAGGAATCTGGGGAGCTGAGTAATCATTTCAGGATTATTCATAATATAGCTACTAAATATATAAATTTCCTAGTGGTATGTATGCTAAAAAAAAAGATCAGTTTCCAATTAAAGACTTAAATTCTTTGCTTTTTGCCCCCTTAAAACCTTTTTAAGCTTTTTGCTTTGGCATAATTTCAGAGTTATAGAAAAGACATGACTATCCAAAGAATTTCTATATATTCTTCACCCAGAATCCCCAAATATTAATATTTTATCTCATTTGCTTTATACACACACACACACACACACACACACACACATTTTCTAATGTGAGTGGCTGACAGTGATGCTTTCTTATCCCTAAATATTTTAGTACACATTTCCTAAAAACAAGAACATTCTCTTGTGTATCTACAGTATAATTATCAAAATTGGGAAATTAAAACAGATCCAATACTGTTATCTCATCTACAGACCTTATTCAAATTTCACCCTTCATTCCAATAATGTCCTTTGCAAATCCCACCTCCTGCGGGGCTTCAGTCACCATGCCTCGTGAGCCTCCGCTGACACTGTTGAAGAATGTAGGTCAATTATTTTGTAGAATGTCCCTTGATTTGAGTTTGTCTGATGTTTGCTCATGGTAAGATTGAGGGTATGTATTTTCCACAGGAATATCAAAGACATGCTGTTGTGTTCTTCTCATTGCATCGTATCAGGAGGCATGTAATGCCAGTTCATCTTGTAACTAGTATCTCGGCTCACTGTAACCTCCACCTCCCAGGGTTCAAGCAATTCTCGTGCTTCAGCCACCTGAGTAGCTAGGATTACAGGTGCCTCTCACCACAACTGGCTGATTTTTTGTATTTGAGTAGAGATGGGATTTCACTATGTTGCTGAGAGGCTGGTCTTGAACTACTGAGCTCAGGCAATCTGCCCGTTTTAGCTTCCCAAAGTGTTAGGATTACAGGCATGAGCCACTGCGCCCAGCCGTGATACTAACGTTGATCATTTGGTTAAGGTGCTAATTGCCAGGTTTTTCCAGTAACTCCATAAAGTTACTTTTTTGGAGAGACACTCTGTAAATATCGTGCTATTCCTTAAACTTTCACCCCTCAGCTTTAGCATTCATTGATGATGCTTGGCTAACTCTATTATGATGATGGTTGCCCAATGATGATTTTTATGTTATTATTATTTCTACATTTCTTTATTGGCTTTTTATTGTAAGAAAGAATTTTTTCTTCTCCCCACATATGTGTTTATATTTCTGTGTTTGTATTTGTAACTACATGGACTTGTGGATTTTTATTTTATTCAATGGGCTATTTATTTTGATGTTCAAATTGCTTCAGATGTGGCCAGTGAGAGCCCTTTCCAGCTGACTCCTGGGTTTAGTCATGTCATCATCGTTTTCTATGTACTTTCTTACTTTTTTGGCATCATAATATATTCCAGGCTTAGGCTCACCTTGTACATTTCCTGAGCCATCCCT
Task1_train_5893
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?
Pathogenic; Gillespie syndrome
AGATTGTTCATCATAAAATTTCCTTCTCTCTCCCAGAAACCGGCGAGAGTTTGGCAAGCGAGTTCCTGTTCTCCGATGTGTGTAGGGTGGAGAGTGGGGAGAACTGCTCCTCTCCTGCACCCAGAGAAGGTAGGACCTCCTAACTGTAAGCCCCATGTTAATATCGGACTCCTCCAGAGGCTTAGCTGATGCAGGTGATGTTGGAAGAAGATTAAATTTACTGCTCAGGAGTAAGGCTATAGCAAAGGGGAAAGGCTGAGAAAGAGGAGGGAGATGAAGGGAAAAGAAGGTTACACCTGAAGAAAAGATCTGATGTGATTCAGCCGATTTATACTGAGTGCCCGCCATTTGCCAGGGACTGTGGTGTACTCTAAGAGACAGTAATGTAGTGGAGGGTGCGGGCAGGCCAAATGGTGATTGCTAGAGAGTTGCCCAATGCTGGGAATAAGGATGGAATACAGAAGTTAGGCACCCGGCCTACTACTGGGCTAAGCGTATCATCAAGAAAGTGATATCCAAACTATAAAAGGAGACTCTTGATATTCCAAGGAGAGGGAATAGTACATCTAAAGGCTTTAAAGGTAAAAAGAAAAAAACAGCAAGTTTGGGGAGATAATGATTATAAGGAAGGAGAGTGGCAAGAAATGAAGCCACAGATACAAACAAAGGGCTAGATCATGAAGGATCTTCTATGTCAGGCGTAGGAGGTTAAACTTCGTCCAGAGGATGGTCAGGGGTTGTTGGAAGATGAGTGATGAAATCTGTGTTTTAGCAAGACCCTCTGCAGCTGGAGAAAGGAATGAGGCACACAGCAAGGCATGGCTCTTACTGCATAAACCAGTGAGAATGAACAGCCTCCAATGTAAAGCAGTTGATCCAGAGGCCCTGCCGTGAAATATCCCTGGATATAGTCCTCACACCATTCCCAGTGAGGAACCTGTGTCCTGTGGCATAACCCTCATCTGAGAGACAAGAGGCCTGTGACTCAGAGTTGCGAAGCAACTCATCTGACATGAAAAGACTGTTTGCGGCTGGGTCTGGGGTTTAAAACCTGAAAAGGACAGGGCATGTTTTAGATCCCACAGAGGGAGAGCAATACTACCATAGCTGGAGAAATTAGCGGGGGTTAGCGATGAAAACAGTTGCCCCAGACGACTTTAGCTTTTGAAAGAAAATAAGAAAATTCTTGGCTCTTGATTCCTTAATTTTATTCTTTCGTGTGCCTGGTGAGATGGCATTCAGGAAACAGGATTTCAAAATCCCGGTCTCTCTTTTCTCCTCACGTTTTCTCTCTGTTGTTACTTGCCGTGTTCACAGAGCTGGTCCCTGCAGAAGAGACGGAACAGGATAAAGAGCACACATGTGAGACGCTGCTGATGTGCATTGTCACTGTGCTGAGTCACGGGCTGCGGAGCGGGGGTGGAGTAGGAGATGTACTCAGGAAGCCGTCCAAAGAGGTAAATTAATCCCGAGGGGAAGGAAGGGCAAAGGGGGCGGGTGGGGTGGTTGGTGGGAGCACCATGCAGCGGTGTTGAGTGTAAACTGAAGACGCAGAGGAAGAGCTGGGAGTAGGGCTGAGTAGCTGCGGAACTAGCTCATCAGGCTCCTTTCCTCTCTATCACGTGAGGTGGTGCCGCAAAGTCAGCTGCGTGGAAAGGGTTGGCTTTGGCTCTCTGTTCAGTAGACTTAGGGACTGTTTCCATCAGGGTTAGGCCTGATCCACCTGAACGCACAGTGAATATCCCTCCTGGCTGTGTCACACCACACTTGGAGAAGTCGCAATTGAGACAGGGGACATGAAAAGAGATGCAGTTTTCAGTTTAAAAGTTGAATGCCCAATTTAATTTCTACCCAAGTAGATGAGGTCTCACTTGAGCTGTGCCCCAGGCTCCGCAGACCAAAGGGTCGCAAGGGACCCAGACTGATCCAGACACCTCTCTTTTCCAGGAACCCCTGTTTGCTGCTAGAGTTATTTATGACCTCTTGTTCTTCTTCATGGTCATCATCATTGTTCTTAACCTGATTTTTGGGGTTATCATTGACACTTTTGCTGACCTGAGGAGTGAGAAGCAGAAGAAGGAAGAGATCTTGAAGACCACGTGCTTTATCTGTGGTGAGTGTCGCTGGCCAGCTCCAGCAAGGGCGTGAAGGCCCAGCGTGGCAGAGGCATGTGGATACTGCGAGGGTGTGATGGGCGGGGTGCCTGCCCAGTTATGCGGGAGGGGGCACCGGCTGCTGCTTCGTCTTGACTCTTCTACCCTCTGCCGTGAGTGAGGCTCTCCTTGGCCTTTATTCTGCTGGGAAGTATTTACAGACCTGGGTTCTGACTGAGCTTCTACCACTTAACTAACTGTGTAACATCATTTAGTCATTTAACATCTTTAATCCTTCTTTCTTCATCTGTAAAATGGGTACAATAACATGTCCTTCTCTGCATTATTGTGAGAATTATGAGAGACAGCGTATGTAACACTCCTAGCTAGAACCTGGCACACTATAGGCACGGGAGGAGAAGTAGTGAACGGCTACGTAAAAGAGGTGCATGGACACCAAACAAATCATTTTCAGTATAACTACAGGAAAATATTTGTAAATGTAAACTAATCATGGAGGAATCTGGGGAGCTGAGTAATCATTTCAGGATTATTCATAATATAGCTACTAAATATATAAATTTCCTAGTGGTATGTATGCTAAAAAAAAAGATCAGTTTCCAATTAAAGACTTAAATTCTTTGCTTTTTGCCCCCTTAAAACCTTTTTAAGCTTTTTGCTTTGGCATAATTTCAGAGTTATAGAAAAGACATGACTATCCAAAGAATTTCTATATATTCTTCACCCAGAATCCCCAAATATTAATATTTTATCTCATTTGCTTTATACACACACACACACACACACACACACACACATTTTCTAATGTGAGTGGCTGACAGTGATGCTTTCTTATCCCTAAATATTTTAGTACACATTTCCTAAAAACAAGAACATTCTCTTGTGTATCTACAGTATAATTATCAAAATTGGGAAATTAAAACAGATCCAATACTGTTATCTCATCTACAGACCTTATTCAAATTTCACCCTTCATTCCAATAATGTCCTTTGCAAATCCCACCTCCTGCGGGGCTTCAGTCACCATGCCTCGTGAGCCTCCGCTGACACTGTTGAAGAATGTAGGTCAATTATTTTGTAGAATGTCCCTTGATTTGAGTTTGTCTGATGTTTGCTCATGGTAAGATTGAGGGTATGTATTTTCCACAGGAATATCAAAGACATGCTGTTGTGTTCTTCTCATTGCATCGTATCAGGAGGCATGTAATGCCAGTTCATCTTGTAACTAGTATCTCGGCTCACTGTAACCTCCACCTCCCAGGGTTCAAGCAATTCTCGTGCTTCAGCCACCTGAGTAGCTAGGATTACAGGTGCCTCTCACCACAACTGGCTGATTTTTTGTATTTGAGTAGAGATGGGATTTCACTATGTTGCTGAGAGGCTGGTCTTGAACTACTGAGCTCAGGCAATCTGCCCGTTTTAGCTTCCCAAAGTGTTAGGATTACAGGCATGAGCCACTGCGCCCAGCCGTGATACTAACGTTGATCATTTGGTTAAGGTGCTAATTGCCAGGTTTTTCCAGTAACTCCATAAAGTTACTTTTTTGGAGAGACACTCTGTAAATATCGTGCTATTCCTTAAACTTTCACCCCTCAGCTTTAGCATTCATTGATGATGCTTGGCTAACTCTATTATGATGATGGTTGCCCAATGATGATTTTTATGTTATTATTATTTCTACATTTCTTTATTGGCTTTTTATTGTAAGAAAGAATTTTTTCTTCTCCCCACATATGTGTTTATATTTCTGTGTTTGTATTTGTAACTACATGGACTTGTGGATTTTTATTTTATTCAATGGGCTATTTATTTTGATGTTCAAATTGCTTCAGATGTGGCCAGTGAGAGCCCTTTCCAGCTGACTCCTGGGTTTAGTCATGTCATCATCGTTTTCTATGTACTTTCTTACTTTTTTGGCATCATAATATATTCCAGGCTTAGGCTCACCTTGTACATTTCCTGAGCCATCCCTGGAATCAGCC
AGATTGTTCATCATAAAATTTCCTTCTCTCTCCCAGAAACCGGCGAGAGTTTGGCAAGCGAGTTCCTGTTCTCCGATGTGTGTAGGGTGGAGAGTGGGGAGAACTGCTCCTCTCCTGCACCCAGAGAAGGTAGGACCTCCTAACTGTAAGCCCCATGTTAATATCGGACTCCTCCAGAGGCTTAGCTGATGCAGGTGATGTTGGAAGAAGATTAAATTTACTGCTCAGGAGTAAGGCTATAGCAAAGGGGAAAGGCTGAGAAAGAGGAGGGAGATGAAGGGAAAAGAAGGTTACACCTGAAGAAAAGATCTGATGTGATTCAGCCGATTTATACTGAGTGCCCGCCATTTGCCAGGGACTGTGGTGTACTCTAAGAGACAGTAATGTAGTGGAGGGTGCGGGCAGGCCAAATGGTGATTGCTAGAGAGTTGCCCAATGCTGGGAATAAGGATGGAATACAGAAGTTAGGCACCCGGCCTACTACTGGGCTAAGCGTATCATCAAGAAAGTGATATCCAAACTATAAAAGGAGACTCTTGATATTCCAAGGAGAGGGAATAGTACATCTAAAGGCTTTAAAGGTAAAAAGAAAAAAACAGCAAGTTTGGGGAGATAATGATTATAAGGAAGGAGAGTGGCAAGAAATGAAGCCACAGATACAAACAAAGGGCTAGATCATGAAGGATCTTCTATGTCAGGCGTAGGAGGTTAAACTTCGTCCAGAGGATGGTCAGGGGTTGTTGGAAGATGAGTGATGAAATCTGTGTTTTAGCAAGACCCTCTGCAGCTGGAGAAAGGAATGAGGCACACAGCAAGGCATGGCTCTTACTGCATAAACCAGTGAGAATGAACAGCCTCCAATGTAAAGCAGTTGATCCAGAGGCCCTGCCGTGAAATATCCCTGGATATAGTCCTCACACCATTCCCAGTGAGGAACCTGTGTCCTGTGGCATAACCCTCATCTGAGAGACAAGAGGCCTGTGACTCAGAGTTGCGAAGCAACTCATCTGACATGAAAAGACTGTTTGCGGCTGGGTCTGGGGTTTAAAACCTGAAAAGGACAGGGCATGTTTTAGATCCCACAGAGGGAGAGCAATACTACCATAGCTGGAGAAATTAGCGGGGGTTAGCGATGAAAACAGTTGCCCCAGACGACTTTAGCTTTTGAAAGAAAATAAGAAAATTCTTGGCTCTTGATTCCTTAATTTTATTCTTTCGTGTGCCTGGTGAGATGGCATTCAGGAAACAGGATTTCAAAATCCCGGTCTCTCTTTTCTCCTCACGTTTTCTCTCTGTTGTTACTTGCCGTGTTCACAGAGCTGGTCCCTGCAGAAGAGACGGAACAGGATAAAGAGCACACATGTGAGACGCTGCTGATGTGCATTGTCACTGTGCTGAGTCACGGGCTGCGGAGCGGGGGTGGAGTAGGAGATGTACTCAGGAAGCCGTCCAAAGAGGTAAATTAATCCCGAGGGGAAGGAAGGGCAAAGGGGGCGGGTGGGGTGGTTGGTGGGAGCACCATGCAGCGGTGTTGAGTGTAAACTGAAGACGCAGAGGAAGAGCTGGGAGTAGGGCTGAGTAGCTGCGGAACTAGCTCATCAGGCTCCTTTCCTCTCTATCACGTGAGGTGGTGCCGCAAAGTCAGCTGCGTGGAAAGGGTTGGCTTTGGCTCTCTGTTCAGTAGACTTAGGGACTGTTTCCATCAGGGTTAGGCCTGATCCACCTGAACGCACAGTGAATATCCCTCCTGGCTGTGTCACACCACACTTGGAGAAGTCGCAATTGAGACAGGGGACATGAAAAGAGATGCAGTTTTCAGTTTAAAAGTTGAATGCCCAATTTAATTTCTACCCAAGTAGATGAGGTCTCACTTGAGCTGTGCCCCAGGCTCCGCAGACCAAAGGGTCGCAAGGGACCCAGACTGATCCAGACACCTCTCTTTTCCAGGAACCCCTGTTTGCTGCTAGAGTTATTTATGACCTCTTGTTCTTCTTCATGGTCATCATCATTGTTCTTAACCTGATTTTTGGGGTTATCATTGACACTTTGGCTGACCTGAGGAGTGAGAAGCAGAAGAAGGAAGAGATCTTGAAGACCACGTGCTTTATCTGTGGTGAGTGTCGCTGGCCAGCTCCAGCAAGGGCGTGAAGGCCCAGCGTGGCAGAGGCATGTGGATACTGCGAGGGTGTGATGGGCGGGGTGCCTGCCCAGTTATGCGGGAGGGGGCACCGGCTGCTGCTTCGTCTTGACTCTTCTACCCTCTGCCGTGAGTGAGGCTCTCCTTGGCCTTTATTCTGCTGGGAAGTATTTACAGACCTGGGTTCTGACTGAGCTTCTACCACTTAACTAACTGTGTAACATCATTTAGTCATTTAACATCTTTAATCCTTCTTTCTTCATCTGTAAAATGGGTACAATAACATGTCCTTCTCTGCATTATTGTGAGAATTATGAGAGACAGCGTATGTAACACTCCTAGCTAGAACCTGGCACACTATAGGCACGGGAGGAGAAGTAGTGAACGGCTACGTAAAAGAGGTGCATGGACACCAAACAAATCATTTTCAGTATAACTACAGGAAAATATTTGTAAATGTAAACTAATCATGGAGGAATCTGGGGAGCTGAGTAATCATTTCAGGATTATTCATAATATAGCTACTAAATATATAAATTTCCTAGTGGTATGTATGCTAAAAAAAAAGATCAGTTTCCAATTAAAGACTTAAATTCTTTGCTTTTTGCCCCCTTAAAACCTTTTTAAGCTTTTTGCTTTGGCATAATTTCAGAGTTATAGAAAAGACATGACTATCCAAAGAATTTCTATATATTCTTCACCCAGAATCCCCAAATATTAATATTTTATCTCATTTGCTTTATACACACACACACACACACACACACACACACATTTTCTAATGTGAGTGGCTGACAGTGATGCTTTCTTATCCCTAAATATTTTAGTACACATTTCCTAAAAACAAGAACATTCTCTTGTGTATCTACAGTATAATTATCAAAATTGGGAAATTAAAACAGATCCAATACTGTTATCTCATCTACAGACCTTATTCAAATTTCACCCTTCATTCCAATAATGTCCTTTGCAAATCCCACCTCCTGCGGGGCTTCAGTCACCATGCCTCGTGAGCCTCCGCTGACACTGTTGAAGAATGTAGGTCAATTATTTTGTAGAATGTCCCTTGATTTGAGTTTGTCTGATGTTTGCTCATGGTAAGATTGAGGGTATGTATTTTCCACAGGAATATCAAAGACATGCTGTTGTGTTCTTCTCATTGCATCGTATCAGGAGGCATGTAATGCCAGTTCATCTTGTAACTAGTATCTCGGCTCACTGTAACCTCCACCTCCCAGGGTTCAAGCAATTCTCGTGCTTCAGCCACCTGAGTAGCTAGGATTACAGGTGCCTCTCACCACAACTGGCTGATTTTTTGTATTTGAGTAGAGATGGGATTTCACTATGTTGCTGAGAGGCTGGTCTTGAACTACTGAGCTCAGGCAATCTGCCCGTTTTAGCTTCCCAAAGTGTTAGGATTACAGGCATGAGCCACTGCGCCCAGCCGTGATACTAACGTTGATCATTTGGTTAAGGTGCTAATTGCCAGGTTTTTCCAGTAACTCCATAAAGTTACTTTTTTGGAGAGACACTCTGTAAATATCGTGCTATTCCTTAAACTTTCACCCCTCAGCTTTAGCATTCATTGATGATGCTTGGCTAACTCTATTATGATGATGGTTGCCCAATGATGATTTTTATGTTATTATTATTTCTACATTTCTTTATTGGCTTTTTATTGTAAGAAAGAATTTTTTCTTCTCCCCACATATGTGTTTATATTTCTGTGTTTGTATTTGTAACTACATGGACTTGTGGATTTTTATTTTATTCAATGGGCTATTTATTTTGATGTTCAAATTGCTTCAGATGTGGCCAGTGAGAGCCCTTTCCAGCTGACTCCTGGGTTTAGTCATGTCATCATCGTTTTCTATGTACTTTCTTACTTTTTTGGCATCATAATATATTCCAGGCTTAGGCTCACCTTGTACATTTCCTGAGCCATCCCTGGAATCAGCC
Task1_train_5894
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?
Pathogenic; Bilateral multifocal epileptiform discharges
CAAATGAATAATCATAACAGTATCATTAAGAACCAAGATTGTCCTCATGAGAGAAAGGAAGTAGAGATTTAAGAGTGTCAAGGTTAAGCAAAAACTCTGTAGTCCTGAATTTGAATGGGAAATAGCTGCATAAATTCATGATAAATTTTATCTTTAAAAAAAAATCCTATACTATATACACTGAAAAACCCTAGATCCCGTGACAGGCAGTGAGCATAAAGTTGATTTGGTATTTAAATGAGATACATATAAAACACAACTCTCTGGCATATGAGATATTAATGGTGCTCTGAAATGGAAAAATACAAATTCAAGTAAATTTGGGAAATTCTGAATTTCCCTCTTGGAGGTTACATTTTATGTTATATGTTAAATGTTCTGGAAAAGTCAGTGAAGCAACCTAAAACATTTTAGCACAGTGGCTGTCCGGAACCCTTTGTGTGTTTTGCAGGAAAAGGGGTTGAGGTTGTAGAACTCTTATTGTGAGGTTGTAGAACTCTTATTGTTTCTTCACTACACAAATGTGCCGTAGGAAACAATTTGGAAAATATTGCTGTGAAAGTGAAATGCAATTTGTGGATAATTCTTCTTCATAGAGGGACAAGAGGTCTAGAGAGAGCTACTGGTGTCGTGTACTTAATGAATGCATAATTTAATGCAACAAGTGTTATTTAGTATCTACTGGATGCTAAAGGCTATGTTCAATGGTGGGGATCCAAAGGTAAAAACAAGAAAAATGTCTTGGACACCTGGTAGAGCATTAAAATATGATTCTATATTGACAGTGCTATAAGCAAGATTTGAAATGTTTTACGGGAATGTTGAATTGCGACTGAGCGCCTCGGTGTGACAAACAGTTGGGAATTAAGTATGATGGTGAAAGCAAAGAGGAAGGATCTCCCTGGCAAAGTAAACAGCATGAGCAAAGATAGTTTAACAGCAACAATAGTCACACCTATCTGGAAGAATAAAGGAAAATAAATGTGAGAGGGTAGGCAGGGTCCAGGTAATGAAAAGAATGTGGGCTTTGGGGTCTGACAAGCCTGGGCCATCATCATTGCTCTACCTGTAAATGACCTTTGGAAGGTGATTTAACCTCTATAAGGCTCAGCTTTCCCACTGGTATCATAAGGATAAAAAAAATTACCTCACAAAGTGATGATGACATAAAAATCCCACATCCACAGCTTTCAACACAGTGTGGGCACTTAGTCAATATCAGTTGTTATCATTATTAGGCAGATGGGAGCAAAATGGTAAATATCTACTGTGACCAGTGAAAGGGATCTGGATTTAATCTGTAGTCAGCAGACAGCCATTGAGGGACTCTTAGTGTAGGAATGATGTGACTAGCTCTGTAGTTTGCAAAGGTGAACGTGGAGGAATGAATGGATGAAAGGAGACATTGAGCATTGCACGTGATGGAAAATGGTGGGAGGCATAAAGAGGCCATTGGTGGAGTGTTTGACACTGTTCAGTACTTCACAGGTAGGACTGCTAGAATTCATTAGACTTACATATGTGAGAGCTGGGATTGTGAAAGGGAAGAGAAAGAAAACGGACATCAGTGTTTCTAGCCTGAGCATCTGAATCTCCAGTAATACTAACAATCGAGACAGGCAACAGAGACGGTACAATAGGTGTGTAGAAAGTAATGAATTCAGGTGTGGAATTTAGTTTGTTTTCTGTCATTATCCATTTGACCTTTCTAGAGTAAGCGAGCTTTTCAGGTTCGAATGTGGCAACCCAGCTTCTGATCTCAAAGATCCTTTTATTCTAAGGGACCACTATATTTTGAATAGTATGTAAGGTGTCACAAAGTAAAATACTACAAGCTATTAGAGAAACCTAACATGGTAGCTGGATATGGATACCAACTGGCTATCACGTGGTAGGCAAATGTGGCTTGAATTACTGTATTTATCGAAGCAGTGTTTTCTTTAAGCATAATTGAAAGTTTACTTTTAAATTTGGACATTCTACTCAATGCCAATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTCTTGTTTTAATGTGCAGGACAGGAGAGAATTGGAAAAGATTCCAACTATGAGCAGGAGGGTAAAGTCCAGTTCGTGATTGACGCAGTCTATGCTATGGCTCACGCCCTTCACCACATGAACAAGGATCTCTGTGCTGACTACCGGGGTGTCTGCCCAGAGATGGAGCAAGCTGGAGGCAAGAAGTTGCTGAAGTATATACGCAATGTTAATTTCAATGGTGAGTCTCCAAAAATCCATCCTTTTTGGAATCCTAAGTGTTGGCATTCTGTTTCATAAGTTTTAAATGTCTATTATTATTTACTTTAAAATATGTGTCAAAACTTGCTTGATTATAAAACTTTAAATGATTGAATCAATGCATGAATGAGCAAATGAATGTAAGAATGAGTTAAGATATATTTGGGGGTTATGGTTTGGTCTCATTTTCTTGAAATAGAGATTTTTTTTTTTTTTTTGCACTATGCCAAATTCTTCTTTGGTGAATTTAGGTGGGTATAGGATGGAAGAGGAAGGGAAAGGAGCAGTTGCTGTAGGTACCTCTGAATATGGAAAAACTGAAGTCATTTTTCCTCTGCTCTCATACCACAACAGGAATTCACACAGAAGACTTCTGTGACCAAATGTCAGTGGAGAGGTTTCCCCCACACACCAAGCTAGCAATAAATTCTGCAGTGGACACAAGCTGACTGTCCTCTACTTCAATTCCTACATGATCTATCTGGCATGCTGTGAAACCCCACAAGTTGGAGGCTTAGTTCCCAAGACTCTTCCCCTTGCCACTTGCAATGACAGTGGCAAACCCTAGGTTGTTTTGTCTGGGCTTCTGATGGTCCGGCTATAAACTGGAATTTTCACAATCTCCTCCTCAGGTTTGATTAATTTGCTAGAGCAACTCACAAAACTCAGTAAAACACTTACTTAAATTTATTACAAAAGGTATTTTAAAGGACACAAATAAACCTCCAGATGAAGAGATCCTAGGGCAAAGTCTGAAAGGGTCCTGAGAGTAGGAGTTTCTGTCCTCAGGGATTTGGGGTGTGCTGGCCTCCCCTGCACAAAGATGAGTTCTTGCTCACTTTCCTGTCAGCCTCCATGTGTTCAACTCTGAACCTTGTCCTCTTGGGCCTTTTATGAAGATTTCATTGGAATAGGCATGATCGACAACCACGAAGAAATGTGACTGTACACAAAGGGTATAATCTAATACTAATAGGCTAAGCGGGAATACCTGGTGAGGCCTGTCTGTCCAGATCCTTCTTGGTCTATCTGTGCAACATTTCTTCCTCCAGGATATGGGGCAGGACCCTTCTAAAATGACGGGCTGATAGCGTATTAACAAAAAGGTGGAGGAAGGTTAGAATGCTGCCTTGGGCTGGTAAAAGGAGGGCAGGGTAAGGTCAGAAAGAGAAATTGTTTTCTGAGGCCTAAAGTGCCCCAACATTATAACAAGGGCTATGGTAATTATGAGCCAAGAACCATACATGAAAAGCTACACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCATAAACTAACATCACAATACTCAAGTTAATTGGGATAATATTTGTAATTTGCCACATCAACCATATTTCAAGTTTTAAACATATTTCTCAAAGTACAAAACTCTTTTATAAATTGATAGGTTTCCTAAAAGAGGTGGGTAGAGATAAGTGAAAAAATGGGCCAATAGGATAAAAGACATAGGAGAAAGCACACTCTGATAATGTCTGTTTGAATAGTCTCAACTCTTACAACATCTTAATGTTTCACATGCCAACAGCTAAATAAGTAAACTTGAATGTATGAGCAATGCAACATTCAACACAGACAGTAACAAATAATCATAATTATATTATAAACAAATTGTGTAACTGAAGTGAAGGAGGGTGAGGAAGAAATAATGAATGCAAGTAATTTTGGAAAATAGTATCTGACTATATAAGGCTGAAGACAAAATAACTGTACACATATATTAGACAATATCTAGTAAATCTGTATTTTTCTCACAATTCTGAAGCTAATCTATGTATATAATGGGACTGAGAAAATAATT
CAAATGAATAATCATAACAGTATCATTAAGAACCAAGATTGTCCTCATGAGAGAAAGGAAGTAGAGATTTAAGAGTGTCAAGGTTAAGCAAAAACTCTGTAGTCCTGAATTTGAATGGGAAATAGCTGCATAAATTCATGATAAATTTTATCTTTAAAAAAAAATCCTATACTATATACACTGAAAAACCCTAGATCCCGTGACAGGCAGTGAGCATAAAGTTGATTTGGTATTTAAATGAGATACATATAAAACACAACTCTCTGGCATATGAGATATTAATGGTGCTCTGAAATGGAAAAATACAAATTCAAGTAAATTTGGGAAATTCTGAATTTCCCTCTTGGAGGTTACATTTTATGTTATATGTTAAATGTTCTGGAAAAGTCAGTGAAGCAACCTAAAACATTTTAGCACAGTGGCTGTCCGGAACCCTTTGTGTGTTTTGCAGGAAAAGGGGTTGAGGTTGTAGAACTCTTATTGTGAGGTTGTAGAACTCTTATTGTTTCTTCACTACACAAATGTGCCGTAGGAAACAATTTGGAAAATATTGCTGTGAAAGTGAAATGCAATTTGTGGATAATTCTTCTTCATAGAGGGACAAGAGGTCTAGAGAGAGCTACTGGTGTCGTGTACTTAATGAATGCATAATTTAATGCAACAAGTGTTATTTAGTATCTACTGGATGCTAAAGGCTATGTTCAATGGTGGGGATCCAAAGGTAAAAACAAGAAAAATGTCTTGGACACCTGGTAGAGCATTAAAATATGATTCTATATTGACAGTGCTATAAGCAAGATTTGAAATGTTTTACGGGAATGTTGAATTGCGACTGAGCGCCTCGGTGTGACAAACAGTTGGGAATTAAGTATGATGGTGAAAGCAAAGAGGAAGGATCTCCCTGGCAAAGTAAACAGCATGAGCAAAGATAGTTTAACAGCAACAATAGTCACACCTATCTGGAAGAATAAAGGAAAATAAATGTGAGAGGGTAGGCAGGGTCCAGGTAATGAAAAGAATGTGGGCTTTGGGGTCTGACAAGCCTGGGCCATCATCATTGCTCTACCTGTAAATGACCTTTGGAAGGTGATTTAACCTCTATAAGGCTCAGCTTTCCCACTGGTATCATAAGGATAAAAAAAATTACCTCACAAAGTGATGATGACATAAAAATCCCACATCCACAGCTTTCAACACAGTGTGGGCACTTAGTCAATATCAGTTGTTATCATTATTAGGCAGATGGGAGCAAAATGGTAAATATCTACTGTGACCAGTGAAAGGGATCTGGATTTAATCTGTAGTCAGCAGACAGCCATTGAGGGACTCTTAGTGTAGGAATGATGTGACTAGCTCTGTAGTTTGCAAAGGTGAACGTGGAGGAATGAATGGATGAAAGGAGACATTGAGCATTGCACGTGATGGAAAATGGTGGGAGGCATAAAGAGGCCATTGGTGGAGTGTTTGACACTGTTCAGTACTTCACAGGTAGGACTGCTAGAATTCATTAGACTTACATATGTGAGAGCTGGGATTGTGAAAGGGAAGAGAAAGAAAACGGACATCAGTGTTTCTAGCCTGAGCATCTGAATCTCCAGTAATACTAACAATCGAGACAGGCAACAGAGACGGTACAATAGGTGTGTAGAAAGTAATGAATTCAGGTGTGGAATTTAGTTTGTTTTCTGTCATTATCCATTTGACCTTTCTAGAGTAAGCGAGCTTTTCAGGTTCGAATGTGGCAACCCAGCTTCTGATCTCAAAGATCCTTTTATTCTAAGGGACCACTATATTTTGAATAGTATGTAAGGTGTCACAAAGTAAAATACTACAAGCTATTAGAGAAACCTAACATGGTAGCTGGATATGGATACCAACTGGCTATCACGTGGTAGGCAAATGTGGCTTGAATTACTGTATTTATCGAAGCAGTGTTTTCTTTAAGCATAATTGAAAGTTTACTTTTAAATTTGGACATTCTACTCAATGCCAATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTCTTGTTTTAATGTGCAGGACAGAAGAGAATTGGAAAAGATTCCAACTATGAGCAGGAGGGTAAAGTCCAGTTCGTGATTGACGCAGTCTATGCTATGGCTCACGCCCTTCACCACATGAACAAGGATCTCTGTGCTGACTACCGGGGTGTCTGCCCAGAGATGGAGCAAGCTGGAGGCAAGAAGTTGCTGAAGTATATACGCAATGTTAATTTCAATGGTGAGTCTCCAAAAATCCATCCTTTTTGGAATCCTAAGTGTTGGCATTCTGTTTCATAAGTTTTAAATGTCTATTATTATTTACTTTAAAATATGTGTCAAAACTTGCTTGATTATAAAACTTTAAATGATTGAATCAATGCATGAATGAGCAAATGAATGTAAGAATGAGTTAAGATATATTTGGGGGTTATGGTTTGGTCTCATTTTCTTGAAATAGAGATTTTTTTTTTTTTTTTGCACTATGCCAAATTCTTCTTTGGTGAATTTAGGTGGGTATAGGATGGAAGAGGAAGGGAAAGGAGCAGTTGCTGTAGGTACCTCTGAATATGGAAAAACTGAAGTCATTTTTCCTCTGCTCTCATACCACAACAGGAATTCACACAGAAGACTTCTGTGACCAAATGTCAGTGGAGAGGTTTCCCCCACACACCAAGCTAGCAATAAATTCTGCAGTGGACACAAGCTGACTGTCCTCTACTTCAATTCCTACATGATCTATCTGGCATGCTGTGAAACCCCACAAGTTGGAGGCTTAGTTCCCAAGACTCTTCCCCTTGCCACTTGCAATGACAGTGGCAAACCCTAGGTTGTTTTGTCTGGGCTTCTGATGGTCCGGCTATAAACTGGAATTTTCACAATCTCCTCCTCAGGTTTGATTAATTTGCTAGAGCAACTCACAAAACTCAGTAAAACACTTACTTAAATTTATTACAAAAGGTATTTTAAAGGACACAAATAAACCTCCAGATGAAGAGATCCTAGGGCAAAGTCTGAAAGGGTCCTGAGAGTAGGAGTTTCTGTCCTCAGGGATTTGGGGTGTGCTGGCCTCCCCTGCACAAAGATGAGTTCTTGCTCACTTTCCTGTCAGCCTCCATGTGTTCAACTCTGAACCTTGTCCTCTTGGGCCTTTTATGAAGATTTCATTGGAATAGGCATGATCGACAACCACGAAGAAATGTGACTGTACACAAAGGGTATAATCTAATACTAATAGGCTAAGCGGGAATACCTGGTGAGGCCTGTCTGTCCAGATCCTTCTTGGTCTATCTGTGCAACATTTCTTCCTCCAGGATATGGGGCAGGACCCTTCTAAAATGACGGGCTGATAGCGTATTAACAAAAAGGTGGAGGAAGGTTAGAATGCTGCCTTGGGCTGGTAAAAGGAGGGCAGGGTAAGGTCAGAAAGAGAAATTGTTTTCTGAGGCCTAAAGTGCCCCAACATTATAACAAGGGCTATGGTAATTATGAGCCAAGAACCATACATGAAAAGCTACACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCATAAACTAACATCACAATACTCAAGTTAATTGGGATAATATTTGTAATTTGCCACATCAACCATATTTCAAGTTTTAAACATATTTCTCAAAGTACAAAACTCTTTTATAAATTGATAGGTTTCCTAAAAGAGGTGGGTAGAGATAAGTGAAAAAATGGGCCAATAGGATAAAAGACATAGGAGAAAGCACACTCTGATAATGTCTGTTTGAATAGTCTCAACTCTTACAACATCTTAATGTTTCACATGCCAACAGCTAAATAAGTAAACTTGAATGTATGAGCAATGCAACATTCAACACAGACAGTAACAAATAATCATAATTATATTATAAACAAATTGTGTAACTGAAGTGAAGGAGGGTGAGGAAGAAATAATGAATGCAAGTAATTTTGGAAAATAGTATCTGACTATATAAGGCTGAAGACAAAATAACTGTACACATATATTAGACAATATCTAGTAAATCTGTATTTTTCTCACAATTCTGAAGCTAATCTATGTATATAATGGGACTGAGAAAATAATT
Task1_train_5895
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.
Pathogenic; Global developmental delay
CAAATGAATAATCATAACAGTATCATTAAGAACCAAGATTGTCCTCATGAGAGAAAGGAAGTAGAGATTTAAGAGTGTCAAGGTTAAGCAAAAACTCTGTAGTCCTGAATTTGAATGGGAAATAGCTGCATAAATTCATGATAAATTTTATCTTTAAAAAAAAATCCTATACTATATACACTGAAAAACCCTAGATCCCGTGACAGGCAGTGAGCATAAAGTTGATTTGGTATTTAAATGAGATACATATAAAACACAACTCTCTGGCATATGAGATATTAATGGTGCTCTGAAATGGAAAAATACAAATTCAAGTAAATTTGGGAAATTCTGAATTTCCCTCTTGGAGGTTACATTTTATGTTATATGTTAAATGTTCTGGAAAAGTCAGTGAAGCAACCTAAAACATTTTAGCACAGTGGCTGTCCGGAACCCTTTGTGTGTTTTGCAGGAAAAGGGGTTGAGGTTGTAGAACTCTTATTGTGAGGTTGTAGAACTCTTATTGTTTCTTCACTACACAAATGTGCCGTAGGAAACAATTTGGAAAATATTGCTGTGAAAGTGAAATGCAATTTGTGGATAATTCTTCTTCATAGAGGGACAAGAGGTCTAGAGAGAGCTACTGGTGTCGTGTACTTAATGAATGCATAATTTAATGCAACAAGTGTTATTTAGTATCTACTGGATGCTAAAGGCTATGTTCAATGGTGGGGATCCAAAGGTAAAAACAAGAAAAATGTCTTGGACACCTGGTAGAGCATTAAAATATGATTCTATATTGACAGTGCTATAAGCAAGATTTGAAATGTTTTACGGGAATGTTGAATTGCGACTGAGCGCCTCGGTGTGACAAACAGTTGGGAATTAAGTATGATGGTGAAAGCAAAGAGGAAGGATCTCCCTGGCAAAGTAAACAGCATGAGCAAAGATAGTTTAACAGCAACAATAGTCACACCTATCTGGAAGAATAAAGGAAAATAAATGTGAGAGGGTAGGCAGGGTCCAGGTAATGAAAAGAATGTGGGCTTTGGGGTCTGACAAGCCTGGGCCATCATCATTGCTCTACCTGTAAATGACCTTTGGAAGGTGATTTAACCTCTATAAGGCTCAGCTTTCCCACTGGTATCATAAGGATAAAAAAAATTACCTCACAAAGTGATGATGACATAAAAATCCCACATCCACAGCTTTCAACACAGTGTGGGCACTTAGTCAATATCAGTTGTTATCATTATTAGGCAGATGGGAGCAAAATGGTAAATATCTACTGTGACCAGTGAAAGGGATCTGGATTTAATCTGTAGTCAGCAGACAGCCATTGAGGGACTCTTAGTGTAGGAATGATGTGACTAGCTCTGTAGTTTGCAAAGGTGAACGTGGAGGAATGAATGGATGAAAGGAGACATTGAGCATTGCACGTGATGGAAAATGGTGGGAGGCATAAAGAGGCCATTGGTGGAGTGTTTGACACTGTTCAGTACTTCACAGGTAGGACTGCTAGAATTCATTAGACTTACATATGTGAGAGCTGGGATTGTGAAAGGGAAGAGAAAGAAAACGGACATCAGTGTTTCTAGCCTGAGCATCTGAATCTCCAGTAATACTAACAATCGAGACAGGCAACAGAGACGGTACAATAGGTGTGTAGAAAGTAATGAATTCAGGTGTGGAATTTAGTTTGTTTTCTGTCATTATCCATTTGACCTTTCTAGAGTAAGCGAGCTTTTCAGGTTCGAATGTGGCAACCCAGCTTCTGATCTCAAAGATCCTTTTATTCTAAGGGACCACTATATTTTGAATAGTATGTAAGGTGTCACAAAGTAAAATACTACAAGCTATTAGAGAAACCTAACATGGTAGCTGGATATGGATACCAACTGGCTATCACGTGGTAGGCAAATGTGGCTTGAATTACTGTATTTATCGAAGCAGTGTTTTCTTTAAGCATAATTGAAAGTTTACTTTTAAATTTGGACATTCTACTCAATGCCAATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTCTTGTTTTAATGTGCAGGACAGGAGAGAATTGGAAAAGATTCCAACTATGAGCAGGAGGGTAAAGTCCAGTTCGTGATTGACGCAGTCTATGCTATGGCTCACGCCCTTCACCACATGAACAAGGATCTCTGTGCTGACTACCGGGGTGTCTGCCCAGAGATGGAGCAAGCTGGAGGCAAGAAGTTGCTGAAGTATATACGCAATGTTAATTTCAATGGTGAGTCTCCAAAAATCCATCCTTTTTGGAATCCTAAGTGTTGGCATTCTGTTTCATAAGTTTTAAATGTCTATTATTATTTACTTTAAAATATGTGTCAAAACTTGCTTGATTATAAAACTTTAAATGATTGAATCAATGCATGAATGAGCAAATGAATGTAAGAATGAGTTAAGATATATTTGGGGGTTATGGTTTGGTCTCATTTTCTTGAAATAGAGATTTTTTTTTTTTTTTTGCACTATGCCAAATTCTTCTTTGGTGAATTTAGGTGGGTATAGGATGGAAGAGGAAGGGAAAGGAGCAGTTGCTGTAGGTACCTCTGAATATGGAAAAACTGAAGTCATTTTTCCTCTGCTCTCATACCACAACAGGAATTCACACAGAAGACTTCTGTGACCAAATGTCAGTGGAGAGGTTTCCCCCACACACCAAGCTAGCAATAAATTCTGCAGTGGACACAAGCTGACTGTCCTCTACTTCAATTCCTACATGATCTATCTGGCATGCTGTGAAACCCCACAAGTTGGAGGCTTAGTTCCCAAGACTCTTCCCCTTGCCACTTGCAATGACAGTGGCAAACCCTAGGTTGTTTTGTCTGGGCTTCTGATGGTCCGGCTATAAACTGGAATTTTCACAATCTCCTCCTCAGGTTTGATTAATTTGCTAGAGCAACTCACAAAACTCAGTAAAACACTTACTTAAATTTATTACAAAAGGTATTTTAAAGGACACAAATAAACCTCCAGATGAAGAGATCCTAGGGCAAAGTCTGAAAGGGTCCTGAGAGTAGGAGTTTCTGTCCTCAGGGATTTGGGGTGTGCTGGCCTCCCCTGCACAAAGATGAGTTCTTGCTCACTTTCCTGTCAGCCTCCATGTGTTCAACTCTGAACCTTGTCCTCTTGGGCCTTTTATGAAGATTTCATTGGAATAGGCATGATCGACAACCACGAAGAAATGTGACTGTACACAAAGGGTATAATCTAATACTAATAGGCTAAGCGGGAATACCTGGTGAGGCCTGTCTGTCCAGATCCTTCTTGGTCTATCTGTGCAACATTTCTTCCTCCAGGATATGGGGCAGGACCCTTCTAAAATGACGGGCTGATAGCGTATTAACAAAAAGGTGGAGGAAGGTTAGAATGCTGCCTTGGGCTGGTAAAAGGAGGGCAGGGTAAGGTCAGAAAGAGAAATTGTTTTCTGAGGCCTAAAGTGCCCCAACATTATAACAAGGGCTATGGTAATTATGAGCCAAGAACCATACATGAAAAGCTACACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCATAAACTAACATCACAATACTCAAGTTAATTGGGATAATATTTGTAATTTGCCACATCAACCATATTTCAAGTTTTAAACATATTTCTCAAAGTACAAAACTCTTTTATAAATTGATAGGTTTCCTAAAAGAGGTGGGTAGAGATAAGTGAAAAAATGGGCCAATAGGATAAAAGACATAGGAGAAAGCACACTCTGATAATGTCTGTTTGAATAGTCTCAACTCTTACAACATCTTAATGTTTCACATGCCAACAGCTAAATAAGTAAACTTGAATGTATGAGCAATGCAACATTCAACACAGACAGTAACAAATAATCATAATTATATTATAAACAAATTGTGTAACTGAAGTGAAGGAGGGTGAGGAAGAAATAATGAATGCAAGTAATTTTGGAAAATAGTATCTGACTATATAAGGCTGAAGACAAAATAACTGTACACATATATTAGACAATATCTAGTAAATCTGTATTTTTCTCACAATTCTGAAGCTAATCTATGTATATAATGGGACTGAGAAAATAATT
CAAATGAATAATCATAACAGTATCATTAAGAACCAAGATTGTCCTCATGAGAGAAAGGAAGTAGAGATTTAAGAGTGTCAAGGTTAAGCAAAAACTCTGTAGTCCTGAATTTGAATGGGAAATAGCTGCATAAATTCATGATAAATTTTATCTTTAAAAAAAAATCCTATACTATATACACTGAAAAACCCTAGATCCCGTGACAGGCAGTGAGCATAAAGTTGATTTGGTATTTAAATGAGATACATATAAAACACAACTCTCTGGCATATGAGATATTAATGGTGCTCTGAAATGGAAAAATACAAATTCAAGTAAATTTGGGAAATTCTGAATTTCCCTCTTGGAGGTTACATTTTATGTTATATGTTAAATGTTCTGGAAAAGTCAGTGAAGCAACCTAAAACATTTTAGCACAGTGGCTGTCCGGAACCCTTTGTGTGTTTTGCAGGAAAAGGGGTTGAGGTTGTAGAACTCTTATTGTGAGGTTGTAGAACTCTTATTGTTTCTTCACTACACAAATGTGCCGTAGGAAACAATTTGGAAAATATTGCTGTGAAAGTGAAATGCAATTTGTGGATAATTCTTCTTCATAGAGGGACAAGAGGTCTAGAGAGAGCTACTGGTGTCGTGTACTTAATGAATGCATAATTTAATGCAACAAGTGTTATTTAGTATCTACTGGATGCTAAAGGCTATGTTCAATGGTGGGGATCCAAAGGTAAAAACAAGAAAAATGTCTTGGACACCTGGTAGAGCATTAAAATATGATTCTATATTGACAGTGCTATAAGCAAGATTTGAAATGTTTTACGGGAATGTTGAATTGCGACTGAGCGCCTCGGTGTGACAAACAGTTGGGAATTAAGTATGATGGTGAAAGCAAAGAGGAAGGATCTCCCTGGCAAAGTAAACAGCATGAGCAAAGATAGTTTAACAGCAACAATAGTCACACCTATCTGGAAGAATAAAGGAAAATAAATGTGAGAGGGTAGGCAGGGTCCAGGTAATGAAAAGAATGTGGGCTTTGGGGTCTGACAAGCCTGGGCCATCATCATTGCTCTACCTGTAAATGACCTTTGGAAGGTGATTTAACCTCTATAAGGCTCAGCTTTCCCACTGGTATCATAAGGATAAAAAAAATTACCTCACAAAGTGATGATGACATAAAAATCCCACATCCACAGCTTTCAACACAGTGTGGGCACTTAGTCAATATCAGTTGTTATCATTATTAGGCAGATGGGAGCAAAATGGTAAATATCTACTGTGACCAGTGAAAGGGATCTGGATTTAATCTGTAGTCAGCAGACAGCCATTGAGGGACTCTTAGTGTAGGAATGATGTGACTAGCTCTGTAGTTTGCAAAGGTGAACGTGGAGGAATGAATGGATGAAAGGAGACATTGAGCATTGCACGTGATGGAAAATGGTGGGAGGCATAAAGAGGCCATTGGTGGAGTGTTTGACACTGTTCAGTACTTCACAGGTAGGACTGCTAGAATTCATTAGACTTACATATGTGAGAGCTGGGATTGTGAAAGGGAAGAGAAAGAAAACGGACATCAGTGTTTCTAGCCTGAGCATCTGAATCTCCAGTAATACTAACAATCGAGACAGGCAACAGAGACGGTACAATAGGTGTGTAGAAAGTAATGAATTCAGGTGTGGAATTTAGTTTGTTTTCTGTCATTATCCATTTGACCTTTCTAGAGTAAGCGAGCTTTTCAGGTTCGAATGTGGCAACCCAGCTTCTGATCTCAAAGATCCTTTTATTCTAAGGGACCACTATATTTTGAATAGTATGTAAGGTGTCACAAAGTAAAATACTACAAGCTATTAGAGAAACCTAACATGGTAGCTGGATATGGATACCAACTGGCTATCACGTGGTAGGCAAATGTGGCTTGAATTACTGTATTTATCGAAGCAGTGTTTTCTTTAAGCATAATTGAAAGTTTACTTTTAAATTTGGACATTCTACTCAATGCCAATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTCTTGTTTTAATGTGCAGGACAGAAGAGAATTGGAAAAGATTCCAACTATGAGCAGGAGGGTAAAGTCCAGTTCGTGATTGACGCAGTCTATGCTATGGCTCACGCCCTTCACCACATGAACAAGGATCTCTGTGCTGACTACCGGGGTGTCTGCCCAGAGATGGAGCAAGCTGGAGGCAAGAAGTTGCTGAAGTATATACGCAATGTTAATTTCAATGGTGAGTCTCCAAAAATCCATCCTTTTTGGAATCCTAAGTGTTGGCATTCTGTTTCATAAGTTTTAAATGTCTATTATTATTTACTTTAAAATATGTGTCAAAACTTGCTTGATTATAAAACTTTAAATGATTGAATCAATGCATGAATGAGCAAATGAATGTAAGAATGAGTTAAGATATATTTGGGGGTTATGGTTTGGTCTCATTTTCTTGAAATAGAGATTTTTTTTTTTTTTTTGCACTATGCCAAATTCTTCTTTGGTGAATTTAGGTGGGTATAGGATGGAAGAGGAAGGGAAAGGAGCAGTTGCTGTAGGTACCTCTGAATATGGAAAAACTGAAGTCATTTTTCCTCTGCTCTCATACCACAACAGGAATTCACACAGAAGACTTCTGTGACCAAATGTCAGTGGAGAGGTTTCCCCCACACACCAAGCTAGCAATAAATTCTGCAGTGGACACAAGCTGACTGTCCTCTACTTCAATTCCTACATGATCTATCTGGCATGCTGTGAAACCCCACAAGTTGGAGGCTTAGTTCCCAAGACTCTTCCCCTTGCCACTTGCAATGACAGTGGCAAACCCTAGGTTGTTTTGTCTGGGCTTCTGATGGTCCGGCTATAAACTGGAATTTTCACAATCTCCTCCTCAGGTTTGATTAATTTGCTAGAGCAACTCACAAAACTCAGTAAAACACTTACTTAAATTTATTACAAAAGGTATTTTAAAGGACACAAATAAACCTCCAGATGAAGAGATCCTAGGGCAAAGTCTGAAAGGGTCCTGAGAGTAGGAGTTTCTGTCCTCAGGGATTTGGGGTGTGCTGGCCTCCCCTGCACAAAGATGAGTTCTTGCTCACTTTCCTGTCAGCCTCCATGTGTTCAACTCTGAACCTTGTCCTCTTGGGCCTTTTATGAAGATTTCATTGGAATAGGCATGATCGACAACCACGAAGAAATGTGACTGTACACAAAGGGTATAATCTAATACTAATAGGCTAAGCGGGAATACCTGGTGAGGCCTGTCTGTCCAGATCCTTCTTGGTCTATCTGTGCAACATTTCTTCCTCCAGGATATGGGGCAGGACCCTTCTAAAATGACGGGCTGATAGCGTATTAACAAAAAGGTGGAGGAAGGTTAGAATGCTGCCTTGGGCTGGTAAAAGGAGGGCAGGGTAAGGTCAGAAAGAGAAATTGTTTTCTGAGGCCTAAAGTGCCCCAACATTATAACAAGGGCTATGGTAATTATGAGCCAAGAACCATACATGAAAAGCTACACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCATAAACTAACATCACAATACTCAAGTTAATTGGGATAATATTTGTAATTTGCCACATCAACCATATTTCAAGTTTTAAACATATTTCTCAAAGTACAAAACTCTTTTATAAATTGATAGGTTTCCTAAAAGAGGTGGGTAGAGATAAGTGAAAAAATGGGCCAATAGGATAAAAGACATAGGAGAAAGCACACTCTGATAATGTCTGTTTGAATAGTCTCAACTCTTACAACATCTTAATGTTTCACATGCCAACAGCTAAATAAGTAAACTTGAATGTATGAGCAATGCAACATTCAACACAGACAGTAACAAATAATCATAATTATATTATAAACAAATTGTGTAACTGAAGTGAAGGAGGGTGAGGAAGAAATAATGAATGCAAGTAATTTTGGAAAATAGTATCTGACTATATAAGGCTGAAGACAAAATAACTGTACACATATATTAGACAATATCTAGTAAATCTGTATTTTTCTCACAATTCTGAAGCTAATCTATGTATATAATGGGACTGAGAAAATAATT
Task1_train_5896
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.
Pathogenic; Microcephaly
CAAATGAATAATCATAACAGTATCATTAAGAACCAAGATTGTCCTCATGAGAGAAAGGAAGTAGAGATTTAAGAGTGTCAAGGTTAAGCAAAAACTCTGTAGTCCTGAATTTGAATGGGAAATAGCTGCATAAATTCATGATAAATTTTATCTTTAAAAAAAAATCCTATACTATATACACTGAAAAACCCTAGATCCCGTGACAGGCAGTGAGCATAAAGTTGATTTGGTATTTAAATGAGATACATATAAAACACAACTCTCTGGCATATGAGATATTAATGGTGCTCTGAAATGGAAAAATACAAATTCAAGTAAATTTGGGAAATTCTGAATTTCCCTCTTGGAGGTTACATTTTATGTTATATGTTAAATGTTCTGGAAAAGTCAGTGAAGCAACCTAAAACATTTTAGCACAGTGGCTGTCCGGAACCCTTTGTGTGTTTTGCAGGAAAAGGGGTTGAGGTTGTAGAACTCTTATTGTGAGGTTGTAGAACTCTTATTGTTTCTTCACTACACAAATGTGCCGTAGGAAACAATTTGGAAAATATTGCTGTGAAAGTGAAATGCAATTTGTGGATAATTCTTCTTCATAGAGGGACAAGAGGTCTAGAGAGAGCTACTGGTGTCGTGTACTTAATGAATGCATAATTTAATGCAACAAGTGTTATTTAGTATCTACTGGATGCTAAAGGCTATGTTCAATGGTGGGGATCCAAAGGTAAAAACAAGAAAAATGTCTTGGACACCTGGTAGAGCATTAAAATATGATTCTATATTGACAGTGCTATAAGCAAGATTTGAAATGTTTTACGGGAATGTTGAATTGCGACTGAGCGCCTCGGTGTGACAAACAGTTGGGAATTAAGTATGATGGTGAAAGCAAAGAGGAAGGATCTCCCTGGCAAAGTAAACAGCATGAGCAAAGATAGTTTAACAGCAACAATAGTCACACCTATCTGGAAGAATAAAGGAAAATAAATGTGAGAGGGTAGGCAGGGTCCAGGTAATGAAAAGAATGTGGGCTTTGGGGTCTGACAAGCCTGGGCCATCATCATTGCTCTACCTGTAAATGACCTTTGGAAGGTGATTTAACCTCTATAAGGCTCAGCTTTCCCACTGGTATCATAAGGATAAAAAAAATTACCTCACAAAGTGATGATGACATAAAAATCCCACATCCACAGCTTTCAACACAGTGTGGGCACTTAGTCAATATCAGTTGTTATCATTATTAGGCAGATGGGAGCAAAATGGTAAATATCTACTGTGACCAGTGAAAGGGATCTGGATTTAATCTGTAGTCAGCAGACAGCCATTGAGGGACTCTTAGTGTAGGAATGATGTGACTAGCTCTGTAGTTTGCAAAGGTGAACGTGGAGGAATGAATGGATGAAAGGAGACATTGAGCATTGCACGTGATGGAAAATGGTGGGAGGCATAAAGAGGCCATTGGTGGAGTGTTTGACACTGTTCAGTACTTCACAGGTAGGACTGCTAGAATTCATTAGACTTACATATGTGAGAGCTGGGATTGTGAAAGGGAAGAGAAAGAAAACGGACATCAGTGTTTCTAGCCTGAGCATCTGAATCTCCAGTAATACTAACAATCGAGACAGGCAACAGAGACGGTACAATAGGTGTGTAGAAAGTAATGAATTCAGGTGTGGAATTTAGTTTGTTTTCTGTCATTATCCATTTGACCTTTCTAGAGTAAGCGAGCTTTTCAGGTTCGAATGTGGCAACCCAGCTTCTGATCTCAAAGATCCTTTTATTCTAAGGGACCACTATATTTTGAATAGTATGTAAGGTGTCACAAAGTAAAATACTACAAGCTATTAGAGAAACCTAACATGGTAGCTGGATATGGATACCAACTGGCTATCACGTGGTAGGCAAATGTGGCTTGAATTACTGTATTTATCGAAGCAGTGTTTTCTTTAAGCATAATTGAAAGTTTACTTTTAAATTTGGACATTCTACTCAATGCCAATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTCTTGTTTTAATGTGCAGGACAGGAGAGAATTGGAAAAGATTCCAACTATGAGCAGGAGGGTAAAGTCCAGTTCGTGATTGACGCAGTCTATGCTATGGCTCACGCCCTTCACCACATGAACAAGGATCTCTGTGCTGACTACCGGGGTGTCTGCCCAGAGATGGAGCAAGCTGGAGGCAAGAAGTTGCTGAAGTATATACGCAATGTTAATTTCAATGGTGAGTCTCCAAAAATCCATCCTTTTTGGAATCCTAAGTGTTGGCATTCTGTTTCATAAGTTTTAAATGTCTATTATTATTTACTTTAAAATATGTGTCAAAACTTGCTTGATTATAAAACTTTAAATGATTGAATCAATGCATGAATGAGCAAATGAATGTAAGAATGAGTTAAGATATATTTGGGGGTTATGGTTTGGTCTCATTTTCTTGAAATAGAGATTTTTTTTTTTTTTTTGCACTATGCCAAATTCTTCTTTGGTGAATTTAGGTGGGTATAGGATGGAAGAGGAAGGGAAAGGAGCAGTTGCTGTAGGTACCTCTGAATATGGAAAAACTGAAGTCATTTTTCCTCTGCTCTCATACCACAACAGGAATTCACACAGAAGACTTCTGTGACCAAATGTCAGTGGAGAGGTTTCCCCCACACACCAAGCTAGCAATAAATTCTGCAGTGGACACAAGCTGACTGTCCTCTACTTCAATTCCTACATGATCTATCTGGCATGCTGTGAAACCCCACAAGTTGGAGGCTTAGTTCCCAAGACTCTTCCCCTTGCCACTTGCAATGACAGTGGCAAACCCTAGGTTGTTTTGTCTGGGCTTCTGATGGTCCGGCTATAAACTGGAATTTTCACAATCTCCTCCTCAGGTTTGATTAATTTGCTAGAGCAACTCACAAAACTCAGTAAAACACTTACTTAAATTTATTACAAAAGGTATTTTAAAGGACACAAATAAACCTCCAGATGAAGAGATCCTAGGGCAAAGTCTGAAAGGGTCCTGAGAGTAGGAGTTTCTGTCCTCAGGGATTTGGGGTGTGCTGGCCTCCCCTGCACAAAGATGAGTTCTTGCTCACTTTCCTGTCAGCCTCCATGTGTTCAACTCTGAACCTTGTCCTCTTGGGCCTTTTATGAAGATTTCATTGGAATAGGCATGATCGACAACCACGAAGAAATGTGACTGTACACAAAGGGTATAATCTAATACTAATAGGCTAAGCGGGAATACCTGGTGAGGCCTGTCTGTCCAGATCCTTCTTGGTCTATCTGTGCAACATTTCTTCCTCCAGGATATGGGGCAGGACCCTTCTAAAATGACGGGCTGATAGCGTATTAACAAAAAGGTGGAGGAAGGTTAGAATGCTGCCTTGGGCTGGTAAAAGGAGGGCAGGGTAAGGTCAGAAAGAGAAATTGTTTTCTGAGGCCTAAAGTGCCCCAACATTATAACAAGGGCTATGGTAATTATGAGCCAAGAACCATACATGAAAAGCTACACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCATAAACTAACATCACAATACTCAAGTTAATTGGGATAATATTTGTAATTTGCCACATCAACCATATTTCAAGTTTTAAACATATTTCTCAAAGTACAAAACTCTTTTATAAATTGATAGGTTTCCTAAAAGAGGTGGGTAGAGATAAGTGAAAAAATGGGCCAATAGGATAAAAGACATAGGAGAAAGCACACTCTGATAATGTCTGTTTGAATAGTCTCAACTCTTACAACATCTTAATGTTTCACATGCCAACAGCTAAATAAGTAAACTTGAATGTATGAGCAATGCAACATTCAACACAGACAGTAACAAATAATCATAATTATATTATAAACAAATTGTGTAACTGAAGTGAAGGAGGGTGAGGAAGAAATAATGAATGCAAGTAATTTTGGAAAATAGTATCTGACTATATAAGGCTGAAGACAAAATAACTGTACACATATATTAGACAATATCTAGTAAATCTGTATTTTTCTCACAATTCTGAAGCTAATCTATGTATATAATGGGACTGAGAAAATAATT
CAAATGAATAATCATAACAGTATCATTAAGAACCAAGATTGTCCTCATGAGAGAAAGGAAGTAGAGATTTAAGAGTGTCAAGGTTAAGCAAAAACTCTGTAGTCCTGAATTTGAATGGGAAATAGCTGCATAAATTCATGATAAATTTTATCTTTAAAAAAAAATCCTATACTATATACACTGAAAAACCCTAGATCCCGTGACAGGCAGTGAGCATAAAGTTGATTTGGTATTTAAATGAGATACATATAAAACACAACTCTCTGGCATATGAGATATTAATGGTGCTCTGAAATGGAAAAATACAAATTCAAGTAAATTTGGGAAATTCTGAATTTCCCTCTTGGAGGTTACATTTTATGTTATATGTTAAATGTTCTGGAAAAGTCAGTGAAGCAACCTAAAACATTTTAGCACAGTGGCTGTCCGGAACCCTTTGTGTGTTTTGCAGGAAAAGGGGTTGAGGTTGTAGAACTCTTATTGTGAGGTTGTAGAACTCTTATTGTTTCTTCACTACACAAATGTGCCGTAGGAAACAATTTGGAAAATATTGCTGTGAAAGTGAAATGCAATTTGTGGATAATTCTTCTTCATAGAGGGACAAGAGGTCTAGAGAGAGCTACTGGTGTCGTGTACTTAATGAATGCATAATTTAATGCAACAAGTGTTATTTAGTATCTACTGGATGCTAAAGGCTATGTTCAATGGTGGGGATCCAAAGGTAAAAACAAGAAAAATGTCTTGGACACCTGGTAGAGCATTAAAATATGATTCTATATTGACAGTGCTATAAGCAAGATTTGAAATGTTTTACGGGAATGTTGAATTGCGACTGAGCGCCTCGGTGTGACAAACAGTTGGGAATTAAGTATGATGGTGAAAGCAAAGAGGAAGGATCTCCCTGGCAAAGTAAACAGCATGAGCAAAGATAGTTTAACAGCAACAATAGTCACACCTATCTGGAAGAATAAAGGAAAATAAATGTGAGAGGGTAGGCAGGGTCCAGGTAATGAAAAGAATGTGGGCTTTGGGGTCTGACAAGCCTGGGCCATCATCATTGCTCTACCTGTAAATGACCTTTGGAAGGTGATTTAACCTCTATAAGGCTCAGCTTTCCCACTGGTATCATAAGGATAAAAAAAATTACCTCACAAAGTGATGATGACATAAAAATCCCACATCCACAGCTTTCAACACAGTGTGGGCACTTAGTCAATATCAGTTGTTATCATTATTAGGCAGATGGGAGCAAAATGGTAAATATCTACTGTGACCAGTGAAAGGGATCTGGATTTAATCTGTAGTCAGCAGACAGCCATTGAGGGACTCTTAGTGTAGGAATGATGTGACTAGCTCTGTAGTTTGCAAAGGTGAACGTGGAGGAATGAATGGATGAAAGGAGACATTGAGCATTGCACGTGATGGAAAATGGTGGGAGGCATAAAGAGGCCATTGGTGGAGTGTTTGACACTGTTCAGTACTTCACAGGTAGGACTGCTAGAATTCATTAGACTTACATATGTGAGAGCTGGGATTGTGAAAGGGAAGAGAAAGAAAACGGACATCAGTGTTTCTAGCCTGAGCATCTGAATCTCCAGTAATACTAACAATCGAGACAGGCAACAGAGACGGTACAATAGGTGTGTAGAAAGTAATGAATTCAGGTGTGGAATTTAGTTTGTTTTCTGTCATTATCCATTTGACCTTTCTAGAGTAAGCGAGCTTTTCAGGTTCGAATGTGGCAACCCAGCTTCTGATCTCAAAGATCCTTTTATTCTAAGGGACCACTATATTTTGAATAGTATGTAAGGTGTCACAAAGTAAAATACTACAAGCTATTAGAGAAACCTAACATGGTAGCTGGATATGGATACCAACTGGCTATCACGTGGTAGGCAAATGTGGCTTGAATTACTGTATTTATCGAAGCAGTGTTTTCTTTAAGCATAATTGAAAGTTTACTTTTAAATTTGGACATTCTACTCAATGCCAATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTCTTGTTTTAATGTGCAGGACAGAAGAGAATTGGAAAAGATTCCAACTATGAGCAGGAGGGTAAAGTCCAGTTCGTGATTGACGCAGTCTATGCTATGGCTCACGCCCTTCACCACATGAACAAGGATCTCTGTGCTGACTACCGGGGTGTCTGCCCAGAGATGGAGCAAGCTGGAGGCAAGAAGTTGCTGAAGTATATACGCAATGTTAATTTCAATGGTGAGTCTCCAAAAATCCATCCTTTTTGGAATCCTAAGTGTTGGCATTCTGTTTCATAAGTTTTAAATGTCTATTATTATTTACTTTAAAATATGTGTCAAAACTTGCTTGATTATAAAACTTTAAATGATTGAATCAATGCATGAATGAGCAAATGAATGTAAGAATGAGTTAAGATATATTTGGGGGTTATGGTTTGGTCTCATTTTCTTGAAATAGAGATTTTTTTTTTTTTTTTGCACTATGCCAAATTCTTCTTTGGTGAATTTAGGTGGGTATAGGATGGAAGAGGAAGGGAAAGGAGCAGTTGCTGTAGGTACCTCTGAATATGGAAAAACTGAAGTCATTTTTCCTCTGCTCTCATACCACAACAGGAATTCACACAGAAGACTTCTGTGACCAAATGTCAGTGGAGAGGTTTCCCCCACACACCAAGCTAGCAATAAATTCTGCAGTGGACACAAGCTGACTGTCCTCTACTTCAATTCCTACATGATCTATCTGGCATGCTGTGAAACCCCACAAGTTGGAGGCTTAGTTCCCAAGACTCTTCCCCTTGCCACTTGCAATGACAGTGGCAAACCCTAGGTTGTTTTGTCTGGGCTTCTGATGGTCCGGCTATAAACTGGAATTTTCACAATCTCCTCCTCAGGTTTGATTAATTTGCTAGAGCAACTCACAAAACTCAGTAAAACACTTACTTAAATTTATTACAAAAGGTATTTTAAAGGACACAAATAAACCTCCAGATGAAGAGATCCTAGGGCAAAGTCTGAAAGGGTCCTGAGAGTAGGAGTTTCTGTCCTCAGGGATTTGGGGTGTGCTGGCCTCCCCTGCACAAAGATGAGTTCTTGCTCACTTTCCTGTCAGCCTCCATGTGTTCAACTCTGAACCTTGTCCTCTTGGGCCTTTTATGAAGATTTCATTGGAATAGGCATGATCGACAACCACGAAGAAATGTGACTGTACACAAAGGGTATAATCTAATACTAATAGGCTAAGCGGGAATACCTGGTGAGGCCTGTCTGTCCAGATCCTTCTTGGTCTATCTGTGCAACATTTCTTCCTCCAGGATATGGGGCAGGACCCTTCTAAAATGACGGGCTGATAGCGTATTAACAAAAAGGTGGAGGAAGGTTAGAATGCTGCCTTGGGCTGGTAAAAGGAGGGCAGGGTAAGGTCAGAAAGAGAAATTGTTTTCTGAGGCCTAAAGTGCCCCAACATTATAACAAGGGCTATGGTAATTATGAGCCAAGAACCATACATGAAAAGCTACACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCATAAACTAACATCACAATACTCAAGTTAATTGGGATAATATTTGTAATTTGCCACATCAACCATATTTCAAGTTTTAAACATATTTCTCAAAGTACAAAACTCTTTTATAAATTGATAGGTTTCCTAAAAGAGGTGGGTAGAGATAAGTGAAAAAATGGGCCAATAGGATAAAAGACATAGGAGAAAGCACACTCTGATAATGTCTGTTTGAATAGTCTCAACTCTTACAACATCTTAATGTTTCACATGCCAACAGCTAAATAAGTAAACTTGAATGTATGAGCAATGCAACATTCAACACAGACAGTAACAAATAATCATAATTATATTATAAACAAATTGTGTAACTGAAGTGAAGGAGGGTGAGGAAGAAATAATGAATGCAAGTAATTTTGGAAAATAGTATCTGACTATATAAGGCTGAAGACAAAATAACTGTACACATATATTAGACAATATCTAGTAAATCTGTATTTTTCTCACAATTCTGAAGCTAATCTATGTATATAATGGGACTGAGAAAATAATT
Task1_train_5897
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?
Pathogenic; Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
TGAAAAAAGAAAACATATGTGTACACACATACAAATATACATAAGCATATATGCATGTATAATTTATAATTATAAATAATAAAACAAGAAGTCTGAATAATTTCATCAACTGCAAAATTCACTCATAAGCAGAGAAACAGAAACAAAACCTAAGATCCCATAGGTTTGTTGACATCCTTTTCCTTTTTGAACTAAGCCATGGTTTGCAAATCTCTCATAAGTACGGTGACAGTGGTGACAAAAATTGTCTATGTCTATAAAGCCCTGTGACCATGTAAAGCCTTTCTTGAACAGTGTAGGCTGGCAAGGTGGAATGACATTAAAAGTCTAAAGGTATGCTAGTAGGGAAATATGAACTTTAAAAATATGAACTAATTTACACTTTAAAGAGTCATTAATTCAACATTGTTTTGTCTTTCTATGTTACATTCATTATGTATTATAGTCAGCAGCTGGTAGCTCCTTTTAACCGTTTGGAGACATACATATTCAAATTAATGTTGGCTAGAAAACTGTATTATTTCCAGACGAGATGGCAAAGTTGTCTTTGATTTCACTAGGGCCTCTGTTTGAAGAATTAAGATCAGAAATGTCCAGGCAGCCAATATGTCTGATGGAAATTTTTGTATAGCGATAGGCTGTTTAACCAGTGAGTTATAGGTAGGAAAAAGGTGTCCATTAGACAAACACATGAGCCTATCCATTGTATGTTTATCAAGTGCCTTCTTTGCAGACAATAATAATGTCCCAGAAAGACAGATCCTGCCTTCATGGAACTTAAGGCCTAGCAGGAAAATGGGCAGAAAAATGATCAAGATACTGAGTGCATAATTACAACAGAGACAAATGATCTAAAGAAGTCCTTTGAGAGTGTATCAGTAAAGAAGCTGGCCTAGACTTGAGGCTGTGAGTGCGGGCAGCCTGGGATGGGCATGCTAAGAAGAAAAGGAGGAACGTTCCATACGTAGGAAAACAAAAATAAAGAAAAGGGGCATGGAGAAAAGTTCTGTGATTGAATGAGTACAGTTCATTCATGATCTAAAGGACAGCCCAAATGGACGGAACCCTGGGAAGGCAAGACAGGGGATCAGGGGGTCAGGGAGTTGGGAAATAGTGGACAATTAGTCTAAAACAGTAGGCAAGCACAAACCATCCAAACTGCAAATAACACAACTCCAGAATAAGGCGTTGCATCTCATTAGTAATTTGACAATATAGAGTAGACAAGCCAACATCACTAGATCTTGTTCACTTGTCACTTGTGTTTTATAAGACAGAATTAAGCAAGAAGATCTTAGTTTTCAGAGAAAGTCAACTCACTATTCAGCAGATAGGGAAAAGGCGTGCCTTTCTAGAAAACAATATAAAAAGAGACATACATTAAGATAAAGACTTCTCAAAAGGCCCCAGAATCTCAATGTAGGAAGAAATCATGGAGTGTGAACCCTCTTTTACATGTATGAAAGATAAAACCTAACCACACCTTAATCAAGATTACAGATTTCTATGGTCTTCATGTCTTTATATTTAGCTGCCACTTCAATTAGAAGTCCTTCAAATATGATTAAAGGTTTACTCTGAACTTTAATATAAGAGACTTCTGTAGGGCAAGCATGTGCATGGATTGACCCAATAGCATTCAATCAATTAATACATGCATATGCTCTCCAATAACTGTGCAGAGTTATTGTGCTTTCCTTTATTTATCAAAATGCCCTGAAGATTGCTTTATCTCCTAGCCATAGTCGTTCTTGACATCGCTTTAAGTGTTCAGACCCCTACTGCAGTCATTTTATTTGTAATAGTGCCTTGTGTGTTGTGTCTCCTAGCTCTACATACAAACTACCACGCTTACAATCTCCATGAACCTAAGTGCATCAGTGGCGCTGGGGATGCTATACATGCCGAAAGTGTACATCATCATTTTCCACCCTGAACTCAATGTCCAGAAACGGAAGCGAAGCTTCAAGGCGGTAGTCACAGCAGCCACCATGTCATCGAGGCTGTCACACAAACCCAGTGACAGACCCAACGGTGAGGCAAAGACCGAGCTCTGTGAAAACGTAGACCCAAACAGTAAGTAACTCTCCGTTTCTTTCATCTTCCCACCCTGCATCAGGAAGCTCTAGAAGATGTGGGGTGTGCTTGCCTCTCTGGAGAAATACTGTGATCGTTCTTGTCTTATGGGCTGGGTTGCCTTGGTGAATGCCAGCTTCTGCTCTTTTGAGTTTGACTCATTCCTGCCACCATTTTCTTTTTGTTCCTTGTTGGAAAGAAGCTTTTGGAGGCTCTGCTTCAGAAGTGTGAAGCCTCCCCCTTCCCTTGCTTCTTGTCCTCTGGTACTGAATCCTCCAACTGACAAATGCACCTATCAGGTTGTTCTTTTCTTGCACCCTTCCTGCTAAGGCAACAACTTTTTGTCAGGGAAACTTCCATACTTAATGAACTGTATCGGTGGGAATTAATTAGGATTTTGGAAGCGAAACTTTTTTCCTCTAGCATGTGAATGTTGAAAAAGTTATTTTGTACTAATCAGGTCTTCTAGAAACATATAAAATATTGGAAAAAGTTGTCAAATCCAGGTACACAGGGCCAGACACTACCATGATAACGGCATCATACTGTGGGGAAAAACATATCTACCATACCACTGGAGAAGAGTTTTATTCTATGCAAGACAAACCTTAGGGAAGAAATCAAGGAAAAAAAACATTGGATTTAAGATGCTATTATATGGCATATCTGCAAAACTCTAGGAGCCTTTAGTCATGCATGCAAATGTCCCCAGGTAAAATGGGCATATAGCTATCACTTTGTAAGTAACACAAGACCAGCTCAAAGGTTAAATGCTTAGAATTCCCAATTGCTAACTTTACTAACAATATGGTGGTAAGAGTAAATTTCAGATTTAAAATACTAGTTTTAAGATTTGTTTTCCAGGAATATTTTGGCTAGTTGCATTTAGAATGAGGCAGATTCAAATATTTGTGATACTTCCTGTTGTTTAAGGCAGAAGGGATTTCAGGTTATCCATTAAGTCATTCACGACATACTGTATTTCAGTTAGAAGCTGATCTTGGTGTCAAATGCTTAATGCCAAATAGAAGGAAGTCTCAATTTTAAGTACTCTTGAAGAAATCCTTTTTGCTCTGCAAATAAGAGAGATATCTTTAATAAAAACCAAGAAGCCAACTGGGTTTGATCCTGACAAACACTACACAAAGAACTGTGATTTTGGCCTGTCTCTATTTATGAATAGTTGAGTGAATGTCGTGAAATACTTTGAAAATATGTAGACAAAGTAACAAGGTTAATTAACAACATTGTGGGCTCCAGTTTGACTTTGTGACAGAAGTCCTAGGACAAGTCTAAAGGAACATACTGAGAAGGGAGGAACAGAATGAATGATATAGGCTCTGTTGTGTCTCCAGAGCAAGTGGCCAATTGAGAGGAGGGCAAGTGGATGGTGACTTGCTGTGGCATTCAGTGTGATGTAGGAAGAGGCTTTGGGTTGAGACATACCTGGGTTCAAATGTAAACCACTCCATTTACCAGCCATGTGGCATTAAGAATCACTGAGCTTTTCTAAAACTCAACATAATTATGTATAAAAGAGATAATAACTATGTCATAAGTGTATCACAAAATACTATATTGAGAAAATACTATATCAACTAAATGTCAACGTCTTTCCCTTCCTGAAGAGGCAAAAAGCTTTGCTTAGAAATAAGTTTCAGCATAATTTATTAAGATATAGTAGCTAAAAAGATGCAGTTAAGTGTAGATTAAACACCACAGGGTAGATAAAACTCAATCCTCAAAAGAAGAATTTATGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGACGAGGTGGGCGGATCACCTGAGGTTAGGAGTTGGTGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTTGCGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGCA
TGAAAAAAGAAAACATATGTGTACACACATACAAATATACATAAGCATATATGCATGTATAATTTATAATTATAAATAATAAAACAAGAAGTCTGAATAATTTCATCAACTGCAAAATTCACTCATAAGCAGAGAAACAGAAACAAAACCTAAGATCCCATAGGTTTGTTGACATCCTTTTCCTTTTTGAACTAAGCCATGGTTTGCAAATCTCTCATAAGTACGGTGACAGTGGTGACAAAAATTGTCTATGTCTATAAAGCCCTGTGACCATGTAAAGCCTTTCTTGAACAGTGTAGGCTGGCAAGGTGGAATGACATTAAAAGTCTAAAGGTATGCTAGTAGGGAAATATGAACTTTAAAAATATGAACTAATTTACACTTTAAAGAGTCATTAATTCAACATTGTTTTGTCTTTCTATGTTACATTCATTATGTATTATAGTCAGCAGCTGGTAGCTCCTTTTAACCGTTTGGAGACATACATATTCAAATTAATGTTGGCTAGAAAACTGTATTATTTCCAGACGAGATGGCAAAGTTGTCTTTGATTTCACTAGGGCCTCTGTTTGAAGAATTAAGATCAGAAATGTCCAGGCAGCCAATATGTCTGATGGAAATTTTTGTATAGCGATAGGCTGTTTAACCAGTGAGTTATAGGTAGGAAAAAGGTGTCCATTAGACAAACACATGAGCCTATCCATTGTATGTTTATCAAGTGCCTTCTTTGCAGACAATAATAATGTCCCAGAAAGACAGATCCTGCCTTCATGGAACTTAAGGCCTAGCAGGAAAATGGGCAGAAAAATGATCAAGATACTGAGTGCATAATTACAACAGAGACAAATGATCTAAAGAAGTCCTTTGAGAGTGTATCAGTAAAGAAGCTGGCCTAGACTTGAGGCTGTGAGTGCGGGCAGCCTGGGATGGGCATGCTAAGAAGAAAAGGAGGAACGTTCCATACGTAGGAAAACAAAAATAAAGAAAAGGGGCATGGAGAAAAGTTCTGTGATTGAATGAGTACAGTTCATTCATGATCTAAAGGACAGCCCAAATGGACGGAACCCTGGGAAGGCAAGACAGGGGATCAGGGGGTCAGGGAGTTGGGAAATAGTGGACAATTAGTCTAAAACAGTAGGCAAGCACAAACCATCCAAACTGCAAATAACACAACTCCAGAATAAGGCGTTGCATCTCATTAGTAATTTGACAATATAGAGTAGACAAGCCAACATCACTAGATCTTGTTCACTTGTCACTTGTGTTTTATAAGACAGAATTAAGCAAGAAGATCTTAGTTTTCAGAGAAAGTCAACTCACTATTCAGCAGATAGGGAAAAGGCGTGCCTTTCTAGAAAACAATATAAAAAGAGACATACATTAAGATAAAGACTTCTCAAAAGGCCCCAGAATCTCAATGTAGGAAGAAATCATGGAGTGTGAACCCTCTTTTACATGTATGAAAGATAAAACCTAACCACACCTTAATCAAGATTACAGATTTCTATGGTCTTCATGTCTTTATATTTAGCTGCCACTTCAATTAGAAGTCCTTCAAATATGATTAAAGGTTTACTCTGAACTTTAATATAAGAGACTTCTGTAGGGCAAGCATGTGCATGGATTGACCCAATAGCATTCAATCAATTAATACATGCATATGCTCTCCAATAACTGTGCAGAGTTATTGTGCTTTCCTTTATTTATCAAAATGCCCTGAAGATTGCTTTATCTCCTAGCCATAGTCGTTCTTGACATCGCTTTAAGTGTTCAGACCCCTACTGCAGTCATTTTATTTGTAATAGTGCCTTGTGTGTTGTGTCTCCTAGCTCTACATACAAACTACCACGCTTACAATCTCCATGAACCTAAGTGCATCAGTGGCGCTGGGGATGCTATACATGCCGAAAGTGTACATCATCATTTTCCACCCTGAACTCAATGTCCAGAAACGGAAGCGAAGCTTCAAGGCGGTAGTCACAGCAGCCACCATGTCATCGAGGCTGTCACACAAACCCAGTGACAGACCCAACGGTGAGGCAAAGACCAAGCTCTGTGAAAACGTAGACCCAAACAGTAAGTAACTCTCCGTTTCTTTCATCTTCCCACCCTGCATCAGGAAGCTCTAGAAGATGTGGGGTGTGCTTGCCTCTCTGGAGAAATACTGTGATCGTTCTTGTCTTATGGGCTGGGTTGCCTTGGTGAATGCCAGCTTCTGCTCTTTTGAGTTTGACTCATTCCTGCCACCATTTTCTTTTTGTTCCTTGTTGGAAAGAAGCTTTTGGAGGCTCTGCTTCAGAAGTGTGAAGCCTCCCCCTTCCCTTGCTTCTTGTCCTCTGGTACTGAATCCTCCAACTGACAAATGCACCTATCAGGTTGTTCTTTTCTTGCACCCTTCCTGCTAAGGCAACAACTTTTTGTCAGGGAAACTTCCATACTTAATGAACTGTATCGGTGGGAATTAATTAGGATTTTGGAAGCGAAACTTTTTTCCTCTAGCATGTGAATGTTGAAAAAGTTATTTTGTACTAATCAGGTCTTCTAGAAACATATAAAATATTGGAAAAAGTTGTCAAATCCAGGTACACAGGGCCAGACACTACCATGATAACGGCATCATACTGTGGGGAAAAACATATCTACCATACCACTGGAGAAGAGTTTTATTCTATGCAAGACAAACCTTAGGGAAGAAATCAAGGAAAAAAAACATTGGATTTAAGATGCTATTATATGGCATATCTGCAAAACTCTAGGAGCCTTTAGTCATGCATGCAAATGTCCCCAGGTAAAATGGGCATATAGCTATCACTTTGTAAGTAACACAAGACCAGCTCAAAGGTTAAATGCTTAGAATTCCCAATTGCTAACTTTACTAACAATATGGTGGTAAGAGTAAATTTCAGATTTAAAATACTAGTTTTAAGATTTGTTTTCCAGGAATATTTTGGCTAGTTGCATTTAGAATGAGGCAGATTCAAATATTTGTGATACTTCCTGTTGTTTAAGGCAGAAGGGATTTCAGGTTATCCATTAAGTCATTCACGACATACTGTATTTCAGTTAGAAGCTGATCTTGGTGTCAAATGCTTAATGCCAAATAGAAGGAAGTCTCAATTTTAAGTACTCTTGAAGAAATCCTTTTTGCTCTGCAAATAAGAGAGATATCTTTAATAAAAACCAAGAAGCCAACTGGGTTTGATCCTGACAAACACTACACAAAGAACTGTGATTTTGGCCTGTCTCTATTTATGAATAGTTGAGTGAATGTCGTGAAATACTTTGAAAATATGTAGACAAAGTAACAAGGTTAATTAACAACATTGTGGGCTCCAGTTTGACTTTGTGACAGAAGTCCTAGGACAAGTCTAAAGGAACATACTGAGAAGGGAGGAACAGAATGAATGATATAGGCTCTGTTGTGTCTCCAGAGCAAGTGGCCAATTGAGAGGAGGGCAAGTGGATGGTGACTTGCTGTGGCATTCAGTGTGATGTAGGAAGAGGCTTTGGGTTGAGACATACCTGGGTTCAAATGTAAACCACTCCATTTACCAGCCATGTGGCATTAAGAATCACTGAGCTTTTCTAAAACTCAACATAATTATGTATAAAAGAGATAATAACTATGTCATAAGTGTATCACAAAATACTATATTGAGAAAATACTATATCAACTAAATGTCAACGTCTTTCCCTTCCTGAAGAGGCAAAAAGCTTTGCTTAGAAATAAGTTTCAGCATAATTTATTAAGATATAGTAGCTAAAAAGATGCAGTTAAGTGTAGATTAAACACCACAGGGTAGATAAAACTCAATCCTCAAAAGAAGAATTTATGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGACGAGGTGGGCGGATCACCTGAGGTTAGGAGTTGGTGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTTGCGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGCA
Task1_train_5898
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?
Pathogenic; Long QT syndrome 9
TACAGTTCCATCATCGTTTGCCAAGACAGGAGTGACCAATGAGATATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCCAGGTGTAATTATTGATAAAGCCTAAATCACCTCTGGTTTTCCCCCTCCTACCTCAAACTTCACCCAGCTCCAATCCACCCTCCACCTGGCCACCAGGGAGCTTCCTCACACACAAATCTGATACCGACCCTGTCCTGCTTTGAAGCCTTCAATGGCTTTCCAGCACCCCTAGACAAAATCCACATTCTTTAGTATGACATTTGGGATGCTGCACACCCAGGCCTGAGCTGAGCTGTATCTCCTGCCTCAACCCCAGACACCCTGTGCTCCAGCCACTCCACACTTTTCAACATTCCTGTCTATACCACTCCTCAATATCCACAATCCTGTAACTTGAAGTGTTCTAGGTGCTGAGCTCCTGCTTGTCATTCGATACCTATCTGCAAAGCCACCTCCCACAGGAAGTCTTCCCCGGTGTCCTCAGAGTAAGTTACTGACTCCTATGGACTTCTAAGACCAGCTCTTTGTAAAATATCTCTGATCTGTGGCACTTACCGCACAGTATTATAATCACTTATTGTTTTAATTAGTCTCCCCACCTTGACTGGGAGCACTTCAAGGCGGACAGAGCCTTGTTGGTCTGTTTATCCCCAGCTATTAGCAAATCCTGAATGAAGGAGTGAATAGACAGGTAAATGGAAGCACAGACCCTGACCCCTGAGGATTCAGAGTTGCCATCCTTCATGCTGCTGGAGCCCAGGGGAAGGCTGAGTTAGAAGAGGGCACAGAAAAACCGAGCAGGTATCTAAGAGAGGTGCACCCCACTGATGCATGTGGAGTGTCTGGGACCCAAGAAAATCCTGGAAGCTGTCACTAGGGCAGGGTGAAGGGTAGCACGAACATGGACTTCATGTTCCCCCCACCGGGCATATCCCAGTGCAGGCTCCAGACGGCAGACGAGGGGCAGCCCCACAGCAGCTTCCTCTCCCTGTTTCATCCCCAGCCTGGCCCCACACCACAGTCCATCAACTCCTGCTCCAGGTGGAAACCTCAGAAACCCACAAAGCTCGGACCTGCTCCAGGTCACCAAGCAGCAGGGCCAGGCACTGGCAATCCAACGAGAAGCCCCACTACATCGCATTCCAGCTCCTGAAGCCATTCCCTGGGTAGGAGAGCCCTGATTGTTATTATCATCTCTCCATTTTACAGATGGGGACAGAGTGGCCTAGAGAGGTGAAGTGTGCCAAAGGTCACACAGCCAGCCAGAGGCAGAGGAGGGACTAACCCCACTTCCCTCCACGGGCAGTGCACCCCAAAGGAGCCAAAATGCTGACAGCAGTGGGGCAAATTCCAGGGGCCCCGGAGCGACCGCCGAGTTGGCCACAGCCACACGATGCATAGGAAACGCTAGGCCCTCTGCACCCTCTCCTGAGGCCCAGTGCCCTGAGGCAGCCCCCTTTAAGGAGCGATCGGCCTTCCAGAAGAGCTCCAGTCTTAATTTTAGCTTGGAGGCCTGCCACAGGAGGCTTTAGAGAGAGGCAGGCTGAAGTTATGTGGGACAGCTGTCAGCCGGCATGCTGGGTGGGGCCTATTTAGCTGGCAGGGACATAAGTCTGGGGACACTGAATTGGTCTCTCTGCCCCAAGTATTTTCAGCCCCAGCCGGCCACACAGCTCGGATCTCCTCCTGTGGATCCCCCCAGCTCTGCGATGATGGCAGAAGAGCACACAGATCTCGAGGCCCAGATCGTCAAGGATATCCACTGCAAGGAGATTGACCTGGTGAACCGAGACCCCAAGAACATTAACGAGGACATAGTCAAGGTAGGCTCTGCAGGCCTGCCTCGGCGGGCGGAGAGTGTCAGGTTTGCGAGACGTGGGCGCTTGGCAGGGGAGGGTATCTGCTGCAGACACAGTTTCCCTGAAAAGAGACTTGTTGCTCTGTTGTCTCTGTATCACCCCCCCAACCCCACCCCACCCCCAAAAAAAGGCTTCTAAATCACCGAAGGATCTTTAGCAAAATCAAGAGCAAAAAATTAGCCTCATCTCCATGACCTAAGTGCTAATCAGGGCAGGAGGAGCGAGTCACAAAGAAAATCCCTCCTTACTACTGTGACGCTCCTGCCACTCACTCCTGGCTCTCACCCTGGGAGGAACAGGAACGGGCGGCCAAGTTGGGCTCCTTTCTGTGCCAAGGGGCATTTCTGCGGTCTCTCCAGTGGGTGCAGGGTTAATCCCCAGAGGGCAGCTTCCAGCAGGGCCGGCAGCCCCTCGAGGTACACTCACTCCCCCAGAGCACTGCCCAATATCTGTCCCCAAGGCCGAGGGCCATGCCCAGCCCTCCCCTAGCTACCCCCTCACCCCAGGTCTAGTGGCCAGGACAGGGCAGACGGCACCCGGGACCCTCGAAGAGAAAGCTCGGGGTTGTCTAGCCCTCAGGGAGTCTCTCAGCGTCTGAAGTTGGGCCTCTTCCCTCGCCTCCTGGTGACACTAGCGGCCCTGCTGCCTCCAGGCCCACACCTTCAATCCAACTTCCAGCCAGTACCCAGAGGGATCTTTCTTTTTTCTTTTTGAGACAGTCTCTCTCTGTCCCCAAGGCTGGAGTGCAGTCGCACACTCACGCCTCACTGCAGCCTCAACCTCCCAGGCTCAAGTGATTCTCCCTCCTCCACCTCCTGATTAGCTGGGACCACAGGCGAGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCATTATGTTGACCAAGCTGGTATCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCCCAAAGTGCTGGGATTACAGGTGCAAGACTCCACAACTGGCTCAGAGGTACCTTTCTAAAGCAGAATTCCTCCAAGAAGGGTCCCCAGCCACCAGCATCTGAGTCACTGGAGGGGCTGTTAAGAGGCCAGTGTCTGAGGCCTCTCAGATCCTACTGAAAGCATTGGAATCTCAGGCCAGTGCTGTCCAATAGGGATACTGTTACCACAAGGAATTTAAAATTTTCTAGCAGCCACATTTTAAAATGCGAAAGCAAACAGGTGAAATTAATGTTCCTGATATTTCTTACTTAACCCTATATATCTAAAATAGTATTATTTCAACATGTAAGCAATATAAAACAATTATCAATGAGCTATTGTACAGTCTTCAAGTTTGAAATCCAGTGTGCTTCCTATACCCACAGTATATTTCAGTTCAGACCCCACATTTTCATCCGAAATGCTTGTTCTGCATTTAGATTTCATAAAATGTACATGTGAAAATCGATTCGCATGCCTGTACTGTTTCAAACATTCTGCAAAAATTTTTCAATAATGAAATCGGGGTTTACATTTTAATTAAAGTTAAACAAAATCTAGAATTCTTCAGTTTCACTAGCCACATTTCAAGCGCTCAAAGCTCCTGGCCACTGGATCAGACAGGCCTGTATTGCGGTCTTTCAGTGGGGCACCTCCCATGCTGGAGAAGCCTAGCCTCTCCACGTGGCTGTCCAAACCCAACACAATCTGGCCCCAACCTGCTTCTTCTGCCTGGTTGGCTCCCACCTGCCAGCCCACCCACCAGAGTACATTCCTGTGCCATTGCCAGAAGTGCCTGTCCTCTCTTCTCCAGGTGGTGAATGCCTCACTCAGCCTTCAAGGCCCAACTCAAATGCAACCTCCTCCAGAAAGCCTTCCCTGACTCCTCCAGGCAATTAGTTGCTCCCACTTCTGTCCCCCTGCTTCACTCAGGGCATTCCTCCACCACAGCTCTTCTTATACTGGATATTATA
TACAGTTCCATCATCGTTTGCCAAGACAGGAGTGACCAATGAGATATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCCAGGTGTAATTATTGATAAAGCCTAAATCACCTCTGGTTTTCCCCCTCCTACCTCAAACTTCACCCAGCTCCAATCCACCCTCCACCTGGCCACCAGGGAGCTTCCTCACACACAAATCTGATACCGACCCTGTCCTGCTTTGAAGCCTTCAATGGCTTTCCAGCACCCCTAGACAAAATCCACATTCTTTAGTATGACATTTGGGATGCTGCACACCCAGGCCTGAGCTGAGCTGTATCTCCTGCCTCAACCCCAGACACCCTGTGCTCCAGCCACTCCACACTTTTCAACATTCCTGTCTATACCACTCCTCAATATCCACAATCCTGTAACTTGAAGTGTTCTAGGTGCTGAGCTCCTGCTTGTCATTCGATACCTATCTGCAAAGCCACCTCCCACAGGAAGTCTTCCCCGGTGTCCTCAGAGTAAGTTACTGACTCCTATGGACTTCTAAGACCAGCTCTTTGTAAAATATCTCTGATCTGTGGCACTTACCGCACAGTATTATAATCACTTATTGTTTTAATTAGTCTCCCCACCTTGACTGGGAGCACTTCAAGGCGGACAGAGCCTTGTTGGTCTGTTTATCCCCAGCTATTAGCAAATCCTGAATGAAGGAGTGAATAGACAGGTAAATGGAAGCACAGACCCTGACCCCTGAGGATTCAGAGTTGCCATCCTTCATGCTGCTGGAGCCCAGGGGAAGGCTGAGTTAGAAGAGGGCACAGAAAAACCGAGCAGGTATCTAAGAGAGGTGCACCCCACTGATGCATGTGGAGTGTCTGGGACCCAAGAAAATCCTGGAAGCTGTCACTAGGGCAGGGTGAAGGGTAGCACGAACATGGACTTCATGTTCCCCCCACCGGGCATATCCCAGTGCAGGCTCCAGACGGCAGACGAGGGGCAGCCCCACAGCAGCTTCCTCTCCCTGTTTCATCCCCAGCCTGGCCCCACACCACAGTCCATCAACTCCTGCTCCAGGTGGAAACCTCAGAAACCCACAAAGCTCGGACCTGCTCCAGGTCACCAAGCAGCAGGGCCAGGCACTGGCAATCCAACGAGAAGCCCCACTACATCGCATTCCAGCTCCTGAAGCCATTCCCTGGGTAGGAGAGCCCTGATTGTTATTATCATCTCTCCATTTTACAGATGGGGACAGAGTGGCCTAGAGAGGTGAAGTGTGCCAAAGGTCACACAGCCAGCCAGAGGCAGAGGAGGGACTAACCCCACTTCCCTCCACGGGCAGTGCACCCCAAAGGAGCCAAAATGCTGACAGCAGTGGGGCAAATTCCAGGGGCCCCGGAGCGACCGCCGAGTTGGCCACAGCCACACGATGCATAGGAAACGCTAGGCCCTCTGCACCCTCTCCTGAGGCCCAGTGCCCTGAGGCAGCCCCCTTTAAGGAGCGATCGGCCTTCCAGAAGAGCTCCAGTCTTAATTTTAGCTTGGAGGCCTGCCACAGGAGGCTTTAGAGAGAGGCAGGCTGAAGTTATGTGGGACAGCTGTCAGCCGGCATGCTGGGTGGGGCCTATTTAGCTGGCAGGGACATAAGTCTGGGGACACTGAATTGGTCTCTCTGCCCCAAGTATTTTCAGCCCCAGCCGGCCACACAGCTCGGATCTCCTCCTGTGGATCCCCCCAGCTCTGCGATGATGGCAGAAGAGCACACAGATCTCGAGGCCCAGATCCTCAAGGATATCCACTGCAAGGAGATTGACCTGGTGAACCGAGACCCCAAGAACATTAACGAGGACATAGTCAAGGTAGGCTCTGCAGGCCTGCCTCGGCGGGCGGAGAGTGTCAGGTTTGCGAGACGTGGGCGCTTGGCAGGGGAGGGTATCTGCTGCAGACACAGTTTCCCTGAAAAGAGACTTGTTGCTCTGTTGTCTCTGTATCACCCCCCCAACCCCACCCCACCCCCAAAAAAAGGCTTCTAAATCACCGAAGGATCTTTAGCAAAATCAAGAGCAAAAAATTAGCCTCATCTCCATGACCTAAGTGCTAATCAGGGCAGGAGGAGCGAGTCACAAAGAAAATCCCTCCTTACTACTGTGACGCTCCTGCCACTCACTCCTGGCTCTCACCCTGGGAGGAACAGGAACGGGCGGCCAAGTTGGGCTCCTTTCTGTGCCAAGGGGCATTTCTGCGGTCTCTCCAGTGGGTGCAGGGTTAATCCCCAGAGGGCAGCTTCCAGCAGGGCCGGCAGCCCCTCGAGGTACACTCACTCCCCCAGAGCACTGCCCAATATCTGTCCCCAAGGCCGAGGGCCATGCCCAGCCCTCCCCTAGCTACCCCCTCACCCCAGGTCTAGTGGCCAGGACAGGGCAGACGGCACCCGGGACCCTCGAAGAGAAAGCTCGGGGTTGTCTAGCCCTCAGGGAGTCTCTCAGCGTCTGAAGTTGGGCCTCTTCCCTCGCCTCCTGGTGACACTAGCGGCCCTGCTGCCTCCAGGCCCACACCTTCAATCCAACTTCCAGCCAGTACCCAGAGGGATCTTTCTTTTTTCTTTTTGAGACAGTCTCTCTCTGTCCCCAAGGCTGGAGTGCAGTCGCACACTCACGCCTCACTGCAGCCTCAACCTCCCAGGCTCAAGTGATTCTCCCTCCTCCACCTCCTGATTAGCTGGGACCACAGGCGAGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCATTATGTTGACCAAGCTGGTATCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCCCAAAGTGCTGGGATTACAGGTGCAAGACTCCACAACTGGCTCAGAGGTACCTTTCTAAAGCAGAATTCCTCCAAGAAGGGTCCCCAGCCACCAGCATCTGAGTCACTGGAGGGGCTGTTAAGAGGCCAGTGTCTGAGGCCTCTCAGATCCTACTGAAAGCATTGGAATCTCAGGCCAGTGCTGTCCAATAGGGATACTGTTACCACAAGGAATTTAAAATTTTCTAGCAGCCACATTTTAAAATGCGAAAGCAAACAGGTGAAATTAATGTTCCTGATATTTCTTACTTAACCCTATATATCTAAAATAGTATTATTTCAACATGTAAGCAATATAAAACAATTATCAATGAGCTATTGTACAGTCTTCAAGTTTGAAATCCAGTGTGCTTCCTATACCCACAGTATATTTCAGTTCAGACCCCACATTTTCATCCGAAATGCTTGTTCTGCATTTAGATTTCATAAAATGTACATGTGAAAATCGATTCGCATGCCTGTACTGTTTCAAACATTCTGCAAAAATTTTTCAATAATGAAATCGGGGTTTACATTTTAATTAAAGTTAAACAAAATCTAGAATTCTTCAGTTTCACTAGCCACATTTCAAGCGCTCAAAGCTCCTGGCCACTGGATCAGACAGGCCTGTATTGCGGTCTTTCAGTGGGGCACCTCCCATGCTGGAGAAGCCTAGCCTCTCCACGTGGCTGTCCAAACCCAACACAATCTGGCCCCAACCTGCTTCTTCTGCCTGGTTGGCTCCCACCTGCCAGCCCACCCACCAGAGTACATTCCTGTGCCATTGCCAGAAGTGCCTGTCCTCTCTTCTCCAGGTGGTGAATGCCTCACTCAGCCTTCAAGGCCCAACTCAAATGCAACCTCCTCCAGAAAGCCTTCCCTGACTCCTCCAGGCAATTAGTTGCTCCCACTTCTGTCCCCCTGCTTCACTCAGGGCATTCCTCCACCACAGCTCTTCTTATACTGGATATTATA
Task1_train_5899
Here is a variant affecting CAV3 (caveolin 3) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Long QT syndrome
TGAGATATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCCAGGTGTAATTATTGATAAAGCCTAAATCACCTCTGGTTTTCCCCCTCCTACCTCAAACTTCACCCAGCTCCAATCCACCCTCCACCTGGCCACCAGGGAGCTTCCTCACACACAAATCTGATACCGACCCTGTCCTGCTTTGAAGCCTTCAATGGCTTTCCAGCACCCCTAGACAAAATCCACATTCTTTAGTATGACATTTGGGATGCTGCACACCCAGGCCTGAGCTGAGCTGTATCTCCTGCCTCAACCCCAGACACCCTGTGCTCCAGCCACTCCACACTTTTCAACATTCCTGTCTATACCACTCCTCAATATCCACAATCCTGTAACTTGAAGTGTTCTAGGTGCTGAGCTCCTGCTTGTCATTCGATACCTATCTGCAAAGCCACCTCCCACAGGAAGTCTTCCCCGGTGTCCTCAGAGTAAGTTACTGACTCCTATGGACTTCTAAGACCAGCTCTTTGTAAAATATCTCTGATCTGTGGCACTTACCGCACAGTATTATAATCACTTATTGTTTTAATTAGTCTCCCCACCTTGACTGGGAGCACTTCAAGGCGGACAGAGCCTTGTTGGTCTGTTTATCCCCAGCTATTAGCAAATCCTGAATGAAGGAGTGAATAGACAGGTAAATGGAAGCACAGACCCTGACCCCTGAGGATTCAGAGTTGCCATCCTTCATGCTGCTGGAGCCCAGGGGAAGGCTGAGTTAGAAGAGGGCACAGAAAAACCGAGCAGGTATCTAAGAGAGGTGCACCCCACTGATGCATGTGGAGTGTCTGGGACCCAAGAAAATCCTGGAAGCTGTCACTAGGGCAGGGTGAAGGGTAGCACGAACATGGACTTCATGTTCCCCCCACCGGGCATATCCCAGTGCAGGCTCCAGACGGCAGACGAGGGGCAGCCCCACAGCAGCTTCCTCTCCCTGTTTCATCCCCAGCCTGGCCCCACACCACAGTCCATCAACTCCTGCTCCAGGTGGAAACCTCAGAAACCCACAAAGCTCGGACCTGCTCCAGGTCACCAAGCAGCAGGGCCAGGCACTGGCAATCCAACGAGAAGCCCCACTACATCGCATTCCAGCTCCTGAAGCCATTCCCTGGGTAGGAGAGCCCTGATTGTTATTATCATCTCTCCATTTTACAGATGGGGACAGAGTGGCCTAGAGAGGTGAAGTGTGCCAAAGGTCACACAGCCAGCCAGAGGCAGAGGAGGGACTAACCCCACTTCCCTCCACGGGCAGTGCACCCCAAAGGAGCCAAAATGCTGACAGCAGTGGGGCAAATTCCAGGGGCCCCGGAGCGACCGCCGAGTTGGCCACAGCCACACGATGCATAGGAAACGCTAGGCCCTCTGCACCCTCTCCTGAGGCCCAGTGCCCTGAGGCAGCCCCCTTTAAGGAGCGATCGGCCTTCCAGAAGAGCTCCAGTCTTAATTTTAGCTTGGAGGCCTGCCACAGGAGGCTTTAGAGAGAGGCAGGCTGAAGTTATGTGGGACAGCTGTCAGCCGGCATGCTGGGTGGGGCCTATTTAGCTGGCAGGGACATAAGTCTGGGGACACTGAATTGGTCTCTCTGCCCCAAGTATTTTCAGCCCCAGCCGGCCACACAGCTCGGATCTCCTCCTGTGGATCCCCCCAGCTCTGCGATGATGGCAGAAGAGCACACAGATCTCGAGGCCCAGATCGTCAAGGATATCCACTGCAAGGAGATTGACCTGGTGAACCGAGACCCCAAGAACATTAACGAGGACATAGTCAAGGTAGGCTCTGCAGGCCTGCCTCGGCGGGCGGAGAGTGTCAGGTTTGCGAGACGTGGGCGCTTGGCAGGGGAGGGTATCTGCTGCAGACACAGTTTCCCTGAAAAGAGACTTGTTGCTCTGTTGTCTCTGTATCACCCCCCCAACCCCACCCCACCCCCAAAAAAAGGCTTCTAAATCACCGAAGGATCTTTAGCAAAATCAAGAGCAAAAAATTAGCCTCATCTCCATGACCTAAGTGCTAATCAGGGCAGGAGGAGCGAGTCACAAAGAAAATCCCTCCTTACTACTGTGACGCTCCTGCCACTCACTCCTGGCTCTCACCCTGGGAGGAACAGGAACGGGCGGCCAAGTTGGGCTCCTTTCTGTGCCAAGGGGCATTTCTGCGGTCTCTCCAGTGGGTGCAGGGTTAATCCCCAGAGGGCAGCTTCCAGCAGGGCCGGCAGCCCCTCGAGGTACACTCACTCCCCCAGAGCACTGCCCAATATCTGTCCCCAAGGCCGAGGGCCATGCCCAGCCCTCCCCTAGCTACCCCCTCACCCCAGGTCTAGTGGCCAGGACAGGGCAGACGGCACCCGGGACCCTCGAAGAGAAAGCTCGGGGTTGTCTAGCCCTCAGGGAGTCTCTCAGCGTCTGAAGTTGGGCCTCTTCCCTCGCCTCCTGGTGACACTAGCGGCCCTGCTGCCTCCAGGCCCACACCTTCAATCCAACTTCCAGCCAGTACCCAGAGGGATCTTTCTTTTTTCTTTTTGAGACAGTCTCTCTCTGTCCCCAAGGCTGGAGTGCAGTCGCACACTCACGCCTCACTGCAGCCTCAACCTCCCAGGCTCAAGTGATTCTCCCTCCTCCACCTCCTGATTAGCTGGGACCACAGGCGAGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCATTATGTTGACCAAGCTGGTATCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCCCAAAGTGCTGGGATTACAGGTGCAAGACTCCACAACTGGCTCAGAGGTACCTTTCTAAAGCAGAATTCCTCCAAGAAGGGTCCCCAGCCACCAGCATCTGAGTCACTGGAGGGGCTGTTAAGAGGCCAGTGTCTGAGGCCTCTCAGATCCTACTGAAAGCATTGGAATCTCAGGCCAGTGCTGTCCAATAGGGATACTGTTACCACAAGGAATTTAAAATTTTCTAGCAGCCACATTTTAAAATGCGAAAGCAAACAGGTGAAATTAATGTTCCTGATATTTCTTACTTAACCCTATATATCTAAAATAGTATTATTTCAACATGTAAGCAATATAAAACAATTATCAATGAGCTATTGTACAGTCTTCAAGTTTGAAATCCAGTGTGCTTCCTATACCCACAGTATATTTCAGTTCAGACCCCACATTTTCATCCGAAATGCTTGTTCTGCATTTAGATTTCATAAAATGTACATGTGAAAATCGATTCGCATGCCTGTACTGTTTCAAACATTCTGCAAAAATTTTTCAATAATGAAATCGGGGTTTACATTTTAATTAAAGTTAAACAAAATCTAGAATTCTTCAGTTTCACTAGCCACATTTCAAGCGCTCAAAGCTCCTGGCCACTGGATCAGACAGGCCTGTATTGCGGTCTTTCAGTGGGGCACCTCCCATGCTGGAGAAGCCTAGCCTCTCCACGTGGCTGTCCAAACCCAACACAATCTGGCCCCAACCTGCTTCTTCTGCCTGGTTGGCTCCCACCTGCCAGCCCACCCACCAGAGTACATTCCTGTGCCATTGCCAGAAGTGCCTGTCCTCTCTTCTCCAGGTGGTGAATGCCTCACTCAGCCTTCAAGGCCCAACTCAAATGCAACCTCCTCCAGAAAGCCTTCCCTGACTCCTCCAGGCAATTAGTTGCTCCCACTTCTGTCCCCCTGCTTCACTCAGGGCATTCCTCCACCACAGCTCTTCTTATACTGGATATTATATTTCTATACATCGTTAGTGATGGAGATAGAGTATACAGT
TGAGATATAAACAGAAGTAGTTGGGTTGGACTTCTAACAAAGCTTTATAACAGAGCCGACTCAGTTCGCAGATGTCGTTTCTTGTCCCTGCCCCTTCCTCTTTCTTCTTATCCAGACTCAGAGATGATGATTGGAGGAGCAGTAGACATCTTGTGCCTATGAGGTGGCTTTCGGGCTAGCAGAACAGAAGGATGGGAGTCCAGATGTCTGAAGACATCATGGAGCCACTATAATATTTCTGAACTACTTGTGTTAAGTGAGAAAAAAAGTTCCTACCTTATTCAAGTCACTATTACTTTTGCATCCTTTGTGTTACTAGCCAGGTGTAATTATTGATAAAGCCTAAATCACCTCTGGTTTTCCCCCTCCTACCTCAAACTTCACCCAGCTCCAATCCACCCTCCACCTGGCCACCAGGGAGCTTCCTCACACACAAATCTGATACCGACCCTGTCCTGCTTTGAAGCCTTCAATGGCTTTCCAGCACCCCTAGACAAAATCCACATTCTTTAGTATGACATTTGGGATGCTGCACACCCAGGCCTGAGCTGAGCTGTATCTCCTGCCTCAACCCCAGACACCCTGTGCTCCAGCCACTCCACACTTTTCAACATTCCTGTCTATACCACTCCTCAATATCCACAATCCTGTAACTTGAAGTGTTCTAGGTGCTGAGCTCCTGCTTGTCATTCGATACCTATCTGCAAAGCCACCTCCCACAGGAAGTCTTCCCCGGTGTCCTCAGAGTAAGTTACTGACTCCTATGGACTTCTAAGACCAGCTCTTTGTAAAATATCTCTGATCTGTGGCACTTACCGCACAGTATTATAATCACTTATTGTTTTAATTAGTCTCCCCACCTTGACTGGGAGCACTTCAAGGCGGACAGAGCCTTGTTGGTCTGTTTATCCCCAGCTATTAGCAAATCCTGAATGAAGGAGTGAATAGACAGGTAAATGGAAGCACAGACCCTGACCCCTGAGGATTCAGAGTTGCCATCCTTCATGCTGCTGGAGCCCAGGGGAAGGCTGAGTTAGAAGAGGGCACAGAAAAACCGAGCAGGTATCTAAGAGAGGTGCACCCCACTGATGCATGTGGAGTGTCTGGGACCCAAGAAAATCCTGGAAGCTGTCACTAGGGCAGGGTGAAGGGTAGCACGAACATGGACTTCATGTTCCCCCCACCGGGCATATCCCAGTGCAGGCTCCAGACGGCAGACGAGGGGCAGCCCCACAGCAGCTTCCTCTCCCTGTTTCATCCCCAGCCTGGCCCCACACCACAGTCCATCAACTCCTGCTCCAGGTGGAAACCTCAGAAACCCACAAAGCTCGGACCTGCTCCAGGTCACCAAGCAGCAGGGCCAGGCACTGGCAATCCAACGAGAAGCCCCACTACATCGCATTCCAGCTCCTGAAGCCATTCCCTGGGTAGGAGAGCCCTGATTGTTATTATCATCTCTCCATTTTACAGATGGGGACAGAGTGGCCTAGAGAGGTGAAGTGTGCCAAAGGTCACACAGCCAGCCAGAGGCAGAGGAGGGACTAACCCCACTTCCCTCCACGGGCAGTGCACCCCAAAGGAGCCAAAATGCTGACAGCAGTGGGGCAAATTCCAGGGGCCCCGGAGCGACCGCCGAGTTGGCCACAGCCACACGATGCATAGGAAACGCTAGGCCCTCTGCACCCTCTCCTGAGGCCCAGTGCCCTGAGGCAGCCCCCTTTAAGGAGCGATCGGCCTTCCAGAAGAGCTCCAGTCTTAATTTTAGCTTGGAGGCCTGCCACAGGAGGCTTTAGAGAGAGGCAGGCTGAAGTTATGTGGGACAGCTGTCAGCCGGCATGCTGGGTGGGGCCTATTTAGCTGGCAGGGACATAAGTCTGGGGACACTGAATTGGTCTCTCTGCCCCAAGTATTTTCAGCCCCAGCCGGCCACACAGCTCGGATCTCCTCCTGTGGATCCCCCCAGCTCTGCGATGATGGCAGAAGAGCACACAGATCTCGAGGCCCAGATCGTCAAGGATATCCACTGCAAGGAGATTGACCTGGTGAACGGAGACCCCAAGAACATTAACGAGGACATAGTCAAGGTAGGCTCTGCAGGCCTGCCTCGGCGGGCGGAGAGTGTCAGGTTTGCGAGACGTGGGCGCTTGGCAGGGGAGGGTATCTGCTGCAGACACAGTTTCCCTGAAAAGAGACTTGTTGCTCTGTTGTCTCTGTATCACCCCCCCAACCCCACCCCACCCCCAAAAAAAGGCTTCTAAATCACCGAAGGATCTTTAGCAAAATCAAGAGCAAAAAATTAGCCTCATCTCCATGACCTAAGTGCTAATCAGGGCAGGAGGAGCGAGTCACAAAGAAAATCCCTCCTTACTACTGTGACGCTCCTGCCACTCACTCCTGGCTCTCACCCTGGGAGGAACAGGAACGGGCGGCCAAGTTGGGCTCCTTTCTGTGCCAAGGGGCATTTCTGCGGTCTCTCCAGTGGGTGCAGGGTTAATCCCCAGAGGGCAGCTTCCAGCAGGGCCGGCAGCCCCTCGAGGTACACTCACTCCCCCAGAGCACTGCCCAATATCTGTCCCCAAGGCCGAGGGCCATGCCCAGCCCTCCCCTAGCTACCCCCTCACCCCAGGTCTAGTGGCCAGGACAGGGCAGACGGCACCCGGGACCCTCGAAGAGAAAGCTCGGGGTTGTCTAGCCCTCAGGGAGTCTCTCAGCGTCTGAAGTTGGGCCTCTTCCCTCGCCTCCTGGTGACACTAGCGGCCCTGCTGCCTCCAGGCCCACACCTTCAATCCAACTTCCAGCCAGTACCCAGAGGGATCTTTCTTTTTTCTTTTTGAGACAGTCTCTCTCTGTCCCCAAGGCTGGAGTGCAGTCGCACACTCACGCCTCACTGCAGCCTCAACCTCCCAGGCTCAAGTGATTCTCCCTCCTCCACCTCCTGATTAGCTGGGACCACAGGCGAGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCATTATGTTGACCAAGCTGGTATCAAACTCTTGGGCTCAAGTGATCCTCCTGCCTCCCAAAGTGCTGGGATTACAGGTGCAAGACTCCACAACTGGCTCAGAGGTACCTTTCTAAAGCAGAATTCCTCCAAGAAGGGTCCCCAGCCACCAGCATCTGAGTCACTGGAGGGGCTGTTAAGAGGCCAGTGTCTGAGGCCTCTCAGATCCTACTGAAAGCATTGGAATCTCAGGCCAGTGCTGTCCAATAGGGATACTGTTACCACAAGGAATTTAAAATTTTCTAGCAGCCACATTTTAAAATGCGAAAGCAAACAGGTGAAATTAATGTTCCTGATATTTCTTACTTAACCCTATATATCTAAAATAGTATTATTTCAACATGTAAGCAATATAAAACAATTATCAATGAGCTATTGTACAGTCTTCAAGTTTGAAATCCAGTGTGCTTCCTATACCCACAGTATATTTCAGTTCAGACCCCACATTTTCATCCGAAATGCTTGTTCTGCATTTAGATTTCATAAAATGTACATGTGAAAATCGATTCGCATGCCTGTACTGTTTCAAACATTCTGCAAAAATTTTTCAATAATGAAATCGGGGTTTACATTTTAATTAAAGTTAAACAAAATCTAGAATTCTTCAGTTTCACTAGCCACATTTCAAGCGCTCAAAGCTCCTGGCCACTGGATCAGACAGGCCTGTATTGCGGTCTTTCAGTGGGGCACCTCCCATGCTGGAGAAGCCTAGCCTCTCCACGTGGCTGTCCAAACCCAACACAATCTGGCCCCAACCTGCTTCTTCTGCCTGGTTGGCTCCCACCTGCCAGCCCACCCACCAGAGTACATTCCTGTGCCATTGCCAGAAGTGCCTGTCCTCTCTTCTCCAGGTGGTGAATGCCTCACTCAGCCTTCAAGGCCCAACTCAAATGCAACCTCCTCCAGAAAGCCTTCCCTGACTCCTCCAGGCAATTAGTTGCTCCCACTTCTGTCCCCCTGCTTCACTCAGGGCATTCCTCCACCACAGCTCTTCTTATACTGGATATTATATTTCTATACATCGTTAGTGATGGAGATAGAGTATACAGT