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_28900
A variant on Chromosome 22 in gene MLC1 (modulator of VRAC current 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Megalencephalic leukoencephalopathy with subcortical cysts 1
GTCTGTAATCCTAGCACTTTGGGAGGCCGAGACAGGCAGATCACTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTGCTAAAAGTACAAAAATTAGCCGGGTGTGTTGGCATATGCCTGTAATCCCAGATGCTCCGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACTGTGCCACTGCACTCCAGCCTGGGAGACAGAGTGAGACTCTATCTTAAAAAAAAAAAAATGGCAAGGTACAGAATAGTGATTCTAGTATACAAGCTATTTTGTAAGAAAGAAAAAAAAATTATCATCTGGTTGCCCATAAGAGGAGCAGGTCAGTCAGGCATGAGACCACAGCTTTTCTGAGCTCGTCTTTTATAGTTTGGCTTTTGAACCACATAAATATTTTATATATTCAAAAAATACCATTTTAAAAAGAAAAAAAGCACCAAGCCCTAAAATGGAATACAACCAGAGGCCATTAAACTTAATGGGGTATCGAACCCAGAGGATAACCCCACACAGAAAGGGGCCGACTTCGATGGCGTGTGGCCGTCCCCTGCTAGCAGAATGCATGCTGAAGATAAAAGGGAAGCCTCAGGCTCACTCAGGAGATGGCCCCTGGGTGGTAATATTGTCTCTTGTAATCGTGAACAATTATATGCATATTGTAAGACAACATGAAGTAGGAGATATATTAAATGTCACAGGAAACAAAATAATTGGAGTAGGAGTGGGTGAAGCAAACACAAGAGAAGTGAAGAAAAAACCCTGGGCCGGGTGTTGTAGCTCACTCCTGTAATCCCAGCACCTGTGGGAGGCCGAGGACGCTATCCCCCTTCAGACAGTGACTCCATGCCCCCATCAGACAGTGACTCCATCCCCCATCAGACAGTGACTCCATTACCCCATTAGACAGTGACTCCATCCCCCGTCAGACAGTGACTCCATCCCCCGTCAGACAGTGACTCCATCCCCCGTCAGGCAGTGACTCTATCCCCTGTCAGGCAGTGACTCCATCCCCCGTCAGGCAGTGACTCCATCCCCCCATCAGGCAGTGACTCTATCCCCTGTCAGGCAGTGACTCCATCCCCCTGTCAGGCAGTGACTCCATCCCCCCATCAGGCAGTGACTCCATCCCCCCGTCAGGCAGTGACTCCATCCCCCGTCAGGCAGTGACTCCATCCCCCATCAGTGACTCCATCCCCCATCAGACAGTGACTCCATCCCCCATCAGACAGTGACTCCATCCCCCATCAGGCAGTGACCCCATCCTCCATCAGACAGTGACTCCATCCATCCATCAGACAGTGACTCCATCCATCCATCAGACAGTGACTCCATCCCCCATCAGACAGTGACTCCATCCCCCATCAGACAGTGACTCCATCCCCCATCAGACAGTGACTCCATCCCCCCATCAGGCAGTGACTCCATTCCCCATCAGCACACGCATGTTGACCTGGAGCAAACAGCTTAATACAGGTCTTCTAATGATTTGGGTGCAAAACCACTTATACTGGAAAAAAAAAAACAAAAAAACAAAAAAACACTAGGTATCTAAGAAATACATCTAGCTACACGTGCCTGAGCCTCAGAAGTCGTGTTGGAGATAAGCTCCTACTGGGTCAGCTCAAAGTAACAGGACTTTGAATTCTCCTTAAATTCACCTGTTAAACTCAATGCAGTTCTGATGCAAATCCGAAAAGCATGTCTCATAAACCCAGGACAGATTCTAAAATGGGCTCAGGGACAGAGTGGGTCCCAGGTCCCTGTGAAGCAGGTGGTGGCCCCAGATACAGGGCGGAATCGAGGCCCCGAGGCCCTGGGGCCAGGCTGGCATTGGGGAGCACGGTCACCGCTGCCCAGGAACAGCGGAGGAGGTGCCTCCTGGAGCTGTCCCTGGAGCCAGCGCCCCCAGAGTCCCAGGCAAAGCCAGCAAGGGCCAGGCCAACACGCAGAGCACCACATGTCTGGGGGGCTCTGAAATAAAATACAACTCACTTTTATGGCTGGCGGGTAATCCTTAAACATCTCCACGATTCTCATGATGCTGAATGACAGATATCCAGAGGCTGTGAACAGCAGCGGAGACGTGAGGCTGCTTATGGCAATCAGGACCTCCACCTGGAAAAAAAGCGCGGGTTGCAGGACCACGGCCGGAGCCTGGGAGCCCAGGACAGCGGGCGTGGCCAGGGCTGGGGGGGCGGGCATGGCCGGGCACTCATGGGCATAGTCCCAAGCTGGTTCCCTGCATGACTCCTGCTGAAACCTCTGCCTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACAAGTCTCGCTGTGTCGCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGTAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACCGTGTTTTGCCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGTGATTACAGGCATGAGCCACCGCGCCCGGCCTGCCTTTCTTTCTTTTTTGAGAGGCAGCCTAGCTGTGTAGCCCAGGCAGGAGTGCGGTGGCACAATCTCTGATCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCCGCCTCGGCCTCTTGAGTAGCTGGGATTACAGACATGCGCCACCACACCTGGCTAATTGTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGTCAGGCTGGTCTTCAACTCCTGACCTTGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCAGCCTGCCTTTTCATTCACAGCACAGTGCCACAAGTTTTGAAATACTTACCATCTAGGCAAGGTGGCTCACATCTGTAATCCAAGCACTTTGGGAGGCCGAGGAGGGCGGATCACCTGAGGTCACGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCATCTCTACTAAAGATACAAAAACTAAGCGGGTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTACAATGAGCTGAGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAACAAACAAAACCAAGAAACAAAAAACATTTACCTGCAATTCTCCACTCTTGAAAAAATAGCCCTTCCGCATGGGTCACCTCCTTCACTGCTCTGAAGTCTGTCCTTTTAACCCACCCCAAATCTTCCTGTTTGACCCATCAAGTCTCAGAGACAGCCTTCACTCATGCCAAGCATGGGCAGTCACCTTGCAAAGCACTCAGGGTCCACATTTTGGCAGCAGTCATTAACGATCGACCAGTTCAATTGTTTGCGGTCAGTTTGTGGCAGTTTCGGCCGGGCGTGGTGGCTCACACCGGTAATCCCAGCACTTTGGGAGGTTGAGGTGAGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAAGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAGACTGCATCTCAAAAAAGAAAAAAAAACAATCGACCAGCCTTAGGAGGTGCAGATGATGCTCAGACACTGGTCTCCTTCCAAGGGTTAGGCACAGAGAGCGCTTCCAGTGTCTACACCACCTTGTTCAGGTCTGCCTGTCCCTGAGAACAGTCCCTGCTGAGCGGGCCAGCCTCCACCTCCCACAACCCCACCTTCCTCATTGTGCAGGCCCTGCAGCCCAGTCACTGCGCTCTCTTGGGCTGGAGCCTGGTCACATGGCACCAAGGGAGGGCTAGGCCAGGCCCTGGCCCCGCTCGGTGGG
GTCTGTAATCCTAGCACTTTGGGAGGCCGAGACAGGCAGATCACTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTGCTAAAAGTACAAAAATTAGCCGGGTGTGTTGGCATATGCCTGTAATCCCAGATGCTCCGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACTGTGCCACTGCACTCCAGCCTGGGAGACAGAGTGAGACTCTATCTTAAAAAAAAAAAAATGGCAAGGTACAGAATAGTGATTCTAGTATACAAGCTATTTTGTAAGAAAGAAAAAAAAATTATCATCTGGTTGCCCATAAGAGGAGCAGGTCAGTCAGGCATGAGACCACAGCTTTTCTGAGCTCGTCTTTTATAGTTTGGCTTTTGAACCACATAAATATTTTATATATTCAAAAAATACCATTTTAAAAAGAAAAAAAGCACCAAGCCCTAAAATGGAATACAACCAGAGGCCATTAAACTTAATGGGGTATCGAACCCAGAGGATAACCCCACACAGAAAGGGGCCGACTTCGATGGCGTGTGGCCGTCCCCTGCTAGCAGAATGCATGCTGAAGATAAAAGGGAAGCCTCAGGCTCACTCAGGAGATGGCCCCTGGGTGGTAATATTGTCTCTTGTAATCGTGAACAATTATATGCATATTGTAAGACAACATGAAGTAGGAGATATATTAAATGTCACAGGAAACAAAATAATTGGAGTAGGAGTGGGTGAAGCAAACACAAGAGAAGTGAAGAAAAAACCCTGGGCCGGGTGTTGTAGCTCACTCCTGTAATCCCAGCACCTGTGGGAGGCCGAGGACGCTATCCCCCTTCAGACAGTGACTCCATGCCCCCATCAGACAGTGACTCCATCCCCCATCAGACAGTGACTCCATTACCCCATTAGACAGTGACTCCATCCCCCGTCAGACAGTGACTCCATCCCCCGTCAGACAGTGACTCCATCCCCCGTCAGGCAGTGACTCTATCCCCTGTCAGGCAGTGACTCCATCCCCCGTCAGGCAGTGACTCCATCCCCCCATCAGGCAGTGACTCTATCCCCTGTCAGGCAGTGACTCCATCCCCCTGTCAGGCAGTGACTCCATCCCCCCATCAGGCAGTGACTCCATCCCCCCGTCAGGCAGTGACTCCATCCCCCGTCAGGCAGTGACTCCATCCCCCATCAGTGACTCCATCCCCCATCAGACAGTGACTCCATCCCCCATCAGACAGTGACTCCATCCCCCATCAGGCAGTGACCCCATCCTCCATCAGACAGTGACTCCATCCATCCATCAGACAGTGACTCCATCCATCCATCAGACAGTGACTCCATCCCCCATCAGACAGTGACTCCATCCCCCATCAGACAGTGACTCCATCCCCCATCAGACAGTGACTCCATCCCCCCATCAGGCAGTGACTCCATTCCCCATCAGCACACGCATGTTGACCTGGAGCAAACAGCTTAATACAGGTCTTCTAATGATTTGGGTGCAAAACCACTTATACTGGAAAAAAAAAAACAAAAAAACAAAAAAACACTAGGTATCTAAGAAATACATCTAGCTACACGTGCCTGAGCCTCAGAAGTCGTGTTGGAGATAAGCTCCTACTGGGTCAGCTCAAAGTAACAGGACTTTGAATTCTCCTTAAATTCACCTGTTAAACTCAATGCAGTTCTGATGCAAATCCGAAAAGCATGTCTCATAAACCCAGGACAGATTCTAAAATGGGCTCAGGGACAGAGTGGGTCCCAGGTCCCTGTGAAGCAGGTGGTGGCCCCAGATACAGGGCGGAATCGAGGCCCCGAGGCCCTGGGGCCAGGCTGGCATTGGGGAGCACGGTCACCGCTGCCCAGGAACAGCGGAGGAGGTGCCTCCTGGAGCTGTCCCTGGAGCCAGCGCCCCCAGAGTCCCAGGCAAAGCCAGCAAGGGCCAGGCCAACACGCAGAGCACCACATGTCTGGGGGGCTCTGAAATAAAATACAACTCACTTTTATGGCTGGCAGGTAATCCTTAAACATCTCCACGATTCTCATGATGCTGAATGACAGATATCCAGAGGCTGTGAACAGCAGCGGAGACGTGAGGCTGCTTATGGCAATCAGGACCTCCACCTGGAAAAAAAGCGCGGGTTGCAGGACCACGGCCGGAGCCTGGGAGCCCAGGACAGCGGGCGTGGCCAGGGCTGGGGGGGCGGGCATGGCCGGGCACTCATGGGCATAGTCCCAAGCTGGTTCCCTGCATGACTCCTGCTGAAACCTCTGCCTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACAAGTCTCGCTGTGTCGCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGTAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACCGTGTTTTGCCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGTGATTACAGGCATGAGCCACCGCGCCCGGCCTGCCTTTCTTTCTTTTTTGAGAGGCAGCCTAGCTGTGTAGCCCAGGCAGGAGTGCGGTGGCACAATCTCTGATCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCCGCCTCGGCCTCTTGAGTAGCTGGGATTACAGACATGCGCCACCACACCTGGCTAATTGTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGTCAGGCTGGTCTTCAACTCCTGACCTTGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCAGCCTGCCTTTTCATTCACAGCACAGTGCCACAAGTTTTGAAATACTTACCATCTAGGCAAGGTGGCTCACATCTGTAATCCAAGCACTTTGGGAGGCCGAGGAGGGCGGATCACCTGAGGTCACGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCATCTCTACTAAAGATACAAAAACTAAGCGGGTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTACAATGAGCTGAGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAACAAACAAAACCAAGAAACAAAAAACATTTACCTGCAATTCTCCACTCTTGAAAAAATAGCCCTTCCGCATGGGTCACCTCCTTCACTGCTCTGAAGTCTGTCCTTTTAACCCACCCCAAATCTTCCTGTTTGACCCATCAAGTCTCAGAGACAGCCTTCACTCATGCCAAGCATGGGCAGTCACCTTGCAAAGCACTCAGGGTCCACATTTTGGCAGCAGTCATTAACGATCGACCAGTTCAATTGTTTGCGGTCAGTTTGTGGCAGTTTCGGCCGGGCGTGGTGGCTCACACCGGTAATCCCAGCACTTTGGGAGGTTGAGGTGAGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAAGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAGACTGCATCTCAAAAAAGAAAAAAAAACAATCGACCAGCCTTAGGAGGTGCAGATGATGCTCAGACACTGGTCTCCTTCCAAGGGTTAGGCACAGAGAGCGCTTCCAGTGTCTACACCACCTTGTTCAGGTCTGCCTGTCCCTGAGAACAGTCCCTGCTGAGCGGGCCAGCCTCCACCTCCCACAACCCCACCTTCCTCATTGTGCAGGCCCTGCAGCCCAGTCACTGCGCTCTCTTGGGCTGGAGCCTGGTCACATGGCACCAAGGGAGGGCTAGGCCAGGCCCTGGCCCCGCTCGGTGGG
Task1_train_28901
A sequence alteration has been identified in MLC1 (modulator of VRAC current 1) on Chromosome 22. Is it disease-inducing or harmless?
Pathogenic; Megalencephalic leukoencephalopathy with subcortical cysts 1
CAATCAAGGGCCCTGCCCTGGAAGGGTCCAGGCCTGCAGCCCAGCCCCCAACTCCAGCCCCGAGCACCTGCCTCCAGCCCATGGTGCAGGGCCTGGGCCCCTCTGCCGCACCCAGGCCAGACTCAGGCAGGTGGAGCTGGGTCCCTCACCACGCATGCCTCAGCGCTCTCCTCTCCTCCTGGGGTCTCCTGCCCTGAAGAGAGGGTTGGGAGTGTGGGTGGATTTAGGGGCGCCCAGGGGGCAGCACCTGATGGGCAGGGGGTGCTCTCCGGGAAGATGGAGAGAGCAGAGCCACCCCCGAGGCAGGAGGGGTCTGCGGGATGGGAGGGGCCTCTGTGATGAGGGCTGACTGCAGGGACAGGGAAGGGGGTAGGGCAAGTGCCTTTCATTCTCAACTTTTTGGAGGTATGTGGTCTCTGTCCTCCCTCAGCTTCGGGATGTAATCCCTGCGTTTCAGACCCCAGGGTCAGTTGTACACACCTGCAGGCGTCATTCTCTCTGTCACAGACCCGCTTGGGTGGGCACCCATGTGAGTTCTCTGTCTCAGTAGCTGGGCCTGGTCCTACCCCTTCCGGGGGTGTGGCTCTATCCCAGCTCGGTCCTGCCTGGGTCTCTTTCCCTCTCTGAGCGCCTCAGCAGCCCACTAGGTCGGGCACTGGTGCCCTGGGGGCATTGCTCTGTGCCTACTCGCCCCCACAGGGAGCTGAAACACAGCTGCTGCCAATGGGATGTGTCCACCTGGCAGGCGTGGGCCCCTTCTCGGCAGTCCACCCGGCCACACCGTTCCCGGGCAGGCGTGGGCCCCTTCTCCGCAGTCCACCCGGCCATACCATTCCCGGGCAGGCGTGGGCCCCTTCTCGGCAGTCCACCTGGCCATACTGCTCCCAGGCAGGCATGGGCCTCGGCAGCTTCAGGAAGAGCCCCACTGCTGCCCAGGAGGAGCCTGTAGCTGATGCTGGGTGCTCACCATTCCTGCTCATGTACATAAGAGAGCAGGGGCAAAATCTAAAAGTCCACACAGCATGAGACAAACCAGGGGCTGGCCGTCAACACCGGTGTGCAGGCCACTACGCGGCAAGGTGCTGAGAACCTCGTGGGGTCTGCGTCCGGAGGCAGGTGGGTGGTGGCTCTGGGTGGGCTACAGGCTGTGAGGGGATCTGGGGTGTGGAGGGGTTGCTCTAGACTCACTGTTCTGAGGGAACACACCTGTAATCCCAGCACTTTTGGGGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCGGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCATGGTGGTCCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGCAAATTACTTGAACCCGGGGAGGGGCAGAGGTTGTAGTGAGGTGATATTGAGCCACTGCACTCCAGCCTGGGTGGCAGAGTGAGACTCCATCTCAAAAAAATAAATAAATAAAATAAATAAAACAATGCCCATGTATTGAGCATGTGGCATGTGTCAGGTGCTGTGTGACACATCTGCTGCAGTAACATTTAATGTAAAGTAATAACAGAAATATGCTGCATTGTATGAAACACATAGTGTAATATAAATGCATTATATATTAGAAAATTATATAGAATAATAAACATCTACAGCCTGACATTCATATGTTAAAAAGATTAGAATAATAAAAATAATTGGTATTTTTTTCAGGAAAAATAATATAAAATAATCACACAAACTAATATAAAAGCAGTTAATACTTTGACTCATTTAATCCTTAACTCCCCAGTTCTTCTGAAGTTGGGGGCCAGCGAGGACCCTCTGTGGTGACTCTCTGTCTGAATGCACCAAGACTGAGCTCGGGGCCCAGCCACGCAGGATCTGAGCAGTGTGGCCCAGAGCGGCGGCGGGCGGGCCAGAGGGGTTACTCACGGCCACTAGGATCCAAAAGAACGTCACTGAGAGGTGTGGGCCTGAAACTGAGTCATCCACGTTCAGGGCAATGATCCCCCCGAGGACGGCAGAGATGCCTGCGATTACCTCGACGACCTGGAGGGGACAGGACAGCATCGGCTCATAAGGAAGTGGAGACACCCCCAGATTCCCAGAATGCACTGTGCAGACATGGACCCCCAGGAGCAGGGTCCAGTGGGCTGGCCCCAGATCTAACCGTGGAGGAGCCCACCTGGATGGACCCCCAGCCTCACCTGGCCCAGACCCCCTCTGCCCTCAGCTGCGGCTTTTCACGTCCCTCCTGGAGTAAAATAGCCAAAGAGGTGTTTCCCCCACTGCTGCTTTTGTCCACAGAAACTGAGGGTATTGACCTGACAGTGGTGAGGGCAGAAAACCAAGACCCTCAGACTCCCTTCCCTGTCTCACAGTGTGGCAGGCGGCGGTGCTCAGACCCTGGACCCCATCGAAGGGACTCGGGAAAACAGGCCTGGGGCAGAAGTAGCTTCCCATAGGACACACCCACCCGTGCCATGTGGGTTTGCCATTGCCACGGCAACACTGGACGTCACCACCCCTTTCCGTGGCAATGATCCAACCACCTGGACGTTAGCACCCCTTTTCTAGAAATTTCTGCATAATCTGCCCCTTAATTAGCATATACTTAAAAGTGGGTATAAATAGGAGGCAGAGCTGTCTCTGAGCTGCTGCTCGAGGCACCTGCCGGTTGGAGAGCCCTGCTATACTGCCACTGCAAACAAAGCTGCTGTCTGTCACCTCCAGCTCGCCCTTGAATTCTTTCCTGGACAAAGCCAAGAACCCTGCTGGCCTAAGCCCTGGTTGTGGACTCATCTGCCCGGCACCATCAGGGCCGCAACCAGCACCGCCAGACTCAGGGAGGGGCCGCAACCAGCACCGCCAGACTCAGGGAGGGGCCGCAACCAGCACCGCCAGACTCAGGGAGGGGCCGCAACCAGCACCGCCAGACTCAGGGAGGGCTGGGGAAGAAACACACGCCCGAAAACCTGCTCCCGTGAAGGATCTCTGTGAGTCGCAAACACAGAGCTGTGGCCAGCAGGAAAGCCAGGCATAAGGAGTGGGCCAGCAAGGGCTTGGGGGCCGGAAGGGACCTGGGCAGCCAGGCCTTGCGTCCAGAAGGCACAAAACTCCAGATGCACAAATAAAGCTGAATTCCCAGCCAGGCACGGCGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGACGGATCGTGAGGTCAGGAGTTTGAGTACAGCCTGGCCAACATGGTAAACCCCGTCTCTACTAAAAATAACAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATCGCTTCAACTCAGGAGGCAGAGGTTGCAGTGAACCAAGATCACACCACTGCACTCTAGCCTGGGCAACAGCAGGACTCCATCTCAAAAAAAAAGGAAAAAAAAAAAAGAAGCAGAACGGAAATGGAACCTAAGAGAGGACTGAAATGCTAAATAAGGGGAAGTGAAGGCACTGGGAAACACACACAGACACAGTCAAGCACACAGGAGGCTGTCCCATTGTTGGAGTAAAAAGGCAAAATGTCACTAAATGTCACAAGCTAGACAACAAGGCCAAGGCGGAGGGAAGGGGGACAGACCCCGCATGGTCTGTTTATCAAGGAGCGTATTAGAATATGAAGGGCAACCCCCAAAAGAATACTGAAAAATTTCCCATCCAAAATTAGAGGGAAAAGGAAGGACGGAGCCTCTGCCAATTCAAAAGAAGGCAGGGAAGGAGGGAAAAAGGCAAAATCAGGGAAAATGGAAAACTCAAAAGATGGTAAAAATAAGTAGAAATTTATCAGTAATAACTCTCAGAGGAAATGGGCTACATTCAAAAAGCTAGGGAGAGAGAATGACAAGATAAAGAACAAAATACAGTTACGTGCTGCTTATAACAATTATACCAAAGTACAAGGCAAGAAAAGTTGAAAGTAAGAAGGAGAAAGAGGCCAGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCTGGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAG
CAATCAAGGGCCCTGCCCTGGAAGGGTCCAGGCCTGCAGCCCAGCCCCCAACTCCAGCCCCGAGCACCTGCCTCCAGCCCATGGTGCAGGGCCTGGGCCCCTCTGCCGCACCCAGGCCAGACTCAGGCAGGTGGAGCTGGGTCCCTCACCACGCATGCCTCAGCGCTCTCCTCTCCTCCTGGGGTCTCCTGCCCTGAAGAGAGGGTTGGGAGTGTGGGTGGATTTAGGGGCGCCCAGGGGGCAGCACCTGATGGGCAGGGGGTGCTCTCCGGGAAGATGGAGAGAGCAGAGCCACCCCCGAGGCAGGAGGGGTCTGCGGGATGGGAGGGGCCTCTGTGATGAGGGCTGACTGCAGGGACAGGGAAGGGGGTAGGGCAAGTGCCTTTCATTCTCAACTTTTTGGAGGTATGTGGTCTCTGTCCTCCCTCAGCTTCGGGATGTAATCCCTGCGTTTCAGACCCCAGGGTCAGTTGTACACACCTGCAGGCGTCATTCTCTCTGTCACAGACCCGCTTGGGTGGGCACCCATGTGAGTTCTCTGTCTCAGTAGCTGGGCCTGGTCCTACCCCTTCCGGGGGTGTGGCTCTATCCCAGCTCGGTCCTGCCTGGGTCTCTTTCCCTCTCTGAGCGCCTCAGCAGCCCACTAGGTCGGGCACTGGTGCCCTGGGGGCATTGCTCTGTGCCTACTCGCCCCCACAGGGAGCTGAAACACAGCTGCTGCCAATGGGATGTGTCCACCTGGCAGGCGTGGGCCCCTTCTCGGCAGTCCACCCGGCCACACCGTTCCCGGGCAGGCGTGGGCCCCTTCTCCGCAGTCCACCCGGCCATACCATTCCCGGGCAGGCGTGGGCCCCTTCTCGGCAGTCCACCTGGCCATACTGCTCCCAGGCAGGCATGGGCCTCGGCAGCTTCAGGAAGAGCCCCACTGCTGCCCAGGAGGAGCCTGTAGCTGATGCTGGGTGCTCACCATTCCTGCTCATGTACATAAGAGAGCAGGGGCAAAATCTAAAAGTCCACACAGCATGAGACAAACCAGGGGCTGGCCGTCAACACCGGTGTGCAGGCCACTACGCGGCAAGGTGCTGAGAACCTCGTGGGGTCTGCGTCCGGAGGCAGGTGGGTGGTGGCTCTGGGTGGGCTACAGGCTGTGAGGGGATCTGGGGTGTGGAGGGGTTGCTCTAGACTCACTGTTCTGAGGGAACACACCTGTAATCCCAGCACTTTTGGGGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCGGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCATGGTGGTCCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGCAAATTACTTGAACCCGGGGAGGGGCAGAGGTTGTAGTGAGGTGATATTGAGCCACTGCACTCCAGCCTGGGTGGCAGAGTGAGACTCCATCTCAAAAAAATAAATAAATAAAATAAATAAAACAATGCCCATGTATTGAGCATGTGGCATGTGTCAGGTGCTGTGTGACACATCTGCTGCAGTAACATTTAATGTAAAGTAATAACAGAAATATGCTGCATTGTATGAAACACATAGTGTAATATAAATGCATTATATATTAGAAAATTATATAGAATAATAAACATCTACAGCCTGACATTCATATGTTAAAAAGATTAGAATAATAAAAATAATTGGTATTTTTTTCAGGAAAAATAATATAAAATAATCACACAAACTAATATAAAAGCAGTTAATACTTTGACTCATTTAATCCTTAACTCCCCAGTTCTTCTGAAGTTGGGGGCCAGCGAGGACCCTCTGTGGTGACTCTCTGTCTGAATGCACCAAGACTGAGCTCGGGGCCCAGCCACGCAGGATCTGAGCAGTGTGGCCCAGAGCGGCGGCGGGCGGGCCAGAGGGGTTACTCACGGCCACTAGGATCCAAAAGAACGTCACTGAGAGGTGTGGGCCTGAAACTGAGTCATCCACGTTCAGGGCAATGATCCCCCCGAGGACGGCAGAGATGACTGCGATTACCTCGACGACCTGGAGGGGACAGGACAGCATCGGCTCATAAGGAAGTGGAGACACCCCCAGATTCCCAGAATGCACTGTGCAGACATGGACCCCCAGGAGCAGGGTCCAGTGGGCTGGCCCCAGATCTAACCGTGGAGGAGCCCACCTGGATGGACCCCCAGCCTCACCTGGCCCAGACCCCCTCTGCCCTCAGCTGCGGCTTTTCACGTCCCTCCTGGAGTAAAATAGCCAAAGAGGTGTTTCCCCCACTGCTGCTTTTGTCCACAGAAACTGAGGGTATTGACCTGACAGTGGTGAGGGCAGAAAACCAAGACCCTCAGACTCCCTTCCCTGTCTCACAGTGTGGCAGGCGGCGGTGCTCAGACCCTGGACCCCATCGAAGGGACTCGGGAAAACAGGCCTGGGGCAGAAGTAGCTTCCCATAGGACACACCCACCCGTGCCATGTGGGTTTGCCATTGCCACGGCAACACTGGACGTCACCACCCCTTTCCGTGGCAATGATCCAACCACCTGGACGTTAGCACCCCTTTTCTAGAAATTTCTGCATAATCTGCCCCTTAATTAGCATATACTTAAAAGTGGGTATAAATAGGAGGCAGAGCTGTCTCTGAGCTGCTGCTCGAGGCACCTGCCGGTTGGAGAGCCCTGCTATACTGCCACTGCAAACAAAGCTGCTGTCTGTCACCTCCAGCTCGCCCTTGAATTCTTTCCTGGACAAAGCCAAGAACCCTGCTGGCCTAAGCCCTGGTTGTGGACTCATCTGCCCGGCACCATCAGGGCCGCAACCAGCACCGCCAGACTCAGGGAGGGGCCGCAACCAGCACCGCCAGACTCAGGGAGGGGCCGCAACCAGCACCGCCAGACTCAGGGAGGGGCCGCAACCAGCACCGCCAGACTCAGGGAGGGCTGGGGAAGAAACACACGCCCGAAAACCTGCTCCCGTGAAGGATCTCTGTGAGTCGCAAACACAGAGCTGTGGCCAGCAGGAAAGCCAGGCATAAGGAGTGGGCCAGCAAGGGCTTGGGGGCCGGAAGGGACCTGGGCAGCCAGGCCTTGCGTCCAGAAGGCACAAAACTCCAGATGCACAAATAAAGCTGAATTCCCAGCCAGGCACGGCGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGACGGATCGTGAGGTCAGGAGTTTGAGTACAGCCTGGCCAACATGGTAAACCCCGTCTCTACTAAAAATAACAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATCGCTTCAACTCAGGAGGCAGAGGTTGCAGTGAACCAAGATCACACCACTGCACTCTAGCCTGGGCAACAGCAGGACTCCATCTCAAAAAAAAAGGAAAAAAAAAAAAGAAGCAGAACGGAAATGGAACCTAAGAGAGGACTGAAATGCTAAATAAGGGGAAGTGAAGGCACTGGGAAACACACACAGACACAGTCAAGCACACAGGAGGCTGTCCCATTGTTGGAGTAAAAAGGCAAAATGTCACTAAATGTCACAAGCTAGACAACAAGGCCAAGGCGGAGGGAAGGGGGACAGACCCCGCATGGTCTGTTTATCAAGGAGCGTATTAGAATATGAAGGGCAACCCCCAAAAGAATACTGAAAAATTTCCCATCCAAAATTAGAGGGAAAAGGAAGGACGGAGCCTCTGCCAATTCAAAAGAAGGCAGGGAAGGAGGGAAAAAGGCAAAATCAGGGAAAATGGAAAACTCAAAAGATGGTAAAAATAAGTAGAAATTTATCAGTAATAACTCTCAGAGGAAATGGGCTACATTCAAAAAGCTAGGGAGAGAGAATGACAAGATAAAGAACAAAATACAGTTACGTGCTGCTTATAACAATTATACCAAAGTACAAGGCAAGAAAAGTTGAAAGTAAGAAGGAGAAAGAGGCCAGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCTGGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAG
Task1_train_28902
An alteration has been detected in MLC1 (modulator of VRAC current 1) on Chromosome 22. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Megalencephalic leukoencephalopathy with subcortical cysts 1
GTTTTTTGGAGGGTAATGAAACGACTGCAGGCCCTGACCGTATTGGCAGTGACATGAATTTATATGTGTGTTAATATTCATAGAAGCATACATTTTAAAAAGTCAGTGTAGCTGTCTGACAATTTTTTTTTTTTTTTTGAGACGGAGGTTCGCTCTTGTTGCCCAGGCTGGAGAGCAAATGGCGCAATCTCGGCTCACCGCAACCTCTGCCTCCTGGGTTCAAATGATTGTCCTGCCTCAGCCTCCCGAGTAAGCTGGGGTTACAGGCACCTACCAGCACGCCCGGCTAATTTTGTATTTTTAGTAGAGAGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCGGCCTGACAATTTTTAAAATACATTTAAAAAAGAAAGAGTGCAGAACCACATTCAACTAAAAACAGAGCCTCGAAATATATGATGTCATAACAGAGCCACAGGAAGATGTAGATATATCAGTAGAGGTGGGGAAGGACTTGAAACACTTTTCTTAGAAACTGACAGATCAGGCAGAGGGAGGCGGCTCACGCCTGTGATCCCAGCACTTTGGGGGACCGAGGCGGTTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGACCAACATGGTGAAACCCCTTGTCTACTAAAAATACAAAAATCAGCTGGGTACGGTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATTGCTTGAACCCGAGAGGCGGAGGTTGCCGTGAGCCGAGATGGAGCCACTGCACTCCAGTCTGGGCGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAATGACAGATCAAAAAGACAAAAGCATAAGGAGAACTCTAAAATTCAGAAAAGTGTGACATTAACCTTGTCTTTTATTTTCTGTATTTCTGGTGCTTTGACCTCTGGCTCCTTCCTGATCCTGAAGAGACAGCTCCTCCCAGGGCCAGCCGACAGCTACAGTGAGTAACTTGCCTCTGAGCAGTTCAGATACAAGCCACTGACCCAGGGACCACACCCCATCTGCTCTCCGTCTTAATAAAGAAGCGTCACAGGCCGGGCGCGGTGGCTCATACCTGTAATCCCAGCACTATGGGAGGCCGAGGTGGATGGATCACCTGAGGTCAGGAGTACAAGGCCAGCCTGGCCAACATGGTGAAACCTTGTCTGTACTAAAAATACAAAAATTAGCCGAGTGTGGTGGCACACGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTAGAGGTTGCAGTGAGCCGAGATGGCGCCACTACACTCCAGCCTGGGCGACAGAGCGAGATTCCTTCTCAAAAACAAAACAAAACAAAACAAAAAGGCAGTGTGGGTGTTCCCACTGGGTCCTCCTGTGTCTGCTCATTTTTCCTGCCCAACGAGAGTGGCCAGGACATACTCAAGCCTCCTCCAGCTTTCCCCAATCATCAAGTGCATTCCACATGTCACACAAAGCAGGAGGCCCTCCTTGCAGTATCTCGGATGAGGTCCTGGTTTCCTTTGGGATTTTTGTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCTTCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCCCACAACCTCTGCCCCCTACAATTTCACATTTTTGTTTAGAGGTGCATTGAACAACTGTCTTACACAGATTGGATGAAACATAGTATTATGTCACTGTTAATTTTTAAGGACTGTTGGAAAAGACATTGTTTACCAATAAATCTGTCCCGCAGAATCACGAGACTTCAATAAAGACAATTATTTTCTTTGGATGCATAAATCTCTCAACTTTAGTCAAACTCACGAGCTGTGAATAACATTTACCACCTATTTCCAGCTCAACAAACATTTGCTGACACCATTCGTGGGAGTGGGGCTGTGGGTGTCAGGCGTCTGCGCGAAGCTCGTGTGAACTCACGTTTATTGCTGATGGGTTCAGGACTAGTTTGCATCCAAACCAAATTAAACACGTAGTGGTCACAGCAAACGTGGAAACAAACAATATCTGAAAGTTGGGAATCTGAAAAACAAGGCAGGAGGGGTTTTCCTTCTTTGAATAATAAAAGAAAAAAGGTAACAGATAAACCACACTTCAGGCCATTCACTAAAAATTATCCTGATTAGGACATAATGGTGGGGAGTCCTGCGTGCTCAGCCCGCTCTCCCCTCTGTGCGGCAAAGGCTGGGCTGGGCAGGAGCTTTACTGTCTGGGGGGCAACCTCGGGGGCCCCTCTCGGTGCCACAACGTCTGTGCGTGGGCACACACACAAGCACACATGGGCACACTGTCTGTCAGCCCCTCCGGCTTTCTCCCTGGCAGAGGCTGCCTGCAAGCTAGACTCACCACATTGGCGTTCCTCCTGGAGACGGTGAAGCTCACAATTGCCGAGGGGATGCACTGGAATGAAACCGGAATCCCATGAGCCTGCCGCTCACCTGAGCAACTGAGACTCTGAAATACTCTAACATTTGCGCTTCCAGAAGGATCTGAATCATATTCACAAAACAGTGTTGCCAGTCCATGCAACACAGTGGGTTGGCTTGACTAGAAGGCCCCCAGGTACTTCTCAGTTTTAATTTTTTCTTGAGATGGGGTCTCACTCTGTTGCCCAAGCTGATCTTAACTTTGGGCTCAAATGATCTGTTCACCTCAGCTTCCCAAAGCCCTGCGATTACAGGCATGAGCCGCTGCGCCCAACCCCCAGGTACTTCAAAATAATTTATTCTGAAAGAAGTTTTTATTTTTCTGATGTGCTAAAAAGATATTTGTTAATGAAGGCTCTTCTAGCTGGATAAGCTTTGAAGCCTAGAATGTAACTCACGCAGGCACAAGACCTGGTCTTTGCTGAAAATTACCCAAAAAAGGAAAAAGTATCAGCCGGGTGCAGTGGCTCACACCTCTAGTCCCAACTACTCCGGAGGCTGAGCTGGGAGGATCTCTTGAGCCCAGGAGTTCGAGGCTGCAGTGAGCTGTGAATACTCGGTGATAGAGTGAGACCTTGTCTCAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGGAGGTCTGGTGCAGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCTGAGGCGGGTGGATCAGAGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCAGAGACGGCGCCATTGCACTCCAGCCTGTGTGACAGAGCAAGACTCCGTCAAAGAAAGAAAGAAAGAAAAAAAGAAAGAAAGAAAGAGGAAGGAAGGAGCAAAGGAAGTAGCAAGACTCTGCATGTGAGGGAGGCAGAAAGGAGTCCCACAGCCTTCTTGTCCTCAGCCTTCTTGTCCCCACAGGGCCACACCAAGGCTAGGAGTCCAGGGCCAGGGAGGGAGGTTGGGACGTCAGGGACAGGGAGGTGGATGGAGTCGGGCCAGCCCAGGCCTGTGGCCCTTGCCGTGCAGGGCCTTGCTCCTGCAGCCATGGGACCCCGGGCCCTGAGTCGGGGGTGCAGGCCCTGAGGGGCTGAGCACAGCAGTGCTGGGTGAGGAGGCAGAAGAAGCCCCGTCGGGGCCTGAGCGAGGGGCAGAGCTAGGGCCAGGACAGCCAGGCTCAGCTCAGCACCCACTCAGGTGCCACGAGGGCCCAGGGTAGAGAAGAAAGGCCGGGGGCAGGGCCGAGTGGGGCCAAGGCTGGGCGGGGGTGGGCACTTGCCCATATCCGGCAGCCGCTGAGGCTGAAGGGGCACAGCTCACAGCTCCACTGGGACAAGGGCGGCTCCCATGGTGAGGATAAAGGCCACGGAGAAGCTTCCAGAGAGGGCAGCAGAGTGGGACGGGTCACCTGC
GTTTTTTGGAGGGTAATGAAACGACTGCAGGCCCTGACCGTATTGGCAGTGACATGAATTTATATGTGTGTTAATATTCATAGAAGCATACATTTTAAAAAGTCAGTGTAGCTGTCTGACAATTTTTTTTTTTTTTTTGAGACGGAGGTTCGCTCTTGTTGCCCAGGCTGGAGAGCAAATGGCGCAATCTCGGCTCACCGCAACCTCTGCCTCCTGGGTTCAAATGATTGTCCTGCCTCAGCCTCCCGAGTAAGCTGGGGTTACAGGCACCTACCAGCACGCCCGGCTAATTTTGTATTTTTAGTAGAGAGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCGGCCTGACAATTTTTAAAATACATTTAAAAAAGAAAGAGTGCAGAACCACATTCAACTAAAAACAGAGCCTCGAAATATATGATGTCATAACAGAGCCACAGGAAGATGTAGATATATCAGTAGAGGTGGGGAAGGACTTGAAACACTTTTCTTAGAAACTGACAGATCAGGCAGAGGGAGGCGGCTCACGCCTGTGATCCCAGCACTTTGGGGGACCGAGGCGGTTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGACCAACATGGTGAAACCCCTTGTCTACTAAAAATACAAAAATCAGCTGGGTACGGTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATTGCTTGAACCCGAGAGGCGGAGGTTGCCGTGAGCCGAGATGGAGCCACTGCACTCCAGTCTGGGCGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAATGACAGATCAAAAAGACAAAAGCATAAGGAGAACTCTAAAATTCAGAAAAGTGTGACATTAACCTTGTCTTTTATTTTCTGTATTTCTGGTGCTTTGACCTCTGGCTCCTTCCTGATCCTGAAGAGACAGCTCCTCCCAGGGCCAGCCGACAGCTACAGTGAGTAACTTGCCTCTGAGCAGTTCAGATACAAGCCACTGACCCAGGGACCACACCCCATCTGCTCTCCGTCTTAATAAAGAAGCGTCACAGGCCGGGCGCGGTGGCTCATACCTGTAATCCCAGCACTATGGGAGGCCGAGGTGGATGGATCACCTGAGGTCAGGAGTACAAGGCCAGCCTGGCCAACATGGTGAAACCTTGTCTGTACTAAAAATACAAAAATTAGCCGAGTGTGGTGGCACACGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTAGAGGTTGCAGTGAGCCGAGATGGCGCCACTACACTCCAGCCTGGGCGACAGAGCGAGATTCCTTCTCAAAAACAAAACAAAACAAAACAAAAAGGCAGTGTGGGTGTTCCCACTGGGTCCTCCTGTGTCTGCTCATTTTTCCTGCCCAACGAGAGTGGCCAGGACATACTCAAGCCTCCTCCAGCTTTCCCCAATCATCAAGTGCATTCCACATGTCACACAAAGCAGGAGGCCCTCCTTGCAGTATCTCGGATGAGGTCCTGGTTTCCTTTGGGATTTTTGTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCTTCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCCCACAACCTCTGCCCCCTACAATTTCACATTTTTGTTTAGAGGTGCATTGAACAACTGTCTTACACAGATTGGATGAAACATAGTATTATGTCACTGTTAATTTTTAAGGACTGTTGGAAAAGACATTGTTTACCAATAAATCTGTCCCGCAGAATCACGAGACTTCAATAAAGACAATTATTTTCTTTGGATGCATAAATCTCTCAACTTTAGTCAAACTCACGAGCTGTGAATAACATTTACCACCTATTTCCAGCTCAACAAACATTTGCTGACACCATTCGTGGGAGTGGGGCTGTGGGTGTCAGGCGTCTGCGCGAAGCTCGTGTGAACTCACTTTTATTGCTGATGGGTTCAGGACTAGTTTGCATCCAAACCAAATTAAACACGTAGTGGTCACAGCAAACGTGGAAACAAACAATATCTGAAAGTTGGGAATCTGAAAAACAAGGCAGGAGGGGTTTTCCTTCTTTGAATAATAAAAGAAAAAAGGTAACAGATAAACCACACTTCAGGCCATTCACTAAAAATTATCCTGATTAGGACATAATGGTGGGGAGTCCTGCGTGCTCAGCCCGCTCTCCCCTCTGTGCGGCAAAGGCTGGGCTGGGCAGGAGCTTTACTGTCTGGGGGGCAACCTCGGGGGCCCCTCTCGGTGCCACAACGTCTGTGCGTGGGCACACACACAAGCACACATGGGCACACTGTCTGTCAGCCCCTCCGGCTTTCTCCCTGGCAGAGGCTGCCTGCAAGCTAGACTCACCACATTGGCGTTCCTCCTGGAGACGGTGAAGCTCACAATTGCCGAGGGGATGCACTGGAATGAAACCGGAATCCCATGAGCCTGCCGCTCACCTGAGCAACTGAGACTCTGAAATACTCTAACATTTGCGCTTCCAGAAGGATCTGAATCATATTCACAAAACAGTGTTGCCAGTCCATGCAACACAGTGGGTTGGCTTGACTAGAAGGCCCCCAGGTACTTCTCAGTTTTAATTTTTTCTTGAGATGGGGTCTCACTCTGTTGCCCAAGCTGATCTTAACTTTGGGCTCAAATGATCTGTTCACCTCAGCTTCCCAAAGCCCTGCGATTACAGGCATGAGCCGCTGCGCCCAACCCCCAGGTACTTCAAAATAATTTATTCTGAAAGAAGTTTTTATTTTTCTGATGTGCTAAAAAGATATTTGTTAATGAAGGCTCTTCTAGCTGGATAAGCTTTGAAGCCTAGAATGTAACTCACGCAGGCACAAGACCTGGTCTTTGCTGAAAATTACCCAAAAAAGGAAAAAGTATCAGCCGGGTGCAGTGGCTCACACCTCTAGTCCCAACTACTCCGGAGGCTGAGCTGGGAGGATCTCTTGAGCCCAGGAGTTCGAGGCTGCAGTGAGCTGTGAATACTCGGTGATAGAGTGAGACCTTGTCTCAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGGAGGTCTGGTGCAGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCTGAGGCGGGTGGATCAGAGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCAGAGACGGCGCCATTGCACTCCAGCCTGTGTGACAGAGCAAGACTCCGTCAAAGAAAGAAAGAAAGAAAAAAAGAAAGAAAGAAAGAGGAAGGAAGGAGCAAAGGAAGTAGCAAGACTCTGCATGTGAGGGAGGCAGAAAGGAGTCCCACAGCCTTCTTGTCCTCAGCCTTCTTGTCCCCACAGGGCCACACCAAGGCTAGGAGTCCAGGGCCAGGGAGGGAGGTTGGGACGTCAGGGACAGGGAGGTGGATGGAGTCGGGCCAGCCCAGGCCTGTGGCCCTTGCCGTGCAGGGCCTTGCTCCTGCAGCCATGGGACCCCGGGCCCTGAGTCGGGGGTGCAGGCCCTGAGGGGCTGAGCACAGCAGTGCTGGGTGAGGAGGCAGAAGAAGCCCCGTCGGGGCCTGAGCGAGGGGCAGAGCTAGGGCCAGGACAGCCAGGCTCAGCTCAGCACCCACTCAGGTGCCACGAGGGCCCAGGGTAGAGAAGAAAGGCCGGGGGCAGGGCCGAGTGGGGCCAAGGCTGGGCGGGGGTGGGCACTTGCCCATATCCGGCAGCCGCTGAGGCTGAAGGGGCACAGCTCACAGCTCCACTGGGACAAGGGCGGCTCCCATGGTGAGGATAAAGGCCACGGAGAAGCTTCCAGAGAGGGCAGCAGAGTGGGACGGGTCACCTGC
Task1_train_28903
A variant affecting Chromosome 22, within the gene MLC1 (modulator of VRAC current 1), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Megalencephalic leukoencephalopathy with subcortical cysts 1
TTTTTTGGAGGGTAATGAAACGACTGCAGGCCCTGACCGTATTGGCAGTGACATGAATTTATATGTGTGTTAATATTCATAGAAGCATACATTTTAAAAAGTCAGTGTAGCTGTCTGACAATTTTTTTTTTTTTTTTGAGACGGAGGTTCGCTCTTGTTGCCCAGGCTGGAGAGCAAATGGCGCAATCTCGGCTCACCGCAACCTCTGCCTCCTGGGTTCAAATGATTGTCCTGCCTCAGCCTCCCGAGTAAGCTGGGGTTACAGGCACCTACCAGCACGCCCGGCTAATTTTGTATTTTTAGTAGAGAGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCGGCCTGACAATTTTTAAAATACATTTAAAAAAGAAAGAGTGCAGAACCACATTCAACTAAAAACAGAGCCTCGAAATATATGATGTCATAACAGAGCCACAGGAAGATGTAGATATATCAGTAGAGGTGGGGAAGGACTTGAAACACTTTTCTTAGAAACTGACAGATCAGGCAGAGGGAGGCGGCTCACGCCTGTGATCCCAGCACTTTGGGGGACCGAGGCGGTTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGACCAACATGGTGAAACCCCTTGTCTACTAAAAATACAAAAATCAGCTGGGTACGGTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATTGCTTGAACCCGAGAGGCGGAGGTTGCCGTGAGCCGAGATGGAGCCACTGCACTCCAGTCTGGGCGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAATGACAGATCAAAAAGACAAAAGCATAAGGAGAACTCTAAAATTCAGAAAAGTGTGACATTAACCTTGTCTTTTATTTTCTGTATTTCTGGTGCTTTGACCTCTGGCTCCTTCCTGATCCTGAAGAGACAGCTCCTCCCAGGGCCAGCCGACAGCTACAGTGAGTAACTTGCCTCTGAGCAGTTCAGATACAAGCCACTGACCCAGGGACCACACCCCATCTGCTCTCCGTCTTAATAAAGAAGCGTCACAGGCCGGGCGCGGTGGCTCATACCTGTAATCCCAGCACTATGGGAGGCCGAGGTGGATGGATCACCTGAGGTCAGGAGTACAAGGCCAGCCTGGCCAACATGGTGAAACCTTGTCTGTACTAAAAATACAAAAATTAGCCGAGTGTGGTGGCACACGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTAGAGGTTGCAGTGAGCCGAGATGGCGCCACTACACTCCAGCCTGGGCGACAGAGCGAGATTCCTTCTCAAAAACAAAACAAAACAAAACAAAAAGGCAGTGTGGGTGTTCCCACTGGGTCCTCCTGTGTCTGCTCATTTTTCCTGCCCAACGAGAGTGGCCAGGACATACTCAAGCCTCCTCCAGCTTTCCCCAATCATCAAGTGCATTCCACATGTCACACAAAGCAGGAGGCCCTCCTTGCAGTATCTCGGATGAGGTCCTGGTTTCCTTTGGGATTTTTGTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCTTCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCCCACAACCTCTGCCCCCTACAATTTCACATTTTTGTTTAGAGGTGCATTGAACAACTGTCTTACACAGATTGGATGAAACATAGTATTATGTCACTGTTAATTTTTAAGGACTGTTGGAAAAGACATTGTTTACCAATAAATCTGTCCCGCAGAATCACGAGACTTCAATAAAGACAATTATTTTCTTTGGATGCATAAATCTCTCAACTTTAGTCAAACTCACGAGCTGTGAATAACATTTACCACCTATTTCCAGCTCAACAAACATTTGCTGACACCATTCGTGGGAGTGGGGCTGTGGGTGTCAGGCGTCTGCGCGAAGCTCGTGTGAACTCACGTTTATTGCTGATGGGTTCAGGACTAGTTTGCATCCAAACCAAATTAAACACGTAGTGGTCACAGCAAACGTGGAAACAAACAATATCTGAAAGTTGGGAATCTGAAAAACAAGGCAGGAGGGGTTTTCCTTCTTTGAATAATAAAAGAAAAAAGGTAACAGATAAACCACACTTCAGGCCATTCACTAAAAATTATCCTGATTAGGACATAATGGTGGGGAGTCCTGCGTGCTCAGCCCGCTCTCCCCTCTGTGCGGCAAAGGCTGGGCTGGGCAGGAGCTTTACTGTCTGGGGGGCAACCTCGGGGGCCCCTCTCGGTGCCACAACGTCTGTGCGTGGGCACACACACAAGCACACATGGGCACACTGTCTGTCAGCCCCTCCGGCTTTCTCCCTGGCAGAGGCTGCCTGCAAGCTAGACTCACCACATTGGCGTTCCTCCTGGAGACGGTGAAGCTCACAATTGCCGAGGGGATGCACTGGAATGAAACCGGAATCCCATGAGCCTGCCGCTCACCTGAGCAACTGAGACTCTGAAATACTCTAACATTTGCGCTTCCAGAAGGATCTGAATCATATTCACAAAACAGTGTTGCCAGTCCATGCAACACAGTGGGTTGGCTTGACTAGAAGGCCCCCAGGTACTTCTCAGTTTTAATTTTTTCTTGAGATGGGGTCTCACTCTGTTGCCCAAGCTGATCTTAACTTTGGGCTCAAATGATCTGTTCACCTCAGCTTCCCAAAGCCCTGCGATTACAGGCATGAGCCGCTGCGCCCAACCCCCAGGTACTTCAAAATAATTTATTCTGAAAGAAGTTTTTATTTTTCTGATGTGCTAAAAAGATATTTGTTAATGAAGGCTCTTCTAGCTGGATAAGCTTTGAAGCCTAGAATGTAACTCACGCAGGCACAAGACCTGGTCTTTGCTGAAAATTACCCAAAAAAGGAAAAAGTATCAGCCGGGTGCAGTGGCTCACACCTCTAGTCCCAACTACTCCGGAGGCTGAGCTGGGAGGATCTCTTGAGCCCAGGAGTTCGAGGCTGCAGTGAGCTGTGAATACTCGGTGATAGAGTGAGACCTTGTCTCAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGGAGGTCTGGTGCAGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCTGAGGCGGGTGGATCAGAGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCAGAGACGGCGCCATTGCACTCCAGCCTGTGTGACAGAGCAAGACTCCGTCAAAGAAAGAAAGAAAGAAAAAAAGAAAGAAAGAAAGAGGAAGGAAGGAGCAAAGGAAGTAGCAAGACTCTGCATGTGAGGGAGGCAGAAAGGAGTCCCACAGCCTTCTTGTCCTCAGCCTTCTTGTCCCCACAGGGCCACACCAAGGCTAGGAGTCCAGGGCCAGGGAGGGAGGTTGGGACGTCAGGGACAGGGAGGTGGATGGAGTCGGGCCAGCCCAGGCCTGTGGCCCTTGCCGTGCAGGGCCTTGCTCCTGCAGCCATGGGACCCCGGGCCCTGAGTCGGGGGTGCAGGCCCTGAGGGGCTGAGCACAGCAGTGCTGGGTGAGGAGGCAGAAGAAGCCCCGTCGGGGCCTGAGCGAGGGGCAGAGCTAGGGCCAGGACAGCCAGGCTCAGCTCAGCACCCACTCAGGTGCCACGAGGGCCCAGGGTAGAGAAGAAAGGCCGGGGGCAGGGCCGAGTGGGGCCAAGGCTGGGCGGGGGTGGGCACTTGCCCATATCCGGCAGCCGCTGAGGCTGAAGGGGCACAGCTCACAGCTCCACTGGGACAAGGGCGGCTCCCATGGTGAGGATAAAGGCCACGGAGAAGCTTCCAGAGAGGGCAGCAGAGTGGGACGGGTCACCTGCC
TTTTTTGGAGGGTAATGAAACGACTGCAGGCCCTGACCGTATTGGCAGTGACATGAATTTATATGTGTGTTAATATTCATAGAAGCATACATTTTAAAAAGTCAGTGTAGCTGTCTGACAATTTTTTTTTTTTTTTTGAGACGGAGGTTCGCTCTTGTTGCCCAGGCTGGAGAGCAAATGGCGCAATCTCGGCTCACCGCAACCTCTGCCTCCTGGGTTCAAATGATTGTCCTGCCTCAGCCTCCCGAGTAAGCTGGGGTTACAGGCACCTACCAGCACGCCCGGCTAATTTTGTATTTTTAGTAGAGAGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCGGCCTGACAATTTTTAAAATACATTTAAAAAAGAAAGAGTGCAGAACCACATTCAACTAAAAACAGAGCCTCGAAATATATGATGTCATAACAGAGCCACAGGAAGATGTAGATATATCAGTAGAGGTGGGGAAGGACTTGAAACACTTTTCTTAGAAACTGACAGATCAGGCAGAGGGAGGCGGCTCACGCCTGTGATCCCAGCACTTTGGGGGACCGAGGCGGTTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGACCAACATGGTGAAACCCCTTGTCTACTAAAAATACAAAAATCAGCTGGGTACGGTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATTGCTTGAACCCGAGAGGCGGAGGTTGCCGTGAGCCGAGATGGAGCCACTGCACTCCAGTCTGGGCGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAATGACAGATCAAAAAGACAAAAGCATAAGGAGAACTCTAAAATTCAGAAAAGTGTGACATTAACCTTGTCTTTTATTTTCTGTATTTCTGGTGCTTTGACCTCTGGCTCCTTCCTGATCCTGAAGAGACAGCTCCTCCCAGGGCCAGCCGACAGCTACAGTGAGTAACTTGCCTCTGAGCAGTTCAGATACAAGCCACTGACCCAGGGACCACACCCCATCTGCTCTCCGTCTTAATAAAGAAGCGTCACAGGCCGGGCGCGGTGGCTCATACCTGTAATCCCAGCACTATGGGAGGCCGAGGTGGATGGATCACCTGAGGTCAGGAGTACAAGGCCAGCCTGGCCAACATGGTGAAACCTTGTCTGTACTAAAAATACAAAAATTAGCCGAGTGTGGTGGCACACGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTAGAGGTTGCAGTGAGCCGAGATGGCGCCACTACACTCCAGCCTGGGCGACAGAGCGAGATTCCTTCTCAAAAACAAAACAAAACAAAACAAAAAGGCAGTGTGGGTGTTCCCACTGGGTCCTCCTGTGTCTGCTCATTTTTCCTGCCCAACGAGAGTGGCCAGGACATACTCAAGCCTCCTCCAGCTTTCCCCAATCATCAAGTGCATTCCACATGTCACACAAAGCAGGAGGCCCTCCTTGCAGTATCTCGGATGAGGTCCTGGTTTCCTTTGGGATTTTTGTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCTTCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCCCACAACCTCTGCCCCCTACAATTTCACATTTTTGTTTAGAGGTGCATTGAACAACTGTCTTACACAGATTGGATGAAACATAGTATTATGTCACTGTTAATTTTTAAGGACTGTTGGAAAAGACATTGTTTACCAATAAATCTGTCCCGCAGAATCACGAGACTTCAATAAAGACAATTATTTTCTTTGGATGCATAAATCTCTCAACTTTAGTCAAACTCACGAGCTGTGAATAACATTTACCACCTATTTCCAGCTCAACAAACATTTGCTGACACCATTCGTGGGAGTGGGGCTGTGGGTGTCAGGCGTCTGCGCGAAGCTCGTGTGAACTCACGCTTATTGCTGATGGGTTCAGGACTAGTTTGCATCCAAACCAAATTAAACACGTAGTGGTCACAGCAAACGTGGAAACAAACAATATCTGAAAGTTGGGAATCTGAAAAACAAGGCAGGAGGGGTTTTCCTTCTTTGAATAATAAAAGAAAAAAGGTAACAGATAAACCACACTTCAGGCCATTCACTAAAAATTATCCTGATTAGGACATAATGGTGGGGAGTCCTGCGTGCTCAGCCCGCTCTCCCCTCTGTGCGGCAAAGGCTGGGCTGGGCAGGAGCTTTACTGTCTGGGGGGCAACCTCGGGGGCCCCTCTCGGTGCCACAACGTCTGTGCGTGGGCACACACACAAGCACACATGGGCACACTGTCTGTCAGCCCCTCCGGCTTTCTCCCTGGCAGAGGCTGCCTGCAAGCTAGACTCACCACATTGGCGTTCCTCCTGGAGACGGTGAAGCTCACAATTGCCGAGGGGATGCACTGGAATGAAACCGGAATCCCATGAGCCTGCCGCTCACCTGAGCAACTGAGACTCTGAAATACTCTAACATTTGCGCTTCCAGAAGGATCTGAATCATATTCACAAAACAGTGTTGCCAGTCCATGCAACACAGTGGGTTGGCTTGACTAGAAGGCCCCCAGGTACTTCTCAGTTTTAATTTTTTCTTGAGATGGGGTCTCACTCTGTTGCCCAAGCTGATCTTAACTTTGGGCTCAAATGATCTGTTCACCTCAGCTTCCCAAAGCCCTGCGATTACAGGCATGAGCCGCTGCGCCCAACCCCCAGGTACTTCAAAATAATTTATTCTGAAAGAAGTTTTTATTTTTCTGATGTGCTAAAAAGATATTTGTTAATGAAGGCTCTTCTAGCTGGATAAGCTTTGAAGCCTAGAATGTAACTCACGCAGGCACAAGACCTGGTCTTTGCTGAAAATTACCCAAAAAAGGAAAAAGTATCAGCCGGGTGCAGTGGCTCACACCTCTAGTCCCAACTACTCCGGAGGCTGAGCTGGGAGGATCTCTTGAGCCCAGGAGTTCGAGGCTGCAGTGAGCTGTGAATACTCGGTGATAGAGTGAGACCTTGTCTCAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGGAGGTCTGGTGCAGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCTGAGGCGGGTGGATCAGAGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCAGAGACGGCGCCATTGCACTCCAGCCTGTGTGACAGAGCAAGACTCCGTCAAAGAAAGAAAGAAAGAAAAAAAGAAAGAAAGAAAGAGGAAGGAAGGAGCAAAGGAAGTAGCAAGACTCTGCATGTGAGGGAGGCAGAAAGGAGTCCCACAGCCTTCTTGTCCTCAGCCTTCTTGTCCCCACAGGGCCACACCAAGGCTAGGAGTCCAGGGCCAGGGAGGGAGGTTGGGACGTCAGGGACAGGGAGGTGGATGGAGTCGGGCCAGCCCAGGCCTGTGGCCCTTGCCGTGCAGGGCCTTGCTCCTGCAGCCATGGGACCCCGGGCCCTGAGTCGGGGGTGCAGGCCCTGAGGGGCTGAGCACAGCAGTGCTGGGTGAGGAGGCAGAAGAAGCCCCGTCGGGGCCTGAGCGAGGGGCAGAGCTAGGGCCAGGACAGCCAGGCTCAGCTCAGCACCCACTCAGGTGCCACGAGGGCCCAGGGTAGAGAAGAAAGGCCGGGGGCAGGGCCGAGTGGGGCCAAGGCTGGGCGGGGGTGGGCACTTGCCCATATCCGGCAGCCGCTGAGGCTGAAGGGGCACAGCTCACAGCTCCACTGGGACAAGGGCGGCTCCCATGGTGAGGATAAAGGCCACGGAGAAGCTTCCAGAGAGGGCAGCAGAGTGGGACGGGTCACCTGCC
Task1_train_28904
The variant affects gene MLC1 (modulator of VRAC current 1), which is on Chromosome 22. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Megalencephalic leukoencephalopathy with subcortical cysts 1
GAATTTATATGTGTGTTAATATTCATAGAAGCATACATTTTAAAAAGTCAGTGTAGCTGTCTGACAATTTTTTTTTTTTTTTTGAGACGGAGGTTCGCTCTTGTTGCCCAGGCTGGAGAGCAAATGGCGCAATCTCGGCTCACCGCAACCTCTGCCTCCTGGGTTCAAATGATTGTCCTGCCTCAGCCTCCCGAGTAAGCTGGGGTTACAGGCACCTACCAGCACGCCCGGCTAATTTTGTATTTTTAGTAGAGAGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCGGCCTGACAATTTTTAAAATACATTTAAAAAAGAAAGAGTGCAGAACCACATTCAACTAAAAACAGAGCCTCGAAATATATGATGTCATAACAGAGCCACAGGAAGATGTAGATATATCAGTAGAGGTGGGGAAGGACTTGAAACACTTTTCTTAGAAACTGACAGATCAGGCAGAGGGAGGCGGCTCACGCCTGTGATCCCAGCACTTTGGGGGACCGAGGCGGTTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGACCAACATGGTGAAACCCCTTGTCTACTAAAAATACAAAAATCAGCTGGGTACGGTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATTGCTTGAACCCGAGAGGCGGAGGTTGCCGTGAGCCGAGATGGAGCCACTGCACTCCAGTCTGGGCGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAATGACAGATCAAAAAGACAAAAGCATAAGGAGAACTCTAAAATTCAGAAAAGTGTGACATTAACCTTGTCTTTTATTTTCTGTATTTCTGGTGCTTTGACCTCTGGCTCCTTCCTGATCCTGAAGAGACAGCTCCTCCCAGGGCCAGCCGACAGCTACAGTGAGTAACTTGCCTCTGAGCAGTTCAGATACAAGCCACTGACCCAGGGACCACACCCCATCTGCTCTCCGTCTTAATAAAGAAGCGTCACAGGCCGGGCGCGGTGGCTCATACCTGTAATCCCAGCACTATGGGAGGCCGAGGTGGATGGATCACCTGAGGTCAGGAGTACAAGGCCAGCCTGGCCAACATGGTGAAACCTTGTCTGTACTAAAAATACAAAAATTAGCCGAGTGTGGTGGCACACGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTAGAGGTTGCAGTGAGCCGAGATGGCGCCACTACACTCCAGCCTGGGCGACAGAGCGAGATTCCTTCTCAAAAACAAAACAAAACAAAACAAAAAGGCAGTGTGGGTGTTCCCACTGGGTCCTCCTGTGTCTGCTCATTTTTCCTGCCCAACGAGAGTGGCCAGGACATACTCAAGCCTCCTCCAGCTTTCCCCAATCATCAAGTGCATTCCACATGTCACACAAAGCAGGAGGCCCTCCTTGCAGTATCTCGGATGAGGTCCTGGTTTCCTTTGGGATTTTTGTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCTTCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCCCACAACCTCTGCCCCCTACAATTTCACATTTTTGTTTAGAGGTGCATTGAACAACTGTCTTACACAGATTGGATGAAACATAGTATTATGTCACTGTTAATTTTTAAGGACTGTTGGAAAAGACATTGTTTACCAATAAATCTGTCCCGCAGAATCACGAGACTTCAATAAAGACAATTATTTTCTTTGGATGCATAAATCTCTCAACTTTAGTCAAACTCACGAGCTGTGAATAACATTTACCACCTATTTCCAGCTCAACAAACATTTGCTGACACCATTCGTGGGAGTGGGGCTGTGGGTGTCAGGCGTCTGCGCGAAGCTCGTGTGAACTCACGTTTATTGCTGATGGGTTCAGGACTAGTTTGCATCCAAACCAAATTAAACACGTAGTGGTCACAGCAAACGTGGAAACAAACAATATCTGAAAGTTGGGAATCTGAAAAACAAGGCAGGAGGGGTTTTCCTTCTTTGAATAATAAAAGAAAAAAGGTAACAGATAAACCACACTTCAGGCCATTCACTAAAAATTATCCTGATTAGGACATAATGGTGGGGAGTCCTGCGTGCTCAGCCCGCTCTCCCCTCTGTGCGGCAAAGGCTGGGCTGGGCAGGAGCTTTACTGTCTGGGGGGCAACCTCGGGGGCCCCTCTCGGTGCCACAACGTCTGTGCGTGGGCACACACACAAGCACACATGGGCACACTGTCTGTCAGCCCCTCCGGCTTTCTCCCTGGCAGAGGCTGCCTGCAAGCTAGACTCACCACATTGGCGTTCCTCCTGGAGACGGTGAAGCTCACAATTGCCGAGGGGATGCACTGGAATGAAACCGGAATCCCATGAGCCTGCCGCTCACCTGAGCAACTGAGACTCTGAAATACTCTAACATTTGCGCTTCCAGAAGGATCTGAATCATATTCACAAAACAGTGTTGCCAGTCCATGCAACACAGTGGGTTGGCTTGACTAGAAGGCCCCCAGGTACTTCTCAGTTTTAATTTTTTCTTGAGATGGGGTCTCACTCTGTTGCCCAAGCTGATCTTAACTTTGGGCTCAAATGATCTGTTCACCTCAGCTTCCCAAAGCCCTGCGATTACAGGCATGAGCCGCTGCGCCCAACCCCCAGGTACTTCAAAATAATTTATTCTGAAAGAAGTTTTTATTTTTCTGATGTGCTAAAAAGATATTTGTTAATGAAGGCTCTTCTAGCTGGATAAGCTTTGAAGCCTAGAATGTAACTCACGCAGGCACAAGACCTGGTCTTTGCTGAAAATTACCCAAAAAAGGAAAAAGTATCAGCCGGGTGCAGTGGCTCACACCTCTAGTCCCAACTACTCCGGAGGCTGAGCTGGGAGGATCTCTTGAGCCCAGGAGTTCGAGGCTGCAGTGAGCTGTGAATACTCGGTGATAGAGTGAGACCTTGTCTCAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGGAGGTCTGGTGCAGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCTGAGGCGGGTGGATCAGAGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCAGAGACGGCGCCATTGCACTCCAGCCTGTGTGACAGAGCAAGACTCCGTCAAAGAAAGAAAGAAAGAAAAAAAGAAAGAAAGAAAGAGGAAGGAAGGAGCAAAGGAAGTAGCAAGACTCTGCATGTGAGGGAGGCAGAAAGGAGTCCCACAGCCTTCTTGTCCTCAGCCTTCTTGTCCCCACAGGGCCACACCAAGGCTAGGAGTCCAGGGCCAGGGAGGGAGGTTGGGACGTCAGGGACAGGGAGGTGGATGGAGTCGGGCCAGCCCAGGCCTGTGGCCCTTGCCGTGCAGGGCCTTGCTCCTGCAGCCATGGGACCCCGGGCCCTGAGTCGGGGGTGCAGGCCCTGAGGGGCTGAGCACAGCAGTGCTGGGTGAGGAGGCAGAAGAAGCCCCGTCGGGGCCTGAGCGAGGGGCAGAGCTAGGGCCAGGACAGCCAGGCTCAGCTCAGCACCCACTCAGGTGCCACGAGGGCCCAGGGTAGAGAAGAAAGGCCGGGGGCAGGGCCGAGTGGGGCCAAGGCTGGGCGGGGGTGGGCACTTGCCCATATCCGGCAGCCGCTGAGGCTGAAGGGGCACAGCTCACAGCTCCACTGGGACAAGGGCGGCTCCCATGGTGAGGATAAAGGCCACGGAGAAGCTTCCAGAGAGGGCAGCAGAGTGGGACGGGTCACCTGCCCCAAAGGGCTTTGTTCTAAGGGAGCAGAGACCCAGGACAGCACGGGGCGGGGCA
GAATTTATATGTGTGTTAATATTCATAGAAGCATACATTTTAAAAAGTCAGTGTAGCTGTCTGACAATTTTTTTTTTTTTTTTGAGACGGAGGTTCGCTCTTGTTGCCCAGGCTGGAGAGCAAATGGCGCAATCTCGGCTCACCGCAACCTCTGCCTCCTGGGTTCAAATGATTGTCCTGCCTCAGCCTCCCGAGTAAGCTGGGGTTACAGGCACCTACCAGCACGCCCGGCTAATTTTGTATTTTTAGTAGAGAGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCGGCCTGACAATTTTTAAAATACATTTAAAAAAGAAAGAGTGCAGAACCACATTCAACTAAAAACAGAGCCTCGAAATATATGATGTCATAACAGAGCCACAGGAAGATGTAGATATATCAGTAGAGGTGGGGAAGGACTTGAAACACTTTTCTTAGAAACTGACAGATCAGGCAGAGGGAGGCGGCTCACGCCTGTGATCCCAGCACTTTGGGGGACCGAGGCGGTTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGACCAACATGGTGAAACCCCTTGTCTACTAAAAATACAAAAATCAGCTGGGTACGGTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATTGCTTGAACCCGAGAGGCGGAGGTTGCCGTGAGCCGAGATGGAGCCACTGCACTCCAGTCTGGGCGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAATGACAGATCAAAAAGACAAAAGCATAAGGAGAACTCTAAAATTCAGAAAAGTGTGACATTAACCTTGTCTTTTATTTTCTGTATTTCTGGTGCTTTGACCTCTGGCTCCTTCCTGATCCTGAAGAGACAGCTCCTCCCAGGGCCAGCCGACAGCTACAGTGAGTAACTTGCCTCTGAGCAGTTCAGATACAAGCCACTGACCCAGGGACCACACCCCATCTGCTCTCCGTCTTAATAAAGAAGCGTCACAGGCCGGGCGCGGTGGCTCATACCTGTAATCCCAGCACTATGGGAGGCCGAGGTGGATGGATCACCTGAGGTCAGGAGTACAAGGCCAGCCTGGCCAACATGGTGAAACCTTGTCTGTACTAAAAATACAAAAATTAGCCGAGTGTGGTGGCACACGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTAGAGGTTGCAGTGAGCCGAGATGGCGCCACTACACTCCAGCCTGGGCGACAGAGCGAGATTCCTTCTCAAAAACAAAACAAAACAAAACAAAAAGGCAGTGTGGGTGTTCCCACTGGGTCCTCCTGTGTCTGCTCATTTTTCCTGCCCAACGAGAGTGGCCAGGACATACTCAAGCCTCCTCCAGCTTTCCCCAATCATCAAGTGCATTCCACATGTCACACAAAGCAGGAGGCCCTCCTTGCAGTATCTCGGATGAGGTCCTGGTTTCCTTTGGGATTTTTGTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCTTCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCCCACAACCTCTGCCCCCTACAATTTCACATTTTTGTTTAGAGGTGCATTGAACAACTGTCTTACACAGATTGGATGAAACATAGTATTATGTCACTGTTAATTTTTAAGGACTGTTGGAAAAGACATTGTTTACCAATAAATCTGTCCCGCAGAATCACGAGACTTCAATAAAGACAATTATTTTCTTTGGATGCATAAATCTCTCAACTTTAGTCAAACTCACGAGCTGTGAATAACATTTACCACCTATTTCCAGCTCAACAAACATTTGCTGACACCATTCGTGGGAGTGGGGCTGTGGGTGTCAGGCGTCTGCGCGAAGCTCGTGTGAACTCACGTTTATTGCTGATGGGTTCAGGACTAGTTTGCATCCAAACCAAATTAAACACGTAATGGTCACAGCAAACGTGGAAACAAACAATATCTGAAAGTTGGGAATCTGAAAAACAAGGCAGGAGGGGTTTTCCTTCTTTGAATAATAAAAGAAAAAAGGTAACAGATAAACCACACTTCAGGCCATTCACTAAAAATTATCCTGATTAGGACATAATGGTGGGGAGTCCTGCGTGCTCAGCCCGCTCTCCCCTCTGTGCGGCAAAGGCTGGGCTGGGCAGGAGCTTTACTGTCTGGGGGGCAACCTCGGGGGCCCCTCTCGGTGCCACAACGTCTGTGCGTGGGCACACACACAAGCACACATGGGCACACTGTCTGTCAGCCCCTCCGGCTTTCTCCCTGGCAGAGGCTGCCTGCAAGCTAGACTCACCACATTGGCGTTCCTCCTGGAGACGGTGAAGCTCACAATTGCCGAGGGGATGCACTGGAATGAAACCGGAATCCCATGAGCCTGCCGCTCACCTGAGCAACTGAGACTCTGAAATACTCTAACATTTGCGCTTCCAGAAGGATCTGAATCATATTCACAAAACAGTGTTGCCAGTCCATGCAACACAGTGGGTTGGCTTGACTAGAAGGCCCCCAGGTACTTCTCAGTTTTAATTTTTTCTTGAGATGGGGTCTCACTCTGTTGCCCAAGCTGATCTTAACTTTGGGCTCAAATGATCTGTTCACCTCAGCTTCCCAAAGCCCTGCGATTACAGGCATGAGCCGCTGCGCCCAACCCCCAGGTACTTCAAAATAATTTATTCTGAAAGAAGTTTTTATTTTTCTGATGTGCTAAAAAGATATTTGTTAATGAAGGCTCTTCTAGCTGGATAAGCTTTGAAGCCTAGAATGTAACTCACGCAGGCACAAGACCTGGTCTTTGCTGAAAATTACCCAAAAAAGGAAAAAGTATCAGCCGGGTGCAGTGGCTCACACCTCTAGTCCCAACTACTCCGGAGGCTGAGCTGGGAGGATCTCTTGAGCCCAGGAGTTCGAGGCTGCAGTGAGCTGTGAATACTCGGTGATAGAGTGAGACCTTGTCTCAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGGAGGTCTGGTGCAGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCTGAGGCGGGTGGATCAGAGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCAGAGACGGCGCCATTGCACTCCAGCCTGTGTGACAGAGCAAGACTCCGTCAAAGAAAGAAAGAAAGAAAAAAAGAAAGAAAGAAAGAGGAAGGAAGGAGCAAAGGAAGTAGCAAGACTCTGCATGTGAGGGAGGCAGAAAGGAGTCCCACAGCCTTCTTGTCCTCAGCCTTCTTGTCCCCACAGGGCCACACCAAGGCTAGGAGTCCAGGGCCAGGGAGGGAGGTTGGGACGTCAGGGACAGGGAGGTGGATGGAGTCGGGCCAGCCCAGGCCTGTGGCCCTTGCCGTGCAGGGCCTTGCTCCTGCAGCCATGGGACCCCGGGCCCTGAGTCGGGGGTGCAGGCCCTGAGGGGCTGAGCACAGCAGTGCTGGGTGAGGAGGCAGAAGAAGCCCCGTCGGGGCCTGAGCGAGGGGCAGAGCTAGGGCCAGGACAGCCAGGCTCAGCTCAGCACCCACTCAGGTGCCACGAGGGCCCAGGGTAGAGAAGAAAGGCCGGGGGCAGGGCCGAGTGGGGCCAAGGCTGGGCGGGGGTGGGCACTTGCCCATATCCGGCAGCCGCTGAGGCTGAAGGGGCACAGCTCACAGCTCCACTGGGACAAGGGCGGCTCCCATGGTGAGGATAAAGGCCACGGAGAAGCTTCCAGAGAGGGCAGCAGAGTGGGACGGGTCACCTGCCCCAAAGGGCTTTGTTCTAAGGGAGCAGAGACCCAGGACAGCACGGGGCGGGGCA
Task1_train_28905
This variant lies on Chromosome 22 and affects the gene LOC125446261, MLC1 (Sharpr-MPRA regulatory region 9327| modulator of VRAC current 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Megalencephalic leukoencephalopathy with subcortical cysts 1
TGTAATCCCAGTACTTTGGGAGGCTGAGGCGGGTGGATCAGAGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCAGAGACGGCGCCATTGCACTCCAGCCTGTGTGACAGAGCAAGACTCCGTCAAAGAAAGAAAGAAAGAAAAAAAGAAAGAAAGAAAGAGGAAGGAAGGAGCAAAGGAAGTAGCAAGACTCTGCATGTGAGGGAGGCAGAAAGGAGTCCCACAGCCTTCTTGTCCTCAGCCTTCTTGTCCCCACAGGGCCACACCAAGGCTAGGAGTCCAGGGCCAGGGAGGGAGGTTGGGACGTCAGGGACAGGGAGGTGGATGGAGTCGGGCCAGCCCAGGCCTGTGGCCCTTGCCGTGCAGGGCCTTGCTCCTGCAGCCATGGGACCCCGGGCCCTGAGTCGGGGGTGCAGGCCCTGAGGGGCTGAGCACAGCAGTGCTGGGTGAGGAGGCAGAAGAAGCCCCGTCGGGGCCTGAGCGAGGGGCAGAGCTAGGGCCAGGACAGCCAGGCTCAGCTCAGCACCCACTCAGGTGCCACGAGGGCCCAGGGTAGAGAAGAAAGGCCGGGGGCAGGGCCGAGTGGGGCCAAGGCTGGGCGGGGGTGGGCACTTGCCCATATCCGGCAGCCGCTGAGGCTGAAGGGGCACAGCTCACAGCTCCACTGGGACAAGGGCGGCTCCCATGGTGAGGATAAAGGCCACGGAGAAGCTTCCAGAGAGGGCAGCAGAGTGGGACGGGTCACCTGCCCCAAAGGGCTTTGTTCTAAGGGAGCAGAGACCCAGGACAGCACGGGGCGGGGCATCCACTTTGTTTTTAAGACATTTCGGGGGCGCTGCTGGGGACAGTCACCAACAGTGTCCCTAGAGAAAGGGCAGGGGCCAGAGACCCAGCAGGCATGTGGAAGCGAGAGGAGGGGAGAGCTCGGGACCAGCTGAAGCAGGAGGGGCGTGGGGTCCGCGGCTTGCGGGCCAGAGGGGCATGGGGTCCGCGGCTTGCGGGCCAGAGGGGCATGGGGTGCGCGGCTTGCGGGCCAGAGGGGCATGGGGTCCATGGCTTGCGGGCCAGAGCCCAGGGGTCAGCCAGCATGGTGCTCTAGCTGCCGGGACGCTGGGGAGGCAGTGGCCGGGGTTCACAGAGGACCAGGGGACAGCGGTTGTCTGTCCTCCCTTGCTCTGAGGATCAGTGGGTGCCTCCACCGGCCTTGGCACTGTGTAAGTTTCTAAAAACACAACATGAAGCTTTGGGAGGATGTGGGGCACAGGTCCCAGTCCCCTGAGGGCAGATGCTGCCAGCTCTGGCAGGACGCAGCCGCAGGCTCAGAATCAACACGCAATTCCCTGCACAGGCGTCTGCAGAGCAAGGTTCAGGCCTGCTTCATCAGTAATTCTCAAAGGTGATGAACTCTACGTGAAACTAAAGTCATATGAAGAGTTTTTTGTTTTTTTCTTGTTGTTGTTGTTTTGAGACGAAGTTTCACTCTCATTGCCCAGGCTGGAGTGCAGTGGCACAATCTGGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGCACCCACCACCGCGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTGTCCATGTTGGTCAGACTGGTCTCAAACACCTGACCTCAGGTGATCCACCCACCTCCACCCCTCAAAGTGCTGGCATGACAGCCATGAGCCACTGTGCCCGGCCCATATGAAGAGGTTTGAATGAGGTACAGGTGACAGAAACCTGCACATCTCAGAACAAAGAAACCAGAGCACGTGCCGGCGAGCTTGGGCACTGGCAGAGGCGTGGAGGAAGCTGCTTACAGAGCCTGCAGCACAGCGCAAGTAATCCATCTCAGCCGGGAACACGTTCCCCAGGTACAGCGAAAACCCCGAGGTCACCAGGAGGCAGCTCTGCAAGACAGCGACAGAATCCCAGGTTACAACGCGCCCCGTCCCCAGGCTGGACCCTGACCCTTCAACTTCTGCTTCACTGTCTGTGTATTGGTGACTCACCCACGTCCCCCAGCATCAACCACACCCGCACCTGGGACCCGCCCATCCTGGACTCCTCCTGTAGGACAGACGCAGCCCCGCCGCAGCCCAGGACATGGACCAGCCTCCCCCAGCCATGTCGGAGCATGGACCCCCCACGCTGTTATCTGGAGGAGAGAAGAAAGGGGATCTGCCAATATTTAGAGCAAGGAATGGCACCTCTCCCCACAAAATACTCCTGCCCCAACATGTTGTGCGTGCAGTCTTCCAGATCCCACACCCAGGTCCAGACACGAGACTGGAAAACAACTGCCCATCCCCCTCCGTCTGCAGAACCTAATTTCCAGATCTGGAAGAAGATCCCTCCAGGCAGGGGCTCCAGGCCCAGGGGCTCCTGAGCAGGGAAGACCCTAGCAGGAGGCAGGGAGGGTGCTCTCTCTCACGCACAGCACTGCAGGGGTGCGGTGGGGAGGGGGCTCTCTCTCACGCACAGCACCCCCGGGGTGAGTCTGAGGGGAGTCAGTATCAAAGGTCACTGGGACCCAGGGTCCTGGCAGAGGAAGCGAGGTCTGGGGCAGAGGGGATCTGGCCTGGGCGGGGGAGGGGCTGCGACCAAGTCCAGGGCACCAGGTGGAGGAGGGCAGAGCCCGGAGATGGCCACCACCACCCGGGAGCCGCCTCTGTCCCCAGCTCCGAGGCAGACGCCTGTCTTGGTGGGGCATGCTCAGGCCACGGGAGGTGGGCAGGACCACTGTGGGTGCTGCAGGGGCTGCCGGCGGAGGCCAGGGCACAGGGAGGGGAGAAATCACAGCCTGGATCTCATTCTCAGCCCAAGCTACACGGAACCGGGGGTCCCTGCATAGAGGCCTGTCCTGCAGCATGGCTCTGAGCAGCTGCACACACTCAGGCCCAAGTGGCTCCTCCAATCATCTCTGTGCCCACGACTGTGCAGGGAATGGCCAGGACCCCAGGGAAATCCCTCGGACATCTGGCGCTGCCCGTCCACCCCAGACCTGTTCCTTTGTTCCCCAGCTCCCTCCCAGCCGGCCCCTGAGGCCCTCCCTAGGAGGAGGAGGTCCCTGAGGTTCTCTCTGTGAGGGCCGACCTGAAGGCCTGAGACGCCTCCTCCCACCTTTGCAGGTGACCCCTCAGAGGACCCTGGGCCCCCAGAGCCGAGGGTCATGGAGACTCCTGGGGCCCATTCATGGCCCTGGGACTGTCCCTACCCTGGTGGGACTAAGCCACAACCTGGAGCAGCTCAAGGCTGGCACAACAGACACCCATAAATTAATAAAAATAATTGTGAAAACACAAGCAAAACAAGCTCGTCGGCATCCAAGAGTTCTGCAGCAGCAGGGTTAGTCTGAGAGTTGCTCTCTCTGTCCCACCTGGGGCTCCAGGGCGCTGCAGTCCGTCACCAGAGGGACCAGATGCTCGTGGCCCTCCAAGGGCTTAGTGTGGAGCTACTCACCCCCATCAGCACAGAGAAGACCCACGTCTTGTGGCTGAAGCAGGGGGGCAGTCTCTTCGACAGCTGCAGGTCGCTCGGCTTCGCGTCTGGGGCATAGCTGGCGGGGTCTTGCCGGCCCCGCTCCAGCGTGGGCATCCGGTCATAGGCCAGCTCCTCTCTGAATGGCTCCTGGGTCATGGCACTTGGGGACACCACAGCTGTGCTGAATGTACAGCCACGTGTCACCAGTTCTTTATCTGGAATAAAATTATCATCGGCTTTGGCCACTCTGAGGAAACTTCAATAAGTTGTTTCCAAGAAATATTTTTTAACAAAAGAAATATTGTTCATACTGAAGTGCTCTAAATTTGAAGAAGAAAATGAGCACTTGAATCTAAAAGTGAAAAAGAAATAACTTTCCTAGAAAAACGGACCTGAATAGTCTGGGTTCAGGGTGAGATTCTACACTTTAAATG
TGTAATCCCAGTACTTTGGGAGGCTGAGGCGGGTGGATCAGAGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCAGAGACGGCGCCATTGCACTCCAGCCTGTGTGACAGAGCAAGACTCCGTCAAAGAAAGAAAGAAAGAAAAAAAGAAAGAAAGAAAGAGGAAGGAAGGAGCAAAGGAAGTAGCAAGACTCTGCATGTGAGGGAGGCAGAAAGGAGTCCCACAGCCTTCTTGTCCTCAGCCTTCTTGTCCCCACAGGGCCACACCAAGGCTAGGAGTCCAGGGCCAGGGAGGGAGGTTGGGACGTCAGGGACAGGGAGGTGGATGGAGTCGGGCCAGCCCAGGCCTGTGGCCCTTGCCGTGCAGGGCCTTGCTCCTGCAGCCATGGGACCCCGGGCCCTGAGTCGGGGGTGCAGGCCCTGAGGGGCTGAGCACAGCAGTGCTGGGTGAGGAGGCAGAAGAAGCCCCGTCGGGGCCTGAGCGAGGGGCAGAGCTAGGGCCAGGACAGCCAGGCTCAGCTCAGCACCCACTCAGGTGCCACGAGGGCCCAGGGTAGAGAAGAAAGGCCGGGGGCAGGGCCGAGTGGGGCCAAGGCTGGGCGGGGGTGGGCACTTGCCCATATCCGGCAGCCGCTGAGGCTGAAGGGGCACAGCTCACAGCTCCACTGGGACAAGGGCGGCTCCCATGGTGAGGATAAAGGCCACGGAGAAGCTTCCAGAGAGGGCAGCAGAGTGGGACGGGTCACCTGCCCCAAAGGGCTTTGTTCTAAGGGAGCAGAGACCCAGGACAGCACGGGGCGGGGCATCCACTTTGTTTTTAAGACATTTCGGGGGCGCTGCTGGGGACAGTCACCAACAGTGTCCCTAGAGAAAGGGCAGGGGCCAGAGACCCAGCAGGCATGTGGAAGCGAGAGGAGGGGAGAGCTCGGGACCAGCTGAAGCAGGAGGGGCGTGGGGTCCGCGGCTTGCGGGCCAGAGGGGCATGGGGTCCGCGGCTTGCGGGCCAGAGGGGCATGGGGTGCGCGGCTTGCGGGCCAGAGGGGCATGGGGTCCATGGCTTGCGGGCCAGAGCCCAGGGGTCAGCCAGCATGGTGCTCTAGCTGCCGGGACGCTGGGGAGGCAGTGGCCGGGGTTCACAGAGGACCAGGGGACAGCGGTTGTCTGTCCTCCCTTGCTCTGAGGATCAGTGGGTGCCTCCACCGGCCTTGGCACTGTGTAAGTTTCTAAAAACACAACATGAAGCTTTGGGAGGATGTGGGGCACAGGTCCCAGTCCCCTGAGGGCAGATGCTGCCAGCTCTGGCAGGACGCAGCCGCAGGCTCAGAATCAACACGCAATTCCCTGCACAGGCGTCTGCAGAGCAAGGTTCAGGCCTGCTTCATCAGTAATTCTCAAAGGTGATGAACTCTACGTGAAACTAAAGTCATATGAAGAGTTTTTTGTTTTTTTCTTGTTGTTGTTGTTTTGAGACGAAGTTTCACTCTCATTGCCCAGGCTGGAGTGCAGTGGCACAATCTGGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGCACCCACCACCGCGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTGTCCATGTTGGTCAGACTGGTCTCAAACACCTGACCTCAGGTGATCCACCCACCTCCACCCCTCAAAGTGCTGGCATGACAGCCATGAGCCACTGTGCCCGGCCCATATGAAGAGGTTTGAATGAGGTACAGGTGACAGAAACCTGCACATCTCAGAACAAAGAAACCAGAGCACGTGCCGGCGAGCTTGGGCACTGGCAGAGGCGTGGAGGAAGCTGCTTACAGAGCCTGCAGCACAGCGCAAGTAATCCATCTCAGCCGGGAACACGTTCTCCAGGTACAGCGAAAACCCCGAGGTCACCAGGAGGCAGCTCTGCAAGACAGCGACAGAATCCCAGGTTACAACGCGCCCCGTCCCCAGGCTGGACCCTGACCCTTCAACTTCTGCTTCACTGTCTGTGTATTGGTGACTCACCCACGTCCCCCAGCATCAACCACACCCGCACCTGGGACCCGCCCATCCTGGACTCCTCCTGTAGGACAGACGCAGCCCCGCCGCAGCCCAGGACATGGACCAGCCTCCCCCAGCCATGTCGGAGCATGGACCCCCCACGCTGTTATCTGGAGGAGAGAAGAAAGGGGATCTGCCAATATTTAGAGCAAGGAATGGCACCTCTCCCCACAAAATACTCCTGCCCCAACATGTTGTGCGTGCAGTCTTCCAGATCCCACACCCAGGTCCAGACACGAGACTGGAAAACAACTGCCCATCCCCCTCCGTCTGCAGAACCTAATTTCCAGATCTGGAAGAAGATCCCTCCAGGCAGGGGCTCCAGGCCCAGGGGCTCCTGAGCAGGGAAGACCCTAGCAGGAGGCAGGGAGGGTGCTCTCTCTCACGCACAGCACTGCAGGGGTGCGGTGGGGAGGGGGCTCTCTCTCACGCACAGCACCCCCGGGGTGAGTCTGAGGGGAGTCAGTATCAAAGGTCACTGGGACCCAGGGTCCTGGCAGAGGAAGCGAGGTCTGGGGCAGAGGGGATCTGGCCTGGGCGGGGGAGGGGCTGCGACCAAGTCCAGGGCACCAGGTGGAGGAGGGCAGAGCCCGGAGATGGCCACCACCACCCGGGAGCCGCCTCTGTCCCCAGCTCCGAGGCAGACGCCTGTCTTGGTGGGGCATGCTCAGGCCACGGGAGGTGGGCAGGACCACTGTGGGTGCTGCAGGGGCTGCCGGCGGAGGCCAGGGCACAGGGAGGGGAGAAATCACAGCCTGGATCTCATTCTCAGCCCAAGCTACACGGAACCGGGGGTCCCTGCATAGAGGCCTGTCCTGCAGCATGGCTCTGAGCAGCTGCACACACTCAGGCCCAAGTGGCTCCTCCAATCATCTCTGTGCCCACGACTGTGCAGGGAATGGCCAGGACCCCAGGGAAATCCCTCGGACATCTGGCGCTGCCCGTCCACCCCAGACCTGTTCCTTTGTTCCCCAGCTCCCTCCCAGCCGGCCCCTGAGGCCCTCCCTAGGAGGAGGAGGTCCCTGAGGTTCTCTCTGTGAGGGCCGACCTGAAGGCCTGAGACGCCTCCTCCCACCTTTGCAGGTGACCCCTCAGAGGACCCTGGGCCCCCAGAGCCGAGGGTCATGGAGACTCCTGGGGCCCATTCATGGCCCTGGGACTGTCCCTACCCTGGTGGGACTAAGCCACAACCTGGAGCAGCTCAAGGCTGGCACAACAGACACCCATAAATTAATAAAAATAATTGTGAAAACACAAGCAAAACAAGCTCGTCGGCATCCAAGAGTTCTGCAGCAGCAGGGTTAGTCTGAGAGTTGCTCTCTCTGTCCCACCTGGGGCTCCAGGGCGCTGCAGTCCGTCACCAGAGGGACCAGATGCTCGTGGCCCTCCAAGGGCTTAGTGTGGAGCTACTCACCCCCATCAGCACAGAGAAGACCCACGTCTTGTGGCTGAAGCAGGGGGGCAGTCTCTTCGACAGCTGCAGGTCGCTCGGCTTCGCGTCTGGGGCATAGCTGGCGGGGTCTTGCCGGCCCCGCTCCAGCGTGGGCATCCGGTCATAGGCCAGCTCCTCTCTGAATGGCTCCTGGGTCATGGCACTTGGGGACACCACAGCTGTGCTGAATGTACAGCCACGTGTCACCAGTTCTTTATCTGGAATAAAATTATCATCGGCTTTGGCCACTCTGAGGAAACTTCAATAAGTTGTTTCCAAGAAATATTTTTTAACAAAAGAAATATTGTTCATACTGAAGTGCTCTAAATTTGAAGAAGAAAATGAGCACTTGAATCTAAAAGTGAAAAAGAAATAACTTTCCTAGAAAAACGGACCTGAATAGTCTGGGTTCAGGGTGAGATTCTACACTTTAAATG
Task1_train_28906
Here is a genetic alteration in LOC125446261, MLC1 (Sharpr-MPRA regulatory region 9327| modulator of VRAC current 1) on Chromosome 22. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Megalencephalic leukoencephalopathy with subcortical cysts 1
ACTTTGGGAGGCTGAGGCGGGTGGATCAGAGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCAGAGACGGCGCCATTGCACTCCAGCCTGTGTGACAGAGCAAGACTCCGTCAAAGAAAGAAAGAAAGAAAAAAAGAAAGAAAGAAAGAGGAAGGAAGGAGCAAAGGAAGTAGCAAGACTCTGCATGTGAGGGAGGCAGAAAGGAGTCCCACAGCCTTCTTGTCCTCAGCCTTCTTGTCCCCACAGGGCCACACCAAGGCTAGGAGTCCAGGGCCAGGGAGGGAGGTTGGGACGTCAGGGACAGGGAGGTGGATGGAGTCGGGCCAGCCCAGGCCTGTGGCCCTTGCCGTGCAGGGCCTTGCTCCTGCAGCCATGGGACCCCGGGCCCTGAGTCGGGGGTGCAGGCCCTGAGGGGCTGAGCACAGCAGTGCTGGGTGAGGAGGCAGAAGAAGCCCCGTCGGGGCCTGAGCGAGGGGCAGAGCTAGGGCCAGGACAGCCAGGCTCAGCTCAGCACCCACTCAGGTGCCACGAGGGCCCAGGGTAGAGAAGAAAGGCCGGGGGCAGGGCCGAGTGGGGCCAAGGCTGGGCGGGGGTGGGCACTTGCCCATATCCGGCAGCCGCTGAGGCTGAAGGGGCACAGCTCACAGCTCCACTGGGACAAGGGCGGCTCCCATGGTGAGGATAAAGGCCACGGAGAAGCTTCCAGAGAGGGCAGCAGAGTGGGACGGGTCACCTGCCCCAAAGGGCTTTGTTCTAAGGGAGCAGAGACCCAGGACAGCACGGGGCGGGGCATCCACTTTGTTTTTAAGACATTTCGGGGGCGCTGCTGGGGACAGTCACCAACAGTGTCCCTAGAGAAAGGGCAGGGGCCAGAGACCCAGCAGGCATGTGGAAGCGAGAGGAGGGGAGAGCTCGGGACCAGCTGAAGCAGGAGGGGCGTGGGGTCCGCGGCTTGCGGGCCAGAGGGGCATGGGGTCCGCGGCTTGCGGGCCAGAGGGGCATGGGGTGCGCGGCTTGCGGGCCAGAGGGGCATGGGGTCCATGGCTTGCGGGCCAGAGCCCAGGGGTCAGCCAGCATGGTGCTCTAGCTGCCGGGACGCTGGGGAGGCAGTGGCCGGGGTTCACAGAGGACCAGGGGACAGCGGTTGTCTGTCCTCCCTTGCTCTGAGGATCAGTGGGTGCCTCCACCGGCCTTGGCACTGTGTAAGTTTCTAAAAACACAACATGAAGCTTTGGGAGGATGTGGGGCACAGGTCCCAGTCCCCTGAGGGCAGATGCTGCCAGCTCTGGCAGGACGCAGCCGCAGGCTCAGAATCAACACGCAATTCCCTGCACAGGCGTCTGCAGAGCAAGGTTCAGGCCTGCTTCATCAGTAATTCTCAAAGGTGATGAACTCTACGTGAAACTAAAGTCATATGAAGAGTTTTTTGTTTTTTTCTTGTTGTTGTTGTTTTGAGACGAAGTTTCACTCTCATTGCCCAGGCTGGAGTGCAGTGGCACAATCTGGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGCACCCACCACCGCGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTGTCCATGTTGGTCAGACTGGTCTCAAACACCTGACCTCAGGTGATCCACCCACCTCCACCCCTCAAAGTGCTGGCATGACAGCCATGAGCCACTGTGCCCGGCCCATATGAAGAGGTTTGAATGAGGTACAGGTGACAGAAACCTGCACATCTCAGAACAAAGAAACCAGAGCACGTGCCGGCGAGCTTGGGCACTGGCAGAGGCGTGGAGGAAGCTGCTTACAGAGCCTGCAGCACAGCGCAAGTAATCCATCTCAGCCGGGAACACGTTCCCCAGGTACAGCGAAAACCCCGAGGTCACCAGGAGGCAGCTCTGCAAGACAGCGACAGAATCCCAGGTTACAACGCGCCCCGTCCCCAGGCTGGACCCTGACCCTTCAACTTCTGCTTCACTGTCTGTGTATTGGTGACTCACCCACGTCCCCCAGCATCAACCACACCCGCACCTGGGACCCGCCCATCCTGGACTCCTCCTGTAGGACAGACGCAGCCCCGCCGCAGCCCAGGACATGGACCAGCCTCCCCCAGCCATGTCGGAGCATGGACCCCCCACGCTGTTATCTGGAGGAGAGAAGAAAGGGGATCTGCCAATATTTAGAGCAAGGAATGGCACCTCTCCCCACAAAATACTCCTGCCCCAACATGTTGTGCGTGCAGTCTTCCAGATCCCACACCCAGGTCCAGACACGAGACTGGAAAACAACTGCCCATCCCCCTCCGTCTGCAGAACCTAATTTCCAGATCTGGAAGAAGATCCCTCCAGGCAGGGGCTCCAGGCCCAGGGGCTCCTGAGCAGGGAAGACCCTAGCAGGAGGCAGGGAGGGTGCTCTCTCTCACGCACAGCACTGCAGGGGTGCGGTGGGGAGGGGGCTCTCTCTCACGCACAGCACCCCCGGGGTGAGTCTGAGGGGAGTCAGTATCAAAGGTCACTGGGACCCAGGGTCCTGGCAGAGGAAGCGAGGTCTGGGGCAGAGGGGATCTGGCCTGGGCGGGGGAGGGGCTGCGACCAAGTCCAGGGCACCAGGTGGAGGAGGGCAGAGCCCGGAGATGGCCACCACCACCCGGGAGCCGCCTCTGTCCCCAGCTCCGAGGCAGACGCCTGTCTTGGTGGGGCATGCTCAGGCCACGGGAGGTGGGCAGGACCACTGTGGGTGCTGCAGGGGCTGCCGGCGGAGGCCAGGGCACAGGGAGGGGAGAAATCACAGCCTGGATCTCATTCTCAGCCCAAGCTACACGGAACCGGGGGTCCCTGCATAGAGGCCTGTCCTGCAGCATGGCTCTGAGCAGCTGCACACACTCAGGCCCAAGTGGCTCCTCCAATCATCTCTGTGCCCACGACTGTGCAGGGAATGGCCAGGACCCCAGGGAAATCCCTCGGACATCTGGCGCTGCCCGTCCACCCCAGACCTGTTCCTTTGTTCCCCAGCTCCCTCCCAGCCGGCCCCTGAGGCCCTCCCTAGGAGGAGGAGGTCCCTGAGGTTCTCTCTGTGAGGGCCGACCTGAAGGCCTGAGACGCCTCCTCCCACCTTTGCAGGTGACCCCTCAGAGGACCCTGGGCCCCCAGAGCCGAGGGTCATGGAGACTCCTGGGGCCCATTCATGGCCCTGGGACTGTCCCTACCCTGGTGGGACTAAGCCACAACCTGGAGCAGCTCAAGGCTGGCACAACAGACACCCATAAATTAATAAAAATAATTGTGAAAACACAAGCAAAACAAGCTCGTCGGCATCCAAGAGTTCTGCAGCAGCAGGGTTAGTCTGAGAGTTGCTCTCTCTGTCCCACCTGGGGCTCCAGGGCGCTGCAGTCCGTCACCAGAGGGACCAGATGCTCGTGGCCCTCCAAGGGCTTAGTGTGGAGCTACTCACCCCCATCAGCACAGAGAAGACCCACGTCTTGTGGCTGAAGCAGGGGGGCAGTCTCTTCGACAGCTGCAGGTCGCTCGGCTTCGCGTCTGGGGCATAGCTGGCGGGGTCTTGCCGGCCCCGCTCCAGCGTGGGCATCCGGTCATAGGCCAGCTCCTCTCTGAATGGCTCCTGGGTCATGGCACTTGGGGACACCACAGCTGTGCTGAATGTACAGCCACGTGTCACCAGTTCTTTATCTGGAATAAAATTATCATCGGCTTTGGCCACTCTGAGGAAACTTCAATAAGTTGTTTCCAAGAAATATTTTTTAACAAAAGAAATATTGTTCATACTGAAGTGCTCTAAATTTGAAGAAGAAAATGAGCACTTGAATCTAAAAGTGAAAAAGAAATAACTTTCCTAGAAAAACGGACCTGAATAGTCTGGGTTCAGGGTGAGATTCTACACTTTAAATGCCTCATTGATCC
ACTTTGGGAGGCTGAGGCGGGTGGATCAGAGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCAGAGACGGCGCCATTGCACTCCAGCCTGTGTGACAGAGCAAGACTCCGTCAAAGAAAGAAAGAAAGAAAAAAAGAAAGAAAGAAAGAGGAAGGAAGGAGCAAAGGAAGTAGCAAGACTCTGCATGTGAGGGAGGCAGAAAGGAGTCCCACAGCCTTCTTGTCCTCAGCCTTCTTGTCCCCACAGGGCCACACCAAGGCTAGGAGTCCAGGGCCAGGGAGGGAGGTTGGGACGTCAGGGACAGGGAGGTGGATGGAGTCGGGCCAGCCCAGGCCTGTGGCCCTTGCCGTGCAGGGCCTTGCTCCTGCAGCCATGGGACCCCGGGCCCTGAGTCGGGGGTGCAGGCCCTGAGGGGCTGAGCACAGCAGTGCTGGGTGAGGAGGCAGAAGAAGCCCCGTCGGGGCCTGAGCGAGGGGCAGAGCTAGGGCCAGGACAGCCAGGCTCAGCTCAGCACCCACTCAGGTGCCACGAGGGCCCAGGGTAGAGAAGAAAGGCCGGGGGCAGGGCCGAGTGGGGCCAAGGCTGGGCGGGGGTGGGCACTTGCCCATATCCGGCAGCCGCTGAGGCTGAAGGGGCACAGCTCACAGCTCCACTGGGACAAGGGCGGCTCCCATGGTGAGGATAAAGGCCACGGAGAAGCTTCCAGAGAGGGCAGCAGAGTGGGACGGGTCACCTGCCCCAAAGGGCTTTGTTCTAAGGGAGCAGAGACCCAGGACAGCACGGGGCGGGGCATCCACTTTGTTTTTAAGACATTTCGGGGGCGCTGCTGGGGACAGTCACCAACAGTGTCCCTAGAGAAAGGGCAGGGGCCAGAGACCCAGCAGGCATGTGGAAGCGAGAGGAGGGGAGAGCTCGGGACCAGCTGAAGCAGGAGGGGCGTGGGGTCCGCGGCTTGCGGGCCAGAGGGGCATGGGGTCCGCGGCTTGCGGGCCAGAGGGGCATGGGGTGCGCGGCTTGCGGGCCAGAGGGGCATGGGGTCCATGGCTTGCGGGCCAGAGCCCAGGGGTCAGCCAGCATGGTGCTCTAGCTGCCGGGACGCTGGGGAGGCAGTGGCCGGGGTTCACAGAGGACCAGGGGACAGCGGTTGTCTGTCCTCCCTTGCTCTGAGGATCAGTGGGTGCCTCCACCGGCCTTGGCACTGTGTAAGTTTCTAAAAACACAACATGAAGCTTTGGGAGGATGTGGGGCACAGGTCCCAGTCCCCTGAGGGCAGATGCTGCCAGCTCTGGCAGGACGCAGCCGCAGGCTCAGAATCAACACGCAATTCCCTGCACAGGCGTCTGCAGAGCAAGGTTCAGGCCTGCTTCATCAGTAATTCTCAAAGGTGATGAACTCTACGTGAAACTAAAGTCATATGAAGAGTTTTTTGTTTTTTTCTTGTTGTTGTTGTTTTGAGACGAAGTTTCACTCTCATTGCCCAGGCTGGAGTGCAGTGGCACAATCTGGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGCACCCACCACCGCGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTGTCCATGTTGGTCAGACTGGTCTCAAACACCTGACCTCAGGTGATCCACCCACCTCCACCCCTCAAAGTGCTGGCATGACAGCCATGAGCCACTGTGCCCGGCCCATATGAAGAGGTTTGAATGAGGTACAGGTGACAGAAACCTGCACATCTCAGAACAAAGAAACCAGAGCACGTGCCGGCGAGCTTGGGCACTGGCAGAGGCGTGGAGGAAGCTGCTTACAGAGCCTGCAGCACAGCGCAAGTAATCCATCTCAGCCGGGAACACGTTCCCCAGGTACAGCAAAAACCCCGAGGTCACCAGGAGGCAGCTCTGCAAGACAGCGACAGAATCCCAGGTTACAACGCGCCCCGTCCCCAGGCTGGACCCTGACCCTTCAACTTCTGCTTCACTGTCTGTGTATTGGTGACTCACCCACGTCCCCCAGCATCAACCACACCCGCACCTGGGACCCGCCCATCCTGGACTCCTCCTGTAGGACAGACGCAGCCCCGCCGCAGCCCAGGACATGGACCAGCCTCCCCCAGCCATGTCGGAGCATGGACCCCCCACGCTGTTATCTGGAGGAGAGAAGAAAGGGGATCTGCCAATATTTAGAGCAAGGAATGGCACCTCTCCCCACAAAATACTCCTGCCCCAACATGTTGTGCGTGCAGTCTTCCAGATCCCACACCCAGGTCCAGACACGAGACTGGAAAACAACTGCCCATCCCCCTCCGTCTGCAGAACCTAATTTCCAGATCTGGAAGAAGATCCCTCCAGGCAGGGGCTCCAGGCCCAGGGGCTCCTGAGCAGGGAAGACCCTAGCAGGAGGCAGGGAGGGTGCTCTCTCTCACGCACAGCACTGCAGGGGTGCGGTGGGGAGGGGGCTCTCTCTCACGCACAGCACCCCCGGGGTGAGTCTGAGGGGAGTCAGTATCAAAGGTCACTGGGACCCAGGGTCCTGGCAGAGGAAGCGAGGTCTGGGGCAGAGGGGATCTGGCCTGGGCGGGGGAGGGGCTGCGACCAAGTCCAGGGCACCAGGTGGAGGAGGGCAGAGCCCGGAGATGGCCACCACCACCCGGGAGCCGCCTCTGTCCCCAGCTCCGAGGCAGACGCCTGTCTTGGTGGGGCATGCTCAGGCCACGGGAGGTGGGCAGGACCACTGTGGGTGCTGCAGGGGCTGCCGGCGGAGGCCAGGGCACAGGGAGGGGAGAAATCACAGCCTGGATCTCATTCTCAGCCCAAGCTACACGGAACCGGGGGTCCCTGCATAGAGGCCTGTCCTGCAGCATGGCTCTGAGCAGCTGCACACACTCAGGCCCAAGTGGCTCCTCCAATCATCTCTGTGCCCACGACTGTGCAGGGAATGGCCAGGACCCCAGGGAAATCCCTCGGACATCTGGCGCTGCCCGTCCACCCCAGACCTGTTCCTTTGTTCCCCAGCTCCCTCCCAGCCGGCCCCTGAGGCCCTCCCTAGGAGGAGGAGGTCCCTGAGGTTCTCTCTGTGAGGGCCGACCTGAAGGCCTGAGACGCCTCCTCCCACCTTTGCAGGTGACCCCTCAGAGGACCCTGGGCCCCCAGAGCCGAGGGTCATGGAGACTCCTGGGGCCCATTCATGGCCCTGGGACTGTCCCTACCCTGGTGGGACTAAGCCACAACCTGGAGCAGCTCAAGGCTGGCACAACAGACACCCATAAATTAATAAAAATAATTGTGAAAACACAAGCAAAACAAGCTCGTCGGCATCCAAGAGTTCTGCAGCAGCAGGGTTAGTCTGAGAGTTGCTCTCTCTGTCCCACCTGGGGCTCCAGGGCGCTGCAGTCCGTCACCAGAGGGACCAGATGCTCGTGGCCCTCCAAGGGCTTAGTGTGGAGCTACTCACCCCCATCAGCACAGAGAAGACCCACGTCTTGTGGCTGAAGCAGGGGGGCAGTCTCTTCGACAGCTGCAGGTCGCTCGGCTTCGCGTCTGGGGCATAGCTGGCGGGGTCTTGCCGGCCCCGCTCCAGCGTGGGCATCCGGTCATAGGCCAGCTCCTCTCTGAATGGCTCCTGGGTCATGGCACTTGGGGACACCACAGCTGTGCTGAATGTACAGCCACGTGTCACCAGTTCTTTATCTGGAATAAAATTATCATCGGCTTTGGCCACTCTGAGGAAACTTCAATAAGTTGTTTCCAAGAAATATTTTTTAACAAAAGAAATATTGTTCATACTGAAGTGCTCTAAATTTGAAGAAGAAAATGAGCACTTGAATCTAAAAGTGAAAAAGAAATAACTTTCCTAGAAAAACGGACCTGAATAGTCTGGGTTCAGGGTGAGATTCTACACTTTAAATGCCTCATTGATCC
Task1_train_28907
The following genetic variant occurs in LOC125446261, MLC1 (Sharpr-MPRA regulatory region 9327| modulator of VRAC current 1) on Chromosome 22. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Megalencephalic leukoencephalopathy with subcortical cysts
ACTTTGGGAGGCTGAGGCGGGTGGATCAGAGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCAGAGACGGCGCCATTGCACTCCAGCCTGTGTGACAGAGCAAGACTCCGTCAAAGAAAGAAAGAAAGAAAAAAAGAAAGAAAGAAAGAGGAAGGAAGGAGCAAAGGAAGTAGCAAGACTCTGCATGTGAGGGAGGCAGAAAGGAGTCCCACAGCCTTCTTGTCCTCAGCCTTCTTGTCCCCACAGGGCCACACCAAGGCTAGGAGTCCAGGGCCAGGGAGGGAGGTTGGGACGTCAGGGACAGGGAGGTGGATGGAGTCGGGCCAGCCCAGGCCTGTGGCCCTTGCCGTGCAGGGCCTTGCTCCTGCAGCCATGGGACCCCGGGCCCTGAGTCGGGGGTGCAGGCCCTGAGGGGCTGAGCACAGCAGTGCTGGGTGAGGAGGCAGAAGAAGCCCCGTCGGGGCCTGAGCGAGGGGCAGAGCTAGGGCCAGGACAGCCAGGCTCAGCTCAGCACCCACTCAGGTGCCACGAGGGCCCAGGGTAGAGAAGAAAGGCCGGGGGCAGGGCCGAGTGGGGCCAAGGCTGGGCGGGGGTGGGCACTTGCCCATATCCGGCAGCCGCTGAGGCTGAAGGGGCACAGCTCACAGCTCCACTGGGACAAGGGCGGCTCCCATGGTGAGGATAAAGGCCACGGAGAAGCTTCCAGAGAGGGCAGCAGAGTGGGACGGGTCACCTGCCCCAAAGGGCTTTGTTCTAAGGGAGCAGAGACCCAGGACAGCACGGGGCGGGGCATCCACTTTGTTTTTAAGACATTTCGGGGGCGCTGCTGGGGACAGTCACCAACAGTGTCCCTAGAGAAAGGGCAGGGGCCAGAGACCCAGCAGGCATGTGGAAGCGAGAGGAGGGGAGAGCTCGGGACCAGCTGAAGCAGGAGGGGCGTGGGGTCCGCGGCTTGCGGGCCAGAGGGGCATGGGGTCCGCGGCTTGCGGGCCAGAGGGGCATGGGGTGCGCGGCTTGCGGGCCAGAGGGGCATGGGGTCCATGGCTTGCGGGCCAGAGCCCAGGGGTCAGCCAGCATGGTGCTCTAGCTGCCGGGACGCTGGGGAGGCAGTGGCCGGGGTTCACAGAGGACCAGGGGACAGCGGTTGTCTGTCCTCCCTTGCTCTGAGGATCAGTGGGTGCCTCCACCGGCCTTGGCACTGTGTAAGTTTCTAAAAACACAACATGAAGCTTTGGGAGGATGTGGGGCACAGGTCCCAGTCCCCTGAGGGCAGATGCTGCCAGCTCTGGCAGGACGCAGCCGCAGGCTCAGAATCAACACGCAATTCCCTGCACAGGCGTCTGCAGAGCAAGGTTCAGGCCTGCTTCATCAGTAATTCTCAAAGGTGATGAACTCTACGTGAAACTAAAGTCATATGAAGAGTTTTTTGTTTTTTTCTTGTTGTTGTTGTTTTGAGACGAAGTTTCACTCTCATTGCCCAGGCTGGAGTGCAGTGGCACAATCTGGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGCACCCACCACCGCGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTGTCCATGTTGGTCAGACTGGTCTCAAACACCTGACCTCAGGTGATCCACCCACCTCCACCCCTCAAAGTGCTGGCATGACAGCCATGAGCCACTGTGCCCGGCCCATATGAAGAGGTTTGAATGAGGTACAGGTGACAGAAACCTGCACATCTCAGAACAAAGAAACCAGAGCACGTGCCGGCGAGCTTGGGCACTGGCAGAGGCGTGGAGGAAGCTGCTTACAGAGCCTGCAGCACAGCGCAAGTAATCCATCTCAGCCGGGAACACGTTCCCCAGGTACAGCGAAAACCCCGAGGTCACCAGGAGGCAGCTCTGCAAGACAGCGACAGAATCCCAGGTTACAACGCGCCCCGTCCCCAGGCTGGACCCTGACCCTTCAACTTCTGCTTCACTGTCTGTGTATTGGTGACTCACCCACGTCCCCCAGCATCAACCACACCCGCACCTGGGACCCGCCCATCCTGGACTCCTCCTGTAGGACAGACGCAGCCCCGCCGCAGCCCAGGACATGGACCAGCCTCCCCCAGCCATGTCGGAGCATGGACCCCCCACGCTGTTATCTGGAGGAGAGAAGAAAGGGGATCTGCCAATATTTAGAGCAAGGAATGGCACCTCTCCCCACAAAATACTCCTGCCCCAACATGTTGTGCGTGCAGTCTTCCAGATCCCACACCCAGGTCCAGACACGAGACTGGAAAACAACTGCCCATCCCCCTCCGTCTGCAGAACCTAATTTCCAGATCTGGAAGAAGATCCCTCCAGGCAGGGGCTCCAGGCCCAGGGGCTCCTGAGCAGGGAAGACCCTAGCAGGAGGCAGGGAGGGTGCTCTCTCTCACGCACAGCACTGCAGGGGTGCGGTGGGGAGGGGGCTCTCTCTCACGCACAGCACCCCCGGGGTGAGTCTGAGGGGAGTCAGTATCAAAGGTCACTGGGACCCAGGGTCCTGGCAGAGGAAGCGAGGTCTGGGGCAGAGGGGATCTGGCCTGGGCGGGGGAGGGGCTGCGACCAAGTCCAGGGCACCAGGTGGAGGAGGGCAGAGCCCGGAGATGGCCACCACCACCCGGGAGCCGCCTCTGTCCCCAGCTCCGAGGCAGACGCCTGTCTTGGTGGGGCATGCTCAGGCCACGGGAGGTGGGCAGGACCACTGTGGGTGCTGCAGGGGCTGCCGGCGGAGGCCAGGGCACAGGGAGGGGAGAAATCACAGCCTGGATCTCATTCTCAGCCCAAGCTACACGGAACCGGGGGTCCCTGCATAGAGGCCTGTCCTGCAGCATGGCTCTGAGCAGCTGCACACACTCAGGCCCAAGTGGCTCCTCCAATCATCTCTGTGCCCACGACTGTGCAGGGAATGGCCAGGACCCCAGGGAAATCCCTCGGACATCTGGCGCTGCCCGTCCACCCCAGACCTGTTCCTTTGTTCCCCAGCTCCCTCCCAGCCGGCCCCTGAGGCCCTCCCTAGGAGGAGGAGGTCCCTGAGGTTCTCTCTGTGAGGGCCGACCTGAAGGCCTGAGACGCCTCCTCCCACCTTTGCAGGTGACCCCTCAGAGGACCCTGGGCCCCCAGAGCCGAGGGTCATGGAGACTCCTGGGGCCCATTCATGGCCCTGGGACTGTCCCTACCCTGGTGGGACTAAGCCACAACCTGGAGCAGCTCAAGGCTGGCACAACAGACACCCATAAATTAATAAAAATAATTGTGAAAACACAAGCAAAACAAGCTCGTCGGCATCCAAGAGTTCTGCAGCAGCAGGGTTAGTCTGAGAGTTGCTCTCTCTGTCCCACCTGGGGCTCCAGGGCGCTGCAGTCCGTCACCAGAGGGACCAGATGCTCGTGGCCCTCCAAGGGCTTAGTGTGGAGCTACTCACCCCCATCAGCACAGAGAAGACCCACGTCTTGTGGCTGAAGCAGGGGGGCAGTCTCTTCGACAGCTGCAGGTCGCTCGGCTTCGCGTCTGGGGCATAGCTGGCGGGGTCTTGCCGGCCCCGCTCCAGCGTGGGCATCCGGTCATAGGCCAGCTCCTCTCTGAATGGCTCCTGGGTCATGGCACTTGGGGACACCACAGCTGTGCTGAATGTACAGCCACGTGTCACCAGTTCTTTATCTGGAATAAAATTATCATCGGCTTTGGCCACTCTGAGGAAACTTCAATAAGTTGTTTCCAAGAAATATTTTTTAACAAAAGAAATATTGTTCATACTGAAGTGCTCTAAATTTGAAGAAGAAAATGAGCACTTGAATCTAAAAGTGAAAAAGAAATAACTTTCCTAGAAAAACGGACCTGAATAGTCTGGGTTCAGGGTGAGATTCTACACTTTAAATGCCTCATTGATCC
ACTTTGGGAGGCTGAGGCGGGTGGATCAGAGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCAGAGACGGCGCCATTGCACTCCAGCCTGTGTGACAGAGCAAGACTCCGTCAAAGAAAGAAAGAAAGAAAAAAAGAAAGAAAGAAAGAGGAAGGAAGGAGCAAAGGAAGTAGCAAGACTCTGCATGTGAGGGAGGCAGAAAGGAGTCCCACAGCCTTCTTGTCCTCAGCCTTCTTGTCCCCACAGGGCCACACCAAGGCTAGGAGTCCAGGGCCAGGGAGGGAGGTTGGGACGTCAGGGACAGGGAGGTGGATGGAGTCGGGCCAGCCCAGGCCTGTGGCCCTTGCCGTGCAGGGCCTTGCTCCTGCAGCCATGGGACCCCGGGCCCTGAGTCGGGGGTGCAGGCCCTGAGGGGCTGAGCACAGCAGTGCTGGGTGAGGAGGCAGAAGAAGCCCCGTCGGGGCCTGAGCGAGGGGCAGAGCTAGGGCCAGGACAGCCAGGCTCAGCTCAGCACCCACTCAGGTGCCACGAGGGCCCAGGGTAGAGAAGAAAGGCCGGGGGCAGGGCCGAGTGGGGCCAAGGCTGGGCGGGGGTGGGCACTTGCCCATATCCGGCAGCCGCTGAGGCTGAAGGGGCACAGCTCACAGCTCCACTGGGACAAGGGCGGCTCCCATGGTGAGGATAAAGGCCACGGAGAAGCTTCCAGAGAGGGCAGCAGAGTGGGACGGGTCACCTGCCCCAAAGGGCTTTGTTCTAAGGGAGCAGAGACCCAGGACAGCACGGGGCGGGGCATCCACTTTGTTTTTAAGACATTTCGGGGGCGCTGCTGGGGACAGTCACCAACAGTGTCCCTAGAGAAAGGGCAGGGGCCAGAGACCCAGCAGGCATGTGGAAGCGAGAGGAGGGGAGAGCTCGGGACCAGCTGAAGCAGGAGGGGCGTGGGGTCCGCGGCTTGCGGGCCAGAGGGGCATGGGGTCCGCGGCTTGCGGGCCAGAGGGGCATGGGGTGCGCGGCTTGCGGGCCAGAGGGGCATGGGGTCCATGGCTTGCGGGCCAGAGCCCAGGGGTCAGCCAGCATGGTGCTCTAGCTGCCGGGACGCTGGGGAGGCAGTGGCCGGGGTTCACAGAGGACCAGGGGACAGCGGTTGTCTGTCCTCCCTTGCTCTGAGGATCAGTGGGTGCCTCCACCGGCCTTGGCACTGTGTAAGTTTCTAAAAACACAACATGAAGCTTTGGGAGGATGTGGGGCACAGGTCCCAGTCCCCTGAGGGCAGATGCTGCCAGCTCTGGCAGGACGCAGCCGCAGGCTCAGAATCAACACGCAATTCCCTGCACAGGCGTCTGCAGAGCAAGGTTCAGGCCTGCTTCATCAGTAATTCTCAAAGGTGATGAACTCTACGTGAAACTAAAGTCATATGAAGAGTTTTTTGTTTTTTTCTTGTTGTTGTTGTTTTGAGACGAAGTTTCACTCTCATTGCCCAGGCTGGAGTGCAGTGGCACAATCTGGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGCACCCACCACCGCGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTGTCCATGTTGGTCAGACTGGTCTCAAACACCTGACCTCAGGTGATCCACCCACCTCCACCCCTCAAAGTGCTGGCATGACAGCCATGAGCCACTGTGCCCGGCCCATATGAAGAGGTTTGAATGAGGTACAGGTGACAGAAACCTGCACATCTCAGAACAAAGAAACCAGAGCACGTGCCGGCGAGCTTGGGCACTGGCAGAGGCGTGGAGGAAGCTGCTTACAGAGCCTGCAGCACAGCGCAAGTAATCCATCTCAGCCGGGAACACGTTCCCCAGGTACAGCAAAAACCCCGAGGTCACCAGGAGGCAGCTCTGCAAGACAGCGACAGAATCCCAGGTTACAACGCGCCCCGTCCCCAGGCTGGACCCTGACCCTTCAACTTCTGCTTCACTGTCTGTGTATTGGTGACTCACCCACGTCCCCCAGCATCAACCACACCCGCACCTGGGACCCGCCCATCCTGGACTCCTCCTGTAGGACAGACGCAGCCCCGCCGCAGCCCAGGACATGGACCAGCCTCCCCCAGCCATGTCGGAGCATGGACCCCCCACGCTGTTATCTGGAGGAGAGAAGAAAGGGGATCTGCCAATATTTAGAGCAAGGAATGGCACCTCTCCCCACAAAATACTCCTGCCCCAACATGTTGTGCGTGCAGTCTTCCAGATCCCACACCCAGGTCCAGACACGAGACTGGAAAACAACTGCCCATCCCCCTCCGTCTGCAGAACCTAATTTCCAGATCTGGAAGAAGATCCCTCCAGGCAGGGGCTCCAGGCCCAGGGGCTCCTGAGCAGGGAAGACCCTAGCAGGAGGCAGGGAGGGTGCTCTCTCTCACGCACAGCACTGCAGGGGTGCGGTGGGGAGGGGGCTCTCTCTCACGCACAGCACCCCCGGGGTGAGTCTGAGGGGAGTCAGTATCAAAGGTCACTGGGACCCAGGGTCCTGGCAGAGGAAGCGAGGTCTGGGGCAGAGGGGATCTGGCCTGGGCGGGGGAGGGGCTGCGACCAAGTCCAGGGCACCAGGTGGAGGAGGGCAGAGCCCGGAGATGGCCACCACCACCCGGGAGCCGCCTCTGTCCCCAGCTCCGAGGCAGACGCCTGTCTTGGTGGGGCATGCTCAGGCCACGGGAGGTGGGCAGGACCACTGTGGGTGCTGCAGGGGCTGCCGGCGGAGGCCAGGGCACAGGGAGGGGAGAAATCACAGCCTGGATCTCATTCTCAGCCCAAGCTACACGGAACCGGGGGTCCCTGCATAGAGGCCTGTCCTGCAGCATGGCTCTGAGCAGCTGCACACACTCAGGCCCAAGTGGCTCCTCCAATCATCTCTGTGCCCACGACTGTGCAGGGAATGGCCAGGACCCCAGGGAAATCCCTCGGACATCTGGCGCTGCCCGTCCACCCCAGACCTGTTCCTTTGTTCCCCAGCTCCCTCCCAGCCGGCCCCTGAGGCCCTCCCTAGGAGGAGGAGGTCCCTGAGGTTCTCTCTGTGAGGGCCGACCTGAAGGCCTGAGACGCCTCCTCCCACCTTTGCAGGTGACCCCTCAGAGGACCCTGGGCCCCCAGAGCCGAGGGTCATGGAGACTCCTGGGGCCCATTCATGGCCCTGGGACTGTCCCTACCCTGGTGGGACTAAGCCACAACCTGGAGCAGCTCAAGGCTGGCACAACAGACACCCATAAATTAATAAAAATAATTGTGAAAACACAAGCAAAACAAGCTCGTCGGCATCCAAGAGTTCTGCAGCAGCAGGGTTAGTCTGAGAGTTGCTCTCTCTGTCCCACCTGGGGCTCCAGGGCGCTGCAGTCCGTCACCAGAGGGACCAGATGCTCGTGGCCCTCCAAGGGCTTAGTGTGGAGCTACTCACCCCCATCAGCACAGAGAAGACCCACGTCTTGTGGCTGAAGCAGGGGGGCAGTCTCTTCGACAGCTGCAGGTCGCTCGGCTTCGCGTCTGGGGCATAGCTGGCGGGGTCTTGCCGGCCCCGCTCCAGCGTGGGCATCCGGTCATAGGCCAGCTCCTCTCTGAATGGCTCCTGGGTCATGGCACTTGGGGACACCACAGCTGTGCTGAATGTACAGCCACGTGTCACCAGTTCTTTATCTGGAATAAAATTATCATCGGCTTTGGCCACTCTGAGGAAACTTCAATAAGTTGTTTCCAAGAAATATTTTTTAACAAAAGAAATATTGTTCATACTGAAGTGCTCTAAATTTGAAGAAGAAAATGAGCACTTGAATCTAAAAGTGAAAAAGAAATAACTTTCCTAGAAAAACGGACCTGAATAGTCTGGGTTCAGGGTGAGATTCTACACTTTAAATGCCTCATTGATCC
Task1_train_28908
The gene TUBGCP6 (tubulin gamma complex component 6) is located on Chromosome 22, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Microcephaly and chorioretinopathy 1
GCGCCTCCAGGTGCAGCTCCACGAAGAAGTAGTCGACAGCGGCCTTGTTCACCAAGGAGATGCTGGCAGGAGGGAGCTGGAGTCAGGGCGGGCCAGGACGGGCTGGGTGGGCAGACTGGCGCAGGGGCAGGGGCACTCACTGGGCGGCCAGCGGTGCCGTGATGGAGCGCTTCATGAGCACGGGCAGCGTCAGCAACTCGCTCAGCTGCACAGCAGTCTCATCAGCGGCAGACTGGACCTGGGGGTCCACGGGGAAGGCGAAGGCCCGGGGAAGCACGGGGCGCAAAAGATGAGCAATGGGCGGCTCGGCTGCGGGAGATGGAGCACGCACGTGCTGGGAACCGGCCAGCCCAGGGCTCCGCCCCCATCCACAGGAGATGGAGCACGTGCTGGGAACTGGCTAGCCCAGGGCTCCGCCCCAACCCACAGGAGGTGGAGCACGTGCTGGGAACCAGCCAGCCCAGGGCTCCCTGCCAACAGCAACTGCTGCACTCACACATGGACTCGTAACTGTCCGGGTACCGCTCCAAGTGGTACTGCCCTGCCAGGCCTGCCAGGTAGGCCTGCTCCCCACCCTGAGCCTCCGCCGCCGATGCCTCCGCCTCCTCACCACGGCCTGGGCTGCTCTGGGCAGCTGTGTCTTCCTAACAAAACACCAGCCTCAGAACCACCTCCCCACTGCACGCTGTCCCCACAACCAGCTTGTGCCAAAAAAAGGAAAATCGCATGTGGGACCCACCCGCGTGACAACCTAGAGGGACAGAGCCCTCCCTGCCTGCTGTGGGACCCCCAGGCTGCATCCACCTAACCTGTGAGTTGAGAGGCCAATTTGGAGAGAGGTCCTCAGTGTCCCCGCTCCTCCCAGGGCCTGTGTGGACACAAGTGGACACGAGGGCATCAGGGCCGAGTGCCTGTGGCGGGTACAGAGCCGAGCCGGCCCTGGCTCAAGCAGCCCCTCCCATGTCCCCCACAGCAGCCCAGGTCCTGGCTGACAAGGAGGCCTGAGGGGAACTTCACATGCCACCAACCCCACTGCCCGCCTACCTCCCAGGCTCTGTGCGTCCCACAGTCCCACTCCTGACCACCAGCCACCCTACTCTGACCTAGTTCTTCAGAGACACTGTCTCCCGGGGTGTTGGGCCACCATGGTTGGGTGGGAGCCACGTCTGACACGTTCTCCCCCACGCTGATGCTCCCCTCCCCGCAGCCCGAGCTGGGGGAGGACAGAGATGGCCCCACTTCTACAGGCAGCCGTGGCCCACAGTCCAGCACAGTGCTCTGTGCTCCCAGGCTGAGCGCTGACTGGGACGTGTGGCCAGGGGGGCTCTGTTGGGGCCTGGGTGTGTTGGGCTCAGCTTCTGGTGAGAGAGCCCCCAGCACCATGTGGGGCGGAGGGATGGGTACATGGGTGTTCCACCGTGGCCGGGTGGAAACCACATCCGACACAGGCTCCCCCAAGCTGATGCTGGCGTCGGACACGTGTCCATGGGTGTTGCACCGTGACCGGATGGGAGCCACGTCCGATACGTTCTCCCCAACCCTGATGCTGGTGTCAGACACATGTCCGTGGGTGTTCCACCGTGGCCGGGTGGGAGCCATGTCTGACACAGACTCCCCCAAGCTGATGCTGGCATCAGACACGTGTCCATGGGTGTTCCACCGTGGCCGGGCGGGAGCCATGTCTGACACAGACTCCCCCAAGCTGATGCTGGCATCGGACACGTGTCCATGGGTGTTCCACCGTGGCCGGGTGGGAGCCACGTCCGACACGTTCTCCCCAACCCTGATGCTGGCGTTGGACACGTGCCCGTGGGTATTCCACCGTGGCCTGGTGGGAGCCACATCTGACACATTCTCCCCGACCCTGATGCTGGCGTTGGACACATGTCCATGGATGTTCCACCGTGGCCGAGTGGGAGCCACATCTGACACAGACTCCCCTAAGCTGATGCTGGCATTGGATACGTGTCCGTGGGTGTTCCACCGTGGCTGGGTGGGAGCCACATCTGACACATTCTCCCCGACCCTGATGCTGGCGTCAGACACGTGCCCGTGGGTGTTCCACCGTGGCCGGGTGGGAGCTATTTCAGAAGCGTAGTCCCCTGTGGGAAGACCACCCCCTGACACCTGCCCAAAGAGCCGCTCTGTGGGCTGGCTGCTCCCCTCCTCCAGAGCAGCACGCCTGGGTGGGTGTGAGGGGAGCAGAGTCTCCCGCGAGGCGGAGCCACAGGCATCCATCTTCCCACAACTGTCCTCCCACAGCTGTAGCCCTGAGCTGCCCAAGCTGCACTCTGCAGCCTGCAGGGGCCCTGGTGCAGGTGAGGTGGCCACAGCTGGCCTCAGGACAGTACTAAAGTCGTACTCCTGTGGCCTGGAGGGCTGAGTGCTGGCTGCTGCGGGTGCCTCCCCAGGAGCTGAGGGGGGCAGGTCCAAGTTAATGGTCTGCAGCGCCACCTCCAGGAGAGGGACCATGCCAGTCTGCACGGACGGCTCAGCCCCTGGGCCCACAGGTAGGAAGTCTCCAATGCTGAGGCTGTCAGAGAAGGGTCTGGCCCCCTCCGCCTGCTGCAGCCCCCTGCCACCAGCCCCCACTGCTAGAGGCTTAAGGGGCTGTGGGGTCAGCAGGCCTGGCCTGTTCCAGCCATCCCAGGCAGGCGAGTGTTGCTCTGCAGACCCAGAATCACAGCCTTGGCCTCCCTCTGGGTGCTCAGGGCCCGGAGACGTGACCTGAAACACAGGTGACATCAGACCCAGTCTGGTCTCAGGACCCCCCAGCCCTCGAACTGTCCCCCAAGTTCAGCTCTGCAGCCATGACCAACACCAGGTGCCGAGGGCTATGGGAAAACCATAGGGCACCCTGGGTTCCACTCTGCCGCTTACCTGGGGGTGCACGCTCAAGAGGACGTCTGGCGGCTCCTGGGGCTGGTGAGCCTCAGACACTGCTTTCAGCATCTCCTGAAATTCAAGCCAGAGGGGTGACTGGCCAAGCCGGAGTCAAGCACAGCCCTACCCCACACAAAGCCACAGCCCCTACCGCCCATGGCAGCCATGTGCACTGAACCAGACAAGGCTTGTGCTGGGCTCCAGTGGGACGCTGGGCCTGCAAAAAGTACTCCAAAACCACGAGCTCCTCACCACCTGTATCTGTGCAATTTGGTGGCACACGGGGAGAGAGAGTGCTCTGCCGCAAACGCGAAAGCCACCAGCCCTCTCCTAGAAGAGCATGTAGGTTTGTGTGCAGTCTCAGGGGGTTTCCAGACCCCCAAAGCCCAGGGGAAGAGCTGCCATCTGAAGCCGCAGACATACCTGAATGTGTTTCTCATCTTCTAAGAGAAAACGAAGCCGTGCACTCTCCAGTCGGTGCCTCTGGATTCTCCACAGTGCCTTCTGCTCCCGACGAGCTGCCTCTGCAGAGAGCTTGCTGTAGTGGTCGACCAGTGCCTGCCTGAAGCCACACACCAGAGAGGACACGGCCACAAGAGTCACCCCACCCCATCTACCTGGCACCCCTCAGGCCAGGATGGTTCTCCATAACAGAGGCCCCAGTGGGCCCCCGCCCCCGTCTCCCCCTACCAGGGGCTGATAGCTCTGGGCCCTCACAGCACCTACAGGGCAGCACCAGGCAGGCCCTTCTACCTGCCAGGCTGGGAGACCCTGGTGAGTCAGCGTCCAGCCAGGGCTCAGCAACATCTGCTGGACAAATACCAGAATGAGATCCTGTGTGGCCTGAAGCAAGGGGTGAGCAGGAGGCCGAGGGCCCCAGGCCTCTAAGAAGTTAGGCCTCTTCCCCTTCTACAGGTACAAACCTGAGAACTGAAAACTAATGCAAAAAAGCACATGAAGCAAAACCAACACAAACGCTTTATTTGCTGAATTCAAAGCCTGCTTCACCGATCGTGCCCCATGATTTTGAGCTTCTCACCAGCAGGCAACTGGGCTCAAACCTGGACTGGCCAGCTCTAATTTGGCTGCCACAGGCCAGAGACGTAGTGTCTAGGCCTGGTTTTCTCCATGTGTTAACAGGACAGTATCGACTGACATACATGCATGAACACGTACTCATGCATAAATGCATACACGGACACACGTGCACACA
GCGCCTCCAGGTGCAGCTCCACGAAGAAGTAGTCGACAGCGGCCTTGTTCACCAAGGAGATGCTGGCAGGAGGGAGCTGGAGTCAGGGCGGGCCAGGACGGGCTGGGTGGGCAGACTGGCGCAGGGGCAGGGGCACTCACTGGGCGGCCAGCGGTGCCGTGATGGAGCGCTTCATGAGCACGGGCAGCGTCAGCAACTCGCTCAGCTGCACAGCAGTCTCATCAGCGGCAGACTGGACCTGGGGGTCCACGGGGAAGGCGAAGGCCCGGGGAAGCACGGGGCGCAAAAGATGAGCAATGGGCGGCTCGGCTGCGGGAGATGGAGCACGCACGTGCTGGGAACCGGCCAGCCCAGGGCTCCGCCCCCATCCACAGGAGATGGAGCACGTGCTGGGAACTGGCTAGCCCAGGGCTCCGCCCCAACCCACAGGAGGTGGAGCACGTGCTGGGAACCAGCCAGCCCAGGGCTCCCTGCCAACAGCAACTGCTGCACTCACACATGGACTCGTAACTGTCCGGGTACCGCTCCAAGTGGTACTGCCCTGCCAGGCCTGCCAGGTAGGCCTGCTCCCCACCCTGAGCCTCCGCCGCCGATGCCTCCGCCTCCTCACCACGGCCTGGGCTGCTCTGGGCAGCTGTGTCTTCCTAACAAAACACCAGCCTCAGAACCACCTCCCCACTGCACGCTGTCCCCACAACCAGCTTGTGCCAAAAAAAGGAAAATCGCATGTGGGACCCACCCGCGTGACAACCTAGAGGGACAGAGCCCTCCCTGCCTGCTGTGGGACCCCCAGGCTGCATCCACCTAACCTGTGAGTTGAGAGGCCAATTTGGAGAGAGGTCCTCAGTGTCCCCGCTCCTCCCAGGGCCTGTGTGGACACAAGTGGACACGAGGGCATCAGGGCCGAGTGCCTGTGGCGGGTACAGAGCCGAGCCGGCCCTGGCTCAAGCAGCCCCTCCCATGTCCCCCACAGCAGCCCAGGTCCTGGCTGACAAGGAGGCCTGAGGGGAACTTCACATGCCACCAACCCCACTGCCCGCCTACCTCCCAGGCTCTGTGCGTCCCACAGTCCCACTCCTGACCACCAGCCACCCTACTCTGACCTAGTTCTTCAGAGACACTGTCTCCCGGGGTGTTGGGCCACCATGGTTGGGTGGGAGCCACGTCTGACACGTTCTCCCCCACGCTGATGCTCCCCTCCCCGCAGCCCGAGCTGGGGGAGGACAGAGATGGCCCCACTTCTACAGGCAGCCGTGGCCCACAGTCCAGCACAGTGCTCTGTGCTCCCAGGCTGAGCGCTGACTGGGACGTGTGGCCAGGGGGGCTCTGTTGGGGCCTGGGTGTGTTGGGCTCAGCTTCTGGTGAGAGAGCCCCCAGCACCATGTGGGGCGGAGGGATGGGTACATGGGTGTTCCACCGTGGCCGGGTGGAAACCACATCCGACACAGGCTCCCCCAAGCTGATGCTGGCGTCGGACACGTGTCCATGGGTGTTGCACCGTGACCGGATGGGAGCCACGTCCGATACGTTCTCCCCAACCCTGATGCTGGTGTCAGACACATGTCCGTGGGTGTTCCACCGTGGCCGGGTGGGAGCCATGTCTGACACAGACTCCCCCAAGCTGATGCTGGCATCAGACACGTGTCCATGGGTGTTCCACCGTGGCCGGGCGGGAGCCATGTCTGACACAGACTCCCCCAAGCTGATGCTGGCATCGGACACGTGTCCATGGGTGTTCCACCGTGGCCGGGTGGGAGCCACGTCCGACACGTTCTCCCCAACCCTGATGCTGGCGTTGGACACGTGCCCGTGGGTATTCCACCGTGGCCTGGTGGGAGCCACATCTGACACATTCTCCCCGACCCTGATGCTGGCGTTGGACACATGTCCATGGATGTTCCACCGTGGCCGAGTGGGAGCCACATCTGACACAGACTCCCCTAAGCTGATGCTGGCATTGGATACGTGTCCGTGGGTGTTCCACCGTGGCTGGGTGGGAGCCACATCTGACACATTCTCCCCGACCCTGATGCTGGCGTCAGACACGTACCCGTGGGTGTTCCACCGTGGCCGGGTGGGAGCTATTTCAGAAGCGTAGTCCCCTGTGGGAAGACCACCCCCTGACACCTGCCCAAAGAGCCGCTCTGTGGGCTGGCTGCTCCCCTCCTCCAGAGCAGCACGCCTGGGTGGGTGTGAGGGGAGCAGAGTCTCCCGCGAGGCGGAGCCACAGGCATCCATCTTCCCACAACTGTCCTCCCACAGCTGTAGCCCTGAGCTGCCCAAGCTGCACTCTGCAGCCTGCAGGGGCCCTGGTGCAGGTGAGGTGGCCACAGCTGGCCTCAGGACAGTACTAAAGTCGTACTCCTGTGGCCTGGAGGGCTGAGTGCTGGCTGCTGCGGGTGCCTCCCCAGGAGCTGAGGGGGGCAGGTCCAAGTTAATGGTCTGCAGCGCCACCTCCAGGAGAGGGACCATGCCAGTCTGCACGGACGGCTCAGCCCCTGGGCCCACAGGTAGGAAGTCTCCAATGCTGAGGCTGTCAGAGAAGGGTCTGGCCCCCTCCGCCTGCTGCAGCCCCCTGCCACCAGCCCCCACTGCTAGAGGCTTAAGGGGCTGTGGGGTCAGCAGGCCTGGCCTGTTCCAGCCATCCCAGGCAGGCGAGTGTTGCTCTGCAGACCCAGAATCACAGCCTTGGCCTCCCTCTGGGTGCTCAGGGCCCGGAGACGTGACCTGAAACACAGGTGACATCAGACCCAGTCTGGTCTCAGGACCCCCCAGCCCTCGAACTGTCCCCCAAGTTCAGCTCTGCAGCCATGACCAACACCAGGTGCCGAGGGCTATGGGAAAACCATAGGGCACCCTGGGTTCCACTCTGCCGCTTACCTGGGGGTGCACGCTCAAGAGGACGTCTGGCGGCTCCTGGGGCTGGTGAGCCTCAGACACTGCTTTCAGCATCTCCTGAAATTCAAGCCAGAGGGGTGACTGGCCAAGCCGGAGTCAAGCACAGCCCTACCCCACACAAAGCCACAGCCCCTACCGCCCATGGCAGCCATGTGCACTGAACCAGACAAGGCTTGTGCTGGGCTCCAGTGGGACGCTGGGCCTGCAAAAAGTACTCCAAAACCACGAGCTCCTCACCACCTGTATCTGTGCAATTTGGTGGCACACGGGGAGAGAGAGTGCTCTGCCGCAAACGCGAAAGCCACCAGCCCTCTCCTAGAAGAGCATGTAGGTTTGTGTGCAGTCTCAGGGGGTTTCCAGACCCCCAAAGCCCAGGGGAAGAGCTGCCATCTGAAGCCGCAGACATACCTGAATGTGTTTCTCATCTTCTAAGAGAAAACGAAGCCGTGCACTCTCCAGTCGGTGCCTCTGGATTCTCCACAGTGCCTTCTGCTCCCGACGAGCTGCCTCTGCAGAGAGCTTGCTGTAGTGGTCGACCAGTGCCTGCCTGAAGCCACACACCAGAGAGGACACGGCCACAAGAGTCACCCCACCCCATCTACCTGGCACCCCTCAGGCCAGGATGGTTCTCCATAACAGAGGCCCCAGTGGGCCCCCGCCCCCGTCTCCCCCTACCAGGGGCTGATAGCTCTGGGCCCTCACAGCACCTACAGGGCAGCACCAGGCAGGCCCTTCTACCTGCCAGGCTGGGAGACCCTGGTGAGTCAGCGTCCAGCCAGGGCTCAGCAACATCTGCTGGACAAATACCAGAATGAGATCCTGTGTGGCCTGAAGCAAGGGGTGAGCAGGAGGCCGAGGGCCCCAGGCCTCTAAGAAGTTAGGCCTCTTCCCCTTCTACAGGTACAAACCTGAGAACTGAAAACTAATGCAAAAAAGCACATGAAGCAAAACCAACACAAACGCTTTATTTGCTGAATTCAAAGCCTGCTTCACCGATCGTGCCCCATGATTTTGAGCTTCTCACCAGCAGGCAACTGGGCTCAAACCTGGACTGGCCAGCTCTAATTTGGCTGCCACAGGCCAGAGACGTAGTGTCTAGGCCTGGTTTTCTCCATGTGTTAACAGGACAGTATCGACTGACATACATGCATGAACACGTACTCATGCATAAATGCATACACGGACACACGTGCACACA
Task1_train_28909
A change on Chromosome 22 affects gene PLXNB2 (plexin B2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; See cases
GGAGCGGGGAGGGCTGTGGGTGCGTCCCTGGTGGTCTCCTTACCCGGGAAATCTCTGCCAGGTGTGTGTTCATGTCCTGGTCGCTGACCTGCACCATCTGCCGGATCCCCTTGTAGTAACTGCAGGGGTGGGAGCATCATACAGTGTGGGCGGCAGGGACCACAAAGGGGGTGGTGGGGGAAACCAAGGCCTGAACCTCCCCGCAGGGGGTCGAGGGTGGGCATGGGGGCCTGGCCTGGAGGGCAGGCAGACTTACTCCTCCACCATCTTCTTGTAGGTGGAGATCTCCTTGGCGTACAGCAGCTTGTTGCTGGGAGAATCCTGTTGGGGACAAAACCCAGTGATGCCTGGCCAAGGGGGCCAGGCTGGGGCTGCTCAGAGTACCCCTGGGTAGCTTCCCCTGCCCCGAACTCCTGACACTTTCATCAAGAAAACTATGGGCCGGGCGCAGTGGCTCAGGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGGTCAGGGGTTCGAGACCAGCCTGCCCAACATGGTGAAACCCCGTCTCTACTAAAAATACTAGCCGTGCGTTGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCAGCGGCGGGAAAATCGCTTGAACCTAGAAGGCGGAGGTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGAGAGACTCCATCTCAAAAAAAAAAAAAGAAAACTACTTATTTTGTGATCTGTAGTAAAACTCAGTTTCTCTGCTCGTGTGCTGTGGTGAGAGGTCTCAGGAGGAGAGAGGGCAAGGGCTCTCGGGATCTCCCAGGCTCTGCCGGGCCCCTGTGCCCCCAGCCTCCGCCACCCGTCACCTCCTACATCAAGGGCTCCAGCCCAAGATATTCAAATCCACACCCCAGACAAGGTCCCAACTCACAAGATGCCTCCTGGGGACAGACCCAGGCCTCCCTGCCCCAGACCTGCCCCCACCCCACTCACGCGGCTCAGCTTATGCTCCGTGCGCGTGCAGGCATCCATGAAGGTCTGCGCGATGACTGACAGCGAGGCGTCCACCACCTCGTGGACATGCACGTCAAAGATGAAGTGGGGGTTCTTGAGGATGTTCACCCAGAACCGGAGCGGTAAGCTGAGGCAGAGCAGCAGGGAATGAGAGCCGGGGCTGGGCCGCGGGGTGGGTGTGGAGCCTCCCAAGTGAGAGGCGGAGCCGGGGCTGGGCCGCGGGGTGGGTGTGGAGCCTCACCTGTTCGTCTTCCAGATGTGGATGGTGTCTTCATCCTGGATGTTGTGCTTCTCTGCCTGCTCGTCCAGGAAGTCGAAGAAGTACTTGACTGCAGGTGGCACCGCGTGCCCAGGCGCCAGCACGCTCTGGAAGAAGTTGTCCACAAACTGCTGCAGTGTGCCCTGTGGGGGGGAGGGTCTCAGCGTGACGCCGTGGGCGCGGCTCCTGGGGGGGAGGGTCTCAGCGTGGCGGCCTGGTGCCGCCCACACACCCATGGGGGCCCACCTTGACTGAGAGCAGCCGCGTCAGGTAGATCTCGGTGATGGCCTTCGTCCGCTCCTTCTCTTTCACGCTGCCTCTCTTGGACTTGCCCTCGTCCACCTCGTCGGTCGGCCGCACCAGGTGCCACACCCGGTTCTCCTCCTCCAGGAGGGCATGGCCTGTGGGGAGCGGGCACTGAGGGACCCCTACCCAGGTCTGGGGGCCTGGGTCCCACAGGGAGCAGTGGTGGCAGGGTGGGCAGGGGTGCATGTGTCCAGGGCAGACATGGTCCACGCTGACCACCAGGGGCTGGAAGGAAACGGGCAACAGGGAGGGACTCACGCTCCCCAGGCAGGTCCTGCTGGCTGTCCTCCGGCTGCTGGGAGACCCCCACCTTGGACAGGATGAGGGTGGCTCCATCCCGGACCTGGGGAACACGGCGGTGAGGGTGGGCTGTGCCCCCAGGGTGCCCAGTTCTCGCCCGCCCCGGCCTACACGCTCACATTGTAGTGCATAAGGGTGTTGACGCGCTTCCACCGGCCCTCCCGCTGTGACGTCAGGTCCAGGTCCGACAGGATCTGCGCTGTGGAGCCCGGACGCCACTCTGTGGGAAGAGACAGCCCAGCTTGGGCCCCAGCCACCCAGGTTCCTCCCACTGCCCACCACTCCCATATGAGAAAGCTGGCCAGGCAGGATACCGCCCCAGGACACAGGCCAGGCACATGGGCGCCTGTGTGCAGACGGGCAGGGGCCGGCACTCACCCAGGACCACGCTGTCTGGCCTGGGCCAGCAGGAGCAGGGCTGCCCACGGTACACCTGGTCAATGATCTTCTCCTTGACCTGGGAGATGGTGTCACAGTTGAGGACCTTCACCGGGATGGCGTCCACTCCCTCGTCCTGCACGATCACGCTCACCGTCTGCCGAGACATCCGGGATGAAGCCCAGTGGGAGGCCCTGCTCTTACCTGCACCATGCAGGAGCCACTCCCTGCCCCGCCAGCTTTGCCCACCACAGCGGCACCCTTGGGCAGCAGGCCCCCGCCAGCCCGGCTCCGAGCCCCCGAGGCTTCCCAGATGACCACACTCTGCCCTTCCCCTGCCTGCTCCGGCTCAGCAGGACAGAAAGACGGGGACGGCTCAGAACCGCTCACTCAGGCTGTCACGCAAGCTCATGGAAGCACATGTACAGACACAGAATACACACGTCTCACACATGCACAGGCTCCTGCCACACCCACTGGTCATGTATGCACAGAACCCTGGACACACCTGGTGTGCCAGGCCCTTGTATGGCCTCCAGGAGGTGGGGGCGCCCGGGAAGAGCTGATGCGGGGCCCGCACACTTAGAGCCTCCAGAGCCCACAGCCACCAGCACCCAGGCCCCTCCCTGAGGCCGAGTTAGAGCAGGCTGTAACTCGAATCCACAGAGGAGGTGGACGGCCTCTGGCCTGTGGGTCCCATCTGTGGCCAGGGGATGCCCAAGCTCCTTAGCCCAGATCCGAGGCGCCCATGGCGGCCCCCACCCCAGAAGCTCACCAGGGGTGCGTACTCCACATCATCCCCCAGCAGCCCCGTGTCGTTGAGAGTGTACTTGGCCTTCTTCTGTACCGCATCCACCGGGCCCTTTTCCACCTGATGTTTGATGGCCTTGAAGAGCTTGTACAGGGGCTCCCCGGCACTGTCCTGGAGTAACACGGAGGGGAGGCTGGGAGGTCAGGGGACTTGGGGCCTGGAAGGGGCCCCCGGAGCCCTGGCCAGAGGCATGGACGGGGCTGACCATGTCAGGGGCAGGAAGCAAACCTGTCCAGGCAGGGCCCACCTCAAGGTGCCGTACAGATAGGGGAACGCAGGAGGGGATGGCAGCAGTCTGCCTCATCCCTCAAGCCCCAGCCAGGCTGGGGTGGAACCCACCTTGAGGTACTGGTACAGGCAGATGGACATCCAGTTGGACAGCATCCTCTCCACCACAGTCTCAGACCTGGGGGTGCAGGGAGGCCTTGTACCGAGTGACCCCGTAGTATTCCTGAGGCCCAACTGACTCCTCCAAGCACCCGGCCACCCTTGCGCCAGCCTCGCCCCTGTCCAGCCTGGGTGTGGCCTGCAGCGAGGACTACCTGGTGGCAGCTCCAGCCCTTGTGGGAAGTGTGCCACCTTCCTTCTGTTCTGCAGAGGGCTGACACTGTGACCAGCTGAAACCGCTGGACAGGAAGGGCTAGAGTCCGGCTTTGAGTTTGTGGCCGGGGACACCACCCCTAGACCGCCCCCCACCACCAGCGCTGGCTGGCACCTGCCGGCTCCTGGGGGCCCAACAGGCCGCTGTGCCACCCGCCACCAGCCCCAGAGCCCCTGCGGCCGCCCCGCCCGTGGCCCCGCTCGTGGCCCCGCCCATGTGCACCTGCGCAGCATCAGCTTGGGGTTCTTGGCCACCACGTACTGCTCCAGGAGCTCCAGGAAGAGCGTGTGCATGATGTCCGTGTAGTACTCCAGTTTCCCGTGCAGCGCCACCGTCAGCAGGGACGCGAAGTAGACCTTGGCGCGGGCCGAGAACTCCCGCTGGTTCTCCAGGGTGTGGATGAACTGTAGGGGCC
GGAGCGGGGAGGGCTGTGGGTGCGTCCCTGGTGGTCTCCTTACCCGGGAAATCTCTGCCAGGTGTGTGTTCATGTCCTGGTCGCTGACCTGCACCATCTGCCGGATCCCCTTGTAGTAACTGCAGGGGTGGGAGCATCATACAGTGTGGGCGGCAGGGACCACAAAGGGGGTGGTGGGGGAAACCAAGGCCTGAACCTCCCCGCAGGGGGTCGAGGGTGGGCATGGGGGCCTGGCCTGGAGGGCAGGCAGACTTACTCCTCCACCATCTTCTTGTAGGTGGAGATCTCCTTGGCGTACAGCAGCTTGTTGCTGGGAGAATCCTGTTGGGGACAAAACCCAGTGATGCCTGGCCAAGGGGGCCAGGCTGGGGCTGCTCAGAGTACCCCTGGGTAGCTTCCCCTGCCCCGAACTCCTGACACTTTCATCAAGAAAACTATGGGCCGGGCGCAGTGGCTCAGGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGGTCAGGGGTTCGAGACCAGCCTGCCCAACATGGTGAAACCCCGTCTCTACTAAAAATACTAGCCGTGCGTTGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCAGCGGCGGGAAAATCGCTTGAACCTAGAAGGCGGAGGTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGAGAGACTCCATCTCAAAAAAAAAAAAAGAAAACTACTTATTTTGTGATCTGTAGTAAAACTCAGTTTCTCTGCTCGTGTGCTGTGGTGAGAGGTCTCAGGAGGAGAGAGGGCAAGGGCTCTCGGGATCTCCCAGGCTCTGCCGGGCCCCTGTGCCCCCAGCCTCCGCCACCCGTCACCTCCTACATCAAGGGCTCCAGCCCAAGATATTCAAATCCACACCCCAGACAAGGTCCCAACTCACAAGATGCCTCCTGGGGACAGACCCAGGCCTCCCTGCCCCAGACCTGCCCCCACCCCACTCACGCGGCTCAGCTTATGCTCCGTGCGCGTGCAGGCATCCATGAAGGTCTGCGCGATGACTGACAGCGAGGCGTCCACCACCTCGTGGACATGCACGTCAAAGATGAAGTGGGGGTTCTTGAGGATGTTCACCCAGAACCGGAGCGGTAAGCTGAGGCAGAGCAGCAGGGAATGAGAGCCGGGGCTGGGCCGCGGGGTGGGTGTGGAGCCTCCCAAGTGAGAGGCGGAGCCGGGGCTGGGCCGCGGGGTGGGTGTGGAGCCTCACCTGTTCGTCTTCCAGATGTGGATGGTGTCTTCATCCTGGATGTTGTGCTTCTCTGCCTGCTCGTCCAGGAAGTCGAAGAAGTACTTGACTGCAGGTGGCACCGCGTGCCCAGGCGCCAGCACGCTCTGGAAGAAGTTGTCCACAAACTGCTGCAGTGTGCCCTGTGGGGGGGAGGGTCTCAGCGTGACGCCGTGGGCGCGGCTCCTGGGGGGGAGGGTCTCAGCGTGGCGGCCTGGTGCCGCCCACACACCCATGGGGGCCCACCTTGACTGAGAGCAGCCGCGTCAGGTAGATCTCGGTGATGGCCTTCGTCCGCTCCTTCTCTTTCACGCTGCCTCTCTTGGACTTGCCCTCGTCCACCTCGTCGGTCGGCCGCACCAGGTGCCACACCCGGTTCTCCTCCTCCAGGAGGGCATGGCCTGTGGGGAGCGGGCACTGAGGGACCCCTACCCAGGTCTGGGGGCCTGGGTCCCACAGGGAGCAGTGGTGGCAGGGTGGGCAGGGGTGCATGTGTCCAGGGCAGACATGGTCCACGCTGACCACCAGGGGCTGGAAGGAAACGGGCAACAGGGAGGGACTCACGCTCCCCAGGCAGGTCCTGCTGGCTGTCCTCCGGCTGCTGGGAGACCCCCACCTTGGACAGGATGAGGGTGGCTCCATCCCGGACCTGGGGAACACGGCGGTGAGGGTGGGCTGTGCCCCCAGGGTGCCCAGTTCTCGCCCGCCCCGGCCTACACGCTCACATTGTAGTGCATAAGGGTGTTGACGCGCTTCCACCGGCTCTCCCGCTGTGACGTCAGGTCCAGGTCCGACAGGATCTGCGCTGTGGAGCCCGGACGCCACTCTGTGGGAAGAGACAGCCCAGCTTGGGCCCCAGCCACCCAGGTTCCTCCCACTGCCCACCACTCCCATATGAGAAAGCTGGCCAGGCAGGATACCGCCCCAGGACACAGGCCAGGCACATGGGCGCCTGTGTGCAGACGGGCAGGGGCCGGCACTCACCCAGGACCACGCTGTCTGGCCTGGGCCAGCAGGAGCAGGGCTGCCCACGGTACACCTGGTCAATGATCTTCTCCTTGACCTGGGAGATGGTGTCACAGTTGAGGACCTTCACCGGGATGGCGTCCACTCCCTCGTCCTGCACGATCACGCTCACCGTCTGCCGAGACATCCGGGATGAAGCCCAGTGGGAGGCCCTGCTCTTACCTGCACCATGCAGGAGCCACTCCCTGCCCCGCCAGCTTTGCCCACCACAGCGGCACCCTTGGGCAGCAGGCCCCCGCCAGCCCGGCTCCGAGCCCCCGAGGCTTCCCAGATGACCACACTCTGCCCTTCCCCTGCCTGCTCCGGCTCAGCAGGACAGAAAGACGGGGACGGCTCAGAACCGCTCACTCAGGCTGTCACGCAAGCTCATGGAAGCACATGTACAGACACAGAATACACACGTCTCACACATGCACAGGCTCCTGCCACACCCACTGGTCATGTATGCACAGAACCCTGGACACACCTGGTGTGCCAGGCCCTTGTATGGCCTCCAGGAGGTGGGGGCGCCCGGGAAGAGCTGATGCGGGGCCCGCACACTTAGAGCCTCCAGAGCCCACAGCCACCAGCACCCAGGCCCCTCCCTGAGGCCGAGTTAGAGCAGGCTGTAACTCGAATCCACAGAGGAGGTGGACGGCCTCTGGCCTGTGGGTCCCATCTGTGGCCAGGGGATGCCCAAGCTCCTTAGCCCAGATCCGAGGCGCCCATGGCGGCCCCCACCCCAGAAGCTCACCAGGGGTGCGTACTCCACATCATCCCCCAGCAGCCCCGTGTCGTTGAGAGTGTACTTGGCCTTCTTCTGTACCGCATCCACCGGGCCCTTTTCCACCTGATGTTTGATGGCCTTGAAGAGCTTGTACAGGGGCTCCCCGGCACTGTCCTGGAGTAACACGGAGGGGAGGCTGGGAGGTCAGGGGACTTGGGGCCTGGAAGGGGCCCCCGGAGCCCTGGCCAGAGGCATGGACGGGGCTGACCATGTCAGGGGCAGGAAGCAAACCTGTCCAGGCAGGGCCCACCTCAAGGTGCCGTACAGATAGGGGAACGCAGGAGGGGATGGCAGCAGTCTGCCTCATCCCTCAAGCCCCAGCCAGGCTGGGGTGGAACCCACCTTGAGGTACTGGTACAGGCAGATGGACATCCAGTTGGACAGCATCCTCTCCACCACAGTCTCAGACCTGGGGGTGCAGGGAGGCCTTGTACCGAGTGACCCCGTAGTATTCCTGAGGCCCAACTGACTCCTCCAAGCACCCGGCCACCCTTGCGCCAGCCTCGCCCCTGTCCAGCCTGGGTGTGGCCTGCAGCGAGGACTACCTGGTGGCAGCTCCAGCCCTTGTGGGAAGTGTGCCACCTTCCTTCTGTTCTGCAGAGGGCTGACACTGTGACCAGCTGAAACCGCTGGACAGGAAGGGCTAGAGTCCGGCTTTGAGTTTGTGGCCGGGGACACCACCCCTAGACCGCCCCCCACCACCAGCGCTGGCTGGCACCTGCCGGCTCCTGGGGGCCCAACAGGCCGCTGTGCCACCCGCCACCAGCCCCAGAGCCCCTGCGGCCGCCCCGCCCGTGGCCCCGCTCGTGGCCCCGCCCATGTGCACCTGCGCAGCATCAGCTTGGGGTTCTTGGCCACCACGTACTGCTCCAGGAGCTCCAGGAAGAGCGTGTGCATGATGTCCGTGTAGTACTCCAGTTTCCCGTGCAGCGCCACCGTCAGCAGGGACGCGAAGTAGACCTTGGCGCGGGCCGAGAACTCCCGCTGGTTCTCCAGGGTGTGGATGAACTGTAGGGGCC
Task1_train_28910
Gene PLXNB2 (plexin B2) on Chromosome 22 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; See cases
GGACCAGCTCTCAGCCCAGACCCGAGCAGGACCCAGACACCCGGGGCTGCACCGTCCTCACCCGGGCGTGGATGAGCTTGTTGACCTGCTTCTTGACGCCACCTGTGAAGTTCTCAAAGGTGGGGTCAGGCACGTACTCGAAGGCCCCGGCCTCTGTTCTGAGCAGGGCACGGTGCCCGTCCATCTCGATCAGCACCGTGAGGTTGTAGGCCTCTGGCTCCTCAGGCACAGCCGGGGACAGGAAGACGACCTTGGTGTCATTGTGGAACACGTAGTCTGTACCCACCACCTGCAGGCAAGTCCCAGCTGTCAGCCCCCGGGCGCAGACCCCGCCCTTCCTGGGCACGATCCCATGGGCCGGTGCCAGAGCTGAGCCCACGCCAGGACTGACCGTCATGGGCTGCAGGGATTCAGCCTCCCGCGGCGGCTGCCAGGACTGCAGGGGCTCCGCGATGACCACCATGGCAAACCTCTGGATCAGGCTGAAGCCCTGACCCGTGACGTTGATGCTGCGGCCACCACTGCGGAGGGCAGTGCCTTCGTGGGCTCGGCTGGCAGGGGTGGTCCCTGCAGCCTCCGCCCTCCCGTCCCCGCCCACCCTGGCCCTGACCACACGGGGCTTCCAGGTGCATGTGTGGGTCTCGGTGGGCAAAGGGGCAACGCGGTGGGACGTGCTGAGCACGAGACTGTGCCGCAAGTGGGCGGGGGGCACACGGGGCCTGGTGAGCGTGGAGCCTCTGGTGTGCCCATCTGGGTTTCTAGGAGGAAGTGGATCTGGAGTGCAGTGGGGTTTTCCGGAGGCCGCCTCCCGCTGCACAGACCAGCCCCACCACATTCCTTTCAGCACAGTCAGCCAAGGGCACTGAGGAGGCAGCTGGGTGTGGGGAGCAGAGGGGGGCGGGGGGACACCAGCCTCACCTGGCAAAGCTTCGTAGCGGCTCGAAGGCTCGCAGTACGGGGTTTTCGCGGTAGGTGAAGAAGATGCCGGGGTTGGGCACGGGGGACCCCCCGTAGGAGACCTCCAGAAGCATCTGGCCCCGTGTCGCCTGGGGGCCAGTGACACACTGGAGCTGCGCCCCAAACTTCGTCCTGGGGGAGGGAGGGTGCTGGTCTGCATCAACCCCTCCCCCGGGACCAGCCCCAGCCCGACCAGGCTGGCCCCGCCATCCCCTCAGGGCCACTCAGGTCTCAGTAAGTGCCCCCCTCCATACCCAGGGCCAGGGCCAACCAGACTCAGCAGCTGGCGGTGACACCCACACTTTACACGGGACGCCGTTGAGGGTCACCCGCACGTCCTCCTGGGAGCCCGTGTCCAGGTGGGTGCCGTGGATGGTCAGTGTGGTGCCGCCCGCCTGCGGTCCCTGCTGCGGCTCCACACTGAGAGGCTTGGGCTGCTGAAAGAGCCGCAGGGGCACTCGGGTGAGGACGGGGCACAGGACGCCCTCGGTCCTGGGCTGGATGGTAACTGTCGTGGGGAGGCGGCGGGCAGAGCCCCTCCTCCCGGTCCTCCCGGGTTCGGCAGGTCCCCGAGGCCGGGTGCTTACTTGGAAGGTGAACTGGACATTGGGAGGCGAACGGCCCAGTTTCCCGAAGACGTCCACCTCGACACCCCCCGTGAAAGGCGTCTCCGCAGCCTCGATCACACACACGATCCTGGCGGGCGACAGGCAGTGTGGCCCAGGCACTCCCCGACCCACCCCACACCCTGACACCCTCACCCCCTCAGCCTCCCCACCCACCCAGTCACCCGGAACCCCAGCGTGGGTACTGACCCAGCTGACAGGGCCCAGACCAGGGCCGTCCACTCACCGGGTGGACACGGAGTAACGTTCCGGCTGAAAGGAGCAGTTCCGGCCGGCCACAGAGATCCTCTGGATGTCCCCTGCTTGGACGCCCAAATTGGACCCCAGGATGGTGATGCGGATGCCCCCACCCAGGGGGCCCGTCTCAGGCTGGATCTGAAACCACAGAGCCGGGTGAGCAGGGAGGGGCTCATGCCAGGGACGAGGGAAGGTGTAGGCCAGGCTTCGAGGGGCTCACCCTGGTGATGACGGGCGGCGGGCACTCGGAGGTGGTGTTGCACAGGGCCTCATACACGCACCTGCTCTGGCCCCCGCACCACGCACACCTGTAGTCGGGGTTAGCGGCCCGGCACAGGCTGCAGTCGCTGCGGCCAAAGGAGCAGTTGTAGAGGGTCACTGCGGGGAGAGCTGCCGTCAGTGGTCACCCCGTGCCTGCCCGCCCCCGACCTGCTCCCCACTGCGCCCACCTGTCCCCCCACCCACCGCCTTGTGCCCACCCGTCCCCTGCCCGCCCCCCACTGCGCCCGTGGCCCCCACCATGGAGCTTGCTGTCGATATTCTTGCCGTAAGACTTGACGTAGAGGTGCAGGGGCAGCGTCTCGTTGGCATCGTGGGACAGCTGGGGGACACGCAGGGGCACACTGCACTTCCTGCCCCCACAGAGGGGCGTGGGGCGGGGGTCACAAGGGCAGCCTCCCTGTGGCCACCGGGTCCCTTCCCAGCCAAGGGCAGCAGGGGAGGCCTTCAGGTGTCGGAAGTTCGGGAACCCCATGGACGCTGCTCTGTGCCACTCTGTCCCCAGGGAGGCAGAGGGCAGAGGGGGCTTCCCCAGCAGCACAGGGCATGGCGAGCCCCTGGCTGGGCTCTGGTCCCTGGGGTCTCCCTGCTGCCCCTCCCCTCACAGTCCTGAAGGTGACCCCCCACCCCACCCGGGGCCCTGGGGTCCAGCAGCCGAGCCGGCCTGCCCTGGAGCCGTACCTTTGGGGTCCGAAAGGCGAAGGTCCCAGATTCCTGCATGGTCACCGGCTCCATGAACTTGAGCAAGTCACTGCCCACGTGCAGGGAGGAACCCTGCAGACCATGCCGTCAGGACCCTGGACAGGCGGCTGTGGCACCCTGGCCCTCCTCCCAGAACCCCTGCAGCCCCTCCTCTGTGCCTACAGTGTGGGAGCCCTCTCCTCACCCCACACATGCCCGCCCCTCAGATTACCATGCCAGCTGACCCCTCGGCCACTCCTGAGCCCAAACACCTGTGTCTGCAGAAGCCTCTGAACGTCCTCTGTGGGTTTCCCACGGCCACCTCCACCACTCATCCACACCTGAGAACATCGCCCGGCCCACCTGACATCGTGGCCCCCACAGCTCCCTCCTCAGGAGGTGGCACTGGCCCCTCAATCTCCACACGCCTGCCTCCTCCACTGCCTCTCTTCAGGCCCATCCAAAGGCCCCCGAGTGCTGCCTCCTGGCCTCTGTCCCCGATAAATCCTGTGCCCTCTACCTCATGTGGGGGCCCCGAGTCGGGGGGCACGGGTGGAGCTCAGGCTTCCCACACACCCATCAGCACTGGCCGGCACCCCTCCCTCCGTACCTTAGCCTGCCTGTCACCAACCGGCACCCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCAACCGGCACCCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCGGCCGGCACCCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCAACCGGCACCCCCTCCCTCCGTACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACAGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACAGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGTACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCAGCCGGCACCCCTCCCTCCGCACCTTCACGGTGTCCAGGTTCTTGCCCTGGAAGTTCACATCTGTCTCGTGGTTCATGGGGATCACCAGGGGGCTGGGTCCCAGGAACTGGG
GGACCAGCTCTCAGCCCAGACCCGAGCAGGACCCAGACACCCGGGGCTGCACCGTCCTCACCCGGGCGTGGATGAGCTTGTTGACCTGCTTCTTGACGCCACCTGTGAAGTTCTCAAAGGTGGGGTCAGGCACGTACTCGAAGGCCCCGGCCTCTGTTCTGAGCAGGGCACGGTGCCCGTCCATCTCGATCAGCACCGTGAGGTTGTAGGCCTCTGGCTCCTCAGGCACAGCCGGGGACAGGAAGACGACCTTGGTGTCATTGTGGAACACGTAGTCTGTACCCACCACCTGCAGGCAAGTCCCAGCTGTCAGCCCCCGGGCGCAGACCCCGCCCTTCCTGGGCACGATCCCATGGGCCGGTGCCAGAGCTGAGCCCACGCCAGGACTGACCGTCATGGGCTGCAGGGATTCAGCCTCCCGCGGCGGCTGCCAGGACTGCAGGGGCTCCGCGATGACCACCATGGCAAACCTCTGGATCAGGCTGAAGCCCTGACCCGTGACGTTGATGCTGCGGCCACCACTGCGGAGGGCAGTGCCTTCGTGGGCTCGGCTGGCAGGGGTGGTCCCTGCAGCCTCCGCCCTCCCGTCCCCGCCCACCCTGGCCCTGACCACACGGGGCTTCCAGGTGCATGTGTGGGTCTCGGTGGGCAAAGGGGCAACGCGGTGGGACGTGCTGAGCACGAGACTGTGCCGCAAGTGGGCGGGGGGCACACGGGGCCTGGTGAGCGTGGAGCCTCTGGTGTGCCCATCTGGGTTTCTAGGAGGAAGTGGATCTGGAGTGCAGTGGGGTTTTCCGGAGGCCGCCTCCCGCTGCACAGACCAGCCCCACCACATTCCTTTCAGCACAGTCAGCCAAGGGCACTGAGGAGGCAGCTGGGTGTGGGGAGCAGAGGGGGGCGGGGGGACACCAGCCTCACCTGGCAAAGCTTCGTAGCGGCTCGAAGGCTCGCAGTACGGGGTTTTCGCGGTAGGTGAAGAAGATGCCGGGGTTGGGCACGGGGGACCCCCCGTAGGAGACCTCCAGAAGCATCTGGCCCCGTGTCGCCTGGGGGCCAGTGACACACTGGAGCTGCGCCCCAAACTTCGTCCTGGGGGAGGGAGGGTGCTGGTCTGCATCAACCCCTCCCCCGGGACCAGCCCCAGCCCGACCAGGCTGGCCCCGCCATCCCCTCAGGGCCACTCAGGTCTCAGTAAGTGCCCCCCTCCATACCCAGGGCCAGGGCCAACCAGACTCAGCAGCTGGCGGTGACACCCACACTTTACACGGGACGCCGTTGAGGGTCACCCGCACGTCCTCCTGGGAGCCCGTGTCCAGGTGGGTGCCGTGGATGGTCAGTGTGGTGCCGCCCGCCTGCGGTCCCTGCTGCGGCTCCACACTGAGAGGCTTGGGCTGCTGAAAGAGCCGCAGGGGCACTCGGGTGAGGACGGGGCACAGGACGCCCTCGGTCCTGGGCTGGATGGTAACTGTCGTGGGGAGGCGGCGGGCAGAGCCCCTCCTCCCGGTCCTCCCGGGTTCGGCAGGTCCCCGAGGCCGGGTGCTTACTTGGAAGGTGAACTGGACATTGGGAGGCGAACGGCCCAGTTTCCCGAAGACGTCCACCTCGACACCCCCCGTGAAAGGCGTCTCCGCAGCCTCGATCACACACACGATCCTGGCGGGCGACAGGCAGTGTGGCCCAGGCACTCCCCGACCCACCCCACACCCTGACACCCTCACCCCCTCAGCCTCCCCACCCACCCAGTCACCCGGAACCCCAGCGTGGGTACTGACCCAGCTGACAGGGCCCAGACCAGGGCCGTCCACTCACCGGGTGGACACGGAGTAACGTTCCGGCTGAAAGGAGCAGTTCCGGCCGGCCACAGAGATCCTCTGGATGTCCCCTGCTTGGACGCCCAAATTGGACCCCAGGATGGTGATGCGGATGCCCCCACCCAGGGGGCCCGTCTCAGGCTGGATCTGAAACCACAGAGCCGGGTGAGCAGGGAGGGGCTCATGCCAGGGACGAGGGAAGGTGTAGGCCAGGCTTCGAGGGGCTCACCCTGGTGAAGACGGGCGGCGGGCACTCGGAGGTGGTGTTGCACAGGGCCTCATACACGCACCTGCTCTGGCCCCCGCACCACGCACACCTGTAGTCGGGGTTAGCGGCCCGGCACAGGCTGCAGTCGCTGCGGCCAAAGGAGCAGTTGTAGAGGGTCACTGCGGGGAGAGCTGCCGTCAGTGGTCACCCCGTGCCTGCCCGCCCCCGACCTGCTCCCCACTGCGCCCACCTGTCCCCCCACCCACCGCCTTGTGCCCACCCGTCCCCTGCCCGCCCCCCACTGCGCCCGTGGCCCCCACCATGGAGCTTGCTGTCGATATTCTTGCCGTAAGACTTGACGTAGAGGTGCAGGGGCAGCGTCTCGTTGGCATCGTGGGACAGCTGGGGGACACGCAGGGGCACACTGCACTTCCTGCCCCCACAGAGGGGCGTGGGGCGGGGGTCACAAGGGCAGCCTCCCTGTGGCCACCGGGTCCCTTCCCAGCCAAGGGCAGCAGGGGAGGCCTTCAGGTGTCGGAAGTTCGGGAACCCCATGGACGCTGCTCTGTGCCACTCTGTCCCCAGGGAGGCAGAGGGCAGAGGGGGCTTCCCCAGCAGCACAGGGCATGGCGAGCCCCTGGCTGGGCTCTGGTCCCTGGGGTCTCCCTGCTGCCCCTCCCCTCACAGTCCTGAAGGTGACCCCCCACCCCACCCGGGGCCCTGGGGTCCAGCAGCCGAGCCGGCCTGCCCTGGAGCCGTACCTTTGGGGTCCGAAAGGCGAAGGTCCCAGATTCCTGCATGGTCACCGGCTCCATGAACTTGAGCAAGTCACTGCCCACGTGCAGGGAGGAACCCTGCAGACCATGCCGTCAGGACCCTGGACAGGCGGCTGTGGCACCCTGGCCCTCCTCCCAGAACCCCTGCAGCCCCTCCTCTGTGCCTACAGTGTGGGAGCCCTCTCCTCACCCCACACATGCCCGCCCCTCAGATTACCATGCCAGCTGACCCCTCGGCCACTCCTGAGCCCAAACACCTGTGTCTGCAGAAGCCTCTGAACGTCCTCTGTGGGTTTCCCACGGCCACCTCCACCACTCATCCACACCTGAGAACATCGCCCGGCCCACCTGACATCGTGGCCCCCACAGCTCCCTCCTCAGGAGGTGGCACTGGCCCCTCAATCTCCACACGCCTGCCTCCTCCACTGCCTCTCTTCAGGCCCATCCAAAGGCCCCCGAGTGCTGCCTCCTGGCCTCTGTCCCCGATAAATCCTGTGCCCTCTACCTCATGTGGGGGCCCCGAGTCGGGGGGCACGGGTGGAGCTCAGGCTTCCCACACACCCATCAGCACTGGCCGGCACCCCTCCCTCCGTACCTTAGCCTGCCTGTCACCAACCGGCACCCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCAACCGGCACCCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCGGCCGGCACCCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCAACCGGCACCCCCTCCCTCCGTACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACAGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACAGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGTACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCAGCCGGCACCCCTCCCTCCGCACCTTCACGGTGTCCAGGTTCTTGCCCTGGAAGTTCACATCTGTCTCGTGGTTCATGGGGATCACCAGGGGGCTGGGTCCCAGGAACTGGG
Task1_train_28911
This is a variant in PLXNB2 (plexin B2), located on Chromosome 22. Is this mutation a likely cause of disease or not?
Pathogenic; See cases
CTGTCAGCCCCCGGGCGCAGACCCCGCCCTTCCTGGGCACGATCCCATGGGCCGGTGCCAGAGCTGAGCCCACGCCAGGACTGACCGTCATGGGCTGCAGGGATTCAGCCTCCCGCGGCGGCTGCCAGGACTGCAGGGGCTCCGCGATGACCACCATGGCAAACCTCTGGATCAGGCTGAAGCCCTGACCCGTGACGTTGATGCTGCGGCCACCACTGCGGAGGGCAGTGCCTTCGTGGGCTCGGCTGGCAGGGGTGGTCCCTGCAGCCTCCGCCCTCCCGTCCCCGCCCACCCTGGCCCTGACCACACGGGGCTTCCAGGTGCATGTGTGGGTCTCGGTGGGCAAAGGGGCAACGCGGTGGGACGTGCTGAGCACGAGACTGTGCCGCAAGTGGGCGGGGGGCACACGGGGCCTGGTGAGCGTGGAGCCTCTGGTGTGCCCATCTGGGTTTCTAGGAGGAAGTGGATCTGGAGTGCAGTGGGGTTTTCCGGAGGCCGCCTCCCGCTGCACAGACCAGCCCCACCACATTCCTTTCAGCACAGTCAGCCAAGGGCACTGAGGAGGCAGCTGGGTGTGGGGAGCAGAGGGGGGCGGGGGGACACCAGCCTCACCTGGCAAAGCTTCGTAGCGGCTCGAAGGCTCGCAGTACGGGGTTTTCGCGGTAGGTGAAGAAGATGCCGGGGTTGGGCACGGGGGACCCCCCGTAGGAGACCTCCAGAAGCATCTGGCCCCGTGTCGCCTGGGGGCCAGTGACACACTGGAGCTGCGCCCCAAACTTCGTCCTGGGGGAGGGAGGGTGCTGGTCTGCATCAACCCCTCCCCCGGGACCAGCCCCAGCCCGACCAGGCTGGCCCCGCCATCCCCTCAGGGCCACTCAGGTCTCAGTAAGTGCCCCCCTCCATACCCAGGGCCAGGGCCAACCAGACTCAGCAGCTGGCGGTGACACCCACACTTTACACGGGACGCCGTTGAGGGTCACCCGCACGTCCTCCTGGGAGCCCGTGTCCAGGTGGGTGCCGTGGATGGTCAGTGTGGTGCCGCCCGCCTGCGGTCCCTGCTGCGGCTCCACACTGAGAGGCTTGGGCTGCTGAAAGAGCCGCAGGGGCACTCGGGTGAGGACGGGGCACAGGACGCCCTCGGTCCTGGGCTGGATGGTAACTGTCGTGGGGAGGCGGCGGGCAGAGCCCCTCCTCCCGGTCCTCCCGGGTTCGGCAGGTCCCCGAGGCCGGGTGCTTACTTGGAAGGTGAACTGGACATTGGGAGGCGAACGGCCCAGTTTCCCGAAGACGTCCACCTCGACACCCCCCGTGAAAGGCGTCTCCGCAGCCTCGATCACACACACGATCCTGGCGGGCGACAGGCAGTGTGGCCCAGGCACTCCCCGACCCACCCCACACCCTGACACCCTCACCCCCTCAGCCTCCCCACCCACCCAGTCACCCGGAACCCCAGCGTGGGTACTGACCCAGCTGACAGGGCCCAGACCAGGGCCGTCCACTCACCGGGTGGACACGGAGTAACGTTCCGGCTGAAAGGAGCAGTTCCGGCCGGCCACAGAGATCCTCTGGATGTCCCCTGCTTGGACGCCCAAATTGGACCCCAGGATGGTGATGCGGATGCCCCCACCCAGGGGGCCCGTCTCAGGCTGGATCTGAAACCACAGAGCCGGGTGAGCAGGGAGGGGCTCATGCCAGGGACGAGGGAAGGTGTAGGCCAGGCTTCGAGGGGCTCACCCTGGTGATGACGGGCGGCGGGCACTCGGAGGTGGTGTTGCACAGGGCCTCATACACGCACCTGCTCTGGCCCCCGCACCACGCACACCTGTAGTCGGGGTTAGCGGCCCGGCACAGGCTGCAGTCGCTGCGGCCAAAGGAGCAGTTGTAGAGGGTCACTGCGGGGAGAGCTGCCGTCAGTGGTCACCCCGTGCCTGCCCGCCCCCGACCTGCTCCCCACTGCGCCCACCTGTCCCCCCACCCACCGCCTTGTGCCCACCCGTCCCCTGCCCGCCCCCCACTGCGCCCGTGGCCCCCACCATGGAGCTTGCTGTCGATATTCTTGCCGTAAGACTTGACGTAGAGGTGCAGGGGCAGCGTCTCGTTGGCATCGTGGGACAGCTGGGGGACACGCAGGGGCACACTGCACTTCCTGCCCCCACAGAGGGGCGTGGGGCGGGGGTCACAAGGGCAGCCTCCCTGTGGCCACCGGGTCCCTTCCCAGCCAAGGGCAGCAGGGGAGGCCTTCAGGTGTCGGAAGTTCGGGAACCCCATGGACGCTGCTCTGTGCCACTCTGTCCCCAGGGAGGCAGAGGGCAGAGGGGGCTTCCCCAGCAGCACAGGGCATGGCGAGCCCCTGGCTGGGCTCTGGTCCCTGGGGTCTCCCTGCTGCCCCTCCCCTCACAGTCCTGAAGGTGACCCCCCACCCCACCCGGGGCCCTGGGGTCCAGCAGCCGAGCCGGCCTGCCCTGGAGCCGTACCTTTGGGGTCCGAAAGGCGAAGGTCCCAGATTCCTGCATGGTCACCGGCTCCATGAACTTGAGCAAGTCACTGCCCACGTGCAGGGAGGAACCCTGCAGACCATGCCGTCAGGACCCTGGACAGGCGGCTGTGGCACCCTGGCCCTCCTCCCAGAACCCCTGCAGCCCCTCCTCTGTGCCTACAGTGTGGGAGCCCTCTCCTCACCCCACACATGCCCGCCCCTCAGATTACCATGCCAGCTGACCCCTCGGCCACTCCTGAGCCCAAACACCTGTGTCTGCAGAAGCCTCTGAACGTCCTCTGTGGGTTTCCCACGGCCACCTCCACCACTCATCCACACCTGAGAACATCGCCCGGCCCACCTGACATCGTGGCCCCCACAGCTCCCTCCTCAGGAGGTGGCACTGGCCCCTCAATCTCCACACGCCTGCCTCCTCCACTGCCTCTCTTCAGGCCCATCCAAAGGCCCCCGAGTGCTGCCTCCTGGCCTCTGTCCCCGATAAATCCTGTGCCCTCTACCTCATGTGGGGGCCCCGAGTCGGGGGGCACGGGTGGAGCTCAGGCTTCCCACACACCCATCAGCACTGGCCGGCACCCCTCCCTCCGTACCTTAGCCTGCCTGTCACCAACCGGCACCCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCAACCGGCACCCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCGGCCGGCACCCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCAACCGGCACCCCCTCCCTCCGTACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACAGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACAGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGTACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCAGCCGGCACCCCTCCCTCCGCACCTTCACGGTGTCCAGGTTCTTGCCCTGGAAGTTCACATCTGTCTCGTGGTTCATGGGGATCACCAGGGGGCTGGGTCCCAGGAACTGGGGACAGCTGTCCTCCTGGGAGAGTAAGGCTGGTCAGGTGCTGCCTGGGCACAGCGGAGCAGCCATGCCCTGAACAGTCCCCTGAGGCCCCGAGGCCCCTCACCATGTGGGCACGGACGATGCCGTCCTCAGGGTTGGGCGAAGCCTCCCGGCACTCGTGGTAGCGCAGGTCCCACTGGCAGGTCCAGCGGTTGCTCACGCAGGAGATGCACCTGCATCCAGAGGGGATCGTGAGCAGGGCTGGGGTGGACGGGCAGGGTGGGGTCGATGGGCACAAGACACTCACGGCAGGTTCTCCTCCAGGCTCA
CTGTCAGCCCCCGGGCGCAGACCCCGCCCTTCCTGGGCACGATCCCATGGGCCGGTGCCAGAGCTGAGCCCACGCCAGGACTGACCGTCATGGGCTGCAGGGATTCAGCCTCCCGCGGCGGCTGCCAGGACTGCAGGGGCTCCGCGATGACCACCATGGCAAACCTCTGGATCAGGCTGAAGCCCTGACCCGTGACGTTGATGCTGCGGCCACCACTGCGGAGGGCAGTGCCTTCGTGGGCTCGGCTGGCAGGGGTGGTCCCTGCAGCCTCCGCCCTCCCGTCCCCGCCCACCCTGGCCCTGACCACACGGGGCTTCCAGGTGCATGTGTGGGTCTCGGTGGGCAAAGGGGCAACGCGGTGGGACGTGCTGAGCACGAGACTGTGCCGCAAGTGGGCGGGGGGCACACGGGGCCTGGTGAGCGTGGAGCCTCTGGTGTGCCCATCTGGGTTTCTAGGAGGAAGTGGATCTGGAGTGCAGTGGGGTTTTCCGGAGGCCGCCTCCCGCTGCACAGACCAGCCCCACCACATTCCTTTCAGCACAGTCAGCCAAGGGCACTGAGGAGGCAGCTGGGTGTGGGGAGCAGAGGGGGGCGGGGGGACACCAGCCTCACCTGGCAAAGCTTCGTAGCGGCTCGAAGGCTCGCAGTACGGGGTTTTCGCGGTAGGTGAAGAAGATGCCGGGGTTGGGCACGGGGGACCCCCCGTAGGAGACCTCCAGAAGCATCTGGCCCCGTGTCGCCTGGGGGCCAGTGACACACTGGAGCTGCGCCCCAAACTTCGTCCTGGGGGAGGGAGGGTGCTGGTCTGCATCAACCCCTCCCCCGGGACCAGCCCCAGCCCGACCAGGCTGGCCCCGCCATCCCCTCAGGGCCACTCAGGTCTCAGTAAGTGCCCCCCTCCATACCCAGGGCCAGGGCCAACCAGACTCAGCAGCTGGCGGTGACACCCACACTTTACACGGGACGCCGTTGAGGGTCACCCGCACGTCCTCCTGGGAGCCCGTGTCCAGGTGGGTGCCGTGGATGGTCAGTGTGGTGCCGCCCGCCTGCGGTCCCTGCTGCGGCTCCACACTGAGAGGCTTGGGCTGCTGAAAGAGCCGCAGGGGCACTCGGGTGAGGACGGGGCACAGGACGCCCTCGGTCCTGGGCTGGATGGTAACTGTCGTGGGGAGGCGGCGGGCAGAGCCCCTCCTCCCGGTCCTCCCGGGTTCGGCAGGTCCCCGAGGCCGGGTGCTTACTTGGAAGGTGAACTGGACATTGGGAGGCGAACGGCCCAGTTTCCCGAAGACGTCCACCTCGACACCCCCCGTGAAAGGCGTCTCCGCAGCCTCGATCACACACACGATCCTGGCGGGCGACAGGCAGTGTGGCCCAGGCACTCCCCGACCCACCCCACACCCTGACACCCTCACCCCCTCAGCCTCCCCACCCACCCAGTCACCCGGAACCCCAGCGTGGGTACTGACCCAGCTGACAGGGCCCAGACCAGGGCCGTCCACTCACCGGGTGGACACGGAGTAACGTTCCGGCTGAAAGGAGCAGTTCCGGCCGGCCACAGAGATCCTCTGGATGTCCCCTGCTTGGACGCCCAAATTGGACCCCAGGATGGTGATGCGGATGCCCCCACCCAGGGGGCCCGTCTCAGGCTGGATCTGAAACCACAGAGCCGGGTGAGCAGGGAGGGGCTCATGCCAGGGACGAGGGAAGGTGTAGGCCAGGCTTCGAGGGGCTCACCCTGGTGATGACGGGCGGCGGGCACTCGGAGGTGGTGTTGCACAGGGCCTCATACACGCACCTGCTCTGGCCCCCGCACCACGCACACCTGTAGTCGGGGTTAGCGGCCCGGCACAGGCTGCAGTCGCTGCGGCCAAAGGAGCAGTTGTAGAGGGTCACTGCGGGGAGAGCTGCCGTCAGTGGTCACCCCGTGCCTGCCCGCCCCCGACCTGCTCCCCACTGCGCCCACCTGTCCCCCCACCCACCGCCTTGTGCCCACCCGTCCCCTGCCCGCCCCCCACTGCGCCCGTGGCCCCCACCATGGAGCTTGCTGTTGATATTCTTGCCGTAAGACTTGACGTAGAGGTGCAGGGGCAGCGTCTCGTTGGCATCGTGGGACAGCTGGGGGACACGCAGGGGCACACTGCACTTCCTGCCCCCACAGAGGGGCGTGGGGCGGGGGTCACAAGGGCAGCCTCCCTGTGGCCACCGGGTCCCTTCCCAGCCAAGGGCAGCAGGGGAGGCCTTCAGGTGTCGGAAGTTCGGGAACCCCATGGACGCTGCTCTGTGCCACTCTGTCCCCAGGGAGGCAGAGGGCAGAGGGGGCTTCCCCAGCAGCACAGGGCATGGCGAGCCCCTGGCTGGGCTCTGGTCCCTGGGGTCTCCCTGCTGCCCCTCCCCTCACAGTCCTGAAGGTGACCCCCCACCCCACCCGGGGCCCTGGGGTCCAGCAGCCGAGCCGGCCTGCCCTGGAGCCGTACCTTTGGGGTCCGAAAGGCGAAGGTCCCAGATTCCTGCATGGTCACCGGCTCCATGAACTTGAGCAAGTCACTGCCCACGTGCAGGGAGGAACCCTGCAGACCATGCCGTCAGGACCCTGGACAGGCGGCTGTGGCACCCTGGCCCTCCTCCCAGAACCCCTGCAGCCCCTCCTCTGTGCCTACAGTGTGGGAGCCCTCTCCTCACCCCACACATGCCCGCCCCTCAGATTACCATGCCAGCTGACCCCTCGGCCACTCCTGAGCCCAAACACCTGTGTCTGCAGAAGCCTCTGAACGTCCTCTGTGGGTTTCCCACGGCCACCTCCACCACTCATCCACACCTGAGAACATCGCCCGGCCCACCTGACATCGTGGCCCCCACAGCTCCCTCCTCAGGAGGTGGCACTGGCCCCTCAATCTCCACACGCCTGCCTCCTCCACTGCCTCTCTTCAGGCCCATCCAAAGGCCCCCGAGTGCTGCCTCCTGGCCTCTGTCCCCGATAAATCCTGTGCCCTCTACCTCATGTGGGGGCCCCGAGTCGGGGGGCACGGGTGGAGCTCAGGCTTCCCACACACCCATCAGCACTGGCCGGCACCCCTCCCTCCGTACCTTAGCCTGCCTGTCACCAACCGGCACCCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCAACCGGCACCCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCGGCCGGCACCCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCAACCGGCACCCCCTCCCTCCGTACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACAGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACAGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGTACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCAGCCGGCACCCCTCCCTCCGCACCTTCACGGTGTCCAGGTTCTTGCCCTGGAAGTTCACATCTGTCTCGTGGTTCATGGGGATCACCAGGGGGCTGGGTCCCAGGAACTGGGGACAGCTGTCCTCCTGGGAGAGTAAGGCTGGTCAGGTGCTGCCTGGGCACAGCGGAGCAGCCATGCCCTGAACAGTCCCCTGAGGCCCCGAGGCCCCTCACCATGTGGGCACGGACGATGCCGTCCTCAGGGTTGGGCGAAGCCTCCCGGCACTCGTGGTAGCGCAGGTCCCACTGGCAGGTCCAGCGGTTGCTCACGCAGGAGATGCACCTGCATCCAGAGGGGATCGTGAGCAGGGCTGGGGTGGACGGGCAGGGTGGGGTCGATGGGCACAAGACACTCACGGCAGGTTCTCCTCCAGGCTCA
Task1_train_28912
A variant on Chromosome 22 in gene SBF1 (SET binding factor 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Charcot-Marie-Tooth disease type 4B3
ACCTGACACCCTTGGCTCCAGCTCCCCAAGGCTGCCTCAGAGGCTCAATATCAGGAGACCCCAGGCCCCAGCACCTGCCCCCAACAATGGTTCTCTCCACCCTGTTCCCTGCAGACCGAGGACCCCTGCCCACTGGCACAGGAGTCTCTTGCACCGTCTCTCCACTCTCACTCACAGACCAGGGTCTGCCCGCCTGTTCCCGCTCATGCGCCATGAGCCATGTCACTAGCAGGATAAGAGGCCTCACCTGCAGGCAGCAGTTCATCATACGGACGACAAAGTCAAACTGCTGGTGGTCCAGGACCGCACGGTTCTGCTGCACATGCAGGTGCAGCTCCTGGGCGAGGCAGCGGCGGGCAGCTCGCCCCTTCAGGGCCCTCAACACGGCTGGGAGCAGCTGGGGGTGGGGAAAGGAGACACGGGCTGAGGGCACAGAGAAGACCCACTCGGGGCCCTGGCAGGGAGGGCAGCAGGTGTCCAGGAGACCCAAATGCCTTTCAGGTGGGGTGTGCCAGACTCTGGGGCTTTGCCGACCAATAAAGACTAAAACCTCCAGTGGGCCCGACAACTCCACAAGTACAAGTTCACCAGGCCAGACACAAGGACGCAGATGCTGCACCTGTGAGCTGGCAGGGAGGTGCGCTCCGGAGGGAGGCCTTGCGGGCCGGGCCCCCTTGCTCACAGGCTCACAGCTGCCTGGCTGGCTCAGTGACTCGCCTGGCACAGGCCCGGCCACAGAAAGCCTTGGAGTTTGCGTTCTATTGCTACAACGTTCATCACAAAACTGGCCGCCCCAAAGGGACACCATACAGCCAATGAAAAACAAGAGTCTCCAACTGGCCATGATGAAAGACCCCAGAGGCGTTAAGTGAGCACCACAGAGAGCAAAACAGCAGGAGCAAAAAGCTCTGTTTCCATAAGATGCAAGGAACAGGTCACGTATGGAGGGAGCAAGCTCTGTTTTCCATCAAGTACAAAGAACAGGTCGTGTATGGGCCTACCCAATTTAAGGGGAAGGACACAGACGAAACATAATAGTGAAACCTTCTGATTTCTAAAAATGGAAGTACATCTCCCTGGCTGGGTCTCCCGCGCAGGCCCGACCCACCCCTCACTGAGGTCAAGAGAGGAGACCTGGAGCCCACCTACCCTCCGGCCAGCCCAGCCACCTCTAGCTGTCTGTTAGGCAGAGGAGGCCCTGGGGCAGCGTCAGCACTCACAAGGGTGAAGTGCAGCCTGGGTCTCCTCTGAAACCCGCTGCCCTGGCCCGGCTGGAGCCTGCACAGCCCTCACCTTCTTGGCCTCAAGCATTTTCCCCTCAAACACGTAGGAGATGCAGTTGCGCACAACCTCCAGCCGCCGGGCGCTGTTGACATGCAGCCCACTGCACCGCTCCAGTATGGCAGCTGCGGGGACAGAATACACACACTCGGACCCCTGACCCCACGCCCATCCTGGGCCACGCTCGGGGCCTGCCTTCCCCTCCCTCATTACGCACTCATGGGGGGCCCTGAGGGCACGGTGGTCCTCCTCTCGGCCTTCACAGCTGGGGGTGCACCCTGCATCTTGGCTGCAGCCTGGTCCACGATCCACTGCACGGTGCCCTCATCCAGCCGGGGGAAGGGTCGGGGCACCCGTCGCAGGTGGCTGCTCTCACCGGGCCTCTGTACCTTGTGCATCGCCACGGCTGGGTACGGGTTCTCCTGTGGGGAGACGGCAGGTGTGGGGCAGGGGCCCAGGGATCAAGGCGGTACGACGCCCTCCCGTCCTGCTACCCTCGTACGTTCTTGTAGAGCTGCTCTGCCAGTTCCTGGACGTGACGCAGGACACGCTGGGGGTGGTTCTCATCCGCCCGCATCCTTGCCACCTCGTGGGCCACCAGCTAGCGGGGTAAGCAGGAGGTTAGGTAAGCCATGGTCAGGCGGAGCCAGGGCAGGGGGCTGGGAGGGCAGGGTGGAGGTGCACCTCATCGAACAGGTCCGTAGGGCGGTATGGGACCCCACGCTCTGACACAAAGCCAGCAAAGGCCATGCCCTCCAGCACCTTCATCAGGAAATCGTCCTCTACCAGCCCACGCTGGCCCAGGAAGGCTGCCTGGATGACAGAAGGAGGTCGGTCCCTCAGGGGTCTCCACCATGCGCTTATCTCCTACCCCACGCCCAGCCACCAGGCACCCCACCTTATGGAAGCGGATGACAGGCTCCGGGTGGATGCGCACGACGTGCAGGCACCAGCGATAGCCCTGCAGCAGCTGAGCGAACAGCCGCAGGAAGACCGCGCGCAGCTCCTTGTCCTGGGAGAAGAGCTGAGTGCAGGTGAGAGCCAGTCCTGCCAATCCCCACCCCAGGCTGCCCAGGAGCTTCTCCACACCCCAACCCACCCCAAGCTGCCCCGCTCCCATCCTTCTGCCCCTCCCACCATTCTGCACTCAGGGCCACCAGCTCCTCTGAAACTGTCTGGACAAGGCACTCCTGGCTCAGCACCCTCAAGGGCTCCTGTGATCAGACGCCAAGTTCCAGCCCCTTGCTGGGCCCCTGCCGCCTCGCCTGCACCACTCACGACCACCACTCCTAACTGCTGGCAGCTGCTTTGCTCCCAGGCTCCTGCTTCTGCTACTGGAGCCGGGGCCAGCCTGGGGGTGGGGCCCTGTGTGTCAGTGGCAGCAGACCTGAGTGGGGGCAGCCTAAGTGCCTGGGGTCCCCATGCAGGAGCAGCAACGACCCCCACCTGCATCTTCAGGGAGGAGGTGGATGTCGTGGGCGGAGGGAAGGCGAGGTCAGCCAACTCCAGCTCCGGGTCCAGGACCTGCCAGCACAGAATGGAGCAGGCAGCTGCACGCTGGCCCCGGCTCTAGGCTCCCCGTGCTGCCAGGTAGCCACATCCCAAAGGCCCCCAAGGCTCCCGCTTGCCCATGGTGCCCCTCACCATGCTCAGCACACTGTGCGTCTGACTCTGCAGTGGCTCTGGCAAGGGTGGAATGTGCACACACTCAGGAATGGTGACCGTCCCTCCATCCAGATCAGCAACAATCACATCGAGCTGCGGACCAAGGGAGCCGGCAGTCAGGGACCTGCAGGCCTGGGCCGTGAGGTGGACACAAAGCACAGCCCTTACCAGCTCCTGGGTCTCTGCCTGGAAGGCCGCGTTGACCCCAATGATGAAGGGCGTGGGTGTGCTGAGGACCTCCAGCAGCTGAGCCGGCAGGATGGGCACATAGGTGAAGCTGTGCAGGCCCCAGAGGATGCAGTGAGCCAGGGGACGCGGCTGGGCAAAGGGGCCAGGAGAAGGGGCTGGGAGGGCCGGGCAGGGGTCACCTGTATCTGAGAGGAAACAGCAGTGCCAGGAGGCCCCTACAGGCATCGGCGAGCCGCTGGTAGCTCCGGGACAGGAAGAGAACCTTGTGCTCCGTGAGGGCGGCACAGAACAAAGACAGCACGTTGGTGATGCCTAAAGGAAGAAGAGAAGCTTGGAGAGGACCCTGGGCCCCCACCCAGGCAGAGTGAGAACCCACATCCCTAACTACCAGTCCCCGAGGGGAAGCCATGCGGGGGTGGGACAGACAGGCTCACCTAGCTGGCGGAAGAGCAGGGCCACGCTGCAGCGGCTGACGGGCAGCGAGTCGGCCAGTGGAGTCTGGATGACCTGCCGGTCACCAGCCCCCAAAGAGATCGTCCTCTGCAGCAAAAAAAGGATCGGGGCTCAGTAGTTTGGCCAGAGCCAGCCCAGAGTCAGCCCAGAGCTCTGTGTCCCCAGGCAGACCCTGGTGTACTGACAGACCCGAGGTGGGACTGGCTGGGATGGGCAACATGGCAAGAGGGAAACGCCATGCCCTGCCTCTGTTGTCCCAAGCAGCTGCAGAGAAAACTCAGGACAGGAGTGGCTGCTTTTGACTTGGGGGTAGGGATGGGGCCTAGGTGGGCGGAAGAAACAAAGAATCCATACCGCTCCTTCCTCAACAGAGTCCAGCTGCACAGGACAGACGGGCAGAAAGACACGGTTAGACACTCCAACACACCCAGGCACAGGGCAGGGAGCAGACAAACAAGCTGACATCAACATCCAGAGACAGGCACACACCATCAAAGGAGTGGACAGA
ACCTGACACCCTTGGCTCCAGCTCCCCAAGGCTGCCTCAGAGGCTCAATATCAGGAGACCCCAGGCCCCAGCACCTGCCCCCAACAATGGTTCTCTCCACCCTGTTCCCTGCAGACCGAGGACCCCTGCCCACTGGCACAGGAGTCTCTTGCACCGTCTCTCCACTCTCACTCACAGACCAGGGTCTGCCCGCCTGTTCCCGCTCATGCGCCATGAGCCATGTCACTAGCAGGATAAGAGGCCTCACCTGCAGGCAGCAGTTCATCATACGGACGACAAAGTCAAACTGCTGGTGGTCCAGGACCGCACGGTTCTGCTGCACATGCAGGTGCAGCTCCTGGGCGAGGCAGCGGCGGGCAGCTCGCCCCTTCAGGGCCCTCAACACGGCTGGGAGCAGCTGGGGGTGGGGAAAGGAGACACGGGCTGAGGGCACAGAGAAGACCCACTCGGGGCCCTGGCAGGGAGGGCAGCAGGTGTCCAGGAGACCCAAATGCCTTTCAGGTGGGGTGTGCCAGACTCTGGGGCTTTGCCGACCAATAAAGACTAAAACCTCCAGTGGGCCCGACAACTCCACAAGTACAAGTTCACCAGGCCAGACACAAGGACGCAGATGCTGCACCTGTGAGCTGGCAGGGAGGTGCGCTCCGGAGGGAGGCCTTGCGGGCCGGGCCCCCTTGCTCACAGGCTCACAGCTGCCTGGCTGGCTCAGTGACTCGCCTGGCACAGGCCCGGCCACAGAAAGCCTTGGAGTTTGCGTTCTATTGCTACAACGTTCATCACAAAACTGGCCGCCCCAAAGGGACACCATACAGCCAATGAAAAACAAGAGTCTCCAACTGGCCATGATGAAAGACCCCAGAGGCGTTAAGTGAGCACCACAGAGAGCAAAACAGCAGGAGCAAAAAGCTCTGTTTCCATAAGATGCAAGGAACAGGTCACGTATGGAGGGAGCAAGCTCTGTTTTCCATCAAGTACAAAGAACAGGTCGTGTATGGGCCTACCCAATTTAAGGGGAAGGACACAGACGAAACATAATAGTGAAACCTTCTGATTTCTAAAAATGGAAGTACATCTCCCTGGCTGGGTCTCCCGCGCAGGCCCGACCCACCCCTCACTGAGGTCAAGAGAGGAGACCTGGAGCCCACCTACCCTCCGGCCAGCCCAGCCACCTCTAGCTGTCTGTTAGGCAGAGGAGGCCCTGGGGCAGCGTCAGCACTCACAAGGGTGAAGTGCAGCCTGGGTCTCCTCTGAAACCCGCTGCCCTGGCCCGGCTGGAGCCTGCACAGCCCTCACCTTCTTGGCCTCAAGCATTTTCCCCTCAAACACGTAGGAGATGCAGTTGCGCACAACCTCCAGCCGCCGGGCGCTGTTGACATGCAGCCCACTGCACCGCTCCAGTATGGCAGCTGCGGGGACAGAATACACACACTCGGACCCCTGACCCCACGCCCATCCTGGGCCACGCTCGGGGCCTGCCTTCCCCTCCCTCATTACGCACTCATGGGGGGCCCTGAGGGCACGGTGGTCCTCCTCTCGGCCTTCACAGCTGGGGGTGCACCCTGCATCTTGGCTGCAGCCTGGTCCACGATCCACTGCACGGTGCCCTCATCCAGCCGGGGGAAGGGTCGGGGCACCCGTCGCAGGTGGCTGCTCTCACCGGGCCTCTGTACCTTGTGCATCGCCACGGCTGGGTACGGGTTCTCCTGTGGGGAGACGGCAGGTGTGGGGCAGGGGCCCAGGGATCAAGGCGGTACGACGCCCTCCCGTCCTGCTACCCTCGTACGTTCTTGTAGAGCTGCTCTGCCAGTTCCTGGACGTGACGCAGGACACGCTGGGGGTGGTTCTCATCCGCCCGCATCCTTGCCACCTCGTGGGCCACCAGCTAGCGGGGTAAGCAGGAGGTTAGGTAAGCCATGGTCAGGCGGAGCCAGGGCAGGGGGCTGGGAGGGCAGGGTGGAGGTGCACCTCATCGAACAGGTCCGTAGGGCGGTATGGGACCCCACGCTCTGACACAAAGCCAGCAAAGGCCATGCCCTCCAGCACCTTCACCAGGAAATCGTCCTCTACCAGCCCACGCTGGCCCAGGAAGGCTGCCTGGATGACAGAAGGAGGTCGGTCCCTCAGGGGTCTCCACCATGCGCTTATCTCCTACCCCACGCCCAGCCACCAGGCACCCCACCTTATGGAAGCGGATGACAGGCTCCGGGTGGATGCGCACGACGTGCAGGCACCAGCGATAGCCCTGCAGCAGCTGAGCGAACAGCCGCAGGAAGACCGCGCGCAGCTCCTTGTCCTGGGAGAAGAGCTGAGTGCAGGTGAGAGCCAGTCCTGCCAATCCCCACCCCAGGCTGCCCAGGAGCTTCTCCACACCCCAACCCACCCCAAGCTGCCCCGCTCCCATCCTTCTGCCCCTCCCACCATTCTGCACTCAGGGCCACCAGCTCCTCTGAAACTGTCTGGACAAGGCACTCCTGGCTCAGCACCCTCAAGGGCTCCTGTGATCAGACGCCAAGTTCCAGCCCCTTGCTGGGCCCCTGCCGCCTCGCCTGCACCACTCACGACCACCACTCCTAACTGCTGGCAGCTGCTTTGCTCCCAGGCTCCTGCTTCTGCTACTGGAGCCGGGGCCAGCCTGGGGGTGGGGCCCTGTGTGTCAGTGGCAGCAGACCTGAGTGGGGGCAGCCTAAGTGCCTGGGGTCCCCATGCAGGAGCAGCAACGACCCCCACCTGCATCTTCAGGGAGGAGGTGGATGTCGTGGGCGGAGGGAAGGCGAGGTCAGCCAACTCCAGCTCCGGGTCCAGGACCTGCCAGCACAGAATGGAGCAGGCAGCTGCACGCTGGCCCCGGCTCTAGGCTCCCCGTGCTGCCAGGTAGCCACATCCCAAAGGCCCCCAAGGCTCCCGCTTGCCCATGGTGCCCCTCACCATGCTCAGCACACTGTGCGTCTGACTCTGCAGTGGCTCTGGCAAGGGTGGAATGTGCACACACTCAGGAATGGTGACCGTCCCTCCATCCAGATCAGCAACAATCACATCGAGCTGCGGACCAAGGGAGCCGGCAGTCAGGGACCTGCAGGCCTGGGCCGTGAGGTGGACACAAAGCACAGCCCTTACCAGCTCCTGGGTCTCTGCCTGGAAGGCCGCGTTGACCCCAATGATGAAGGGCGTGGGTGTGCTGAGGACCTCCAGCAGCTGAGCCGGCAGGATGGGCACATAGGTGAAGCTGTGCAGGCCCCAGAGGATGCAGTGAGCCAGGGGACGCGGCTGGGCAAAGGGGCCAGGAGAAGGGGCTGGGAGGGCCGGGCAGGGGTCACCTGTATCTGAGAGGAAACAGCAGTGCCAGGAGGCCCCTACAGGCATCGGCGAGCCGCTGGTAGCTCCGGGACAGGAAGAGAACCTTGTGCTCCGTGAGGGCGGCACAGAACAAAGACAGCACGTTGGTGATGCCTAAAGGAAGAAGAGAAGCTTGGAGAGGACCCTGGGCCCCCACCCAGGCAGAGTGAGAACCCACATCCCTAACTACCAGTCCCCGAGGGGAAGCCATGCGGGGGTGGGACAGACAGGCTCACCTAGCTGGCGGAAGAGCAGGGCCACGCTGCAGCGGCTGACGGGCAGCGAGTCGGCCAGTGGAGTCTGGATGACCTGCCGGTCACCAGCCCCCAAAGAGATCGTCCTCTGCAGCAAAAAAAGGATCGGGGCTCAGTAGTTTGGCCAGAGCCAGCCCAGAGTCAGCCCAGAGCTCTGTGTCCCCAGGCAGACCCTGGTGTACTGACAGACCCGAGGTGGGACTGGCTGGGATGGGCAACATGGCAAGAGGGAAACGCCATGCCCTGCCTCTGTTGTCCCAAGCAGCTGCAGAGAAAACTCAGGACAGGAGTGGCTGCTTTTGACTTGGGGGTAGGGATGGGGCCTAGGTGGGCGGAAGAAACAAAGAATCCATACCGCTCCTTCCTCAACAGAGTCCAGCTGCACAGGACAGACGGGCAGAAAGACACGGTTAGACACTCCAACACACCCAGGCACAGGGCAGGGAGCAGACAAACAAGCTGACATCAACATCCAGAGACAGGCACACACCATCAAAGGAGTGGACAGA
Task1_train_28913
This variant affects the gene NCAPH2, SCO2 (non-SMC condensin II complex subunit H2| synthesis of cytochrome C oxidase 2) found on Chromosome 22. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
TTTGCACCCTGATCCCCCAGCGGCTCTAAGACAGTCCCTGTTTGCCCCCAGGTAGGCCTTACTCTGTGCCCCCCTGTGTGGAGGAGGCTCTGGGACAGAAGCGCAAGAGGAAGGGCGCTGCCAAGCTGCAGGACTTCCACCAGTGGTACCTGGCTGCCTGTGAGTGGGTGTGGTGTGCACTCCGGACCACTGGGAGCTGGGGGCTGGGCCAGGGCCAGTGGAGGAGGATCAGCACCCTTTTCCCAATGCTGTGGGCAGCTCTTGGCCTGGCTGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTGGTCAGCTGTGATCTAGGACCCCGTGGTGGCCCTGATGGGAGGTGACAGTGCCCCTCACAGATGCTTTCTCTGGACAGGTGGCTGAGCAGTGGCTGCGGCCTGCAGAGGAGGACCACCTGGAGGATTCCCTGGAAGACCTGGGGGCAGCAGGTGGGTGCCTGCCAGGGGGTGGGGTGGGGCTTGGCACCTGCCGACTAGCTGCCTGCGTGCTGTTCACTCTCCCACCTCCCAGCAGATGACTTTCTAGAGCCTGAGGAGTACATGGAGCCCGAGGGAGCAGACCCCAGGGAAGCCGCTGACCTTGGTAGGTGGGCAGCGGGCTAGGAGTGCTGAGGGGCCACTGGAGCTGGGGGCAGGGGAGAGCGTGGCCCCTTAGCTGCCCAGCTCACAGCTACCCCTTCCCAGACGCAGTGCCGATGTCCCTGAGCTACGAGGAGCTGGTTCGAAGGAATGTGGTAGGCCTGGGTTAGAGGGAGACGGGGAGGGGAGGGGGACAGGTGAGCGGTGCCCAGGCCCCTGCTTGGGAGGCAGTAGCTCCTGCTGATCCTCCCCTAGGAGCTCTTCATCGCCACCTCCCAGAAGTTTGTCCAGGAGACAGAGCTGAGCCAGCGCATCAGGGACTGGGAGGACACAGTGCAGCCTCTGCTCCAGGAGCAGGTGAGGCGGGGCCGCTGGGAACCAGAGCTGTGTGCCACGGGTCTGTCCAGGGCCTTGCCTCTCTCCGCAGCCAACATGCCCCTCCCCTGTGCAGGAGCAGCATGTGCCCTTTGACATCCACACCTATGGGGACCAGCTGGTCTCACGGTTCCCCCAGCTCAATGAGTGGTGTCCCTTTGCGGAGCTGGTGGCTGGCCAGCCGGCCTTCGAGGTGTGTCGTTCCATGCTGGCCTCCCTGCAGCTGGTGAGTAGCCTGGGATACGTGGGAGGGGGAGACGGTCCCCAGACCCTGCTGATGTGCCACCCCTGCAGGCCAATGACTACACAGTGGAGATAACCCAGCAGCCCGGGCTGGAGATGGCCGTGGACACCATGTCCCTGAGACTGCTCACGCACCAGCGAGCGCACAAGCGCTTCCAGACCTACGCTGCCCCCTCCATGGCCCAGCCCTGAGTGGGGAGCACCGAGGCAGGGGTGGGGGAATGTGTACTGAGGAGCCGTGTGTCTGCTCCTGGCTGGCCCGGCCTAATAAAGCAGTGTTGCCATCTCATCTTCCCCCTAAAAACCCTTTTATGTACACCTGCGCAGAGAAGAGGGCTGCCTGGCCTCCCTGGGCCGCTGGTACAGATCACACACACACACAGATTAAACGCAGCCCGTTTAATGATGGGGCCCAGACTGCAGTGGCTCAAGACAGGACACTGCGGAAAGCCGCCATGTGCCGCCGCACACTGTCTGAGATCTGCTCAGCCGATCTGCTCCGGCCGTAGTAATCCGTGAAGAGGCCGTCAGGGTTGAGCAGGTAGATGGCAATGGAGTGGTCCACGATGTAGTCCTGGTCCTCATCCTTGGGGCCTGCATTGTAGTACACGCGGTAACTGTGACTAGCCTGGGCAACCTGTTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGC
TTTGCACCCTGATCCCCCAGCGGCTCTAAGACAGTCCCTGTTTGCCCCCAGGTAGGCCTTACTCTGTGCCCCCCTGTGTGGAGGAGGCTCTGGGACAGAAGCGCAAGAGGAAGGGCGCTGCCAAGCTGCAGGACTTCCACCAGTGGTACCTGGCTGCCTGTGAGTGGGTGTGGTGTGCACTCCGGACCACTGGGAGCTGGGGGCTGGGCCAGGGCCAGTGGAGGAGGATCAGCACCCTTTTCCCAATGCTGTGGGCAGCTCTTGGCCTGGCTGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTGGTCAGCTGTGATCTAGGACCCCGTGGTGGCCCTGATGGGAGGTGACAGTGCCCCTCACAGATGCTTTCTCTGGACAGGTGGCTGAGCAGTGGCTGCGGCCTGCAGAGGAGGACCACCTGGAGGATTCCCTGGAAGACCTGGGGGCAGCAGGTGGGTGCCTGCCAGGGGGTGGGGTGGGGCTTGGCACCTGCCGACTAGCTGCCTGCGTGCTGTTCACTCTCCCACCTCCCAGCAGATGACTTTCTAGAGCCTGAGGAGTACATGGAGCCCGAGGGAGCAGACCCCAGGGAAGCCGCTGACCTTGGTAGGTGGGCAGCGGGCTAGGAGTGCTGAGGGGCCACTGGAGCTGGGGGCAGGGGAGAGCGTGGCCCCTTAGCTGCCCAGCTCACAGCTACCCCTTCCCAGACGCAGTGCCGATGTCCCTGAGCTACGAGGAGCTGGTTCGAAGGAATGTGGTAGGCCTGGGTTAGAGGGAGACGGGGAGGGGAGGGGGACAGGTGAGCGGTGCCCAGGCCCCTGCTTGGGAGGCAGTAGCTCCTGCTGATCCTCCCCTAGGAGCTCTTCATCGCCACCTCCCAGAAGTTTGTCCAGGAGACAGAGCTGAGCCAGCGCATCAGGGACTGGGAGGACACAGTGCAGCCTCTGCTCCAGGAGCAGGTGAGGCGGGGCCGCTGGGAACCAGAGCTGTGTGCCACGGGTCTGTCCAGGGCCTTGCCTCTCTCCGCAGCCAACATGCCCCTCCCCTGTGCAGGAGCAGCATGTGCCCTTTGACATCCACACCTATGGGGACCAGCTGGTCTCACGGTTCCCCCAGCTCAATGAGTGGTGTCCCTTTGCGGAGCTGGTGGCTGGCCAGCCGGCCTTCGAGGTGTGTCGTTCCATGCTGGCCTCCCTGCAGCTGGTGAGTAGCCTGGGATACGTGGGAGGGGGAGACGGTCCCCAGACCCTGCTGATGTGCCACCCCTGCAGGCCAATGACTACACAGTGGAGATAACCCAGCAGCCCGGGCTGGAGATGGCCGTGGACACCATGTCCCTGAGACTGCTCACGCACCAGCGAGCGCACAAGCGCTTCCAGACCTACGCTGCCCCCTCCATGGCCCAGCCCTGAGTGGGGAGCACCGAGGCAGGGGTGGGGGAATGTGTACTGAGGAGCCGTGTGTCTGCTCCTGGCTGGCCCGGCCTAATAAAGCAGTGTTGCCATCTCATCTTCCCCCTAAAAACCCTTTTATGTACACCTGCGCAGAGAAGAGGGCTGCCTGGCCTCCCTGGGCCGCTGGTACAGATCACACACACACACAGATTAAACGCAGCCCGTTTAATGATGGGGCCCAGACTGCAGTGGCTCAAGACAGGACACTGCGGAAAGCCGCCATGTGCCGCCGCACACTGTCTGAGATCTGCTCAGCCGATCTGCTCCGGCCGTAGTAATCCGTGAAGAGGCCGTCAGGGTTGAGCAGGTAGATGGCAATGAAGTGGTCCACGATGTAGTCCTGGTCCTCATCCTTGGGGCCTGCATTGTAGTACACGCGGTAACTGTGACTAGCCTGGGCAACCTGTTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGC
Task1_train_28914
A variant was discovered in gene NCAPH2, SCO2 (non-SMC condensin II complex subunit H2| synthesis of cytochrome C oxidase 2), Chromosome 22. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
GAAGCGCAAGAGGAAGGGCGCTGCCAAGCTGCAGGACTTCCACCAGTGGTACCTGGCTGCCTGTGAGTGGGTGTGGTGTGCACTCCGGACCACTGGGAGCTGGGGGCTGGGCCAGGGCCAGTGGAGGAGGATCAGCACCCTTTTCCCAATGCTGTGGGCAGCTCTTGGCCTGGCTGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTGGTCAGCTGTGATCTAGGACCCCGTGGTGGCCCTGATGGGAGGTGACAGTGCCCCTCACAGATGCTTTCTCTGGACAGGTGGCTGAGCAGTGGCTGCGGCCTGCAGAGGAGGACCACCTGGAGGATTCCCTGGAAGACCTGGGGGCAGCAGGTGGGTGCCTGCCAGGGGGTGGGGTGGGGCTTGGCACCTGCCGACTAGCTGCCTGCGTGCTGTTCACTCTCCCACCTCCCAGCAGATGACTTTCTAGAGCCTGAGGAGTACATGGAGCCCGAGGGAGCAGACCCCAGGGAAGCCGCTGACCTTGGTAGGTGGGCAGCGGGCTAGGAGTGCTGAGGGGCCACTGGAGCTGGGGGCAGGGGAGAGCGTGGCCCCTTAGCTGCCCAGCTCACAGCTACCCCTTCCCAGACGCAGTGCCGATGTCCCTGAGCTACGAGGAGCTGGTTCGAAGGAATGTGGTAGGCCTGGGTTAGAGGGAGACGGGGAGGGGAGGGGGACAGGTGAGCGGTGCCCAGGCCCCTGCTTGGGAGGCAGTAGCTCCTGCTGATCCTCCCCTAGGAGCTCTTCATCGCCACCTCCCAGAAGTTTGTCCAGGAGACAGAGCTGAGCCAGCGCATCAGGGACTGGGAGGACACAGTGCAGCCTCTGCTCCAGGAGCAGGTGAGGCGGGGCCGCTGGGAACCAGAGCTGTGTGCCACGGGTCTGTCCAGGGCCTTGCCTCTCTCCGCAGCCAACATGCCCCTCCCCTGTGCAGGAGCAGCATGTGCCCTTTGACATCCACACCTATGGGGACCAGCTGGTCTCACGGTTCCCCCAGCTCAATGAGTGGTGTCCCTTTGCGGAGCTGGTGGCTGGCCAGCCGGCCTTCGAGGTGTGTCGTTCCATGCTGGCCTCCCTGCAGCTGGTGAGTAGCCTGGGATACGTGGGAGGGGGAGACGGTCCCCAGACCCTGCTGATGTGCCACCCCTGCAGGCCAATGACTACACAGTGGAGATAACCCAGCAGCCCGGGCTGGAGATGGCCGTGGACACCATGTCCCTGAGACTGCTCACGCACCAGCGAGCGCACAAGCGCTTCCAGACCTACGCTGCCCCCTCCATGGCCCAGCCCTGAGTGGGGAGCACCGAGGCAGGGGTGGGGGAATGTGTACTGAGGAGCCGTGTGTCTGCTCCTGGCTGGCCCGGCCTAATAAAGCAGTGTTGCCATCTCATCTTCCCCCTAAAAACCCTTTTATGTACACCTGCGCAGAGAAGAGGGCTGCCTGGCCTCCCTGGGCCGCTGGTACAGATCACACACACACACAGATTAAACGCAGCCCGTTTAATGATGGGGCCCAGACTGCAGTGGCTCAAGACAGGACACTGCGGAAAGCCGCCATGTGCCGCCGCACACTGTCTGAGATCTGCTCAGCCGATCTGCTCCGGCCGTAGTAATCCGTGAAGAGGCCGTCAGGGTTGAGCAGGTAGATGGCAATGGAGTGGTCCACGATGTAGTCCTGGTCCTCATCCTTGGGGCCTGCATTGTAGTACACGCGGTAACTGTGACTAGCCTGGGCAACCTGTTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCG
GAAGCGCAAGAGGAAGGGCGCTGCCAAGCTGCAGGACTTCCACCAGTGGTACCTGGCTGCCTGTGAGTGGGTGTGGTGTGCACTCCGGACCACTGGGAGCTGGGGGCTGGGCCAGGGCCAGTGGAGGAGGATCAGCACCCTTTTCCCAATGCTGTGGGCAGCTCTTGGCCTGGCTGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTGGTCAGCTGTGATCTAGGACCCCGTGGTGGCCCTGATGGGAGGTGACAGTGCCCCTCACAGATGCTTTCTCTGGACAGGTGGCTGAGCAGTGGCTGCGGCCTGCAGAGGAGGACCACCTGGAGGATTCCCTGGAAGACCTGGGGGCAGCAGGTGGGTGCCTGCCAGGGGGTGGGGTGGGGCTTGGCACCTGCCGACTAGCTGCCTGCGTGCTGTTCACTCTCCCACCTCCCAGCAGATGACTTTCTAGAGCCTGAGGAGTACATGGAGCCCGAGGGAGCAGACCCCAGGGAAGCCGCTGACCTTGGTAGGTGGGCAGCGGGCTAGGAGTGCTGAGGGGCCACTGGAGCTGGGGGCAGGGGAGAGCGTGGCCCCTTAGCTGCCCAGCTCACAGCTACCCCTTCCCAGACGCAGTGCCGATGTCCCTGAGCTACGAGGAGCTGGTTCGAAGGAATGTGGTAGGCCTGGGTTAGAGGGAGACGGGGAGGGGAGGGGGACAGGTGAGCGGTGCCCAGGCCCCTGCTTGGGAGGCAGTAGCTCCTGCTGATCCTCCCCTAGGAGCTCTTCATCGCCACCTCCCAGAAGTTTGTCCAGGAGACAGAGCTGAGCCAGCGCATCAGGGACTGGGAGGACACAGTGCAGCCTCTGCTCCAGGAGCAGGTGAGGCGGGGCCGCTGGGAACCAGAGCTGTGTGCCACGGGTCTGTCCAGGGCCTTGCCTCTCTCCGCAGCCAACATGCCCCTCCCCTGTGCAGGAGCAGCATGTGCCCTTTGACATCCACACCTATGGGGACCAGCTGGTCTCACGGTTCCCCCAGCTCAATGAGTGGTGTCCCTTTGCGGAGCTGGTGGCTGGCCAGCCGGCCTTCGAGGTGTGTCGTTCCATGCTGGCCTCCCTGCAGCTGGTGAGTAGCCTGGGATACGTGGGAGGGGGAGACGGTCCCCAGACCCTGCTGATGTGCCACCCCTGCAGGCCAATGACTACACAGTGGAGATAACCCAGCAGCCCGGGCTGGAGATGGCCGTGGACACCATGTCCCTGAGACTGCTCACGCACCAGCGAGCGCACAAGCGCTTCCAGACCTACGCTGCCCCCTCCATGGCCCAGCCCTGAGTGGGGAGCACCGAGGCAGGGGTGGGGGAATGTGTACTGAGGAGCCGTGTGTCTGCTCCTGGCTGGCCCGGCCTAATAAAGCAGTGTTGCCATCTCATCTTCCCCCTAAAAACCCTTTTATGTACACCTGCGCAGAGAAGAGGGCTGCCTGGCCTCCCTGGGCCGCTGGTACAGATCACACACACACACAGATTAAACGCAGCCCGTTTAATGATGGGGCCCAGACTGCAGTGGCTCAAGACAGGACACTGCGGAAAGCCGCCATGTGCCGCCGCACACTGTCTGAGATCTGCTCAGCCGATCTGCTCCGGCCGTAGTAATCCGTGAAGAGGCCGTCAGGGTTGAGCAGGTAGATGGCAATGGAGTGGTCCACGATGTAGTCCTGGTCCTCATCCTTGGGGCCTGCATTGTAGTACACGCGGTAACTGTGACTAGCCTGGGCAACCTGTTTGGTGGAGCTGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCG
Task1_train_28915
Here’s a variant in NCAPH2, SCO2 (non-SMC condensin II complex subunit H2| synthesis of cytochrome C oxidase 2) located on Chromosome 22. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
GAAGCGCAAGAGGAAGGGCGCTGCCAAGCTGCAGGACTTCCACCAGTGGTACCTGGCTGCCTGTGAGTGGGTGTGGTGTGCACTCCGGACCACTGGGAGCTGGGGGCTGGGCCAGGGCCAGTGGAGGAGGATCAGCACCCTTTTCCCAATGCTGTGGGCAGCTCTTGGCCTGGCTGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTGGTCAGCTGTGATCTAGGACCCCGTGGTGGCCCTGATGGGAGGTGACAGTGCCCCTCACAGATGCTTTCTCTGGACAGGTGGCTGAGCAGTGGCTGCGGCCTGCAGAGGAGGACCACCTGGAGGATTCCCTGGAAGACCTGGGGGCAGCAGGTGGGTGCCTGCCAGGGGGTGGGGTGGGGCTTGGCACCTGCCGACTAGCTGCCTGCGTGCTGTTCACTCTCCCACCTCCCAGCAGATGACTTTCTAGAGCCTGAGGAGTACATGGAGCCCGAGGGAGCAGACCCCAGGGAAGCCGCTGACCTTGGTAGGTGGGCAGCGGGCTAGGAGTGCTGAGGGGCCACTGGAGCTGGGGGCAGGGGAGAGCGTGGCCCCTTAGCTGCCCAGCTCACAGCTACCCCTTCCCAGACGCAGTGCCGATGTCCCTGAGCTACGAGGAGCTGGTTCGAAGGAATGTGGTAGGCCTGGGTTAGAGGGAGACGGGGAGGGGAGGGGGACAGGTGAGCGGTGCCCAGGCCCCTGCTTGGGAGGCAGTAGCTCCTGCTGATCCTCCCCTAGGAGCTCTTCATCGCCACCTCCCAGAAGTTTGTCCAGGAGACAGAGCTGAGCCAGCGCATCAGGGACTGGGAGGACACAGTGCAGCCTCTGCTCCAGGAGCAGGTGAGGCGGGGCCGCTGGGAACCAGAGCTGTGTGCCACGGGTCTGTCCAGGGCCTTGCCTCTCTCCGCAGCCAACATGCCCCTCCCCTGTGCAGGAGCAGCATGTGCCCTTTGACATCCACACCTATGGGGACCAGCTGGTCTCACGGTTCCCCCAGCTCAATGAGTGGTGTCCCTTTGCGGAGCTGGTGGCTGGCCAGCCGGCCTTCGAGGTGTGTCGTTCCATGCTGGCCTCCCTGCAGCTGGTGAGTAGCCTGGGATACGTGGGAGGGGGAGACGGTCCCCAGACCCTGCTGATGTGCCACCCCTGCAGGCCAATGACTACACAGTGGAGATAACCCAGCAGCCCGGGCTGGAGATGGCCGTGGACACCATGTCCCTGAGACTGCTCACGCACCAGCGAGCGCACAAGCGCTTCCAGACCTACGCTGCCCCCTCCATGGCCCAGCCCTGAGTGGGGAGCACCGAGGCAGGGGTGGGGGAATGTGTACTGAGGAGCCGTGTGTCTGCTCCTGGCTGGCCCGGCCTAATAAAGCAGTGTTGCCATCTCATCTTCCCCCTAAAAACCCTTTTATGTACACCTGCGCAGAGAAGAGGGCTGCCTGGCCTCCCTGGGCCGCTGGTACAGATCACACACACACACAGATTAAACGCAGCCCGTTTAATGATGGGGCCCAGACTGCAGTGGCTCAAGACAGGACACTGCGGAAAGCCGCCATGTGCCGCCGCACACTGTCTGAGATCTGCTCAGCCGATCTGCTCCGGCCGTAGTAATCCGTGAAGAGGCCGTCAGGGTTGAGCAGGTAGATGGCAATGGAGTGGTCCACGATGTAGTCCTGGTCCTCATCCTTGGGGCCTGCATTGTAGTACACGCGGTAACTGTGACTAGCCTGGGCAACCTGTTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCG
GAAGCGCAAGAGGAAGGGCGCTGCCAAGCTGCAGGACTTCCACCAGTGGTACCTGGCTGCCTGTGAGTGGGTGTGGTGTGCACTCCGGACCACTGGGAGCTGGGGGCTGGGCCAGGGCCAGTGGAGGAGGATCAGCACCCTTTTCCCAATGCTGTGGGCAGCTCTTGGCCTGGCTGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTGGTCAGCTGTGATCTAGGACCCCGTGGTGGCCCTGATGGGAGGTGACAGTGCCCCTCACAGATGCTTTCTCTGGACAGGTGGCTGAGCAGTGGCTGCGGCCTGCAGAGGAGGACCACCTGGAGGATTCCCTGGAAGACCTGGGGGCAGCAGGTGGGTGCCTGCCAGGGGGTGGGGTGGGGCTTGGCACCTGCCGACTAGCTGCCTGCGTGCTGTTCACTCTCCCACCTCCCAGCAGATGACTTTCTAGAGCCTGAGGAGTACATGGAGCCCGAGGGAGCAGACCCCAGGGAAGCCGCTGACCTTGGTAGGTGGGCAGCGGGCTAGGAGTGCTGAGGGGCCACTGGAGCTGGGGGCAGGGGAGAGCGTGGCCCCTTAGCTGCCCAGCTCACAGCTACCCCTTCCCAGACGCAGTGCCGATGTCCCTGAGCTACGAGGAGCTGGTTCGAAGGAATGTGGTAGGCCTGGGTTAGAGGGAGACGGGGAGGGGAGGGGGACAGGTGAGCGGTGCCCAGGCCCCTGCTTGGGAGGCAGTAGCTCCTGCTGATCCTCCCCTAGGAGCTCTTCATCGCCACCTCCCAGAAGTTTGTCCAGGAGACAGAGCTGAGCCAGCGCATCAGGGACTGGGAGGACACAGTGCAGCCTCTGCTCCAGGAGCAGGTGAGGCGGGGCCGCTGGGAACCAGAGCTGTGTGCCACGGGTCTGTCCAGGGCCTTGCCTCTCTCCGCAGCCAACATGCCCCTCCCCTGTGCAGGAGCAGCATGTGCCCTTTGACATCCACACCTATGGGGACCAGCTGGTCTCACGGTTCCCCCAGCTCAATGAGTGGTGTCCCTTTGCGGAGCTGGTGGCTGGCCAGCCGGCCTTCGAGGTGTGTCGTTCCATGCTGGCCTCCCTGCAGCTGGTGAGTAGCCTGGGATACGTGGGAGGGGGAGACGGTCCCCAGACCCTGCTGATGTGCCACCCCTGCAGGCCAATGACTACACAGTGGAGATAACCCAGCAGCCCGGGCTGGAGATGGCCGTGGACACCATGTCCCTGAGACTGCTCACGCACCAGCGAGCGCACAAGCGCTTCCAGACCTACGCTGCCCCCTCCATGGCCCAGCCCTGAGTGGGGAGCACCGAGGCAGGGGTGGGGGAATGTGTACTGAGGAGCCGTGTGTCTGCTCCTGGCTGGCCCGGCCTAATAAAGCAGTGTTGCCATCTCATCTTCCCCCTAAAAACCCTTTTATGTACACCTGCGCAGAGAAGAGGGCTGCCTGGCCTCCCTGGGCCGCTGGTACAGATCACACACACACACAGATTAAACGCAGCCCGTTTAATGATGGGGCCCAGACTGCAGTGGCTCAAGACAGGACACTGCGGAAAGCCGCCATGTGCCGCCGCACACTGTCTGAGATCTGCTCAGCCGATCTGCTCCGGCCGTAGTAATCCGTGAAGAGGCCGTCAGGGTTGAGCAGGTAGATGGCAATGGAGTGGTCCACGATGTAGTCCTGGTCCTCATCCTTGGGGCCTGCATTGTAGTACACGCGGTAACTGTGACTAGCCTGGGCAACCTGTTTGGTGGAGCTGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCG
Task1_train_28916
Here is a variant affecting NCAPH2, SCO2 (non-SMC condensin II complex subunit H2| synthesis of cytochrome C oxidase 2) on Chromosome 22. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Myopia 6
GAAGCGCAAGAGGAAGGGCGCTGCCAAGCTGCAGGACTTCCACCAGTGGTACCTGGCTGCCTGTGAGTGGGTGTGGTGTGCACTCCGGACCACTGGGAGCTGGGGGCTGGGCCAGGGCCAGTGGAGGAGGATCAGCACCCTTTTCCCAATGCTGTGGGCAGCTCTTGGCCTGGCTGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTGGTCAGCTGTGATCTAGGACCCCGTGGTGGCCCTGATGGGAGGTGACAGTGCCCCTCACAGATGCTTTCTCTGGACAGGTGGCTGAGCAGTGGCTGCGGCCTGCAGAGGAGGACCACCTGGAGGATTCCCTGGAAGACCTGGGGGCAGCAGGTGGGTGCCTGCCAGGGGGTGGGGTGGGGCTTGGCACCTGCCGACTAGCTGCCTGCGTGCTGTTCACTCTCCCACCTCCCAGCAGATGACTTTCTAGAGCCTGAGGAGTACATGGAGCCCGAGGGAGCAGACCCCAGGGAAGCCGCTGACCTTGGTAGGTGGGCAGCGGGCTAGGAGTGCTGAGGGGCCACTGGAGCTGGGGGCAGGGGAGAGCGTGGCCCCTTAGCTGCCCAGCTCACAGCTACCCCTTCCCAGACGCAGTGCCGATGTCCCTGAGCTACGAGGAGCTGGTTCGAAGGAATGTGGTAGGCCTGGGTTAGAGGGAGACGGGGAGGGGAGGGGGACAGGTGAGCGGTGCCCAGGCCCCTGCTTGGGAGGCAGTAGCTCCTGCTGATCCTCCCCTAGGAGCTCTTCATCGCCACCTCCCAGAAGTTTGTCCAGGAGACAGAGCTGAGCCAGCGCATCAGGGACTGGGAGGACACAGTGCAGCCTCTGCTCCAGGAGCAGGTGAGGCGGGGCCGCTGGGAACCAGAGCTGTGTGCCACGGGTCTGTCCAGGGCCTTGCCTCTCTCCGCAGCCAACATGCCCCTCCCCTGTGCAGGAGCAGCATGTGCCCTTTGACATCCACACCTATGGGGACCAGCTGGTCTCACGGTTCCCCCAGCTCAATGAGTGGTGTCCCTTTGCGGAGCTGGTGGCTGGCCAGCCGGCCTTCGAGGTGTGTCGTTCCATGCTGGCCTCCCTGCAGCTGGTGAGTAGCCTGGGATACGTGGGAGGGGGAGACGGTCCCCAGACCCTGCTGATGTGCCACCCCTGCAGGCCAATGACTACACAGTGGAGATAACCCAGCAGCCCGGGCTGGAGATGGCCGTGGACACCATGTCCCTGAGACTGCTCACGCACCAGCGAGCGCACAAGCGCTTCCAGACCTACGCTGCCCCCTCCATGGCCCAGCCCTGAGTGGGGAGCACCGAGGCAGGGGTGGGGGAATGTGTACTGAGGAGCCGTGTGTCTGCTCCTGGCTGGCCCGGCCTAATAAAGCAGTGTTGCCATCTCATCTTCCCCCTAAAAACCCTTTTATGTACACCTGCGCAGAGAAGAGGGCTGCCTGGCCTCCCTGGGCCGCTGGTACAGATCACACACACACACAGATTAAACGCAGCCCGTTTAATGATGGGGCCCAGACTGCAGTGGCTCAAGACAGGACACTGCGGAAAGCCGCCATGTGCCGCCGCACACTGTCTGAGATCTGCTCAGCCGATCTGCTCCGGCCGTAGTAATCCGTGAAGAGGCCGTCAGGGTTGAGCAGGTAGATGGCAATGGAGTGGTCCACGATGTAGTCCTGGTCCTCATCCTTGGGGCCTGCATTGTAGTACACGCGGTAACTGTGACTAGCCTGGGCAACCTGTTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCG
GAAGCGCAAGAGGAAGGGCGCTGCCAAGCTGCAGGACTTCCACCAGTGGTACCTGGCTGCCTGTGAGTGGGTGTGGTGTGCACTCCGGACCACTGGGAGCTGGGGGCTGGGCCAGGGCCAGTGGAGGAGGATCAGCACCCTTTTCCCAATGCTGTGGGCAGCTCTTGGCCTGGCTGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTGGTCAGCTGTGATCTAGGACCCCGTGGTGGCCCTGATGGGAGGTGACAGTGCCCCTCACAGATGCTTTCTCTGGACAGGTGGCTGAGCAGTGGCTGCGGCCTGCAGAGGAGGACCACCTGGAGGATTCCCTGGAAGACCTGGGGGCAGCAGGTGGGTGCCTGCCAGGGGGTGGGGTGGGGCTTGGCACCTGCCGACTAGCTGCCTGCGTGCTGTTCACTCTCCCACCTCCCAGCAGATGACTTTCTAGAGCCTGAGGAGTACATGGAGCCCGAGGGAGCAGACCCCAGGGAAGCCGCTGACCTTGGTAGGTGGGCAGCGGGCTAGGAGTGCTGAGGGGCCACTGGAGCTGGGGGCAGGGGAGAGCGTGGCCCCTTAGCTGCCCAGCTCACAGCTACCCCTTCCCAGACGCAGTGCCGATGTCCCTGAGCTACGAGGAGCTGGTTCGAAGGAATGTGGTAGGCCTGGGTTAGAGGGAGACGGGGAGGGGAGGGGGACAGGTGAGCGGTGCCCAGGCCCCTGCTTGGGAGGCAGTAGCTCCTGCTGATCCTCCCCTAGGAGCTCTTCATCGCCACCTCCCAGAAGTTTGTCCAGGAGACAGAGCTGAGCCAGCGCATCAGGGACTGGGAGGACACAGTGCAGCCTCTGCTCCAGGAGCAGGTGAGGCGGGGCCGCTGGGAACCAGAGCTGTGTGCCACGGGTCTGTCCAGGGCCTTGCCTCTCTCCGCAGCCAACATGCCCCTCCCCTGTGCAGGAGCAGCATGTGCCCTTTGACATCCACACCTATGGGGACCAGCTGGTCTCACGGTTCCCCCAGCTCAATGAGTGGTGTCCCTTTGCGGAGCTGGTGGCTGGCCAGCCGGCCTTCGAGGTGTGTCGTTCCATGCTGGCCTCCCTGCAGCTGGTGAGTAGCCTGGGATACGTGGGAGGGGGAGACGGTCCCCAGACCCTGCTGATGTGCCACCCCTGCAGGCCAATGACTACACAGTGGAGATAACCCAGCAGCCCGGGCTGGAGATGGCCGTGGACACCATGTCCCTGAGACTGCTCACGCACCAGCGAGCGCACAAGCGCTTCCAGACCTACGCTGCCCCCTCCATGGCCCAGCCCTGAGTGGGGAGCACCGAGGCAGGGGTGGGGGAATGTGTACTGAGGAGCCGTGTGTCTGCTCCTGGCTGGCCCGGCCTAATAAAGCAGTGTTGCCATCTCATCTTCCCCCTAAAAACCCTTTTATGTACACCTGCGCAGAGAAGAGGGCTGCCTGGCCTCCCTGGGCCGCTGGTACAGATCACACACACACACAGATTAAACGCAGCCCGTTTAATGATGGGGCCCAGACTGCAGTGGCTCAAGACAGGACACTGCGGAAAGCCGCCATGTGCCGCCGCACACTGTCTGAGATCTGCTCAGCCGATCTGCTCCGGCCGTAGTAATCCGTGAAGAGGCCGTCAGGGTTGAGCAGGTAGATGGCAATGGAGTGGTCCACGATGTAGTCCTGGTCCTCATCCTTGGGGCCTGCATTGTAGTACACGCGGTAACTGTGACTAGCCTGGGCAACCTGTTTGGTGGAGCTGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCG
Task1_train_28917
Consider this mutation in NCAPH2, SCO2 (non-SMC condensin II complex subunit H2| synthesis of cytochrome C oxidase 2) on Chromosome 22. Is this a benign change or a disease-causing variant?
Pathogenic; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
AGCTCTTGGCCTGGCTGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTGGTCAGCTGTGATCTAGGACCCCGTGGTGGCCCTGATGGGAGGTGACAGTGCCCCTCACAGATGCTTTCTCTGGACAGGTGGCTGAGCAGTGGCTGCGGCCTGCAGAGGAGGACCACCTGGAGGATTCCCTGGAAGACCTGGGGGCAGCAGGTGGGTGCCTGCCAGGGGGTGGGGTGGGGCTTGGCACCTGCCGACTAGCTGCCTGCGTGCTGTTCACTCTCCCACCTCCCAGCAGATGACTTTCTAGAGCCTGAGGAGTACATGGAGCCCGAGGGAGCAGACCCCAGGGAAGCCGCTGACCTTGGTAGGTGGGCAGCGGGCTAGGAGTGCTGAGGGGCCACTGGAGCTGGGGGCAGGGGAGAGCGTGGCCCCTTAGCTGCCCAGCTCACAGCTACCCCTTCCCAGACGCAGTGCCGATGTCCCTGAGCTACGAGGAGCTGGTTCGAAGGAATGTGGTAGGCCTGGGTTAGAGGGAGACGGGGAGGGGAGGGGGACAGGTGAGCGGTGCCCAGGCCCCTGCTTGGGAGGCAGTAGCTCCTGCTGATCCTCCCCTAGGAGCTCTTCATCGCCACCTCCCAGAAGTTTGTCCAGGAGACAGAGCTGAGCCAGCGCATCAGGGACTGGGAGGACACAGTGCAGCCTCTGCTCCAGGAGCAGGTGAGGCGGGGCCGCTGGGAACCAGAGCTGTGTGCCACGGGTCTGTCCAGGGCCTTGCCTCTCTCCGCAGCCAACATGCCCCTCCCCTGTGCAGGAGCAGCATGTGCCCTTTGACATCCACACCTATGGGGACCAGCTGGTCTCACGGTTCCCCCAGCTCAATGAGTGGTGTCCCTTTGCGGAGCTGGTGGCTGGCCAGCCGGCCTTCGAGGTGTGTCGTTCCATGCTGGCCTCCCTGCAGCTGGTGAGTAGCCTGGGATACGTGGGAGGGGGAGACGGTCCCCAGACCCTGCTGATGTGCCACCCCTGCAGGCCAATGACTACACAGTGGAGATAACCCAGCAGCCCGGGCTGGAGATGGCCGTGGACACCATGTCCCTGAGACTGCTCACGCACCAGCGAGCGCACAAGCGCTTCCAGACCTACGCTGCCCCCTCCATGGCCCAGCCCTGAGTGGGGAGCACCGAGGCAGGGGTGGGGGAATGTGTACTGAGGAGCCGTGTGTCTGCTCCTGGCTGGCCCGGCCTAATAAAGCAGTGTTGCCATCTCATCTTCCCCCTAAAAACCCTTTTATGTACACCTGCGCAGAGAAGAGGGCTGCCTGGCCTCCCTGGGCCGCTGGTACAGATCACACACACACACAGATTAAACGCAGCCCGTTTAATGATGGGGCCCAGACTGCAGTGGCTCAAGACAGGACACTGCGGAAAGCCGCCATGTGCCGCCGCACACTGTCTGAGATCTGCTCAGCCGATCTGCTCCGGCCGTAGTAATCCGTGAAGAGGCCGTCAGGGTTGAGCAGGTAGATGGCAATGGAGTGGTCCACGATGTAGTCCTGGTCCTCATCCTTGGGGCCTGCATTGTAGTACACGCGGTAACTGTGACTAGCCTGGGCAACCTGTTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCG
AGCTCTTGGCCTGGCTGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTGGTCAGCTGTGATCTAGGACCCCGTGGTGGCCCTGATGGGAGGTGACAGTGCCCCTCACAGATGCTTTCTCTGGACAGGTGGCTGAGCAGTGGCTGCGGCCTGCAGAGGAGGACCACCTGGAGGATTCCCTGGAAGACCTGGGGGCAGCAGGTGGGTGCCTGCCAGGGGGTGGGGTGGGGCTTGGCACCTGCCGACTAGCTGCCTGCGTGCTGTTCACTCTCCCACCTCCCAGCAGATGACTTTCTAGAGCCTGAGGAGTACATGGAGCCCGAGGGAGCAGACCCCAGGGAAGCCGCTGACCTTGGTAGGTGGGCAGCGGGCTAGGAGTGCTGAGGGGCCACTGGAGCTGGGGGCAGGGGAGAGCGTGGCCCCTTAGCTGCCCAGCTCACAGCTACCCCTTCCCAGACGCAGTGCCGATGTCCCTGAGCTACGAGGAGCTGGTTCGAAGGAATGTGGTAGGCCTGGGTTAGAGGGAGACGGGGAGGGGAGGGGGACAGGTGAGCGGTGCCCAGGCCCCTGCTTGGGAGGCAGTAGCTCCTGCTGATCCTCCCCTAGGAGCTCTTCATCGCCACCTCCCAGAAGTTTGTCCAGGAGACAGAGCTGAGCCAGCGCATCAGGGACTGGGAGGACACAGTGCAGCCTCTGCTCCAGGAGCAGGTGAGGCGGGGCCGCTGGGAACCAGAGCTGTGTGCCACGGGTCTGTCCAGGGCCTTGCCTCTCTCCGCAGCCAACATGCCCCTCCCCTGTGCAGGAGCAGCATGTGCCCTTTGACATCCACACCTATGGGGACCAGCTGGTCTCACGGTTCCCCCAGCTCAATGAGTGGTGTCCCTTTGCGGAGCTGGTGGCTGGCCAGCCGGCCTTCGAGGTGTGTCGTTCCATGCTGGCCTCCCTGCAGCTGGTGAGTAGCCTGGGATACGTGGGAGGGGGAGACGGTCCCCAGACCCTGCTGATGTGCCACCCCTGCAGGCCAATGACTACACAGTGGAGATAACCCAGCAGCCCGGGCTGGAGATGGCCGTGGACACCATGTCCCTGAGACTGCTCACGCACCAGCGAGCGCACAAGCGCTTCCAGACCTACGCTGCCCCCTCCATGGCCCAGCCCTGAGTGGGGAGCACCGAGGCAGGGGTGGGGGAATGTGTACTGAGGAGCCGTGTGTCTGCTCCTGGCTGGCCCGGCCTAATAAAGCAGTGTTGCCATCTCATCTTCCCCCTAAAAACCCTTTTATGTACACCTGCGCAGAGAAGAGGGCTGCCTGGCCTCCCTGGGCCGCTGGTACAGATCACACACACACACAGATTAAACGCAGCCCGTTTAATGATGGGGCCCAGACTGCAGTGGCTCAAGACAGGACACTGCGGAAAGCCGCCATGTGCCGCCGCACACTGTCTGAGATCTGCTCAGCCGATCTGCTCCGGCCGTAGTAATCCGTGAAGAGGCCGTCAGGGTTGAGCAGGTAGATGGCAATGGAGTGGTCCACGATGTAGTCCTGGTCCTCATCCTTGGGGCCTGCATTGTAGTACACGCGGTAACTGTGACTAGCCTGGGCAACCTGTTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTTGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCG
Task1_train_28918
Here is a variant affecting NCAPH2, SCO2 (non-SMC condensin II complex subunit H2| synthesis of cytochrome C oxidase 2) on Chromosome 22. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Myopia 6
AGCTCTTGGCCTGGCTGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTGGTCAGCTGTGATCTAGGACCCCGTGGTGGCCCTGATGGGAGGTGACAGTGCCCCTCACAGATGCTTTCTCTGGACAGGTGGCTGAGCAGTGGCTGCGGCCTGCAGAGGAGGACCACCTGGAGGATTCCCTGGAAGACCTGGGGGCAGCAGGTGGGTGCCTGCCAGGGGGTGGGGTGGGGCTTGGCACCTGCCGACTAGCTGCCTGCGTGCTGTTCACTCTCCCACCTCCCAGCAGATGACTTTCTAGAGCCTGAGGAGTACATGGAGCCCGAGGGAGCAGACCCCAGGGAAGCCGCTGACCTTGGTAGGTGGGCAGCGGGCTAGGAGTGCTGAGGGGCCACTGGAGCTGGGGGCAGGGGAGAGCGTGGCCCCTTAGCTGCCCAGCTCACAGCTACCCCTTCCCAGACGCAGTGCCGATGTCCCTGAGCTACGAGGAGCTGGTTCGAAGGAATGTGGTAGGCCTGGGTTAGAGGGAGACGGGGAGGGGAGGGGGACAGGTGAGCGGTGCCCAGGCCCCTGCTTGGGAGGCAGTAGCTCCTGCTGATCCTCCCCTAGGAGCTCTTCATCGCCACCTCCCAGAAGTTTGTCCAGGAGACAGAGCTGAGCCAGCGCATCAGGGACTGGGAGGACACAGTGCAGCCTCTGCTCCAGGAGCAGGTGAGGCGGGGCCGCTGGGAACCAGAGCTGTGTGCCACGGGTCTGTCCAGGGCCTTGCCTCTCTCCGCAGCCAACATGCCCCTCCCCTGTGCAGGAGCAGCATGTGCCCTTTGACATCCACACCTATGGGGACCAGCTGGTCTCACGGTTCCCCCAGCTCAATGAGTGGTGTCCCTTTGCGGAGCTGGTGGCTGGCCAGCCGGCCTTCGAGGTGTGTCGTTCCATGCTGGCCTCCCTGCAGCTGGTGAGTAGCCTGGGATACGTGGGAGGGGGAGACGGTCCCCAGACCCTGCTGATGTGCCACCCCTGCAGGCCAATGACTACACAGTGGAGATAACCCAGCAGCCCGGGCTGGAGATGGCCGTGGACACCATGTCCCTGAGACTGCTCACGCACCAGCGAGCGCACAAGCGCTTCCAGACCTACGCTGCCCCCTCCATGGCCCAGCCCTGAGTGGGGAGCACCGAGGCAGGGGTGGGGGAATGTGTACTGAGGAGCCGTGTGTCTGCTCCTGGCTGGCCCGGCCTAATAAAGCAGTGTTGCCATCTCATCTTCCCCCTAAAAACCCTTTTATGTACACCTGCGCAGAGAAGAGGGCTGCCTGGCCTCCCTGGGCCGCTGGTACAGATCACACACACACACAGATTAAACGCAGCCCGTTTAATGATGGGGCCCAGACTGCAGTGGCTCAAGACAGGACACTGCGGAAAGCCGCCATGTGCCGCCGCACACTGTCTGAGATCTGCTCAGCCGATCTGCTCCGGCCGTAGTAATCCGTGAAGAGGCCGTCAGGGTTGAGCAGGTAGATGGCAATGGAGTGGTCCACGATGTAGTCCTGGTCCTCATCCTTGGGGCCTGCATTGTAGTACACGCGGTAACTGTGACTAGCCTGGGCAACCTGTTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCG
AGCTCTTGGCCTGGCTGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTGGTCAGCTGTGATCTAGGACCCCGTGGTGGCCCTGATGGGAGGTGACAGTGCCCCTCACAGATGCTTTCTCTGGACAGGTGGCTGAGCAGTGGCTGCGGCCTGCAGAGGAGGACCACCTGGAGGATTCCCTGGAAGACCTGGGGGCAGCAGGTGGGTGCCTGCCAGGGGGTGGGGTGGGGCTTGGCACCTGCCGACTAGCTGCCTGCGTGCTGTTCACTCTCCCACCTCCCAGCAGATGACTTTCTAGAGCCTGAGGAGTACATGGAGCCCGAGGGAGCAGACCCCAGGGAAGCCGCTGACCTTGGTAGGTGGGCAGCGGGCTAGGAGTGCTGAGGGGCCACTGGAGCTGGGGGCAGGGGAGAGCGTGGCCCCTTAGCTGCCCAGCTCACAGCTACCCCTTCCCAGACGCAGTGCCGATGTCCCTGAGCTACGAGGAGCTGGTTCGAAGGAATGTGGTAGGCCTGGGTTAGAGGGAGACGGGGAGGGGAGGGGGACAGGTGAGCGGTGCCCAGGCCCCTGCTTGGGAGGCAGTAGCTCCTGCTGATCCTCCCCTAGGAGCTCTTCATCGCCACCTCCCAGAAGTTTGTCCAGGAGACAGAGCTGAGCCAGCGCATCAGGGACTGGGAGGACACAGTGCAGCCTCTGCTCCAGGAGCAGGTGAGGCGGGGCCGCTGGGAACCAGAGCTGTGTGCCACGGGTCTGTCCAGGGCCTTGCCTCTCTCCGCAGCCAACATGCCCCTCCCCTGTGCAGGAGCAGCATGTGCCCTTTGACATCCACACCTATGGGGACCAGCTGGTCTCACGGTTCCCCCAGCTCAATGAGTGGTGTCCCTTTGCGGAGCTGGTGGCTGGCCAGCCGGCCTTCGAGGTGTGTCGTTCCATGCTGGCCTCCCTGCAGCTGGTGAGTAGCCTGGGATACGTGGGAGGGGGAGACGGTCCCCAGACCCTGCTGATGTGCCACCCCTGCAGGCCAATGACTACACAGTGGAGATAACCCAGCAGCCCGGGCTGGAGATGGCCGTGGACACCATGTCCCTGAGACTGCTCACGCACCAGCGAGCGCACAAGCGCTTCCAGACCTACGCTGCCCCCTCCATGGCCCAGCCCTGAGTGGGGAGCACCGAGGCAGGGGTGGGGGAATGTGTACTGAGGAGCCGTGTGTCTGCTCCTGGCTGGCCCGGCCTAATAAAGCAGTGTTGCCATCTCATCTTCCCCCTAAAAACCCTTTTATGTACACCTGCGCAGAGAAGAGGGCTGCCTGGCCTCCCTGGGCCGCTGGTACAGATCACACACACACACAGATTAAACGCAGCCCGTTTAATGATGGGGCCCAGACTGCAGTGGCTCAAGACAGGACACTGCGGAAAGCCGCCATGTGCCGCCGCACACTGTCTGAGATCTGCTCAGCCGATCTGCTCCGGCCGTAGTAATCCGTGAAGAGGCCGTCAGGGTTGAGCAGGTAGATGGCAATGGAGTGGTCCACGATGTAGTCCTGGTCCTCATCCTTGGGGCCTGCATTGTAGTACACGCGGTAACTGTGACTAGCCTGGGCAACCTGTTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTTGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCG
Task1_train_28919
This variant affects gene NCAPH2, SCO2 (non-SMC condensin II complex subunit H2| synthesis of cytochrome C oxidase 2) located on Chromosome 22. Evaluate its biological effect and specify any disease association.
Pathogenic; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
AGCTCTTGGCCTGGCTGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTGGTCAGCTGTGATCTAGGACCCCGTGGTGGCCCTGATGGGAGGTGACAGTGCCCCTCACAGATGCTTTCTCTGGACAGGTGGCTGAGCAGTGGCTGCGGCCTGCAGAGGAGGACCACCTGGAGGATTCCCTGGAAGACCTGGGGGCAGCAGGTGGGTGCCTGCCAGGGGGTGGGGTGGGGCTTGGCACCTGCCGACTAGCTGCCTGCGTGCTGTTCACTCTCCCACCTCCCAGCAGATGACTTTCTAGAGCCTGAGGAGTACATGGAGCCCGAGGGAGCAGACCCCAGGGAAGCCGCTGACCTTGGTAGGTGGGCAGCGGGCTAGGAGTGCTGAGGGGCCACTGGAGCTGGGGGCAGGGGAGAGCGTGGCCCCTTAGCTGCCCAGCTCACAGCTACCCCTTCCCAGACGCAGTGCCGATGTCCCTGAGCTACGAGGAGCTGGTTCGAAGGAATGTGGTAGGCCTGGGTTAGAGGGAGACGGGGAGGGGAGGGGGACAGGTGAGCGGTGCCCAGGCCCCTGCTTGGGAGGCAGTAGCTCCTGCTGATCCTCCCCTAGGAGCTCTTCATCGCCACCTCCCAGAAGTTTGTCCAGGAGACAGAGCTGAGCCAGCGCATCAGGGACTGGGAGGACACAGTGCAGCCTCTGCTCCAGGAGCAGGTGAGGCGGGGCCGCTGGGAACCAGAGCTGTGTGCCACGGGTCTGTCCAGGGCCTTGCCTCTCTCCGCAGCCAACATGCCCCTCCCCTGTGCAGGAGCAGCATGTGCCCTTTGACATCCACACCTATGGGGACCAGCTGGTCTCACGGTTCCCCCAGCTCAATGAGTGGTGTCCCTTTGCGGAGCTGGTGGCTGGCCAGCCGGCCTTCGAGGTGTGTCGTTCCATGCTGGCCTCCCTGCAGCTGGTGAGTAGCCTGGGATACGTGGGAGGGGGAGACGGTCCCCAGACCCTGCTGATGTGCCACCCCTGCAGGCCAATGACTACACAGTGGAGATAACCCAGCAGCCCGGGCTGGAGATGGCCGTGGACACCATGTCCCTGAGACTGCTCACGCACCAGCGAGCGCACAAGCGCTTCCAGACCTACGCTGCCCCCTCCATGGCCCAGCCCTGAGTGGGGAGCACCGAGGCAGGGGTGGGGGAATGTGTACTGAGGAGCCGTGTGTCTGCTCCTGGCTGGCCCGGCCTAATAAAGCAGTGTTGCCATCTCATCTTCCCCCTAAAAACCCTTTTATGTACACCTGCGCAGAGAAGAGGGCTGCCTGGCCTCCCTGGGCCGCTGGTACAGATCACACACACACACAGATTAAACGCAGCCCGTTTAATGATGGGGCCCAGACTGCAGTGGCTCAAGACAGGACACTGCGGAAAGCCGCCATGTGCCGCCGCACACTGTCTGAGATCTGCTCAGCCGATCTGCTCCGGCCGTAGTAATCCGTGAAGAGGCCGTCAGGGTTGAGCAGGTAGATGGCAATGGAGTGGTCCACGATGTAGTCCTGGTCCTCATCCTTGGGGCCTGCATTGTAGTACACGCGGTAACTGTGACTAGCCTGGGCAACCTGTTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCG
AGCTCTTGGCCTGGCTGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTGGTCAGCTGTGATCTAGGACCCCGTGGTGGCCCTGATGGGAGGTGACAGTGCCCCTCACAGATGCTTTCTCTGGACAGGTGGCTGAGCAGTGGCTGCGGCCTGCAGAGGAGGACCACCTGGAGGATTCCCTGGAAGACCTGGGGGCAGCAGGTGGGTGCCTGCCAGGGGGTGGGGTGGGGCTTGGCACCTGCCGACTAGCTGCCTGCGTGCTGTTCACTCTCCCACCTCCCAGCAGATGACTTTCTAGAGCCTGAGGAGTACATGGAGCCCGAGGGAGCAGACCCCAGGGAAGCCGCTGACCTTGGTAGGTGGGCAGCGGGCTAGGAGTGCTGAGGGGCCACTGGAGCTGGGGGCAGGGGAGAGCGTGGCCCCTTAGCTGCCCAGCTCACAGCTACCCCTTCCCAGACGCAGTGCCGATGTCCCTGAGCTACGAGGAGCTGGTTCGAAGGAATGTGGTAGGCCTGGGTTAGAGGGAGACGGGGAGGGGAGGGGGACAGGTGAGCGGTGCCCAGGCCCCTGCTTGGGAGGCAGTAGCTCCTGCTGATCCTCCCCTAGGAGCTCTTCATCGCCACCTCCCAGAAGTTTGTCCAGGAGACAGAGCTGAGCCAGCGCATCAGGGACTGGGAGGACACAGTGCAGCCTCTGCTCCAGGAGCAGGTGAGGCGGGGCCGCTGGGAACCAGAGCTGTGTGCCACGGGTCTGTCCAGGGCCTTGCCTCTCTCCGCAGCCAACATGCCCCTCCCCTGTGCAGGAGCAGCATGTGCCCTTTGACATCCACACCTATGGGGACCAGCTGGTCTCACGGTTCCCCCAGCTCAATGAGTGGTGTCCCTTTGCGGAGCTGGTGGCTGGCCAGCCGGCCTTCGAGGTGTGTCGTTCCATGCTGGCCTCCCTGCAGCTGGTGAGTAGCCTGGGATACGTGGGAGGGGGAGACGGTCCCCAGACCCTGCTGATGTGCCACCCCTGCAGGCCAATGACTACACAGTGGAGATAACCCAGCAGCCCGGGCTGGAGATGGCCGTGGACACCATGTCCCTGAGACTGCTCACGCACCAGCGAGCGCACAAGCGCTTCCAGACCTACGCTGCCCCCTCCATGGCCCAGCCCTGAGTGGGGAGCACCGAGGCAGGGGTGGGGGAATGTGTACTGAGGAGCCGTGTGTCTGCTCCTGGCTGGCCCGGCCTAATAAAGCAGTGTTGCCATCTCATCTTCCCCCTAAAAACCCTTTTATGTACACCTGCGCAGAGAAGAGGGCTGCCTGGCCTCCCTGGGCCGCTGGTACAGATCACACACACACACAGATTAAACGCAGCCCGTTTAATGATGGGGCCCAGACTGCAGTGGCTCAAGACAGGACACTGCGGAAAGCCGCCATGTGCCGCCGCACACTGTCTGAGATCTGCTCAGCCGATCTGCTCCGGCCGTAGTAATCCGTGAAGAGGCCGTCAGGGTTGAGCAGGTAGATGGCAATGGAGTGGTCCACGATGTAGTCCTGGTCCTCATCCTTGGGGCCTGCATTGTAGTACACGCGGTAACTGTGACTAGCCTGGGCAACCTGTTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTTGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCG
Task1_train_28920
This variant lies on Chromosome 22 and affects the gene NCAPH2, SCO2 (non-SMC condensin II complex subunit H2| synthesis of cytochrome C oxidase 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Tip-toe gait
AGCTCTTGGCCTGGCTGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTGGTCAGCTGTGATCTAGGACCCCGTGGTGGCCCTGATGGGAGGTGACAGTGCCCCTCACAGATGCTTTCTCTGGACAGGTGGCTGAGCAGTGGCTGCGGCCTGCAGAGGAGGACCACCTGGAGGATTCCCTGGAAGACCTGGGGGCAGCAGGTGGGTGCCTGCCAGGGGGTGGGGTGGGGCTTGGCACCTGCCGACTAGCTGCCTGCGTGCTGTTCACTCTCCCACCTCCCAGCAGATGACTTTCTAGAGCCTGAGGAGTACATGGAGCCCGAGGGAGCAGACCCCAGGGAAGCCGCTGACCTTGGTAGGTGGGCAGCGGGCTAGGAGTGCTGAGGGGCCACTGGAGCTGGGGGCAGGGGAGAGCGTGGCCCCTTAGCTGCCCAGCTCACAGCTACCCCTTCCCAGACGCAGTGCCGATGTCCCTGAGCTACGAGGAGCTGGTTCGAAGGAATGTGGTAGGCCTGGGTTAGAGGGAGACGGGGAGGGGAGGGGGACAGGTGAGCGGTGCCCAGGCCCCTGCTTGGGAGGCAGTAGCTCCTGCTGATCCTCCCCTAGGAGCTCTTCATCGCCACCTCCCAGAAGTTTGTCCAGGAGACAGAGCTGAGCCAGCGCATCAGGGACTGGGAGGACACAGTGCAGCCTCTGCTCCAGGAGCAGGTGAGGCGGGGCCGCTGGGAACCAGAGCTGTGTGCCACGGGTCTGTCCAGGGCCTTGCCTCTCTCCGCAGCCAACATGCCCCTCCCCTGTGCAGGAGCAGCATGTGCCCTTTGACATCCACACCTATGGGGACCAGCTGGTCTCACGGTTCCCCCAGCTCAATGAGTGGTGTCCCTTTGCGGAGCTGGTGGCTGGCCAGCCGGCCTTCGAGGTGTGTCGTTCCATGCTGGCCTCCCTGCAGCTGGTGAGTAGCCTGGGATACGTGGGAGGGGGAGACGGTCCCCAGACCCTGCTGATGTGCCACCCCTGCAGGCCAATGACTACACAGTGGAGATAACCCAGCAGCCCGGGCTGGAGATGGCCGTGGACACCATGTCCCTGAGACTGCTCACGCACCAGCGAGCGCACAAGCGCTTCCAGACCTACGCTGCCCCCTCCATGGCCCAGCCCTGAGTGGGGAGCACCGAGGCAGGGGTGGGGGAATGTGTACTGAGGAGCCGTGTGTCTGCTCCTGGCTGGCCCGGCCTAATAAAGCAGTGTTGCCATCTCATCTTCCCCCTAAAAACCCTTTTATGTACACCTGCGCAGAGAAGAGGGCTGCCTGGCCTCCCTGGGCCGCTGGTACAGATCACACACACACACAGATTAAACGCAGCCCGTTTAATGATGGGGCCCAGACTGCAGTGGCTCAAGACAGGACACTGCGGAAAGCCGCCATGTGCCGCCGCACACTGTCTGAGATCTGCTCAGCCGATCTGCTCCGGCCGTAGTAATCCGTGAAGAGGCCGTCAGGGTTGAGCAGGTAGATGGCAATGGAGTGGTCCACGATGTAGTCCTGGTCCTCATCCTTGGGGCCTGCATTGTAGTACACGCGGTAACTGTGACTAGCCTGGGCAACCTGTTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCG
AGCTCTTGGCCTGGCTGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTGGTCAGCTGTGATCTAGGACCCCGTGGTGGCCCTGATGGGAGGTGACAGTGCCCCTCACAGATGCTTTCTCTGGACAGGTGGCTGAGCAGTGGCTGCGGCCTGCAGAGGAGGACCACCTGGAGGATTCCCTGGAAGACCTGGGGGCAGCAGGTGGGTGCCTGCCAGGGGGTGGGGTGGGGCTTGGCACCTGCCGACTAGCTGCCTGCGTGCTGTTCACTCTCCCACCTCCCAGCAGATGACTTTCTAGAGCCTGAGGAGTACATGGAGCCCGAGGGAGCAGACCCCAGGGAAGCCGCTGACCTTGGTAGGTGGGCAGCGGGCTAGGAGTGCTGAGGGGCCACTGGAGCTGGGGGCAGGGGAGAGCGTGGCCCCTTAGCTGCCCAGCTCACAGCTACCCCTTCCCAGACGCAGTGCCGATGTCCCTGAGCTACGAGGAGCTGGTTCGAAGGAATGTGGTAGGCCTGGGTTAGAGGGAGACGGGGAGGGGAGGGGGACAGGTGAGCGGTGCCCAGGCCCCTGCTTGGGAGGCAGTAGCTCCTGCTGATCCTCCCCTAGGAGCTCTTCATCGCCACCTCCCAGAAGTTTGTCCAGGAGACAGAGCTGAGCCAGCGCATCAGGGACTGGGAGGACACAGTGCAGCCTCTGCTCCAGGAGCAGGTGAGGCGGGGCCGCTGGGAACCAGAGCTGTGTGCCACGGGTCTGTCCAGGGCCTTGCCTCTCTCCGCAGCCAACATGCCCCTCCCCTGTGCAGGAGCAGCATGTGCCCTTTGACATCCACACCTATGGGGACCAGCTGGTCTCACGGTTCCCCCAGCTCAATGAGTGGTGTCCCTTTGCGGAGCTGGTGGCTGGCCAGCCGGCCTTCGAGGTGTGTCGTTCCATGCTGGCCTCCCTGCAGCTGGTGAGTAGCCTGGGATACGTGGGAGGGGGAGACGGTCCCCAGACCCTGCTGATGTGCCACCCCTGCAGGCCAATGACTACACAGTGGAGATAACCCAGCAGCCCGGGCTGGAGATGGCCGTGGACACCATGTCCCTGAGACTGCTCACGCACCAGCGAGCGCACAAGCGCTTCCAGACCTACGCTGCCCCCTCCATGGCCCAGCCCTGAGTGGGGAGCACCGAGGCAGGGGTGGGGGAATGTGTACTGAGGAGCCGTGTGTCTGCTCCTGGCTGGCCCGGCCTAATAAAGCAGTGTTGCCATCTCATCTTCCCCCTAAAAACCCTTTTATGTACACCTGCGCAGAGAAGAGGGCTGCCTGGCCTCCCTGGGCCGCTGGTACAGATCACACACACACACAGATTAAACGCAGCCCGTTTAATGATGGGGCCCAGACTGCAGTGGCTCAAGACAGGACACTGCGGAAAGCCGCCATGTGCCGCCGCACACTGTCTGAGATCTGCTCAGCCGATCTGCTCCGGCCGTAGTAATCCGTGAAGAGGCCGTCAGGGTTGAGCAGGTAGATGGCAATGGAGTGGTCCACGATGTAGTCCTGGTCCTCATCCTTGGGGCCTGCATTGTAGTACACGCGGTAACTGTGACTAGCCTGGGCAACCTGTTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTTGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCG
Task1_train_28921
A genetic alteration is present in NCAPH2, SCO2 (non-SMC condensin II complex subunit H2| synthesis of cytochrome C oxidase 2) on Chromosome 22. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Severe global developmental delay
AGCTCTTGGCCTGGCTGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTGGTCAGCTGTGATCTAGGACCCCGTGGTGGCCCTGATGGGAGGTGACAGTGCCCCTCACAGATGCTTTCTCTGGACAGGTGGCTGAGCAGTGGCTGCGGCCTGCAGAGGAGGACCACCTGGAGGATTCCCTGGAAGACCTGGGGGCAGCAGGTGGGTGCCTGCCAGGGGGTGGGGTGGGGCTTGGCACCTGCCGACTAGCTGCCTGCGTGCTGTTCACTCTCCCACCTCCCAGCAGATGACTTTCTAGAGCCTGAGGAGTACATGGAGCCCGAGGGAGCAGACCCCAGGGAAGCCGCTGACCTTGGTAGGTGGGCAGCGGGCTAGGAGTGCTGAGGGGCCACTGGAGCTGGGGGCAGGGGAGAGCGTGGCCCCTTAGCTGCCCAGCTCACAGCTACCCCTTCCCAGACGCAGTGCCGATGTCCCTGAGCTACGAGGAGCTGGTTCGAAGGAATGTGGTAGGCCTGGGTTAGAGGGAGACGGGGAGGGGAGGGGGACAGGTGAGCGGTGCCCAGGCCCCTGCTTGGGAGGCAGTAGCTCCTGCTGATCCTCCCCTAGGAGCTCTTCATCGCCACCTCCCAGAAGTTTGTCCAGGAGACAGAGCTGAGCCAGCGCATCAGGGACTGGGAGGACACAGTGCAGCCTCTGCTCCAGGAGCAGGTGAGGCGGGGCCGCTGGGAACCAGAGCTGTGTGCCACGGGTCTGTCCAGGGCCTTGCCTCTCTCCGCAGCCAACATGCCCCTCCCCTGTGCAGGAGCAGCATGTGCCCTTTGACATCCACACCTATGGGGACCAGCTGGTCTCACGGTTCCCCCAGCTCAATGAGTGGTGTCCCTTTGCGGAGCTGGTGGCTGGCCAGCCGGCCTTCGAGGTGTGTCGTTCCATGCTGGCCTCCCTGCAGCTGGTGAGTAGCCTGGGATACGTGGGAGGGGGAGACGGTCCCCAGACCCTGCTGATGTGCCACCCCTGCAGGCCAATGACTACACAGTGGAGATAACCCAGCAGCCCGGGCTGGAGATGGCCGTGGACACCATGTCCCTGAGACTGCTCACGCACCAGCGAGCGCACAAGCGCTTCCAGACCTACGCTGCCCCCTCCATGGCCCAGCCCTGAGTGGGGAGCACCGAGGCAGGGGTGGGGGAATGTGTACTGAGGAGCCGTGTGTCTGCTCCTGGCTGGCCCGGCCTAATAAAGCAGTGTTGCCATCTCATCTTCCCCCTAAAAACCCTTTTATGTACACCTGCGCAGAGAAGAGGGCTGCCTGGCCTCCCTGGGCCGCTGGTACAGATCACACACACACACAGATTAAACGCAGCCCGTTTAATGATGGGGCCCAGACTGCAGTGGCTCAAGACAGGACACTGCGGAAAGCCGCCATGTGCCGCCGCACACTGTCTGAGATCTGCTCAGCCGATCTGCTCCGGCCGTAGTAATCCGTGAAGAGGCCGTCAGGGTTGAGCAGGTAGATGGCAATGGAGTGGTCCACGATGTAGTCCTGGTCCTCATCCTTGGGGCCTGCATTGTAGTACACGCGGTAACTGTGACTAGCCTGGGCAACCTGTTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCG
AGCTCTTGGCCTGGCTGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTGGTCAGCTGTGATCTAGGACCCCGTGGTGGCCCTGATGGGAGGTGACAGTGCCCCTCACAGATGCTTTCTCTGGACAGGTGGCTGAGCAGTGGCTGCGGCCTGCAGAGGAGGACCACCTGGAGGATTCCCTGGAAGACCTGGGGGCAGCAGGTGGGTGCCTGCCAGGGGGTGGGGTGGGGCTTGGCACCTGCCGACTAGCTGCCTGCGTGCTGTTCACTCTCCCACCTCCCAGCAGATGACTTTCTAGAGCCTGAGGAGTACATGGAGCCCGAGGGAGCAGACCCCAGGGAAGCCGCTGACCTTGGTAGGTGGGCAGCGGGCTAGGAGTGCTGAGGGGCCACTGGAGCTGGGGGCAGGGGAGAGCGTGGCCCCTTAGCTGCCCAGCTCACAGCTACCCCTTCCCAGACGCAGTGCCGATGTCCCTGAGCTACGAGGAGCTGGTTCGAAGGAATGTGGTAGGCCTGGGTTAGAGGGAGACGGGGAGGGGAGGGGGACAGGTGAGCGGTGCCCAGGCCCCTGCTTGGGAGGCAGTAGCTCCTGCTGATCCTCCCCTAGGAGCTCTTCATCGCCACCTCCCAGAAGTTTGTCCAGGAGACAGAGCTGAGCCAGCGCATCAGGGACTGGGAGGACACAGTGCAGCCTCTGCTCCAGGAGCAGGTGAGGCGGGGCCGCTGGGAACCAGAGCTGTGTGCCACGGGTCTGTCCAGGGCCTTGCCTCTCTCCGCAGCCAACATGCCCCTCCCCTGTGCAGGAGCAGCATGTGCCCTTTGACATCCACACCTATGGGGACCAGCTGGTCTCACGGTTCCCCCAGCTCAATGAGTGGTGTCCCTTTGCGGAGCTGGTGGCTGGCCAGCCGGCCTTCGAGGTGTGTCGTTCCATGCTGGCCTCCCTGCAGCTGGTGAGTAGCCTGGGATACGTGGGAGGGGGAGACGGTCCCCAGACCCTGCTGATGTGCCACCCCTGCAGGCCAATGACTACACAGTGGAGATAACCCAGCAGCCCGGGCTGGAGATGGCCGTGGACACCATGTCCCTGAGACTGCTCACGCACCAGCGAGCGCACAAGCGCTTCCAGACCTACGCTGCCCCCTCCATGGCCCAGCCCTGAGTGGGGAGCACCGAGGCAGGGGTGGGGGAATGTGTACTGAGGAGCCGTGTGTCTGCTCCTGGCTGGCCCGGCCTAATAAAGCAGTGTTGCCATCTCATCTTCCCCCTAAAAACCCTTTTATGTACACCTGCGCAGAGAAGAGGGCTGCCTGGCCTCCCTGGGCCGCTGGTACAGATCACACACACACACAGATTAAACGCAGCCCGTTTAATGATGGGGCCCAGACTGCAGTGGCTCAAGACAGGACACTGCGGAAAGCCGCCATGTGCCGCCGCACACTGTCTGAGATCTGCTCAGCCGATCTGCTCCGGCCGTAGTAATCCGTGAAGAGGCCGTCAGGGTTGAGCAGGTAGATGGCAATGGAGTGGTCCACGATGTAGTCCTGGTCCTCATCCTTGGGGCCTGCATTGTAGTACACGCGGTAACTGTGACTAGCCTGGGCAACCTGTTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTTGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCG
Task1_train_28922
Here is a variant affecting NCAPH2, SCO2 (non-SMC condensin II complex subunit H2| synthesis of cytochrome C oxidase 2) on Chromosome 22. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Seizure
AGCTCTTGGCCTGGCTGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTGGTCAGCTGTGATCTAGGACCCCGTGGTGGCCCTGATGGGAGGTGACAGTGCCCCTCACAGATGCTTTCTCTGGACAGGTGGCTGAGCAGTGGCTGCGGCCTGCAGAGGAGGACCACCTGGAGGATTCCCTGGAAGACCTGGGGGCAGCAGGTGGGTGCCTGCCAGGGGGTGGGGTGGGGCTTGGCACCTGCCGACTAGCTGCCTGCGTGCTGTTCACTCTCCCACCTCCCAGCAGATGACTTTCTAGAGCCTGAGGAGTACATGGAGCCCGAGGGAGCAGACCCCAGGGAAGCCGCTGACCTTGGTAGGTGGGCAGCGGGCTAGGAGTGCTGAGGGGCCACTGGAGCTGGGGGCAGGGGAGAGCGTGGCCCCTTAGCTGCCCAGCTCACAGCTACCCCTTCCCAGACGCAGTGCCGATGTCCCTGAGCTACGAGGAGCTGGTTCGAAGGAATGTGGTAGGCCTGGGTTAGAGGGAGACGGGGAGGGGAGGGGGACAGGTGAGCGGTGCCCAGGCCCCTGCTTGGGAGGCAGTAGCTCCTGCTGATCCTCCCCTAGGAGCTCTTCATCGCCACCTCCCAGAAGTTTGTCCAGGAGACAGAGCTGAGCCAGCGCATCAGGGACTGGGAGGACACAGTGCAGCCTCTGCTCCAGGAGCAGGTGAGGCGGGGCCGCTGGGAACCAGAGCTGTGTGCCACGGGTCTGTCCAGGGCCTTGCCTCTCTCCGCAGCCAACATGCCCCTCCCCTGTGCAGGAGCAGCATGTGCCCTTTGACATCCACACCTATGGGGACCAGCTGGTCTCACGGTTCCCCCAGCTCAATGAGTGGTGTCCCTTTGCGGAGCTGGTGGCTGGCCAGCCGGCCTTCGAGGTGTGTCGTTCCATGCTGGCCTCCCTGCAGCTGGTGAGTAGCCTGGGATACGTGGGAGGGGGAGACGGTCCCCAGACCCTGCTGATGTGCCACCCCTGCAGGCCAATGACTACACAGTGGAGATAACCCAGCAGCCCGGGCTGGAGATGGCCGTGGACACCATGTCCCTGAGACTGCTCACGCACCAGCGAGCGCACAAGCGCTTCCAGACCTACGCTGCCCCCTCCATGGCCCAGCCCTGAGTGGGGAGCACCGAGGCAGGGGTGGGGGAATGTGTACTGAGGAGCCGTGTGTCTGCTCCTGGCTGGCCCGGCCTAATAAAGCAGTGTTGCCATCTCATCTTCCCCCTAAAAACCCTTTTATGTACACCTGCGCAGAGAAGAGGGCTGCCTGGCCTCCCTGGGCCGCTGGTACAGATCACACACACACACAGATTAAACGCAGCCCGTTTAATGATGGGGCCCAGACTGCAGTGGCTCAAGACAGGACACTGCGGAAAGCCGCCATGTGCCGCCGCACACTGTCTGAGATCTGCTCAGCCGATCTGCTCCGGCCGTAGTAATCCGTGAAGAGGCCGTCAGGGTTGAGCAGGTAGATGGCAATGGAGTGGTCCACGATGTAGTCCTGGTCCTCATCCTTGGGGCCTGCATTGTAGTACACGCGGTAACTGTGACTAGCCTGGGCAACCTGTTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCG
AGCTCTTGGCCTGGCTGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTGGTCAGCTGTGATCTAGGACCCCGTGGTGGCCCTGATGGGAGGTGACAGTGCCCCTCACAGATGCTTTCTCTGGACAGGTGGCTGAGCAGTGGCTGCGGCCTGCAGAGGAGGACCACCTGGAGGATTCCCTGGAAGACCTGGGGGCAGCAGGTGGGTGCCTGCCAGGGGGTGGGGTGGGGCTTGGCACCTGCCGACTAGCTGCCTGCGTGCTGTTCACTCTCCCACCTCCCAGCAGATGACTTTCTAGAGCCTGAGGAGTACATGGAGCCCGAGGGAGCAGACCCCAGGGAAGCCGCTGACCTTGGTAGGTGGGCAGCGGGCTAGGAGTGCTGAGGGGCCACTGGAGCTGGGGGCAGGGGAGAGCGTGGCCCCTTAGCTGCCCAGCTCACAGCTACCCCTTCCCAGACGCAGTGCCGATGTCCCTGAGCTACGAGGAGCTGGTTCGAAGGAATGTGGTAGGCCTGGGTTAGAGGGAGACGGGGAGGGGAGGGGGACAGGTGAGCGGTGCCCAGGCCCCTGCTTGGGAGGCAGTAGCTCCTGCTGATCCTCCCCTAGGAGCTCTTCATCGCCACCTCCCAGAAGTTTGTCCAGGAGACAGAGCTGAGCCAGCGCATCAGGGACTGGGAGGACACAGTGCAGCCTCTGCTCCAGGAGCAGGTGAGGCGGGGCCGCTGGGAACCAGAGCTGTGTGCCACGGGTCTGTCCAGGGCCTTGCCTCTCTCCGCAGCCAACATGCCCCTCCCCTGTGCAGGAGCAGCATGTGCCCTTTGACATCCACACCTATGGGGACCAGCTGGTCTCACGGTTCCCCCAGCTCAATGAGTGGTGTCCCTTTGCGGAGCTGGTGGCTGGCCAGCCGGCCTTCGAGGTGTGTCGTTCCATGCTGGCCTCCCTGCAGCTGGTGAGTAGCCTGGGATACGTGGGAGGGGGAGACGGTCCCCAGACCCTGCTGATGTGCCACCCCTGCAGGCCAATGACTACACAGTGGAGATAACCCAGCAGCCCGGGCTGGAGATGGCCGTGGACACCATGTCCCTGAGACTGCTCACGCACCAGCGAGCGCACAAGCGCTTCCAGACCTACGCTGCCCCCTCCATGGCCCAGCCCTGAGTGGGGAGCACCGAGGCAGGGGTGGGGGAATGTGTACTGAGGAGCCGTGTGTCTGCTCCTGGCTGGCCCGGCCTAATAAAGCAGTGTTGCCATCTCATCTTCCCCCTAAAAACCCTTTTATGTACACCTGCGCAGAGAAGAGGGCTGCCTGGCCTCCCTGGGCCGCTGGTACAGATCACACACACACACAGATTAAACGCAGCCCGTTTAATGATGGGGCCCAGACTGCAGTGGCTCAAGACAGGACACTGCGGAAAGCCGCCATGTGCCGCCGCACACTGTCTGAGATCTGCTCAGCCGATCTGCTCCGGCCGTAGTAATCCGTGAAGAGGCCGTCAGGGTTGAGCAGGTAGATGGCAATGGAGTGGTCCACGATGTAGTCCTGGTCCTCATCCTTGGGGCCTGCATTGTAGTACACGCGGTAACTGTGACTAGCCTGGGCAACCTGTTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTTGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCG
Task1_train_28923
A change on Chromosome 22 affects gene NCAPH2, SCO2 (non-SMC condensin II complex subunit H2| synthesis of cytochrome C oxidase 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
CTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTGGTCAGCTGTGATCTAGGACCCCGTGGTGGCCCTGATGGGAGGTGACAGTGCCCCTCACAGATGCTTTCTCTGGACAGGTGGCTGAGCAGTGGCTGCGGCCTGCAGAGGAGGACCACCTGGAGGATTCCCTGGAAGACCTGGGGGCAGCAGGTGGGTGCCTGCCAGGGGGTGGGGTGGGGCTTGGCACCTGCCGACTAGCTGCCTGCGTGCTGTTCACTCTCCCACCTCCCAGCAGATGACTTTCTAGAGCCTGAGGAGTACATGGAGCCCGAGGGAGCAGACCCCAGGGAAGCCGCTGACCTTGGTAGGTGGGCAGCGGGCTAGGAGTGCTGAGGGGCCACTGGAGCTGGGGGCAGGGGAGAGCGTGGCCCCTTAGCTGCCCAGCTCACAGCTACCCCTTCCCAGACGCAGTGCCGATGTCCCTGAGCTACGAGGAGCTGGTTCGAAGGAATGTGGTAGGCCTGGGTTAGAGGGAGACGGGGAGGGGAGGGGGACAGGTGAGCGGTGCCCAGGCCCCTGCTTGGGAGGCAGTAGCTCCTGCTGATCCTCCCCTAGGAGCTCTTCATCGCCACCTCCCAGAAGTTTGTCCAGGAGACAGAGCTGAGCCAGCGCATCAGGGACTGGGAGGACACAGTGCAGCCTCTGCTCCAGGAGCAGGTGAGGCGGGGCCGCTGGGAACCAGAGCTGTGTGCCACGGGTCTGTCCAGGGCCTTGCCTCTCTCCGCAGCCAACATGCCCCTCCCCTGTGCAGGAGCAGCATGTGCCCTTTGACATCCACACCTATGGGGACCAGCTGGTCTCACGGTTCCCCCAGCTCAATGAGTGGTGTCCCTTTGCGGAGCTGGTGGCTGGCCAGCCGGCCTTCGAGGTGTGTCGTTCCATGCTGGCCTCCCTGCAGCTGGTGAGTAGCCTGGGATACGTGGGAGGGGGAGACGGTCCCCAGACCCTGCTGATGTGCCACCCCTGCAGGCCAATGACTACACAGTGGAGATAACCCAGCAGCCCGGGCTGGAGATGGCCGTGGACACCATGTCCCTGAGACTGCTCACGCACCAGCGAGCGCACAAGCGCTTCCAGACCTACGCTGCCCCCTCCATGGCCCAGCCCTGAGTGGGGAGCACCGAGGCAGGGGTGGGGGAATGTGTACTGAGGAGCCGTGTGTCTGCTCCTGGCTGGCCCGGCCTAATAAAGCAGTGTTGCCATCTCATCTTCCCCCTAAAAACCCTTTTATGTACACCTGCGCAGAGAAGAGGGCTGCCTGGCCTCCCTGGGCCGCTGGTACAGATCACACACACACACAGATTAAACGCAGCCCGTTTAATGATGGGGCCCAGACTGCAGTGGCTCAAGACAGGACACTGCGGAAAGCCGCCATGTGCCGCCGCACACTGTCTGAGATCTGCTCAGCCGATCTGCTCCGGCCGTAGTAATCCGTGAAGAGGCCGTCAGGGTTGAGCAGGTAGATGGCAATGGAGTGGTCCACGATGTAGTCCTGGTCCTCATCCTTGGGGCCTGCATTGTAGTACACGCGGTAACTGTGACTAGCCTGGGCAACCTGTTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGG
CTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTGGTCAGCTGTGATCTAGGACCCCGTGGTGGCCCTGATGGGAGGTGACAGTGCCCCTCACAGATGCTTTCTCTGGACAGGTGGCTGAGCAGTGGCTGCGGCCTGCAGAGGAGGACCACCTGGAGGATTCCCTGGAAGACCTGGGGGCAGCAGGTGGGTGCCTGCCAGGGGGTGGGGTGGGGCTTGGCACCTGCCGACTAGCTGCCTGCGTGCTGTTCACTCTCCCACCTCCCAGCAGATGACTTTCTAGAGCCTGAGGAGTACATGGAGCCCGAGGGAGCAGACCCCAGGGAAGCCGCTGACCTTGGTAGGTGGGCAGCGGGCTAGGAGTGCTGAGGGGCCACTGGAGCTGGGGGCAGGGGAGAGCGTGGCCCCTTAGCTGCCCAGCTCACAGCTACCCCTTCCCAGACGCAGTGCCGATGTCCCTGAGCTACGAGGAGCTGGTTCGAAGGAATGTGGTAGGCCTGGGTTAGAGGGAGACGGGGAGGGGAGGGGGACAGGTGAGCGGTGCCCAGGCCCCTGCTTGGGAGGCAGTAGCTCCTGCTGATCCTCCCCTAGGAGCTCTTCATCGCCACCTCCCAGAAGTTTGTCCAGGAGACAGAGCTGAGCCAGCGCATCAGGGACTGGGAGGACACAGTGCAGCCTCTGCTCCAGGAGCAGGTGAGGCGGGGCCGCTGGGAACCAGAGCTGTGTGCCACGGGTCTGTCCAGGGCCTTGCCTCTCTCCGCAGCCAACATGCCCCTCCCCTGTGCAGGAGCAGCATGTGCCCTTTGACATCCACACCTATGGGGACCAGCTGGTCTCACGGTTCCCCCAGCTCAATGAGTGGTGTCCCTTTGCGGAGCTGGTGGCTGGCCAGCCGGCCTTCGAGGTGTGTCGTTCCATGCTGGCCTCCCTGCAGCTGGTGAGTAGCCTGGGATACGTGGGAGGGGGAGACGGTCCCCAGACCCTGCTGATGTGCCACCCCTGCAGGCCAATGACTACACAGTGGAGATAACCCAGCAGCCCGGGCTGGAGATGGCCGTGGACACCATGTCCCTGAGACTGCTCACGCACCAGCGAGCGCACAAGCGCTTCCAGACCTACGCTGCCCCCTCCATGGCCCAGCCCTGAGTGGGGAGCACCGAGGCAGGGGTGGGGGAATGTGTACTGAGGAGCCGTGTGTCTGCTCCTGGCTGGCCCGGCCTAATAAAGCAGTGTTGCCATCTCATCTTCCCCCTAAAAACCCTTTTATGTACACCTGCGCAGAGAAGAGGGCTGCCTGGCCTCCCTGGGCCGCTGGTACAGATCACACACACACACAGATTAAACGCAGCCCGTTTAATGATGGGGCCCAGACTGCAGTGGCTCAAGACAGGACACTGCGGAAAGCCGCCATGTGCCGCCGCACACTGTCTGAGATCTGCTCAGCCGATCTGCTCCGGCCGTAGTAATCCGTGAAGAGGCCGTCAGGGTTGAGCAGGTAGATGGCAATGGAGTGGTCCACGATGTAGTCCTGGTCCTCATCCTTGGGGCCTGCATTGTAGTACACGCGGTAACTGTGACTAGCCTGGGCAACCTGTTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGTAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGG
Task1_train_28924
Chromosome 22 houses a mutation in gene LOC130067862, SCO2, TYMP (ATAC-STARR-seq lymphoblastoid silent region 13986| synthesis of cytochrome C oxidase 2| thymidine phosphorylase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Mitochondrial DNA depletion syndrome 1
CCTGGGCAACCTGTTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGC
CCTGGGCAACCTGTTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGGGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGC
Task1_train_28925
This mutation is located in gene LOC130067862, SCO2, TYMP (ATAC-STARR-seq lymphoblastoid silent region 13986| synthesis of cytochrome C oxidase 2| thymidine phosphorylase) on Chromosome 22. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Mitochondrial DNA depletion syndrome 1
CAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAG
CAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCGTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAG
Task1_train_28926
The gene LOC130067862, SCO2, TYMP (ATAC-STARR-seq lymphoblastoid silent region 13986| synthesis of cytochrome C oxidase 2| thymidine phosphorylase) on Chromosome 22 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Mitochondrial neurogastrointestinal encephalomyopathy
CAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAG
CAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCTTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAG
Task1_train_28927
The gene LOC130067862, SCO2, TYMP (ATAC-STARR-seq lymphoblastoid silent region 13986| synthesis of cytochrome C oxidase 2| thymidine phosphorylase) on Chromosome 22 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Mitochondrial DNA depletion syndrome 1
CAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAG
CAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCTTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAG
Task1_train_28928
With a mutation on Chromosome 22 in gene LOC130067862, SCO2, TYMP (ATAC-STARR-seq lymphoblastoid silent region 13986| synthesis of cytochrome C oxidase 2| thymidine phosphorylase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Mitochondrial DNA depletion syndrome 1
CGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCAC
CGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACTATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCAC
Task1_train_28929
Given a variant located on Chromosome 22 and affecting LOC130067862, SCO2, TYMP (ATAC-STARR-seq lymphoblastoid silent region 13986| synthesis of cytochrome C oxidase 2| thymidine phosphorylase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Mitochondrial DNA depletion syndrome 1
TGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGA
TGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCGGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGA
Task1_train_28930
A mutation in LOC130067862, TYMP (ATAC-STARR-seq lymphoblastoid silent region 13986| thymidine phosphorylase), located on Chromosome 22, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Mitochondrial DNA depletion syndrome 1
ATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTG
ATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCGGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTG
Task1_train_28931
A variant on Chromosome 22 in gene LOC130067862, TYMP (ATAC-STARR-seq lymphoblastoid silent region 13986| thymidine phosphorylase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Mitochondrial DNA depletion syndrome 1
TGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGG
TGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCACCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGG
Task1_train_28932
A variant has been detected on Chromosome 22 in LOC130067862, TYMP (ATAC-STARR-seq lymphoblastoid silent region 13986| thymidine phosphorylase). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Mitochondrial DNA depletion syndrome 1
TGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGG
TGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCGCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGG
Task1_train_28933
Consider this mutation in TYMP (thymidine phosphorylase) on Chromosome 22. Is this a benign change or a disease-causing variant?
Pathogenic; Mitochondrial DNA depletion syndrome 1
AACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGC
AACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCGCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGC
Task1_train_28934
A sequence alteration has been identified in TYMP (thymidine phosphorylase) on Chromosome 22. Is it disease-inducing or harmless?
Pathogenic; Mitochondrial DNA depletion syndrome 1
ACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCT
ACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTTCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCT
Task1_train_28935
Mutation context: Chromosome 22, Gene TYMP (thymidine phosphorylase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Mitochondrial DNA depletion syndrome 1
CCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCA
CCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTTCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCA
Task1_train_28936
Located on Chromosome 22, this mutation impacts TYMP (thymidine phosphorylase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Mitochondrial DNA depletion syndrome 1
TGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGC
TGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCGGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGC
Task1_train_28937
A variant was discovered in gene TYMP (thymidine phosphorylase), Chromosome 22. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; not specified
TGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGC
TGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCGGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGC
Task1_train_28938
This mutation occurs in TYMP (thymidine phosphorylase) on Chromosome 22. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Mitochondrial DNA depletion syndrome 1
ACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACA
ACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGGCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACA
Task1_train_28939
A sequence alteration has been identified in TYMP (thymidine phosphorylase) on Chromosome 22. Is it disease-inducing or harmless?
Pathogenic; not specified
CTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCCAGCTGCTGTCCCGAC
CTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGTCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCCAGCTGCTGTCCCGAC
Task1_train_28940
This variant affects gene TYMP (thymidine phosphorylase) located on Chromosome 22. Evaluate its biological effect and specify any disease association.
Pathogenic; Mitochondrial DNA depletion syndrome 1
ACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCCAGCTGCTGTCCCGACTGAGCCAG
ACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGGACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCCAGCTGCTGTCCCGACTGAGCCAG
Task1_train_28941
A variant was discovered in gene TYMP (thymidine phosphorylase), Chromosome 22. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Mitochondrial DNA depletion syndrome 1
GAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCCAGCTGCTGTCCCGACTGAGCCAGGGCCTGGGTCAGCACCGAGGTCTCCTCCAGATCCATGCCCCGAAGTCGGATGGCCATCAGCATGGCCCCTGGTATGTGGGGGTACGCGTGAGGGTGGCAGCCCACAGCGGTGGGGCACCCTGGGGCCGGTGCTGGTAGTGGGGCACCGTCGCACCCCCAGGGACCCAAAGTCTCTCGGGCTGACCTCCCAGTCGGGGTCAGGAACGCCCAACCCTCCCCACGCACCGATCTGTGCGCCCTGCGCGCTCCCATTCACCACAGCGGCCACGAAGCCCCTGATGTCCGCTTCGCTCAGGCGGCCTCCGTCTCGCTTCATGCGGATCAGCTCCGGGAGCTGCTTGGGCTCTGGCGAAGGGTCGGGAAGTCCCTGGCTCCCTTCCCCG
GAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCGGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCCAGCTGCTGTCCCGACTGAGCCAGGGCCTGGGTCAGCACCGAGGTCTCCTCCAGATCCATGCCCCGAAGTCGGATGGCCATCAGCATGGCCCCTGGTATGTGGGGGTACGCGTGAGGGTGGCAGCCCACAGCGGTGGGGCACCCTGGGGCCGGTGCTGGTAGTGGGGCACCGTCGCACCCCCAGGGACCCAAAGTCTCTCGGGCTGACCTCCCAGTCGGGGTCAGGAACGCCCAACCCTCCCCACGCACCGATCTGTGCGCCCTGCGCGCTCCCATTCACCACAGCGGCCACGAAGCCCCTGATGTCCGCTTCGCTCAGGCGGCCTCCGTCTCGCTTCATGCGGATCAGCTCCGGGAGCTGCTTGGGCTCTGGCGAAGGGTCGGGAAGTCCCTGGCTCCCTTCCCCG
Task1_train_28942
Located on Chromosome 22, this mutation impacts TYMP (thymidine phosphorylase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Mitochondrial DNA depletion syndrome 1
CGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCCAGCTGCTGTCCCGACTGAGCCAGGGCCTGGGTCAGCACCGAGGTCTCCTCCAGATCCATGCCCCGAAGTCGGATGGCCATCAGCATGGCCCCTGGTATGTGGGGGTACGCGTGAGGGTGGCAGCCCACAGCGGTGGGGCACCCTGGGGCCGGTGCTGGTAGTGGGGCACCGTCGCACCCCCAGGGACCCAAAGTCTCTCGGGCTGACCTCCCAGTCGGGGTCAGGAACGCCCAACCCTCCCCACGCACCGATCTGTGCGCCCTGCGCGCTCCCATTCACCACAGCGGCCACGAAGCCCCTGATGTCCGCTTCGCTCAGGCGGCCTCCGTCTCGCTTCATGCGGATCAGCTCCGGGAGCTGCTTGGGCTCTGGCGAAGGGTCGGGAAGTCCCTGGCTCCCTTCCCCGGAGAA
CGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCCCGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCCAGCTGCTGTCCCGACTGAGCCAGGGCCTGGGTCAGCACCGAGGTCTCCTCCAGATCCATGCCCCGAAGTCGGATGGCCATCAGCATGGCCCCTGGTATGTGGGGGTACGCGTGAGGGTGGCAGCCCACAGCGGTGGGGCACCCTGGGGCCGGTGCTGGTAGTGGGGCACCGTCGCACCCCCAGGGACCCAAAGTCTCTCGGGCTGACCTCCCAGTCGGGGTCAGGAACGCCCAACCCTCCCCACGCACCGATCTGTGCGCCCTGCGCGCTCCCATTCACCACAGCGGCCACGAAGCCCCTGATGTCCGCTTCGCTCAGGCGGCCTCCGTCTCGCTTCATGCGGATCAGCTCCGGGAGCTGCTTGGGCTCTGGCGAAGGGTCGGGAAGTCCCTGGCTCCCTTCCCCGGAGAA
Task1_train_28943
A mutation found in TYMP (thymidine phosphorylase) on Chromosome 22 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Mitochondrial DNA depletion syndrome 1
AGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCCAGCTGCTGTCCCGACTGAGCCAGGGCCTGGGTCAGCACCGAGGTCTCCTCCAGATCCATGCCCCGAAGTCGGATGGCCATCAGCATGGCCCCTGGTATGTGGGGGTACGCGTGAGGGTGGCAGCCCACAGCGGTGGGGCACCCTGGGGCCGGTGCTGGTAGTGGGGCACCGTCGCACCCCCAGGGACCCAAAGTCTCTCGGGCTGACCTCCCAGTCGGGGTCAGGAACGCCCAACCCTCCCCACGCACCGATCTGTGCGCCCTGCGCGCTCCCATTCACCACAGCGGCCACGAAGCCCCTGATGTCCGCTTCGCTCAGGCGGCCTCCGTCTCGCTTCATGCGGATCAGCTCCGGGAGCTGCTTGGGCTCTGGCGAAGGGTCGGGAAGTCCCTGGCTCCCTTCCCCGGAGAAGTCACCAGGCGCGGGTGG
AGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTTTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCCAGCTGCTGTCCCGACTGAGCCAGGGCCTGGGTCAGCACCGAGGTCTCCTCCAGATCCATGCCCCGAAGTCGGATGGCCATCAGCATGGCCCCTGGTATGTGGGGGTACGCGTGAGGGTGGCAGCCCACAGCGGTGGGGCACCCTGGGGCCGGTGCTGGTAGTGGGGCACCGTCGCACCCCCAGGGACCCAAAGTCTCTCGGGCTGACCTCCCAGTCGGGGTCAGGAACGCCCAACCCTCCCCACGCACCGATCTGTGCGCCCTGCGCGCTCCCATTCACCACAGCGGCCACGAAGCCCCTGATGTCCGCTTCGCTCAGGCGGCCTCCGTCTCGCTTCATGCGGATCAGCTCCGGGAGCTGCTTGGGCTCTGGCGAAGGGTCGGGAAGTCCCTGGCTCCCTTCCCCGGAGAAGTCACCAGGCGCGGGTGG
Task1_train_28944
This sequence variant lies in TYMP (thymidine phosphorylase) on Chromosome 22. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Mitochondrial DNA depletion syndrome 1
CGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCCAGCTGCTGTCCCGACTGAGCCAGGGCCTGGGTCAGCACCGAGGTCTCCTCCAGATCCATGCCCCGAAGTCGGATGGCCATCAGCATGGCCCCTGGTATGTGGGGGTACGCGTGAGGGTGGCAGCCCACAGCGGTGGGGCACCCTGGGGCCGGTGCTGGTAGTGGGGCACCGTCGCACCCCCAGGGACCCAAAGTCTCTCGGGCTGACCTCCCAGTCGGGGTCAGGAACGCCCAACCCTCCCCACGCACCGATCTGTGCGCCCTGCGCGCTCCCATTCACCACAGCGGCCACGAAGCCCCTGATGTCCGCTTCGCTCAGGCGGCCTCCGTCTCGCTTCATGCGGATCAGCTCCGGGAGCTGCTTGGGCTCTGGCGAAGGGTCGGGAAGTCCCTGGCTCCCTTCCCCGGAGAAGTCACCAGGCGCGGGTGGGGCCCCGGTTCCCGGGGTCATCAAGGCTGCCATCGCTCCGGGCCTGCGGGGATGCCTGACACGTCCGGGGTCTGC
CGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCGGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCCAGCTGCTGTCCCGACTGAGCCAGGGCCTGGGTCAGCACCGAGGTCTCCTCCAGATCCATGCCCCGAAGTCGGATGGCCATCAGCATGGCCCCTGGTATGTGGGGGTACGCGTGAGGGTGGCAGCCCACAGCGGTGGGGCACCCTGGGGCCGGTGCTGGTAGTGGGGCACCGTCGCACCCCCAGGGACCCAAAGTCTCTCGGGCTGACCTCCCAGTCGGGGTCAGGAACGCCCAACCCTCCCCACGCACCGATCTGTGCGCCCTGCGCGCTCCCATTCACCACAGCGGCCACGAAGCCCCTGATGTCCGCTTCGCTCAGGCGGCCTCCGTCTCGCTTCATGCGGATCAGCTCCGGGAGCTGCTTGGGCTCTGGCGAAGGGTCGGGAAGTCCCTGGCTCCCTTCCCCGGAGAAGTCACCAGGCGCGGGTGGGGCCCCGGTTCCCGGGGTCATCAAGGCTGCCATCGCTCCGGGCCTGCGGGGATGCCTGACACGTCCGGGGTCTGC
Task1_train_28945
A variant on Chromosome 22 in gene TYMP (thymidine phosphorylase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Mitochondrial DNA depletion syndrome 1
CCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCCAGCTGCTGTCCCGACTGAGCCAGGGCCTGGGTCAGCACCGAGGTCTCCTCCAGATCCATGCCCCGAAGTCGGATGGCCATCAGCATGGCCCCTGGTATGTGGGGGTACGCGTGAGGGTGGCAGCCCACAGCGGTGGGGCACCCTGGGGCCGGTGCTGGTAGTGGGGCACCGTCGCACCCCCAGGGACCCAAAGTCTCTCGGGCTGACCTCCCAGTCGGGGTCAGGAACGCCCAACCCTCCCCACGCACCGATCTGTGCGCCCTGCGCGCTCCCATTCACCACAGCGGCCACGAAGCCCCTGATGTCCGCTTCGCTCAGGCGGCCTCCGTCTCGCTTCATGCGGATCAGCTCCGGGAGCTGCTTGGGCTCTGGCGAAGGGTCGGGAAGTCCCTGGCTCCCTTCCCCGGAGAAGTCACCAGGCGCGGGTGGGGCCCCGGTTCCCGGGGTCATCAAGGCTGCCATCGCTCCGGGCCTGCGGGGATGCCTGACACGTCCGGGGTCTGCGGCCTCCCGGCG
CCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCCTCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCCAGCTGCTGTCCCGACTGAGCCAGGGCCTGGGTCAGCACCGAGGTCTCCTCCAGATCCATGCCCCGAAGTCGGATGGCCATCAGCATGGCCCCTGGTATGTGGGGGTACGCGTGAGGGTGGCAGCCCACAGCGGTGGGGCACCCTGGGGCCGGTGCTGGTAGTGGGGCACCGTCGCACCCCCAGGGACCCAAAGTCTCTCGGGCTGACCTCCCAGTCGGGGTCAGGAACGCCCAACCCTCCCCACGCACCGATCTGTGCGCCCTGCGCGCTCCCATTCACCACAGCGGCCACGAAGCCCCTGATGTCCGCTTCGCTCAGGCGGCCTCCGTCTCGCTTCATGCGGATCAGCTCCGGGAGCTGCTTGGGCTCTGGCGAAGGGTCGGGAAGTCCCTGGCTCCCTTCCCCGGAGAAGTCACCAGGCGCGGGTGGGGCCCCGGTTCCCGGGGTCATCAAGGCTGCCATCGCTCCGGGCCTGCGGGGATGCCTGACACGTCCGGGGTCTGCGGCCTCCCGGCG
Task1_train_28946
The gene TYMP (thymidine phosphorylase) is located on Chromosome 22, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Mitochondrial DNA depletion syndrome 1
GCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCCAGCTGCTGTCCCGACTGAGCCAGGGCCTGGGTCAGCACCGAGGTCTCCTCCAGATCCATGCCCCGAAGTCGGATGGCCATCAGCATGGCCCCTGGTATGTGGGGGTACGCGTGAGGGTGGCAGCCCACAGCGGTGGGGCACCCTGGGGCCGGTGCTGGTAGTGGGGCACCGTCGCACCCCCAGGGACCCAAAGTCTCTCGGGCTGACCTCCCAGTCGGGGTCAGGAACGCCCAACCCTCCCCACGCACCGATCTGTGCGCCCTGCGCGCTCCCATTCACCACAGCGGCCACGAAGCCCCTGATGTCCGCTTCGCTCAGGCGGCCTCCGTCTCGCTTCATGCGGATCAGCTCCGGGAGCTGCTTGGGCTCTGGCGAAGGGTCGGGAAGTCCCTGGCTCCCTTCCCCGGAGAAGTCACCAGGCGCGGGTGGGGCCCCGGTTCCCGGGGTCATCAAGGCTGCCATCGCTCCGGGCCTGCGGGGATGCCTGACACGTCCGGGGTCTGCGGCCTCCCGGCGTCGGTGTCTGAGCCACGTGCTCCTGTCCCGACCCCTTTCCCGTGTCTCTCCGGTGTCCGCCCCTCGGTCCCGTGTCTGTGTCGCCCTCGTCCGTGTCTGCCTCCCGCTTCCCCGCCTCGCGACTTGAGCCCCGCCCGTACCTGCTTAGGGCGCTGCCCTCGCCCGCTTGCTCCGGATCCCAGCCCAGGTACCCGGCCTCGCCCGCGGGTCGGGACCGTAGGGTTCAGGGTTCGCGCACAGCGGTCCACTGCCGGCGGCGGGGCGGCGGCGCCCCAGGACGGCAGGCGGGTGGGGCCGCCTGGAGGGCGGAGCTCGGCAGTCGCCGCCCCCGGGAAGCCTTGCACGCCGCGCCCCGGCCAATCCCCCGGTGCCCCCGGACACGCGGAACTTCCGGGCCGTCGGGGCCCGGGGCCGTCGGCGGGGGTGATCCCTGGCCGGTCCCGCCCGGCGTGGGTCTCGGGCGTCTGTGGCTCCCGAGAGTCCCCCTCCCGCCCTCGGTGGGGTCTCGACGTTCGGACGCGGCGCAGCGCTGGGGTCCCGGCCTCGCCCGACGCTCGGGCCCCGCCCCGCTGGGTTCGGAGTTGGGACACGGCCCCAGCCGTGGCTCCACCCCAGGCCTTGCGCCAGGACGCGCAGAGAGAGAGAGAGAGAGGCGGACACGATGCGGACTCGCAGACTTTAAGCAAACACGTGTGGGGCCGCTCCCGCCTGGCGGGTCAGTTGTCCGCGTCGGTCACCAGCGGGGCCAGGTAGTCCGAGTGCCGGATCCCGAAACTCCAGCCGCGGGGCTTCCGGTGCTGCGGGCCCGGAGACACCGCTGACCTCGCGGGGCCG
GCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGGCTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCCAGCTGCTGTCCCGACTGAGCCAGGGCCTGGGTCAGCACCGAGGTCTCCTCCAGATCCATGCCCCGAAGTCGGATGGCCATCAGCATGGCCCCTGGTATGTGGGGGTACGCGTGAGGGTGGCAGCCCACAGCGGTGGGGCACCCTGGGGCCGGTGCTGGTAGTGGGGCACCGTCGCACCCCCAGGGACCCAAAGTCTCTCGGGCTGACCTCCCAGTCGGGGTCAGGAACGCCCAACCCTCCCCACGCACCGATCTGTGCGCCCTGCGCGCTCCCATTCACCACAGCGGCCACGAAGCCCCTGATGTCCGCTTCGCTCAGGCGGCCTCCGTCTCGCTTCATGCGGATCAGCTCCGGGAGCTGCTTGGGCTCTGGCGAAGGGTCGGGAAGTCCCTGGCTCCCTTCCCCGGAGAAGTCACCAGGCGCGGGTGGGGCCCCGGTTCCCGGGGTCATCAAGGCTGCCATCGCTCCGGGCCTGCGGGGATGCCTGACACGTCCGGGGTCTGCGGCCTCCCGGCGTCGGTGTCTGAGCCACGTGCTCCTGTCCCGACCCCTTTCCCGTGTCTCTCCGGTGTCCGCCCCTCGGTCCCGTGTCTGTGTCGCCCTCGTCCGTGTCTGCCTCCCGCTTCCCCGCCTCGCGACTTGAGCCCCGCCCGTACCTGCTTAGGGCGCTGCCCTCGCCCGCTTGCTCCGGATCCCAGCCCAGGTACCCGGCCTCGCCCGCGGGTCGGGACCGTAGGGTTCAGGGTTCGCGCACAGCGGTCCACTGCCGGCGGCGGGGCGGCGGCGCCCCAGGACGGCAGGCGGGTGGGGCCGCCTGGAGGGCGGAGCTCGGCAGTCGCCGCCCCCGGGAAGCCTTGCACGCCGCGCCCCGGCCAATCCCCCGGTGCCCCCGGACACGCGGAACTTCCGGGCCGTCGGGGCCCGGGGCCGTCGGCGGGGGTGATCCCTGGCCGGTCCCGCCCGGCGTGGGTCTCGGGCGTCTGTGGCTCCCGAGAGTCCCCCTCCCGCCCTCGGTGGGGTCTCGACGTTCGGACGCGGCGCAGCGCTGGGGTCCCGGCCTCGCCCGACGCTCGGGCCCCGCCCCGCTGGGTTCGGAGTTGGGACACGGCCCCAGCCGTGGCTCCACCCCAGGCCTTGCGCCAGGACGCGCAGAGAGAGAGAGAGAGAGGCGGACACGATGCGGACTCGCAGACTTTAAGCAAACACGTGTGGGGCCGCTCCCGCCTGGCGGGTCAGTTGTCCGCGTCGGTCACCAGCGGGGCCAGGTAGTCCGAGTGCCGGATCCCGAAACTCCAGCCGCGGGGCTTCCGGTGCTGCGGGCCCGGAGACACCGCTGACCTCGCGGGGCCG
Task1_train_28947
The following genetic variant occurs in TYMP (thymidine phosphorylase) on Chromosome 22. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Mitochondrial DNA depletion syndrome 1
GGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCCAGCTGCTGTCCCGACTGAGCCAGGGCCTGGGTCAGCACCGAGGTCTCCTCCAGATCCATGCCCCGAAGTCGGATGGCCATCAGCATGGCCCCTGGTATGTGGGGGTACGCGTGAGGGTGGCAGCCCACAGCGGTGGGGCACCCTGGGGCCGGTGCTGGTAGTGGGGCACCGTCGCACCCCCAGGGACCCAAAGTCTCTCGGGCTGACCTCCCAGTCGGGGTCAGGAACGCCCAACCCTCCCCACGCACCGATCTGTGCGCCCTGCGCGCTCCCATTCACCACAGCGGCCACGAAGCCCCTGATGTCCGCTTCGCTCAGGCGGCCTCCGTCTCGCTTCATGCGGATCAGCTCCGGGAGCTGCTTGGGCTCTGGCGAAGGGTCGGGAAGTCCCTGGCTCCCTTCCCCGGAGAAGTCACCAGGCGCGGGTGGGGCCCCGGTTCCCGGGGTCATCAAGGCTGCCATCGCTCCGGGCCTGCGGGGATGCCTGACACGTCCGGGGTCTGCGGCCTCCCGGCGTCGGTGTCTGAGCCACGTGCTCCTGTCCCGACCCCTTTCCCGTGTCTCTCCGGTGTCCGCCCCTCGGTCCCGTGTCTGTGTCGCCCTCGTCCGTGTCTGCCTCCCGCTTCCCCGCCTCGCGACTTGAGCCCCGCCCGTACCTGCTTAGGGCGCTGCCCTCGCCCGCTTGCTCCGGATCCCAGCCCAGGTACCCGGCCTCGCCCGCGGGTCGGGACCGTAGGGTTCAGGGTTCGCGCACAGCGGTCCACTGCCGGCGGCGGGGCGGCGGCGCCCCAGGACGGCAGGCGGGTGGGGCCGCCTGGAGGGCGGAGCTCGGCAGTCGCCGCCCCCGGGAAGCCTTGCACGCCGCGCCCCGGCCAATCCCCCGGTGCCCCCGGACACGCGGAACTTCCGGGCCGTCGGGGCCCGGGGCCGTCGGCGGGGGTGATCCCTGGCCGGTCCCGCCCGGCGTGGGTCTCGGGCGTCTGTGGCTCCCGAGAGTCCCCCTCCCGCCCTCGGTGGGGTCTCGACGTTCGGACGCGGCGCAGCGCTGGGGTCCCGGCCTCGCCCGACGCTCGGGCCCCGCCCCGCTGGGTTCGGAGTTGGGACACGGCCCCAGCCGTGGCTCCACCCCAGGCCTTGCGCCAGGACGCGCAGAGAGAGAGAGAGAGAGGCGGACACGATGCGGACTCGCAGACTTTAAGCAAACACGTGTGGGGCCGCTCCCGCCTGGCGGGTCAGTTGTCCGCGTCGGTCACCAGCGGGGCCAGGTAGTCCGAGTGCCGGATCCCGAAACTCCAGCCGCGGGGCTTCCGGTGCTGCGGGCCCGGAGACACCGCTGACCTCGCGGGGCCGGCATCCTCTCC
GGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTACCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCCAGCTGCTGTCCCGACTGAGCCAGGGCCTGGGTCAGCACCGAGGTCTCCTCCAGATCCATGCCCCGAAGTCGGATGGCCATCAGCATGGCCCCTGGTATGTGGGGGTACGCGTGAGGGTGGCAGCCCACAGCGGTGGGGCACCCTGGGGCCGGTGCTGGTAGTGGGGCACCGTCGCACCCCCAGGGACCCAAAGTCTCTCGGGCTGACCTCCCAGTCGGGGTCAGGAACGCCCAACCCTCCCCACGCACCGATCTGTGCGCCCTGCGCGCTCCCATTCACCACAGCGGCCACGAAGCCCCTGATGTCCGCTTCGCTCAGGCGGCCTCCGTCTCGCTTCATGCGGATCAGCTCCGGGAGCTGCTTGGGCTCTGGCGAAGGGTCGGGAAGTCCCTGGCTCCCTTCCCCGGAGAAGTCACCAGGCGCGGGTGGGGCCCCGGTTCCCGGGGTCATCAAGGCTGCCATCGCTCCGGGCCTGCGGGGATGCCTGACACGTCCGGGGTCTGCGGCCTCCCGGCGTCGGTGTCTGAGCCACGTGCTCCTGTCCCGACCCCTTTCCCGTGTCTCTCCGGTGTCCGCCCCTCGGTCCCGTGTCTGTGTCGCCCTCGTCCGTGTCTGCCTCCCGCTTCCCCGCCTCGCGACTTGAGCCCCGCCCGTACCTGCTTAGGGCGCTGCCCTCGCCCGCTTGCTCCGGATCCCAGCCCAGGTACCCGGCCTCGCCCGCGGGTCGGGACCGTAGGGTTCAGGGTTCGCGCACAGCGGTCCACTGCCGGCGGCGGGGCGGCGGCGCCCCAGGACGGCAGGCGGGTGGGGCCGCCTGGAGGGCGGAGCTCGGCAGTCGCCGCCCCCGGGAAGCCTTGCACGCCGCGCCCCGGCCAATCCCCCGGTGCCCCCGGACACGCGGAACTTCCGGGCCGTCGGGGCCCGGGGCCGTCGGCGGGGGTGATCCCTGGCCGGTCCCGCCCGGCGTGGGTCTCGGGCGTCTGTGGCTCCCGAGAGTCCCCCTCCCGCCCTCGGTGGGGTCTCGACGTTCGGACGCGGCGCAGCGCTGGGGTCCCGGCCTCGCCCGACGCTCGGGCCCCGCCCCGCTGGGTTCGGAGTTGGGACACGGCCCCAGCCGTGGCTCCACCCCAGGCCTTGCGCCAGGACGCGCAGAGAGAGAGAGAGAGAGGCGGACACGATGCGGACTCGCAGACTTTAAGCAAACACGTGTGGGGCCGCTCCCGCCTGGCGGGTCAGTTGTCCGCGTCGGTCACCAGCGGGGCCAGGTAGTCCGAGTGCCGGATCCCGAAACTCCAGCCGCGGGGCTTCCGGTGCTGCGGGCCCGGAGACACCGCTGACCTCGCGGGGCCGGCATCCTCTCC
Task1_train_28948
This alteration occurs within gene TYMP (thymidine phosphorylase) located on Chromosome 22. Is it associated with a disease or is it a benign variant?
Pathogenic; Mitochondrial DNA depletion syndrome 1
CAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCCAGCTGCTGTCCCGACTGAGCCAGGGCCTGGGTCAGCACCGAGGTCTCCTCCAGATCCATGCCCCGAAGTCGGATGGCCATCAGCATGGCCCCTGGTATGTGGGGGTACGCGTGAGGGTGGCAGCCCACAGCGGTGGGGCACCCTGGGGCCGGTGCTGGTAGTGGGGCACCGTCGCACCCCCAGGGACCCAAAGTCTCTCGGGCTGACCTCCCAGTCGGGGTCAGGAACGCCCAACCCTCCCCACGCACCGATCTGTGCGCCCTGCGCGCTCCCATTCACCACAGCGGCCACGAAGCCCCTGATGTCCGCTTCGCTCAGGCGGCCTCCGTCTCGCTTCATGCGGATCAGCTCCGGGAGCTGCTTGGGCTCTGGCGAAGGGTCGGGAAGTCCCTGGCTCCCTTCCCCGGAGAAGTCACCAGGCGCGGGTGGGGCCCCGGTTCCCGGGGTCATCAAGGCTGCCATCGCTCCGGGCCTGCGGGGATGCCTGACACGTCCGGGGTCTGCGGCCTCCCGGCGTCGGTGTCTGAGCCACGTGCTCCTGTCCCGACCCCTTTCCCGTGTCTCTCCGGTGTCCGCCCCTCGGTCCCGTGTCTGTGTCGCCCTCGTCCGTGTCTGCCTCCCGCTTCCCCGCCTCGCGACTTGAGCCCCGCCCGTACCTGCTTAGGGCGCTGCCCTCGCCCGCTTGCTCCGGATCCCAGCCCAGGTACCCGGCCTCGCCCGCGGGTCGGGACCGTAGGGTTCAGGGTTCGCGCACAGCGGTCCACTGCCGGCGGCGGGGCGGCGGCGCCCCAGGACGGCAGGCGGGTGGGGCCGCCTGGAGGGCGGAGCTCGGCAGTCGCCGCCCCCGGGAAGCCTTGCACGCCGCGCCCCGGCCAATCCCCCGGTGCCCCCGGACACGCGGAACTTCCGGGCCGTCGGGGCCCGGGGCCGTCGGCGGGGGTGATCCCTGGCCGGTCCCGCCCGGCGTGGGTCTCGGGCGTCTGTGGCTCCCGAGAGTCCCCCTCCCGCCCTCGGTGGGGTCTCGACGTTCGGACGCGGCGCAGCGCTGGGGTCCCGGCCTCGCCCGACGCTCGGGCCCCGCCCCGCTGGGTTCGGAGTTGGGACACGGCCCCAGCCGTGGCTCCACCCCAGGCCTTGCGCCAGGACGCGCAGAGAGAGAGAGAGAGAGGCGGACACGATGCGGACTCGCAGACTTTAAGCAAACACGTGTGGGGCCGCTCCCGCCTGGCGGGTCAGTTGTCCGCGTCGGTCACCAGCGGGGCCAGGTAGTCCGAGTGCCGGATCCCGAAACTCCAGCCGCGGGGCTTCCGGTGCTGCGGGCCCGGAGACACCGCTGACCTCGCGGGGCCGGCATCCTCTCCGCGCCGGGAC
CAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCTTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCCAGCTGCTGTCCCGACTGAGCCAGGGCCTGGGTCAGCACCGAGGTCTCCTCCAGATCCATGCCCCGAAGTCGGATGGCCATCAGCATGGCCCCTGGTATGTGGGGGTACGCGTGAGGGTGGCAGCCCACAGCGGTGGGGCACCCTGGGGCCGGTGCTGGTAGTGGGGCACCGTCGCACCCCCAGGGACCCAAAGTCTCTCGGGCTGACCTCCCAGTCGGGGTCAGGAACGCCCAACCCTCCCCACGCACCGATCTGTGCGCCCTGCGCGCTCCCATTCACCACAGCGGCCACGAAGCCCCTGATGTCCGCTTCGCTCAGGCGGCCTCCGTCTCGCTTCATGCGGATCAGCTCCGGGAGCTGCTTGGGCTCTGGCGAAGGGTCGGGAAGTCCCTGGCTCCCTTCCCCGGAGAAGTCACCAGGCGCGGGTGGGGCCCCGGTTCCCGGGGTCATCAAGGCTGCCATCGCTCCGGGCCTGCGGGGATGCCTGACACGTCCGGGGTCTGCGGCCTCCCGGCGTCGGTGTCTGAGCCACGTGCTCCTGTCCCGACCCCTTTCCCGTGTCTCTCCGGTGTCCGCCCCTCGGTCCCGTGTCTGTGTCGCCCTCGTCCGTGTCTGCCTCCCGCTTCCCCGCCTCGCGACTTGAGCCCCGCCCGTACCTGCTTAGGGCGCTGCCCTCGCCCGCTTGCTCCGGATCCCAGCCCAGGTACCCGGCCTCGCCCGCGGGTCGGGACCGTAGGGTTCAGGGTTCGCGCACAGCGGTCCACTGCCGGCGGCGGGGCGGCGGCGCCCCAGGACGGCAGGCGGGTGGGGCCGCCTGGAGGGCGGAGCTCGGCAGTCGCCGCCCCCGGGAAGCCTTGCACGCCGCGCCCCGGCCAATCCCCCGGTGCCCCCGGACACGCGGAACTTCCGGGCCGTCGGGGCCCGGGGCCGTCGGCGGGGGTGATCCCTGGCCGGTCCCGCCCGGCGTGGGTCTCGGGCGTCTGTGGCTCCCGAGAGTCCCCCTCCCGCCCTCGGTGGGGTCTCGACGTTCGGACGCGGCGCAGCGCTGGGGTCCCGGCCTCGCCCGACGCTCGGGCCCCGCCCCGCTGGGTTCGGAGTTGGGACACGGCCCCAGCCGTGGCTCCACCCCAGGCCTTGCGCCAGGACGCGCAGAGAGAGAGAGAGAGAGGCGGACACGATGCGGACTCGCAGACTTTAAGCAAACACGTGTGGGGCCGCTCCCGCCTGGCGGGTCAGTTGTCCGCGTCGGTCACCAGCGGGGCCAGGTAGTCCGAGTGCCGGATCCCGAAACTCCAGCCGCGGGGCTTCCGGTGCTGCGGGCCCGGAGACACCGCTGACCTCGCGGGGCCGGCATCCTCTCCGCGCCGGGAC
Task1_train_28949
A sequence alteration has been identified in TYMP (thymidine phosphorylase) on Chromosome 22. Is it disease-inducing or harmless?
Pathogenic; Mitochondrial DNA depletion syndrome 1
GGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCCAGCTGCTGTCCCGACTGAGCCAGGGCCTGGGTCAGCACCGAGGTCTCCTCCAGATCCATGCCCCGAAGTCGGATGGCCATCAGCATGGCCCCTGGTATGTGGGGGTACGCGTGAGGGTGGCAGCCCACAGCGGTGGGGCACCCTGGGGCCGGTGCTGGTAGTGGGGCACCGTCGCACCCCCAGGGACCCAAAGTCTCTCGGGCTGACCTCCCAGTCGGGGTCAGGAACGCCCAACCCTCCCCACGCACCGATCTGTGCGCCCTGCGCGCTCCCATTCACCACAGCGGCCACGAAGCCCCTGATGTCCGCTTCGCTCAGGCGGCCTCCGTCTCGCTTCATGCGGATCAGCTCCGGGAGCTGCTTGGGCTCTGGCGAAGGGTCGGGAAGTCCCTGGCTCCCTTCCCCGGAGAAGTCACCAGGCGCGGGTGGGGCCCCGGTTCCCGGGGTCATCAAGGCTGCCATCGCTCCGGGCCTGCGGGGATGCCTGACACGTCCGGGGTCTGCGGCCTCCCGGCGTCGGTGTCTGAGCCACGTGCTCCTGTCCCGACCCCTTTCCCGTGTCTCTCCGGTGTCCGCCCCTCGGTCCCGTGTCTGTGTCGCCCTCGTCCGTGTCTGCCTCCCGCTTCCCCGCCTCGCGACTTGAGCCCCGCCCGTACCTGCTTAGGGCGCTGCCCTCGCCCGCTTGCTCCGGATCCCAGCCCAGGTACCCGGCCTCGCCCGCGGGTCGGGACCGTAGGGTTCAGGGTTCGCGCACAGCGGTCCACTGCCGGCGGCGGGGCGGCGGCGCCCCAGGACGGCAGGCGGGTGGGGCCGCCTGGAGGGCGGAGCTCGGCAGTCGCCGCCCCCGGGAAGCCTTGCACGCCGCGCCCCGGCCAATCCCCCGGTGCCCCCGGACACGCGGAACTTCCGGGCCGTCGGGGCCCGGGGCCGTCGGCGGGGGTGATCCCTGGCCGGTCCCGCCCGGCGTGGGTCTCGGGCGTCTGTGGCTCCCGAGAGTCCCCCTCCCGCCCTCGGTGGGGTCTCGACGTTCGGACGCGGCGCAGCGCTGGGGTCCCGGCCTCGCCCGACGCTCGGGCCCCGCCCCGCTGGGTTCGGAGTTGGGACACGGCCCCAGCCGTGGCTCCACCCCAGGCCTTGCGCCAGGACGCGCAGAGAGAGAGAGAGAGAGGCGGACACGATGCGGACTCGCAGACTTTAAGCAAACACGTGTGGGGCCGCTCCCGCCTGGCGGGTCAGTTGTCCGCGTCGGTCACCAGCGGGGCCAGGTAGTCCGAGTGCCGGATCCCGAAACTCCAGCCGCGGGGCTTCCGGTGCTGCGGGCCCGGAGACACCGCTGACCTCGCGGGGCCGGCATCCTCTCCGCGCCGGGACCCCTGGACCCCCGGGGACTCTGATCCCATCACTCCGACCTCAGGCCCTCCCCACTCTCCTGACTCTGACCCTTGACCCTGGGCTCCAGGCCACCTGATCCACGTTGTAGGCCGCGGGCCCTGGCTTCCGAGTGTTGTCTTGGGGGAGCGAAGTCCGCGCCAGAATCGTGAACTGGGGGGCCCGGGACTTGTAGACCCCTGGACTCACGACCTGATAGGCGCAGGGGCCCGGGGTCTGCGAGAGGGCAGAGGGTGCTGGCTGCCGCCTCCACTGCCGCGGACCAGGGACCCCCTGCGTCCGCCCCGGCCCCTCCCCCACCTTGCTGAGGTCCTCGAAGAAACTGCCAGCCGCTCTGCGGCCGTAGATGGAGCAAGTTGGGGCGGAGACTTTGCCGATGACGCGCGGACCCAAGAGCGAGGGCACCGTATAGGCCGCGGGACCTGGGGAGGAGGCAGGGCTCGGGGGTAGTGGGTCTCCGCGGACAGGCGCAGGGTGGTCCCAGCTCCCGGAGGGCGGTCCCCGGTCTCGAGTGGGAAGGCCCACAGTTCTGGGATGGGCCGTTCTGACCTCACCTGGGCTCT
GGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCTCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCCAGCTGCTGTCCCGACTGAGCCAGGGCCTGGGTCAGCACCGAGGTCTCCTCCAGATCCATGCCCCGAAGTCGGATGGCCATCAGCATGGCCCCTGGTATGTGGGGGTACGCGTGAGGGTGGCAGCCCACAGCGGTGGGGCACCCTGGGGCCGGTGCTGGTAGTGGGGCACCGTCGCACCCCCAGGGACCCAAAGTCTCTCGGGCTGACCTCCCAGTCGGGGTCAGGAACGCCCAACCCTCCCCACGCACCGATCTGTGCGCCCTGCGCGCTCCCATTCACCACAGCGGCCACGAAGCCCCTGATGTCCGCTTCGCTCAGGCGGCCTCCGTCTCGCTTCATGCGGATCAGCTCCGGGAGCTGCTTGGGCTCTGGCGAAGGGTCGGGAAGTCCCTGGCTCCCTTCCCCGGAGAAGTCACCAGGCGCGGGTGGGGCCCCGGTTCCCGGGGTCATCAAGGCTGCCATCGCTCCGGGCCTGCGGGGATGCCTGACACGTCCGGGGTCTGCGGCCTCCCGGCGTCGGTGTCTGAGCCACGTGCTCCTGTCCCGACCCCTTTCCCGTGTCTCTCCGGTGTCCGCCCCTCGGTCCCGTGTCTGTGTCGCCCTCGTCCGTGTCTGCCTCCCGCTTCCCCGCCTCGCGACTTGAGCCCCGCCCGTACCTGCTTAGGGCGCTGCCCTCGCCCGCTTGCTCCGGATCCCAGCCCAGGTACCCGGCCTCGCCCGCGGGTCGGGACCGTAGGGTTCAGGGTTCGCGCACAGCGGTCCACTGCCGGCGGCGGGGCGGCGGCGCCCCAGGACGGCAGGCGGGTGGGGCCGCCTGGAGGGCGGAGCTCGGCAGTCGCCGCCCCCGGGAAGCCTTGCACGCCGCGCCCCGGCCAATCCCCCGGTGCCCCCGGACACGCGGAACTTCCGGGCCGTCGGGGCCCGGGGCCGTCGGCGGGGGTGATCCCTGGCCGGTCCCGCCCGGCGTGGGTCTCGGGCGTCTGTGGCTCCCGAGAGTCCCCCTCCCGCCCTCGGTGGGGTCTCGACGTTCGGACGCGGCGCAGCGCTGGGGTCCCGGCCTCGCCCGACGCTCGGGCCCCGCCCCGCTGGGTTCGGAGTTGGGACACGGCCCCAGCCGTGGCTCCACCCCAGGCCTTGCGCCAGGACGCGCAGAGAGAGAGAGAGAGAGGCGGACACGATGCGGACTCGCAGACTTTAAGCAAACACGTGTGGGGCCGCTCCCGCCTGGCGGGTCAGTTGTCCGCGTCGGTCACCAGCGGGGCCAGGTAGTCCGAGTGCCGGATCCCGAAACTCCAGCCGCGGGGCTTCCGGTGCTGCGGGCCCGGAGACACCGCTGACCTCGCGGGGCCGGCATCCTCTCCGCGCCGGGACCCCTGGACCCCCGGGGACTCTGATCCCATCACTCCGACCTCAGGCCCTCCCCACTCTCCTGACTCTGACCCTTGACCCTGGGCTCCAGGCCACCTGATCCACGTTGTAGGCCGCGGGCCCTGGCTTCCGAGTGTTGTCTTGGGGGAGCGAAGTCCGCGCCAGAATCGTGAACTGGGGGGCCCGGGACTTGTAGACCCCTGGACTCACGACCTGATAGGCGCAGGGGCCCGGGGTCTGCGAGAGGGCAGAGGGTGCTGGCTGCCGCCTCCACTGCCGCGGACCAGGGACCCCCTGCGTCCGCCCCGGCCCCTCCCCCACCTTGCTGAGGTCCTCGAAGAAACTGCCAGCCGCTCTGCGGCCGTAGATGGAGCAAGTTGGGGCGGAGACTTTGCCGATGACGCGCGGACCCAAGAGCGAGGGCACCGTATAGGCCGCGGGACCTGGGGAGGAGGCAGGGCTCGGGGGTAGTGGGTCTCCGCGGACAGGCGCAGGGTGGTCCCAGCTCCCGGAGGGCGGTCCCCGGTCTCGAGTGGGAAGGCCCACAGTTCTGGGATGGGCCGTTCTGACCTCACCTGGGCTCT
Task1_train_28950
Given this context: Chromosome 22, gene TYMP (thymidine phosphorylase) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Mitochondrial DNA depletion syndrome 1
GAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCCAGCTGCTGTCCCGACTGAGCCAGGGCCTGGGTCAGCACCGAGGTCTCCTCCAGATCCATGCCCCGAAGTCGGATGGCCATCAGCATGGCCCCTGGTATGTGGGGGTACGCGTGAGGGTGGCAGCCCACAGCGGTGGGGCACCCTGGGGCCGGTGCTGGTAGTGGGGCACCGTCGCACCCCCAGGGACCCAAAGTCTCTCGGGCTGACCTCCCAGTCGGGGTCAGGAACGCCCAACCCTCCCCACGCACCGATCTGTGCGCCCTGCGCGCTCCCATTCACCACAGCGGCCACGAAGCCCCTGATGTCCGCTTCGCTCAGGCGGCCTCCGTCTCGCTTCATGCGGATCAGCTCCGGGAGCTGCTTGGGCTCTGGCGAAGGGTCGGGAAGTCCCTGGCTCCCTTCCCCGGAGAAGTCACCAGGCGCGGGTGGGGCCCCGGTTCCCGGGGTCATCAAGGCTGCCATCGCTCCGGGCCTGCGGGGATGCCTGACACGTCCGGGGTCTGCGGCCTCCCGGCGTCGGTGTCTGAGCCACGTGCTCCTGTCCCGACCCCTTTCCCGTGTCTCTCCGGTGTCCGCCCCTCGGTCCCGTGTCTGTGTCGCCCTCGTCCGTGTCTGCCTCCCGCTTCCCCGCCTCGCGACTTGAGCCCCGCCCGTACCTGCTTAGGGCGCTGCCCTCGCCCGCTTGCTCCGGATCCCAGCCCAGGTACCCGGCCTCGCCCGCGGGTCGGGACCGTAGGGTTCAGGGTTCGCGCACAGCGGTCCACTGCCGGCGGCGGGGCGGCGGCGCCCCAGGACGGCAGGCGGGTGGGGCCGCCTGGAGGGCGGAGCTCGGCAGTCGCCGCCCCCGGGAAGCCTTGCACGCCGCGCCCCGGCCAATCCCCCGGTGCCCCCGGACACGCGGAACTTCCGGGCCGTCGGGGCCCGGGGCCGTCGGCGGGGGTGATCCCTGGCCGGTCCCGCCCGGCGTGGGTCTCGGGCGTCTGTGGCTCCCGAGAGTCCCCCTCCCGCCCTCGGTGGGGTCTCGACGTTCGGACGCGGCGCAGCGCTGGGGTCCCGGCCTCGCCCGACGCTCGGGCCCCGCCCCGCTGGGTTCGGAGTTGGGACACGGCCCCAGCCGTGGCTCCACCCCAGGCCTTGCGCCAGGACGCGCAGAGAGAGAGAGAGAGAGGCGGACACGATGCGGACTCGCAGACTTTAAGCAAACACGTGTGGGGCCGCTCCCGCCTGGCGGGTCAGTTGTCCGCGTCGGTCACCAGCGGGGCCAGGTAGTCCGAGTGCCGGATCCCGAAACTCCAGCCGCGGGGCTTCCGGTGCTGCGGGCCCGGAGACACCGCTGACCTCGCGGGGCCGGCATCCTCTCCGCGCCGGGACCCCTGGACCCCCGGGGACTCTGATCCCATCACTCCGACCTCAGGCCCTCCCCACTCTCCTGACTCTGACCCTTGACCCTGGGCTCCAGGCCACCTGATCCACGTTGTAGGCCGCGGGCCCTGGCTTCCGAGTGTTGTCTTGGGGGAGCGAAGTCCGCGCCAGAATCGTGAACTGGGGGGCCCGGGACTTGTAGACCCCTGGACTCACGACCTGATAGGCGCAGGGGCCCGGGGTCTGCGAGAGGGCAGAGGGTGCTGGCTGCCGCCTCCACTGCCGCGGACCAGGGACCCCCTGCGTCCGCCCCGGCCCCTCCCCCACCTTGCTGAGGTCCTCGAAGAAACTGCCAGCCGCTCTGCGGCCGTAGATGGAGCAAGTTGGGGCGGAGACTTTGCCGATGACGCGCGGACCCAAGAGCGAGGGCACCGTATAGGCCGCGGGACCTGGGGAGGAGGCAGGGCTCGGGGGTAGTGGGTCTCCGCGGACAGGCGCAGGGTGGTCCCAGCTCCCGGAGGGCGGTCCCCGGTCTCGAGTGGGAAGGCCCACAGTTCTGGGATGGGCCGTTCTGACCTCACCTGGGCTCTGCT
GAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCGGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCCAGCTGCTGTCCCGACTGAGCCAGGGCCTGGGTCAGCACCGAGGTCTCCTCCAGATCCATGCCCCGAAGTCGGATGGCCATCAGCATGGCCCCTGGTATGTGGGGGTACGCGTGAGGGTGGCAGCCCACAGCGGTGGGGCACCCTGGGGCCGGTGCTGGTAGTGGGGCACCGTCGCACCCCCAGGGACCCAAAGTCTCTCGGGCTGACCTCCCAGTCGGGGTCAGGAACGCCCAACCCTCCCCACGCACCGATCTGTGCGCCCTGCGCGCTCCCATTCACCACAGCGGCCACGAAGCCCCTGATGTCCGCTTCGCTCAGGCGGCCTCCGTCTCGCTTCATGCGGATCAGCTCCGGGAGCTGCTTGGGCTCTGGCGAAGGGTCGGGAAGTCCCTGGCTCCCTTCCCCGGAGAAGTCACCAGGCGCGGGTGGGGCCCCGGTTCCCGGGGTCATCAAGGCTGCCATCGCTCCGGGCCTGCGGGGATGCCTGACACGTCCGGGGTCTGCGGCCTCCCGGCGTCGGTGTCTGAGCCACGTGCTCCTGTCCCGACCCCTTTCCCGTGTCTCTCCGGTGTCCGCCCCTCGGTCCCGTGTCTGTGTCGCCCTCGTCCGTGTCTGCCTCCCGCTTCCCCGCCTCGCGACTTGAGCCCCGCCCGTACCTGCTTAGGGCGCTGCCCTCGCCCGCTTGCTCCGGATCCCAGCCCAGGTACCCGGCCTCGCCCGCGGGTCGGGACCGTAGGGTTCAGGGTTCGCGCACAGCGGTCCACTGCCGGCGGCGGGGCGGCGGCGCCCCAGGACGGCAGGCGGGTGGGGCCGCCTGGAGGGCGGAGCTCGGCAGTCGCCGCCCCCGGGAAGCCTTGCACGCCGCGCCCCGGCCAATCCCCCGGTGCCCCCGGACACGCGGAACTTCCGGGCCGTCGGGGCCCGGGGCCGTCGGCGGGGGTGATCCCTGGCCGGTCCCGCCCGGCGTGGGTCTCGGGCGTCTGTGGCTCCCGAGAGTCCCCCTCCCGCCCTCGGTGGGGTCTCGACGTTCGGACGCGGCGCAGCGCTGGGGTCCCGGCCTCGCCCGACGCTCGGGCCCCGCCCCGCTGGGTTCGGAGTTGGGACACGGCCCCAGCCGTGGCTCCACCCCAGGCCTTGCGCCAGGACGCGCAGAGAGAGAGAGAGAGAGGCGGACACGATGCGGACTCGCAGACTTTAAGCAAACACGTGTGGGGCCGCTCCCGCCTGGCGGGTCAGTTGTCCGCGTCGGTCACCAGCGGGGCCAGGTAGTCCGAGTGCCGGATCCCGAAACTCCAGCCGCGGGGCTTCCGGTGCTGCGGGCCCGGAGACACCGCTGACCTCGCGGGGCCGGCATCCTCTCCGCGCCGGGACCCCTGGACCCCCGGGGACTCTGATCCCATCACTCCGACCTCAGGCCCTCCCCACTCTCCTGACTCTGACCCTTGACCCTGGGCTCCAGGCCACCTGATCCACGTTGTAGGCCGCGGGCCCTGGCTTCCGAGTGTTGTCTTGGGGGAGCGAAGTCCGCGCCAGAATCGTGAACTGGGGGGCCCGGGACTTGTAGACCCCTGGACTCACGACCTGATAGGCGCAGGGGCCCGGGGTCTGCGAGAGGGCAGAGGGTGCTGGCTGCCGCCTCCACTGCCGCGGACCAGGGACCCCCTGCGTCCGCCCCGGCCCCTCCCCCACCTTGCTGAGGTCCTCGAAGAAACTGCCAGCCGCTCTGCGGCCGTAGATGGAGCAAGTTGGGGCGGAGACTTTGCCGATGACGCGCGGACCCAAGAGCGAGGGCACCGTATAGGCCGCGGGACCTGGGGAGGAGGCAGGGCTCGGGGGTAGTGGGTCTCCGCGGACAGGCGCAGGGTGGTCCCAGCTCCCGGAGGGCGGTCCCCGGTCTCGAGTGGGAAGGCCCACAGTTCTGGGATGGGCCGTTCTGACCTCACCTGGGCTCTGCT
Task1_train_28951
A genomic change on Chromosome 22 affects TYMP (thymidine phosphorylase). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Mitochondrial DNA depletion syndrome 1
CAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCCAGCTGCTGTCCCGACTGAGCCAGGGCCTGGGTCAGCACCGAGGTCTCCTCCAGATCCATGCCCCGAAGTCGGATGGCCATCAGCATGGCCCCTGGTATGTGGGGGTACGCGTGAGGGTGGCAGCCCACAGCGGTGGGGCACCCTGGGGCCGGTGCTGGTAGTGGGGCACCGTCGCACCCCCAGGGACCCAAAGTCTCTCGGGCTGACCTCCCAGTCGGGGTCAGGAACGCCCAACCCTCCCCACGCACCGATCTGTGCGCCCTGCGCGCTCCCATTCACCACAGCGGCCACGAAGCCCCTGATGTCCGCTTCGCTCAGGCGGCCTCCGTCTCGCTTCATGCGGATCAGCTCCGGGAGCTGCTTGGGCTCTGGCGAAGGGTCGGGAAGTCCCTGGCTCCCTTCCCCGGAGAAGTCACCAGGCGCGGGTGGGGCCCCGGTTCCCGGGGTCATCAAGGCTGCCATCGCTCCGGGCCTGCGGGGATGCCTGACACGTCCGGGGTCTGCGGCCTCCCGGCGTCGGTGTCTGAGCCACGTGCTCCTGTCCCGACCCCTTTCCCGTGTCTCTCCGGTGTCCGCCCCTCGGTCCCGTGTCTGTGTCGCCCTCGTCCGTGTCTGCCTCCCGCTTCCCCGCCTCGCGACTTGAGCCCCGCCCGTACCTGCTTAGGGCGCTGCCCTCGCCCGCTTGCTCCGGATCCCAGCCCAGGTACCCGGCCTCGCCCGCGGGTCGGGACCGTAGGGTTCAGGGTTCGCGCACAGCGGTCCACTGCCGGCGGCGGGGCGGCGGCGCCCCAGGACGGCAGGCGGGTGGGGCCGCCTGGAGGGCGGAGCTCGGCAGTCGCCGCCCCCGGGAAGCCTTGCACGCCGCGCCCCGGCCAATCCCCCGGTGCCCCCGGACACGCGGAACTTCCGGGCCGTCGGGGCCCGGGGCCGTCGGCGGGGGTGATCCCTGGCCGGTCCCGCCCGGCGTGGGTCTCGGGCGTCTGTGGCTCCCGAGAGTCCCCCTCCCGCCCTCGGTGGGGTCTCGACGTTCGGACGCGGCGCAGCGCTGGGGTCCCGGCCTCGCCCGACGCTCGGGCCCCGCCCCGCTGGGTTCGGAGTTGGGACACGGCCCCAGCCGTGGCTCCACCCCAGGCCTTGCGCCAGGACGCGCAGAGAGAGAGAGAGAGAGGCGGACACGATGCGGACTCGCAGACTTTAAGCAAACACGTGTGGGGCCGCTCCCGCCTGGCGGGTCAGTTGTCCGCGTCGGTCACCAGCGGGGCCAGGTAGTCCGAGTGCCGGATCCCGAAACTCCAGCCGCGGGGCTTCCGGTGCTGCGGGCCCGGAGACACCGCTGACCTCGCGGGGCCGGCATCCTCTCCGCGCCGGGACCCCTGGACCCCCGGGGACTCTGATCCCATCACTCCGACCTCAGGCCCTCCCCACTCTCCTGACTCTGACCCTTGACCCTGGGCTCCAGGCCACCTGATCCACGTTGTAGGCCGCGGGCCCTGGCTTCCGAGTGTTGTCTTGGGGGAGCGAAGTCCGCGCCAGAATCGTGAACTGGGGGGCCCGGGACTTGTAGACCCCTGGACTCACGACCTGATAGGCGCAGGGGCCCGGGGTCTGCGAGAGGGCAGAGGGTGCTGGCTGCCGCCTCCACTGCCGCGGACCAGGGACCCCCTGCGTCCGCCCCGGCCCCTCCCCCACCTTGCTGAGGTCCTCGAAGAAACTGCCAGCCGCTCTGCGGCCGTAGATGGAGCAAGTTGGGGCGGAGACTTTGCCGATGACGCGCGGACCCAAGAGCGAGGGCACCGTATAGGCCGCGGGACCTGGGGAGGAGGCAGGGCTCGGGGGTAGTGGGTCTCCGCGGACAGGCGCAGGGTGGTCCCAGCTCCCGGAGGGCGGTCCCCGGTCTCGAGTGGGAAGGCCCACAGTTCTGGGATGGGCCGTTCTGACCTCACCTGGGCTCTGCTGTTCCGCCTGGACACCCCAGTTTCGGGGAGCAATGGTGTGCCGAGGCGCACTGGGGTA
CAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTTCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCCAGCTGCTGTCCCGACTGAGCCAGGGCCTGGGTCAGCACCGAGGTCTCCTCCAGATCCATGCCCCGAAGTCGGATGGCCATCAGCATGGCCCCTGGTATGTGGGGGTACGCGTGAGGGTGGCAGCCCACAGCGGTGGGGCACCCTGGGGCCGGTGCTGGTAGTGGGGCACCGTCGCACCCCCAGGGACCCAAAGTCTCTCGGGCTGACCTCCCAGTCGGGGTCAGGAACGCCCAACCCTCCCCACGCACCGATCTGTGCGCCCTGCGCGCTCCCATTCACCACAGCGGCCACGAAGCCCCTGATGTCCGCTTCGCTCAGGCGGCCTCCGTCTCGCTTCATGCGGATCAGCTCCGGGAGCTGCTTGGGCTCTGGCGAAGGGTCGGGAAGTCCCTGGCTCCCTTCCCCGGAGAAGTCACCAGGCGCGGGTGGGGCCCCGGTTCCCGGGGTCATCAAGGCTGCCATCGCTCCGGGCCTGCGGGGATGCCTGACACGTCCGGGGTCTGCGGCCTCCCGGCGTCGGTGTCTGAGCCACGTGCTCCTGTCCCGACCCCTTTCCCGTGTCTCTCCGGTGTCCGCCCCTCGGTCCCGTGTCTGTGTCGCCCTCGTCCGTGTCTGCCTCCCGCTTCCCCGCCTCGCGACTTGAGCCCCGCCCGTACCTGCTTAGGGCGCTGCCCTCGCCCGCTTGCTCCGGATCCCAGCCCAGGTACCCGGCCTCGCCCGCGGGTCGGGACCGTAGGGTTCAGGGTTCGCGCACAGCGGTCCACTGCCGGCGGCGGGGCGGCGGCGCCCCAGGACGGCAGGCGGGTGGGGCCGCCTGGAGGGCGGAGCTCGGCAGTCGCCGCCCCCGGGAAGCCTTGCACGCCGCGCCCCGGCCAATCCCCCGGTGCCCCCGGACACGCGGAACTTCCGGGCCGTCGGGGCCCGGGGCCGTCGGCGGGGGTGATCCCTGGCCGGTCCCGCCCGGCGTGGGTCTCGGGCGTCTGTGGCTCCCGAGAGTCCCCCTCCCGCCCTCGGTGGGGTCTCGACGTTCGGACGCGGCGCAGCGCTGGGGTCCCGGCCTCGCCCGACGCTCGGGCCCCGCCCCGCTGGGTTCGGAGTTGGGACACGGCCCCAGCCGTGGCTCCACCCCAGGCCTTGCGCCAGGACGCGCAGAGAGAGAGAGAGAGAGGCGGACACGATGCGGACTCGCAGACTTTAAGCAAACACGTGTGGGGCCGCTCCCGCCTGGCGGGTCAGTTGTCCGCGTCGGTCACCAGCGGGGCCAGGTAGTCCGAGTGCCGGATCCCGAAACTCCAGCCGCGGGGCTTCCGGTGCTGCGGGCCCGGAGACACCGCTGACCTCGCGGGGCCGGCATCCTCTCCGCGCCGGGACCCCTGGACCCCCGGGGACTCTGATCCCATCACTCCGACCTCAGGCCCTCCCCACTCTCCTGACTCTGACCCTTGACCCTGGGCTCCAGGCCACCTGATCCACGTTGTAGGCCGCGGGCCCTGGCTTCCGAGTGTTGTCTTGGGGGAGCGAAGTCCGCGCCAGAATCGTGAACTGGGGGGCCCGGGACTTGTAGACCCCTGGACTCACGACCTGATAGGCGCAGGGGCCCGGGGTCTGCGAGAGGGCAGAGGGTGCTGGCTGCCGCCTCCACTGCCGCGGACCAGGGACCCCCTGCGTCCGCCCCGGCCCCTCCCCCACCTTGCTGAGGTCCTCGAAGAAACTGCCAGCCGCTCTGCGGCCGTAGATGGAGCAAGTTGGGGCGGAGACTTTGCCGATGACGCGCGGACCCAAGAGCGAGGGCACCGTATAGGCCGCGGGACCTGGGGAGGAGGCAGGGCTCGGGGGTAGTGGGTCTCCGCGGACAGGCGCAGGGTGGTCCCAGCTCCCGGAGGGCGGTCCCCGGTCTCGAGTGGGAAGGCCCACAGTTCTGGGATGGGCCGTTCTGACCTCACCTGGGCTCTGCTGTTCCGCCTGGACACCCCAGTTTCGGGGAGCAATGGTGTGCCGAGGCGCACTGGGGTA
Task1_train_28952
A genetic alteration is present in LOC130067864, TYMP (ATAC-STARR-seq lymphoblastoid active region 19325| thymidine phosphorylase) on Chromosome 22. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Mitochondrial DNA depletion syndrome 1
CGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCCAGCTGCTGTCCCGACTGAGCCAGGGCCTGGGTCAGCACCGAGGTCTCCTCCAGATCCATGCCCCGAAGTCGGATGGCCATCAGCATGGCCCCTGGTATGTGGGGGTACGCGTGAGGGTGGCAGCCCACAGCGGTGGGGCACCCTGGGGCCGGTGCTGGTAGTGGGGCACCGTCGCACCCCCAGGGACCCAAAGTCTCTCGGGCTGACCTCCCAGTCGGGGTCAGGAACGCCCAACCCTCCCCACGCACCGATCTGTGCGCCCTGCGCGCTCCCATTCACCACAGCGGCCACGAAGCCCCTGATGTCCGCTTCGCTCAGGCGGCCTCCGTCTCGCTTCATGCGGATCAGCTCCGGGAGCTGCTTGGGCTCTGGCGAAGGGTCGGGAAGTCCCTGGCTCCCTTCCCCGGAGAAGTCACCAGGCGCGGGTGGGGCCCCGGTTCCCGGGGTCATCAAGGCTGCCATCGCTCCGGGCCTGCGGGGATGCCTGACACGTCCGGGGTCTGCGGCCTCCCGGCGTCGGTGTCTGAGCCACGTGCTCCTGTCCCGACCCCTTTCCCGTGTCTCTCCGGTGTCCGCCCCTCGGTCCCGTGTCTGTGTCGCCCTCGTCCGTGTCTGCCTCCCGCTTCCCCGCCTCGCGACTTGAGCCCCGCCCGTACCTGCTTAGGGCGCTGCCCTCGCCCGCTTGCTCCGGATCCCAGCCCAGGTACCCGGCCTCGCCCGCGGGTCGGGACCGTAGGGTTCAGGGTTCGCGCACAGCGGTCCACTGCCGGCGGCGGGGCGGCGGCGCCCCAGGACGGCAGGCGGGTGGGGCCGCCTGGAGGGCGGAGCTCGGCAGTCGCCGCCCCCGGGAAGCCTTGCACGCCGCGCCCCGGCCAATCCCCCGGTGCCCCCGGACACGCGGAACTTCCGGGCCGTCGGGGCCCGGGGCCGTCGGCGGGGGTGATCCCTGGCCGGTCCCGCCCGGCGTGGGTCTCGGGCGTCTGTGGCTCCCGAGAGTCCCCCTCCCGCCCTCGGTGGGGTCTCGACGTTCGGACGCGGCGCAGCGCTGGGGTCCCGGCCTCGCCCGACGCTCGGGCCCCGCCCCGCTGGGTTCGGAGTTGGGACACGGCCCCAGCCGTGGCTCCACCCCAGGCCTTGCGCCAGGACGCGCAGAGAGAGAGAGAGAGAGGCGGACACGATGCGGACTCGCAGACTTTAAGCAAACACGTGTGGGGCCGCTCCCGCCTGGCGGGTCAGTTGTCCGCGTCGGTCACCAGCGGGGCCAGGTAGTCCGAGTGCCGGATCCCGAAACTCCAGCCGCGGGGCTTCCGGTGCTGCGGGCCCGGAGACACCGCTGACCTCGCGGGGCCGGCATCCTCTCCGCGCCGGGACCCCTGGACCCCCGGGGACTCTGATCCCATCACTCCGACCTCAGGCCCTCCCCACTCTCCTGACTCTGACCCTTGACCCTGGGCTCCAGGCCACCTGATCCACGTTGTAGGCCGCGGGCCCTGGCTTCCGAGTGTTGTCTTGGGGGAGCGAAGTCCGCGCCAGAATCGTGAACTGGGGGGCCCGGGACTTGTAGACCCCTGGACTCACGACCTGATAGGCGCAGGGGCCCGGGGTCTGCGAGAGGGCAGAGGGTGCTGGCTGCCGCCTCCACTGCCGCGGACCAGGGACCCCCTGCGTCCGCCCCGGCCCCTCCCCCACCTTGCTGAGGTCCTCGAAGAAACTGCCAGCCGCTCTGCGGCCGTAGATGGAGCAAGTTGGGGCGGAGACTTTGCCGATGACGCGCGGACCCAAGAGCGAGGGCACCGTATAGGCCGCGGGACCTGGGGAGGAGGCAGGGCTCGGGGGTAGTGGGTCTCCGCGGACAGGCGCAGGGTGGTCCCAGCTCCCGGAGGGCGGTCCCCGGTCTCGAGTGGGAAGGCCCACAGTTCTGGGATGGGCCGTTCTGACCTCACCTGGGCTCTGCTGTTCCGCCTGGACACCCCAGTTTCGGGGAGCAATGGTGTGCCGAGGCGCACTGGGGTACGTCGCGTTCCCCGCTCGCTCCGGGAAGTACCTGCCTGCGGGGCGGATCAAGGGTGTGGGGGGCT
CGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCCAGCTGCTGTCCCGACTGAGCCAGGGCCTGGTTCAGCACCGAGGTCTCCTCCAGATCCATGCCCCGAAGTCGGATGGCCATCAGCATGGCCCCTGGTATGTGGGGGTACGCGTGAGGGTGGCAGCCCACAGCGGTGGGGCACCCTGGGGCCGGTGCTGGTAGTGGGGCACCGTCGCACCCCCAGGGACCCAAAGTCTCTCGGGCTGACCTCCCAGTCGGGGTCAGGAACGCCCAACCCTCCCCACGCACCGATCTGTGCGCCCTGCGCGCTCCCATTCACCACAGCGGCCACGAAGCCCCTGATGTCCGCTTCGCTCAGGCGGCCTCCGTCTCGCTTCATGCGGATCAGCTCCGGGAGCTGCTTGGGCTCTGGCGAAGGGTCGGGAAGTCCCTGGCTCCCTTCCCCGGAGAAGTCACCAGGCGCGGGTGGGGCCCCGGTTCCCGGGGTCATCAAGGCTGCCATCGCTCCGGGCCTGCGGGGATGCCTGACACGTCCGGGGTCTGCGGCCTCCCGGCGTCGGTGTCTGAGCCACGTGCTCCTGTCCCGACCCCTTTCCCGTGTCTCTCCGGTGTCCGCCCCTCGGTCCCGTGTCTGTGTCGCCCTCGTCCGTGTCTGCCTCCCGCTTCCCCGCCTCGCGACTTGAGCCCCGCCCGTACCTGCTTAGGGCGCTGCCCTCGCCCGCTTGCTCCGGATCCCAGCCCAGGTACCCGGCCTCGCCCGCGGGTCGGGACCGTAGGGTTCAGGGTTCGCGCACAGCGGTCCACTGCCGGCGGCGGGGCGGCGGCGCCCCAGGACGGCAGGCGGGTGGGGCCGCCTGGAGGGCGGAGCTCGGCAGTCGCCGCCCCCGGGAAGCCTTGCACGCCGCGCCCCGGCCAATCCCCCGGTGCCCCCGGACACGCGGAACTTCCGGGCCGTCGGGGCCCGGGGCCGTCGGCGGGGGTGATCCCTGGCCGGTCCCGCCCGGCGTGGGTCTCGGGCGTCTGTGGCTCCCGAGAGTCCCCCTCCCGCCCTCGGTGGGGTCTCGACGTTCGGACGCGGCGCAGCGCTGGGGTCCCGGCCTCGCCCGACGCTCGGGCCCCGCCCCGCTGGGTTCGGAGTTGGGACACGGCCCCAGCCGTGGCTCCACCCCAGGCCTTGCGCCAGGACGCGCAGAGAGAGAGAGAGAGAGGCGGACACGATGCGGACTCGCAGACTTTAAGCAAACACGTGTGGGGCCGCTCCCGCCTGGCGGGTCAGTTGTCCGCGTCGGTCACCAGCGGGGCCAGGTAGTCCGAGTGCCGGATCCCGAAACTCCAGCCGCGGGGCTTCCGGTGCTGCGGGCCCGGAGACACCGCTGACCTCGCGGGGCCGGCATCCTCTCCGCGCCGGGACCCCTGGACCCCCGGGGACTCTGATCCCATCACTCCGACCTCAGGCCCTCCCCACTCTCCTGACTCTGACCCTTGACCCTGGGCTCCAGGCCACCTGATCCACGTTGTAGGCCGCGGGCCCTGGCTTCCGAGTGTTGTCTTGGGGGAGCGAAGTCCGCGCCAGAATCGTGAACTGGGGGGCCCGGGACTTGTAGACCCCTGGACTCACGACCTGATAGGCGCAGGGGCCCGGGGTCTGCGAGAGGGCAGAGGGTGCTGGCTGCCGCCTCCACTGCCGCGGACCAGGGACCCCCTGCGTCCGCCCCGGCCCCTCCCCCACCTTGCTGAGGTCCTCGAAGAAACTGCCAGCCGCTCTGCGGCCGTAGATGGAGCAAGTTGGGGCGGAGACTTTGCCGATGACGCGCGGACCCAAGAGCGAGGGCACCGTATAGGCCGCGGGACCTGGGGAGGAGGCAGGGCTCGGGGGTAGTGGGTCTCCGCGGACAGGCGCAGGGTGGTCCCAGCTCCCGGAGGGCGGTCCCCGGTCTCGAGTGGGAAGGCCCACAGTTCTGGGATGGGCCGTTCTGACCTCACCTGGGCTCTGCTGTTCCGCCTGGACACCCCAGTTTCGGGGAGCAATGGTGTGCCGAGGCGCACTGGGGTACGTCGCGTTCCCCGCTCGCTCCGGGAAGTACCTGCCTGCGGGGCGGATCAAGGGTGTGGGGGGCT
Task1_train_28953
A genetic alteration is present in LOC130067864, TYMP (ATAC-STARR-seq lymphoblastoid active region 19325| thymidine phosphorylase) on Chromosome 22. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Mitochondrial DNA depletion syndrome 1
GCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCCAGCTGCTGTCCCGACTGAGCCAGGGCCTGGGTCAGCACCGAGGTCTCCTCCAGATCCATGCCCCGAAGTCGGATGGCCATCAGCATGGCCCCTGGTATGTGGGGGTACGCGTGAGGGTGGCAGCCCACAGCGGTGGGGCACCCTGGGGCCGGTGCTGGTAGTGGGGCACCGTCGCACCCCCAGGGACCCAAAGTCTCTCGGGCTGACCTCCCAGTCGGGGTCAGGAACGCCCAACCCTCCCCACGCACCGATCTGTGCGCCCTGCGCGCTCCCATTCACCACAGCGGCCACGAAGCCCCTGATGTCCGCTTCGCTCAGGCGGCCTCCGTCTCGCTTCATGCGGATCAGCTCCGGGAGCTGCTTGGGCTCTGGCGAAGGGTCGGGAAGTCCCTGGCTCCCTTCCCCGGAGAAGTCACCAGGCGCGGGTGGGGCCCCGGTTCCCGGGGTCATCAAGGCTGCCATCGCTCCGGGCCTGCGGGGATGCCTGACACGTCCGGGGTCTGCGGCCTCCCGGCGTCGGTGTCTGAGCCACGTGCTCCTGTCCCGACCCCTTTCCCGTGTCTCTCCGGTGTCCGCCCCTCGGTCCCGTGTCTGTGTCGCCCTCGTCCGTGTCTGCCTCCCGCTTCCCCGCCTCGCGACTTGAGCCCCGCCCGTACCTGCTTAGGGCGCTGCCCTCGCCCGCTTGCTCCGGATCCCAGCCCAGGTACCCGGCCTCGCCCGCGGGTCGGGACCGTAGGGTTCAGGGTTCGCGCACAGCGGTCCACTGCCGGCGGCGGGGCGGCGGCGCCCCAGGACGGCAGGCGGGTGGGGCCGCCTGGAGGGCGGAGCTCGGCAGTCGCCGCCCCCGGGAAGCCTTGCACGCCGCGCCCCGGCCAATCCCCCGGTGCCCCCGGACACGCGGAACTTCCGGGCCGTCGGGGCCCGGGGCCGTCGGCGGGGGTGATCCCTGGCCGGTCCCGCCCGGCGTGGGTCTCGGGCGTCTGTGGCTCCCGAGAGTCCCCCTCCCGCCCTCGGTGGGGTCTCGACGTTCGGACGCGGCGCAGCGCTGGGGTCCCGGCCTCGCCCGACGCTCGGGCCCCGCCCCGCTGGGTTCGGAGTTGGGACACGGCCCCAGCCGTGGCTCCACCCCAGGCCTTGCGCCAGGACGCGCAGAGAGAGAGAGAGAGAGGCGGACACGATGCGGACTCGCAGACTTTAAGCAAACACGTGTGGGGCCGCTCCCGCCTGGCGGGTCAGTTGTCCGCGTCGGTCACCAGCGGGGCCAGGTAGTCCGAGTGCCGGATCCCGAAACTCCAGCCGCGGGGCTTCCGGTGCTGCGGGCCCGGAGACACCGCTGACCTCGCGGGGCCGGCATCCTCTCCGCGCCGGGACCCCTGGACCCCCGGGGACTCTGATCCCATCACTCCGACCTCAGGCCCTCCCCACTCTCCTGACTCTGACCCTTGACCCTGGGCTCCAGGCCACCTGATCCACGTTGTAGGCCGCGGGCCCTGGCTTCCGAGTGTTGTCTTGGGGGAGCGAAGTCCGCGCCAGAATCGTGAACTGGGGGGCCCGGGACTTGTAGACCCCTGGACTCACGACCTGATAGGCGCAGGGGCCCGGGGTCTGCGAGAGGGCAGAGGGTGCTGGCTGCCGCCTCCACTGCCGCGGACCAGGGACCCCCTGCGTCCGCCCCGGCCCCTCCCCCACCTTGCTGAGGTCCTCGAAGAAACTGCCAGCCGCTCTGCGGCCGTAGATGGAGCAAGTTGGGGCGGAGACTTTGCCGATGACGCGCGGACCCAAGAGCGAGGGCACCGTATAGGCCGCGGGACCTGGGGAGGAGGCAGGGCTCGGGGGTAGTGGGTCTCCGCGGACAGGCGCAGGGTGGTCCCAGCTCCCGGAGGGCGGTCCCCGGTCTCGAGTGGGAAGGCCCACAGTTCTGGGATGGGCCGTTCTGACCTCACCTGGGCTCTGCTGTTCCGCCTGGACACCCCAGTTTCGGGGAGCAATGGTGTGCCGAGGCGCACTGGGGTACGTCGCGTTCCCCGCTCGCTCCGGGAAGTACCTGCCTGCGGGGCGGATCAAGGGTGTGGGGGGCTAGAACTGCGTGGGA
GCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCCAGCTGCTGTCCCGACTGAGCCAGGGCCTGGGTCAGCACCGAGGTATCCTCCAGATCCATGCCCCGAAGTCGGATGGCCATCAGCATGGCCCCTGGTATGTGGGGGTACGCGTGAGGGTGGCAGCCCACAGCGGTGGGGCACCCTGGGGCCGGTGCTGGTAGTGGGGCACCGTCGCACCCCCAGGGACCCAAAGTCTCTCGGGCTGACCTCCCAGTCGGGGTCAGGAACGCCCAACCCTCCCCACGCACCGATCTGTGCGCCCTGCGCGCTCCCATTCACCACAGCGGCCACGAAGCCCCTGATGTCCGCTTCGCTCAGGCGGCCTCCGTCTCGCTTCATGCGGATCAGCTCCGGGAGCTGCTTGGGCTCTGGCGAAGGGTCGGGAAGTCCCTGGCTCCCTTCCCCGGAGAAGTCACCAGGCGCGGGTGGGGCCCCGGTTCCCGGGGTCATCAAGGCTGCCATCGCTCCGGGCCTGCGGGGATGCCTGACACGTCCGGGGTCTGCGGCCTCCCGGCGTCGGTGTCTGAGCCACGTGCTCCTGTCCCGACCCCTTTCCCGTGTCTCTCCGGTGTCCGCCCCTCGGTCCCGTGTCTGTGTCGCCCTCGTCCGTGTCTGCCTCCCGCTTCCCCGCCTCGCGACTTGAGCCCCGCCCGTACCTGCTTAGGGCGCTGCCCTCGCCCGCTTGCTCCGGATCCCAGCCCAGGTACCCGGCCTCGCCCGCGGGTCGGGACCGTAGGGTTCAGGGTTCGCGCACAGCGGTCCACTGCCGGCGGCGGGGCGGCGGCGCCCCAGGACGGCAGGCGGGTGGGGCCGCCTGGAGGGCGGAGCTCGGCAGTCGCCGCCCCCGGGAAGCCTTGCACGCCGCGCCCCGGCCAATCCCCCGGTGCCCCCGGACACGCGGAACTTCCGGGCCGTCGGGGCCCGGGGCCGTCGGCGGGGGTGATCCCTGGCCGGTCCCGCCCGGCGTGGGTCTCGGGCGTCTGTGGCTCCCGAGAGTCCCCCTCCCGCCCTCGGTGGGGTCTCGACGTTCGGACGCGGCGCAGCGCTGGGGTCCCGGCCTCGCCCGACGCTCGGGCCCCGCCCCGCTGGGTTCGGAGTTGGGACACGGCCCCAGCCGTGGCTCCACCCCAGGCCTTGCGCCAGGACGCGCAGAGAGAGAGAGAGAGAGGCGGACACGATGCGGACTCGCAGACTTTAAGCAAACACGTGTGGGGCCGCTCCCGCCTGGCGGGTCAGTTGTCCGCGTCGGTCACCAGCGGGGCCAGGTAGTCCGAGTGCCGGATCCCGAAACTCCAGCCGCGGGGCTTCCGGTGCTGCGGGCCCGGAGACACCGCTGACCTCGCGGGGCCGGCATCCTCTCCGCGCCGGGACCCCTGGACCCCCGGGGACTCTGATCCCATCACTCCGACCTCAGGCCCTCCCCACTCTCCTGACTCTGACCCTTGACCCTGGGCTCCAGGCCACCTGATCCACGTTGTAGGCCGCGGGCCCTGGCTTCCGAGTGTTGTCTTGGGGGAGCGAAGTCCGCGCCAGAATCGTGAACTGGGGGGCCCGGGACTTGTAGACCCCTGGACTCACGACCTGATAGGCGCAGGGGCCCGGGGTCTGCGAGAGGGCAGAGGGTGCTGGCTGCCGCCTCCACTGCCGCGGACCAGGGACCCCCTGCGTCCGCCCCGGCCCCTCCCCCACCTTGCTGAGGTCCTCGAAGAAACTGCCAGCCGCTCTGCGGCCGTAGATGGAGCAAGTTGGGGCGGAGACTTTGCCGATGACGCGCGGACCCAAGAGCGAGGGCACCGTATAGGCCGCGGGACCTGGGGAGGAGGCAGGGCTCGGGGGTAGTGGGTCTCCGCGGACAGGCGCAGGGTGGTCCCAGCTCCCGGAGGGCGGTCCCCGGTCTCGAGTGGGAAGGCCCACAGTTCTGGGATGGGCCGTTCTGACCTCACCTGGGCTCTGCTGTTCCGCCTGGACACCCCAGTTTCGGGGAGCAATGGTGTGCCGAGGCGCACTGGGGTACGTCGCGTTCCCCGCTCGCTCCGGGAAGTACCTGCCTGCGGGGCGGATCAAGGGTGTGGGGGGCTAGAACTGCGTGGGA
Task1_train_28954
Located on Chromosome 22, this mutation impacts LOC130067864, TYMP (ATAC-STARR-seq lymphoblastoid active region 19325| thymidine phosphorylase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Mitochondrial DNA depletion syndrome 1
GCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCCAGCTGCTGTCCCGACTGAGCCAGGGCCTGGGTCAGCACCGAGGTCTCCTCCAGATCCATGCCCCGAAGTCGGATGGCCATCAGCATGGCCCCTGGTATGTGGGGGTACGCGTGAGGGTGGCAGCCCACAGCGGTGGGGCACCCTGGGGCCGGTGCTGGTAGTGGGGCACCGTCGCACCCCCAGGGACCCAAAGTCTCTCGGGCTGACCTCCCAGTCGGGGTCAGGAACGCCCAACCCTCCCCACGCACCGATCTGTGCGCCCTGCGCGCTCCCATTCACCACAGCGGCCACGAAGCCCCTGATGTCCGCTTCGCTCAGGCGGCCTCCGTCTCGCTTCATGCGGATCAGCTCCGGGAGCTGCTTGGGCTCTGGCGAAGGGTCGGGAAGTCCCTGGCTCCCTTCCCCGGAGAAGTCACCAGGCGCGGGTGGGGCCCCGGTTCCCGGGGTCATCAAGGCTGCCATCGCTCCGGGCCTGCGGGGATGCCTGACACGTCCGGGGTCTGCGGCCTCCCGGCGTCGGTGTCTGAGCCACGTGCTCCTGTCCCGACCCCTTTCCCGTGTCTCTCCGGTGTCCGCCCCTCGGTCCCGTGTCTGTGTCGCCCTCGTCCGTGTCTGCCTCCCGCTTCCCCGCCTCGCGACTTGAGCCCCGCCCGTACCTGCTTAGGGCGCTGCCCTCGCCCGCTTGCTCCGGATCCCAGCCCAGGTACCCGGCCTCGCCCGCGGGTCGGGACCGTAGGGTTCAGGGTTCGCGCACAGCGGTCCACTGCCGGCGGCGGGGCGGCGGCGCCCCAGGACGGCAGGCGGGTGGGGCCGCCTGGAGGGCGGAGCTCGGCAGTCGCCGCCCCCGGGAAGCCTTGCACGCCGCGCCCCGGCCAATCCCCCGGTGCCCCCGGACACGCGGAACTTCCGGGCCGTCGGGGCCCGGGGCCGTCGGCGGGGGTGATCCCTGGCCGGTCCCGCCCGGCGTGGGTCTCGGGCGTCTGTGGCTCCCGAGAGTCCCCCTCCCGCCCTCGGTGGGGTCTCGACGTTCGGACGCGGCGCAGCGCTGGGGTCCCGGCCTCGCCCGACGCTCGGGCCCCGCCCCGCTGGGTTCGGAGTTGGGACACGGCCCCAGCCGTGGCTCCACCCCAGGCCTTGCGCCAGGACGCGCAGAGAGAGAGAGAGAGAGGCGGACACGATGCGGACTCGCAGACTTTAAGCAAACACGTGTGGGGCCGCTCCCGCCTGGCGGGTCAGTTGTCCGCGTCGGTCACCAGCGGGGCCAGGTAGTCCGAGTGCCGGATCCCGAAACTCCAGCCGCGGGGCTTCCGGTGCTGCGGGCCCGGAGACACCGCTGACCTCGCGGGGCCGGCATCCTCTCCGCGCCGGGACCCCTGGACCCCCGGGGACTCTGATCCCATCACTCCGACCTCAGGCCCTCCCCACTCTCCTGACTCTGACCCTTGACCCTGGGCTCCAGGCCACCTGATCCACGTTGTAGGCCGCGGGCCCTGGCTTCCGAGTGTTGTCTTGGGGGAGCGAAGTCCGCGCCAGAATCGTGAACTGGGGGGCCCGGGACTTGTAGACCCCTGGACTCACGACCTGATAGGCGCAGGGGCCCGGGGTCTGCGAGAGGGCAGAGGGTGCTGGCTGCCGCCTCCACTGCCGCGGACCAGGGACCCCCTGCGTCCGCCCCGGCCCCTCCCCCACCTTGCTGAGGTCCTCGAAGAAACTGCCAGCCGCTCTGCGGCCGTAGATGGAGCAAGTTGGGGCGGAGACTTTGCCGATGACGCGCGGACCCAAGAGCGAGGGCACCGTATAGGCCGCGGGACCTGGGGAGGAGGCAGGGCTCGGGGGTAGTGGGTCTCCGCGGACAGGCGCAGGGTGGTCCCAGCTCCCGGAGGGCGGTCCCCGGTCTCGAGTGGGAAGGCCCACAGTTCTGGGATGGGCCGTTCTGACCTCACCTGGGCTCTGCTGTTCCGCCTGGACACCCCAGTTTCGGGGAGCAATGGTGTGCCGAGGCGCACTGGGGTACGTCGCGTTCCCCGCTCGCTCCGGGAAGTACCTGCCTGCGGGGCGGATCAAGGGTGTGGGGGGCTAGAACTGCGTGGGA
GCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCCAGCTGCTGTCCCGACTGAGCCAGGGCCTGGGTCAGCACCGAGGTGTCCTCCAGATCCATGCCCCGAAGTCGGATGGCCATCAGCATGGCCCCTGGTATGTGGGGGTACGCGTGAGGGTGGCAGCCCACAGCGGTGGGGCACCCTGGGGCCGGTGCTGGTAGTGGGGCACCGTCGCACCCCCAGGGACCCAAAGTCTCTCGGGCTGACCTCCCAGTCGGGGTCAGGAACGCCCAACCCTCCCCACGCACCGATCTGTGCGCCCTGCGCGCTCCCATTCACCACAGCGGCCACGAAGCCCCTGATGTCCGCTTCGCTCAGGCGGCCTCCGTCTCGCTTCATGCGGATCAGCTCCGGGAGCTGCTTGGGCTCTGGCGAAGGGTCGGGAAGTCCCTGGCTCCCTTCCCCGGAGAAGTCACCAGGCGCGGGTGGGGCCCCGGTTCCCGGGGTCATCAAGGCTGCCATCGCTCCGGGCCTGCGGGGATGCCTGACACGTCCGGGGTCTGCGGCCTCCCGGCGTCGGTGTCTGAGCCACGTGCTCCTGTCCCGACCCCTTTCCCGTGTCTCTCCGGTGTCCGCCCCTCGGTCCCGTGTCTGTGTCGCCCTCGTCCGTGTCTGCCTCCCGCTTCCCCGCCTCGCGACTTGAGCCCCGCCCGTACCTGCTTAGGGCGCTGCCCTCGCCCGCTTGCTCCGGATCCCAGCCCAGGTACCCGGCCTCGCCCGCGGGTCGGGACCGTAGGGTTCAGGGTTCGCGCACAGCGGTCCACTGCCGGCGGCGGGGCGGCGGCGCCCCAGGACGGCAGGCGGGTGGGGCCGCCTGGAGGGCGGAGCTCGGCAGTCGCCGCCCCCGGGAAGCCTTGCACGCCGCGCCCCGGCCAATCCCCCGGTGCCCCCGGACACGCGGAACTTCCGGGCCGTCGGGGCCCGGGGCCGTCGGCGGGGGTGATCCCTGGCCGGTCCCGCCCGGCGTGGGTCTCGGGCGTCTGTGGCTCCCGAGAGTCCCCCTCCCGCCCTCGGTGGGGTCTCGACGTTCGGACGCGGCGCAGCGCTGGGGTCCCGGCCTCGCCCGACGCTCGGGCCCCGCCCCGCTGGGTTCGGAGTTGGGACACGGCCCCAGCCGTGGCTCCACCCCAGGCCTTGCGCCAGGACGCGCAGAGAGAGAGAGAGAGAGGCGGACACGATGCGGACTCGCAGACTTTAAGCAAACACGTGTGGGGCCGCTCCCGCCTGGCGGGTCAGTTGTCCGCGTCGGTCACCAGCGGGGCCAGGTAGTCCGAGTGCCGGATCCCGAAACTCCAGCCGCGGGGCTTCCGGTGCTGCGGGCCCGGAGACACCGCTGACCTCGCGGGGCCGGCATCCTCTCCGCGCCGGGACCCCTGGACCCCCGGGGACTCTGATCCCATCACTCCGACCTCAGGCCCTCCCCACTCTCCTGACTCTGACCCTTGACCCTGGGCTCCAGGCCACCTGATCCACGTTGTAGGCCGCGGGCCCTGGCTTCCGAGTGTTGTCTTGGGGGAGCGAAGTCCGCGCCAGAATCGTGAACTGGGGGGCCCGGGACTTGTAGACCCCTGGACTCACGACCTGATAGGCGCAGGGGCCCGGGGTCTGCGAGAGGGCAGAGGGTGCTGGCTGCCGCCTCCACTGCCGCGGACCAGGGACCCCCTGCGTCCGCCCCGGCCCCTCCCCCACCTTGCTGAGGTCCTCGAAGAAACTGCCAGCCGCTCTGCGGCCGTAGATGGAGCAAGTTGGGGCGGAGACTTTGCCGATGACGCGCGGACCCAAGAGCGAGGGCACCGTATAGGCCGCGGGACCTGGGGAGGAGGCAGGGCTCGGGGGTAGTGGGTCTCCGCGGACAGGCGCAGGGTGGTCCCAGCTCCCGGAGGGCGGTCCCCGGTCTCGAGTGGGAAGGCCCACAGTTCTGGGATGGGCCGTTCTGACCTCACCTGGGCTCTGCTGTTCCGCCTGGACACCCCAGTTTCGGGGAGCAATGGTGTGCCGAGGCGCACTGGGGTACGTCGCGTTCCCCGCTCGCTCCGGGAAGTACCTGCCTGCGGGGCGGATCAAGGGTGTGGGGGGCTAGAACTGCGTGGGA
Task1_train_28955
Given this variant in gene TYMP (thymidine phosphorylase) on Chromosome 22, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Mitochondrial DNA depletion syndrome 1
CGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCCAGCTGCTGTCCCGACTGAGCCAGGGCCTGGGTCAGCACCGAGGTCTCCTCCAGATCCATGCCCCGAAGTCGGATGGCCATCAGCATGGCCCCTGGTATGTGGGGGTACGCGTGAGGGTGGCAGCCCACAGCGGTGGGGCACCCTGGGGCCGGTGCTGGTAGTGGGGCACCGTCGCACCCCCAGGGACCCAAAGTCTCTCGGGCTGACCTCCCAGTCGGGGTCAGGAACGCCCAACCCTCCCCACGCACCGATCTGTGCGCCCTGCGCGCTCCCATTCACCACAGCGGCCACGAAGCCCCTGATGTCCGCTTCGCTCAGGCGGCCTCCGTCTCGCTTCATGCGGATCAGCTCCGGGAGCTGCTTGGGCTCTGGCGAAGGGTCGGGAAGTCCCTGGCTCCCTTCCCCGGAGAAGTCACCAGGCGCGGGTGGGGCCCCGGTTCCCGGGGTCATCAAGGCTGCCATCGCTCCGGGCCTGCGGGGATGCCTGACACGTCCGGGGTCTGCGGCCTCCCGGCGTCGGTGTCTGAGCCACGTGCTCCTGTCCCGACCCCTTTCCCGTGTCTCTCCGGTGTCCGCCCCTCGGTCCCGTGTCTGTGTCGCCCTCGTCCGTGTCTGCCTCCCGCTTCCCCGCCTCGCGACTTGAGCCCCGCCCGTACCTGCTTAGGGCGCTGCCCTCGCCCGCTTGCTCCGGATCCCAGCCCAGGTACCCGGCCTCGCCCGCGGGTCGGGACCGTAGGGTTCAGGGTTCGCGCACAGCGGTCCACTGCCGGCGGCGGGGCGGCGGCGCCCCAGGACGGCAGGCGGGTGGGGCCGCCTGGAGGGCGGAGCTCGGCAGTCGCCGCCCCCGGGAAGCCTTGCACGCCGCGCCCCGGCCAATCCCCCGGTGCCCCCGGACACGCGGAACTTCCGGGCCGTCGGGGCCCGGGGCCGTCGGCGGGGGTGATCCCTGGCCGGTCCCGCCCGGCGTGGGTCTCGGGCGTCTGTGGCTCCCGAGAGTCCCCCTCCCGCCCTCGGTGGGGTCTCGACGTTCGGACGCGGCGCAGCGCTGGGGTCCCGGCCTCGCCCGACGCTCGGGCCCCGCCCCGCTGGGTTCGGAGTTGGGACACGGCCCCAGCCGTGGCTCCACCCCAGGCCTTGCGCCAGGACGCGCAGAGAGAGAGAGAGAGAGGCGGACACGATGCGGACTCGCAGACTTTAAGCAAACACGTGTGGGGCCGCTCCCGCCTGGCGGGTCAGTTGTCCGCGTCGGTCACCAGCGGGGCCAGGTAGTCCGAGTGCCGGATCCCGAAACTCCAGCCGCGGGGCTTCCGGTGCTGCGGGCCCGGAGACACCGCTGACCTCGCGGGGCCGGCATCCTCTCCGCGCCGGGACCCCTGGACCCCCGGGGACTCTGATCCCATCACTCCGACCTCAGGCCCTCCCCACTCTCCTGACTCTGACCCTTGACCCTGGGCTCCAGGCCACCTGATCCACGTTGTAGGCCGCGGGCCCTGGCTTCCGAGTGTTGTCTTGGGGGAGCGAAGTCCGCGCCAGAATCGTGAACTGGGGGGCCCGGGACTTGTAGACCCCTGGACTCACGACCTGATAGGCGCAGGGGCCCGGGGTCTGCGAGAGGGCAGAGGGTGCTGGCTGCCGCCTCCACTGCCGCGGACCAGGGACCCCCTGCGTCCGCCCCGGCCCCTCCCCCACCTTGCTGAGGTCCTCGAAGAAACTGCCAGCCGCTCTGCGGCCGTAGATGGAGCAAGTTGGGGCGGAGACTTTGCCGATGACGCGCGGACCCAAGAGCGAGGGCACCGTATAGGCCGCGGGACCTGGGGAGGAGGCAGGGCTCGGGGGTAGTGGGTCTCCGCGGACAGGCGCAGGGTGGTCCCAGCTCCCGGAGGGCGGTCCCCGGTCTCGAGTGGGAAGGCCCACAGTTCTGGGATGGGCCGTTCTGACCTCACCTGGGCTCTGCTGTTCCGCCTGGACACCCCAGTTTCGGGGAGCAATGGTGTGCCGAGGCGCACTGGGGTACGTCGCGTTCCCCGCTCGCTCCGGGAAGTACCTGCCTGCGGGGCGGATCAAGGGTGTGGGGGGCTAGAACTGCGTGGGAGCCTGGTGGGTACCCGAGATGGGGTCCTGGGACTAGTGGGGAGTCTGAGCCACGATTTATCAAAGCCCCGTGGGGTTCGGGGTTTGGGATTTGAGATCCGGATATGGGGGTACCGAATATGCGGTGTTAGGGTATCCGAGGGGGACTCGGGGTTCAGGTCGGGGGTTCCCAGGTGGGCCTCCCTGGAGGCAGTTCGGCGTTGGGGTGGCCAGGGGCCCGGGGGTCCTGACCAGGTCCCGGAGTGAGGAAGGGCGCT
CGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCCAGCTGCTGTCCCGACTGAGCCAGGGCCTGGGTCAGCACCGAGGTCTCCTCCAGATCCATGCCCCGAAGTCGGATGGCCATCAGCATGGCCCCTGGTATGTGGGGGTACGCGTGAGGGTGGCAGCCCACAGCGGTGGGGCACCCTGGGGCCGGTGCTGGTAGTGGGGCACCGTCGCACCCCCAGGGACCCAAAGTCTCTCGGGCTGACCTCCCAGTCGGGGTCAGGAACGCCCAACCCTCCCCACGCACCGATCTGTGCGCCCTGCGCGCTCCCATTCACCACAGCGGCCACGAAGCCCCTCATGTCCGCTTCGCTCAGGCGGCCTCCGTCTCGCTTCATGCGGATCAGCTCCGGGAGCTGCTTGGGCTCTGGCGAAGGGTCGGGAAGTCCCTGGCTCCCTTCCCCGGAGAAGTCACCAGGCGCGGGTGGGGCCCCGGTTCCCGGGGTCATCAAGGCTGCCATCGCTCCGGGCCTGCGGGGATGCCTGACACGTCCGGGGTCTGCGGCCTCCCGGCGTCGGTGTCTGAGCCACGTGCTCCTGTCCCGACCCCTTTCCCGTGTCTCTCCGGTGTCCGCCCCTCGGTCCCGTGTCTGTGTCGCCCTCGTCCGTGTCTGCCTCCCGCTTCCCCGCCTCGCGACTTGAGCCCCGCCCGTACCTGCTTAGGGCGCTGCCCTCGCCCGCTTGCTCCGGATCCCAGCCCAGGTACCCGGCCTCGCCCGCGGGTCGGGACCGTAGGGTTCAGGGTTCGCGCACAGCGGTCCACTGCCGGCGGCGGGGCGGCGGCGCCCCAGGACGGCAGGCGGGTGGGGCCGCCTGGAGGGCGGAGCTCGGCAGTCGCCGCCCCCGGGAAGCCTTGCACGCCGCGCCCCGGCCAATCCCCCGGTGCCCCCGGACACGCGGAACTTCCGGGCCGTCGGGGCCCGGGGCCGTCGGCGGGGGTGATCCCTGGCCGGTCCCGCCCGGCGTGGGTCTCGGGCGTCTGTGGCTCCCGAGAGTCCCCCTCCCGCCCTCGGTGGGGTCTCGACGTTCGGACGCGGCGCAGCGCTGGGGTCCCGGCCTCGCCCGACGCTCGGGCCCCGCCCCGCTGGGTTCGGAGTTGGGACACGGCCCCAGCCGTGGCTCCACCCCAGGCCTTGCGCCAGGACGCGCAGAGAGAGAGAGAGAGAGGCGGACACGATGCGGACTCGCAGACTTTAAGCAAACACGTGTGGGGCCGCTCCCGCCTGGCGGGTCAGTTGTCCGCGTCGGTCACCAGCGGGGCCAGGTAGTCCGAGTGCCGGATCCCGAAACTCCAGCCGCGGGGCTTCCGGTGCTGCGGGCCCGGAGACACCGCTGACCTCGCGGGGCCGGCATCCTCTCCGCGCCGGGACCCCTGGACCCCCGGGGACTCTGATCCCATCACTCCGACCTCAGGCCCTCCCCACTCTCCTGACTCTGACCCTTGACCCTGGGCTCCAGGCCACCTGATCCACGTTGTAGGCCGCGGGCCCTGGCTTCCGAGTGTTGTCTTGGGGGAGCGAAGTCCGCGCCAGAATCGTGAACTGGGGGGCCCGGGACTTGTAGACCCCTGGACTCACGACCTGATAGGCGCAGGGGCCCGGGGTCTGCGAGAGGGCAGAGGGTGCTGGCTGCCGCCTCCACTGCCGCGGACCAGGGACCCCCTGCGTCCGCCCCGGCCCCTCCCCCACCTTGCTGAGGTCCTCGAAGAAACTGCCAGCCGCTCTGCGGCCGTAGATGGAGCAAGTTGGGGCGGAGACTTTGCCGATGACGCGCGGACCCAAGAGCGAGGGCACCGTATAGGCCGCGGGACCTGGGGAGGAGGCAGGGCTCGGGGGTAGTGGGTCTCCGCGGACAGGCGCAGGGTGGTCCCAGCTCCCGGAGGGCGGTCCCCGGTCTCGAGTGGGAAGGCCCACAGTTCTGGGATGGGCCGTTCTGACCTCACCTGGGCTCTGCTGTTCCGCCTGGACACCCCAGTTTCGGGGAGCAATGGTGTGCCGAGGCGCACTGGGGTACGTCGCGTTCCCCGCTCGCTCCGGGAAGTACCTGCCTGCGGGGCGGATCAAGGGTGTGGGGGGCTAGAACTGCGTGGGAGCCTGGTGGGTACCCGAGATGGGGTCCTGGGACTAGTGGGGAGTCTGAGCCACGATTTATCAAAGCCCCGTGGGGTTCGGGGTTTGGGATTTGAGATCCGGATATGGGGGTACCGAATATGCGGTGTTAGGGTATCCGAGGGGGACTCGGGGTTCAGGTCGGGGGTTCCCAGGTGGGCCTCCCTGGAGGCAGTTCGGCGTTGGGGTGGCCAGGGGCCCGGGGGTCCTGACCAGGTCCCGGAGTGAGGAAGGGCGCT
Task1_train_28956
Here’s a variant in TYMP (thymidine phosphorylase) located on Chromosome 22. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Mitochondrial DNA depletion syndrome 1
AGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCCAGCTGCTGTCCCGACTGAGCCAGGGCCTGGGTCAGCACCGAGGTCTCCTCCAGATCCATGCCCCGAAGTCGGATGGCCATCAGCATGGCCCCTGGTATGTGGGGGTACGCGTGAGGGTGGCAGCCCACAGCGGTGGGGCACCCTGGGGCCGGTGCTGGTAGTGGGGCACCGTCGCACCCCCAGGGACCCAAAGTCTCTCGGGCTGACCTCCCAGTCGGGGTCAGGAACGCCCAACCCTCCCCACGCACCGATCTGTGCGCCCTGCGCGCTCCCATTCACCACAGCGGCCACGAAGCCCCTGATGTCCGCTTCGCTCAGGCGGCCTCCGTCTCGCTTCATGCGGATCAGCTCCGGGAGCTGCTTGGGCTCTGGCGAAGGGTCGGGAAGTCCCTGGCTCCCTTCCCCGGAGAAGTCACCAGGCGCGGGTGGGGCCCCGGTTCCCGGGGTCATCAAGGCTGCCATCGCTCCGGGCCTGCGGGGATGCCTGACACGTCCGGGGTCTGCGGCCTCCCGGCGTCGGTGTCTGAGCCACGTGCTCCTGTCCCGACCCCTTTCCCGTGTCTCTCCGGTGTCCGCCCCTCGGTCCCGTGTCTGTGTCGCCCTCGTCCGTGTCTGCCTCCCGCTTCCCCGCCTCGCGACTTGAGCCCCGCCCGTACCTGCTTAGGGCGCTGCCCTCGCCCGCTTGCTCCGGATCCCAGCCCAGGTACCCGGCCTCGCCCGCGGGTCGGGACCGTAGGGTTCAGGGTTCGCGCACAGCGGTCCACTGCCGGCGGCGGGGCGGCGGCGCCCCAGGACGGCAGGCGGGTGGGGCCGCCTGGAGGGCGGAGCTCGGCAGTCGCCGCCCCCGGGAAGCCTTGCACGCCGCGCCCCGGCCAATCCCCCGGTGCCCCCGGACACGCGGAACTTCCGGGCCGTCGGGGCCCGGGGCCGTCGGCGGGGGTGATCCCTGGCCGGTCCCGCCCGGCGTGGGTCTCGGGCGTCTGTGGCTCCCGAGAGTCCCCCTCCCGCCCTCGGTGGGGTCTCGACGTTCGGACGCGGCGCAGCGCTGGGGTCCCGGCCTCGCCCGACGCTCGGGCCCCGCCCCGCTGGGTTCGGAGTTGGGACACGGCCCCAGCCGTGGCTCCACCCCAGGCCTTGCGCCAGGACGCGCAGAGAGAGAGAGAGAGAGGCGGACACGATGCGGACTCGCAGACTTTAAGCAAACACGTGTGGGGCCGCTCCCGCCTGGCGGGTCAGTTGTCCGCGTCGGTCACCAGCGGGGCCAGGTAGTCCGAGTGCCGGATCCCGAAACTCCAGCCGCGGGGCTTCCGGTGCTGCGGGCCCGGAGACACCGCTGACCTCGCGGGGCCGGCATCCTCTCCGCGCCGGGACCCCTGGACCCCCGGGGACTCTGATCCCATCACTCCGACCTCAGGCCCTCCCCACTCTCCTGACTCTGACCCTTGACCCTGGGCTCCAGGCCACCTGATCCACGTTGTAGGCCGCGGGCCCTGGCTTCCGAGTGTTGTCTTGGGGGAGCGAAGTCCGCGCCAGAATCGTGAACTGGGGGGCCCGGGACTTGTAGACCCCTGGACTCACGACCTGATAGGCGCAGGGGCCCGGGGTCTGCGAGAGGGCAGAGGGTGCTGGCTGCCGCCTCCACTGCCGCGGACCAGGGACCCCCTGCGTCCGCCCCGGCCCCTCCCCCACCTTGCTGAGGTCCTCGAAGAAACTGCCAGCCGCTCTGCGGCCGTAGATGGAGCAAGTTGGGGCGGAGACTTTGCCGATGACGCGCGGACCCAAGAGCGAGGGCACCGTATAGGCCGCGGGACCTGGGGAGGAGGCAGGGCTCGGGGGTAGTGGGTCTCCGCGGACAGGCGCAGGGTGGTCCCAGCTCCCGGAGGGCGGTCCCCGGTCTCGAGTGGGAAGGCCCACAGTTCTGGGATGGGCCGTTCTGACCTCACCTGGGCTCTGCTGTTCCGCCTGGACACCCCAGTTTCGGGGAGCAATGGTGTGCCGAGGCGCACTGGGGTACGTCGCGTTCCCCGCTCGCTCCGGGAAGTACCTGCCTGCGGGGCGGATCAAGGGTGTGGGGGGCTAGAACTGCGTGGGAGCCTGGTGGGTACCCGAGATGGGGTCCTGGGACTAGTGGGGAGTCTGAGCCACGATTTATCAAAGCCCCGTGGGGTTCGGGGTTTGGGATTTGAGATCCGGATATGGGGGTACCGAATATGCGGTGTTAGGGTATCCGAGGGGGACTCGGGGTTCAGGTCGGGGGTTCCCAGGTGGGCCTCCCTGGAGGCAGTTCGGCGTTGGGGTGGCCAGGGGCCCGGGGGTCCTGACCAGGTCCCGGAGTGAGGAAGGGCGCTGAGCGGCGTGGGCGGC
AGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCCAGCTGCTGTCCCGACTGAGCCAGGGCCTGGGTCAGCACCGAGGTCTCCTCCAGATCCATGCCCCGAAGTCGGATGGCCATCAGCATGGCCCCTGGTATGTGGGGGTACGCGTGAGGGTGGCAGCCCACAGCGGTGGGGCACCCTGGGGCCGGTGCTGGTAGTGGGGCACCGTCGCACCCCCAGGGACCCAAAGTCTCTCGGGCTGACCTCCCAGTCGGGGTCAGGAACGCCCAACCCTCCCCACGCACCGATCTGTGCGCCCTGCGCGCTCCCATTCACCACAGCGGCCACGAAGCCCCTGATGTCCGCTTCGCTCCGGCGGCCTCCGTCTCGCTTCATGCGGATCAGCTCCGGGAGCTGCTTGGGCTCTGGCGAAGGGTCGGGAAGTCCCTGGCTCCCTTCCCCGGAGAAGTCACCAGGCGCGGGTGGGGCCCCGGTTCCCGGGGTCATCAAGGCTGCCATCGCTCCGGGCCTGCGGGGATGCCTGACACGTCCGGGGTCTGCGGCCTCCCGGCGTCGGTGTCTGAGCCACGTGCTCCTGTCCCGACCCCTTTCCCGTGTCTCTCCGGTGTCCGCCCCTCGGTCCCGTGTCTGTGTCGCCCTCGTCCGTGTCTGCCTCCCGCTTCCCCGCCTCGCGACTTGAGCCCCGCCCGTACCTGCTTAGGGCGCTGCCCTCGCCCGCTTGCTCCGGATCCCAGCCCAGGTACCCGGCCTCGCCCGCGGGTCGGGACCGTAGGGTTCAGGGTTCGCGCACAGCGGTCCACTGCCGGCGGCGGGGCGGCGGCGCCCCAGGACGGCAGGCGGGTGGGGCCGCCTGGAGGGCGGAGCTCGGCAGTCGCCGCCCCCGGGAAGCCTTGCACGCCGCGCCCCGGCCAATCCCCCGGTGCCCCCGGACACGCGGAACTTCCGGGCCGTCGGGGCCCGGGGCCGTCGGCGGGGGTGATCCCTGGCCGGTCCCGCCCGGCGTGGGTCTCGGGCGTCTGTGGCTCCCGAGAGTCCCCCTCCCGCCCTCGGTGGGGTCTCGACGTTCGGACGCGGCGCAGCGCTGGGGTCCCGGCCTCGCCCGACGCTCGGGCCCCGCCCCGCTGGGTTCGGAGTTGGGACACGGCCCCAGCCGTGGCTCCACCCCAGGCCTTGCGCCAGGACGCGCAGAGAGAGAGAGAGAGAGGCGGACACGATGCGGACTCGCAGACTTTAAGCAAACACGTGTGGGGCCGCTCCCGCCTGGCGGGTCAGTTGTCCGCGTCGGTCACCAGCGGGGCCAGGTAGTCCGAGTGCCGGATCCCGAAACTCCAGCCGCGGGGCTTCCGGTGCTGCGGGCCCGGAGACACCGCTGACCTCGCGGGGCCGGCATCCTCTCCGCGCCGGGACCCCTGGACCCCCGGGGACTCTGATCCCATCACTCCGACCTCAGGCCCTCCCCACTCTCCTGACTCTGACCCTTGACCCTGGGCTCCAGGCCACCTGATCCACGTTGTAGGCCGCGGGCCCTGGCTTCCGAGTGTTGTCTTGGGGGAGCGAAGTCCGCGCCAGAATCGTGAACTGGGGGGCCCGGGACTTGTAGACCCCTGGACTCACGACCTGATAGGCGCAGGGGCCCGGGGTCTGCGAGAGGGCAGAGGGTGCTGGCTGCCGCCTCCACTGCCGCGGACCAGGGACCCCCTGCGTCCGCCCCGGCCCCTCCCCCACCTTGCTGAGGTCCTCGAAGAAACTGCCAGCCGCTCTGCGGCCGTAGATGGAGCAAGTTGGGGCGGAGACTTTGCCGATGACGCGCGGACCCAAGAGCGAGGGCACCGTATAGGCCGCGGGACCTGGGGAGGAGGCAGGGCTCGGGGGTAGTGGGTCTCCGCGGACAGGCGCAGGGTGGTCCCAGCTCCCGGAGGGCGGTCCCCGGTCTCGAGTGGGAAGGCCCACAGTTCTGGGATGGGCCGTTCTGACCTCACCTGGGCTCTGCTGTTCCGCCTGGACACCCCAGTTTCGGGGAGCAATGGTGTGCCGAGGCGCACTGGGGTACGTCGCGTTCCCCGCTCGCTCCGGGAAGTACCTGCCTGCGGGGCGGATCAAGGGTGTGGGGGGCTAGAACTGCGTGGGAGCCTGGTGGGTACCCGAGATGGGGTCCTGGGACTAGTGGGGAGTCTGAGCCACGATTTATCAAAGCCCCGTGGGGTTCGGGGTTTGGGATTTGAGATCCGGATATGGGGGTACCGAATATGCGGTGTTAGGGTATCCGAGGGGGACTCGGGGTTCAGGTCGGGGGTTCCCAGGTGGGCCTCCCTGGAGGCAGTTCGGCGTTGGGGTGGCCAGGGGCCCGGGGGTCCTGACCAGGTCCCGGAGTGAGGAAGGGCGCTGAGCGGCGTGGGCGGC
Task1_train_28957
Here’s a variant in TYMP (thymidine phosphorylase) located on Chromosome 22. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; not provided
GAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCCAGCTGCTGTCCCGACTGAGCCAGGGCCTGGGTCAGCACCGAGGTCTCCTCCAGATCCATGCCCCGAAGTCGGATGGCCATCAGCATGGCCCCTGGTATGTGGGGGTACGCGTGAGGGTGGCAGCCCACAGCGGTGGGGCACCCTGGGGCCGGTGCTGGTAGTGGGGCACCGTCGCACCCCCAGGGACCCAAAGTCTCTCGGGCTGACCTCCCAGTCGGGGTCAGGAACGCCCAACCCTCCCCACGCACCGATCTGTGCGCCCTGCGCGCTCCCATTCACCACAGCGGCCACGAAGCCCCTGATGTCCGCTTCGCTCAGGCGGCCTCCGTCTCGCTTCATGCGGATCAGCTCCGGGAGCTGCTTGGGCTCTGGCGAAGGGTCGGGAAGTCCCTGGCTCCCTTCCCCGGAGAAGTCACCAGGCGCGGGTGGGGCCCCGGTTCCCGGGGTCATCAAGGCTGCCATCGCTCCGGGCCTGCGGGGATGCCTGACACGTCCGGGGTCTGCGGCCTCCCGGCGTCGGTGTCTGAGCCACGTGCTCCTGTCCCGACCCCTTTCCCGTGTCTCTCCGGTGTCCGCCCCTCGGTCCCGTGTCTGTGTCGCCCTCGTCCGTGTCTGCCTCCCGCTTCCCCGCCTCGCGACTTGAGCCCCGCCCGTACCTGCTTAGGGCGCTGCCCTCGCCCGCTTGCTCCGGATCCCAGCCCAGGTACCCGGCCTCGCCCGCGGGTCGGGACCGTAGGGTTCAGGGTTCGCGCACAGCGGTCCACTGCCGGCGGCGGGGCGGCGGCGCCCCAGGACGGCAGGCGGGTGGGGCCGCCTGGAGGGCGGAGCTCGGCAGTCGCCGCCCCCGGGAAGCCTTGCACGCCGCGCCCCGGCCAATCCCCCGGTGCCCCCGGACACGCGGAACTTCCGGGCCGTCGGGGCCCGGGGCCGTCGGCGGGGGTGATCCCTGGCCGGTCCCGCCCGGCGTGGGTCTCGGGCGTCTGTGGCTCCCGAGAGTCCCCCTCCCGCCCTCGGTGGGGTCTCGACGTTCGGACGCGGCGCAGCGCTGGGGTCCCGGCCTCGCCCGACGCTCGGGCCCCGCCCCGCTGGGTTCGGAGTTGGGACACGGCCCCAGCCGTGGCTCCACCCCAGGCCTTGCGCCAGGACGCGCAGAGAGAGAGAGAGAGAGGCGGACACGATGCGGACTCGCAGACTTTAAGCAAACACGTGTGGGGCCGCTCCCGCCTGGCGGGTCAGTTGTCCGCGTCGGTCACCAGCGGGGCCAGGTAGTCCGAGTGCCGGATCCCGAAACTCCAGCCGCGGGGCTTCCGGTGCTGCGGGCCCGGAGACACCGCTGACCTCGCGGGGCCGGCATCCTCTCCGCGCCGGGACCCCTGGACCCCCGGGGACTCTGATCCCATCACTCCGACCTCAGGCCCTCCCCACTCTCCTGACTCTGACCCTTGACCCTGGGCTCCAGGCCACCTGATCCACGTTGTAGGCCGCGGGCCCTGGCTTCCGAGTGTTGTCTTGGGGGAGCGAAGTCCGCGCCAGAATCGTGAACTGGGGGGCCCGGGACTTGTAGACCCCTGGACTCACGACCTGATAGGCGCAGGGGCCCGGGGTCTGCGAGAGGGCAGAGGGTGCTGGCTGCCGCCTCCACTGCCGCGGACCAGGGACCCCCTGCGTCCGCCCCGGCCCCTCCCCCACCTTGCTGAGGTCCTCGAAGAAACTGCCAGCCGCTCTGCGGCCGTAGATGGAGCAAGTTGGGGCGGAGACTTTGCCGATGACGCGCGGACCCAAGAGCGAGGGCACCGTATAGGCCGCGGGACCTGGGGAGGAGGCAGGGCTCGGGGGTAGTGGGTCTCCGCGGACAGGCGCAGGGTGGTCCCAGCTCCCGGAGGGCGGTCCCCGGTCTCGAGTGGGAAGGCCCACAGTTCTGGGATGGGCCGTTCTGACCTCACCTGGGCTCTGCTGTTCCGCCTGGACACCCCAGTTTCGGGGAGCAATGGTGTGCCGAGGCGCACTGGGGTACGTCGCGTTCCCCGCTCGCTCCGGGAAGTACCTGCCTGCGGGGCGGATCAAGGGTGTGGGGGGCTAGAACTGCGTGGGAGCCTGGTGGGTACCCGAGATGGGGTCCTGGGACTAGTGGGGAGTCTGAGCCACGATTTATCAAAGCCCCGTGGGGTTCGGGGTTTGGGATTTGAGATCCGGATATGGGGGTACCGAATATGCGGTGTTAGGGTATCCGAGGGGGACTCGGGGTTCAGGTCGGGGGTTCCCAGGTGGGCCTCCCTGGAGGCAGTTCGGCGTTGGGGTGGCCAGGGGCCCGGGGGTCCTGACCAGGTCCCGGAGTGAGGAAGGGCGCTGAGCGGCGTGGGCGGCCGTAGATGGAGTAGG
GAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCCAGCTGCTGTCCCGACTGAGCCAGGGCCTGGGTCAGCACCGAGGTCTCCTCCAGATCCATGCCCCGAAGTCGGATGGCCATCAGCATGGCCCCTGGTATGTGGGGGTACGCGTGAGGGTGGCAGCCCACAGCGGTGGGGCACCCTGGGGCCGGTGCTGGTAGTGGGGCACCGTCGCACCCCCAGGGACCCAAAGTCTCTCGGGCTGACCTCCCAGTCGGGGTCAGGAACGCCCAACCCTCCCCACGCACCGATCTGTGCGCCCTGCGCGCTCCCATTCACCACAGCGGCCACGAAGCCCCTGATGTCCGCTTCGCTCAGGCGGCCTCCGTCTTGCTTCATGCGGATCAGCTCCGGGAGCTGCTTGGGCTCTGGCGAAGGGTCGGGAAGTCCCTGGCTCCCTTCCCCGGAGAAGTCACCAGGCGCGGGTGGGGCCCCGGTTCCCGGGGTCATCAAGGCTGCCATCGCTCCGGGCCTGCGGGGATGCCTGACACGTCCGGGGTCTGCGGCCTCCCGGCGTCGGTGTCTGAGCCACGTGCTCCTGTCCCGACCCCTTTCCCGTGTCTCTCCGGTGTCCGCCCCTCGGTCCCGTGTCTGTGTCGCCCTCGTCCGTGTCTGCCTCCCGCTTCCCCGCCTCGCGACTTGAGCCCCGCCCGTACCTGCTTAGGGCGCTGCCCTCGCCCGCTTGCTCCGGATCCCAGCCCAGGTACCCGGCCTCGCCCGCGGGTCGGGACCGTAGGGTTCAGGGTTCGCGCACAGCGGTCCACTGCCGGCGGCGGGGCGGCGGCGCCCCAGGACGGCAGGCGGGTGGGGCCGCCTGGAGGGCGGAGCTCGGCAGTCGCCGCCCCCGGGAAGCCTTGCACGCCGCGCCCCGGCCAATCCCCCGGTGCCCCCGGACACGCGGAACTTCCGGGCCGTCGGGGCCCGGGGCCGTCGGCGGGGGTGATCCCTGGCCGGTCCCGCCCGGCGTGGGTCTCGGGCGTCTGTGGCTCCCGAGAGTCCCCCTCCCGCCCTCGGTGGGGTCTCGACGTTCGGACGCGGCGCAGCGCTGGGGTCCCGGCCTCGCCCGACGCTCGGGCCCCGCCCCGCTGGGTTCGGAGTTGGGACACGGCCCCAGCCGTGGCTCCACCCCAGGCCTTGCGCCAGGACGCGCAGAGAGAGAGAGAGAGAGGCGGACACGATGCGGACTCGCAGACTTTAAGCAAACACGTGTGGGGCCGCTCCCGCCTGGCGGGTCAGTTGTCCGCGTCGGTCACCAGCGGGGCCAGGTAGTCCGAGTGCCGGATCCCGAAACTCCAGCCGCGGGGCTTCCGGTGCTGCGGGCCCGGAGACACCGCTGACCTCGCGGGGCCGGCATCCTCTCCGCGCCGGGACCCCTGGACCCCCGGGGACTCTGATCCCATCACTCCGACCTCAGGCCCTCCCCACTCTCCTGACTCTGACCCTTGACCCTGGGCTCCAGGCCACCTGATCCACGTTGTAGGCCGCGGGCCCTGGCTTCCGAGTGTTGTCTTGGGGGAGCGAAGTCCGCGCCAGAATCGTGAACTGGGGGGCCCGGGACTTGTAGACCCCTGGACTCACGACCTGATAGGCGCAGGGGCCCGGGGTCTGCGAGAGGGCAGAGGGTGCTGGCTGCCGCCTCCACTGCCGCGGACCAGGGACCCCCTGCGTCCGCCCCGGCCCCTCCCCCACCTTGCTGAGGTCCTCGAAGAAACTGCCAGCCGCTCTGCGGCCGTAGATGGAGCAAGTTGGGGCGGAGACTTTGCCGATGACGCGCGGACCCAAGAGCGAGGGCACCGTATAGGCCGCGGGACCTGGGGAGGAGGCAGGGCTCGGGGGTAGTGGGTCTCCGCGGACAGGCGCAGGGTGGTCCCAGCTCCCGGAGGGCGGTCCCCGGTCTCGAGTGGGAAGGCCCACAGTTCTGGGATGGGCCGTTCTGACCTCACCTGGGCTCTGCTGTTCCGCCTGGACACCCCAGTTTCGGGGAGCAATGGTGTGCCGAGGCGCACTGGGGTACGTCGCGTTCCCCGCTCGCTCCGGGAAGTACCTGCCTGCGGGGCGGATCAAGGGTGTGGGGGGCTAGAACTGCGTGGGAGCCTGGTGGGTACCCGAGATGGGGTCCTGGGACTAGTGGGGAGTCTGAGCCACGATTTATCAAAGCCCCGTGGGGTTCGGGGTTTGGGATTTGAGATCCGGATATGGGGGTACCGAATATGCGGTGTTAGGGTATCCGAGGGGGACTCGGGGTTCAGGTCGGGGGTTCCCAGGTGGGCCTCCCTGGAGGCAGTTCGGCGTTGGGGTGGCCAGGGGCCCGGGGGTCCTGACCAGGTCCCGGAGTGAGGAAGGGCGCTGAGCGGCGTGGGCGGCCGTAGATGGAGTAGG
Task1_train_28958
Given this variant in gene ARSA (arylsulfatase A) on Chromosome 22, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Metachromatic leukodystrophy
GGTGGAGGCCTCAAGGGCAAACTGGGTCACTGTAAGGGGTTTGGATTTTCTTCTGAGAAGCCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTATTTGCAGACAGGGTCTCACTCTGTCCCCGAGGCTGGAGTGCAGTGGTACAATTATAGCTCACTACAGCCTCGACCTAGTGGGCTGAAGTGATTCTCCCACCTCAACCTCCCAAATTGCTAGGACAAATGCTACCACGCCTGGCTAATTAAAACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCTTGTCTCTATTAAATAAAAAAAAATTAGCTGGGCATGGCAGCACACACCTGTAGTTCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCAGTGAGCGGAGATGGTACCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAACAAATCTTTAGAGCTGGGGTCTCACTATGTTGCCCAGGCTGGTCTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCC
GGTGGAGGCCTCAAGGGCAAACTGGGTCACTGTAAGGGGTTTGGATTTTCTTCTGAGAAGCCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTATTTGCAGACAGGGTCTCACTCTGTCCCCGAGGCTGGAGTGCAGTGGTACAATTATAGCTCACTACAGCCTCGACCTAGTGGGCTGAAGTGATTCTCCCACCTCAACCTCCCAAATTGCTAGGACAAATGCTACCACGCCTGGCTAATTAAAACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCTTGTCTCTATTAAATAAAAAAAAATTAGCTGGGCATGGCAGCACACACCTGTAGTTCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCAGTGAGCGGAGATGGTACCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAACAAATCTTTAGAGCTGGGGTCTCACTATGTTGCCCAGGCTGGTCTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCAGAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCC
Task1_train_28959
Here is a variant affecting ARSA (arylsulfatase A) on Chromosome 22. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Metachromatic leukodystrophy
CTCAAGGGCAAACTGGGTCACTGTAAGGGGTTTGGATTTTCTTCTGAGAAGCCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTATTTGCAGACAGGGTCTCACTCTGTCCCCGAGGCTGGAGTGCAGTGGTACAATTATAGCTCACTACAGCCTCGACCTAGTGGGCTGAAGTGATTCTCCCACCTCAACCTCCCAAATTGCTAGGACAAATGCTACCACGCCTGGCTAATTAAAACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCTTGTCTCTATTAAATAAAAAAAAATTAGCTGGGCATGGCAGCACACACCTGTAGTTCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCAGTGAGCGGAGATGGTACCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAACAAATCTTTAGAGCTGGGGTCTCACTATGTTGCCCAGGCTGGTCTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGA
CTCAAGGGCAAACTGGGTCACTGTAAGGGGTTTGGATTTTCTTCTGAGAAGCCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTATTTGCAGACAGGGTCTCACTCTGTCCCCGAGGCTGGAGTGCAGTGGTACAATTATAGCTCACTACAGCCTCGACCTAGTGGGCTGAAGTGATTCTCCCACCTCAACCTCCCAAATTGCTAGGACAAATGCTACCACGCCTGGCTAATTAAAACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCTTGTCTCTATTAAATAAAAAAAAATTAGCTGGGCATGGCAGCACACACCTGTAGTTCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCAGTGAGCGGAGATGGTACCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAACAAATCTTTAGAGCTGGGGTCTCACTATGTTGCCCAGGCTGGTCTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCAGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGA
Task1_train_28960
Consider this mutation in ARSA (arylsulfatase A) on Chromosome 22. Is this a benign change or a disease-causing variant?
Pathogenic; See cases
CTCAAGGGCAAACTGGGTCACTGTAAGGGGTTTGGATTTTCTTCTGAGAAGCCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTATTTGCAGACAGGGTCTCACTCTGTCCCCGAGGCTGGAGTGCAGTGGTACAATTATAGCTCACTACAGCCTCGACCTAGTGGGCTGAAGTGATTCTCCCACCTCAACCTCCCAAATTGCTAGGACAAATGCTACCACGCCTGGCTAATTAAAACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCTTGTCTCTATTAAATAAAAAAAAATTAGCTGGGCATGGCAGCACACACCTGTAGTTCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCAGTGAGCGGAGATGGTACCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAACAAATCTTTAGAGCTGGGGTCTCACTATGTTGCCCAGGCTGGTCTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGA
CTCAAGGGCAAACTGGGTCACTGTAAGGGGTTTGGATTTTCTTCTGAGAAGCCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTATTTGCAGACAGGGTCTCACTCTGTCCCCGAGGCTGGAGTGCAGTGGTACAATTATAGCTCACTACAGCCTCGACCTAGTGGGCTGAAGTGATTCTCCCACCTCAACCTCCCAAATTGCTAGGACAAATGCTACCACGCCTGGCTAATTAAAACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCTTGTCTCTATTAAATAAAAAAAAATTAGCTGGGCATGGCAGCACACACCTGTAGTTCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCAGTGAGCGGAGATGGTACCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAACAAATCTTTAGAGCTGGGGTCTCACTATGTTGCCCAGGCTGGTCTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCAGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGA
Task1_train_28961
A change on Chromosome 22 affects gene ARSA (arylsulfatase A). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Metachromatic leukodystrophy, juvenile type
AGGGCAAACTGGGTCACTGTAAGGGGTTTGGATTTTCTTCTGAGAAGCCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTATTTGCAGACAGGGTCTCACTCTGTCCCCGAGGCTGGAGTGCAGTGGTACAATTATAGCTCACTACAGCCTCGACCTAGTGGGCTGAAGTGATTCTCCCACCTCAACCTCCCAAATTGCTAGGACAAATGCTACCACGCCTGGCTAATTAAAACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCTTGTCTCTATTAAATAAAAAAAAATTAGCTGGGCATGGCAGCACACACCTGTAGTTCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCAGTGAGCGGAGATGGTACCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAACAAATCTTTAGAGCTGGGGTCTCACTATGTTGCCCAGGCTGGTCTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGA
AGGGCAAACTGGGTCACTGTAAGGGGTTTGGATTTTCTTCTGAGAAGCCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTATTTGCAGACAGGGTCTCACTCTGTCCCCGAGGCTGGAGTGCAGTGGTACAATTATAGCTCACTACAGCCTCGACCTAGTGGGCTGAAGTGATTCTCCCACCTCAACCTCCCAAATTGCTAGGACAAATGCTACCACGCCTGGCTAATTAAAACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCTTGTCTCTATTAAATAAAAAAAAATTAGCTGGGCATGGCAGCACACACCTGTAGTTCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCAGTGAGCGGAGATGGTACCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAACAAATCTTTAGAGCTGGGGTCTCACTATGTTGCCCAGGCTGGTCTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGTCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGA
Task1_train_28962
Consider this mutation in ARSA (arylsulfatase A) on Chromosome 22. Is this a benign change or a disease-causing variant?
Pathogenic; Metachromatic leukodystrophy
AAACTGGGTCACTGTAAGGGGTTTGGATTTTCTTCTGAGAAGCCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTATTTGCAGACAGGGTCTCACTCTGTCCCCGAGGCTGGAGTGCAGTGGTACAATTATAGCTCACTACAGCCTCGACCTAGTGGGCTGAAGTGATTCTCCCACCTCAACCTCCCAAATTGCTAGGACAAATGCTACCACGCCTGGCTAATTAAAACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCTTGTCTCTATTAAATAAAAAAAAATTAGCTGGGCATGGCAGCACACACCTGTAGTTCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCAGTGAGCGGAGATGGTACCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAACAAATCTTTAGAGCTGGGGTCTCACTATGTTGCCCAGGCTGGTCTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGT
AAACTGGGTCACTGTAAGGGGTTTGGATTTTCTTCTGAGAAGCCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTATTTGCAGACAGGGTCTCACTCTGTCCCCGAGGCTGGAGTGCAGTGGTACAATTATAGCTCACTACAGCCTCGACCTAGTGGGCTGAAGTGATTCTCCCACCTCAACCTCCCAAATTGCTAGGACAAATGCTACCACGCCTGGCTAATTAAAACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCTTGTCTCTATTAAATAAAAAAAAATTAGCTGGGCATGGCAGCACACACCTGTAGTTCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCAGTGAGCGGAGATGGTACCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAACAAATCTTTAGAGCTGGGGTCTCACTATGTTGCCCAGGCTGGTCTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCACGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGT
Task1_train_28963
This variant affects gene ARSA (arylsulfatase A) located on Chromosome 22. Evaluate its biological effect and specify any disease association.
Pathogenic; Metachromatic leukodystrophy
ACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCTTGTCTCTATTAAATAAAAAAAAATTAGCTGGGCATGGCAGCACACACCTGTAGTTCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCAGTGAGCGGAGATGGTACCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAACAAATCTTTAGAGCTGGGGTCTCACTATGTTGCCCAGGCTGGTCTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCA
ACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCTTGTCTCTATTAAATAAAAAAAAATTAGCTGGGCATGGCAGCACACACCTGTAGTTCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCAGTGAGCGGAGATGGTACCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAACAAATCTTTAGAGCTGGGGTCTCACTATGTTGCCCAGGCTGGTCTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACAGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCA
Task1_train_28964
A variant was discovered in gene ARSA (arylsulfatase A), Chromosome 22. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Metachromatic leukodystrophy
AAAAAAAAAAAAAAAAAAAAAAACAAAAACAAATCTTTAGAGCTGGGGTCTCACTATGTTGCCCAGGCTGGTCTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGA
AAAAAAAAAAAAAAAAAAAAAAACAAAAACAAATCTTTAGAGCTGGGGTCTCACTATGTTGCCCAGGCTGGTCTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGGGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGA
Task1_train_28965
Given this context: Chromosome 22, gene ARSA (arylsulfatase A) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Metachromatic leukodystrophy
CTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGT
CTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCGGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGT
Task1_train_28966
This variant impacts the gene ARSA (arylsulfatase A) on Chromosome 22. Is the change likely to result in a pathogenic outcome?
Pathogenic; not specified
CTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGT
CTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCGGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGT
Task1_train_28967
This gene mutation involves ARSA (arylsulfatase A) on Chromosome 22. Is it associated with any clinical condition, or is it benign?
Pathogenic; ARYLSULFATASE A PSEUDODEFICIENCY
TTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGG
TTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACAGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGG
Task1_train_28968
Gene ARSA (arylsulfatase A) on Chromosome 22 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Metachromatic leukodystrophy
AGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGC
AGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGAAATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGC
Task1_train_28969
This is a variant in ARSA (arylsulfatase A), located on Chromosome 22. Is this mutation a likely cause of disease or not?
Pathogenic; Metachromatic leukodystrophy
CCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGT
CCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGACCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGT
Task1_train_28970
Located on Chromosome 22, this mutation impacts ARSA (arylsulfatase A). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Metachromatic leukodystrophy
CCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGT
CCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGTCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGT
Task1_train_28971
Located on Chromosome 22, this mutation impacts ARSA (arylsulfatase A). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; not specified
CCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGT
CCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGTCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGT
Task1_train_28972
Given this context: Chromosome 22, gene ARSA (arylsulfatase A) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Metachromatic leukodystrophy
CTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTC
CTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTTGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTC
Task1_train_28973
The gene ARSA (arylsulfatase A) on Chromosome 22 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Metachromatic leukodystrophy
TCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGT
TCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCTACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGT
Task1_train_28974
Consider a variant on Chromosome 22 in gene ARSA (arylsulfatase A). Determine its clinical classification and disease relevance.
Pathogenic; Metachromatic leukodystrophy, late infantile form
TCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGC
TCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCAAACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGC
Task1_train_28975
An alteration has been detected in ARSA (arylsulfatase A) on Chromosome 22. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Metachromatic leukodystrophy
TCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGC
TCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCATACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGC
Task1_train_28976
This mutation occurs in ARSA (arylsulfatase A) on Chromosome 22. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Metachromatic leukodystrophy
CCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGG
CCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGTAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGG
Task1_train_28977
A variant was discovered on Chromosome 22, affecting ARSA (arylsulfatase A). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Metachromatic leukodystrophy
CACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGC
CACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGGCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGC
Task1_train_28978
With a mutation on Chromosome 22 in gene ARSA (arylsulfatase A), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Metachromatic leukodystrophy
CAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGG
CAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCTTTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGG
Task1_train_28979
This alteration in ARSA (arylsulfatase A) on Chromosome 22 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Metachromatic leukodystrophy
GGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATG
GGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATGCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATG
Task1_train_28980
A mutation in ARSA (arylsulfatase A), located on Chromosome 22, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Metachromatic leukodystrophy
TGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGG
TGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGTAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGG
Task1_train_28981
This genomic variant is located on Chromosome 22, within the ARSA (arylsulfatase A) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Metachromatic leukodystrophy
AAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGT
AAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAGATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGT
Task1_train_28982
Consider this mutation in ARSA (arylsulfatase A) on Chromosome 22. Is this a benign change or a disease-causing variant?
Pathogenic; not specified
TCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGG
TCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGTGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGG
Task1_train_28983
With a mutation on Chromosome 22 in gene ARSA (arylsulfatase A), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Metachromatic leukodystrophy
TGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGG
TGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGACGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGG
Task1_train_28984
The gene ARSA (arylsulfatase A), on Chromosome 22, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Metachromatic leukodystrophy
GACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGG
GACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGGGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGG
Task1_train_28985
A variant was discovered in gene ARSA (arylsulfatase A), Chromosome 22. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Metachromatic leukodystrophy
AATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTG
AATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGCGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTG
Task1_train_28986
With a mutation on Chromosome 22 in gene ARSA (arylsulfatase A), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Metachromatic leukodystrophy
GTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGT
GTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTCGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGT
Task1_train_28987
A variant was discovered on Chromosome 22, affecting ARSA (arylsulfatase A). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Metachromatic leukodystrophy
TCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGG
TCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAACGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGG
Task1_train_28988
A sequence alteration has been identified in ARSA (arylsulfatase A) on Chromosome 22. Is it disease-inducing or harmless?
Pathogenic; Metachromatic leukodystrophy
GCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTT
GCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGGAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTT
Task1_train_28989
Given this variant in gene ARSA (arylsulfatase A) on Chromosome 22, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; ARYLSULFATASE A PSEUDODEFICIENCY
ACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGG
ACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGCGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGG
Task1_train_28990
A genomic change on Chromosome 22 affects ARSA (arylsulfatase A). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Metachromatic leukodystrophy
CCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGAC
CCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACCGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGAC
Task1_train_28991
An alteration has been detected in ARSA (arylsulfatase A) on Chromosome 22. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Metachromatic leukodystrophy
GATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAA
GATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAGGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAA
Task1_train_28992
A variant on Chromosome 22 in gene ARSA (arylsulfatase A) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Metachromatic leukodystrophy
AGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGAATAGCTGA
AGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGTCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGAATAGCTGA
Task1_train_28993
This gene mutation involves ARSA (arylsulfatase A) on Chromosome 22. Is it associated with any clinical condition, or is it benign?
Pathogenic; Metachromatic leukodystrophy, adult type
CAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGAATAGCTGAAA
CAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCGGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGAATAGCTGAAA
Task1_train_28994
A variant affecting Chromosome 22, within the gene ARSA (arylsulfatase A), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Metachromatic leukodystrophy
ATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGAATAGCTGAAAAGCTGTCTTTTGTGGGGGAGATTTGCATCTGTGGAG
ATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACGTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGAATAGCTGAAAAGCTGTCTTTTGTGGGGGAGATTTGCATCTGTGGAG
Task1_train_28995
The gene ARSA (arylsulfatase A) on Chromosome 22 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Metachromatic leukodystrophy
TTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGAATAGCTGAAAAGCTGTCTTTTGTGGGGGAGATTTGCATCTGTGGAGAGAATCTACACTGATGCGGCCAGGCCTCCTCTGAGGCCCTCCTTGCCTGATCTGGGAAGAGTAACAGTCTGA
TTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGACCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGAATAGCTGAAAAGCTGTCTTTTGTGGGGGAGATTTGCATCTGTGGAGAGAATCTACACTGATGCGGCCAGGCCTCCTCTGAGGCCCTCCTTGCCTGATCTGGGAAGAGTAACAGTCTGA
Task1_train_28996
Gene ARSA (arylsulfatase A), found on Chromosome 22, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Metachromatic leukodystrophy
GGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGAATAGCTGAAAAGCTGTCTTTTGTGGGGGAGATTTGCATCTGTGGAGAGAATCTACACTGATGCGGCCAGGCCTCCTCTGAGGCCCTCCTTGCCTGATCTGGGAAGAGTAACAGTCTGACGCCTTTAAAGGCCTGAAGGGAACATTCACCATCTGTTC
GGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGTCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGAATAGCTGAAAAGCTGTCTTTTGTGGGGGAGATTTGCATCTGTGGAGAGAATCTACACTGATGCGGCCAGGCCTCCTCTGAGGCCCTCCTTGCCTGATCTGGGAAGAGTAACAGTCTGACGCCTTTAAAGGCCTGAAGGGAACATTCACCATCTGTTC
Task1_train_28997
Given a variant located on Chromosome 22 and affecting ARSA (arylsulfatase A), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Metachromatic leukodystrophy
GCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGAATAGCTGAAAAGCTGTCTTTTGTGGGGGAGATTTGCATCTGTGGAGAGAATCTACACTGATGCGGCCAGGCCTCCTCTGAGGCCCTCCTTGCCTGATCTGGGAAGAGTAACAGTCTGACGCCTTTAAAGGCCTGAAGGGAACATTCACCATCTGTTCTCTCTC
GCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCTGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGAATAGCTGAAAAGCTGTCTTTTGTGGGGGAGATTTGCATCTGTGGAGAGAATCTACACTGATGCGGCCAGGCCTCCTCTGAGGCCCTCCTTGCCTGATCTGGGAAGAGTAACAGTCTGACGCCTTTAAAGGCCTGAAGGGAACATTCACCATCTGTTCTCTCTC
Task1_train_28998
Gene ARSA (arylsulfatase A) on Chromosome 22 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Metachromatic leukodystrophy
AGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGAATAGCTGAAAAGCTGTCTTTTGTGGGGGAGATTTGCATCTGTGGAGAGAATCTACACTGATGCGGCCAGGCCTCCTCTGAGGCCCTCCTTGCCTGATCTGGGAAGAGTAACAGTCTGACGCCTTTAAAGGCCTGAAGGGAACATTCACCATCTGTTCTCTCTCAGGGCTGCTACCTGTGAGGTTTCATCTG
AGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGGGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGAATAGCTGAAAAGCTGTCTTTTGTGGGGGAGATTTGCATCTGTGGAGAGAATCTACACTGATGCGGCCAGGCCTCCTCTGAGGCCCTCCTTGCCTGATCTGGGAAGAGTAACAGTCTGACGCCTTTAAAGGCCTGAAGGGAACATTCACCATCTGTTCTCTCTCAGGGCTGCTACCTGTGAGGTTTCATCTG
Task1_train_28999
Assess the clinical impact of this variant on gene ARSA (arylsulfatase A), found on Chromosome 22. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Metachromatic leukodystrophy
GACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGAATAGCTGAAAAGCTGTCTTTTGTGGGGGAGATTTGCATCTGTGGAGAGAATCTACACTGATGCGGCCAGGCCTCCTCTGAGGCCCTCCTTGCCTGATCTGGGAAGAGTAACAGTCTGACGCCTTTAAAGGCCTGAAGGGAACATTCACCATCTGTTCTCTCTCAGGGCTGCTACCTGTGAGGTTTCATCTGTAGAACAAGGCCACCTTTGCTAGCCAGGCCTCCTCTGCTCTCCCTCCTGTAACCGGTCTTGCCACTGGTCACCTGATTTTCCACCATAAACTGTGGCCATACTTTGAGCCCATGTTCTTTCTGTAACCTCAAGATGGTATATAAGCTTCCGAACCCCATTGGGAGGTTGGGGTCATCACTCTGGTTCTCCCTGTGTGCATGAATAAATCTGTATGCCTTTTTTCTTACTAACCTGGCTTTTGTCAGTTGATTTTCTGTGAACTCAGAATGCAGAAAAGTT
GACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGGGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGACCAGGGCACCTTCAGATTCTCGAGCGGAGATCTGATCCTCCTCGCCTAGCGGTCCGGGCTCAGGGTCGGGGGCGTAAGTCACTTGGCGCTGACCAGCGGAGTCGGGCCGGGGGGAAGGCGCTAGAGGGAGCCCAGGAGGAGCCGGTACCGGGCTGCGGGCGCTTCCGCCTCGGCCCCGCCCCGTGACCTGTGACCCTTGCGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGGCCGGGGGCGGGCCGGGGCGAGGGGCGTTGCTGCGCGTGCTCGCTCCGAGGCCGCCGTGTGCGCCTGAGGCTGTTGGCTGCGGTCTTGAAACGGGCTCTGGGAGCTTCCTCTGCGCGGTCGGCCCTGGCTGAGGCGTCCCGGGCTGCGCGCGGGGCTCGGCGCTGCGCAGTGTCCGGTGTCCTCTCGGTCCGGAGCTTCTCCAGAGGAGGAGCGGCTCGTGCGCCCCCAGACCTCCGGTACTGGGAGACTCGGGCCCTCCTGTAAGAGACCTGAGCGCGGAGCGTTATGGGCACCCGGTGAATGAGCAAATGGCAGGGAAAACCGTGCAGCCCCATGGACTGCGGGCTCTTCCTTCACGACTAGCAAAAGCTTTGACACCCTTTCTCCTGCGTACGCGTGTCTGTGTGCGTGTAAGCTGTGGCTGGGTGCGGGGGGCTGTGTACGTGTCTGTGTGTGGTGTGTGTGGAGTGTTTGAGGCAGGTGTGTGGTGTTTCAGGTGTGTGTGCATGTGTGGTGTTTGAGGTGTGTGTGTGTGTTTTTGTAGTGTTTGAGGGATATGTGTGTGTGGTGTTTGAGGTGGGTGTGTGGTGTTTGAGGGGTGTGTGTGTGTGGTTGAGGGGTGTGTTTGGTGTTTGAGGGGTGTGTGTGGTTGAGGTGTATGGTGGTTGAGGTGTGTGTAGTGTTTGAGGCACGTATGTGTGTGGTGTTGGGTGTGTGTGGTGTTAGAGGTGTGGCGTATGTGTGTTTGCGGTGGTTGAGGTGTGTGTGTGTGTCTGGTGTTTAGGGTGTGTCTGTTGTGTGCGTGTGGTGGTGGAGGCGTGGTGTGGTGTGGAATGTGTGTCTGGGGTCCAGTCTGGCCTGTTGCAGGGTTACGCTGCTGGGGAAAAACTCATCTGAGGACAACGTGATTGGGTCCTCGCTCCCTCGTTGGGCAGCCTTGGACTTAACCTTTTTGATCTTGAAGGAAAACACAATATGTCACCTCCAAATATATTTCCTTGACACGGTTCAAGACAGTTACTCAGAAGGACTGGAAATAGAAGAATAGCTGAAAAGCTGTCTTTTGTGGGGGAGATTTGCATCTGTGGAGAGAATCTACACTGATGCGGCCAGGCCTCCTCTGAGGCCCTCCTTGCCTGATCTGGGAAGAGTAACAGTCTGACGCCTTTAAAGGCCTGAAGGGAACATTCACCATCTGTTCTCTCTCAGGGCTGCTACCTGTGAGGTTTCATCTGTAGAACAAGGCCACCTTTGCTAGCCAGGCCTCCTCTGCTCTCCCTCCTGTAACCGGTCTTGCCACTGGTCACCTGATTTTCCACCATAAACTGTGGCCATACTTTGAGCCCATGTTCTTTCTGTAACCTCAAGATGGTATATAAGCTTCCGAACCCCATTGGGAGGTTGGGGTCATCACTCTGGTTCTCCCTGTGTGCATGAATAAATCTGTATGCCTTTTTTCTTACTAACCTGGCTTTTGTCAGTTGATTTTCTGTGAACTCAGAATGCAGAAAAGTT